From 7795a6fa994f8b74cf155b7e3b1ecb990e6683d0 Mon Sep 17 00:00:00 2001 From: danielnzg85 Date: Thu, 18 Oct 2018 05:49:41 +0200 Subject: [PATCH] ff --- .../7_Annovar/annovar_66_germ_noSNP_out1.fa | 7485 ++ ...novar_66_germ_out1.exonic_variant_function | 6361 ++ .../annovar_66_germ_out1.variant_function | 59528 ++++++++++++++++ 3 files changed, 73374 insertions(+) create mode 100644 Validation/7_Annovar/annovar_66_germ_noSNP_out1.fa create mode 100644 Validation/7_Annovar/annovar_66_germ_out1.exonic_variant_function create mode 100644 Validation/7_Annovar/annovar_66_germ_out1.variant_function diff --git a/Validation/7_Annovar/annovar_66_germ_noSNP_out1.fa b/Validation/7_Annovar/annovar_66_germ_noSNP_out1.fa new file mode 100644 index 0000000..dff8deb --- /dev/null +++ b/Validation/7_Annovar/annovar_66_germ_noSNP_out1.fa @@ -0,0 +1,7485 @@ +>line101 NM_033467 WILDTYPE +MGKSEGPVGMVESAGRAGQKRPGFLEGGLLLLLLLVTAALVALGVLYADRRGKQLPRLASRLCFLQEERTFVKRKPRGIPEAQEVSEVCTTPGCVIAAAR +ILQNMDPTTEPCDDFYQFACGGWLRRHVIPETNSRYSIFDVLRDELEVILKAVLENSTAKDRPAVEKARTLYRSCMNQSVIEKRGSQPLLDILEVVGGWP +VAMDRWNETVGLEWELERQLALMNSQFNRRVLIDLFIWNDDQNSSRHIIYIDQPTLGMPSREYYFNGGSNRKVREAYLQFMVSVATLLREDANLPRDSCL +VQEDMVQVLELETQLAKATVPQEERHDVIALYHRMGLEELQSQFGLKGFNWTLFIQTVLSSVKIKLLPDEEVVVYGIPYLQNLENIIDTYSARTIQNYLV +WRLVLDRIGSLSQRFKDTRVNYRKALFGTMVEEVRWRECVGYVNSNMENAVGSLYVREAFPGDSKSMVRELIDKVRTVFVETLDELGWMDEESKKKAQEK +AMSIREQIGHPDYILEEMNRRLDEEYSNLNFSEDLYFENSLQNLKVGAQRSLRKLREKVDPNLWIIGAAVVNAFYSPNRNQIVFPAGILQPPFFSKEQPQ +ALNFGGIGMVIGHEITHGFDDNGRNFDKNGNMMDWWSNFSTQHFREQSECMIYQYGNYSWDLADEQNVNGFNTLGENIADNGGVRQAYKAYLKWMAEGGK +DQQLPGLDLTHEQLFFINYAQVWCGSYRPEFAIQSIKTDVHSPLKYRVLGSLQNLAAFADTFHCARGTPMHPKERCRVW* +>line101 NM_033467 c.103_105del p.L35del protein-altering (position 35 changed from L to ) +MGKSEGPVGMVESAGRAGQKRPGFLEGGLLLLLLVTAALVALGVLYADRRGKQLPRLASRLCFLQEERTFVKRKPRGIPEAQEVSEVCTTPGCVIAAARI +LQNMDPTTEPCDDFYQFACGGWLRRHVIPETNSRYSIFDVLRDELEVILKAVLENSTAKDRPAVEKARTLYRSCMNQSVIEKRGSQPLLDILEVVGGWPV +AMDRWNETVGLEWELERQLALMNSQFNRRVLIDLFIWNDDQNSSRHIIYIDQPTLGMPSREYYFNGGSNRKVREAYLQFMVSVATLLREDANLPRDSCLV +QEDMVQVLELETQLAKATVPQEERHDVIALYHRMGLEELQSQFGLKGFNWTLFIQTVLSSVKIKLLPDEEVVVYGIPYLQNLENIIDTYSARTIQNYLVW +RLVLDRIGSLSQRFKDTRVNYRKALFGTMVEEVRWRECVGYVNSNMENAVGSLYVREAFPGDSKSMVRELIDKVRTVFVETLDELGWMDEESKKKAQEKA +MSIREQIGHPDYILEEMNRRLDEEYSNLNFSEDLYFENSLQNLKVGAQRSLRKLREKVDPNLWIIGAAVVNAFYSPNRNQIVFPAGILQPPFFSKEQPQA +LNFGGIGMVIGHEITHGFDDNGRNFDKNGNMMDWWSNFSTQHFREQSECMIYQYGNYSWDLADEQNVNGFNTLGENIADNGGVRQAYKAYLKWMAEGGKD +QQLPGLDLTHEQLFFINYAQVWCGSYRPEFAIQSIKTDVHSPLKYRVLGSLQNLAAFADTFHCARGTPMHPKERCRVW* +>line155 NM_020631 WILDTYPE +MHYDGHVRFDLPPQGSVLARNVSTRSCPPRTSPAVDLEEEEEESSVDGKGDRKSTGLKLSKKKARRRHTDDPSKECFTLKFDLNVDIETEIVPAMKKKSL +GEVLLPVFERKGIALGKVDIYLDQSNTPLSLTFEAYRFGGHYLRVKAPAKPGDEGKVEQGMKDSKSLSLPILRPAGTGPPALERVDAQSRRESLDILAPG +RRRKNMSEFLGEASIPGQEPPTPSSCSLPSGSSGSTNTGDSWKNRAASRFSGFFSSGPSTSAFGREVDKMEQLEGKLHTYSLFGLPRLPRGLRFDHDSWE +EEYDEDEDEDNACLRLEDSWRELIDGHEKLTRRQCHQQEAVWELLHTEASYIRKLRVIINLFLCCLLNLQESGLLCEVEAERLFSNIPEIAQLHRRLWAS +VMAPVLEKARRTRALLQPGDFLKGFKMFGSLFKPYIRYCMEEEGCMEYMRGLLRDNDLFRAYITWAEKHPQCQRLKLSDMLAKPHQRLTKYPLLLKSVLR +KTEEPRAKEAVVAMIGSVERFIHHVNACMRQRQERQRLAAVVSRIDAYEVVESSSDEVDKLLKEFLHLDLTAPIPGASPEETRQLLLEGSLRMKEGKDSK +MDVYCFLFTDLLLVTKAVKKAERTRVIRPPLLVDKIVCRELRDPGSFLLIYLNEFHSAVGAYTFQASGQALCRGWVDTIYNAQNQLQQLRAQEPPGSQQP +LQSLEEEEDEQEEEEEEEEEEEEGEDSGTSAASSPTIMRKSSGSPDSQHCASDGSTETLAMVVVEPGDTLSSPEFDSGPFSSQSDETSLSTTASSATPTS +ELLPLGPVDGRSCSMDSAYGTLSPTSLQDFVAPGPMAELVPRAPESPRVPSPPPSPRLRRRTPVQLLSCPPHLLKSKSEASLLQLLAGAGTHGTPSAPSR +SLSELCLAVPAPGIRTQGSPQEAGPSWDCRGAPSPGSGPGLVGCLAGEPAGSHRKRCGDLPSGASPRVQPEPPPGVSAQHRKLTLAQLYRIRTTLLLNST +LTASEV* +>line155 NM_020631 c.127_129del p.E43del protein-altering (position 43 changed from E to ) +MHYDGHVRFDLPPQGSVLARNVSTRSCPPRTSPAVDLEEEEESSVDGKGDRKSTGLKLSKKKARRRHTDDPSKECFTLKFDLNVDIETEIVPAMKKKSLG +EVLLPVFERKGIALGKVDIYLDQSNTPLSLTFEAYRFGGHYLRVKAPAKPGDEGKVEQGMKDSKSLSLPILRPAGTGPPALERVDAQSRRESLDILAPGR +RRKNMSEFLGEASIPGQEPPTPSSCSLPSGSSGSTNTGDSWKNRAASRFSGFFSSGPSTSAFGREVDKMEQLEGKLHTYSLFGLPRLPRGLRFDHDSWEE +EYDEDEDEDNACLRLEDSWRELIDGHEKLTRRQCHQQEAVWELLHTEASYIRKLRVIINLFLCCLLNLQESGLLCEVEAERLFSNIPEIAQLHRRLWASV +MAPVLEKARRTRALLQPGDFLKGFKMFGSLFKPYIRYCMEEEGCMEYMRGLLRDNDLFRAYITWAEKHPQCQRLKLSDMLAKPHQRLTKYPLLLKSVLRK +TEEPRAKEAVVAMIGSVERFIHHVNACMRQRQERQRLAAVVSRIDAYEVVESSSDEVDKLLKEFLHLDLTAPIPGASPEETRQLLLEGSLRMKEGKDSKM +DVYCFLFTDLLLVTKAVKKAERTRVIRPPLLVDKIVCRELRDPGSFLLIYLNEFHSAVGAYTFQASGQALCRGWVDTIYNAQNQLQQLRAQEPPGSQQPL +QSLEEEEDEQEEEEEEEEEEEEGEDSGTSAASSPTIMRKSSGSPDSQHCASDGSTETLAMVVVEPGDTLSSPEFDSGPFSSQSDETSLSTTASSATPTSE +LLPLGPVDGRSCSMDSAYGTLSPTSLQDFVAPGPMAELVPRAPESPRVPSPPPSPRLRRRTPVQLLSCPPHLLKSKSEASLLQLLAGAGTHGTPSAPSRS +LSELCLAVPAPGIRTQGSPQEAGPSWDCRGAPSPGSGPGLVGCLAGEPAGSHRKRCGDLPSGASPRVQPEPPPGVSAQHRKLTLAQLYRIRTTLLLNSTL +TASEV* +>line294 NM_015866 WILDTYPE +MNQNTTEPVAATETLAEVPEHVLRGLPEEVRLFPSAVDKTRIGVWATKPILKGKKFGPFVGDKKKRSQVKNNVYMWEVYYPNLGWMCIDATDPEKGNWLR +YVNWACSGEEQNLFPLEINRAIYYKTLKPIAPGEELLVWYNGEDNPEIAAAIEEERASARSKRSSPKSRKGKKKSQENKNKGNKIQDIQLKTSEPDFTSA +NMRDSAEGPKEDEEKPSASALEQPATLQEVASQEVPPELATPAPAWEPQPEPDERLEAAACEVNDLGEEEEEEEEEDEEEEEDDDDDELEDEGEEEASMP +NENSVKEPEIRCDEKPEDLLEEPKTTSEETLEDCSEVTPAMQIPRTKEEANGDVFETFMFPCQHCERKFTTKQGLERHMHIHISTVNHAFKCKYCGKAFG +TQINRRRHERRHEAGLKRKPSQTLQPSEDLADGKASGENVASKDDSSPPSLGPDCLIMNSEKASQDTINSSVVEENGEVKELHPCKYCKKVFGTHTNMRR +HQRRVHERHLIPKGVRRKGGLEEPQPPAEQAQATQNVYVPSTEPEEEGEADDVYIMDISSNISENLNYYIDGKIQTNNNTSNCDVIEMESASADLYGINC +LLTPVTVEITQNIKTTQVPVTEDLPKEPLGSTNSEAKKRRTASPPALPKIKAETDSDPMVPSCSLSLPLSISTTEAVSFHKEKSVYLSSKLKQLLQTQDK +LTPAGISATEIAKLGPVCVSAPASMLPVTSSRFKRRTSSPPSSPQHSPALRDFGKPSDGKAAWTDAGLTSKKSKLESHSDSPAWSLSGRDERETVSPPCF +DEYKMSKEWTASSAFSSVCNQQPLDLSSGVKQKAEGTGKTPVQWESVLDLSVHKKHCSDSEGKEFKESHSVQPTCSAVKKRKPTTCMLQKVLLNEYNGID +LPVENPADGTRSPSPCKSLEAQPDPDLGPGSGFPAPTVESTPDVCPSSPALQTPSLSSGQLPPLLIPTDPSSPPPCPPVLTVATPPPPLLPTVPLPAPSS +SASPHPCPSPLSNATAQSPLPILSPTVSPSPSPIPPVEPLMSAASPGPPTLSSSSSSSSSSSSFSSSSSSSSPSPPPLSAISSVVSSGDNLEASLPMISF +KQEELENEGLKPREEPQSAAEQDVVVQETFNKNFVCNVCESPFLSIKDLTKHLSIHAEEWPFKCEFCVQLFKDKTDLSEHRFLLHGVGNIFVCSVCKKEF +AFLCNLQQHQRDLHPDKVCTHHEFESGTLRPQNFTDPSKAHVEHMQSLPEDPLETSKEEEELNDSSEELYTTIKIMASGIKTKDPDVRLGLNQHYPSFKP +PPFQYHHRNPMGIGVTATNFTTHNIPQTFTTAIRCTKCGKGVDNMPELHKHILACASASDKKRYTPKKNPVPLKQTVQPKNGVVVLDNSGKNAFRRMGQP +KRLNFSVELSKMSSNKLKLNALKKKNQLVQKAILQKNKSAKQKADLKNACESSSHICPYCNREFTYIGSLNKHAAFSCPKKPLSPPKKKVSHSSKKGGHS +SPASSDKNSNSNHRRRTADAEIKMQSMQTPLGKTRARSSGPTQVPLPSSSFRSKQNVKFAASVKSKKPSSSSLRNSSPIRMAKITHVEGKKPKAVAKNHS +AQLSSKTSRSLHVRVQKSKAVLQSKSTLASKKRTDRFNIKSRERSGGPVTRSLQLAAAADLSENKREDGSAKQELKDFRNFL* +>line294 NM_015866 c.2104_2105insCTC p.P703_A704insP protein-altering (position 703-704 has insertion P) +MNQNTTEPVAATETLAEVPEHVLRGLPEEVRLFPSAVDKTRIGVWATKPILKGKKFGPFVGDKKKRSQVKNNVYMWEVYYPNLGWMCIDATDPEKGNWLR +YVNWACSGEEQNLFPLEINRAIYYKTLKPIAPGEELLVWYNGEDNPEIAAAIEEERASARSKRSSPKSRKGKKKSQENKNKGNKIQDIQLKTSEPDFTSA +NMRDSAEGPKEDEEKPSASALEQPATLQEVASQEVPPELATPAPAWEPQPEPDERLEAAACEVNDLGEEEEEEEEEDEEEEEDDDDDELEDEGEEEASMP +NENSVKEPEIRCDEKPEDLLEEPKTTSEETLEDCSEVTPAMQIPRTKEEANGDVFETFMFPCQHCERKFTTKQGLERHMHIHISTVNHAFKCKYCGKAFG +TQINRRRHERRHEAGLKRKPSQTLQPSEDLADGKASGENVASKDDSSPPSLGPDCLIMNSEKASQDTINSSVVEENGEVKELHPCKYCKKVFGTHTNMRR +HQRRVHERHLIPKGVRRKGGLEEPQPPAEQAQATQNVYVPSTEPEEEGEADDVYIMDISSNISENLNYYIDGKIQTNNNTSNCDVIEMESASADLYGINC +LLTPVTVEITQNIKTTQVPVTEDLPKEPLGSTNSEAKKRRTASPPALPKIKAETDSDPMVPSCSLSLPLSISTTEAVSFHKEKSVYLSSKLKQLLQTQDK +LTPPAGISATEIAKLGPVCVSAPASMLPVTSSRFKRRTSSPPSSPQHSPALRDFGKPSDGKAAWTDAGLTSKKSKLESHSDSPAWSLSGRDERETVSPPC +FDEYKMSKEWTASSAFSSVCNQQPLDLSSGVKQKAEGTGKTPVQWESVLDLSVHKKHCSDSEGKEFKESHSVQPTCSAVKKRKPTTCMLQKVLLNEYNGI +DLPVENPADGTRSPSPCKSLEAQPDPDLGPGSGFPAPTVESTPDVCPSSPALQTPSLSSGQLPPLLIPTDPSSPPPCPPVLTVATPPPPLLPTVPLPAPS +SSASPHPCPSPLSNATAQSPLPILSPTVSPSPSPIPPVEPLMSAASPGPPTLSSSSSSSSSSSSFSSSSSSSSPSPPPLSAISSVVSSGDNLEASLPMIS +FKQEELENEGLKPREEPQSAAEQDVVVQETFNKNFVCNVCESPFLSIKDLTKHLSIHAEEWPFKCEFCVQLFKDKTDLSEHRFLLHGVGNIFVCSVCKKE +FAFLCNLQQHQRDLHPDKVCTHHEFESGTLRPQNFTDPSKAHVEHMQSLPEDPLETSKEEEELNDSSEELYTTIKIMASGIKTKDPDVRLGLNQHYPSFK +PPPFQYHHRNPMGIGVTATNFTTHNIPQTFTTAIRCTKCGKGVDNMPELHKHILACASASDKKRYTPKKNPVPLKQTVQPKNGVVVLDNSGKNAFRRMGQ +PKRLNFSVELSKMSSNKLKLNALKKKNQLVQKAILQKNKSAKQKADLKNACESSSHICPYCNREFTYIGSLNKHAAFSCPKKPLSPPKKKVSHSSKKGGH +SSPASSDKNSNSNHRRRTADAEIKMQSMQTPLGKTRARSSGPTQVPLPSSSFRSKQNVKFAASVKSKKPSSSSLRNSSPIRMAKITHVEGKKPKAVAKNH +SAQLSSKTSRSLHVRVQKSKAVLQSKSTLASKKRTDRFNIKSRERSGGPVTRSLQLAAAADLSENKREDGSAKQELKDFRNFL* +>line320 NM_000085 WILDTYPE +MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQWLYREIGDSHLLRYLSWTVYP +VALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGSTLFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEM +LVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVWDYWRGFFAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYL +FCQRIFFGFIRNNRFSSKLLATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFG +TLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAFEVTGQIVHALP +VLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAKDMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLV +QALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKLSPETSLHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK* +>line320 NM_000085 c.641_642GC p.A214G protein-altering (position 214 changed from A to G) +MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQWLYREIGDSHLLRYLSWTVYP +VALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGSTLFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEM +LVAAAAVGVATVFGAPFSGVLFSIEVMSSHFSVWDYWRGFFAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYL +FCQRIFFGFIRNNRFSSKLLATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFG +TLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAFEVTGQIVHALP +VLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAKDMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLV +QALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKLSPETSLHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK* +>line488 NM_001083621 WILDTYPE +MELPNYSRQLLQQLYTLCKEQQFCDCTISIGTIYFRAHKLVLAAASLLFKTLLDNTDTISIDASVVSPEEFALLLEMMYTGKLPVGKHNFSKIISLADSL +QMFDVAVSCKNLLTSLVNCSVQGQVVRDVSAPSSETFRKEPEKPQVEILSSEGAGEPHSSPELAATPGGPVKAETEEAAHSVSQEMSVNSPTAQESQRNA +ETPAETPTTAEACSPSPAVQTFSEAKKTSTEPGCERKHYQLNFLLENEGVFSDALMVTQDVLKKLEMCSEIKGPQKEMIVKCFEGEGGHSAFQRILGKVR +EESLDVQTVVSLLRLYQYSNPAVKTALLDRKPEDVDTVQPKGSTEEGKTLSVLLLEHKEDLIQCVTQLRPIMESLETAKEEFLTGTEKRVILNCCEGRTP +KETIENLLHRMTEEKTLTAEGLVKLLQAVKTTFPNLGLLLEKLQKSATLPSTTVQPSPDDYGTELLRRYHENLSEIFTDNQILLKMISHMTSLAPGEREV +MEKLVKRDSGSGGFNSLISAVLEKQTLSATAIWQLLLVVQETKTCPLDLLMEEIRREPGADAFFRAVTTPEHATLETILRHNQLILEAIQQKIEYKLFTS +EEEHLAETVKEILSIPSETASPEASLRAVLSRAMEKSVPAIEICHLLCSVHKSFPGLQPVMQELAYIGVLTKEDGEKETWKVSNKFHLEANNKEDEKAAK +EDSQPGEQNDQGETGSLPGQQEKEASASPDPAKKSFICKACDKSFHFYCRLKVHMKRCRVAKSKQVQCKECSETKDSKKELDKHQLEAHGAGGEPDAPKK +KKKRLPVTCDLCGREFAHASGMQYHKLTEHFDEKPFSCEECGAKFAANSTLKNHLRLHTGDRPFMCKHCLMTFTQASALAYHTKKKHSEGKMYACQYCDA +VFAQSIELSRHVRTHTGDKPYVCRDCGKGFRQANGLSIHLHTFHNIEDPYDCKKCRMSFPTLQDHRKHIHEVHSKEYHPCPTCGKIFSAPSMLERHVVTH +VGGKPFSCGICNKAYQQLSGLWYHNRTHHPDVFAAQNHRSSKFSSLQCSSCDKTFPNTIEHKKHIKAEHADMKFHECDQCKELFPTPALLQVHVKCQHSG +SQPFRCLYCAATFRFPGALQHHVTTEHFKQSETTFPCELCGELFTSQAQLDSHLESEHPKVMSTETQAAASQMAQVIQTPEPVAPTEQVITLEETQLAGS +QVFVTLPDSQASQASSELVAVTVEDLLDGTVTLICGEAK* +>line488 NM_001083621 c.2395_2397del p.K803del protein-altering (position 803 changed from K to ) +MELPNYSRQLLQQLYTLCKEQQFCDCTISIGTIYFRAHKLVLAAASLLFKTLLDNTDTISIDASVVSPEEFALLLEMMYTGKLPVGKHNFSKIISLADSL +QMFDVAVSCKNLLTSLVNCSVQGQVVRDVSAPSSETFRKEPEKPQVEILSSEGAGEPHSSPELAATPGGPVKAETEEAAHSVSQEMSVNSPTAQESQRNA +ETPAETPTTAEACSPSPAVQTFSEAKKTSTEPGCERKHYQLNFLLENEGVFSDALMVTQDVLKKLEMCSEIKGPQKEMIVKCFEGEGGHSAFQRILGKVR +EESLDVQTVVSLLRLYQYSNPAVKTALLDRKPEDVDTVQPKGSTEEGKTLSVLLLEHKEDLIQCVTQLRPIMESLETAKEEFLTGTEKRVILNCCEGRTP +KETIENLLHRMTEEKTLTAEGLVKLLQAVKTTFPNLGLLLEKLQKSATLPSTTVQPSPDDYGTELLRRYHENLSEIFTDNQILLKMISHMTSLAPGEREV +MEKLVKRDSGSGGFNSLISAVLEKQTLSATAIWQLLLVVQETKTCPLDLLMEEIRREPGADAFFRAVTTPEHATLETILRHNQLILEAIQQKIEYKLFTS +EEEHLAETVKEILSIPSETASPEASLRAVLSRAMEKSVPAIEICHLLCSVHKSFPGLQPVMQELAYIGVLTKEDGEKETWKVSNKFHLEANNKEDEKAAK +EDSQPGEQNDQGETGSLPGQQEKEASASPDPAKKSFICKACDKSFHFYCRLKVHMKRCRVAKSKQVQCKECSETKDSKKELDKHQLEAHGAGGEPDAPKK +KKRLPVTCDLCGREFAHASGMQYHKLTEHFDEKPFSCEECGAKFAANSTLKNHLRLHTGDRPFMCKHCLMTFTQASALAYHTKKKHSEGKMYACQYCDAV +FAQSIELSRHVRTHTGDKPYVCRDCGKGFRQANGLSIHLHTFHNIEDPYDCKKCRMSFPTLQDHRKHIHEVHSKEYHPCPTCGKIFSAPSMLERHVVTHV +GGKPFSCGICNKAYQQLSGLWYHNRTHHPDVFAAQNHRSSKFSSLQCSSCDKTFPNTIEHKKHIKAEHADMKFHECDQCKELFPTPALLQVHVKCQHSGS +QPFRCLYCAATFRFPGALQHHVTTEHFKQSETTFPCELCGELFTSQAQLDSHLESEHPKVMSTETQAAASQMAQVIQTPEPVAPTEQVITLEETQLAGSQ +VFVTLPDSQASQASSELVAVTVEDLLDGTVTLICGEAK* +>line544 NM_001297647 WILDTYPE +MEPVETWTPGKVATWLRGLDDSLQDYPFEDWQLPGKNLLQLCPQSLEALAVRSLGHQELILGGVEQLQALSSRLQTENLQSLTEGLLGATHDFQSIVQGC +LGDCAKTPIDVLCAAVELLHEADALLFWLSRYLFSHLNDFSACQEIRDLLEELSQVLHEDGPAAEKEGTVLRICSHVAGICHNILVCCPKELLEQKAVLE +QVQLDSPLGLEIHTTSNCQHFVSQVDTQVPTDSRLQIQPGDEVVQINEQVVVREERDMVGWPRKNMVRELLREPAGLSLVLKKIPIPETPPQTPPQVLDS +PHQRSPSLSLAPLSPRAPSEDVFAFDLSSNPSPGPSPAWTDSASLGPEPLPIPPEPPAILPAGVAGTPGLPESPDKSPVGRKKSKGLATRLSRRRVSCRE +LGRPDCDGWLLLRKAPGGFMGPRWRRRWFVLKGHTLYWYRQPQDEKAEGLINVSNYSLESGHDQKKKYVFQLTHDVYKPFIFAADTLTDLSMWVRHLITC +ISKYQSPGRAPPPREEDCYSETEAEDPDDEAGSHSASPSPAQAGSPLHGDTSPAATPTQRSPRTSFGSLTDSSEEALEGMVRGLRQGGVSLLGQPQPLTQ +EQWRSSFMRRNRDPQLNERVHRVRALQSTLKAKLQELQVLEEVLGDPELTGEKFRQWKEQNRELYSEGLGAWGVAQAEGSSHILTSDSTEQSPHSLPSDP +EEHSHLCPLTSESSLRPPDL* +>line544 NM_001297647 c.866delC p.P291Hfs*73 protein-altering (position 291-720 changed from PQTPPQVLDSPHQRSPSLSLAPLSPRAPSEDVFAFDLSSNPSPGPSPAWTDSASLGPEPLPIPPEPPAILPAGVAGTPGLPESPDKSPVGRKKSKGLATRLSRRRVSCRELGRPDCDGWLLLRKAPGGFMGPRWRRRWFVLKGHTLYWYRQPQDEKAEGLINVSNYSLESGHDQKKKYVFQLTHDVYKPFIFAADTLTDLSMWVRHLITCISKYQSPGRAPPPREEDCYSETEAEDPDDEAGSHSASPSPAQAGSPLHGDTSPAATPTQRSPRTSFGSLTDSSEEALEGMVRGLRQGGVSLLGQPQPLTQEQWRSSFMRRNRDPQLNERVHRVRALQSTLKAKLQELQVLEEVLGDPELTGEKFRQWKEQNRELYSEGLGAWGVAQAEGSSHILTSDSTEQSPHSLPSDPEEHSHLCPLTSESSLRPPDL to HRRPLRSWTPRTRGAHHCLWPHCLPGPHLKTSLPLTCLQTPVPDPALPGQTLPPLALSPCPSPRNPQPYSQQG) +MEPVETWTPGKVATWLRGLDDSLQDYPFEDWQLPGKNLLQLCPQSLEALAVRSLGHQELILGGVEQLQALSSRLQTENLQSLTEGLLGATHDFQSIVQGC +LGDCAKTPIDVLCAAVELLHEADALLFWLSRYLFSHLNDFSACQEIRDLLEELSQVLHEDGPAAEKEGTVLRICSHVAGICHNILVCCPKELLEQKAVLE +QVQLDSPLGLEIHTTSNCQHFVSQVDTQVPTDSRLQIQPGDEVVQINEQVVVREERDMVGWPRKNMVRELLREPAGLSLVLKKIPIPETPHRRPLRSWTP +RTRGAHHCLWPHCLPGPHLKTSLPLTCLQTPVPDPALPGQTLPPLALSPCPSPRNPQPYSQQG* +>line556 NM_001039775 WILDTYPE +MEEAGGPMARAKARVVSATLTWRQRPPTQEEIKHGFHKVSLVSGAQMEAPQKEMFEFSRREEVEVNGFATQEEETVNCQGPRDTAGSKNFQSHGPIFSKK +YIPPPKEKRPEGRLKEAVDQSDGSRQAPRTEPPCVGAMARTELLVPLPGPREPSPHPGVGLTSGSSRSLEEYRVTRTVRTTTVVGGHVDRRMSSSVTVRP +VSSGEALPRGRQVSRMVPPVVVGSPPGSPSRSQAVKVLSNLVPAGHSPPASHLPRPTAGGPRSTGLGSTVGAALRQLPETGTAELKDSSALASTGIPASA +HLPKNQDAPAACPDRDQGRAPDARACELWQVLGAPSSTELPLQTSQGQASVPSSPRLETHVPSPGLTHPAKQPVVPTHPGARLTPLVLPPKKKDGPVDPP +AATVLPMVRSEHVTVPGQPPAPSTTRRKDVPSPGGLSAPSSPRNKFVQNSENVPVLPFTQREVVKGPGAPAASSPTRKEVVQGSSASAASSPTWKEVVKG +PGAPAASSPTQKEVVQGSSAPAALFPTWKEVVKGPGAPDASFPTWKEVVKGPGAPAASSPTQKEVVQGSGAPAALSTTPKEVVKGPGAPAASSPTQKEVV +KGPCAPAASSPTQKEVVQGSGAPAALSPKSTEVVQGPKGSSSIQKEAVQGIAGSLAPPLTKEETVQGPIAPATSLPKQDKGVQDSEGSPISSLTQKEVVQ +DPDALPAPSSSVDRVSPSPGGTPAPVPTGAEASTESQLVSDPTEGKTCTETSREEDEVALAADLEIFLDTLRSMEPPEILRTHRLPRAPRSSYLSMYATL +PAIEEDQLGPWVLGPGPQEVPSLEEKEEEEEEEPENPYLSDDEKLQRRQEKAGPSPSRDLHPARPTQVSCSPLEMMKKHVAGTKGPHSELGLELQGGSRP +TSRLGGSLLFGSLVPTAKEASTPEPLGTKLSALLPHGAPGLRKVPGQLPLLCSERSSPTEKLACSLPLEGWSPALKTQGKLNTRPGKVIFFSESGCQGSG +REVWGDIVDASGWAPVASIRVVRGCWVLYEEPEFRGQKLVLPEGDMELRTPGTKWSPQGIGSLRRVVWDYSTPEISLFSEEGLKGEQVKLTEALKNSQGL +EKPLQVASATVSAGLWLLYPKPLFEDTPYILEPGEYPTSEAWGTSDPSVGSLKPMRLGCPSVEKPGEPRAVVYEAPGFQGRSWEVSRDIYNLQQPEDSQS +PHLASVGSLRVLGGCWVGYEKEGFRGHQYLLEEGEYPDWSHWGGYDELLTSLRVIRTDFGDPAVVLFEAMDFEGHGVEVSKALPDVELVQHGPSTQAIHV +LSGVWVAYQEVGFSGEQYVLEKGVYRNCEDWGAGNSTLASLQPVLQVGEHDLHFVSKIQLFSRPDFLGDHFSFEDDQAALPASFRPQSCRVHGGSWILFD +ETNFEGDQHILSEGEFPTLTAMGCLASTVLGSLQKVSLHFSEPSIFLYGLECFEGKEIELSREVRSLQAEGFNNHVLSVRIKGGIWVLCEHSDFRGRQWL +VGSCEITNWLTYSGTQRVGSLYPIKQRRVYFRLWNAALGGFLAVPDHVEDMKAGRVVVADPQAGGSCIWYYEDGLLKNQMAPTMSLQVIGPPSPGSKVVL +WAESRLPRQTWSISESGHICSQMFEGQILDVKGGRGYDRDHVVLWEPDEDRASQIWTIHVL* +>line556 NM_001039775 c.1614_1626del p.D539Pfs*5 protein-altering (position 539-1660 changed from DASFPTWKEVVKGPGAPAASSPTQKEVVQGSGAPAALSTTPKEVVKGPGAPAASSPTQKEVVKGPCAPAASSPTQKEVVQGSGAPAALSPKSTEVVQGPKGSSSIQKEAVQGIAGSLAPPLTKEETVQGPIAPATSLPKQDKGVQDSEGSPISSLTQKEVVQDPDALPAPSSSVDRVSPSPGGTPAPVPTGAEASTESQLVSDPTEGKTCTETSREEDEVALAADLEIFLDTLRSMEPPEILRTHRLPRAPRSSYLSMYATLPAIEEDQLGPWVLGPGPQEVPSLEEKEEEEEEEPENPYLSDDEKLQRRQEKAGPSPSRDLHPARPTQVSCSPLEMMKKHVAGTKGPHSELGLELQGGSRPTSRLGGSLLFGSLVPTAKEASTPEPLGTKLSALLPHGAPGLRKVPGQLPLLCSERSSPTEKLACSLPLEGWSPALKTQGKLNTRPGKVIFFSESGCQGSGREVWGDIVDASGWAPVASIRVVRGCWVLYEEPEFRGQKLVLPEGDMELRTPGTKWSPQGIGSLRRVVWDYSTPEISLFSEEGLKGEQVKLTEALKNSQGLEKPLQVASATVSAGLWLLYPKPLFEDTPYILEPGEYPTSEAWGTSDPSVGSLKPMRLGCPSVEKPGEPRAVVYEAPGFQGRSWEVSRDIYNLQQPEDSQSPHLASVGSLRVLGGCWVGYEKEGFRGHQYLLEEGEYPDWSHWGGYDELLTSLRVIRTDFGDPAVVLFEAMDFEGHGVEVSKALPDVELVQHGPSTQAIHVLSGVWVAYQEVGFSGEQYVLEKGVYRNCEDWGAGNSTLASLQPVLQVGEHDLHFVSKIQLFSRPDFLGDHFSFEDDQAALPASFRPQSCRVHGGSWILFDETNFEGDQHILSEGEFPTLTAMGCLASTVLGSLQKVSLHFSEPSIFLYGLECFEGKEIELSREVRSLQAEGFNNHVLSVRIKGGIWVLCEHSDFRGRQWLVGSCEITNWLTYSGTQRVGSLYPIKQRRVYFRLWNAALGGFLAVPDHVEDMKAGRVVVADPQAGGSCIWYYEDGLLKNQMAPTMSLQVIGPPSPGSKVVLWAESRLPRQTWSISESGHICSQMFEGQILDVKGGRGYDRDHVVLWEPDEDRASQIWTIHV to PPGKR) +MEEAGGPMARAKARVVSATLTWRQRPPTQEEIKHGFHKVSLVSGAQMEAPQKEMFEFSRREEVEVNGFATQEEETVNCQGPRDTAGSKNFQSHGPIFSKK +YIPPPKEKRPEGRLKEAVDQSDGSRQAPRTEPPCVGAMARTELLVPLPGPREPSPHPGVGLTSGSSRSLEEYRVTRTVRTTTVVGGHVDRRMSSSVTVRP +VSSGEALPRGRQVSRMVPPVVVGSPPGSPSRSQAVKVLSNLVPAGHSPPASHLPRPTAGGPRSTGLGSTVGAALRQLPETGTAELKDSSALASTGIPASA +HLPKNQDAPAACPDRDQGRAPDARACELWQVLGAPSSTELPLQTSQGQASVPSSPRLETHVPSPGLTHPAKQPVVPTHPGARLTPLVLPPKKKDGPVDPP +AATVLPMVRSEHVTVPGQPPAPSTTRRKDVPSPGGLSAPSSPRNKFVQNSENVPVLPFTQREVVKGPGAPAASSPTRKEVVQGSSASAASSPTWKEVVKG +PGAPAASSPTQKEVVQGSSAPAALFPTWKEVVKGPGAPPPGKRL* +>line557 NM_001039775 WILDTYPE +MEEAGGPMARAKARVVSATLTWRQRPPTQEEIKHGFHKVSLVSGAQMEAPQKEMFEFSRREEVEVNGFATQEEETVNCQGPRDTAGSKNFQSHGPIFSKK +YIPPPKEKRPEGRLKEAVDQSDGSRQAPRTEPPCVGAMARTELLVPLPGPREPSPHPGVGLTSGSSRSLEEYRVTRTVRTTTVVGGHVDRRMSSSVTVRP +VSSGEALPRGRQVSRMVPPVVVGSPPGSPSRSQAVKVLSNLVPAGHSPPASHLPRPTAGGPRSTGLGSTVGAALRQLPETGTAELKDSSALASTGIPASA +HLPKNQDAPAACPDRDQGRAPDARACELWQVLGAPSSTELPLQTSQGQASVPSSPRLETHVPSPGLTHPAKQPVVPTHPGARLTPLVLPPKKKDGPVDPP +AATVLPMVRSEHVTVPGQPPAPSTTRRKDVPSPGGLSAPSSPRNKFVQNSENVPVLPFTQREVVKGPGAPAASSPTRKEVVQGSSASAASSPTWKEVVKG +PGAPAASSPTQKEVVQGSSAPAALFPTWKEVVKGPGAPDASFPTWKEVVKGPGAPAASSPTQKEVVQGSGAPAALSTTPKEVVKGPGAPAASSPTQKEVV +KGPCAPAASSPTQKEVVQGSGAPAALSPKSTEVVQGPKGSSSIQKEAVQGIAGSLAPPLTKEETVQGPIAPATSLPKQDKGVQDSEGSPISSLTQKEVVQ +DPDALPAPSSSVDRVSPSPGGTPAPVPTGAEASTESQLVSDPTEGKTCTETSREEDEVALAADLEIFLDTLRSMEPPEILRTHRLPRAPRSSYLSMYATL +PAIEEDQLGPWVLGPGPQEVPSLEEKEEEEEEEPENPYLSDDEKLQRRQEKAGPSPSRDLHPARPTQVSCSPLEMMKKHVAGTKGPHSELGLELQGGSRP +TSRLGGSLLFGSLVPTAKEASTPEPLGTKLSALLPHGAPGLRKVPGQLPLLCSERSSPTEKLACSLPLEGWSPALKTQGKLNTRPGKVIFFSESGCQGSG +REVWGDIVDASGWAPVASIRVVRGCWVLYEEPEFRGQKLVLPEGDMELRTPGTKWSPQGIGSLRRVVWDYSTPEISLFSEEGLKGEQVKLTEALKNSQGL +EKPLQVASATVSAGLWLLYPKPLFEDTPYILEPGEYPTSEAWGTSDPSVGSLKPMRLGCPSVEKPGEPRAVVYEAPGFQGRSWEVSRDIYNLQQPEDSQS +PHLASVGSLRVLGGCWVGYEKEGFRGHQYLLEEGEYPDWSHWGGYDELLTSLRVIRTDFGDPAVVLFEAMDFEGHGVEVSKALPDVELVQHGPSTQAIHV +LSGVWVAYQEVGFSGEQYVLEKGVYRNCEDWGAGNSTLASLQPVLQVGEHDLHFVSKIQLFSRPDFLGDHFSFEDDQAALPASFRPQSCRVHGGSWILFD +ETNFEGDQHILSEGEFPTLTAMGCLASTVLGSLQKVSLHFSEPSIFLYGLECFEGKEIELSREVRSLQAEGFNNHVLSVRIKGGIWVLCEHSDFRGRQWL +VGSCEITNWLTYSGTQRVGSLYPIKQRRVYFRLWNAALGGFLAVPDHVEDMKAGRVVVADPQAGGSCIWYYEDGLLKNQMAPTMSLQVIGPPSPGSKVVL +WAESRLPRQTWSISESGHICSQMFEGQILDVKGGRGYDRDHVVLWEPDEDRASQIWTIHVL* +>line557 NM_001039775 c.1607_1610del p.G536Vfs*11 protein-altering (position 536-1660 changed from GAPDASFPTWKEVVKGPGAPAASSPTQKEVVQGSGAPAALSTTPKEVVKGPGAPAASSPTQKEVVKGPCAPAASSPTQKEVVQGSGAPAALSPKSTEVVQGPKGSSSIQKEAVQGIAGSLAPPLTKEETVQGPIAPATSLPKQDKGVQDSEGSPISSLTQKEVVQDPDALPAPSSSVDRVSPSPGGTPAPVPTGAEASTESQLVSDPTEGKTCTETSREEDEVALAADLEIFLDTLRSMEPPEILRTHRLPRAPRSSYLSMYATLPAIEEDQLGPWVLGPGPQEVPSLEEKEEEEEEEPENPYLSDDEKLQRRQEKAGPSPSRDLHPARPTQVSCSPLEMMKKHVAGTKGPHSELGLELQGGSRPTSRLGGSLLFGSLVPTAKEASTPEPLGTKLSALLPHGAPGLRKVPGQLPLLCSERSSPTEKLACSLPLEGWSPALKTQGKLNTRPGKVIFFSESGCQGSGREVWGDIVDASGWAPVASIRVVRGCWVLYEEPEFRGQKLVLPEGDMELRTPGTKWSPQGIGSLRRVVWDYSTPEISLFSEEGLKGEQVKLTEALKNSQGLEKPLQVASATVSAGLWLLYPKPLFEDTPYILEPGEYPTSEAWGTSDPSVGSLKPMRLGCPSVEKPGEPRAVVYEAPGFQGRSWEVSRDIYNLQQPEDSQSPHLASVGSLRVLGGCWVGYEKEGFRGHQYLLEEGEYPDWSHWGGYDELLTSLRVIRTDFGDPAVVLFEAMDFEGHGVEVSKALPDVELVQHGPSTQAIHVLSGVWVAYQEVGFSGEQYVLEKGVYRNCEDWGAGNSTLASLQPVLQVGEHDLHFVSKIQLFSRPDFLGDHFSFEDDQAALPASFRPQSCRVHGGSWILFDETNFEGDQHILSEGEFPTLTAMGCLASTVLGSLQKVSLHFSEPSIFLYGLECFEGKEIELSREVRSLQAEGFNNHVLSVRIKGGIWVLCEHSDFRGRQWLVGSCEITNWLTYSGTQRVGSLYPIKQRRVYFRLWNAALGGFLAVPDHVEDMKAGRVVVADPQAGGSCIWYYEDGLLKNQMAPTMSLQVIGPPSPGSKVVLWAESRLPRQTWSISESGHICSQMFEGQILDVKGGRGYDRDHVVLWEPDEDRASQIWTIHV to VLMPHFPPGKR) +MEEAGGPMARAKARVVSATLTWRQRPPTQEEIKHGFHKVSLVSGAQMEAPQKEMFEFSRREEVEVNGFATQEEETVNCQGPRDTAGSKNFQSHGPIFSKK +YIPPPKEKRPEGRLKEAVDQSDGSRQAPRTEPPCVGAMARTELLVPLPGPREPSPHPGVGLTSGSSRSLEEYRVTRTVRTTTVVGGHVDRRMSSSVTVRP +VSSGEALPRGRQVSRMVPPVVVGSPPGSPSRSQAVKVLSNLVPAGHSPPASHLPRPTAGGPRSTGLGSTVGAALRQLPETGTAELKDSSALASTGIPASA +HLPKNQDAPAACPDRDQGRAPDARACELWQVLGAPSSTELPLQTSQGQASVPSSPRLETHVPSPGLTHPAKQPVVPTHPGARLTPLVLPPKKKDGPVDPP +AATVLPMVRSEHVTVPGQPPAPSTTRRKDVPSPGGLSAPSSPRNKFVQNSENVPVLPFTQREVVKGPGAPAASSPTRKEVVQGSSASAASSPTWKEVVKG +PGAPAASSPTQKEVVQGSSAPAALFPTWKEVVKGPVLMPHFPPGKRL* +>line558 NM_001039775 WILDTYPE +MEEAGGPMARAKARVVSATLTWRQRPPTQEEIKHGFHKVSLVSGAQMEAPQKEMFEFSRREEVEVNGFATQEEETVNCQGPRDTAGSKNFQSHGPIFSKK +YIPPPKEKRPEGRLKEAVDQSDGSRQAPRTEPPCVGAMARTELLVPLPGPREPSPHPGVGLTSGSSRSLEEYRVTRTVRTTTVVGGHVDRRMSSSVTVRP +VSSGEALPRGRQVSRMVPPVVVGSPPGSPSRSQAVKVLSNLVPAGHSPPASHLPRPTAGGPRSTGLGSTVGAALRQLPETGTAELKDSSALASTGIPASA +HLPKNQDAPAACPDRDQGRAPDARACELWQVLGAPSSTELPLQTSQGQASVPSSPRLETHVPSPGLTHPAKQPVVPTHPGARLTPLVLPPKKKDGPVDPP +AATVLPMVRSEHVTVPGQPPAPSTTRRKDVPSPGGLSAPSSPRNKFVQNSENVPVLPFTQREVVKGPGAPAASSPTRKEVVQGSSASAASSPTWKEVVKG +PGAPAASSPTQKEVVQGSSAPAALFPTWKEVVKGPGAPDASFPTWKEVVKGPGAPAASSPTQKEVVQGSGAPAALSTTPKEVVKGPGAPAASSPTQKEVV +KGPCAPAASSPTQKEVVQGSGAPAALSPKSTEVVQGPKGSSSIQKEAVQGIAGSLAPPLTKEETVQGPIAPATSLPKQDKGVQDSEGSPISSLTQKEVVQ +DPDALPAPSSSVDRVSPSPGGTPAPVPTGAEASTESQLVSDPTEGKTCTETSREEDEVALAADLEIFLDTLRSMEPPEILRTHRLPRAPRSSYLSMYATL +PAIEEDQLGPWVLGPGPQEVPSLEEKEEEEEEEPENPYLSDDEKLQRRQEKAGPSPSRDLHPARPTQVSCSPLEMMKKHVAGTKGPHSELGLELQGGSRP +TSRLGGSLLFGSLVPTAKEASTPEPLGTKLSALLPHGAPGLRKVPGQLPLLCSERSSPTEKLACSLPLEGWSPALKTQGKLNTRPGKVIFFSESGCQGSG +REVWGDIVDASGWAPVASIRVVRGCWVLYEEPEFRGQKLVLPEGDMELRTPGTKWSPQGIGSLRRVVWDYSTPEISLFSEEGLKGEQVKLTEALKNSQGL +EKPLQVASATVSAGLWLLYPKPLFEDTPYILEPGEYPTSEAWGTSDPSVGSLKPMRLGCPSVEKPGEPRAVVYEAPGFQGRSWEVSRDIYNLQQPEDSQS +PHLASVGSLRVLGGCWVGYEKEGFRGHQYLLEEGEYPDWSHWGGYDELLTSLRVIRTDFGDPAVVLFEAMDFEGHGVEVSKALPDVELVQHGPSTQAIHV +LSGVWVAYQEVGFSGEQYVLEKGVYRNCEDWGAGNSTLASLQPVLQVGEHDLHFVSKIQLFSRPDFLGDHFSFEDDQAALPASFRPQSCRVHGGSWILFD +ETNFEGDQHILSEGEFPTLTAMGCLASTVLGSLQKVSLHFSEPSIFLYGLECFEGKEIELSREVRSLQAEGFNNHVLSVRIKGGIWVLCEHSDFRGRQWL +VGSCEITNWLTYSGTQRVGSLYPIKQRRVYFRLWNAALGGFLAVPDHVEDMKAGRVVVADPQAGGSCIWYYEDGLLKNQMAPTMSLQVIGPPSPGSKVVL +WAESRLPRQTWSISESGHICSQMFEGQILDVKGGRGYDRDHVVLWEPDEDRASQIWTIHVL* +>line558 NM_001039775 c.1571_1604del p.L524Sfs*13 protein-altering (position 524-1660 changed from LFPTWKEVVKGPGAPDASFPTWKEVVKGPGAPAASSPTQKEVVQGSGAPAALSTTPKEVVKGPGAPAASSPTQKEVVKGPCAPAASSPTQKEVVQGSGAPAALSPKSTEVVQGPKGSSSIQKEAVQGIAGSLAPPLTKEETVQGPIAPATSLPKQDKGVQDSEGSPISSLTQKEVVQDPDALPAPSSSVDRVSPSPGGTPAPVPTGAEASTESQLVSDPTEGKTCTETSREEDEVALAADLEIFLDTLRSMEPPEILRTHRLPRAPRSSYLSMYATLPAIEEDQLGPWVLGPGPQEVPSLEEKEEEEEEEPENPYLSDDEKLQRRQEKAGPSPSRDLHPARPTQVSCSPLEMMKKHVAGTKGPHSELGLELQGGSRPTSRLGGSLLFGSLVPTAKEASTPEPLGTKLSALLPHGAPGLRKVPGQLPLLCSERSSPTEKLACSLPLEGWSPALKTQGKLNTRPGKVIFFSESGCQGSGREVWGDIVDASGWAPVASIRVVRGCWVLYEEPEFRGQKLVLPEGDMELRTPGTKWSPQGIGSLRRVVWDYSTPEISLFSEEGLKGEQVKLTEALKNSQGLEKPLQVASATVSAGLWLLYPKPLFEDTPYILEPGEYPTSEAWGTSDPSVGSLKPMRLGCPSVEKPGEPRAVVYEAPGFQGRSWEVSRDIYNLQQPEDSQSPHLASVGSLRVLGGCWVGYEKEGFRGHQYLLEEGEYPDWSHWGGYDELLTSLRVIRTDFGDPAVVLFEAMDFEGHGVEVSKALPDVELVQHGPSTQAIHVLSGVWVAYQEVGFSGEQYVLEKGVYRNCEDWGAGNSTLASLQPVLQVGEHDLHFVSKIQLFSRPDFLGDHFSFEDDQAALPASFRPQSCRVHGGSWILFDETNFEGDQHILSEGEFPTLTAMGCLASTVLGSLQKVSLHFSEPSIFLYGLECFEGKEIELSREVRSLQAEGFNNHVLSVRIKGGIWVLCEHSDFRGRQWLVGSCEITNWLTYSGTQRVGSLYPIKQRRVYFRLWNAALGGFLAVPDHVEDMKAGRVVVADPQAGGSCIWYYEDGLLKNQMAPTMSLQVIGPPSPGSKVVLWAESRLPRQTWSISESGHICSQMFEGQILDVKGGRGYDRDHVVLWEPDEDRASQIWTIHV to SVLLMPHFPPGKR) +MEEAGGPMARAKARVVSATLTWRQRPPTQEEIKHGFHKVSLVSGAQMEAPQKEMFEFSRREEVEVNGFATQEEETVNCQGPRDTAGSKNFQSHGPIFSKK +YIPPPKEKRPEGRLKEAVDQSDGSRQAPRTEPPCVGAMARTELLVPLPGPREPSPHPGVGLTSGSSRSLEEYRVTRTVRTTTVVGGHVDRRMSSSVTVRP +VSSGEALPRGRQVSRMVPPVVVGSPPGSPSRSQAVKVLSNLVPAGHSPPASHLPRPTAGGPRSTGLGSTVGAALRQLPETGTAELKDSSALASTGIPASA +HLPKNQDAPAACPDRDQGRAPDARACELWQVLGAPSSTELPLQTSQGQASVPSSPRLETHVPSPGLTHPAKQPVVPTHPGARLTPLVLPPKKKDGPVDPP +AATVLPMVRSEHVTVPGQPPAPSTTRRKDVPSPGGLSAPSSPRNKFVQNSENVPVLPFTQREVVKGPGAPAASSPTRKEVVQGSSASAASSPTWKEVVKG +PGAPAASSPTQKEVVQGSSAPAASVLLMPHFPPGKRL* +>line731 NM_015038 WILDTYPE +MGKPLSRPDCLRRNPSCLGKGEEEDGYIEDCYVPQRSIYDTMRINEQIDQGSKLNQTSKSTMEKMEGSTISSNGTLGAASNVFESRAPEGKKLDERIIFD +ALKLSSDVQKSAPVPPRRRPNAERKDNVNRRSWKSFMPPNFPEFAERIEASLSEVSEAGASNPSLQEKKESSSALTESSGHLDHREPQSESVTLEHVSKS +IGIPEVQDFKNLSGDCQDFRFQQHSANPPHEFQPVESEAVATSGNTDVMQESRFSSATWPRATKSLAKGGFSEKQHPLGDTACTVEMPPLSPCLSEELLD +PELHVLITPSLREKTESELKFEEDERWIMMEAEGEWEEEKLSDREKTFLMADEKNSLADIFEEREQANTAVVEDGSDCLAAVLRTFGHLSLGQICCPDDP +QPAKDQLATVPKDIPLDCDCVLTGEDILGEVANRTAQGLEGLVSDSACTVGTIDAEQLSDTDSVQMFLELEKECLCEEGVTPLVELQNQISSEGLAASQD +AENLLVISHFSGAALEKEQHLGLLHVRAKDYDTRLDCGYFNTLDSSQVPNAVELIAHVDIMRDTSTVSKEECEKVPFSPRTAEFKSRQPADLDSLEKLDP +GGLLNSDHRVSHEEKLSGFIASELAKDNGSLSQGDCSQTEGNGEECIERVTFSFAFNHELTDVTSGPEVEVLYESNLLTDEIHLESGNVTVNQENNSLTS +MGNVVTCELSVEKVCDEDGEAKELDYQATLLEDQAPAHFHRNFPEQVFQDLQRKSPESEILSLHLLVEELRLNPDGVETVNDTKPELNVASSEGGEMERR +DSDSFLNIFPEKQVTKAGNTEPVLEEWIPVLQRPSRTAAVPTVKDALDAALPSPEEGTSIAAVPAPEGTAVVAALVPFPHEDILVASIVSLEEEDVTAAA +VSAPERATVPAVTVSVPEGTAAVAAVSSPEETAPAVAAAITQEGMSAVAGFSPEWAALAITVPITEEDGTPEGPVTPATTVHAPEEPDTAAVRVSTPEEP +ASPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPPPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPT +PEEPTSPAAAVPTPEEPASPAAAVPTPEEPASPAAAVPTPEEPAFPAPAVPTPEESASAAVAVPTPEESASPAAAVPTPAESASFAAVVATLEEPTSPAA +SVPTPAAMVATLEEFTSPAASVPTSEEPASLAAAVSNPEEPTSPAAAVPTLEEPTSSAAAVLTPEELSSPAASVPTPEEPASPAAAVSNLEEPASPAAAV +PTPEVAAIPAASVPTPEVPAIPAAAVPPMEEVSPIGVPFLGVSAHTDSVPISEEGTPVLEEASSTGMWIKEDLDSLVFGIKEVTSTVLHGKVPLAATAGL +NSDEVIVHFDSGKGLKSKVRFAGLTWW* +>line731 NM_015038 c.2206_2207AA p.P736K protein-altering (position 736 changed from P to K) +MGKPLSRPDCLRRNPSCLGKGEEEDGYIEDCYVPQRSIYDTMRINEQIDQGSKLNQTSKSTMEKMEGSTISSNGTLGAASNVFESRAPEGKKLDERIIFD +ALKLSSDVQKSAPVPPRRRPNAERKDNVNRRSWKSFMPPNFPEFAERIEASLSEVSEAGASNPSLQEKKESSSALTESSGHLDHREPQSESVTLEHVSKS +IGIPEVQDFKNLSGDCQDFRFQQHSANPPHEFQPVESEAVATSGNTDVMQESRFSSATWPRATKSLAKGGFSEKQHPLGDTACTVEMPPLSPCLSEELLD +PELHVLITPSLREKTESELKFEEDERWIMMEAEGEWEEEKLSDREKTFLMADEKNSLADIFEEREQANTAVVEDGSDCLAAVLRTFGHLSLGQICCPDDP +QPAKDQLATVPKDIPLDCDCVLTGEDILGEVANRTAQGLEGLVSDSACTVGTIDAEQLSDTDSVQMFLELEKECLCEEGVTPLVELQNQISSEGLAASQD +AENLLVISHFSGAALEKEQHLGLLHVRAKDYDTRLDCGYFNTLDSSQVPNAVELIAHVDIMRDTSTVSKEECEKVPFSPRTAEFKSRQPADLDSLEKLDP +GGLLNSDHRVSHEEKLSGFIASELAKDNGSLSQGDCSQTEGNGEECIERVTFSFAFNHELTDVTSGPEVEVLYESNLLTDEIHLESGNVTVNQENNSLTS +MGNVVTCELSVEKVCDEDGEAKELDYQATLLEDQAKAHFHRNFPEQVFQDLQRKSPESEILSLHLLVEELRLNPDGVETVNDTKPELNVASSEGGEMERR +DSDSFLNIFPEKQVTKAGNTEPVLEEWIPVLQRPSRTAAVPTVKDALDAALPSPEEGTSIAAVPAPEGTAVVAALVPFPHEDILVASIVSLEEEDVTAAA +VSAPERATVPAVTVSVPEGTAAVAAVSSPEETAPAVAAAITQEGMSAVAGFSPEWAALAITVPITEEDGTPEGPVTPATTVHAPEEPDTAAVRVSTPEEP +ASPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPPPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPT +PEEPTSPAAAVPTPEEPASPAAAVPTPEEPASPAAAVPTPEEPAFPAPAVPTPEESASAAVAVPTPEESASPAAAVPTPAESASFAAVVATLEEPTSPAA +SVPTPAAMVATLEEFTSPAASVPTSEEPASLAAAVSNPEEPTSPAAAVPTLEEPTSSAAAVLTPEELSSPAASVPTPEEPASPAAAVSNLEEPASPAAAV +PTPEVAAIPAASVPTPEVPAIPAAAVPPMEEVSPIGVPFLGVSAHTDSVPISEEGTPVLEEASSTGMWIKEDLDSLVFGIKEVTSTVLHGKVPLAATAGL +NSDEVIVHFDSGKGLKSKVRFAGLTWW* +>line961 NM_021080 WILDTYPE +MSTETELQVAVKTSAKKDSRKKGQDRSEATLIKRFKGEGVRYKAKLIGIDEVSAARGDKLCQDSMMKLKGVVAGARSKGEHKQKIFLTISFGGIKIFDEK +TGALQHHHAVHEISYIAKDITDHRAFGYVCGKEGNHRFVAIKTAQAAEPVILDLRDLFQLIYELKQREELEKKAQKDKQCEQAVYQTILEEDVEDPVYQY +IVFEAGHEPIRDPETEENIYQVPTSQKKEGVYDVPKSQPVSAVTQLELFGDMSTPPDITSPPTPATPGDAFIPSSSQTLPASADVFSSVPFGTAAVPSGY +VAMGAVLPSFWGQQPLVQQQMVMGAQPPVAQVMPGAQPIAWGQPGLFPATQQPWPTVAGQFPPAAFMPTQTVMPLPAAMFQGPLTPLATVPGTSDSTRSS +PQTDKPRQKMGKETFKDFQMAQPPPVPSRKPDQPSLTCTSEAFSSYFNKVGVAQDTDDCDDFDISQLNLTPVTSTTPSTNSPPTPAPRQSSPSKSSASHA +SDPTTDDIFEEGFESPSKSEEQEAPDGSQASSNSDPFGEPSGEPSGDNISPQAGS* +>line961 NM_021080 c.1351_1352AA p.G451K protein-altering (position 451 changed from G to K) +MSTETELQVAVKTSAKKDSRKKGQDRSEATLIKRFKGEGVRYKAKLIGIDEVSAARGDKLCQDSMMKLKGVVAGARSKGEHKQKIFLTISFGGIKIFDEK +TGALQHHHAVHEISYIAKDITDHRAFGYVCGKEGNHRFVAIKTAQAAEPVILDLRDLFQLIYELKQREELEKKAQKDKQCEQAVYQTILEEDVEDPVYQY +IVFEAGHEPIRDPETEENIYQVPTSQKKEGVYDVPKSQPVSAVTQLELFGDMSTPPDITSPPTPATPGDAFIPSSSQTLPASADVFSSVPFGTAAVPSGY +VAMGAVLPSFWGQQPLVQQQMVMGAQPPVAQVMPGAQPIAWGQPGLFPATQQPWPTVAGQFPPAAFMPTQTVMPLPAAMFQGPLTPLATVPGTSDSTRSS +PQTDKPRQKMGKETFKDFQMAQPPPVPSRKPDQPSLTCTSEAFSSYFNKVKVAQDTDDCDDFDISQLNLTPVTSTTPSTNSPPTPAPRQSSPSKSSASHA +SDPTTDDIFEEGFESPSKSEEQEAPDGSQASSNSDPFGEPSGEPSGDNISPQAGS* +>line1231 NM_004388 WILDTYPE +MSRPQLRRWRLVSSPPSGVPGLALLALLALLALRLAAGTDCPCPEPELCRPIRHHPDFEVFVFDVGQKTWKSYDWSQITTVATFGKYDSELMCYAHSKGA +RVVLKGDVSLKDIIDPAFRASWIAQKLNLAKTQYMDGINIDIEQEVNCLSPEYDALTALVKETTDSFHREIEGSQVTFDVAWSPKNIDRRCYNYTGIADA +CDFLFVMSYDEQSQIWSECIAAANAPYNQTLTGYNDYIKMSINPKKLVMGVPWYGYDYTCLNLSEDHVCTIAKVPFRGAPCSDAAGRQVPYKTIMKQINS +SISGNLWDKDQRAPYYNYKDPAGHFHQVWYDNPQSISLKATYIQNYRLRGIGMWNANCLDYSGDAVAKQQTEEMWEVLKPKLLQR* +>line1231 NM_004388 c.92_100del p.L31_L33del protein-altering (position 31-33 changed from LAL to ) +MSRPQLRRWRLVSSPPSGVPGLALLALLALRLAAGTDCPCPEPELCRPIRHHPDFEVFVFDVGQKTWKSYDWSQITTVATFGKYDSELMCYAHSKGARVV +LKGDVSLKDIIDPAFRASWIAQKLNLAKTQYMDGINIDIEQEVNCLSPEYDALTALVKETTDSFHREIEGSQVTFDVAWSPKNIDRRCYNYTGIADACDF +LFVMSYDEQSQIWSECIAAANAPYNQTLTGYNDYIKMSINPKKLVMGVPWYGYDYTCLNLSEDHVCTIAKVPFRGAPCSDAAGRQVPYKTIMKQINSSIS +GNLWDKDQRAPYYNYKDPAGHFHQVWYDNPQSISLKATYIQNYRLRGIGMWNANCLDYSGDAVAKQQTEEMWEVLKPKLLQR* +>line1269 NM_012128 WILDTYPE +MGLFRGFVFLLVLCLLHQSNTSFIKLNNNGFEDIVIVIDPSVPEDEKIIEQIEDMVTTASTYLFEATEKRFFFKNVSILIPENWKENPQYKRPKHENHKH +ADVIVAPPTLPGRDEPYTKQFTECGEKGEYIHFTPDLLLGKKQNEYGPPGKLFVHEWAHLRWGVFDEYNEDQPFYRAKSKKIEATRCSAGISGRNRVYKC +QGGSCLSRACRIDSTTKLYGKDCQFFPDKVQTEKASIMFMQSIDSVVEFCNEKTHNQEAPSLQNIKCNFRSTWEVISNSEDFKNTIPMVTPPPPPVFSLL +KISQRIVCLVLDKSGSMGGKDRLNRMNQAAKHFLLQTVENGSWVGMVHFDSTATIVNKLIQIKSSDERNTLMAGLPTYPLGGTSICSGIKYAFQVIGELH +SQLDGSEVLLLTDGEDNTASSCIDEVKQSGAIVHFIALGRAADEAVIEMSKITGGSHFYVSDEAQNNGLIDAFGALTSGNTDLSQKSLQLESKGLTLNSN +AWMNDTVIIDSTVGKDTFFLITWNSLPPSISLWDPSGTIMENFTVDATSKMAYLSIPGTAKVGTWAYNLQAKANPETLTITVTSRAANSSVPPITVNAKM +NKDVNSFPSPMIVYAEILQGYVPVLGANVTAFIESQNGHTEVLELLDNGAGADSFKNDGVYSRYFTAYTENGRYSLKVRAHGGANTARLKLRPPLNRAAY +IPGWVVNGEIEANPPRPEIDEDTQTTLEDFSRTASGGAFVVSQVPSLPLPDQYPPSQITDLDATVHEDKIILTWTAPGDNFDVGKVQRYIIRISASILDL +RDSFDDALQVNTTDLSPKEANSKESFAFKPENISEENATHIFIAIKSIDKSNLTSKVSNIAQVTLFIPQANPDDIDPTPTPTPTPTPDKSHNSGVNISTL +VLSVIGSVVIVNFILSTTI* +>line1269 NM_012128 c.2629_2634del p.T886_P887del protein-altering (position 886-887 changed from TP to ) +MGLFRGFVFLLVLCLLHQSNTSFIKLNNNGFEDIVIVIDPSVPEDEKIIEQIEDMVTTASTYLFEATEKRFFFKNVSILIPENWKENPQYKRPKHENHKH +ADVIVAPPTLPGRDEPYTKQFTECGEKGEYIHFTPDLLLGKKQNEYGPPGKLFVHEWAHLRWGVFDEYNEDQPFYRAKSKKIEATRCSAGISGRNRVYKC +QGGSCLSRACRIDSTTKLYGKDCQFFPDKVQTEKASIMFMQSIDSVVEFCNEKTHNQEAPSLQNIKCNFRSTWEVISNSEDFKNTIPMVTPPPPPVFSLL +KISQRIVCLVLDKSGSMGGKDRLNRMNQAAKHFLLQTVENGSWVGMVHFDSTATIVNKLIQIKSSDERNTLMAGLPTYPLGGTSICSGIKYAFQVIGELH +SQLDGSEVLLLTDGEDNTASSCIDEVKQSGAIVHFIALGRAADEAVIEMSKITGGSHFYVSDEAQNNGLIDAFGALTSGNTDLSQKSLQLESKGLTLNSN +AWMNDTVIIDSTVGKDTFFLITWNSLPPSISLWDPSGTIMENFTVDATSKMAYLSIPGTAKVGTWAYNLQAKANPETLTITVTSRAANSSVPPITVNAKM +NKDVNSFPSPMIVYAEILQGYVPVLGANVTAFIESQNGHTEVLELLDNGAGADSFKNDGVYSRYFTAYTENGRYSLKVRAHGGANTARLKLRPPLNRAAY +IPGWVVNGEIEANPPRPEIDEDTQTTLEDFSRTASGGAFVVSQVPSLPLPDQYPPSQITDLDATVHEDKIILTWTAPGDNFDVGKVQRYIIRISASILDL +RDSFDDALQVNTTDLSPKEANSKESFAFKPENISEENATHIFIAIKSIDKSNLTSKVSNIAQVTLFIPQANPDDIDPTPTPTPTPDKSHNSGVNISTLVL +SVIGSVVIVNFILSTTI* +>line1299 NM_052941 WILDTYPE +MGERTLHAAVPTPGYPESESIMMAPICLVENQEEQLTVNSKALEILDKISQPVVVVAIVGLYRTGKSYLMNRLAGKRNGFPLGSTVQSETKGIWMWCVPH +LSKPNHTLVLLDTEGLGDVEKSNPKNDSWIFALAVLLSSSFVYNSVSTINHQALEQLHYVTELAELIRAKSCPRPDEAEDSSEFASFFPDFIWTVRDFTL +ELKLDGNPITEDEYLENALKLIPGKNPKIQNSNMPRECIRHFFRKRKCFVFDRPTNDKQYLNHMDEVPEENLERHFLMQSDNFCSYIFTHAKTKTLREGI +IVTGKRLGTLVVTYVDAINSGAVPCLENAVTALAQLENPAAVQRAADHYSQQMAQQLRLPTDTLQELLDVHAACEREAIAVFMEHSFKDENHEFQKKLVD +TIEKKKGDFVLQNEEASAKYCQAELKRLSEHLTESILRGIFSVPGGHNLYLEEKKQVEWDYKLVPRKGVKANEVLQNFLQSQVVVEESILQSDKALTAGE +KAIAAERAMKEAAEKEQELLREKQKEQQQMMEAQERSFQEYMAQMEKKLEEERENLLREHERLLKHKLKVQEEMLKEEFQKKSEQLNKEINQLKEKIEST +KNEQLRLLKILDMASNIMIVTLPGASKLLGVGTKYLGSRI* +>line1299 NM_052941 c.1651_1652AG p.E551R protein-altering (position 551 changed from E to R) +MGERTLHAAVPTPGYPESESIMMAPICLVENQEEQLTVNSKALEILDKISQPVVVVAIVGLYRTGKSYLMNRLAGKRNGFPLGSTVQSETKGIWMWCVPH +LSKPNHTLVLLDTEGLGDVEKSNPKNDSWIFALAVLLSSSFVYNSVSTINHQALEQLHYVTELAELIRAKSCPRPDEAEDSSEFASFFPDFIWTVRDFTL +ELKLDGNPITEDEYLENALKLIPGKNPKIQNSNMPRECIRHFFRKRKCFVFDRPTNDKQYLNHMDEVPEENLERHFLMQSDNFCSYIFTHAKTKTLREGI +IVTGKRLGTLVVTYVDAINSGAVPCLENAVTALAQLENPAAVQRAADHYSQQMAQQLRLPTDTLQELLDVHAACEREAIAVFMEHSFKDENHEFQKKLVD +TIEKKKGDFVLQNEEASAKYCQAELKRLSEHLTESILRGIFSVPGGHNLYLEEKKQVEWDYKLVPRKGVKANEVLQNFLQSQVVVEESILQSDKALTAGE +KAIAAERAMKEAAEKEQELLREKQKEQQQMMEAQERSFQEYMAQMEKKLERERENLLREHERLLKHKLKVQEEMLKEEFQKKSEQLNKEINQLKEKIEST +KNEQLRLLKILDMASNIMIVTLPGASKLLGVGTKYLGSRI* +>line1440 NM_019083 WILDTYPE +MATSATSPHAPGFPAEGRCGYYVEKKKRFCRMVVAAGKRFCGEHAGAAEEEDARKRILCPLDPKHTVYEDQLAKHLKKCNSREKPKPDFYIQDINAGLRD +ETEIPEQLVPISSLSEEQLEKLIKKLRKASEGLNSTLKDHIMSHPALHDALNDPKNGDSATKHLKQQASILGNIENLKLLGPRRCFVEFGAGKGKLSHWV +DIALKDAEKVHFILVEKVTTRFKVDGKHRKKNSVFERLQIDIQHLCLNKIPVLREEKLPVVGIGKHLCGMATDLALRCLVETYAASFEERNEEPLAKRIK +NDKTEKEIYTLAKEGNEKNVPEKWNPVAGIVIALCCHHRCDWRHYVGKEYFRALGLGAVEFHYFQRMSSWATCGMRKTSLETSNSTTKRQDNQNDDSEEH +DDGGYRITDDGADCLPGLLSVEEKKKIGHLCKLLIDQGRIQYLQQKGFSPALQYYTDPLVSLENVLLTALPNHSSSPETTA* +>line1440 NM_019083 c.142_143AT p.A48M protein-altering (position 48 changed from A to M) +MATSATSPHAPGFPAEGRCGYYVEKKKRFCRMVVAAGKRFCGEHAGAMEEEDARKRILCPLDPKHTVYEDQLAKHLKKCNSREKPKPDFYIQDINAGLRD +ETEIPEQLVPISSLSEEQLEKLIKKLRKASEGLNSTLKDHIMSHPALHDALNDPKNGDSATKHLKQQASILGNIENLKLLGPRRCFVEFGAGKGKLSHWV +DIALKDAEKVHFILVEKVTTRFKVDGKHRKKNSVFERLQIDIQHLCLNKIPVLREEKLPVVGIGKHLCGMATDLALRCLVETYAASFEERNEEPLAKRIK +NDKTEKEIYTLAKEGNEKNVPEKWNPVAGIVIALCCHHRCDWRHYVGKEYFRALGLGAVEFHYFQRMSSWATCGMRKTSLETSNSTTKRQDNQNDDSEEH +DDGGYRITDDGADCLPGLLSVEEKKKIGHLCKLLIDQGRIQYLQQKGFSPALQYYTDPLVSLENVLLTALPNHSSSPETTA* +>line1550 NM_001408 WILDTYPE +MRSPATGVPLPTPPPPLLLLLLLLLPPPLLGDQVGPCRSLGSRGRGSSGACAPMGWLCPSSASNLWLYTSRCRDAGTELTGHLVPHHDGLRVWCPESEAH +IPLPPAPEGCPWSCRLLGIGGHLSPQGKLTLPEEHPCLKAPRLRCQSCKLAQAPGLRAGERSPEESLGGRRKRNVNTAPQFQPPSYQATVPENQPAGTPV +ASLRAIDPDEGEAGRLEYTMDALFDSRSNQFFSLDPVTGAVTTAEELDRETKSTHVFRVTAQDHGMPRRSALATLTILVTDTNDHDPVFEQQEYKESLRE +NLEVGYEVLTVRATDGDAPPNANILYRLLEGSGGSPSEVFEIDPRSGVIRTRGPVDREEVESYQLTVEASDQGRDPGPRSTTAAVFLSVEDDNDNAPQFS +EKRYVVQVREDVTPGAPVLRVTASDRDKGSNAVVHYSIMSGNARGQFYLDAQTGALDVVSPLDYETTKEYTLRVRAQDGGRPPLSNVSGLVTVQVLDIND +NAPIFVSTPFQATVLESVPLGYLVLHVQAIDADAGDNARLEYRLAGVGHDFPFTINNGTGWISVAAELDREEVDFYSFGVEARDHGTPALTASASVSVTV +LDVNDNNPTFTQPEYTVRLNEDAAVGTSVVTVSAVDRDAHSVITYQITSGNTRNRFSITSQSGGGLVSLALPLDYKLERQYVLAVTASDGTRQDTAQIVV +NVTDANTHRPVFQSSHYTVNVNEDRPAGTTVVLISATDEDTGENARITYFMEDSIPQFRIDADTGAVTTQAELDYEDQVSYTLAITARDNGIPQKSDTTY +LEILVNDVNDNAPQFLRDSYQGSVYEDVPPFTSVLQISATDRDSGLNGRVFYTFQGGDDGDGDFIVESTSGIVRTLRRLDRENVAQYVLRAYAVDKGMPP +ARTPMEVTVTVLDVNDNPPVFEQDEFDVFVEENSPIGLAVARVTATDPDEGTNAQIMYQIVEGNIPEVFQLDIFSGELTALVDLDYEDRPEYVLVIQATS +APLVSRATVHVRLLDRNDNPPVLGNFEILFNNYVTNRSSSFPGGAIGRVPAHDPDISDSLTYSFERGNELSLVLLNASTGELKLSRALDNNRPLEAIMSV +LVSDGVHSVTAQCALRVTIITDEMLTHSITLRLEDMSPERFLSPLLGLFIQAVAATLATPPDHVVVFNVQRDTDAPGGHILNVSLSVGQPPGPGGGPPFL +PSEDLQERLYLNRSLLTAISAQRVLPFDDNICLREPCENYMRCVSVLRFDSSAPFIASSSVLFRPIHPVGGLRCRCPPGFTGDYCETEVDLCYSRPCGPH +GRCRSREGGYTCLCRDGYTGEHCEVSARSGRCTPGVCKNGGTCVNLLVGGFKCDCPSGDFEKPYCQVTTRSFPAHSFITFRGLRQRFHFTLALSFATKER +DGLLLYNGRFNEKHDFVALEVIQEQVQLTFSAGESTTTVSPFVPGGVSDGQWHTVQLKYYNKPLLGQTGLPQGPSEQKVAVVTVDGCDTGVALRFGSVLG +NYSCAAQGTQGGSKKSLDLTGPLLLGGVPDLPESFPVRMRQFVGCMRNLQVDSRHIDMADFIANNGTVPGCPAKKNVCDSNTCHNGGTCVNQWDAFSCEC +PLGFGGKSCAQEMANPQHFLGSSLVAWHGLSLPISQPWYLSLMFRTRQADGVLLQAITRGRSTITLQLREGHVMLSVEGTGLQASSLRLEPGRANDGDWH +HAQLALGASGGPGHAILSFDYGQQRAEGNLGPRLHGLHLSNITVGGIPGPAGGVARGFRGCLQGVRVSDTPEGVNSLDPSHGESINVEQGCSLPDPCDSN +PCPANSYCSNDWDSYSCSCDPGYYGDNCTNVCDLNPCEHQSVCTRKPSAPHGYTCECPPNYLGPYCETRIDQPCPRGWWGHPTCGPCNCDVSKGFDPDCN +KTSGECHCKENHYRPPGSPTCLLCDCYPTGSLSRVCDPEDGQCPCKPGVIGRQCDRCDNPFAEVTTNGCEVNYDSCPRAIEAGIWWPRTRFGLPAAAPCP +KGSFGTAVRHCDEHRGWLPPNLFNCTSITFSELKGFAERLQRNESGLDSGRSQQLALLLRNATQHTAGYFGSDVKVAYQLATRLLAHESTQRGFGLSATQ +DVHFTENLLRVGSALLDTANKRHWELIQQTEGGTAWLLQHYEAYASALAQNMRHTYLSPFTIVTPNIVISVVRLDKGNFAGAKLPRYEALRGEQPPDLET +TVILPESVFRETPPVVRPAGPGEAQEPEELARRQRRHPELSQGEAVASVIIYRTLAGLLPHNYDPDKRSLRVPKRPIINTPVVSISVHDDEELLPRALDK +PVTVQFRLLETEERTKPICVFWNHSILVSGTGGWSARGCEVVFRNESHVSCQCNHMTSFAVLMDVSRRENGEILPLKTLTYVALGVTLAALLLTFFFLTL +LRILRSNQHGIRRNLTAALGLAQLVFLLGINQADLPFACTVIAILLHFLYLCTFSWALLEALHLYRALTEVRDVNTGPMRFYYMLGWGVPAFITGLAVGL +DPEGYGNPDFCWLSIYDTLIWSFAGPVAFAVSMSVFLYILAARASCAAQRQGFEKKGPVSGLQPSFAVLLLLSATWLLALLSVNSDTLLFHYLFATCNCI +QGPFIFLSYVVLSKEVRKALKLACSRKPSPDPALTTKSTLTSSYNCPSPYADGRLYQPYGDSAGSLHSTSRSGKSQPSYIPFLLREESALNPGQGPPGLG +DPGSLFLEGQDQQHDPDTDSDSDLSLEDDQSGSYASTHSSDSEEEEEEEEEEAAFPGEQGWDSLLGPGAERLPLHSTPKDGGPGPGKAPWPGDFGTTAKE +SSGNGAPEERLRENGDALSREGSLGPLPGSSAQPHKGILKKKCLPTISEKSSLLRLPLEQCTGSSRGSSASEGSRGGPPPRPPPRQSLQEQLNGVMPIAM +SIKAGTVDEDSSGSEFLFFNFLH* +>line1550 NM_001408 c.34_35insCGC p.P16_L17insP protein-altering (position 16-17 has insertion P) +MRSPATGVPLPTPPPPPLLLLLLLLLPPPLLGDQVGPCRSLGSRGRGSSGACAPMGWLCPSSASNLWLYTSRCRDAGTELTGHLVPHHDGLRVWCPESEA +HIPLPPAPEGCPWSCRLLGIGGHLSPQGKLTLPEEHPCLKAPRLRCQSCKLAQAPGLRAGERSPEESLGGRRKRNVNTAPQFQPPSYQATVPENQPAGTP +VASLRAIDPDEGEAGRLEYTMDALFDSRSNQFFSLDPVTGAVTTAEELDRETKSTHVFRVTAQDHGMPRRSALATLTILVTDTNDHDPVFEQQEYKESLR +ENLEVGYEVLTVRATDGDAPPNANILYRLLEGSGGSPSEVFEIDPRSGVIRTRGPVDREEVESYQLTVEASDQGRDPGPRSTTAAVFLSVEDDNDNAPQF +SEKRYVVQVREDVTPGAPVLRVTASDRDKGSNAVVHYSIMSGNARGQFYLDAQTGALDVVSPLDYETTKEYTLRVRAQDGGRPPLSNVSGLVTVQVLDIN +DNAPIFVSTPFQATVLESVPLGYLVLHVQAIDADAGDNARLEYRLAGVGHDFPFTINNGTGWISVAAELDREEVDFYSFGVEARDHGTPALTASASVSVT +VLDVNDNNPTFTQPEYTVRLNEDAAVGTSVVTVSAVDRDAHSVITYQITSGNTRNRFSITSQSGGGLVSLALPLDYKLERQYVLAVTASDGTRQDTAQIV +VNVTDANTHRPVFQSSHYTVNVNEDRPAGTTVVLISATDEDTGENARITYFMEDSIPQFRIDADTGAVTTQAELDYEDQVSYTLAITARDNGIPQKSDTT +YLEILVNDVNDNAPQFLRDSYQGSVYEDVPPFTSVLQISATDRDSGLNGRVFYTFQGGDDGDGDFIVESTSGIVRTLRRLDRENVAQYVLRAYAVDKGMP +PARTPMEVTVTVLDVNDNPPVFEQDEFDVFVEENSPIGLAVARVTATDPDEGTNAQIMYQIVEGNIPEVFQLDIFSGELTALVDLDYEDRPEYVLVIQAT +SAPLVSRATVHVRLLDRNDNPPVLGNFEILFNNYVTNRSSSFPGGAIGRVPAHDPDISDSLTYSFERGNELSLVLLNASTGELKLSRALDNNRPLEAIMS +VLVSDGVHSVTAQCALRVTIITDEMLTHSITLRLEDMSPERFLSPLLGLFIQAVAATLATPPDHVVVFNVQRDTDAPGGHILNVSLSVGQPPGPGGGPPF +LPSEDLQERLYLNRSLLTAISAQRVLPFDDNICLREPCENYMRCVSVLRFDSSAPFIASSSVLFRPIHPVGGLRCRCPPGFTGDYCETEVDLCYSRPCGP +HGRCRSREGGYTCLCRDGYTGEHCEVSARSGRCTPGVCKNGGTCVNLLVGGFKCDCPSGDFEKPYCQVTTRSFPAHSFITFRGLRQRFHFTLALSFATKE +RDGLLLYNGRFNEKHDFVALEVIQEQVQLTFSAGESTTTVSPFVPGGVSDGQWHTVQLKYYNKPLLGQTGLPQGPSEQKVAVVTVDGCDTGVALRFGSVL +GNYSCAAQGTQGGSKKSLDLTGPLLLGGVPDLPESFPVRMRQFVGCMRNLQVDSRHIDMADFIANNGTVPGCPAKKNVCDSNTCHNGGTCVNQWDAFSCE +CPLGFGGKSCAQEMANPQHFLGSSLVAWHGLSLPISQPWYLSLMFRTRQADGVLLQAITRGRSTITLQLREGHVMLSVEGTGLQASSLRLEPGRANDGDW +HHAQLALGASGGPGHAILSFDYGQQRAEGNLGPRLHGLHLSNITVGGIPGPAGGVARGFRGCLQGVRVSDTPEGVNSLDPSHGESINVEQGCSLPDPCDS +NPCPANSYCSNDWDSYSCSCDPGYYGDNCTNVCDLNPCEHQSVCTRKPSAPHGYTCECPPNYLGPYCETRIDQPCPRGWWGHPTCGPCNCDVSKGFDPDC +NKTSGECHCKENHYRPPGSPTCLLCDCYPTGSLSRVCDPEDGQCPCKPGVIGRQCDRCDNPFAEVTTNGCEVNYDSCPRAIEAGIWWPRTRFGLPAAAPC +PKGSFGTAVRHCDEHRGWLPPNLFNCTSITFSELKGFAERLQRNESGLDSGRSQQLALLLRNATQHTAGYFGSDVKVAYQLATRLLAHESTQRGFGLSAT +QDVHFTENLLRVGSALLDTANKRHWELIQQTEGGTAWLLQHYEAYASALAQNMRHTYLSPFTIVTPNIVISVVRLDKGNFAGAKLPRYEALRGEQPPDLE +TTVILPESVFRETPPVVRPAGPGEAQEPEELARRQRRHPELSQGEAVASVIIYRTLAGLLPHNYDPDKRSLRVPKRPIINTPVVSISVHDDEELLPRALD +KPVTVQFRLLETEERTKPICVFWNHSILVSGTGGWSARGCEVVFRNESHVSCQCNHMTSFAVLMDVSRRENGEILPLKTLTYVALGVTLAALLLTFFFLT +LLRILRSNQHGIRRNLTAALGLAQLVFLLGINQADLPFACTVIAILLHFLYLCTFSWALLEALHLYRALTEVRDVNTGPMRFYYMLGWGVPAFITGLAVG +LDPEGYGNPDFCWLSIYDTLIWSFAGPVAFAVSMSVFLYILAARASCAAQRQGFEKKGPVSGLQPSFAVLLLLSATWLLALLSVNSDTLLFHYLFATCNC +IQGPFIFLSYVVLSKEVRKALKLACSRKPSPDPALTTKSTLTSSYNCPSPYADGRLYQPYGDSAGSLHSTSRSGKSQPSYIPFLLREESALNPGQGPPGL +GDPGSLFLEGQDQQHDPDTDSDSDLSLEDDQSGSYASTHSSDSEEEEEEEEEEAAFPGEQGWDSLLGPGAERLPLHSTPKDGGPGPGKAPWPGDFGTTAK +ESSGNGAPEERLRENGDALSREGSLGPLPGSSAQPHKGILKKKCLPTISEKSSLLRLPLEQCTGSSRGSSASEGSRGGPPPRPPPRQSLQEQLNGVMPIA +MSIKAGTVDEDSSGSEFLFFNFLH* +>line1665 NM_001007237 WILDTYPE +MKCFFPVLSCLAVLGVVSAQRQVTVQEGPLYRTEGSHITIWCNVSGYQGPSEQNFQWSIYLPSSPEREVQIVSTMDSSFPYAIYTQRVRGGKIFIERVQG +NSTLLHITDLQARDAGEYECHTPSTDKQYFGSYSAKMNLVVIPDSLQTTAMPQTLHRVEQDPLELTCEVASETIQHSHLSVAWLRQKVGEKPVEVISLSR +DFMLHSSSEYAQRQSLGEVRLDKLGRTTFRLTIFHLQPSDQGEFYCEAAEWIQDPDGSWYAMTRKRSEGAVVNVQPTDKEFTVRLETEKRLHTVGEPVEF +RCILEAQNVPDRYFAVSWAFNSSLIATMGPNAVPVLNSEFAHREARGQLKVAKESDSVFVLKIYHLRQEDSGKYNCRVTEREKTVTGEFIDKESKRPKNI +PIIVLPLKSSISVEVASNASVILEGEDLRFSCSVRTAGRPQGRFSVIWQLVDRQNRRSNIMWLDRDGTVQPGSSYWERSSFGGVQMEQVQPNSFSLGIFN +SRKEDEGQYECHVTEWVRAVDGEWQIVGERRASTPISITALEMGFAVTAISRTPGVTYSDSFDLQCIIKPHYPAWVPVSVTWRFQPVGTVEFHDLVTFTR +DGGVQWGDRSSSFRTRTAIEKAESSNNVRLSISRASDTEAGKYQCVAELWRKNYNNTWTRLAERTSNLLEIRVLQPVTKLQVSKSKRTLTLVENKPIQLN +CSVKSQTSQNSHFAVLWYVHKPSDADGKLILKTTHNSAFEYGTYAEEEGLRARLQFERHVSGGLFSLTVQRAEVSDSGSYYCHVEEWLLSPNYAWYKLAE +EVSGRTEVTVKQPDSRLRLSQAQGNLSVLETRQVQLECVVLNRTSITSQLMVEWFVWKPNHPERETVARLSRDATFHYGEQAAKNNLKGRLHLESPSPGV +YRLFIQNVAVQDSGTYSCHVEEWLPSPSGMWYKRAEDTAGQTALTVMRPDASLQVDTVVPNATVSEKAAFQLDCSIVSRSSQDSRFAVAWYSLRTKAGGK +RSSPGLEEQEEEREEEEEEDDDDDDDPTERTALLSVGPDAVFGPEGSPWEGRLRFQRLSPVLYRLTVLQASPQDTGNYSCHVEEWLPSPQKEWYRLTEEE +SAPIGIRVLDTSPTLQSIICSNDALFYFVFFYPFPIFGILIITILLVRFKSRNSSKNSDGKNGVPLLWIKEPHLNYSPTCLEPPVLSIHPGAID* +>line1665 NM_001007237 c.3062_3063insGGA p.D1020_D1021insE protein-altering (position 1020-1021 has insertion E) +MKCFFPVLSCLAVLGVVSAQRQVTVQEGPLYRTEGSHITIWCNVSGYQGPSEQNFQWSIYLPSSPEREVQIVSTMDSSFPYAIYTQRVRGGKIFIERVQG +NSTLLHITDLQARDAGEYECHTPSTDKQYFGSYSAKMNLVVIPDSLQTTAMPQTLHRVEQDPLELTCEVASETIQHSHLSVAWLRQKVGEKPVEVISLSR +DFMLHSSSEYAQRQSLGEVRLDKLGRTTFRLTIFHLQPSDQGEFYCEAAEWIQDPDGSWYAMTRKRSEGAVVNVQPTDKEFTVRLETEKRLHTVGEPVEF +RCILEAQNVPDRYFAVSWAFNSSLIATMGPNAVPVLNSEFAHREARGQLKVAKESDSVFVLKIYHLRQEDSGKYNCRVTEREKTVTGEFIDKESKRPKNI +PIIVLPLKSSISVEVASNASVILEGEDLRFSCSVRTAGRPQGRFSVIWQLVDRQNRRSNIMWLDRDGTVQPGSSYWERSSFGGVQMEQVQPNSFSLGIFN +SRKEDEGQYECHVTEWVRAVDGEWQIVGERRASTPISITALEMGFAVTAISRTPGVTYSDSFDLQCIIKPHYPAWVPVSVTWRFQPVGTVEFHDLVTFTR +DGGVQWGDRSSSFRTRTAIEKAESSNNVRLSISRASDTEAGKYQCVAELWRKNYNNTWTRLAERTSNLLEIRVLQPVTKLQVSKSKRTLTLVENKPIQLN +CSVKSQTSQNSHFAVLWYVHKPSDADGKLILKTTHNSAFEYGTYAEEEGLRARLQFERHVSGGLFSLTVQRAEVSDSGSYYCHVEEWLLSPNYAWYKLAE +EVSGRTEVTVKQPDSRLRLSQAQGNLSVLETRQVQLECVVLNRTSITSQLMVEWFVWKPNHPERETVARLSRDATFHYGEQAAKNNLKGRLHLESPSPGV +YRLFIQNVAVQDSGTYSCHVEEWLPSPSGMWYKRAEDTAGQTALTVMRPDASLQVDTVVPNATVSEKAAFQLDCSIVSRSSQDSRFAVAWYSLRTKAGGK +RSSPGLEEQEEEREEEEEEDEDDDDDDPTERTALLSVGPDAVFGPEGSPWEGRLRFQRLSPVLYRLTVLQASPQDTGNYSCHVEEWLPSPQKEWYRLTEE +ESAPIGIRVLDTSPTLQSIICSNDALFYFVFFYPFPIFGILIITILLVRFKSRNSSKNSDGKNGVPLLWIKEPHLNYSPTCLEPPVLSIHPGAID* +>line1876 NM_001330685 WILDTYPE +MASRGGGRGRGRGQLTFNVEAVGIGKGDALPPPTLQPSPLFPPLEFRPVPLPSGEEGEYVLALKQELRGAMRQLPYFIRPAVPKRDWRRLPRELKIRVRK +LQKERITILLPKRPPKTTEDKEETIQKLETLEKKEEEVTSEEDEEKEEEEEKEEEEEEEYDEEEHEEETDYIMSYFDNGEDFGGDSDDNMDEAIY* +>line1876 NM_001330685 c.450_452del p.E151del protein-altering (position 151 changed from E to ) +MASRGGGRGRGRGQLTFNVEAVGIGKGDALPPPTLQPSPLFPPLEFRPVPLPSGEEGEYVLALKQELRGAMRQLPYFIRPAVPKRDWRRLPRELKIRVRK +LQKERITILLPKRPPKTTEDKEETIQKLETLEKKEEEVTSEEDEEKEEEEKEEEEEEEYDEEEHEEETDYIMSYFDNGEDFGGDSDDNMDEAIY* +>line1895 NM_004326 WILDTYPE +MHSSNPKVRSSPSGNTQSSPKSKQEVMVRPPTVMSPSGNPQLDSKFSNQGKQGGSASQSQPSPCDSKSGGHTPKALPGPGGSMGLKNGAGNGAKGKGKRE +RSISADSFDQRDPGTPNDDSDIKECNSADHIKSQDSQHTPHSMTPSNATAPRSSTPSHGQTTATEPTPAQKTPAKVVYVFSTEMANKAAEAVLKGQVETI +VSFHIQNISNNKTERSTAPLNTQISALRNDPKPLPQQPPAPANQDQNSSQNTRLQPTPPIPAPAPKPAAPPRPLDRESPGVENKLIPSVGSPASSTPLPP +DGTGPNSTPNNRAVTPVSQGSNSSSADPKAPPPPPVSSGEPPTLGENPDGLSQEQLEHRERSLQTLRDIQRMLFPDEKEFTGAQSGGPQQNPGVLDGPQK +KPEGPIQAMMAQSQSLGKGPGPRTDVGAPFGPQGHRDVPFSPDEMVPPSMNSQSGTIGPDHLDHMTPEQIAWLKLQQEFYEEKRRKQEQVVVQQCSLQDM +MVHQHGPRGVVRGPPPPYQMTPSEGWAPGGTEPFSDGINMPHSLPPRGMAPHPNMPGSQMRLPGFAGMINSEMEGPNVPNPASRPGLSGVSWPDDVPKIP +DGRNFPPGQGIFSGPGRGERFPNPQGLSEEMFQQQLAEKQLGLPPGMAMEGIRPSMEMNRMIPGSQRHMEPGNNPIFPRIPVEGPLSPSRGDFPKGIPPQ +MGPGRELEFGMVPSGMKGDVNLNVNMGSNSQMIPQKMREAGAGPEEMLKLRPGGSDMLPAQQKMVPLPFGEHPQQEYGMGPRPFLPMSQGPGSNSGLRNL +REPIGPDQRTNSRLSHMPPLPLNPSSNPTSLNTAPPVQRGLGRKPLDISVAGSQVHSPGINPLKSPTMHQVQSPMLGSPSGNLKSPQTPSQLAGMLAGPA +AAASIKSPPVLGSAAASPVHLKSPSLPAPSPGWTSSPKPPLQSPGIPPNHKAPLTMASPAMLGNVESGGPPPPTASQPASVNIPGSLPSSTPYTMPPEPT +LSQNPLSIMMSRMSKFAMPSSTPLYHDAIKTVASSDDDSPPARSPNLPSMNNMPGMGINTQNPRISGPNPVVPMPTLSPMGMTQPLSHSNQMPSPNAVGP +NIPPHGVPMGPGLMSHNPIMGHGSQEPPMVPQGRMGFPQGFPPVQSPPQQVPFPHNGPSGGQGSFPGGMGFPGEGPLGRPSNLPQSSADAALCKPGGPGG +PDSFTVLGNSMPSVFTDPDLQEVIRPGATGIPEFDLSRIIPSEKPSQTLQYFPRGEVPGRKQPQGPGPGFSHMQGMMGEQAPRMGLALPGMGGPGPVGTP +DIPLGTAPSMPGHNPMRPPAFLQQGMMGPHHRMMSPAQSTMPGQPTLMSNPAAAVGMIPGKDRGPAGLYTHPGPVGSPGMMMSMQGMMGPQQNIMIPPQM +RPRGMAADVGMGGFSQGPGNPGNMMF* +>line1895 NM_004326 c.292delA p.R99Gfs*32 protein-altering (position 99-1426 changed from RERSISADSFDQRDPGTPNDDSDIKECNSADHIKSQDSQHTPHSMTPSNATAPRSSTPSHGQTTATEPTPAQKTPAKVVYVFSTEMANKAAEAVLKGQVETIVSFHIQNISNNKTERSTAPLNTQISALRNDPKPLPQQPPAPANQDQNSSQNTRLQPTPPIPAPAPKPAAPPRPLDRESPGVENKLIPSVGSPASSTPLPPDGTGPNSTPNNRAVTPVSQGSNSSSADPKAPPPPPVSSGEPPTLGENPDGLSQEQLEHRERSLQTLRDIQRMLFPDEKEFTGAQSGGPQQNPGVLDGPQKKPEGPIQAMMAQSQSLGKGPGPRTDVGAPFGPQGHRDVPFSPDEMVPPSMNSQSGTIGPDHLDHMTPEQIAWLKLQQEFYEEKRRKQEQVVVQQCSLQDMMVHQHGPRGVVRGPPPPYQMTPSEGWAPGGTEPFSDGINMPHSLPPRGMAPHPNMPGSQMRLPGFAGMINSEMEGPNVPNPASRPGLSGVSWPDDVPKIPDGRNFPPGQGIFSGPGRGERFPNPQGLSEEMFQQQLAEKQLGLPPGMAMEGIRPSMEMNRMIPGSQRHMEPGNNPIFPRIPVEGPLSPSRGDFPKGIPPQMGPGRELEFGMVPSGMKGDVNLNVNMGSNSQMIPQKMREAGAGPEEMLKLRPGGSDMLPAQQKMVPLPFGEHPQQEYGMGPRPFLPMSQGPGSNSGLRNLREPIGPDQRTNSRLSHMPPLPLNPSSNPTSLNTAPPVQRGLGRKPLDISVAGSQVHSPGINPLKSPTMHQVQSPMLGSPSGNLKSPQTPSQLAGMLAGPAAAASIKSPPVLGSAAASPVHLKSPSLPAPSPGWTSSPKPPLQSPGIPPNHKAPLTMASPAMLGNVESGGPPPPTASQPASVNIPGSLPSSTPYTMPPEPTLSQNPLSIMMSRMSKFAMPSSTPLYHDAIKTVASSDDDSPPARSPNLPSMNNMPGMGINTQNPRISGPNPVVPMPTLSPMGMTQPLSHSNQMPSPNAVGPNIPPHGVPMGPGLMSHNPIMGHGSQEPPMVPQGRMGFPQGFPPVQSPPQQVPFPHNGPSGGQGSFPGGMGFPGEGPLGRPSNLPQSSADAALCKPGGPGGPDSFTVLGNSMPSVFTDPDLQEVIRPGATGIPEFDLSRIIPSEKPSQTLQYFPRGEVPGRKQPQGPGPGFSHMQGMMGEQAPRMGLALPGMGGPGPVGTPDIPLGTAPSMPGHNPMRPPAFLQQGMMGPHHRMMSPAQSTMPGQPTLMSNPAAAVGMIPGKDRGPAGLYTHPGPVGSPGMMMSMQGMMGPQQNIMIPPQMRPRGMAADVGMGGFSQGPGNPGNMMF to GSEVFPPTPLIREILGLQTMTLTLKNVILLTT) +MHSSNPKVRSSPSGNTQSSPKSKQEVMVRPPTVMSPSGNPQLDSKFSNQGKQGGSASQSQPSPCDSKSGGHTPKALPGPGGSMGLKNGAGNGAKGKGKGS +EVFPPTPLIREILGLQTMTLTLKNVILLTT* +>line1956 NM_001291107 WILDTYPE +MKEPDAIKLFVGQIPRHLEEKDLKPIFEQFGRIFELTVIKDKYTGLHKGCAFLTYCARDSALKAQSALHEQKTLPGMNRPIQVKPADSESRGDRKLFVGM +LGKQQTDEDVRKMFEPFGTIDECTVLRGPDGTSKGCAFVKFQTHAEAQAAINTLHSSRTLPGASSSLVVKFADTEKERGLRRMQQVATQLGMFSPIALQF +GAYSAYTQALMQQQAALVAAHSAYLSPMATMAAVQMQHMAAINANGLIATPITPSSGTSTPPAIAATPVSAIPAALGVNGYSPVPTQPTGQPAPDALYPN +GVHPYPAQSPAAPVDPLQQAYAGMQHYTAAYPAAYSLVAPAFPQPPALVAQQPPPPPQQQQQQQQQQQQQQQREGPDGCNIFIYHLPQEFTDSEILQMFV +PFGHVISAKVFVDRATNQSKCFGFVSFDNPASAQAAIQAMNGFQIGMKRLKVQLKRPKDANRPY* +>line1956 NM_001291107 c.1098_1100del p.Q372del protein-altering (position 372 changed from Q to ) +MKEPDAIKLFVGQIPRHLEEKDLKPIFEQFGRIFELTVIKDKYTGLHKGCAFLTYCARDSALKAQSALHEQKTLPGMNRPIQVKPADSESRGDRKLFVGM +LGKQQTDEDVRKMFEPFGTIDECTVLRGPDGTSKGCAFVKFQTHAEAQAAINTLHSSRTLPGASSSLVVKFADTEKERGLRRMQQVATQLGMFSPIALQF +GAYSAYTQALMQQQAALVAAHSAYLSPMATMAAVQMQHMAAINANGLIATPITPSSGTSTPPAIAATPVSAIPAALGVNGYSPVPTQPTGQPAPDALYPN +GVHPYPAQSPAAPVDPLQQAYAGMQHYTAAYPAAYSLVAPAFPQPPALVAQQPPPPPQQQQQQQQQQQQQQREGPDGCNIFIYHLPQEFTDSEILQMFVP +FGHVISAKVFVDRATNQSKCFGFVSFDNPASAQAAIQAMNGFQIGMKRLKVQLKRPKDANRPY* +>line2022 NM_001204087 WILDTYPE +MDTSGHFHDSGVGDLDEDPKCPCPSSGDEQQQQQQQQQQQQPPPPAPPAAPQQPLGPSLQPQPPQLQQQQQQQQQQQQQQPPHPLSQLAQLQSQPVHPGL +LHSSPTAFRAPPSSNSTAILHPSSRQGSQLNLNDHLLGHSPSSTATSGPGGGSRHRQASPLVHRRDSNPFTEIAMSSCKYSGGVMKPLSRLSASRRNLIE +AETEGQPLQLFSPSNPPEIVISSREDNHAHQTLLHHPNATHNHQHAGTTASSTTFPKANKRKNQNIGYKLGHRRALFEKRKRLSDYALIFGMFGIVVMVI +ETELSWGLYSKDSMFSLALKCLISLSTIILLGLIIAYHTREVQLFVIDNGADDWRIAMTYERILYISLEMLVCAIHPIPGEYKFFWTARLAFSYTPSRAE +ADVDIILSIPMFLRLYLIARVMLLHSKLFTDASSRSIGALNKINFNTRFVMKTLMTICPGTVLLVFSISLWIIAAWTVRVCESPESPAQPSGSSLPAWYH +DQQDVTSNFLGAMWLISITFLSIGYGDMVPHTYCGKGVCLLTGIMGAGCTALVVAVVARKLELTKAEKHVHNFMMDTQLTKRIKNAAANVLRETWLIYKH +TKLLKKIDHAKVRKHQRKFLQAIHQLRSVKMEQRKLSDQANTLVDLSKMQNVMYDLITELNDRSEDLEKQIGSLESKLEHLTASFNSLPLLIADTLRQQQ +QQLLSAIIEARGVSVAVGTTHTPISDSPIGVSSTSFPTPYTSSSSC* +>line2022 NM_001204087 c.2105_2107del p.Q702del protein-altering (position 702 changed from Q to ) +MDTSGHFHDSGVGDLDEDPKCPCPSSGDEQQQQQQQQQQQQPPPPAPPAAPQQPLGPSLQPQPPQLQQQQQQQQQQQQQQPPHPLSQLAQLQSQPVHPGL +LHSSPTAFRAPPSSNSTAILHPSSRQGSQLNLNDHLLGHSPSSTATSGPGGGSRHRQASPLVHRRDSNPFTEIAMSSCKYSGGVMKPLSRLSASRRNLIE +AETEGQPLQLFSPSNPPEIVISSREDNHAHQTLLHHPNATHNHQHAGTTASSTTFPKANKRKNQNIGYKLGHRRALFEKRKRLSDYALIFGMFGIVVMVI +ETELSWGLYSKDSMFSLALKCLISLSTIILLGLIIAYHTREVQLFVIDNGADDWRIAMTYERILYISLEMLVCAIHPIPGEYKFFWTARLAFSYTPSRAE +ADVDIILSIPMFLRLYLIARVMLLHSKLFTDASSRSIGALNKINFNTRFVMKTLMTICPGTVLLVFSISLWIIAAWTVRVCESPESPAQPSGSSLPAWYH +DQQDVTSNFLGAMWLISITFLSIGYGDMVPHTYCGKGVCLLTGIMGAGCTALVVAVVARKLELTKAEKHVHNFMMDTQLTKRIKNAAANVLRETWLIYKH +TKLLKKIDHAKVRKHQRKFLQAIHQLRSVKMEQRKLSDQANTLVDLSKMQNVMYDLITELNDRSEDLEKQIGSLESKLEHLTASFNSLPLLIADTLRQQQ +QLLSAIIEARGVSVAVGTTHTPISDSPIGVSSTSFPTPYTSSSSC* +>line2302 NM_001319231 WILDTYPE +MERISAFFSSIWDTILTKHQEGIYNTICLGVLLGLPLLVIITLLFICCHCCWSPPGKRGQQPEKNKKKKKKKKKKDEEDLWISAQPKLLQMEKRPSLPV* + +>line2302 NM_001319231 c.225_226insAAG p.K75_D76insK protein-altering (position 75-76 has insertion K) +MERISAFFSSIWDTILTKHQEGIYNTICLGVLLGLPLLVIITLLFICCHCCWSPPGKRGQQPEKNKKKKKKKKKKKDEEDLWISAQPKLLQMEKRPSLPV +* +>line2303 NM_001319231 WILDTYPE +MERISAFFSSIWDTILTKHQEGIYNTICLGVLLGLPLLVIITLLFICCHCCWSPPGKRGQQPEKNKKKKKKKKKKDEEDLWISAQPKLLQMEKRPSLPV* + +>line2303 NM_001319231 c.204delG p.K69Rfs*32 protein-altering (position 69-99 changed from KKKKKKKDEEDLWISAQPKLLQMEKRPSLPV to RRRRRRRMKKTSGSLLNPSFSRWRRDHHCLFS) +MERISAFFSSIWDTILTKHQEGIYNTICLGVLLGLPLLVIITLLFICCHCCWSPPGKRGQQPEKNKKKRRRRRRRMKKTSGSLLNPSFSRWRRDHHCLFS +* +>line2304 NM_001319231 WILDTYPE +MERISAFFSSIWDTILTKHQEGIYNTICLGVLLGLPLLVIITLLFICCHCCWSPPGKRGQQPEKNKKKKKKKKKKDEEDLWISAQPKLLQMEKRPSLPV* + +>line2304 NM_001319231 c.195_202del p.N65Kfs*9 protein-altering (position 65-99 changed from NKKKKKKKKKKDEEDLWISAQPKLLQMEKRPSLPV to KEEEEEEEG) +MERISAFFSSIWDTILTKHQEGIYNTICLGVLLGLPLLVIITLLFICCHCCWSPPGKRGQQPEKKEEEEEEEG* +>line2352 NM_144696 WILDTYPE +MSLPKTPSTPLNSTSTSESKKLKVSVAKEGTRGLPELKEKKNMVDRSKLLPTSLQNEFIPKEVLLSLTYAANAGPCPENLLPPKKIKTPKGTLPRLVDHV +WHHPVRRNKFKYLIDHPVSLTGAGRDISFLYDVTYAKGQTREKAVCPPHLARSLQSHDGVIVPHKPKTLTDTLIPEEFHIVSSTGVSGLECYDDKYTTLL +TDSENRLLLFPSMKPNKRVEVAQLNDVMDTMLERAGVENQEYTGPTKMHKLLHILKKEQTIYNMIFHELIRQVSVDCADRGELLSKVRERYVQMLDQIAR +QMIDFYKDLVTQRVMDQRILEELYNFKHVIEELTRELCLVRAHDVKLTKETEKAHKDLAQALLNAEKNAKIVEEYHDLYTLQRERMENDMKKLVAERDIW +SSATYELALKVIERNRVILARRLYLNEKGWNKYTKHFIILLSNKDTEDLALLQKLTQKWRNLVNKLKQEVEQMEESTSETLKIVKDGLIKWQEFFNEKDI +LSPNKGNIFNSVLLDFKQWQKILNEKKEEFTGDVLLSKYDTLKIIKHLQENWADIGLGIFNRHKSLEGEMPSERQYMEEIIKNIQKLYKEYEIRINGDNG +YSKILPSLISSLDFCSFKLENLEFPDTPLEEWQEIDEKINEMKSHLDILLNLTGIVPQHIDVDSVSVLQAYIFNMIQQWLLKIGNEINNGNIELQHHMDE +LHISMIQWMVNLLILMIPNFTDQDCLLKLEEESAEKHDIGVARLELDAIELTRKLYQYSSYLSSCCKGMVTAMALSKSTNSHKNATEDLYEVDKLKKECY +EWINTCSCLLSNIKGRKITLLTYEEIERLLEEEAVKEFIEPEIDESFKEDEEESKEDRKLQEENKERAEEQPSTSTEKEKLIRFIGEDENVHSKPLFETD +VLSSWRESAKQGTLAQKYLEAMAVIEHMQEKLLEVENRARQAEEKFEDAYEKLHHTLIKNKDLEELVMTSRKESKEEKENQDEREVKEEEEQQEEEEVRS +AENSSKSPKKGH* +>line2352 NM_144696 c.2960_2962del p.E991del protein-altering (position 991 changed from E to ) +MSLPKTPSTPLNSTSTSESKKLKVSVAKEGTRGLPELKEKKNMVDRSKLLPTSLQNEFIPKEVLLSLTYAANAGPCPENLLPPKKIKTPKGTLPRLVDHV +WHHPVRRNKFKYLIDHPVSLTGAGRDISFLYDVTYAKGQTREKAVCPPHLARSLQSHDGVIVPHKPKTLTDTLIPEEFHIVSSTGVSGLECYDDKYTTLL +TDSENRLLLFPSMKPNKRVEVAQLNDVMDTMLERAGVENQEYTGPTKMHKLLHILKKEQTIYNMIFHELIRQVSVDCADRGELLSKVRERYVQMLDQIAR +QMIDFYKDLVTQRVMDQRILEELYNFKHVIEELTRELCLVRAHDVKLTKETEKAHKDLAQALLNAEKNAKIVEEYHDLYTLQRERMENDMKKLVAERDIW +SSATYELALKVIERNRVILARRLYLNEKGWNKYTKHFIILLSNKDTEDLALLQKLTQKWRNLVNKLKQEVEQMEESTSETLKIVKDGLIKWQEFFNEKDI +LSPNKGNIFNSVLLDFKQWQKILNEKKEEFTGDVLLSKYDTLKIIKHLQENWADIGLGIFNRHKSLEGEMPSERQYMEEIIKNIQKLYKEYEIRINGDNG +YSKILPSLISSLDFCSFKLENLEFPDTPLEEWQEIDEKINEMKSHLDILLNLTGIVPQHIDVDSVSVLQAYIFNMIQQWLLKIGNEINNGNIELQHHMDE +LHISMIQWMVNLLILMIPNFTDQDCLLKLEEESAEKHDIGVARLELDAIELTRKLYQYSSYLSSCCKGMVTAMALSKSTNSHKNATEDLYEVDKLKKECY +EWINTCSCLLSNIKGRKITLLTYEEIERLLEEEAVKEFIEPEIDESFKEDEEESKEDRKLQEENKERAEEQPSTSTEKEKLIRFIGEDENVHSKPLFETD +VLSSWRESAKQGTLAQKYLEAMAVIEHMQEKLLEVENRARQAEEKFEDAYEKLHHTLIKNKDLEELVMTSRKESKEEKENQDEREVKEEEQQEEEEVRSA +ENSSKSPKKGH* +>line2690 NM_153826 WILDTYPE +MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCP +YIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPF +SLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSAS +GPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGKADGGAEYATYQTKSTTPAEQRG* +>line2690 NM_153826 c.783_784AA p.Y261_G384del immediate-stopgain (position 261-384 changed from YLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGKADGGAEYATYQTKSTTPAEQRG to ) +MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCP +YIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPF +SLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGF* +>line2907 NM_001373 WILDTYPE +METFIPIDLTTENQEMDKEETKTKPRLLRYEEKKYEDVKPLETQPAEIAEKETLEYKTVRTFSESLKSEKTEDYLRESIIQQHMVSPEPASLKEKGKSRR +KKDQTHACPNVRKARPVSYDRTEPKDDDVIRNIIRLREKLGWQTILPQHSLKYGSSKIAIQKITLKKPLEDDGEFVYCLPRKSPKSLYNPYDLQVVSAHT +AKHCKEFWVITASFISKVINIVGSVKEVELIPTLEWLSERRHYYLLRQFKIFSDFRMNKAFVTWKLNVKRIKTEKSRSFLYHHLFLADDLFQTCLVYIRG +LCEDAINLKNYNDHENNLSAICLVKLDSSRTYSLDEFCEEQLQQATQALKQLEDIRNKAISEMKSTFLKVAEKNEIKEYFESKLSEDDTTHFKLPKYRRL +LETFFKFVMLVDYIFQELIRQLMNTAVTLLLELFNGSAGMPFSVEKKNENLIRTFKDNSFPTGKTTNDCEELVDNSKLHAISVQKSEVKTDTDINEILNS +VEVGKDLRKTYAPIFEVNLCLRIPAESDSSENSKENFHESDQCPEECVMFEDEMSENKDNCVKKHSSEELLPKAKKSKEISYNLEDIISDTEIETEFENK +YMYYEFPEFPTNLFIDPNRLEFSVKIQNMLTNMEKCITTITPLCQDPQLSIFIDLVSIMDLPNKTGSIIHYKEQTRWPDCHILFETDPAYQNIIVNLLTI +IGNSMGLVNAYSHKFIKYCTMTEKAKIMSMKISSMGELTSKEFEAILNRFRNYFRHIVNMAIEKRIGIFNVVSLDYQSECLLYIDNVIHMSHTLIQSVIE +KKNKNLLEVVESSLQQLECDPTEIEEFLEHFIFLNAISSKISKLEKEFLTMSQLYSVAKHHQIHISEEQIAIFQVLLLKFSQLKSSMKLSKINKDTAITK +FRDNLEACISGLHVDVGNLKAKIRTPLLLCAGTQVSTAMEMIQTLSGEAASLTNKAKAYSHYQDCFSDSQSHMHSVNVEEITQIVLSEISDIEGDLTLRK +KLWEAQEEWKRASWEWRNSSLQSIDVESVQRNVSKLMHIISVLEKGLPKSDMVTHLKQVVTEFKQELPIIIALGNPCLKPRHWEALQEIIGKSVPLDKNC +KVENLLALKMFQYENEINDMSTSATNEAALEKMLFKIIDFWNTTPLPLILHHTEIYSIFIIPSIDDISAQLEESQVILATIKGSPHIGPIKDLVNEWDQN +LTLFSYTLEEWMNCQRNWLYLEPVFHSSEIRRQLPAETELFSQVISMWKKIMSKIQNKQNALQITTSAGVLEILQNCNIHLEHIKKSLEDYLEVKRLIFP +RFYFLSNAELLDILADSRNPESVQPHLVKCFENIKQLLIWKQDIGPPAVKMLISAEGEGLVLPKKIRVRSAVEQWLVNVEKSMFDVLKKERYIYNIILLF +QSQIMFYNDCVKSFVSSYSREKLEKVHAGLMCHLEEVADLVVLDTSNSRTKAILGALLILYVHCRDIVINLLLKNIFNAEDFEWTRHLQYKWNEKQKLCY +VSQGNASFTYGYEYLGCTSRLVITPLTDRCWLTLMEALHLNLGGCPAGPAGTGKTETVKDLAKSLGKHCVVFNCFEDLDYKIVRKFFFGLVQSGAWSCFD +EFNLIDLEVLSVIASQILTIKAAKDNYSARFVLEGKEIRINMSCAVFITMNPRYGGGVELPDNLKSLFRPVAMMVPHYQMIAEIILFSFGFKSANSLSGK +LTNLYELARKQLSQQDHYNFGLRSLKIVLIMAGTKKREFKCLSEADETLIVIEAIREASLPKCPPEDVPLFENIIGDIFPEVTVLKVNQLALEKVIYTAT +QQLGLQNWSSQKEKIIQFYNQLQVCVGVMLVGPTGGGKTTVRRILEKALTLLPIADFLSVAERKSASKISERKGKVDICVLNPKCVTLSELYGQLDPNTM +EWTDGLLSATIRSYVYFNTPKNTKKDIDLRLKSRISDLSNVFKLDSSDTTETDDNIFEEIEKVVKIPENHNFDWQWIILDGPVDTFWVENLNSVLDDTRT +LCLANSERIALTNKIRVIFEVDNLSQASPATVSRCAMVYMDPVDLGWEPYVKSWLLKTSKIISQSGVDCLEFMIKNSVTDGLQFIRNRQKFQPYPMEDIT +VVITLCRILDAFFDFMGKNGGFEQSDDLNDTSSKEANSQRESVTFKDIEKRDENTWYPEKNPDKLTKIIQKLFVFAFTWAFGGALNREDEHRENIPFCPS +LEPDSLAKVTYDFDKLVHELFGNSSQVGWKHWGQSQGRRRKGNCINLPTGECSIFGYFVDIEQCEFIPWSDLVPNDQTLIQRGTSLLTNLQRSGGNFLKI +TECGECINYTATRDTTCLSFLMSLLLKNSCPVLLTGESGVGKTAAINQMLEKLEGPGAFDIKHGSILGDTLLYSEIKKSSSLKQNITILIPETHKTATGS +SDNPTKKPEVRTNKKLLKNNDHKGVVVSTINFSTNVTAAKTKEMILKKLIRRTKDTLGAPKNNRILIFIDDMNMPVSDMYGAQPPLELIRQLLDLGGVYD +TEKNTWKNIQDLSIVAACVPVVNDISPRLLKHFSMLVLPHPSQDILCTIFQAHLGIYFSINNFTPEVQKSKDQIISCSLAIYHQVRQNMLPTPTKCHYMF +NLRDMFKLLLGLLQADRTVVNSKEMAALLFVHEATRVFHDRLIDFTDKSLFYRLLSRELENCFQIGIDGCGKKTCATLACYLTDNKLYRVPISHKCAYIE +FKEVFKKVFIHAGLKGKPTVLMVPNLNIEQDSFLEDLNYIISSGRIPDLFENVELDSIAMKIRYLTEQSGHMDNRQSLLSFFQKRIYKNLHIFVIMSPEG +PSFRQNCRVYPSMISSCTIDWYERWPEEALLIVANSFLKEKVNFENRENLKEKLAPTCVQIHKSMKDLNRKYFEETGRFYYTTPNSYLQFMETFAHILRA +REEEMQTKRDRFHMGLSTILEATTLVTEMQEELLILGPQVEQKTKETETLMEKLRKDSQVVEKVQMLVKQDEEIVAEEVRIVEDYAQKTANELKSVLPAF +DKAIVALNALDKADVAELRVYTRPPFLVLTVMNAVCILLQKKPNWATAKLLLSETGFLKKLINLDKDSIPDKVFVKLKKIVTLPDFNPHKISLVSVACCS +LCQWVIALNNYHEVQKVVGPKQIQVAEAQNVLKIARQRLAEKQRGLQLVEEHLLFLQAAYKDTVAEKQLLANRKTMASRRFQCASVLLTVLEDEKTRWQE +TINQIDNKLEGILGDILLSAACIVYSGILTPEFRQLIVNKWETFCIENGISLSSKFSLIKVMAQKYEISRWHNQGLPHGQYSVENAILIKNGQQWPLLID +PHRQAHKWIRQMEGSRLQKLSIEDSNYTKKIENAMKTGGSVLLQNLLETLAPGLKAILKKDIYQKKGHYFIRVGDAEFEYNSNFRLYLSTEIDNPHFLPS +VYNFVTMINFTVTFQGLQDQLLSTVVTHEVPHLEDQRSKLLESISLDAITLEELEEKTLNLLQKALGSILDDDKIVDTLRKSKMTSNEISKRIEATKKAE +SEIQAIRKNYLPIATRGALLYFLVADLTQINYMYQFSLDWFHQVFVSSVVSKSKEQEHSFKREKVSPKEVHEFISISKEPNLENEKNLLDKHIKSAIDML +TKSIFKVVSSALFNEDKLCFSFRLCTVIMQNNANGNLIQDDIGFLPEEEWNIFLYSGILINIKSALSQSRLTSTFEIGESQHLQWLSDSRWRQCQYVSTH +LEPFSLLCKSLLSNVSQWDTFKNSKAVYSLISTPFSSENASLEENTKPPEETELLNENKETCNPINFPWEKLTSFQRLILVKVLRPESLNNSVRKFITEK +MGNKYLQRTGVNLKDAYKGSNARTPLILIQTHGIDLTNILLRFAQELKGTTHHVTIISLGRDQAAKAEDLILKALTKTQQWVFLQNCHLATSFMPRLCTI +VESFNSPNVTIDPEFRLWLSSKSYSSFPIPVLKKGLKIAVESPQGLKSNLLQTFGCTGSGEVTEEIFENPDCGQWWKKLLFSLCFFNAVINERKNYGILG +WNIAYKFNSSDLGVAIKVLENSLRGQPSISWQALRYLIGEVIYGGRVIDNWDKRCLKTLLYKFCNPEVLKDDFSFSRSASIKDYIHIIQSLPDDDLPEVL +GIHPEAIRSCWETQGEKFIENLIAMQPKTTTANLMIRPEQSKDELVMEILSDLLKRLPLTVEKEEIAVGTPSTLKSMMSSSIWESLSKNLKDHDPLIHCV +LLTFLKQEIKRFDKLLFVIHKSLKDLQLAIKGEIILTQELEEIFNSFLNMRVPTLWQKHAYRSCKPLSSWIDDLIQRLNFFNTWAKVAYTAIQRRYMRFV +TVWKQSIPSTSQKCKHPEDSENNFFEGFPSRYWLPAFFFPQAFLAAVLQDYGRSRGIAVDALTFTHHVISNTTDKDEKFSVFMPKKLNIVRRAFKGSASS +HTGVYIFGLFIEGARWNREQKILEDSLPLEMCCDFPDIYFLPTKISTKTPNASNQTDSELYAFECPVYQTPERSRILATTGLPTNFLTSVYLSTKKPPSH +WITMRVALLCEKNEK* +>line2907 NM_001373 c.5769_5772del p.K1925Tfs*5 protein-altering (position 1925-4515 changed from KDIDLRLKSRISDLSNVFKLDSSDTTETDDNIFEEIEKVVKIPENHNFDWQWIILDGPVDTFWVENLNSVLDDTRTLCLANSERIALTNKIRVIFEVDNLSQASPATVSRCAMVYMDPVDLGWEPYVKSWLLKTSKIISQSGVDCLEFMIKNSVTDGLQFIRNRQKFQPYPMEDITVVITLCRILDAFFDFMGKNGGFEQSDDLNDTSSKEANSQRESVTFKDIEKRDENTWYPEKNPDKLTKIIQKLFVFAFTWAFGGALNREDEHRENIPFCPSLEPDSLAKVTYDFDKLVHELFGNSSQVGWKHWGQSQGRRRKGNCINLPTGECSIFGYFVDIEQCEFIPWSDLVPNDQTLIQRGTSLLTNLQRSGGNFLKITECGECINYTATRDTTCLSFLMSLLLKNSCPVLLTGESGVGKTAAINQMLEKLEGPGAFDIKHGSILGDTLLYSEIKKSSSLKQNITILIPETHKTATGSSDNPTKKPEVRTNKKLLKNNDHKGVVVSTINFSTNVTAAKTKEMILKKLIRRTKDTLGAPKNNRILIFIDDMNMPVSDMYGAQPPLELIRQLLDLGGVYDTEKNTWKNIQDLSIVAACVPVVNDISPRLLKHFSMLVLPHPSQDILCTIFQAHLGIYFSINNFTPEVQKSKDQIISCSLAIYHQVRQNMLPTPTKCHYMFNLRDMFKLLLGLLQADRTVVNSKEMAALLFVHEATRVFHDRLIDFTDKSLFYRLLSRELENCFQIGIDGCGKKTCATLACYLTDNKLYRVPISHKCAYIEFKEVFKKVFIHAGLKGKPTVLMVPNLNIEQDSFLEDLNYIISSGRIPDLFENVELDSIAMKIRYLTEQSGHMDNRQSLLSFFQKRIYKNLHIFVIMSPEGPSFRQNCRVYPSMISSCTIDWYERWPEEALLIVANSFLKEKVNFENRENLKEKLAPTCVQIHKSMKDLNRKYFEETGRFYYTTPNSYLQFMETFAHILRAREEEMQTKRDRFHMGLSTILEATTLVTEMQEELLILGPQVEQKTKETETLMEKLRKDSQVVEKVQMLVKQDEEIVAEEVRIVEDYAQKTANELKSVLPAFDKAIVALNALDKADVAELRVYTRPPFLVLTVMNAVCILLQKKPNWATAKLLLSETGFLKKLINLDKDSIPDKVFVKLKKIVTLPDFNPHKISLVSVACCSLCQWVIALNNYHEVQKVVGPKQIQVAEAQNVLKIARQRLAEKQRGLQLVEEHLLFLQAAYKDTVAEKQLLANRKTMASRRFQCASVLLTVLEDEKTRWQETINQIDNKLEGILGDILLSAACIVYSGILTPEFRQLIVNKWETFCIENGISLSSKFSLIKVMAQKYEISRWHNQGLPHGQYSVENAILIKNGQQWPLLIDPHRQAHKWIRQMEGSRLQKLSIEDSNYTKKIENAMKTGGSVLLQNLLETLAPGLKAILKKDIYQKKGHYFIRVGDAEFEYNSNFRLYLSTEIDNPHFLPSVYNFVTMINFTVTFQGLQDQLLSTVVTHEVPHLEDQRSKLLESISLDAITLEELEEKTLNLLQKALGSILDDDKIVDTLRKSKMTSNEISKRIEATKKAESEIQAIRKNYLPIATRGALLYFLVADLTQINYMYQFSLDWFHQVFVSSVVSKSKEQEHSFKREKVSPKEVHEFISISKEPNLENEKNLLDKHIKSAIDMLTKSIFKVVSSALFNEDKLCFSFRLCTVIMQNNANGNLIQDDIGFLPEEEWNIFLYSGILINIKSALSQSRLTSTFEIGESQHLQWLSDSRWRQCQYVSTHLEPFSLLCKSLLSNVSQWDTFKNSKAVYSLISTPFSSENASLEENTKPPEETELLNENKETCNPINFPWEKLTSFQRLILVKVLRPESLNNSVRKFITEKMGNKYLQRTGVNLKDAYKGSNARTPLILIQTHGIDLTNILLRFAQELKGTTHHVTIISLGRDQAAKAEDLILKALTKTQQWVFLQNCHLATSFMPRLCTIVESFNSPNVTIDPEFRLWLSSKSYSSFPIPVLKKGLKIAVESPQGLKSNLLQTFGCTGSGEVTEEIFENPDCGQWWKKLLFSLCFFNAVINERKNYGILGWNIAYKFNSSDLGVAIKVLENSLRGQPSISWQALRYLIGEVIYGGRVIDNWDKRCLKTLLYKFCNPEVLKDDFSFSRSASIKDYIHIIQSLPDDDLPEVLGIHPEAIRSCWETQGEKFIENLIAMQPKTTTANLMIRPEQSKDELVMEILSDLLKRLPLTVEKEEIAVGTPSTLKSMMSSSIWESLSKNLKDHDPLIHCVLLTFLKQEIKRFDKLLFVIHKSLKDLQLAIKGEIILTQELEEIFNSFLNMRVPTLWQKHAYRSCKPLSSWIDDLIQRLNFFNTWAKVAYTAIQRRYMRFVTVWKQSIPSTSQKCKHPEDSENNFFEGFPSRYWLPAFFFPQAFLAAVLQDYGRSRGIAVDALTFTHHVISNTTDKDEKFSVFMPKKLNIVRRAFKGSASSHTGVYIFGLFIEGARWNREQKILEDSLPLEMCCDFPDIYFLPTKISTKTPNASNQTDSELYAFECPVYQTPERSRILATTGLPTNFLTSVYLSTKKPPSHWITMRVALLCEKNEK to TLISD) +METFIPIDLTTENQEMDKEETKTKPRLLRYEEKKYEDVKPLETQPAEIAEKETLEYKTVRTFSESLKSEKTEDYLRESIIQQHMVSPEPASLKEKGKSRR +KKDQTHACPNVRKARPVSYDRTEPKDDDVIRNIIRLREKLGWQTILPQHSLKYGSSKIAIQKITLKKPLEDDGEFVYCLPRKSPKSLYNPYDLQVVSAHT +AKHCKEFWVITASFISKVINIVGSVKEVELIPTLEWLSERRHYYLLRQFKIFSDFRMNKAFVTWKLNVKRIKTEKSRSFLYHHLFLADDLFQTCLVYIRG +LCEDAINLKNYNDHENNLSAICLVKLDSSRTYSLDEFCEEQLQQATQALKQLEDIRNKAISEMKSTFLKVAEKNEIKEYFESKLSEDDTTHFKLPKYRRL +LETFFKFVMLVDYIFQELIRQLMNTAVTLLLELFNGSAGMPFSVEKKNENLIRTFKDNSFPTGKTTNDCEELVDNSKLHAISVQKSEVKTDTDINEILNS +VEVGKDLRKTYAPIFEVNLCLRIPAESDSSENSKENFHESDQCPEECVMFEDEMSENKDNCVKKHSSEELLPKAKKSKEISYNLEDIISDTEIETEFENK +YMYYEFPEFPTNLFIDPNRLEFSVKIQNMLTNMEKCITTITPLCQDPQLSIFIDLVSIMDLPNKTGSIIHYKEQTRWPDCHILFETDPAYQNIIVNLLTI +IGNSMGLVNAYSHKFIKYCTMTEKAKIMSMKISSMGELTSKEFEAILNRFRNYFRHIVNMAIEKRIGIFNVVSLDYQSECLLYIDNVIHMSHTLIQSVIE +KKNKNLLEVVESSLQQLECDPTEIEEFLEHFIFLNAISSKISKLEKEFLTMSQLYSVAKHHQIHISEEQIAIFQVLLLKFSQLKSSMKLSKINKDTAITK +FRDNLEACISGLHVDVGNLKAKIRTPLLLCAGTQVSTAMEMIQTLSGEAASLTNKAKAYSHYQDCFSDSQSHMHSVNVEEITQIVLSEISDIEGDLTLRK +KLWEAQEEWKRASWEWRNSSLQSIDVESVQRNVSKLMHIISVLEKGLPKSDMVTHLKQVVTEFKQELPIIIALGNPCLKPRHWEALQEIIGKSVPLDKNC +KVENLLALKMFQYENEINDMSTSATNEAALEKMLFKIIDFWNTTPLPLILHHTEIYSIFIIPSIDDISAQLEESQVILATIKGSPHIGPIKDLVNEWDQN +LTLFSYTLEEWMNCQRNWLYLEPVFHSSEIRRQLPAETELFSQVISMWKKIMSKIQNKQNALQITTSAGVLEILQNCNIHLEHIKKSLEDYLEVKRLIFP +RFYFLSNAELLDILADSRNPESVQPHLVKCFENIKQLLIWKQDIGPPAVKMLISAEGEGLVLPKKIRVRSAVEQWLVNVEKSMFDVLKKERYIYNIILLF +QSQIMFYNDCVKSFVSSYSREKLEKVHAGLMCHLEEVADLVVLDTSNSRTKAILGALLILYVHCRDIVINLLLKNIFNAEDFEWTRHLQYKWNEKQKLCY +VSQGNASFTYGYEYLGCTSRLVITPLTDRCWLTLMEALHLNLGGCPAGPAGTGKTETVKDLAKSLGKHCVVFNCFEDLDYKIVRKFFFGLVQSGAWSCFD +EFNLIDLEVLSVIASQILTIKAAKDNYSARFVLEGKEIRINMSCAVFITMNPRYGGGVELPDNLKSLFRPVAMMVPHYQMIAEIILFSFGFKSANSLSGK +LTNLYELARKQLSQQDHYNFGLRSLKIVLIMAGTKKREFKCLSEADETLIVIEAIREASLPKCPPEDVPLFENIIGDIFPEVTVLKVNQLALEKVIYTAT +QQLGLQNWSSQKEKIIQFYNQLQVCVGVMLVGPTGGGKTTVRRILEKALTLLPIADFLSVAERKSASKISERKGKVDICVLNPKCVTLSELYGQLDPNTM +EWTDGLLSATIRSYVYFNTPKNTKTLISD* +>line2960 NM_052843 WILDTYPE +MDQPQFSGAPRFLTRPKAFVVSVGKDATLSCQIVGNPTPQVSWEKDQQPVAAGARFRLAQDGDLYRLTILDLALGDSGQYVCRARNAIGEAFAAVGLQVD +AEAACAEQAPHFLLRPTSIRVREGSEATFRCRVGGSPRPAVSWSKDGRRLGEPDGPRVRVEELGEASALRIRAARPRDGGTYEVRAENPLGAASAAAALV +VDSDAADTASRPGTSTAALLAHLQRRREAMRAEGAPASPPSTGTRTCTVTEGKHARLSCYVTGEPKPETVWKKDGQLVTEGRRHVVYEDAQENFVLKILF +CKQSDRGLYTCTASNLVGQTYSSVLVVVREPAVPFKKRLQDLEVREKESATFLCEVPQPSTEAAWFKEETRLWASAKYGIEEEGTERRLTVRNVSADDDA +VYICETPEGSRTVAELAVQGNLLRKLPRKTAVRVGDTAMFCVELAVPVGPVHWLRNQEEVVAGGRVAISAEGTRHTLTISQCCLEDVGQVAFMAGDCQTS +TQFCVSAPRKPPLQPPVDPVVKARMESSVILSWSPPPHGERPVTIDGYLVEKKKLGTYTWIRCHEAEWVATPELTVADVAEEGNFQFRVSALNSFGQSPY +LEFPGTVHLAPKLAVRTPLKAVQAVEGGEVTFSVDLTVASAGEWFLDGQALKASSVYEIHCDRTRHTLTIREVPASLHGAQLKFVANGIESSIRMEVRAA +PGLTANKPPAAAAREVLARLHEEAQLLAELSDQAAAVTWLKDGRTLSPGPKYEVQASAGRRVLLVRDVARDDAGLYECVSRGGRIAYQLSVQGLARFLHK +DMAGSCVDAVAGGPAQFECETSEAHVHVHWYKDGMELGHSGERFLQEDVGTRHRLVAATVTRQDEGTYSCRVGEDSVDFRLRVSEPKVVFAKEQLARRKL +QAEAGASATLSCEVAQAQTEVTWYKDGKKLSSSSKVCMEATGCTRRLVVQQAGQADAGEYSCEAGGQRLSFHLDVKEPKVVFAKDQVAHSEVQAEAGASA +TLSCEVAQAQTEVMWYKDGKKLSSSLKVHVEAKGCRRRLVVQQAGKTDAGDYSCEARGQRVSFRLHITEPKMMFAKEQSVHNEVQAEAGASAMLSCEVAQ +AQTEVTWYKDGKKLSSSSKVGMEVKGCTRRLVLPQAGKADAGEYSCEAGGQRVSFHLHITEPKGVFAKEQSVHNEVQAEAGTTAMLSCEVAQPQTEVTWY +KDGKKLSSSSKVRMEVKGCTRRLVVQQVGKADAGEYSCEAGGQRVSFQLHITEPKAVFAKEQLVHNEVRTEAGASATLSCEVAQAQTEVTWYKDGKKLSS +SSKVRIEAAGCMRQLVVQQAGQADAGEYTCEAGGQRLSFHLDVSEPKAVFAKEQLAHRKVQAEAGAIATLSCEVAQAQTEVTWYKDGKKLSSSSKVRMEA +VGCTRRLVVQQACQADTGEYSCEAGGQRLSFSLDVAEPKVVFAKEQPVHREVQAQAGASTTLSCEVAQAQTEVMWYKDGKKLSFSSKVRMEAVGCTRRLV +VQQAGQAVAGEYSCEAGSQRLSFHLHVAEPKAVFAKEQPASREVQAEAGTSATLSCEVAQAQTEVTWYKDGKKLSSSSKVRMEAVGCTRRLVVQEAGQAD +AGEYSCKAGDQRLSFHLHVAEPKVVFAKEQPAHREVQAEAGASATLSCEVAQAQTEVTWYKDGKKLSSSSKVRVEAVGCTRRLVVQQAGQAEAGEYSCEA +GGQQLSFRLQVAELEPQISERPCRREPLVVKEHEDIILTATLATPSAATVTWLKDGVEIRRSKRHETASQGDTHTLTVHGAQVLDSAIYSCRVGAEGQDF +PVQVEEVAAKFCRLLEPVCGELGGTVTLACELSPACAEVVWRCGNTQLRVGKRFQMVAEGPVRSLTVLGLRAEDAGEYVCESRDDHTSAQLTVSVPRVVK +FMSGLSTVVAEEGGEATFQCVVSPSDVAVVWFRDGALLQPSEKFAISQSGASHSLTISDLVLEDAGQITVEAEGASSSAALRVREAPVLFKKKLEPQTVE +ERSSVTLEVELTRPWPELRWTRNATALAPGKNVEIHAEGARHRLVLHNVGFADRGFFGCETPDDKTQAKLTVEMRQVRLVRGLQAVEAREQGTATMEVQL +SHADVDGSWTRDGLRFQQGPTCHLAVRGPMHTLTLSGLRPEDSGLMVFKAEGVHTSARLVVTELPVSFSRPLQDVVTTEKEKVTLECELSRPNVDVRWLK +DGVELRAGKTMAIAAQGACRSLTIYRCEFADQGVYVCDAHDAQSSASVKVQGRTYTLIYRRVLAEDAGEIQFVAENAESRAQLRVKELPVTLVRPLRDKI +AMEKHRGVLECQVSRASAQVRWFKGSQELQPGPKYELVSDGLYRKLIISDVHAEDEDTYTCDAGDVKTSAQFFVEEQSITIVRGLQDVTVMEPAPAWFEC +ETSIPSVRPPKWLLGKTVLQAGGNVGLEQEGTVHRLMLRRTCSTMTGPVHFTVGKSRSSARLVVSDIPVVLTRPLEPKTGRELQSVVLSCDFRPAPKAVQ +WYKDDTPLSPSEKFKMSLEGQMAELRILRLMPADAGVYRCQAGSAHSSTEVTVEAREVTVTGPLQDAEATEEGWASFSCELSHEDEEVEWSLNGMPLYND +SFHEISHKGRRHTLVLKSIQRADAGIVRASSLKVSTSARLEVRVKPVVFLKALDDLSAEERGTLALQCEVSDPEAHVVWRKDGVQLGPSDKYDFLHTAGT +RGLVVHDVSPEDAGLYTCHVGSEETRARVRVHDLHVGITKRLKTMEVLEGESCSFECVLSHESASDPAMWTVGGKTVGSSSRFQATRQGRKYILVVREAA +PSDAGEVVFSVRGLTSKASLIVRERPAAIIKPLEDQWVAPGEDVELRCELSRAGTPVHWLKDRKAIRKSQKYDVVCEGTMAMLVIRGASLKDAGEYTCEV +EASKSTASLHVEEKANCFTEELTNLQVEEKGTAVFTCKTEHPAATVTWRKGLLELRASGKHQPSQEGLTLRLTISALEKADSDTYTCDIGQAQSRAQLLV +QGRRVHIIEDLEDVDVQEGSSATFRCRISPANYEPVHWFLDKTPLHANELNEIDAQPGGYHVLTLRQLALKDSGTIYFEAGDQRASAALRVTEKPSVFSR +ELTDATITEGEDLTLVCETSTCDIPVCWTKDGKTLRGSARCQLSHEGHRAQLLITGATLQDSGRYKCEAGGACSSSIVRVHARPVRFQEALKDLEVLEGG +AATLRCVLSSVAAPVKWCYGNNVLRPGDKYSLRQEGAMLELVVRNLRPQDSGRYSCSFGDQTTSATLTVTALPAQFIGKLRNKEATEGATATLRCELSKA +APVEWRKGSETLRDGDRYCLRQDGAMCELQIRGLAMVDAAEYSCVCGEERTSASLTIRPMPAHFIGRLRHQESIEGATATLRCELSKAAPVEWRKGRESL +RDGDRHSLRQDGAVCELQICGLAVADAGEYSCVCGEERTSATLTVKALPAKFTEGLRNEEAVEGATAMLWCELSKVAPVEWRKGPENLRDGDRYILRQEG +TRCELQICGLAMADAGEYLCVCGQERTSATLTIRALPARFIEDVKNQEAREGATAVLQCELNSAAPVEWRKGSETLRDGDRYSLRQDGTKCELQIRGLAM +ADTGEYSCVCGQERTSAMLTVRALPIKFTEGLRNEEATEGATAVLRCELSKMAPVEWWKGHETLRDGDRHSLRQDGARCELQIRGLVAEDAGEYLCMCGK +ERTSAMLTVRAMPSKFIEGLRNEEATEGDTATLWCELSKAAPVEWRKGHETLRDGDRHSLRQDGSRCELQIRGLAVVDAGEYSCVCGQERTSATLTVRAL +PARFIEDVKNQEAREGATAVLQCELSKAAPVEWRKGSETLRGGDRYSLRQDGTRCELQIHGLSVADTGEYSCVCGQERTSATLTVRAPQPVFREPLQSLQ +AEEGSTATLQCELSEPTATVVWSKGGLQLQANGRREPRLQGCTAELVLQDLQREDTGEYTCTCGSQATSATLTVTAAPVRFLRELQHQEVDEGGTAHLCC +ELSRAGASVEWRKGSLQLFPCAKYQMVQDGAAAELLVRGVEQEDAGDYTCDTGHTQSMASLSVRVPRPKFKTRLQSLEQETGDIARLCCQLSDAESGAVV +QWLKEGVELHAGPKYEMRSQGATRELLIHQLEAKDTGEYACVTGGQKTAASLRVTEPEVTIVRGLVDAEVTADEDVEFSCEVSRAGATGVQWCLQGLPLQ +SNEVTEVAVRDGRIHTLRLKGVTPEDAGTVSFHLGNHASSAQLTVRAPEVTILEPLQDVQLSEGQDASFQCRLSRASGQEARWALGGVPLQANEMNDITV +EQGTLHLLTLHKVTLEDAGTVSFHVGTCSSEAQLKVTAKNTVVRGLENVEALEGGEALFECQLSQPEVAAHTWLLDDEPVHTSENAEVVFFENGLRHLLL +LKNLRPQDSCRVTFLAGDMVTSAFLTVRGWRLEILEPLKNAAVRAGAQACFTCTLSEAVPVGEASWYINGAAVQPDDSDWTVTADGSHHALLLRSAQPHH +AGEVTFACRDAVASARLTVLGLPDPPEDAEVVARSSHTVTLSWAAPMSDGGGGLCGYRVEVKEGATGQWRLCHELVPGPECVVDGLAPGETYRFRVAAVG +PVGAGEPVHLPQTVRLAEPPKPVPPQPSAPESRQVAAGEDVSLELEVVAEAGEVIWHKGMERIQPGGRFEVVSQGRQQMLVIKGFTAEDQGEYHCGLAQG +SICPAAATFQVALSPASVDEAPQPSLPPEAAQEGDLHLLWEALARKRRMSREPTLDSISELPEEDGRSQRLPQEAEEVAPDLSEGYSTADELARTGDADL +SHTSSDDESRAGTPSLVTYLKKAGRPGTSPLASKVGAPAAPSVKPQQQQEPLAAVRPPLGDLSTKDLGDPSMDKAAVKIQAAFKGYKVRKEMKQQEGPMF +SHTFGDTEAQVGDALRLECVVASKADVRARWLKDGVELTDGRHHHIDQLGDGTCSLLITGLDRADAGCYTCQVSNKFGQVTHSACVVVSGSESEAESSSG +GELDDAFRRAARRLHRLFRTKSPAEVSDEELFLSADEGPAEPEEPADWQTYREDEHFICIRFEALTEARQAVTRFQEMFATLGIGVEIKLVEQGPRRVEM +CISKETPAPVVPPEPLPSLLTSDAAPVFLTELQNQEVQDGYPVSFDCVVTGQPMPSVRWFKDGKLLEEDDHYMINEDQQGGHQLIITAVVPADMGVYRCL +AENSMGVSSTKAELRVDLTSTDYDTAADATESSSYFSAQGYLSSREQEGTESTTDEGQLPQVVEELRDLQVAPGTRLAKFQLKVKGYPAPRLYWFKDGQP +LTASAHIRMTDKKILHTLEIISVTREDSGQYAAYISNAMGAAYSSARLLVRGPDEPEEKPASDVHEQLVPPRMLERFTPKKVKKGSSITFSVKVEGRPVP +TVHWLREEAERGVLWIGPDTPGYTVASSAQQHSLVLLDVGRQHQGTYTCIASNAAGQALCSASLHVSGLPKVEEQEKVKEALISTFLQGTTQAISAQGLE +TASFADLGGQRKEEPLAAKEALGHLSLAEVGTEEFLQKLTSQITEMVSAKITQAKLQVPGGDSDEDSKTPSASPRHGRSRPSSSIQESSSESEDGDARGE +IFDIYVVTADYLPLGAEQDAITLREGQYVEVLDAAHPLRWLVRTKPTKSSPSRQGWVSPAYLDRRLKLSPEWGAAEAPEFPGEAVSEDEYKARLSSVIQE +LLSSEQAFVEELQFLQSHHLQHLERCPHVPIAVAGQKAVIFRNVRDIGRFHSSFLQELQQCDTDDDVAMCFIKNQAAFEQYLEFLVGRVQAESVVVSTAI +QEFYKKYAEEALLAGDPSQPPPPPLQHYLEQPVERVQRYQALLKELIRNKARNRQNCALLEQAYAVVSALPQRAENKLHVSLMENYPGTLQALGEPIRQG +HFIVWEGAPGARMPWKGHNRHVFLFRNHLVICKPRRDSRTDTVSYVFRNMMKLSSIDLNDQVEGDDRAFEVWQEREDSVRKYLLQARTAIIKSSWVKEIC +GIQQRLALPVWRPPDFEEELADCTAELGETVKLACRVTGTPKPVISWYKDGKAVQVDPHHILIEDPDGSCALILDSLTGVDSGQYMCFAASAAGNCSTLG +KILVQVPPRFVNKVRASPFVEGEDAQFTCTIEGAPYPQIRWYKDGALLTTGNKFQTLSEPRSGLLVLVIRAASKEDLGLYECELVNRLGSARASAELRIQ +SPMLQAQEQCHREQLVAAVEVTEQETKVPKKTVIIEETITTVVKSPRGQRRSPSKSPSRSPSRCSASPLRPGLLAPDLLYLPGAGQPRRPEAEPGQKPVV +PTLYVTEAEAHSPALPGLSGPQPKWVEVEETIEVRVKKMGPQGVSPTTEVPRSSSGHLFTLPGATPGGDPNSNNSNNKLLAQEAWAQGTAMVGVREPLVF +RVDARGSVDWAASGMGSLEEEGTMEEAGEEEGEDGDAFVTEESQDTHSLGDRDPKILTHNGRMLTLADLEDYVPGEGETFHCGGPGPGAPDDPPCEVSVI +QREIGEPTVGQPVLLSVGHALGPRGPLGLFRPEPRGASPPGPQVRSLEGTSFLLREAPARPVGSAPWTQSFCTRIRRSADSGQSSFTTELSTQTVNFGTV +GETVTLHICPDRDGDEAAQP* +>line2960 NM_052843 c.2721_2722CA p.A908T protein-altering (position 908 changed from A to T) +MDQPQFSGAPRFLTRPKAFVVSVGKDATLSCQIVGNPTPQVSWEKDQQPVAAGARFRLAQDGDLYRLTILDLALGDSGQYVCRARNAIGEAFAAVGLQVD +AEAACAEQAPHFLLRPTSIRVREGSEATFRCRVGGSPRPAVSWSKDGRRLGEPDGPRVRVEELGEASALRIRAARPRDGGTYEVRAENPLGAASAAAALV +VDSDAADTASRPGTSTAALLAHLQRRREAMRAEGAPASPPSTGTRTCTVTEGKHARLSCYVTGEPKPETVWKKDGQLVTEGRRHVVYEDAQENFVLKILF +CKQSDRGLYTCTASNLVGQTYSSVLVVVREPAVPFKKRLQDLEVREKESATFLCEVPQPSTEAAWFKEETRLWASAKYGIEEEGTERRLTVRNVSADDDA +VYICETPEGSRTVAELAVQGNLLRKLPRKTAVRVGDTAMFCVELAVPVGPVHWLRNQEEVVAGGRVAISAEGTRHTLTISQCCLEDVGQVAFMAGDCQTS +TQFCVSAPRKPPLQPPVDPVVKARMESSVILSWSPPPHGERPVTIDGYLVEKKKLGTYTWIRCHEAEWVATPELTVADVAEEGNFQFRVSALNSFGQSPY +LEFPGTVHLAPKLAVRTPLKAVQAVEGGEVTFSVDLTVASAGEWFLDGQALKASSVYEIHCDRTRHTLTIREVPASLHGAQLKFVANGIESSIRMEVRAA +PGLTANKPPAAAAREVLARLHEEAQLLAELSDQAAAVTWLKDGRTLSPGPKYEVQASAGRRVLLVRDVARDDAGLYECVSRGGRIAYQLSVQGLARFLHK +DMAGSCVDAVAGGPAQFECETSEAHVHVHWYKDGMELGHSGERFLQEDVGTRHRLVAATVTRQDEGTYSCRVGEDSVDFRLRVSEPKVVFAKEQLARRKL +QAEAGASTTLSCEVAQAQTEVTWYKDGKKLSSSSKVCMEATGCTRRLVVQQAGQADAGEYSCEAGGQRLSFHLDVKEPKVVFAKDQVAHSEVQAEAGASA +TLSCEVAQAQTEVMWYKDGKKLSSSLKVHVEAKGCRRRLVVQQAGKTDAGDYSCEARGQRVSFRLHITEPKMMFAKEQSVHNEVQAEAGASAMLSCEVAQ +AQTEVTWYKDGKKLSSSSKVGMEVKGCTRRLVLPQAGKADAGEYSCEAGGQRVSFHLHITEPKGVFAKEQSVHNEVQAEAGTTAMLSCEVAQPQTEVTWY +KDGKKLSSSSKVRMEVKGCTRRLVVQQVGKADAGEYSCEAGGQRVSFQLHITEPKAVFAKEQLVHNEVRTEAGASATLSCEVAQAQTEVTWYKDGKKLSS +SSKVRIEAAGCMRQLVVQQAGQADAGEYTCEAGGQRLSFHLDVSEPKAVFAKEQLAHRKVQAEAGAIATLSCEVAQAQTEVTWYKDGKKLSSSSKVRMEA +VGCTRRLVVQQACQADTGEYSCEAGGQRLSFSLDVAEPKVVFAKEQPVHREVQAQAGASTTLSCEVAQAQTEVMWYKDGKKLSFSSKVRMEAVGCTRRLV +VQQAGQAVAGEYSCEAGSQRLSFHLHVAEPKAVFAKEQPASREVQAEAGTSATLSCEVAQAQTEVTWYKDGKKLSSSSKVRMEAVGCTRRLVVQEAGQAD +AGEYSCKAGDQRLSFHLHVAEPKVVFAKEQPAHREVQAEAGASATLSCEVAQAQTEVTWYKDGKKLSSSSKVRVEAVGCTRRLVVQQAGQAEAGEYSCEA +GGQQLSFRLQVAELEPQISERPCRREPLVVKEHEDIILTATLATPSAATVTWLKDGVEIRRSKRHETASQGDTHTLTVHGAQVLDSAIYSCRVGAEGQDF +PVQVEEVAAKFCRLLEPVCGELGGTVTLACELSPACAEVVWRCGNTQLRVGKRFQMVAEGPVRSLTVLGLRAEDAGEYVCESRDDHTSAQLTVSVPRVVK +FMSGLSTVVAEEGGEATFQCVVSPSDVAVVWFRDGALLQPSEKFAISQSGASHSLTISDLVLEDAGQITVEAEGASSSAALRVREAPVLFKKKLEPQTVE +ERSSVTLEVELTRPWPELRWTRNATALAPGKNVEIHAEGARHRLVLHNVGFADRGFFGCETPDDKTQAKLTVEMRQVRLVRGLQAVEAREQGTATMEVQL +SHADVDGSWTRDGLRFQQGPTCHLAVRGPMHTLTLSGLRPEDSGLMVFKAEGVHTSARLVVTELPVSFSRPLQDVVTTEKEKVTLECELSRPNVDVRWLK +DGVELRAGKTMAIAAQGACRSLTIYRCEFADQGVYVCDAHDAQSSASVKVQGRTYTLIYRRVLAEDAGEIQFVAENAESRAQLRVKELPVTLVRPLRDKI +AMEKHRGVLECQVSRASAQVRWFKGSQELQPGPKYELVSDGLYRKLIISDVHAEDEDTYTCDAGDVKTSAQFFVEEQSITIVRGLQDVTVMEPAPAWFEC +ETSIPSVRPPKWLLGKTVLQAGGNVGLEQEGTVHRLMLRRTCSTMTGPVHFTVGKSRSSARLVVSDIPVVLTRPLEPKTGRELQSVVLSCDFRPAPKAVQ +WYKDDTPLSPSEKFKMSLEGQMAELRILRLMPADAGVYRCQAGSAHSSTEVTVEAREVTVTGPLQDAEATEEGWASFSCELSHEDEEVEWSLNGMPLYND +SFHEISHKGRRHTLVLKSIQRADAGIVRASSLKVSTSARLEVRVKPVVFLKALDDLSAEERGTLALQCEVSDPEAHVVWRKDGVQLGPSDKYDFLHTAGT +RGLVVHDVSPEDAGLYTCHVGSEETRARVRVHDLHVGITKRLKTMEVLEGESCSFECVLSHESASDPAMWTVGGKTVGSSSRFQATRQGRKYILVVREAA +PSDAGEVVFSVRGLTSKASLIVRERPAAIIKPLEDQWVAPGEDVELRCELSRAGTPVHWLKDRKAIRKSQKYDVVCEGTMAMLVIRGASLKDAGEYTCEV +EASKSTASLHVEEKANCFTEELTNLQVEEKGTAVFTCKTEHPAATVTWRKGLLELRASGKHQPSQEGLTLRLTISALEKADSDTYTCDIGQAQSRAQLLV +QGRRVHIIEDLEDVDVQEGSSATFRCRISPANYEPVHWFLDKTPLHANELNEIDAQPGGYHVLTLRQLALKDSGTIYFEAGDQRASAALRVTEKPSVFSR +ELTDATITEGEDLTLVCETSTCDIPVCWTKDGKTLRGSARCQLSHEGHRAQLLITGATLQDSGRYKCEAGGACSSSIVRVHARPVRFQEALKDLEVLEGG +AATLRCVLSSVAAPVKWCYGNNVLRPGDKYSLRQEGAMLELVVRNLRPQDSGRYSCSFGDQTTSATLTVTALPAQFIGKLRNKEATEGATATLRCELSKA +APVEWRKGSETLRDGDRYCLRQDGAMCELQIRGLAMVDAAEYSCVCGEERTSASLTIRPMPAHFIGRLRHQESIEGATATLRCELSKAAPVEWRKGRESL +RDGDRHSLRQDGAVCELQICGLAVADAGEYSCVCGEERTSATLTVKALPAKFTEGLRNEEAVEGATAMLWCELSKVAPVEWRKGPENLRDGDRYILRQEG +TRCELQICGLAMADAGEYLCVCGQERTSATLTIRALPARFIEDVKNQEAREGATAVLQCELNSAAPVEWRKGSETLRDGDRYSLRQDGTKCELQIRGLAM +ADTGEYSCVCGQERTSAMLTVRALPIKFTEGLRNEEATEGATAVLRCELSKMAPVEWWKGHETLRDGDRHSLRQDGARCELQIRGLVAEDAGEYLCMCGK +ERTSAMLTVRAMPSKFIEGLRNEEATEGDTATLWCELSKAAPVEWRKGHETLRDGDRHSLRQDGSRCELQIRGLAVVDAGEYSCVCGQERTSATLTVRAL +PARFIEDVKNQEAREGATAVLQCELSKAAPVEWRKGSETLRGGDRYSLRQDGTRCELQIHGLSVADTGEYSCVCGQERTSATLTVRAPQPVFREPLQSLQ +AEEGSTATLQCELSEPTATVVWSKGGLQLQANGRREPRLQGCTAELVLQDLQREDTGEYTCTCGSQATSATLTVTAAPVRFLRELQHQEVDEGGTAHLCC +ELSRAGASVEWRKGSLQLFPCAKYQMVQDGAAAELLVRGVEQEDAGDYTCDTGHTQSMASLSVRVPRPKFKTRLQSLEQETGDIARLCCQLSDAESGAVV +QWLKEGVELHAGPKYEMRSQGATRELLIHQLEAKDTGEYACVTGGQKTAASLRVTEPEVTIVRGLVDAEVTADEDVEFSCEVSRAGATGVQWCLQGLPLQ +SNEVTEVAVRDGRIHTLRLKGVTPEDAGTVSFHLGNHASSAQLTVRAPEVTILEPLQDVQLSEGQDASFQCRLSRASGQEARWALGGVPLQANEMNDITV +EQGTLHLLTLHKVTLEDAGTVSFHVGTCSSEAQLKVTAKNTVVRGLENVEALEGGEALFECQLSQPEVAAHTWLLDDEPVHTSENAEVVFFENGLRHLLL +LKNLRPQDSCRVTFLAGDMVTSAFLTVRGWRLEILEPLKNAAVRAGAQACFTCTLSEAVPVGEASWYINGAAVQPDDSDWTVTADGSHHALLLRSAQPHH +AGEVTFACRDAVASARLTVLGLPDPPEDAEVVARSSHTVTLSWAAPMSDGGGGLCGYRVEVKEGATGQWRLCHELVPGPECVVDGLAPGETYRFRVAAVG +PVGAGEPVHLPQTVRLAEPPKPVPPQPSAPESRQVAAGEDVSLELEVVAEAGEVIWHKGMERIQPGGRFEVVSQGRQQMLVIKGFTAEDQGEYHCGLAQG +SICPAAATFQVALSPASVDEAPQPSLPPEAAQEGDLHLLWEALARKRRMSREPTLDSISELPEEDGRSQRLPQEAEEVAPDLSEGYSTADELARTGDADL +SHTSSDDESRAGTPSLVTYLKKAGRPGTSPLASKVGAPAAPSVKPQQQQEPLAAVRPPLGDLSTKDLGDPSMDKAAVKIQAAFKGYKVRKEMKQQEGPMF +SHTFGDTEAQVGDALRLECVVASKADVRARWLKDGVELTDGRHHHIDQLGDGTCSLLITGLDRADAGCYTCQVSNKFGQVTHSACVVVSGSESEAESSSG +GELDDAFRRAARRLHRLFRTKSPAEVSDEELFLSADEGPAEPEEPADWQTYREDEHFICIRFEALTEARQAVTRFQEMFATLGIGVEIKLVEQGPRRVEM +CISKETPAPVVPPEPLPSLLTSDAAPVFLTELQNQEVQDGYPVSFDCVVTGQPMPSVRWFKDGKLLEEDDHYMINEDQQGGHQLIITAVVPADMGVYRCL +AENSMGVSSTKAELRVDLTSTDYDTAADATESSSYFSAQGYLSSREQEGTESTTDEGQLPQVVEELRDLQVAPGTRLAKFQLKVKGYPAPRLYWFKDGQP +LTASAHIRMTDKKILHTLEIISVTREDSGQYAAYISNAMGAAYSSARLLVRGPDEPEEKPASDVHEQLVPPRMLERFTPKKVKKGSSITFSVKVEGRPVP +TVHWLREEAERGVLWIGPDTPGYTVASSAQQHSLVLLDVGRQHQGTYTCIASNAAGQALCSASLHVSGLPKVEEQEKVKEALISTFLQGTTQAISAQGLE +TASFADLGGQRKEEPLAAKEALGHLSLAEVGTEEFLQKLTSQITEMVSAKITQAKLQVPGGDSDEDSKTPSASPRHGRSRPSSSIQESSSESEDGDARGE +IFDIYVVTADYLPLGAEQDAITLREGQYVEVLDAAHPLRWLVRTKPTKSSPSRQGWVSPAYLDRRLKLSPEWGAAEAPEFPGEAVSEDEYKARLSSVIQE +LLSSEQAFVEELQFLQSHHLQHLERCPHVPIAVAGQKAVIFRNVRDIGRFHSSFLQELQQCDTDDDVAMCFIKNQAAFEQYLEFLVGRVQAESVVVSTAI +QEFYKKYAEEALLAGDPSQPPPPPLQHYLEQPVERVQRYQALLKELIRNKARNRQNCALLEQAYAVVSALPQRAENKLHVSLMENYPGTLQALGEPIRQG +HFIVWEGAPGARMPWKGHNRHVFLFRNHLVICKPRRDSRTDTVSYVFRNMMKLSSIDLNDQVEGDDRAFEVWQEREDSVRKYLLQARTAIIKSSWVKEIC +GIQQRLALPVWRPPDFEEELADCTAELGETVKLACRVTGTPKPVISWYKDGKAVQVDPHHILIEDPDGSCALILDSLTGVDSGQYMCFAASAAGNCSTLG +KILVQVPPRFVNKVRASPFVEGEDAQFTCTIEGAPYPQIRWYKDGALLTTGNKFQTLSEPRSGLLVLVIRAASKEDLGLYECELVNRLGSARASAELRIQ +SPMLQAQEQCHREQLVAAVEVTEQETKVPKKTVIIEETITTVVKSPRGQRRSPSKSPSRSPSRCSASPLRPGLLAPDLLYLPGAGQPRRPEAEPGQKPVV +PTLYVTEAEAHSPALPGLSGPQPKWVEVEETIEVRVKKMGPQGVSPTTEVPRSSSGHLFTLPGATPGGDPNSNNSNNKLLAQEAWAQGTAMVGVREPLVF +RVDARGSVDWAASGMGSLEEEGTMEEAGEEEGEDGDAFVTEESQDTHSLGDRDPKILTHNGRMLTLADLEDYVPGEGETFHCGGPGPGAPDDPPCEVSVI +QREIGEPTVGQPVLLSVGHALGPRGPLGLFRPEPRGASPPGPQVRSLEGTSFLLREAPARPVGSAPWTQSFCTRIRRSADSGQSSFTTELSTQTVNFGTV +GETVTLHICPDRDGDEAAQP* +>line3082 NM_006499 WILDTYPE +MMLSLNNLQNIIYNPVIPFVGTIPDQLDPGTLIVIRGHVPSDADRFQVDLQNGSSMKPRADVAFHFNPRFKRAGCIVCNTLINEKWGREEITYDTPFKRE +KSFEIVIMVLKDKFQVAVNGKHTLLYGHRIGPEKIDTLGIYGKVNIHSIGFSFSSDLQSTQASSLELTEISRENVPKSGTPQLPSNRGGDISKIAPRTVY +TKSKDSTVNHTLTCTKIPPMNYVSKRLPFAARLNTPMGPGRTVVVKGEVNANAKSFNVDLLAGKSKDIALHLNPRLNIKAFVRNSFLQESWGEEERNITS +FPFSPGMYFEMIIYCDVREFKVAVNGVHSLEYKHRFKELSSIDTLEINGDIHLLEVRSW* +>line3082 NM_006499 c.165_166TG p.M56V protein-altering (position 56 changed from M to V) +MMLSLNNLQNIIYNPVIPFVGTIPDQLDPGTLIVIRGHVPSDADRFQVDLQNGSSVKPRADVAFHFNPRFKRAGCIVCNTLINEKWGREEITYDTPFKRE +KSFEIVIMVLKDKFQVAVNGKHTLLYGHRIGPEKIDTLGIYGKVNIHSIGFSFSSDLQSTQASSLELTEISRENVPKSGTPQLPSNRGGDISKIAPRTVY +TKSKDSTVNHTLTCTKIPPMNYVSKRLPFAARLNTPMGPGRTVVVKGEVNANAKSFNVDLLAGKSKDIALHLNPRLNIKAFVRNSFLQESWGEEERNITS +FPFSPGMYFEMIIYCDVREFKVAVNGVHSLEYKHRFKELSSIDTLEINGDIHLLEVRSW* +>line3260 NM_001001966 WILDTYPE +MANLTIVTEFILMGFSTNKNMCILHSILFLLIYLCALMGNVLIIMITTLDHHLHTPVYFFLKNLSFLDLCLISVTAPKSIANSLIHNNSISFLGCVSQVF +LLLSSASAELLLLTVMSFDRYTAICHPLHYDVIMDRSTCVQRATVSWLYGGLIAVMHTAGTFSLSYCGSNMVHQFFCDIPQLLAISCSENLIREIALILI +NVVLDFCCFIVIIITYVHVFSTVKKIPSTEGQSKAYSICLPHLLVVLFLSTGFIAYLKPASESPSILDAVISVFYTMLPPTFNPIIYSLRNKAIKVALGM +LIKGKLTKK* +>line3260 NM_001001966 c.488_490del p.S163del protein-altering (position 163 changed from S to ) +MANLTIVTEFILMGFSTNKNMCILHSILFLLIYLCALMGNVLIIMITTLDHHLHTPVYFFLKNLSFLDLCLISVTAPKSIANSLIHNNSISFLGCVSQVF +LLLSSASAELLLLTVMSFDRYTAICHPLHYDVIMDRSTCVQRATVSWLYGGLIAVMHTAGTFLSYCGSNMVHQFFCDIPQLLAISCSENLIREIALILIN +VVLDFCCFIVIIITYVHVFSTVKKIPSTEGQSKAYSICLPHLLVVLFLSTGFIAYLKPASESPSILDAVISVFYTMLPPTFNPIIYSLRNKAIKVALGML +IKGKLTKK* +>line3493 NM_000384 WILDTYPE +MDPPRPALLALLALPALLLLLLAGARAEEEMLENVSLVCPKDATRFKHLRKYTYNYEAESSSGVPGTADSRSATRINCKVELEVPQLCSFILKTSQCTLK +EVYGFNPEGKALLKKTKNSEEFAAAMSRYELKLAIPEGKQVFLYPEKDEPTYILNIKRGIISALLVPPETEEAKQVLFLDTVYGNCSTHFTVKTRKGNVA +TEISTERDLGQCDRFKPIRTGISPLALIKGMTRPLSTLISSSQSCQYTLDAKRKHVAEAICKEQHLFLPFSYKNKYGMVAQVTQTLKLEDTPKINSRFFG +EGTKKMGLAFESTKSTSPPKQAEAVLKTLQELKKLTISEQNIQRANLFNKLVTELRGLSDEAVTSLLPQLIEVSSPITLQALVQCGQPQCSTHILQWLKR +VHANPLLIDVVTYLVALIPEPSAQQLREIFNMARDQRSRATLYALSHAVNNYHKTNPTGTQELLDIANYLMEQIQDDCTGDEDYTYLILRVIGNMGQTME +QLTPELKSSILKCVQSTKPSLMIQKAAIQALRKMEPKDKDQEVLLQTFLDDASPGDKRLAAYLMLMRSPSQADINKIVQILPWEQNEQVKNFVASHIANI +LNSEELDIQDLKKLVKEALKESQLPTVMDFRKFSRNYQLYKSVSLPSLDPASAKIEGNLIFDPNNYLPKESMLKTTLTAFGFASADLIEIGLEGKGFEPT +LEALFGKQGFFPDSVNKALYWVNGQVPDGVSKVLVDHFGYTKDDKHEQDMVNGIMLSVEKLIKDLKSKEVPEARAYLRILGEELGFASLHDLQLLGKLLL +MGARTLQGIPQMIGEVIRKGSKNDFFLHYIFMENAFELPTGAGLQLQISSSGVIAPGAKAGVKLEVANMQAELVAKPSVSVEFVTNMGIIIPDFARSGVQ +MNTNFFHESGLEAHVALKAGKLKFIIPSPKRPVKLLSGGNTLHLVSTTKTEVIPPLIENRQSWSVCKQVFPGLNYCTSGAYSNASSTDSASYYPLTGDTR +LELELRPTGEIEQYSVSATYELQREDRALVDTLKFVTQAEGAKQTEATMTFKYNRQSMTLSSEVQIPDFDVDLGTILRVNDESTEGKTSYRLTLDIQNKK +ITEVALMGHLSCDTKEERKIKGVISIPRLQAEARSEILAHWSPAKLLLQMDSSATAYGSTVSKRVAWHYDEEKIEFEWNTGTNVDTKKMTSNFPVDLSDY +PKSLHMYANRLLDHRVPQTDMTFRHVGSKLIVAMSSWLQKASGSLPYTQTLQDHLNSLKEFNLQNMGLPDFHIPENLFLKSDGRVKYTLNKNSLKIEIPL +PFGGKSSRDLKMLETVRTPALHFKSVGFHLPSREFQVPTFTIPKLYQLQVPLLGVLDLSTNVYSNLYNWSASYSGGNTSTDHFSLRARYHMKADSVVDLL +SYNVQGSGETTYDHKNTFTLSYDGSLRHKFLDSNIKFSHVEKLGNNPVSKGLLIFDASSSWGPQMSASVHLDSKKKQHLFVKEVKIDGQFRVSSFYAKGT +YGLSCQRDPNTGRLNGESNLRFNSSYLQGTNQITGRYEDGTLSLTSTSDLQSGIIKNTASLKYENYELTLKSDTNGKYKNFATSNKMDMTFSKQNALLRS +EYQADYESLRFFSLLSGSLNSHGLELNADILGTDKINSGAHKATLRIGQDGISTSATTNLKCSLLVLENELNAELGLSGASMKLTTNGRFREHNAKFSLD +GKAALTELSLGSAYQAMILGVDSKNIFNFKVSQEGLKLSNDMMGSYAEMKFDHTNSLNIAGLSLDFSSKLDNIYSSDKFYKQTVNLQLQPYSLVTTLNSD +LKYNALDLTNNGKLRLEPLKLHVAGNLKGAYQNNEIKHIYAISSAALSASYKADTVAKVQGVEFSHRLNTDIAGLASAIDMSTNYNSDSLHFSNVFRSVM +APFTMTIDAHTNGNGKLALWGEHTGQLYSKFLLKAEPLAFTFSHDYKGSTSHHLVSRKSISAALEHKVSALLTPAEQTGTWKLKTQFNNNEYSQDLDAYN +TKDKIGVELTGRTLADLTLLDSPIKVPLLLSEPINIIDALEMRDAVEKPQEFTIVAFVKYDKNQDVHSINLPFFETLQEYFERNRQTIIVVLENVQRNLK +HINIDQFVRKYRAALGKLPQQANDYLNSFNWERQVSHAKEKLTALTKKYRITENDIQIALDDAKINFNEKLSQLQTYMIQFDQYIKDSYDLHDLKIAIAN +IIDEIIEKLKSLDEHYHIRVNLVKTIHDLHLFIENIDFNKSGSSTASWIQNVDTKYQIRIQIQEKLQQLKRHIQNIDIQHLAGKLKQHIEAIDVRVLLDQ +LGTTISFERINDILEHVKHFVINLIGDFEVAEKINAFRAKVHELIERYEVDQQIQVLMDKLVELAHQYKLKETIQKLSNVLQQVKIKDYFEKLVGFIDDA +VKKLNELSFKTFIEDVNKFLDMLIKKLKSFDYHQFVDETNDKIREVTQRLNGEIQALELPQKAEALKLFLEETKATVAVYLESLQDTKITLIINWLQEAL +SSASLAHMKAKFRETLEDTRDRMYQMDIQQELQRYLSLVGQVYSTLVTYISDWWTLAAKNLTDFAEQYSIQDWAKRMKALVEQGFTVPEIKTILGTMPAF +EVSLQALQKATFQTPDFIVPLTDLRIPSVQINFKDLKNIKIPSRFSTPEFTILNTFHIPSFTIDFVEMKVKIIRTIDQMLNSELQWPVPDIYLRDLKVED +IPLARITLPDFRLPEIAIPEFIIPTLNLNDFQVPDLHIPEFQLPHISHTIEVPTFGKLYSILKIQSPLFTLDANADIGNGTTSANEAGIAASITAKGESK +LEVLNFDFQANAQLSNPKINPLALKESVKFSSKYLRTEHGSEMLFFGNAIEGKSNTVASLHTEKNTLELSNGVIVKINNQLTLDSNTKYFHKLNIPKLDF +SSQADLRNEIKTLLKAGHIAWTSSGKGSWKWACPRFSDEGTHESQISFTIEGPLTSFGLSNKINSKHLRVNQNLVYESGSLNFSKLEIQSQVDSQHVGHS +VLTAKGMALFGEGKAEFTGRHDAHLNGKVIGTLKNSLFFSAQPFEITASTNNEGNLKVRFPLRLTGKIDFLNNYALFLSPSAQQASWQVSARFNQYKYNQ +NFSAGNNENIMEAHVGINGEANLDFLNIPLTIPEMRLPYTIITTPPLKDFSLWEKTGLKEFLKTTKQSFDLSVKAQYKKNKHRHSITNPLAVLCEFISQS +IKSFDRHFEKNRNNALDFVTKSYNETKIKFDKYKAEKSHDELPRTFQIPGYTVPVVNVEVSPFTIEMSAFGYVFPKAVSMPSFSILGSDVRVPSYTLILP +SLELPVLHVPRNLKLSLPDFKELCTISHIFIPAMGNITYDFSFKSSVITLNTNAELFNQSDIVAHLLSSSSSVIDALQYKLEGTTRLTRKRGLKLATALS +LSNKFVEGSHNSTVSLTTKNMEVSVATTTKAQIPILRMNFKQELNGNTKSKPTVSSSMEFKYDFNSSMLYSTAKGAVDHKLSLESLTSYFSIESSTKGDV +KGSVLSREYSGTIASEANTYLNSKSTRSSVKLQGTSKIDDIWNLEVKENFAGEATLQRIYSLWEHSTKNHLQLEGLFFTNGEHTSKATLELSPWQMSALV +QVHASQPSSFHDFPDLGQEVALNANTKNQKIRWKNEVRIHSGSFQSQVELSNDQEKAHLDIAGSLEGHLRFLKNIILPVYDKSLWDFLKLDVTTSIGRRQ +HLRVSTAFVYTKNPNGYSFSIPVKVLADKFIIPGLKLNDLNSVLVMPTFHVPFTDLQVPSCKLDFREIQIYKKLRTSSFALNLPTLPEVKFPEVDVLTKY +SQPEDSLIPFFEITVPESQLTVSQFTLPKSVSDGIAALDLNAVANKIADFELPTIIVPEQTIEIPSIKFSVPAGIVIPSFQALTARFEVDSPVYNATWSA +SLKNKADYVETVLDSTCSSTVQFLEYELNVLGTHKIEDGTLASKTKGTFAHRDFSAEYEEDGKYEGLQEWEGKAHLNIKSPAFTDLHLRYQKDKKGISTS +AASPAVGTVGMDMDEDDDFSKWNFYYSPQSSPDKKLTIFKTELRVRESDEETQIKVNWEEEAASGLLTSLKDNVPKATGVLYDYVNKYHWEHTGLTLREV +SSKLRRNLQNNAEWVYQGAIRQIDDIDVRFQKAASGTTGTYQEWKDKAQNLYQELLTQEGQASFQGLKDNVFDGLVRVTQEFHMKVKHLIDSLIDFLNFP +RFQFPGKPGIYTREELCTMFIREVGTVLSQVYSKVHNGSEILFSYFQDLVITLPFELRKHKLIDVISMYRELLKDLSKEAQEVFKAIQSLKTTEVLRNLQ +DLLQFIFQLIEDNIKQLKEMKFTYLINYIQDEINTIFSDYIPYVFKLLKENLCLNLHKFNEFIQNELQEASQELQQIHQYIMALREEYFDPSIVGWTVKY +YELEEKIVSLIKNLLVALKDFHSEYIVSASNFTSQLSSQVEQFLHRNIQEYLSILTDPDGKGKEKIAELSATAQEIIKSQAIATKKIISDYHQQFRYKLQ +DFSDQLSDYYEKFIAESKRLIDLSIQNYHTFLIYITELLKKLQSTTVMNPYMKLAPGELTIIL* +>line3493 NM_000384 c.35_43del p.L12_L14del protein-altering (position 12-14 changed from LAL to ) +MDPPRPALLALPALLLLLLAGARAEEEMLENVSLVCPKDATRFKHLRKYTYNYEAESSSGVPGTADSRSATRINCKVELEVPQLCSFILKTSQCTLKEVY +GFNPEGKALLKKTKNSEEFAAAMSRYELKLAIPEGKQVFLYPEKDEPTYILNIKRGIISALLVPPETEEAKQVLFLDTVYGNCSTHFTVKTRKGNVATEI +STERDLGQCDRFKPIRTGISPLALIKGMTRPLSTLISSSQSCQYTLDAKRKHVAEAICKEQHLFLPFSYKNKYGMVAQVTQTLKLEDTPKINSRFFGEGT +KKMGLAFESTKSTSPPKQAEAVLKTLQELKKLTISEQNIQRANLFNKLVTELRGLSDEAVTSLLPQLIEVSSPITLQALVQCGQPQCSTHILQWLKRVHA +NPLLIDVVTYLVALIPEPSAQQLREIFNMARDQRSRATLYALSHAVNNYHKTNPTGTQELLDIANYLMEQIQDDCTGDEDYTYLILRVIGNMGQTMEQLT +PELKSSILKCVQSTKPSLMIQKAAIQALRKMEPKDKDQEVLLQTFLDDASPGDKRLAAYLMLMRSPSQADINKIVQILPWEQNEQVKNFVASHIANILNS +EELDIQDLKKLVKEALKESQLPTVMDFRKFSRNYQLYKSVSLPSLDPASAKIEGNLIFDPNNYLPKESMLKTTLTAFGFASADLIEIGLEGKGFEPTLEA +LFGKQGFFPDSVNKALYWVNGQVPDGVSKVLVDHFGYTKDDKHEQDMVNGIMLSVEKLIKDLKSKEVPEARAYLRILGEELGFASLHDLQLLGKLLLMGA +RTLQGIPQMIGEVIRKGSKNDFFLHYIFMENAFELPTGAGLQLQISSSGVIAPGAKAGVKLEVANMQAELVAKPSVSVEFVTNMGIIIPDFARSGVQMNT +NFFHESGLEAHVALKAGKLKFIIPSPKRPVKLLSGGNTLHLVSTTKTEVIPPLIENRQSWSVCKQVFPGLNYCTSGAYSNASSTDSASYYPLTGDTRLEL +ELRPTGEIEQYSVSATYELQREDRALVDTLKFVTQAEGAKQTEATMTFKYNRQSMTLSSEVQIPDFDVDLGTILRVNDESTEGKTSYRLTLDIQNKKITE +VALMGHLSCDTKEERKIKGVISIPRLQAEARSEILAHWSPAKLLLQMDSSATAYGSTVSKRVAWHYDEEKIEFEWNTGTNVDTKKMTSNFPVDLSDYPKS +LHMYANRLLDHRVPQTDMTFRHVGSKLIVAMSSWLQKASGSLPYTQTLQDHLNSLKEFNLQNMGLPDFHIPENLFLKSDGRVKYTLNKNSLKIEIPLPFG +GKSSRDLKMLETVRTPALHFKSVGFHLPSREFQVPTFTIPKLYQLQVPLLGVLDLSTNVYSNLYNWSASYSGGNTSTDHFSLRARYHMKADSVVDLLSYN +VQGSGETTYDHKNTFTLSYDGSLRHKFLDSNIKFSHVEKLGNNPVSKGLLIFDASSSWGPQMSASVHLDSKKKQHLFVKEVKIDGQFRVSSFYAKGTYGL +SCQRDPNTGRLNGESNLRFNSSYLQGTNQITGRYEDGTLSLTSTSDLQSGIIKNTASLKYENYELTLKSDTNGKYKNFATSNKMDMTFSKQNALLRSEYQ +ADYESLRFFSLLSGSLNSHGLELNADILGTDKINSGAHKATLRIGQDGISTSATTNLKCSLLVLENELNAELGLSGASMKLTTNGRFREHNAKFSLDGKA +ALTELSLGSAYQAMILGVDSKNIFNFKVSQEGLKLSNDMMGSYAEMKFDHTNSLNIAGLSLDFSSKLDNIYSSDKFYKQTVNLQLQPYSLVTTLNSDLKY +NALDLTNNGKLRLEPLKLHVAGNLKGAYQNNEIKHIYAISSAALSASYKADTVAKVQGVEFSHRLNTDIAGLASAIDMSTNYNSDSLHFSNVFRSVMAPF +TMTIDAHTNGNGKLALWGEHTGQLYSKFLLKAEPLAFTFSHDYKGSTSHHLVSRKSISAALEHKVSALLTPAEQTGTWKLKTQFNNNEYSQDLDAYNTKD +KIGVELTGRTLADLTLLDSPIKVPLLLSEPINIIDALEMRDAVEKPQEFTIVAFVKYDKNQDVHSINLPFFETLQEYFERNRQTIIVVLENVQRNLKHIN +IDQFVRKYRAALGKLPQQANDYLNSFNWERQVSHAKEKLTALTKKYRITENDIQIALDDAKINFNEKLSQLQTYMIQFDQYIKDSYDLHDLKIAIANIID +EIIEKLKSLDEHYHIRVNLVKTIHDLHLFIENIDFNKSGSSTASWIQNVDTKYQIRIQIQEKLQQLKRHIQNIDIQHLAGKLKQHIEAIDVRVLLDQLGT +TISFERINDILEHVKHFVINLIGDFEVAEKINAFRAKVHELIERYEVDQQIQVLMDKLVELAHQYKLKETIQKLSNVLQQVKIKDYFEKLVGFIDDAVKK +LNELSFKTFIEDVNKFLDMLIKKLKSFDYHQFVDETNDKIREVTQRLNGEIQALELPQKAEALKLFLEETKATVAVYLESLQDTKITLIINWLQEALSSA +SLAHMKAKFRETLEDTRDRMYQMDIQQELQRYLSLVGQVYSTLVTYISDWWTLAAKNLTDFAEQYSIQDWAKRMKALVEQGFTVPEIKTILGTMPAFEVS +LQALQKATFQTPDFIVPLTDLRIPSVQINFKDLKNIKIPSRFSTPEFTILNTFHIPSFTIDFVEMKVKIIRTIDQMLNSELQWPVPDIYLRDLKVEDIPL +ARITLPDFRLPEIAIPEFIIPTLNLNDFQVPDLHIPEFQLPHISHTIEVPTFGKLYSILKIQSPLFTLDANADIGNGTTSANEAGIAASITAKGESKLEV +LNFDFQANAQLSNPKINPLALKESVKFSSKYLRTEHGSEMLFFGNAIEGKSNTVASLHTEKNTLELSNGVIVKINNQLTLDSNTKYFHKLNIPKLDFSSQ +ADLRNEIKTLLKAGHIAWTSSGKGSWKWACPRFSDEGTHESQISFTIEGPLTSFGLSNKINSKHLRVNQNLVYESGSLNFSKLEIQSQVDSQHVGHSVLT +AKGMALFGEGKAEFTGRHDAHLNGKVIGTLKNSLFFSAQPFEITASTNNEGNLKVRFPLRLTGKIDFLNNYALFLSPSAQQASWQVSARFNQYKYNQNFS +AGNNENIMEAHVGINGEANLDFLNIPLTIPEMRLPYTIITTPPLKDFSLWEKTGLKEFLKTTKQSFDLSVKAQYKKNKHRHSITNPLAVLCEFISQSIKS +FDRHFEKNRNNALDFVTKSYNETKIKFDKYKAEKSHDELPRTFQIPGYTVPVVNVEVSPFTIEMSAFGYVFPKAVSMPSFSILGSDVRVPSYTLILPSLE +LPVLHVPRNLKLSLPDFKELCTISHIFIPAMGNITYDFSFKSSVITLNTNAELFNQSDIVAHLLSSSSSVIDALQYKLEGTTRLTRKRGLKLATALSLSN +KFVEGSHNSTVSLTTKNMEVSVATTTKAQIPILRMNFKQELNGNTKSKPTVSSSMEFKYDFNSSMLYSTAKGAVDHKLSLESLTSYFSIESSTKGDVKGS +VLSREYSGTIASEANTYLNSKSTRSSVKLQGTSKIDDIWNLEVKENFAGEATLQRIYSLWEHSTKNHLQLEGLFFTNGEHTSKATLELSPWQMSALVQVH +ASQPSSFHDFPDLGQEVALNANTKNQKIRWKNEVRIHSGSFQSQVELSNDQEKAHLDIAGSLEGHLRFLKNIILPVYDKSLWDFLKLDVTTSIGRRQHLR +VSTAFVYTKNPNGYSFSIPVKVLADKFIIPGLKLNDLNSVLVMPTFHVPFTDLQVPSCKLDFREIQIYKKLRTSSFALNLPTLPEVKFPEVDVLTKYSQP +EDSLIPFFEITVPESQLTVSQFTLPKSVSDGIAALDLNAVANKIADFELPTIIVPEQTIEIPSIKFSVPAGIVIPSFQALTARFEVDSPVYNATWSASLK +NKADYVETVLDSTCSSTVQFLEYELNVLGTHKIEDGTLASKTKGTFAHRDFSAEYEEDGKYEGLQEWEGKAHLNIKSPAFTDLHLRYQKDKKGISTSAAS +PAVGTVGMDMDEDDDFSKWNFYYSPQSSPDKKLTIFKTELRVRESDEETQIKVNWEEEAASGLLTSLKDNVPKATGVLYDYVNKYHWEHTGLTLREVSSK +LRRNLQNNAEWVYQGAIRQIDDIDVRFQKAASGTTGTYQEWKDKAQNLYQELLTQEGQASFQGLKDNVFDGLVRVTQEFHMKVKHLIDSLIDFLNFPRFQ +FPGKPGIYTREELCTMFIREVGTVLSQVYSKVHNGSEILFSYFQDLVITLPFELRKHKLIDVISMYRELLKDLSKEAQEVFKAIQSLKTTEVLRNLQDLL +QFIFQLIEDNIKQLKEMKFTYLINYIQDEINTIFSDYIPYVFKLLKENLCLNLHKFNEFIQNELQEASQELQQIHQYIMALREEYFDPSIVGWTVKYYEL +EEKIVSLIKNLLVALKDFHSEYIVSASNFTSQLSSQVEQFLHRNIQEYLSILTDPDGKGKEKIAELSATAQEIIKSQAIATKKIISDYHQQFRYKLQDFS +DQLSDYYEKFIAESKRLIDLSIQNYHTFLIYITELLKKLQSTTVMNPYMKLAPGELTIIL* +>line3535 NM_000183 WILDTYPE +MTILTYPFKNLPTASKWALRFSIRPLSCSSQLRAAPAVQTKTKKTLAKPNIRNVVVVDGVRTPFLLSGTSYKDLMPHDLARAALTGLLHRTSVPKEVVDY +IIFGTVIQEVKTSNVAREAALGAGFSDKTPAHTVTMACISANQAMTTGVGLIASGQCDVIVAGGVELMSDVPIRHSRKMRKLMLDLNKAKSMGQRLSLIS +KFRFNFLAPELPAVSEFSTSETMGHSADRLAAAFAVSRLEQDEYALRSHSLAKKAQDEGLLSDVVPFKVPGKDTVTKDNGIRPSSLEQMAKLKPAFIKPY +GTVTAANSSFLTDGASAMLIMAEEKALAMGYKPKAYLRDFMYVSQDPKDQLLLGPTYATPKVLEKAGLTMNDIDAFEFHEAFSGQILANFKAMDSDWFAE +NYMGRKTKVGLPPLEKFNNWGGSLSLGHPFGATGCRLVMAAANRLRKEGGQYGLVAACAAGGQGHAMIVEAYPK* +>line3535 NM_000183 c.3_4insACT p.T2_I3insT protein-altering (position 2-3 has insertion T) +MTTILTYPFKNLPTASKWALRFSIRPLSCSSQLRAAPAVQTKTKKTLAKPNIRNVVVVDGVRTPFLLSGTSYKDLMPHDLARAALTGLLHRTSVPKEVVD +YIIFGTVIQEVKTSNVAREAALGAGFSDKTPAHTVTMACISANQAMTTGVGLIASGQCDVIVAGGVELMSDVPIRHSRKMRKLMLDLNKAKSMGQRLSLI +SKFRFNFLAPELPAVSEFSTSETMGHSADRLAAAFAVSRLEQDEYALRSHSLAKKAQDEGLLSDVVPFKVPGKDTVTKDNGIRPSSLEQMAKLKPAFIKP +YGTVTAANSSFLTDGASAMLIMAEEKALAMGYKPKAYLRDFMYVSQDPKDQLLLGPTYATPKVLEKAGLTMNDIDAFEFHEAFSGQILANFKAMDSDWFA +ENYMGRKTKVGLPPLEKFNNWGGSLSLGHPFGATGCRLVMAAANRLRKEGGQYGLVAACAAGGQGHAMIVEAYPK* +>line3548 NM_004802 WILDTYPE +MIKTEKSYPERRLRGVLEELSCGCCRFLSLADKDQGHSSRTRLDRERLKSCMRELENMGQQARMLRAQVKRHTVRDKLRLCQNFLQKLRFLADEPQHSIP +DIFIWMMSNNKRVAYARVPSKDLLFSIVEEETGKDCAKVKTLFLKLPGKRGFGSAGWTVQAKVELYLWLGLSKQRKEFLCGLPCGFQEVKAAQGLGLHAF +PPVSLVYTKKQAFQLRAHMYQARSLFAADSSGLSDPFARVFFINQSQCTEVLNETLCPTWDQMLVFDNLELYGEAHELRDDPPIIVIEIYDQDSMGKADF +MGRTFAKPLVKMADEAYCPPRFPPQLEYYQIYRGNATAGDLLAAFELLQIGPAGKADLPPINGPVDVDRGPIMPVPMGIRPVLSKYRVEVLFWGLRDLKR +VNLAQVDRPRVDIECAGKGVQSSLIHNYKKNPNFNTLVKWFEVDLPENELLHPPLNIRVVDCRAFGRYTLVGSHAVSSLRRFIYRPPDRSAPSWNTTGEV +VVTMEPEVPIKKLETMVKLDATSEAVVKVDVAEEEKEKKKKKKGTAEEPEEEEPDESMLDWWSKYFASIDTMKEQLRQQEPSGIDLEEKEEVDNTEGLKG +SMKGKEKARAAKEEKKKKTQSSGSGQGSEAPEKKKPKIDELKVYPKELESEFDNFEDWLHTFNLLRGKTGDDEDGSTEEERIVGRFKGSLCVYKVPLPED +VSREAGYDSTYGMFQGIPSNDPINVLVRVYVVRATDLHPADINGKADPYIAIRLGKTDIRDKENYISKQLNPVFGKSFDIEASFPMESMLTVAVYDWDLV +GTDDLIGETKIDLENRFYSKHRATCGIAQTYSTHGYNIWRDPMKPSQILTRLCKDGKVDGPHFGPPGRVKVANRVFTGPSEIEDENGQRKPTDEHVALLA +LRHWEDIPRAGCRLVPEHVETRPLLNPDKPGIEQGRLELWVDMFPMDMPAPGTPLDISPRKPKKYELRVIIWNTDEVVLEDDDFFTGEKSSDIFVRGWLK +GQQEDKQDTDVHYHSLTGEGNFNWRYLFPFDYLAAEEKIVISKKESMFSWDETEYKIPARLTLQIWDADHFSADDFLGAIELDLNRFPRGAKTAKQCTME +MATGEVDVPLVSIFKQKRVKGWWPLLARNENDEFELTGKVEAELHLLTAEEAEKNPVGLARNEPDPLEKPNRPDTSFIWFLNPLKSARYFLWHTYRWLLL +KLLLLLLLLLLLALFLYSVPGYLVKKILGA* +>line3548 NM_004802 c.1627_1629del p.K543del protein-altering (position 543 changed from K to ) +MIKTEKSYPERRLRGVLEELSCGCCRFLSLADKDQGHSSRTRLDRERLKSCMRELENMGQQARMLRAQVKRHTVRDKLRLCQNFLQKLRFLADEPQHSIP +DIFIWMMSNNKRVAYARVPSKDLLFSIVEEETGKDCAKVKTLFLKLPGKRGFGSAGWTVQAKVELYLWLGLSKQRKEFLCGLPCGFQEVKAAQGLGLHAF +PPVSLVYTKKQAFQLRAHMYQARSLFAADSSGLSDPFARVFFINQSQCTEVLNETLCPTWDQMLVFDNLELYGEAHELRDDPPIIVIEIYDQDSMGKADF +MGRTFAKPLVKMADEAYCPPRFPPQLEYYQIYRGNATAGDLLAAFELLQIGPAGKADLPPINGPVDVDRGPIMPVPMGIRPVLSKYRVEVLFWGLRDLKR +VNLAQVDRPRVDIECAGKGVQSSLIHNYKKNPNFNTLVKWFEVDLPENELLHPPLNIRVVDCRAFGRYTLVGSHAVSSLRRFIYRPPDRSAPSWNTTGEV +VVTMEPEVPIKKLETMVKLDATSEAVVKVDVAEEEKEKKKKKGTAEEPEEEEPDESMLDWWSKYFASIDTMKEQLRQQEPSGIDLEEKEEVDNTEGLKGS +MKGKEKARAAKEEKKKKTQSSGSGQGSEAPEKKKPKIDELKVYPKELESEFDNFEDWLHTFNLLRGKTGDDEDGSTEEERIVGRFKGSLCVYKVPLPEDV +SREAGYDSTYGMFQGIPSNDPINVLVRVYVVRATDLHPADINGKADPYIAIRLGKTDIRDKENYISKQLNPVFGKSFDIEASFPMESMLTVAVYDWDLVG +TDDLIGETKIDLENRFYSKHRATCGIAQTYSTHGYNIWRDPMKPSQILTRLCKDGKVDGPHFGPPGRVKVANRVFTGPSEIEDENGQRKPTDEHVALLAL +RHWEDIPRAGCRLVPEHVETRPLLNPDKPGIEQGRLELWVDMFPMDMPAPGTPLDISPRKPKKYELRVIIWNTDEVVLEDDDFFTGEKSSDIFVRGWLKG +QQEDKQDTDVHYHSLTGEGNFNWRYLFPFDYLAAEEKIVISKKESMFSWDETEYKIPARLTLQIWDADHFSADDFLGAIELDLNRFPRGAKTAKQCTMEM +ATGEVDVPLVSIFKQKRVKGWWPLLARNENDEFELTGKVEAELHLLTAEEAEKNPVGLARNEPDPLEKPNRPDTSFIWFLNPLKSARYFLWHTYRWLLLK +LLLLLLLLLLLALFLYSVPGYLVKKILGA* +>line3570 NM_001142683 WILDTYPE +MGSRGQGSHSKKTRSMPVILSPQRTGSGATGGPAARAYSVAEAVKQFRAGPAGTGAGCSLQGCWAAPRPFEHRTNKLRELSTLAHCSRELQTQVPDASAH +SLAVTLSELHSCRDLQDECLDSRFAEGPRRLLPPYHSLINNFVKPEKLTKVETRLKEKIVAEMTDLNKHIKQAQTQRKQLLEESRELHREKLLVQAENRF +FLEYLTNKTEEYTEQPEKVWNSYLQKSGEIERRRQESASRYAEQISVLKTALLQKENIQSSLKRKLQAMRDIAILKEKQEKEIQTLQEETKKVQAETASK +TREVQAQLLQEKRLLEKQLSEPDRRLLGKRKRRELNMKAQALKLAAKRFIFEYSCGINRENQQFKKELLQLIEQAQKLTATQSHLENRKQQLQQEQWYLE +SLIQARQRLQGSHNQCLNRQDVPKTTPSLPQGTKSRINPK* +>line3570 NM_001142683 c.1223_1224del p.R408Tfs*5 protein-altering (position 408-440 changed from RLQGSHNQCLNRQDVPKTTPSLPQGTKSRINPK to TARKS) +MGSRGQGSHSKKTRSMPVILSPQRTGSGATGGPAARAYSVAEAVKQFRAGPAGTGAGCSLQGCWAAPRPFEHRTNKLRELSTLAHCSRELQTQVPDASAH +SLAVTLSELHSCRDLQDECLDSRFAEGPRRLLPPYHSLINNFVKPEKLTKVETRLKEKIVAEMTDLNKHIKQAQTQRKQLLEESRELHREKLLVQAENRF +FLEYLTNKTEEYTEQPEKVWNSYLQKSGEIERRRQESASRYAEQISVLKTALLQKENIQSSLKRKLQAMRDIAILKEKQEKEIQTLQEETKKVQAETASK +TREVQAQLLQEKRLLEKQLSEPDRRLLGKRKRRELNMKAQALKLAAKRFIFEYSCGINRENQQFKKELLQLIEQAQKLTATQSHLENRKQQLQQEQWYLE +SLIQARQTARKS* +>line3767 NM_148962 WILDTYPE +MLCHRGGQLIVPIIPLCPEHSCRGRRLQNLLSGPWPKQPMELHNLSSPSPSLSSSVLPPSFSPSPSSAPSAFTTVGGSSGGPCHPTSSSLVSAFLAPILA +LEFVLGLVGNSLALFIFCIHTRPWTSNTVFLVSLVAADFLLISNLPLRVDYYLLHETWRFGAAACKVNLFMLSTNRTASVVFLTAIALNRYLKVVQPHHV +LSRASVGAAARVAGGLWVGILLLNGHLLLSTFSGPSCLSYRVGTKPSASLRWHQALYLLEFFLPLALILFAIVSIGLTIRNRGLGGQAGPQRAMRVLAMV +VAVYTICFLPSIIFGMASMVAFWLSACRSLDLCTQLFHGSLAFTYLNSVLDPVLYCFSSPNFLHQSRALLGLTRGRQGPVSDESSYQPSRQWRYREASRK +AEAIGKLKVQGEVSLEKEGSSQG* +>line3767 NM_148962 c.757delC p.H253Tfs*20 protein-altering (position 253-423 changed from HQALYLLEFFLPLALILFAIVSIGLTIRNRGLGGQAGPQRAMRVLAMVVAVYTICFLPSIIFGMASMVAFWLSACRSLDLCTQLFHGSLAFTYLNSVLDPVLYCFSSPNFLHQSRALLGLTRGRQGPVSDESSYQPSRQWRYREASRKAEAIGKLKVQGEVSLEKEGSSQG to TRHCTCWSSSCHWRSSSLLL) +MLCHRGGQLIVPIIPLCPEHSCRGRRLQNLLSGPWPKQPMELHNLSSPSPSLSSSVLPPSFSPSPSSAPSAFTTVGGSSGGPCHPTSSSLVSAFLAPILA +LEFVLGLVGNSLALFIFCIHTRPWTSNTVFLVSLVAADFLLISNLPLRVDYYLLHETWRFGAAACKVNLFMLSTNRTASVVFLTAIALNRYLKVVQPHHV +LSRASVGAAARVAGGLWVGILLLNGHLLLSTFSGPSCLSYRVGTKPSASLRWTRHCTCWSSSCHWRSSSLLL* +>line3860 NM_000233 WILDTYPE +MKQRFSALQLLKLLLLLQPPLPRALREALCPEPCNCVPDGALRCPGPTAGLTRLSLAYLPVKVIPSQAFRGLNEVIKIEISQIDSLERIEANAFDNLLNL +SEILIQNTKNLRYIEPGAFINLPRLKYLSICNTGIRKFPDVTKVFSSESNFILEICDNLHITTIPGNAFQGMNNESVTLKLYGNGFEEVQSHAFNGTTLT +SLELKENVHLEKMHNGAFRGATGPKTLDISSTKLQALPSYGLESIQRLIATSSYSLKKLPSRETFVNLLEATLTYPSHCCAFRNLPTKEQNFSHSISENF +SKQCESTVRKVNNKTLYSSMLAESELSGWDYEYGFCLPKTPRCAPEPDAFNPCEDIMGYDFLRVLIWLINILAIMGNMTVLFVLLTSRYKLTVPRFLMCN +LSFADFCMGLYLLLIASVDSQTKGQYYNHAIDWQTGSGCSTAGFFTVFASELSVYTLTVITLERWHTITYAIHLDQKLRLRHAILIMLGGWLFSSLIAML +PLVGVSNYMKVSICFPMDVETTLSQVYILTILILNVVAFFIICACYIKIYFAVRNPELMATNKDTKIAKKMAILIFTDFTCMAPISFFAISAAFKVPLIT +VTNSKVLLVLFYPINSCANPFLYAIFTKTFQRDFFLLLSKFGCCKRRAELYRRKDFSAYTSNCKNGFTGSNKPSQSTLKLSTLHCQGTALLDKTRYTEC* + +>line3860 NM_000233 c.55_56insTGCAGC p.Q18_P19insLQ protein-altering (position 18-19 has insertion LQ) +MKQRFSALQLLKLLLLLQLQPPLPRALREALCPEPCNCVPDGALRCPGPTAGLTRLSLAYLPVKVIPSQAFRGLNEVIKIEISQIDSLERIEANAFDNLL +NLSEILIQNTKNLRYIEPGAFINLPRLKYLSICNTGIRKFPDVTKVFSSESNFILEICDNLHITTIPGNAFQGMNNESVTLKLYGNGFEEVQSHAFNGTT +LTSLELKENVHLEKMHNGAFRGATGPKTLDISSTKLQALPSYGLESIQRLIATSSYSLKKLPSRETFVNLLEATLTYPSHCCAFRNLPTKEQNFSHSISE +NFSKQCESTVRKVNNKTLYSSMLAESELSGWDYEYGFCLPKTPRCAPEPDAFNPCEDIMGYDFLRVLIWLINILAIMGNMTVLFVLLTSRYKLTVPRFLM +CNLSFADFCMGLYLLLIASVDSQTKGQYYNHAIDWQTGSGCSTAGFFTVFASELSVYTLTVITLERWHTITYAIHLDQKLRLRHAILIMLGGWLFSSLIA +MLPLVGVSNYMKVSICFPMDVETTLSQVYILTILILNVVAFFIICACYIKIYFAVRNPELMATNKDTKIAKKMAILIFTDFTCMAPISFFAISAAFKVPL +ITVTNSKVLLVLFYPINSCANPFLYAIFTKTFQRDFFLLLSKFGCCKRRAELYRRKDFSAYTSNCKNGFTGSNKPSQSTLKLSTLHCQGTALLDKTRYTE +C* +>line4065 NM_001130985 WILDTYPE +MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSA +SFNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVAGGGQSRAETWSLLSDSTMDTRYSGKKWPAPTDTGGEEDTEDQGLTGD +EAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFF +NLFDSPGELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNL +LRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDR +LTHNDIVATTYLSMSKISAPGGEIEVDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILR +VEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIA +DRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRAL +AEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETY +ENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLP +KDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLE +YRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFL +HQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKP +AIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDI +CTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFF +ASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRI +YIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQ +TYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGK +LQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQ +VCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILA +GKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS* +>line4065 NM_001130985 c.3235_3236insAGGCGG p.E1083_G1084insAE protein-altering (position 1083-1084 has insertion AE) +MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSA +SFNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVAGGGQSRAETWSLLSDSTMDTRYSGKKWPAPTDTGGEEDTEDQGLTGD +EAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFF +NLFDSPGELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNL +LRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDR +LTHNDIVATTYLSMSKISAPGGEIEVDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILR +VEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIA +DRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRAL +AEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETY +ENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLP +KDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEAEGEGWEYASLFGWKFH +LEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVS +FLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFELIQRE +KPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNF +DICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSK +FFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLV +RIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGL +PQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQ +GKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPA +EQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKI +LAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS +* +>line4569 NM_001329914 WILDTYPE +MVAACRSVAGLLPRRRRCFPARAPLLRVALCLLCWTPAAVRAVPELGLWLETVNDKSGPLIFRKTMFNSTDIKLSVKSFHCSGPVKFTIVWHLKYHTCHN +EHSNLEELFQKHKLSVDEDFCHYLKNDNCWTTKNENLDCNSDSQVFPSLNNKELINIRNVSNQERSMDVVARTQKDGFHIFIVSIKTENTDASWNLNVSL +SMIGPHGYISASDWPLMIFYMVMCIVYILYGILWLTWSACYWKDILRIQFWIAAVIFLGMLEKAVFYSEYQNISNTGLSTQGLLIFAELISAIKRTLARL +LVIIVSLGYGIVKPRLGTVMHRVIGLGLLYLIFAAVEGVMRVIGVSDSDLVLLASLPLSLLDSGLCWWIFISLAQTMKTLRLRKNTVKFSLYRHFKNTLI +FAVLASIVFMGWTTKTFRIAKCQSDWMERWVDDAFWSFLFSLILIVIMFLWRPSANNQRYAFMPLIDDSDDEIEEFMVTSENLTEGIKLRASKSVSNGTA +KPATSENFDEDLKWVEENIPSSFTDVALPVLVDSDEEIMTRSEMAEKMFSSEKIM* +>line4569 NM_001329914 c.498_500del p.M167del protein-altering (position 167 changed from M to ) +MVAACRSVAGLLPRRRRCFPARAPLLRVALCLLCWTPAAVRAVPELGLWLETVNDKSGPLIFRKTMFNSTDIKLSVKSFHCSGPVKFTIVWHLKYHTCHN +EHSNLEELFQKHKLSVDEDFCHYLKNDNCWTTKNENLDCNSDSQVFPSLNNKELINIRNVSNQERSDVVARTQKDGFHIFIVSIKTENTDASWNLNVSLS +MIGPHGYISASDWPLMIFYMVMCIVYILYGILWLTWSACYWKDILRIQFWIAAVIFLGMLEKAVFYSEYQNISNTGLSTQGLLIFAELISAIKRTLARLL +VIIVSLGYGIVKPRLGTVMHRVIGLGLLYLIFAAVEGVMRVIGVSDSDLVLLASLPLSLLDSGLCWWIFISLAQTMKTLRLRKNTVKFSLYRHFKNTLIF +AVLASIVFMGWTTKTFRIAKCQSDWMERWVDDAFWSFLFSLILIVIMFLWRPSANNQRYAFMPLIDDSDDEIEEFMVTSENLTEGIKLRASKSVSNGTAK +PATSENFDEDLKWVEENIPSSFTDVALPVLVDSDEEIMTRSEMAEKMFSSEKIM* +>line4964 NM_001304449 WILDTYPE +MIKFQERVTFKDIAVIFTKEELAVLDKAQINLYQDVMLENFRNFISVDGIKNNILNLQGKGLIYLSQEELHCWKIWKQRIRDLSVSQDYIMNLQEQCSPH +LEDVSLCEEWAGMSLQISENENYVVNAIIKNQDITAWQSLTQVLTPESWRKANIMTEPQKSQGRYKGIYVEEKLYRHARHDESLNWTSRDHHESQECKGE +DPGRHPNCGKNLGMKSTVEQHHAVHVLPQPFTCNNCGVAFADDTDPRVHHSTHLGEKSYKCDQYGKNLSQSQYLIVHCKTHSGETPYEFHEWPTGCKQSS +DLPRCQKVPSGDNPYKCKECGKGFRCNSSLHNHHRVHTGEMPYKCHVCGKAFGFRSLPCIHQGVHTGKKPYKCEDCGKGFEQSSNLLIHQRVHTGEKPYK +SSECGKCFSSSSVLQVHWRFHTGEKPYRCGECGKGFSQSTHLHIHQRVHTGEKQYNAMCVERILGIVLFFTLIREFTLQKNHINAKCVESALVTVHIFTS +IKAITQERNHINVMSVVKASVGIQIFNVHLRVHRGQRPCKCKACGKGFSRNSHLLAQQRVRIDKTQYTHCEHGKDLLTHQRLHEQRETL* +>line4964 NM_001304449 c.940delC p.Y315Tfs*151 protein-altering (position 315-589 changed from YKCKECGKGFRCNSSLHNHHRVHTGEMPYKCHVCGKAFGFRSLPCIHQGVHTGKKPYKCEDCGKGFEQSSNLLIHQRVHTGEKPYKSSECGKCFSSSSVLQVHWRFHTGEKPYRCGECGKGFSQSTHLHIHQRVHTGEKQYNAMCVERILGIVLFFTLIREFTLQKNHINAKCVESALVTVHIFTSIKAITQERNHINVMSVVKASVGIQIFNVHLRVHRGQRPCKCKACGKGFSRNSHLLAQQRVRIDKTQYTHCEHGKDLLTHQRLHEQRETL to TNVKNVARASGATPPFTTIIESTQGRCPTNATYVGKRLDLGHFLVFIREYTQGKSPTNVKIVGRALNRAPTFLSIRESTLERSPTNPVSVASALVQAPFFKSTGGFTQGRNLIGVVSVERASAKVHTFTFTRESTQGRNNTMQCVWKGFWV) +MIKFQERVTFKDIAVIFTKEELAVLDKAQINLYQDVMLENFRNFISVDGIKNNILNLQGKGLIYLSQEELHCWKIWKQRIRDLSVSQDYIMNLQEQCSPH +LEDVSLCEEWAGMSLQISENENYVVNAIIKNQDITAWQSLTQVLTPESWRKANIMTEPQKSQGRYKGIYVEEKLYRHARHDESLNWTSRDHHESQECKGE +DPGRHPNCGKNLGMKSTVEQHHAVHVLPQPFTCNNCGVAFADDTDPRVHHSTHLGEKSYKCDQYGKNLSQSQYLIVHCKTHSGETPYEFHEWPTGCKQSS +DLPRCQKVPSGDNPTNVKNVARASGATPPFTTIIESTQGRCPTNATYVGKRLDLGHFLVFIREYTQGKSPTNVKIVGRALNRAPTFLSIRESTLERSPTN +PVSVASALVQAPFFKSTGGFTQGRNLIGVVSVERASAKVHTFTFTRESTQGRNNTMQCVWKGFWV* +>line4974 NM_001304449 WILDTYPE +MIKFQERVTFKDIAVIFTKEELAVLDKAQINLYQDVMLENFRNFISVDGIKNNILNLQGKGLIYLSQEELHCWKIWKQRIRDLSVSQDYIMNLQEQCSPH +LEDVSLCEEWAGMSLQISENENYVVNAIIKNQDITAWQSLTQVLTPESWRKANIMTEPQKSQGRYKGIYVEEKLYRHARHDESLNWTSRDHHESQECKGE +DPGRHPNCGKNLGMKSTVEQHHAVHVLPQPFTCNNCGVAFADDTDPRVHHSTHLGEKSYKCDQYGKNLSQSQYLIVHCKTHSGETPYEFHEWPTGCKQSS +DLPRCQKVPSGDNPYKCKECGKGFRCNSSLHNHHRVHTGEMPYKCHVCGKAFGFRSLPCIHQGVHTGKKPYKCEDCGKGFEQSSNLLIHQRVHTGEKPYK +SSECGKCFSSSSVLQVHWRFHTGEKPYRCGECGKGFSQSTHLHIHQRVHTGEKQYNAMCVERILGIVLFFTLIREFTLQKNHINAKCVESALVTVHIFTS +IKAITQERNHINVMSVVKASVGIQIFNVHLRVHRGQRPCKCKACGKGFSRNSHLLAQQRVRIDKTQYTHCEHGKDLLTHQRLHEQRETL* +>line4974 NM_001304449 c.1579delA p.N527Mfs*35 protein-altering (position 527-589 changed from NVHLRVHRGQRPCKCKACGKGFSRNSHLLAQQRVRIDKTQYTHCEHGKDLLTHQRLHEQRETL to MFISESTEDRGPVSVRHVVRASVVIRTSLPNRECV) +MIKFQERVTFKDIAVIFTKEELAVLDKAQINLYQDVMLENFRNFISVDGIKNNILNLQGKGLIYLSQEELHCWKIWKQRIRDLSVSQDYIMNLQEQCSPH +LEDVSLCEEWAGMSLQISENENYVVNAIIKNQDITAWQSLTQVLTPESWRKANIMTEPQKSQGRYKGIYVEEKLYRHARHDESLNWTSRDHHESQECKGE +DPGRHPNCGKNLGMKSTVEQHHAVHVLPQPFTCNNCGVAFADDTDPRVHHSTHLGEKSYKCDQYGKNLSQSQYLIVHCKTHSGETPYEFHEWPTGCKQSS +DLPRCQKVPSGDNPYKCKECGKGFRCNSSLHNHHRVHTGEMPYKCHVCGKAFGFRSLPCIHQGVHTGKKPYKCEDCGKGFEQSSNLLIHQRVHTGEKPYK +SSECGKCFSSSSVLQVHWRFHTGEKPYRCGECGKGFSQSTHLHIHQRVHTGEKQYNAMCVERILGIVLFFTLIREFTLQKNHINAKCVESALVTVHIFTS +IKAITQERNHINVMSVVKASVGIQIFMFISESTEDRGPVSVRHVVRASVVIRTSLPNRECV* +>line5139 NM_007115 WILDTYPE +MIILIYLFLLLWEDTQGWGFKDGIFHNSIWLERAAGVYHREARSGKYKLTYAEAKAVCEFEGGHLATYKQLEAARKIGFHVCAAGWMAKGRVGYPIVKPG +PNCGFGKTGIIDYGIRLNRSERWDAYCYNPHAKECGGVFTDPKQIFKSPGFPNEYEDNQICYWHIRLKYGQRIHLSFLDFDLEDDPGCLADYVEIYDSYD +DVHGFVGRYCGDELPDDIISTGNVMTLKFLSDASVTAGGFQIKYVAMDPVSKSSQGKNTSTTSTGNKNFLAGRFSHL* +>line5139 NM_007115 c.833delA p.X278X silent (no amino acid change) +MIILIYLFLLLWEDTQGWGFKDGIFHNSIWLERAAGVYHREARSGKYKLTYAEAKAVCEFEGGHLATYKQLEAARKIGFHVCAAGWMAKGRVGYPIVKPG +PNCGFGKTGIIDYGIRLNRSERWDAYCYNPHAKECGGVFTDPKQIFKSPGFPNEYEDNQICYWHIRLKYGQRIHLSFLDFDLEDDPGCLADYVEIYDSYD +DVHGFVGRYCGDELPDDIISTGNVMTLKFLSDASVTAGGFQIKYVAMDPVSKSSQGKNTSTTSTGNKNFLAGRFSHL* +>line5498 NM_001199746 WILDTYPE +MSSYFVNPLYSKYKAAAAAAAAAGEAINPTYYDCHFAPEVGGRHAAAAAALQLYGNSAAGFPHAPPQAHAHPHPSPPPSGTGCGGREGRGQEYFHPGGGS +PAAAYQAAPPPPPHPPPPPPPPPCGGIACHGEPAKFYGYDNLQRQPIFTTQQEAELVQYPDCKSSSGNIGEDPDHLNQSSSPSQMFPWMRPQAPGRRRGR +QTYSRFQTLELEKEFLFNPYLTRKRRIEVSHALALTERQVKIWFQNRRMKWKKENNKDKFPVSRQEVKDGETKKEAQELEEDRAEGLTN* +>line5498 NM_001199746 c.52_54del p.A23del protein-altering (position 23 changed from A to ) +MSSYFVNPLYSKYKAAAAAAAAGEAINPTYYDCHFAPEVGGRHAAAAAALQLYGNSAAGFPHAPPQAHAHPHPSPPPSGTGCGGREGRGQEYFHPGGGSP +AAAYQAAPPPPPHPPPPPPPPPCGGIACHGEPAKFYGYDNLQRQPIFTTQQEAELVQYPDCKSSSGNIGEDPDHLNQSSSPSQMFPWMRPQAPGRRRGRQ +TYSRFQTLELEKEFLFNPYLTRKRRIEVSHALALTERQVKIWFQNRRMKWKKENNKDKFPVSRQEVKDGETKKEAQELEEDRAEGLTN* +>line5522 NM_001077358 WILDTYPE +MQMYLPFCGIAISNAQLFAASRKEYERSRALLEVVNDLFEEQTDLEKIVKKIMHRAQTLLKCERCSVLLLEDIESPVVKFTKSFELMSPKCSADAENSFK +ESMEKSSYSDWLINNSIAELVASTGLPVNISDAYQDPRFDAEADQISGFHIRSVLCVPIWNSNHQIIGVAQVLNRLDGKPFDDADQRLFEAFVIFCGLGI +NNTIMYDQVKKSWAKQSVALDVLSYHATCSKAEVDKFKAANIPLVSELAIDDIHFDDFSLDVDAMITAALRMFMELGMVQKFKIDYETLCRWLLTVRKNY +RMVLYHNWRHAFNVCQLMFAMLTTAGFQDILTEVEILAVIVGCLCHDLDHRGTNNAFQAKSGSALAQLYGTSATLEHHHFNHAVMILQSEGHNIFANLSS +KEYSDLMQLLKQSILATDLTLYFERRTEFFELVSKGEYDWNIKNHRDIFRSMLMTACDLGAVTKPWEISRQVAELVTSEFFEQGDRERLELKLTPSAIFD +RNRKDELPRLQLEWIDSICMPLYQALVKVNVKLKPMLDSVATNRSKWEELHQKRLLASTASSSPASVMVAKEDRN* +>line5522 NM_001077358 c.1689_1690insTCC p.S563_P564insS protein-altering (position 563-564 has insertion S) +MQMYLPFCGIAISNAQLFAASRKEYERSRALLEVVNDLFEEQTDLEKIVKKIMHRAQTLLKCERCSVLLLEDIESPVVKFTKSFELMSPKCSADAENSFK +ESMEKSSYSDWLINNSIAELVASTGLPVNISDAYQDPRFDAEADQISGFHIRSVLCVPIWNSNHQIIGVAQVLNRLDGKPFDDADQRLFEAFVIFCGLGI +NNTIMYDQVKKSWAKQSVALDVLSYHATCSKAEVDKFKAANIPLVSELAIDDIHFDDFSLDVDAMITAALRMFMELGMVQKFKIDYETLCRWLLTVRKNY +RMVLYHNWRHAFNVCQLMFAMLTTAGFQDILTEVEILAVIVGCLCHDLDHRGTNNAFQAKSGSALAQLYGTSATLEHHHFNHAVMILQSEGHNIFANLSS +KEYSDLMQLLKQSILATDLTLYFERRTEFFELVSKGEYDWNIKNHRDIFRSMLMTACDLGAVTKPWEISRQVAELVTSEFFEQGDRERLELKLTPSAIFD +RNRKDELPRLQLEWIDSICMPLYQALVKVNVKLKPMLDSVATNRSKWEELHQKRLLASTASSSSPASVMVAKEDRN* +>line5624 NM_194250 WILDTYPE +MECYYIVISSTHLSNGHFRNIKGVFRGPLSKNGNKTLDYAEKENTIAKALEDLKANFYCELCDKQYYKHQEFDNHINSYDHAHKQRLKELKQREFARNVA +SKSRKDERKQEKALQRLHKLAELRKETVCAPGSGPMFKSTTVTVRENCNEISQRVVVDSVNNQQDFKYTLIHSEENTKDATTVAEDPESANNYTAKNNQV +GDQAQGIHRHKIGFSFAFPKKASVKLESSAAAFSEYSDDASVGKGFSRKSRFVPSACHLQQSSPTDVLLSSEEKTNSFHPPEAMCRDKETVQTQEIKEVS +SEKDALLLPSFCKFQLQLSSDADNCQNSVPLADQIPLESVVINEDIPVSGNSFELLGNKSTVLDMSNDCISVQATTEENVKHNEASTTEVENKNGPETLA +PSNTEEVNITIHKKTNFCKRQCEPFVPVLNKHRSTVLQWPSEMLVYTTTKPSISYSCNPLCFDFKSTKVNNNLDKNKPDLKDLCSQQKQEDICMGPLSDY +KDVSTEGLTDYEIGSSKNKCSQVTPLLADDILSSSCDSGKNENTGQRYKNISCKIRETEKYNFTKSQIKQDTLDEKYNKIRLKETHEYWFHKSRRKKKRK +KLCQHHHMEKTKESETRCKMEAENSYTENAGKYLLEPISEKQYLAAEQLLDSHQLLDKRPKSESISLSDNEEMCKTWNTEYNTYDTISSKNHCKKNTILL +NGQSNATMIHSGKHNLTYSRTYCCWKTKMSSCSQDHRSLVLQNDMKHMSQNQAVKRGYNSVMNESERFYRKRRQHSHSYSSDESLNRQNHLPEEFLRPPS +TSVAPCKPKKKRRRKRGRFHPGFETLELKENTDYPVKDNSSLNPLDRLISEDKKEKMKPQEVAKIERNSEQTNQLRNKLSFHPNNLLPSETNGETEHLEM +ETTSGELSDVSNDPTTSVCVASAPTKEAIDNTLLEHKERSENINLNEKQIPFQVPNIERNFRQSQPKSYLCHYELAEALPQGKMNETPTEWLRYNSGILN +TQPPLPFKEAHVSGHTFVTAEQILAPLALPEQALLIPLENHDKFKNVPCEVYQHILQPNMLANKVKFTFPPAALPPPSTPLQPLPLQQSLCSTSVTTIHH +TVLQQHAAAAAAAAAAAAAGTFKVLQPHQQFLSQIPALTRTSLPQLSVGPVGPRLCPGNQPTFVAPPQMPIIPASVLHPSHLAFPSLPHALFPSLLSPHP +TVIPLQPLF* +>line5624 NM_194250 c.2088_2089insACA p.T697_I698insT protein-altering (position 697-698 has insertion T) +MECYYIVISSTHLSNGHFRNIKGVFRGPLSKNGNKTLDYAEKENTIAKALEDLKANFYCELCDKQYYKHQEFDNHINSYDHAHKQRLKELKQREFARNVA +SKSRKDERKQEKALQRLHKLAELRKETVCAPGSGPMFKSTTVTVRENCNEISQRVVVDSVNNQQDFKYTLIHSEENTKDATTVAEDPESANNYTAKNNQV +GDQAQGIHRHKIGFSFAFPKKASVKLESSAAAFSEYSDDASVGKGFSRKSRFVPSACHLQQSSPTDVLLSSEEKTNSFHPPEAMCRDKETVQTQEIKEVS +SEKDALLLPSFCKFQLQLSSDADNCQNSVPLADQIPLESVVINEDIPVSGNSFELLGNKSTVLDMSNDCISVQATTEENVKHNEASTTEVENKNGPETLA +PSNTEEVNITIHKKTNFCKRQCEPFVPVLNKHRSTVLQWPSEMLVYTTTKPSISYSCNPLCFDFKSTKVNNNLDKNKPDLKDLCSQQKQEDICMGPLSDY +KDVSTEGLTDYEIGSSKNKCSQVTPLLADDILSSSCDSGKNENTGQRYKNISCKIRETEKYNFTKSQIKQDTLDEKYNKIRLKETHEYWFHKSRRKKKRK +KLCQHHHMEKTKESETRCKMEAENSYTENAGKYLLEPISEKQYLAAEQLLDSHQLLDKRPKSESISLSDNEEMCKTWNTEYNTYDTISSKNHCKKNTTIL +LNGQSNATMIHSGKHNLTYSRTYCCWKTKMSSCSQDHRSLVLQNDMKHMSQNQAVKRGYNSVMNESERFYRKRRQHSHSYSSDESLNRQNHLPEEFLRPP +STSVAPCKPKKKRRRKRGRFHPGFETLELKENTDYPVKDNSSLNPLDRLISEDKKEKMKPQEVAKIERNSEQTNQLRNKLSFHPNNLLPSETNGETEHLE +METTSGELSDVSNDPTTSVCVASAPTKEAIDNTLLEHKERSENINLNEKQIPFQVPNIERNFRQSQPKSYLCHYELAEALPQGKMNETPTEWLRYNSGIL +NTQPPLPFKEAHVSGHTFVTAEQILAPLALPEQALLIPLENHDKFKNVPCEVYQHILQPNMLANKVKFTFPPAALPPPSTPLQPLPLQQSLCSTSVTTIH +HTVLQQHAAAAAAAAAAAAAGTFKVLQPHQQFLSQIPALTRTSLPQLSVGPVGPRLCPGNQPTFVAPPQMPIIPASVLHPSHLAFPSLPHALFPSLLSPH +PTVIPLQPLF* +>line5642 NM_177454 WILDTYPE +MARLCRRVPCTLLLGLAVVLLKARLVPAAARAELSRSDLSLIQQQQQQQQQQQQQQKQLEEAEEERTEVPGATSTLTVPVSVFMLKVQVNDIISRQYLSQ +AVVEVFVNYTKTNSTVTKSNGAVLIKVPYKLGLSLTIIAYKDGYVLTPLPWKTRRMPIYSSVTLSLFPQSQANIWLFEDTVLITGKLADAKSQPSVQFSK +ALIKLPDNHHISNVTGYLTVLQQFLKVDNFLHTTGITLNKPGFENIELTPLAAICVKIYSGGKELKVNGSIQVSLPLLRLNDISAGDRIPAWTFDMNTGA +WVNHGRGMVKEHNNHLIWTYDAPHLGYWIAAPLPGTRGSGINEDSKDITAYHTVFLTAILGGTIVIVIGFFAVLLCYCRDKCGTPQKRERNITKLEVLKR +DQTTSTTHINHISTVKVALKAEDKSQLFNAKNSSYSPQKKEPSKAETEERVSMVKTRDDFKIYNEDVSFLSVNQNNYSRNPTQSLEPNVGSKQPKHINNN +LSSSLGDAQDEKRYLTGNEEAYGRSHIPEQLMHIYSQPIAILQTSDLFSTPEQLHTAKSATLPRKGQLVYGQLMEPVNRENFTQTLPKMPIHSHAQPPDA +REEDIILEGQQSLPSQASDWSRYSSSLLESVSVPGTLNEAVVMTPFSSELQGISEQTLLELSKGKPSPHPRAWFVSLDGKPVAQVRHSFIDLKKGKRTQS +NDTSLDSGVDMNELHSSRKLEREKTFIKSMHQPKILYLEDLDLSSSESGTTVCSPEDPALRHILDGGSGVIMEHPGEESPGRKSTVEDFEANTSPTKRRG +RPPLAKRDSKTNIWKKREERPLIPIN* +>line5642 NM_177454 c.129_130insCAG p.Q56_K57insQ protein-altering (position 56-57 has insertion Q) +MARLCRRVPCTLLLGLAVVLLKARLVPAAARAELSRSDLSLIQQQQQQQQQQQQQQQKQLEEAEEERTEVPGATSTLTVPVSVFMLKVQVNDIISRQYLS +QAVVEVFVNYTKTNSTVTKSNGAVLIKVPYKLGLSLTIIAYKDGYVLTPLPWKTRRMPIYSSVTLSLFPQSQANIWLFEDTVLITGKLADAKSQPSVQFS +KALIKLPDNHHISNVTGYLTVLQQFLKVDNFLHTTGITLNKPGFENIELTPLAAICVKIYSGGKELKVNGSIQVSLPLLRLNDISAGDRIPAWTFDMNTG +AWVNHGRGMVKEHNNHLIWTYDAPHLGYWIAAPLPGTRGSGINEDSKDITAYHTVFLTAILGGTIVIVIGFFAVLLCYCRDKCGTPQKRERNITKLEVLK +RDQTTSTTHINHISTVKVALKAEDKSQLFNAKNSSYSPQKKEPSKAETEERVSMVKTRDDFKIYNEDVSFLSVNQNNYSRNPTQSLEPNVGSKQPKHINN +NLSSSLGDAQDEKRYLTGNEEAYGRSHIPEQLMHIYSQPIAILQTSDLFSTPEQLHTAKSATLPRKGQLVYGQLMEPVNRENFTQTLPKMPIHSHAQPPD +AREEDIILEGQQSLPSQASDWSRYSSSLLESVSVPGTLNEAVVMTPFSSELQGISEQTLLELSKGKPSPHPRAWFVSLDGKPVAQVRHSFIDLKKGKRTQ +SNDTSLDSGVDMNELHSSRKLEREKTFIKSMHQPKILYLEDLDLSSSESGTTVCSPEDPALRHILDGGSGVIMEHPGEESPGRKSTVEDFEANTSPTKRR +GRPPLAKRDSKTNIWKKREERPLIPIN* +>line5828 NM_001080539 WILDTYPE +MDCKVHMETTVSRPVLSPTHINATASETFTVLQQRMRIVEEQTSSLRDDLIMLDFGEKRGYLEAPDCLEDLDSQKVISPIQNEAICAGKTDILWKNCEFL +VNRMCRLESLMQSLKMNIFRLQTEKDLNPQKTAFLKDRLNAIQEEHSKDLKLLHLEVMNLRQQLRAVKEEEDKAQDEVQRLTATLKIASQTKKNAAIIEE +ELKTTKRKMNLKIQELRRQLAQEKYLRESLEKSASAMLLKIQEMGSTVEVERKQVHILQQNCIALRDSIQSAQELLAQEQKKKEELEIATSQLKSDLTSR +DDLISKLVEENKNLQISFNKEHEENAYLRSEIMSLHEASEKAQVLNDQLTKKCSELSCMLQTVTMEKARIIADHQAILQVEQKMMTQTFQEQNLLLDAAH +ASITNELQTVQNEKTQLQAHLDHLILEHNQCIQKAQDAEKRTAVQKELLESTIARLRGELEASMQEKKSLLEEKERFQREVNKTEKEIVQERCNLEKELA +KNKVDINTLTHNLQTLEEENKHLADQMASLELQQVTSDYHGLAQQKVEKITESKNKLAYENGKLQIKVKQLEEQVQSFTDTSLQNDHLRKMNKYLQTKYA +QANSELSAKRVHLQQADAHLKEVKSILERSKEELSRTVKCRNAALKESQKLKEDLEAVEDRENKKVGNFQRQLAEAKEDNCKVTIMLENVLASHSKMQGA +LEKVQIELGRRDSEIAGLKKERDLNQQRVQKLEAEVDQWQARMLVMEDQHNSEIESLQKALGVAREDNRKLAMSLEQALQTNNHLQTKLDHIQEQLESKE +LERQNLETFKDRMTEESKVEAELHAERIEALRKQFQTERETTKKVAQREVAELKKALDEANFRSVEVSRTNRELRQKLAELEKILESNKEKIKNQKTQIK +LHLSAKANNAQNIERMKQIEKELKQMELIKDQYQKKNYEQSLSIQRFVCEMTNLQKEMQMLAKSQYDASVRNKQQELHLEAERKIRQELENRCQELEETV +RHLKKCKEATENTLKEASVESEQITANLEEAHRWFKHRFDGLQLELTKNRLQRPSGEDRWQEKDQDVKHDVMSNQSVLHRWERKQNLRPMPKKYHSEVQR +K* +>line5828 NM_001080539 c.839delA p.E284Kfs*13 protein-altering (position 284-1101 changed from EELEIATSQLKSDLTSRDDLISKLVEENKNLQISFNKEHEENAYLRSEIMSLHEASEKAQVLNDQLTKKCSELSCMLQTVTMEKARIIADHQAILQVEQKMMTQTFQEQNLLLDAAHASITNELQTVQNEKTQLQAHLDHLILEHNQCIQKAQDAEKRTAVQKELLESTIARLRGELEASMQEKKSLLEEKERFQREVNKTEKEIVQERCNLEKELAKNKVDINTLTHNLQTLEEENKHLADQMASLELQQVTSDYHGLAQQKVEKITESKNKLAYENGKLQIKVKQLEEQVQSFTDTSLQNDHLRKMNKYLQTKYAQANSELSAKRVHLQQADAHLKEVKSILERSKEELSRTVKCRNAALKESQKLKEDLEAVEDRENKKVGNFQRQLAEAKEDNCKVTIMLENVLASHSKMQGALEKVQIELGRRDSEIAGLKKERDLNQQRVQKLEAEVDQWQARMLVMEDQHNSEIESLQKALGVAREDNRKLAMSLEQALQTNNHLQTKLDHIQEQLESKELERQNLETFKDRMTEESKVEAELHAERIEALRKQFQTERETTKKVAQREVAELKKALDEANFRSVEVSRTNRELRQKLAELEKILESNKEKIKNQKTQIKLHLSAKANNAQNIERMKQIEKELKQMELIKDQYQKKNYEQSLSIQRFVCEMTNLQKEMQMLAKSQYDASVRNKQQELHLEAERKIRQELENRCQELEETVRHLKKCKEATENTLKEASVESEQITANLEEAHRWFKHRFDGLQLELTKNRLQRPSGEDRWQEKDQDVKHDVMSNQSVLHRWERKQNLRPMPKKYHSEVQRK to KSWRLLLHSSNLI) +MDCKVHMETTVSRPVLSPTHINATASETFTVLQQRMRIVEEQTSSLRDDLIMLDFGEKRGYLEAPDCLEDLDSQKVISPIQNEAICAGKTDILWKNCEFL +VNRMCRLESLMQSLKMNIFRLQTEKDLNPQKTAFLKDRLNAIQEEHSKDLKLLHLEVMNLRQQLRAVKEEEDKAQDEVQRLTATLKIASQTKKNAAIIEE +ELKTTKRKMNLKIQELRRQLAQEKYLRESLEKSASAMLLKIQEMGSTVEVERKQVHILQQNCIALRDSIQSAQELLAQEQKKKKSWRLLLHSSNLI* +>line5995 NM_201279 WILDTYPE +MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADL +LGKHCGNIAPPTIISSGSMLYIRFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDP +LQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYS +DGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHA +PLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKG +VIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPT +VETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYA +RLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENC +MEPISAFADEYEVDWSNSSSATSGSGAPSTDKEKSWLYTLDPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSRSCTTLENYNFELYDGLKHKVKM +NHQKCCSEA* +>line5995 NM_201279 c.145_146GG p.Y49G protein-altering (position 49 changed from Y to G) +MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDGPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADL +LGKHCGNIAPPTIISSGSMLYIRFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDP +LQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYS +DGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHA +PLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKG +VIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPT +VETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYA +RLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENC +MEPISAFADEYEVDWSNSSSATSGSGAPSTDKEKSWLYTLDPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSRSCTTLENYNFELYDGLKHKVKM +NHQKCCSEA* +>line6454 NM_139072 WILDTYPE +MQPRRAQAPGAQLLPALALLLLLLGAGPRGSSLANPVPAAPLSAPGPCAAQPCRNGGVCTSRPEPDPQHPAPAGEPGYSCTCPAGISGANCQLVADPCAS +NPCHHGNCSSSSSSSSDGYLCICNEGYEGPNCEQALPSLPATGWTESMAPRQLQPVPATQEPDKILPRSQATVTLPTWQPKTGQKVVEMKWDQVEVIPDI +ACGNASSNSSAGGRLVSFEVPQNTSVKIRQDATASLILLWKVTATGFQQCSLIDGRSVTPLQASGGLVLLEEMLALGNNHFIGFVNDSVTKSIVALRLTL +VVKVSTCVPGESHANDLECSGKGKCTTKPSEATFSCTCEEQYVGTFCEEYDACQRKPCQNNASCIDANEKQDGSNFTCVCLPGYTGELCQSKIDYCILDP +CRNGATCISSLSGFTCQCPEGYFGSACEEKVDPCASSPCQNNGTCYVDGVHFTCNCSPGFTGPTCAQLIDFCALSPCAHGTCRSVGTSYKCLCDPGYHGL +YCEEEYNECLSAPCLNAATCRDLVNGYECVCLAEYKGTHCELYKDPCANVSCLNGATCDSDGLNGTCICAPGFTGEECDIDINECDSNPCHHGGSCLDQP +NGYNCHCPHGWVGANCEIHLQWKSGHMAESLTNMPRHSLYIIIGALCVAFILMLIILIVGICRISRIEYQGSSRPAYEEFYNCRSIDSEFSNAIASIRHA +RFGKKSRPAMYDVSPIAYEDYSPDDKPLVTLIKTKDL* +>line6454 NM_139072 c.346_348del p.S116del protein-altering (position 116 changed from S to ) +MQPRRAQAPGAQLLPALALLLLLLGAGPRGSSLANPVPAAPLSAPGPCAAQPCRNGGVCTSRPEPDPQHPAPAGEPGYSCTCPAGISGANCQLVADPCAS +NPCHHGNCSSSSSSSDGYLCICNEGYEGPNCEQALPSLPATGWTESMAPRQLQPVPATQEPDKILPRSQATVTLPTWQPKTGQKVVEMKWDQVEVIPDIA +CGNASSNSSAGGRLVSFEVPQNTSVKIRQDATASLILLWKVTATGFQQCSLIDGRSVTPLQASGGLVLLEEMLALGNNHFIGFVNDSVTKSIVALRLTLV +VKVSTCVPGESHANDLECSGKGKCTTKPSEATFSCTCEEQYVGTFCEEYDACQRKPCQNNASCIDANEKQDGSNFTCVCLPGYTGELCQSKIDYCILDPC +RNGATCISSLSGFTCQCPEGYFGSACEEKVDPCASSPCQNNGTCYVDGVHFTCNCSPGFTGPTCAQLIDFCALSPCAHGTCRSVGTSYKCLCDPGYHGLY +CEEEYNECLSAPCLNAATCRDLVNGYECVCLAEYKGTHCELYKDPCANVSCLNGATCDSDGLNGTCICAPGFTGEECDIDINECDSNPCHHGGSCLDQPN +GYNCHCPHGWVGANCEIHLQWKSGHMAESLTNMPRHSLYIIIGALCVAFILMLIILIVGICRISRIEYQGSSRPAYEEFYNCRSIDSEFSNAIASIRHAR +FGKKSRPAMYDVSPIAYEDYSPDDKPLVTLIKTKDL* +>line6513 NM_001103148 WILDTYPE +MAAETQTLNFGPEWLRALSSGGSITSPPLSPALPKYKLADYRYGREEMLALFLKDNKIPSDLLDKEFLPILQEEPLPPLALVPFTEEEQRNFSMSVNSAA +VLRLTGRGGGGTVVGAPRGRSSSRGRGRGRGECGFYQRSFDEVEGVFGRGGGREMHRSQSWEERGDRRFEKPGRKDVGRPNFEEGGPTSVGRKHEFIRSE +SENWRIFREEQNGEDEDGGWRLAGSRRDGERWRPHSPGWREHMERRRRFEFDFRDRDDERGYRRVRSGSGSIDDDRDSLPEWCLEDAEEEMGTFDSSGAF +LSLKKVQKEPIPEEQEMDFRPVDEGEECSDSEGSHNEEAKEPDKTNKKEGEKTDRVGVEASEETPQTSSSSARPGTPSDHQSQEASQFERKDEPKTEQTE +KAEEETRMENSLPAKVPSRGDEMVADVQQPLSQIPSDTASPLLILPPPVPNPSPTLRPVETPVVGAPGMGSVSTEPDDEEGLKHLEQQAEKMVAYLQDSA +LDDERLASKLQEHRAKGVSIPLMHEAMQKWYYKDPQGEIQGPFNNQEMAEWFQAGYFTMSLLVKRACDESFQPLGDIMKMWGRVPFSPGPAPPPHMGELD +QERLTRQQELTALYQMQHLQYQQFLIQQQYAQVLAQQQKAALSSQQQQQLALLLQQFQTLKMRISDQNIIPSVTRSVSVPDTGSIWELQPTASQPTVWEG +GSVWDLPLDTTTPGPALEQLQQLEKAKAAKLEQERREAEMRAKREEEERKRQEELRRQQEEILRRQQEEERKRREEEELARRKQEEALRRQREQEIALRR +QREEEERQQQEEALRRLEERRREEEERRKQEELLRKQEEEAAKWAREEEEAQRRLEENRLRMEEEAARLRHEEEERKRKELEVQRQKELMRQRQQQQEAL +RRLQQQQQQQQLAQMKLPSSSTWGQQSNTTACQSQATLSLAEIQKLEEERERQLREEQRRQQRELMKALQQQQQQQQQKLSGWGNVSKPSGTTKSLLEIQ +QEEARQMQKQQQQQQQHQQPNRARNNTHSNLHTSIGNSVWGSINTGPPNQWASDLVSSIWSNADTKNSNMGFWDDAVKEVGPRNSTNKNKNNASLSKSVG +VSNRQNKKVEEEEKLLKLFQGVNKAQDGFTQWCEQMLHALNTANNLDVPTFVSFLKEVESPYEVHDYIRAYLGDTSEAKEFAKQFLERRAKQKANQQRQQ +QQLPQQQQQQPPQQPPQQPQQQDSVWGMNHSTLHSVFQTNQSNNQQSNFEAVQSGKKKKKQKMVRADPSLLGFSVNASSERLNMGEIETLDDY* +>line6513 NM_001103148 c.2709_2711del p.Q911del protein-altering (position 911 changed from Q to ) +MAAETQTLNFGPEWLRALSSGGSITSPPLSPALPKYKLADYRYGREEMLALFLKDNKIPSDLLDKEFLPILQEEPLPPLALVPFTEEEQRNFSMSVNSAA +VLRLTGRGGGGTVVGAPRGRSSSRGRGRGRGECGFYQRSFDEVEGVFGRGGGREMHRSQSWEERGDRRFEKPGRKDVGRPNFEEGGPTSVGRKHEFIRSE +SENWRIFREEQNGEDEDGGWRLAGSRRDGERWRPHSPGWREHMERRRRFEFDFRDRDDERGYRRVRSGSGSIDDDRDSLPEWCLEDAEEEMGTFDSSGAF +LSLKKVQKEPIPEEQEMDFRPVDEGEECSDSEGSHNEEAKEPDKTNKKEGEKTDRVGVEASEETPQTSSSSARPGTPSDHQSQEASQFERKDEPKTEQTE +KAEEETRMENSLPAKVPSRGDEMVADVQQPLSQIPSDTASPLLILPPPVPNPSPTLRPVETPVVGAPGMGSVSTEPDDEEGLKHLEQQAEKMVAYLQDSA +LDDERLASKLQEHRAKGVSIPLMHEAMQKWYYKDPQGEIQGPFNNQEMAEWFQAGYFTMSLLVKRACDESFQPLGDIMKMWGRVPFSPGPAPPPHMGELD +QERLTRQQELTALYQMQHLQYQQFLIQQQYAQVLAQQQKAALSSQQQQQLALLLQQFQTLKMRISDQNIIPSVTRSVSVPDTGSIWELQPTASQPTVWEG +GSVWDLPLDTTTPGPALEQLQQLEKAKAAKLEQERREAEMRAKREEEERKRQEELRRQQEEILRRQQEEERKRREEEELARRKQEEALRRQREQEIALRR +QREEEERQQQEEALRRLEERRREEEERRKQEELLRKQEEEAAKWAREEEEAQRRLEENRLRMEEEAARLRHEEEERKRKELEVQRQKELMRQRQQQQEAL +RRLQQQQQQQLAQMKLPSSSTWGQQSNTTACQSQATLSLAEIQKLEEERERQLREEQRRQQRELMKALQQQQQQQQQKLSGWGNVSKPSGTTKSLLEIQQ +EEARQMQKQQQQQQQHQQPNRARNNTHSNLHTSIGNSVWGSINTGPPNQWASDLVSSIWSNADTKNSNMGFWDDAVKEVGPRNSTNKNKNNASLSKSVGV +SNRQNKKVEEEEKLLKLFQGVNKAQDGFTQWCEQMLHALNTANNLDVPTFVSFLKEVESPYEVHDYIRAYLGDTSEAKEFAKQFLERRAKQKANQQRQQQ +QLPQQQQQQPPQQPPQQPQQQDSVWGMNHSTLHSVFQTNQSNNQQSNFEAVQSGKKKKKQKMVRADPSLLGFSVNASSERLNMGEIETLDDY* +>line6514 NM_001103148 WILDTYPE +MAAETQTLNFGPEWLRALSSGGSITSPPLSPALPKYKLADYRYGREEMLALFLKDNKIPSDLLDKEFLPILQEEPLPPLALVPFTEEEQRNFSMSVNSAA +VLRLTGRGGGGTVVGAPRGRSSSRGRGRGRGECGFYQRSFDEVEGVFGRGGGREMHRSQSWEERGDRRFEKPGRKDVGRPNFEEGGPTSVGRKHEFIRSE +SENWRIFREEQNGEDEDGGWRLAGSRRDGERWRPHSPGWREHMERRRRFEFDFRDRDDERGYRRVRSGSGSIDDDRDSLPEWCLEDAEEEMGTFDSSGAF +LSLKKVQKEPIPEEQEMDFRPVDEGEECSDSEGSHNEEAKEPDKTNKKEGEKTDRVGVEASEETPQTSSSSARPGTPSDHQSQEASQFERKDEPKTEQTE +KAEEETRMENSLPAKVPSRGDEMVADVQQPLSQIPSDTASPLLILPPPVPNPSPTLRPVETPVVGAPGMGSVSTEPDDEEGLKHLEQQAEKMVAYLQDSA +LDDERLASKLQEHRAKGVSIPLMHEAMQKWYYKDPQGEIQGPFNNQEMAEWFQAGYFTMSLLVKRACDESFQPLGDIMKMWGRVPFSPGPAPPPHMGELD +QERLTRQQELTALYQMQHLQYQQFLIQQQYAQVLAQQQKAALSSQQQQQLALLLQQFQTLKMRISDQNIIPSVTRSVSVPDTGSIWELQPTASQPTVWEG +GSVWDLPLDTTTPGPALEQLQQLEKAKAAKLEQERREAEMRAKREEEERKRQEELRRQQEEILRRQQEEERKRREEEELARRKQEEALRRQREQEIALRR +QREEEERQQQEEALRRLEERRREEEERRKQEELLRKQEEEAAKWAREEEEAQRRLEENRLRMEEEAARLRHEEEERKRKELEVQRQKELMRQRQQQQEAL +RRLQQQQQQQQLAQMKLPSSSTWGQQSNTTACQSQATLSLAEIQKLEEERERQLREEQRRQQRELMKALQQQQQQQQQKLSGWGNVSKPSGTTKSLLEIQ +QEEARQMQKQQQQQQQHQQPNRARNNTHSNLHTSIGNSVWGSINTGPPNQWASDLVSSIWSNADTKNSNMGFWDDAVKEVGPRNSTNKNKNNASLSKSVG +VSNRQNKKVEEEEKLLKLFQGVNKAQDGFTQWCEQMLHALNTANNLDVPTFVSFLKEVESPYEVHDYIRAYLGDTSEAKEFAKQFLERRAKQKANQQRQQ +QQLPQQQQQQPPQQPPQQPQQQDSVWGMNHSTLHSVFQTNQSNNQQSNFEAVQSGKKKKKQKMVRADPSLLGFSVNASSERLNMGEIETLDDY* +>line6514 NM_001103148 c.3612_3614del p.Q1210del protein-altering (position 1210 changed from Q to ) +MAAETQTLNFGPEWLRALSSGGSITSPPLSPALPKYKLADYRYGREEMLALFLKDNKIPSDLLDKEFLPILQEEPLPPLALVPFTEEEQRNFSMSVNSAA +VLRLTGRGGGGTVVGAPRGRSSSRGRGRGRGECGFYQRSFDEVEGVFGRGGGREMHRSQSWEERGDRRFEKPGRKDVGRPNFEEGGPTSVGRKHEFIRSE +SENWRIFREEQNGEDEDGGWRLAGSRRDGERWRPHSPGWREHMERRRRFEFDFRDRDDERGYRRVRSGSGSIDDDRDSLPEWCLEDAEEEMGTFDSSGAF +LSLKKVQKEPIPEEQEMDFRPVDEGEECSDSEGSHNEEAKEPDKTNKKEGEKTDRVGVEASEETPQTSSSSARPGTPSDHQSQEASQFERKDEPKTEQTE +KAEEETRMENSLPAKVPSRGDEMVADVQQPLSQIPSDTASPLLILPPPVPNPSPTLRPVETPVVGAPGMGSVSTEPDDEEGLKHLEQQAEKMVAYLQDSA +LDDERLASKLQEHRAKGVSIPLMHEAMQKWYYKDPQGEIQGPFNNQEMAEWFQAGYFTMSLLVKRACDESFQPLGDIMKMWGRVPFSPGPAPPPHMGELD +QERLTRQQELTALYQMQHLQYQQFLIQQQYAQVLAQQQKAALSSQQQQQLALLLQQFQTLKMRISDQNIIPSVTRSVSVPDTGSIWELQPTASQPTVWEG +GSVWDLPLDTTTPGPALEQLQQLEKAKAAKLEQERREAEMRAKREEEERKRQEELRRQQEEILRRQQEEERKRREEEELARRKQEEALRRQREQEIALRR +QREEEERQQQEEALRRLEERRREEEERRKQEELLRKQEEEAAKWAREEEEAQRRLEENRLRMEEEAARLRHEEEERKRKELEVQRQKELMRQRQQQQEAL +RRLQQQQQQQQLAQMKLPSSSTWGQQSNTTACQSQATLSLAEIQKLEEERERQLREEQRRQQRELMKALQQQQQQQQQKLSGWGNVSKPSGTTKSLLEIQ +QEEARQMQKQQQQQQQHQQPNRARNNTHSNLHTSIGNSVWGSINTGPPNQWASDLVSSIWSNADTKNSNMGFWDDAVKEVGPRNSTNKNKNNASLSKSVG +VSNRQNKKVEEEEKLLKLFQGVNKAQDGFTQWCEQMLHALNTANNLDVPTFVSFLKEVESPYEVHDYIRAYLGDTSEAKEFAKQFLERRAKQKANQQRQQ +QQLPQQQQQPPQQPPQQPQQQDSVWGMNHSTLHSVFQTNQSNNQQSNFEAVQSGKKKKKQKMVRADPSLLGFSVNASSERLNMGEIETLDDY* +>line6532 NM_019077 WILDTYPE +MARAGWTGLLPLYVCLLLTCGFAKAGKLLVVPMDGSHWFTMQSVVEKLILRGHEVVVVMPEVSWQLGRSLNCTVKTYSTSYTLEDQDREFMVFADARWTA +PLRSAFSLLTSSSNGIFDLFFSNCRSLFNDRKLVEYLKESCFDAVFLDPFDACGLIVAKYFSLPSVVFARGIFCHYLEEGAQCPAPLSYVPRLLLGFSDA +MTFKERVWNHIMHLEEHLFCPYFFKNVLEIASEILQTPVTAYDLYSHTSIWLLRTDFVLEYPKPVMPNMIFIGGINCHQGKPVPMEFEAYINASGEHGIV +VFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKR +METKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVA +FITFKCCAYGYRKCLGKKGRVKKAHKSKTH* +>line6532 NM_019077 c.391_392AA p.R131K protein-altering (position 131 changed from R to K) +MARAGWTGLLPLYVCLLLTCGFAKAGKLLVVPMDGSHWFTMQSVVEKLILRGHEVVVVMPEVSWQLGRSLNCTVKTYSTSYTLEDQDREFMVFADARWTA +PLRSAFSLLTSSSNGIFDLFFSNCRSLFNDKKLVEYLKESCFDAVFLDPFDACGLIVAKYFSLPSVVFARGIFCHYLEEGAQCPAPLSYVPRLLLGFSDA +MTFKERVWNHIMHLEEHLFCPYFFKNVLEIASEILQTPVTAYDLYSHTSIWLLRTDFVLEYPKPVMPNMIFIGGINCHQGKPVPMEFEAYINASGEHGIV +VFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKR +METKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVA +FITFKCCAYGYRKCLGKKGRVKKAHKSKTH* +>line6606 NM_001244008 WILDTYPE +MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYNVCIFAYGQTG +AGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYNDIQDLMDSGN +KARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEMDSGPNKNKKKKK +TDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVINEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGG +PKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETEKIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKT +PHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVLSGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHV +FRFNHPEQARQERERTPCAETPAEPVDWAFAQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEE +EPEDEVQWTERECELALWAFRKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQD +QKNGATHYWTLEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGSSAISGCNSYPLLNTCMSERMAALTPSPTFSSPDSDATEP +AEEQSVGEEEEEEEEEEDEEEEDLEDDVFPEHALCDGRDPFYDRPPLFSLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQAISADEEAPDY +GSGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLLDSSEKAALDGPLDAALDHLRLGNT +FTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFYHVQNIAVEVTKSFIEYIKSQPIVFEVFGHYQQHPFPPLCKDVLSPLRPS +RRHFPRVMPLSKPVPATKLSTLTRPCPGPCHCKYDLLVYFEICELEANGDYIPAVVDHRGGMPCMGTFLLHQGIQRRITVTLLHETGSHIRWKEVRELVV +GRIRNTPETDESLIDPNILSLNILSSGYIHPAQDDRTFYQFEAAWDSSMHNSLLLNRVTPYREKIYMTLSAYIEMENCTQPAVVTKDFCMVFYSRDAKLP +ASRSIRNLFGSGSLRASESNRVTGVYELSLCHVADAGSPGMQRRRRRVLDTSVAYVRGEENLAGWRPRSDSLILDHQWELEKLSLLQEVEKTRHYLLLRE +KLETAQRPVPEALSPAFSEDSESHGSSSASSPLSAEGRPSPLEAPNERQRELAVKCLRLLTHTFNREYTHSHVCVSASESKLSEMSVTLLRDPSMSPLGV +ATLTPSSTCPSLVEGRYGATDLRTPQPCSRPASPEPELLPEADSKKLPSPARATETDKEPQRLLVPDIQEIRVSPIVSKKGYLHFLEPHTSGWARRFVVV +RRPYAYMYNSDKDTVERFVLNLATAQVEYSEDQQAMLKTPNTFAVCTEHRGILLQAASDKDMHDWLYAFNPLLAGTIRSKLSRRRSAQMRV* +>line6606 NM_001244008 c.2751_2753del p.E917del protein-altering (position 917 changed from E to ) +MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYNVCIFAYGQTG +AGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYNDIQDLMDSGN +KARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEMDSGPNKNKKKKK +TDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVINEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDTNTVPGG +PKLTNALVGMSPSSSLSALSSRAASVSSLHERILFAPGSEEAIERLKETEKIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKT +PHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVLSGHFIKEEHCVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHV +FRFNHPEQARQERERTPCAETPAEPVDWAFAQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEE +EPEDEVQWTERECELALWAFRKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPFPRTIVAVEVQD +QKNGATHYWTLEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPFYDRFPWFRLVGSSAISGCNSYPLLNTCMSERMAALTPSPTFSSPDSDATEP +AEEQSVGEEEEEEEEEDEEEEDLEDDVFPEHALCDGRDPFYDRPPLFSLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQAISADEEAPDYG +SGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLLDSSEKAALDGPLDAALDHLRLGNTF +TFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFYHVQNIAVEVTKSFIEYIKSQPIVFEVFGHYQQHPFPPLCKDVLSPLRPSR +RHFPRVMPLSKPVPATKLSTLTRPCPGPCHCKYDLLVYFEICELEANGDYIPAVVDHRGGMPCMGTFLLHQGIQRRITVTLLHETGSHIRWKEVRELVVG +RIRNTPETDESLIDPNILSLNILSSGYIHPAQDDRTFYQFEAAWDSSMHNSLLLNRVTPYREKIYMTLSAYIEMENCTQPAVVTKDFCMVFYSRDAKLPA +SRSIRNLFGSGSLRASESNRVTGVYELSLCHVADAGSPGMQRRRRRVLDTSVAYVRGEENLAGWRPRSDSLILDHQWELEKLSLLQEVEKTRHYLLLREK +LETAQRPVPEALSPAFSEDSESHGSSSASSPLSAEGRPSPLEAPNERQRELAVKCLRLLTHTFNREYTHSHVCVSASESKLSEMSVTLLRDPSMSPLGVA +TLTPSSTCPSLVEGRYGATDLRTPQPCSRPASPEPELLPEADSKKLPSPARATETDKEPQRLLVPDIQEIRVSPIVSKKGYLHFLEPHTSGWARRFVVVR +RPYAYMYNSDKDTVERFVLNLATAQVEYSEDQQAMLKTPNTFAVCTEHRGILLQAASDKDMHDWLYAFNPLLAGTIRSKLSRRRSAQMRV* +>line6868 NM_001322876 WILDTYPE +MLPVFCVVEHYENAIEYDCKEEHAEFVLVRKDMLFNQLIEMALLSLGYSHSSAAQAKGLIQVGKWNPVPLSYVTDAPDATVADMLQDVYHVVTLKIQLHS +CPKLEDLPPEQWSHTTVRNALKDLLKDMNQSSLAKECPLSQSMISSIVNSTYYANVSAAKCQEFGRWYKHFKKTKDMMVEMDSLSELSQQGANHVNFGQQ +PVPGNTAEQPPSPAQLSHGSQPSVRTPLPNLHPGLVSTPISPQLVNQQLVMAQLLNQQYAVNRLLAQQSLNQQYLNHPPPVSRSMNKPLEQQVSTNTEVS +SEIYQWVRDELKRAGISQAVFARVAFNRTQGLLSEILRKEEDPKTASQSLLVNLRAMQNFLQLPEAERDRIYQDERERSLNAASAMGPAPLISTPPSRPP +QVKTATIATERNGKPENNTMNINASIYDEIQQEMKRAKVSQALFAKVAATKSQGWLCELLRWKEDPSPENRTLWENLSMIRRFLSLPQPERDAIYEQESN +AVHHHGDRPPHIIHVPAEQIQQQQQQQQQQQQQQQAPPPPQPQQQPQTGPRLPPRQPTVASPAESDEENRQKTRPRTKISVEALGILQSFIQDVGLYPDE +EAIQTLSAQLDLPKYTIIKFFQNQRYYLKHHGKLKDNSGLEVDVAEYKEEELLKDLEESVQDKNTNTLFSVKLEEELSVEGNTDINTDLKD* +>line6868 NM_001322876 c.1603_1605del p.Q535del protein-altering (position 535 changed from Q to ) +MLPVFCVVEHYENAIEYDCKEEHAEFVLVRKDMLFNQLIEMALLSLGYSHSSAAQAKGLIQVGKWNPVPLSYVTDAPDATVADMLQDVYHVVTLKIQLHS +CPKLEDLPPEQWSHTTVRNALKDLLKDMNQSSLAKECPLSQSMISSIVNSTYYANVSAAKCQEFGRWYKHFKKTKDMMVEMDSLSELSQQGANHVNFGQQ +PVPGNTAEQPPSPAQLSHGSQPSVRTPLPNLHPGLVSTPISPQLVNQQLVMAQLLNQQYAVNRLLAQQSLNQQYLNHPPPVSRSMNKPLEQQVSTNTEVS +SEIYQWVRDELKRAGISQAVFARVAFNRTQGLLSEILRKEEDPKTASQSLLVNLRAMQNFLQLPEAERDRIYQDERERSLNAASAMGPAPLISTPPSRPP +QVKTATIATERNGKPENNTMNINASIYDEIQQEMKRAKVSQALFAKVAATKSQGWLCELLRWKEDPSPENRTLWENLSMIRRFLSLPQPERDAIYEQESN +AVHHHGDRPPHIIHVPAEQIQQQQQQQQQQQQQQAPPPPQPQQQPQTGPRLPPRQPTVASPAESDEENRQKTRPRTKISVEALGILQSFIQDVGLYPDEE +AIQTLSAQLDLPKYTIIKFFQNQRYYLKHHGKLKDNSGLEVDVAEYKEEELLKDLEESVQDKNTNTLFSVKLEEELSVEGNTDINTDLKD* +>line7086 NM_004624 WILDTYPE +MRPPSPLPARWLCVLAGALAWALGPAGGQAARLQEECDYVQMIEVQHKQCLEEAQLENETIGCSKMWDNLTCWPATPRGQVVVLACPLIFKLFSSIQGRN +VSRSCTDEGWTHLEPGPYPIACGLDDKAASLDEQQTMFYGSVKTGYTIGYGLSLATLLVATAILSLFRKLHCTRNYIHMHLFISFILRAAAVFIKDLALF +DSGESDQCSEGSVGCKAAMVFFQYCVMANFFWLLVEGLYLYTLLAVSFFSERKYFWGYILIGWGVPSTFTMVWTIARIHFEDYGCWDTINSSLWWIIKGP +ILTSILVNFILFICIIRILLQKLRPPDIRKSDSSPYSRLARSTLLLIPLFGVHYIMFAFFPDNFKPEVKMVFELVVGSFQGFVVAILYCFLNGEVQAELR +RKWRRWHLQGVLGWNPKYRHPSGGSNGATCSTQVSMLTRVSPGARRSSSFQAEVSLV* +>line7086 NM_004624 c.87delG p.A30Rfs*12 protein-altering (position 30-457 changed from AARLQEECDYVQMIEVQHKQCLEEAQLENETIGCSKMWDNLTCWPATPRGQVVVLACPLIFKLFSSIQGRNVSRSCTDEGWTHLEPGPYPIACGLDDKAASLDEQQTMFYGSVKTGYTIGYGLSLATLLVATAILSLFRKLHCTRNYIHMHLFISFILRAAAVFIKDLALFDSGESDQCSEGSVGCKAAMVFFQYCVMANFFWLLVEGLYLYTLLAVSFFSERKYFWGYILIGWGVPSTFTMVWTIARIHFEDYGCWDTINSSLWWIIKGPILTSILVNFILFICIIRILLQKLRPPDIRKSDSSPYSRLARSTLLLIPLFGVHYIMFAFFPDNFKPEVKMVFELVVGSFQGFVVAILYCFLNGEVQAELRRKWRRWHLQGVLGWNPKYRHPSGGSNGATCSTQVSMLTRVSPGARRSSSFQAEVSLV to RPGCRRSVTMCR) +MRPPSPLPARWLCVLAGALAWALGPAGGQRPGCRRSVTMCR* +>line7088 NM_005385 WILDTYPE +MGAQDRPQCHFDIEINREPVGRIMFQLFSDICPKTCKNFLCLCSGEKGLGKTTGKKLCYKGSTFHRVVKNFMIQGGDFSEGNGKGGESIYGGYFKDENFI +LKHDRAFLLSMANRGKHTNGSQFFITTKPAPHLDGVHVVFGLVISGFEVIEQIENLKTDAASRPYADVRVIDCGVLATKSIKDVFEKKRKKPTHSEGSDS +SSNSSSSSESSSESELEHERSRRRKHKRRPKVKRSKKRRKEASSSEEPRNKHAMNPKGHSERSDTNEKRSVDSSAKREKPVVRPEEIPPVPENRFLLRRD +MPVVTAEPEPKIPDVAPIVSDQKPSVSKSGRKIKGRGTIRYHTPPRSRSCSESDDDDSSETPPHWKEEMQRLRAYRPPSGEKWSKGDKLSDPCSSRWDER +SLSQRSRSWSYNGYYSDLSTARHSGHHKKRRKEKKVKHKKKGKKQKHCRRHKQTKKRRILIPSDIESSKSSTRRMKSSCDRERSSRSSSLSSHHSSKRDW +SKSDKDVQSSLTHSSRDSYRSKSHSQSYSRGSSRSRTASKSSSHSRSRSKSRSSSKSGHRKRASKSPRKTASQLSENKPVKTEPLRATMAQNENVVVQPV +VAENIPVIPLSDSPPPSRWKPGQKPWKPSYERIQEMKAKTTHLLPIQSTYSLANIKETGSSSSYHKREKNSESDQSTYSKYSDRSSESSPRSRSRSSRSR +SYSRSYTRSRSLASSHSRSRSPSSRSHSRNKYSDHSQCSRSSSYTSISSDDGRRAKRRLRSSGKKNSVSHKKHSSSSEKTLHSKYVKGRDRSSCVRKYSE +SRSSLDYSSDSEQSSVQATQSAQEKEKQGQMERTHNKQEKNRGEEKSKSERECPHSKKRTLKENLSDHLRNGSKPKRKNYAGSKWDSESNSERDVTKNSK +NDSHPSSDKEEGEATSDSESEVSEIHIKVKPTTKSSTNTSLPDDNGAWKSSKQRTSTSDSEGSCSNSENNRGKPQKHKHGSKENLKREHTKKVKEKLKGK +KDKKHKAPKRKQAFHWQPPLEFGEEEEEEIDDKQVTQESKEKKVSENNETIKDNILKTEKSSEEDLSGKHDTVTVSSDLDQFTKDDSKLSISPTALNTEE +NVACLQNIQHVEESVPNGVEDVLQTDDNMEICTPDRSSPAKVEETSPLGNARLDTPDINIVLKQDMATEHPQAEVVKQESSMSESKVLGEVGKQDSSSAS +LASAGESTGKKEVAEKSQINLIDKKWKPLQGVGNLAAPNAATSSAVEVKVLTTVPEMKPQGLRIEIKSKNKVRPGSLFDEVRKTARLNRRPRNQESSSDE +QTPSRDDDSQSRSPSRSRSKSETKSRHRTRSVSYSHSRSRSRSSTSSYRSRSYSRSRSRGWYSRGRTRSRSSSYRSYKSHRTSSRSRSRSSSYDPHSRSR +SYTYDSYYSRSRSRSRSQRSDSYHRGRSYNRRSRSCRSYGSDSESDRSYSHHRSPSESSRYS* +>line7088 NM_005385 c.3073_3075del p.E1029del protein-altering (position 1029 changed from E to ) +MGAQDRPQCHFDIEINREPVGRIMFQLFSDICPKTCKNFLCLCSGEKGLGKTTGKKLCYKGSTFHRVVKNFMIQGGDFSEGNGKGGESIYGGYFKDENFI +LKHDRAFLLSMANRGKHTNGSQFFITTKPAPHLDGVHVVFGLVISGFEVIEQIENLKTDAASRPYADVRVIDCGVLATKSIKDVFEKKRKKPTHSEGSDS +SSNSSSSSESSSESELEHERSRRRKHKRRPKVKRSKKRRKEASSSEEPRNKHAMNPKGHSERSDTNEKRSVDSSAKREKPVVRPEEIPPVPENRFLLRRD +MPVVTAEPEPKIPDVAPIVSDQKPSVSKSGRKIKGRGTIRYHTPPRSRSCSESDDDDSSETPPHWKEEMQRLRAYRPPSGEKWSKGDKLSDPCSSRWDER +SLSQRSRSWSYNGYYSDLSTARHSGHHKKRRKEKKVKHKKKGKKQKHCRRHKQTKKRRILIPSDIESSKSSTRRMKSSCDRERSSRSSSLSSHHSSKRDW +SKSDKDVQSSLTHSSRDSYRSKSHSQSYSRGSSRSRTASKSSSHSRSRSKSRSSSKSGHRKRASKSPRKTASQLSENKPVKTEPLRATMAQNENVVVQPV +VAENIPVIPLSDSPPPSRWKPGQKPWKPSYERIQEMKAKTTHLLPIQSTYSLANIKETGSSSSYHKREKNSESDQSTYSKYSDRSSESSPRSRSRSSRSR +SYSRSYTRSRSLASSHSRSRSPSSRSHSRNKYSDHSQCSRSSSYTSISSDDGRRAKRRLRSSGKKNSVSHKKHSSSSEKTLHSKYVKGRDRSSCVRKYSE +SRSSLDYSSDSEQSSVQATQSAQEKEKQGQMERTHNKQEKNRGEEKSKSERECPHSKKRTLKENLSDHLRNGSKPKRKNYAGSKWDSESNSERDVTKNSK +NDSHPSSDKEEGEATSDSESEVSEIHIKVKPTTKSSTNTSLPDDNGAWKSSKQRTSTSDSEGSCSNSENNRGKPQKHKHGSKENLKREHTKKVKEKLKGK +KDKKHKAPKRKQAFHWQPPLEFGEEEEEIDDKQVTQESKEKKVSENNETIKDNILKTEKSSEEDLSGKHDTVTVSSDLDQFTKDDSKLSISPTALNTEEN +VACLQNIQHVEESVPNGVEDVLQTDDNMEICTPDRSSPAKVEETSPLGNARLDTPDINIVLKQDMATEHPQAEVVKQESSMSESKVLGEVGKQDSSSASL +ASAGESTGKKEVAEKSQINLIDKKWKPLQGVGNLAAPNAATSSAVEVKVLTTVPEMKPQGLRIEIKSKNKVRPGSLFDEVRKTARLNRRPRNQESSSDEQ +TPSRDDDSQSRSPSRSRSKSETKSRHRTRSVSYSHSRSRSRSSTSSYRSRSYSRSRSRGWYSRGRTRSRSSSYRSYKSHRTSSRSRSRSSSYDPHSRSRS +YTYDSYYSRSRSRSRSQRSDSYHRGRSYNRRSRSCRSYGSDSESDRSYSHHRSPSESSRYS* +>line7139 NM_147196 WILDTYPE +MAGWPGAGPLCVLGGAALGVCLAGVAGQLVEPSTAPPKPKPPPLTKETVVFWDMRLWHVVGIFSLFVLSIIITLCCVFNCRVPRTRKEIEARYLQRKAAK +MYTDKLETVPPLNELTEVPGEDKKKKKKKKKDSVDTVAIKVEEDEKNEAKKKKGEK* +>line7139 NM_147196 c.367_369del p.K131del protein-altering (position 131 changed from K to ) +MAGWPGAGPLCVLGGAALGVCLAGVAGQLVEPSTAPPKPKPPPLTKETVVFWDMRLWHVVGIFSLFVLSIIITLCCVFNCRVPRTRKEIEARYLQRKAAK +MYTDKLETVPPLNELTEVPGEDKKKKKKKKDSVDTVAIKVEEDEKNEAKKKKGEK* +>line7180 NM_001349210 WILDTYPE +MSVDMNSQGSDSNEEDYDPNCEEEEEEEEDDPGDIEDYYVGVASDVEQQGADAFDPEEYQFTCLTYKESEGALNEHMTSLASVLKVSHSVAKLILVNFHW +QVSEILDRYKSNSAQLLVEARVQPNPSKHVPTSHPPHHCAVCMQFVRKENLLSLACQHQFCRSCWEQHCSVLVKDGVGVGVSCMAQDCPLRTPEDFVFPL +LPNEELREKYRRYLFRDYVESHYQLQLCPGADCPMVIRVQEPRARRVQCNRCNEVFCFKCRQMYHAPTDCATIRKWLTKCADDSETANYISAHTKDCPKC +NICIEKNGGCNHMQCSKCKHDFCWMCLGDWKTHGSEYYECSRYKENPDIVNQSQQAQAREALKKYLFYFERWENHNKSLQLEAQTYQRIHEKIQERVMNN +LGTWIDWQYLQNAAKLLAKCRYTLQYTYPYAYYMESGPRKKLFEYQQAQLEAEIENLSWKVERADSYDRGDLENQMHIAEQRRRTLLKDFHDT* +>line7180 NM_001349210 c.73_75del p.E29del protein-altering (position 29 changed from E to ) +MSVDMNSQGSDSNEEDYDPNCEEEEEEEDDPGDIEDYYVGVASDVEQQGADAFDPEEYQFTCLTYKESEGALNEHMTSLASVLKVSHSVAKLILVNFHWQ +VSEILDRYKSNSAQLLVEARVQPNPSKHVPTSHPPHHCAVCMQFVRKENLLSLACQHQFCRSCWEQHCSVLVKDGVGVGVSCMAQDCPLRTPEDFVFPLL +PNEELREKYRRYLFRDYVESHYQLQLCPGADCPMVIRVQEPRARRVQCNRCNEVFCFKCRQMYHAPTDCATIRKWLTKCADDSETANYISAHTKDCPKCN +ICIEKNGGCNHMQCSKCKHDFCWMCLGDWKTHGSEYYECSRYKENPDIVNQSQQAQAREALKKYLFYFERWENHNKSLQLEAQTYQRIHEKIQERVMNNL +GTWIDWQYLQNAAKLLAKCRYTLQYTYPYAYYMESGPRKKLFEYQQAQLEAEIENLSWKVERADSYDRGDLENQMHIAEQRRRTLLKDFHDT* +>line7219 NM_000992 WILDTYPE +MAKSKNHTTHNQSRKWHRNGIKKPRSQRYESLKGVDPKFLRNMRFAKKHNKKGLKKMQANNAKAMSARAEAIKALVKPKEVKPKIPKGVSRKLDRLAYIA +HPKLGKRARARIAKGLRLCRPKAKAKAKAKDQTKAQAAAPASVPAQAPKRTQAPTKASE* +>line7219 NM_000992 c.391_392insCCAAGG p.K130_D131insAK protein-altering (position 130-131 has insertion AK) +MAKSKNHTTHNQSRKWHRNGIKKPRSQRYESLKGVDPKFLRNMRFAKKHNKKGLKKMQANNAKAMSARAEAIKALVKPKEVKPKIPKGVSRKLDRLAYIA +HPKLGKRARARIAKGLRLCRPKAKAKAKAKAKDQTKAQAAAPASVPAQAPKRTQAPTKASE* +>line7843 NM_005335 WILDTYPE +MWKSVVGHDVSVSVETQGDDWDTDPDFVNDISEKEQRWGAKTIEGSGRTEHINIHQLRNKVSEEHDVLRKKEMESGPKASHGYGGRFGVERDRMDKSAVG +HEYVAEVEKHSSQTDAAKGFGGKYGVERDRADKSAVGFDYKGEVEKHTSQKDYSRGFGGRYGVEKDKWDKAALGYDYKGETEKHESQRDYAKGFGGQYGI +QKDRVDKSAVGFNEMEAPTTAYKKTTPIEAASSGTRGLKAKFESMAEEKRKREEEEKAQQVARRQQERKAVTKRSPEAPQPVIAMEEPAVPAPLPKKISS +EAWPPVGTPPSSESEPVRTSREHPVPLLPIRQTLPEDNEEPPALPPRTLEGLQVEEEPVYEAEPEPEPEPEPEPENDYEDVEEMDRHEQEDEPEGDYEEV +LEPEDSSFSSALAGSSGCPAGAGAGAVALGISAVAVYDYQGEGSDELSFDPDDVITDIEMVDEGWWRGRCHGHFGLFPANYVKLLE* +>line7843 NM_005335 c.1103_1104insTGAGCCTGAGCC p.E375_N376insPEPE protein-altering (position 375-376 has insertion PEPE) +MWKSVVGHDVSVSVETQGDDWDTDPDFVNDISEKEQRWGAKTIEGSGRTEHINIHQLRNKVSEEHDVLRKKEMESGPKASHGYGGRFGVERDRMDKSAVG +HEYVAEVEKHSSQTDAAKGFGGKYGVERDRADKSAVGFDYKGEVEKHTSQKDYSRGFGGRYGVEKDKWDKAALGYDYKGETEKHESQRDYAKGFGGQYGI +QKDRVDKSAVGFNEMEAPTTAYKKTTPIEAASSGTRGLKAKFESMAEEKRKREEEEKAQQVARRQQERKAVTKRSPEAPQPVIAMEEPAVPAPLPKKISS +EAWPPVGTPPSSESEPVRTSREHPVPLLPIRQTLPEDNEEPPALPPRTLEGLQVEEEPVYEAEPEPEPEPEPEPEPEPENDYEDVEEMDRHEQEDEPEGD +YEEVLEPEDSSFSSALAGSSGCPAGAGAGAVALGISAVAVYDYQGEGSDELSFDPDDVITDIEMVDEGWWRGRCHGHFGLFPANYVKLLE* +>line7964 NM_001276270 WILDTYPE +MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPLLQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFG +KTAGRFDVYFISPQGLKFRSKSSLANYLHKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPPSSSSELQE +SRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETL +SVTSEENSLVKKKERSLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDNNCSPTRKDFTEDTIPR +TQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPL +GLYDLRAKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENHEKLSLS* +>line7964 NM_001276270 c.939delA p.E314Kfs*3 protein-altering (position 314-574 changed from ERSLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDNNCSPTRKDFTEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENHEKLSLS to KDH) +MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPLLQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFG +KTAGRFDVYFISPQGLKFRSKSSLANYLHKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPPSSSSELQE +SRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETL +SVTSEENSLVKKKKDH* +>line8044 NM_001085049 WILDTYPE +MATSAVPSDNLPTYKLVVVGDGGVGKSALTIQFFQKIFVPDYDPTIEDSYLKHTEIDNQWAILDVLDTAGQEEFSAMREQYMRTGDGFLIVYSVTDKASF +EHVDRFHQLILRVKDRESFPMILVANKVDLMHLRKITREQGKEMATKHNIPYIETSAKDPPLNVDKAFHDLVRVIRQQIPEKSQKKKKKTKWRGDRATGT +HKLQCVIL* +>line8044 NM_001085049 c.551_553del p.K189del protein-altering (position 189 changed from K to ) +MATSAVPSDNLPTYKLVVVGDGGVGKSALTIQFFQKIFVPDYDPTIEDSYLKHTEIDNQWAILDVLDTAGQEEFSAMREQYMRTGDGFLIVYSVTDKASF +EHVDRFHQLILRVKDRESFPMILVANKVDLMHLRKITREQGKEMATKHNIPYIETSAKDPPLNVDKAFHDLVRVIRQQIPEKSQKKKKTKWRGDRATGTH +KLQCVIL* +>line8459 NM_198242 WILDTYPE +MNQPPQIAPKRERKTIRIRDPNQGGKDITEEIMSGARTASTPTPPQTGGGLEPQANGETPQVAVIVRPDDRSQGAIIADRPGLPGPEHSPSESQPSSPSP +TPSPSPVLEPGSEPNLAVLSIPGDTMTTIQMSVEESTPISRETGEPYRLSPEPTPLAEPILEVEVTLSKPVPESEFSSSPLQAPTPLASHTVEIHEPNGM +VPSEDLEPEVESSPELAPPPACPSESPVPIAPTAQPEELLNGAPSPPAVDLSPVSEPEEQAKEVTASMAPPTIPSATPATAPSATSPAQEEEMEEEEEEE +EGEAGEAGEAESEKGGEELLPPESTPIPANLSQNLEAAAATQVAVSVPKRRRKIKELNKKEAVGDLLDAFKEANPAVPEVENQPPAGSNPGPESEGSGVP +PRPEEADETWDSKEDKIHNAENIQPGEQKYEYKSDQWKPLNLEEKKRYDREFLLGFQFIFASMQKPEGLPHISDVVLDKANKTPLRPLDPTRLQGINCGP +DFTPSFANLGRTTLSTRGPPRGGPGGELPRGPAGLGPRRSQQGPRKEPRKIIATVLMTEDIKLNKAEKAWKPSSKRTAADKDRGEEDADGSKTQDLFRRV +RSILNKLTPQMFQQLMKQVTQLAIDTEERLKGVIDLIFEKAISEPNFSVAYANMCRCLMALKVPTTEKPTVTVNFRKLLLNRCQKEFEKDKDDDEVFEKK +QKEMDEAATAEERGRLKEELEEARDIARRRSLGNIKFIGELFKLKMLTEAIMHDCVVKLLKNHDEESLECLCRLLTTIGKDLDFEKAKPRMDQYFNQMEK +IIKEKKTSSRIRFMLQDVLDLRGSNWVPRRGDQGPKTIDQIHKEAEMEEHREHIKVQQLMAKGSDKRRGGPPGPPISRGLPLVDDGGWNTVPISKGSRPI +DTSRLTKITKPGSIDSNNQLFAPGGRLSWGKGSSGGSGAKPSDAASEAARPATSTLNRFSALQQAVPTESTDNRRVVQRSSLSRERGEKAGDRGDRLERS +ERGGDRGDRLDRARTPATKRSFSKEVEERSRERPSQPEGLRKAASLTEDRDRGRDAVKREAALPPVSPLKAALSEEELEKKSKAIIEEYLHLNDMKEAVQ +CVQELASPSLLFIFVRHGVESTLERSAIAREHMGQLLHQLLCAGHLSTAQYYQGLYEILELAEDMEIDIPHVWLYLAELVTPILQEGGVPMGELFREITK +PLRPLGKAASLLLEILGLLCKSMGPKKVGTLWREAGLSWKEFLPEGQDIGAFVAEQKVEYTLGEESEAPGQRALPSEELNRQLEKLLKEGSSNQRVFDWI +EANLSEQQIVSNTLVRALMTAVCYSAIIFETPLRVDVAVLKARAKLLQKYLCDEQKELQALYALQALVVTLEQPPNLLRMFFDALYDEDVVKEDAFYSWE +SSKDPAEQQGKGVALKSVTAFFKWLREAEEESDHN* +>line8459 NM_198242 c.903_911del p.G308_A310del protein-altering (position 308-310 changed from GEA to ) +MNQPPQIAPKRERKTIRIRDPNQGGKDITEEIMSGARTASTPTPPQTGGGLEPQANGETPQVAVIVRPDDRSQGAIIADRPGLPGPEHSPSESQPSSPSP +TPSPSPVLEPGSEPNLAVLSIPGDTMTTIQMSVEESTPISRETGEPYRLSPEPTPLAEPILEVEVTLSKPVPESEFSSSPLQAPTPLASHTVEIHEPNGM +VPSEDLEPEVESSPELAPPPACPSESPVPIAPTAQPEELLNGAPSPPAVDLSPVSEPEEQAKEVTASMAPPTIPSATPATAPSATSPAQEEEMEEEEEEE +EGEAGEAESEKGGEELLPPESTPIPANLSQNLEAAAATQVAVSVPKRRRKIKELNKKEAVGDLLDAFKEANPAVPEVENQPPAGSNPGPESEGSGVPPRP +EEADETWDSKEDKIHNAENIQPGEQKYEYKSDQWKPLNLEEKKRYDREFLLGFQFIFASMQKPEGLPHISDVVLDKANKTPLRPLDPTRLQGINCGPDFT +PSFANLGRTTLSTRGPPRGGPGGELPRGPAGLGPRRSQQGPRKEPRKIIATVLMTEDIKLNKAEKAWKPSSKRTAADKDRGEEDADGSKTQDLFRRVRSI +LNKLTPQMFQQLMKQVTQLAIDTEERLKGVIDLIFEKAISEPNFSVAYANMCRCLMALKVPTTEKPTVTVNFRKLLLNRCQKEFEKDKDDDEVFEKKQKE +MDEAATAEERGRLKEELEEARDIARRRSLGNIKFIGELFKLKMLTEAIMHDCVVKLLKNHDEESLECLCRLLTTIGKDLDFEKAKPRMDQYFNQMEKIIK +EKKTSSRIRFMLQDVLDLRGSNWVPRRGDQGPKTIDQIHKEAEMEEHREHIKVQQLMAKGSDKRRGGPPGPPISRGLPLVDDGGWNTVPISKGSRPIDTS +RLTKITKPGSIDSNNQLFAPGGRLSWGKGSSGGSGAKPSDAASEAARPATSTLNRFSALQQAVPTESTDNRRVVQRSSLSRERGEKAGDRGDRLERSERG +GDRGDRLDRARTPATKRSFSKEVEERSRERPSQPEGLRKAASLTEDRDRGRDAVKREAALPPVSPLKAALSEEELEKKSKAIIEEYLHLNDMKEAVQCVQ +ELASPSLLFIFVRHGVESTLERSAIAREHMGQLLHQLLCAGHLSTAQYYQGLYEILELAEDMEIDIPHVWLYLAELVTPILQEGGVPMGELFREITKPLR +PLGKAASLLLEILGLLCKSMGPKKVGTLWREAGLSWKEFLPEGQDIGAFVAEQKVEYTLGEESEAPGQRALPSEELNRQLEKLLKEGSSNQRVFDWIEAN +LSEQQIVSNTLVRALMTAVCYSAIIFETPLRVDVAVLKARAKLLQKYLCDEQKELQALYALQALVVTLEQPPNLLRMFFDALYDEDVVKEDAFYSWESSK +DPAEQQGKGVALKSVTAFFKWLREAEEESDHN* +>line8464 NM_022149 WILDTYPE +MLQTPESRGLPVPQAEGEKDGGHDGETRAPTASQERPKEELGAGREEGAAEPALTRKGARALAAKALARRRAYRRLNRTVAELVQFLLVKDKKKSPITRS +EMVKYVIGDLKILFPDIIARAAEHLRYVFGFELKQFDRKHHTYILINKLKPLEEEEEEDLGGDGPRLGLLMMILGLIYMRGNSAREAQVWEMLRRLGVQP +SKYHFLFGYPKRLIMEDFVQQRYLSYRRVPHTNPPEYEFSWGPRSNLEISKMEVLGFVAKLHKKEPQHWPVQYREALADEADRARAKARAEASMRARASA +RAGIHLW* +>line8464 NM_022149 c.476_477insGGA p.E158_D159insE protein-altering (position 158-159 has insertion E) +MLQTPESRGLPVPQAEGEKDGGHDGETRAPTASQERPKEELGAGREEGAAEPALTRKGARALAAKALARRRAYRRLNRTVAELVQFLLVKDKKKSPITRS +EMVKYVIGDLKILFPDIIARAAEHLRYVFGFELKQFDRKHHTYILINKLKPLEEEEEEEDLGGDGPRLGLLMMILGLIYMRGNSAREAQVWEMLRRLGVQ +PSKYHFLFGYPKRLIMEDFVQQRYLSYRRVPHTNPPEYEFSWGPRSNLEISKMEVLGFVAKLHKKEPQHWPVQYREALADEADRARAKARAEASMRARAS +ARAGIHLW* +>line8626 NM_018406 WILDTYPE +MKGARWRRVPWVSLSCLCLCLLPHVVPGTTEDTLITGSKTAAPVTSTGSTTATLEGQSTAASSRTSNQDISASSQNHQTKSTETTSKAQTDTLTQMMTST +LFSSPSVHNVMETAPPDEMTTSFPSSVTNTLMMTSKTITMTTSTDSTLGNTEETSTAGTESSTPVTSAVSITAGQEGQSRTTSWRTSIQDTSASSQNHWT +RSTQTTRESQTSTLTHRTTSTPSFSPSVHNVTGTVSQKTSPSGETATSSLCSVTNTSMMTSEKITVTTSTGSTLGNPGETSSVPVTGSLMPVTSAALVTF +DPEGQSPATFSRTSTQDTTAFSKNHQTQSVETTRVSQINTLNTLTPVTTSTVLSSPSGFNPSGTVSQETFPSGETTTSSPSSVSNTFLVTSKVFRMPTSR +DSTLGNTEETSLSVSGTISAITSKVSTIWWSDTLSTALSPSSLPPKISTAFHTQQSEGAETTGRPHERSSFSPGVSQEIFTLHETTTWPSSFSSKGHTTW +SQTELPSTSTGAATRLVTGNPSTGTAGTIPRVPSKVSAIGEPGEPTTYSSHSTTLPKTTGAGAQTQWTQETGTTGEALLSSPSYSVTQMIKTATSPSSSP +MLDRHTSQQITTAPSTNHSTIHSTSTSPQESPAVSQRGHTQAPQTTQESQTTRSVSPMTDTKTVTTPGSSFTASGHSPSEIVPQDAPTISAATTFAPAPT +GDGHTTQAPTTALQAAPSSHDATLGPSGGTSLSKTGALTLANSVVSTPGGPEGQWTSASASTSPDTAAAMTHTHQAESTEASGQTQTSEPASSGSRTTSA +GTATPSSSGASGTTPSGSEGISTSGETTRFSSNPSRDSHTTQSTTELLSASASHGAIPVSTGMASSIVPGTFHPTLSEASTAGRPTGQSSPTSPSASPQE +TAAISRMAQTQRTRTSRGSDTISLASQATDTFSTVPPTPPSITSTGLTSPQTETHTLSPSGSGKTFTTALISNATPLPVTYASSASTGHTTPLHVTDASS +VSTGHATPLPVTSPSSVSTGHTTPLPVTDTSSESTGHVTPLPVTSFSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTG +HATSLPVTDTSSVSTGHTTPLPVTDTSSASTGHATSLPVTDTSSVSTGHTTPLHVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATP +LLVTDTSSASTGHATPLPVTDASSVSTDHATSLPVTIPSAASTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVT +SPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLHVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSS +ASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTDHATSLPVTIPSAASTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTG +HVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTP +LPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTGLSSATTDDTTRLPVT +DVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSS +ASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTG +DTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATP +LPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTNPSSASTGHATPLLVTDASSISTGHATSLLVT +DASSVSTGHATALHDTDASSLSTGDTTPLPVTSPSSTSTGDTTPLPVTETSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSS +ASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTG +HATPLHVTDASSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSSSSASSGHTTPLPVTDASSASTGDTTP +LPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVT +SPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATSLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTYS +ASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTG +DTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSVSTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTP +LPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLT +SLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATLLPVTDTSS +ASIGHATSLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTG +DTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATP +LLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVT +ETSSVSTGHATPLLVTDASSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSS +VSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTG +DTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATP +LPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVT +IPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSASTGHVTPLPVTSTSSASTGHATPLLVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTDTSS +ASTGQATPLPVTSLSSVSTGDTTPLPVTDASSASTGHATPLPVTIPSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTR +HATPLPVTDTSSASTDDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPVTDTSSVSTGHATSLPVTSRSSASTGHATPLPVTDTSSVSTGHATP +LPVTSTSSVSTGHATPLPVTSPSSASTGHATPVPVTSTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASRGDTSTLPVTDASSASTGHATPLPLT +SLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDASSVSTGHGTPLPVTSTSSASTGDTTPLPVTDTSS +ASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETPGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMH +TRSTAAPIPILPERGVSLFPYGAGAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWD +DADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRS +GNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIG +RWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTF +NGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEV +SASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQ +KNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTL +LWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPN +LTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLG +TLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYF +RCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGAR +FSYFLNSAEALP* +>line8626 NM_018406 c.338_339insTGTTACGCAGGAGAC p.T113_A114insVTQET protein-altering (position 113-114 has insertion VTQET) +MKGARWRRVPWVSLSCLCLCLLPHVVPGTTEDTLITGSKTAAPVTSTGSTTATLEGQSTAASSRTSNQDISASSQNHQTKSTETTSKAQTDTLTQMMTST +LFSSPSVHNVMETVTQETAPPDEMTTSFPSSVTNTLMMTSKTITMTTSTDSTLGNTEETSTAGTESSTPVTSAVSITAGQEGQSRTTSWRTSIQDTSASS +QNHWTRSTQTTRESQTSTLTHRTTSTPSFSPSVHNVTGTVSQKTSPSGETATSSLCSVTNTSMMTSEKITVTTSTGSTLGNPGETSSVPVTGSLMPVTSA +ALVTFDPEGQSPATFSRTSTQDTTAFSKNHQTQSVETTRVSQINTLNTLTPVTTSTVLSSPSGFNPSGTVSQETFPSGETTTSSPSSVSNTFLVTSKVFR +MPTSRDSTLGNTEETSLSVSGTISAITSKVSTIWWSDTLSTALSPSSLPPKISTAFHTQQSEGAETTGRPHERSSFSPGVSQEIFTLHETTTWPSSFSSK +GHTTWSQTELPSTSTGAATRLVTGNPSTGTAGTIPRVPSKVSAIGEPGEPTTYSSHSTTLPKTTGAGAQTQWTQETGTTGEALLSSPSYSVTQMIKTATS +PSSSPMLDRHTSQQITTAPSTNHSTIHSTSTSPQESPAVSQRGHTQAPQTTQESQTTRSVSPMTDTKTVTTPGSSFTASGHSPSEIVPQDAPTISAATTF +APAPTGDGHTTQAPTTALQAAPSSHDATLGPSGGTSLSKTGALTLANSVVSTPGGPEGQWTSASASTSPDTAAAMTHTHQAESTEASGQTQTSEPASSGS +RTTSAGTATPSSSGASGTTPSGSEGISTSGETTRFSSNPSRDSHTTQSTTELLSASASHGAIPVSTGMASSIVPGTFHPTLSEASTAGRPTGQSSPTSPS +ASPQETAAISRMAQTQRTRTSRGSDTISLASQATDTFSTVPPTPPSITSTGLTSPQTETHTLSPSGSGKTFTTALISNATPLPVTYASSASTGHTTPLHV +TDASSVSTGHATPLPVTSPSSVSTGHTTPLPVTDTSSESTGHVTPLPVTSFSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTS +SASTGHATSLPVTDTSSVSTGHTTPLPVTDTSSASTGHATSLPVTDTSSVSTGHTTPLHVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSAST +GHATPLLVTDTSSASTGHATPLPVTDASSVSTDHATSLPVTIPSAASTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVT +PLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLHVTDASSASTGQATPLPVTSLSSVSTGDTTPLPV +TSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTDHATSLPVTIPSAASTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTS +SASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASK +GDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTGLSSATTDDTT +RLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPV +TDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTN +SASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVST +GHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTNPSSASTGHATPLLVTDASSISTGHAT +SLLVTDASSVSTGHATALHDTDASSLSTGDTTPLPVTSPSSTSTGDTTPLPVTETSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPV +TDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPS +SASTGHATPLHVTDASSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSSSSASSGHTTPLPVTDASSAST +GDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTT +RLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATSLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPV +TDTYSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTS +SASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSVSTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSAST +GHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHAT +PLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATLLPV +TDTSSASIGHATSLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLS +SVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSAST +GHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTT +PLLVTETSSVSTGHATPLLVTDASSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPV +TNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPS +SASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVST +GHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQAT +PLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSASTGHVTPLPVTSTSSASTGHATPLLVTDASSVSTGHATPLPVTDASSASTGDTTPLPV +TDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDASSASTGHATPLPVTIPSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTS +SASTRHATPLPVTDTSSASTDDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPVTDTSSVSTGHATSLPVTSRSSASTGHATPLPVTDTSSVST +GHATPLPVTSTSSVSTGHATPLPVTSPSSASTGHATPVPVTSTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASRGDTSTLPVTDASSASTGHAT +PLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDASSVSTGHGTPLPVTSTSSASTGDTTPLPV +TDTSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETPGMTTPSLKTDGGRRTATSPPPTTSQTIISTIP +STAMHTRSTAAPIPILPERGVSLFPYGAGAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALV +APFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWD +VAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQ +PVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDG +VSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSR +NGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVF +YSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELF +ENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCE +ACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASV +AYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVST +LKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWG +CSGARFSYFLNSAEALP* +>line9306 NM_020722 WILDTYPE +MGTRAFSHDSIFIPDGGAESEQTVQAMSQDNILGKVKTLQQQLGKNIKFGQRSPNAIPMNKANSGEASLEEDLFLTSPMEIVTQQDIVLSDAENKSSDTP +SSLSPLNLPGAGSEMEEKVAPVKPSRPKRHFSSAGTIESVNLDAIPLAIARLDNSAAKHKLAVKPKKQRVSKKHRRLAQDPQHEQGGLESRPCLDQNGHP +GEDKPTWHEEEPNPLDSEEERRRQEDYWRELEAKCKRQKAEAAEKRRLEEQRLQALERRLWEENRRQELLEEEGEGQEPPLEAERAPREEQQRSLEAPGW +EDAERREREERERLEAEEERRRLQAQAQAEERRRLEEDARLEERRRQEEEEGRCAEELKRQEEEEAEGWEELEQQEAEVQGPPEALEETGEGRRGAEEED +LGEEEEEGQAHLEDWRGQLSELLNDFEERLEDQERLKPEGQREHSEEPGICEEQNPEAERRREQQGRSGDFQGADRPGPEEKREEGDTEPLLKQEGPVEA +AQPPVERKEAAALEQGRKVEELRWQEVDERQTMPRPYTFQVSSGGKQILFPKVNLSPVTPAKDTGLTAAPQEPKAPKASPVQHALPSSLSVPHTAILVTG +AQLCGPAVNLSQIKDTACKSLLGLEEKKHAEAPAGENPPRGPGDARAGSGKAKPRQESPSSASALAEWASIRSRILKNAESDPRSSERDQLRPGDESTPR +GRCDSRGNQRKTPPVNAKFSIMPAWQKFSDGGTETSKQSTEAESIRKRPMLGPSEETAPQPPPAGVRELGKGPEKSEMHREPADTTEGCKFAKDLPSFLV +PSLPYPPQKVVAHTEFTTSSDSETANGIAKPDPVMPGGEEKASPFGIKLRRTNYSLRFNCDQQAEQKKKKRHSSTGDSADAGPPAAGSARGEKEMEGVAL +KHGPSLPQERKQAPSTRRDSAEPSSSRSVPVAHPGPPPASSQTPAPEHDKAANKMPLAQKPALAPKPTSQTPPASPLSKLSRPYLVELLSRRAGRPDPEP +SEPSKEDQESSDRRPPSPPGPEERKGQKRDEEEEATERKPASPPLPATQQEKPSQTPEAGRKEKPMLQSRHSLDGSKLTEKVETAQPLWITLALQKQKGF +REQQATREERKQAREAKQAEKLSKENVSVSVQPGSSSVSRAGSLHKSTALPEEKRPETAVSRLERREQLKKANTLPTSVTVEISDSAPPAPLVKEVTKRF +STPDAAPVSTEPAWLALAKRKAKAWSDCPQIIK* +>line9306 NM_020722 c.2597_2599del p.K870del protein-altering (position 870 changed from K to ) +MGTRAFSHDSIFIPDGGAESEQTVQAMSQDNILGKVKTLQQQLGKNIKFGQRSPNAIPMNKANSGEASLEEDLFLTSPMEIVTQQDIVLSDAENKSSDTP +SSLSPLNLPGAGSEMEEKVAPVKPSRPKRHFSSAGTIESVNLDAIPLAIARLDNSAAKHKLAVKPKKQRVSKKHRRLAQDPQHEQGGLESRPCLDQNGHP +GEDKPTWHEEEPNPLDSEEERRRQEDYWRELEAKCKRQKAEAAEKRRLEEQRLQALERRLWEENRRQELLEEEGEGQEPPLEAERAPREEQQRSLEAPGW +EDAERREREERERLEAEEERRRLQAQAQAEERRRLEEDARLEERRRQEEEEGRCAEELKRQEEEEAEGWEELEQQEAEVQGPPEALEETGEGRRGAEEED +LGEEEEEGQAHLEDWRGQLSELLNDFEERLEDQERLKPEGQREHSEEPGICEEQNPEAERRREQQGRSGDFQGADRPGPEEKREEGDTEPLLKQEGPVEA +AQPPVERKEAAALEQGRKVEELRWQEVDERQTMPRPYTFQVSSGGKQILFPKVNLSPVTPAKDTGLTAAPQEPKAPKASPVQHALPSSLSVPHTAILVTG +AQLCGPAVNLSQIKDTACKSLLGLEEKKHAEAPAGENPPRGPGDARAGSGKAKPRQESPSSASALAEWASIRSRILKNAESDPRSSERDQLRPGDESTPR +GRCDSRGNQRKTPPVNAKFSIMPAWQKFSDGGTETSKQSTEAESIRKRPMLGPSEETAPQPPPAGVRELGKGPEKSEMHREPADTTEGCKFAKDLPSFLV +PSLPYPPQKVVAHTEFTTSSDSETANGIAKPDPVMPGGEEKASPFGIKLRRTNYSLRFNCDQQAEQKKKRHSSTGDSADAGPPAAGSARGEKEMEGVALK +HGPSLPQERKQAPSTRRDSAEPSSSRSVPVAHPGPPPASSQTPAPEHDKAANKMPLAQKPALAPKPTSQTPPASPLSKLSRPYLVELLSRRAGRPDPEPS +EPSKEDQESSDRRPPSPPGPEERKGQKRDEEEEATERKPASPPLPATQQEKPSQTPEAGRKEKPMLQSRHSLDGSKLTEKVETAQPLWITLALQKQKGFR +EQQATREERKQAREAKQAEKLSKENVSVSVQPGSSSVSRAGSLHKSTALPEEKRPETAVSRLERREQLKKANTLPTSVTVEISDSAPPAPLVKEVTKRFS +TPDAAPVSTEPAWLALAKRKAKAWSDCPQIIK* +>line9677 NM_014208 WILDTYPE +MKIITYFCIWAVAWAIPVPQSKPLERHVEKSMNLHLLARSNVSVQDELNASGTIKESGVLVHEGDRGRQENTQDGHKGEGNGSKWAEVGGKSFSTYSTLA +NEEGNIEGWNGDTGKAETYGHDGIHGKEENITANGIQGQVSIIDNAGATNRSNTNGNTDKNTQNGDVGDAGHNEDVAVVQEDGPQVAGSNNSTDNEDEII +ENSCRNEGNTSEITPQINSKRNGTKEAEVTPGTGEDAGLDNSDGSPSGNGADEDEDEGSGDDEDEEAGNGKDSSNNSKGQEGQDHGKEDDHDSSIGQNSD +SKEYYDPEGKEDPHNEVDGDKTSKSEENSAGIPEDNGSQRIEDTQKLNHRESKRVENRITKESETHAVGKSQDKGIEIKGPSSGNRNITKEVGKGNEGKE +DKGQHGMILGKGNVKTQGEVVNIEGPGQKSEPGNKVGHSNTGSDSNSDGYDSYDFDDKSMQGDDPNSSDESNGNDDANSESDNNSSSRGDASYNSDESKD +NGNGSDSKGAEDDDSDSTSDTNNSDSNGNGNNGNDDNDKSDSGKGKSDSSDSDSSDSSNSSDSSDSSDSDSSDSNSSSDSDSSDSDSSDSSDSDSSDSSN +SSDSSDSSDSSDSSDSSDSSDSKSDSSKSESDSSDSDSKSDSSDSNSSDSSDNSDSSDSSNSSNSSDSSDSSDSSDSSSSSDSSNSSDSSDSSDSSNSSE +SSDSSDSSDSDSSDSSDSSNSNSSDSDSSNSSDSSDSSNSSDSSDSSDSSNSSDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDSNDSSNSSDSSDSSNS +SDSSNSSDSSDSSDSSDSDSSNSSDSSNSSDSSDSSNSSDSSDSSDSSDGSDSDSSNRSDSSNSSDSSDSSDSSNSSDSSDSSDSNESSNSSDSSDSSNS +SDSDSSDSSNSSDSSDSSNSSDSSESSNSSDNSNSSDSSNSSDSSDSSDSSNSSDSSNSSDSSNSSDSSDSNSSDSSDSSNSSDSSDSSDSSDSSDSSDS +SNSSDSSDSSDSSDSSNSSDSSNSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSESSDSSDSSNSSDSSDSS +DSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDSSDSSESSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSD +SSDSSDSSDSSDSSDSSDSSDSSDSSDSSDSNESSDSSDSSDSSDSSNSSDSSDSSDSSDSTSDSNDESDSQSKSGNGNNNGSDSDSDSEGSDSNHSTSD +D* +>line9677 NM_014208 c.2054_2055GT p.N685S protein-altering (position 685 changed from N to S) +MKIITYFCIWAVAWAIPVPQSKPLERHVEKSMNLHLLARSNVSVQDELNASGTIKESGVLVHEGDRGRQENTQDGHKGEGNGSKWAEVGGKSFSTYSTLA +NEEGNIEGWNGDTGKAETYGHDGIHGKEENITANGIQGQVSIIDNAGATNRSNTNGNTDKNTQNGDVGDAGHNEDVAVVQEDGPQVAGSNNSTDNEDEII +ENSCRNEGNTSEITPQINSKRNGTKEAEVTPGTGEDAGLDNSDGSPSGNGADEDEDEGSGDDEDEEAGNGKDSSNNSKGQEGQDHGKEDDHDSSIGQNSD +SKEYYDPEGKEDPHNEVDGDKTSKSEENSAGIPEDNGSQRIEDTQKLNHRESKRVENRITKESETHAVGKSQDKGIEIKGPSSGNRNITKEVGKGNEGKE +DKGQHGMILGKGNVKTQGEVVNIEGPGQKSEPGNKVGHSNTGSDSNSDGYDSYDFDDKSMQGDDPNSSDESNGNDDANSESDNNSSSRGDASYNSDESKD +NGNGSDSKGAEDDDSDSTSDTNNSDSNGNGNNGNDDNDKSDSGKGKSDSSDSDSSDSSNSSDSSDSSDSDSSDSNSSSDSDSSDSDSSDSSDSDSSDSSN +SSDSSDSSDSSDSSDSSDSSDSKSDSSKSESDSSDSDSKSDSSDSNSSDSSDNSDSSDSSNSSNSSDSSDSSDSSDSSSSSDSSSSSDSSDSSDSSNSSE +SSDSSDSSDSDSSDSSDSSNSNSSDSDSSNSSDSSDSSNSSDSSDSSDSSNSSDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDSNDSSNSSDSSDSSNS +SDSSNSSDSSDSSDSSDSDSSNSSDSSNSSDSSDSSNSSDSSDSSDSSDGSDSDSSNRSDSSNSSDSSDSSDSSNSSDSSDSSDSNESSNSSDSSDSSNS +SDSDSSDSSNSSDSSDSSNSSDSSESSNSSDNSNSSDSSNSSDSSDSSDSSNSSDSSNSSDSSNSSDSSDSNSSDSSDSSNSSDSSDSSDSSDSSDSSDS +SNSSDSSDSSDSSDSSNSSDSSNSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSESSDSSDSSNSSDSSDSS +DSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDSSDSSESSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSD +SSDSSDSSDSSDSSDSSDSSDSSDSSDSSDSNESSDSSDSSDSSDSSNSSDSSDSSDSSDSTSDSNDESDSQSKSGNGNNNGSDSDSDSEGSDSNHSTSD +D* +>line9684 NM_000297 WILDTYPE +MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPGGLCEQRGLEIEMQRIRQAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEE +EEVEGEEGGMVVEMDVEWRPGSRRSAASSAVSSVGARSRGLGGYHGAGHPSGRRRRREDQGPPCPSPVGGGDPLHRHLPLEGQPPRVAWAERLVRGLRGL +WGTRLMEESSTNREKYLKSVLRELVTYLLFLIVLCILTYGMMSSNVYYYTRMMSQLFLDTPVSKTEKTNFKTLSSMEDFWKFTEGSLLDGLYWKMQPSNQ +TEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIPQDLRDEIKECYDVYSVSSEDRAPFGPRNGTAWIYTSEKDLNGSSHWGIIATYSGAGYYLDLSRTRE +ETAAQVASLKKNVWLDRGTRATFIDFSVYNANINLFCVVRLLVEFPATGGVIPSWQFQPLKLIRYVTTFDFFLAACEIIFCFFIFYYVVEEILEIRIHKL +HYFRSFWNCLDVVIVVLSVVAIGINIYRTSNVEVLLQFLEDQNTFPNFEHLAYWQIQFNNIAAVTVFFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGF +AIMFFIIFLAYAQLAYLVFGTQVDDFSTFQECIFTQFRIILGDINFAEIEEANRVLGPIYFTTFVFFMFFILLNMFLAIINDTYSEVKSDLAQQKAEMEL +SDLIRKGYHKALVKLKLKKNTVDDISESLRQGGGKLNFDELRQDLKGKGHTDAEIEAIFTKYDQDGDQELTEHEHQQMRDDLEKEREDLDLDHSSLPRPM +SSRSFPRSLDDSEEDDDEDSGHSSRRRGSISSGVSYEEFQVLVRRVDRMEHSIGSIVSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEI +HREQMERLVREELERWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQSTEGMEGAGGNGSSNVHV* +>line9684 NM_000297 c.289_291del p.E102del protein-altering (position 102 changed from E to ) +MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPGGLCEQRGLEIEMQRIRQAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEE +EVEGEEGGMVVEMDVEWRPGSRRSAASSAVSSVGARSRGLGGYHGAGHPSGRRRRREDQGPPCPSPVGGGDPLHRHLPLEGQPPRVAWAERLVRGLRGLW +GTRLMEESSTNREKYLKSVLRELVTYLLFLIVLCILTYGMMSSNVYYYTRMMSQLFLDTPVSKTEKTNFKTLSSMEDFWKFTEGSLLDGLYWKMQPSNQT +EADNRSFIFYENLLLGVPRIRQLRVRNGSCSIPQDLRDEIKECYDVYSVSSEDRAPFGPRNGTAWIYTSEKDLNGSSHWGIIATYSGAGYYLDLSRTREE +TAAQVASLKKNVWLDRGTRATFIDFSVYNANINLFCVVRLLVEFPATGGVIPSWQFQPLKLIRYVTTFDFFLAACEIIFCFFIFYYVVEEILEIRIHKLH +YFRSFWNCLDVVIVVLSVVAIGINIYRTSNVEVLLQFLEDQNTFPNFEHLAYWQIQFNNIAAVTVFFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGFA +IMFFIIFLAYAQLAYLVFGTQVDDFSTFQECIFTQFRIILGDINFAEIEEANRVLGPIYFTTFVFFMFFILLNMFLAIINDTYSEVKSDLAQQKAEMELS +DLIRKGYHKALVKLKLKKNTVDDISESLRQGGGKLNFDELRQDLKGKGHTDAEIEAIFTKYDQDGDQELTEHEHQQMRDDLEKEREDLDLDHSSLPRPMS +SRSFPRSLDDSEEDDDEDSGHSSRRRGSISSGVSYEEFQVLVRRVDRMEHSIGSIVSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEIH +REQMERLVREELERWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQSTEGMEGAGGNGSSNVHV* +>line10219 NM_001040260 WILDTYPE +MASTRSIELEHFEERDKRPRPGSRRGAPSSSGGSSSSGPKGNGLIPSPAHSAHCSFYRTRTLQALSSEKKAKKARFYRNGDRYFKGLVFAISSDRFRSFD +ALLIELTRSLSDNVNLPQGVRTIYTIDGSRKVTSLDELLEGESYVCASNEPFRKVDYTKNINPNWSVNIKGGTSRALAAASSVKSEVKESKDFIKPKLVT +VIRSGVKPRKAVRILLNKKTAHSFEQVLTDITEAIKLDSGVVKRLCTLDGKQVTCLQDFFGDDDVFIACGPEKFRYAQDDFVLDHSECRVLKSSYSRSSA +VKYSGSKSPGPSRRSKSPASVNGTPSSQLSTPKSTKSSSSSPTSPGSFRGLKQISAHGRSSSNVNGGPELDRCISPEGVNGNRCSESSTLLEKYKIGKVI +GDGNFAVVKECIDRSTGKEFALKIIDKAKCCGKEHLIENEVSILRRVKHPNIIMLVEEMETATELFLVMELVKGGDLFDAITSSTKYTERDGSAMVYNLA +NALRYLHGLSIVHRDIKPENLLVCEYPDGTKSLKLGDFGLATVVEGPLYTVCGTPTYVAPEIIAETGYGLKVDIWAAGVITYILLCGFPPFRSENNLQED +LFDQILAGKLEFPAPYWDNITDSAKELISQMLQVNVEARCTAGQILSHPWVSDDASQENNMQAEVTGKLKQHFNNALPKQNSTTTGVSVIMNTALDKEGQ +IFCSKHCQDSGRPGMEPISPVPPSVEEIPVPGEAVPAPTPPESPTPHPPPAAPGGERAGTWRRHRD* +>line10219 NM_001040260 c.2242_2243TG p.P748C protein-altering (position 748 changed from P to C) +MASTRSIELEHFEERDKRPRPGSRRGAPSSSGGSSSSGPKGNGLIPSPAHSAHCSFYRTRTLQALSSEKKAKKARFYRNGDRYFKGLVFAISSDRFRSFD +ALLIELTRSLSDNVNLPQGVRTIYTIDGSRKVTSLDELLEGESYVCASNEPFRKVDYTKNINPNWSVNIKGGTSRALAAASSVKSEVKESKDFIKPKLVT +VIRSGVKPRKAVRILLNKKTAHSFEQVLTDITEAIKLDSGVVKRLCTLDGKQVTCLQDFFGDDDVFIACGPEKFRYAQDDFVLDHSECRVLKSSYSRSSA +VKYSGSKSPGPSRRSKSPASVNGTPSSQLSTPKSTKSSSSSPTSPGSFRGLKQISAHGRSSSNVNGGPELDRCISPEGVNGNRCSESSTLLEKYKIGKVI +GDGNFAVVKECIDRSTGKEFALKIIDKAKCCGKEHLIENEVSILRRVKHPNIIMLVEEMETATELFLVMELVKGGDLFDAITSSTKYTERDGSAMVYNLA +NALRYLHGLSIVHRDIKPENLLVCEYPDGTKSLKLGDFGLATVVEGPLYTVCGTPTYVAPEIIAETGYGLKVDIWAAGVITYILLCGFPPFRSENNLQED +LFDQILAGKLEFPAPYWDNITDSAKELISQMLQVNVEARCTAGQILSHPWVSDDASQENNMQAEVTGKLKQHFNNALPKQNSTTTGVSVIMNTALDKEGQ +IFCSKHCQDSGRPGMEPISPVPPSVEEIPVPGEAVPAPTPPESPTPHCPPAAPGGERAGTWRRHRD* +>line10231 NM_183375 WILDTYPE +MGPAGCAFTLLLLLGISVCGQPVYSSRVVGGQDAAAGRWPWQVSLHFDHNFICGGSLVSERLILTAAHCIQPTWTTFSYTVWLGSITVGDSRKRVKYYVS +KIVIHPKYQDTTADVALLKLSSQVTFTSAILPICLPSVTKQLAIPPFCWVTGWGKVKESSDRDYHSALQEAEVPIIDRQACEQLYNPIGIFLPALEPVIK +EDKICAGDTQNMKDSCKGDSGGPLSCHIDGVWIQTGVVSWGLECGKSLPGVYTNVIYYQKWINATISRANNLDFSDFLFPIVLLSLALLRPSCAFGPNTI +HRVGTVAEAVACIQGWEENAWRFSPRGR* +>line10231 NM_183375 c.123_124insCAGGT p.S44Rfs*20 protein-altering (position 44-328 changed from SLHFDHNFICGGSLVSERLILTAAHCIQPTWTTFSYTVWLGSITVGDSRKRVKYYVSKIVIHPKYQDTTADVALLKLSSQVTFTSAILPICLPSVTKQLAIPPFCWVTGWGKVKESSDRDYHSALQEAEVPIIDRQACEQLYNPIGIFLPALEPVIKEDKICAGDTQNMKDSCKGDSGGPLSCHIDGVWIQTGVVSWGLECGKSLPGVYTNVIYYQKWINATISRANNLDFSDFLFPIVLLSLALLRPSCAFGPNTIHRVGTVAEAVACIQGWEENAWRFSPRGR to RSAYTLTTTLSVEVPSSVRG) +MGPAGCAFTLLLLLGISVCGQPVYSSRVVGGQDAAAGRWPWQVRSAYTLTTTLSVEVPSSVRG* +>line10302 NM_005038 WILDTYPE +MSHPSPQAKPSNPSNPRVFFDVDIGGERVGRIVLELFADIVPKTAENFRALCTGEKGIGHTTGKPLHFKGCPFHRIIKKFMIQGGDFSNQNGTGGESIYG +EKFEDENFHYKHDREGLLSMANAGRNTNGSQFFITTVPTPHLDGKHVVFGQVIKGIGVARILENVEVKGEKPAKLCVIAECGELKEGDDGGIFPKDGSGD +SHPDFPEDADIDLKDVDKILLITEDLKNIGNTFFKSQNWEMAIKKYAEVLRYVDSSKAVIETADRAKLQPIALSCVLNIGACKLKMSNWQGAIDSCLEAL +ELDPSNTKALYRRAQGWQGLKEYDQALADLKKAQGIAPEDKAIQAELLKVKQKIKAQKDKEKAVYAKMFA* +>line10302 NM_005038 c.437_438del p.H146Rfs*7 protein-altering (position 146-370 changed from HVVFGQVIKGIGVARILENVEVKGEKPAKLCVIAECGELKEGDDGGIFPKDGSGDSHPDFPEDADIDLKDVDKILLITEDLKNIGNTFFKSQNWEMAIKKYAEVLRYVDSSKAVIETADRAKLQPIALSCVLNIGACKLKMSNWQGAIDSCLEALELDPSNTKALYRRAQGWQGLKEYDQALADLKKAQGIAPEDKAIQAELLKVKQKIKAQKDKEKAVYAKMFA to RGVWPSN) +MSHPSPQAKPSNPSNPRVFFDVDIGGERVGRIVLELFADIVPKTAENFRALCTGEKGIGHTTGKPLHFKGCPFHRIIKKFMIQGGDFSNQNGTGGESIYG +EKFEDENFHYKHDREGLLSMANAGRNTNGSQFFITTVPTPHLDGKRGVWPSN* +>line10353 NM_012403 WILDTYPE +MEMGRRIHSELRNRAPSDVKELALDNSRSNEGKLEALTDEFEELEFLSKINGGLTSISDLPKLKLRKLELRVSGGLEVLAEKCPNLTHLYLSGNKIKDLS +TIEPLKQLENLKSLDLFNCEVTNLNDYGENVFKLLLQLTYLDSCYWDHKEAPYSDIEDHVEGLDDEEEGEHEEEYDEDAQVVEDEEGEEEEEEGEEEDVS +GGDEEDEEGYNDGEVDGEEDEEELGEEERGQKRK* +>line10353 NM_012403 c.576_578del p.E193del protein-altering (position 193 changed from E to ) +MEMGRRIHSELRNRAPSDVKELALDNSRSNEGKLEALTDEFEELEFLSKINGGLTSISDLPKLKLRKLELRVSGGLEVLAEKCPNLTHLYLSGNKIKDLS +TIEPLKQLENLKSLDLFNCEVTNLNDYGENVFKLLLQLTYLDSCYWDHKEAPYSDIEDHVEGLDDEEEGEHEEEYDEDAQVVEDEEGEEEEEGEEEDVSG +GDEEDEEGYNDGEVDGEEDEEELGEEERGQKRK* +>line10464 NM_005429 WILDTYPE +MHLLGFFSVACSLLAAALLPGPREAPAAAAAFESGLDLSDAEPDAGEATAYASKDLEEQLRSVSSVDELMTVLYPEYWKMYKCQLRKGGWQHNREQANLN +SRTEETIKFAAAHYNTEILKSIDNEWRKTQCMPREVCIDVGKEFGVATNTFFKPPCVSVYRCGGCCNSEGLQCMNTSTSYLSKTLFEITVPLSQGPKPVT +ISFANHTSCRCMSKLDVYRQVHSIIRRSLPATLPQCQAANKTCPTNYMWNNHICRCLAQEDFMFSSDAGDDSTDGFHDICGPNKELDEETCQCVCRAGLR +PASCGPHKELDRNSCQCVCKNKLFPSQCGANREFDENTCQCVCKRTCPRNQPLNPGKCACECTESPQKCLLKGKKFHHQTCSCYRRPCTNRQKACEPGFS +YSEEVCRCVPSYWKRPQMMS* +>line10464 NM_005429 c.1256_1258del p.M419del protein-altering (position 419 changed from M to ) +MHLLGFFSVACSLLAAALLPGPREAPAAAAAFESGLDLSDAEPDAGEATAYASKDLEEQLRSVSSVDELMTVLYPEYWKMYKCQLRKGGWQHNREQANLN +SRTEETIKFAAAHYNTEILKSIDNEWRKTQCMPREVCIDVGKEFGVATNTFFKPPCVSVYRCGGCCNSEGLQCMNTSTSYLSKTLFEITVPLSQGPKPVT +ISFANHTSCRCMSKLDVYRQVHSIIRRSLPATLPQCQAANKTCPTNYMWNNHICRCLAQEDFMFSSDAGDDSTDGFHDICGPNKELDEETCQCVCRAGLR +PASCGPHKELDRNSCQCVCKNKLFPSQCGANREFDENTCQCVCKRTCPRNQPLNPGKCACECTESPQKCLLKGKKFHHQTCSCYRRPCTNRQKACEPGFS +YSEEVCRCVPSYWKRPQMS* +>line11271 NM_020546 WILDTYPE +MWQEAMRRRRYLRDRSEEAAGGGDGLPRSRDWLYESYYCMSQQHPLIVFLLLIVMGSCLALLAVFFALGLEVEDHVAFLITVPTALAIFFAIFILVCIES +VFKKLLRLFSLVIWICLVAMGYLFMCFGGTVSPWDQVSFFLFIIFVVYTMLPFNMRDAIIASVLTSSSHTIVLSVCLSATPGGKEHLVWQILANVIIFIC +GNLAGAYHKHLMELALQQTYQDTCNCIKSRIKLEFEKRQQERLLLSLLPAHIAMEMKAEIIQRLQGPKAGQMENTNNFHNLYVKRHTNVSILYADIVGFT +RLASDCSPGELVHMLNELFGKFDQIAKENECMRIKILGDCYYCVSGLPISLPNHAKNCVKMGLDMCEAIKKVRDATGVDINMRVGVHSGNVLCGVIGLQK +WQYDVWSHDVTLANHMEAGGVPGRVHISSVTLEHLNGAYKVEEGDGDIRDPYLKQHLVKTYFVINPKGERRSPQHLFRPRHTLDGAKMRASVRMTRYLES +WGAAKPFAHLHHRDSMTTENGKISTTDVPMGQHNFQNRTLRTKSQKKRFEEELNERMIQAIDGINAQKQWLKSEDIQRISLLFYNKVLEKEYRATALPAF +KYYVTCACLIFFCIFIVQILVLPKTSVLGISFGAAFLLLAFILFVCFAGQLLQCSKKASPLLMWLLKSSGIIANRPWPRISLTIITTAIILMMAVFNMFF +LSDSEETIPPTANTTNTSFSASNNQVAILRAQNLFFLPYFIYSCILGLISCSVFLRVNYELKMLIMMVALVGYNTILLHTHAHVLGDYSQVLFERPGIWK +DLKTMGSVSLSIFFITLLVLGRQNEYYCRLDFLWKNKFKKEREEIETMENLNRVLLENVLPAHVAEHFLARSLKNEELYHQSYDCVCVMFASIPDFKEFY +TESDVNKEGLECLRLLNEIIADFDDLLSKPKFSGVEKIKTIGSTYMAATGLSAVPSQEHSQEPERQYMHIGTMVEFAFALVGKLDAINKHSFNDFKLRVG +INHGPVIAGVIGAQKPQYDIWGNTVNVASRMDSTGVLDKIQVTEETSLVLQTLGYTCTCRGIINVKGKGDLKTYFVNTEMSRSLSQSNVAS* +>line11271 NM_020546 c.2079_2094del p.M693Ifs*2 protein-altering (position 693-1090 changed from MAVFNMFFLSDSEETIPPTANTTNTSFSASNNQVAILRAQNLFFLPYFIYSCILGLISCSVFLRVNYELKMLIMMVALVGYNTILLHTHAHVLGDYSQVLFERPGIWKDLKTMGSVSLSIFFITLLVLGRQNEYYCRLDFLWKNKFKKEREEIETMENLNRVLLENVLPAHVAEHFLARSLKNEELYHQSYDCVCVMFASIPDFKEFYTESDVNKEGLECLRLLNEIIADFDDLLSKPKFSGVEKIKTIGSTYMAATGLSAVPSQEHSQEPERQYMHIGTMVEFAFALVGKLDAINKHSFNDFKLRVGINHGPVIAGVIGAQKPQYDIWGNTVNVASRMDSTGVLDKIQVTEETSLVLQTLGYTCTCRGIINVKGKGDLKTYFVNTEMSRSLSQSNVA to IF) +MWQEAMRRRRYLRDRSEEAAGGGDGLPRSRDWLYESYYCMSQQHPLIVFLLLIVMGSCLALLAVFFALGLEVEDHVAFLITVPTALAIFFAIFILVCIES +VFKKLLRLFSLVIWICLVAMGYLFMCFGGTVSPWDQVSFFLFIIFVVYTMLPFNMRDAIIASVLTSSSHTIVLSVCLSATPGGKEHLVWQILANVIIFIC +GNLAGAYHKHLMELALQQTYQDTCNCIKSRIKLEFEKRQQERLLLSLLPAHIAMEMKAEIIQRLQGPKAGQMENTNNFHNLYVKRHTNVSILYADIVGFT +RLASDCSPGELVHMLNELFGKFDQIAKENECMRIKILGDCYYCVSGLPISLPNHAKNCVKMGLDMCEAIKKVRDATGVDINMRVGVHSGNVLCGVIGLQK +WQYDVWSHDVTLANHMEAGGVPGRVHISSVTLEHLNGAYKVEEGDGDIRDPYLKQHLVKTYFVINPKGERRSPQHLFRPRHTLDGAKMRASVRMTRYLES +WGAAKPFAHLHHRDSMTTENGKISTTDVPMGQHNFQNRTLRTKSQKKRFEEELNERMIQAIDGINAQKQWLKSEDIQRISLLFYNKVLEKEYRATALPAF +KYYVTCACLIFFCIFIVQILVLPKTSVLGISFGAAFLLLAFILFVCFAGQLLQCSKKASPLLMWLLKSSGIIANRPWPRISLTIITTAIILMIFS* +>line12094 NM_021072 WILDTYPE +MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFKVDGGGGGGGGGGGGEEPAGGFEDAEGPRRQYGFMQRQFTS +MLQPGVNKFSLRMFGSQKAVEKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNVASDTVFLLDLIMNFRTGTVN +EDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVEKGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFN +LIGMMLLLCHWDGCLQFLVPLLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIGYGAQAPVSMSDLWITMLSMIVGATCYAMFVGHATALIQSL +DSSRRQYQEKYKQVEQYMSFHKLPADMRQKIHDYYEHRYQGKIFDEENILNELNDPLREEIVNFNCRKLVATMPLFANADPNFVTAMLSKLRFEVFQPGD +YIIREGAVGKKMYFIQHGVAGVITKSSKEMKLTDGSYFGEICLLTKGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSI +LLQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPINYPQMTTLNSTSSTTTPTSRMRTQSPPVYTATSLSHSNLHSPSPSTQTPQPSAILSPCSYT +TAVCSPPVQSPLAARTFHYASPTASQLSLMQQQPQQQVQQSQPPQTQPQQPSPQPQTPGSSTPKNEVHKSTQALHNTNLTREVRPLSASQPSLPHEVSTL +ISRPHPTVGESLASIPQPVTAVPGTGLQAGGRSTVPQRVTLFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPDAEKPRFASNL* +>line12094 NM_021072 c.221_223del p.G74del protein-altering (position 74 changed from G to ) +MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFKVDGGGGGGGGGGGEEPAGGFEDAEGPRRQYGFMQRQFTSM +LQPGVNKFSLRMFGSQKAVEKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNVASDTVFLLDLIMNFRTGTVNE +DSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVEKGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFNL +IGMMLLLCHWDGCLQFLVPLLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIGYGAQAPVSMSDLWITMLSMIVGATCYAMFVGHATALIQSLD +SSRRQYQEKYKQVEQYMSFHKLPADMRQKIHDYYEHRYQGKIFDEENILNELNDPLREEIVNFNCRKLVATMPLFANADPNFVTAMLSKLRFEVFQPGDY +IIREGAVGKKMYFIQHGVAGVITKSSKEMKLTDGSYFGEICLLTKGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSIL +LQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPINYPQMTTLNSTSSTTTPTSRMRTQSPPVYTATSLSHSNLHSPSPSTQTPQPSAILSPCSYTT +AVCSPPVQSPLAARTFHYASPTASQLSLMQQQPQQQVQQSQPPQTQPQQPSPQPQTPGSSTPKNEVHKSTQALHNTNLTREVRPLSASQPSLPHEVSTLI +SRPHPTVGESLASIPQPVTAVPGTGLQAGGRSTVPQRVTLFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPDAEKPRFASNL* +>line12383 NM_001297651 WILDTYPE +MDMSDPNFWTVLSNFTLPHLRSGNRLRRTQSCRTSNRKSLIGNGQSPALPRPHSPLSAHAGNSPQDSPRNFSPSASAHFSFARRTDGRRWSLASLPSSGY +GTNTPSSTVSSSCSSQEKLHQLPYQPTPDELHFLSKHFCTTESIATENRCRNTPMRPRSRSLSPGRSPACCDHEIIMMNHVYKERFPKATAQMEERLKEI +ITSYSPDNVLPLADGVLSFTHHQIIELARDCLDKSHQGLITSRYFLELQHKLDKLLQEAHDRSESGELAFIKQLVRKILIVIARPARLLECLEFDPEEFY +YLLEAAEGHAKEGQGIKTDIPRYIISQLGLNKDPLEEMAHLGNYDSGTAETPETDESVSSSNASLKLRRKPRESDFETIKLISNGAYGAVYFVRHKESRQ +RFAMKKINKQNLILRNQIQQAFVERDILTFAENPFVVSMYCSFETRRHLCMVMEYVEGGDCATLMKNMGPLPVDMARMYFAETVLALEYLHNYGIVHRDL +KPDNLLVTSMGHIKLTDFGLSKVGLMSMTTNLYEGHIEKDAREFLDKQVCGTPEYIAPEVILRQGYGKPVDWWAMGIILYEFLVGCVPFFGDTPEELFGQ +VISDEINWPEKDEAPPPDAQDLITLLLRQNPLERLGTGGAYEVKQHRFFRSLDWNSLLRQKAEFIPQLESEDDTSYFDTRSEKYHHMETEEEDDTNDEDF +NVEIRQFSSCSHRFSKVFSSIDRITQNSAEEKEDSVDKTKSTTLPSTETLSWSSEYSEMQQLSTSNSSDTESNRHKLSSGLLPKLAISTEGEQDEAASCP +GDPHEEPGKPALPPEECAQEEPEVTTPASTISSSTLSVGSFSEHLDQINGRSECVDSTDNSSKPSSEPASHMARQRLESTEKKKISGKVTKSLSASALSL +MIPGDMFAVSPLGSPMSPHSLSSDPSSSRDSSPSRDSSAASASPHQPIVIHSSGKNYGFTIRAIRVYVGDSDIYTVHHIVWNVEEGSPACQAGLKAGDLI +THINGEPVHGLVHTEVIELLLKSGNKVSITTTPFENTSIKTGPARRNSYKSRMVRRSKKSKKKESLERRRSLFKKLAKQPSPLLHTSRSFSCLNRSLSSG +ESLPGSPTHSLSPRSPTPSYRSTPDFPSGTNSSQSSSPSSSAPNSPAGSGHIRPSTLHGLAPKLGGQRYRSGRRKSAGNIPLSPLARTPSPTPQPTSPQR +SPSPLLGHSLGNSKIAQAFPSKMHSPPTIVRHIVRPKSAEPPRSPLLKRVQSEEKLSPSYGSDKKHLCSRKHSLEVTQEEVQREQSQREAPLQSLDENVC +DVPPLSRARPVEQGCLKRPVSRKVGRQESVDDLDRDKLKAKVVVKKADGFPEKQESHQKSHGPGSDLENFALFKLEEREKKVYPKAVERSSTFENKASMQ +EAPPLGSLLKDALHKQASVRASEGAMSDGRVPAEHRQGGGDFRRAPAPGTLQDGLCHSLDRGISGKGEGTEKSSQAKELLRCEKLDSKLANIDYLRKKMS +LEDKEDNLCPVLKPKMTAGSHECLPGNPVRPTGGQQEPPPASESRAFVSSTHAAQMSAVSFVPLKALTGRVDSGTEKPGLVAPESPVRKSPSEYKLEGRS +VSCLKPIEGTLDIALLSGPQASKTELPSPESAQSPSPSGDVRASVPPVLPSSSGKKNDTTSARELSPSSLKMNKSYLLEPWFLPPSRGLQNSPAVSLPDP +EFKRDRKGPHPTARSPGTVMESNPQQREGSSPKHQDHTTDPKLLTCLGQNLHSPDLARPRCPLPPEASPSREKPGLRESSERGPPTARSERSAARADTCR +EPSMELCFPETAKTSDNSKNLLSVGRTHPDFYTQTQAMEKAWAPGGKTNHKDGPGEARPPPRDNSSLHSAGIPCEKELGKVRRGVEPKPEALLARRSLQP +PGIESEKSEKLSSFPSLQKDGAKEPERKEQPLQRHPSSIPPPPLTAKDLSSPAARQHCSSPSHASGREPGAKPSTAEPSSSPQDPPKPVAAHSESSSHKP +RPGPDPGPPKTKHPDRSLSSQKPSVGATKGKEPATQSLGGSSREGKGHSKSGPDVFPATPGSQNKASDGIGQGEGGPSVPLHTDRAPLDAKPQPTSGGRP +LEVLEKPVHLPRPGHPGPSEPADQKLSAVGEKQTLSPKHPKPSTVKDCPTLCKQTDNRQTDKSPSQPAANTDRRAEGKKCTEALYAPAEGDKLEAGLSFV +HSENRLKGAERPAAGVGKGFPEARGKGPGPQKPPTEADKPNGMKRSPSATGQSSFRSTALPEKSLSCSSSFPETRAGVREASAASSDTSSAKAAGGMLEL +PAPSNRDHRKAQPAGEGRTHMTKSDSLPSFRVSTLPLESHHPDPNTMGGASHRDRALSVTATVGETKGKDPAPAQPPPARKQNVGRDVTKPSPAPNTDRP +ISLSNEKDFVVRQRRGKESLRSSPHKKAL* +>line12383 NM_001297651 c.5461_5463del p.L1822del protein-altering (position 1822 changed from L to ) +MDMSDPNFWTVLSNFTLPHLRSGNRLRRTQSCRTSNRKSLIGNGQSPALPRPHSPLSAHAGNSPQDSPRNFSPSASAHFSFARRTDGRRWSLASLPSSGY +GTNTPSSTVSSSCSSQEKLHQLPYQPTPDELHFLSKHFCTTESIATENRCRNTPMRPRSRSLSPGRSPACCDHEIIMMNHVYKERFPKATAQMEERLKEI +ITSYSPDNVLPLADGVLSFTHHQIIELARDCLDKSHQGLITSRYFLELQHKLDKLLQEAHDRSESGELAFIKQLVRKILIVIARPARLLECLEFDPEEFY +YLLEAAEGHAKEGQGIKTDIPRYIISQLGLNKDPLEEMAHLGNYDSGTAETPETDESVSSSNASLKLRRKPRESDFETIKLISNGAYGAVYFVRHKESRQ +RFAMKKINKQNLILRNQIQQAFVERDILTFAENPFVVSMYCSFETRRHLCMVMEYVEGGDCATLMKNMGPLPVDMARMYFAETVLALEYLHNYGIVHRDL +KPDNLLVTSMGHIKLTDFGLSKVGLMSMTTNLYEGHIEKDAREFLDKQVCGTPEYIAPEVILRQGYGKPVDWWAMGIILYEFLVGCVPFFGDTPEELFGQ +VISDEINWPEKDEAPPPDAQDLITLLLRQNPLERLGTGGAYEVKQHRFFRSLDWNSLLRQKAEFIPQLESEDDTSYFDTRSEKYHHMETEEEDDTNDEDF +NVEIRQFSSCSHRFSKVFSSIDRITQNSAEEKEDSVDKTKSTTLPSTETLSWSSEYSEMQQLSTSNSSDTESNRHKLSSGLLPKLAISTEGEQDEAASCP +GDPHEEPGKPALPPEECAQEEPEVTTPASTISSSTLSVGSFSEHLDQINGRSECVDSTDNSSKPSSEPASHMARQRLESTEKKKISGKVTKSLSASALSL +MIPGDMFAVSPLGSPMSPHSLSSDPSSSRDSSPSRDSSAASASPHQPIVIHSSGKNYGFTIRAIRVYVGDSDIYTVHHIVWNVEEGSPACQAGLKAGDLI +THINGEPVHGLVHTEVIELLLKSGNKVSITTTPFENTSIKTGPARRNSYKSRMVRRSKKSKKKESLERRRSLFKKLAKQPSPLLHTSRSFSCLNRSLSSG +ESLPGSPTHSLSPRSPTPSYRSTPDFPSGTNSSQSSSPSSSAPNSPAGSGHIRPSTLHGLAPKLGGQRYRSGRRKSAGNIPLSPLARTPSPTPQPTSPQR +SPSPLLGHSLGNSKIAQAFPSKMHSPPTIVRHIVRPKSAEPPRSPLLKRVQSEEKLSPSYGSDKKHLCSRKHSLEVTQEEVQREQSQREAPLQSLDENVC +DVPPLSRARPVEQGCLKRPVSRKVGRQESVDDLDRDKLKAKVVVKKADGFPEKQESHQKSHGPGSDLENFALFKLEEREKKVYPKAVERSSTFENKASMQ +EAPPLGSLLKDALHKQASVRASEGAMSDGRVPAEHRQGGGDFRRAPAPGTLQDGLCHSLDRGISGKGEGTEKSSQAKELLRCEKLDSKLANIDYLRKKMS +LEDKEDNLCPVLKPKMTAGSHECLPGNPVRPTGGQQEPPPASESRAFVSSTHAAQMSAVSFVPLKALTGRVDSGTEKPGLVAPESPVRKSPSEYKLEGRS +VSCLKPIEGTLDIALLSGPQASKTELPSPESAQSPSPSGDVRASVPPVLPSSSGKKNDTTSARELSPSSLKMNKSYLLEPWFLPPSRGLQNSPAVSLPDP +EFKRDRKGPHPTARSPGTVMESNPQQREGSSPKHQDHTTDPKLLTCLGQNLHSPDLARPRCPLPPEASPSREKPGLRESSERGPPTARSERSAARADTCR +EPSMELCFPETAKTSDNSKNLSVGRTHPDFYTQTQAMEKAWAPGGKTNHKDGPGEARPPPRDNSSLHSAGIPCEKELGKVRRGVEPKPEALLARRSLQPP +GIESEKSEKLSSFPSLQKDGAKEPERKEQPLQRHPSSIPPPPLTAKDLSSPAARQHCSSPSHASGREPGAKPSTAEPSSSPQDPPKPVAAHSESSSHKPR +PGPDPGPPKTKHPDRSLSSQKPSVGATKGKEPATQSLGGSSREGKGHSKSGPDVFPATPGSQNKASDGIGQGEGGPSVPLHTDRAPLDAKPQPTSGGRPL +EVLEKPVHLPRPGHPGPSEPADQKLSAVGEKQTLSPKHPKPSTVKDCPTLCKQTDNRQTDKSPSQPAANTDRRAEGKKCTEALYAPAEGDKLEAGLSFVH +SENRLKGAERPAAGVGKGFPEARGKGPGPQKPPTEADKPNGMKRSPSATGQSSFRSTALPEKSLSCSSSFPETRAGVREASAASSDTSSAKAAGGMLELP +APSNRDHRKAQPAGEGRTHMTKSDSLPSFRVSTLPLESHHPDPNTMGGASHRDRALSVTATVGETKGKDPAPAQPPPARKQNVGRDVTKPSPAPNTDRPI +SLSNEKDFVVRQRRGKESLRSSPHKKAL* +>line12432 NM_001015892 WILDTYPE +MESGKTASPKSMPKDAQMMAQILKDMGITEYEPRVINQMLEFAFRYVTTILDDAKIYSSHAKKATVDADDVRLAIQCRADQSFTSPPPRDFLLDIARQRN +QTPLPLIKPYSGPRLPPDRYCLTAPNYRLKSLQKKASTSAGRITVPRLSVGSVTSRPSTPTLGTPTPQTMSVSTKVGTPMSLTGQRFTVQMPTSQSPAVK +ASIPATSAVQNVLINPSLIGSKNILITTNMMSSQNTANESSNALKRKREDDDDDDDDDDDYDNL* +>line12432 NM_001015892 c.777_779del p.D260del protein-altering (position 260 changed from D to ) +MESGKTASPKSMPKDAQMMAQILKDMGITEYEPRVINQMLEFAFRYVTTILDDAKIYSSHAKKATVDADDVRLAIQCRADQSFTSPPPRDFLLDIARQRN +QTPLPLIKPYSGPRLPPDRYCLTAPNYRLKSLQKKASTSAGRITVPRLSVGSVTSRPSTPTLGTPTPQTMSVSTKVGTPMSLTGQRFTVQMPTSQSPAVK +ASIPATSAVQNVLINPSLIGSKNILITTNMMSSQNTANESSNALKRKREDDDDDDDDDDYDNL* +>line12629 NM_002439 WILDTYPE +MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAAAAAAAPPAPPAPAFPPQLPPHIATEIDRRKKRPLENDGPVKKK +VKKVQQKEGGSDLGMSGNSEPKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERFAVLPKCTDFDDISLLHAKNAVSSEDSKRQINQKDTTLFDL +SQFGSSNTSHENLQKTASKSANKRSKSIYTPLELQYIEMKQQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAK +GYKVGVVKQTETAALKAIGDNRSSLFSRKLTALYTKSTLIGEDVNPLIKLDDAVNVDEIMTDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEV +VFDSFQDSASRSELETRMSSLQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDTVDIKGSQIISGIVNLEKPVI +CSLAAIIKYLKEFNLEKMLSKPENFKQLSSKMEFMTINGTTLRNLEILQNQTDMKTKGSLLWVLDHTKTSFGRRKLKKWVTQPLLKLREINARLDAVSEV +LHSESSVFGQIENHLRKLPDIERGLCSIYHKKCSTQEFFLIVKTLYHLKSEFQAIIPAVNSHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKT +ELFKDLSDFPLIKKRKDEIQGVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRFHSPFIVENYRHLNQLREQLV +LDCSAEWLDFLEKFSEHYHSLCKAVHHLATVDCIFSLAKVAKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPNNTDLSEDSERVMIITGPNMG +GKSSYIKQVALITIMAQIGSYVPAEEATIGIVDGIFTRMGAADNIYKGQSTFMEELTDTAEIIRKATSQSLVILDELGRGTSTHDGIAIAYATLEYFIRD +VKSLTLFVTHYPPVCELEKNYSHQVGNYHMGFLVSEDESKLDPGAAEQVPDFVTFLYQITRGIAARSYGLNVAKLADVPGEILKKAAHKSKELEGLINTK +RKRLKYFAKLWTMHNAQDLQKWTEEFNMEETQTSLLH* +>line12629 NM_002439 c.154_171del p.A57_A62del protein-altering (position 57-62 changed from AAAAAA to ) +MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAPPAPPAPAFPPQLPPHIATEIDRRKKRPLENDGPVKKKVKKVQQ +KEGGSDLGMSGNSEPKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERFAVLPKCTDFDDISLLHAKNAVSSEDSKRQINQKDTTLFDLSQFGSS +NTSHENLQKTASKSANKRSKSIYTPLELQYIEMKQQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAKGYKVGV +VKQTETAALKAIGDNRSSLFSRKLTALYTKSTLIGEDVNPLIKLDDAVNVDEIMTDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEVVFDSFQ +DSASRSELETRMSSLQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDTVDIKGSQIISGIVNLEKPVICSLAAI +IKYLKEFNLEKMLSKPENFKQLSSKMEFMTINGTTLRNLEILQNQTDMKTKGSLLWVLDHTKTSFGRRKLKKWVTQPLLKLREINARLDAVSEVLHSESS +VFGQIENHLRKLPDIERGLCSIYHKKCSTQEFFLIVKTLYHLKSEFQAIIPAVNSHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKTELFKDL +SDFPLIKKRKDEIQGVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRFHSPFIVENYRHLNQLREQLVLDCSAE +WLDFLEKFSEHYHSLCKAVHHLATVDCIFSLAKVAKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPNNTDLSEDSERVMIITGPNMGGKSSYI +KQVALITIMAQIGSYVPAEEATIGIVDGIFTRMGAADNIYKGQSTFMEELTDTAEIIRKATSQSLVILDELGRGTSTHDGIAIAYATLEYFIRDVKSLTL +FVTHYPPVCELEKNYSHQVGNYHMGFLVSEDESKLDPGAAEQVPDFVTFLYQITRGIAARSYGLNVAKLADVPGEILKKAAHKSKELEGLINTKRKRLKY +FAKLWTMHNAQDLQKWTEEFNMEETQTSLLH* +>line12630 NM_002439 WILDTYPE +MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAAAAAAAPPAPPAPAFPPQLPPHIATEIDRRKKRPLENDGPVKKK +VKKVQQKEGGSDLGMSGNSEPKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERFAVLPKCTDFDDISLLHAKNAVSSEDSKRQINQKDTTLFDL +SQFGSSNTSHENLQKTASKSANKRSKSIYTPLELQYIEMKQQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAK +GYKVGVVKQTETAALKAIGDNRSSLFSRKLTALYTKSTLIGEDVNPLIKLDDAVNVDEIMTDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEV +VFDSFQDSASRSELETRMSSLQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDTVDIKGSQIISGIVNLEKPVI +CSLAAIIKYLKEFNLEKMLSKPENFKQLSSKMEFMTINGTTLRNLEILQNQTDMKTKGSLLWVLDHTKTSFGRRKLKKWVTQPLLKLREINARLDAVSEV +LHSESSVFGQIENHLRKLPDIERGLCSIYHKKCSTQEFFLIVKTLYHLKSEFQAIIPAVNSHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKT +ELFKDLSDFPLIKKRKDEIQGVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRFHSPFIVENYRHLNQLREQLV +LDCSAEWLDFLEKFSEHYHSLCKAVHHLATVDCIFSLAKVAKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPNNTDLSEDSERVMIITGPNMG +GKSSYIKQVALITIMAQIGSYVPAEEATIGIVDGIFTRMGAADNIYKGQSTFMEELTDTAEIIRKATSQSLVILDELGRGTSTHDGIAIAYATLEYFIRD +VKSLTLFVTHYPPVCELEKNYSHQVGNYHMGFLVSEDESKLDPGAAEQVPDFVTFLYQITRGIAARSYGLNVAKLADVPGEILKKAAHKSKELEGLINTK +RKRLKYFAKLWTMHNAQDLQKWTEEFNMEETQTSLLH* +>line12630 NM_002439 c.196_204del p.P67_P69del protein-altering (position 67-69 changed from PAP to ) +MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAAAAAAAPPAPAFPPQLPPHIATEIDRRKKRPLENDGPVKKKVKK +VQQKEGGSDLGMSGNSEPKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERFAVLPKCTDFDDISLLHAKNAVSSEDSKRQINQKDTTLFDLSQF +GSSNTSHENLQKTASKSANKRSKSIYTPLELQYIEMKQQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAKGYK +VGVVKQTETAALKAIGDNRSSLFSRKLTALYTKSTLIGEDVNPLIKLDDAVNVDEIMTDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEVVFD +SFQDSASRSELETRMSSLQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDTVDIKGSQIISGIVNLEKPVICSL +AAIIKYLKEFNLEKMLSKPENFKQLSSKMEFMTINGTTLRNLEILQNQTDMKTKGSLLWVLDHTKTSFGRRKLKKWVTQPLLKLREINARLDAVSEVLHS +ESSVFGQIENHLRKLPDIERGLCSIYHKKCSTQEFFLIVKTLYHLKSEFQAIIPAVNSHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKTELF +KDLSDFPLIKKRKDEIQGVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRFHSPFIVENYRHLNQLREQLVLDC +SAEWLDFLEKFSEHYHSLCKAVHHLATVDCIFSLAKVAKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPNNTDLSEDSERVMIITGPNMGGKS +SYIKQVALITIMAQIGSYVPAEEATIGIVDGIFTRMGAADNIYKGQSTFMEELTDTAEIIRKATSQSLVILDELGRGTSTHDGIAIAYATLEYFIRDVKS +LTLFVTHYPPVCELEKNYSHQVGNYHMGFLVSEDESKLDPGAAEQVPDFVTFLYQITRGIAARSYGLNVAKLADVPGEILKKAAHKSKELEGLINTKRKR +LKYFAKLWTMHNAQDLQKWTEEFNMEETQTSLLH* +>line13080 NM_001085377 WILDTYPE +MMAAAAAAAAGSSSSGGGGGGSGSSSSSSDTSSTGEEERMRRLFQTCDGDGDGYISRNDLLMVCRQLNMEESVAEIMNQLGADENGKISFQDFTRCRMQL +VREIRKEEVDLSAKSDNSCTKKLRDRIASWPTSSDNSLGALSAARESWEYDSGARDLQSPDVQSQSALQKLLEYGGSSLHQQAALHKLLTQSPHIGNSVG +GSYLELANTLHSAALASLKGDIVELNKRLQQTERERDLLEKKLAKAQCEQSHLMREHEDVQERTTLRYEERITELHSVIAELNKKIDRLQGTTIREEDEY +SELRSELSQSQHEVNEDSRSMDQDQTSVSIPENQSTMVTADMDNCSDLNSELQRVLTGLENVVCGRKKSSCSLSVAEVDKHIEQLTTASEHCDLAIKTVE +EIEGVLGRDLYPNLAEERSRWEKELAGLREENESLTAMLCSKEEELNRTKATMNAIREERDRLRRRVRELQTRLQSVQATGPSSPGRLTSTNRPINPSTG +ELSTSSSSNDIPIAKIAERVKLSKTRSESSSSDRPVLGSEISSIGVSSSVAEHLAHSLQDCSNIQEIFQTLYSHGSAISESKIREFEVETERLNSRIEHL +KSQNDLLTITLEECKSNAERMSMLVGKYESNATALRLALQYSEQCIEAYELLLALAESEQSLILGQFRAAGVGSSPGDQSGDENITQMLKRAHDCRKTAE +NAAKALLMKLDGSCGGAFAVAGCSVQPWESLSSNSHTSTTSSTASSCDTEFTKEDEQRLKDYIQQLKNDRAAVKLTMLELESIHIDPLSYDVKPRGDSQR +LDLENAVLMQELMAMKEEMAELKAQLYLLEKEKKALELKLSTREAQEQAYLVHIEHLKSEVEEQKEQRMRSLSSTSSGSKDKPGKECADAASPALSLAEL +RTTCSENELAAEFTNAIRREKKLKARVQELVSALERLTKSSEIRHQQSAEFVNDLKRANSNLVAAYEKAKKKHQNKLKKLESQMMAMVERHETQVRMLKQ +RIALLEEENSRPHTNETSL* +>line13080 NM_001085377 c.63_64insGGC p.G21_S22insG protein-altering (position 21-22 has insertion G) +MMAAAAAAAAGSSSSGGGGGGGSGSSSSSSDTSSTGEEERMRRLFQTCDGDGDGYISRNDLLMVCRQLNMEESVAEIMNQLGADENGKISFQDFTRCRMQ +LVREIRKEEVDLSAKSDNSCTKKLRDRIASWPTSSDNSLGALSAARESWEYDSGARDLQSPDVQSQSALQKLLEYGGSSLHQQAALHKLLTQSPHIGNSV +GGSYLELANTLHSAALASLKGDIVELNKRLQQTERERDLLEKKLAKAQCEQSHLMREHEDVQERTTLRYEERITELHSVIAELNKKIDRLQGTTIREEDE +YSELRSELSQSQHEVNEDSRSMDQDQTSVSIPENQSTMVTADMDNCSDLNSELQRVLTGLENVVCGRKKSSCSLSVAEVDKHIEQLTTASEHCDLAIKTV +EEIEGVLGRDLYPNLAEERSRWEKELAGLREENESLTAMLCSKEEELNRTKATMNAIREERDRLRRRVRELQTRLQSVQATGPSSPGRLTSTNRPINPST +GELSTSSSSNDIPIAKIAERVKLSKTRSESSSSDRPVLGSEISSIGVSSSVAEHLAHSLQDCSNIQEIFQTLYSHGSAISESKIREFEVETERLNSRIEH +LKSQNDLLTITLEECKSNAERMSMLVGKYESNATALRLALQYSEQCIEAYELLLALAESEQSLILGQFRAAGVGSSPGDQSGDENITQMLKRAHDCRKTA +ENAAKALLMKLDGSCGGAFAVAGCSVQPWESLSSNSHTSTTSSTASSCDTEFTKEDEQRLKDYIQQLKNDRAAVKLTMLELESIHIDPLSYDVKPRGDSQ +RLDLENAVLMQELMAMKEEMAELKAQLYLLEKEKKALELKLSTREAQEQAYLVHIEHLKSEVEEQKEQRMRSLSSTSSGSKDKPGKECADAASPALSLAE +LRTTCSENELAAEFTNAIRREKKLKARVQELVSALERLTKSSEIRHQQSAEFVNDLKRANSNLVAAYEKAKKKHQNKLKKLESQMMAMVERHETQVRMLK +QRIALLEEENSRPHTNETSL* +>line13450 NM_001964 WILDTYPE +MAAAKAEMQLMSPLQISDPFGSFPHSPTMDNYPKLEEMMLLSNGAPQFLGAAGAPEGSGSNSSSSSSGGGGGGGGGSNSSSSSSTFNPQADTGEQPYEHL +TAESFPDISLNNEKVLVETSYPSQTTRLPPITYTGRFSLEPAPNSGNTLWPEPLFSLVSGLVSMTNPPASSSSAPSPAASSASASQSPPLSCAVPSNDSS +PIYSAAPTFPTPNTDIFPEPQSQAFPGSAGTALQYPPPAYPAAKGGFQVPMIPDYLFPQQQGDLGLGTPDQKPFQGLESRTQQPSLTPLSTIKAFATQSG +SQDLKALNTSYQSQLIKPSRMRKYPNRPSKTPPHERPYACPVESCDRRFSRSDELTRHIRIHTGQKPFQCRICMRNFSRSDHLTTHIRTHTGEKPFACDI +CGRKFARSDERKRHTKIHLRQKDKKADKSVVASSATSSLSSYPSPVATSYPSPVTTSYPSPATTSYPSPVPTSFSSPGSSTYPSPVHSGFPSPSVATTYS +SVPPAFPAQVSSFPSSAVTNSFSASTGLSDMTATFSPRTIEIC* +>line13450 NM_001964 c.183_185del p.S67del protein-altering (position 67 changed from S to ) +MAAAKAEMQLMSPLQISDPFGSFPHSPTMDNYPKLEEMMLLSNGAPQFLGAAGAPEGSGSNSSSSSGGGGGGGGGSNSSSSSSTFNPQADTGEQPYEHLT +AESFPDISLNNEKVLVETSYPSQTTRLPPITYTGRFSLEPAPNSGNTLWPEPLFSLVSGLVSMTNPPASSSSAPSPAASSASASQSPPLSCAVPSNDSSP +IYSAAPTFPTPNTDIFPEPQSQAFPGSAGTALQYPPPAYPAAKGGFQVPMIPDYLFPQQQGDLGLGTPDQKPFQGLESRTQQPSLTPLSTIKAFATQSGS +QDLKALNTSYQSQLIKPSRMRKYPNRPSKTPPHERPYACPVESCDRRFSRSDELTRHIRIHTGQKPFQCRICMRNFSRSDHLTTHIRTHTGEKPFACDIC +GRKFARSDERKRHTKIHLRQKDKKADKSVVASSATSSLSSYPSPVATSYPSPVTTSYPSPATTSYPSPVPTSFSSPGSSTYPSPVHSGFPSPSVATTYSS +VPPAFPAQVSSFPSSAVTNSFSASTGLSDMTATFSPRTIEIC* +>line13491 NM_001184935 WILDTYPE +MRQVCCSALPPPPLEKGRCSSYSDSSSSSSERSSSSSSSSSESGSSSRSSSNNSSISRPAAPPEPRPQQQPQPRSPAARRAAARSRAAAAGGMRRDPAPG +FSMLLFGVSLACYSPSLKSVQDQAYKAPVVVEGKVQGLVPAGGSSSNSTREPPASGRVALVKVLDKWPLRSGGLQREQVISVGSCVPLERNQRYIFFLEP +TEQPLVFKTAFAPLDTNGKNLKKEVGKILCTDCATRPKLKKMKSQTGQVGEKQSLKCEAAAGNPQPSYRWFKDGKELNRSRDIRIKYGNGRKNSRLQFNK +VKVEDAGEYVCEAENILGKDTVRGRLYVNSEAEELYQKRVLTITGICVALLVVGIVCVVAYCKTKKQRKQMHNHLRQNMCPAHQNRSLANGPSHPRLDPE +EIQMADYISKNVPATDHVIRRETETTFSGSHSCSPSHHCSTATPTSSHRHESHTWSLERSESLTSDSQSGIMLSSVGTSKCNSPACVEARARRAAAYNLE +ERRRATAPPYHDSVDSLRDSPHSERYVSALTTPARLSPVDFHYSLATQVPTFEITSPNSAHAVSLPPAAPISYRLAEQQPLLRHPAPPGPGPGPGPGPGP +GADMQRSYDSYYYPAAGPGPRRGTCALGGSLGSLPASPFRIPEDDEYETTQECAPPPPPRPRARGASRRTSAGPRRWRRSRLNGLAAQRARAARDSLSLS +SGSGGGSASASDDDADDADGALAAESTPFLGLRGAHDALRSDSPPLCPAADSRTYYSLDSHSTRASSRHSRGPPPRAKQDSAPL* +>line13491 NM_001184935 c.91_96del p.E31_R32del protein-altering (position 31-32 changed from ER to ) +MRQVCCSALPPPPLEKGRCSSYSDSSSSSSSSSSSSSSSESGSSSRSSSNNSSISRPAAPPEPRPQQQPQPRSPAARRAAARSRAAAAGGMRRDPAPGFS +MLLFGVSLACYSPSLKSVQDQAYKAPVVVEGKVQGLVPAGGSSSNSTREPPASGRVALVKVLDKWPLRSGGLQREQVISVGSCVPLERNQRYIFFLEPTE +QPLVFKTAFAPLDTNGKNLKKEVGKILCTDCATRPKLKKMKSQTGQVGEKQSLKCEAAAGNPQPSYRWFKDGKELNRSRDIRIKYGNGRKNSRLQFNKVK +VEDAGEYVCEAENILGKDTVRGRLYVNSEAEELYQKRVLTITGICVALLVVGIVCVVAYCKTKKQRKQMHNHLRQNMCPAHQNRSLANGPSHPRLDPEEI +QMADYISKNVPATDHVIRRETETTFSGSHSCSPSHHCSTATPTSSHRHESHTWSLERSESLTSDSQSGIMLSSVGTSKCNSPACVEARARRAAAYNLEER +RRATAPPYHDSVDSLRDSPHSERYVSALTTPARLSPVDFHYSLATQVPTFEITSPNSAHAVSLPPAAPISYRLAEQQPLLRHPAPPGPGPGPGPGPGPGA +DMQRSYDSYYYPAAGPGPRRGTCALGGSLGSLPASPFRIPEDDEYETTQECAPPPPPRPRARGASRRTSAGPRRWRRSRLNGLAAQRARAARDSLSLSSG +SGGGSASASDDDADDADGALAAESTPFLGLRGAHDALRSDSPPLCPAADSRTYYSLDSHSTRASSRHSRGPPPRAKQDSAPL* +>line13497 NM_001035235 WILDTYPE +MTRCPAGQAEVEMAELYVKPGNKERGWNDPPQFSYGLQTQAGGPRRSLLTKRVAAPQDGSPRVPASETSPGPPPMGPPPPSSKAPRSPPVGSGPASGVEP +TSFPVESEAVMEDVLRPLEQALEDCRGHTRKQVCDDISRRLALLQEQWAGGKLSIPVKKRMALLVQELSSHRWDAADDIHRSLMVDHVTEVSQWMVGVKR +LIAEKRSLFSEEAANEEKSAATAEKNHTIPGFQQAS* +>line13497 NM_001035235 c.328_329insAC p.V110Dfs*1 protein-altering (position 110-236 changed from VMEDVLRPLEQALEDCRGHTRKQVCDDISRRLALLQEQWAGGKLSIPVKKRMALLVQELSSHRWDAADDIHRSLMVDHVTEVSQWMVGVKRLIAEKRSLFSEEAANEEKSAATAEKNHTIPGFQQAS to D) +MTRCPAGQAEVEMAELYVKPGNKERGWNDPPQFSYGLQTQAGGPRRSLLTKRVAAPQDGSPRVPASETSPGPPPMGPPPPSSKAPRSPPVGSGPASGVEP +TSFPVESEAD* +>line13498 NM_001035235 WILDTYPE +MTRCPAGQAEVEMAELYVKPGNKERGWNDPPQFSYGLQTQAGGPRRSLLTKRVAAPQDGSPRVPASETSPGPPPMGPPPPSSKAPRSPPVGSGPASGVEP +TSFPVESEAVMEDVLRPLEQALEDCRGHTRKQVCDDISRRLALLQEQWAGGKLSIPVKKRMALLVQELSSHRWDAADDIHRSLMVDHVTEVSQWMVGVKR +LIAEKRSLFSEEAANEEKSAATAEKNHTIPGFQQAS* +>line13498 NM_001035235 c.327_328insC p.V110Rfs*25 protein-altering (position 110-236 changed from VMEDVLRPLEQALEDCRGHTRKQVCDDISRRLALLQEQWAGGKLSIPVKKRMALLVQELSSHRWDAADDIHRSLMVDHVTEVSQWMVGVKRLIAEKRSLFSEEAANEEKSAATAEKNHTIPGFQQAS to RDGGCAETFGTGIGRLPWPHKEAGM) +MTRCPAGQAEVEMAELYVKPGNKERGWNDPPQFSYGLQTQAGGPRRSLLTKRVAAPQDGSPRVPASETSPGPPPMGPPPPSSKAPRSPPVGSGPASGVEP +TSFPVESEARDGGCAETFGTGIGRLPWPHKEAGM* +>line13535 NM_005219 WILDTYPE +MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQML +LDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHD +EKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLD +GLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRVQLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNT +VKDSKAEPHFLSILQHLLLVRNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDSELTARHELQV +EMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPP +APGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEGVGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGI +PPPPPPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEVQLRRPNWSKLVAEDLSQDCFWTK +VKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKSVQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPE +PEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFN +ISFLCKLRDTKSTDQKMTLLHFLAELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQ +YNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHNFRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMD +SLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTILEEAKELVGRAS* +>line13535 NM_005219 c.1842_1853del p.P617_P620del protein-altering (position 617-620 changed from PPPP to ) +MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQML +LDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHD +EKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLD +GLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRVQLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNT +VKDSKAEPHFLSILQHLLLVRNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDSELTARHELQV +EMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPP +APGDSTTPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEGVGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPP +PPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEVQLRRPNWSKLVAEDLSQDCFWTKVKED +RFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKSVQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPEPEQL +KMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFL +CKLRDTKSTDQKMTLLHFLAELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQYNKL +RMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHNFRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMDSLLE +ALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTILEEAKELVGRAS* +>line13548 NM_016580 WILDTYPE +MMQLLQLLLGLLGPGGYLFLLGDCQEVTTLTVKYQVSEEVPSGTVIGKLSQELGREERRRQAGAAFQVLQLPQALPIQVDSEEGLLSTGRRLDREQLCRQ +WDPCLVSFDVLATGDLALIHVEIQVLDINDHQPRFPKGEQELEISESASLRTRIPLDRALDPDTGPNTLHTYTLSPSEHFALDVIVGPDETKHAELIVVK +ELDREIHSFFDLVLTAYDNGNPPKSGTSLVKVNVLDSNDNSPAFAESSLALEIQEDAAPGTLLIKLTATDPDQGPNGEVEFFLSKHMPPEVLDTFSIDAK +TGQVILRRPLDYEKNPAYEVDVQARDLGPNPIPAHCKVLIKVLDVNDNIPSIHVTWASQPSLVSEALPKDSFIALVMADDLDSGHNGLVHCWLSQELGHF +RLKRTNGNTYMLLTNATLDREQWPKYTLTLLAQDQGLQPLSAKKQLSIQISDINDNAPVFEKSRYEVSTRENNLPSLHLITIKAHDADLGINGKVSYRIQ +DSPVAHLVAIDSNTGEVTAQRSLNYEEMAGFEFQVIAEDSGQPMLASSVSVWVSLLDANDNAPEVVQPVLSDGKASLSVLVNASTGHLLVPIETPNGLGP +AGTDTPPLATHSSRPFLLTTIVARDADSGANGEPLYSIRSGNEAHLFILNPHTGQLFVNVTNASSLIGSEWELEIVVEDQGSPPLQTRALLRVMFVTSVD +HLRDSARKPGALSMSMLTVICLAVLLGIFGLILALFMSICRTEKKDNRAYNCREAESTYRQQPKRPQKHIQKADIHLVPVLRGQAGEPCEVGQSHKDVDK +EAMMEAGWDPCLQAPFHLTPTLYRTLRNQGNQGAPAESREVLQDTVNLLFNHPRQRNASRENLNLPEPQPATGQPRSRPLKVAGSPTGRLAGDQGSEEAP +QRPPASSATLRRQRHLNGKVSPEKESGPRQILRSLVRLSVAAFAERNPVEELTVDSPPVQQISQLLSLLHQGQFQPKPNHRGNKYLAKPGGSRSAIPDTD +GPSARAGGQTDPEQEEGPLDPEEDLSVKQLLEEELSSLLDPSTGLALDRLSAPDPAWMARLSLPLTTNYRDNVISPDAAATEEPRTFQTFGKAEAPELSP +TGTRLASTFVSEMSSLLEMLLEQRSSMPVEAASEALRRLSVCGRTLSLDLATSAASGMKVQGDPGGKTGTEGKSRGSSSSSRCL* +>line13548 NM_016580 c.3545_3546insCAGCAGCAG p.S1181_R1182insSSS protein-altering (position 1181-1182 has insertion SSS) +MMQLLQLLLGLLGPGGYLFLLGDCQEVTTLTVKYQVSEEVPSGTVIGKLSQELGREERRRQAGAAFQVLQLPQALPIQVDSEEGLLSTGRRLDREQLCRQ +WDPCLVSFDVLATGDLALIHVEIQVLDINDHQPRFPKGEQELEISESASLRTRIPLDRALDPDTGPNTLHTYTLSPSEHFALDVIVGPDETKHAELIVVK +ELDREIHSFFDLVLTAYDNGNPPKSGTSLVKVNVLDSNDNSPAFAESSLALEIQEDAAPGTLLIKLTATDPDQGPNGEVEFFLSKHMPPEVLDTFSIDAK +TGQVILRRPLDYEKNPAYEVDVQARDLGPNPIPAHCKVLIKVLDVNDNIPSIHVTWASQPSLVSEALPKDSFIALVMADDLDSGHNGLVHCWLSQELGHF +RLKRTNGNTYMLLTNATLDREQWPKYTLTLLAQDQGLQPLSAKKQLSIQISDINDNAPVFEKSRYEVSTRENNLPSLHLITIKAHDADLGINGKVSYRIQ +DSPVAHLVAIDSNTGEVTAQRSLNYEEMAGFEFQVIAEDSGQPMLASSVSVWVSLLDANDNAPEVVQPVLSDGKASLSVLVNASTGHLLVPIETPNGLGP +AGTDTPPLATHSSRPFLLTTIVARDADSGANGEPLYSIRSGNEAHLFILNPHTGQLFVNVTNASSLIGSEWELEIVVEDQGSPPLQTRALLRVMFVTSVD +HLRDSARKPGALSMSMLTVICLAVLLGIFGLILALFMSICRTEKKDNRAYNCREAESTYRQQPKRPQKHIQKADIHLVPVLRGQAGEPCEVGQSHKDVDK +EAMMEAGWDPCLQAPFHLTPTLYRTLRNQGNQGAPAESREVLQDTVNLLFNHPRQRNASRENLNLPEPQPATGQPRSRPLKVAGSPTGRLAGDQGSEEAP +QRPPASSATLRRQRHLNGKVSPEKESGPRQILRSLVRLSVAAFAERNPVEELTVDSPPVQQISQLLSLLHQGQFQPKPNHRGNKYLAKPGGSRSAIPDTD +GPSARAGGQTDPEQEEGPLDPEEDLSVKQLLEEELSSLLDPSTGLALDRLSAPDPAWMARLSLPLTTNYRDNVISPDAAATEEPRTFQTFGKAEAPELSP +TGTRLASTFVSEMSSLLEMLLEQRSSMPVEAASEALRRLSVCGRTLSLDLATSAASGMKVQGDPGGKTGTEGKSRGSSSSSSSSRCL* +>line13814 NM_001308156 WILDTYPE +MHPQVVILSLILHLADSVAGSVKVGGEAGPSVTLPCHYSGAVTSMCWNRGSCSLFTCQNGIVWTNGTHVTYRKDTRYKLLGDLSRRDVSLTIENTAVSDS +GVYCCRVEHRGWFNDMKITVSLEIVPPKVTTTPIVTTVPTVTTVRTSTTVPTTTTVPMTTVPTTTVPTTMSIPTTTTVLTTMTVSTTTSVPTTTSIPTTT +SVPVTTTVSTFVPPMPLPRQNHEPVATSPSSPQPAETHPTTLQGAIRREPTSSPLYSYTTDGNDTVTESSDGLWNNNQTQLFLEHSLLTANTTKGIYAGV +CISVLVLLALLGVIIAKMFHLAAFKLKLCKMQLKRKSKQKTISTLRIVFMPRTKTQWCSLRVYAHECRRLNRHQHIRRLLDPKTIFLFQFHLAFQHVSDT +G* +>line13814 NM_001308156 c.599_601del p.T200del protein-altering (position 200 changed from T to ) +MHPQVVILSLILHLADSVAGSVKVGGEAGPSVTLPCHYSGAVTSMCWNRGSCSLFTCQNGIVWTNGTHVTYRKDTRYKLLGDLSRRDVSLTIENTAVSDS +GVYCCRVEHRGWFNDMKITVSLEIVPPKVTTTPIVTTVPTVTTVRTSTTVPTTTTVPMTTVPTTTVPTTMSIPTTTTVLTTMTVSTTTSVPTTTSIPTTS +VPVTTTVSTFVPPMPLPRQNHEPVATSPSSPQPAETHPTTLQGAIRREPTSSPLYSYTTDGNDTVTESSDGLWNNNQTQLFLEHSLLTANTTKGIYAGVC +ISVLVLLALLGVIIAKMFHLAAFKLKLCKMQLKRKSKQKTISTLRIVFMPRTKTQWCSLRVYAHECRRLNRHQHIRRLLDPKTIFLFQFHLAFQHVSDTG +* +>line14089 NM_001008220 WILDTYPE +MDFVMKQALGGATKDMGKMLGGEEEKDPDAQKKEEERQEALRQQEEERKAKHARMEAEREKVRQQIRDKYGLKKKEEKEAEEKAALEQPCEGSLTRPKKA +IPAGCGDEEEEEEESILDTVLKYLPGPLQDMFKK* +>line14089 NM_001008220 c.322_324del p.E114del protein-altering (position 114 changed from E to ) +MDFVMKQALGGATKDMGKMLGGEEEKDPDAQKKEEERQEALRQQEEERKAKHARMEAEREKVRQQIRDKYGLKKKEEKEAEEKAALEQPCEGSLTRPKKA +IPAGCGDEEEEEESILDTVLKYLPGPLQDMFKK* +>line14094 NM_001256539 WILDTYPE +MPKAKGKTRRQKFGYSVNRKRLNRNARRKAAPRIECSHIRHAWDHAKSVRQNLAEMGLAVDPNRAVPLRKRKVKAMEVDIEERPKELVRKPYVLNDLEAE +ASLPEKKGNTLSRDLIDYVRYMVENHGEDYKQSGKTSSILCRRGRWRWSDWFTSQLPQAEASPGPVKLEPGCKARRCCVAPEELARSHGIRRLHTRAHSP +LWGRNCSQRLQFIFIWGFTEKPEPAVFRVGDV +>line14094 NM_001256539 c.586_587insAC p.R196Hfs*38 protein-altering (position 196-232 changed from RAHSPLWGRNCSQRLQFIFIWGFTEKPEPAVFRVGDV to HVHTPRSGEGTVLRGSNLYSSGGSRKSQNLLFSGWVM*) +MPKAKGKTRRQKFGYSVNRKRLNRNARRKAAPRIECSHIRHAWDHAKSVRQNLAEMGLAVDPNRAVPLRKRKVKAMEVDIEERPKELVRKPYVLNDLEAE +ASLPEKKGNTLSRDLIDYVRYMVENHGEDYKQSGKTSSILCRRGRWRWSDWFTSQLPQAEASPGPVKLEPGCKARRCCVAPEELARSHGIRRLHTHVHTP +RSGEGTVLRGSNLYSSGGSRKSQNLLFSGWVM* +>line14256 NM_001453 WILDTYPE +MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGMARAYGPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKIT +LNGIYQFIMDRFPFYRDNKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDAVKDKEEKDRLHLKEPPPPGRQ +PPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPLSPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAP +PPHHSQGFSVDNIMTSLRGSPQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAM +SLYAAGERGGHLQGAPGGAGGSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGGDLGHLASAAAAAAAAGYPGQ +QQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLYRTSGAFVYDCSKF* +>line14256 NM_001453 c.1337_1338insCGG p.G456_Q457insG protein-altering (position 456-457 has insertion G) +MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGMARAYGPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKIT +LNGIYQFIMDRFPFYRDNKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDAVKDKEEKDRLHLKEPPPPGRQ +PPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPLSPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAP +PPHHSQGFSVDNIMTSLRGSPQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAM +SLYAAGERGGHLQGAPGGAGGSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGGDLGHLASAAAAAAAAGYPG +QQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLYRTSGAFVYDCSKF* +>line14257 NM_001453 WILDTYPE +MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGMARAYGPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKIT +LNGIYQFIMDRFPFYRDNKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDAVKDKEEKDRLHLKEPPPPGRQ +PPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPLSPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAP +PPHHSQGFSVDNIMTSLRGSPQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAM +SLYAAGERGGHLQGAPGGAGGSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGGDLGHLASAAAAAAAAGYPGQ +QQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLYRTSGAFVYDCSKF* +>line14257 NM_001453 c.1462_1464del p.A495del protein-altering (position 495 changed from A to ) +MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGMARAYGPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKIT +LNGIYQFIMDRFPFYRDNKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDAVKDKEEKDRLHLKEPPPPGRQ +PPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPLSPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAP +PPHHSQGFSVDNIMTSLRGSPQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAM +SLYAAGERGGHLQGAPGGAGGSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGGDLGHLASAAAAAAAGYPGQQ +QNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLYRTSGAFVYDCSKF* +>line14385 NM_002114 WILDTYPE +MPRTKQIHPRNLRDKIEEAQKELNGAEVSKKEILQAGVKGTSESLKGVKRKKIVAENHLKKIPKSPLRNPLQAKHKQNTEESSFAVLHSASESHKKQNYI +PVKNGKQFTKQNGETPGIIAEASKSEESVSPKKPLFLQQPSELRRWRSEGADPAKFSDLDEQCDSSSLSSKTRTDNSECISSHCGTTSPSYTNTAFDVLL +KAMEPELSTLSQKGSPCAIKTEKLRPNKTARSPPKLKNSSMDAPNQTSQELVAESQSSCTSYTVHMSAAQKNEQGAMQSASHLYHQHEHFVPKSNQHNQQ +LPGCSGFTGSLTNLQNQENAKLEQVYNIAVTSSVGLTSPSSRSQVTPQNQQMDSASPLSISPANSTQSPPMPIYNSTHVASVVNQSVEQMCNLLLKDQKP +KKQGKYICEYCNRACAKPSVLLKHIRSHTGERPYPCVTCGFSFKTKSNLYKHKKSHAHTIKLGLVLQPDAGGLFLSHESPKALSIHSDVEDSGESEEEGA +TDERQHDLGAMELQPVHIIKRMSNAETLLKSSFTPSSPENVIGDFLLQDRSAESQAVTELPKVVVHHVTVSPLRTDSPKAMDPKPELSSAQKQKDLQVTN +VQPLSANMSQGGVSRLETNENSHQKGDMNPLEGKQDSHVGTVHAQLQRQQATDYSQEQQGKLLSPRSLGSTDSGYFSRSESADQTVSPPTPFARRLPSTE +QDSGRSNGPSAALVTTSTPSALPTGEKALLLPGQMRPPLATKTLEERISKLISDNEALVDDKQLDSVKPRRTSLSRRGSIDSPKSYIFKDSFQFDLKPVG +RRTSSSSDIPKSPFTPTEKSKQVFLLSVPSLDCLPITRSNSMPTTGYSAVPANIIPPPHPLRGSQSFDDKIGTFYDDVFVSGPNAPVPQSGHPRTLVRQA +AIEDSSANESHVLGTGQSLDESHQGCHAAGEAMSVRSKALAQGPHIEKKKSHQGRGTMFECETCRNRYRKLENFENHKKFYCSELHGPKTKVAMREPEHS +PVPGGLQPQILHYRVAGSSGIWEQTPQIRKRRKMKSVGDDEELQQNESGTSPKSSEGLQFQNALGCNPSLPKHNVTIRSDQQHKNIQLQNSHIHLVARGP +EQTMDPKLSTIMEQQISSAAQDKIELQRHGTGISVIQHTNSLSRPNSFDKPEPFERASPVSFQELNRTGKSGSLKVIGISQEESHPSRDGSHPHQLALSD +ALRGELQESSRKSPSERHVLGQPSRLVRQHNIQVPEILVTEEPDRDLEAQCHDQEKSEKFSWPQRSETLSKLPTEKLPPKKKRLRLAEIEHSSTESSFDS +TLSRSLSRESSLSHTSSFSASLDIEDVSKTEASPKIDFLNKAEFLMIPAGLNTLNVPGCHREMRRTASEQINCTQTSMEVSDLRSKSFDCGSITPPQTTP +LTELQPPSSPSRVGVTGHVPLLERRRGPLVRQISLNIAPDSHLSPVHPTSFQNTALPSVNAVPYQGPQLTSTSLAEFSANTLHSQTQVKDLQAETSNSSS +TNVFPVQQLCDINLLNQIHAPPSHQSTQLSLQVSTQGSKPDKNSVLSGSSKSEDCFAPKYQLHCQVFTSGPSCSSNPVHSLPNQVISDPVGTDHCVTSAT +LPTKLIDSMSNSHPLLPPELRPLGSQVQKVPSSFMLPIRLQSSVPAYCFATLTSLPQILVTQDLPNQPICQTNHSVVPISEEQNSVPTLQKGHQNALPNP +EKEFLCENVFSEMSQNSSLSESLPITQKISVGRLSPQQESSASSKRMLSPANSLDIAMEKHQKRAKDENGAVCATDVRPLEALSSRVNEASKQKKPILVR +QVCTTEPLDGVMLEKDVFSQPEISNEAVNLTNVLPADNSSTGCSKFVVIEPISELQEFENIKSSTSLTLTVRSSPAPSENTHISPLKCTDNNQERKSPGV +KNQGDKVNIQEQSQQPVTSLSLFNIKDTQQLAFPSLKTTTNFTWCYLLRQKSLHLPQKDQKTSAYTDWTVSASNPNPLGLPTKVALALLNSKQNTGKSLY +CQAITTHSKSDLLVYSSKWKSSLSKRALGNQKSTVVEFSNKDASEINSEQDKENSLIKSEPRRIKIFDGGYKSNEEYVYVRGRGRGKYICEECGIRCKKP +SMLKKHIRTHTDVRPYHCTYCNFSFKTKGNLTKHMKSKAHSKKCVDLGVSVGLIDEQDTEESDEKQRFSYERSGYDLEESDGPDEDDNENEDDDEDSQAE +SVLSATPSVTASPQHLPSRSSLQDPVSTDEDVRITDCFSGVHTDPMDVLPRALLTRMTVLSTAQSDYNRKTLSPGKARQRAARDENDTIPSVDTSRSPCH +QMSVDYPESEEILRSSMAGKAVAITQSPSSVRLPPAAAEHSPQTAAGMPSVASPHPDPQEQKQQITLQPTPGLPSPHTHLFSHLPLHSQQQSRTPYNMVP +VGGIHVVPAGLTYSTFVPLQAGPVQLTIPAVSVVHRTLGTHRNTVTEVSGTTNPAGVAELSSVVPCIPIGQIRVPGLQNLSTPGLQSLPSLSMETVNIVG +LANTNMAPQVHPPGLALNAVGLQVLTANPSSQSSPAPQAHIPGLQILNIALPTLIPSVSQVAVDAQGAPEMPASQSKACETQPKQTSVASANQVSRTESP +QGLPTVQRENAKKVLNPPAPAGDHARLDGLSKMDTEKAASANHVKPKPELTSIQGQPASTSQPLLKAHSEVFTKPSGQQTLSPDRQVPRPTALPRRQPTV +HFSDVSSDDDEDRLVIAT* +>line14385 NM_002114 c.3154_3155TT p.P1052L protein-altering (position 1052 changed from P to L) +MPRTKQIHPRNLRDKIEEAQKELNGAEVSKKEILQAGVKGTSESLKGVKRKKIVAENHLKKIPKSPLRNPLQAKHKQNTEESSFAVLHSASESHKKQNYI +PVKNGKQFTKQNGETPGIIAEASKSEESVSPKKPLFLQQPSELRRWRSEGADPAKFSDLDEQCDSSSLSSKTRTDNSECISSHCGTTSPSYTNTAFDVLL +KAMEPELSTLSQKGSPCAIKTEKLRPNKTARSPPKLKNSSMDAPNQTSQELVAESQSSCTSYTVHMSAAQKNEQGAMQSASHLYHQHEHFVPKSNQHNQQ +LPGCSGFTGSLTNLQNQENAKLEQVYNIAVTSSVGLTSPSSRSQVTPQNQQMDSASPLSISPANSTQSPPMPIYNSTHVASVVNQSVEQMCNLLLKDQKP +KKQGKYICEYCNRACAKPSVLLKHIRSHTGERPYPCVTCGFSFKTKSNLYKHKKSHAHTIKLGLVLQPDAGGLFLSHESPKALSIHSDVEDSGESEEEGA +TDERQHDLGAMELQPVHIIKRMSNAETLLKSSFTPSSPENVIGDFLLQDRSAESQAVTELPKVVVHHVTVSPLRTDSPKAMDPKPELSSAQKQKDLQVTN +VQPLSANMSQGGVSRLETNENSHQKGDMNPLEGKQDSHVGTVHAQLQRQQATDYSQEQQGKLLSPRSLGSTDSGYFSRSESADQTVSPPTPFARRLPSTE +QDSGRSNGPSAALVTTSTPSALPTGEKALLLPGQMRPPLATKTLEERISKLISDNEALVDDKQLDSVKPRRTSLSRRGSIDSPKSYIFKDSFQFDLKPVG +RRTSSSSDIPKSPFTPTEKSKQVFLLSVPSLDCLPITRSNSMPTTGYSAVPANIIPPPHPLRGSQSFDDKIGTFYDDVFVSGPNAPVPQSGHPRTLVRQA +AIEDSSANESHVLGTGQSLDESHQGCHAAGEAMSVRSKALAQGPHIEKKKSHQGRGTMFECETCRNRYRKLENFENHKKFYCSELHGPKTKVAMREPEHS +PVPGGLQPQILHYRVAGSSGIWEQTPQIRKRRKMKSVGDDEELQQNESGTSLKSSEGLQFQNALGCNPSLPKHNVTIRSDQQHKNIQLQNSHIHLVARGP +EQTMDPKLSTIMEQQISSAAQDKIELQRHGTGISVIQHTNSLSRPNSFDKPEPFERASPVSFQELNRTGKSGSLKVIGISQEESHPSRDGSHPHQLALSD +ALRGELQESSRKSPSERHVLGQPSRLVRQHNIQVPEILVTEEPDRDLEAQCHDQEKSEKFSWPQRSETLSKLPTEKLPPKKKRLRLAEIEHSSTESSFDS +TLSRSLSRESSLSHTSSFSASLDIEDVSKTEASPKIDFLNKAEFLMIPAGLNTLNVPGCHREMRRTASEQINCTQTSMEVSDLRSKSFDCGSITPPQTTP +LTELQPPSSPSRVGVTGHVPLLERRRGPLVRQISLNIAPDSHLSPVHPTSFQNTALPSVNAVPYQGPQLTSTSLAEFSANTLHSQTQVKDLQAETSNSSS +TNVFPVQQLCDINLLNQIHAPPSHQSTQLSLQVSTQGSKPDKNSVLSGSSKSEDCFAPKYQLHCQVFTSGPSCSSNPVHSLPNQVISDPVGTDHCVTSAT +LPTKLIDSMSNSHPLLPPELRPLGSQVQKVPSSFMLPIRLQSSVPAYCFATLTSLPQILVTQDLPNQPICQTNHSVVPISEEQNSVPTLQKGHQNALPNP +EKEFLCENVFSEMSQNSSLSESLPITQKISVGRLSPQQESSASSKRMLSPANSLDIAMEKHQKRAKDENGAVCATDVRPLEALSSRVNEASKQKKPILVR +QVCTTEPLDGVMLEKDVFSQPEISNEAVNLTNVLPADNSSTGCSKFVVIEPISELQEFENIKSSTSLTLTVRSSPAPSENTHISPLKCTDNNQERKSPGV +KNQGDKVNIQEQSQQPVTSLSLFNIKDTQQLAFPSLKTTTNFTWCYLLRQKSLHLPQKDQKTSAYTDWTVSASNPNPLGLPTKVALALLNSKQNTGKSLY +CQAITTHSKSDLLVYSSKWKSSLSKRALGNQKSTVVEFSNKDASEINSEQDKENSLIKSEPRRIKIFDGGYKSNEEYVYVRGRGRGKYICEECGIRCKKP +SMLKKHIRTHTDVRPYHCTYCNFSFKTKGNLTKHMKSKAHSKKCVDLGVSVGLIDEQDTEESDEKQRFSYERSGYDLEESDGPDEDDNENEDDDEDSQAE +SVLSATPSVTASPQHLPSRSSLQDPVSTDEDVRITDCFSGVHTDPMDVLPRALLTRMTVLSTAQSDYNRKTLSPGKARQRAARDENDTIPSVDTSRSPCH +QMSVDYPESEEILRSSMAGKAVAITQSPSSVRLPPAAAEHSPQTAAGMPSVASPHPDPQEQKQQITLQPTPGLPSPHTHLFSHLPLHSQQQSRTPYNMVP +VGGIHVVPAGLTYSTFVPLQAGPVQLTIPAVSVVHRTLGTHRNTVTEVSGTTNPAGVAELSSVVPCIPIGQIRVPGLQNLSTPGLQSLPSLSMETVNIVG +LANTNMAPQVHPPGLALNAVGLQVLTANPSSQSSPAPQAHIPGLQILNIALPTLIPSVSQVAVDAQGAPEMPASQSKACETQPKQTSVASANQVSRTESP +QGLPTVQRENAKKVLNPPAPAGDHARLDGLSKMDTEKAASANHVKPKPELTSIQGQPASTSQPLLKAHSEVFTKPSGQQTLSPDRQVPRPTALPRRQPTV +HFSDVSSDDDEDRLVIAT* +>line14615 NM_015695 WILDTYPE +MRKPRRKSRQNAEGRRSPSPYSLKCSPTRETLTYAQAQRIVEVDIDGRLHRISIYDPLKIITEDELTAQDITECNSNKENSEQPQFPGKSKKPSSKGKKK +ESCSKHASGTSFHLPQPSFRMVDSGIQPEAPPLPAAYYRYIEKPPEDLDAEVEYDMDEEDLAWLDMVNEKRRVDGHSLVSADTFELLVDRLEKESYLESR +SSGAQQSLIDEDAFCCVCLDDECHNSNVILFCDICNLAVHQECYGVPYIPEGQWLCRCCLQSPSRPVDCILCPNKGGAFKQTSDGHWAHVVCAIWIPEVC +FANTVFLEPIEGIDNIPPARWKLTCYICKQKGLGAAIQCHKVNCYTAFHVTCAQRAGLFMKIEPMRETSLNGTIFTVRKTAYCEAHSPPGAATARRKGDS +PRSISETGDEEGLKEGDGEEEEEEEVEEEEQEAQGGVSGSLKGVPKKSKMSLKQKIKKEPEEAGQDTPSTLPMLAVPQIPSYRLNKICSGLSFQRKNQFM +QRLHNYWLLKRQARNGVPLIRRLHSHLQSQRNAEQREQDEKTSAVKEELKYWQKLRHDLERARLLIELIRKREKLKREQVKVQQAAMELELMPFNVLLRT +TLDLLQEKDPAHIFAEPVNLSEVPDYLEFISKPMDFSTMRRKLESHLYRTLEEFEEDFNLIVTNCMKYNAKDTIFHRAAVRLRDLGGAILRHARRQAENI +GYDPERGTHLPESPKLEDFYRFSWEDVDNILIPENRAHLSPEVQLKELLEKLDLVSAMRSSGARTRRVRLLRREINALRQKLAQPPPPQPPSLNKTVSNG +ELPAGPQGDAAVLEQALQEEPEDDGDRDDSKLPPPPTLEPTGPAPSLSEQESPPEPPTLKPINDSKPPSRFLKPRKVEEDELLEKSPLQLGNEPLQRLLS +DNGINRLSLMAPDTPAGTPLSGVGRRTSVLFKKAKNGVKLQRSPDRVLENGEDHGVAGSPASPASIEEERHSRKRPRSRSCSESEGERSPQQEEETGMTN +GFGKHTESGSDSECSLGLSGGLAFEACSGLTPPKRSRGKPALSRVPFLEGVNGDSDYNGSGRSLLLPFEDRGDLEPLELVWAKCRGYPSYPALIIDPKMP +REGLLHNGVPIPVPPLDVLKLGEQKQAEAGEKLFLVLFFDNKRTWQWLPRDKVLPLGVEDTVDKLKMLEGRKTSIRKSVQVAYDRAMIHLSRVRGPHSFV +TSSYL* +>line14615 NM_015695 c.1017_1018TT p.H340Y protein-altering (position 340 changed from H to Y) +MRKPRRKSRQNAEGRRSPSPYSLKCSPTRETLTYAQAQRIVEVDIDGRLHRISIYDPLKIITEDELTAQDITECNSNKENSEQPQFPGKSKKPSSKGKKK +ESCSKHASGTSFHLPQPSFRMVDSGIQPEAPPLPAAYYRYIEKPPEDLDAEVEYDMDEEDLAWLDMVNEKRRVDGHSLVSADTFELLVDRLEKESYLESR +SSGAQQSLIDEDAFCCVCLDDECHNSNVILFCDICNLAVHQECYGVPYIPEGQWLCRCCLQSPSRPVDCILCPNKGGAFKQTSDGHWAHVVCAIWIPEVC +FANTVFLEPIEGIDNIPPARWKLTCYICKQKGLGAAIQCYKVNCYTAFHVTCAQRAGLFMKIEPMRETSLNGTIFTVRKTAYCEAHSPPGAATARRKGDS +PRSISETGDEEGLKEGDGEEEEEEEVEEEEQEAQGGVSGSLKGVPKKSKMSLKQKIKKEPEEAGQDTPSTLPMLAVPQIPSYRLNKICSGLSFQRKNQFM +QRLHNYWLLKRQARNGVPLIRRLHSHLQSQRNAEQREQDEKTSAVKEELKYWQKLRHDLERARLLIELIRKREKLKREQVKVQQAAMELELMPFNVLLRT +TLDLLQEKDPAHIFAEPVNLSEVPDYLEFISKPMDFSTMRRKLESHLYRTLEEFEEDFNLIVTNCMKYNAKDTIFHRAAVRLRDLGGAILRHARRQAENI +GYDPERGTHLPESPKLEDFYRFSWEDVDNILIPENRAHLSPEVQLKELLEKLDLVSAMRSSGARTRRVRLLRREINALRQKLAQPPPPQPPSLNKTVSNG +ELPAGPQGDAAVLEQALQEEPEDDGDRDDSKLPPPPTLEPTGPAPSLSEQESPPEPPTLKPINDSKPPSRFLKPRKVEEDELLEKSPLQLGNEPLQRLLS +DNGINRLSLMAPDTPAGTPLSGVGRRTSVLFKKAKNGVKLQRSPDRVLENGEDHGVAGSPASPASIEEERHSRKRPRSRSCSESEGERSPQQEEETGMTN +GFGKHTESGSDSECSLGLSGGLAFEACSGLTPPKRSRGKPALSRVPFLEGVNGDSDYNGSGRSLLLPFEDRGDLEPLELVWAKCRGYPSYPALIIDPKMP +REGLLHNGVPIPVPPLDVLKLGEQKQAEAGEKLFLVLFFDNKRTWQWLPRDKVLPLGVEDTVDKLKMLEGRKTSIRKSVQVAYDRAMIHLSRVRGPHSFV +TSSYL* +>line14715 NM_001168370 WILDTYPE +MSRGFWLAEPLAGTGPHPAPVAADSRGCSSVPRRHAPSRLSVSTPSRGPGARMVGELRYREFRVPLGPGLHAYPDELIRQRVGHDGHPEYQIRWLILRRG +DEGDGGSGQVDCKAEHILLWMSKDEIYANCHKMLGEDGQVIGPSQESAGEVGALDKSVLEEMETDVKSLIQRALRQLEECVGTIPPAPLLHTVHVLSAYA +SIEPLTGVFKDPRVLDLLMHMLSSPDYQIRWSAGRMIQALSSHDAGEGQCGEEGKAGEGLGRLRDSQDTVAGASDLIRTRTQILLSLSQQEAIEKHLDFD +SRCALLALFAQATLSEHPMSFEGIQLPQVPGRVLFSLVKRYLHVTSLLDQLNDSAAEPGAQNTSAPEELSGERGQLELEFSMAMGTLISELVQAMRWDQA +SDRPRSSARSPGSIFQPQLADVSPGLPAAQAQPSFRRSRRFRPRSEFASGNTYALYVRDTLQPGMRVRMLDDYEEISAGDEGEFRQSNNGVPPVQVFWES +TGRTYWVHWHMLEILGFEEDIEDMVEADEYQGAVASRVLGRALPAWRWRPMTELYAVPYVLPEDEDTEECEHLTLAEWWELLFFIKKLDGPDHQEVLQIL +QENLDGEILDDEILAELAVPIELAQDLLLTLPQRLNDSALRDLINCHVYKKYGPEALAGNQAYPSLLEAQEDVLLLDAQAQAKDSEDAAKVEAKEPPSQS +PNTPLQRLVEGYGPAGKILLDLEQALSSEGTQENKVKPLLLQLQRQPQPFLALMQSLDTPETNRTLHLTVLRILKQLVDFPEALLLPWHEAVDACMACLR +SPNTDREVLQELIFFLHRLTSVSRDYAVVLNQLGARDAISKALEKHLGKLELAQELRDMVFKCEKHAHLYRKLITNILGGCIQMVLGQIEDHRRTHQPIN +IPFFDVFLRYLCQGSSVEVKEDKCWEKVEVSSNPHRASKLTDHNPKTYWESNGSAGSHYITLHMRRGILIRQLTLLVASEDSSYMPARVVVCGGDSTSSL +HTELNSVNVMPSASRVILLENLTRFWPIIQIRIKRCQQGGIDTRIRGLEILGPKPTFWPVFREQLCRHTRLFYMVRAQAWSQDMAEDRRSLLHLSSRLNG +ALRQEQNFADRFLPDDEAAQALGKTCWEALVSPVVQNITSPDEDGISPLGWLLDQYLECQEAVFNPQSRGPAFFSRVRRLTHLLVHVEPCEAPPPVVATP +RPKGRNRSHDWSSLATRGLPSSIMRNLTRCWRAVVEKQVNNFLTSSWRDDDFVPRYCEHFNILQNSSSELFGPRAAFLLALQNGCAGALLKLPFLKAAHV +SEQFARHIDQQIQGSRIGGAQEMERLAQLQQCLQAVLIFSGLEIATTFEHYYQHYMADRLLGVVSSWLEGAVLEQIGPCFPNRLPQQMLQSLSTSKELQR +QFHVYQLQQLDQELLKLEDTEKKIQVGLGASGKEHKSEKEEEAGAAAVVDVAEGEEEEEENEDLYYEGAMPEVSVLVLSRHSWPVASICHTLNPRTCLPS +YLRGTLNRYSNFYNKSQSHPALERGSQRRLQWTWLGWAELQFGNQTLHVSTVQMWLLLYLNDLKAVSVESLLAFSGLSADMLNQAIGPLTSSRGPLDLHE +QKDIPGGVLKIRDGSKEPRSRWDIVRLIPPQTYLQAEGEDGQNLEKRRNLLNCLIVRILKAHGDEGLHIDQLVCLVLEAWQKGPCPPRGLVSSLGKGSAC +SSTDVLSCILHLLGKGTLRRHDDRPQVLSYAVPVTVMEPHTESLNPGSSGPNPPLTFHTLQIRSRGVPYASCTATQSFSTFR* +>line14715 NM_001168370 c.2690_2691GG p.Q897R protein-altering (position 897 changed from Q to R) +MSRGFWLAEPLAGTGPHPAPVAADSRGCSSVPRRHAPSRLSVSTPSRGPGARMVGELRYREFRVPLGPGLHAYPDELIRQRVGHDGHPEYQIRWLILRRG +DEGDGGSGQVDCKAEHILLWMSKDEIYANCHKMLGEDGQVIGPSQESAGEVGALDKSVLEEMETDVKSLIQRALRQLEECVGTIPPAPLLHTVHVLSAYA +SIEPLTGVFKDPRVLDLLMHMLSSPDYQIRWSAGRMIQALSSHDAGEGQCGEEGKAGEGLGRLRDSQDTVAGASDLIRTRTQILLSLSQQEAIEKHLDFD +SRCALLALFAQATLSEHPMSFEGIQLPQVPGRVLFSLVKRYLHVTSLLDQLNDSAAEPGAQNTSAPEELSGERGQLELEFSMAMGTLISELVQAMRWDQA +SDRPRSSARSPGSIFQPQLADVSPGLPAAQAQPSFRRSRRFRPRSEFASGNTYALYVRDTLQPGMRVRMLDDYEEISAGDEGEFRQSNNGVPPVQVFWES +TGRTYWVHWHMLEILGFEEDIEDMVEADEYQGAVASRVLGRALPAWRWRPMTELYAVPYVLPEDEDTEECEHLTLAEWWELLFFIKKLDGPDHQEVLQIL +QENLDGEILDDEILAELAVPIELAQDLLLTLPQRLNDSALRDLINCHVYKKYGPEALAGNQAYPSLLEAQEDVLLLDAQAQAKDSEDAAKVEAKEPPSQS +PNTPLQRLVEGYGPAGKILLDLEQALSSEGTQENKVKPLLLQLQRQPQPFLALMQSLDTPETNRTLHLTVLRILKQLVDFPEALLLPWHEAVDACMACLR +SPNTDREVLQELIFFLHRLTSVSRDYAVVLNQLGARDAISKALEKHLGKLELAQELRDMVFKCEKHAHLYRKLITNILGGCIQMVLGQIEDHRRTHRPIN +IPFFDVFLRYLCQGSSVEVKEDKCWEKVEVSSNPHRASKLTDHNPKTYWESNGSAGSHYITLHMRRGILIRQLTLLVASEDSSYMPARVVVCGGDSTSSL +HTELNSVNVMPSASRVILLENLTRFWPIIQIRIKRCQQGGIDTRIRGLEILGPKPTFWPVFREQLCRHTRLFYMVRAQAWSQDMAEDRRSLLHLSSRLNG +ALRQEQNFADRFLPDDEAAQALGKTCWEALVSPVVQNITSPDEDGISPLGWLLDQYLECQEAVFNPQSRGPAFFSRVRRLTHLLVHVEPCEAPPPVVATP +RPKGRNRSHDWSSLATRGLPSSIMRNLTRCWRAVVEKQVNNFLTSSWRDDDFVPRYCEHFNILQNSSSELFGPRAAFLLALQNGCAGALLKLPFLKAAHV +SEQFARHIDQQIQGSRIGGAQEMERLAQLQQCLQAVLIFSGLEIATTFEHYYQHYMADRLLGVVSSWLEGAVLEQIGPCFPNRLPQQMLQSLSTSKELQR +QFHVYQLQQLDQELLKLEDTEKKIQVGLGASGKEHKSEKEEEAGAAAVVDVAEGEEEEEENEDLYYEGAMPEVSVLVLSRHSWPVASICHTLNPRTCLPS +YLRGTLNRYSNFYNKSQSHPALERGSQRRLQWTWLGWAELQFGNQTLHVSTVQMWLLLYLNDLKAVSVESLLAFSGLSADMLNQAIGPLTSSRGPLDLHE +QKDIPGGVLKIRDGSKEPRSRWDIVRLIPPQTYLQAEGEDGQNLEKRRNLLNCLIVRILKAHGDEGLHIDQLVCLVLEAWQKGPCPPRGLVSSLGKGSAC +SSTDVLSCILHLLGKGTLRRHDDRPQVLSYAVPVTVMEPHTESLNPGSSGPNPPLTFHTLQIRSRGVPYASCTATQSFSTFR* +>line15604 NM_001858 WILDTYPE +MRLTGPWKLWLWMSIFLLPASTSVTVRDKTEESCPILRIEGHQLTYDNINKLEVSGFDLGDSFSLRRAFCESDKTCFKLGSALLIRDTIKIFPKGLPEEY +SVAAMFRVRRNAKKERWFLWQVLNQQNIPQISIVVDGGKKVVEFMFQATEGDVLNYIFRNRELRPLFDRQWHKLGISIQSQVISLYMDCNLIARRQTDEK +DTVDFHGRTVIATRASDGKPVDIELHQLKIYCSANLIAQETCCEISDTKCPEQDGFGNIASSWVTAHASKMSSYLPAKQELKDQCQCIPNKGEAGLPGAP +GSPGQKGHKGEPGENGLHGAPGFPGQKGEQGFEGSKGETGEKGEQGEKGDPALAGLNGENGLKGDLGPHGPPGPKGEKGDTGPPGPPALPGSLGIQGPQG +PPGKEGQRGRRGKTGPPGKPGPPGPPGPPGIQGIHQTLGGYYNKDNKGNDEHEAGGLKGDKGETGLPGFPGSVGPKGQKGEPGEPFTKGEKGDRGEPGVI +GSQGVKGEPGDPGPPGLIGSPGLKGQQGSAGSMGPRGPPGDVGLPGEHGIPGKQGIKGEKGDPGGIIGPPGLPGPKGEAGPPGKSLPGEPGLDGNPGAPG +PRGPKGERGLPGVHGSPGDIGPQGIGIPGRTGAQGPAGEPGIQGPRGLPGLPGTPGTPGNDGVPGRDGKPGLPGPPGDPIALPLLGDIGALLKNFCGNCQ +ASVPGLKSNKGEEGGAGEPGKYDSMARKGDIGPRGPPGIPGREGPKGSKGERGYPGIPGEKGDEGLQGIPGIPGAPGPTGPPGLMGRTGHPGPTGAKGEK +GSDGPPGKPGPPGPPGIPFNERNGMSSLYKIKGGVNVPSYPGPPGPPGPKGDPGPVGEPGAMGLPGLEGFPGVKGDRGPAGPPGIAGMSGKPGAPGPPGV +PGEPGERGPVGDIGFPGPEGPSGKPGINGKDGIPGAQGIMGKPGDRGPKGERGDQGIPGDRGSQGERGKPGLTGMKGAIGPMGPPGNKGSMGSPGHQGPP +GSPGIPGIPADAVSFEEIKKYINQEVLRIFEERMAVFLSQLKLPAAMLAAQAYGRPGPPGKDGLPGPPGDPGPQGYRGQKGERGEPGIGLPGSPGLPGTS +ALGLPGSPGAPGPQGPPGPSGRCNPEDCLYPVSHAHQRTGGN* +>line15604 NM_001858 c.2133_2135del p.E713del protein-altering (position 713 changed from E to ) +MRLTGPWKLWLWMSIFLLPASTSVTVRDKTEESCPILRIEGHQLTYDNINKLEVSGFDLGDSFSLRRAFCESDKTCFKLGSALLIRDTIKIFPKGLPEEY +SVAAMFRVRRNAKKERWFLWQVLNQQNIPQISIVVDGGKKVVEFMFQATEGDVLNYIFRNRELRPLFDRQWHKLGISIQSQVISLYMDCNLIARRQTDEK +DTVDFHGRTVIATRASDGKPVDIELHQLKIYCSANLIAQETCCEISDTKCPEQDGFGNIASSWVTAHASKMSSYLPAKQELKDQCQCIPNKGEAGLPGAP +GSPGQKGHKGEPGENGLHGAPGFPGQKGEQGFEGSKGETGEKGEQGEKGDPALAGLNGENGLKGDLGPHGPPGPKGEKGDTGPPGPPALPGSLGIQGPQG +PPGKEGQRGRRGKTGPPGKPGPPGPPGPPGIQGIHQTLGGYYNKDNKGNDEHEAGGLKGDKGETGLPGFPGSVGPKGQKGEPGEPFTKGEKGDRGEPGVI +GSQGVKGEPGDPGPPGLIGSPGLKGQQGSAGSMGPRGPPGDVGLPGEHGIPGKQGIKGEKGDPGGIIGPPGLPGPKGEAGPPGKSLPGEPGLDGNPGAPG +PRGPKGERGLPGVHGSPGDIGPQGIGIPGRTGAQGPAGEPGIQGPRGLPGLPGTPGTPGNDGVPGRDGKPGLPGPPGDPIALPLLGDIGALLKNFCGNCQ +ASVPGLKSNKGEGGAGEPGKYDSMARKGDIGPRGPPGIPGREGPKGSKGERGYPGIPGEKGDEGLQGIPGIPGAPGPTGPPGLMGRTGHPGPTGAKGEKG +SDGPPGKPGPPGPPGIPFNERNGMSSLYKIKGGVNVPSYPGPPGPPGPKGDPGPVGEPGAMGLPGLEGFPGVKGDRGPAGPPGIAGMSGKPGAPGPPGVP +GEPGERGPVGDIGFPGPEGPSGKPGINGKDGIPGAQGIMGKPGDRGPKGERGDQGIPGDRGSQGERGKPGLTGMKGAIGPMGPPGNKGSMGSPGHQGPPG +SPGIPGIPADAVSFEEIKKYINQEVLRIFEERMAVFLSQLKLPAAMLAAQAYGRPGPPGKDGLPGPPGDPGPQGYRGQKGERGEPGIGLPGSPGLPGTSA +LGLPGSPGAPGPQGPPGPSGRCNPEDCLYPVSHAHQRTGGN* +>line15615 NM_001281439 WILDTYPE +MATRSCREKAQKLNEQHQLILSKLLREEDNKYCADCEAKGPRWASWNIGVFICIRCAGIHRNLGVHISRVKSVNLDQWTAEQIQCMQDMGNTKARLLYEA +NLPENFRRPQTDQAVEFFIRDKYEKKKYYDKNAIAITNKEKEKKKEEKKREKEPEKPAKPLTAEKLQKKDQQLEPKKSTSPKKAAEPTVDLLGLDGPAVA +PVTNGNTTVPPLNDDLDIFGPMISNPLPATVMPPAQGTPSAPAAATLSTVTSGDLDLFTEQTTKSEEVAKKQLSKDSILSLYGTGTIQQQSTPGVFMGPT +NIPFTSQAPAAFQGFPSMGVPVPAAPGLIGNVMGQSPSMMVGMPMPNGFMGNAQTGVMPLPQNVVGPQGGMVGQMGAPQSKFGLPQAQQPQWSLSQIMQK +GDAVLQHSISAIYWPMTRWLKCPLVDESADGWHEYQ* +>line15615 NM_001281439 c.425delA p.K145Rfs*47 protein-altering (position 145-436 changed from KEEKKREKEPEKPAKPLTAEKLQKKDQQLEPKKSTSPKKAAEPTVDLLGLDGPAVAPVTNGNTTVPPLNDDLDIFGPMISNPLPATVMPPAQGTPSAPAAATLSTVTSGDLDLFTEQTTKSEEVAKKQLSKDSILSLYGTGTIQQQSTPGVFMGPTNIPFTSQAPAAFQGFPSMGVPVPAAPGLIGNVMGQSPSMMVGMPMPNGFMGNAQTGVMPLPQNVVGPQGGMVGQMGAPQSKFGLPQAQQPQWSLSQIMQKGDAVLQHSISAIYWPMTRWLKCPLVDESADGWHEYQ to RKRKREKRSQKSRQNHLQLKSCRRKISNWSLKKVPALKKLRSPLWIF) +MATRSCREKAQKLNEQHQLILSKLLREEDNKYCADCEAKGPRWASWNIGVFICIRCAGIHRNLGVHISRVKSVNLDQWTAEQIQCMQDMGNTKARLLYEA +NLPENFRRPQTDQAVEFFIRDKYEKKKYYDKNAIAITNKEKEKKRKRKREKRSQKSRQNHLQLKSCRRKISNWSLKKVPALKKLRSPLWIF* +>line15839 NM_145331 WILDTYPE +MSTASAASSSSSSSAGEMIEAPSQVLNFEEIDYKEIEVEEVVGRGAFGVVCKAKWRAKDVAIKQIESESERKAFIVELRQLSRVNHPNIVKLYGACLNPV +CLVMEYAEGGSLYNVLHGAEPLPYYTAAHAMSWCLQCSQGVAYLHSMQPKALIHRDLKPPNLLLVAGGTVLKICDFGTACDIQTHMTNNKGSAAWMAPEV +FEGSNYSEKCDVFSWGIILWEVITRRKPFDEIGGPAFRIMWAVHNGTRPPLIKNLPKPIESLMTRCWSKDPSQRPSMEEIVKIMTHLMRYFPGADEPLQY +PCQYSDEGQSNSATSTGSFMDIASTNTSNKSDTNMEQVPATNDTIKRLESKLLKNQAKQQSESGRLSLGASRGSSVESLPPTSEGKRMSADMSEIEARIA +ATTAYSKPKRGHRKTASFGNILDVPEIVISGNGQPRRRSIQDLTVTGTEPGQVSSRSSSPSVRMITTSGPTSEKPTRSHPWTPDDSTDTNGSDNSIPMAY +LTLDHQLQPLAPCPNSKESMAVFEQHCKMAQEYMKVQTEIALLLQRKQELVAELDQDEKDQQNTSRLVQEHKKLLDENKSLSTYYQQCKKQLEVIRSQQQ +KRQGTS* +>line15839 NM_145331 c.33_35del p.S14del protein-altering (position 14 changed from S to ) +MSTASAASSSSSSAGEMIEAPSQVLNFEEIDYKEIEVEEVVGRGAFGVVCKAKWRAKDVAIKQIESESERKAFIVELRQLSRVNHPNIVKLYGACLNPVC +LVMEYAEGGSLYNVLHGAEPLPYYTAAHAMSWCLQCSQGVAYLHSMQPKALIHRDLKPPNLLLVAGGTVLKICDFGTACDIQTHMTNNKGSAAWMAPEVF +EGSNYSEKCDVFSWGIILWEVITRRKPFDEIGGPAFRIMWAVHNGTRPPLIKNLPKPIESLMTRCWSKDPSQRPSMEEIVKIMTHLMRYFPGADEPLQYP +CQYSDEGQSNSATSTGSFMDIASTNTSNKSDTNMEQVPATNDTIKRLESKLLKNQAKQQSESGRLSLGASRGSSVESLPPTSEGKRMSADMSEIEARIAA +TTAYSKPKRGHRKTASFGNILDVPEIVISGNGQPRRRSIQDLTVTGTEPGQVSSRSSSPSVRMITTSGPTSEKPTRSHPWTPDDSTDTNGSDNSIPMAYL +TLDHQLQPLAPCPNSKESMAVFEQHCKMAQEYMKVQTEIALLLQRKQELVAELDQDEKDQQNTSRLVQEHKKLLDENKSLSTYYQQCKKQLEVIRSQQQK +RQGTS* +>line16003 NM_001145128 WILDTYPE +MTSQEKTEEYPFADIFDEDETERNFLLSKPVCFVVFGKPGVGKTTLARYITQAWKCIRVEALPILEEQIAAETESGVMLQSMLISGQSIPDELVIKLMLE +KLNSPEVCHFGYIITEIPSLSQDAMTTLQQIELIKNLNLKPDVIINIKCPDYDLCQRISGQRQHNNTGYIYSRDQWDPEVIENHRKKKKEAQKDGKGEEE +EEEEEQEEEEAFIAEMQMVAEILHHLVQRPEDYLENVENIVKLYKETILQTLEEVMAEHNPQYLIELNGNKPAEELFMIVMDRLKYLNLKRAAILTKLQG +AEEEINDTMENDELFRTLASYKLIAPRYRWQRSKWGRTCPVNLKDGNIYSGLPDYSVSFLGKIYCLSSEEALKPFLLNPRPYLLPPMPGPPCKVFILGPQ +YSGKTTLCNMLAENYKGKVVDYAQLVQPRFDKARETLVENTIAEATAAAIKVVKEKLLRELQARKQAETALREFQRQYEKMEFGVFPMEATHSSIDEEGY +IQGSQRDRGSSLVDTEEAKTKSENVLHDQAAKVDKDDGKETGETFTFKRHSQDASQDVKLYSDTAPTEDLIEEVTADHPEVVTMIEETIKMSQDINFEQP +YEKHAEILQEVLGEVMEENKDRFPGAPKYGGWIVDNCPIVKELWMALIKKGIIPDLVIYLSDTENNGKCLFNRIYLQKKSEIDSKILERLLEELQKKKKE +EEEARKATEEELRLEEENRRLLELMKVKAKEAEETDNEDEEEIEGDELEVHEEPEASHDTRGSWLPEEFEASEVPETEPEAVSEPIEETTVETEIPKGSK +EGLEIEKLSETVVLPEFPEDSYPDVPEMEPFKEKIGSFIILWKQLEATISEAYIKILNLEIADRTPQELLQKVVETMEKPFQYTAWELTGEDYEEETEDY +QTEAEVDEELEEEEEEEGEDKMKERKRHLGDTKHFCPVVLKENFILQPGNTEEAAKYREKIYYFSSAEAKEKFLEHPEDYVAHEEPLKAPPLRICLVGPQ +GSGKTMCGRQLAEKLNIFHIQFEEVLQEKLLLKTEKKVGPEFEEDSENEQAAKQELEELAIQANVKVEEENTKKQLPEVQLTEEEEVIKSSLMENEPLPP +EILEVILSEWWLKEPIRSTGFILDGFPRYPEEAQFLGDRGFFPDAAVFIQVDDQDIFDRLLPAQIEKWKLKQKKKLERKKLIKDMKAKIRVDTIAKRRAE +LILERDKKRRENVVRDDEEISEEELEEDNDDIENILEDEFPKDEEEMSGEEDEEQETDAIERLRGELGEKFEADTHNLQIIQDELERYLIPIISINGARR +NHIVQYTLNMKLKPLVENRASIFEKCHPIPAPLAQKMLTFTYKYISSFGYWDPVKLSEGETIKPVENAENPIYPVIHRQYIYFLSSKETKEKFMKNPIKY +IRQPKPKPTVPIRIIIVGPPKSGKTTVAKKITSEYGLKHLSIGGALRYVLNNHPETELALMLNWHLHKGMTAPDELAIQALELSLMESVCNTAGVVIDGY +PVTKHQMNLLEARSIIPMVIFELSVPSKEIFKRLLLEKENEQRLPYPLHNSAQIVAVNNVKYRKNIGEIRQYYQEQHQNWYVIDGFHSKWWVWNEVIKNV +QMVNKYMQTYLERIKAGKAACIDKLCITPQELLSRLGEFEQFCPVSLAESQELFDCSATDSLEFAAEFRGHYYKMSSQEKLNKFLENPELYVPPLAPHPL +PSADMIPKRLTLSELKSRFPKCAELQGYCPVTYKDGNQRYEALVPGSINYALEYHNRIYICENKEKLQKFLRSPLKYWEQKLPHKLPPLREPILLTSLPL +PGYLEQGIATSLIKAMNAAGCLKPKFPFLSIRRSALLYIALHLKAFNPKGSEYTRKKYKKKMEQFMESCELITYLGAKMTRKYKEPQFRAIDFDHKLKTF +LSLRNIDPING* +>line16003 NM_001145128 c.2108_2110del p.E703del protein-altering (position 703 changed from E to ) +MTSQEKTEEYPFADIFDEDETERNFLLSKPVCFVVFGKPGVGKTTLARYITQAWKCIRVEALPILEEQIAAETESGVMLQSMLISGQSIPDELVIKLMLE +KLNSPEVCHFGYIITEIPSLSQDAMTTLQQIELIKNLNLKPDVIINIKCPDYDLCQRISGQRQHNNTGYIYSRDQWDPEVIENHRKKKKEAQKDGKGEEE +EEEEEQEEEEAFIAEMQMVAEILHHLVQRPEDYLENVENIVKLYKETILQTLEEVMAEHNPQYLIELNGNKPAEELFMIVMDRLKYLNLKRAAILTKLQG +AEEEINDTMENDELFRTLASYKLIAPRYRWQRSKWGRTCPVNLKDGNIYSGLPDYSVSFLGKIYCLSSEEALKPFLLNPRPYLLPPMPGPPCKVFILGPQ +YSGKTTLCNMLAENYKGKVVDYAQLVQPRFDKARETLVENTIAEATAAAIKVVKEKLLRELQARKQAETALREFQRQYEKMEFGVFPMEATHSSIDEEGY +IQGSQRDRGSSLVDTEEAKTKSENVLHDQAAKVDKDDGKETGETFTFKRHSQDASQDVKLYSDTAPTEDLIEEVTADHPEVVTMIEETIKMSQDINFEQP +YEKHAEILQEVLGEVMEENKDRFPGAPKYGGWIVDNCPIVKELWMALIKKGIIPDLVIYLSDTENNGKCLFNRIYLQKKSEIDSKILERLLEELQKKKKE +EEARKATEEELRLEEENRRLLELMKVKAKEAEETDNEDEEEIEGDELEVHEEPEASHDTRGSWLPEEFEASEVPETEPEAVSEPIEETTVETEIPKGSKE +GLEIEKLSETVVLPEFPEDSYPDVPEMEPFKEKIGSFIILWKQLEATISEAYIKILNLEIADRTPQELLQKVVETMEKPFQYTAWELTGEDYEEETEDYQ +TEAEVDEELEEEEEEEGEDKMKERKRHLGDTKHFCPVVLKENFILQPGNTEEAAKYREKIYYFSSAEAKEKFLEHPEDYVAHEEPLKAPPLRICLVGPQG +SGKTMCGRQLAEKLNIFHIQFEEVLQEKLLLKTEKKVGPEFEEDSENEQAAKQELEELAIQANVKVEEENTKKQLPEVQLTEEEEVIKSSLMENEPLPPE +ILEVILSEWWLKEPIRSTGFILDGFPRYPEEAQFLGDRGFFPDAAVFIQVDDQDIFDRLLPAQIEKWKLKQKKKLERKKLIKDMKAKIRVDTIAKRRAEL +ILERDKKRRENVVRDDEEISEEELEEDNDDIENILEDEFPKDEEEMSGEEDEEQETDAIERLRGELGEKFEADTHNLQIIQDELERYLIPIISINGARRN +HIVQYTLNMKLKPLVENRASIFEKCHPIPAPLAQKMLTFTYKYISSFGYWDPVKLSEGETIKPVENAENPIYPVIHRQYIYFLSSKETKEKFMKNPIKYI +RQPKPKPTVPIRIIIVGPPKSGKTTVAKKITSEYGLKHLSIGGALRYVLNNHPETELALMLNWHLHKGMTAPDELAIQALELSLMESVCNTAGVVIDGYP +VTKHQMNLLEARSIIPMVIFELSVPSKEIFKRLLLEKENEQRLPYPLHNSAQIVAVNNVKYRKNIGEIRQYYQEQHQNWYVIDGFHSKWWVWNEVIKNVQ +MVNKYMQTYLERIKAGKAACIDKLCITPQELLSRLGEFEQFCPVSLAESQELFDCSATDSLEFAAEFRGHYYKMSSQEKLNKFLENPELYVPPLAPHPLP +SADMIPKRLTLSELKSRFPKCAELQGYCPVTYKDGNQRYEALVPGSINYALEYHNRIYICENKEKLQKFLRSPLKYWEQKLPHKLPPLREPILLTSLPLP +GYLEQGIATSLIKAMNAAGCLKPKFPFLSIRRSALLYIALHLKAFNPKGSEYTRKKYKKKMEQFMESCELITYLGAKMTRKYKEPQFRAIDFDHKLKTFL +SLRNIDPING* +>line16084 NM_003309 WILDTYPE +MSGLDGVKRTTPLQTHSIIISDQVPSDQDAHQYLRLRDQSEATQVMAEPGEGGSETVALPPPPPSEEGGVPQDAAGRGGTPQIRVVGGRGHVAIKAGQEE +GQPPAEGLAAASVVMAADRSLKKGVQGGEKALEICGAQRSASELTAGAEAEAEEVKTGKCATVSAAVAERESAEVVKEGLAEKEVMEEQMEVEEQPPEGE +EIEVAEEDRLEEEAREEEGPWPLHEALRMDPLEAIQLELDTVNAQADRAFQQLEHKFGRMRRHYLERRNYIIQNIPGFWMTAFRNHPQLSAMIRGQDAEM +LRYITNLEVKELRHPRTGCKFKFFFRRNPYFRNKLIVKEYEVRSSGRVVSLSTPIIWRRGHEPQSFIRRNQDLICSFFTWFSDHSLPESDKIAEIIKEDL +WPNPLQYYLLREGVRRARRRPLREPVEIPRPFGFQSG* +>line16084 NM_003309 c.528_529insGTG p.V176_K177insV protein-altering (position 176-177 has insertion V) +MSGLDGVKRTTPLQTHSIIISDQVPSDQDAHQYLRLRDQSEATQVMAEPGEGGSETVALPPPPPSEEGGVPQDAAGRGGTPQIRVVGGRGHVAIKAGQEE +GQPPAEGLAAASVVMAADRSLKKGVQGGEKALEICGAQRSASELTAGAEAEAEEVKTGKCATVSAAVAERESAEVVVKEGLAEKEVMEEQMEVEEQPPEG +EEIEVAEEDRLEEEAREEEGPWPLHEALRMDPLEAIQLELDTVNAQADRAFQQLEHKFGRMRRHYLERRNYIIQNIPGFWMTAFRNHPQLSAMIRGQDAE +MLRYITNLEVKELRHPRTGCKFKFFFRRNPYFRNKLIVKEYEVRSSGRVVSLSTPIIWRRGHEPQSFIRRNQDLICSFFTWFSDHSLPESDKIAEIIKED +LWPNPLQYYLLREGVRRARRRPLREPVEIPRPFGFQSG* +>line16427 NM_005100 WILDTYPE +MGAGSSTEQRSPEQPPEGSSTPAEPEPSGGGPSAEAAPDTTADPAIAASDPATKLLQKNGQLSTINGVAEQDELSLQEGDLNGQKGALNGQGALNSQEEE +EVIVTEVGQRDSEDVSKRDSDKEMATKSAVVHDITDDGQEETPEIIEQIPSSESNLEELTQPTESQANDIGFKKVFKFVGFKFTVKKDKTEKPDTVQLLT +VKKDEGEGAAGAGDHKDPSLGAGEAASKESEPKQSTEKPEETLKREQSHAEISPPAESGQAVEECKEEGEEKQEKEPSKSAESPTSPVTSETGSTFKKFF +TQGWAGWRKKTSFRKPKEDEVEASEKKKEQEPEKVDTEEDGKAEVASEKLTASEQAHPQEPAESAHEPRLSAEYEKVELPSEEQVSGSQGPSEEKPAPLA +TEVFDEKIEVHQEEVVAEVHVSTVEERTEEQKTEVEETAGSVPAEELVEMDAEPQEAEPAKELVKLKETCVSGEDPTQGADLSPDEKVLSKPPEGVVSEV +EMLSSQERMKVQGSPLKKLFTSTGLKKLSGKKQKGKRGGGDEESGEHTQVPADSPDSQEEQKGESSASSPEEPEEITCLEKGLAEVQQDGEAEEGATSDG +EKKREGVTPWASFKKMVTPKKRVRRPSESDKEDELDKVKSATLSSTESTASEMQEEMKGSVEEPKPEEPKRKVDTSVSWEALICVGSSKKRARRGSSSDE +EGGPKAMGGDHQKADEAGKDKETGTDGILAGSQEHDPGQGSSSPEQAGSPTEGEGVSTWESFKRLVTPRKKSKSKLEEKSEDSIAGSGVEHSTPDTEPGK +EESWVSIKKFIPGRRKKRPDGKQEQAPVEDAGPTGANEDDSDVPAVVPLSEYDAVEREKMEAQQAQKSAEQPEQKAATEVSKELSESQVHMMAAAVADGT +RAATIIEERSPSWISASVTEPLEQVEAEAALLTEEVLEREVIAEEEPPTVTEPLPENREARGDTVVSEAELTPEAVTAAETAGPLGAEEGTEASAAEETT +EMVSAVSQLTDSPDTTEEATPVQEVEGGVPDIEEQERRTQEVLQAVAEKVKEESQLPGTGGPEDVLQPVQRAEAERPEEQAEASGLKKETDVVLKVDAQE +AKTEPFTQGKVVGQTTPESFEKAPQVTESIESSELVTTCQAETLAGVKSQEMVMEQAIPPDSVETPTDSETDGSTPVADFDAPGTTQKDEIVEIHEENEV +ASGTQSGGTEAEAVPAQKERPPAPSSFVFQEETKEQSKMEDTLEHTDKEVSVETVSILSKTEGTQEADQYADEKTKDVPFFEGLEGSIDTGITVSREKVT +EVALKGEGTEEAECKKDDALELQSHAKSPPSPVEREMVVQVEREKTEAEPTHVNEEKLEHETAVTVSEEVSKQLLQTVNVPIIDGAKEVSSLEGSPPPCL +GQEEAVCTKIQVQSSEASFTLTAAAEEEKVLGETANILETGETLEPAGAHLVLEEKSSEKNEDFAAHPGEDAVPTGPDCQAKSTPVIVSATTKKGLSSDL +EGEKTTSLKWKSDEVDEQVACQEVKVSVAIEDLEPENGILELETKSSKLVQNIIQTAVDQFVRTEETATEMLTSELQTQAHVIKADSQDAGQETEKEGEE +PQASAQDETPITSAKEESESTAVGQAHSDISKDMSEASEKTMTVEVEGSTVNDQQLEEVVLPSEEEGGGAGTKSVPEDDGHALLAERIEKSLVEPKEDEK +GDDVDDPENQNSALADTDASGGLTKESPDTNGPKQKEKEDAQEVELQEGKVHSESDKAITPQAQEELQKQERESAKSELTES* +>line16427 NM_005100 c.4590_4591insGAG p.E1531_D1532insE protein-altering (position 1531-1532 has insertion E) +MGAGSSTEQRSPEQPPEGSSTPAEPEPSGGGPSAEAAPDTTADPAIAASDPATKLLQKNGQLSTINGVAEQDELSLQEGDLNGQKGALNGQGALNSQEEE +EVIVTEVGQRDSEDVSKRDSDKEMATKSAVVHDITDDGQEETPEIIEQIPSSESNLEELTQPTESQANDIGFKKVFKFVGFKFTVKKDKTEKPDTVQLLT +VKKDEGEGAAGAGDHKDPSLGAGEAASKESEPKQSTEKPEETLKREQSHAEISPPAESGQAVEECKEEGEEKQEKEPSKSAESPTSPVTSETGSTFKKFF +TQGWAGWRKKTSFRKPKEDEVEASEKKKEQEPEKVDTEEDGKAEVASEKLTASEQAHPQEPAESAHEPRLSAEYEKVELPSEEQVSGSQGPSEEKPAPLA +TEVFDEKIEVHQEEVVAEVHVSTVEERTEEQKTEVEETAGSVPAEELVEMDAEPQEAEPAKELVKLKETCVSGEDPTQGADLSPDEKVLSKPPEGVVSEV +EMLSSQERMKVQGSPLKKLFTSTGLKKLSGKKQKGKRGGGDEESGEHTQVPADSPDSQEEQKGESSASSPEEPEEITCLEKGLAEVQQDGEAEEGATSDG +EKKREGVTPWASFKKMVTPKKRVRRPSESDKEDELDKVKSATLSSTESTASEMQEEMKGSVEEPKPEEPKRKVDTSVSWEALICVGSSKKRARRGSSSDE +EGGPKAMGGDHQKADEAGKDKETGTDGILAGSQEHDPGQGSSSPEQAGSPTEGEGVSTWESFKRLVTPRKKSKSKLEEKSEDSIAGSGVEHSTPDTEPGK +EESWVSIKKFIPGRRKKRPDGKQEQAPVEDAGPTGANEDDSDVPAVVPLSEYDAVEREKMEAQQAQKSAEQPEQKAATEVSKELSESQVHMMAAAVADGT +RAATIIEERSPSWISASVTEPLEQVEAEAALLTEEVLEREVIAEEEPPTVTEPLPENREARGDTVVSEAELTPEAVTAAETAGPLGAEEGTEASAAEETT +EMVSAVSQLTDSPDTTEEATPVQEVEGGVPDIEEQERRTQEVLQAVAEKVKEESQLPGTGGPEDVLQPVQRAEAERPEEQAEASGLKKETDVVLKVDAQE +AKTEPFTQGKVVGQTTPESFEKAPQVTESIESSELVTTCQAETLAGVKSQEMVMEQAIPPDSVETPTDSETDGSTPVADFDAPGTTQKDEIVEIHEENEV +ASGTQSGGTEAEAVPAQKERPPAPSSFVFQEETKEQSKMEDTLEHTDKEVSVETVSILSKTEGTQEADQYADEKTKDVPFFEGLEGSIDTGITVSREKVT +EVALKGEGTEEAECKKDDALELQSHAKSPPSPVEREMVVQVEREKTEAEPTHVNEEKLEHETAVTVSEEVSKQLLQTVNVPIIDGAKEVSSLEGSPPPCL +GQEEAVCTKIQVQSSEASFTLTAAAEEEKVLGETANILETGETLEPAGAHLVLEEKSSEKNEDFAAHPGEDAVPTGPDCQAKSTPVIVSATTKKGLSSDL +EGEKTTSLKWKSDEVDEQVACQEVKVSVAIEEDLEPENGILELETKSSKLVQNIIQTAVDQFVRTEETATEMLTSELQTQAHVIKADSQDAGQETEKEGE +EPQASAQDETPITSAKEESESTAVGQAHSDISKDMSEASEKTMTVEVEGSTVNDQQLEEVVLPSEEEGGGAGTKSVPEDDGHALLAERIEKSLVEPKEDE +KGDDVDDPENQNSALADTDASGGLTKESPDTNGPKQKEKEDAQEVELQEGKVHSESDKAITPQAQEELQKQERESAKSELTES* +>line16520 NM_032532 WILDTYPE +MAPEAGATLRAPRRLSWAALLLLAALLPVASSAAASVDHPLKPRHVKLLSTKMGLKVTWDPPKDATSRPVEHYNIAYGKSLKSLKYIKVNAETYSFLIED +VEPGVVYFVLLTAENHSGVSRPVYRAESPPGGEWIEIDGFPIKGPGPFNETVTEKEVPNKPLRVRVRSSDDRLSVAWKAPRLSGAKSPRRSRGFLLGYGE +SGRKMNYVPLTRDERTHEIKKLASESVYVVSLQSMNSQGRSQPVYRAALTKRKISEEDELDVPDDISVRVMSSQSVLVSWVDPVLEKQKKVVASRQYTVR +YREKGELARWDYKQIANRRVLIENLIPDTVYEFAVRISQGERDGKWSTSVFQRTPESAPTTAPENLNVWPVNGKPTVVAASWDALPETEGKVKEYILSYA +PALKPFGAKSLTYPGDTTSALVDGLQPGERYLFKIRATNRRGLGPHSKAFIVAMPTTSKADVEQNTEDNGKPEKPEPSSPSPRAPASSQHPSVPASPQGR +NAKDLLLDLKNKILANGGAPRKPQLRAKKAEELDLQSTEITGEEELGSREDSPMSPSDTQDQKRTLRPPSRHGHSVVAPGRTAVRARMPALPRREGVDKP +GFSLATQPRPGAPPSASASPAHHASTQGTSHRPSLPASLNDNDLVDSDEDERAVGSLHPKGAFAQPRPALSPSRQSPSSVLRDRSSVHPGAKPASPARRT +PHSGAAEEDSSASAPPSRLSPPHGGSSRLLPTQPHLSSPLSKGGKDGEDAPATNSNAPSRSTMSSSVSSHLSSRTQVSEGAEASDGESHGDGDREDGGRQ +AEATAQTLRARPASGHFHLLRHKPFAANGRSPSRFSIGRGPRLQPSSSPQSTVPSRAHPRVPSHSDSHPKLSSGIHGDEEDEKPLPATVVNDHVPSSSRQ +PISRGWEDLRRSPQRGASLHRKEPIPENPKSTGADTHPQGKYSSLASKAQDVQQSTDADTEGHSPKAQPGSTDRHASPARPPAARSQQHPSVPRRMTPGR +APQQQPPPPVATSQHHPGPQSRDAGRSPSQPRLSLTQAGRPRPTSQGRSHSSSDPYTASSRGMLPTALQNQDEDAQGSYDDDSTEVEAQDVRAPAHAARA +KEAAASLPKHQQVESPTGAGAGGDHRSQRGHAASPARPSRPGGPQSRARVPSRAAPGKSEPPSKRPLSSKSQQSVSAEDDEEEDAGFFKGGKEDLLSSSV +PKWPSSSTPRGGKDADGSLAKEEREPAIALAPRGGSLAPVKRPLPPPPGSSPRASHVPSRLPPRSAATVSPVAGTHPWPQYTTRAPPGHFSTTPMLSLRQ +RMMHARFRNPLSRQPARPSYRQGYNGRPNVEGKVLPGSNGKPNGQRIINGPQGTKWVVDLDRGLVLNAEGRYLQDSHGNPLRIKLGGDGRTIVDLEGTPV +VSPDGLPLFGQGRHGTPLANAQDKPILSLGGKPLVGLEVIKKTTHPPTTTMQPTTTTTPLPTTTTPRPTTATTRRTTTTRRTTTRRPTTTVRTTTRTTTT +TTPTPTTPIPTCPPGTLERHDDDGNLIMSSNGIPECYAEEDEFSGLETDTAVPTEEAYVIYDEDYEFETSRPPTTTEPSTTATTPRVIPEEGAISSFPEE +EFDLAGRKRFVAPYVTYLNKDPSAPCSLTDALDHFQVDSLDEIIPNDLKKSDLPPQHAPRNITVVAVEGCHSFVIVDWDKATPGDVVTGYLVYSASYEDF +IRNKWSTQASSVTHLPIENLKPNTRYYFKVQAQNPHGYGPISPSVSFVTESDNPLLVVRPPGGEPIWIPFAFKHDPSYTDCHGRQYVKRTWYRKFVGVVL +CNSLRYKIYLSDNLKDTFYSIGDSWGRGEDHCQFVDSHLDGRTGPQSYVEALPTIQGYYRQYRQEPVRFGNIGFGTPYYYVGWYECGVSIPGKW* +>line16520 NM_032532 c.3535_3537del p.D1180del protein-altering (position 1180 changed from D to ) +MAPEAGATLRAPRRLSWAALLLLAALLPVASSAAASVDHPLKPRHVKLLSTKMGLKVTWDPPKDATSRPVEHYNIAYGKSLKSLKYIKVNAETYSFLIED +VEPGVVYFVLLTAENHSGVSRPVYRAESPPGGEWIEIDGFPIKGPGPFNETVTEKEVPNKPLRVRVRSSDDRLSVAWKAPRLSGAKSPRRSRGFLLGYGE +SGRKMNYVPLTRDERTHEIKKLASESVYVVSLQSMNSQGRSQPVYRAALTKRKISEEDELDVPDDISVRVMSSQSVLVSWVDPVLEKQKKVVASRQYTVR +YREKGELARWDYKQIANRRVLIENLIPDTVYEFAVRISQGERDGKWSTSVFQRTPESAPTTAPENLNVWPVNGKPTVVAASWDALPETEGKVKEYILSYA +PALKPFGAKSLTYPGDTTSALVDGLQPGERYLFKIRATNRRGLGPHSKAFIVAMPTTSKADVEQNTEDNGKPEKPEPSSPSPRAPASSQHPSVPASPQGR +NAKDLLLDLKNKILANGGAPRKPQLRAKKAEELDLQSTEITGEEELGSREDSPMSPSDTQDQKRTLRPPSRHGHSVVAPGRTAVRARMPALPRREGVDKP +GFSLATQPRPGAPPSASASPAHHASTQGTSHRPSLPASLNDNDLVDSDEDERAVGSLHPKGAFAQPRPALSPSRQSPSSVLRDRSSVHPGAKPASPARRT +PHSGAAEEDSSASAPPSRLSPPHGGSSRLLPTQPHLSSPLSKGGKDGEDAPATNSNAPSRSTMSSSVSSHLSSRTQVSEGAEASDGESHGDGDREDGGRQ +AEATAQTLRARPASGHFHLLRHKPFAANGRSPSRFSIGRGPRLQPSSSPQSTVPSRAHPRVPSHSDSHPKLSSGIHGDEEDEKPLPATVVNDHVPSSSRQ +PISRGWEDLRRSPQRGASLHRKEPIPENPKSTGADTHPQGKYSSLASKAQDVQQSTDADTEGHSPKAQPGSTDRHASPARPPAARSQQHPSVPRRMTPGR +APQQQPPPPVATSQHHPGPQSRDAGRSPSQPRLSLTQAGRPRPTSQGRSHSSSDPYTASSRGMLPTALQNQDEDAQGSYDDDSTEVEAQDVRAPAHAARA +KEAAASLPKHQQVESPTGAGAGGDHRSQRGHAASPARPSRPGGPQSRARVPSRAAPGKSEPPSKRPLSSKSQQSVSAEDEEEDAGFFKGGKEDLLSSSVP +KWPSSSTPRGGKDADGSLAKEEREPAIALAPRGGSLAPVKRPLPPPPGSSPRASHVPSRLPPRSAATVSPVAGTHPWPQYTTRAPPGHFSTTPMLSLRQR +MMHARFRNPLSRQPARPSYRQGYNGRPNVEGKVLPGSNGKPNGQRIINGPQGTKWVVDLDRGLVLNAEGRYLQDSHGNPLRIKLGGDGRTIVDLEGTPVV +SPDGLPLFGQGRHGTPLANAQDKPILSLGGKPLVGLEVIKKTTHPPTTTMQPTTTTTPLPTTTTPRPTTATTRRTTTTRRTTTRRPTTTVRTTTRTTTTT +TPTPTTPIPTCPPGTLERHDDDGNLIMSSNGIPECYAEEDEFSGLETDTAVPTEEAYVIYDEDYEFETSRPPTTTEPSTTATTPRVIPEEGAISSFPEEE +FDLAGRKRFVAPYVTYLNKDPSAPCSLTDALDHFQVDSLDEIIPNDLKKSDLPPQHAPRNITVVAVEGCHSFVIVDWDKATPGDVVTGYLVYSASYEDFI +RNKWSTQASSVTHLPIENLKPNTRYYFKVQAQNPHGYGPISPSVSFVTESDNPLLVVRPPGGEPIWIPFAFKHDPSYTDCHGRQYVKRTWYRKFVGVVLC +NSLRYKIYLSDNLKDTFYSIGDSWGRGEDHCQFVDSHLDGRTGPQSYVEALPTIQGYYRQYRQEPVRFGNIGFGTPYYYVGWYECGVSIPGKW* +>line16579 NM_001301072 WILDTYPE +MREAAAALVPPPAFAVTPAAAMEEPPPPPPPPPPPPEPETESEPECCLAARQEGTLGDSACKSPESDLEDFSDETNTENLYGTSPPSTPRQMKRMSTKHQ +RNNVGRPASRSNLKEKMNAPNQPPHKDTGKTVENVEEYSYKQEKKIRAALRTTERDRKKNVQCSFMLDSVGGSLPKKSIPDVDLNKPYLSLGCSNAKLPV +SVPMPIARPARQTSRTDCPADRLKFFETLRLLLKLTSVSKKKDREQRGQENTSGFWLNRSNELIWLELQAWHAGRTINDQDFFLYTARQAIPDIINEILT +FKVDYGSFAFVRDRAGFNGTSVEGQCKATPGTKIVGYSTHHEHLQRQRVSFEQVKRIMELLEYIEALYPSLQALQKDYEKYAAKDFQDRVQALCLWLNIT +KDLNQKLRIMGTVLGIKNLSDIGWPVFEIPSPRPSKGNEPEYEGDDTEGELKELESSTDESEEEQISDPRVPEIRQPIDNSFDIQSRDCISKKLERLESE +DDSLGWGAPDWSTEAGFSRHCLTSIYRPFVDKALKQMGLRKLILRLHKLMDGSLQRARIALVKNDRPVEFSEFPDPMWGSDYVQLSRTPPSSEEKCSAVS +WEELKAMDLPSFEPAFLVLCRVLLNVIHECLKLRLEQRPAGEPSLLSIKQLVRECKEVLKGGLLMKQYYQFMLQEVLEDLEKPDCNIDAFEEDLHKMLMV +YFDYMRSWIQMLQQLPQASHSLKNLLEEEWNFTKEITHYIRGGEAQAGKLFCDIAGMLLKSTGSFLEFGLQESCAEFWTSADDSSASDEIRRSVIEISRA +LKELFHEARERASKALGFAKMLRKDLEIAAEFRLSAPVRDLLDVLKSKQYVKVQIPGLENLQMFVPDTLAEEKSIILQLLNAAAGKDCSKDSDDVLIDAY +LLLTKHGDRARDSEDSWGTWEAQPVKVVPQVETVDTLRSMQVDNLLLVVMQSAHLTIQRKAFQQSIEGLMTLCQEQTSSQPVIAKALQQLKNDALELCNR +ISNAIDRVDHMFTSEFDAEVDESESVTLQQYYREAMIQGYNFGFEYHKEVVRLMSGEFRQKIGDKYISFARKWMNYVLTKCESGRGTRPRWATQGFDFLQ +AIEPAFISALPEDDFLSLQALMNECIGHVIGKPHSPVTAIHRNSPRPMKVPRCHSDPPNPHLIIPTPEGFSTRSMPSDARSHGSPAAAAAAAAAAVAASR +PSPSGGDSVLPKSISSAHDTRGSSVPENDRLASIAAELQFRSLSRHSSPTEERDEPAYPRGDSSGSTRRSWELRTLISQSKDTASKLGPIEAIQKSVRLF +EEKRYREMRRKNIIGQVCDTPKSYDNVMHVGLRKVTFKWQRGNKIGEGQYGKVYTCISVDTGELMAMKEIRFQPNDHKTIKETADELKIFEGIKHPNLVR +YFGVELHREEMYIFMEYCDEGTLEEVSRLGLQEHVIRLYSKQITIAINVLHEHGIVHRDIKGANIFLTSSGLIKLGDFGCSVKLKNNAQTMPGEVNSTLG +TAAYMAPEVITRAKGEGHGRAADIWSLGCVVIEMVTGKRPWHEYEHNFQIMYKVGMGHKPPIPERLSPEGKDFLSHCLESDPKMRWTASQLLDHSFVKVC +TDEE* +>line16579 NM_001301072 c.3554_3556del p.A1195del protein-altering (position 1195 changed from A to ) +MREAAAALVPPPAFAVTPAAAMEEPPPPPPPPPPPPEPETESEPECCLAARQEGTLGDSACKSPESDLEDFSDETNTENLYGTSPPSTPRQMKRMSTKHQ +RNNVGRPASRSNLKEKMNAPNQPPHKDTGKTVENVEEYSYKQEKKIRAALRTTERDRKKNVQCSFMLDSVGGSLPKKSIPDVDLNKPYLSLGCSNAKLPV +SVPMPIARPARQTSRTDCPADRLKFFETLRLLLKLTSVSKKKDREQRGQENTSGFWLNRSNELIWLELQAWHAGRTINDQDFFLYTARQAIPDIINEILT +FKVDYGSFAFVRDRAGFNGTSVEGQCKATPGTKIVGYSTHHEHLQRQRVSFEQVKRIMELLEYIEALYPSLQALQKDYEKYAAKDFQDRVQALCLWLNIT +KDLNQKLRIMGTVLGIKNLSDIGWPVFEIPSPRPSKGNEPEYEGDDTEGELKELESSTDESEEEQISDPRVPEIRQPIDNSFDIQSRDCISKKLERLESE +DDSLGWGAPDWSTEAGFSRHCLTSIYRPFVDKALKQMGLRKLILRLHKLMDGSLQRARIALVKNDRPVEFSEFPDPMWGSDYVQLSRTPPSSEEKCSAVS +WEELKAMDLPSFEPAFLVLCRVLLNVIHECLKLRLEQRPAGEPSLLSIKQLVRECKEVLKGGLLMKQYYQFMLQEVLEDLEKPDCNIDAFEEDLHKMLMV +YFDYMRSWIQMLQQLPQASHSLKNLLEEEWNFTKEITHYIRGGEAQAGKLFCDIAGMLLKSTGSFLEFGLQESCAEFWTSADDSSASDEIRRSVIEISRA +LKELFHEARERASKALGFAKMLRKDLEIAAEFRLSAPVRDLLDVLKSKQYVKVQIPGLENLQMFVPDTLAEEKSIILQLLNAAAGKDCSKDSDDVLIDAY +LLLTKHGDRARDSEDSWGTWEAQPVKVVPQVETVDTLRSMQVDNLLLVVMQSAHLTIQRKAFQQSIEGLMTLCQEQTSSQPVIAKALQQLKNDALELCNR +ISNAIDRVDHMFTSEFDAEVDESESVTLQQYYREAMIQGYNFGFEYHKEVVRLMSGEFRQKIGDKYISFARKWMNYVLTKCESGRGTRPRWATQGFDFLQ +AIEPAFISALPEDDFLSLQALMNECIGHVIGKPHSPVTAIHRNSPRPMKVPRCHSDPPNPHLIIPTPEGFSTRSMPSDARSHGSPAAAAAAAAAVAASRP +SPSGGDSVLPKSISSAHDTRGSSVPENDRLASIAAELQFRSLSRHSSPTEERDEPAYPRGDSSGSTRRSWELRTLISQSKDTASKLGPIEAIQKSVRLFE +EKRYREMRRKNIIGQVCDTPKSYDNVMHVGLRKVTFKWQRGNKIGEGQYGKVYTCISVDTGELMAMKEIRFQPNDHKTIKETADELKIFEGIKHPNLVRY +FGVELHREEMYIFMEYCDEGTLEEVSRLGLQEHVIRLYSKQITIAINVLHEHGIVHRDIKGANIFLTSSGLIKLGDFGCSVKLKNNAQTMPGEVNSTLGT +AAYMAPEVITRAKGEGHGRAADIWSLGCVVIEMVTGKRPWHEYEHNFQIMYKVGMGHKPPIPERLSPEGKDFLSHCLESDPKMRWTASQLLDHSFVKVCT +DEE* +>line16658 NM_003194 WILDTYPE +MDQNNSLPPYAQGLASPQGAMTPGIPIFSPMMPYGTGLTPQPIQNTNSLSILEEQQRQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQAVAAA +AVQQSTSQQATQGTSGQAPQLFHSQTLTTAPLPGTTPLYPSPMTPMTPITPATPASESSGIVPQLQNIVSTVNLGCKLDLKTIALRARNAEYNPKRFAAV +IMRIREPRTTALIFSSGKMVCTGAKSEEQSRLAARKYARVVQKLGFPAKFLDFKIQNMVGSCDVKFPIRLEGLVLTHQQFSSYEPELFPGLIYRMIKPRI +VLLIFVSGKVVLTGAKVRAEIYEAFENIYPILKGFRKTT* +>line16658 NM_003194 c.189_190insCAG p.Q95_A96insQ protein-altering (position 95-96 has insertion Q) +MDQNNSLPPYAQGLASPQGAMTPGIPIFSPMMPYGTGLTPQPIQNTNSLSILEEQQRQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQAVAA +AAVQQSTSQQATQGTSGQAPQLFHSQTLTTAPLPGTTPLYPSPMTPMTPITPATPASESSGIVPQLQNIVSTVNLGCKLDLKTIALRARNAEYNPKRFAA +VIMRIREPRTTALIFSSGKMVCTGAKSEEQSRLAARKYARVVQKLGFPAKFLDFKIQNMVGSCDVKFPIRLEGLVLTHQQFSSYEPELFPGLIYRMIKPR +IVLLIFVSGKVVLTGAKVRAEIYEAFENIYPILKGFRKTT* +>line16735 NM_001097620 WILDTYPE +MSNVSGILETAGVPLVSANWPQPSPPPAVPAGPQMDHMGNSSQGAPWLFLTSALARGVSGIFVWTALVLTCHQIYLHLRSYTVPQEQRYIIRLLLIVPIY +AFDSWLSLLLLGDHQYYVYFDSVRDCYEAFVIYSFLSLCFQYLGGEGAIMAEIRGKPIKSSCLYGTCCLRGMTYSIGFLRFCKQATLQFCLVKPVMAVTT +IILQAFGKYHDGDFNVRSGYLYVTLIYNASVSLALYALFLFYFTTRELLRPFQPVLKFLTIKAVIFLSFWQGLLLAILERCGVIPEVETSGGNKLGAGTL +AAGYQNFIICVEMLFASVALRYAFPCQVYAEKKENSPAPPAPMQSISSGIRETVSPQDIVQDAIHNFSPAYQHYTQQATHEAPRPGTHPSGGSGGSRKSR +SLEKRMLIPSEDL* +>line16735 NM_001097620 c.1176_1177insGGC p.G392_S393insG protein-altering (position 392-393 has insertion G) +MSNVSGILETAGVPLVSANWPQPSPPPAVPAGPQMDHMGNSSQGAPWLFLTSALARGVSGIFVWTALVLTCHQIYLHLRSYTVPQEQRYIIRLLLIVPIY +AFDSWLSLLLLGDHQYYVYFDSVRDCYEAFVIYSFLSLCFQYLGGEGAIMAEIRGKPIKSSCLYGTCCLRGMTYSIGFLRFCKQATLQFCLVKPVMAVTT +IILQAFGKYHDGDFNVRSGYLYVTLIYNASVSLALYALFLFYFTTRELLRPFQPVLKFLTIKAVIFLSFWQGLLLAILERCGVIPEVETSGGNKLGAGTL +AAGYQNFIICVEMLFASVALRYAFPCQVYAEKKENSPAPPAPMQSISSGIRETVSPQDIVQDAIHNFSPAYQHYTQQATHEAPRPGTHPSGGGSGGSRKS +RSLEKRMLIPSEDL* +>line17129 NM_198956 WILDTYPE +MLAATCNKIGSPSPSPSSLSDSSSSFGKGFHPWKRSSSSSSASCNVVGSSLSSFGVSGASRNGGSSSAAAAAAAAAAAAAALVSDSFSCGGSPGSSAFSL +TSSSAAAAAAAAAAAASSSPFANDYSVFQAPGVSGGSGGGGGGGGGGSSAHSQDGSHQPVFISKVHTSVDGLQGIYPRVGMAHPYESWFKPSHPGLGAAG +EVGSAGASSWWDVGAGWIDVQNPNSAAALPGSLHPAAGGLQTSLHSPLGGYNSDYSGLSHSAFSSGASSHLLSPAGQHLMDGFKPVLPGSYPDSAPSPLA +GAGGSMLSAGPSAPLGGSPRSSARRYSGRATCDCPNCQEAERLGPAGASLRRKGLHSCHIPGCGKVYGKTSHLKAHLRWHTGERPFVCNWLFCGKRFTRS +DELQRHLRTHTGEKRFACPVCNKRFMRSDHLSKHVKTHSGGGGGGGSAGSGSGGKKGSDTDSEHSAAGSPPCHSPELLQPPEPGHRNGLE* +>line17129 NM_198956 c.1336_1338del p.G446del protein-altering (position 446 changed from G to ) +MLAATCNKIGSPSPSPSSLSDSSSSFGKGFHPWKRSSSSSSASCNVVGSSLSSFGVSGASRNGGSSSAAAAAAAAAAAAAALVSDSFSCGGSPGSSAFSL +TSSSAAAAAAAAAAAASSSPFANDYSVFQAPGVSGGSGGGGGGGGGGSSAHSQDGSHQPVFISKVHTSVDGLQGIYPRVGMAHPYESWFKPSHPGLGAAG +EVGSAGASSWWDVGAGWIDVQNPNSAAALPGSLHPAAGGLQTSLHSPLGGYNSDYSGLSHSAFSSGASSHLLSPAGQHLMDGFKPVLPGSYPDSAPSPLA +GAGGSMLSAGPSAPLGGSPRSSARRYSGRATCDCPNCQEAERLGPAGASLRRKGLHSCHIPGCGKVYGKTSHLKAHLRWHTGERPFVCNWLFCGKRFTRS +DELQRHLRTHTGEKRFACPVCNKRFMRSDHLSKHVKTHSGGGGGGSAGSGSGGKKGSDTDSEHSAAGSPPCHSPELLQPPEPGHRNGLE* +>line17211 NM_018685 WILDTYPE +MDPFTEKLLERTRARRENLQRKMAERPTAAPRSMTHAKRARQPLSEASNQQPLSGGEEKSCTKPSPSKKRCSDNTEVEVSNLENKQPVESTSAKSCSPSP +VSPQVQPQAADTISDSVAVPASLLGMRRGLNSRLEATAASSVKTRMQKLAEQRRRWDNDDMTDDIPESSLFSPMPSEEKAASPPRPLLSNASATPVGRRG +RLANLAATICSWEDDVNHSFAKQNSVQEQPGTACLSKFSSASGASARINSSSVKQEATFCSQRDGDASLNKALSSSADDASLVNASISSSVKATSPVKST +TSITDAKSCEGQNPELLPKTPISPLKTGVSKPIVKSTLSQTVPSKGELSREICLQSQSKDKSTTPGGTGIKPFLERFGERCQEHSKESPARSTPHRTPII +TPNTKAIQERLFKQDTSSSTTHLAQQLKQERQKELACLRGRFDKGNIWSAEKGGNSKSKQLETKQETHCQSTPLKKHQGVSKTQSLPVTEKVTENQIPAK +NSSTEPKGFTECEMTKSSPLKITLFLEEDKSLKVTSDPKVEQKIEVIREIEMSVDDDDINSSKVINDLFSDVLEEGELDMEKSQEEMDQALAESSEEQED +ALNISSMSLLAPLAQTVGVVSPESLVSTPRLELKDTSRSDESPKPGKFQRTRVPRAESGDSLGSEDRDLLYSIDAYRSQRFKETERPSIKQVIVRKEDVT +SKLDEKNNAFPCQVNIKQKMQELNNEINMQQTVIYQASQALNCCVDEEHGKGSLEEAEAERLLLIATGKRTLLIDELNKLKNEGPQRKNKASPQSEFMPS +KGSVTLSEIRLPLKADFVCSTVQKPDAANYYYLIILKAGAENMVATPLASTSNSLNGDALTFTTTFTLQDVSNDFEINIEVYSLVQKKDPSGLDKKKKTS +KSKAITPKRLLTSITTKSNIHSSVMASPGGLSAVRTSNFALVGSYTLSLSSVGNTKFVLDKVPFLSSLEGHIYLKIKCQVNSSVEERGFLTIFEDVSGFG +AWHRRWCVLSGNCISYWTYPDDEKRKNPIGRINLANCTSRQIEPANREFCARRNTFELITVRPQREDDRETLVSQCRDTLCVTKNWLSADTKEERDLWMQ +KLNQVLVDIRLWQPDACYKPIGKP* +>line17211 NM_018685 c.880_881insCTT p.S295_P296insS protein-altering (position 295-296 has insertion S) +MDPFTEKLLERTRARRENLQRKMAERPTAAPRSMTHAKRARQPLSEASNQQPLSGGEEKSCTKPSPSKKRCSDNTEVEVSNLENKQPVESTSAKSCSPSP +VSPQVQPQAADTISDSVAVPASLLGMRRGLNSRLEATAASSVKTRMQKLAEQRRRWDNDDMTDDIPESSLFSPMPSEEKAASPPRPLLSNASATPVGRRG +RLANLAATICSWEDDVNHSFAKQNSVQEQPGTACLSKFSSASGASARINSSSVKQEATFCSQRDGDASLNKALSSSADDASLVNASISSSVKATSSPVKS +TTSITDAKSCEGQNPELLPKTPISPLKTGVSKPIVKSTLSQTVPSKGELSREICLQSQSKDKSTTPGGTGIKPFLERFGERCQEHSKESPARSTPHRTPI +ITPNTKAIQERLFKQDTSSSTTHLAQQLKQERQKELACLRGRFDKGNIWSAEKGGNSKSKQLETKQETHCQSTPLKKHQGVSKTQSLPVTEKVTENQIPA +KNSSTEPKGFTECEMTKSSPLKITLFLEEDKSLKVTSDPKVEQKIEVIREIEMSVDDDDINSSKVINDLFSDVLEEGELDMEKSQEEMDQALAESSEEQE +DALNISSMSLLAPLAQTVGVVSPESLVSTPRLELKDTSRSDESPKPGKFQRTRVPRAESGDSLGSEDRDLLYSIDAYRSQRFKETERPSIKQVIVRKEDV +TSKLDEKNNAFPCQVNIKQKMQELNNEINMQQTVIYQASQALNCCVDEEHGKGSLEEAEAERLLLIATGKRTLLIDELNKLKNEGPQRKNKASPQSEFMP +SKGSVTLSEIRLPLKADFVCSTVQKPDAANYYYLIILKAGAENMVATPLASTSNSLNGDALTFTTTFTLQDVSNDFEINIEVYSLVQKKDPSGLDKKKKT +SKSKAITPKRLLTSITTKSNIHSSVMASPGGLSAVRTSNFALVGSYTLSLSSVGNTKFVLDKVPFLSSLEGHIYLKIKCQVNSSVEERGFLTIFEDVSGF +GAWHRRWCVLSGNCISYWTYPDDEKRKNPIGRINLANCTSRQIEPANREFCARRNTFELITVRPQREDDRETLVSQCRDTLCVTKNWLSADTKEERDLWM +QKLNQVLVDIRLWQPDACYKPIGKP* +>line17226 NM_016616 WILDTYPE +MASKKREVQLQTVINNQSLWDEMLQNKGLTVIDVYQAWCGPCRAMQPLFRKLKNELNEDEILHFAVAEADNIVTLQPFRDKCEPVFLFSVNGKIIEKIQG +ANAPLVNKKVINLIDEERKIAAGEMARPQYPEIPLVDSDSEVSEESPCESVQELYSIAIIKPDAVISKKVLEIKRKITKAGFIIEAEHKTVLTEEQVVNF +YSRIADQCDFEEFVSFMTSGLSYILVVSQGSKHNPPSEETEPQTDTEPNERSEDQPEVEAQVTPGMMKNKQDSLQEYLERQHLAQLCDIEEDAANVAKFM +DAFFPDFKKMKSMKLEKTLALLRPNLFHERKDDVLRIIKDEDFKILEQRQVVLSEKEAQALCKEYENEDYFNKLIENMTSGPSLALVLLRDNGLQYWKQL +LGPRTVEEAIEYFPESLCAQFAMDSLPVNQLYGSDSLETAEREIQHFFPLQSTLGLIKPHATSEQREQILKIVKEAGFDLTQVKKMFLTPEQIEKIYPKV +TGKDFYKDLLEMLSVGPSMVMILTKWNAVAEWRRLMGPTDPEEAKLLSPDSIRAQFGISKLKNIVHGASNAYEAKEVVNRLFEDPEEN* +>line17226 NM_016616 c.1478_1479CT p.I493T protein-altering (position 493 changed from I to T) +MASKKREVQLQTVINNQSLWDEMLQNKGLTVIDVYQAWCGPCRAMQPLFRKLKNELNEDEILHFAVAEADNIVTLQPFRDKCEPVFLFSVNGKIIEKIQG +ANAPLVNKKVINLIDEERKIAAGEMARPQYPEIPLVDSDSEVSEESPCESVQELYSIAIIKPDAVISKKVLEIKRKITKAGFIIEAEHKTVLTEEQVVNF +YSRIADQCDFEEFVSFMTSGLSYILVVSQGSKHNPPSEETEPQTDTEPNERSEDQPEVEAQVTPGMMKNKQDSLQEYLERQHLAQLCDIEEDAANVAKFM +DAFFPDFKKMKSMKLEKTLALLRPNLFHERKDDVLRIIKDEDFKILEQRQVVLSEKEAQALCKEYENEDYFNKLIENMTSGPSLALVLLRDNGLQYWKQL +LGPRTVEEAIEYFPESLCAQFAMDSLPVNQLYGSDSLETAEREIQHFFPLQSTLGLIKPHATSEQREQILKIVKEAGFDLTQVKKMFLTPEQTEKIYPKV +TGKDFYKDLLEMLSVGPSMVMILTKWNAVAEWRRLMGPTDPEEAKLLSPDSIRAQFGISKLKNIVHGASNAYEAKEVVNRLFEDPEEN* +>line17795 NM_178125 WILDTYPE +MAWQVSLLELEDWLQCPICLEVFKEPLMLQCGHSYCKGCLVSLSCHLDAELRCPVCRQAVDGSSSLPNVSLARVIEALRLPGDPEPKVCVHHRNPLSLFC +EKDQELICGLCGLLGSHQHHPVTPVSTVYSRMKEELAALISELKQEQKKVDELIAKLVNNRTRIVNESDVFSWVIRREFQELHHLVDEEKARCLEGIGGH +TRGLVASLDMQLEQAQGTRERLAQAECVLEQFGNEDHHKFIRKFHSMASRAEMPQARPLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPAPEPLKLDP +ATAHPLLELSKGNTVVQCGLLAQRRASQPERFDYSTCVLASRGFSCGRHYWEVVVGSKSDWRLGVIKGTASRKGKLNRSPEHGVWLIGLKEGRVYEAFAC +PRVPLPVAGHPHRIGLYLHYEQGELTFFDADRPDDLRPLYTFQADFQGKLYPILDTCWHERGSNSLPMVLPPPSGPGPLSPEQPTKL* +>line17795 NM_178125 c.23_24CA p.L8P protein-altering (position 8 changed from L to P) +MAWQVSLPELEDWLQCPICLEVFKEPLMLQCGHSYCKGCLVSLSCHLDAELRCPVCRQAVDGSSSLPNVSLARVIEALRLPGDPEPKVCVHHRNPLSLFC +EKDQELICGLCGLLGSHQHHPVTPVSTVYSRMKEELAALISELKQEQKKVDELIAKLVNNRTRIVNESDVFSWVIRREFQELHHLVDEEKARCLEGIGGH +TRGLVASLDMQLEQAQGTRERLAQAECVLEQFGNEDHHKFIRKFHSMASRAEMPQARPLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPAPEPLKLDP +ATAHPLLELSKGNTVVQCGLLAQRRASQPERFDYSTCVLASRGFSCGRHYWEVVVGSKSDWRLGVIKGTASRKGKLNRSPEHGVWLIGLKEGRVYEAFAC +PRVPLPVAGHPHRIGLYLHYEQGELTFFDADRPDDLRPLYTFQADFQGKLYPILDTCWHERGSNSLPMVLPPPSGPGPLSPEQPTKL* +>line17833 NM_001278916 WILDTYPE +MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGGKPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAA +AAYKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQP +GVPLGYPIKAPKLPGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAA +KYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGI +PGVAGVPGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAGAAAGLGA +GIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAVPGALAAAKAAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLG +GLGVGGLGVPGVGGLGGIPPAAAAKAAKYGVAARPGFGLSPIFPGGACLGKACGRKRK* +>line17833 NM_001278916 c.1724_1726del p.A582del protein-altering (position 582 changed from A to ) +MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGGKPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAA +AAYKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQP +GVPLGYPIKAPKLPGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAA +KYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGI +PGVAGVPGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAGAAAGLGA +GIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAVPGALAAAKAAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAKAAAKAAQFGLVGAAGLGG +LGVGGLGVPGVGGLGGIPPAAAAKAAKYGVAARPGFGLSPIFPGGACLGKACGRKRK* +>line17859 NM_003388 WILDTYPE +MQKPSGLKPPGRGGKHSSPMGRTSTGSASSSAAVAASSKEGSPLHKQSSGPSSSPAAAAAPEKPGPKAAEVGDDFLGDFVVGERVWVNGVKPGVVQYLGE +TQFAPGQWAGVVLDDPVGKNDGAVGGVRYFECPALQGIFTRPSKLTRQPTAEGSGSDAHSVESLTAQNLSLHSGTATPPLTSRVIPLRESVLNSSVKTGN +ESGSNLSDSGSVKRGEKDLRLGDRVLVGGTKTGVVRYVGETDFAKGEWCGVELDEPLGKNDGAVAGTRYFQCPPKFGLFAPIHKVIRIGFPSTSPAKAKK +TKRMAMGVSALTHSPSSSSISSVSSVASSVGGRPSRSGLLTETSSRYARKISGTTALQEALKEKQQHIEQLLAERDLERAEVAKATSHICEVEKEIALLK +AQHEQYVAEAEEKLQRARLLVESVRKEKVDLSNQLEEERRKVEDLQFRVEEESITKGDLETQTQLEHARIGELEQSLLLEKAQAERLLRELADNRLTTVA +EKSRVLQLEEELTLRRGEIEELQQCLLHSGPPPPDHPDAAEILRLRERLLSASKEHQRESGVLRDKYEKALKAYQAEVDKLRAANEKYAQEVAGLKDKVQ +QATSENMGLMDNWKSKLDSLASDHQKSLEDLKATLNSGPGAQQKEIGELKAVMEGIKMEHQLELGNLQAKHDLETAMHVKEKEALREKLQEAQEELAGLQ +RHWRAQLEVQASQHRLELQEAQDQRRDAELRVHELEKLDVEYRGQAQAIEFLKEQISLAEKKMLDYERLQRAEAQGKQEVESLREKLLVAENRLQAVEAL +CSSQHTHMIESNDISEETIRTKETVEGLQDKLNKRDKEVTALTSQTEMLRAQVSALESKCKSGEKKVDALLKEKRRLEAELETVSRKTHDASGQLVLISQ +ELLRKERSLNELRVLLLEANRHSPGPERDLSREVHKAEWRIKEQKLKDDIRGLREKLTGLDKEKSLSDQRRYSLIDRSSAPELLRLQHQLMSTEDALRDA +LDQAQQVEKLMEAMRSCPDKAQTIGNSGSANGIHQQDKAQKQEDKH* +>line17859 NM_003388 c.2929_2930AC p.R977T protein-altering (position 977 changed from R to T) +MQKPSGLKPPGRGGKHSSPMGRTSTGSASSSAAVAASSKEGSPLHKQSSGPSSSPAAAAAPEKPGPKAAEVGDDFLGDFVVGERVWVNGVKPGVVQYLGE +TQFAPGQWAGVVLDDPVGKNDGAVGGVRYFECPALQGIFTRPSKLTRQPTAEGSGSDAHSVESLTAQNLSLHSGTATPPLTSRVIPLRESVLNSSVKTGN +ESGSNLSDSGSVKRGEKDLRLGDRVLVGGTKTGVVRYVGETDFAKGEWCGVELDEPLGKNDGAVAGTRYFQCPPKFGLFAPIHKVIRIGFPSTSPAKAKK +TKRMAMGVSALTHSPSSSSISSVSSVASSVGGRPSRSGLLTETSSRYARKISGTTALQEALKEKQQHIEQLLAERDLERAEVAKATSHICEVEKEIALLK +AQHEQYVAEAEEKLQRARLLVESVRKEKVDLSNQLEEERRKVEDLQFRVEEESITKGDLETQTQLEHARIGELEQSLLLEKAQAERLLRELADNRLTTVA +EKSRVLQLEEELTLRRGEIEELQQCLLHSGPPPPDHPDAAEILRLRERLLSASKEHQRESGVLRDKYEKALKAYQAEVDKLRAANEKYAQEVAGLKDKVQ +QATSENMGLMDNWKSKLDSLASDHQKSLEDLKATLNSGPGAQQKEIGELKAVMEGIKMEHQLELGNLQAKHDLETAMHVKEKEALREKLQEAQEELAGLQ +RHWRAQLEVQASQHRLELQEAQDQRRDAELRVHELEKLDVEYRGQAQAIEFLKEQISLAEKKMLDYERLQRAEAQGKQEVESLREKLLVAENRLQAVEAL +CSSQHTHMIESNDISEETIRTKETVEGLQDKLNKRDKEVTALTSQTEMLRAQVSALESKCKSGEKKVDALLKEKRRLEAELETVSRKTHDASGQLVLISQ +ELLRKERSLNELRVLLLEANRHSPGPERDLSREVHKAEWRIKEQKLKDDIRGLREKLTGLDKEKSLSDQRRYSLIDTSSAPELLRLQHQLMSTEDALRDA +LDQAQQVEKLMEAMRSCPDKAQTIGNSGSANGIHQQDKAQKQEDKH* +>line18000 NM_033026 WILDTYPE +MGNEASLEGEGLPEGLAAAAAAGGGASGAGSPSHTAIPAGMEADLSQLSEEERRQIAAVMSRAQGLPKGSVPPAAAESPSMHRKQELDSSHPPKQSGRPP +DPGRPAQPGLSKSRTTDTFRSEQKLPGRSPSTISLKESKSRTDLKEEHKSSMMPGFLSEVNALSAVSSVVNKFNPFDLISDSEASQEETTKKQKVVQKEQ +GKPEGIIKPPLQQQPPKPIPKQQGPGRDPLQQDGTPKSISSQQPEKIKSQPPGTGKPIQGPTQTPQTDHAKLPLQRDASRPQTKQADIVRGESVKPSLPS +PSKPPIQQPTPGKPPAQQPGHEKSQPGPAKPPAQPSGLTKPLAQQPGTVKPPVQPPGTTKPPAQPLGPAKPPAQQTGSEKPSSEQPGPKALAQPPGVGKT +PAQQPGPAKPPTQQVGTPKPLAQQPGLQSPAKAPGPTKTPVQQPGPGKIPAQQAGPGKTSAQQTGPTKPPSQLPGPAKPPPQQPGPAKPPPQQPGSAKPP +SQQPGSTKPPPQQPGPAKPSPQQPGSTKPPSQQPGSAKPSAQQPSPAKPSAQQSTKPVSQTGSGKPLQPPTVSPSAKQPPSQGLPKTICPLCNTTELLLH +VPEKANFNTCTECQTTVCSLCGFNPNPHLTEVKEWLCLNCQMKRALGGDLAPVPSSPQPKLKTAPVTTTSAVSKSSPQPQQTSPKKDAAPKQDLSKAPEP +KKPPPLVKQPTLHGSPSAKAKQPPEADSLSKPAPPKEPSVPSEQDKAPVADDKPKQPKMVKPTTDLVSSSSATTKPDIPSSKVQSQAEEKTTPPLKTDSA +KPSQSFPPTGEKVSPFDSKAIPRPASDSKIISHPGPSSESKGQKQVDPVQKKEEPKKAQTKMSPKPDAKPMPKGSPTPPGPRPTAGQTVPTPQQSPKPQE +QSRRFSLNLGSITDAPKSQPTTPQETVTGKLFGFGASIFSQASNLISTAGQPGPHSQSGPGAPMKQAPAPSQPPTSQGPPKSTGQAPPAPAKSIPVKKET +KAPAAEKLEPKAEQAPTVKRTETEKKPPPIKDSKSLTAEPQKAVLPTKLEKSPKPESTCPLCKTELNIGSKDPPNFNTCTECKNQVCNLCGFNPTPHLTE +IQEWLCLNCQTQRAISGQLGDIRKMPPAPSGPKASPMPVPTESSSQKTAVPPQVKLVKKQEQEVKTEAEKVILEKVKETLSMEKIPPMVTTDQKQEESKL +EKDKASALQEKKPLPEEKKLIPEEEKIRSEEKKPLLEEKKPTPEDKKLLPEAKTSAPEEQKHDLLKSQVQIAEEKLEGRVAPKTVQEGKQPQTKMEGLPS +GTPQSLPKEDDKTTKTIKEQPQPPCTAKPDQVEPGKEKTEKEDDKSDTSSSQQPKSPQGLSDTGYSSDGISSSLGEIPSLIPTDEKDILKGLKKDSFSQE +SSPSSPSDLAKLESTVLSILEAQASTLADEKSEKKTQPHEVSPEQPKDQEKTQSLSETLEITISEEEIKESQEERKDTFKKDSQQDIPSSKDHKEKSEFV +DDITTRREPYDSVEESSESENSPVPQRKRRTSVGSSSSDEYKQEDSQGSGEEEDFIRKQIIEMSADEDASGSEDDEFIRNQLKEISSSTESQKKEETKGK +GKITAGKHRRLTRKSSTSIDEDAGRRHSWHDEDDEAFDESPELKYRETKSQESEELVVTGGGGLRRFKTIELNSTIADKYSAESSQKKTSLYFDEEPELE +MESLTDSPEDRSRGEGSSSLHASSFTPGTSPTSVSSLDEDSDSSPSHKKGESKQQRKARHRPHGPLLPTIEDSSEEEELREEEELLKEQEKQREIEQQQR +KSSSKKSKKDKDELRAQRRRERPKTPPSNLSPIEDASPTEELRQAAEMEELHRSSCSEYSPSIESDPEGFEISPEKIIEVQKVYKLPTAVSLYSPTDEQS +IMQKEGSQKALKSAEEMYEEMMHKTHKYKAFPAANERDEVFEKEPLYGGMLIEDYIYESLVEDTYNGSVDGSLLTRQEEENGFMQQKGREQKIRLSEQIY +EDPMQKITDLQKEFYELESLHSVVPQEDIVSSSFIIPESHEIVDLGTMVTSTEEERKLLDADAAYEELMKRQQMQLTPGSSPTQAPIGEDMTESTMDFDR +MPDASLTSSVLSGASLTDSTSSATLSIPDVKITQHFSTEEIEDEYVTDYTREIQEIIAHESLILTYSEPSESATSVPPSDTPSLTSSVSSVCTTDSSSPI +TTLDSITTVYTEPVDMITKFEDSEEISSSTYFPGSIIDYPEEISVSLDRTAPPDGRASADHIVISLSDMASSIIESVVPKPEGPVADTVSTDLLISEKDP +VKKAKKETGNGIILEVLEAYRDKKELEAERTKSSLSETVFDHPPSSVIALPMKEQLSTTYFTSGETFGQEKPASQLPSGSPSVSSLPAKPRPFFRSSSLD +ISAQPPPPPPPPPPPPPPPPPPPPPPLPPPTSPKPTILPKKKLTVASPVTTATPLFDAVTTLETTAVLRSNGLPVTRICTTAPPPVPPKPSSIPSGLVFT +HRPEPSKPPIAPKPVIPQLPTTTQKPTDIHPKPTGLSLTSSMTLNLVTSADYKLPSPTSPLSPHSNKSSPRFSKSLTETYVVITLPSEPGTPTDSSASQA +ITSWPLGSPSKDLVSVEPVFSVVPPVTAVEIPISSEQTFYISGALQTFSATPVTAPSSFQAAPTSVTQFLTTEVSKTEVSATRSTAPSVGLSSISITIPP +EPLALDNIHLEKPQYKEDGKLQLVGDVIDLRTVPKVEVKTTDKCIDLSASTMDVKRQITANEVYGKQISAVQPSIINLSVTSSIVTPVSLATETVTFVTC +TASASYTTGTESLVGAEHAMTTPLQLTTSKHAEPPYRIPSDQVFPIAREEAPINLSLGTPAHAVTLAITKPVTVPPVGVTNGWTDSTVSQGITDGEVVDL +STTKSHRTVVTMDESTSSVMTKIIEDEKPVDLTAGRRAVCCDVVYKLPFGRSCTAQQPATTLPEDRFGYRDDHYQYDRSGPYGYRGIGGMKPSMSDTNLA +EAGHFFYKSKNAFDYSEGTDTAVDLTSGRVTTGEVMDYSSKTTGPYPETRQVISGAGISTPQYSTARMTPPPGPQYCVGSVLRSSNGVVYSSVATPTPST +FAITTQPGSIFSTTVRDLSGIHTADAVTSLPAMHHSQPMPRSYFITTGASETDIAVTGIDISASLQTITMESLTAETIDSVPTLTTASEVFPEVVGDESA +LLIVPEEDKQQQQLDLERELLELEKIKQQRFAEELEWERQEIQRFREQEKIMVQKKLEELQSMKQHLLFQQEEERQAQFMMRQETLAQQQLQLEQIQQLQ +QQLHQQLEEQKIRQIYQYNYDPSGTASPQTTTEQAILEGQYAALEGSQFWATEDATTTASAVVAIEIPQSQGWYTVQSDGVTQYIAPPGILSTVSEIPLT +DVVVKEEKQPKKRSSGAKVRGQYDDMGENMTDDPRSFKKIVDSGVQTDDEDATDRSYVSRRRRTKKSVDTSVQTDDEDQDEWDMPTRSRRKARVGKYGDS +MTEADKTKPLSKVSSIAVQTVAEISVQTEPVGTIRTPSIRARVDAKVEIIKHISAPEKTYKGGSLGCQTEADSDTQSPQYLSATSPPKDKKRPTPLEIGY +SSHLRADSTVQLAPSPPKSPKVLYSPISPLSPGKALESAFVPYEKPLPDDISPQKVLHPDMAKVPPASPKTAKMMQRSMSDPKPLSPTADESSRAPFQYT +EGYTTKGSQTMTSSGAQKKVKRTLPNPPPEEISTGTQSTFSTMGTVSRRRICRTNTMARAKILQDIDRELDLVERESAKLRKKQAELDEEEKEIDAKLRY +LEMGINRRKEALLKEREKRERAYLQGVAEDRDYMSDSEVSSTRPTRIESQHGIERPRTAPQTEFSQFIPPQTQTESQLVPPTSPYTQYQYSSPALPTQAP +TSYTQQSHFEQQTLYHQQVSPYQTQPTFQAVATMSFTPQVQPTPTPQPSYQLPSQMMVIQQKPRQTTLYLEPKITSNYEVIRNQPLMIAPVSTDNTFAVS +HLGSKYNSLDLRIGLEERSSMASSPISSISADSFYADIDHHTPRNYVLIDDIGEITKGTAALSTAFSLHEKDLSKTDRLLRTTETRRSQEVTDFLAPLQS +SSRLHSYVKAEEDPMEDPYELKLLKHQIKQEFRRGTESLDHLAGLSHYYHADTSYRHFPKSEKYSISRLTLEKQAAKQLPAAILYQKQSKHKKSLIDPKM +SKFSPIQESRDLEPDYSSYMTSSTSSIGGISSRARLLQDDITFGLRKNITDQQKFMGSSLGTGLGTLGNTIRSALQDEADKPYSSGSRSRPSSRPSSVYG +LDLSIKRDSSSSSLRLKAQEAEALDVSFSHASSSARTKPTSLPISQSRGRIPIVAQNSEEESPLSPVGQPMGMARAAAGPLPPISADTRDQFGSSHSLPE +VQQHMREESRTRGYDRDIAFIMDDFQHAMSDSEAYHLRREETDWFDKPRESRLENGHGLDRKLPERLVHSRPLSQHQEQIIQMNGKTMHYIFPHARIKIT +RDSKDHTVSGNGLGIRIVGGKEIPGHSGEIGAYIAKILPGGSAEQTGKLMEGMQVLEWNGIPLTSKTYEEVQSIISQQSGEAEICVRLDLNMLSDSENSQ +HLELHEPPKAVDKAKSPGVDPKQLAAELQKVSLQQSPLVLSSVVEKGSHVHSGPTSAGSSSVPSPGQPGSPSVSKKKHGSSKPTDGTKVVSHPITGEIQL +QINYDLGNLIIHILQARNLVPRDNNGYSDPFVKVYLLPGRGQVMVVQNASAEYKRRTKHVQKSLNPEWNQTVIYKSISMEQLKKKTLEVTVWDYDRFSSN +DFLGEVLIDLSSTSHLDNTPRWYPLKEQTESIDHGKSHSSQSSQQSPKPSVIKSRSHGIFPDPSKDMQVPTIEKSHSSPGSSKSSSEGHLRSHGPSRSQS +KTSVTQTHLEDAGAAIAAAEAAVQQLRIQPTKPPNHRPAESSVSTGSSGSSFGSGYSVDSEGSSSTAGETNLFPIPRIGKMGQNGQEPVKQPGVGVGLAD +TEAKTQVMGEIKIALKKEMKTDGEQLIVEILQCRNITYKFKSPDHLPDLYVKIYVMNISTQKKVIKKKTRVCRHDREPSFNETFRFSLSPAGHSLQILLF +SNGGKFMKKTLIGEACIWLDKVDLRKRIVNWHKLLVSPTQTH* +>line18000 NM_033026 c.8780_8781insTGA p.D2926_E2927insD protein-altering (position 2926-2927 has insertion D) +MGNEASLEGEGLPEGLAAAAAAGGGASGAGSPSHTAIPAGMEADLSQLSEEERRQIAAVMSRAQGLPKGSVPPAAAESPSMHRKQELDSSHPPKQSGRPP +DPGRPAQPGLSKSRTTDTFRSEQKLPGRSPSTISLKESKSRTDLKEEHKSSMMPGFLSEVNALSAVSSVVNKFNPFDLISDSEASQEETTKKQKVVQKEQ +GKPEGIIKPPLQQQPPKPIPKQQGPGRDPLQQDGTPKSISSQQPEKIKSQPPGTGKPIQGPTQTPQTDHAKLPLQRDASRPQTKQADIVRGESVKPSLPS +PSKPPIQQPTPGKPPAQQPGHEKSQPGPAKPPAQPSGLTKPLAQQPGTVKPPVQPPGTTKPPAQPLGPAKPPAQQTGSEKPSSEQPGPKALAQPPGVGKT +PAQQPGPAKPPTQQVGTPKPLAQQPGLQSPAKAPGPTKTPVQQPGPGKIPAQQAGPGKTSAQQTGPTKPPSQLPGPAKPPPQQPGPAKPPPQQPGSAKPP +SQQPGSTKPPPQQPGPAKPSPQQPGSTKPPSQQPGSAKPSAQQPSPAKPSAQQSTKPVSQTGSGKPLQPPTVSPSAKQPPSQGLPKTICPLCNTTELLLH +VPEKANFNTCTECQTTVCSLCGFNPNPHLTEVKEWLCLNCQMKRALGGDLAPVPSSPQPKLKTAPVTTTSAVSKSSPQPQQTSPKKDAAPKQDLSKAPEP +KKPPPLVKQPTLHGSPSAKAKQPPEADSLSKPAPPKEPSVPSEQDKAPVADDKPKQPKMVKPTTDLVSSSSATTKPDIPSSKVQSQAEEKTTPPLKTDSA +KPSQSFPPTGEKVSPFDSKAIPRPASDSKIISHPGPSSESKGQKQVDPVQKKEEPKKAQTKMSPKPDAKPMPKGSPTPPGPRPTAGQTVPTPQQSPKPQE +QSRRFSLNLGSITDAPKSQPTTPQETVTGKLFGFGASIFSQASNLISTAGQPGPHSQSGPGAPMKQAPAPSQPPTSQGPPKSTGQAPPAPAKSIPVKKET +KAPAAEKLEPKAEQAPTVKRTETEKKPPPIKDSKSLTAEPQKAVLPTKLEKSPKPESTCPLCKTELNIGSKDPPNFNTCTECKNQVCNLCGFNPTPHLTE +IQEWLCLNCQTQRAISGQLGDIRKMPPAPSGPKASPMPVPTESSSQKTAVPPQVKLVKKQEQEVKTEAEKVILEKVKETLSMEKIPPMVTTDQKQEESKL +EKDKASALQEKKPLPEEKKLIPEEEKIRSEEKKPLLEEKKPTPEDKKLLPEAKTSAPEEQKHDLLKSQVQIAEEKLEGRVAPKTVQEGKQPQTKMEGLPS +GTPQSLPKEDDKTTKTIKEQPQPPCTAKPDQVEPGKEKTEKEDDKSDTSSSQQPKSPQGLSDTGYSSDGISSSLGEIPSLIPTDEKDILKGLKKDSFSQE +SSPSSPSDLAKLESTVLSILEAQASTLADEKSEKKTQPHEVSPEQPKDQEKTQSLSETLEITISEEEIKESQEERKDTFKKDSQQDIPSSKDHKEKSEFV +DDITTRREPYDSVEESSESENSPVPQRKRRTSVGSSSSDEYKQEDSQGSGEEEDFIRKQIIEMSADEDASGSEDDEFIRNQLKEISSSTESQKKEETKGK +GKITAGKHRRLTRKSSTSIDEDAGRRHSWHDEDDEAFDESPELKYRETKSQESEELVVTGGGGLRRFKTIELNSTIADKYSAESSQKKTSLYFDEEPELE +MESLTDSPEDRSRGEGSSSLHASSFTPGTSPTSVSSLDEDSDSSPSHKKGESKQQRKARHRPHGPLLPTIEDSSEEEELREEEELLKEQEKQREIEQQQR +KSSSKKSKKDKDELRAQRRRERPKTPPSNLSPIEDASPTEELRQAAEMEELHRSSCSEYSPSIESDPEGFEISPEKIIEVQKVYKLPTAVSLYSPTDEQS +IMQKEGSQKALKSAEEMYEEMMHKTHKYKAFPAANERDEVFEKEPLYGGMLIEDYIYESLVEDTYNGSVDGSLLTRQEEENGFMQQKGREQKIRLSEQIY +EDPMQKITDLQKEFYELESLHSVVPQEDIVSSSFIIPESHEIVDLGTMVTSTEEERKLLDADAAYEELMKRQQMQLTPGSSPTQAPIGEDMTESTMDFDR +MPDASLTSSVLSGASLTDSTSSATLSIPDVKITQHFSTEEIEDEYVTDYTREIQEIIAHESLILTYSEPSESATSVPPSDTPSLTSSVSSVCTTDSSSPI +TTLDSITTVYTEPVDMITKFEDSEEISSSTYFPGSIIDYPEEISVSLDRTAPPDGRASADHIVISLSDMASSIIESVVPKPEGPVADTVSTDLLISEKDP +VKKAKKETGNGIILEVLEAYRDKKELEAERTKSSLSETVFDHPPSSVIALPMKEQLSTTYFTSGETFGQEKPASQLPSGSPSVSSLPAKPRPFFRSSSLD +ISAQPPPPPPPPPPPPPPPPPPPPPPLPPPTSPKPTILPKKKLTVASPVTTATPLFDAVTTLETTAVLRSNGLPVTRICTTAPPPVPPKPSSIPSGLVFT +HRPEPSKPPIAPKPVIPQLPTTTQKPTDIHPKPTGLSLTSSMTLNLVTSADYKLPSPTSPLSPHSNKSSPRFSKSLTETYVVITLPSEPGTPTDSSASQA +ITSWPLGSPSKDLVSVEPVFSVVPPVTAVEIPISSEQTFYISGALQTFSATPVTAPSSFQAAPTSVTQFLTTEVSKTEVSATRSTAPSVGLSSISITIPP +EPLALDNIHLEKPQYKEDGKLQLVGDVIDLRTVPKVEVKTTDKCIDLSASTMDVKRQITANEVYGKQISAVQPSIINLSVTSSIVTPVSLATETVTFVTC +TASASYTTGTESLVGAEHAMTTPLQLTTSKHAEPPYRIPSDQVFPIAREEAPINLSLGTPAHAVTLAITKPVTVPPVGVTNGWTDSTVSQGITDGEVVDL +STTKSHRTVVTMDESTSSVMTKIIEDDEKPVDLTAGRRAVCCDVVYKLPFGRSCTAQQPATTLPEDRFGYRDDHYQYDRSGPYGYRGIGGMKPSMSDTNL +AEAGHFFYKSKNAFDYSEGTDTAVDLTSGRVTTGEVMDYSSKTTGPYPETRQVISGAGISTPQYSTARMTPPPGPQYCVGSVLRSSNGVVYSSVATPTPS +TFAITTQPGSIFSTTVRDLSGIHTADAVTSLPAMHHSQPMPRSYFITTGASETDIAVTGIDISASLQTITMESLTAETIDSVPTLTTASEVFPEVVGDES +ALLIVPEEDKQQQQLDLERELLELEKIKQQRFAEELEWERQEIQRFREQEKIMVQKKLEELQSMKQHLLFQQEEERQAQFMMRQETLAQQQLQLEQIQQL +QQQLHQQLEEQKIRQIYQYNYDPSGTASPQTTTEQAILEGQYAALEGSQFWATEDATTTASAVVAIEIPQSQGWYTVQSDGVTQYIAPPGILSTVSEIPL +TDVVVKEEKQPKKRSSGAKVRGQYDDMGENMTDDPRSFKKIVDSGVQTDDEDATDRSYVSRRRRTKKSVDTSVQTDDEDQDEWDMPTRSRRKARVGKYGD +SMTEADKTKPLSKVSSIAVQTVAEISVQTEPVGTIRTPSIRARVDAKVEIIKHISAPEKTYKGGSLGCQTEADSDTQSPQYLSATSPPKDKKRPTPLEIG +YSSHLRADSTVQLAPSPPKSPKVLYSPISPLSPGKALESAFVPYEKPLPDDISPQKVLHPDMAKVPPASPKTAKMMQRSMSDPKPLSPTADESSRAPFQY +TEGYTTKGSQTMTSSGAQKKVKRTLPNPPPEEISTGTQSTFSTMGTVSRRRICRTNTMARAKILQDIDRELDLVERESAKLRKKQAELDEEEKEIDAKLR +YLEMGINRRKEALLKEREKRERAYLQGVAEDRDYMSDSEVSSTRPTRIESQHGIERPRTAPQTEFSQFIPPQTQTESQLVPPTSPYTQYQYSSPALPTQA +PTSYTQQSHFEQQTLYHQQVSPYQTQPTFQAVATMSFTPQVQPTPTPQPSYQLPSQMMVIQQKPRQTTLYLEPKITSNYEVIRNQPLMIAPVSTDNTFAV +SHLGSKYNSLDLRIGLEERSSMASSPISSISADSFYADIDHHTPRNYVLIDDIGEITKGTAALSTAFSLHEKDLSKTDRLLRTTETRRSQEVTDFLAPLQ +SSSRLHSYVKAEEDPMEDPYELKLLKHQIKQEFRRGTESLDHLAGLSHYYHADTSYRHFPKSEKYSISRLTLEKQAAKQLPAAILYQKQSKHKKSLIDPK +MSKFSPIQESRDLEPDYSSYMTSSTSSIGGISSRARLLQDDITFGLRKNITDQQKFMGSSLGTGLGTLGNTIRSALQDEADKPYSSGSRSRPSSRPSSVY +GLDLSIKRDSSSSSLRLKAQEAEALDVSFSHASSSARTKPTSLPISQSRGRIPIVAQNSEEESPLSPVGQPMGMARAAAGPLPPISADTRDQFGSSHSLP +EVQQHMREESRTRGYDRDIAFIMDDFQHAMSDSEAYHLRREETDWFDKPRESRLENGHGLDRKLPERLVHSRPLSQHQEQIIQMNGKTMHYIFPHARIKI +TRDSKDHTVSGNGLGIRIVGGKEIPGHSGEIGAYIAKILPGGSAEQTGKLMEGMQVLEWNGIPLTSKTYEEVQSIISQQSGEAEICVRLDLNMLSDSENS +QHLELHEPPKAVDKAKSPGVDPKQLAAELQKVSLQQSPLVLSSVVEKGSHVHSGPTSAGSSSVPSPGQPGSPSVSKKKHGSSKPTDGTKVVSHPITGEIQ +LQINYDLGNLIIHILQARNLVPRDNNGYSDPFVKVYLLPGRGQVMVVQNASAEYKRRTKHVQKSLNPEWNQTVIYKSISMEQLKKKTLEVTVWDYDRFSS +NDFLGEVLIDLSSTSHLDNTPRWYPLKEQTESIDHGKSHSSQSSQQSPKPSVIKSRSHGIFPDPSKDMQVPTIEKSHSSPGSSKSSSEGHLRSHGPSRSQ +SKTSVTQTHLEDAGAAIAAAEAAVQQLRIQPTKPPNHRPAESSVSTGSSGSSFGSGYSVDSEGSSSTAGETNLFPIPRIGKMGQNGQEPVKQPGVGVGLA +DTEAKTQVMGEIKIALKKEMKTDGEQLIVEILQCRNITYKFKSPDHLPDLYVKIYVMNISTQKKVIKKKTRVCRHDREPSFNETFRFSLSPAGHSLQILL +FSNGGKFMKKTLIGEACIWLDKVDLRKRIVNWHKLLVSPTQTH* +>line18096 NM_005222 WILDTYPE +MMTMTTMADGLEGQDSSKSAFMEFGQQQQQQQQQQQQQQQQQQQPPPPPPPPPQPHSQQSSPAMAGAHYPLHCLHSAAAAAAAGSHHHHHHQHHHHGSPY +ASGGGNSYNHRSLAAYPYMSHSQHSPYLQSYHNSSAAAQTRGDDTDQQKTTVIENGEIRFNGKGKKIRKPRTIYSSLQLQALNHRFQQTQYLALPERAEL +AASLGLTQTQVKIWFQNKRSKFKKLLKQGSNPHESDPLQGSAALSPRSPALPPVWDVSASAKGVSMPPNSYMPGYSHWYSSPHQDTMQRPQMM* +>line18096 NM_005222 c.132_134del p.P53del protein-altering (position 53 changed from P to ) +MMTMTTMADGLEGQDSSKSAFMEFGQQQQQQQQQQQQQQQQQQQPPPPPPPPQPHSQQSSPAMAGAHYPLHCLHSAAAAAAAGSHHHHHHQHHHHGSPYA +SGGGNSYNHRSLAAYPYMSHSQHSPYLQSYHNSSAAAQTRGDDTDQQKTTVIENGEIRFNGKGKKIRKPRTIYSSLQLQALNHRFQQTQYLALPERAELA +ASLGLTQTQVKIWFQNKRSKFKKLLKQGSNPHESDPLQGSAALSPRSPALPPVWDVSASAKGVSMPPNSYMPGYSHWYSSPHQDTMQRPQMM* +>line18118 NM_017715 WILDTYPE +METQADLVSQEPQALLDSALPSKVPAFSDKDSLGDEMLAAALLKAKSQELVTFEDVAVYFIRKEWKRLEPAQRDLYRDVMLENYGNVFSLDWIHVCLTTQ +KVMLAWLTGTLSVAKGLCSSELASVEPPDTF* +>line18118 NM_017715 c.292_295del p.T98Rfs*3 protein-altering (position 98-131 changed from TTQKVMLAWLTGTLSVAKGLCSSELASVEPPDTF to RKR) +METQADLVSQEPQALLDSALPSKVPAFSDKDSLGDEMLAAALLKAKSQELVTFEDVAVYFIRKEWKRLEPAQRDLYRDVMLENYGNVFSLDWIHVCLRKR +* +>line18143 NM_005960 WILDTYPE +MQLLGLLGLLWMLKASPWATGTLSTATSISQVPFPRAEAASAVLSNSPHSRDLAGWPLGVPQLASPAPGHRENAPMTLTTSPHDTLISETLLNSPVSSNT +STTPTSKFAFKVETTPPTVLVYSATTECVYPTSFIITISHPTSICVTTTQVAFTSSYTSTPVTQKPVTTVTSTYSMTTTEKGTSAMTSSPSTTTARETPI +VTVTPSSVSATDTTFHTTISSTTRTTERTPLPTGSIHTTTSPTPVFTTLKTAVTSTSPITSSITSTNTVTSMTTTASQPTATNTLSSPTRTILSSTPVLS +TETITSGITNTTPLSTLVTTLPTTISRSTPTSETTYPTSPTSTVTDSTTKIAYSTSMTGTLSTETSLPPTSSSLPTTETATTPMTNLVTTTTEISSHSTP +SFSSSTIYSTVTSHSTPRFTSSITTTETPSHSTPRFTSSFTNTKTTSHRSPSFTSLITTTETTSHSTPSFTSSITTTETTSHSARSFTSSITTTETTSHN +TRSFTSSITTTETNSHSTTSFTSSITTTETTSHSTPSFSSSITTTETPLHSTPGLTSWVTTTKTTSHITPGLTSSITTTETTSHSTPGFTSSITTTETTS +ESTPSLSSSTIYSTVSTSTTAITSHFTTSETAVTPTPVTPSSLSTDIPTTSLRTLTPSSVGTSTSLTTTTDFPSIPTDISTLPTRTHIISSSPSIQSTET +SSLVGTTSPTMSTVRMTLRITENTPISSFSTSIVVIPETPTQTPPVLTSATGTQTSPAPTTVTFGSTDSSTSTLHTLTPSTALSTIVSTSQVPIPSTHSS +TLQTTPSTPSLQTSLTSTSEFTTESFTRGSTSTNAILTSFSTIIWSSTPTIIMSSSPSSASITPVFSTTIHSVPSSPYIFSTENVGSASITGFPSLSSSA +TTSTSSTSSSLTTALTEITPFSYISLPSTTPCPGTITITIVPASPTDPCVEMDPSTEATSPPTTPLTVFPFTTEMVTCPTSISIQTTLTTYMDTSSMMPE +SESSISPNASSSTGTGTVPTNTVFTSTRLPTSETWLSNSSVIPLPLPGVSTIPLTMKPSSSLPTILRTSSKSTHPSPPTTRTSETPVATTQTPTTLTSRR +TTRITSQMTTQSTLTTTAGTCDNGGTWEQGQCACLPGFSGDRCQLQTRCQNGGQWDGLKCQCPSTFYGSSCEFAVEQVDLDVVETEVGMEVSVDQQFSPD +LNDNTSQAYRDFNKTFWNQMQKIFADMQGFTFKGVEILSLRNGSIVVDYLVLLEMPFSPQLESEYEQVKTTLKEGLQNASQDANSCQDSQTLCFKPDSIK +VNNNSKTELTPAAICRRAAPTGYEEFYFPLVEATRLRCVTKCTSGVDNAIDCHQGQCVLETSGPACRCYSTDTHWFSGPRCEVAVHWRALVGGLTAGAAL +LVLLLLALGVRAVRSGWWGGQRRGRSWDQDRKWFETWDEEVVGTFSNWGFEDDGTDKDTNFHVALENVDTTMKVHIKRPEMTSSSV* +>line18143 NM_005960 c.613_614insCCT p.S207_V208insS protein-altering (position 207-208 has insertion S) +MQLLGLLGLLWMLKASPWATGTLSTATSISQVPFPRAEAASAVLSNSPHSRDLAGWPLGVPQLASPAPGHRENAPMTLTTSPHDTLISETLLNSPVSSNT +STTPTSKFAFKVETTPPTVLVYSATTECVYPTSFIITISHPTSICVTTTQVAFTSSYTSTPVTQKPVTTVTSTYSMTTTEKGTSAMTSSPSTTTARETPI +VTVTPSSSVSATDTTFHTTISSTTRTTERTPLPTGSIHTTTSPTPVFTTLKTAVTSTSPITSSITSTNTVTSMTTTASQPTATNTLSSPTRTILSSTPVL +STETITSGITNTTPLSTLVTTLPTTISRSTPTSETTYPTSPTSTVTDSTTKIAYSTSMTGTLSTETSLPPTSSSLPTTETATTPMTNLVTTTTEISSHST +PSFSSSTIYSTVTSHSTPRFTSSITTTETPSHSTPRFTSSFTNTKTTSHRSPSFTSLITTTETTSHSTPSFTSSITTTETTSHSARSFTSSITTTETTSH +NTRSFTSSITTTETNSHSTTSFTSSITTTETTSHSTPSFSSSITTTETPLHSTPGLTSWVTTTKTTSHITPGLTSSITTTETTSHSTPGFTSSITTTETT +SESTPSLSSSTIYSTVSTSTTAITSHFTTSETAVTPTPVTPSSLSTDIPTTSLRTLTPSSVGTSTSLTTTTDFPSIPTDISTLPTRTHIISSSPSIQSTE +TSSLVGTTSPTMSTVRMTLRITENTPISSFSTSIVVIPETPTQTPPVLTSATGTQTSPAPTTVTFGSTDSSTSTLHTLTPSTALSTIVSTSQVPIPSTHS +STLQTTPSTPSLQTSLTSTSEFTTESFTRGSTSTNAILTSFSTIIWSSTPTIIMSSSPSSASITPVFSTTIHSVPSSPYIFSTENVGSASITGFPSLSSS +ATTSTSSTSSSLTTALTEITPFSYISLPSTTPCPGTITITIVPASPTDPCVEMDPSTEATSPPTTPLTVFPFTTEMVTCPTSISIQTTLTTYMDTSSMMP +ESESSISPNASSSTGTGTVPTNTVFTSTRLPTSETWLSNSSVIPLPLPGVSTIPLTMKPSSSLPTILRTSSKSTHPSPPTTRTSETPVATTQTPTTLTSR +RTTRITSQMTTQSTLTTTAGTCDNGGTWEQGQCACLPGFSGDRCQLQTRCQNGGQWDGLKCQCPSTFYGSSCEFAVEQVDLDVVETEVGMEVSVDQQFSP +DLNDNTSQAYRDFNKTFWNQMQKIFADMQGFTFKGVEILSLRNGSIVVDYLVLLEMPFSPQLESEYEQVKTTLKEGLQNASQDANSCQDSQTLCFKPDSI +KVNNNSKTELTPAAICRRAAPTGYEEFYFPLVEATRLRCVTKCTSGVDNAIDCHQGQCVLETSGPACRCYSTDTHWFSGPRCEVAVHWRALVGGLTAGAA +LLVLLLLALGVRAVRSGWWGGQRRGRSWDQDRKWFETWDEEVVGTFSNWGFEDDGTDKDTNFHVALENVDTTMKVHIKRPEMTSSSV* +>line18150 NM_005960 WILDTYPE +MQLLGLLGLLWMLKASPWATGTLSTATSISQVPFPRAEAASAVLSNSPHSRDLAGWPLGVPQLASPAPGHRENAPMTLTTSPHDTLISETLLNSPVSSNT +STTPTSKFAFKVETTPPTVLVYSATTECVYPTSFIITISHPTSICVTTTQVAFTSSYTSTPVTQKPVTTVTSTYSMTTTEKGTSAMTSSPSTTTARETPI +VTVTPSSVSATDTTFHTTISSTTRTTERTPLPTGSIHTTTSPTPVFTTLKTAVTSTSPITSSITSTNTVTSMTTTASQPTATNTLSSPTRTILSSTPVLS +TETITSGITNTTPLSTLVTTLPTTISRSTPTSETTYPTSPTSTVTDSTTKIAYSTSMTGTLSTETSLPPTSSSLPTTETATTPMTNLVTTTTEISSHSTP +SFSSSTIYSTVTSHSTPRFTSSITTTETPSHSTPRFTSSFTNTKTTSHRSPSFTSLITTTETTSHSTPSFTSSITTTETTSHSARSFTSSITTTETTSHN +TRSFTSSITTTETNSHSTTSFTSSITTTETTSHSTPSFSSSITTTETPLHSTPGLTSWVTTTKTTSHITPGLTSSITTTETTSHSTPGFTSSITTTETTS +ESTPSLSSSTIYSTVSTSTTAITSHFTTSETAVTPTPVTPSSLSTDIPTTSLRTLTPSSVGTSTSLTTTTDFPSIPTDISTLPTRTHIISSSPSIQSTET +SSLVGTTSPTMSTVRMTLRITENTPISSFSTSIVVIPETPTQTPPVLTSATGTQTSPAPTTVTFGSTDSSTSTLHTLTPSTALSTIVSTSQVPIPSTHSS +TLQTTPSTPSLQTSLTSTSEFTTESFTRGSTSTNAILTSFSTIIWSSTPTIIMSSSPSSASITPVFSTTIHSVPSSPYIFSTENVGSASITGFPSLSSSA +TTSTSSTSSSLTTALTEITPFSYISLPSTTPCPGTITITIVPASPTDPCVEMDPSTEATSPPTTPLTVFPFTTEMVTCPTSISIQTTLTTYMDTSSMMPE +SESSISPNASSSTGTGTVPTNTVFTSTRLPTSETWLSNSSVIPLPLPGVSTIPLTMKPSSSLPTILRTSSKSTHPSPPTTRTSETPVATTQTPTTLTSRR +TTRITSQMTTQSTLTTTAGTCDNGGTWEQGQCACLPGFSGDRCQLQTRCQNGGQWDGLKCQCPSTFYGSSCEFAVEQVDLDVVETEVGMEVSVDQQFSPD +LNDNTSQAYRDFNKTFWNQMQKIFADMQGFTFKGVEILSLRNGSIVVDYLVLLEMPFSPQLESEYEQVKTTLKEGLQNASQDANSCQDSQTLCFKPDSIK +VNNNSKTELTPAAICRRAAPTGYEEFYFPLVEATRLRCVTKCTSGVDNAIDCHQGQCVLETSGPACRCYSTDTHWFSGPRCEVAVHWRALVGGLTAGAAL +LVLLLLALGVRAVRSGWWGGQRRGRSWDQDRKWFETWDEEVVGTFSNWGFEDDGTDKDTNFHVALENVDTTMKVHIKRPEMTSSSV* +>line18150 NM_005960 c.1951_1952TC p.T650T silent (no amino acid change) +MQLLGLLGLLWMLKASPWATGTLSTATSISQVPFPRAEAASAVLSNSPHSRDLAGWPLGVPQLASPAPGHRENAPMTLTTSPHDTLISETLLNSPVSSNT +STTPTSKFAFKVETTPPTVLVYSATTECVYPTSFIITISHPTSICVTTTQVAFTSSYTSTPVTQKPVTTVTSTYSMTTTEKGTSAMTSSPSTTTARETPI +VTVTPSSVSATDTTFHTTISSTTRTTERTPLPTGSIHTTTSPTPVFTTLKTAVTSTSPITSSITSTNTVTSMTTTASQPTATNTLSSPTRTILSSTPVLS +TETITSGITNTTPLSTLVTTLPTTISRSTPTSETTYPTSPTSTVTDSTTKIAYSTSMTGTLSTETSLPPTSSSLPTTETATTPMTNLVTTTTEISSHSTP +SFSSSTIYSTVTSHSTPRFTSSITTTETPSHSTPRFTSSFTNTKTTSHRSPSFTSLITTTETTSHSTPSFTSSITTTETTSHSARSFTSSITTTETTSHN +TRSFTSSITTTETNSHSTTSFTSSITTTETTSHSTPSFSSSITTTETPLHSTPGLTSWVTTTKTTSHITPGLTSSITTTETTSHSTPGFTSSITTTETTS +ESTPSLSSSTIYSTVSTSTTAITSHFTTSETAVTPTPVTPSSLSTDIPTTSLRTLTPSSVGTSTSLTTTTDFPSIPTDISTLPTRTHIISSSPSIQSTET +SSLVGTTSPTMSTVRMTLRITENTPISSFSTSIVVIPETPTQTPPVLTSATGTQTSPAPTTVTFGSTDSSTSTLHTLTPSTALSTIVSTSQVPIPSTHSS +TLQTTPSTPSLQTSLTSTSEFTTESFTRGSTSTNAILTSFSTIIWSSTPTIIMSSSPSSASITPVFSTTIHSVPSSPYIFSTENVGSASITGFPSLSSSA +TTSTSSTSSSLTTALTEITPFSYISLPSTTPCPGTITITIVPASPTDPCVEMDPSTEATSPPTTPLTVFPFTTEMVTCPTSISIQTTLTTYMDTSSMMPE +SESSISPNASSSTGTGTVPTNTVFTSTRLPTSETWLSNSSVIPLPLPGVSTIPLTMKPSSSLPTILRTSSKSTHPSPPTTRTSETPVATTQTPTTLTSRR +TTRITSQMTTQSTLTTTAGTCDNGGTWEQGQCACLPGFSGDRCQLQTRCQNGGQWDGLKCQCPSTFYGSSCEFAVEQVDLDVVETEVGMEVSVDQQFSPD +LNDNTSQAYRDFNKTFWNQMQKIFADMQGFTFKGVEILSLRNGSIVVDYLVLLEMPFSPQLESEYEQVKTTLKEGLQNASQDANSCQDSQTLCFKPDSIK +VNNNSKTELTPAAICRRAAPTGYEEFYFPLVEATRLRCVTKCTSGVDNAIDCHQGQCVLETSGPACRCYSTDTHWFSGPRCEVAVHWRALVGGLTAGAAL +LVLLLLALGVRAVRSGWWGGQRRGRSWDQDRKWFETWDEEVVGTFSNWGFEDDGTDKDTNFHVALENVDTTMKVHIKRPEMTSSSV* +>line18153 NM_005960 WILDTYPE +MQLLGLLGLLWMLKASPWATGTLSTATSISQVPFPRAEAASAVLSNSPHSRDLAGWPLGVPQLASPAPGHRENAPMTLTTSPHDTLISETLLNSPVSSNT +STTPTSKFAFKVETTPPTVLVYSATTECVYPTSFIITISHPTSICVTTTQVAFTSSYTSTPVTQKPVTTVTSTYSMTTTEKGTSAMTSSPSTTTARETPI +VTVTPSSVSATDTTFHTTISSTTRTTERTPLPTGSIHTTTSPTPVFTTLKTAVTSTSPITSSITSTNTVTSMTTTASQPTATNTLSSPTRTILSSTPVLS +TETITSGITNTTPLSTLVTTLPTTISRSTPTSETTYPTSPTSTVTDSTTKIAYSTSMTGTLSTETSLPPTSSSLPTTETATTPMTNLVTTTTEISSHSTP +SFSSSTIYSTVTSHSTPRFTSSITTTETPSHSTPRFTSSFTNTKTTSHRSPSFTSLITTTETTSHSTPSFTSSITTTETTSHSARSFTSSITTTETTSHN +TRSFTSSITTTETNSHSTTSFTSSITTTETTSHSTPSFSSSITTTETPLHSTPGLTSWVTTTKTTSHITPGLTSSITTTETTSHSTPGFTSSITTTETTS +ESTPSLSSSTIYSTVSTSTTAITSHFTTSETAVTPTPVTPSSLSTDIPTTSLRTLTPSSVGTSTSLTTTTDFPSIPTDISTLPTRTHIISSSPSIQSTET +SSLVGTTSPTMSTVRMTLRITENTPISSFSTSIVVIPETPTQTPPVLTSATGTQTSPAPTTVTFGSTDSSTSTLHTLTPSTALSTIVSTSQVPIPSTHSS +TLQTTPSTPSLQTSLTSTSEFTTESFTRGSTSTNAILTSFSTIIWSSTPTIIMSSSPSSASITPVFSTTIHSVPSSPYIFSTENVGSASITGFPSLSSSA +TTSTSSTSSSLTTALTEITPFSYISLPSTTPCPGTITITIVPASPTDPCVEMDPSTEATSPPTTPLTVFPFTTEMVTCPTSISIQTTLTTYMDTSSMMPE +SESSISPNASSSTGTGTVPTNTVFTSTRLPTSETWLSNSSVIPLPLPGVSTIPLTMKPSSSLPTILRTSSKSTHPSPPTTRTSETPVATTQTPTTLTSRR +TTRITSQMTTQSTLTTTAGTCDNGGTWEQGQCACLPGFSGDRCQLQTRCQNGGQWDGLKCQCPSTFYGSSCEFAVEQVDLDVVETEVGMEVSVDQQFSPD +LNDNTSQAYRDFNKTFWNQMQKIFADMQGFTFKGVEILSLRNGSIVVDYLVLLEMPFSPQLESEYEQVKTTLKEGLQNASQDANSCQDSQTLCFKPDSIK +VNNNSKTELTPAAICRRAAPTGYEEFYFPLVEATRLRCVTKCTSGVDNAIDCHQGQCVLETSGPACRCYSTDTHWFSGPRCEVAVHWRALVGGLTAGAAL +LVLLLLALGVRAVRSGWWGGQRRGRSWDQDRKWFETWDEEVVGTFSNWGFEDDGTDKDTNFHVALENVDTTMKVHIKRPEMTSSSV* +>line18153 NM_005960 c.1973_1974TA p.S658L protein-altering (position 658 changed from S to L) +MQLLGLLGLLWMLKASPWATGTLSTATSISQVPFPRAEAASAVLSNSPHSRDLAGWPLGVPQLASPAPGHRENAPMTLTTSPHDTLISETLLNSPVSSNT +STTPTSKFAFKVETTPPTVLVYSATTECVYPTSFIITISHPTSICVTTTQVAFTSSYTSTPVTQKPVTTVTSTYSMTTTEKGTSAMTSSPSTTTARETPI +VTVTPSSVSATDTTFHTTISSTTRTTERTPLPTGSIHTTTSPTPVFTTLKTAVTSTSPITSSITSTNTVTSMTTTASQPTATNTLSSPTRTILSSTPVLS +TETITSGITNTTPLSTLVTTLPTTISRSTPTSETTYPTSPTSTVTDSTTKIAYSTSMTGTLSTETSLPPTSSSLPTTETATTPMTNLVTTTTEISSHSTP +SFSSSTIYSTVTSHSTPRFTSSITTTETPSHSTPRFTSSFTNTKTTSHRSPSFTSLITTTETTSHSTPSFTSSITTTETTSHSARSFTSSITTTETTSHN +TRSFTSSITTTETNSHSTTSFTSSITTTETTSHSTPSFSSSITTTETPLHSTPGLTSWVTTTKTTSHITPGLTSSITTTETTSHSTPGFTSSITTTETTS +ESTPSLSSSTIYSTVSTSTTAITSHFTTSETAVTPTPVTPSSLSTDIPTTSLRTLTPLSVGTSTSLTTTTDFPSIPTDISTLPTRTHIISSSPSIQSTET +SSLVGTTSPTMSTVRMTLRITENTPISSFSTSIVVIPETPTQTPPVLTSATGTQTSPAPTTVTFGSTDSSTSTLHTLTPSTALSTIVSTSQVPIPSTHSS +TLQTTPSTPSLQTSLTSTSEFTTESFTRGSTSTNAILTSFSTIIWSSTPTIIMSSSPSSASITPVFSTTIHSVPSSPYIFSTENVGSASITGFPSLSSSA +TTSTSSTSSSLTTALTEITPFSYISLPSTTPCPGTITITIVPASPTDPCVEMDPSTEATSPPTTPLTVFPFTTEMVTCPTSISIQTTLTTYMDTSSMMPE +SESSISPNASSSTGTGTVPTNTVFTSTRLPTSETWLSNSSVIPLPLPGVSTIPLTMKPSSSLPTILRTSSKSTHPSPPTTRTSETPVATTQTPTTLTSRR +TTRITSQMTTQSTLTTTAGTCDNGGTWEQGQCACLPGFSGDRCQLQTRCQNGGQWDGLKCQCPSTFYGSSCEFAVEQVDLDVVETEVGMEVSVDQQFSPD +LNDNTSQAYRDFNKTFWNQMQKIFADMQGFTFKGVEILSLRNGSIVVDYLVLLEMPFSPQLESEYEQVKTTLKEGLQNASQDANSCQDSQTLCFKPDSIK +VNNNSKTELTPAAICRRAAPTGYEEFYFPLVEATRLRCVTKCTSGVDNAIDCHQGQCVLETSGPACRCYSTDTHWFSGPRCEVAVHWRALVGGLTAGAAL +LVLLLLALGVRAVRSGWWGGQRRGRSWDQDRKWFETWDEEVVGTFSNWGFEDDGTDKDTNFHVALENVDTTMKVHIKRPEMTSSSV* +>line18157 NM_005960 WILDTYPE +MQLLGLLGLLWMLKASPWATGTLSTATSISQVPFPRAEAASAVLSNSPHSRDLAGWPLGVPQLASPAPGHRENAPMTLTTSPHDTLISETLLNSPVSSNT +STTPTSKFAFKVETTPPTVLVYSATTECVYPTSFIITISHPTSICVTTTQVAFTSSYTSTPVTQKPVTTVTSTYSMTTTEKGTSAMTSSPSTTTARETPI +VTVTPSSVSATDTTFHTTISSTTRTTERTPLPTGSIHTTTSPTPVFTTLKTAVTSTSPITSSITSTNTVTSMTTTASQPTATNTLSSPTRTILSSTPVLS +TETITSGITNTTPLSTLVTTLPTTISRSTPTSETTYPTSPTSTVTDSTTKIAYSTSMTGTLSTETSLPPTSSSLPTTETATTPMTNLVTTTTEISSHSTP +SFSSSTIYSTVTSHSTPRFTSSITTTETPSHSTPRFTSSFTNTKTTSHRSPSFTSLITTTETTSHSTPSFTSSITTTETTSHSARSFTSSITTTETTSHN +TRSFTSSITTTETNSHSTTSFTSSITTTETTSHSTPSFSSSITTTETPLHSTPGLTSWVTTTKTTSHITPGLTSSITTTETTSHSTPGFTSSITTTETTS +ESTPSLSSSTIYSTVSTSTTAITSHFTTSETAVTPTPVTPSSLSTDIPTTSLRTLTPSSVGTSTSLTTTTDFPSIPTDISTLPTRTHIISSSPSIQSTET +SSLVGTTSPTMSTVRMTLRITENTPISSFSTSIVVIPETPTQTPPVLTSATGTQTSPAPTTVTFGSTDSSTSTLHTLTPSTALSTIVSTSQVPIPSTHSS +TLQTTPSTPSLQTSLTSTSEFTTESFTRGSTSTNAILTSFSTIIWSSTPTIIMSSSPSSASITPVFSTTIHSVPSSPYIFSTENVGSASITGFPSLSSSA +TTSTSSTSSSLTTALTEITPFSYISLPSTTPCPGTITITIVPASPTDPCVEMDPSTEATSPPTTPLTVFPFTTEMVTCPTSISIQTTLTTYMDTSSMMPE +SESSISPNASSSTGTGTVPTNTVFTSTRLPTSETWLSNSSVIPLPLPGVSTIPLTMKPSSSLPTILRTSSKSTHPSPPTTRTSETPVATTQTPTTLTSRR +TTRITSQMTTQSTLTTTAGTCDNGGTWEQGQCACLPGFSGDRCQLQTRCQNGGQWDGLKCQCPSTFYGSSCEFAVEQVDLDVVETEVGMEVSVDQQFSPD +LNDNTSQAYRDFNKTFWNQMQKIFADMQGFTFKGVEILSLRNGSIVVDYLVLLEMPFSPQLESEYEQVKTTLKEGLQNASQDANSCQDSQTLCFKPDSIK +VNNNSKTELTPAAICRRAAPTGYEEFYFPLVEATRLRCVTKCTSGVDNAIDCHQGQCVLETSGPACRCYSTDTHWFSGPRCEVAVHWRALVGGLTAGAAL +LVLLLLALGVRAVRSGWWGGQRRGRSWDQDRKWFETWDEEVVGTFSNWGFEDDGTDKDTNFHVALENVDTTMKVHIKRPEMTSSSV* +>line18157 NM_005960 c.3016_3017AT p.S1006I protein-altering (position 1006 changed from S to I) +MQLLGLLGLLWMLKASPWATGTLSTATSISQVPFPRAEAASAVLSNSPHSRDLAGWPLGVPQLASPAPGHRENAPMTLTTSPHDTLISETLLNSPVSSNT +STTPTSKFAFKVETTPPTVLVYSATTECVYPTSFIITISHPTSICVTTTQVAFTSSYTSTPVTQKPVTTVTSTYSMTTTEKGTSAMTSSPSTTTARETPI +VTVTPSSVSATDTTFHTTISSTTRTTERTPLPTGSIHTTTSPTPVFTTLKTAVTSTSPITSSITSTNTVTSMTTTASQPTATNTLSSPTRTILSSTPVLS +TETITSGITNTTPLSTLVTTLPTTISRSTPTSETTYPTSPTSTVTDSTTKIAYSTSMTGTLSTETSLPPTSSSLPTTETATTPMTNLVTTTTEISSHSTP +SFSSSTIYSTVTSHSTPRFTSSITTTETPSHSTPRFTSSFTNTKTTSHRSPSFTSLITTTETTSHSTPSFTSSITTTETTSHSARSFTSSITTTETTSHN +TRSFTSSITTTETNSHSTTSFTSSITTTETTSHSTPSFSSSITTTETPLHSTPGLTSWVTTTKTTSHITPGLTSSITTTETTSHSTPGFTSSITTTETTS +ESTPSLSSSTIYSTVSTSTTAITSHFTTSETAVTPTPVTPSSLSTDIPTTSLRTLTPSSVGTSTSLTTTTDFPSIPTDISTLPTRTHIISSSPSIQSTET +SSLVGTTSPTMSTVRMTLRITENTPISSFSTSIVVIPETPTQTPPVLTSATGTQTSPAPTTVTFGSTDSSTSTLHTLTPSTALSTIVSTSQVPIPSTHSS +TLQTTPSTPSLQTSLTSTSEFTTESFTRGSTSTNAILTSFSTIIWSSTPTIIMSSSPSSASITPVFSTTIHSVPSSPYIFSTENVGSASITGFPSLSSSA +TTSTSSTSSSLTTALTEITPFSYISLPSTTPCPGTITITIVPASPTDPCVEMDPSTEATSPPTTPLTVFPFTTEMVTCPTSISIQTTLTTYMDTSSMMPE +SESSIIPNASSSTGTGTVPTNTVFTSTRLPTSETWLSNSSVIPLPLPGVSTIPLTMKPSSSLPTILRTSSKSTHPSPPTTRTSETPVATTQTPTTLTSRR +TTRITSQMTTQSTLTTTAGTCDNGGTWEQGQCACLPGFSGDRCQLQTRCQNGGQWDGLKCQCPSTFYGSSCEFAVEQVDLDVVETEVGMEVSVDQQFSPD +LNDNTSQAYRDFNKTFWNQMQKIFADMQGFTFKGVEILSLRNGSIVVDYLVLLEMPFSPQLESEYEQVKTTLKEGLQNASQDANSCQDSQTLCFKPDSIK +VNNNSKTELTPAAICRRAAPTGYEEFYFPLVEATRLRCVTKCTSGVDNAIDCHQGQCVLETSGPACRCYSTDTHWFSGPRCEVAVHWRALVGGLTAGAAL +LVLLLLALGVRAVRSGWWGGQRRGRSWDQDRKWFETWDEEVVGTFSNWGFEDDGTDKDTNFHVALENVDTTMKVHIKRPEMTSSSV* +>line18159 NM_005960 WILDTYPE +MQLLGLLGLLWMLKASPWATGTLSTATSISQVPFPRAEAASAVLSNSPHSRDLAGWPLGVPQLASPAPGHRENAPMTLTTSPHDTLISETLLNSPVSSNT +STTPTSKFAFKVETTPPTVLVYSATTECVYPTSFIITISHPTSICVTTTQVAFTSSYTSTPVTQKPVTTVTSTYSMTTTEKGTSAMTSSPSTTTARETPI +VTVTPSSVSATDTTFHTTISSTTRTTERTPLPTGSIHTTTSPTPVFTTLKTAVTSTSPITSSITSTNTVTSMTTTASQPTATNTLSSPTRTILSSTPVLS +TETITSGITNTTPLSTLVTTLPTTISRSTPTSETTYPTSPTSTVTDSTTKIAYSTSMTGTLSTETSLPPTSSSLPTTETATTPMTNLVTTTTEISSHSTP +SFSSSTIYSTVTSHSTPRFTSSITTTETPSHSTPRFTSSFTNTKTTSHRSPSFTSLITTTETTSHSTPSFTSSITTTETTSHSARSFTSSITTTETTSHN +TRSFTSSITTTETNSHSTTSFTSSITTTETTSHSTPSFSSSITTTETPLHSTPGLTSWVTTTKTTSHITPGLTSSITTTETTSHSTPGFTSSITTTETTS +ESTPSLSSSTIYSTVSTSTTAITSHFTTSETAVTPTPVTPSSLSTDIPTTSLRTLTPSSVGTSTSLTTTTDFPSIPTDISTLPTRTHIISSSPSIQSTET +SSLVGTTSPTMSTVRMTLRITENTPISSFSTSIVVIPETPTQTPPVLTSATGTQTSPAPTTVTFGSTDSSTSTLHTLTPSTALSTIVSTSQVPIPSTHSS +TLQTTPSTPSLQTSLTSTSEFTTESFTRGSTSTNAILTSFSTIIWSSTPTIIMSSSPSSASITPVFSTTIHSVPSSPYIFSTENVGSASITGFPSLSSSA +TTSTSSTSSSLTTALTEITPFSYISLPSTTPCPGTITITIVPASPTDPCVEMDPSTEATSPPTTPLTVFPFTTEMVTCPTSISIQTTLTTYMDTSSMMPE +SESSISPNASSSTGTGTVPTNTVFTSTRLPTSETWLSNSSVIPLPLPGVSTIPLTMKPSSSLPTILRTSSKSTHPSPPTTRTSETPVATTQTPTTLTSRR +TTRITSQMTTQSTLTTTAGTCDNGGTWEQGQCACLPGFSGDRCQLQTRCQNGGQWDGLKCQCPSTFYGSSCEFAVEQVDLDVVETEVGMEVSVDQQFSPD +LNDNTSQAYRDFNKTFWNQMQKIFADMQGFTFKGVEILSLRNGSIVVDYLVLLEMPFSPQLESEYEQVKTTLKEGLQNASQDANSCQDSQTLCFKPDSIK +VNNNSKTELTPAAICRRAAPTGYEEFYFPLVEATRLRCVTKCTSGVDNAIDCHQGQCVLETSGPACRCYSTDTHWFSGPRCEVAVHWRALVGGLTAGAAL +LVLLLLALGVRAVRSGWWGGQRRGRSWDQDRKWFETWDEEVVGTFSNWGFEDDGTDKDTNFHVALENVDTTMKVHIKRPEMTSSSV* +>line18159 NM_005960 c.3987_3988CT p.F1328F silent (no amino acid change) +MQLLGLLGLLWMLKASPWATGTLSTATSISQVPFPRAEAASAVLSNSPHSRDLAGWPLGVPQLASPAPGHRENAPMTLTTSPHDTLISETLLNSPVSSNT +STTPTSKFAFKVETTPPTVLVYSATTECVYPTSFIITISHPTSICVTTTQVAFTSSYTSTPVTQKPVTTVTSTYSMTTTEKGTSAMTSSPSTTTARETPI +VTVTPSSVSATDTTFHTTISSTTRTTERTPLPTGSIHTTTSPTPVFTTLKTAVTSTSPITSSITSTNTVTSMTTTASQPTATNTLSSPTRTILSSTPVLS +TETITSGITNTTPLSTLVTTLPTTISRSTPTSETTYPTSPTSTVTDSTTKIAYSTSMTGTLSTETSLPPTSSSLPTTETATTPMTNLVTTTTEISSHSTP +SFSSSTIYSTVTSHSTPRFTSSITTTETPSHSTPRFTSSFTNTKTTSHRSPSFTSLITTTETTSHSTPSFTSSITTTETTSHSARSFTSSITTTETTSHN +TRSFTSSITTTETNSHSTTSFTSSITTTETTSHSTPSFSSSITTTETPLHSTPGLTSWVTTTKTTSHITPGLTSSITTTETTSHSTPGFTSSITTTETTS +ESTPSLSSSTIYSTVSTSTTAITSHFTTSETAVTPTPVTPSSLSTDIPTTSLRTLTPSSVGTSTSLTTTTDFPSIPTDISTLPTRTHIISSSPSIQSTET +SSLVGTTSPTMSTVRMTLRITENTPISSFSTSIVVIPETPTQTPPVLTSATGTQTSPAPTTVTFGSTDSSTSTLHTLTPSTALSTIVSTSQVPIPSTHSS +TLQTTPSTPSLQTSLTSTSEFTTESFTRGSTSTNAILTSFSTIIWSSTPTIIMSSSPSSASITPVFSTTIHSVPSSPYIFSTENVGSASITGFPSLSSSA +TTSTSSTSSSLTTALTEITPFSYISLPSTTPCPGTITITIVPASPTDPCVEMDPSTEATSPPTTPLTVFPFTTEMVTCPTSISIQTTLTTYMDTSSMMPE +SESSISPNASSSTGTGTVPTNTVFTSTRLPTSETWLSNSSVIPLPLPGVSTIPLTMKPSSSLPTILRTSSKSTHPSPPTTRTSETPVATTQTPTTLTSRR +TTRITSQMTTQSTLTTTAGTCDNGGTWEQGQCACLPGFSGDRCQLQTRCQNGGQWDGLKCQCPSTFYGSSCEFAVEQVDLDVVETEVGMEVSVDQQFSPD +LNDNTSQAYRDFNKTFWNQMQKIFADMQGFTFKGVEILSLRNGSIVVDYLVLLEMPFSPQLESEYEQVKTTLKEGLQNASQDANSCQDSQTLCFKPDSIK +VNNNSKTELTPAAICRRAAPTGYEEFYFPLVEATRLRCVTKCTSGVDNAIDCHQGQCVLETSGPACRCYSTDTHWFSGPRCEVAVHWRALVGGLTAGAAL +LVLLLLALGVRAVRSGWWGGQRRGRSWDQDRKWFETWDEEVVGTFSNWGFEDDGTDKDTNFHVALENVDTTMKVHIKRPEMTSSSV* +>line18190 NM_005824 WILDTYPE +MRVVTIVILLCFCKAAELRKASPGSVRSRVNHGRAGGGRRGSNPVKRYAPGLPCDVYTYLHEKYLDCQERKLVYVLPGWPQDLLHMLLARNKIRTLKNNM +FSKFKKLKSLDLQQNEISKIESEAFFGLNKLTTLLLQHNQIKVLTEEVFIYTPLLSYLRLYDNPWHCTCEIETLISMLQIPRNRNLGNYAKCESPQEQKN +KKLRQIKSEQLCNEEEKEQLDPKPQVSGRPPVIKPEVDSTFCHNYVFPIQTLDCKRKELKKVPNNIPPDIVKLDLSYNKINQLRPKEFEDVHELKKLNLS +SNGIEFIDPGSLR* +>line18190 NM_005824 c.640_642del p.E216del protein-altering (position 216 changed from E to ) +MRVVTIVILLCFCKAAELRKASPGSVRSRVNHGRAGGGRRGSNPVKRYAPGLPCDVYTYLHEKYLDCQERKLVYVLPGWPQDLLHMLLARNKIRTLKNNM +FSKFKKLKSLDLQQNEISKIESEAFFGLNKLTTLLLQHNQIKVLTEEVFIYTPLLSYLRLYDNPWHCTCEIETLISMLQIPRNRNLGNYAKCESPQEQKN +KKLRQIKSEQLCNEEKEQLDPKPQVSGRPPVIKPEVDSTFCHNYVFPIQTLDCKRKELKKVPNNIPPDIVKLDLSYNKINQLRPKEFEDVHELKKLNLSS +NGIEFIDPGSLR* +>line18430 NM_001098627 WILDTYPE +MNQSIPVAPTPPRRVRLKPWLVAQVNSCQYPGLQWVNGEKKLFCIPWRHATRHGPSQDGDNTIFKAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDF +RLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSFGAGEEEEEEEELQRMLPSLSLTEDVKWPPTLQPPTLRPPTLQPPTLQPPVVLGPPAPDPSPL +APPPGNPAGFRELLSEVLEPGPLPASLPPAGEQLLPDLLISPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFP +SPEDIPSDKQRFYTNQLLDVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFG +EEWPDRKPREKKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAGLGVGQGPWPMHPAGMQ* +>line18430 NM_001098627 c.502_531del p.R175_L184del protein-altering (position 175-184 changed from RPPTLQPPTL to ) +MNQSIPVAPTPPRRVRLKPWLVAQVNSCQYPGLQWVNGEKKLFCIPWRHATRHGPSQDGDNTIFKAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDF +RLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSFGAGEEEEEEEELQRMLPSLSLTEDVKWPPTLQPPTLQPPVVLGPPAPDPSPLAPPPGNPAGF +RELLSEVLEPGPLPASLPPAGEQLLPDLLISPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFPSPEDIPSDKQ +RFYTNQLLDVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFGEEWPDRKPRE +KKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAGLGVGQGPWPMHPAGMQ* +>line18512 NM_001253775 WILDTYPE +MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTHFSELLDEFSQNVLGQLLNDPFLSEKSVSMEVEPSPTSPAPLIQAEHSYSLCEEPRAQSPFTHITT +SDSFNDDEVESEKWYLSTDFPSTSIKTEPVTDEPPPGLVPSVTLTITAISTPLEKEEPPLEMNTGVDSSCQTIIPKIKLEPHEVDQFLNFSPKEGLSALP +VSLWVMDMVSGSTEREYGERAGMSLYHRCCSWLYEIALFLKNKNFASK* +>line18512 NM_001253775 c.299_301del p.T100del protein-altering (position 100 changed from T to ) +MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTHFSELLDEFSQNVLGQLLNDPFLSEKSVSMEVEPSPTSPAPLIQAEHSYSLCEEPRAQSPFTHITS +DSFNDDEVESEKWYLSTDFPSTSIKTEPVTDEPPPGLVPSVTLTITAISTPLEKEEPPLEMNTGVDSSCQTIIPKIKLEPHEVDQFLNFSPKEGLSALPV +SLWVMDMVSGSTEREYGERAGMSLYHRCCSWLYEIALFLKNKNFASK* +>line18628 NM_001270643 WILDTYPE +MPAYLNLQGSVRKAPHSPSRDTTRQRIKFSDDRVCKSHLLNCCPHDVLSGTRMDLGECLKVHDLALRADYEIASKEQDFFFELDAMDHLQSFIADCDRRT +EVAKKRLAETQEEISAEVAAKAERVHELNEEIGKLLAKVEQLGAEGNVEESQKVMDEVEKARAKKREAEEVYRNSMPASSFQQQKLRVCEVCSAYLGLHD +NDRRLADHFGGKLHLGFIEIREKLEELKRVVAEKQEKRNQERLKRREEREREEREKLRRSRSHSKNPKRSRSREHRRHRSRSMSRERKRRTRSKSREKRH +RHRSRSSSRSRSRSHQRSRHSSRDRSRERSKRRSSKERFRDQDLASCDRDRSSRDRSPRDRDRKDKKRSYESANGRSEDRRSSEEREAGEI* +>line18628 NM_001270643 c.741_742del p.E252Rfs*33 protein-altering (position 252-391 changed from EEREKLRRSRSHSKNPKRSRSREHRRHRSRSMSRERKRRTRSKSREKRHRHRSRSSSRSRSRSHQRSRHSSRDRSRERSKRRSSKERFRDQDLASCDRDRSSRDRSPRDRDRKDKKRSYESANGRSEDRRSSEEREAGEI to RKGEAEEVPITQQESKKIQVQRASQTSISLHVT) +MPAYLNLQGSVRKAPHSPSRDTTRQRIKFSDDRVCKSHLLNCCPHDVLSGTRMDLGECLKVHDLALRADYEIASKEQDFFFELDAMDHLQSFIADCDRRT +EVAKKRLAETQEEISAEVAAKAERVHELNEEIGKLLAKVEQLGAEGNVEESQKVMDEVEKARAKKREAEEVYRNSMPASSFQQQKLRVCEVCSAYLGLHD +NDRRLADHFGGKLHLGFIEIREKLEELKRVVAEKQEKRNQERLKRREERERRKGEAEEVPITQQESKKIQVQRASQTSISLHVT* +>line18880 NM_001001659 WILDTYPE +MEGNKTWITDITLPRFQVGPALEILLCGLFSAFYTLTLLGNGVIFGIICLDCKLHTPMYFFLSHLAIVDISYASNYVPKMLTNLMNQESTISFFPCIMQT +FLYLAFAHVECLILVVMSYDRYADICHPLRYNSLMSWRVCTVLAVASWVFSFLLALVPLVLILSLPFCGPHEINHFFCEILSVLKLACADTWLNQVVIFA +ACVFILVGPLCLVLVSYLRILAAILRIQSGEGRRKAFSTCSSHLCVVGLFFGSAIVTYMAPKSRHPEEQQKVLSLFYSLFNPMLNPLIYSLRNAEVKGAL +RRALRKERLT* +>line18880 NM_001001659 c.525_527del p.F177del protein-altering (position 177 changed from F to ) +MEGNKTWITDITLPRFQVGPALEILLCGLFSAFYTLTLLGNGVIFGIICLDCKLHTPMYFFLSHLAIVDISYASNYVPKMLTNLMNQESTISFFPCIMQT +FLYLAFAHVECLILVVMSYDRYADICHPLRYNSLMSWRVCTVLAVASWVFSFLLALVPLVLILSLPFCGPHEINHFCEILSVLKLACADTWLNQVVIFAA +CVFILVGPLCLVLVSYLRILAAILRIQSGEGRRKAFSTCSSHLCVVGLFFGSAIVTYMAPKSRHPEEQQKVLSLFYSLFNPMLNPLIYSLRNAEVKGALR +RALRKERLT* +>line19436 NM_178857 WILDTYPE +MNSTPRNAQAPSHRECFLPSVARTPSVTKVTPAKKITFLKRGDPRFAGVRLAVHQRAFKTFSALMDELSQRVPLSFGVRSVTTPRGLHSLSALEQLEDGG +CYLCSDKKPPKTPSGPGRPQERNPTAQQLRDVEGQREAPGTSSSRKSLKTPRRILLIKNMDPRLQQTVVLSHRNTRNLAAFLGKASDLLRFPVKQLYTTS +GKKVDSLQALLHSPSVLVCAGHEAFRTPAMKNARRSEAETLSGLTSRNKNGSWGPKTKPSVIHSRSPPGSTPRLPERPGPSNPPVGPAPGRHPQDTPAQS +GPLVAGDDMKKKVRMNEDGSLSVEMKVRFHLVGEDTLLWSRRMGRASALTAASGEDPVLGEVDPLCCVWEGYPWGFSEPGVWGPRPCRVGCREVFGRGGQ +PGPKYEIWTNPLHASQGERVAARKRWGLAQHVRCSGLWGHGTAGRERCSQDSASPASSTGLPEGSEPESSCCPRTPEDGVDSASPSAQIGAERKAGGSLG +EDPGLCIDGAGLGGPEQGGRLTPRARSEEGASSDSSASTGSHEGSSEWGGRPQGCPGKARAETSQQEASEGGDPASPALSLSSLRSDDLQAETQGQGTEQ +ATGAAVTREPLVLGLSCSWDSEGASSTPSTCTSSQQGQRRHRSRASAMSSPSSPGLGRVAPRGHPRHSHYRKDTHSPLDSSVTKQVPRPPERRRACQDGS +VPRYSGSSSSTRTQASGNLRPPSSGSLPSQDLLGTSSATVTPAVHSDFVSGVSPHNAPSAGWAGDAGSRTCSPAPIPPHTSDSCSKSGAASLGEEARDTP +QPSSPLVLQVGRPEQGAVGPHRSHCCSQPGTQPAQEAQRGPSPEASWLCGRYCPTPPRGRPCPQRRSSSCGSTGSSHQSTARGPGGSPQEGTRQPGPTPS +PGPNSGASRRSSASQGAGSRGLSEEKTLRSGGGPQGQEEASGVSPSSLPRSSPEAVVREWLDNIPEEPILMTYELADETTGAAGGGLRGPEVDPGDDHSL +EGLGEPAQAGQQSLEGDPGQDPEPEGALLGSSDTGPQSGEGVPQGAAPEGVSEAPAEAGADREAPAGCRVSLRALPGRVSASTQIMRALMGSKQGRPSSV +PEVSRPMARRLSCSAGALITCLASLQLFEEDLGSPASKVRFKDSPRYQELLSISKDLWPGCDVGEDQLDSGLWELTWSQALPDLGSHAMTENFTPTSSSG +VDISSGSGGSGESSVPCAMDGTLVTQGTELPLKTSNQRPDSRTYESPGDLENQQQCCFPTFLNARACACATNEDEAERDSEEQRASSNLEQLAENTVQEE +VQLEETKEGTEGEGLQEEAVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLP +EEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAA +ERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELL +LQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEH +TDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISER +GETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQ +PESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDV +EAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEG +VEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPE +AEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSS +SRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF +* +>line19436 NM_178857 c.4019_4020GG p.E1340G protein-altering (position 1340 changed from E to G) +MNSTPRNAQAPSHRECFLPSVARTPSVTKVTPAKKITFLKRGDPRFAGVRLAVHQRAFKTFSALMDELSQRVPLSFGVRSVTTPRGLHSLSALEQLEDGG +CYLCSDKKPPKTPSGPGRPQERNPTAQQLRDVEGQREAPGTSSSRKSLKTPRRILLIKNMDPRLQQTVVLSHRNTRNLAAFLGKASDLLRFPVKQLYTTS +GKKVDSLQALLHSPSVLVCAGHEAFRTPAMKNARRSEAETLSGLTSRNKNGSWGPKTKPSVIHSRSPPGSTPRLPERPGPSNPPVGPAPGRHPQDTPAQS +GPLVAGDDMKKKVRMNEDGSLSVEMKVRFHLVGEDTLLWSRRMGRASALTAASGEDPVLGEVDPLCCVWEGYPWGFSEPGVWGPRPCRVGCREVFGRGGQ +PGPKYEIWTNPLHASQGERVAARKRWGLAQHVRCSGLWGHGTAGRERCSQDSASPASSTGLPEGSEPESSCCPRTPEDGVDSASPSAQIGAERKAGGSLG +EDPGLCIDGAGLGGPEQGGRLTPRARSEEGASSDSSASTGSHEGSSEWGGRPQGCPGKARAETSQQEASEGGDPASPALSLSSLRSDDLQAETQGQGTEQ +ATGAAVTREPLVLGLSCSWDSEGASSTPSTCTSSQQGQRRHRSRASAMSSPSSPGLGRVAPRGHPRHSHYRKDTHSPLDSSVTKQVPRPPERRRACQDGS +VPRYSGSSSSTRTQASGNLRPPSSGSLPSQDLLGTSSATVTPAVHSDFVSGVSPHNAPSAGWAGDAGSRTCSPAPIPPHTSDSCSKSGAASLGEEARDTP +QPSSPLVLQVGRPEQGAVGPHRSHCCSQPGTQPAQEAQRGPSPEASWLCGRYCPTPPRGRPCPQRRSSSCGSTGSSHQSTARGPGGSPQEGTRQPGPTPS +PGPNSGASRRSSASQGAGSRGLSEEKTLRSGGGPQGQEEASGVSPSSLPRSSPEAVVREWLDNIPEEPILMTYELADETTGAAGGGLRGPEVDPGDDHSL +EGLGEPAQAGQQSLEGDPGQDPEPEGALLGSSDTGPQSGEGVPQGAAPEGVSEAPAEAGADREAPAGCRVSLRALPGRVSASTQIMRALMGSKQGRPSSV +PEVSRPMARRLSCSAGALITCLASLQLFEEDLGSPASKVRFKDSPRYQELLSISKDLWPGCDVGEDQLDSGLWELTWSQALPDLGSHAMTENFTPTSSSG +VDISSGSGGSGESSVPCAMDGTLVTQGTELPLKTSNQRPDSRTYESPGDLENQQQCCFPTFLNARACACATNEDEAERDSEEQRASSNLEQLAENTVQEE +VQLEETKEGTEGEGLQEEAVQLEETKTEEGLQEEGVQLEGTKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLP +EEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAA +ERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELL +LQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEH +TDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISER +GETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQ +PESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDV +EAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEG +VEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPE +AEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSS +SRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF +* +>line19511 NM_001348081 WILDTYPE +MSVAIRKRSWEEHVTHWMGQPFNSDDRNTACHHGLVADSLQASMEKDATLNVDRKEKCVSLPDCCHGSELRDFPGRPMGHLSKDVDENDSHEGEDQFLSL +EASTETLVHVSDEDNNADLCLTDDKQVLNTQGQKTSGQHMIQGAGSLEKALPIIQSNQVSSNSWGIAGETELALVKESGERKVTDSISKSLELCNEISLS +EIKDAPKVNAVDTLNVKDIAPEKQLLNSAVIAQQRRKPDPPKDENERSTCNVVQNEFLDTPCTNRGLPLLKTDFGSCLLQPPSCPNGMSAENGLEKSGFS +QHQNKSPPKVKAEDGMQCLQLKETLATQEPTDNQVRLRKRKEIREDRDRARLDSMVLLIMKLDQLDQDIENALSTSSSPSGTPTNLRRHVPDLESGSESG +ADTISVNQTRVNLSSDTESTDLPSSTPVANSGTKPKTTAIQGISEKEKAEIEAKEACDWLRATGFPQYAQLYEDFLFPIDISLVKREHDFLDRDAIEALC +RRLNTLNKCAVMKLEISPHRKRSDDSDEDEPCAISGKWTFQRDSKRWSRLEEFDVFSPKQDLVPGSPDDSHPKDGPSPGGTLMDLSERQEVSSVRSLSST +GSLPSHAPPSEDAATPRTNSVISVCSSSNLAGNDDSFGSLPSPKELSSFSFSMKGHEKTAKSKTRSLLKRMESLKLKSSHHSKHKAPSKLGLIISGPILQ +EGMDEEKLKQLNCVEISALNGNRINVPMVRKRSVSNSTQTSSSSSQSETSSAVSTPSPVTRTRSLSACNKRVGMYLEGFDPFNQSTFNNVVEQNFKNRES +YPEDTVFYIPEDHKPGTFPKALTNGSFSPSGNNGSVNWRTGSFHGPGHISLRRENSSDSPKELKRRNSSSSMSSRLSIYDNVPGSILYSSSGDLADLENE +DIFPELDDILYHVKGMQRIVNQWSEKFSDEGDSDSALDSVSPCPSSPKQIHLDVDNDRTTPSDLDSTGNSLNEPEEPSEIPERRDSGVGASLTRSNRHRL +RWHSFQSSHRPSLNSVSLQINCQSVAQMNLLQKYSLLKLTALLEKYTPSNKHGFSWAVPKFMKRIKVPDYKDRSVFGVPLTVNVQRTGQPLPQSIQQAMR +YLRNHCLDQVGLFRKSGVKSRIQALRQMNEGAIDCVNYEGQSAYDVADMLKQYFRDLPEPLMTNKLSETFLQIYQYVPKDQRLQAIKAAIMLLPDENREV +LQTLLYFLSDVTAAVKENQMTPTNLAVCLAPSLFHLNTLKRENSSPRVMQRKQSLGKPDQKDLNENLAATQGLAHMIAECKKLFQVPEEMSRCRNSYTEQ +ELKPLTLEALGHLGNDDSADYQHFLQDCVDGLFKEVKEKFKGWVSYSTSEQAELSYKKVSEGPPLRLWRSVIEVPAVPEEILKRLLKEQHLWDVDLLDSK +VIEILDSQTEIYQYVQNSMAPHPARDYVVLRTWRTNLPKGACALLLTSVDHDRAPVVGVRVNVLLSRYLIEPCGPGKSKLTYMCRVDLRGHMPEWYTKSF +GHLCAAEVVKIRDSFSNQNTETKDTKSR* +>line19511 NM_001348081 c.762_763CG p.Q254_N255delinsHD protein-altering (position 254-255 changed from QN to HD) +MSVAIRKRSWEEHVTHWMGQPFNSDDRNTACHHGLVADSLQASMEKDATLNVDRKEKCVSLPDCCHGSELRDFPGRPMGHLSKDVDENDSHEGEDQFLSL +EASTETLVHVSDEDNNADLCLTDDKQVLNTQGQKTSGQHMIQGAGSLEKALPIIQSNQVSSNSWGIAGETELALVKESGERKVTDSISKSLELCNEISLS +EIKDAPKVNAVDTLNVKDIAPEKQLLNSAVIAQQRRKPDPPKDENERSTCNVVHDEFLDTPCTNRGLPLLKTDFGSCLLQPPSCPNGMSAENGLEKSGFS +QHQNKSPPKVKAEDGMQCLQLKETLATQEPTDNQVRLRKRKEIREDRDRARLDSMVLLIMKLDQLDQDIENALSTSSSPSGTPTNLRRHVPDLESGSESG +ADTISVNQTRVNLSSDTESTDLPSSTPVANSGTKPKTTAIQGISEKEKAEIEAKEACDWLRATGFPQYAQLYEDFLFPIDISLVKREHDFLDRDAIEALC +RRLNTLNKCAVMKLEISPHRKRSDDSDEDEPCAISGKWTFQRDSKRWSRLEEFDVFSPKQDLVPGSPDDSHPKDGPSPGGTLMDLSERQEVSSVRSLSST +GSLPSHAPPSEDAATPRTNSVISVCSSSNLAGNDDSFGSLPSPKELSSFSFSMKGHEKTAKSKTRSLLKRMESLKLKSSHHSKHKAPSKLGLIISGPILQ +EGMDEEKLKQLNCVEISALNGNRINVPMVRKRSVSNSTQTSSSSSQSETSSAVSTPSPVTRTRSLSACNKRVGMYLEGFDPFNQSTFNNVVEQNFKNRES +YPEDTVFYIPEDHKPGTFPKALTNGSFSPSGNNGSVNWRTGSFHGPGHISLRRENSSDSPKELKRRNSSSSMSSRLSIYDNVPGSILYSSSGDLADLENE +DIFPELDDILYHVKGMQRIVNQWSEKFSDEGDSDSALDSVSPCPSSPKQIHLDVDNDRTTPSDLDSTGNSLNEPEEPSEIPERRDSGVGASLTRSNRHRL +RWHSFQSSHRPSLNSVSLQINCQSVAQMNLLQKYSLLKLTALLEKYTPSNKHGFSWAVPKFMKRIKVPDYKDRSVFGVPLTVNVQRTGQPLPQSIQQAMR +YLRNHCLDQVGLFRKSGVKSRIQALRQMNEGAIDCVNYEGQSAYDVADMLKQYFRDLPEPLMTNKLSETFLQIYQYVPKDQRLQAIKAAIMLLPDENREV +LQTLLYFLSDVTAAVKENQMTPTNLAVCLAPSLFHLNTLKRENSSPRVMQRKQSLGKPDQKDLNENLAATQGLAHMIAECKKLFQVPEEMSRCRNSYTEQ +ELKPLTLEALGHLGNDDSADYQHFLQDCVDGLFKEVKEKFKGWVSYSTSEQAELSYKKVSEGPPLRLWRSVIEVPAVPEEILKRLLKEQHLWDVDLLDSK +VIEILDSQTEIYQYVQNSMAPHPARDYVVLRTWRTNLPKGACALLLTSVDHDRAPVVGVRVNVLLSRYLIEPCGPGKSKLTYMCRVDLRGHMPEWYTKSF +GHLCAAEVVKIRDSFSNQNTETKDTKSR* +>line19796 NM_000553 WILDTYPE +MSEKKLETTAQQRKCPEWMNVQNKRCAVEERKACVRKSVFEDDLPFLEFTGSIVYSYDASDCSFLSEDISMSLSDGDVVGFDMEWPPLYNRGKLGKVALI +QLCVSESKCYLFHVSSMSVFPQGLKMLLENKAVKKAGVGIEGDQWKLLRDFDIKLKNFVELTDVANKKLKCTETWSLNSLVKHLLGKQLLKDKSIRCSNW +SKFPLTEDQKLYAATDAYAGFIIYRNLEILDDTVQRFAINKEEEILLSDMNKQLTSISEEVMDLAKHLPHAFSKLENPRRVSILLKDISENLYSLRRMII +GSTNIETELRPSNNLNLLSFEDSTTGGVQQKQIREHEVLIHVEDETWDPTLDHLAKHDGEDVLGNKVERKEDGFEDGVEDNKLKENMERACLMSLDITEH +ELQILEQQSQEEYLSDIAYKSTEHLSPNDNENDTSYVIESDEDLEMEMLKHLSPNDNENDTSYVIESDEDLEMEMLKSLENLNSGTVEPTHSKCLKMERN +LGLPTKEEEEDDENEANEGEEDDDKDFLWPAPNEEQVTCLKMYFGHSSFKPVQWKVIHSVLEERRDNVAVMATGYGKSLCFQYPPVYVGKIGLVISPLIS +LMEDQVLQLKMSNIPACFLGSAQSENVLTDIKLGKYRIVYVTPEYCSGNMGLLQQLEADIGITLIAVDEAHCISEWGHDFRDSFRKLGSLKTALPMVPIV +ALTATASSSIREDIVRCLNLRNPQITCTGFDRPNLYLEVRRKTGNILQDLQPFLVKTSSHWEFEGPTIIYCPSRKMTQQVTGELRKLNLSCGTYHAGMSF +STRKDIHHRFVRDEIQCVIATIAFGMGINKADIRQVIHYGAPKDMESYYQEIGRAGRDGLQSSCHVLWAPADINLNRHLLTEIRNEKFRLYKLKMMAKME +KYLHSSRCRRQIILSHFEDKQVQKASLGIMGTEKCCDNCRSRLDHCYSMDDSEDTSWDFGPQAFKLLSAVDILGEKFGIGLPILFLRGSNSQRLADQYRR +HSLFGTGKDQTESWWKAFSRQLITEGFLVEVSRYNKFMKICALTKKGRNWLHKANTESQSLILQANEELCPKKLLLPSSKTVSSGTKEHCYNQVPVELST +EKKSNLEKLYSYKPCDKISSGSNISKKSIMVQSPEKAYSSSQPVISAQEQETQIVLYGKLVEARQKHANKMDVPPAILATNKILVDMAKMRPTTVENVKR +IDGVSEGKAAMLAPLLEVIKHFCQTNSVQTDLFSSTKPQEEQKTSLVAKNKICTLSQSMAITYSLFQEKKMPLKSIAESRILPLMTIGMHLSQAVKAGCP +LDLERAGLTPEVQKIIADVIRNPPVNSDMSKISLIRMLVPENIDTYLIHMAIEILKHGPDSGLQPSCDVNKRRCFPGSEEICSSSKRSKEEVGINTETSS +AERKRRLPVWFAKGSDTSKKLMDKTKRGGLFS* +>line19796 NM_000553 c.1517_1519del p.E510del protein-altering (position 510 changed from E to ) +MSEKKLETTAQQRKCPEWMNVQNKRCAVEERKACVRKSVFEDDLPFLEFTGSIVYSYDASDCSFLSEDISMSLSDGDVVGFDMEWPPLYNRGKLGKVALI +QLCVSESKCYLFHVSSMSVFPQGLKMLLENKAVKKAGVGIEGDQWKLLRDFDIKLKNFVELTDVANKKLKCTETWSLNSLVKHLLGKQLLKDKSIRCSNW +SKFPLTEDQKLYAATDAYAGFIIYRNLEILDDTVQRFAINKEEEILLSDMNKQLTSISEEVMDLAKHLPHAFSKLENPRRVSILLKDISENLYSLRRMII +GSTNIETELRPSNNLNLLSFEDSTTGGVQQKQIREHEVLIHVEDETWDPTLDHLAKHDGEDVLGNKVERKEDGFEDGVEDNKLKENMERACLMSLDITEH +ELQILEQQSQEEYLSDIAYKSTEHLSPNDNENDTSYVIESDEDLEMEMLKHLSPNDNENDTSYVIESDEDLEMEMLKSLENLNSGTVEPTHSKCLKMERN +LGLPTKEEEDDENEANEGEEDDDKDFLWPAPNEEQVTCLKMYFGHSSFKPVQWKVIHSVLEERRDNVAVMATGYGKSLCFQYPPVYVGKIGLVISPLISL +MEDQVLQLKMSNIPACFLGSAQSENVLTDIKLGKYRIVYVTPEYCSGNMGLLQQLEADIGITLIAVDEAHCISEWGHDFRDSFRKLGSLKTALPMVPIVA +LTATASSSIREDIVRCLNLRNPQITCTGFDRPNLYLEVRRKTGNILQDLQPFLVKTSSHWEFEGPTIIYCPSRKMTQQVTGELRKLNLSCGTYHAGMSFS +TRKDIHHRFVRDEIQCVIATIAFGMGINKADIRQVIHYGAPKDMESYYQEIGRAGRDGLQSSCHVLWAPADINLNRHLLTEIRNEKFRLYKLKMMAKMEK +YLHSSRCRRQIILSHFEDKQVQKASLGIMGTEKCCDNCRSRLDHCYSMDDSEDTSWDFGPQAFKLLSAVDILGEKFGIGLPILFLRGSNSQRLADQYRRH +SLFGTGKDQTESWWKAFSRQLITEGFLVEVSRYNKFMKICALTKKGRNWLHKANTESQSLILQANEELCPKKLLLPSSKTVSSGTKEHCYNQVPVELSTE +KKSNLEKLYSYKPCDKISSGSNISKKSIMVQSPEKAYSSSQPVISAQEQETQIVLYGKLVEARQKHANKMDVPPAILATNKILVDMAKMRPTTVENVKRI +DGVSEGKAAMLAPLLEVIKHFCQTNSVQTDLFSSTKPQEEQKTSLVAKNKICTLSQSMAITYSLFQEKKMPLKSIAESRILPLMTIGMHLSQAVKAGCPL +DLERAGLTPEVQKIIADVIRNPPVNSDMSKISLIRMLVPENIDTYLIHMAIEILKHGPDSGLQPSCDVNKRRCFPGSEEICSSSKRSKEEVGINTETSSA +ERKRRLPVWFAKGSDTSKKLMDKTKRGGLFS* +>line19812 NM_032664 WILDTYPE +MVRIQRRKLLASCLCVTATVFLLVTLQVMVELGKFERKEFKSSSLQDGHTKMEEAPTHLNSFLKKEGLTFNRKRKWELDSYPIMLWWSPLTGETGRLGQC +GADACFFTINRTYLHHHMTKAFLFYGTDFNIDSLPLPRKAHHDWAVFHEESPKNNYKLFHKPVITLFNYTATFSRHSHLPLTTQYLESIEVLKSLRYLVP +LQSKNKLRKRLAPLVYVQSDCDPPSDRDSYVRELMTYIEVDSYGECLRNKDLPQQLKNPASMDADGFYRIIAQYKFILAFENAVCDDYITEKFWRPLKLG +VVPVYYGSPSITDWLPSNKSAILVSEFSHPRELASYIRRLDSDDRLYEAYVEWKLKGEISNQRLLTALRERKWGVQDVNQDNYIDAFECMVCTKVWANIR +LQEKGLPPKRWEAEDTHLSCPEPTVFAFSPLRTPPLSSLREMWISSFEQSKKEAQALRWLVDRNQNFSSQEFWGLVFKD* +>line19812 NM_032664 c.901delG p.V301fs*0 protein-altering (position 301-479 changed from VVPVYYGSPSITDWLPSNKSAILVSEFSHPRELASYIRRLDSDDRLYEAYVEWKLKGEISNQRLLTALRERKWGVQDVNQDNYIDAFECMVCTKVWANIRLQEKGLPPKRWEAEDTHLSCPEPTVFAFSPLRTPPLSSLREMWISSFEQSKKEAQALRWLVDRNQNFSSQEFWGLVFKD to ) +MVRIQRRKLLASCLCVTATVFLLVTLQVMVELGKFERKEFKSSSLQDGHTKMEEAPTHLNSFLKKEGLTFNRKRKWELDSYPIMLWWSPLTGETGRLGQC +GADACFFTINRTYLHHHMTKAFLFYGTDFNIDSLPLPRKAHHDWAVFHEESPKNNYKLFHKPVITLFNYTATFSRHSHLPLTTQYLESIEVLKSLRYLVP +LQSKNKLRKRLAPLVYVQSDCDPPSDRDSYVRELMTYIEVDSYGECLRNKDLPQQLKNPASMDADGFYRIIAQYKFILAFENAVCDDYITEKFWRPLKLG +* +>line20215 NM_001099673 WILDTYPE +MAKNKLRGPKSRNVFHIASQKNFKAKNKAKPVTTNLKKINIMNEEKVNRVNKAFVNVQKELAHFAKSISLEPLQKELIPQQRHESKPVDEATRLMALL* +>line20215 NM_001099673 c.264_265insAATGTT p.V88_D89insNV protein-altering (position 88-89 has insertion NV) +MAKNKLRGPKSRNVFHIASQKNFKAKNKAKPVTTNLKKINIMNEEKVNRVNKAFVNVQKELAHFAKSISLEPLQKELIPQQRHESKPVNVDEATRLMALL +* +>line20223 NM_138817 WILDTYPE +MDRGEKIQLKRVFGYWWGTSFLLINIIGAGIFVSPKGVLAYSCMNVGVSLCVWAGCAILAMTSTLCSAEISISFPCSGAQYYFLKRYFGSTVAFLNLWTS +LFLGSGVVAGQALLLAEYSIQPFFPSCSVPKLPKKCLALAMLWIVGILTSRGVKEVTWLQIASSVLKVSILSFISLTGVVFLIRGKKENVERFQNAFDAE +LPDISHLIQAIFQGYFAYSGGACFTLIAGELKKPRTTIPKCIFTALPLVTVVYLLVNISYLTVLTPREILSSDAVAITWADRAFPSLAWIMPFAISTSLF +SNLLISIFKSSRPIYLASQEGQLPLLFNTLNSHSSPFTAVLLLVTLGSLAIILTSLIDLINYIFFTGSLWSILLMIGILRRRYQEPNLSIPYKVFLSFPL +ATIVIDVGLVVIPLVKSPNVHYVYVLLLVLSGLLFYIPLIHFKIRLAWFEKMTCYLQLLFNICLPDVSEE* +>line20223 NM_138817 c.1413_1420del p.*471* silent (no amino acid change) +MDRGEKIQLKRVFGYWWGTSFLLINIIGAGIFVSPKGVLAYSCMNVGVSLCVWAGCAILAMTSTLCSAEISISFPCSGAQYYFLKRYFGSTVAFLNLWTS +LFLGSGVVAGQALLLAEYSIQPFFPSCSVPKLPKKCLALAMLWIVGILTSRGVKEVTWLQIASSVLKVSILSFISLTGVVFLIRGKKENVERFQNAFDAE +LPDISHLIQAIFQGYFAYSGGACFTLIAGELKKPRTTIPKCIFTALPLVTVVYLLVNISYLTVLTPREILSSDAVAITWADRAFPSLAWIMPFAISTSLF +SNLLISIFKSSRPIYLASQEGQLPLLFNTLNSHSSPFTAVLLLVTLGSLAIILTSLIDLINYIFFTGSLWSILLMIGILRRRYQEPNLSIPYKVFLSFPL +ATIVIDVGLVVIPLVKSPNVHYVYVLLLVLSGLLFYIPLIHFKIRLAWFEKMTCYLQLLFNICLPDVSEE* +>line20371 NM_002568 WILDTYPE +MNPSAPSYPMASLYVGDLHPDVTEAMLYEKFSPAGPILSIRVCRDMITRRSLGYAYVNFQQPADAERALDTMNFDVIKGKPVRIMWSQRDPSLRKSGVGN +IFIKNLDKSIDNKALYDTFSAFGNILSCKVVCDENGSKGYGFVHFETQEAAERAIEKMNGMLLNDRKVFVGRFKSRKEREAELGARAKEFTNVYIKNFGE +DMDDERLKDLFGKFGPALSVKVMTDESGKSKGFGFVSFERHEDAQKAVDEMNGKELNGKQIYVGRAQKKVERQTELKRKFEQMKQDRITRYQGVNLYVKN +LDDGIDDERLRKEFSPFGTITSAKVMMEGGRSKGFGFVCFSSPEEATKAVTEMNGRIVATKPLYVALAQRKEERQAHLTNQYMQRMASVRAVPNPVINPY +QPAPPSGYFMAAIPQTQNRAAYYPPSQIAQLRPSPRWTAQGARPHPFQNMPGAIRPAAPRPPFSTMRPASSQVPRVMSTQRVANTSTQTMGPRPAAAAAA +ATPAVRTVPQYKYAAGVRNPQQHLNAQPQVTMQQPAVHVQGQEPLTASMLASAPPQEQKQMLGERLFPLIQAMHPTLAGKITGMLLEIDNSELLHMLESP +ESLRSKVDEAVAVLQAHQAKEAAQKAVNSATGVPTV* +>line20371 NM_002568 c.761_762insT p.K254Nfs*23 protein-altering (position 254-636 changed from KELNGKQIYVGRAQKKVERQTELKRKFEQMKQDRITRYQGVNLYVKNLDDGIDDERLRKEFSPFGTITSAKVMMEGGRSKGFGFVCFSSPEEATKAVTEMNGRIVATKPLYVALAQRKEERQAHLTNQYMQRMASVRAVPNPVINPYQPAPPSGYFMAAIPQTQNRAAYYPPSQIAQLRPSPRWTAQGARPHPFQNMPGAIRPAAPRPPFSTMRPASSQVPRVMSTQRVANTSTQTMGPRPAAAAAAATPAVRTVPQYKYAAGVRNPQQHLNAQPQVTMQQPAVHVQGQEPLTASMLASAPPQEQKQMLGERLFPLIQAMHPTLAGKITGMLLEIDNSELLHMLESPESLRSKVDEAVAVLQAHQAKEAAQKAVNSATGVPTV to NGAQWKTNLCWSSSEKGGTADGT) +MNPSAPSYPMASLYVGDLHPDVTEAMLYEKFSPAGPILSIRVCRDMITRRSLGYAYVNFQQPADAERALDTMNFDVIKGKPVRIMWSQRDPSLRKSGVGN +IFIKNLDKSIDNKALYDTFSAFGNILSCKVVCDENGSKGYGFVHFETQEAAERAIEKMNGMLLNDRKVFVGRFKSRKEREAELGARAKEFTNVYIKNFGE +DMDDERLKDLFGKFGPALSVKVMTDESGKSKGFGFVSFERHEDAQKAVDEMNGNGAQWKTNLCWSSSEKGGTADGT* +>line20378 NM_002568 WILDTYPE +MNPSAPSYPMASLYVGDLHPDVTEAMLYEKFSPAGPILSIRVCRDMITRRSLGYAYVNFQQPADAERALDTMNFDVIKGKPVRIMWSQRDPSLRKSGVGN +IFIKNLDKSIDNKALYDTFSAFGNILSCKVVCDENGSKGYGFVHFETQEAAERAIEKMNGMLLNDRKVFVGRFKSRKEREAELGARAKEFTNVYIKNFGE +DMDDERLKDLFGKFGPALSVKVMTDESGKSKGFGFVSFERHEDAQKAVDEMNGKELNGKQIYVGRAQKKVERQTELKRKFEQMKQDRITRYQGVNLYVKN +LDDGIDDERLRKEFSPFGTITSAKVMMEGGRSKGFGFVCFSSPEEATKAVTEMNGRIVATKPLYVALAQRKEERQAHLTNQYMQRMASVRAVPNPVINPY +QPAPPSGYFMAAIPQTQNRAAYYPPSQIAQLRPSPRWTAQGARPHPFQNMPGAIRPAAPRPPFSTMRPASSQVPRVMSTQRVANTSTQTMGPRPAAAAAA +ATPAVRTVPQYKYAAGVRNPQQHLNAQPQVTMQQPAVHVQGQEPLTASMLASAPPQEQKQMLGERLFPLIQAMHPTLAGKITGMLLEIDNSELLHMLESP +ESLRSKVDEAVAVLQAHQAKEAAQKAVNSATGVPTV* +>line20378 NM_002568 c.467_468insG p.M158Nfs*7 protein-altering (position 158-636 changed from MNGMLLNDRKVFVGRFKSRKEREAELGARAKEFTNVYIKNFGEDMDDERLKDLFGKFGPALSVKVMTDESGKSKGFGFVSFERHEDAQKAVDEMNGKELNGKQIYVGRAQKKVERQTELKRKFEQMKQDRITRYQGVNLYVKNLDDGIDDERLRKEFSPFGTITSAKVMMEGGRSKGFGFVCFSSPEEATKAVTEMNGRIVATKPLYVALAQRKEERQAHLTNQYMQRMASVRAVPNPVINPYQPAPPSGYFMAAIPQTQNRAAYYPPSQIAQLRPSPRWTAQGARPHPFQNMPGAIRPAAPRPPFSTMRPASSQVPRVMSTQRVANTSTQTMGPRPAAAAAAATPAVRTVPQYKYAAGVRNPQQHLNAQPQVTMQQPAVHVQGQEPLTASMLASAPPQEQKQMLGERLFPLIQAMHPTLAGKITGMLLEIDNSELLHMLESPESLRSKVDEAVAVLQAHQAKEAAQKAVNSATGVPTV to NEWNAPK) +MNPSAPSYPMASLYVGDLHPDVTEAMLYEKFSPAGPILSIRVCRDMITRRSLGYAYVNFQQPADAERALDTMNFDVIKGKPVRIMWSQRDPSLRKSGVGN +IFIKNLDKSIDNKALYDTFSAFGNILSCKVVCDENGSKGYGFVHFETQEAAERAIEKNEWNAPK* +>line20464 NM_177531 WILDTYPE +MGHLWLLGIWGLCGLLLCAADPSTDGSQIIPKVTEIIPKYGSINGATRLTIRGEGFSQANQFNYGVDNAELGNSVQLISSFQSITCDVEKDASHSTQITC +YTRAMPEDSYTVRVSVDGVPVTENNTCKGHINSWECTFNAKSFRTPTIRSITPLSGTPGTLITIQGRIFTDVYGSNIALSSNGKNVRILRVYIGGMPCEL +LIPQSDNLYGLKLDHPNGDMGSMVCKTTGTFIGHHNVSFILDNDYGRSFPQKMAYFVSSLNKIAMFQTYAEVTMIFPSQGSIRGGTTLTISGRFFDQTDF +PVRVLVGGEPCDILNVTENSICCKTPPKPHILKTVYPGGRGLKLEVWNNSRPIRLEEILEYNEKTPGYMGASWVDSASYIWLMEQDTFVARFSGFLVAPD +SDVYRFYIKGDDRYAIYFSQTGLPEDKVRIAYHSANANSYFSSPTQRSDDIHLQKGKEYYIEILLQEYRLSAFVDVGLYQYRNVYTEQQTGDAVNEEQVI +KSQSTILQEVQVITLENWETTNAINEVQKIKVTSPCVEANSCSLYQYRLIYNMEKTVFLPADASEFILQSALNDLWSIKPDTVQVIRTQNPQSYVYMVTF +ISTRGDFDLLGYEVVEGNNVTLDITEQTKGKPNLETFTLNWDGIASKPLTLWSSEAEFQGAVEEMVSTKCPPQIANFEEGFVVKYFRDYETDFNLEHINR +GQKTAETDAYCGRYSLKNPAVLFDSADVKPNRRPYGDILLFPYNQLCLAYKGFLANYIGLKFQYQDNSKITRSTDTQFTYNFAYGNNWTYTCIDLLDLVR +TKYTGTNVSLQRISLHKASESQSFYVDVVYIGHTSTISTLDEMPKRRLPALANKGIFLEHFQVNQTKTNGPTMTNQYSVTMTSYNCSYNIPMMAVSFGQI +ITHETENEFVYRGNNWPGESKIHIQRIQAASPPLSGSFDIQAYGHILKGLPAAVSAADLQFALQSLEGMGRISVTREGTCAGYAWNIKWRSTCGKQNLLQ +INDSNIIGEKANMTVTRIKEGGLFRQHVLGDLLRTPSQQPQVEVYVNGIPAKCSGDCGFTWDSNITPLVLAISPSQGSYEEGTILTIVGSGFSPSSAVTV +SVGPVGCSLLSVDEKELKCQILNGSAGHAPVAVSMADVGLAQNVGGEEFYFVYQSQISHIWPDSGSIAGGTLLTLSGFGFNENSKVLVGNETCNVIEGDL +NRITCRTPKKTEGTVDISVTTNGFQATARDAFSYNCLQTPIITDFSPKVRTILGEVNLTIKGYNFGNELTQNMAVYVGGKTCQILHWNFTDIRCLLPKLS +PGKHDIYVEVRNWGFASTRDKLNSSIQYVLEVTSMFPQRGSLFGGTEITIRGFGFSTIPAENTVLLGSIPCNVTSSSENVIKCILHSTGNIFRITNNGKD +SVHGLGYAWSPPVLNVSVGDTVAWHWQTHPFLRGIGYRIFSVSSPGSVIYDGKGFTSGRQKSTSGSFSYQFTSPGIHYYSSGYVDEAHSIFLQGVINVLP +AETRHIPLHLFVGRSEATYAYGGPENLHLGSSVAGCLATEPLCSLNNTRVKNSKRLLFEVSSCFSPSISNITPSTGTVNELITIIGHGFSNLPWANKVTI +GSYPCVVEESSEDSITCHIDPQNSMDVGIRETVTLTVYNLGTAINTLSNEFDRRFVLLPNIDLVLPNAGSTTGMTSVTIKGSGFAVSSAGVKVLMGHFPC +KVLSVNYTAIECETSPAAQQLVDVDLLIHGVPAQCQGNCTFSYLESITPYITGVFPNSVIGSVKVLIEGEGLGTVLEDIAVFIGNQQFRAIEVNENNITA +LVTPLPVGHHSVSVVVGSKGLALGNLTVSSPPVASLSPTSGSIGGGTTLVITGNGFYPGNTTVTIGDEPCQIISINPNEVYCRTPAGTTGMVDVKIFVNT +IAYPPLLFTYALEDTPFLRGIIPSRGPPGTEIEITGSNFGFEILEISVMINNIQCNVTMANDSVVQCIVGDHAGGTFPVMMHHKTKGSAMSTVVFEYPLN +IQNINPSQGSFGGGQTMTVTGTGFNPQNSIILVCGSECAIDRLRSDYTTLLCEIPSNNGTGAEQACEVSVVNGKDLSQSMTPFTYAVSLTPLITAVSPKR +GSTAGGTRLTVVGSGFSENMEDVHITIAEAKCDVEYSNKTHIICMTDAHTLSGWAPVCVHIRGVGMAKLDNADFLYVDAWSSNFSWGGKSPPEEGSLVVI +TKGQTILLDQSTPILKMLLIQGGTLIFDEADIELQAENILITDGGVLQIGTETSPFQHKAVITLHGHLRSPELPVYGAKTLAVREGILDLHGVPVPVTWT +RLAHTAKAGERILILQEAVTWKPGDNIVIASTGHRHSQGENEKMTIASVSADGINITLSNPLNYTHLGITVTLPDGTLFEARAEVGILTRNILIRGSDNV +EWNNKIPACPDGFDTGEFATQTCLQGKFGEEIGSDQFGGCVMFHAPVPGANMVTGRIEYVEVFHAGQAFRLGRYPIHWHLLGDLQFKSYVRGCAIHQAYN +RAVTIHNTHHLLVERNIIYDIKGGAFFIEDGIEHGNILQYNLAVFVQQSTSLLNDDVTPAAFWVTNPNNTIRHNAVAGGTHFGFWYRMNNHPDGPSYDRN +ICQKRVPLGEFFNNTVHSQGWFGMWIFEEYFPMQTGSCTSTVPAPAIFNSLTTWNCQKGAEWVNGGALQFHNFVMVNNYEAGIETKRILAPYVGGWGETN +GAVIKNAKIVGHLDELGMGSAFCTAKGLVLPFSEGLTVSSVHFMNFDRPNCVALGVTSISGVCNDRCGGWSAKFVDVQYSHTPNKAGFRWEHEMVMIDVD +GSLTGHKGHTVIPHSSLLDPSHCTQEAEWSIGFPGSVCDASVSFHRLAFNQPSPVSLLEKDVVLSDSFGTSIIPFQKKRLTHMSGWMALIPNANHINWYF +KGVDHITNISYTSTFYGFKEEDYVIISHNFTQNPDMFNIIDMRNGSSNPLNWNTSKNGDWHLEANTSTLYYLVSGRNDLHQSQLISGNLDPDVKDVVINF +QAYCCILQDCFPVHPPSRKPIPKKRPATYNLWSNDSFWQSSRENNYTVPHPGANVIIPEGTWIVADIDMPSMERLIIWGVLELEDKYNVGAAESSYREVV +LNATYISLQGGRLIGGWEDNPFKGDLKIVLRGNHTTQDWALPEGPNQGAKVLGVFGELDLHGIPHSIYKTKLSETAFAGSKVLSLMDAVDWQEGEEIVIT +TTSYDFHQTETRSIVKILHDHKILILNDSLSYTHFAEKYHVPGTGESYTLAADVGILSRNIKIVGEDYPGWSEDSFGARVLVGSFTENMMTFKGNARISN +VEFYHSGQEGFRDSTDPRYAVTFLNLGQIQEHGSSYIRGCAFHHGFSPAIGVFGTDGLDIDDNIIHFTVGEGIRIWGNANRVRGNLIALSVWPGTYQNRK +DLSSTLWHAAIEINRGTNTVLQNNVVAGFGRAGYRIDGEPCPGQFNPVEKWFDNEAHGGLYGIYMNQDGLPGCSLIQGFTIWTCWDYGIYFQTTESVHIY +NVTLVDNGMAIFPMIYMPAAISHKISSKNVQIKSSLIVGSSPGFNCSDVLTNDDPNIELTAAHRSPRSPSGGRSGICWPTFASAHNMAPRKPHAGIMSYN +AISGLLDISGSTFVGFKNVCSGETNVIFITNPLNEDLQHPIHVKNIKLVDTTEQSKIFIHRPDISKVNPSDCVDMVCDAKRKSFLRDIDGSFLGNAGSVI +PQAEYEWDGNSQVGIGDYRIPKAMLTFLNGSRIPVTEKAPHKGIIRDSTCKYLPEWQSYQCFGMEYAMMVIESLDPDTETRRLSPVAIMGNGYVDLINGP +QDHGWCAGYTCQRRLSLFHSIVALNKSYEVYFTGTSPQNLRLMLLNVDHNKAVLVGIFFSTLQRLDVYVNNLLVCPKTTIWNAQQKHCELNNHLYKDQFL +PNLDSTVLGENYFDGTYQMLYLLVKGTIPVEIHTATVIFVSFQLSVATEDDFYTSHNLVKNLALFLKIPSDKIRISKIRGKSLRRKRSMGFIIEIEIGDP +PIQFISNGTTGQMQLSELQEIAGSLGQAVILGNISSILGFNISSMSITNPLPSPSDSGWIKVTAQPVERSAFPVHHVAFVSSLLVITQPVAAQPGQPFPQ +QPSVKATDSDGNCVSVGITALTLRAILKDSNNNQVNGLSGNTTIPFSSCWANYTDLTPLRTGKNYKIEFILDNVVGVESRTFSLLAESVSSSGSSSSSNS +KASTVGTYAQIMTVVISCLVGRMWLLEIFMAAVSTLNITLRSY* +>line20464 NM_177531 c.12578_12580del p.S4198del protein-altering (position 4198 changed from S to ) +MGHLWLLGIWGLCGLLLCAADPSTDGSQIIPKVTEIIPKYGSINGATRLTIRGEGFSQANQFNYGVDNAELGNSVQLISSFQSITCDVEKDASHSTQITC +YTRAMPEDSYTVRVSVDGVPVTENNTCKGHINSWECTFNAKSFRTPTIRSITPLSGTPGTLITIQGRIFTDVYGSNIALSSNGKNVRILRVYIGGMPCEL +LIPQSDNLYGLKLDHPNGDMGSMVCKTTGTFIGHHNVSFILDNDYGRSFPQKMAYFVSSLNKIAMFQTYAEVTMIFPSQGSIRGGTTLTISGRFFDQTDF +PVRVLVGGEPCDILNVTENSICCKTPPKPHILKTVYPGGRGLKLEVWNNSRPIRLEEILEYNEKTPGYMGASWVDSASYIWLMEQDTFVARFSGFLVAPD +SDVYRFYIKGDDRYAIYFSQTGLPEDKVRIAYHSANANSYFSSPTQRSDDIHLQKGKEYYIEILLQEYRLSAFVDVGLYQYRNVYTEQQTGDAVNEEQVI +KSQSTILQEVQVITLENWETTNAINEVQKIKVTSPCVEANSCSLYQYRLIYNMEKTVFLPADASEFILQSALNDLWSIKPDTVQVIRTQNPQSYVYMVTF +ISTRGDFDLLGYEVVEGNNVTLDITEQTKGKPNLETFTLNWDGIASKPLTLWSSEAEFQGAVEEMVSTKCPPQIANFEEGFVVKYFRDYETDFNLEHINR +GQKTAETDAYCGRYSLKNPAVLFDSADVKPNRRPYGDILLFPYNQLCLAYKGFLANYIGLKFQYQDNSKITRSTDTQFTYNFAYGNNWTYTCIDLLDLVR +TKYTGTNVSLQRISLHKASESQSFYVDVVYIGHTSTISTLDEMPKRRLPALANKGIFLEHFQVNQTKTNGPTMTNQYSVTMTSYNCSYNIPMMAVSFGQI +ITHETENEFVYRGNNWPGESKIHIQRIQAASPPLSGSFDIQAYGHILKGLPAAVSAADLQFALQSLEGMGRISVTREGTCAGYAWNIKWRSTCGKQNLLQ +INDSNIIGEKANMTVTRIKEGGLFRQHVLGDLLRTPSQQPQVEVYVNGIPAKCSGDCGFTWDSNITPLVLAISPSQGSYEEGTILTIVGSGFSPSSAVTV +SVGPVGCSLLSVDEKELKCQILNGSAGHAPVAVSMADVGLAQNVGGEEFYFVYQSQISHIWPDSGSIAGGTLLTLSGFGFNENSKVLVGNETCNVIEGDL +NRITCRTPKKTEGTVDISVTTNGFQATARDAFSYNCLQTPIITDFSPKVRTILGEVNLTIKGYNFGNELTQNMAVYVGGKTCQILHWNFTDIRCLLPKLS +PGKHDIYVEVRNWGFASTRDKLNSSIQYVLEVTSMFPQRGSLFGGTEITIRGFGFSTIPAENTVLLGSIPCNVTSSSENVIKCILHSTGNIFRITNNGKD +SVHGLGYAWSPPVLNVSVGDTVAWHWQTHPFLRGIGYRIFSVSSPGSVIYDGKGFTSGRQKSTSGSFSYQFTSPGIHYYSSGYVDEAHSIFLQGVINVLP +AETRHIPLHLFVGRSEATYAYGGPENLHLGSSVAGCLATEPLCSLNNTRVKNSKRLLFEVSSCFSPSISNITPSTGTVNELITIIGHGFSNLPWANKVTI +GSYPCVVEESSEDSITCHIDPQNSMDVGIRETVTLTVYNLGTAINTLSNEFDRRFVLLPNIDLVLPNAGSTTGMTSVTIKGSGFAVSSAGVKVLMGHFPC +KVLSVNYTAIECETSPAAQQLVDVDLLIHGVPAQCQGNCTFSYLESITPYITGVFPNSVIGSVKVLIEGEGLGTVLEDIAVFIGNQQFRAIEVNENNITA +LVTPLPVGHHSVSVVVGSKGLALGNLTVSSPPVASLSPTSGSIGGGTTLVITGNGFYPGNTTVTIGDEPCQIISINPNEVYCRTPAGTTGMVDVKIFVNT +IAYPPLLFTYALEDTPFLRGIIPSRGPPGTEIEITGSNFGFEILEISVMINNIQCNVTMANDSVVQCIVGDHAGGTFPVMMHHKTKGSAMSTVVFEYPLN +IQNINPSQGSFGGGQTMTVTGTGFNPQNSIILVCGSECAIDRLRSDYTTLLCEIPSNNGTGAEQACEVSVVNGKDLSQSMTPFTYAVSLTPLITAVSPKR +GSTAGGTRLTVVGSGFSENMEDVHITIAEAKCDVEYSNKTHIICMTDAHTLSGWAPVCVHIRGVGMAKLDNADFLYVDAWSSNFSWGGKSPPEEGSLVVI +TKGQTILLDQSTPILKMLLIQGGTLIFDEADIELQAENILITDGGVLQIGTETSPFQHKAVITLHGHLRSPELPVYGAKTLAVREGILDLHGVPVPVTWT +RLAHTAKAGERILILQEAVTWKPGDNIVIASTGHRHSQGENEKMTIASVSADGINITLSNPLNYTHLGITVTLPDGTLFEARAEVGILTRNILIRGSDNV +EWNNKIPACPDGFDTGEFATQTCLQGKFGEEIGSDQFGGCVMFHAPVPGANMVTGRIEYVEVFHAGQAFRLGRYPIHWHLLGDLQFKSYVRGCAIHQAYN +RAVTIHNTHHLLVERNIIYDIKGGAFFIEDGIEHGNILQYNLAVFVQQSTSLLNDDVTPAAFWVTNPNNTIRHNAVAGGTHFGFWYRMNNHPDGPSYDRN +ICQKRVPLGEFFNNTVHSQGWFGMWIFEEYFPMQTGSCTSTVPAPAIFNSLTTWNCQKGAEWVNGGALQFHNFVMVNNYEAGIETKRILAPYVGGWGETN +GAVIKNAKIVGHLDELGMGSAFCTAKGLVLPFSEGLTVSSVHFMNFDRPNCVALGVTSISGVCNDRCGGWSAKFVDVQYSHTPNKAGFRWEHEMVMIDVD +GSLTGHKGHTVIPHSSLLDPSHCTQEAEWSIGFPGSVCDASVSFHRLAFNQPSPVSLLEKDVVLSDSFGTSIIPFQKKRLTHMSGWMALIPNANHINWYF +KGVDHITNISYTSTFYGFKEEDYVIISHNFTQNPDMFNIIDMRNGSSNPLNWNTSKNGDWHLEANTSTLYYLVSGRNDLHQSQLISGNLDPDVKDVVINF +QAYCCILQDCFPVHPPSRKPIPKKRPATYNLWSNDSFWQSSRENNYTVPHPGANVIIPEGTWIVADIDMPSMERLIIWGVLELEDKYNVGAAESSYREVV +LNATYISLQGGRLIGGWEDNPFKGDLKIVLRGNHTTQDWALPEGPNQGAKVLGVFGELDLHGIPHSIYKTKLSETAFAGSKVLSLMDAVDWQEGEEIVIT +TTSYDFHQTETRSIVKILHDHKILILNDSLSYTHFAEKYHVPGTGESYTLAADVGILSRNIKIVGEDYPGWSEDSFGARVLVGSFTENMMTFKGNARISN +VEFYHSGQEGFRDSTDPRYAVTFLNLGQIQEHGSSYIRGCAFHHGFSPAIGVFGTDGLDIDDNIIHFTVGEGIRIWGNANRVRGNLIALSVWPGTYQNRK +DLSSTLWHAAIEINRGTNTVLQNNVVAGFGRAGYRIDGEPCPGQFNPVEKWFDNEAHGGLYGIYMNQDGLPGCSLIQGFTIWTCWDYGIYFQTTESVHIY +NVTLVDNGMAIFPMIYMPAAISHKISSKNVQIKSSLIVGSSPGFNCSDVLTNDDPNIELTAAHRSPRSPSGGRSGICWPTFASAHNMAPRKPHAGIMSYN +AISGLLDISGSTFVGFKNVCSGETNVIFITNPLNEDLQHPIHVKNIKLVDTTEQSKIFIHRPDISKVNPSDCVDMVCDAKRKSFLRDIDGSFLGNAGSVI +PQAEYEWDGNSQVGIGDYRIPKAMLTFLNGSRIPVTEKAPHKGIIRDSTCKYLPEWQSYQCFGMEYAMMVIESLDPDTETRRLSPVAIMGNGYVDLINGP +QDHGWCAGYTCQRRLSLFHSIVALNKSYEVYFTGTSPQNLRLMLLNVDHNKAVLVGIFFSTLQRLDVYVNNLLVCPKTTIWNAQQKHCELNNHLYKDQFL +PNLDSTVLGENYFDGTYQMLYLLVKGTIPVEIHTATVIFVSFQLSVATEDDFYTSHNLVKNLALFLKIPSDKIRISKIRGKSLRRKRSMGFIIEIEIGDP +PIQFISNGTTGQMQLSELQEIAGSLGQAVILGNISSILGFNISSMSITNPLPSPSDSGWIKVTAQPVERSAFPVHHVAFVSSLLVITQPVAAQPGQPFPQ +QPSVKATDSDGNCVSVGITALTLRAILKDSNNNQVNGLSGNTTIPFSSCWANYTDLTPLRTGKNYKIEFILDNVVGVESRTFSLLAESVSSSGSSSSNSK +ASTVGTYAQIMTVVISCLVGRMWLLEIFMAAVSTLNITLRSY* +>line20568 NM_001081675 WILDTYPE +MDEESLDGLLFKDHDFSSDLLRQLNSLRQSRILTDVSICAGAREIPCHRNVLASSSPYFRAMFCSSFREKSEAKVQLKGIDPPTLDQIVSYVYTGEAHIA +TDNVLPVMEAASMLQFPKLFEACSSYLQSQLAPSNCLGMIRLSEILSCETLKKKAREVALTSFPEVAASADLKELCALELRDYLGDDGLCGEEEKVFEAL +MVWIKHDLQARKRYMQELFKQVRLQYIHPAFFHHFIANDALLQSSPACQIILETAKRQMFSLCGTTVPDCKLLLHVPPRNSYQDFLILLGGRKDSQQTTR +DVLLYSKQTGQWQSLAKLPTRLYKASAITLHRSIYVLGGMAVSSGRSLVSHNVYIFSLKLNQWRLGEPMLVARYSHRSTAHKNFIFSIGGIGEGQELMGS +MERYDSICNVWESMASMPVGVLHPAVAVKDQRLYLFGGEDIMQNPVRLIQVYHISRNSWFKMETRMIKNVCAPAVVLGERIVIVGGYTRRILAYDPQSNK +FVKCADMKDRRMHHGATVMGNKLYVTGGRRLTTDCNIEDSASFDCYDPETDTWTSQGQLPHKLFDHACLTLQCIPRTSGLP* +>line20568 NM_001081675 c.293_294GC p.H98R protein-altering (position 98 changed from H to R) +MDEESLDGLLFKDHDFSSDLLRQLNSLRQSRILTDVSICAGAREIPCHRNVLASSSPYFRAMFCSSFREKSEAKVQLKGIDPPTLDQIVSYVYTGEARIA +TDNVLPVMEAASMLQFPKLFEACSSYLQSQLAPSNCLGMIRLSEILSCETLKKKAREVALTSFPEVAASADLKELCALELRDYLGDDGLCGEEEKVFEAL +MVWIKHDLQARKRYMQELFKQVRLQYIHPAFFHHFIANDALLQSSPACQIILETAKRQMFSLCGTTVPDCKLLLHVPPRNSYQDFLILLGGRKDSQQTTR +DVLLYSKQTGQWQSLAKLPTRLYKASAITLHRSIYVLGGMAVSSGRSLVSHNVYIFSLKLNQWRLGEPMLVARYSHRSTAHKNFIFSIGGIGEGQELMGS +MERYDSICNVWESMASMPVGVLHPAVAVKDQRLYLFGGEDIMQNPVRLIQVYHISRNSWFKMETRMIKNVCAPAVVLGERIVIVGGYTRRILAYDPQSNK +FVKCADMKDRRMHHGATVMGNKLYVTGGRRLTTDCNIEDSASFDCYDPETDTWTSQGQLPHKLFDHACLTLQCIPRTSGLP* +>line20749 NM_000498 WILDTYPE +MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQGYEHLHLEMHQTFQELGPIFRYNLGGPRMVCVMLPEDVEKL +QQVDSLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPMVDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEAS +NLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFMPRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELS +LEAIKANSMELTAGSVDTTAFPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAG +TLVQVFLYSLGRNAALFPRPERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQEDIKMVYSFILRPGTSPLLTFR +AIN* +>line20749 NM_000498 c.1250delT p.F417Sfs*12 protein-altering (position 417-503 changed from FPRPERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQEDIKMVYSFILRPGTSPLLTFRAIN to SRGLSGIIPSAG) +MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQGYEHLHLEMHQTFQELGPIFRYNLGGPRMVCVMLPEDVEKL +QQVDSLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPMVDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEAS +NLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFMPRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELS +LEAIKANSMELTAGSVDTTAFPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAG +TLVQVFLYSLGRNAALSRGLSGIIPSAG* +>line20774 NM_015117 WILDTYPE +MEEKEILRRQIRLLQGLIDDYKTLHGNAPAPGTPAASGWQPPTYHSGRAFSARYPRPSRRGYSSHHGPSWRKKYSLVNRPPGPSDPPADHAVRPLHGARG +GQPPVPQQHVLERQVQLSQGQNVVIKVKPPSKSGSASASGAQRGSLEEFEETPWSDQRPREGEGEPPRGQLQPSRPTRARGTCSVEDPLLVCQKEPGKPR +MVKSVGSVGDSPREPRRTVSESVIAVKASFPSSALPPRTGVALGRKLGSHSVASCAPQLLGDRRVDAGHTDQPVPSGSVGGPARPASGPRQAREASLVVT +CRTNKFRKNNYKWVAASSKSPRVARRALSPRVAAENVCKASAGMANKVEKPQLIADPEPKPRKPATSSKPGSAPSKYKWKASSPSASSSSSFRWQSEASS +KDHASQLSPVLSRSPSGDRPAVGHSGLKPLSGETPLSAYKVKSRTKIIRRRSSTSLPGDKKSGTSPAATAKSHLSLRRRQALRGKSSPVLKKTPNKGLVQ +VTTHRLCRLPPSRAHLPTKEASSLHAVRTAPTSKVIKTRYRIVKKTPASPLSAPPFPLSLPSWRARRLSLSRSLVLNRLRPVASGGGKAQPGSPWWRSKG +YRCIGGVLYKVSANKLSKTSGQPSDAGSRPLLRTGRLDPAGSCSRSLASRAVQRSLAIIRQARQRREKRKEYCMYYNRFGRCNRGERCPYIHDPEKVAVC +TRFVRGTCKKTDGTCPFSHHVSKEKMPVCSYFLKGICSNSNCPYSHVYVSRKAEVCSDFLKGYCPLGAKCKKKHTLLCPDFARRGACPRGAQCQLLHRTQ +KRHSRRAATSPAPGPSDATARSRVSASHGPRKPSASQRPTRQTPSSAALTAAAVAAPPHCPGGSASPSSSKASSSSSSSSSPPASLDHEAPSLQEAALAA +ACSNRLCKLPSFISLQSSPSPGAQPRVRAPRAPLTKDSGKPLHIKPRL* +>line20774 NM_015117 c.2638_2639AA p.S880K protein-altering (position 880 changed from S to K) +MEEKEILRRQIRLLQGLIDDYKTLHGNAPAPGTPAASGWQPPTYHSGRAFSARYPRPSRRGYSSHHGPSWRKKYSLVNRPPGPSDPPADHAVRPLHGARG +GQPPVPQQHVLERQVQLSQGQNVVIKVKPPSKSGSASASGAQRGSLEEFEETPWSDQRPREGEGEPPRGQLQPSRPTRARGTCSVEDPLLVCQKEPGKPR +MVKSVGSVGDSPREPRRTVSESVIAVKASFPSSALPPRTGVALGRKLGSHSVASCAPQLLGDRRVDAGHTDQPVPSGSVGGPARPASGPRQAREASLVVT +CRTNKFRKNNYKWVAASSKSPRVARRALSPRVAAENVCKASAGMANKVEKPQLIADPEPKPRKPATSSKPGSAPSKYKWKASSPSASSSSSFRWQSEASS +KDHASQLSPVLSRSPSGDRPAVGHSGLKPLSGETPLSAYKVKSRTKIIRRRSSTSLPGDKKSGTSPAATAKSHLSLRRRQALRGKSSPVLKKTPNKGLVQ +VTTHRLCRLPPSRAHLPTKEASSLHAVRTAPTSKVIKTRYRIVKKTPASPLSAPPFPLSLPSWRARRLSLSRSLVLNRLRPVASGGGKAQPGSPWWRSKG +YRCIGGVLYKVSANKLSKTSGQPSDAGSRPLLRTGRLDPAGSCSRSLASRAVQRSLAIIRQARQRREKRKEYCMYYNRFGRCNRGERCPYIHDPEKVAVC +TRFVRGTCKKTDGTCPFSHHVSKEKMPVCSYFLKGICSNSNCPYSHVYVSRKAEVCSDFLKGYCPLGAKCKKKHTLLCPDFARRGACPRGAQCQLLHRTQ +KRHSRRAATSPAPGPSDATARSRVSASHGPRKPSASQRPTRQTPSSAALTAAAVAAPPHCPGGSASPSSSKASSSSSSSKSPPASLDHEAPSLQEAALAA +ACSNRLCKLPSFISLQSSPSPGAQPRVRAPRAPLTKDSGKPLHIKPRL* +>line21018 NM_002771 WILDTYPE +MNPFLILAFVGAAVAVPFDDDDKIVGGYTCEENSLPYQVSLNSGSHFCGGSLISEQWVVSAAHCYKTRIQVRLGEHNIKVLEGNEQFINAAKIIRHPKYN +RDTLDNDIMLIKLSSPAVINARVSTISLPTTPPAAGTECLISGWGNTLSFGADYPDELKCLDAPVLTQAECKASYPGKITNSMFCVGFLEGGKDSCQRDS +GGPVVCNGQLQGVVSWGHGCAWKNRPGVYTKVYNYVDWIKDTIAANS* +>line21018 NM_002771 c.91_93del p.E32del protein-altering (position 32 changed from E to ) +MNPFLILAFVGAAVAVPFDDDDKIVGGYTCENSLPYQVSLNSGSHFCGGSLISEQWVVSAAHCYKTRIQVRLGEHNIKVLEGNEQFINAAKIIRHPKYNR +DTLDNDIMLIKLSSPAVINARVSTISLPTTPPAAGTECLISGWGNTLSFGADYPDELKCLDAPVLTQAECKASYPGKITNSMFCVGFLEGGKDSCQRDSG +GPVVCNGQLQGVVSWGHGCAWKNRPGVYTKVYNYVDWIKDTIAANS* +>line21028 NM_001141917 WILDTYPE +MLSPTFVLWEVGYPLYIYGSIFIVIVIIWQVKRSHHELSSEPKRSCCRCHQKVRQRARDAASTARRRSREEAEKPQKLLSIIKSQGWLPLERSVRRILCA +DPCCQICNSVALEIQQLLVGENNQISLTLSGPLQGSSCLEMLSTSSMSLDQSLEFHSWHTRELSLSSVTPTLSQLTDQKSLTQSAAQSTYADGIQDYWAD +HLQLGQEFQVPDVLRGPNTIASSRIEKPRAPLNQEEMTQSNPSLVQGNQGQHHLNSQVSLLSLNPETLNRMHPMALHMVLPAHLPFLSPEVLRLLEVHVK +KWMHFQRWGLPRRVEESLRQLMPNPPLYYQPGNDQPVSFNLKNTPQVSLHRFETISLQTWCSCVAGQPIQTFWVSEWSTMNPEQRHHCQQTPNPMALALP +SPALKALSGPHPQSGGQDNDSGSDLQQKYSQLFCGLPSLHSESLVATFMGSQGLPKIENVPKPPLKDPFLFNELSFPQLLPKTSPQSAPPSSPLSPNWMS +PSDHQRAQINVPFLTLAEYEALEWHLLQRQLQLQWGWPAALQRSQHTQCLMQHEPCGKAQSPETTTASQTGKSISVLTRELLFFPEHARKLLEFHIQKQL +IRHRWGLPQKIQQSIQLLLTSTDQQTVSSSSTALANVSIPQPVALEANGACDVLSPIAAPVSIPRPHLLTQVKAILQSHIDSKCGQIHQGKIPACVHRSW +DCRISGVLAVAPFPCIPESQFLELQTASDPDLHHKVMPWMPTALDQQQQALPGTVTEHPKLLRVLSVEAIEKLETTLRHKHLAFLSGLPALYYVALPRAL +APAVTSQSVITEMEPSPVEIPAEPLIQMVSFEEQCISLGPCPQGNNESCTDVAKEFQPAVPVKGTMETLPLESQTHPTSPHSLQTHILTKLNFHLRKKVL +EIQWGIPIRARKSREQTVAAPENISTQKSLESLNHQGETLLQELPIPPDTLPAPNPEGVHLKEQLANDLKAVQQNQKQSNSKAVPQGSAHSVSKISQPSG +DMTEAHMPCVQVEANVNKPSLEEPCGPEPQSPSKSKDPAHVPMLAGNREDPEETKAARDHREGDAGFGRSSTREERRPAEDQRPAGMLPNKTPRGSWRWS +RSFHLADPCQHSPQHHPQLKLPQLPPRVPGEKESEKDLQDSQTKLTVILEPATIPENAQTVLPQASQGQPFLSQPTQAKPLQGQTLQGQVLHGLVMPVHA +QKKPSLTESSFRNKIKCFLQHINPKTKGKGHEDSMFSAAAKVAKTRKENVAKSLAPAKSPVGRSKTEKPTGCSKAQSRPAQKLVGPAFLDGPQSLDDKLR +LHSRQPGSASALGYPRHCPRHCPREACANKPGHPT* +>line21028 NM_001141917 c.597_598GT p.D200Y protein-altering (position 200 changed from D to Y) +MLSPTFVLWEVGYPLYIYGSIFIVIVIIWQVKRSHHELSSEPKRSCCRCHQKVRQRARDAASTARRRSREEAEKPQKLLSIIKSQGWLPLERSVRRILCA +DPCCQICNSVALEIQQLLVGENNQISLTLSGPLQGSSCLEMLSTSSMSLDQSLEFHSWHTRELSLSSVTPTLSQLTDQKSLTQSAAQSTYADGIQDYWAY +HLQLGQEFQVPDVLRGPNTIASSRIEKPRAPLNQEEMTQSNPSLVQGNQGQHHLNSQVSLLSLNPETLNRMHPMALHMVLPAHLPFLSPEVLRLLEVHVK +KWMHFQRWGLPRRVEESLRQLMPNPPLYYQPGNDQPVSFNLKNTPQVSLHRFETISLQTWCSCVAGQPIQTFWVSEWSTMNPEQRHHCQQTPNPMALALP +SPALKALSGPHPQSGGQDNDSGSDLQQKYSQLFCGLPSLHSESLVATFMGSQGLPKIENVPKPPLKDPFLFNELSFPQLLPKTSPQSAPPSSPLSPNWMS +PSDHQRAQINVPFLTLAEYEALEWHLLQRQLQLQWGWPAALQRSQHTQCLMQHEPCGKAQSPETTTASQTGKSISVLTRELLFFPEHARKLLEFHIQKQL +IRHRWGLPQKIQQSIQLLLTSTDQQTVSSSSTALANVSIPQPVALEANGACDVLSPIAAPVSIPRPHLLTQVKAILQSHIDSKCGQIHQGKIPACVHRSW +DCRISGVLAVAPFPCIPESQFLELQTASDPDLHHKVMPWMPTALDQQQQALPGTVTEHPKLLRVLSVEAIEKLETTLRHKHLAFLSGLPALYYVALPRAL +APAVTSQSVITEMEPSPVEIPAEPLIQMVSFEEQCISLGPCPQGNNESCTDVAKEFQPAVPVKGTMETLPLESQTHPTSPHSLQTHILTKLNFHLRKKVL +EIQWGIPIRARKSREQTVAAPENISTQKSLESLNHQGETLLQELPIPPDTLPAPNPEGVHLKEQLANDLKAVQQNQKQSNSKAVPQGSAHSVSKISQPSG +DMTEAHMPCVQVEANVNKPSLEEPCGPEPQSPSKSKDPAHVPMLAGNREDPEETKAARDHREGDAGFGRSSTREERRPAEDQRPAGMLPNKTPRGSWRWS +RSFHLADPCQHSPQHHPQLKLPQLPPRVPGEKESEKDLQDSQTKLTVILEPATIPENAQTVLPQASQGQPFLSQPTQAKPLQGQTLQGQVLHGLVMPVHA +QKKPSLTESSFRNKIKCFLQHINPKTKGKGHEDSMFSAAAKVAKTRKENVAKSLAPAKSPVGRSKTEKPTGCSKAQSRPAQKLVGPAFLDGPQSLDDKLR +LHSRQPGSASALGYPRHCPRHCPREACANKPGHPT* +>line21582 NM_005392 WILDTYPE +MATVPVYCVCRLPYDVTRFMIECDACKDWFHGSCVGVEEEEAPDIDIYHCPNCEKTHGKSTLKKKRTWHKHGPGQAPDVKPVQNGSQLFIKELRSRTFPS +AEDVVARVPGSQLTLGYMEEHGFTEPILVPKKDGLGLAVPAPTFYVSDVENYVGPERSVDVTDVTKQKDCKMKLKEFVDYYYSTNRKRVLNVTNLEFSDT +RMSSFVEPPDIVKKLSWVENYWPDDALLAKPKVTKYCLICVKDSYTDFHIDSGGASAWYHVLKGEKTFYLIRPASANISLYERWRSASNHSEMFFADQVD +KCYKCIVKQGQTLFIPSGWIYATLTPVDCLAFAGHFLHSLSVEMQMRAYEVERRLKLGSLTQFPNFETACWYMGKHLLEAFKGSHKSGKQLPPHLVQGAK +ILNGAFRSWTKKQALAEHEDELPEHFKPSQLIKDLAKEIRLSENASKAVRPEVNTVASSDEVCDGDREKEEPPSPIEATPPQSLLEKVSKKKTPKTVKMP +KPSKIPKPPKPPKPPRPPKTLKLKDGGKKKGKKSRESASPTIPNLDLLEAHTKEALTKMEPPKKGKATKSVLSVPNKDVVHMQNDVERLEIREQTKSKSE +AKWKYKNSKPDSLLKMEEEQKLEKSPLAGNKDNKFSFSFSNKKLLGSKALRPPTSPGVFGALQNFKEDKPKPVRDEYEYVSDDGELKIDEFPIRRKKNAP +KRDLSFLLDKKAVLPTPVTKPKLDSAAYKSDDSSDEGSLHIDTDTKPGRNARVKKESGSSAAGILDLLQASEEVGALEYNPSSQPPASPSTQEAIQGMLS +MANLQASDSCLQTTWGAGQAKGSSLAAHGARKNGGGSGKSAGKRLLKRAAKNSVDLDDYEEEQDHLDACFKDSDYVYPSLESDEDNPIFKSRSKKRKGSD +DAPYSPTARVGPSVPRQDRPVREGTRVASIETGLAAAAAKLSQQEEQKSKKKKSAKRKLTPNTTSPSTSTSISAGTTSTSTTPASTTPASTTPASTSTAS +SQASQEGSSPEPPPESHSSSLADHEYTAAGTFTGAQAGRTSQPMAPGVFLTQRRPSASSPNNNTAAKGKRTKKGMATAKQRLGKILKIHRNGKLLL* +>line21582 NM_005392 c.2961_2962insCCTGCCTCCACCACA p.T996_S997insTPAST protein-altering (position 996-997 has insertion TPAST) +MATVPVYCVCRLPYDVTRFMIECDACKDWFHGSCVGVEEEEAPDIDIYHCPNCEKTHGKSTLKKKRTWHKHGPGQAPDVKPVQNGSQLFIKELRSRTFPS +AEDVVARVPGSQLTLGYMEEHGFTEPILVPKKDGLGLAVPAPTFYVSDVENYVGPERSVDVTDVTKQKDCKMKLKEFVDYYYSTNRKRVLNVTNLEFSDT +RMSSFVEPPDIVKKLSWVENYWPDDALLAKPKVTKYCLICVKDSYTDFHIDSGGASAWYHVLKGEKTFYLIRPASANISLYERWRSASNHSEMFFADQVD +KCYKCIVKQGQTLFIPSGWIYATLTPVDCLAFAGHFLHSLSVEMQMRAYEVERRLKLGSLTQFPNFETACWYMGKHLLEAFKGSHKSGKQLPPHLVQGAK +ILNGAFRSWTKKQALAEHEDELPEHFKPSQLIKDLAKEIRLSENASKAVRPEVNTVASSDEVCDGDREKEEPPSPIEATPPQSLLEKVSKKKTPKTVKMP +KPSKIPKPPKPPKPPRPPKTLKLKDGGKKKGKKSRESASPTIPNLDLLEAHTKEALTKMEPPKKGKATKSVLSVPNKDVVHMQNDVERLEIREQTKSKSE +AKWKYKNSKPDSLLKMEEEQKLEKSPLAGNKDNKFSFSFSNKKLLGSKALRPPTSPGVFGALQNFKEDKPKPVRDEYEYVSDDGELKIDEFPIRRKKNAP +KRDLSFLLDKKAVLPTPVTKPKLDSAAYKSDDSSDEGSLHIDTDTKPGRNARVKKESGSSAAGILDLLQASEEVGALEYNPSSQPPASPSTQEAIQGMLS +MANLQASDSCLQTTWGAGQAKGSSLAAHGARKNGGGSGKSAGKRLLKRAAKNSVDLDDYEEEQDHLDACFKDSDYVYPSLESDEDNPIFKSRSKKRKGSD +DAPYSPTARVGPSVPRQDRPVREGTRVASIETGLAAAAAKLSQQEEQKSKKKKSAKRKLTPNTTSPSTSTSISAGTTSTSTTPASTTPASTTPASTTPAS +TSTASSQASQEGSSPEPPPESHSSSLADHEYTAAGTFTGAQAGRTSQPMAPGVFLTQRRPSASSPNNNTAAKGKRTKKGMATAKQRLGKILKIHRNGKLL +L* +>line21645 NM_001348010 WILDTYPE +MRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQPAAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVE +TPEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIVPEKISTSTFQRQAEHKRKSYESALASFQEEIAQEMEPLI +VDTGGLFLKKLTESDEEMNRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSVLKKYAEVIEKTSYLMRPEVYRL +INEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSRHRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLCTI +CDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKKQLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKS +FETLADQTEWQSSHLFKYFQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETLAFHLEKVKDYLKNMKSRYECFH +TLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQNLAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEENDQ +EMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQGEKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEE +EDKEEGLEEIYYEDMESFTISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKHRAWWCVPVIPATQEAEAGESPEPRRR +RLQ* +>line21645 NM_001348010 c.2316_2317insGAGGAG p.E777_K778insEE protein-altering (position 777-778 has insertion EE) +MRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQPAAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVE +TPEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIVPEKISTSTFQRQAEHKRKSYESALASFQEEIAQEMEPLI +VDTGGLFLKKLTESDEEMNRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSVLKKYAEVIEKTSYLMRPEVYRL +INEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSRHRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLCTI +CDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKKQLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKS +FETLADQTEWQSSHLFKYFQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETLAFHLEKVKDYLKNMKSRYECFH +TLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQNLAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEENDQ +EMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQGEKKEESEEEDEKEEEEEEEEEKLEEEKEEKEAQEEQESLSVG +EEEDKEEGLEEIYYEDMESFTISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKHRAWWCVPVIPATQEAEAGESPEPR +RRRLQ* +>line21721 NM_133445 WILDTYPE +MRRLSLWWLLSRVCLLLPPPCALVLAGVPSSSSHPQPCQILKRIGHAVRVGAVHLQPWTTAPRAASRAPDDSRAGAQRDEPEPGTRRSPAPSPGARWLGS +TLHGRGPPGSRKPGEGARAEALWPRDALLFAVDNLNRVEGLLPYNLSLEVVMAIEAGLGDLPLLPFSSPSSPWSSDPFSFLQSVCHTVVVQGVSALLAFP +QSQGEMMELDLVSLVLHIPVISIVRHEFPRESQNPLHLQLSLENSLSSDADVTVSILTMNNWYNFSLLLCQEDWNITDFLLLTQNNSKFHLGSIINITAN +LPSTQDLLSFLQIQLESIKNSTPTVVMFGCDMESIRRIFEITTQFGVMPPELRWVLGDSQNVEELRTEGLPLGLIAHGKTTQSVFEHYVQDAMELVARAV +ATATMIQPELALIPSTMNCMEVETTNLTSGQYLSRFLANTTFRGLSGSIRVKGSTIVSSENNFFIWNLQHDPMGKPMWTRLGSWQGGKIVMDYGIWPEQA +QRHKTHFQHPSKLHLRVVTLIEHPFVFTREVDDEGLCPAGQLCLDPMTNDSSTLDSLFSSLHSSNDTVPIKFKKCCYGYCIDLLEKIAEDMNFDFDLYIV +GDGKYGAWKNGHWTGLVGDLLRGTAHMAVTSFSINTARSQVIDFTSPFFSTSLGILVRTRDTAAPIGAFMWPLHWTMWLGIFVALHITAVFLTLYEWKSP +FGLTPKGRNRSKVFSFSSALNICYALLFGRTVAIKPPKCWTGRFLMNLWAIFCMFCLSTYTANLAAVMVGEKIYEELSGIHDPKLHHPSQGFRFGTVRES +SAEDYVRQSFPEMHEYMRRYNVPATPDGVEYLKNDPEKLDAFIMDKALLDYEVSIDADCKLLTVGKPFAIEGYGIGLPPNSPLTANISELISQYKSHGFM +DMLHDKWYRVVPCGKRSFAVTETLQMGIKHFSGLFVLLCIGFGLSILTTIGEHIVYRLLLPRIKNKSKLQYWLHTSQRLHRAINTSFIEEKQQHFKTKRV +EKRSNVGPRQLTVWNTSNLSHDNRRKYIFSDEEGQNQLGIRIHQDIPLPPRRRELPALRTTNGKADSLNVSRNSVMQELSELEKQIQVIRQELQLAVSRK +TELEEYQRTSRTCES* +>line21721 NM_133445 c.2502_2503CA p.D835N protein-altering (position 835 changed from D to N) +MRRLSLWWLLSRVCLLLPPPCALVLAGVPSSSSHPQPCQILKRIGHAVRVGAVHLQPWTTAPRAASRAPDDSRAGAQRDEPEPGTRRSPAPSPGARWLGS +TLHGRGPPGSRKPGEGARAEALWPRDALLFAVDNLNRVEGLLPYNLSLEVVMAIEAGLGDLPLLPFSSPSSPWSSDPFSFLQSVCHTVVVQGVSALLAFP +QSQGEMMELDLVSLVLHIPVISIVRHEFPRESQNPLHLQLSLENSLSSDADVTVSILTMNNWYNFSLLLCQEDWNITDFLLLTQNNSKFHLGSIINITAN +LPSTQDLLSFLQIQLESIKNSTPTVVMFGCDMESIRRIFEITTQFGVMPPELRWVLGDSQNVEELRTEGLPLGLIAHGKTTQSVFEHYVQDAMELVARAV +ATATMIQPELALIPSTMNCMEVETTNLTSGQYLSRFLANTTFRGLSGSIRVKGSTIVSSENNFFIWNLQHDPMGKPMWTRLGSWQGGKIVMDYGIWPEQA +QRHKTHFQHPSKLHLRVVTLIEHPFVFTREVDDEGLCPAGQLCLDPMTNDSSTLDSLFSSLHSSNDTVPIKFKKCCYGYCIDLLEKIAEDMNFDFDLYIV +GDGKYGAWKNGHWTGLVGDLLRGTAHMAVTSFSINTARSQVIDFTSPFFSTSLGILVRTRDTAAPIGAFMWPLHWTMWLGIFVALHITAVFLTLYEWKSP +FGLTPKGRNRSKVFSFSSALNICYALLFGRTVAIKPPKCWTGRFLMNLWAIFCMFCLSTYTANLAAVMVGEKIYEELSGIHDPKLHHPSQGFRFGTVRES +SAEDYVRQSFPEMHEYMRRYNVPATPDGVEYLKNNPEKLDAFIMDKALLDYEVSIDADCKLLTVGKPFAIEGYGIGLPPNSPLTANISELISQYKSHGFM +DMLHDKWYRVVPCGKRSFAVTETLQMGIKHFSGLFVLLCIGFGLSILTTIGEHIVYRLLLPRIKNKSKLQYWLHTSQRLHRAINTSFIEEKQQHFKTKRV +EKRSNVGPRQLTVWNTSNLSHDNRRKYIFSDEEGQNQLGIRIHQDIPLPPRRRELPALRTTNGKADSLNVSRNSVMQELSELEKQIQVIRQELQLAVSRK +TELEEYQRTSRTCES* +>line21783 NM_014334 WILDTYPE +MRRPRQGGGGAGGSAAARARAGGLGGGSVPARARGAPAAARAAWLRDLCARMARPPRQHPGVWASLLLLLLTGPAACAASPADDGAGPGGRGPRGRARGD +TGADEAVPRHDSSYGTFAGEFYDLRYLSEEGYPFPTAPPVDPFAKIKVDDCGKTKGCFRYGKPGCNAETCDYFLSYRMIGADVEFELSADTDGWVAVGFS +SDKKMGGDDVMACVHDDNGRVRIQHFYNVGQWAKEIQRNPARDEEGVFENNRVTCRFKRPVNVPRDETIVDLHLSWYYLFAWGPAIQGSITRHDIDSPPA +SERVVSIYKYEDIFMPSAAYQTFSSPFCLLLIVALTFYLLMGTP* +>line21783 NM_014334 c.151_152GC p.R51A protein-altering (position 51 changed from R to A) +MRRPRQGGGGAGGSAAARARAGGLGGGSVPARARGAPAAARAAWLRDLCAAMARPPRQHPGVWASLLLLLLTGPAACAASPADDGAGPGGRGPRGRARGD +TGADEAVPRHDSSYGTFAGEFYDLRYLSEEGYPFPTAPPVDPFAKIKVDDCGKTKGCFRYGKPGCNAETCDYFLSYRMIGADVEFELSADTDGWVAVGFS +SDKKMGGDDVMACVHDDNGRVRIQHFYNVGQWAKEIQRNPARDEEGVFENNRVTCRFKRPVNVPRDETIVDLHLSWYYLFAWGPAIQGSITRHDIDSPPA +SERVVSIYKYEDIFMPSAAYQTFSSPFCLLLIVALTFYLLMGTP* +>line21791 NM_001198656 WILDTYPE +MRWPQPGAAARLPPESPGPPESPGPPEREAAAARRWTGAEPQDCAPGSGRPEKPPQLSEDDIWLKSEGDNYSATLLEPAASSLSPDHKNMEIEVSVAECK +SVPGITSTPHPMDHPSAFYSPPHNGLLTDHHESLDNDVAREIRYLDEVLEANCCDSAVDGTYNGTSSPEPGAVVLVGGLSPPVHEATQPEPTERTASRQA +PPHIELSNSSPDPMAEAERTNGHSPSQPRDALGDSLQVPVSPSSTTSSRCSSRDGEFTLTTLKKEAKFELRAFHEDKKPSKLFEDDEHEKEQYCIRKVRP +SEEMLELEKERRELIRSQAVKKNPGIAAKWWNPPQEKTIEEQLDEEHLESHKKYKERKERRAQQEQLLLQKQLQQQQQQPPSQLCTAPASSHERASMIDK +AKEDIVTEQIDFSAARKQFQLMENSRQAVAKGQSTPRLFSIKPFYRPLGSVNSDKPLTNPRPPSVGGPPEDSGASAAKGQKSPGALETPSAAGSQGNTAS +QGKEGPYSEPSKRGPLSKLWAEDGEFTSARAVLTVVKDDDHGILDQFSRSVNVSLTQEELDSGLDELSVRSQDTTVLETLSNDFSMDNISDSGASNETTN +ALQENSLADFSLPQTPQTDNPSEGRGEGVSKSFSDHGFYSPSSTLGDSPLVDDPLEYQAGLLVQNAIQQAIAEQVDKAVSKTSRDGAEQQGPEATVEEAE +AAAFGSEKPQSMFEPPQVSSPVQEKRDVLPKILPAEDRALRERGPPQPLPAVQPSGPINMEETRPEGSYFSKYSEAAELRSTASLLATQESDVMVGPFKL +RSRKQRTLSMIEEEIRAAQEREEELKRQRQVLQSTQSPRTKNAPSLPSRTCYKTAPGKIEKVKPPPSPTTEGPSLQPDLAPEEAAGTQRPKNLMQTLMED +YETHKSKRRERMDDSSYTSKLLSCKVTSEVLEATRVNRRKSALALRWEAGIYANQEEEDNE* +>line21791 NM_001198656 c.1120_1122del p.Q379del protein-altering (position 379 changed from Q to ) +MRWPQPGAAARLPPESPGPPESPGPPEREAAAARRWTGAEPQDCAPGSGRPEKPPQLSEDDIWLKSEGDNYSATLLEPAASSLSPDHKNMEIEVSVAECK +SVPGITSTPHPMDHPSAFYSPPHNGLLTDHHESLDNDVAREIRYLDEVLEANCCDSAVDGTYNGTSSPEPGAVVLVGGLSPPVHEATQPEPTERTASRQA +PPHIELSNSSPDPMAEAERTNGHSPSQPRDALGDSLQVPVSPSSTTSSRCSSRDGEFTLTTLKKEAKFELRAFHEDKKPSKLFEDDEHEKEQYCIRKVRP +SEEMLELEKERRELIRSQAVKKNPGIAAKWWNPPQEKTIEEQLDEEHLESHKKYKERKERRAQQEQLLLQKQLQQQQQPPSQLCTAPASSHERASMIDKA +KEDIVTEQIDFSAARKQFQLMENSRQAVAKGQSTPRLFSIKPFYRPLGSVNSDKPLTNPRPPSVGGPPEDSGASAAKGQKSPGALETPSAAGSQGNTASQ +GKEGPYSEPSKRGPLSKLWAEDGEFTSARAVLTVVKDDDHGILDQFSRSVNVSLTQEELDSGLDELSVRSQDTTVLETLSNDFSMDNISDSGASNETTNA +LQENSLADFSLPQTPQTDNPSEGRGEGVSKSFSDHGFYSPSSTLGDSPLVDDPLEYQAGLLVQNAIQQAIAEQVDKAVSKTSRDGAEQQGPEATVEEAEA +AAFGSEKPQSMFEPPQVSSPVQEKRDVLPKILPAEDRALRERGPPQPLPAVQPSGPINMEETRPEGSYFSKYSEAAELRSTASLLATQESDVMVGPFKLR +SRKQRTLSMIEEEIRAAQEREEELKRQRQVLQSTQSPRTKNAPSLPSRTCYKTAPGKIEKVKPPPSPTTEGPSLQPDLAPEEAAGTQRPKNLMQTLMEDY +ETHKSKRRERMDDSSYTSKLLSCKVTSEVLEATRVNRRKSALALRWEAGIYANQEEEDNE* +>line21794 NM_153366 WILDTYPE +MWPRLAFCCWGLALVSGWATFQQMSPSRNFSFRLFPETAPGAPGSIPAPPAPGDEAAGSRVERLGQAFRRRVRLLRELSERLELVFLVDDSSSVGEVNFR +SELMFVRKLLSDFPVVPTATRVAIVTFSSKNYVVPRVDYISTRRARQHKCALLLQEIPAISYRGGGTYTKGAFQQAAQILLHARENSTKVVFLITDGYSN +GGDPRPIAASLRDSGVEIFTFGIWQGNIRELNDMASTPKEEHCYLLHSFEEFEALARRALHEDLPSGSFIQDDMVHCSYLCDEGKDCCDRMGSCKCGTHT +GHFECICEKGYYGKGLQYECTACPSGTYKPEGSPGGISSCIPCPDENHTSPPGSTSPEDCVCREGYRASGQTCELVHCPALKPPENGYFIQNTCNNHFNA +ACGVRCHPGFDLVGSSIILCLPNGLWSGSESYCRVRTCPHLRQPKHGHISCSTREMLYKTTCLVACDEGYRLEGSDKLTCQGNSQWDGPEPRCVERHCST +FQMPKDVIISPHNCGKQPAKFGTICYVSCRQGFILSGVKEMLRCTTSGKWNVGVQAAVCKDVEAPQINCPKDIEAKTLEQQDSANVTWQIPTAKDNSGEK +VSVHVHPAFTPPYLFPIGDVAIVYTATDLSGNQASCIFHIKVIDAEPPVIDWCRSPPPVQVSEKVHAASWDEPQFSDNSGAELVITRSHTQGDLFPQGET +IVQYTATDPSGNNRTCDIHIVIKGSPCEIPFTPVNGDFICTPDNTGVNCTLTCLEGYDFTEGSTDKYYCAYEDGVWKPTYTTEWPDCAKKRFANHGFKSF +EMFYKAARCDDTDLMKKFSEAFETTLGKMVPSFCSDAEDIDCRLEENLTKKYCLEYNYDYENGFAIGPGGWGAANRLDYSYDDFLDTVQETATSIGNAKS +SRIKRSAPLSDYKIKLIFNITASVPLPDERNDTLEWENQQRLLQTLETITNKLKRTLNKDPMYSFQLASEILIADSNSLETKKASPFCRPGSVLRGRMCV +NCPLGTYYNLEHFTCESCRIGSYQDEEGQLECKLCPSGMYTEYIHSRNISDCKAQCKQGTYSYSGLETCESCPLGTYQPKFGSRSCLSCPENTSTVKRGA +VNISACGVPCPEGKFSRSGLMPCHPCPRDYYQPNAGKAFCLACPFYGTTPFAGSRSITECSSFSSTFSAAEESVVPPASLGHIKKRHEISSQVFHECFFN +PCHNSGTCQQLGRGYVCLCPLGYTGLKCETDIDECSPLPCLNNGVCKDLVGEFICECPSGYTGQRCEENINECSSSPCLNKGICVDGVAGYRCTCVKGFV +GLHCETEVNECQSNPCLNNAVCEDQVGGFLCKCPPGFLGTRCGKNVDECLSQPCKNGATCKDGANSFRCLCAAGFTGSHCELNINECQSNPCRNQATCVD +ELNSYSCKCQPGFSGKRCETEQSTGFNLDFEVSGIYGYVMLDGMLPSLHALTCTFWMKSSDDMNYGTPISYAVDNGSDNTLLLTDYNGWVLYVNGREKIT +NCPSVNDGRWHHIAITWTSANGIWKVYIDGKLSDGGAGLSVGLPIPGGGALVLGQEQDKKGEGFSPAESFVGSISQLNLWDYVLSPQQVKSLATSCPEEL +SKGNVLAWPDFLSGIVGKVKIDSKSIFCSDCPRLGGSVPHLRTASEDLKPGSKVNLFCDPGFQLVGNPVQYCLNQGQWTQPLPHCERISCGVPPPLENGF +HSADDFYAGSTVTYQCNNGYYLLGDSRMFCTDNGSWNGVSPSCLDVDECAVGSDCSEHASCLNVDGSYICSCVPPYTGDGKNCAEPIKCKAPGNPENGHS +SGEIYTVGAEVTFSCQEGYQLMGVTKITCLESGEWNHLIPYCKAVSCGKPAIPENGCIEELAFTFGSKVTYRCNKGYTLAGDKESSCLANSSWSHSPPVC +EPVKCSSPENINNGKYILSGLTYLSTASYSCDTGYSLQGPSIIECTASGIWDRAPPACHLVFCGEPPAIKDAVITGNNFTFRNTVTYTCKEGYTLAGLDT +IECLADGKWSRSDQQCLAVSCDEPPIVDHASPETAHRLFGDIAFYYCSDGYSLADNSQLLCNAQGKWVPPEGQDMPRCIAHFCEKPPSVSYSILESVSKA +KFAAGSVVSFKCMEGFVLNTSAKIECMRGGQWNPSPMSIQCIPVRCGEPPSIMNGYASGSNYSFGAMVAYSCNKGFYIKGEKKSTCEATGQWSSPIPTCH +PVSCGEPPKVENGFLEHTTGRIFESEVRYQCNPGYKSVGSPVFVCQANRHWHSESPLMCVPLDCGKPPPIQNGFMKGENFEVGSKVQFFCNEGYELVGDS +SWTCQKSGKWNKKSNPKCMPAKCPEPPLLENQLVLKELTTEVGVVTFSCKEGHVLQGPSVLKCLPSQQWNDSFPVCKIVLCTPPPLISFGVPIPSSALHF +GSTVKYSCVGGFFLRGNSTTLCQPDGTWSSPLPECVPVECPQPEEIPNGIIDVQGLAYLSTALYTCKPGFELVGNTTTLCGENGHWLGGKPTCKAIECLK +PKEILNGKFSYTDLHYGQTVTYSCNRGFRLEGPSALTCLETGDWDVDAPSCNAIHCDSPQPIENGFVEGADYSYGAIIIYSCFPGFQVAGHAMQTCEESG +WSSSIPTCMPIDCGLPPHIDFGDCTKLKDDQGYFEQEDDMMEVPYVTPHPPYHLGAVAKTWENTKESPATHSSNFLYGTMVSYTCNPGYELLGNPVLICQ +EDGTWNGSAPSCISIECDLPTAPENGFLRFTETSMGSAVQYSCKPGHILAGSDLRLCLENRKWSGASPRCEAISCKKPNPVMNGSIKGSNYTYLSTLYYE +CDPGYVLNGTERRTCQDDKNWDEDEPICIPVDCSSPPVSANGQVRGDEYTFQKEIEYTCNEGFLLEGARSRVCLANGSWSGATPDCVPVRCATPPQLANG +VTEGLDYGFMKEVTFHCHEGYILHGAPKLTCQSDGNWDAEIPLCKPVNCGPPEDLAHGFPNGFSFIHGGHIQYQCFPGYKLHGNSSRRCLSNGSWSGSSP +SCLPCRCSTPVIEYGTVNGTDFDCGKAARIQCFKGFKLLGLSEITCEADGQWSSGFPHCEHTSCGSLPMIPNAFISETSSWKENVITYSCRSGYVIQGSS +DLICTEKGVWSQPYPVCEPLSCGSPPSVANAVATGEAHTYESEVKLRCLEGYTMDTDTDTFTCQKDGRWFPERISCSPKKCPLPENITHILVHGDDFSVN +RQVSVSCAEGYTFEGVNISVCQLDGTWEPPFSDESCSPVSCGKPESPEHGFVVGSKYTFESTIIYQCEPGYELEGNRERVCQENRQWSGGVAICKETRCE +TPLEFLNGKADIENRTTGPNVVYSCNRGYSLEGPSEAHCTENGTWSHPVPLCKPNPCPVPFVIPENALLSEKEFYVDQNVSIKCREGFLLQGHGIITCNP +DETWTQTSAKCEKISCGPPAHVENAIARGVHYQYGDMITYSCYSGYMLEGFLRSVCLENGTWTSPPICRAVCRFPCQNGGICQRPNACSCPEGWMGRLCE +EPICILPCLNGGRCVAPYQCDCPPGWTGSRCHTAVCQSPCLNGGKCVRPNRCHCLSSWTGHNCSRKRRTGF* +>line21794 NM_153366 c.8249_8250TG p.A2750V protein-altering (position 2750 changed from A to V) +MWPRLAFCCWGLALVSGWATFQQMSPSRNFSFRLFPETAPGAPGSIPAPPAPGDEAAGSRVERLGQAFRRRVRLLRELSERLELVFLVDDSSSVGEVNFR +SELMFVRKLLSDFPVVPTATRVAIVTFSSKNYVVPRVDYISTRRARQHKCALLLQEIPAISYRGGGTYTKGAFQQAAQILLHARENSTKVVFLITDGYSN +GGDPRPIAASLRDSGVEIFTFGIWQGNIRELNDMASTPKEEHCYLLHSFEEFEALARRALHEDLPSGSFIQDDMVHCSYLCDEGKDCCDRMGSCKCGTHT +GHFECICEKGYYGKGLQYECTACPSGTYKPEGSPGGISSCIPCPDENHTSPPGSTSPEDCVCREGYRASGQTCELVHCPALKPPENGYFIQNTCNNHFNA +ACGVRCHPGFDLVGSSIILCLPNGLWSGSESYCRVRTCPHLRQPKHGHISCSTREMLYKTTCLVACDEGYRLEGSDKLTCQGNSQWDGPEPRCVERHCST +FQMPKDVIISPHNCGKQPAKFGTICYVSCRQGFILSGVKEMLRCTTSGKWNVGVQAAVCKDVEAPQINCPKDIEAKTLEQQDSANVTWQIPTAKDNSGEK +VSVHVHPAFTPPYLFPIGDVAIVYTATDLSGNQASCIFHIKVIDAEPPVIDWCRSPPPVQVSEKVHAASWDEPQFSDNSGAELVITRSHTQGDLFPQGET +IVQYTATDPSGNNRTCDIHIVIKGSPCEIPFTPVNGDFICTPDNTGVNCTLTCLEGYDFTEGSTDKYYCAYEDGVWKPTYTTEWPDCAKKRFANHGFKSF +EMFYKAARCDDTDLMKKFSEAFETTLGKMVPSFCSDAEDIDCRLEENLTKKYCLEYNYDYENGFAIGPGGWGAANRLDYSYDDFLDTVQETATSIGNAKS +SRIKRSAPLSDYKIKLIFNITASVPLPDERNDTLEWENQQRLLQTLETITNKLKRTLNKDPMYSFQLASEILIADSNSLETKKASPFCRPGSVLRGRMCV +NCPLGTYYNLEHFTCESCRIGSYQDEEGQLECKLCPSGMYTEYIHSRNISDCKAQCKQGTYSYSGLETCESCPLGTYQPKFGSRSCLSCPENTSTVKRGA +VNISACGVPCPEGKFSRSGLMPCHPCPRDYYQPNAGKAFCLACPFYGTTPFAGSRSITECSSFSSTFSAAEESVVPPASLGHIKKRHEISSQVFHECFFN +PCHNSGTCQQLGRGYVCLCPLGYTGLKCETDIDECSPLPCLNNGVCKDLVGEFICECPSGYTGQRCEENINECSSSPCLNKGICVDGVAGYRCTCVKGFV +GLHCETEVNECQSNPCLNNAVCEDQVGGFLCKCPPGFLGTRCGKNVDECLSQPCKNGATCKDGANSFRCLCAAGFTGSHCELNINECQSNPCRNQATCVD +ELNSYSCKCQPGFSGKRCETEQSTGFNLDFEVSGIYGYVMLDGMLPSLHALTCTFWMKSSDDMNYGTPISYAVDNGSDNTLLLTDYNGWVLYVNGREKIT +NCPSVNDGRWHHIAITWTSANGIWKVYIDGKLSDGGAGLSVGLPIPGGGALVLGQEQDKKGEGFSPAESFVGSISQLNLWDYVLSPQQVKSLATSCPEEL +SKGNVLAWPDFLSGIVGKVKIDSKSIFCSDCPRLGGSVPHLRTASEDLKPGSKVNLFCDPGFQLVGNPVQYCLNQGQWTQPLPHCERISCGVPPPLENGF +HSADDFYAGSTVTYQCNNGYYLLGDSRMFCTDNGSWNGVSPSCLDVDECAVGSDCSEHASCLNVDGSYICSCVPPYTGDGKNCAEPIKCKAPGNPENGHS +SGEIYTVGAEVTFSCQEGYQLMGVTKITCLESGEWNHLIPYCKAVSCGKPAIPENGCIEELAFTFGSKVTYRCNKGYTLAGDKESSCLANSSWSHSPPVC +EPVKCSSPENINNGKYILSGLTYLSTASYSCDTGYSLQGPSIIECTASGIWDRAPPACHLVFCGEPPAIKDAVITGNNFTFRNTVTYTCKEGYTLAGLDT +IECLADGKWSRSDQQCLAVSCDEPPIVDHASPETAHRLFGDIAFYYCSDGYSLADNSQLLCNAQGKWVPPEGQDMPRCIAHFCEKPPSVSYSILESVSKA +KFAAGSVVSFKCMEGFVLNTSAKIECMRGGQWNPSPMSIQCIPVRCGEPPSIMNGYASGSNYSFGAMVAYSCNKGFYIKGEKKSTCEATGQWSSPIPTCH +PVSCGEPPKVENGFLEHTTGRIFESEVRYQCNPGYKSVGSPVFVCQANRHWHSESPLMCVPLDCGKPPPIQNGFMKGENFEVGSKVQFFCNEGYELVGDS +SWTCQKSGKWNKKSNPKCMPAKCPEPPLLENQLVLKELTTEVGVVTFSCKEGHVLQGPSVLKCLPSQQWNDSFPVCKIVLCTPPPLISFGVPIPSSALHF +GSTVKYSCVGGFFLRGNSTTLCQPDGTWSSPLPECVPVECPQPEEIPNGIIDVQGLAYLSTALYTCKPGFELVGNTTTLCGENGHWLGGKPTCKAIECLK +PKEILNGKFSYTDLHYGQTVTYSCNRGFRLEGPSALTCLETGDWDVDAPSCNAIHCDSPQPIENGFVEGADYSYGAIIIYSCFPGFQVAGHAMQTCEESG +WSSSIPTCMPIDCGLPPHIDFGDCTKLKDDQGYFEQEDDMMEVPYVTPHPPYHLGAVAKTWENTKESPATHSSNFLYGTMVSYTCNPGYELLGNPVLICQ +EDGTWNGSAPSCISIECDLPTAPENGFLRFTETSMGSAVQYSCKPGHILVGSDLRLCLENRKWSGASPRCEAISCKKPNPVMNGSIKGSNYTYLSTLYYE +CDPGYVLNGTERRTCQDDKNWDEDEPICIPVDCSSPPVSANGQVRGDEYTFQKEIEYTCNEGFLLEGARSRVCLANGSWSGATPDCVPVRCATPPQLANG +VTEGLDYGFMKEVTFHCHEGYILHGAPKLTCQSDGNWDAEIPLCKPVNCGPPEDLAHGFPNGFSFIHGGHIQYQCFPGYKLHGNSSRRCLSNGSWSGSSP +SCLPCRCSTPVIEYGTVNGTDFDCGKAARIQCFKGFKLLGLSEITCEADGQWSSGFPHCEHTSCGSLPMIPNAFISETSSWKENVITYSCRSGYVIQGSS +DLICTEKGVWSQPYPVCEPLSCGSPPSVANAVATGEAHTYESEVKLRCLEGYTMDTDTDTFTCQKDGRWFPERISCSPKKCPLPENITHILVHGDDFSVN +RQVSVSCAEGYTFEGVNISVCQLDGTWEPPFSDESCSPVSCGKPESPEHGFVVGSKYTFESTIIYQCEPGYELEGNRERVCQENRQWSGGVAICKETRCE +TPLEFLNGKADIENRTTGPNVVYSCNRGYSLEGPSEAHCTENGTWSHPVPLCKPNPCPVPFVIPENALLSEKEFYVDQNVSIKCREGFLLQGHGIITCNP +DETWTQTSAKCEKISCGPPAHVENAIARGVHYQYGDMITYSCYSGYMLEGFLRSVCLENGTWTSPPICRAVCRFPCQNGGICQRPNACSCPEGWMGRLCE +EPICILPCLNGGRCVAPYQCDCPPGWTGSRCHTAVCQSPCLNGGKCVRPNRCHCLSSWTGHNCSRKRRTGF* +>line21841 NM_001350649 WILDTYPE +MVRGSVQHCSLLHVLGPRSPMPPGALCTSTETQGADRTYTIRECQYGVYHIVELMRKQTQKGFWLAQGHTACMRQCCNLKPGILSLFLRRFHSAAQAGVR +WCYLNLLQPSPLGSGNPPTLTGVAGDYSSRTWFWLQLQFLFFEFWNSTYKILLKQMTLMLGSEGPHTELINQQDRLATN* +>line21841 NM_001350649 c.510_513del p.N171Sfs*11 protein-altering (position 171-179 changed from NQQDRLATN to SRTDLPPIRPI) +MVRGSVQHCSLLHVLGPRSPMPPGALCTSTETQGADRTYTIRECQYGVYHIVELMRKQTQKGFWLAQGHTACMRQCCNLKPGILSLFLRRFHSAAQAGVR +WCYLNLLQPSPLGSGNPPTLTGVAGDYSSRTWFWLQLQFLFFEFWNSTYKILLKQMTLMLGSEGPHTELISRTDLPPIRPI* +>line22127 NM_007371 WILDTYPE +MSTATTVAPAGIPATPGPVNPPPPEVSNPSKPGRKTNQLQYMQNVVVKTLWKHQFAWPFYQPVDAIKLNLPDYHKIIKNPMDMGTIKKRLENNYYWSASE +CMQDFNTMFTNCYIYNKPTDDIVLMAQALEKIFLQKVAQMPQEEVELLPPAPKGKGRKPAAGAQSAGTQQVAAVSSVSPATPFQSVPPTVSQTPVIAATP +VPTITANVTSVPVPPAAAPPPPATPIVPVVPPTPPVVKKKGVKRKADTTTPTTSAITASRSESPPPLSDPKQAKVVARRESGGRPIKPPKKDLEDGEVPQ +HAGKKGKLSEHLRYCDSILREMLSKKHAAYAWPFYKPVDAEALELHDYHDIIKHPMDLSTVKRKMDGREYPDAQGFAADVRLMFSNCYKYNPPDHEVVAM +ARKLQDVFEMRFAKMPDEPVEAPALPAPAAPMVSKGAESSRSSEESSSDSGSSDSEEERATRLAELQEQLKAVHEQLAALSQAPVNKPKKKKEKKEKEKK +KKDKEKEKEKHKVKAEEEKKAKVAPPAKQAQQKKAPAKKANSTTTAGRQLKKGGKQASASYDSEEEEEGLPMSYDEKRQLSLDINRLPGEKLGRVVHIIQ +SREPSLRDSNPDEIEIDFETLKPTTLRELERYVKSCLQKKQRKPFSASGKKQAAKSKEELAQEKKKELEKRLQDVSGQLSSSKKPARKEKPGSAPSGGPS +RLSSSSSSESGSSSSSGSSSDSSDSE* +>line22127 NM_007371 c.1504_1506del p.K502del protein-altering (position 502 changed from K to ) +MSTATTVAPAGIPATPGPVNPPPPEVSNPSKPGRKTNQLQYMQNVVVKTLWKHQFAWPFYQPVDAIKLNLPDYHKIIKNPMDMGTIKKRLENNYYWSASE +CMQDFNTMFTNCYIYNKPTDDIVLMAQALEKIFLQKVAQMPQEEVELLPPAPKGKGRKPAAGAQSAGTQQVAAVSSVSPATPFQSVPPTVSQTPVIAATP +VPTITANVTSVPVPPAAAPPPPATPIVPVVPPTPPVVKKKGVKRKADTTTPTTSAITASRSESPPPLSDPKQAKVVARRESGGRPIKPPKKDLEDGEVPQ +HAGKKGKLSEHLRYCDSILREMLSKKHAAYAWPFYKPVDAEALELHDYHDIIKHPMDLSTVKRKMDGREYPDAQGFAADVRLMFSNCYKYNPPDHEVVAM +ARKLQDVFEMRFAKMPDEPVEAPALPAPAAPMVSKGAESSRSSEESSSDSGSSDSEEERATRLAELQEQLKAVHEQLAALSQAPVNKPKKKKEKKEKEKK +KDKEKEKEKHKVKAEEEKKAKVAPPAKQAQQKKAPAKKANSTTTAGRQLKKGGKQASASYDSEEEEEGLPMSYDEKRQLSLDINRLPGEKLGRVVHIIQS +REPSLRDSNPDEIEIDFETLKPTTLRELERYVKSCLQKKQRKPFSASGKKQAAKSKEELAQEKKKELEKRLQDVSGQLSSSKKPARKEKPGSAPSGGPSR +LSSSSSSESGSSSSSGSSSDSSDSE* +>line22181 NM_014866 WILDTYPE +MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRQALQSTPLGSSSKSSPPVLQGPAPAGFSQHPGLLVPHTHAR +DSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEPEVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAA +SPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPES +TFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADF +DDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRH +GAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPT +GIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTV +YPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEE +EALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPS +SVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSR +TLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSP +ASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYR +PYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAY +RREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFH +GDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGP +LAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQL +SFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGD +WRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLP +SFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGAL +PQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSG +PGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETK +EPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPS +GTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKVLSSAASLPGSELPSSRPEGSQGGELSRCSSMSSLS +REVSQHFNQAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN* +>line22181 NM_014866 c.179_180CC p.Q60P protein-altering (position 60 changed from Q to P) +MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRPALQSTPLGSSSKSSPPVLQGPAPAGFSQHPGLLVPHTHAR +DSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEPEVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAA +SPSLPQPGLQMPGQWGPVQGGPQPSGQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPES +TFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMFFQGGETENEENLSSEKAGLSGQADF +DDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPDASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRH +GAVCHTGAPDATLHTVHPDSVSSSYSSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPT +GIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVCPLPLNSTTEAVHMLPHAGAPPLDTV +YPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVCAKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEE +EALQSQASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPS +SVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSR +TLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQGQPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSP +ASLVLVDAGQQLPPRPPQSSSVSLVSSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYR +PYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRYHYSARVRDPRTYDRRYWCDAEYDAY +RREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHSEHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFH +GDFAYGTYRSNFSSGPGFPEYGYPADTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGP +LAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPNEANLIDFTNEAVEQVEEEESGEAQL +SFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLASKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGD +WRPHLAMVLSNLNNNMDVESRTMATMGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLP +SFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPTWLVHLQQVERQIKEGAGVWHQDGAL +PQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLLPSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSG +PGLPPGVPPLQERRHLLQEARSPDPGIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETK +EPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPPGAPVNMYSRRAAGTRARYVDVLNPS +GTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAAARGLANPEPAPEPKVLSSAASLPGSELPSSRPEGSQGGELSRCSSMSSLS +REVSQHFNQAPGDLPAAGGPPSGAMPFYNPAQLAQACATSGSSRLGRIGQRKHLVLN* +>line22540 NM_001199938 WILDTYPE +MSRPRNNPQTSSPQDSTKDGSSFHYFQGRFELSGKSRQYPADALEPQPGIGDVKVIEKATKSMLDPAQRSHFYLVTPSLVFLCFIFDGLHKALLSVGVSK +RSNIVIGNENKETGTLYASKFEDVLPTFTALEMSSILRHCCDLIGIAAGSSDPICTNSLQVQRQFKAMMISIGRPLHSESADLLISYNAGPAIDWINSRP +WVGGLMFTFLFGEFESPACELLDQVKVVASKAQMMTYYTVRMFLDQCVDGSTALPAVVLEIPVFEQKKPLAKKVLGDFFEFGGVLRHPVIGVLSPQMFPN +LATAANYWAKRRNSTFSGFEALDIIPGSTITFPVLQMASAQKISRGSDMDPYTLNILRGYGISGFE* +>line22540 NM_001199938 c.428_429insTCT p.L143_I144insL protein-altering (position 143-144 has insertion L) +MSRPRNNPQTSSPQDSTKDGSSFHYFQGRFELSGKSRQYPADALEPQPGIGDVKVIEKATKSMLDPAQRSHFYLVTPSLVFLCFIFDGLHKALLSVGVSK +RSNIVIGNENKETGTLYASKFEDVLPTFTALEMSSILRHCCDLLIGIAAGSSDPICTNSLQVQRQFKAMMISIGRPLHSESADLLISYNAGPAIDWINSR +PWVGGLMFTFLFGEFESPACELLDQVKVVASKAQMMTYYTVRMFLDQCVDGSTALPAVVLEIPVFEQKKPLAKKVLGDFFEFGGVLRHPVIGVLSPQMFP +NLATAANYWAKRRNSTFSGFEALDIIPGSTITFPVLQMASAQKISRGSDMDPYTLNILRGYGISGFE* +>line22599 NM_017433 WILDTYPE +MFPLIGKTIIFDNFPDPSDTWEITETIGKGTYGKVFKVLNKKNGQKAAVKILDPIHDIDEEIEAEYNILKALSDHPNVVRFYGIYFKKDKVNGDKLWLVL +ELCSGGSVTDLVKGFLKRGERMSEPLIAYILHEALMGLQHLHNNKTIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRHRRNTSVGTPFWMAPEVIACE +QQLDTTYDARCDTWSLGITAIELGDGDPPLADLHPMRALFKIPRNPPPKLRQPELWSAEFNDFISKCLTKDYEKRPTVSELLQHKFITQIEGKDVMLQKQ +LTEFIGIHQCMGGTEKARRERIHTKKGNFNRPLISNLKDVDDLATLEILDENTVSEQLEKCYSRDQIYVYVGDILIALNPFQSLGLYSTKHSKLYIGSKR +TASPPHIFAMADLGYQSMITYNSDQCIVISGESGAGKTENAHLLVQQLTVLGKANNRTLQEKILQVNNLVEAFGNACTIINDNSSRFGKYLEMKFTSSGA +VVGAQISEYLLEKSRVIHQAIGEKNFHIFYYIYAGLAEKKKLAHYKLPENKPPRYLQNDHLRTVQDIMNNSFYKSQYELIEQCFKVIGFTMEQLGSIYSI +LAAILNVGNIEFSSVATEHQIDKSHISNHTALENCASLLCIRADELQEALTSHCVVTRGETIIRPNTVEKATDVRDAMAKTLYGRLFSWIVNCINSLLKH +DSSPSGNGDELSIGILDIFGFENFKKNSFEQLCINIANEQIQYYYNQHVFAWEQNEYLNEDVDARVIEYEDNWPLLDMFLQKPMGLLSLLDEESRFPKAT +DQTLVEKFEGNLKSQYFWRPKRMELSFGIHHYAGKVLYNASGFLAKNRDTLPTDIVLLLRSSDNSVIRQLVNHPLTKTGNLPHSKTKNVINYQMRTSEKL +INLAKGDTGEATRHARETTNMKTQTVASYFRYSLMDLLSKMVVGQPHFVRCIKPNSERQARKYDKEKVLLQLRYTGILETARIRRLGFSHRILFANFIKR +YYLLCYKSSEEPRMSPDTCATILEKAGLDNWALGKTKVFLKYYHVEQLNLMRKEAIDKLILIQACVRAFLCSRRYQKIQEKRKESAIIIQSAARGHLVRK +QRKEIVDMKNTAVTTIQTSDQEFDYKKNFENTRESFVKKQAENAISANERFISAPNNKGSVSVVKTSTFKPEEETTNAVESNNRVYQTPKKMNNVYEEEV +KQEFYLVGPEVSPKQKSVKDLEENSNLRKVEKEEAMIQSYYQRYTEERNCEESKAAYLERKAISERPSYPVPWLAENETSFKKTLEPTLSQRSIYQNANS +MEKEKKTSVVTQRAPICSQEEGRGRLRHETVKERQVEPVTQAQEEEDKAAVFIQSKYRGYKRRQQLRKDKMSSFKHQRIVTTPTEVARNTHNLYSYPTKH +EEINNIKKKDNKDSKATSEREACGLAIFSKQISKLSEEYFILQKKLNEMILSQQLKSLYLGVSHHKPINRRVSSQQCLSGVCKGEEPKILRPPRRPRKPK +TLNNPEDSTYYYLLHKSIQEEKRRPRKDSQGKLLDLEDFYYKEFLPSRSGPKEHSPSLRERRPQQELQNQCIKANERCWAAESPEKEEEREPAANPYDFR +RLLRKTSQRRRLVQQS* +>line22599 NM_017433 c.1104_1105TA p.V369I protein-altering (position 369 changed from V to I) +MFPLIGKTIIFDNFPDPSDTWEITETIGKGTYGKVFKVLNKKNGQKAAVKILDPIHDIDEEIEAEYNILKALSDHPNVVRFYGIYFKKDKVNGDKLWLVL +ELCSGGSVTDLVKGFLKRGERMSEPLIAYILHEALMGLQHLHNNKTIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRHRRNTSVGTPFWMAPEVIACE +QQLDTTYDARCDTWSLGITAIELGDGDPPLADLHPMRALFKIPRNPPPKLRQPELWSAEFNDFISKCLTKDYEKRPTVSELLQHKFITQIEGKDVMLQKQ +LTEFIGIHQCMGGTEKARRERIHTKKGNFNRPLISNLKDVDDLATLEILDENTVSEQLEKCYSRDQIYIYVGDILIALNPFQSLGLYSTKHSKLYIGSKR +TASPPHIFAMADLGYQSMITYNSDQCIVISGESGAGKTENAHLLVQQLTVLGKANNRTLQEKILQVNNLVEAFGNACTIINDNSSRFGKYLEMKFTSSGA +VVGAQISEYLLEKSRVIHQAIGEKNFHIFYYIYAGLAEKKKLAHYKLPENKPPRYLQNDHLRTVQDIMNNSFYKSQYELIEQCFKVIGFTMEQLGSIYSI +LAAILNVGNIEFSSVATEHQIDKSHISNHTALENCASLLCIRADELQEALTSHCVVTRGETIIRPNTVEKATDVRDAMAKTLYGRLFSWIVNCINSLLKH +DSSPSGNGDELSIGILDIFGFENFKKNSFEQLCINIANEQIQYYYNQHVFAWEQNEYLNEDVDARVIEYEDNWPLLDMFLQKPMGLLSLLDEESRFPKAT +DQTLVEKFEGNLKSQYFWRPKRMELSFGIHHYAGKVLYNASGFLAKNRDTLPTDIVLLLRSSDNSVIRQLVNHPLTKTGNLPHSKTKNVINYQMRTSEKL +INLAKGDTGEATRHARETTNMKTQTVASYFRYSLMDLLSKMVVGQPHFVRCIKPNSERQARKYDKEKVLLQLRYTGILETARIRRLGFSHRILFANFIKR +YYLLCYKSSEEPRMSPDTCATILEKAGLDNWALGKTKVFLKYYHVEQLNLMRKEAIDKLILIQACVRAFLCSRRYQKIQEKRKESAIIIQSAARGHLVRK +QRKEIVDMKNTAVTTIQTSDQEFDYKKNFENTRESFVKKQAENAISANERFISAPNNKGSVSVVKTSTFKPEEETTNAVESNNRVYQTPKKMNNVYEEEV +KQEFYLVGPEVSPKQKSVKDLEENSNLRKVEKEEAMIQSYYQRYTEERNCEESKAAYLERKAISERPSYPVPWLAENETSFKKTLEPTLSQRSIYQNANS +MEKEKKTSVVTQRAPICSQEEGRGRLRHETVKERQVEPVTQAQEEEDKAAVFIQSKYRGYKRRQQLRKDKMSSFKHQRIVTTPTEVARNTHNLYSYPTKH +EEINNIKKKDNKDSKATSEREACGLAIFSKQISKLSEEYFILQKKLNEMILSQQLKSLYLGVSHHKPINRRVSSQQCLSGVCKGEEPKILRPPRRPRKPK +TLNNPEDSTYYYLLHKSIQEEKRRPRKDSQGKLLDLEDFYYKEFLPSRSGPKEHSPSLRERRPQQELQNQCIKANERCWAAESPEKEEEREPAANPYDFR +RLLRKTSQRRRLVQQS* +>line22956 NM_014696 WILDTYPE +MSSSRPEPGPWAPLSPRLQPLSQSSSSLLGEGREQRPELRKTASSTVWQAQLGEASTRPQAPEEEGNPPESMKPARASGPKARPSAGGHWWSSTVGNVST +MGGSDLCRLRAPSAAAMQRSHSDLVRSTQMRGHSGARKASLSCSALGSSPVHRAQLQPGGTSGQGGQAPAGLERDLAPEDETSNSAWMLGASQLSVPPLD +LGDTTAHSSSAQAEPKAAEQLATTTCHALPPAALLCGMREVRAGGCCHALPATGILAFPKLVASVSESGLQAQHGVKIHCRLSGGLPGHSHCCAHLWGPA +GLVPEPGSRTKDVWTMTSANDLAPAEASPLSAQDAGVQAAPVAACKAVATSPSLEAPAALHVFPEVTLGSSLEEVPSPVRDVRWDAEGMTWEVYGAAVDL +EVLGVAIQKHLEMQFEQLQRAPASEDSLSVEGRRGPLRAVMQSLRRPSCCGCSGAAPE* +>line22956 NM_014696 c.711_712insATGAGGGAG p.E240_V241insMRE protein-altering (position 240-241 has insertion MRE) +MSSSRPEPGPWAPLSPRLQPLSQSSSSLLGEGREQRPELRKTASSTVWQAQLGEASTRPQAPEEEGNPPESMKPARASGPKARPSAGGHWWSSTVGNVST +MGGSDLCRLRAPSAAAMQRSHSDLVRSTQMRGHSGARKASLSCSALGSSPVHRAQLQPGGTSGQGGQAPAGLERDLAPEDETSNSAWMLGASQLSVPPLD +LGDTTAHSSSAQAEPKAAEQLATTTCHALPPAALLCGMREMREVRAGGCCHALPATGILAFPKLVASVSESGLQAQHGVKIHCRLSGGLPGHSHCCAHLW +GPAGLVPEPGSRTKDVWTMTSANDLAPAEASPLSAQDAGVQAAPVAACKAVATSPSLEAPAALHVFPEVTLGSSLEEVPSPVRDVRWDAEGMTWEVYGAA +VDLEVLGVAIQKHLEMQFEQLQRAPASEDSLSVEGRRGPLRAVMQSLRRPSCCGCSGAAPE* +>line23218 NM_001282960 WILDTYPE +MAQFGGQKNPPWATQFTATAVSQPAALGVQQPSLLGASPTIYTQQTALAAAGLTTQTPANYQLTQTAALQQQAAAAAAALQQLQQPQQTLLTQPAVALPT +SLSLSTPQPTAQITVSYPTPRSSQQQTQPQKQRVFTGVVTKLHDTFGFVDEDVFFQLSAVKGKTPQVGDRVLVEATYNPNMPFKWNAQRIQTLPNQNQSQ +TQPLLKTPPAVLQPIAPQTTFGVQTQPQPQSLLQAQISAASITPLLQTQPQPLLQQPQQKAGLLQPPVRIVSQPQPARRLDPPSRFSGRNDRGDQVPNRK +DDRSRERERERRRSRERSPQRKRSRERSPRRERERSPRRVRRVVPRYTVQFSKFSLDCPSCDMMELRRRYQNLYIPSDFFDAQFTWVDAFPLSRPFQLGN +YCNFYVMHREVESLEKNMAILDPPDADHLYSAKVMLMASPSMEDLYHKSCALAEDPQELRDGFQHPARLVKFLVGMKGKDEAMAIGGHWSPSLDGPDPEK +DPSVLIKTAIRCCKALTGIDLSVCTQWYRFAEIRYHRPEETHKGRTVPAHVETVVLFFPDVWHCLPTRSEWETLSRGYKQQLVEKLQGERKEADGEQDEE +EKDDGEAKEISTPTHWSKLDPKTMKVNDLRKELESRALSSKGLKSQLIARLTKQLKVEEQKEEQKELEKSEKEEDEDDDRKSEDDKEEEERKRQEEIERQ +RRERRYILPDEPAIIVHPNWAAKSGKFDCSIMSLSVLLDYRLEDNKEHSFEVSLFAELFNEMLQRDFGVRIYKSLLSLPEKEDKKEKDKKSKKDERKDKK +EERDDETDEPKPKRRKSGDDKDKKEDRDERKKEDKRKDDSKDDDETEEDNNQDEYDPMEAEEAEDEEDDRDEEEMTKRDDKRDINRYCKERPSKDKEKEK +TQMITINRDLLMAFVYFDQSHCGYLLEKDLEEILYTLGLHLSRAQVKKLLNKVVLRESCFYRKLTDTSKDEENHEESESLQEDMLGNRLLLPTPTVKQES +KDVEENVGLIVYNGAMVDVGSLLQKLEKSEKVRAEVEQKLQLLEEKTDEDEKTILNLENSNKSLSGELREVKKDLSQLQENLKISENMNLQFENQMNKTI +RNLSTVMDEIHTVLKKDNVKNEDKDQKSKENGASV* +>line23218 NM_001282960 c.916_917del p.E310Kfs*2 protein-altering (position 310-1135 changed from ERRRSRERSPQRKRSRERSPRRERERSPRRVRRVVPRYTVQFSKFSLDCPSCDMMELRRRYQNLYIPSDFFDAQFTWVDAFPLSRPFQLGNYCNFYVMHREVESLEKNMAILDPPDADHLYSAKVMLMASPSMEDLYHKSCALAEDPQELRDGFQHPARLVKFLVGMKGKDEAMAIGGHWSPSLDGPDPEKDPSVLIKTAIRCCKALTGIDLSVCTQWYRFAEIRYHRPEETHKGRTVPAHVETVVLFFPDVWHCLPTRSEWETLSRGYKQQLVEKLQGERKEADGEQDEEEKDDGEAKEISTPTHWSKLDPKTMKVNDLRKELESRALSSKGLKSQLIARLTKQLKVEEQKEEQKELEKSEKEEDEDDDRKSEDDKEEEERKRQEEIERQRRERRYILPDEPAIIVHPNWAAKSGKFDCSIMSLSVLLDYRLEDNKEHSFEVSLFAELFNEMLQRDFGVRIYKSLLSLPEKEDKKEKDKKSKKDERKDKKEERDDETDEPKPKRRKSGDDKDKKEDRDERKKEDKRKDDSKDDDETEEDNNQDEYDPMEAEEAEDEEDDRDEEEMTKRDDKRDINRYCKERPSKDKEKEKTQMITINRDLLMAFVYFDQSHCGYLLEKDLEEILYTLGLHLSRAQVKKLLNKVVLRESCFYRKLTDTSKDEENHEESESLQEDMLGNRLLLPTPTVKQESKDVEENVGLIVYNGAMVDVGSLLQKLEKSEKVRAEVEQKLQLLEEKTDEDEKTILNLENSNKSLSGELREVKKDLSQLQENLKISENMNLQFENQMNKTIRNLSTVMDEIHTVLKKDNVKNEDKDQKSKENGASV to KT) +MAQFGGQKNPPWATQFTATAVSQPAALGVQQPSLLGASPTIYTQQTALAAAGLTTQTPANYQLTQTAALQQQAAAAAAALQQLQQPQQTLLTQPAVALPT +SLSLSTPQPTAQITVSYPTPRSSQQQTQPQKQRVFTGVVTKLHDTFGFVDEDVFFQLSAVKGKTPQVGDRVLVEATYNPNMPFKWNAQRIQTLPNQNQSQ +TQPLLKTPPAVLQPIAPQTTFGVQTQPQPQSLLQAQISAASITPLLQTQPQPLLQQPQQKAGLLQPPVRIVSQPQPARRLDPPSRFSGRNDRGDQVPNRK +DDRSRERERKT* +>line23334 NM_032772 WILDTYPE +MSTAPSLSALRSSKHSGGGGGGGGGGGADPAWTSALSGNSSGPGPGSSPAGSTKPFVHAVPPSDPLRQANRLPIKVLKMLTARTGHILHPEYLQPLPSTP +VSPIELDAKKSPLALLAQTCSQIGKPDPSPSSKLSSVASNGGGAGGAGGGAAGDKDTKSGPLKLSDIGVEDKSSFKPYSKPGSDKKEPGGGGGGGGGGGG +GGGGVSSEKSGFRVPSATCQPFTPRTGSPSSSASACSPGGMLSSAGGAPEGKDDKKDTDVGGGGKGTGGASAEGGPTGLAHGRISCGGGINVDVNQHPDG +GPGGKALGSDCGGSSGSSSGSGPSAPTSSSVLGSGLVAPVSPYKPGQTVFPLPPAGMTYPGSLAGAYAGYPPQFLPHGVALDPTKPGSLVGAQLAAAAAG +SLGCSKPAGSSPLAGASPPSVMTASLCRDPYCLSYHCASHLAGAAAASASCAHDPAAAAAALKSGYPLVYPTHPLHGVHSSLTAAAAAGATPPSLAGHPL +YPYGFMLPNDPLPHICNWVSANGPCDKRFATSEELLSHLRTHTAFPGTDKLLSGYPSSSSLASAAAAAMACHMHIPTSGAPGSPGTLALRSPHHALGLSS +RYHPYSKSPLPTPGAPVPVPAATGPYYSPYALYGQRLTTASALGYQ* +>line23334 NM_032772 c.77_78insAGGCGGAGGCGG p.G27_A28insGGGG protein-altering (position 27-28 has insertion GGGG) +MSTAPSLSALRSSKHSGGGGGGGGGGGGGGGADPAWTSALSGNSSGPGPGSSPAGSTKPFVHAVPPSDPLRQANRLPIKVLKMLTARTGHILHPEYLQPL +PSTPVSPIELDAKKSPLALLAQTCSQIGKPDPSPSSKLSSVASNGGGAGGAGGGAAGDKDTKSGPLKLSDIGVEDKSSFKPYSKPGSDKKEPGGGGGGGG +GGGGGGGGVSSEKSGFRVPSATCQPFTPRTGSPSSSASACSPGGMLSSAGGAPEGKDDKKDTDVGGGGKGTGGASAEGGPTGLAHGRISCGGGINVDVNQ +HPDGGPGGKALGSDCGGSSGSSSGSGPSAPTSSSVLGSGLVAPVSPYKPGQTVFPLPPAGMTYPGSLAGAYAGYPPQFLPHGVALDPTKPGSLVGAQLAA +AAAGSLGCSKPAGSSPLAGASPPSVMTASLCRDPYCLSYHCASHLAGAAAASASCAHDPAAAAAALKSGYPLVYPTHPLHGVHSSLTAAAAAGATPPSLA +GHPLYPYGFMLPNDPLPHICNWVSANGPCDKRFATSEELLSHLRTHTAFPGTDKLLSGYPSSSSLASAAAAAMACHMHIPTSGAPGSPGTLALRSPHHAL +GLSSRYHPYSKSPLPTPGAPVPVPAATGPYYSPYALYGQRLTTASALGYQ* +>line23369 NM_001270374 WILDTYPE +MRGKPQQRSETLSKKKERKKIEAKNGDPNDCSEFLRGLSSGLRVSLIRTLGPWAPSLSTWWTTITPSCAMGIGLPG* +>line23369 NM_001270374 c.46_49del p.K20fs*0 protein-altering (position 20-76 changed from KIEAKNGDPNDCSEFLRGLSSGLRVSLIRTLGPWAPSLSTWWTTITPSCAMGIGLPG to ) +MRGKPQQRSETLSKKKERK* +>line23407 NM_015045 WILDTYPE +MTSRFGKTYSRKGGNGSSKFDEVFSNKRTTLSTKWGETTFMAKLGQKRPNFKPDIQEIPKKPKVEEESTGDPFGFDSDDESLPVSSKNLAQVKCSSYSES +SEAAQLEEVTSVLEANSKISHVVVEDTVVSDKCFPLEDTLLGKEKSTNRIVEDDASISSCNKLITSDKVENFHEEHEKNSHHIHKNADDSTKKPNAETTV +ASEIKETNDTWNSQFGKRPESPSEISPIKGSVRTGLFEWDNDFEDIRSEDCILSLDSDPLLEMKDDDFKNRLENLNEAIEEDIVQSVLRPTNCRTYCRAN +KTKSSQGASNFDKLMDGTSQALAKANSESSKDGLNQAKKGGVSCGTSFRGTVGRTRDYTVLHPSCLSVCNVTIQDTMERSMDEFTASTPADLGEAGRLRK +KADIATSKTTTRFRPSNTKSKKDVKLEFFGFEDHETGGDEGGSGSSNYKIKYFGFDDLSESEDDEDDDCQVERKTSKKRTKTAPSPSLQPPPESNDNSQD +SQSGTNNAENLDFTEDLPGVPESVKKPINKQGDKSKENTRKIFSGPKRSPTKAVYNARHWNHPDSEELPGPPVVKPQSVTVRLSSKEPNQKDDGVFKAPA +PPSKVIKTVTIPTQPYQDIVTALKCRREDKELYTVVQHVKHFNDVVEFGENQEFTDDIEYLLSGLKSTQPLNTRCLSVISLATKCAMPSFRMHLRAHGMV +AMVFKTLDDSQHHQNLSLCTAALMYILSRDRLNMDLDRASLDLMIRLLELEQDASSAKLLNEKDMNKIKEKIRRLCETVHNKHLDLENITTGHLAMETLL +SLTSKRAGDWFKEELRLLGGLDHIVDKVKECVDHLSRDEDEEKLVASLWGAERCLRVLESVTVHNPENQSYLIAYKDSQLIVSSAKALQHCEELIQQYNR +AEDSICLADSKPLPHQNVTNHVGKAVEDCMRAIIGVLLNLTNDNEWGSTKTGEQDGLIGTALNCVLQVPKYLPQEQRFDIRVLGLGLLINLVEYSARNRH +CLVNMETSCSFDSSICSGEGDDSLRIGGQVHAVQALVQLFLERERAAQLAESKTDELIKDAPTTQHDKSGEWQETSGEIQWVSTEKTDGTEEKHKKEEED +EELDLNKALQHAGKHMEDCIVASYTALLLGCLCQESPINVTTVREYLPEGDFSIMTEMLKKFLSFMNLTCAVGTTGQKSISRVIEYLEHC* +>line23407 NM_015045 c.2304delT p.E770Kfs*16 protein-altering (position 770-1190 changed from EKIRRLCETVHNKHLDLENITTGHLAMETLLSLTSKRAGDWFKEELRLLGGLDHIVDKVKECVDHLSRDEDEEKLVASLWGAERCLRVLESVTVHNPENQSYLIAYKDSQLIVSSAKALQHCEELIQQYNRAEDSICLADSKPLPHQNVTNHVGKAVEDCMRAIIGVLLNLTNDNEWGSTKTGEQDGLIGTALNCVLQVPKYLPQEQRFDIRVLGLGLLINLVEYSARNRHCLVNMETSCSFDSSICSGEGDDSLRIGGQVHAVQALVQLFLERERAAQLAESKTDELIKDAPTTQHDKSGEWQETSGEIQWVSTEKTDGTEEKHKKEEEDEELDLNKALQHAGKHMEDCIVASYTALLLGCLCQESPINVTTVREYLPEGDFSIMTEMLKKFLSFMNLTCAVGTTGQKSISRVIEYLEHC to KKSEGSVKLYTTSILI) +MTSRFGKTYSRKGGNGSSKFDEVFSNKRTTLSTKWGETTFMAKLGQKRPNFKPDIQEIPKKPKVEEESTGDPFGFDSDDESLPVSSKNLAQVKCSSYSES +SEAAQLEEVTSVLEANSKISHVVVEDTVVSDKCFPLEDTLLGKEKSTNRIVEDDASISSCNKLITSDKVENFHEEHEKNSHHIHKNADDSTKKPNAETTV +ASEIKETNDTWNSQFGKRPESPSEISPIKGSVRTGLFEWDNDFEDIRSEDCILSLDSDPLLEMKDDDFKNRLENLNEAIEEDIVQSVLRPTNCRTYCRAN +KTKSSQGASNFDKLMDGTSQALAKANSESSKDGLNQAKKGGVSCGTSFRGTVGRTRDYTVLHPSCLSVCNVTIQDTMERSMDEFTASTPADLGEAGRLRK +KADIATSKTTTRFRPSNTKSKKDVKLEFFGFEDHETGGDEGGSGSSNYKIKYFGFDDLSESEDDEDDDCQVERKTSKKRTKTAPSPSLQPPPESNDNSQD +SQSGTNNAENLDFTEDLPGVPESVKKPINKQGDKSKENTRKIFSGPKRSPTKAVYNARHWNHPDSEELPGPPVVKPQSVTVRLSSKEPNQKDDGVFKAPA +PPSKVIKTVTIPTQPYQDIVTALKCRREDKELYTVVQHVKHFNDVVEFGENQEFTDDIEYLLSGLKSTQPLNTRCLSVISLATKCAMPSFRMHLRAHGMV +AMVFKTLDDSQHHQNLSLCTAALMYILSRDRLNMDLDRASLDLMIRLLELEQDASSAKLLNEKDMNKIKKKSEGSVKLYTTSILI* +>line23454 NM_016195 WILDTYPE +MESNFNQEGVPRPSYVFSADPIARPSEINFDGIKLDLSHEFSLVAPNTEANSFESKDYLQVCLRIRPFTQSEKELESEGCVHILDSQTVVLKEPQCILGR +LSEKSSGQMAQKFSFSKVFGPATTQKEFFQGCIMQPVKDLLKGQSRLIFTYGLTNSGKTYTFQGTEENIGILPRTLNVLFDSLQERLYTKMNLKPHRSRE +YLRLSSEQEKEEIASKSALLRQIKEVTVHNDSDDTLYGSLTNSLNISEFEESIKDYEQANLNMANSIKFSVWVSFFEIYNEYIYDLFVPVSSKFQKRKML +RLSQDVKGYSFIKDLQWIQVSDSKEAYRLLKLGIKHQSVAFTKLNNASSRSHSIFTVKILQIEDSEMSRVIRVSELSLCDLAGSERTMKTQNEGERLRET +GNINTSLLTLGKCINVLKNSEKSKFQQHVPFRESKLTHYFQSFFNGKGKICMIVNISQCYLAYDETLNVLKFSAIAQKVCVPDTLNSSQEKLFGPVKSSQ +DVSLDSNSNSKILNVKRATISWENSLEDLMEDEDLVEELENAEETQNVETKLLDEDLDKTLEENKAFISHEEKRKLLDLIEDLKKKLINEKKEKLTLEFK +IREEVTQEFTQYWAQREADFKETLLQEREILEENAERRLAIFKDLVGKCDTREEAAKDICATKVETEEATACLELKFNQIKAELAKTKGELIKTKEELKK +RENESDSLIQELETSNKKIITQNQRIKELINIIDQKEDTINEFQNLKSHMENTFKCNDKADTSSLIINNKLICNETVEVPKDSKSKICSERKRVNENELQ +QDEPPAKKGSIHVSSAITEDQKKSEEVRPNIAEIEDIRVLQENNEGLRAFLLTIENELKNEKEEKAELNKQIVHFQQELSLSEKKNLTLSKEVQQIQSNY +DIAIAELHVQKSKNQEQEEKIMKLSNEIETATRSITNNVSQIKLMHTKIDELRTLDSVSQISNIDLLNLRDLSNGSEEDNLPNTQLDLLGNDYLVSKQVK +EYRIQEPNRENSFHSSIEAIWEECKEIVKASSKKSHQIEELEQQIEKLQAEVKGYKDENNRLKEKEHKNQDDLLKEKETLIQQLKEELQEKNVTLDVQIQ +HVVEGKRALSELTQGVTCYKAKIKELETILETQKVECSHSAKLEQDILEKESIILKLERNLKEFQEHLQDSVKNTKDLNVKELKLKEEITQLTNNLQDMK +HLLQLKEEEEETNRQETEKLKEELSASSARTQNLKADLQRKEEDYADLKEKLTDAKKQIKQVQKEVSVMRDEDKLLRIKINELEKKKNQCSQELDMKQRT +IQQLKEQLNNQKVEEAIQQYERACKDLNVKEKIIEDMRMTLEEQEQTQVEQDQVLEAKLEEVERLATELEKWKEKCNDLETKNNQRSNKEHENNTDVLGK +LTNLQDELQESEQKYNADRKKWLEEKMMLITQAKEAENIRNKEMKKYAEDRERFFKQQNEMEILTAQLTEKDSDLQKWREERDQLVAALEIQLKALISSN +VQKDNEIEQLKRIISETSKIETQIMDIKPKRISSADPDKLQTEPLSTSFEISRNKIEDGSVVLDSCEVSTENDQSTRFPKPELEIQFTPLQPNKMAVKHP +GCTTPVTVKIPKARKRKSNEMEEDLVKCENKKNATPRTNLKFPISDDRNSSVKKEQKVAIRPSSKKTYSLRSQASIIGVNLATKKKEGTLQKFGDFLQHS +PSILQSKAKKIIETMSSSKLSNVEASKENVSQPKRAKRKLYTSEISSPIDISGQVILMDQKMKESDHQIIKRRLRTKTAK* +>line23454 NM_016195 c.3184_3185insTAAAAG p.K1063_E1064insVK protein-altering (position 1063-1064 has insertion VK) +MESNFNQEGVPRPSYVFSADPIARPSEINFDGIKLDLSHEFSLVAPNTEANSFESKDYLQVCLRIRPFTQSEKELESEGCVHILDSQTVVLKEPQCILGR +LSEKSSGQMAQKFSFSKVFGPATTQKEFFQGCIMQPVKDLLKGQSRLIFTYGLTNSGKTYTFQGTEENIGILPRTLNVLFDSLQERLYTKMNLKPHRSRE +YLRLSSEQEKEEIASKSALLRQIKEVTVHNDSDDTLYGSLTNSLNISEFEESIKDYEQANLNMANSIKFSVWVSFFEIYNEYIYDLFVPVSSKFQKRKML +RLSQDVKGYSFIKDLQWIQVSDSKEAYRLLKLGIKHQSVAFTKLNNASSRSHSIFTVKILQIEDSEMSRVIRVSELSLCDLAGSERTMKTQNEGERLRET +GNINTSLLTLGKCINVLKNSEKSKFQQHVPFRESKLTHYFQSFFNGKGKICMIVNISQCYLAYDETLNVLKFSAIAQKVCVPDTLNSSQEKLFGPVKSSQ +DVSLDSNSNSKILNVKRATISWENSLEDLMEDEDLVEELENAEETQNVETKLLDEDLDKTLEENKAFISHEEKRKLLDLIEDLKKKLINEKKEKLTLEFK +IREEVTQEFTQYWAQREADFKETLLQEREILEENAERRLAIFKDLVGKCDTREEAAKDICATKVETEEATACLELKFNQIKAELAKTKGELIKTKEELKK +RENESDSLIQELETSNKKIITQNQRIKELINIIDQKEDTINEFQNLKSHMENTFKCNDKADTSSLIINNKLICNETVEVPKDSKSKICSERKRVNENELQ +QDEPPAKKGSIHVSSAITEDQKKSEEVRPNIAEIEDIRVLQENNEGLRAFLLTIENELKNEKEEKAELNKQIVHFQQELSLSEKKNLTLSKEVQQIQSNY +DIAIAELHVQKSKNQEQEEKIMKLSNEIETATRSITNNVSQIKLMHTKIDELRTLDSVSQISNIDLLNLRDLSNGSEEDNLPNTQLDLLGNDYLVSKQVK +EYRIQEPNRENSFHSSIEAIWEECKEIVKASSKKSHQIEELEQQIEKLQAEVKGYKDENNRLKVKEKEHKNQDDLLKEKETLIQQLKEELQEKNVTLDVQ +IQHVVEGKRALSELTQGVTCYKAKIKELETILETQKVECSHSAKLEQDILEKESIILKLERNLKEFQEHLQDSVKNTKDLNVKELKLKEEITQLTNNLQD +MKHLLQLKEEEEETNRQETEKLKEELSASSARTQNLKADLQRKEEDYADLKEKLTDAKKQIKQVQKEVSVMRDEDKLLRIKINELEKKKNQCSQELDMKQ +RTIQQLKEQLNNQKVEEAIQQYERACKDLNVKEKIIEDMRMTLEEQEQTQVEQDQVLEAKLEEVERLATELEKWKEKCNDLETKNNQRSNKEHENNTDVL +GKLTNLQDELQESEQKYNADRKKWLEEKMMLITQAKEAENIRNKEMKKYAEDRERFFKQQNEMEILTAQLTEKDSDLQKWREERDQLVAALEIQLKALIS +SNVQKDNEIEQLKRIISETSKIETQIMDIKPKRISSADPDKLQTEPLSTSFEISRNKIEDGSVVLDSCEVSTENDQSTRFPKPELEIQFTPLQPNKMAVK +HPGCTTPVTVKIPKARKRKSNEMEEDLVKCENKKNATPRTNLKFPISDDRNSSVKKEQKVAIRPSSKKTYSLRSQASIIGVNLATKKKEGTLQKFGDFLQ +HSPSILQSKAKKIIETMSSSKLSNVEASKENVSQPKRAKRKLYTSEISSPIDISGQVILMDQKMKESDHQIIKRRLRTKTAK* +>line23752 NM_004419 WILDTYPE +MKVTSLDGRQLRKMLRKEAAARCVVLDCRPYLAFAASNVRGSLNVNLNSVVLRRARGGAVSARYVLPDEAARARLLQEGGGGVAAVVVLDQGSRHWQKLR +EESAARVVLTSLLACLPAGPRVYFLKGGYETFYSEYPECCVDVKPISQEKIESERALISQCGKPVVNVSYRPAYDQGGPVEILPFLYLGSAYHASKCEFL +ANLHITALLNVSRRTSEACATHLHYKWIPVEDSHTADISSHFQEAIDFIDCVREKGGKVLVHCEAGISRSPTICMAYLMKTKQFRLKEAFDYIKQRRSMV +SPNFGFMGQLLQYESEILPSTPNPQPPSCQGEAAGSSLIGHLQTLSPDMQGAYCTFPASVLAPVPTHSTVSELSRSPVATATSC* +>line23752 NM_004419 c.658_659AT p.A220M protein-altering (position 220 changed from A to M) +MKVTSLDGRQLRKMLRKEAAARCVVLDCRPYLAFAASNVRGSLNVNLNSVVLRRARGGAVSARYVLPDEAARARLLQEGGGGVAAVVVLDQGSRHWQKLR +EESAARVVLTSLLACLPAGPRVYFLKGGYETFYSEYPECCVDVKPISQEKIESERALISQCGKPVVNVSYRPAYDQGGPVEILPFLYLGSAYHASKCEFL +ANLHITALLNVSRRTSEACMTHLHYKWIPVEDSHTADISSHFQEAIDFIDCVREKGGKVLVHCEAGISRSPTICMAYLMKTKQFRLKEAFDYIKQRRSMV +SPNFGFMGQLLQYESEILPSTPNPQPPSCQGEAAGSSLIGHLQTLSPDMQGAYCTFPASVLAPVPTHSTVSELSRSPVATATSC* +>line23788 NM_001287824 WILDTYPE +MERYKALEQLLTELDDFLKILDQENLSSTALVKKSCLAELLRLYTKSSSSDEEYIYMNKVTINKQQNAESQGKAPEEQGLLPNGEPSQHSSAPQKSLPDL +PPPKMRILTLGQISGAQSFSPDGTHLTGTEFLGGWSWRPSQIRLMSPGTHWGDLTATEIPERKQLAIPKTESPEGYYEEAEPYDTSLNEDGEAVSSSYES +YDEEDGSKGKSAPYQWPSPEAGIELMRDARICAFLWRKKWLGQWAKQLCVIKDNRLLCYKSSKDHSPQLDVNLLGSSVIHKEKQVRKKEHKLKITPMNAD +VIVLGLQSKDQAEQWLRVIQEVSGLPSEGASEGNQYTPDAQRFNCQKPDIAEKYLSASEYGSSVDGHPEVPETKDVKKKCSAGLKLSNLMNLGRKKSTSL +EPVERSLETSSYLNVLVNSQWKSRWCSVRDNHLHFYQDRNRSKVAQQPLSLVGCEVVPDPSPDHLYSFRILHKGEELAKLEAKSSEEMGHWLGLLLSESG +SKTDPEEFTYDYVDADRVSCIVSAAKNSLLLMQRKFSEPNTYIDGLPSQDRQEELYDDVDLSELTAAVEPTEEATPVADDPNERESDRVYLDLTPVKSFL +HGPSSAQAQASSPTLSCLDNATEALPADSGPGPTPDEPCIKCPENLGEQQLESLEPEDPSLRITTVKIQTEQQRISFPPSCPDAVVATPPGASPPVKDRL +RVTSAEIKLGKNRTEAEVKRYTEEKERLEKKKEEIRGHLAQLRKEKRELKETLLKCTDKEVLASLEQKLKEIDEECRGEESRRVDLELSIMEVKDNLKKA +EAGPVTLGTTVDTTHLENVSPRPKAVTPASAPDCTPVNSATTLKNRPLSVVVTGKGTVLQKAKEWEKKGAS* +>line23788 NM_001287824 c.330_331insCGG p.L110_G111insR protein-altering (position 110-111 has insertion R) +MERYKALEQLLTELDDFLKILDQENLSSTALVKKSCLAELLRLYTKSSSSDEEYIYMNKVTINKQQNAESQGKAPEEQGLLPNGEPSQHSSAPQKSLPDL +PPPKMRILTLRGQISGAQSFSPDGTHLTGTEFLGGWSWRPSQIRLMSPGTHWGDLTATEIPERKQLAIPKTESPEGYYEEAEPYDTSLNEDGEAVSSSYE +SYDEEDGSKGKSAPYQWPSPEAGIELMRDARICAFLWRKKWLGQWAKQLCVIKDNRLLCYKSSKDHSPQLDVNLLGSSVIHKEKQVRKKEHKLKITPMNA +DVIVLGLQSKDQAEQWLRVIQEVSGLPSEGASEGNQYTPDAQRFNCQKPDIAEKYLSASEYGSSVDGHPEVPETKDVKKKCSAGLKLSNLMNLGRKKSTS +LEPVERSLETSSYLNVLVNSQWKSRWCSVRDNHLHFYQDRNRSKVAQQPLSLVGCEVVPDPSPDHLYSFRILHKGEELAKLEAKSSEEMGHWLGLLLSES +GSKTDPEEFTYDYVDADRVSCIVSAAKNSLLLMQRKFSEPNTYIDGLPSQDRQEELYDDVDLSELTAAVEPTEEATPVADDPNERESDRVYLDLTPVKSF +LHGPSSAQAQASSPTLSCLDNATEALPADSGPGPTPDEPCIKCPENLGEQQLESLEPEDPSLRITTVKIQTEQQRISFPPSCPDAVVATPPGASPPVKDR +LRVTSAEIKLGKNRTEAEVKRYTEEKERLEKKKEEIRGHLAQLRKEKRELKETLLKCTDKEVLASLEQKLKEIDEECRGEESRRVDLELSIMEVKDNLKK +AEAGPVTLGTTVDTTHLENVSPRPKAVTPASAPDCTPVNSATTLKNRPLSVVVTGKGTVLQKAKEWEKKGAS* +>line23799 NM_001276282 WILDTYPE +METGGRARTGTPQPAAPGVWRARPAGGGGGGASSWLLDGNSWLLCYGFLYLALYAQVSQSKPCERTGSCFSGRCVNSTCLCDPGWVGDQCQHCQGRFKLT +EPSGYLTDGPINYKYKTKCTWLIEGYPNAVLRLRFNHFATECSWDHMYVYDGDSIYAPLIAVLSGLIVPEIRGNETVPEVVTTSGYALLHFFSDAAYNLT +GFNIFYSINSCPNNCSGHGKCTTSVSVPSQVYCECDKYWKGEACDIPYCKANCGSPDHGYCDLTGEKLCVCNDSWQGPDCSLNVPSTESYWILPNVKPFS +PSVGRASHKAVLHGKFMWVIGGYTFNYSSFQMVLNYNLESSIWNVGTPSRGPLQRYGHSLALYQENIFMYGGRIETNDGNVTDELWVFNIHSQSWSTKTP +TVLGHGQQYAVEGHSAHIMELDSRDVVMIIIFGYSAIYGYTSSIQEYHICELLKNCNFFIDWECFSL +>line23799 NM_001276282 c.1399_1400insTT p.L467_468ins* protein-altering (position 467-468 has insertion *) +METGGRARTGTPQPAAPGVWRARPAGGGGGGASSWLLDGNSWLLCYGFLYLALYAQVSQSKPCERTGSCFSGRCVNSTCLCDPGWVGDQCQHCQGRFKLT +EPSGYLTDGPINYKYKTKCTWLIEGYPNAVLRLRFNHFATECSWDHMYVYDGDSIYAPLIAVLSGLIVPEIRGNETVPEVVTTSGYALLHFFSDAAYNLT +GFNIFYSINSCPNNCSGHGKCTTSVSVPSQVYCECDKYWKGEACDIPYCKANCGSPDHGYCDLTGEKLCVCNDSWQGPDCSLNVPSTESYWILPNVKPFS +PSVGRASHKAVLHGKFMWVIGGYTFNYSSFQMVLNYNLESSIWNVGTPSRGPLQRYGHSLALYQENIFMYGGRIETNDGNVTDELWVFNIHSQSWSTKTP +TVLGHGQQYAVEGHSAHIMELDSRDVVMIIIFGYSAIYGYTSSIQEYHICELLKNCNFFIDWECFSL* +>line23926 NM_005519 WILDTYPE +MGSKEDAGKGCPAAGGVSSFTIQSILGGGPSEAPREPVGWPARKRSLSVSSEEEEPDDGWKAPACFCPDQHGPKEQGPKHHPPIPFPCLGTPKGSGGSGP +GGLERTPFLSPSHSDFKEEKERLLPAGSPSPGSERPRDGGAERQAGAAKKKTRTVFSRSQVYQLESTFDMKRYLSSSERACLASSLQLTETQVKTWFQNR +RNKWKRQLSAELEAANMAHASAQTLVSMPLVFRDSSLLRVPVPRSLAFPAPLYYPGSNLSALPLYNLYNKLDY* +>line23926 NM_005519 c.153_155del p.E55del protein-altering (position 55 changed from E to ) +MGSKEDAGKGCPAAGGVSSFTIQSILGGGPSEAPREPVGWPARKRSLSVSSEEEPDDGWKAPACFCPDQHGPKEQGPKHHPPIPFPCLGTPKGSGGSGPG +GLERTPFLSPSHSDFKEEKERLLPAGSPSPGSERPRDGGAERQAGAAKKKTRTVFSRSQVYQLESTFDMKRYLSSSERACLASSLQLTETQVKTWFQNRR +NKWKRQLSAELEAANMAHASAQTLVSMPLVFRDSSLLRVPVPRSLAFPAPLYYPGSNLSALPLYNLYNKLDY* +>line23994 NM_001145966 WILDTYPE +MWPTRRLVTIKRSGVDGPHFPLSLSTCLFGRGIECDIRIQLPVVSKQHCKIEIHEQEAILHNFSSTNPTQVNGSVIDEPVRLKHGDVITIIDRSFRYENE +SLQNGRKSTEFPRKIREQEPARRVSRSSFSSDPDESEGIPLKRRRVSFGGHLRPELFDENLPPNTPLKRGEAPTKRKSLVMHTPPVLKKIIKEQPQPSGK +QESGSEIHVEVKAQSLVISPPAPSPRKTPVASDQRRRSCKTAPASSSKSQTEVPKRGGRKSGNLPSKRVSISRSQHDILQMICSKRRSGASEANLIVAKS +WADVVKLGAKQTQTKVIKHGPQRSMNKRQRRPATPKKPVGEVHSQFSTGHANSPCTIIIGKAHTEKVHVPARPYRVLNNFISNQKMDFKEDLSGIAEMFK +TPVKEQPQLTSTCHIAISNSENLLGKQFQGTDSGEEPLLPTSESFGGNVFFSAQNAAKQPSDKCSASPPLRRQCIRENGNVAKTPRNTYKMTSLETKTSD +TETEPSKTVSTANRSGRSTEFRNIQKLPVESKSEETNTEIVECILKRGQKATLLQQRREGEMKEIERPFETYKENIELKENDEKMKAMKRSRTWGQKCAP +MSDLTDLKSLPDTELMKDTARGQNLLQTQDHAKAPKSEKGKITKMPCQSLQPEPINTPTHTKQQLKASLGKVGVKEELLAVGKFTRTSGETTHTHREPAG +DGKSIRTFKESPKQILDPAARVTGMKKWPRTPKEEAQSLEDLAGFKELFQTPGPSEESMTDEKTTKIACKSPPPESVDTPTSTKQWPKRSLRKADVEEEF +LALRKLTPSAGKAMLTPKPAGGDEKDIKAFMGTPVQKLDLAGTLPGSKRQLQTPKEKAQALEDLAGFKELFQTPGHTEELVAAGKTTKIPCDSPQSDPVD +TPTSTKQRPKRSIRKADVEGELLACRNLMPSAGKAMHTPKPSVGEEKDIIIFVGTPVQKLDLTENLTGSKRRPQTPKEEAQALEDLTGFKELFQTPGHTE +EAVAAGKTTKMPCESSPPESADTPTSTRRQPKTPLEKRDVQKELSALKKLTQTSGETTHTDKVPGGEDKSINAFRETAKQKLDPAASVTGSKRHPKTKEK +AQPLEDLAGLKELFQTPVCTDKPTTHEKTTKIACRSQPDPVDTPTSSKPQSKRSLRKVDVEEEFFALRKRTPSAGKAMHTPKPAVSGEKNIYAFMGTPVQ +KLDLTENLTGSKRRLQTPKEKAQALEDLAGFKELFQTRGHTEESMTNDKTAKVACKSSQPDPDKNPASSKRRLKTSLGKVGVKEELLAVGKLTQTSGETT +HTHTEPTGDGKSMKAFMESPKQILDSAASLTGSKRQLRTPKGKSEVPEDLAGFIELFQTPSHTKESMTNEKTTKVSYRASQPDLVDTPTSSKPQPKRSLR +KADTEEEFLAFRKQTPSAGKAMHTPKPAVGEEKDINTFLGTPVQKLDQPGNLPGSNRRLQTRKEKAQALEELTGFRELFQTPCTDNPTTDEKTTKKILCK +SPQSDPADTPTNTKQRPKRSLKKADVEEEFLAFRKLTPSAGKAMHTPKAAVGEEKDINTFVGTPVEKLDLLGNLPGSKRRPQTPKEKAKALEDLAGFKEL +FQTPGHTEESMTDDKITEVSCKSPQPDPVKTPTSSKQRLKISLGKVGVKEEVLPVGKLTQTSGKTTQTHRETAGDGKSIKAFKESAKQMLDPANYGTGME +RWPRTPKEEAQSLEDLAGFKELFQTPDHTEESTTDDKTTKIACKSPPPESMDTPTSTRRRPKTPLGKRDIVEELSALKQLTQTTHTDKVPGDEDKGINVF +RETAKQKLDPAASVTGSKRQPRTPKGKAQPLEDLAGLKELFQTPICTDKPTTHEKTTKIACRSPQPDPVGTPTIFKPQSKRSLRKADVEEESLALRKRTP +SVGKAMDTPKPAGGDEKDMKAFMGTPVQKLDLPGNLPGSKRWPQTPKEKAQALEDLAGFKELFQTPGTDKPTTDEKTTKIACKSPQPDPVDTPASTKQRP +KRNLRKADVEEEFLALRKRTPSAGKAMDTPKPAVSDEKNINTFVETPVQKLDLLGNLPGSKRQPQTPKEKAEALEDLVGFKELFQTPGHTEESMTDDKIT +EVSCKSPQPESFKTSRSSKQRLKIPLVKVDMKEEPLAVSKLTRTSGETTQTHTEPTGDSKSIKAFKESPKQILDPAASVTGSRRQLRTRKEKARALEDLV +DFKELFSAPGHTEESMTIDKNTKIPCKSPPPELTDTATSTKRCPKTRPRKEVKEELSAVERLTQTSGQSTHTHKEPASGDEGIKVLKQRAKKKPNPVEEE +PSRRRPRAPKEKAQPLEDLAGFTELSETSGHTQESLTAGKATKIPCESPPLEVVDTTASTKRHLRTRVQKVQVKEEPSAVKFTQTSGETTDADKEPAGED +KGIKALKESAKQTPAPAASVTGSRRRPRAPRESAQAIEDLAGFKDPAAGHTEESMTDDKTTKIPCKSSPELEDTATSSKRRPRTRAQKVEVKEELLAVGK +LTQTSGETTHTDKEPVGEGKGTKAFKQPAKRKLDAEDVIGSRRQPRAPKEKAQPLEDLASFQELSQTPGHTEELANGAADSFTSAPKQTPDSGKPLKISR +RVLRAPKVEPVGDVVSTRDPVKSQSKSNTSLPPLPFKRGGGKDGSVTGTKRLRCMPAPEEIVEELPASKKQRVAPRARGKSSEPVVIMKRSLRTSAKRIE +PAEELNSNDMKTNKEEHKLQDSVPENKGISLRSRRQNKTEAEQQITEVFVLAERIEINRNEKKPMKTSPEMDIQNPDDGARKPIPRDKVTENKRCLRSAR +QNESSQPKVAEESGGQKSAKVLMQNQKGKGEAGNSDSMCLRSRKTKSQPAASTLESKSVQRVTRSVKRCAENPKKAEDNVCVKKIRTRSHRDSEDI* +>line23994 NM_001145966 c.6819_6820del p.H2273Qfs*6 protein-altering (position 2273-2896 changed from HKEPASGDEGIKVLKQRAKKKPNPVEEEPSRRRPRAPKEKAQPLEDLAGFTELSETSGHTQESLTAGKATKIPCESPPLEVVDTTASTKRHLRTRVQKVQVKEEPSAVKFTQTSGETTDADKEPAGEDKGIKALKESAKQTPAPAASVTGSRRRPRAPRESAQAIEDLAGFKDPAAGHTEESMTDDKTTKIPCKSSPELEDTATSSKRRPRTRAQKVEVKEELLAVGKLTQTSGETTHTDKEPVGEGKGTKAFKQPAKRKLDAEDVIGSRRQPRAPKEKAQPLEDLASFQELSQTPGHTEELANGAADSFTSAPKQTPDSGKPLKISRRVLRAPKVEPVGDVVSTRDPVKSQSKSNTSLPPLPFKRGGGKDGSVTGTKRLRCMPAPEEIVEELPASKKQRVAPRARGKSSEPVVIMKRSLRTSAKRIEPAEELNSNDMKTNKEEHKLQDSVPENKGISLRSRRQNKTEAEQQITEVFVLAERIEINRNEKKPMKTSPEMDIQNPDDGARKPIPRDKVTENKRCLRSARQNESSQPKVAEESGGQKSAKVLMQNQKGKGEAGNSDSMCLRSRKTKSQPAASTLESKSVQRVTRSVKRCAENPKKAEDNVCVKKIRTRSHRDSEDI to QRTSKR) +MWPTRRLVTIKRSGVDGPHFPLSLSTCLFGRGIECDIRIQLPVVSKQHCKIEIHEQEAILHNFSSTNPTQVNGSVIDEPVRLKHGDVITIIDRSFRYENE +SLQNGRKSTEFPRKIREQEPARRVSRSSFSSDPDESEGIPLKRRRVSFGGHLRPELFDENLPPNTPLKRGEAPTKRKSLVMHTPPVLKKIIKEQPQPSGK +QESGSEIHVEVKAQSLVISPPAPSPRKTPVASDQRRRSCKTAPASSSKSQTEVPKRGGRKSGNLPSKRVSISRSQHDILQMICSKRRSGASEANLIVAKS +WADVVKLGAKQTQTKVIKHGPQRSMNKRQRRPATPKKPVGEVHSQFSTGHANSPCTIIIGKAHTEKVHVPARPYRVLNNFISNQKMDFKEDLSGIAEMFK +TPVKEQPQLTSTCHIAISNSENLLGKQFQGTDSGEEPLLPTSESFGGNVFFSAQNAAKQPSDKCSASPPLRRQCIRENGNVAKTPRNTYKMTSLETKTSD +TETEPSKTVSTANRSGRSTEFRNIQKLPVESKSEETNTEIVECILKRGQKATLLQQRREGEMKEIERPFETYKENIELKENDEKMKAMKRSRTWGQKCAP +MSDLTDLKSLPDTELMKDTARGQNLLQTQDHAKAPKSEKGKITKMPCQSLQPEPINTPTHTKQQLKASLGKVGVKEELLAVGKFTRTSGETTHTHREPAG +DGKSIRTFKESPKQILDPAARVTGMKKWPRTPKEEAQSLEDLAGFKELFQTPGPSEESMTDEKTTKIACKSPPPESVDTPTSTKQWPKRSLRKADVEEEF +LALRKLTPSAGKAMLTPKPAGGDEKDIKAFMGTPVQKLDLAGTLPGSKRQLQTPKEKAQALEDLAGFKELFQTPGHTEELVAAGKTTKIPCDSPQSDPVD +TPTSTKQRPKRSIRKADVEGELLACRNLMPSAGKAMHTPKPSVGEEKDIIIFVGTPVQKLDLTENLTGSKRRPQTPKEEAQALEDLTGFKELFQTPGHTE +EAVAAGKTTKMPCESSPPESADTPTSTRRQPKTPLEKRDVQKELSALKKLTQTSGETTHTDKVPGGEDKSINAFRETAKQKLDPAASVTGSKRHPKTKEK +AQPLEDLAGLKELFQTPVCTDKPTTHEKTTKIACRSQPDPVDTPTSSKPQSKRSLRKVDVEEEFFALRKRTPSAGKAMHTPKPAVSGEKNIYAFMGTPVQ +KLDLTENLTGSKRRLQTPKEKAQALEDLAGFKELFQTRGHTEESMTNDKTAKVACKSSQPDPDKNPASSKRRLKTSLGKVGVKEELLAVGKLTQTSGETT +HTHTEPTGDGKSMKAFMESPKQILDSAASLTGSKRQLRTPKGKSEVPEDLAGFIELFQTPSHTKESMTNEKTTKVSYRASQPDLVDTPTSSKPQPKRSLR +KADTEEEFLAFRKQTPSAGKAMHTPKPAVGEEKDINTFLGTPVQKLDQPGNLPGSNRRLQTRKEKAQALEELTGFRELFQTPCTDNPTTDEKTTKKILCK +SPQSDPADTPTNTKQRPKRSLKKADVEEEFLAFRKLTPSAGKAMHTPKAAVGEEKDINTFVGTPVEKLDLLGNLPGSKRRPQTPKEKAKALEDLAGFKEL +FQTPGHTEESMTDDKITEVSCKSPQPDPVKTPTSSKQRLKISLGKVGVKEEVLPVGKLTQTSGKTTQTHRETAGDGKSIKAFKESAKQMLDPANYGTGME +RWPRTPKEEAQSLEDLAGFKELFQTPDHTEESTTDDKTTKIACKSPPPESMDTPTSTRRRPKTPLGKRDIVEELSALKQLTQTTHTDKVPGDEDKGINVF +RETAKQKLDPAASVTGSKRQPRTPKGKAQPLEDLAGLKELFQTPICTDKPTTHEKTTKIACRSPQPDPVGTPTIFKPQSKRSLRKADVEEESLALRKRTP +SVGKAMDTPKPAGGDEKDMKAFMGTPVQKLDLPGNLPGSKRWPQTPKEKAQALEDLAGFKELFQTPGTDKPTTDEKTTKIACKSPQPDPVDTPASTKQRP +KRNLRKADVEEEFLALRKRTPSAGKAMDTPKPAVSDEKNINTFVETPVQKLDLLGNLPGSKRQPQTPKEKAEALEDLVGFKELFQTPGHTEESMTDDKIT +EVSCKSPQPESFKTSRSSKQRLKIPLVKVDMKEEPLAVSKLTRTSGETTQTHTEPTGDSKSIKAFKESPKQILDPAASVTGSRRQLRTRKEKARALEDLV +DFKELFSAPGHTEESMTIDKNTKIPCKSPPPELTDTATSTKRCPKTRPRKEVKEELSAVERLTQTSGQSTHTQRTSKR* +>line24078 NM_021932 WILDTYPE +MEPRAVAEAVETGEEDVIMEALRSYNQEHSQSFTFDDAQQEDRKRLAELLVSVLEQGLPPSHRVIWLQSVRILSRDRNCLDPFTSRQSLQALACYADISV +SEGSVPESADMDVVLESLKCLCNLVLSSPVAQMLAAEARLVVKLTERVGLYRERSFPHDVQFFDLRLLFLLTALRTDVRQQLFQELKGVRLLTDTLELTL +GVTPEGNPPPTLLPSQETERAMEILKVLFNITLDSIKGEVDEEDAALYRHLGTLLRHCVMIATAGDRTEEFHGHAVNLLGNLPLKCLDVLLTLEPHGDST +EFMGVNMDVIRALLIFLEKRLHKTHRLKESVAPVLSVLTECARMHRPARKFLKAQGWPPPQVLPPLRDVRTRPEVGEMLRNKLVRLMTHLDTDVKRVAAE +FLFVLCSESVPRFIKYTGYGNAAGLLAARGLMAGGRPEGQYSEDEDTDTDEYKEAKASINPVTGRVEEKPPNPMEGMTEEQKEHEAMKLVTMFDKLSRNR +VIQPMGMSPRGHLTSLQDAMCETMEQQLSSDPDSDPD* +>line24078 NM_021932 c.621_623del p.P210del protein-altering (position 210 changed from P to ) +MEPRAVAEAVETGEEDVIMEALRSYNQEHSQSFTFDDAQQEDRKRLAELLVSVLEQGLPPSHRVIWLQSVRILSRDRNCLDPFTSRQSLQALACYADISV +SEGSVPESADMDVVLESLKCLCNLVLSSPVAQMLAAEARLVVKLTERVGLYRERSFPHDVQFFDLRLLFLLTALRTDVRQQLFQELKGVRLLTDTLELTL +GVTPEGNPPTLLPSQETERAMEILKVLFNITLDSIKGEVDEEDAALYRHLGTLLRHCVMIATAGDRTEEFHGHAVNLLGNLPLKCLDVLLTLEPHGDSTE +FMGVNMDVIRALLIFLEKRLHKTHRLKESVAPVLSVLTECARMHRPARKFLKAQGWPPPQVLPPLRDVRTRPEVGEMLRNKLVRLMTHLDTDVKRVAAEF +LFVLCSESVPRFIKYTGYGNAAGLLAARGLMAGGRPEGQYSEDEDTDTDEYKEAKASINPVTGRVEEKPPNPMEGMTEEQKEHEAMKLVTMFDKLSRNRV +IQPMGMSPRGHLTSLQDAMCETMEQQLSSDPDSDPD* +>line24142 NM_005961 WILDTYPE +MVQRWLLLSCCGALLSAGLANTSYTSPGLQRLKDSPQTAPDKGQCSTWGAGHFSTFDHHVYDFSGTCNYIFAATCKDAFPTFSVQLRRGPDGSISRIIVE +LGASVVTVSEAIISVKDIGVISLPYTSNGLQITPFGQSVRLVAKQLELELEVVWGPDSHLMVLVERKYMGQMCGLCGNFDGKVTNEFVSEEGKFLEPHKF +AALQKLDDPGEICTFQDIPSTHVRQAQHARICTQLLTLVAPECSVSKEPFVLSCQADVAAAPQPGPQNSSCATLSEYSRQCSMVGQPVRRWRSPGLCSVG +QCPANQVYQECGSACVKTCSNPQHSCSSSCTFGCFCPEGTVLNDLSNNHTCVPVTQCPCVLHGAMYAPGEVTIAACQTCRCTLGRWVCTERPCPGHCSLE +GGSFVTTFDARPYRFHGTCTYILLQSPQLPEDGALMAVYDKSGVSHSETSLVAVVYLSRQDKIVISQDEVVTNNGEAKWLPYKTRNITVFRQTSTHLQMA +TSFGLELVVQLRPIFQAYVTVGPQFRGQTRGLCGNFNGDTTDDFTTSMGIAEGTASLFVDSWRAGNCPAALERETDPCSMSQLNKVCAETHCSMLLRTGT +VFERCHATVNPAPFYKRCVYQACNYEETFPHICAALGDYVHACSLRGVLLWGWRSSVDNCTIPCTGNTTFSYNSQACERTCLSLSDRATECHHSAVPVDG +CNCPDGTYLNQKGECVRKAQCPCILEGYKFILAEQSTVINGITCHCINGRLSCPQRPQMFLASCQAPKTFKSCSQSSENKFGAACAPTCQMLATGVACVP +TKCEPGCVCAEGLYENADGQCVPPEECPCEFSGVSYPGGAELHTDCRTCSCSRGRWACQQGTHCPSTCTLYGEGHVITFDGQRFVFDGNCEYILATDVCG +VNDSQPTFKILTENVICGNSGVTCSRAIKIFLGGLSVVLADRNYTVTGEEPHVQLGVTPGALSLVVDISIPGRYNLTLIWNRHMTILIRIARASQDPLCG +LCGNFNGNMKDDFETRSRYVASSELELVNSWKESPLCGDVSFVTDPCSLNAFRRSWAERKCSVINSQTFATCHSKVYHLPYYEACVRDACGCDSGGDCEC +LCDAVAAYAQACLDKGVCVDWRTPAFCPIYCGFYNTHTQDGHGEYQYTQEANCTWHYQPCLCPSQPQSVPGSNIEGCYNCSQDEYFDHEEGVCVPCMPPT +TPQPPTTPQLPTTGSRPTQVWPMTGTSTTIGLLSSTGPSPSSNHTPASPTQTPLLPATLTSSKPTASSGEPPRPTTAVTPQATSGLPPTATLRSTATKPT +VTQATTRATASTASPATTSTAQSTTRTTMTLPTPATSGTSPTLPKSTNQELPGTTATQTTGPRPTPASTTGPTTPQPGQPTRPTATETTQTRTTTEYTTP +QTPHTTHSPPTAGSPVPSTGPVTATSFHATTTYPTPSHPETTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASNHSAPTGTIPPPTTLKATGSTHTAP +PITPTTSGTSQAHSSFSTNKTPTSLHSHTSSTHHPEVTPTSTTTITPNPTSTRTRTPVAHTNSATSSRPPPPFTTHSPPTGSSPFSSTGPMTATSFKTTT +TYPTPSHPQTTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASIHSMPTGTIPPPTTLKATGSTHTAPTMTLTTSGTSQALSSLNTAKTSTSLHSHTSS +THHAEATSTSTTNITPNPTSTGTPPMTVTTSGTSQSRSSFSTAKTSTSLHSHTSSTHHPEVTSTSTTSITPNHTSTGTRTPVAHTTSATSSRLPTPFTTH +SPPTGTTPISSTGPVTATSFQTTTTYPTPSHPHTTLPTHVPSFSTSLVTPSTHTVIIPTHTQMATSASIHSMPTGTIPPPTTIKATGSTHTAPPMTPTTS +GTSQSPSSFSTAKTSTSLPYHTSSTHHPEVTPTSTTNITPKHTSTGTRTPVAHTTSASSSRLPTPFTTHSPPTGSSPFSSTGPMTATSFQTTTTYPTPSH +PQTTLPTHVPPFSTSLVTPSTHTVIITTHTQMATSASIHSTPTGTVPPPTTLKATGSTHTAPPMTVTTSGTSQTHSSFSTATASSSFISSSSWLPQNSSS +RPPSSPITTQLPHLSSATTPVSTTNQLSSSFSPSPSAPSTVSSYVPSSHSSPQTSSPSVGTSSSFVSAPVHSTTLSSGSHSSLSTHPTTASVSASPLFPS +SPAASTTIRATLPHTISSPFTLSALLPISTVTVSPTPSSHLASSTIAFPSTPRTTASTHTAPAFSSQSTTSRSTSLTTRVPTSGFVSLTSGVTGIPTSPV +TNLTTRHPGPTLSPTTRFLTSSLTAHGSTPASAPVSSLGTPTPTSPGVCSVREQQEEITFKGCMANVTVTRCEGACISAASFNIITQQVDARCSCCRPLH +SYEQQLELPCPDPSTPGRRLVLTLQVFSHCVCSSVACGD* +>line24142 NM_005961 c.5931_5932TG p.F1978V protein-altering (position 1978 changed from F to V) +MVQRWLLLSCCGALLSAGLANTSYTSPGLQRLKDSPQTAPDKGQCSTWGAGHFSTFDHHVYDFSGTCNYIFAATCKDAFPTFSVQLRRGPDGSISRIIVE +LGASVVTVSEAIISVKDIGVISLPYTSNGLQITPFGQSVRLVAKQLELELEVVWGPDSHLMVLVERKYMGQMCGLCGNFDGKVTNEFVSEEGKFLEPHKF +AALQKLDDPGEICTFQDIPSTHVRQAQHARICTQLLTLVAPECSVSKEPFVLSCQADVAAAPQPGPQNSSCATLSEYSRQCSMVGQPVRRWRSPGLCSVG +QCPANQVYQECGSACVKTCSNPQHSCSSSCTFGCFCPEGTVLNDLSNNHTCVPVTQCPCVLHGAMYAPGEVTIAACQTCRCTLGRWVCTERPCPGHCSLE +GGSFVTTFDARPYRFHGTCTYILLQSPQLPEDGALMAVYDKSGVSHSETSLVAVVYLSRQDKIVISQDEVVTNNGEAKWLPYKTRNITVFRQTSTHLQMA +TSFGLELVVQLRPIFQAYVTVGPQFRGQTRGLCGNFNGDTTDDFTTSMGIAEGTASLFVDSWRAGNCPAALERETDPCSMSQLNKVCAETHCSMLLRTGT +VFERCHATVNPAPFYKRCVYQACNYEETFPHICAALGDYVHACSLRGVLLWGWRSSVDNCTIPCTGNTTFSYNSQACERTCLSLSDRATECHHSAVPVDG +CNCPDGTYLNQKGECVRKAQCPCILEGYKFILAEQSTVINGITCHCINGRLSCPQRPQMFLASCQAPKTFKSCSQSSENKFGAACAPTCQMLATGVACVP +TKCEPGCVCAEGLYENADGQCVPPEECPCEFSGVSYPGGAELHTDCRTCSCSRGRWACQQGTHCPSTCTLYGEGHVITFDGQRFVFDGNCEYILATDVCG +VNDSQPTFKILTENVICGNSGVTCSRAIKIFLGGLSVVLADRNYTVTGEEPHVQLGVTPGALSLVVDISIPGRYNLTLIWNRHMTILIRIARASQDPLCG +LCGNFNGNMKDDFETRSRYVASSELELVNSWKESPLCGDVSFVTDPCSLNAFRRSWAERKCSVINSQTFATCHSKVYHLPYYEACVRDACGCDSGGDCEC +LCDAVAAYAQACLDKGVCVDWRTPAFCPIYCGFYNTHTQDGHGEYQYTQEANCTWHYQPCLCPSQPQSVPGSNIEGCYNCSQDEYFDHEEGVCVPCMPPT +TPQPPTTPQLPTTGSRPTQVWPMTGTSTTIGLLSSTGPSPSSNHTPASPTQTPLLPATLTSSKPTASSGEPPRPTTAVTPQATSGLPPTATLRSTATKPT +VTQATTRATASTASPATTSTAQSTTRTTMTLPTPATSGTSPTLPKSTNQELPGTTATQTTGPRPTPASTTGPTTPQPGQPTRPTATETTQTRTTTEYTTP +QTPHTTHSPPTAGSPVPSTGPVTATSFHATTTYPTPSHPETTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASNHSAPTGTIPPPTTLKATGSTHTAP +PITPTTSGTSQAHSSFSTNKTPTSLHSHTSSTHHPEVTPTSTTTITPNPTSTRTRTPVAHTNSATSSRPPPPFTTHSPPTGSSPFSSTGPMTATSFKTTT +TYPTPSHPQTTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASIHSMPTGTIPPPTTLKATGSTHTAPTMTLTTSGTSQALSSLNTAKTSTSLHSHTSS +THHAEATSTSTTNITPNPTSTGTPPMTVTTSGTSQSRSSFSTAKTSTSLHSHTSSTHHPEVTSTSTTSITPNHTSTGTRTPVAHTTSATSSRLPTPFTTH +SPPTGTTPISSTGPVTATSFQTTTTYPTPSHPHTTLPTHVPSFSTSLVTPSTHTVIIPTHTQMATSASIHSMPTGTIPPPTTIKATGSTHTAPPMTPTTS +GTSQSPSSFSTAKTSTSLPYHTSSTHHPEVTPTSTTNITPKHTSTGTRTPVAHTTSASSSRLPTPFTTHSPPTGSSPVSSTGPMTATSFQTTTTYPTPSH +PQTTLPTHVPPFSTSLVTPSTHTVIITTHTQMATSASIHSTPTGTVPPPTTLKATGSTHTAPPMTVTTSGTSQTHSSFSTATASSSFISSSSWLPQNSSS +RPPSSPITTQLPHLSSATTPVSTTNQLSSSFSPSPSAPSTVSSYVPSSHSSPQTSSPSVGTSSSFVSAPVHSTTLSSGSHSSLSTHPTTASVSASPLFPS +SPAASTTIRATLPHTISSPFTLSALLPISTVTVSPTPSSHLASSTIAFPSTPRTTASTHTAPAFSSQSTTSRSTSLTTRVPTSGFVSLTSGVTGIPTSPV +TNLTTRHPGPTLSPTTRFLTSSLTAHGSTPASAPVSSLGTPTPTSPGVCSVREQQEEITFKGCMANVTVTRCEGACISAASFNIITQQVDARCSCCRPLH +SYEQQLELPCPDPSTPGRRLVLTLQVFSHCVCSSVACGD* +>line24144 NM_005961 WILDTYPE +MVQRWLLLSCCGALLSAGLANTSYTSPGLQRLKDSPQTAPDKGQCSTWGAGHFSTFDHHVYDFSGTCNYIFAATCKDAFPTFSVQLRRGPDGSISRIIVE +LGASVVTVSEAIISVKDIGVISLPYTSNGLQITPFGQSVRLVAKQLELELEVVWGPDSHLMVLVERKYMGQMCGLCGNFDGKVTNEFVSEEGKFLEPHKF +AALQKLDDPGEICTFQDIPSTHVRQAQHARICTQLLTLVAPECSVSKEPFVLSCQADVAAAPQPGPQNSSCATLSEYSRQCSMVGQPVRRWRSPGLCSVG +QCPANQVYQECGSACVKTCSNPQHSCSSSCTFGCFCPEGTVLNDLSNNHTCVPVTQCPCVLHGAMYAPGEVTIAACQTCRCTLGRWVCTERPCPGHCSLE +GGSFVTTFDARPYRFHGTCTYILLQSPQLPEDGALMAVYDKSGVSHSETSLVAVVYLSRQDKIVISQDEVVTNNGEAKWLPYKTRNITVFRQTSTHLQMA +TSFGLELVVQLRPIFQAYVTVGPQFRGQTRGLCGNFNGDTTDDFTTSMGIAEGTASLFVDSWRAGNCPAALERETDPCSMSQLNKVCAETHCSMLLRTGT +VFERCHATVNPAPFYKRCVYQACNYEETFPHICAALGDYVHACSLRGVLLWGWRSSVDNCTIPCTGNTTFSYNSQACERTCLSLSDRATECHHSAVPVDG +CNCPDGTYLNQKGECVRKAQCPCILEGYKFILAEQSTVINGITCHCINGRLSCPQRPQMFLASCQAPKTFKSCSQSSENKFGAACAPTCQMLATGVACVP +TKCEPGCVCAEGLYENADGQCVPPEECPCEFSGVSYPGGAELHTDCRTCSCSRGRWACQQGTHCPSTCTLYGEGHVITFDGQRFVFDGNCEYILATDVCG +VNDSQPTFKILTENVICGNSGVTCSRAIKIFLGGLSVVLADRNYTVTGEEPHVQLGVTPGALSLVVDISIPGRYNLTLIWNRHMTILIRIARASQDPLCG +LCGNFNGNMKDDFETRSRYVASSELELVNSWKESPLCGDVSFVTDPCSLNAFRRSWAERKCSVINSQTFATCHSKVYHLPYYEACVRDACGCDSGGDCEC +LCDAVAAYAQACLDKGVCVDWRTPAFCPIYCGFYNTHTQDGHGEYQYTQEANCTWHYQPCLCPSQPQSVPGSNIEGCYNCSQDEYFDHEEGVCVPCMPPT +TPQPPTTPQLPTTGSRPTQVWPMTGTSTTIGLLSSTGPSPSSNHTPASPTQTPLLPATLTSSKPTASSGEPPRPTTAVTPQATSGLPPTATLRSTATKPT +VTQATTRATASTASPATTSTAQSTTRTTMTLPTPATSGTSPTLPKSTNQELPGTTATQTTGPRPTPASTTGPTTPQPGQPTRPTATETTQTRTTTEYTTP +QTPHTTHSPPTAGSPVPSTGPVTATSFHATTTYPTPSHPETTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASNHSAPTGTIPPPTTLKATGSTHTAP +PITPTTSGTSQAHSSFSTNKTPTSLHSHTSSTHHPEVTPTSTTTITPNPTSTRTRTPVAHTNSATSSRPPPPFTTHSPPTGSSPFSSTGPMTATSFKTTT +TYPTPSHPQTTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASIHSMPTGTIPPPTTLKATGSTHTAPTMTLTTSGTSQALSSLNTAKTSTSLHSHTSS +THHAEATSTSTTNITPNPTSTGTPPMTVTTSGTSQSRSSFSTAKTSTSLHSHTSSTHHPEVTSTSTTSITPNHTSTGTRTPVAHTTSATSSRLPTPFTTH +SPPTGTTPISSTGPVTATSFQTTTTYPTPSHPHTTLPTHVPSFSTSLVTPSTHTVIIPTHTQMATSASIHSMPTGTIPPPTTIKATGSTHTAPPMTPTTS +GTSQSPSSFSTAKTSTSLPYHTSSTHHPEVTPTSTTNITPKHTSTGTRTPVAHTTSASSSRLPTPFTTHSPPTGSSPFSSTGPMTATSFQTTTTYPTPSH +PQTTLPTHVPPFSTSLVTPSTHTVIITTHTQMATSASIHSTPTGTVPPPTTLKATGSTHTAPPMTVTTSGTSQTHSSFSTATASSSFISSSSWLPQNSSS +RPPSSPITTQLPHLSSATTPVSTTNQLSSSFSPSPSAPSTVSSYVPSSHSSPQTSSPSVGTSSSFVSAPVHSTTLSSGSHSSLSTHPTTASVSASPLFPS +SPAASTTIRATLPHTISSPFTLSALLPISTVTVSPTPSSHLASSTIAFPSTPRTTASTHTAPAFSSQSTTSRSTSLTTRVPTSGFVSLTSGVTGIPTSPV +TNLTTRHPGPTLSPTTRFLTSSLTAHGSTPASAPVSSLGTPTPTSPGVCSVREQQEEITFKGCMANVTVTRCEGACISAASFNIITQQVDARCSCCRPLH +SYEQQLELPCPDPSTPGRRLVLTLQVFSHCVCSSVACGD* +>line24144 NM_005961 c.5911_5912TT p.P1971L protein-altering (position 1971 changed from P to L) +MVQRWLLLSCCGALLSAGLANTSYTSPGLQRLKDSPQTAPDKGQCSTWGAGHFSTFDHHVYDFSGTCNYIFAATCKDAFPTFSVQLRRGPDGSISRIIVE +LGASVVTVSEAIISVKDIGVISLPYTSNGLQITPFGQSVRLVAKQLELELEVVWGPDSHLMVLVERKYMGQMCGLCGNFDGKVTNEFVSEEGKFLEPHKF +AALQKLDDPGEICTFQDIPSTHVRQAQHARICTQLLTLVAPECSVSKEPFVLSCQADVAAAPQPGPQNSSCATLSEYSRQCSMVGQPVRRWRSPGLCSVG +QCPANQVYQECGSACVKTCSNPQHSCSSSCTFGCFCPEGTVLNDLSNNHTCVPVTQCPCVLHGAMYAPGEVTIAACQTCRCTLGRWVCTERPCPGHCSLE +GGSFVTTFDARPYRFHGTCTYILLQSPQLPEDGALMAVYDKSGVSHSETSLVAVVYLSRQDKIVISQDEVVTNNGEAKWLPYKTRNITVFRQTSTHLQMA +TSFGLELVVQLRPIFQAYVTVGPQFRGQTRGLCGNFNGDTTDDFTTSMGIAEGTASLFVDSWRAGNCPAALERETDPCSMSQLNKVCAETHCSMLLRTGT +VFERCHATVNPAPFYKRCVYQACNYEETFPHICAALGDYVHACSLRGVLLWGWRSSVDNCTIPCTGNTTFSYNSQACERTCLSLSDRATECHHSAVPVDG +CNCPDGTYLNQKGECVRKAQCPCILEGYKFILAEQSTVINGITCHCINGRLSCPQRPQMFLASCQAPKTFKSCSQSSENKFGAACAPTCQMLATGVACVP +TKCEPGCVCAEGLYENADGQCVPPEECPCEFSGVSYPGGAELHTDCRTCSCSRGRWACQQGTHCPSTCTLYGEGHVITFDGQRFVFDGNCEYILATDVCG +VNDSQPTFKILTENVICGNSGVTCSRAIKIFLGGLSVVLADRNYTVTGEEPHVQLGVTPGALSLVVDISIPGRYNLTLIWNRHMTILIRIARASQDPLCG +LCGNFNGNMKDDFETRSRYVASSELELVNSWKESPLCGDVSFVTDPCSLNAFRRSWAERKCSVINSQTFATCHSKVYHLPYYEACVRDACGCDSGGDCEC +LCDAVAAYAQACLDKGVCVDWRTPAFCPIYCGFYNTHTQDGHGEYQYTQEANCTWHYQPCLCPSQPQSVPGSNIEGCYNCSQDEYFDHEEGVCVPCMPPT +TPQPPTTPQLPTTGSRPTQVWPMTGTSTTIGLLSSTGPSPSSNHTPASPTQTPLLPATLTSSKPTASSGEPPRPTTAVTPQATSGLPPTATLRSTATKPT +VTQATTRATASTASPATTSTAQSTTRTTMTLPTPATSGTSPTLPKSTNQELPGTTATQTTGPRPTPASTTGPTTPQPGQPTRPTATETTQTRTTTEYTTP +QTPHTTHSPPTAGSPVPSTGPVTATSFHATTTYPTPSHPETTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASNHSAPTGTIPPPTTLKATGSTHTAP +PITPTTSGTSQAHSSFSTNKTPTSLHSHTSSTHHPEVTPTSTTTITPNPTSTRTRTPVAHTNSATSSRPPPPFTTHSPPTGSSPFSSTGPMTATSFKTTT +TYPTPSHPQTTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASIHSMPTGTIPPPTTLKATGSTHTAPTMTLTTSGTSQALSSLNTAKTSTSLHSHTSS +THHAEATSTSTTNITPNPTSTGTPPMTVTTSGTSQSRSSFSTAKTSTSLHSHTSSTHHPEVTSTSTTSITPNHTSTGTRTPVAHTTSATSSRLPTPFTTH +SPPTGTTPISSTGPVTATSFQTTTTYPTPSHPHTTLPTHVPSFSTSLVTPSTHTVIIPTHTQMATSASIHSMPTGTIPPPTTIKATGSTHTAPPMTPTTS +GTSQSPSSFSTAKTSTSLPYHTSSTHHPEVTPTSTTNITPKHTSTGTRTPVAHTTSASSSRLPTPFTTHSLPTGSSPFSSTGPMTATSFQTTTTYPTPSH +PQTTLPTHVPPFSTSLVTPSTHTVIITTHTQMATSASIHSTPTGTVPPPTTLKATGSTHTAPPMTVTTSGTSQTHSSFSTATASSSFISSSSWLPQNSSS +RPPSSPITTQLPHLSSATTPVSTTNQLSSSFSPSPSAPSTVSSYVPSSHSSPQTSSPSVGTSSSFVSAPVHSTTLSSGSHSSLSTHPTTASVSASPLFPS +SPAASTTIRATLPHTISSPFTLSALLPISTVTVSPTPSSHLASSTIAFPSTPRTTASTHTAPAFSSQSTTSRSTSLTTRVPTSGFVSLTSGVTGIPTSPV +TNLTTRHPGPTLSPTTRFLTSSLTAHGSTPASAPVSSLGTPTPTSPGVCSVREQQEEITFKGCMANVTVTRCEGACISAASFNIITQQVDARCSCCRPLH +SYEQQLELPCPDPSTPGRRLVLTLQVFSHCVCSSVACGD* +>line24153 NM_005961 WILDTYPE +MVQRWLLLSCCGALLSAGLANTSYTSPGLQRLKDSPQTAPDKGQCSTWGAGHFSTFDHHVYDFSGTCNYIFAATCKDAFPTFSVQLRRGPDGSISRIIVE +LGASVVTVSEAIISVKDIGVISLPYTSNGLQITPFGQSVRLVAKQLELELEVVWGPDSHLMVLVERKYMGQMCGLCGNFDGKVTNEFVSEEGKFLEPHKF +AALQKLDDPGEICTFQDIPSTHVRQAQHARICTQLLTLVAPECSVSKEPFVLSCQADVAAAPQPGPQNSSCATLSEYSRQCSMVGQPVRRWRSPGLCSVG +QCPANQVYQECGSACVKTCSNPQHSCSSSCTFGCFCPEGTVLNDLSNNHTCVPVTQCPCVLHGAMYAPGEVTIAACQTCRCTLGRWVCTERPCPGHCSLE +GGSFVTTFDARPYRFHGTCTYILLQSPQLPEDGALMAVYDKSGVSHSETSLVAVVYLSRQDKIVISQDEVVTNNGEAKWLPYKTRNITVFRQTSTHLQMA +TSFGLELVVQLRPIFQAYVTVGPQFRGQTRGLCGNFNGDTTDDFTTSMGIAEGTASLFVDSWRAGNCPAALERETDPCSMSQLNKVCAETHCSMLLRTGT +VFERCHATVNPAPFYKRCVYQACNYEETFPHICAALGDYVHACSLRGVLLWGWRSSVDNCTIPCTGNTTFSYNSQACERTCLSLSDRATECHHSAVPVDG +CNCPDGTYLNQKGECVRKAQCPCILEGYKFILAEQSTVINGITCHCINGRLSCPQRPQMFLASCQAPKTFKSCSQSSENKFGAACAPTCQMLATGVACVP +TKCEPGCVCAEGLYENADGQCVPPEECPCEFSGVSYPGGAELHTDCRTCSCSRGRWACQQGTHCPSTCTLYGEGHVITFDGQRFVFDGNCEYILATDVCG +VNDSQPTFKILTENVICGNSGVTCSRAIKIFLGGLSVVLADRNYTVTGEEPHVQLGVTPGALSLVVDISIPGRYNLTLIWNRHMTILIRIARASQDPLCG +LCGNFNGNMKDDFETRSRYVASSELELVNSWKESPLCGDVSFVTDPCSLNAFRRSWAERKCSVINSQTFATCHSKVYHLPYYEACVRDACGCDSGGDCEC +LCDAVAAYAQACLDKGVCVDWRTPAFCPIYCGFYNTHTQDGHGEYQYTQEANCTWHYQPCLCPSQPQSVPGSNIEGCYNCSQDEYFDHEEGVCVPCMPPT +TPQPPTTPQLPTTGSRPTQVWPMTGTSTTIGLLSSTGPSPSSNHTPASPTQTPLLPATLTSSKPTASSGEPPRPTTAVTPQATSGLPPTATLRSTATKPT +VTQATTRATASTASPATTSTAQSTTRTTMTLPTPATSGTSPTLPKSTNQELPGTTATQTTGPRPTPASTTGPTTPQPGQPTRPTATETTQTRTTTEYTTP +QTPHTTHSPPTAGSPVPSTGPVTATSFHATTTYPTPSHPETTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASNHSAPTGTIPPPTTLKATGSTHTAP +PITPTTSGTSQAHSSFSTNKTPTSLHSHTSSTHHPEVTPTSTTTITPNPTSTRTRTPVAHTNSATSSRPPPPFTTHSPPTGSSPFSSTGPMTATSFKTTT +TYPTPSHPQTTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASIHSMPTGTIPPPTTLKATGSTHTAPTMTLTTSGTSQALSSLNTAKTSTSLHSHTSS +THHAEATSTSTTNITPNPTSTGTPPMTVTTSGTSQSRSSFSTAKTSTSLHSHTSSTHHPEVTSTSTTSITPNHTSTGTRTPVAHTTSATSSRLPTPFTTH +SPPTGTTPISSTGPVTATSFQTTTTYPTPSHPHTTLPTHVPSFSTSLVTPSTHTVIIPTHTQMATSASIHSMPTGTIPPPTTIKATGSTHTAPPMTPTTS +GTSQSPSSFSTAKTSTSLPYHTSSTHHPEVTPTSTTNITPKHTSTGTRTPVAHTTSASSSRLPTPFTTHSPPTGSSPFSSTGPMTATSFQTTTTYPTPSH +PQTTLPTHVPPFSTSLVTPSTHTVIITTHTQMATSASIHSTPTGTVPPPTTLKATGSTHTAPPMTVTTSGTSQTHSSFSTATASSSFISSSSWLPQNSSS +RPPSSPITTQLPHLSSATTPVSTTNQLSSSFSPSPSAPSTVSSYVPSSHSSPQTSSPSVGTSSSFVSAPVHSTTLSSGSHSSLSTHPTTASVSASPLFPS +SPAASTTIRATLPHTISSPFTLSALLPISTVTVSPTPSSHLASSTIAFPSTPRTTASTHTAPAFSSQSTTSRSTSLTTRVPTSGFVSLTSGVTGIPTSPV +TNLTTRHPGPTLSPTTRFLTSSLTAHGSTPASAPVSSLGTPTPTSPGVCSVREQQEEITFKGCMANVTVTRCEGACISAASFNIITQQVDARCSCCRPLH +SYEQQLELPCPDPSTPGRRLVLTLQVFSHCVCSSVACGD* +>line24153 NM_005961 c.5688_5689GG p.P1897A protein-altering (position 1897 changed from P to A) +MVQRWLLLSCCGALLSAGLANTSYTSPGLQRLKDSPQTAPDKGQCSTWGAGHFSTFDHHVYDFSGTCNYIFAATCKDAFPTFSVQLRRGPDGSISRIIVE +LGASVVTVSEAIISVKDIGVISLPYTSNGLQITPFGQSVRLVAKQLELELEVVWGPDSHLMVLVERKYMGQMCGLCGNFDGKVTNEFVSEEGKFLEPHKF +AALQKLDDPGEICTFQDIPSTHVRQAQHARICTQLLTLVAPECSVSKEPFVLSCQADVAAAPQPGPQNSSCATLSEYSRQCSMVGQPVRRWRSPGLCSVG +QCPANQVYQECGSACVKTCSNPQHSCSSSCTFGCFCPEGTVLNDLSNNHTCVPVTQCPCVLHGAMYAPGEVTIAACQTCRCTLGRWVCTERPCPGHCSLE +GGSFVTTFDARPYRFHGTCTYILLQSPQLPEDGALMAVYDKSGVSHSETSLVAVVYLSRQDKIVISQDEVVTNNGEAKWLPYKTRNITVFRQTSTHLQMA +TSFGLELVVQLRPIFQAYVTVGPQFRGQTRGLCGNFNGDTTDDFTTSMGIAEGTASLFVDSWRAGNCPAALERETDPCSMSQLNKVCAETHCSMLLRTGT +VFERCHATVNPAPFYKRCVYQACNYEETFPHICAALGDYVHACSLRGVLLWGWRSSVDNCTIPCTGNTTFSYNSQACERTCLSLSDRATECHHSAVPVDG +CNCPDGTYLNQKGECVRKAQCPCILEGYKFILAEQSTVINGITCHCINGRLSCPQRPQMFLASCQAPKTFKSCSQSSENKFGAACAPTCQMLATGVACVP +TKCEPGCVCAEGLYENADGQCVPPEECPCEFSGVSYPGGAELHTDCRTCSCSRGRWACQQGTHCPSTCTLYGEGHVITFDGQRFVFDGNCEYILATDVCG +VNDSQPTFKILTENVICGNSGVTCSRAIKIFLGGLSVVLADRNYTVTGEEPHVQLGVTPGALSLVVDISIPGRYNLTLIWNRHMTILIRIARASQDPLCG +LCGNFNGNMKDDFETRSRYVASSELELVNSWKESPLCGDVSFVTDPCSLNAFRRSWAERKCSVINSQTFATCHSKVYHLPYYEACVRDACGCDSGGDCEC +LCDAVAAYAQACLDKGVCVDWRTPAFCPIYCGFYNTHTQDGHGEYQYTQEANCTWHYQPCLCPSQPQSVPGSNIEGCYNCSQDEYFDHEEGVCVPCMPPT +TPQPPTTPQLPTTGSRPTQVWPMTGTSTTIGLLSSTGPSPSSNHTPASPTQTPLLPATLTSSKPTASSGEPPRPTTAVTPQATSGLPPTATLRSTATKPT +VTQATTRATASTASPATTSTAQSTTRTTMTLPTPATSGTSPTLPKSTNQELPGTTATQTTGPRPTPASTTGPTTPQPGQPTRPTATETTQTRTTTEYTTP +QTPHTTHSPPTAGSPVPSTGPVTATSFHATTTYPTPSHPETTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASNHSAPTGTIPPPTTLKATGSTHTAP +PITPTTSGTSQAHSSFSTNKTPTSLHSHTSSTHHPEVTPTSTTTITPNPTSTRTRTPVAHTNSATSSRPPPPFTTHSPPTGSSPFSSTGPMTATSFKTTT +TYPTPSHPQTTLPTHVPPFSTSLVTPSTHTVITPTHAQMATSASIHSMPTGTIPPPTTLKATGSTHTAPTMTLTTSGTSQALSSLNTAKTSTSLHSHTSS +THHAEATSTSTTNITPNPTSTGTPPMTVTTSGTSQSRSSFSTAKTSTSLHSHTSSTHHPEVTSTSTTSITPNHTSTGTRTPVAHTTSATSSRLPTPFTTH +SPPTGTTPISSTGPVTATSFQTTTTYPTPSHPHTTLPTHVPSFSTSLVTPSTHTVIIPTHTQMATSASIHSMPTGTIPPPTTIKATGSTHTAPPMTATTS +GTSQSPSSFSTAKTSTSLPYHTSSTHHPEVTPTSTTNITPKHTSTGTRTPVAHTTSASSSRLPTPFTTHSPPTGSSPFSSTGPMTATSFQTTTTYPTPSH +PQTTLPTHVPPFSTSLVTPSTHTVIITTHTQMATSASIHSTPTGTVPPPTTLKATGSTHTAPPMTVTTSGTSQTHSSFSTATASSSFISSSSWLPQNSSS +RPPSSPITTQLPHLSSATTPVSTTNQLSSSFSPSPSAPSTVSSYVPSSHSSPQTSSPSVGTSSSFVSAPVHSTTLSSGSHSSLSTHPTTASVSASPLFPS +SPAASTTIRATLPHTISSPFTLSALLPISTVTVSPTPSSHLASSTIAFPSTPRTTASTHTAPAFSSQSTTSRSTSLTTRVPTSGFVSLTSGVTGIPTSPV +TNLTTRHPGPTLSPTTRFLTSSLTAHGSTPASAPVSSLGTPTPTSPGVCSVREQQEEITFKGCMANVTVTRCEGACISAASFNIITQQVDARCSCCRPLH +SYEQQLELPCPDPSTPGRRLVLTLQVFSHCVCSSVACGD* +>line24278 NM_144666 WILDTYPE +MVPEERRVGLSSDETSSDSLKSWHSICVLDSKEQPLACQQKQRQFVKPVTESEQPTVLELLLAELRTLFSAVLQDSSPAAWRYLHAVLGLLPPYRELLVG +HLDLLPFLEQLYCWAPWVQTHLHLDLLGAIVQAFPPDSSLLDSASHADCCPQKRRLHHRPPCPACPFVQAQWSRQQVKEELATWLRPLTLPELQRCLGIV +GAQVALEEAVWLDGLSLLPLALAADIPVRYESSDTDNAEVEPVGRKETRSQLDYEVPREKAFQKSSTGFSPETSFLDSQVMTALKMERYLKKIHFLYLNV +APSRYFRPYSLMVVPPDKVNPEHYIFSPFGILHVHPVEGSETMTLGTWHHHCVLWQQLQFIPFFKYCLLRKSFTCWKKNVRLQGLHRLQKFLENHLLLAV +PHFGAGLLHISRLLQELHSVSWLPQELDRCYELLDLQTALAEEKHKALRLLHRCLNLCTSILRLVHEDTYHMQQCLQERVQNCDRIRTGQGSIYLQRVQH +KQLEQKLKQAEAWWLQLGKFARLVDYMICQSLISVLEEQITSFVANILQAPRQKPFLSSQLVFDDHGQLSHVPCVENMIQTLTGGLQSVKTSALQVVQSA +DLKTSSDSLYSEEEDEEEDSKDEFLMPKFQGQPSDAVSIFCGPNVGLVWPWKSHPIAGILEVRGCRLRGQYFPHNYKQLEEDLDNNPKIQQALNIQQVLL +EGVLCKVQEFCREHHWITGIYEFLQSWGPQKLEDMRGGPIKNYVTLVSRLNVWQARVSSMPIELLTKGGLLLLSCHDVQAEMESKLNSIRKDILAHVQNE +CWNLSQQLMTELTDFMHIFRTINSDIHAIAQCTQKLNEANEQYVELEERMEYVRALHELIRNHFSLFSAENEALDISVRRQFGESPIPPCPPPPQPHLLH +CPLLAPQLLDMWEAFQFEKSQASEFLLSKRHAIMPKLQQLMAAALAELEGLLAKALSGPFMDPTQDQRSTEHQLVSLERQFQNTVSDLSELHHAYAIFTE +DETPVPLPICGTRPIVQQQRIWHLYRVISENISEWKCMAFAKFSPAMAQEKTEGWLTEAARMSTTLELHSPVLQHCMRILGEFRSYLPLLTKLGSLHPQS +LNCQCLLRALGLGSLQTIELLTLGQLLTYPLLEFADRINQVWQNENERIHAQETIRRLQRYWEARQLRLLNFILHVPYEPPASERSKRQVLRSPQWEVVD +KDSGTFILSDYSNLQDSIQESLQVLSKILAIEKSGDLNKIALEWVAIMHGLGALLEVWLTFQQKWIFLNKVLHEMKIQFPNADLNSRFKVMDDQYRTLMR +ISVADPMVLSLVVPSAERSPYFQGQQLQQLLQAGSVELEGIIMSLESVLYGVCAHFPRLFFLSDSELVALLAARLESCEAQLWVRRCFPHVHAVSFRSCP +TGEKNTDDWESSPNTQTQVEALAVLGAGGEEVKLQGPLPLHPDLPKWLASLEKCLRLALVHMLQGCVAARLARGPSLGEALKQLPKQNKLYLQLYVQHWI +DLVQAFPWQCVLVAEEVVWRAEMEEALLEWGTLAMVSMHMRKLEVLVNFMRAQRASQGGQSLPSVRQTSLLSALLVMAVTHRDIAQLLEQHQVSDLTDFH +WVRQLKYHLGSPHIIPKSPLQSLKTIASSEPSLSPAACWIDVLGRSFLYNYEYLGPRLGPLPSLLPERPALVLLLALEEVACGTVLGPNGVGKRAIVNSL +AQALGRQLVMLPCSPQIEAQCLSNYLNGALQGGAWLLLEKVHQLPPGLLSALGQRLGELHHLYAPLYQEASRNTSTIDPTQPQLLGSSFFEKHHVSVRLG +YGCLLVLRALSSAVPANLHLLLRPVALALPDLRQVAELTLLGAGMRDAFQMATRLSKFFSLERELVSGPLPCRLPLLKQILEDTIRTLNVTKEEPKCQKP +RSLAAIEEAALLRSPLFSILNGLHLHNLRGLLCALFPSASQVLAEPMTYKLMKPLVVEELQQVGLDPSPDILGSLEQLSQALSRASGILLLGPAGSGKTT +CWHSLFKIQNRLAAMEDTSTQGCQPVEITHLYPSGLSPQEFLGWLEGSCWHHGIFPKVLRAAGQCNNMGQKRQTEESIGIQHWIICDGASNGAWLDSITC +LLSELPQLSLPSGQQIARPPGTFLLMEVADTTGISPTVVGCCALVWCGGEQTWQCILSALMASLPYEYRLQHRTVAELNHMAEVLVPATLRFLTCQGVSS +LLQVHGQQAVCAGVAEVTSMARILHSLLDLHLRLKEEKAPGPEDLSYSDPVAQSFRSSKSSFLNRSQVDSDDVPDKCREHLLAVSSFLFALIWGFGAHLP +SRFWPIFDTFIRDSISRLSNYPEPPPSALVFDLHVSPEDGTLVPFTGQYLSSHIKGTLGTFHPSIQTERLLYVVDLLLSGGQPVLLAGEAATGKSAFVEV +LVEPHHPYIYSPIHPAFSSSHLRLLLSRGIQGQTQASPQPGHHQDSKPSLLFLLEDLHLATSDPEKSCQPVLETLRQAMDGTVYAHSTLELQTLQPTVNF +LATVTVPGYCERPLCPRLFRLFTVLALESMTQATLLERHVPIIQAWLERFPSVERERALARGLVRASVEAWEAVCNCFMPSPLHPHYHFSLHSVSHLLSS +LQLLPNRTGSRGFVDYPNHQEHLRRVSGLRGTCLTVMMATRNVVRLWLHEAQRTFCDRLDSPRERSYCAKLLLVVAQSVFCCGPGPQHLGKDHQESEEEE +EEERVPEVESEGELAQWEDFSNSNSETEEEEEPYGLQVARVSNSRDPSLTPSIGPVSRGMKESISHKIRQEKGTRASNYRLQVRRSFKTWWQKKPQMDLI +SPLLLPVLLLHPQEKPSDLVFSQELILGPNSETPNLYLERQWEKLEEQLATSAAQLKLSPHLARCHSMAQHVARLVRVLARPRQHGLLLSGALGTGRHTA +ITLASSICQAHFFHLPSGSEEAILQCLRDASWHAGMLSQPVALLVPSGVDLTTLHRLLALATSGSFPGQYTEADLDRIGEHLPRENLGVKQNIKKEMVLQ +RFHQQVCSHLHLFFLIGDKQAHKQLPSTLFLRLLQLATASIDRYEPWDQAALAKVAQHHLEGAQSVPLDDGSWKYPDLQASIPSVAKAMALIHLSATHYH +EHLCPALPLVTPKTFLDFLDTFLMLQQQTILKIKNKAQRVQNALENLRMLIKEHGTHANLIFDLEQQLKDSGKSLSMFQQQLEQSKLLYKQQLEECRHQE +NLIENLARQRDALQAQREAFLEQMSKAFLEPLSQLQVADFEEIRSYRAPPESVVRVTDAMCDLFHHETGWASAKQLLCTEDFYQELVFFPKEKITDSELI +KLHLILKAPGMDDAALRAVSRPAASLAAWLWAVLHYGLAHCRGLPTDLLLQQVEATLTREQARLGYYQFQAQETLEHNLALAKMVEDAQASHNCVAKTLS +QAQCGQYHKWPMKAALLTPMRAWTTQLQKLKGRCMTVFGDTLLCSAAIIYLGPFPPLRRQELLDEWLALCRGFQEALGPDDVAQALKRKQKSVSIPPKNP +LLATHSPFSILSLLSSESEQYQWDGNLKPQAKSAHLAGLLLRSPTHYSSCRWPLLLDPSNEALIWLDPLPLEENRSFAPALTEGRGKGLMRNQKRESKTD +MKEEDDESEESNEAEDQTKEQKAEERKNEQEKEQEENEEKEEEKTESQGSKPAYETQLPSLPYLSVLSGADPELGSQLQEAAACGLPVLLTNVELGLGCE +ELQWLLQREQLSPPQVQPGFCLYLSTTLSLCAMEKVLGCELLKGLNVLDLGLNMEILEEQMLHEILCREYPELETRWQDLKIRALDTCKAVEAAEERLLT +MLLFQNPKRQKPAKFLRNIVRAQGKLCQLRAHCEELEGQKLQEMVLWAPYRPVVWHGMAMVKALSQLQNLLPLFCMSPENWLAVTKQALDSMKPREINHG +EDLASHLLQLRAHLTRQLLGSTVTALGLTQVPLVGALGALALLQATGKASELERLALWPGLAASPSTVHSKPVSDVARPAWLGPKAWHECEMLELLPPFV +GLCASLAGHSSAWQAYLSLSSTVLGPAPGPGPEPLSLLQKLILWRVLRPECLAGALADFTTSLLGRPLDENTYAPTMPFKHSQATQPMLILLPPPGHPSA +TLHPLTVIQKLAAKYQQGQKQLQVIALGSEAWDPVSVVVSTLSQAMYEGHWLVLDNCHLMPHWPKELLQLLLELLGRAKVVADLESEQLLDQPESRNVST +VHRDFRLWLIVPAESSASLPAVLTQHSMPVFWNQSLELGHVLIDSVELAQQVLYMQPPTQALPLLLLHGLLLHRQLYGTRLQAHRGRWSQVTLTQVLQTQ +DQLWASLSNPRAAMQELAASVFYGGPLGDTEDREALISLTQACLSPSSGSWVQPHTPQSLLATLMPLPELRELDAMAECKAQMHLLPSPPEPRLCGLSEG +PQAWLLRRQSRALLSALQRSSPVWVPESRRGAQLAERRLRQRLVQVNRRLESLQDLLTHVIRQDESDAPWSVLGPNARRPLEGVLETEALELSQLVGTLQ +RDLDCLLQQLKGAPPCPSRRCAAVAHALWTGRLPLPWRPHAPAGPQPPWHWLRQLSRRGQLLVRYLGVGADASSDVPERVFHLSAFRHPRRLLLALRGEA +ALDQNVPSSNFPGSRGSVSSQLQYKRLEMNSNPLHFRVENGPNPTVPERGLLLIGLQVLHAEWDPIAGALQDSPSSQPSPLPPVSISTQAPGTSDLPAPA +DLTVYSCPVYMGGPLGTAKLQSRNIVMHLPLPTKLTPNTCVQRRVHVCSPPLS* +>line24278 NM_144666 c.5726_5727insTGCCCTACTGCA p.L1912_R1913insHALL protein-altering (position 1912-1913 has insertion HALL) +MVPEERRVGLSSDETSSDSLKSWHSICVLDSKEQPLACQQKQRQFVKPVTESEQPTVLELLLAELRTLFSAVLQDSSPAAWRYLHAVLGLLPPYRELLVG +HLDLLPFLEQLYCWAPWVQTHLHLDLLGAIVQAFPPDSSLLDSASHADCCPQKRRLHHRPPCPACPFVQAQWSRQQVKEELATWLRPLTLPELQRCLGIV +GAQVALEEAVWLDGLSLLPLALAADIPVRYESSDTDNAEVEPVGRKETRSQLDYEVPREKAFQKSSTGFSPETSFLDSQVMTALKMERYLKKIHFLYLNV +APSRYFRPYSLMVVPPDKVNPEHYIFSPFGILHVHPVEGSETMTLGTWHHHCVLWQQLQFIPFFKYCLLRKSFTCWKKNVRLQGLHRLQKFLENHLLLAV +PHFGAGLLHISRLLQELHSVSWLPQELDRCYELLDLQTALAEEKHKALRLLHRCLNLCTSILRLVHEDTYHMQQCLQERVQNCDRIRTGQGSIYLQRVQH +KQLEQKLKQAEAWWLQLGKFARLVDYMICQSLISVLEEQITSFVANILQAPRQKPFLSSQLVFDDHGQLSHVPCVENMIQTLTGGLQSVKTSALQVVQSA +DLKTSSDSLYSEEEDEEEDSKDEFLMPKFQGQPSDAVSIFCGPNVGLVWPWKSHPIAGILEVRGCRLRGQYFPHNYKQLEEDLDNNPKIQQALNIQQVLL +EGVLCKVQEFCREHHWITGIYEFLQSWGPQKLEDMRGGPIKNYVTLVSRLNVWQARVSSMPIELLTKGGLLLLSCHDVQAEMESKLNSIRKDILAHVQNE +CWNLSQQLMTELTDFMHIFRTINSDIHAIAQCTQKLNEANEQYVELEERMEYVRALHELIRNHFSLFSAENEALDISVRRQFGESPIPPCPPPPQPHLLH +CPLLAPQLLDMWEAFQFEKSQASEFLLSKRHAIMPKLQQLMAAALAELEGLLAKALSGPFMDPTQDQRSTEHQLVSLERQFQNTVSDLSELHHAYAIFTE +DETPVPLPICGTRPIVQQQRIWHLYRVISENISEWKCMAFAKFSPAMAQEKTEGWLTEAARMSTTLELHSPVLQHCMRILGEFRSYLPLLTKLGSLHPQS +LNCQCLLRALGLGSLQTIELLTLGQLLTYPLLEFADRINQVWQNENERIHAQETIRRLQRYWEARQLRLLNFILHVPYEPPASERSKRQVLRSPQWEVVD +KDSGTFILSDYSNLQDSIQESLQVLSKILAIEKSGDLNKIALEWVAIMHGLGALLEVWLTFQQKWIFLNKVLHEMKIQFPNADLNSRFKVMDDQYRTLMR +ISVADPMVLSLVVPSAERSPYFQGQQLQQLLQAGSVELEGIIMSLESVLYGVCAHFPRLFFLSDSELVALLAARLESCEAQLWVRRCFPHVHAVSFRSCP +TGEKNTDDWESSPNTQTQVEALAVLGAGGEEVKLQGPLPLHPDLPKWLASLEKCLRLALVHMLQGCVAARLARGPSLGEALKQLPKQNKLYLQLYVQHWI +DLVQAFPWQCVLVAEEVVWRAEMEEALLEWGTLAMVSMHMRKLEVLVNFMRAQRASQGGQSLPSVRQTSLLSALLVMAVTHRDIAQLLEQHQVSDLTDFH +WVRQLKYHLGSPHIIPKSPLQSLKTIASSEPSLSPAACWIDVLGRSFLYNYEYLGPRLGPLPSLLPERPALVLLLALEEVACGTVLGPNGVGKRAIVNSL +AQALGRQLVMLPCSPQIEAQCLSNYLNGALQGGAWLLLEKVHQLPPGLLSALGQRLGELHHLYAPLYQEASRNTSTIDPTQPQLLGSSFFEKHHVSVRLG +YGCLLVLRALSSAVPANLHLLLRPVALALPDLRQVAELTLLGAGMRDAFQMATRLSKFFSLERELVSGPLPCRLPLLKQILEDTIRTLNVTKEEPKCQKP +RSLAAIEEAALLHALLRSPLFSILNGLHLHNLRGLLCALFPSASQVLAEPMTYKLMKPLVVEELQQVGLDPSPDILGSLEQLSQALSRASGILLLGPAGS +GKTTCWHSLFKIQNRLAAMEDTSTQGCQPVEITHLYPSGLSPQEFLGWLEGSCWHHGIFPKVLRAAGQCNNMGQKRQTEESIGIQHWIICDGASNGAWLD +SITCLLSELPQLSLPSGQQIARPPGTFLLMEVADTTGISPTVVGCCALVWCGGEQTWQCILSALMASLPYEYRLQHRTVAELNHMAEVLVPATLRFLTCQ +GVSSLLQVHGQQAVCAGVAEVTSMARILHSLLDLHLRLKEEKAPGPEDLSYSDPVAQSFRSSKSSFLNRSQVDSDDVPDKCREHLLAVSSFLFALIWGFG +AHLPSRFWPIFDTFIRDSISRLSNYPEPPPSALVFDLHVSPEDGTLVPFTGQYLSSHIKGTLGTFHPSIQTERLLYVVDLLLSGGQPVLLAGEAATGKSA +FVEVLVEPHHPYIYSPIHPAFSSSHLRLLLSRGIQGQTQASPQPGHHQDSKPSLLFLLEDLHLATSDPEKSCQPVLETLRQAMDGTVYAHSTLELQTLQP +TVNFLATVTVPGYCERPLCPRLFRLFTVLALESMTQATLLERHVPIIQAWLERFPSVERERALARGLVRASVEAWEAVCNCFMPSPLHPHYHFSLHSVSH +LLSSLQLLPNRTGSRGFVDYPNHQEHLRRVSGLRGTCLTVMMATRNVVRLWLHEAQRTFCDRLDSPRERSYCAKLLLVVAQSVFCCGPGPQHLGKDHQES +EEEEEEERVPEVESEGELAQWEDFSNSNSETEEEEEPYGLQVARVSNSRDPSLTPSIGPVSRGMKESISHKIRQEKGTRASNYRLQVRRSFKTWWQKKPQ +MDLISPLLLPVLLLHPQEKPSDLVFSQELILGPNSETPNLYLERQWEKLEEQLATSAAQLKLSPHLARCHSMAQHVARLVRVLARPRQHGLLLSGALGTG +RHTAITLASSICQAHFFHLPSGSEEAILQCLRDASWHAGMLSQPVALLVPSGVDLTTLHRLLALATSGSFPGQYTEADLDRIGEHLPRENLGVKQNIKKE +MVLQRFHQQVCSHLHLFFLIGDKQAHKQLPSTLFLRLLQLATASIDRYEPWDQAALAKVAQHHLEGAQSVPLDDGSWKYPDLQASIPSVAKAMALIHLSA +THYHEHLCPALPLVTPKTFLDFLDTFLMLQQQTILKIKNKAQRVQNALENLRMLIKEHGTHANLIFDLEQQLKDSGKSLSMFQQQLEQSKLLYKQQLEEC +RHQENLIENLARQRDALQAQREAFLEQMSKAFLEPLSQLQVADFEEIRSYRAPPESVVRVTDAMCDLFHHETGWASAKQLLCTEDFYQELVFFPKEKITD +SELIKLHLILKAPGMDDAALRAVSRPAASLAAWLWAVLHYGLAHCRGLPTDLLLQQVEATLTREQARLGYYQFQAQETLEHNLALAKMVEDAQASHNCVA +KTLSQAQCGQYHKWPMKAALLTPMRAWTTQLQKLKGRCMTVFGDTLLCSAAIIYLGPFPPLRRQELLDEWLALCRGFQEALGPDDVAQALKRKQKSVSIP +PKNPLLATHSPFSILSLLSSESEQYQWDGNLKPQAKSAHLAGLLLRSPTHYSSCRWPLLLDPSNEALIWLDPLPLEENRSFAPALTEGRGKGLMRNQKRE +SKTDMKEEDDESEESNEAEDQTKEQKAEERKNEQEKEQEENEEKEEEKTESQGSKPAYETQLPSLPYLSVLSGADPELGSQLQEAAACGLPVLLTNVELG +LGCEELQWLLQREQLSPPQVQPGFCLYLSTTLSLCAMEKVLGCELLKGLNVLDLGLNMEILEEQMLHEILCREYPELETRWQDLKIRALDTCKAVEAAEE +RLLTMLLFQNPKRQKPAKFLRNIVRAQGKLCQLRAHCEELEGQKLQEMVLWAPYRPVVWHGMAMVKALSQLQNLLPLFCMSPENWLAVTKQALDSMKPRE +INHGEDLASHLLQLRAHLTRQLLGSTVTALGLTQVPLVGALGALALLQATGKASELERLALWPGLAASPSTVHSKPVSDVARPAWLGPKAWHECEMLELL +PPFVGLCASLAGHSSAWQAYLSLSSTVLGPAPGPGPEPLSLLQKLILWRVLRPECLAGALADFTTSLLGRPLDENTYAPTMPFKHSQATQPMLILLPPPG +HPSATLHPLTVIQKLAAKYQQGQKQLQVIALGSEAWDPVSVVVSTLSQAMYEGHWLVLDNCHLMPHWPKELLQLLLELLGRAKVVADLESEQLLDQPESR +NVSTVHRDFRLWLIVPAESSASLPAVLTQHSMPVFWNQSLELGHVLIDSVELAQQVLYMQPPTQALPLLLLHGLLLHRQLYGTRLQAHRGRWSQVTLTQV +LQTQDQLWASLSNPRAAMQELAASVFYGGPLGDTEDREALISLTQACLSPSSGSWVQPHTPQSLLATLMPLPELRELDAMAECKAQMHLLPSPPEPRLCG +LSEGPQAWLLRRQSRALLSALQRSSPVWVPESRRGAQLAERRLRQRLVQVNRRLESLQDLLTHVIRQDESDAPWSVLGPNARRPLEGVLETEALELSQLV +GTLQRDLDCLLQQLKGAPPCPSRRCAAVAHALWTGRLPLPWRPHAPAGPQPPWHWLRQLSRRGQLLVRYLGVGADASSDVPERVFHLSAFRHPRRLLLAL +RGEAALDQNVPSSNFPGSRGSVSSQLQYKRLEMNSNPLHFRVENGPNPTVPERGLLLIGLQVLHAEWDPIAGALQDSPSSQPSPLPPVSISTQAPGTSDL +PAPADLTVYSCPVYMGGPLGTAKLQSRNIVMHLPLPTKLTPNTCVQRRVHVCSPPLS* +>line24280 NM_144666 WILDTYPE +MVPEERRVGLSSDETSSDSLKSWHSICVLDSKEQPLACQQKQRQFVKPVTESEQPTVLELLLAELRTLFSAVLQDSSPAAWRYLHAVLGLLPPYRELLVG +HLDLLPFLEQLYCWAPWVQTHLHLDLLGAIVQAFPPDSSLLDSASHADCCPQKRRLHHRPPCPACPFVQAQWSRQQVKEELATWLRPLTLPELQRCLGIV +GAQVALEEAVWLDGLSLLPLALAADIPVRYESSDTDNAEVEPVGRKETRSQLDYEVPREKAFQKSSTGFSPETSFLDSQVMTALKMERYLKKIHFLYLNV +APSRYFRPYSLMVVPPDKVNPEHYIFSPFGILHVHPVEGSETMTLGTWHHHCVLWQQLQFIPFFKYCLLRKSFTCWKKNVRLQGLHRLQKFLENHLLLAV +PHFGAGLLHISRLLQELHSVSWLPQELDRCYELLDLQTALAEEKHKALRLLHRCLNLCTSILRLVHEDTYHMQQCLQERVQNCDRIRTGQGSIYLQRVQH +KQLEQKLKQAEAWWLQLGKFARLVDYMICQSLISVLEEQITSFVANILQAPRQKPFLSSQLVFDDHGQLSHVPCVENMIQTLTGGLQSVKTSALQVVQSA +DLKTSSDSLYSEEEDEEEDSKDEFLMPKFQGQPSDAVSIFCGPNVGLVWPWKSHPIAGILEVRGCRLRGQYFPHNYKQLEEDLDNNPKIQQALNIQQVLL +EGVLCKVQEFCREHHWITGIYEFLQSWGPQKLEDMRGGPIKNYVTLVSRLNVWQARVSSMPIELLTKGGLLLLSCHDVQAEMESKLNSIRKDILAHVQNE +CWNLSQQLMTELTDFMHIFRTINSDIHAIAQCTQKLNEANEQYVELEERMEYVRALHELIRNHFSLFSAENEALDISVRRQFGESPIPPCPPPPQPHLLH +CPLLAPQLLDMWEAFQFEKSQASEFLLSKRHAIMPKLQQLMAAALAELEGLLAKALSGPFMDPTQDQRSTEHQLVSLERQFQNTVSDLSELHHAYAIFTE +DETPVPLPICGTRPIVQQQRIWHLYRVISENISEWKCMAFAKFSPAMAQEKTEGWLTEAARMSTTLELHSPVLQHCMRILGEFRSYLPLLTKLGSLHPQS +LNCQCLLRALGLGSLQTIELLTLGQLLTYPLLEFADRINQVWQNENERIHAQETIRRLQRYWEARQLRLLNFILHVPYEPPASERSKRQVLRSPQWEVVD +KDSGTFILSDYSNLQDSIQESLQVLSKILAIEKSGDLNKIALEWVAIMHGLGALLEVWLTFQQKWIFLNKVLHEMKIQFPNADLNSRFKVMDDQYRTLMR +ISVADPMVLSLVVPSAERSPYFQGQQLQQLLQAGSVELEGIIMSLESVLYGVCAHFPRLFFLSDSELVALLAARLESCEAQLWVRRCFPHVHAVSFRSCP +TGEKNTDDWESSPNTQTQVEALAVLGAGGEEVKLQGPLPLHPDLPKWLASLEKCLRLALVHMLQGCVAARLARGPSLGEALKQLPKQNKLYLQLYVQHWI +DLVQAFPWQCVLVAEEVVWRAEMEEALLEWGTLAMVSMHMRKLEVLVNFMRAQRASQGGQSLPSVRQTSLLSALLVMAVTHRDIAQLLEQHQVSDLTDFH +WVRQLKYHLGSPHIIPKSPLQSLKTIASSEPSLSPAACWIDVLGRSFLYNYEYLGPRLGPLPSLLPERPALVLLLALEEVACGTVLGPNGVGKRAIVNSL +AQALGRQLVMLPCSPQIEAQCLSNYLNGALQGGAWLLLEKVHQLPPGLLSALGQRLGELHHLYAPLYQEASRNTSTIDPTQPQLLGSSFFEKHHVSVRLG +YGCLLVLRALSSAVPANLHLLLRPVALALPDLRQVAELTLLGAGMRDAFQMATRLSKFFSLERELVSGPLPCRLPLLKQILEDTIRTLNVTKEEPKCQKP +RSLAAIEEAALLRSPLFSILNGLHLHNLRGLLCALFPSASQVLAEPMTYKLMKPLVVEELQQVGLDPSPDILGSLEQLSQALSRASGILLLGPAGSGKTT +CWHSLFKIQNRLAAMEDTSTQGCQPVEITHLYPSGLSPQEFLGWLEGSCWHHGIFPKVLRAAGQCNNMGQKRQTEESIGIQHWIICDGASNGAWLDSITC +LLSELPQLSLPSGQQIARPPGTFLLMEVADTTGISPTVVGCCALVWCGGEQTWQCILSALMASLPYEYRLQHRTVAELNHMAEVLVPATLRFLTCQGVSS +LLQVHGQQAVCAGVAEVTSMARILHSLLDLHLRLKEEKAPGPEDLSYSDPVAQSFRSSKSSFLNRSQVDSDDVPDKCREHLLAVSSFLFALIWGFGAHLP +SRFWPIFDTFIRDSISRLSNYPEPPPSALVFDLHVSPEDGTLVPFTGQYLSSHIKGTLGTFHPSIQTERLLYVVDLLLSGGQPVLLAGEAATGKSAFVEV +LVEPHHPYIYSPIHPAFSSSHLRLLLSRGIQGQTQASPQPGHHQDSKPSLLFLLEDLHLATSDPEKSCQPVLETLRQAMDGTVYAHSTLELQTLQPTVNF +LATVTVPGYCERPLCPRLFRLFTVLALESMTQATLLERHVPIIQAWLERFPSVERERALARGLVRASVEAWEAVCNCFMPSPLHPHYHFSLHSVSHLLSS +LQLLPNRTGSRGFVDYPNHQEHLRRVSGLRGTCLTVMMATRNVVRLWLHEAQRTFCDRLDSPRERSYCAKLLLVVAQSVFCCGPGPQHLGKDHQESEEEE +EEERVPEVESEGELAQWEDFSNSNSETEEEEEPYGLQVARVSNSRDPSLTPSIGPVSRGMKESISHKIRQEKGTRASNYRLQVRRSFKTWWQKKPQMDLI +SPLLLPVLLLHPQEKPSDLVFSQELILGPNSETPNLYLERQWEKLEEQLATSAAQLKLSPHLARCHSMAQHVARLVRVLARPRQHGLLLSGALGTGRHTA +ITLASSICQAHFFHLPSGSEEAILQCLRDASWHAGMLSQPVALLVPSGVDLTTLHRLLALATSGSFPGQYTEADLDRIGEHLPRENLGVKQNIKKEMVLQ +RFHQQVCSHLHLFFLIGDKQAHKQLPSTLFLRLLQLATASIDRYEPWDQAALAKVAQHHLEGAQSVPLDDGSWKYPDLQASIPSVAKAMALIHLSATHYH +EHLCPALPLVTPKTFLDFLDTFLMLQQQTILKIKNKAQRVQNALENLRMLIKEHGTHANLIFDLEQQLKDSGKSLSMFQQQLEQSKLLYKQQLEECRHQE +NLIENLARQRDALQAQREAFLEQMSKAFLEPLSQLQVADFEEIRSYRAPPESVVRVTDAMCDLFHHETGWASAKQLLCTEDFYQELVFFPKEKITDSELI +KLHLILKAPGMDDAALRAVSRPAASLAAWLWAVLHYGLAHCRGLPTDLLLQQVEATLTREQARLGYYQFQAQETLEHNLALAKMVEDAQASHNCVAKTLS +QAQCGQYHKWPMKAALLTPMRAWTTQLQKLKGRCMTVFGDTLLCSAAIIYLGPFPPLRRQELLDEWLALCRGFQEALGPDDVAQALKRKQKSVSIPPKNP +LLATHSPFSILSLLSSESEQYQWDGNLKPQAKSAHLAGLLLRSPTHYSSCRWPLLLDPSNEALIWLDPLPLEENRSFAPALTEGRGKGLMRNQKRESKTD +MKEEDDESEESNEAEDQTKEQKAEERKNEQEKEQEENEEKEEEKTESQGSKPAYETQLPSLPYLSVLSGADPELGSQLQEAAACGLPVLLTNVELGLGCE +ELQWLLQREQLSPPQVQPGFCLYLSTTLSLCAMEKVLGCELLKGLNVLDLGLNMEILEEQMLHEILCREYPELETRWQDLKIRALDTCKAVEAAEERLLT +MLLFQNPKRQKPAKFLRNIVRAQGKLCQLRAHCEELEGQKLQEMVLWAPYRPVVWHGMAMVKALSQLQNLLPLFCMSPENWLAVTKQALDSMKPREINHG +EDLASHLLQLRAHLTRQLLGSTVTALGLTQVPLVGALGALALLQATGKASELERLALWPGLAASPSTVHSKPVSDVARPAWLGPKAWHECEMLELLPPFV +GLCASLAGHSSAWQAYLSLSSTVLGPAPGPGPEPLSLLQKLILWRVLRPECLAGALADFTTSLLGRPLDENTYAPTMPFKHSQATQPMLILLPPPGHPSA +TLHPLTVIQKLAAKYQQGQKQLQVIALGSEAWDPVSVVVSTLSQAMYEGHWLVLDNCHLMPHWPKELLQLLLELLGRAKVVADLESEQLLDQPESRNVST +VHRDFRLWLIVPAESSASLPAVLTQHSMPVFWNQSLELGHVLIDSVELAQQVLYMQPPTQALPLLLLHGLLLHRQLYGTRLQAHRGRWSQVTLTQVLQTQ +DQLWASLSNPRAAMQELAASVFYGGPLGDTEDREALISLTQACLSPSSGSWVQPHTPQSLLATLMPLPELRELDAMAECKAQMHLLPSPPEPRLCGLSEG +PQAWLLRRQSRALLSALQRSSPVWVPESRRGAQLAERRLRQRLVQVNRRLESLQDLLTHVIRQDESDAPWSVLGPNARRPLEGVLETEALELSQLVGTLQ +RDLDCLLQQLKGAPPCPSRRCAAVAHALWTGRLPLPWRPHAPAGPQPPWHWLRQLSRRGQLLVRYLGVGADASSDVPERVFHLSAFRHPRRLLLALRGEA +ALDQNVPSSNFPGSRGSVSSQLQYKRLEMNSNPLHFRVENGPNPTVPERGLLLIGLQVLHAEWDPIAGALQDSPSSQPSPLPPVSISTQAPGTSDLPAPA +DLTVYSCPVYMGGPLGTAKLQSRNIVMHLPLPTKLTPNTCVQRRVHVCSPPLS* +>line24280 NM_144666 c.8089_8091del p.E2703del protein-altering (position 2703 changed from E to ) +MVPEERRVGLSSDETSSDSLKSWHSICVLDSKEQPLACQQKQRQFVKPVTESEQPTVLELLLAELRTLFSAVLQDSSPAAWRYLHAVLGLLPPYRELLVG +HLDLLPFLEQLYCWAPWVQTHLHLDLLGAIVQAFPPDSSLLDSASHADCCPQKRRLHHRPPCPACPFVQAQWSRQQVKEELATWLRPLTLPELQRCLGIV +GAQVALEEAVWLDGLSLLPLALAADIPVRYESSDTDNAEVEPVGRKETRSQLDYEVPREKAFQKSSTGFSPETSFLDSQVMTALKMERYLKKIHFLYLNV +APSRYFRPYSLMVVPPDKVNPEHYIFSPFGILHVHPVEGSETMTLGTWHHHCVLWQQLQFIPFFKYCLLRKSFTCWKKNVRLQGLHRLQKFLENHLLLAV +PHFGAGLLHISRLLQELHSVSWLPQELDRCYELLDLQTALAEEKHKALRLLHRCLNLCTSILRLVHEDTYHMQQCLQERVQNCDRIRTGQGSIYLQRVQH +KQLEQKLKQAEAWWLQLGKFARLVDYMICQSLISVLEEQITSFVANILQAPRQKPFLSSQLVFDDHGQLSHVPCVENMIQTLTGGLQSVKTSALQVVQSA +DLKTSSDSLYSEEEDEEEDSKDEFLMPKFQGQPSDAVSIFCGPNVGLVWPWKSHPIAGILEVRGCRLRGQYFPHNYKQLEEDLDNNPKIQQALNIQQVLL +EGVLCKVQEFCREHHWITGIYEFLQSWGPQKLEDMRGGPIKNYVTLVSRLNVWQARVSSMPIELLTKGGLLLLSCHDVQAEMESKLNSIRKDILAHVQNE +CWNLSQQLMTELTDFMHIFRTINSDIHAIAQCTQKLNEANEQYVELEERMEYVRALHELIRNHFSLFSAENEALDISVRRQFGESPIPPCPPPPQPHLLH +CPLLAPQLLDMWEAFQFEKSQASEFLLSKRHAIMPKLQQLMAAALAELEGLLAKALSGPFMDPTQDQRSTEHQLVSLERQFQNTVSDLSELHHAYAIFTE +DETPVPLPICGTRPIVQQQRIWHLYRVISENISEWKCMAFAKFSPAMAQEKTEGWLTEAARMSTTLELHSPVLQHCMRILGEFRSYLPLLTKLGSLHPQS +LNCQCLLRALGLGSLQTIELLTLGQLLTYPLLEFADRINQVWQNENERIHAQETIRRLQRYWEARQLRLLNFILHVPYEPPASERSKRQVLRSPQWEVVD +KDSGTFILSDYSNLQDSIQESLQVLSKILAIEKSGDLNKIALEWVAIMHGLGALLEVWLTFQQKWIFLNKVLHEMKIQFPNADLNSRFKVMDDQYRTLMR +ISVADPMVLSLVVPSAERSPYFQGQQLQQLLQAGSVELEGIIMSLESVLYGVCAHFPRLFFLSDSELVALLAARLESCEAQLWVRRCFPHVHAVSFRSCP +TGEKNTDDWESSPNTQTQVEALAVLGAGGEEVKLQGPLPLHPDLPKWLASLEKCLRLALVHMLQGCVAARLARGPSLGEALKQLPKQNKLYLQLYVQHWI +DLVQAFPWQCVLVAEEVVWRAEMEEALLEWGTLAMVSMHMRKLEVLVNFMRAQRASQGGQSLPSVRQTSLLSALLVMAVTHRDIAQLLEQHQVSDLTDFH +WVRQLKYHLGSPHIIPKSPLQSLKTIASSEPSLSPAACWIDVLGRSFLYNYEYLGPRLGPLPSLLPERPALVLLLALEEVACGTVLGPNGVGKRAIVNSL +AQALGRQLVMLPCSPQIEAQCLSNYLNGALQGGAWLLLEKVHQLPPGLLSALGQRLGELHHLYAPLYQEASRNTSTIDPTQPQLLGSSFFEKHHVSVRLG +YGCLLVLRALSSAVPANLHLLLRPVALALPDLRQVAELTLLGAGMRDAFQMATRLSKFFSLERELVSGPLPCRLPLLKQILEDTIRTLNVTKEEPKCQKP +RSLAAIEEAALLRSPLFSILNGLHLHNLRGLLCALFPSASQVLAEPMTYKLMKPLVVEELQQVGLDPSPDILGSLEQLSQALSRASGILLLGPAGSGKTT +CWHSLFKIQNRLAAMEDTSTQGCQPVEITHLYPSGLSPQEFLGWLEGSCWHHGIFPKVLRAAGQCNNMGQKRQTEESIGIQHWIICDGASNGAWLDSITC +LLSELPQLSLPSGQQIARPPGTFLLMEVADTTGISPTVVGCCALVWCGGEQTWQCILSALMASLPYEYRLQHRTVAELNHMAEVLVPATLRFLTCQGVSS +LLQVHGQQAVCAGVAEVTSMARILHSLLDLHLRLKEEKAPGPEDLSYSDPVAQSFRSSKSSFLNRSQVDSDDVPDKCREHLLAVSSFLFALIWGFGAHLP +SRFWPIFDTFIRDSISRLSNYPEPPPSALVFDLHVSPEDGTLVPFTGQYLSSHIKGTLGTFHPSIQTERLLYVVDLLLSGGQPVLLAGEAATGKSAFVEV +LVEPHHPYIYSPIHPAFSSSHLRLLLSRGIQGQTQASPQPGHHQDSKPSLLFLLEDLHLATSDPEKSCQPVLETLRQAMDGTVYAHSTLELQTLQPTVNF +LATVTVPGYCERPLCPRLFRLFTVLALESMTQATLLERHVPIIQAWLERFPSVERERALARGLVRASVEAWEAVCNCFMPSPLHPHYHFSLHSVSHLLSS +LQLLPNRTGSRGFVDYPNHQEHLRRVSGLRGTCLTVMMATRNVVRLWLHEAQRTFCDRLDSPRERSYCAKLLLVVAQSVFCCGPGPQHLGKDHQESEEEE +EERVPEVESEGELAQWEDFSNSNSETEEEEEPYGLQVARVSNSRDPSLTPSIGPVSRGMKESISHKIRQEKGTRASNYRLQVRRSFKTWWQKKPQMDLIS +PLLLPVLLLHPQEKPSDLVFSQELILGPNSETPNLYLERQWEKLEEQLATSAAQLKLSPHLARCHSMAQHVARLVRVLARPRQHGLLLSGALGTGRHTAI +TLASSICQAHFFHLPSGSEEAILQCLRDASWHAGMLSQPVALLVPSGVDLTTLHRLLALATSGSFPGQYTEADLDRIGEHLPRENLGVKQNIKKEMVLQR +FHQQVCSHLHLFFLIGDKQAHKQLPSTLFLRLLQLATASIDRYEPWDQAALAKVAQHHLEGAQSVPLDDGSWKYPDLQASIPSVAKAMALIHLSATHYHE +HLCPALPLVTPKTFLDFLDTFLMLQQQTILKIKNKAQRVQNALENLRMLIKEHGTHANLIFDLEQQLKDSGKSLSMFQQQLEQSKLLYKQQLEECRHQEN +LIENLARQRDALQAQREAFLEQMSKAFLEPLSQLQVADFEEIRSYRAPPESVVRVTDAMCDLFHHETGWASAKQLLCTEDFYQELVFFPKEKITDSELIK +LHLILKAPGMDDAALRAVSRPAASLAAWLWAVLHYGLAHCRGLPTDLLLQQVEATLTREQARLGYYQFQAQETLEHNLALAKMVEDAQASHNCVAKTLSQ +AQCGQYHKWPMKAALLTPMRAWTTQLQKLKGRCMTVFGDTLLCSAAIIYLGPFPPLRRQELLDEWLALCRGFQEALGPDDVAQALKRKQKSVSIPPKNPL +LATHSPFSILSLLSSESEQYQWDGNLKPQAKSAHLAGLLLRSPTHYSSCRWPLLLDPSNEALIWLDPLPLEENRSFAPALTEGRGKGLMRNQKRESKTDM +KEEDDESEESNEAEDQTKEQKAEERKNEQEKEQEENEEKEEEKTESQGSKPAYETQLPSLPYLSVLSGADPELGSQLQEAAACGLPVLLTNVELGLGCEE +LQWLLQREQLSPPQVQPGFCLYLSTTLSLCAMEKVLGCELLKGLNVLDLGLNMEILEEQMLHEILCREYPELETRWQDLKIRALDTCKAVEAAEERLLTM +LLFQNPKRQKPAKFLRNIVRAQGKLCQLRAHCEELEGQKLQEMVLWAPYRPVVWHGMAMVKALSQLQNLLPLFCMSPENWLAVTKQALDSMKPREINHGE +DLASHLLQLRAHLTRQLLGSTVTALGLTQVPLVGALGALALLQATGKASELERLALWPGLAASPSTVHSKPVSDVARPAWLGPKAWHECEMLELLPPFVG +LCASLAGHSSAWQAYLSLSSTVLGPAPGPGPEPLSLLQKLILWRVLRPECLAGALADFTTSLLGRPLDENTYAPTMPFKHSQATQPMLILLPPPGHPSAT +LHPLTVIQKLAAKYQQGQKQLQVIALGSEAWDPVSVVVSTLSQAMYEGHWLVLDNCHLMPHWPKELLQLLLELLGRAKVVADLESEQLLDQPESRNVSTV +HRDFRLWLIVPAESSASLPAVLTQHSMPVFWNQSLELGHVLIDSVELAQQVLYMQPPTQALPLLLLHGLLLHRQLYGTRLQAHRGRWSQVTLTQVLQTQD +QLWASLSNPRAAMQELAASVFYGGPLGDTEDREALISLTQACLSPSSGSWVQPHTPQSLLATLMPLPELRELDAMAECKAQMHLLPSPPEPRLCGLSEGP +QAWLLRRQSRALLSALQRSSPVWVPESRRGAQLAERRLRQRLVQVNRRLESLQDLLTHVIRQDESDAPWSVLGPNARRPLEGVLETEALELSQLVGTLQR +DLDCLLQQLKGAPPCPSRRCAAVAHALWTGRLPLPWRPHAPAGPQPPWHWLRQLSRRGQLLVRYLGVGADASSDVPERVFHLSAFRHPRRLLLALRGEAA +LDQNVPSSNFPGSRGSVSSQLQYKRLEMNSNPLHFRVENGPNPTVPERGLLLIGLQVLHAEWDPIAGALQDSPSSQPSPLPPVSISTQAPGTSDLPAPAD +LTVYSCPVYMGGPLGTAKLQSRNIVMHLPLPTKLTPNTCVQRRVHVCSPPLS* +>line24819 NM_001004702 WILDTYPE +MQLVLLLMFLLVFIGNTAPAFSVTLESMDIPQNITEFFMLGLSQNSEVQRVLFVVFLLIYVVTVCGNMLIVVTITSSPTLASPVYFFLANLSFIDTFYSS +SMAPKLIADSLYEGRTISYECCMAQLFGAHFLGGVEIILLTVMAYDRYVAICKPLHNTTIMTRHLCAMLVGVAWLGGFLHSLVQLLLVLWLPFCGPNVIN +HFACDLYPLLEVACTNTYVIGLLVVANSGLICLLNFLMLAASYIVILYSLRSHSADGRCKALSTCGAHFIVVALFFVPCIFTYVHPFSTLPIDKNMALFY +GILTPMLNPLIYTLRNEEVKNAMRKLFTW* +>line24819 NM_001004702 c.169_177del p.L57_I59del protein-altering (position 57-59 changed from LLI to ) +MQLVLLLMFLLVFIGNTAPAFSVTLESMDIPQNITEFFMLGLSQNSEVQRVLFVVFYVVTVCGNMLIVVTITSSPTLASPVYFFLANLSFIDTFYSSSMA +PKLIADSLYEGRTISYECCMAQLFGAHFLGGVEIILLTVMAYDRYVAICKPLHNTTIMTRHLCAMLVGVAWLGGFLHSLVQLLLVLWLPFCGPNVINHFA +CDLYPLLEVACTNTYVIGLLVVANSGLICLLNFLMLAASYIVILYSLRSHSADGRCKALSTCGAHFIVVALFFVPCIFTYVHPFSTLPIDKNMALFYGIL +TPMLNPLIYTLRNEEVKNAMRKLFTW* +>line24924 NM_001013358 WILDTYPE +MQRSNHTVTEFILLGFTTDPGMQLGLFVVFLGVYSLTVVGNSTLIVLICNDSCLHTPMYFFTGNLSFLDLWYSSVYTPKILVTCISEDKSISFAGCLCQF +FFSAGLAYSECYLLAAVAYDRYVAISKPLLYAQAMSIKLCALLVAVSYCGGFINSSIITKKTFSFNFCRENIIDDFFCDLLPLVELACGEKGGYKIMMYF +LLASNVICPAVLILASYLFIITSVLRISSSKGYLKAFSTCSSHLTSVTLYYGSILYIYALPRSSYSFDMDKIVSTFYTVVFPMLNLMIYSLRNKDVKEAL +KKLLP* +>line24924 NM_001013358 c.585_586GT p.I196F protein-altering (position 196 changed from I to F) +MQRSNHTVTEFILLGFTTDPGMQLGLFVVFLGVYSLTVVGNSTLIVLICNDSCLHTPMYFFTGNLSFLDLWYSSVYTPKILVTCISEDKSISFAGCLCQF +FFSAGLAYSECYLLAAVAYDRYVAISKPLLYAQAMSIKLCALLVAVSYCGGFINSSIITKKTFSFNFCRENIIDDFFCDLLPLVELACGEKGGYKFMMYF +LLASNVICPAVLILASYLFIITSVLRISSSKGYLKAFSTCSSHLTSVTLYYGSILYIYALPRSSYSFDMDKIVSTFYTVVFPMLNLMIYSLRNKDVKEAL +KKLLP* +>line24982 NM_001079692 WILDTYPE +MESTSQDRRATHVITIKPNETVLTAFPYRPHSSLLDFLKGEPRVLGATQILLALIIVGFGTIFALNYIGFSQRLPLVVLTGYPFWGALIGQGVTGMNVIS +SLVAITGITFTILSYRHQDKYCQMPSFEEICVFSRTLFIVLFFLPSDVTQNSEQPAPEENDQLQFVLQEEFSSDDSTTNAQSVIFGGYAFFKLTLSRSPL +VSQPGNKGREFVPDEQKQSILPSPKFSEEEIEPLPPTLEKKPSENMSIQLDSTFKQMKDEDLQSAIVQPSQMQTKLLQDQAASLQVFPSHSALKLEDISP +EDLPSQALPVEGLSEQTMPSKSTSSHVKQSSNLTANDLPPQGILSQDTSSQDMLFHDMTSQDMQSLDMLSQDTPSHAMPPQDIPSQDMLSQALSAHAILP +EASTSHIVQFPEIQHLLQQPPDLQPENTEPQNQQILQMSYQDIRSEVMEETKEWKSEEELHRRKSSRRHSLNQQTKALQYLRRHSLDVQAKGQKSSKRHS +LDQQSKGWQSPKQKSLDQQIKDWLSPKRHSVDKQAQLNQTKEQLPDQQAEDQQAKGEQYPEGQSKDGQVKDQQTDKEQNSKKQTQDQQTEDQPAQEKKSP +KGQFQNVQAEGQQAQVEKVPKLLCQDSESQIQQYQFWQFHKGNLQAGQPRTVNLLAKNPLTG* +>line24982 NM_001079692 c.167_168del p.I56Sfs*9 protein-altering (position 56-662 changed from IVGFGTIFALNYIGFSQRLPLVVLTGYPFWGALIGQGVTGMNVISSLVAITGITFTILSYRHQDKYCQMPSFEEICVFSRTLFIVLFFLPSDVTQNSEQPAPEENDQLQFVLQEEFSSDDSTTNAQSVIFGGYAFFKLTLSRSPLVSQPGNKGREFVPDEQKQSILPSPKFSEEEIEPLPPTLEKKPSENMSIQLDSTFKQMKDEDLQSAIVQPSQMQTKLLQDQAASLQVFPSHSALKLEDISPEDLPSQALPVEGLSEQTMPSKSTSSHVKQSSNLTANDLPPQGILSQDTSSQDMLFHDMTSQDMQSLDMLSQDTPSHAMPPQDIPSQDMLSQALSAHAILPEASTSHIVQFPEIQHLLQQPPDLQPENTEPQNQQILQMSYQDIRSEVMEETKEWKSEEELHRRKSSRRHSLNQQTKALQYLRRHSLDVQAKGQKSSKRHSLDQQSKGWQSPKQKSLDQQIKDWLSPKRHSVDKQAQLNQTKEQLPDQQAEDQQAKGEQYPEGQSKDGQVKDQQTDKEQNSKKQTQDQQTEDQPAQEKKSPKGQFQNVQAEGQQAQVEKVPKLLCQDSESQIQQYQFWQFHKGNLQAGQPRTVNLLAKNPLTG to SGLWNYICT) +MESTSQDRRATHVITIKPNETVLTAFPYRPHSSLLDFLKGEPRVLGATQILLALISGLWNYICT* +>line24985 NM_023945 WILDTYPE +MDSSTAHSPVFLVFPPEITASEYESTELSATTFSTQSPLQKLFARKMKILGTIQILFGIMTFSFGVIFLFTLLKPYPRFPFIFLSGYPFWGSVLFINSGA +FLIAVKRKTTETLIILSRIMNFLSALGAIAGIILLTFGFILDQNYICGYSHQNSQCKAVTVLFLGILITLMTFSIIELFISLPFSILGCHSEDCDCEQCC +* +>line24985 NM_023945 c.97delT p.S34Qfs*13 protein-altering (position 34-200 changed from STQSPLQKLFARKMKILGTIQILFGIMTFSFGVIFLFTLLKPYPRFPFIFLSGYPFWGSVLFINSGAFLIAVKRKTTETLIILSRIMNFLSALGAIAGIILLTFGFILDQNYICGYSHQNSQCKAVTVLFLGILITLMTFSIIELFISLPFSILGCHSEDCDCEQCC to QLKAPCKNYLLEK) +MDSSTAHSPVFLVFPPEITASEYESTELSATTFQLKAPCKNYLLEK* +>line25112 NM_001130144 WILDTYPE +MPGPRGAAGGLAPEMRGAGAAGLLALLLLLLLLLLGLGGRVEGGPAGERGAGGGGALARERFKVVFAPVICKRTCLKGQCRDSCQQGSNMTLIGENGHST +DTLTGSGFRVVVCPLPCMNGGQCSSRNQCLCPPDFTGRFCQVPAGGAGGGTGGSGPGLSRTGALSTGALPPLAPEGDSVASKHAIYAVQVIADPPGPGEG +PPAQHAAFLVPLGPGQISAEVQAPPPVVNVRVHHPPEASVQVHRIESSNAESAAPSQHLLPHPKPSHPRPPTQKPLGRCFQDTLPKQPCGSNPLPGLTKQ +EDCCGSIGTAWGQSKCHKCPQLQYTGVQKPGPVRGEVGADCPQGYKRLNSTHCQDINECAMPGVCRHGDCLNNPGSYRCVCPPGHSLGPSRTQCIADKPE +EKSLCFRLVSPEHQCQHPLTTRLTRQLCCCSVGKAWGARCQRCPTDGTAAFKEICPAGKGYHILTSHQTLTIQGESDFSLFLHPDGPPKPQQLPESPSQA +PPPEDTEEERGVTTDSPVSEERSVQQSHPTATTTPARPYPELISRPSPPTMRWFLPDLPPSRSAVEIAPTQVTETDECRLNQNICGHGECVPGPPDYSCH +CNPGYRSHPQHRYCVDVNECEAEPCGPGRGICMNTGGSYNCHCNRGYRLHVGAGGRSCVDLNECAKPHLCGDGGFCINFPGHYKCNCYPGYRLKASRPPV +CEDIDECRDPSSCPDGKCENKPGSFKCIACQPGYRSQGGGACRDVNECAEGSPCSPGWCENLPGSFRCTCAQGYAPAPDGRSCLDVDECEAGDVCDNGIC +SNTPGSFQCQCLSGYHLSRDRSHCEDIDECDFPAACIGGDCINTNGSYRCLCPQGHRLVGGRKCQDIDECSQDPSLCLPHGACKNLQGSYVCVCDEGFTP +TQDQHGCEEVEQPHHKKECYLNFDDTVFCDSVLATNVTQQECCCSLGAGWGDHCEIYPCPVYSSAEFHSLCPDGKGYTQDNNIVNYGIPAHRDIDECMLF +GSEICKEGKCVNTQPGYECYCKQGFYYDGNLLECVDVDECLDESNCRNGVCENTRGGYRCACTPPAEYSPAQRQCLSPEEMDVDECQDPAACRPGRCVNL +PGSYRCECRPPWVPGPSGRDCQLPESPAERAPERRDVCWSQRGEDGMCAGPLAGPALTFDDCCCRQGRGWGAQCRPCPPRGAGSHCPTSQSESNSFWDTS +PLLLGKPPRDEDSSEEDSDECRCVSGRCVPRPGGAVCECPGGFQLDASRARCVDIDECRELNQRGLLCKSERCVNTSGSFRCVCKAGFARSRPHGACVPQ +RRR* +>line25112 NM_001130144 c.105_106insCTGCTG p.L35_G36insLL protein-altering (position 35-36 has insertion LL) +MPGPRGAAGGLAPEMRGAGAAGLLALLLLLLLLLLLLGLGGRVEGGPAGERGAGGGGALARERFKVVFAPVICKRTCLKGQCRDSCQQGSNMTLIGENGH +STDTLTGSGFRVVVCPLPCMNGGQCSSRNQCLCPPDFTGRFCQVPAGGAGGGTGGSGPGLSRTGALSTGALPPLAPEGDSVASKHAIYAVQVIADPPGPG +EGPPAQHAAFLVPLGPGQISAEVQAPPPVVNVRVHHPPEASVQVHRIESSNAESAAPSQHLLPHPKPSHPRPPTQKPLGRCFQDTLPKQPCGSNPLPGLT +KQEDCCGSIGTAWGQSKCHKCPQLQYTGVQKPGPVRGEVGADCPQGYKRLNSTHCQDINECAMPGVCRHGDCLNNPGSYRCVCPPGHSLGPSRTQCIADK +PEEKSLCFRLVSPEHQCQHPLTTRLTRQLCCCSVGKAWGARCQRCPTDGTAAFKEICPAGKGYHILTSHQTLTIQGESDFSLFLHPDGPPKPQQLPESPS +QAPPPEDTEEERGVTTDSPVSEERSVQQSHPTATTTPARPYPELISRPSPPTMRWFLPDLPPSRSAVEIAPTQVTETDECRLNQNICGHGECVPGPPDYS +CHCNPGYRSHPQHRYCVDVNECEAEPCGPGRGICMNTGGSYNCHCNRGYRLHVGAGGRSCVDLNECAKPHLCGDGGFCINFPGHYKCNCYPGYRLKASRP +PVCEDIDECRDPSSCPDGKCENKPGSFKCIACQPGYRSQGGGACRDVNECAEGSPCSPGWCENLPGSFRCTCAQGYAPAPDGRSCLDVDECEAGDVCDNG +ICSNTPGSFQCQCLSGYHLSRDRSHCEDIDECDFPAACIGGDCINTNGSYRCLCPQGHRLVGGRKCQDIDECSQDPSLCLPHGACKNLQGSYVCVCDEGF +TPTQDQHGCEEVEQPHHKKECYLNFDDTVFCDSVLATNVTQQECCCSLGAGWGDHCEIYPCPVYSSAEFHSLCPDGKGYTQDNNIVNYGIPAHRDIDECM +LFGSEICKEGKCVNTQPGYECYCKQGFYYDGNLLECVDVDECLDESNCRNGVCENTRGGYRCACTPPAEYSPAQRQCLSPEEMDVDECQDPAACRPGRCV +NLPGSYRCECRPPWVPGPSGRDCQLPESPAERAPERRDVCWSQRGEDGMCAGPLAGPALTFDDCCCRQGRGWGAQCRPCPPRGAGSHCPTSQSESNSFWD +TSPLLLGKPPRDEDSSEEDSDECRCVSGRCVPRPGGAVCECPGGFQLDASRARCVDIDECRELNQRGLLCKSERCVNTSGSFRCVCKAGFARSRPHGACV +PQRRR* +>line25136 NM_024650 WILDTYPE +MGSRCRAWAWTRAWALAEFQARAEEGAAAAAAAAGGYPSTGRCRCSLRGMEGTAVAVFEILRFLIIHWKCDIDVSKGALLEGQLVISIEGLNSKHQANAL +HCVTTRWSLTLLPRPECSGAVSAHCNLHLPGSSDSHASVPRVAGITDAHHHAWLIMVASAGSLFGGMVLKKFLKEIQSILPGISAKLTWTSEEGSYSQDM +TGVTPFQMIFEVDEKPRTLMTDCLVIKHFLRKIIMVHPKVRFHFSVKVNGILSTEIFGVENEPTLNLGNGIALLVDSQHYVRPNFGTIESHCSRIHPVLG +HPVMLFIPEDVAGMDLLGELILTPAAALCPSPKVSSNQLNRISSVSIFLYGPLGLPLILSTWEQPMTTFFKDTSSLVDWKKYHLCMIPNLDLNLDRDLVL +PDVSYQVESSEEDQSQTMDPQGQTLLLFLFVDFHSAFPVQQMEIWGVYTLLTTHLNAILVESHSVVQGSIQFTVDKVLEQHHQAAKAQQKLQASLSVAVN +SIMSILTGSTRSSFRKMCLQTLQAADTQEFRTKLHKVFREITQHQFLHHCSCEVKQQLTLEKKDSAQGTEDAPDNSSLELLADTSGQAENKRLKRGSPRI +EEMRALRSARAPSPSEAAPRRPEATAAPLTPRGREHREAHGRALAPGRASLGSRLEDVLWLQEVSNLSEWLSPSPGP* +>line25136 NM_024650 c.77_78insGGC p.A34_G35insA protein-altering (position 34-35 has insertion A) +MGSRCRAWAWTRAWALAEFQARAEEGAAAAAAAAAGGYPSTGRCRCSLRGMEGTAVAVFEILRFLIIHWKCDIDVSKGALLEGQLVISIEGLNSKHQANA +LHCVTTRWSLTLLPRPECSGAVSAHCNLHLPGSSDSHASVPRVAGITDAHHHAWLIMVASAGSLFGGMVLKKFLKEIQSILPGISAKLTWTSEEGSYSQD +MTGVTPFQMIFEVDEKPRTLMTDCLVIKHFLRKIIMVHPKVRFHFSVKVNGILSTEIFGVENEPTLNLGNGIALLVDSQHYVRPNFGTIESHCSRIHPVL +GHPVMLFIPEDVAGMDLLGELILTPAAALCPSPKVSSNQLNRISSVSIFLYGPLGLPLILSTWEQPMTTFFKDTSSLVDWKKYHLCMIPNLDLNLDRDLV +LPDVSYQVESSEEDQSQTMDPQGQTLLLFLFVDFHSAFPVQQMEIWGVYTLLTTHLNAILVESHSVVQGSIQFTVDKVLEQHHQAAKAQQKLQASLSVAV +NSIMSILTGSTRSSFRKMCLQTLQAADTQEFRTKLHKVFREITQHQFLHHCSCEVKQQLTLEKKDSAQGTEDAPDNSSLELLADTSGQAENKRLKRGSPR +IEEMRALRSARAPSPSEAAPRRPEATAAPLTPRGREHREAHGRALAPGRASLGSRLEDVLWLQEVSNLSEWLSPSPGP* +>line25150 NM_001166102 WILDTYPE +MLATRRLLGWSLPARTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRGDWYKTKEILLKGPDWILGEIKTSGLRGRGGAGFPTGLKWSFMNKPSDGR +PKYLVVNADEGEPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRGEFYNEASNLQVAIREAYEAGLIGKNACGSGYDFDVFVVRGAGAYICGEE +TALIESIEGKQGKPRLKPPFPADVGVFGCPTTVANVETVAVSPTICRRGGTWFAGFGRERNSGTKLFNISGHVNHPCTVEEEMSVPLKELIEKHAGGVTG +GWDNLLAVIPGGSSTPLIPKSVCETVLMDFDALVQAQTGLGTAAVIVMDRSTDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFVRGDARPAEI +DSLWEISKQIEGHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS* +>line25150 NM_001166102 c.701_702TT p.A234V protein-altering (position 234 changed from A to V) +MLATRRLLGWSLPARTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRGDWYKTKEILLKGPDWILGEIKTSGLRGRGGAGFPTGLKWSFMNKPSDGR +PKYLVVNADEGEPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRGEFYNEASNLQVAIREAYEAGLIGKNACGSGYDFDVFVVRGAGAYICGEE +TALIESIEGKQGKPRLKPPFPADVGVFGCPTTVVNVETVAVSPTICRRGGTWFAGFGRERNSGTKLFNISGHVNHPCTVEEEMSVPLKELIEKHAGGVTG +GWDNLLAVIPGGSSTPLIPKSVCETVLMDFDALVQAQTGLGTAAVIVMDRSTDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFVRGDARPAEI +DSLWEISKQIEGHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS* +>line25171 NM_002180 WILDTYPE +MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQ +LATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAV +LFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLCCAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDI +DQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGD +HKQLPPTTVSHKAALAGLSLSLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAATEETGVPLLLVDTAGCGLFE +LEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVA +VTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSSHAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGK +SLASEAPSQPSLNGGSPEGVESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFITVSKRAPRPRAALGPPAGTG +GPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQRVRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFA +KCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGSLDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT* +>line25171 NM_002180 c.445_449del p.K149Sfs*30 protein-altering (position 149-993 changed from KKALIALKKYHSGPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLCCAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDIDQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSLSLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAATEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVAVTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSSHAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGVESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFITVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQRVRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFAKCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGSLDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT to SPDCSKEVSFWPSLLTHRSALWQICSQSCQ) +MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQ +LATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLANDVTYRRLSPDCSKEVSFWPSLLTHRSALWQICSQSCQ* +>line25173 NM_002180 WILDTYPE +MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQ +LATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAV +LFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLCCAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDI +DQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGD +HKQLPPTTVSHKAALAGLSLSLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAATEETGVPLLLVDTAGCGLFE +LEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVA +VTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSSHAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGK +SLASEAPSQPSLNGGSPEGVESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFITVSKRAPRPRAALGPPAGTG +GPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQRVRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFA +KCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGSLDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT* +>line25173 NM_002180 c.2315_2316AT p.S772Y protein-altering (position 772 changed from S to Y) +MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQ +LATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAV +LFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLCCAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDI +DQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGD +HKQLPPTTVSHKAALAGLSLSLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAATEETGVPLLLVDTAGCGLFE +LEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVA +VTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSSHAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGK +SLASEAPSQPSLNGGSPEGVESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSYGEGKRRFITVSKRAPRPRAALGPPAGTG +GPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQRVRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFA +KCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGSLDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT* +>line25340 NM_001346413 WILDTYPE +MSEQTPAEAGAAGAREDACRDYQSSLEDLTFNSKPHINMLTILAEENLPFAKEIVSLIEAQTAKAPSSEKLPVMYLMDSIVKNVGREYLTAFTKNLVATF +ICVFEKVDENTRKSLFKLRSTWDEIFPLKKLYALDVRVNSLDPAWPIKPLPPNVNTSSIHVNPKFLNKSPEEPSTPGTVVSSPSISTPPIVPDIQKNLTQ +EQLIRQQLLAKQKQLLELQQKKLELELEQAKAQLAVSLSVQQETSNLGPGSAPSKLHVSQIPPMAVKAPHQVPVQSEKSRPGPSLQIQDLKGTNRDPRLN +RISQHSHGKDQSHRKEFLMNTLNQSDTKTSKTIPSEKLNSSKQEKSKSGEKITKKELDQLDSKSKSKSKSPSPLKNKLSHTKDLKNQESESMRLSDMNKR +DPRLKKHLQDKTDGKDDDVKEKRKTAEKKDKDEHMKSSEHRLAGSRNKIINGIVQKQDTITEESEKQGTKPGRSSTRKRSRSRSPKSRSPIIHSPKRRDR +RSPKRRQRSMSPTSTPKAGKIRQSGAKQSHMEEFTPPSREDRNAKRSTKQDIRDPRRMKKTEEERPQETTNQHSTKSGTEPKENVENWQSSKSAKRWKSG +WEENKSLQQVDEHSKPPHLRHRESWSSTKGILSPRAPKQQQHRLSVDANLQIPKELTLASKRELLQKTSERLASGEITQDDFLVVVHQIRQLFQYQEGKH +RCNVRDSPTEENKGGLKKKPLLSDAELTYYEHKAKLKRTQVQHSFPRLDLLDPDIFDYPLTDALLSGIECEPSKSKHASRNSGAQFDRKEQFSERARRLS +PISGSRTYAENLSPHEGRRRHDEQVSAKGVREEQRSPFNDRFPLKRPRYEDSDKPFVDSPASRFAGLDTNQRLTALAEDRPLFDGPSRPSVARDGPTKMI +FEGPNKLSPRIDGPPTPASLRFDGSPGQMGGGGPLRFEGPQGQLGGGCPLRFEGPPGPVGTPLRFEGPIGQAGGGGFRFEGSPGLRFEGSPGGLRFEGPG +GQPVGGLRFEGHRGQPVGGLRFEGPHGQPVGGLRFDNPRGQPVGGLRFEGGHGPSGAAIRFDGPHGQPGGGIRFEGPLLQQGVGMRFEGPHGQSVAGLRF +EGQHNQLGGNLRFEGPHGQPGVGIRFEGPLVQQGGGMRFEGPSVPGGGLRIEGPLGQGGPRFEGCHALRFDGQPGQPSLLPRFDGLHGQPGPRFERTPGQ +PGPQRFDGPPGQQVQPRFDGVPQRFDGPQHQQASRFDIPLGLQGTRFDNHPSQRLESVSFNQTGPYNDPPGNAFNAPSQGLQFQRHEQIFDSPQGPNFNG +PHGPGNQSFSNPLNRASGHYFDEKNLQSSQFGNFGNIPAPMTVGNIQASQQVLSGVAQPVAFGQGQQFLPVHPQNPGFVQNPSGALPKAYPDNHLSQVDV +NELFSKLLKTGILKLSQTDSATTQVSEVTAQPPPEEEEDQNEDQDVPDLTNFTVEELKQRYDSVINRLYTGIQCYSCGMRFTTSQTDVYADHLDWHYRQN +RTEKDVSRKVTHRRWYYSLTDWIEFEEIADLEERAKSQFFEKVHEEVVLKTQEAAKEKEFQSVPAGPAGAVESCEICQEQFEQYWDEEEEEWHLKNAIRV +DGKIYHPSCYEDYQNTSSFDCTPSPSKTPVENPLNIMLNIVKNELQEPCDSPKVKEERIDTPPACTEESIATPSEIKTENDTVESV* +>line25340 NM_001346413 c.2923_2924AA p.G975N protein-altering (position 975 changed from G to N) +MSEQTPAEAGAAGAREDACRDYQSSLEDLTFNSKPHINMLTILAEENLPFAKEIVSLIEAQTAKAPSSEKLPVMYLMDSIVKNVGREYLTAFTKNLVATF +ICVFEKVDENTRKSLFKLRSTWDEIFPLKKLYALDVRVNSLDPAWPIKPLPPNVNTSSIHVNPKFLNKSPEEPSTPGTVVSSPSISTPPIVPDIQKNLTQ +EQLIRQQLLAKQKQLLELQQKKLELELEQAKAQLAVSLSVQQETSNLGPGSAPSKLHVSQIPPMAVKAPHQVPVQSEKSRPGPSLQIQDLKGTNRDPRLN +RISQHSHGKDQSHRKEFLMNTLNQSDTKTSKTIPSEKLNSSKQEKSKSGEKITKKELDQLDSKSKSKSKSPSPLKNKLSHTKDLKNQESESMRLSDMNKR +DPRLKKHLQDKTDGKDDDVKEKRKTAEKKDKDEHMKSSEHRLAGSRNKIINGIVQKQDTITEESEKQGTKPGRSSTRKRSRSRSPKSRSPIIHSPKRRDR +RSPKRRQRSMSPTSTPKAGKIRQSGAKQSHMEEFTPPSREDRNAKRSTKQDIRDPRRMKKTEEERPQETTNQHSTKSGTEPKENVENWQSSKSAKRWKSG +WEENKSLQQVDEHSKPPHLRHRESWSSTKGILSPRAPKQQQHRLSVDANLQIPKELTLASKRELLQKTSERLASGEITQDDFLVVVHQIRQLFQYQEGKH +RCNVRDSPTEENKGGLKKKPLLSDAELTYYEHKAKLKRTQVQHSFPRLDLLDPDIFDYPLTDALLSGIECEPSKSKHASRNSGAQFDRKEQFSERARRLS +PISGSRTYAENLSPHEGRRRHDEQVSAKGVREEQRSPFNDRFPLKRPRYEDSDKPFVDSPASRFAGLDTNQRLTALAEDRPLFDGPSRPSVARDGPTKMI +FEGPNKLSPRIDGPPTPASLRFDGSPGQMGGGGPLRFEGPQGQLGGGCPLRFEGPPGPVGTPLRFEGPIGQAGGNGFRFEGSPGLRFEGSPGGLRFEGPG +GQPVGGLRFEGHRGQPVGGLRFEGPHGQPVGGLRFDNPRGQPVGGLRFEGGHGPSGAAIRFDGPHGQPGGGIRFEGPLLQQGVGMRFEGPHGQSVAGLRF +EGQHNQLGGNLRFEGPHGQPGVGIRFEGPLVQQGGGMRFEGPSVPGGGLRIEGPLGQGGPRFEGCHALRFDGQPGQPSLLPRFDGLHGQPGPRFERTPGQ +PGPQRFDGPPGQQVQPRFDGVPQRFDGPQHQQASRFDIPLGLQGTRFDNHPSQRLESVSFNQTGPYNDPPGNAFNAPSQGLQFQRHEQIFDSPQGPNFNG +PHGPGNQSFSNPLNRASGHYFDEKNLQSSQFGNFGNIPAPMTVGNIQASQQVLSGVAQPVAFGQGQQFLPVHPQNPGFVQNPSGALPKAYPDNHLSQVDV +NELFSKLLKTGILKLSQTDSATTQVSEVTAQPPPEEEEDQNEDQDVPDLTNFTVEELKQRYDSVINRLYTGIQCYSCGMRFTTSQTDVYADHLDWHYRQN +RTEKDVSRKVTHRRWYYSLTDWIEFEEIADLEERAKSQFFEKVHEEVVLKTQEAAKEKEFQSVPAGPAGAVESCEICQEQFEQYWDEEEEEWHLKNAIRV +DGKIYHPSCYEDYQNTSSFDCTPSPSKTPVENPLNIMLNIVKNELQEPCDSPKVKEERIDTPPACTEESIATPSEIKTENDTVESV* +>line25479 NM_032427 WILDTYPE +MGDTAPPQAPAGGLGGASGAGLLGGGSVTPRVHSAIVERLRARIAVCRQHHLSCEGRYERGRAESSDRERESTLQLLSLVQHGQGARKAGKHTKATATAA +TTTAPPPPPAAPPAASQAAATAAPPPPPDYHHHHQQHLLNSSNNGGSGGINGEQQPPASTPGDQRNSALIALQGSLKRKQVVNLSPANSKRPNGFVDNSF +LDIKRIRVGENLSAGQGGLQINNGQSQIMSGTLPMSQAPLRKTNTLPSHTHSPGNGLFNMGLKEVKKEPGETLSCSKHMDGQMTQENIFPNRYGDDPGEQ +LMDPELQELFNELTNISVPPMSDLELENMINATIKQDDPFNIDLGQQSQRSTPRPSLPMEKIVIKSEYSPGLTQGPSGSPQLRPPSAGPAFSMANSALST +SSPIPSVPQSQAQPQTGSGASRALPSWQEVSHAQQLKQIAANRQQHARMQQHQQQHQPTNWSALPSSAGPSPGPFGQEKIPSPSFGQQTFSPQSSPMPGV +AGGSGQSKVMANYMYKAGPSAQGGHLDVLMQQKPQDLSRSFINNPHPAMEPRQGNTKPLFHFNSDQANQQMPSVLPSQNKPSLLHYTQQQQQQQQQQQQQ +QQQQQQQQQQQQQQQQQQQQQSSISAQQQQQQQSSISAQQQQQQQQQQQQQQQQQQQQQQQQQQQPSSQPAQSLPSQPLLRSPLPLQQKLLLQQMQNQPI +AGMGYQVSQQQRQDQHSVVGQNTGPSPSPNPCSNPNTGSGYMNSQQSLLNQQLMGKKQTLQRQIMEQKQQLLLQQQMLADAEKIAPQDQINRHLSRPPPD +YKDQRRNVGNMQPTAQYSGGSSTISLNSNQALANPVSTHTILTPNSSLLSTSHGTRMPSLSTAVQNMGMYGNLPCNQPNTYSVTSGMNQLTQQRNPKQLL +ANQNNPMMPRPPTLGPSNNNNVATFGAGSVGNSQQLRPNLTHSMASMPPQRTSNVMITSNTTAPNWASQEGTSKQQEALTSAGVRFPTGTPAAYTPNQSL +QQAVGSQQFSQRAVAPPNQLTPAVQMRPMNQMSQTLNGQTMGPLRGLNLRPNQLSTQILPNLNQSGTGLNQSRTGINQPPSLTPSNFPSPNQSSRAFQGT +DHSSDLAFDFLSQQNDNMGPALNSDADFIDSLLKTEPGNDDWMKDINLDEILGNNS* +>line25479 NM_032427 c.1812_1820del p.Q619_Q621del protein-altering (position 619-621 changed from QQQ to ) +MGDTAPPQAPAGGLGGASGAGLLGGGSVTPRVHSAIVERLRARIAVCRQHHLSCEGRYERGRAESSDRERESTLQLLSLVQHGQGARKAGKHTKATATAA +TTTAPPPPPAAPPAASQAAATAAPPPPPDYHHHHQQHLLNSSNNGGSGGINGEQQPPASTPGDQRNSALIALQGSLKRKQVVNLSPANSKRPNGFVDNSF +LDIKRIRVGENLSAGQGGLQINNGQSQIMSGTLPMSQAPLRKTNTLPSHTHSPGNGLFNMGLKEVKKEPGETLSCSKHMDGQMTQENIFPNRYGDDPGEQ +LMDPELQELFNELTNISVPPMSDLELENMINATIKQDDPFNIDLGQQSQRSTPRPSLPMEKIVIKSEYSPGLTQGPSGSPQLRPPSAGPAFSMANSALST +SSPIPSVPQSQAQPQTGSGASRALPSWQEVSHAQQLKQIAANRQQHARMQQHQQQHQPTNWSALPSSAGPSPGPFGQEKIPSPSFGQQTFSPQSSPMPGV +AGGSGQSKVMANYMYKAGPSAQGGHLDVLMQQKPQDLSRSFINNPHPAMEPRQGNTKPLFHFNSDQANQQMPSVLPSQNKPSLLHYTQQQQQQQQQQQQQ +QQQQQQQQQQQQQQQQQQSSISAQQQQQQQSSISAQQQQQQQQQQQQQQQQQQQQQQQQQQQPSSQPAQSLPSQPLLRSPLPLQQKLLLQQMQNQPIAGM +GYQVSQQQRQDQHSVVGQNTGPSPSPNPCSNPNTGSGYMNSQQSLLNQQLMGKKQTLQRQIMEQKQQLLLQQQMLADAEKIAPQDQINRHLSRPPPDYKD +QRRNVGNMQPTAQYSGGSSTISLNSNQALANPVSTHTILTPNSSLLSTSHGTRMPSLSTAVQNMGMYGNLPCNQPNTYSVTSGMNQLTQQRNPKQLLANQ +NNPMMPRPPTLGPSNNNNVATFGAGSVGNSQQLRPNLTHSMASMPPQRTSNVMITSNTTAPNWASQEGTSKQQEALTSAGVRFPTGTPAAYTPNQSLQQA +VGSQQFSQRAVAPPNQLTPAVQMRPMNQMSQTLNGQTMGPLRGLNLRPNQLSTQILPNLNQSGTGLNQSRTGINQPPSLTPSNFPSPNQSSRAFQGTDHS +SDLAFDFLSQQNDNMGPALNSDADFIDSLLKTEPGNDDWMKDINLDEILGNNS* +>line25575 NM_001136112 WILDTYPE +MAAVPRVEGVFIFLIEDSGKKKRRKNFEAMFKGILQSGLDNFVINHMLKNNVAGQTSIQTLVPNTDQKSTSVKKDNHKKKTVKMLEYLGKDVLHGVFNYL +AKHDVLTLKEEEKKKYYDTKIEDKALILVDSLRKNRVAHQMFTQTLLNMDQKITSVKPLLQIEAGPPESAESTNILKLCPREEFLRLCKKNHDEIYPIKK +REDRRRLALIICNTKFDHLPARNGAHYDIVGMKRLLQGLGYTVVDEKNLTARDMESVLRAFAARPEHKSSDSTFLVLMSHGILEGICGTAHKKKKPDVLL +YDTIFQIFNNRNCLSLKDKPKVIIVQACRGEKHGELWVRDSPASLALISSQSSENLEADSVCKIHEEKDFIAFCSSTPHNVSWRDRTRGSIFITELITCF +QKYSCCCHLMEIFRKVQKSFEVPQAKAQMPTIERATLTRDFYLFPGN* +>line25575 NM_001136112 c.67delA p.R23Gfs*20 protein-altering (position 23-447 changed from RRKNFEAMFKGILQSGLDNFVINHMLKNNVAGQTSIQTLVPNTDQKSTSVKKDNHKKKTVKMLEYLGKDVLHGVFNYLAKHDVLTLKEEEKKKYYDTKIEDKALILVDSLRKNRVAHQMFTQTLLNMDQKITSVKPLLQIEAGPPESAESTNILKLCPREEFLRLCKKNHDEIYPIKKREDRRRLALIICNTKFDHLPARNGAHYDIVGMKRLLQGLGYTVVDEKNLTARDMESVLRAFAARPEHKSSDSTFLVLMSHGILEGICGTAHKKKKPDVLLYDTIFQIFNNRNCLSLKDKPKVIIVQACRGEKHGELWVRDSPASLALISSQSSENLEADSVCKIHEEKDFIAFCSSTPHNVSWRDRTRGSIFITELITCFQKYSCCCHLMEIFRKVQKSFEVPQAKAQMPTIERATLTRDFYLFPGN to GVRILKLCSKVSFRVDWITS) +MAAVPRVEGVFIFLIEDSGKKKGVRILKLCSKVSFRVDWITS* +>line25739 NM_001271933 WILDTYPE +MAGRPLRIGDQLVLEEDYDETYIPSEQEILEFAREIGIDPIKEPELMWLAREGIVAPLPGEWKPCQDITGDIYYFNFANGQSMWDHPCDEHYRSLVIQER +AKLSTSGAIKKKKKKKEKKDKKDRDPPKSSLALGSSLAPVHVPLGGLAPLRGLVDTPPSALRGSQSVSLGSSVESGRQLGELMLPSQGLKTSAYTKGLLG +SIYEDKTALSLLGLGEETNEEDEEESDNQSVHSSSEPLRNLHLDIGALGGDFEYEESLRTSQPEEKKDVSLDSDAAGPPTPCKPSSPGADSSLSSAVGKG +RQGSGARPGLPEKEENEKSEPKICRNLVTPKADPTGSEPAKASEKEAPEDTVDAGEEGSRREEAAKEPKKKASALEEGSSDASQELEISEHMKEPQLSDS +IASDPKSFHGLDFGFRSRISEHLLDVDVLSPVLGGACRQAQQPLGIEDKDDSQSSQDELQSKQSKGLEERYHRLSPPLPHEERAQSPPRSLATEEEPPQG +PEGQPEWKEAEELGEDSAASLSLQLSLQREQAPSPPAACEKGKEQHSQAEELGPGQEEAEDPEEKVAVSPTPPVSPEVRSTEPVAPPEQLSEAALKAMEE +AVAQVLEQDQRHLLESKQEKMQQLREKLCQEEEEEILRLHQQKEQSLSSLRERLQKAIEEEEARMREEESQRLSWLRAQVQSSTQADEDQIRAEQEASLQ +KLREELESQQKAERASLEQKNRQMLEQLKEEIEASEKSEQAALNAAKEKALQQLREQLEGERKEAVATLEKEHSAELERLCSSLEAKHREVVSSLQKKIQ +EAQQKEEAQLQKCLGQVEHRVHQKSYHVAGYEHELSSLLREKRQEVEGEHERRLDKMKEEHQQVMAKAREQYEAEERKQRAELLGHLTGELERLQRAHER +ELETVRQEQHKRLEDLRRRHREQERKLQDLELDLETRAKDVKARLALLEVQEETARREKQQLLDVQRQVALKSEEATATHQQLEEAQKEHTHLLQSNQQL +REILDELQARKLKLESQVDLLQAQSQQLQKHFSSLEAEAQKKQHLLREVTVEENNASPHFEPDLHIEDLRKSLGTNQTKEVSSSLSQSKEDLYLDSLSSH +NVWHLLSAEGVALRSAKEFLVQQTRSMRRRQTALKAAQQHWRHELASAQEVAKDPPGIKALEDMRKNLEKETRHLDEMKSAMRKGHNLLKKKEEKLNQLE +SSLWEEASDEGTLGGSPTKKAVTFDLSDMDSLSSESSESFSPPHLDSTPSLTSRKIHGLSHSLRQISSQLSSVLSILDSLNPQSPPPLLASMPAQLPPRD +PKSTPTPTYYGSLARFSALSSATPTSTQWAWDSGQGPRLPSSVAQTVDDFLLEKWRKYFPSGIPLLSNSPTPLESRLGYMSASEQLRLLQHSHSQVPEAG +STTFQGIIEANRRWLERVKNDPRLPLFSSTPKPKATLSLLQLGLDEHNRVKVYRF* +>line25739 NM_001271933 c.337delA p.K116Rfs*21 protein-altering (position 116-1455 changed from KEKKDKKDRDPPKSSLALGSSLAPVHVPLGGLAPLRGLVDTPPSALRGSQSVSLGSSVESGRQLGELMLPSQGLKTSAYTKGLLGSIYEDKTALSLLGLGEETNEEDEEESDNQSVHSSSEPLRNLHLDIGALGGDFEYEESLRTSQPEEKKDVSLDSDAAGPPTPCKPSSPGADSSLSSAVGKGRQGSGARPGLPEKEENEKSEPKICRNLVTPKADPTGSEPAKASEKEAPEDTVDAGEEGSRREEAAKEPKKKASALEEGSSDASQELEISEHMKEPQLSDSIASDPKSFHGLDFGFRSRISEHLLDVDVLSPVLGGACRQAQQPLGIEDKDDSQSSQDELQSKQSKGLEERYHRLSPPLPHEERAQSPPRSLATEEEPPQGPEGQPEWKEAEELGEDSAASLSLQLSLQREQAPSPPAACEKGKEQHSQAEELGPGQEEAEDPEEKVAVSPTPPVSPEVRSTEPVAPPEQLSEAALKAMEEAVAQVLEQDQRHLLESKQEKMQQLREKLCQEEEEEILRLHQQKEQSLSSLRERLQKAIEEEEARMREEESQRLSWLRAQVQSSTQADEDQIRAEQEASLQKLREELESQQKAERASLEQKNRQMLEQLKEEIEASEKSEQAALNAAKEKALQQLREQLEGERKEAVATLEKEHSAELERLCSSLEAKHREVVSSLQKKIQEAQQKEEAQLQKCLGQVEHRVHQKSYHVAGYEHELSSLLREKRQEVEGEHERRLDKMKEEHQQVMAKAREQYEAEERKQRAELLGHLTGELERLQRAHERELETVRQEQHKRLEDLRRRHREQERKLQDLELDLETRAKDVKARLALLEVQEETARREKQQLLDVQRQVALKSEEATATHQQLEEAQKEHTHLLQSNQQLREILDELQARKLKLESQVDLLQAQSQQLQKHFSSLEAEAQKKQHLLREVTVEENNASPHFEPDLHIEDLRKSLGTNQTKEVSSSLSQSKEDLYLDSLSSHNVWHLLSAEGVALRSAKEFLVQQTRSMRRRQTALKAAQQHWRHELASAQEVAKDPPGIKALEDMRKNLEKETRHLDEMKSAMRKGHNLLKKKEEKLNQLESSLWEEASDEGTLGGSPTKKAVTFDLSDMDSLSSESSESFSPPHLDSTPSLTSRKIHGLSHSLRQISSQLSSVLSILDSLNPQSPPPLLASMPAQLPPRDPKSTPTPTYYGSLARFSALSSATPTSTQWAWDSGQGPRLPSSVAQTVDDFLLEKWRKYFPSGIPLLSNSPTPLESRLGYMSASEQLRLLQHSHSQVPEAGSTTFQGIIEANRRWLERVKNDPRLPLFSSTPKPKATLSLLQLGLDEHNRVKVYRF to RKRKTRRTETPPKVRWPWVPH) +MAGRPLRIGDQLVLEEDYDETYIPSEQEILEFAREIGIDPIKEPELMWLAREGIVAPLPGEWKPCQDITGDIYYFNFANGQSMWDHPCDEHYRSLVIQER +AKLSTSGAIKKKKKKRKRKTRRTETPPKVRWPWVPH* +>line25747 NM_001206789 WILDTYPE +MERDSHGNASPARTPSAGASPAQASPAGTPPGRASPAQASPAQASPAGTPPGRASPAQASPAGTPPGRASPGRASPAQASPAQASPARASPALASLSRSS +SGRSSSARSASVTTSPTRVYLVRATPVGAVPIRSSPARSAPATRATRESPVQFWQGHTGIRYKEQRESCPKHAVRCDGVVDCKLKSDELGCVRFDWDKSL +LKIYSGSSHQWLPICSSNWNDSYSEKTCQQLGFESAHRTTEVAHRDFANSFSILRYNSTIQESLHRSECPSQRYISLQCSHCGLRAMTGRIVGGALASDS +KWPWQVSLHFGTTHICGGTLIDAQWVLTAAHCFFVTREKVLEGWKVYAGTSNLHQLPEAASIAEIIINSNYTDEEDDYDIALMRLSKPLTLSAHIHPACL +PMHGQTFSLNETCWITGFGKTRETDDKTSPFLREVQVNLIDFKKCNDYLVYDSYLTPRMMCAGDLRGGRDSCQGDSGGPLVCEQNNRWYLAGVTSWGTGC +GQRNKPGVYTKVTEVLPWIYSKMESEVRFRKS* +>line25747 NM_001206789 c.248_262del p.Q83_A87del protein-altering (position 83-87 changed from QASPA to ) +MERDSHGNASPARTPSAGASPAQASPAGTPPGRASPAQASPAQASPAGTPPGRASPAQASPAGTPPGRASPGRASPAQASPARASPALASLSRSSSGRSS +SARSASVTTSPTRVYLVRATPVGAVPIRSSPARSAPATRATRESPVQFWQGHTGIRYKEQRESCPKHAVRCDGVVDCKLKSDELGCVRFDWDKSLLKIYS +GSSHQWLPICSSNWNDSYSEKTCQQLGFESAHRTTEVAHRDFANSFSILRYNSTIQESLHRSECPSQRYISLQCSHCGLRAMTGRIVGGALASDSKWPWQ +VSLHFGTTHICGGTLIDAQWVLTAAHCFFVTREKVLEGWKVYAGTSNLHQLPEAASIAEIIINSNYTDEEDDYDIALMRLSKPLTLSAHIHPACLPMHGQ +TFSLNETCWITGFGKTRETDDKTSPFLREVQVNLIDFKKCNDYLVYDSYLTPRMMCAGDLRGGRDSCQGDSGGPLVCEQNNRWYLAGVTSWGTGCGQRNK +PGVYTKVTEVLPWIYSKMESEVRFRKS* +>line25757 NM_000073 WILDTYPE +MEQGKGLAVLILAIILLQGTLAQSIKGNHLVKVYDYQEDGSVLLTCDAEAKNITWFKDGKMIGFLTEDKKKWNLGSNAKDPRGMYQCKGSQNKSKPLQVY +YRMCQNCIELNAATISGFLFAEIVSIFVLAVGVYFIAGQDGVRQSRASDKQTLLPNDQLYQPLKDREDDQYSHLQGNQLRRN* +>line25757 NM_000073 c.205delA p.K71Nfs*38 protein-altering (position 71-181 changed from KWNLGSNAKDPRGMYQCKGSQNKSKPLQVYYRMCQNCIELNAATISGFLFAEIVSIFVLAVGVYFIAGQDGVRQSRASDKQTLLPNDQLYQPLKDREDDQYSHLQGNQLRR to NGIWEVMPRTLEGCISVKDHRTSQNHSKCITECVRTAL) +MEQGKGLAVLILAIILLQGTLAQSIKGNHLVKVYDYQEDGSVLLTCDAEAKNITWFKDGKMIGFLTEDKKNGIWEVMPRTLEGCISVKDHRTSQNHSKCI +TECVRTALN* +>line25878 NM_022062 WILDTYPE +MMQHASPAPALTMMATQNVPPPPYQDSPQMTATAQPPSKAQAVHISAPSAAASTPVPSAPIDPQAQLEADKRAVYRHPLFPLLTLLFEKCEQATQGSECI +TSASFDVDIENFVHQQEQEHKPFFSDDPELDNLMVKAIQVLRIHLLELEKVNELCKDFCNRYITCLKTKMHSDNLLRNDLGGPYSPNQPSINLHSQDLLQ +NSPNSMSGVSNNPQGIVVPASALQQGNIAMTTVNSQVVSGGALYQPVTMVTSQGQVVTQAIPQGAIQIQNTQVNLDLTSLLDNEDKKSKNKRGVLPKHAT +NIMRSWLFQHLMHPYPTEDEKRQIAAQTNLTLLQVNNWFINARRRILQPMLDASNPDPAPKAKKIKSQHRPTQRFWPNSIAAGVLQQQGGAPGTNPDGSI +NLDNLQSLSSDSATMAMQQAMMAAHDDSLDGTEEEDEDEMEEEEEEELEEEVDELQTTNVSDLGLEHSDSLE* +>line25878 NM_022062 c.1324_1326del p.E447del protein-altering (position 447 changed from E to ) +MMQHASPAPALTMMATQNVPPPPYQDSPQMTATAQPPSKAQAVHISAPSAAASTPVPSAPIDPQAQLEADKRAVYRHPLFPLLTLLFEKCEQATQGSECI +TSASFDVDIENFVHQQEQEHKPFFSDDPELDNLMVKAIQVLRIHLLELEKVNELCKDFCNRYITCLKTKMHSDNLLRNDLGGPYSPNQPSINLHSQDLLQ +NSPNSMSGVSNNPQGIVVPASALQQGNIAMTTVNSQVVSGGALYQPVTMVTSQGQVVTQAIPQGAIQIQNTQVNLDLTSLLDNEDKKSKNKRGVLPKHAT +NIMRSWLFQHLMHPYPTEDEKRQIAAQTNLTLLQVNNWFINARRRILQPMLDASNPDPAPKAKKIKSQHRPTQRFWPNSIAAGVLQQQGGAPGTNPDGSI +NLDNLQSLSSDSATMAMQQAMMAAHDDSLDGTEEEDEDEMEEEEEELEEEVDELQTTNVSDLGLEHSDSLE* +>line25938 NM_001142276 WILDTYPE +MAATGTAAAAATGRLLLLLLVGLTAPALALAGYIEALAANAGTGFAVAEPQIAMFCGKLNMHVNIQTGKWEPDPTGTKSCFETKEEVLQYCQEMYPELQI +TNVMEANQRVSIDNWCRRDKKQCKSRFVTPFKCLVGEFVSDVLLVPEKCQFFHKERMEVCENHQHWHTVVKEACLTQGMTLYSYGMLLPCGVDQFHGTEY +VCCPQTKIIGSVSKEEEEEDEEEEEEEDEEEDYDVYKSEFPTEADLEDFTEAAVDEDDEDEEEGEEVVEDRDYYYDTFKGDDYNEENPTEPGSDGTMSDK +EITHDVKAVCSQEAMTGPCRAVMPRWYFDLSKGKCVRFIYGGCGGNRNNFESEDYCMAVCKAMIPPTPLPTNDVDVYFETSADDNEHARFQKAKEQLEIR +HRNRMDRVKKEWEEAELQAKNLPKAERQTLIQHFQAMVKALEKEAASEKQQLVETHLARVEAMLNDRRRMALENYLAALQSDPPRPHRILQALRRYVRAE +NKDRLHTIRHYQHVLAVDPEKAAQMKSQVMTHLHVIEERRNQSLSLLYKVPYVAQEIQEEIDELLQEQRADMDQFTASISETPVDVRVSSEESEEIPPFH +PFHPFPALPENEGSGVGEQDGGLIGAEEKVINSKNKVDENMVIDETLDVKEMIFNAERVGGLEEERESVGPLREDFSLSSSALIGLLVIAVAIATVIVIS +LVMLRKRQYGTISHGIVEVDPMLTPEERHLNKMQNHGYENPTYKYLEQMQI* +>line25938 NM_001142276 c.661_666del p.E226_E227del protein-altering (position 226-227 changed from EE to ) +MAATGTAAAAATGRLLLLLLVGLTAPALALAGYIEALAANAGTGFAVAEPQIAMFCGKLNMHVNIQTGKWEPDPTGTKSCFETKEEVLQYCQEMYPELQI +TNVMEANQRVSIDNWCRRDKKQCKSRFVTPFKCLVGEFVSDVLLVPEKCQFFHKERMEVCENHQHWHTVVKEACLTQGMTLYSYGMLLPCGVDQFHGTEY +VCCPQTKIIGSVSKEEEEEDEEEEEDEEEDYDVYKSEFPTEADLEDFTEAAVDEDDEDEEEGEEVVEDRDYYYDTFKGDDYNEENPTEPGSDGTMSDKEI +THDVKAVCSQEAMTGPCRAVMPRWYFDLSKGKCVRFIYGGCGGNRNNFESEDYCMAVCKAMIPPTPLPTNDVDVYFETSADDNEHARFQKAKEQLEIRHR +NRMDRVKKEWEEAELQAKNLPKAERQTLIQHFQAMVKALEKEAASEKQQLVETHLARVEAMLNDRRRMALENYLAALQSDPPRPHRILQALRRYVRAENK +DRLHTIRHYQHVLAVDPEKAAQMKSQVMTHLHVIEERRNQSLSLLYKVPYVAQEIQEEIDELLQEQRADMDQFTASISETPVDVRVSSEESEEIPPFHPF +HPFPALPENEGSGVGEQDGGLIGAEEKVINSKNKVDENMVIDETLDVKEMIFNAERVGGLEEERESVGPLREDFSLSSSALIGLLVIAVAIATVIVISLV +MLRKRQYGTISHGIVEVDPMLTPEERHLNKMQNHGYENPTYKYLEQMQI* +>line25939 NM_021978 WILDTYPE +MGSDRARKGGGGPKDFGAGLKYNSRHEKVNGLEEGVEFLPVNNVKKVEKHGPGRWVVLAAVLIGLLLVLLGIGFLVWHLQYRDVRVQKVFNGYMRITNEN +FVDAYENSNSTEFVSLASKVKDALKLLYSGVPFLGPYHKESAVTAFSEGSVIAYYWSEFSIPQHLVEEAERVMAEERVVMLPPRARSLKSFVVTSVVAFP +TDSKTVQRTQDNSCSFGLHARGVELMRFTTPGFPDSPYPAHARCQWALRGDADSVLSLTFRSFDLASCDERGSDLVTVYNTLSPMEPHALVQLCGTYPPS +YNLTFHSSQNVLLITLITNTERRHPGFEATFFQLPRMSSCGGRLRKAQGTFNSPYYPGHYPPNIDCTWNIEVPNNQHVKVRFKFFYLLEPGVPAGTCPKD +YVEINGEKYCGERSQFVVTSNSNKITVRFHSDQSYTDTGFLAEYLSYDSSDPCPGQFTCRTGRCIRKELRCDGWADCTDHSDELNCSCDAGHQFTCKNKF +CKPLFWVCDSVNDCGDNSDEQGCSCPAQTFRCSNGKCLSKSQQCNGKDDCGDGSDEASCPKVNVVTCTKHTYRCLNGLCLSKGNPECDGKEDCSDGSDEK +DCDCGLRSFTRQARVVGGTDADEGEWPWQVSLHALGQGHICGASLISPNWLVSAAHCYIDDRGFRYSDPTQWTAFLGLHDQSQRSAPGVQERRLKRIISH +PFFNDFTFDYDIALLELEKPAEYSSMVRPICLPDASHVFPAGKAIWVTGWGHTQYGGTGALILQKGEIRVINQTTCENLLPQQITPRMMCVGFLSGGVDS +CQGDSGGPLSSVEADGRIFQAGVVSWGDGCAQRNKPGVYTRLPLFRDWIKENTGV* +>line25939 NM_021978 c.544dupC p.R184Afs*51 protein-altering (position 184-855 changed from RARSLKSFVVTSVVAFPTDSKTVQRTQDNSCSFGLHARGVELMRFTTPGFPDSPYPAHARCQWALRGDADSVLSLTFRSFDLASCDERGSDLVTVYNTLSPMEPHALVQLCGTYPPSYNLTFHSSQNVLLITLITNTERRHPGFEATFFQLPRMSSCGGRLRKAQGTFNSPYYPGHYPPNIDCTWNIEVPNNQHVKVRFKFFYLLEPGVPAGTCPKDYVEINGEKYCGERSQFVVTSNSNKITVRFHSDQSYTDTGFLAEYLSYDSSDPCPGQFTCRTGRCIRKELRCDGWADCTDHSDELNCSCDAGHQFTCKNKFCKPLFWVCDSVNDCGDNSDEQGCSCPAQTFRCSNGKCLSKSQQCNGKDDCGDGSDEASCPKVNVVTCTKHTYRCLNGLCLSKGNPECDGKEDCSDGSDEKDCDCGLRSFTRQARVVGGTDADEGEWPWQVSLHALGQGHICGASLISPNWLVSAAHCYIDDRGFRYSDPTQWTAFLGLHDQSQRSAPGVQERRLKRIISHPFFNDFTFDYDIALLELEKPAEYSSMVRPICLPDASHVFPAGKAIWVTGWGHTQYGGTGALILQKGEIRVINQTTCENLLPQQITPRMMCVGFLSGGVDSCQGDSGGPLSSVEADGRIFQAGVVSWGDGCAQRNKPGVYTRLPLFRDWIKENTGV to AGALPEVLCGHLSGGFPHGLQNSTEDPGQQLQLWPARPRCGADALHHARLP) +MGSDRARKGGGGPKDFGAGLKYNSRHEKVNGLEEGVEFLPVNNVKKVEKHGPGRWVVLAAVLIGLLLVLLGIGFLVWHLQYRDVRVQKVFNGYMRITNEN +FVDAYENSNSTEFVSLASKVKDALKLLYSGVPFLGPYHKESAVTAFSEGSVIAYYWSEFSIPQHLVEEAERVMAEERVVMLPPAGALPEVLCGHLSGGFP +HGLQNSTEDPGQQLQLWPARPRCGADALHHARLP* +>line26009 NM_014823 WILDTYPE +MSGGAAEKQSSTPGSLFLSPPAPAPKNGSSSDSSVGEKLGAAAADAVTGRTEEYRRRRHTMDKDSRGAAATTTTTEHRFFRRSVICDSNATALELPGLPL +SLPQPSIPAAVPQSAPPEPHREETVTATATSQVAQQPPAAAAPGEQAVAGPAPSTVPSSTSKDRPVSQPSLVGSKEEPPPARSGSGGGSAKEPQEERSQQ +QDDIEELETKAVGMSNDGRFLKFDIEIGRGSFKTVYKGLDTETTVEVAWCELQDRKLTKSERQRFKEEAEMLKGLQHPNIVRFYDSWESTVKGKKCIVLV +TELMTSGTLKTYLKRFKVMKIKVLRSWCRQILKGLQFLHTRTPPIIHRDLKCDNIFITGPTGSVKIGDLGLATLKRASFAKSVIGTPEFMAPEMYEEKYD +ESVDVYAFGMCMLEMATSEYPYSECQNAAQIYRRVTSGVKPASFDKVAIPEVKEIIEGCIRQNKDERYSIKDLLNHAFFQEETGVRVELAEEDDGEKIAI +KLWLRIEDIKKLKGKYKDNEAIEFSFDLERDVPEDVAQEMVESGYVCEGDHKTMAKAIKDRVSLIKRKREQRQLVREEQEKKKQEESSLKQQVEQSSASQ +TGIKQLPSASTGIPTASTTSASVSTQVEPEEPEADQHQQLQYQQPSISVLSDGTVDSGQGSSVFTESRVSSQQTVSYGSQHEQAHSTGTVPGHIPSTVQA +QSQPHGVYPPSSVAQGQSQGQPSSSSLTGVSSSQPIQHPQQQGIQQTAPPQQTVQYSLSQTSTSSEATTAQPVSQPQAPQVLPQVSAGKQSTQGVSQVAP +AEPVAVAQTQATQPTTLASSVDSAHSDVASGMSDGNENVPSSSGRHEGRTTKRHYRKSVRSRSRHEKTSRPKLRILNVSNKGDRVVECQLETHNRKMVTF +KFDLDGDNPEEIATIMVNNDFILAIERESFVDQVREIIEKADEMLSEDVSVEPEGDQGLESLQGKDDYGFSGSQKLEGEFKQPIPASSMPQQIGIPTSSL +TQVVHSAGRRFIVSPVPESRLRESKVFPSEITDTVAASTAQSPGMNLSHSASSLSLQQAFSELRRAQMTEGPNTAPPNFSHTGPTFPVVPPFLSSIAGVP +TTAAATAPVPATSSPPNDISTSVIQSEVTVPTEEGIAGVATSTGVVTSGGLPIPPVSESPVLSSVVSSITIPAVVSISTTSPSLQVPTSTSEIVVSSTAL +YPSVTVSATSASAGGSTATPGPKPPAVVSQQAAGSTTVGATLTSVSTTTSFPSTASQLCIQLSSSTSTPTLAETVVVSAHSLDKTSHSSTTGLAFSLSAP +SSSSSPGAGVSSYISQPGGLHPLVIPSVIASTPILPQAAGPTSTPLLPQVPSIPPLVQPVANVPAVQQTLIHSQPQPALLPNQPHTHCPEVDSDTQPKAP +GIDDIKTLEEKLRSLFSEHSSSGAQHASVSLETSLVIESTVTPGIPTTAVAPSKLLTSTTSTCLPPTNLPLGTVALPVTPVVTPGQVSTPVSTTTSGVKP +GTAPSKPPLTKAPVLPVGTELPAGTLPSEQLPPFPGPSLTQSQQPLEDLDAQLRRTLSPEMITVTSAVGPVSMAAPTAITEAGTQPQKVSQVKEGPVLAT +SSGAGVFKMGRFQVSVAADGAQKEGKNKSEDAKSVHFESSTSESSVLSSSSPESTLVKPEPNGITIPGISSDVPESAHKTTASEAKSDTGQPTKVGRFQV +TTTANKVGRFSVSKTEDKITDTKKEGPVASPPFMDLEQAVLPAVIPKKEKPELSEPSHLNGPSSDPEAAFLSRDVDDGSGSPHSPHQLSSKSLPSQNLSQ +SLSNSFNSSYMSSDNESDIEDEDLKLELRRLRDKHLKEIQDLQSRQKHEIESLYTKLGKVPPAVIIPPAAPLSGRRRRPTKSKGSKSSRSSSLGNKSPQL +SGNLSGQSAASVLHPQQTLHPPGNIPESGQNQLLQPLKPSPSSDNLYSAFTSDGAISVPSLSAPGQGTSSTNTVGATVNSQAAQAQPPAMTSSRKGTFTD +DLHKLVDNWARDAMNLSGRRGSKGHMNYEGPGMARKFSAPGQLCISMTSNLGGSAPISAASATSLGHFTKSMCPPQQYGFPATPFGAQWSGTGGPAPQPL +GQFQPVGTASLQNFNISNLQKSISNPPGSNLRTT* +>line26009 NM_014823 c.1739delA p.K583Sfs*10 protein-altering (position 583-2134 changed from KQEESSLKQQVEQSSASQTGIKQLPSASTGIPTASTTSASVSTQVEPEEPEADQHQQLQYQQPSISVLSDGTVDSGQGSSVFTESRVSSQQTVSYGSQHEQAHSTGTVPGHIPSTVQAQSQPHGVYPPSSVAQGQSQGQPSSSSLTGVSSSQPIQHPQQQGIQQTAPPQQTVQYSLSQTSTSSEATTAQPVSQPQAPQVLPQVSAGKQSTQGVSQVAPAEPVAVAQTQATQPTTLASSVDSAHSDVASGMSDGNENVPSSSGRHEGRTTKRHYRKSVRSRSRHEKTSRPKLRILNVSNKGDRVVECQLETHNRKMVTFKFDLDGDNPEEIATIMVNNDFILAIERESFVDQVREIIEKADEMLSEDVSVEPEGDQGLESLQGKDDYGFSGSQKLEGEFKQPIPASSMPQQIGIPTSSLTQVVHSAGRRFIVSPVPESRLRESKVFPSEITDTVAASTAQSPGMNLSHSASSLSLQQAFSELRRAQMTEGPNTAPPNFSHTGPTFPVVPPFLSSIAGVPTTAAATAPVPATSSPPNDISTSVIQSEVTVPTEEGIAGVATSTGVVTSGGLPIPPVSESPVLSSVVSSITIPAVVSISTTSPSLQVPTSTSEIVVSSTALYPSVTVSATSASAGGSTATPGPKPPAVVSQQAAGSTTVGATLTSVSTTTSFPSTASQLCIQLSSSTSTPTLAETVVVSAHSLDKTSHSSTTGLAFSLSAPSSSSSPGAGVSSYISQPGGLHPLVIPSVIASTPILPQAAGPTSTPLLPQVPSIPPLVQPVANVPAVQQTLIHSQPQPALLPNQPHTHCPEVDSDTQPKAPGIDDIKTLEEKLRSLFSEHSSSGAQHASVSLETSLVIESTVTPGIPTTAVAPSKLLTSTTSTCLPPTNLPLGTVALPVTPVVTPGQVSTPVSTTTSGVKPGTAPSKPPLTKAPVLPVGTELPAGTLPSEQLPPFPGPSLTQSQQPLEDLDAQLRRTLSPEMITVTSAVGPVSMAAPTAITEAGTQPQKVSQVKEGPVLATSSGAGVFKMGRFQVSVAADGAQKEGKNKSEDAKSVHFESSTSESSVLSSSSPESTLVKPEPNGITIPGISSDVPESAHKTTASEAKSDTGQPTKVGRFQVTTTANKVGRFSVSKTEDKITDTKKEGPVASPPFMDLEQAVLPAVIPKKEKPELSEPSHLNGPSSDPEAAFLSRDVDDGSGSPHSPHQLSSKSLPSQNLSQSLSNSFNSSYMSSDNESDIEDEDLKLELRRLRDKHLKEIQDLQSRQKHEIESLYTKLGKVPPAVIIPPAAPLSGRRRRPTKSKGSKSSRSSSLGNKSPQLSGNLSGQSAASVLHPQQTLHPPGNIPESGQNQLLQPLKPSPSSDNLYSAFTSDGAISVPSLSAPGQGTSSTNTVGATVNSQAAQAQPPAMTSSRKGTFTDDLHKLVDNWARDAMNLSGRRGSKGHMNYEGPGMARKFSAPGQLCISMTSNLGGSAPISAASATSLGHFTKSMCPPQQYGFPATPFGAQWSGTGGPAPQPLGQFQPVGTASLQNFNISNLQKSISNPPGSNLRTT to SRKRAVSNSR) +MSGGAAEKQSSTPGSLFLSPPAPAPKNGSSSDSSVGEKLGAAAADAVTGRTEEYRRRRHTMDKDSRGAAATTTTTEHRFFRRSVICDSNATALELPGLPL +SLPQPSIPAAVPQSAPPEPHREETVTATATSQVAQQPPAAAAPGEQAVAGPAPSTVPSSTSKDRPVSQPSLVGSKEEPPPARSGSGGGSAKEPQEERSQQ +QDDIEELETKAVGMSNDGRFLKFDIEIGRGSFKTVYKGLDTETTVEVAWCELQDRKLTKSERQRFKEEAEMLKGLQHPNIVRFYDSWESTVKGKKCIVLV +TELMTSGTLKTYLKRFKVMKIKVLRSWCRQILKGLQFLHTRTPPIIHRDLKCDNIFITGPTGSVKIGDLGLATLKRASFAKSVIGTPEFMAPEMYEEKYD +ESVDVYAFGMCMLEMATSEYPYSECQNAAQIYRRVTSGVKPASFDKVAIPEVKEIIEGCIRQNKDERYSIKDLLNHAFFQEETGVRVELAEEDDGEKIAI +KLWLRIEDIKKLKGKYKDNEAIEFSFDLERDVPEDVAQEMVESGYVCEGDHKTMAKAIKDRVSLIKRKREQRQLVREEQEKKSRKRAVSNSR* +>line26021 NM_152640 WILDTYPE +MAAVAAGGLVGKGRDISLAALQRHDPYINRIVDVASQVALYTFGHRANEWEKTDVEGTLFVYTRSASPKHGFTIMNRLSMENRTEPITKDLDFQLQDPFL +LYRNARLSIYGIWFYDKEECQRIAELMKNLTQYEQLKAHQGTGAGISPVILNSGEGKEVDILRMLIKAKDEYTKCKTCSEPKKITSSSAIYDNPNLIKPI +PVKPSENQQQRIPQPNQTLDPEPQHLSLTALFGKQDKATCQETVEPPQTLHQQQQQQQQQQEKLPIRQGVVRSLSYEEPRRHSPPIEKQLCPAIQKLMVR +SADLHPLSELPENRPCENGSTHSAGEFFTGPVQPGSPHNIGTSRGVQNASRTQNLFEKLQSTPGAANKCDPSTPAPASSAALNRSRAPTSVTPVAPGKGL +AQPPQAYFNGSLPPQTVGHQAHGREQSTLPRQTLPISGSQTGSSGVISPQELLKKLQIVQQEQQLHASNRPALAAKFPVLAQSSGTGKPLESWINKTPNT +EQQTPLFQVISPQRIPATAAPSLLMSPMVFAQPTSVPPKERESGLLPVGGQEPPAAATSLLLPIQSPEPSVITSSPLTKLQLQEALLYLIQNDDNFLNII +YEAYLFSMTQAAMKKTM* +>line26021 NM_152640 c.782_783insGCA p.Q261_E262insQ protein-altering (position 261-262 has insertion Q) +MAAVAAGGLVGKGRDISLAALQRHDPYINRIVDVASQVALYTFGHRANEWEKTDVEGTLFVYTRSASPKHGFTIMNRLSMENRTEPITKDLDFQLQDPFL +LYRNARLSIYGIWFYDKEECQRIAELMKNLTQYEQLKAHQGTGAGISPVILNSGEGKEVDILRMLIKAKDEYTKCKTCSEPKKITSSSAIYDNPNLIKPI +PVKPSENQQQRIPQPNQTLDPEPQHLSLTALFGKQDKATCQETVEPPQTLHQQQQQQQQQQQEKLPIRQGVVRSLSYEEPRRHSPPIEKQLCPAIQKLMV +RSADLHPLSELPENRPCENGSTHSAGEFFTGPVQPGSPHNIGTSRGVQNASRTQNLFEKLQSTPGAANKCDPSTPAPASSAALNRSRAPTSVTPVAPGKG +LAQPPQAYFNGSLPPQTVGHQAHGREQSTLPRQTLPISGSQTGSSGVISPQELLKKLQIVQQEQQLHASNRPALAAKFPVLAQSSGTGKPLESWINKTPN +TEQQTPLFQVISPQRIPATAAPSLLMSPMVFAQPTSVPPKERESGLLPVGGQEPPAAATSLLLPIQSPEPSVITSSPLTKLQLQEALLYLIQNDDNFLNI +IYEAYLFSMTQAAMKKTM* +>line26114 NM_133476 WILDTYPE +MEESHFNSNPYFWPSIPTVSGQIENTMFINKMKDQLLPEKGCGLAPPHYPTLLTVPASVSLPSGISMDTESKSDQLTPHSQASVTQNITVVPVPSTGLMT +AGVSCSQRWRREGSQSRGPGLVITSPSGSLVTTASSAQTFPISAPMIVSALPPGSQALQVVPDLSKKVASTLTEEGGGGGGGGGSVAPKPPRGRKKKRML +ESGLPEMNDPYVLSPEDDDDHQKDGKTYRCRMCSLTFYSKSEMQIHSKSHTETKPHKCPHCSKTFANSSYLAQHIRIHSGAKPYSCNFCEKSFRQLSHLQ +QHTRIHTGDRPYKCAHPGCEKAFTQLSNLQSHRRQHNKDKPFKCHNCHRAYTDAASLEVHLSTHTVKHAKVYTCTICSRAYTSETYLMKHMRKHNPPDLQ +QQVQAAAAAAAVAQAQAQAQAQAQAQAQAQAQAQASQASQQQQQQQQQQQQQQQQPPPHFQSPGAAPQGGGGGDSNPNPPPQCSFDLTPYKTAEHHKDIC +LTVTTSTIQVEHLASS* +>line26114 NM_133476 c.1356_1361del p.Q454_Q455del protein-altering (position 454-455 changed from QQ to ) +MEESHFNSNPYFWPSIPTVSGQIENTMFINKMKDQLLPEKGCGLAPPHYPTLLTVPASVSLPSGISMDTESKSDQLTPHSQASVTQNITVVPVPSTGLMT +AGVSCSQRWRREGSQSRGPGLVITSPSGSLVTTASSAQTFPISAPMIVSALPPGSQALQVVPDLSKKVASTLTEEGGGGGGGGGSVAPKPPRGRKKKRML +ESGLPEMNDPYVLSPEDDDDHQKDGKTYRCRMCSLTFYSKSEMQIHSKSHTETKPHKCPHCSKTFANSSYLAQHIRIHSGAKPYSCNFCEKSFRQLSHLQ +QHTRIHTGDRPYKCAHPGCEKAFTQLSNLQSHRRQHNKDKPFKCHNCHRAYTDAASLEVHLSTHTVKHAKVYTCTICSRAYTSETYLMKHMRKHNPPDLQ +QQVQAAAAAAAVAQAQAQAQAQAQAQAQAQAQAQASQASQQQQQQQQQQQQQQPPPHFQSPGAAPQGGGGGDSNPNPPPQCSFDLTPYKTAEHHKDICLT +VTTSTIQVEHLASS* +>line26120 NM_001940 WILDTYPE +MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSDGKAEKSRQTAKKARVEEASTPKVNKQGRSEEISESESEETNAPKKTKTEQELPRPQ +SPSDLDSLDGRSLNDDGSSDPRDIDQDNRSTSPSIYSPGSVENDSDSSSGLSQGPARPYHPPPLFPPSPQPPDSTPRQPEASFEPHPSVTPTGYHAPMEP +PTSRMFQAPPGAPPPHPQLYPGGTGGVLSGPPMGPKGGGAASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPPTTPVGGGNLPSAPPPANFPHVTPN +LPPPPALRPLNNASASPPGLGAQPLPGHLPSPHAMGQGMGGLPPGPEKGPTLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASSSSSSSSSSASPFP +ASQALPSYPHSFPPPTSLSVSNQPPKYTQPSLPSQAVWSQGPPPPPPYGRLLANSNAHPGPFPPSTGAQSTAHPPVSTHHHHHQQQQQQQQQQQQQQQQQ +QQHHGNSGPPPPGAFPHPLEGGSSHHAHPYAMSPSLGSLRPYPPGPAHLPPPHSQVSYSQAGPNGPPVSSSSNSSSSTSQGSYPCSHPSPSQGPQGAPYP +FPPVPTVTTSSATLSTVIATVASSPAGYKTASPPGPPPYGKRAPSPGAYKTATPPGYKPGSPPSFRTGTPPGYRGTSPPAGPGTFKPGSPTVGPGPLPPA +GPSGLPSLPPPPAAPASGPPLSATQIKQEPAEEYETPESPVPPARSPSPPPKVVDVPSHASQSARFNKHLDRGFNSCARSDLYFVPLEGSKLAKKRADLV +EKVRREAEQRAREEKEREREREREKEREREKERELERSVKLAQEGRAPVECPSLGPVPHRPPFEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNR +NHPFYVPLGAVDPGLLGYNVPALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPLHGVPGPGLDPFPRHGGLALQPGPPGLHPFPFHPSLGPLER +ERLALAAGPALRPDMSYAERLAAERQHAERVAALGNDPLARLQMLNVTPHHHQHSHIHSHLHLHQQDAIHAASASVHPLIDPLASGSHLTRIPYPAGTLP +NPLLPHPLHENEVLRHQLFAAPYRDLPASLSAPMSAAHQLQAMHAQSAELQRLALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL* +>line26120 NM_001940 c.1462_1476del p.Q498_Q502del protein-altering (position 498-502 changed from QQQQQ to ) +MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSDGKAEKSRQTAKKARVEEASTPKVNKQGRSEEISESESEETNAPKKTKTEQELPRPQ +SPSDLDSLDGRSLNDDGSSDPRDIDQDNRSTSPSIYSPGSVENDSDSSSGLSQGPARPYHPPPLFPPSPQPPDSTPRQPEASFEPHPSVTPTGYHAPMEP +PTSRMFQAPPGAPPPHPQLYPGGTGGVLSGPPMGPKGGGAASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPPTTPVGGGNLPSAPPPANFPHVTPN +LPPPPALRPLNNASASPPGLGAQPLPGHLPSPHAMGQGMGGLPPGPEKGPTLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASSSSSSSSSSASPFP +ASQALPSYPHSFPPPTSLSVSNQPPKYTQPSLPSQAVWSQGPPPPPPYGRLLANSNAHPGPFPPSTGAQSTAHPPVSTHHHHHQQQQQQQQQQQQQQHHG +NSGPPPPGAFPHPLEGGSSHHAHPYAMSPSLGSLRPYPPGPAHLPPPHSQVSYSQAGPNGPPVSSSSNSSSSTSQGSYPCSHPSPSQGPQGAPYPFPPVP +TVTTSSATLSTVIATVASSPAGYKTASPPGPPPYGKRAPSPGAYKTATPPGYKPGSPPSFRTGTPPGYRGTSPPAGPGTFKPGSPTVGPGPLPPAGPSGL +PSLPPPPAAPASGPPLSATQIKQEPAEEYETPESPVPPARSPSPPPKVVDVPSHASQSARFNKHLDRGFNSCARSDLYFVPLEGSKLAKKRADLVEKVRR +EAEQRAREEKEREREREREKEREREKERELERSVKLAQEGRAPVECPSLGPVPHRPPFEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNRNHPFY +VPLGAVDPGLLGYNVPALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPLHGVPGPGLDPFPRHGGLALQPGPPGLHPFPFHPSLGPLERERLAL +AAGPALRPDMSYAERLAAERQHAERVAALGNDPLARLQMLNVTPHHHQHSHIHSHLHLHQQDAIHAASASVHPLIDPLASGSHLTRIPYPAGTLPNPLLP +HPLHENEVLRHQLFAAPYRDLPASLSAPMSAAHQLQAMHAQSAELQRLALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL* +>line26134 NM_005889 WILDTYPE +MSRKIWRSSGKNTTNHVEVNFIKKFTSERDFHPSMSCSITWFLSWSPCWECSQAIREFLSRHPGVTLVIYVARLFWHMDQQNRQGLRDLVNSGVTIQIMR +ASEYYHCWRNFVNYPPGDEAHWPQYPPLWMMLYALELHCIILSLPPCLKISRRWQNHLTFFRLHLQNCHYQTIPPHILLATGLIHPSVAWR* +>line26134 NM_005889 c.190_191AA p.G64N protein-altering (position 64 changed from G to N) +MSRKIWRSSGKNTTNHVEVNFIKKFTSERDFHPSMSCSITWFLSWSPCWECSQAIREFLSRHPNVTLVIYVARLFWHMDQQNRQGLRDLVNSGVTIQIMR +ASEYYHCWRNFVNYPPGDEAHWPQYPPLWMMLYALELHCIILSLPPCLKISRRWQNHLTFFRLHLQNCHYQTIPPHILLATGLIHPSVAWR* +>line26195 NM_001253750 WILDTYPE +MVSNFFHVIQVFEKSATLISKTEHIGFVIYSWRKSTTHLGSRRKFAISIYLSEVSLQKYDCPFSGTSFVVFSLFLICAMAGDVVYADIKTVRTSPLELAF +PLQRSVSFNFSTVHKSCPAKDWKVHKGKCYWIAETKKSWNKSQNDCAINNSYLMVIQDITAMLITFLLYLQMAFLQCVYISDVSVYPNFFL* +>line26195 NM_001253750 c.153_154insACTTA p.S52Tfs*25 protein-altering (position 52-191 changed from SEVSLQKYDCPFSGTSFVVFSLFLICAMAGDVVYADIKTVRTSPLELAFPLQRSVSFNFSTVHKSCPAKDWKVHKGKCYWIAETKKSWNKSQNDCAINNSYLMVIQDITAMLITFLLYLQMAFLQCVYISDVSVYPNFFL to TYQKFLCRNMIVPSVGHHLWSSLSF) +MVSNFFHVIQVFEKSATLISKTEHIGFVIYSWRKSTTHLGSRRKFAISIYLTYQKFLCRNMIVPSVGHHLWSSLSF* +>line26198 NM_001291822 WILDTYPE +MQDEERYMTLNVQSKKRSSAQTSQLTFKDYSVTLHWYKILLGISGTVNGILTLTLISLILLVLCQSEWLKYQGKCCYWFSNEMKSWSDSYVYCLERKSHL +LIIHDQLEMAFIQKNLRQLNYVWIGLNFTSLKMTWTWVDGSPIDSKIFFIKGPAKENSCAAIKESKIFSETCSSVFKWICQY* +>line26198 NM_001291822 c.223_225del p.C76del protein-altering (position 76 changed from C to ) +MQDEERYMTLNVQSKKRSSAQTSQLTFKDYSVTLHWYKILLGISGTVNGILTLTLISLILLVLCQSEWLKYQGKCYWFSNEMKSWSDSYVYCLERKSHLL +IIHDQLEMAFIQKNLRQLNYVWIGLNFTSLKMTWTWVDGSPIDSKIFFIKGPAKENSCAAIKESKIFSETCSSVFKWICQY* +>line26285 NM_024829 WILDTYPE +MTRGGPGGRPGLPQPPPLLLLLLLLPLLLVTAEPPKPAGVYYATAYWMPAEKTVQVKNVMDKNGDAYGFYNNSVKTTGWGILEIRAGYGSQTLSNEIIMF +VAGFLEGYLTAPHMNDHYTNLYPQLITKPSIMDKVQDFMEKQDKWTRKNIKEYKTDSFWRHTGYVMAQIDGLYVGAKKRAILEGTKPMTLFQIQFLNSVG +DLLDLIPSLSPTKNGSLKVFKRWDMGHCSALIKVLPGFENILFAHSSWYTYAAMLRIYKHWDFNVIDKDTSSSRLSFSSYPGFLESLDDFYILSSGLILL +QTTNSVFNKTLLKQVIPETLLSWQRVRVANMMADSGKRWADIFSKYNSGTYNNQYMVLDLKKVKLNHSLDKGTLYIVEQIPTYVEYSEQTDVLRKGYWPS +YNVPFHEKIYNWSGYPLLVQKLGLDYSYDLAPRAKIFRRDQGKVTDTASMKYIMRYNNYKKDPYSRGDPCNTICCREDLNSPNPSPGGCYDTKVADIYLA +SQYTSYAISGPTVQGGLPVFRWDRFNKTLHQGMPEVYNFDFITMKPILKLDIK* +>line26285 NM_024829 c.74_76del p.L25del protein-altering (position 25 changed from L to ) +MTRGGPGGRPGLPQPPPLLLLLLLPLLLVTAEPPKPAGVYYATAYWMPAEKTVQVKNVMDKNGDAYGFYNNSVKTTGWGILEIRAGYGSQTLSNEIIMFV +AGFLEGYLTAPHMNDHYTNLYPQLITKPSIMDKVQDFMEKQDKWTRKNIKEYKTDSFWRHTGYVMAQIDGLYVGAKKRAILEGTKPMTLFQIQFLNSVGD +LLDLIPSLSPTKNGSLKVFKRWDMGHCSALIKVLPGFENILFAHSSWYTYAAMLRIYKHWDFNVIDKDTSSSRLSFSSYPGFLESLDDFYILSSGLILLQ +TTNSVFNKTLLKQVIPETLLSWQRVRVANMMADSGKRWADIFSKYNSGTYNNQYMVLDLKKVKLNHSLDKGTLYIVEQIPTYVEYSEQTDVLRKGYWPSY +NVPFHEKIYNWSGYPLLVQKLGLDYSYDLAPRAKIFRRDQGKVTDTASMKYIMRYNNYKKDPYSRGDPCNTICCREDLNSPNPSPGGCYDTKVADIYLAS +QYTSYAISGPTVQGGLPVFRWDRFNKTLHQGMPEVYNFDFITMKPILKLDIK* +>line26446 NM_001204102 WILDTYPE +MERLEIQRIEKEKWHRLEAKDLERRNEELEELYLLERCFPEAEKLKQETKLLSQWKHYIQCDGSPDPSVAQEMNTFISLWKEKTNETFEEVIEKSKVVLN +LIEKLKFILLETPPCDLQDKNIIQYQESILQLQELLHLKFGVATEILLKQASTLADLDSGNMEKVIKDENVTLYVWANLKKNPRHRSVRFSETQIGFEIP +RILATSDIAVRLLHTHYDHVSALHPVSTPSKEYTSAVTELVKDDVKNVEKAISKEVEEESKQQERGSHLIQEEEIKVEEEQGDIEVKMSSAEEESEAIKC +EREMKVLSETVSAAQLLLVENSSEKPDFFEDNVVDLCQFTTLGGVYHLDILELPPQCKPVKGWMIVEILKEGLQKYTYPPETTEEFETENAFPPIEVTLE +VHENVIFFEDPVVVRWDAEGKHWRTDGISNVSYKPKERLVTFSLDTFGPVTLIQDAHINMPYQSWELRPLDVNKVLLTVTTVFTEIQIQIKENLCMLSSI +KLKDKKHISILEGTWMTPIPFIIALKEAGLNIFPTRHSHFYVIINNKVPLVEVKAYRQMALLSSAFAFGWSKWNLLCNSTKVVFKVREHLTEACTENPNW +ALLMFSGDRAQRLKIKEESEAFSEALKEETEFHSTLYHMVKDFASEEAMEKVRSSNCQFVNSVCHMLLSTRLLSYS* +>line26446 NM_001204102 c.816_817TT p.E272_S676delinsD immediate-stopgain (position 272-676 changed from EEEIKVEEEQGDIEVKMSSAEEESEAIKCEREMKVLSETVSAAQLLLVENSSEKPDFFEDNVVDLCQFTTLGGVYHLDILELPPQCKPVKGWMIVEILKEGLQKYTYPPETTEEFETENAFPPIEVTLEVHENVIFFEDPVVVRWDAEGKHWRTDGISNVSYKPKERLVTFSLDTFGPVTLIQDAHINMPYQSWELRPLDVNKVLLTVTTVFTEIQIQIKENLCMLSSIKLKDKKHISILEGTWMTPIPFIIALKEAGLNIFPTRHSHFYVIINNKVPLVEVKAYRQMALLSSAFAFGWSKWNLLCNSTKVVFKVREHLTEACTENPNWALLMFSGDRAQRLKIKEESEAFSEALKEETEFHSTLYHMVKDFASEEAMEKVRSSNCQFVNSVCHMLLSTRLLSYS to D) +MERLEIQRIEKEKWHRLEAKDLERRNEELEELYLLERCFPEAEKLKQETKLLSQWKHYIQCDGSPDPSVAQEMNTFISLWKEKTNETFEEVIEKSKVVLN +LIEKLKFILLETPPCDLQDKNIIQYQESILQLQELLHLKFGVATEILLKQASTLADLDSGNMEKVIKDENVTLYVWANLKKNPRHRSVRFSETQIGFEIP +RILATSDIAVRLLHTHYDHVSALHPVSTPSKEYTSAVTELVKDDVKNVEKAISKEVEEESKQQERGSHLIQD* +>line26813 NM_006121 WILDTYPE +MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGGGFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFG +GGGFGGGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRF +LEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVD +LQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYEDIAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISE +LNRVIQRLRSEIDNVKKQISNLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEESRMSGECAPN +VSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYGSGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSG +GRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR* +>line26813 NM_006121 c.1669_1689del p.S557_G563del protein-altering (position 557-563 changed from SSYGSGG to ) +MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGGGFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFG +GGGFGGGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRF +LEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVD +LQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYEDIAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISE +LNRVIQRLRSEIDNVKKQISNLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEESRMSGECAPN +VSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYGSGGGGGGGRGSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSGGRGSGGG +SSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR* +>line26839 NM_021640 WILDTYPE +MGHQFLRGLLTLLLPPPPLYTRHRMLGPESVPPPKRSRSKLMAPPRIGTHNGTFHCDEALACALLRLLPEYRDAEIVRTRDPEKLASCDIVVDVGGEYDP +RRHRYDHHQRSFTETMSSLSPGKPWQTKLSSAGLIYLHFGHKLLAQLLGTSEEDSMVGTLYDKMYENFVEEVDAVDNGISQWAEGEPRYALTTTLSARVA +RLNPTWNHPDQDTEAGFKRAMDLVQEEFLQRLDFYQHSWLPARALVEEALAQRFQVDPSGEIVELAKGACPWKEHLYHLESGLSPPVAIFFVIYTDQAGQ +WRIQCVPKEPHSFQSRLPLPEPWRGLRDEALDQVSGIPGCIFVHASGFTGGHHTREGALSMARATLAQRSYLPQIS* +>line26839 NM_021640 c.11_12GC p.Q4R protein-altering (position 4 changed from Q to R) +MGHRFLRGLLTLLLPPPPLYTRHRMLGPESVPPPKRSRSKLMAPPRIGTHNGTFHCDEALACALLRLLPEYRDAEIVRTRDPEKLASCDIVVDVGGEYDP +RRHRYDHHQRSFTETMSSLSPGKPWQTKLSSAGLIYLHFGHKLLAQLLGTSEEDSMVGTLYDKMYENFVEEVDAVDNGISQWAEGEPRYALTTTLSARVA +RLNPTWNHPDQDTEAGFKRAMDLVQEEFLQRLDFYQHSWLPARALVEEALAQRFQVDPSGEIVELAKGACPWKEHLYHLESGLSPPVAIFFVIYTDQAGQ +WRIQCVPKEPHSFQSRLPLPEPWRGLRDEALDQVSGIPGCIFVHASGFTGGHHTREGALSMARATLAQRSYLPQIS* +>line27001 NM_007191 WILDTYPE +MARRSAFPAAALWLWSILLCLLALRAEAGPPQEESLYLWIDAHQARVLIGFEEDILIVSEGKMAPFTHDFRKAQQRMPAIPVNIHSMNFTWQAAGQAEYF +YEFLSLRSLDKGIMADPTVNVPLLGTVPHKASVVQVGFPCLGKQDGVAAFEVDVIVMNSEGNTILQTPQNAIFFKTCQQAECPGGCRNGGFCNERRICEC +PDGFHGPHCEKALCTPRCMNGGLCVTPGFCICPPGFYGVNCDKANCSTTCFNGGTCFYPGKCICPPGLEGEQCEISKCPQPCRNGGKCIGKSKCKCSKGY +QGDLCSKPVCEPGCGAHGTCHEPNKCQCQEGWHGRHCNKRYEASLIHALRPAGAQLRQHTPSLKKAEERRDPPESNYIW* +>line27001 NM_007191 c.1094delA p.K365Rfs*32 protein-altering (position 365-379 changed from KAEERRDPPESNYIW to RPRSGGIHLNPITSGELRHLKRFKLHQVHSLC) +MARRSAFPAAALWLWSILLCLLALRAEAGPPQEESLYLWIDAHQARVLIGFEEDILIVSEGKMAPFTHDFRKAQQRMPAIPVNIHSMNFTWQAAGQAEYF +YEFLSLRSLDKGIMADPTVNVPLLGTVPHKASVVQVGFPCLGKQDGVAAFEVDVIVMNSEGNTILQTPQNAIFFKTCQQAECPGGCRNGGFCNERRICEC +PDGFHGPHCEKALCTPRCMNGGLCVTPGFCICPPGFYGVNCDKANCSTTCFNGGTCFYPGKCICPPGLEGEQCEISKCPQPCRNGGKCIGKSKCKCSKGY +QGDLCSKPVCEPGCGAHGTCHEPNKCQCQEGWHGRHCNKRYEASLIHALRPAGAQLRQHTPSLKRPRSGGIHLNPITSGELRHLKRFKLHQVHSLC* +>line27095 NM_007350 WILDTYPE +MRRAPAAERLLELGFPPRCGRQEPPFPLGVTRGWGRWPIQKRREGARPVPFSERSQEDGRGPAARSSGTLWRIRTRLSLCRDPEPPPPLCLLRVSLLCAL +RAGGRGSRWGEDGARLLLLPPARAAGNGEAEPSGGPSYAGRMLESSGCKALKEGVLEKRSDGLLQLWKKKCCILTEEGLLLIPPKQLQHQQQQQQQQQQQ +QQQQPGQGPAEPSQPSGPAVASLEPPVKLKELHFSNMKTVDCVERKGKYMYFTVVMAEGKEIDFRCPQDQGWNAEITLQMVQYKNRQAILAVKSTRQKQQ +HLVQQQPPSQPQPQPQLQPQPQPQPQPQPQPQSQPQPQPQPKPQPQQLHPYPHPHPHPHSHPHSHPHPHPHPHPHQIPHPHPQPHSQPHGHRLLRSTSNS +A* +>line27095 NM_007350 c.582_584del p.Q204del protein-altering (position 204 changed from Q to ) +MRRAPAAERLLELGFPPRCGRQEPPFPLGVTRGWGRWPIQKRREGARPVPFSERSQEDGRGPAARSSGTLWRIRTRLSLCRDPEPPPPLCLLRVSLLCAL +RAGGRGSRWGEDGARLLLLPPARAAGNGEAEPSGGPSYAGRMLESSGCKALKEGVLEKRSDGLLQLWKKKCCILTEEGLLLIPPKQLQHQQQQQQQQQQQ +QQQPGQGPAEPSQPSGPAVASLEPPVKLKELHFSNMKTVDCVERKGKYMYFTVVMAEGKEIDFRCPQDQGWNAEITLQMVQYKNRQAILAVKSTRQKQQH +LVQQQPPSQPQPQPQLQPQPQPQPQPQPQPQSQPQPQPQPKPQPQQLHPYPHPHPHPHSHPHSHPHPHPHPHPHQIPHPHPQPHSQPHGHRLLRSTSNSA +* +>line27326 NM_014503 WILDTYPE +MKTKPVSHKTENTYRFLTFAERLGNVNIDIIHRIDRTASYEEEVETYFFEGLLKWRELNLTEHFGKFYKEVIDKCQSFNQLVYHQNEIVQSLKTHLQVKN +SFAYQPLLDLVVQLARDLQMDFYPHFPEFFLTITSILETQDTELLEWAFTSLSYLYKYLWRLMVKDMSSIYSMYSTLLAHKKLHIRNFAAESFTFLMRKV +SDKNALFNLMFLDLDKHPEKVEGVGQLLFEMCKGVRNMFHSCTGQAVKLILRKLGPVTETETQLPWMLIGETLKNMVKSTVSYISKEHFGTFFECLQESL +LDLHTKVTKTNCCESSEQIKRLLETYLILVKHGSGTKIPTPADVCKVLSQTLQVASLSTSCWETLLDVISALILGENVSLPETLIKETIEKIFESRFEKR +LIFSFSEVMFAMKQFEQLFLPSFLSYIVNCFLIDDAVVKDEALAILAKLILNKAAPPTAGSMAIEKYPLVFSPQMVGFYIKQKKTRSKGRNEQFPVLDHL +LSIIKLPPNKDTTYLSQSWAALVVLPHIRPLEKEKVIPLVTGFIEALFMTVDKGSFGKGNLFVLCQAVNTLLSLEESSELLHLVPVERVKNLVLTFPLEP +SVLLLTDLYYQRLALCGCKGPLSQEALMELFPKLQANISTGVSKIRLLTIRILNHFDVQLPESMEDDGLSERQSVFAILRQAELVPATVNDYREKLLHLR +KLRHDVVQTAVPDGPLQEVPLRYLLGMLYINFSALWDPVIELISSHAHEMENKQFWKVYYEHLEKAATHAEKELQNDMTDEKSVGDESWEQTQEGDVGAL +YHEQLALKTDCQERLDHTNFRFLLWRALTKFPERVEPRSRELSPLFLRFINNEYYPADLQVAPTQDLRRKGKGMVAEEIEEEPAAGDDEELEEEAVPQDE +SSQKKKTRRAAAKQLIAHLQVFSKFSNPRALYLESKLYELYLQLLLHQDQMVQKITLDCIMTYKHPHVLPYRENLQRLLEDRSFKEEIVHFSISEDNAVV +KTAHRADLFPILMRILYGRMKNKTGSKTQGKSASGTRMAIVLRFLAGTQPEEIQIFLDLLFEPVRHFKNGECHSAVIQAVEDLDLSKVLPLGRQHGILNS +LEIVLKNISHLISAYLPKILQILLCMTATVSHILDQREKIQLRFINPLKNLRRLGIKMVTDIFLDWESYQFRTEEIDAVFHGAVWPQISRLGSESQYSPT +PLLKLISIWSRNARYFPLLAKQKPGHPECDILTNVFAILSAKNLSDATASIVMDIVDDLLNLPDFEPTETVLNLLVTGCVYPGIAENIGESITIGGRLIL +PHVPAILQYLSKTTISAEKVKKKKNRAQVSKELGILSKISKFMKDKEQSSVLITLLLPFLHRGNIAEDTEVDILVTVQNLLKHCVDPTSFLKPIAKLFSV +IKNKLSRKLLCTVFETLSDFESGLKYITDVVKLNAFDQRHLDDINFDVRFETFQTITSYIKEMQIVDVNYLIPVMHNCFYNLELGDMSLSDNASMCLMSI +IKKLAALNVTEKDYREIIHRSLLEKLRKGLKSQTESIQQDYTTILSCLIQTFPNQLEFKDLVQLTHYHDPEMDFFENMKHIQIHRRARALKKLAKQLMEG +KVVLSSKSLQNYIMPYAMTPIFDEKMLKHENITTAATEIIGAICKHLSWSAYMYYLKHFIHVLQTGQINQKLGVSLLVIVLEAFHFDHKTLEEQMGKIEN +EENAIEAIELPEPEAMELERVDEEEKEYTCKSLSDNGQPGTPDPADSGGTSAKESECITKPVSFLPQNKEEIERTIKNIQGTITGDILPRLHKCLASTTK +REEEHKLVKSKVVNDEEVVRVPLAFAMVKLMQSLPQEVMEANLPSILLKVCALLKNRAQEIRDIARSTLAKIIEDLGVHFLLYVLKELQTTLVRGYQVHV +LTFTVHMLLQGLTNKLQVGDLDSCLDIMIEIFNHELFGAVAEEKEVKQILSKVMEARRSKSYDSYEILGKFVGKDQVTKLILPLKEILQNTTSLKLARKV +HETLRRITVGLIVNQEMTAESILLLSYGLISENLPLLTEKEKNPVAPAPDPRLPPQSCLLLPPTPVRGGQKAVVSRKTNMHIFIESGLRLLHLSLKTSKI +KSSGECVLEMLDPFVSLLIDCLGSMDVKVITGALQCLIWVLRFPLPSIETKAEQLTKHLFLLLKDYAKLGAARGQNFHLVVNCFKCVTILVKKVKSYQIT +EKQLQVLLAYAEEDIYDTSRQATAFGLLKAILSRKLLVPEIDEVMRKVSKLAVSAQSEPARVQCRQVFLKYILDYPLGDKLRPNLEFMLAQLNYEHETGR +ESTLEMIAYLFDTFPQGLLHENCGMFFIPLCLMTINDDSATCKKMASMTIKSLLGKISLEKKDWLFDMVTTWFGAKKRLNRQLAALICGLFVESEGVDFE +KRLGTVLPVIEKEIDPENFKDIMEETEEKAADRLLFSFLTLITKLIKECNIIQFTKPAETLSKIWSHVHSHLRHPHNWVWLTAAQIFGLLFASCQPEELI +QKWNTKKTKKHLPEPVAIKFLASDLDQKMKSISLASCHQLHSKFLDQSLGEQVVKNLLFAAKVLYLLELYCEDKQSKIKEDLEEQEALEDGVACADEKAE +SDGEEKEEVKEELGRPATLLWLIQKLSRIAKLEAAYSPRNPLKRTCIFKFLGAVAMDLGIDKVKPYLPMIIAPLFRELNSTYSEQDPLLKNLSQEIIELL +KKLVGLESFSLAFASVQKQANEKRALRKKRKALEFVTNPDIAAKKKMKKHKNKSEAKKRKIEFLRPGYKAKRQKSHSLKDLAMVE* +>line27326 NM_014503 c.5530_5531TT p.P1844L protein-altering (position 1844 changed from P to L) +MKTKPVSHKTENTYRFLTFAERLGNVNIDIIHRIDRTASYEEEVETYFFEGLLKWRELNLTEHFGKFYKEVIDKCQSFNQLVYHQNEIVQSLKTHLQVKN +SFAYQPLLDLVVQLARDLQMDFYPHFPEFFLTITSILETQDTELLEWAFTSLSYLYKYLWRLMVKDMSSIYSMYSTLLAHKKLHIRNFAAESFTFLMRKV +SDKNALFNLMFLDLDKHPEKVEGVGQLLFEMCKGVRNMFHSCTGQAVKLILRKLGPVTETETQLPWMLIGETLKNMVKSTVSYISKEHFGTFFECLQESL +LDLHTKVTKTNCCESSEQIKRLLETYLILVKHGSGTKIPTPADVCKVLSQTLQVASLSTSCWETLLDVISALILGENVSLPETLIKETIEKIFESRFEKR +LIFSFSEVMFAMKQFEQLFLPSFLSYIVNCFLIDDAVVKDEALAILAKLILNKAAPPTAGSMAIEKYPLVFSPQMVGFYIKQKKTRSKGRNEQFPVLDHL +LSIIKLPPNKDTTYLSQSWAALVVLPHIRPLEKEKVIPLVTGFIEALFMTVDKGSFGKGNLFVLCQAVNTLLSLEESSELLHLVPVERVKNLVLTFPLEP +SVLLLTDLYYQRLALCGCKGPLSQEALMELFPKLQANISTGVSKIRLLTIRILNHFDVQLPESMEDDGLSERQSVFAILRQAELVPATVNDYREKLLHLR +KLRHDVVQTAVPDGPLQEVPLRYLLGMLYINFSALWDPVIELISSHAHEMENKQFWKVYYEHLEKAATHAEKELQNDMTDEKSVGDESWEQTQEGDVGAL +YHEQLALKTDCQERLDHTNFRFLLWRALTKFPERVEPRSRELSPLFLRFINNEYYPADLQVAPTQDLRRKGKGMVAEEIEEEPAAGDDEELEEEAVPQDE +SSQKKKTRRAAAKQLIAHLQVFSKFSNPRALYLESKLYELYLQLLLHQDQMVQKITLDCIMTYKHPHVLPYRENLQRLLEDRSFKEEIVHFSISEDNAVV +KTAHRADLFPILMRILYGRMKNKTGSKTQGKSASGTRMAIVLRFLAGTQPEEIQIFLDLLFEPVRHFKNGECHSAVIQAVEDLDLSKVLPLGRQHGILNS +LEIVLKNISHLISAYLPKILQILLCMTATVSHILDQREKIQLRFINPLKNLRRLGIKMVTDIFLDWESYQFRTEEIDAVFHGAVWPQISRLGSESQYSPT +PLLKLISIWSRNARYFPLLAKQKPGHPECDILTNVFAILSAKNLSDATASIVMDIVDDLLNLPDFEPTETVLNLLVTGCVYPGIAENIGESITIGGRLIL +PHVPAILQYLSKTTISAEKVKKKKNRAQVSKELGILSKISKFMKDKEQSSVLITLLLPFLHRGNIAEDTEVDILVTVQNLLKHCVDPTSFLKPIAKLFSV +IKNKLSRKLLCTVFETLSDFESGLKYITDVVKLNAFDQRHLDDINFDVRFETFQTITSYIKEMQIVDVNYLIPVMHNCFYNLELGDMSLSDNASMCLMSI +IKKLAALNVTEKDYREIIHRSLLEKLRKGLKSQTESIQQDYTTILSCLIQTFPNQLEFKDLVQLTHYHDPEMDFFENMKHIQIHRRARALKKLAKQLMEG +KVVLSSKSLQNYIMPYAMTPIFDEKMLKHENITTAATEIIGAICKHLSWSAYMYYLKHFIHVLQTGQINQKLGVSLLVIVLEAFHFDHKTLEEQMGKIEN +EENAIEAIELPEPEAMELERVDEEEKEYTCKSLSDNGQPGTPDPADSGGTSAKESECITKPVSFLPQNKEEIERTIKNIQGTITGDILPRLHKCLASTTK +REEEHKLVKSKVVNDEEVVRVPLAFAMVKLMQSLPQEVMEANLLSILLKVCALLKNRAQEIRDIARSTLAKIIEDLGVHFLLYVLKELQTTLVRGYQVHV +LTFTVHMLLQGLTNKLQVGDLDSCLDIMIEIFNHELFGAVAEEKEVKQILSKVMEARRSKSYDSYEILGKFVGKDQVTKLILPLKEILQNTTSLKLARKV +HETLRRITVGLIVNQEMTAESILLLSYGLISENLPLLTEKEKNPVAPAPDPRLPPQSCLLLPPTPVRGGQKAVVSRKTNMHIFIESGLRLLHLSLKTSKI +KSSGECVLEMLDPFVSLLIDCLGSMDVKVITGALQCLIWVLRFPLPSIETKAEQLTKHLFLLLKDYAKLGAARGQNFHLVVNCFKCVTILVKKVKSYQIT +EKQLQVLLAYAEEDIYDTSRQATAFGLLKAILSRKLLVPEIDEVMRKVSKLAVSAQSEPARVQCRQVFLKYILDYPLGDKLRPNLEFMLAQLNYEHETGR +ESTLEMIAYLFDTFPQGLLHENCGMFFIPLCLMTINDDSATCKKMASMTIKSLLGKISLEKKDWLFDMVTTWFGAKKRLNRQLAALICGLFVESEGVDFE +KRLGTVLPVIEKEIDPENFKDIMEETEEKAADRLLFSFLTLITKLIKECNIIQFTKPAETLSKIWSHVHSHLRHPHNWVWLTAAQIFGLLFASCQPEELI +QKWNTKKTKKHLPEPVAIKFLASDLDQKMKSISLASCHQLHSKFLDQSLGEQVVKNLLFAAKVLYLLELYCEDKQSKIKEDLEEQEALEDGVACADEKAE +SDGEEKEEVKEELGRPATLLWLIQKLSRIAKLEAAYSPRNPLKRTCIFKFLGAVAMDLGIDKVKPYLPMIIAPLFRELNSTYSEQDPLLKNLSQEIIELL +KKLVGLESFSLAFASVQKQANEKRALRKKRKALEFVTNPDIAAKKKMKKHKNKSEAKKRKIEFLRPGYKAKRQKSHSLKDLAMVE* +>line27353 NM_004316 WILDTYPE +MESSAKMESGGAGQQPQPQPQQPFLPPAACFFATAAAAAAAAAAAAAQSAQQQQQQQQQQQQAPQLRPAADGQPSGGGHKSAPKQVKRQRSSSPELMRCK +RRLNFSGFGYSLPQQQPAAVARRNERERNRVKLVNLGFATLREHVPNGAANKKMSKVETLRSAVEYIRALQQLLDEHDAVSAAFQAGVLSPTISPNYSND +LNSMAGSPVSSYSSDEGSYDPLSPEEQELLDFTNWF* +>line27353 NM_004316 c.150_152del p.Q62del protein-altering (position 62 changed from Q to ) +MESSAKMESGGAGQQPQPQPQQPFLPPAACFFATAAAAAAAAAAAAAQSAQQQQQQQQQQQAPQLRPAADGQPSGGGHKSAPKQVKRQRSSSPELMRCKR +RLNFSGFGYSLPQQQPAAVARRNERERNRVKLVNLGFATLREHVPNGAANKKMSKVETLRSAVEYIRALQQLLDEHDAVSAAFQAGVLSPTISPNYSNDL +NSMAGSPVSSYSSDEGSYDPLSPEEQELLDFTNWF* +>line27435 NM_001301141 WILDTYPE +MAAAGAFRLRRAASALLLRSPRLPARELSAPARLYHKKVVDHYENPRNVGSLDKTSKNVGTGLVGAPACGDVMKLQIQVDEKGKIVDARFKTFGCGSAIA +SSSLATEWVKGKTVEEALTIKNTDIAKELCLPPVKLHCSRKEGMRNISLNASMEVY* +>line27435 NM_001301141 c.19_20GG p.F7G protein-altering (position 7 changed from F to G) +MAAAGAGRLRRAASALLLRSPRLPARELSAPARLYHKKVVDHYENPRNVGSLDKTSKNVGTGLVGAPACGDVMKLQIQVDEKGKIVDARFKTFGCGSAIA +SSSLATEWVKGKTVEEALTIKNTDIAKELCLPPVKLHCSRKEGMRNISLNASMEVY* +>line27448 NM_001093 WILDTYPE +MVLLLCLSCLIFSCLTFSWLKIWGKMTDSKPITKSKSEANLIPSQEPFPASDNSGETPQRNGEGHTLPKTPSQAEPASHKGPKDAGRRRNSLPPSHQKPP +RNPLSSSDAAPSPELQANGTGTQGLEATDTNGLSSSARPQGQQAGSPSKEDKKQANIKRQLMTNFILGSFDDYSSDEDSVAGSSRESTRKGSRASLGALS +LEAYLTTGEAETRVPTMRPSMSGLHLVKRGREHKKLDLHRDFTVASPAEFVTRFGGDRVIEKVLIANNGIAAVKCMRSIRRWAYEMFRNERAIRFVVMVT +PEDLKANAEYIKMADHYVPVPGGPNNNNYANVELIVDIAKRIPVQAVWAGWGHASENPKLPELLCKNGVAFLGPPSEAMWALGDKIASTVVAQTLQVPTL +PWSGSGLTVEWTEDDLQQGKRISVPEDVYDKGCVKDVDEGLEAAERIGFPLMIKASEGGGGKGIRKAESAEDFPILFRQVQSEIPGSPIFLMKLAQHARH +LEVQILADQYGNAVSLFGRDCSIQRRHQKIVEEAPATIAPLAIFEFMEQCAIRLAKTVGYVSAGTVEYLYSQDGSFHFLELNPRLQVEHPCTEMIADVNL +PAAQLQIAMGVPLHRLKDIRLLYGESPWGVTPISFETPSNPPLARGHVIAARITSENPDEGFKPSSGTVQELNFRSSKNVWGYFSVAATGGLHEFADSQF +GHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLINLLETESFQNNDIDTGWLDYLIAEKVQAEKPDIMLGVVCGALNVADAMFRTCMTDFLHSLER +GQVLPADSLLNLVDVELIYGGVKYILKVARQSLTMFVLIMNGCHIEIDAHRLNDGGLLLSYNGNSYTTYMKEEVDSYRITIGNKTCVFEKENDPTVLRSP +SAGKLTQYTVEDGGHVEAGSSYAEMEVMKMIMTLNVQERGRVKYIKRPGAVLEAGCVVARLELDDPSKVHPAEPFTGELPAQQTLPILGEKLHQVFHSVL +ENLTNVMSGFCLPEPVFSIKLKEWVQKLMMTLRHPSLPLLELQEIMTSVAGRIPAPVEKSVRRVMAQYASNITSVLCQFPSQQIATILDCHAATLQRKAD +REVFFINTQSIVQLVQRYRSGIRGYMKTVVLDLLRRYLRVEHHFQQAHYDKCVINLREQFKPDMSQVLDCIFSHAQVAKKNQLVIMLIDELCGPDPSLSD +ELISILNELTQLSKSEHCKVALRARQILIASHLPSYELRHNQVESIFLSAIDMYGHQFCPENLKKLILSETTIFDVLPTFFYHANKVVCMASLEVYVRRG +YIAYELNSLQHRQLPDGTCVVEFQFMLPSSHPNRMTVPISITNPDLLRHSTELFMDSGFSPLCQRMGAMVAFRRFEDFTRNFDEVISCFANVPKDTPLFS +EARTSLYSEDDCKSLREEPIHILNVSIQCADHLEDEALVPILRTFVQSKKNILVDYGLRRITFLIAQEKEFPKFFTFRARDEFAEDRIYRHLEPALAFQL +ELNRMRNFDLTAVPCANHKMHLYLGAAKVKEGVEVTDHRFFIRAIIRHSDLITKEASFEYLQNEGERLLLEAMDELEVAFNNTSVRTDCNHIFLNFVPTV +IMDPFKIEESVRYMVMRYGSRLWKLRVLQAEVKINIRQTTTGSAVPIRLFITNESGYYLDISLYKEVTDSRSGNIMFHSFGNKQGPQHGMLINTPYVTKD +LLQAKRFQAQTLGTTYIYDFPEMFRQALFKLWGSPDKYPKDILTYTELVLDSQGQLVEMNRLPGGNEVGMVAFKMRFKTQEYPEGRDVIVIGNDITFRIG +SFGPGEDLLYLRASEMARAEGIPKIYVAANSGARIGMAEEIKHMFHVAWVDPEDPHKGFKYLYLTPQDYTRISSLNSVHCKHIEEGGESRYMITDIIGKD +DGLGVENLRGSGMIAGESSLAYEEIVTISLVTCRAIGIGAYLVRLGQRVIQVENSHIILTGASALNKVLGREVYTSNNQLGGVQIMHYNGVSHITVPDDF +EGVYTILEWLSYMPKDNHSPVPIITPTDPIDREIEFLPSRAPYDPRWMLAGRPHPTLKGTWQSGFFDHGSFKEIMAPWAQTVVTGRARLGGIPVGVIAVE +TRTVEVAVPADPANLDSEAKIIQQAGQVWFPDSAYKTAQAVKDFNREKLPLMIFANWRGFSGGMKDMYDQVLKFGAYIVDGLRQYKQPILIYIPPYAELR +GGSWVVIDATINPLCIEMYADKESRGGVLEPEGTVEIKFRKKDLIKSMRRIDPAYKKLMEQLGEPDLSDKDRKDLEGRLKAREDLLLPIYHQVAVQFADF +HDTPGRMLEKGVISDILEWKTARTFLYWRLRRLLLEDQVKQEILQASGELSHVHIQSMLRRWFVETEGAVKAYLWDNNQVVVQWLEQHWQAGDGPRSTIR +ENITYLKHDSVLKTIRGLVEENPEVAVDCVIYLSQHISPAERAQVVHLLSTMDSPAST* +>line27448 NM_001093 c.3679_3695del p.I1227Pfs*8 protein-altering (position 1227-2458 changed from ILIASHLPSYELRHNQVESIFLSAIDMYGHQFCPENLKKLILSETTIFDVLPTFFYHANKVVCMASLEVYVRRGYIAYELNSLQHRQLPDGTCVVEFQFMLPSSHPNRMTVPISITNPDLLRHSTELFMDSGFSPLCQRMGAMVAFRRFEDFTRNFDEVISCFANVPKDTPLFSEARTSLYSEDDCKSLREEPIHILNVSIQCADHLEDEALVPILRTFVQSKKNILVDYGLRRITFLIAQEKEFPKFFTFRARDEFAEDRIYRHLEPALAFQLELNRMRNFDLTAVPCANHKMHLYLGAAKVKEGVEVTDHRFFIRAIIRHSDLITKEASFEYLQNEGERLLLEAMDELEVAFNNTSVRTDCNHIFLNFVPTVIMDPFKIEESVRYMVMRYGSRLWKLRVLQAEVKINIRQTTTGSAVPIRLFITNESGYYLDISLYKEVTDSRSGNIMFHSFGNKQGPQHGMLINTPYVTKDLLQAKRFQAQTLGTTYIYDFPEMFRQALFKLWGSPDKYPKDILTYTELVLDSQGQLVEMNRLPGGNEVGMVAFKMRFKTQEYPEGRDVIVIGNDITFRIGSFGPGEDLLYLRASEMARAEGIPKIYVAANSGARIGMAEEIKHMFHVAWVDPEDPHKGFKYLYLTPQDYTRISSLNSVHCKHIEEGGESRYMITDIIGKDDGLGVENLRGSGMIAGESSLAYEEIVTISLVTCRAIGIGAYLVRLGQRVIQVENSHIILTGASALNKVLGREVYTSNNQLGGVQIMHYNGVSHITVPDDFEGVYTILEWLSYMPKDNHSPVPIITPTDPIDREIEFLPSRAPYDPRWMLAGRPHPTLKGTWQSGFFDHGSFKEIMAPWAQTVVTGRARLGGIPVGVIAVETRTVEVAVPADPANLDSEAKIIQQAGQVWFPDSAYKTAQAVKDFNREKLPLMIFANWRGFSGGMKDMYDQVLKFGAYIVDGLRQYKQPILIYIPPYAELRGGSWVVIDATINPLCIEMYADKESRGGVLEPEGTVEIKFRKKDLIKSMRRIDPAYKKLMEQLGEPDLSDKDRKDLEGRLKAREDLLLPIYHQVAVQFADFHDTPGRMLEKGVISDILEWKTARTFLYWRLRRLLLEDQVKQEILQASGELSHVHIQSMLRRWFVETEGAVKAYLWDNNQVVVQWLEQHWQAGDGPRSTIRENITYLKHDSVLKTIRGLVEENPEVAVDCVIYLSQHISPAERAQVVHLLSTMDSPAST to PPLLRAAA) +MVLLLCLSCLIFSCLTFSWLKIWGKMTDSKPITKSKSEANLIPSQEPFPASDNSGETPQRNGEGHTLPKTPSQAEPASHKGPKDAGRRRNSLPPSHQKPP +RNPLSSSDAAPSPELQANGTGTQGLEATDTNGLSSSARPQGQQAGSPSKEDKKQANIKRQLMTNFILGSFDDYSSDEDSVAGSSRESTRKGSRASLGALS +LEAYLTTGEAETRVPTMRPSMSGLHLVKRGREHKKLDLHRDFTVASPAEFVTRFGGDRVIEKVLIANNGIAAVKCMRSIRRWAYEMFRNERAIRFVVMVT +PEDLKANAEYIKMADHYVPVPGGPNNNNYANVELIVDIAKRIPVQAVWAGWGHASENPKLPELLCKNGVAFLGPPSEAMWALGDKIASTVVAQTLQVPTL +PWSGSGLTVEWTEDDLQQGKRISVPEDVYDKGCVKDVDEGLEAAERIGFPLMIKASEGGGGKGIRKAESAEDFPILFRQVQSEIPGSPIFLMKLAQHARH +LEVQILADQYGNAVSLFGRDCSIQRRHQKIVEEAPATIAPLAIFEFMEQCAIRLAKTVGYVSAGTVEYLYSQDGSFHFLELNPRLQVEHPCTEMIADVNL +PAAQLQIAMGVPLHRLKDIRLLYGESPWGVTPISFETPSNPPLARGHVIAARITSENPDEGFKPSSGTVQELNFRSSKNVWGYFSVAATGGLHEFADSQF +GHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLINLLETESFQNNDIDTGWLDYLIAEKVQAEKPDIMLGVVCGALNVADAMFRTCMTDFLHSLER +GQVLPADSLLNLVDVELIYGGVKYILKVARQSLTMFVLIMNGCHIEIDAHRLNDGGLLLSYNGNSYTTYMKEEVDSYRITIGNKTCVFEKENDPTVLRSP +SAGKLTQYTVEDGGHVEAGSSYAEMEVMKMIMTLNVQERGRVKYIKRPGAVLEAGCVVARLELDDPSKVHPAEPFTGELPAQQTLPILGEKLHQVFHSVL +ENLTNVMSGFCLPEPVFSIKLKEWVQKLMMTLRHPSLPLLELQEIMTSVAGRIPAPVEKSVRRVMAQYASNITSVLCQFPSQQIATILDCHAATLQRKAD +REVFFINTQSIVQLVQRYRSGIRGYMKTVVLDLLRRYLRVEHHFQQAHYDKCVINLREQFKPDMSQVLDCIFSHAQVAKKNQLVIMLIDELCGPDPSLSD +ELISILNELTQLSKSEHCKVALRARQPPLLRAAA* +>line27495 NM_015267 WILDTYPE +MAANVGSMFQYWKRFDLRRLQKELNSVASELSARQEESEHSHKHLIELRREFKKNVPEEIREMVAPVLKSFQAEVVALSKRSQEAEAAFLSVYKQLIEAP +DPVPVFEAARSLDDRLQPPSFDPSGQPRRDLHTSWKRNPELLSPKEQREGTSPAGPTLTEGSRLPGIPGKALLTETLLQRNEAEKQKGLQEVQITLAARL +GEAEEKIKVLHSALKATQAELLELRRKYDEEAASKADEVGLIMTNLEKANQRAEAAQREVESLREQLASVNSSIRLACCSPQGPSGDKVNFTLCSGPRLE +AALASKDREILRLLKDVQHLQSSLQELEEASANQIADLERQLTAKSEAIEKLEEKLQAQSDYEEIKTELSILKAMKLASSTCSLPQGMAKPEDSLLIAKE +AFFPTQKFLLEKPSLLASPEEDPSEDDSIKDSLGTEQSYPSPQQLPPPPGPEDPLSPSPGQPLLGPSLGPDGTRTFSLSPFPSLASGERLMMPPAAFKGE +AGGLLVFPPAFYGAKPPTAPATPAPGPEPLGGPEPADGGGGGAAGPGAEEEQLDTAEIAFQVKEQLLKHNIGQRVFGHYVLGLSQGSVSEILARPKPWRK +LTVKGKEPFIKMKQFLSDEQNVLALRTIQVRQRGSITPRIRTPETGSDDAIKSILEQAKKEIESQKGGEPKTSVAPLSIANGTTPASTSEDAIKSILEQA +RREMQAQQQALLEMEVAPRGRSVPPSPPERPSLATASQNGAPALVKQEEGSGGPAQAPLPVLSPAAFVQSIIRKVKSEIGDAGYFDHHWASDRGLLSRPY +ASVSPSLSSSSSSGYSGQPNGRAWPRGDEAPVPPEDEAAAGAEDEPPRTGELKAEGATAEAGARLPYYPAYVPRTLKPTVPPLTPEQYELYMYREVDTLE +LTRQVKEKLAKNGICQRIFGEKVLGLSQGSVSDMLSRPKPWSKLTQKGREPFIRMQLWLSDQLGQAVGQQPGASQASPTEPRSSPSPPPSPTEPEKSSQE +PLSLSLESSKENQQPEGRSSSSLSGKMYSGSQAPGGIQEIVAMSPELDTYSITKRVKEVLTDNNLGQRLFGESILGLTQGSVSDLLSRPKPWHKLSLKGR +EPFVRMQLWLNDPHNVEKLRDMKKLEKKAYLKRRYGLISTGSDSESPATRSECPSPCLQPQDLSLLQIKKPRVVLAPEEKEALRKAYQLEPYPSQQTIEL +LSFQLNLKTNTVINWFHNYRSRMRREMLVEGTQDEPDLDPSGGPGILPPGHSHPDPTPQSPDSETEDQKPTVKELELQEGPEENSTPLTTQDKAQVRIKQ +EQMEEDAEEEAGSQPQDSGELDKGQGPPKEEHPDPPGNDGLPKVAPGPLLPGGSTPDCPSLHPQQESEAGERLHPDPLSFKSASESSRCSLEVSLNSPSA +ASSPGLMMSVSPVPSSSAPISPSPPGAPPAKVPSASPTADMAGALHPSAKVNPNLQRRHEKMANLNNIIYRVERAANREEALEWEF* +>line27495 NM_015267 c.2422_2424del p.S813del protein-altering (position 813 changed from S to ) +MAANVGSMFQYWKRFDLRRLQKELNSVASELSARQEESEHSHKHLIELRREFKKNVPEEIREMVAPVLKSFQAEVVALSKRSQEAEAAFLSVYKQLIEAP +DPVPVFEAARSLDDRLQPPSFDPSGQPRRDLHTSWKRNPELLSPKEQREGTSPAGPTLTEGSRLPGIPGKALLTETLLQRNEAEKQKGLQEVQITLAARL +GEAEEKIKVLHSALKATQAELLELRRKYDEEAASKADEVGLIMTNLEKANQRAEAAQREVESLREQLASVNSSIRLACCSPQGPSGDKVNFTLCSGPRLE +AALASKDREILRLLKDVQHLQSSLQELEEASANQIADLERQLTAKSEAIEKLEEKLQAQSDYEEIKTELSILKAMKLASSTCSLPQGMAKPEDSLLIAKE +AFFPTQKFLLEKPSLLASPEEDPSEDDSIKDSLGTEQSYPSPQQLPPPPGPEDPLSPSPGQPLLGPSLGPDGTRTFSLSPFPSLASGERLMMPPAAFKGE +AGGLLVFPPAFYGAKPPTAPATPAPGPEPLGGPEPADGGGGGAAGPGAEEEQLDTAEIAFQVKEQLLKHNIGQRVFGHYVLGLSQGSVSEILARPKPWRK +LTVKGKEPFIKMKQFLSDEQNVLALRTIQVRQRGSITPRIRTPETGSDDAIKSILEQAKKEIESQKGGEPKTSVAPLSIANGTTPASTSEDAIKSILEQA +RREMQAQQQALLEMEVAPRGRSVPPSPPERPSLATASQNGAPALVKQEEGSGGPAQAPLPVLSPAAFVQSIIRKVKSEIGDAGYFDHHWASDRGLLSRPY +ASVSPSLSSSSSGYSGQPNGRAWPRGDEAPVPPEDEAAAGAEDEPPRTGELKAEGATAEAGARLPYYPAYVPRTLKPTVPPLTPEQYELYMYREVDTLEL +TRQVKEKLAKNGICQRIFGEKVLGLSQGSVSDMLSRPKPWSKLTQKGREPFIRMQLWLSDQLGQAVGQQPGASQASPTEPRSSPSPPPSPTEPEKSSQEP +LSLSLESSKENQQPEGRSSSSLSGKMYSGSQAPGGIQEIVAMSPELDTYSITKRVKEVLTDNNLGQRLFGESILGLTQGSVSDLLSRPKPWHKLSLKGRE +PFVRMQLWLNDPHNVEKLRDMKKLEKKAYLKRRYGLISTGSDSESPATRSECPSPCLQPQDLSLLQIKKPRVVLAPEEKEALRKAYQLEPYPSQQTIELL +SFQLNLKTNTVINWFHNYRSRMRREMLVEGTQDEPDLDPSGGPGILPPGHSHPDPTPQSPDSETEDQKPTVKELELQEGPEENSTPLTTQDKAQVRIKQE +QMEEDAEEEAGSQPQDSGELDKGQGPPKEEHPDPPGNDGLPKVAPGPLLPGGSTPDCPSLHPQQESEAGERLHPDPLSFKSASESSRCSLEVSLNSPSAA +SSPGLMMSVSPVPSSSAPISPSPPGAPPAKVPSASPTADMAGALHPSAKVNPNLQRRHEKMANLNNIIYRVERAANREEALEWEF* +>line27608 NM_001270486 WILDTYPE +MSSCVSSQPSSNRAAPQDELGGRGSSSSESQKPCEALRGLSSLSIHLGMESFIVVTECEPGCAVDLGLARDRPLEADGQEVPLDTSGSQARPHLSGRKLS +LQERSQGGLAAGGSLDMNGRCICPSLPYSPVSSPQSSPRLPRRPTVESHHVSITGMQDCVQLNQYTLKDEIGKGSYGVVKLAYNENDNTYYAMKVLSKKK +LIRQAGFPRRPPPRGTRPAPGGCIQPRGPIEQVYQEIAILKKLDHPNVVKLVEVLDDPNEDHLYMVFELVNQGPVMEVPTLKPLSEDQARFYFQDLIKGI +EYLHYQKIIHRDIKPSNLLVGEDGHIKIADFGVSNEFKGSDALLSNTVGTPAFMAPESLSETRKIFSGKALDVWAMGVTLYCFVFGQCPFMDERIMCLHS +KIKSQALEFPDQPDIAEDLKDLITRMLDKNPESRIVVPEIKLHPWVTRHGAEPLPSEDENCTLVEVTEEEVENSVKHIPSLATVILVKTMIRKRSFGNPF +EGSRREERSLSAPGNLLTKKPTRECESLSELKGTKKKKGLDSMTSTVAAGWLDRRV* +>line27608 NM_001270486 c.1613_1614del p.K538Rfs*2 protein-altering (position 538-556 changed from KGLDSMTSTVAAGWLDRRV to RT) +MSSCVSSQPSSNRAAPQDELGGRGSSSSESQKPCEALRGLSSLSIHLGMESFIVVTECEPGCAVDLGLARDRPLEADGQEVPLDTSGSQARPHLSGRKLS +LQERSQGGLAAGGSLDMNGRCICPSLPYSPVSSPQSSPRLPRRPTVESHHVSITGMQDCVQLNQYTLKDEIGKGSYGVVKLAYNENDNTYYAMKVLSKKK +LIRQAGFPRRPPPRGTRPAPGGCIQPRGPIEQVYQEIAILKKLDHPNVVKLVEVLDDPNEDHLYMVFELVNQGPVMEVPTLKPLSEDQARFYFQDLIKGI +EYLHYQKIIHRDIKPSNLLVGEDGHIKIADFGVSNEFKGSDALLSNTVGTPAFMAPESLSETRKIFSGKALDVWAMGVTLYCFVFGQCPFMDERIMCLHS +KIKSQALEFPDQPDIAEDLKDLITRMLDKNPESRIVVPEIKLHPWVTRHGAEPLPSEDENCTLVEVTEEEVENSVKHIPSLATVILVKTMIRKRSFGNPF +EGSRREERSLSAPGNLLTKKPTRECESLSELKGTKKKRT* +>line27689 NM_001206654 WILDTYPE +MSGSTQPVAQTWRATEPRYPPHSLSYPVQIARTHTDVGLLEYQHHSRDYASHLSPGSIIQPQRRRPSLLSEFQPGNERSQELHLRPESHSYLPELGKSEM +EFIESKRPRLELLPDPLLRPSPLLATGQPAGSEDLTKDRSLTGKLEPVSPPSPPHTDPELELVPPRLSKEELIQNMDRVDREITMVEQQISKLKKKQQQL +EEEAAKPPEPEKPVSPPPIESKHRSLVQIIYDENRKKAEAAHRILEGLGPQVELPLYNQPSDTRQYHENIKINQAMRKKLILYFKRRNHARKQWEQKFCQ +RYDQLMEAWEKKVERIENNPRRRAKESKVREYYEKQFPEIRKQRELQERMQRVGQRGSGLSMSAARSEHEVSEIIDGLSEQENLEKQMRQLAVIPPMLYD +ADQQRIKFINMNGLMADPMKVYKDRQVMNMWSEQEKETFREKFMQHPKNFGLIASFLERKTVAECVLYYYLTKKNENYKSLVRRSYRRRGKSQQQQQQQQ +QQQQQQQQQPMPRSSQEEKDEKEKEKEAEKEEEKPEVENDKEDLLKEKTDDTSGEDNDEKEAVASKGRKTANSQGRRKGRITRSMANEANSEEAITPQQS +AELASMELNESSRWTEEEMETAKKGLLEHGRNWSAIARMVGSKTVSQCKNFYFNYKKRQNLDEILQQHKLKMEKERNARRKKKKAPAAASEEAAFPPVVE +DEEMEASGVSGNEEEMVEEAEATVNNSSDTESIPSPHTEAAKDTGQNGPKPPATLGADGPPPGPPTPPPEDIPAPTEPTPASEATGAPTPPPAPPSPSAP +PPVVPKEEKEEETAAAPPVEEGEEQKPPAAEELAVDTGKAEEPVKSECTEEAEEGPAKGKDAEAAEATAEGALKAEKKEGGSGRATTAKSSGAPQDSDSS +ATCSADEVDEAEGGDKNRLLSPRPSLLTPTGDPRANASPQKPLDLKQLKQRAAAIPPIQVTKVHEPPREDAAPTKPAPPAPPPPQNLQPESDAPQQPGSS +PRGKSRSPAPPADKEAEKPVFFPAFAAEAQKLPGDPPCWTSGLPFPVPPREVIKASPHAPDPSAFSYAPPGHPLPLGLHDTARPVLPRPPTISNPPPLIS +SAKHPSVLERQIGAISQGMSVQLHVPYSEHAKAPVGPVTMGLPLPMDPKKLAPFSGVKQEQLSPRGQAGPPESLGVPTAQEASVLRGTALGSVPGGSITK +GIPSTRVPSDSAITYRGSITHGTPADVLYKGTITRIIGEDSPSRLDRGREDSLPKGHVIYEGKKGHVLSYEGGMSVTQCSKEDGRSSSGPPHETAAPKRT +YDMMEGRVGRAISSASIEGLMGRAIPPERHSPHHLKEQHHIRGSITQGIPRSYVEAQEDYLRREAKLLKREGTPPPPPPSRDLTEAYKTQALGPLKLKPA +HEGLVATVKEAGRSIHEIPREELRHTPELPLAPRPLKEGSITQGTPLKYDTGASTTGSKKHDVRSLIGSPGRTFPPVHPLDVMADARALERACYEESLKS +RPGTASSSGGSIARGAPVIVPELGKPRQSPLTYEDHGAPFAGHLPRGSPVTTREPTPRLQEGSLSSSKASQDRKLTSTPREIAKSPHSTVPEHHPHPISP +YEHLLRGVSGVDLYRSHIPLAFDPTSIPRGIPLDAAAAYYLPRHLAPNPTYPHLYPPYLIRGYPDTAALENRQTIINDYITSQQMHHNAATAMAQRADML +RGLSPRESSLALNYAAGPRGIIDLSQVPHLPVLVPPTPGTPATAMDRLAYLPTAPQPFSSRHSSSPLSPGGPTHLTKPTTTSSSERERDRDRERDRDRER +EKSILTSTTTVEHAPIWRPGTEQSSGSSGGGGGSSSRPASHSHAHQHSPISPRTQDALQQRPSVLHNTGMKGIITAVEPSTPTVLRSTSTSSPVRPAATF +PPATHCPLGGTLDGVYPTLMEPVLLPKEAPRVARPERPRADTGHAFLAKPPARSGLEPASSPSKGSEPRPLVPPVSGHATIARTPAKNLAPHHASPDPPA +PPASASDPHREKTQSKPFSIQELELRSLGYHGSSYSPEGVEPVSPVSSPSLTHDKGLPKHLEELDKSHLEGELRPKQPGPVKLGGEAAHLPHLRPLPESQ +PSSSPLLQTAPGVKGHQRVVTLAQHISEVITQDYTRHHPQQLSAPLPAPLYSFPGASCPVLDLRRPPSDLYLPPPDHGAPARGSPHSEGGKRSPEPNKTS +VLGGGEDGIEPVSPPEGMTEPGHSRSAVYPLLYRDGEQTEPSRMGSKSPGNTSQPPAFFSKLTESNSAMVKSKKQEINKKLNTHNRNEPEYNISQPGTEI +FNMPAITGTGLMTYRSQAVQEHASTNMGLEAIIRKALMGKYDQWEESPPLSANAFNPLNASASLPAAMPITAADGRSDHTLTSPGGGGKAKVSGRPSSRK +AKSPAPGLASGDRPPSVSSVHSEGDCNRRTPLTNRVWEDRPSSAGSTPFPYNPLIMRLQAGVMASPPPPGLPAGSGPLAGPHHAWDEEPKPLLCSQYETL +SDSE* +>line27689 NM_001206654 c.5487_5488insAGCAGCGGC p.G1829_G1830insSSG protein-altering (position 1829-1830 has insertion SSG) +MSGSTQPVAQTWRATEPRYPPHSLSYPVQIARTHTDVGLLEYQHHSRDYASHLSPGSIIQPQRRRPSLLSEFQPGNERSQELHLRPESHSYLPELGKSEM +EFIESKRPRLELLPDPLLRPSPLLATGQPAGSEDLTKDRSLTGKLEPVSPPSPPHTDPELELVPPRLSKEELIQNMDRVDREITMVEQQISKLKKKQQQL +EEEAAKPPEPEKPVSPPPIESKHRSLVQIIYDENRKKAEAAHRILEGLGPQVELPLYNQPSDTRQYHENIKINQAMRKKLILYFKRRNHARKQWEQKFCQ +RYDQLMEAWEKKVERIENNPRRRAKESKVREYYEKQFPEIRKQRELQERMQRVGQRGSGLSMSAARSEHEVSEIIDGLSEQENLEKQMRQLAVIPPMLYD +ADQQRIKFINMNGLMADPMKVYKDRQVMNMWSEQEKETFREKFMQHPKNFGLIASFLERKTVAECVLYYYLTKKNENYKSLVRRSYRRRGKSQQQQQQQQ +QQQQQQQQQPMPRSSQEEKDEKEKEKEAEKEEEKPEVENDKEDLLKEKTDDTSGEDNDEKEAVASKGRKTANSQGRRKGRITRSMANEANSEEAITPQQS +AELASMELNESSRWTEEEMETAKKGLLEHGRNWSAIARMVGSKTVSQCKNFYFNYKKRQNLDEILQQHKLKMEKERNARRKKKKAPAAASEEAAFPPVVE +DEEMEASGVSGNEEEMVEEAEATVNNSSDTESIPSPHTEAAKDTGQNGPKPPATLGADGPPPGPPTPPPEDIPAPTEPTPASEATGAPTPPPAPPSPSAP +PPVVPKEEKEEETAAAPPVEEGEEQKPPAAEELAVDTGKAEEPVKSECTEEAEEGPAKGKDAEAAEATAEGALKAEKKEGGSGRATTAKSSGAPQDSDSS +ATCSADEVDEAEGGDKNRLLSPRPSLLTPTGDPRANASPQKPLDLKQLKQRAAAIPPIQVTKVHEPPREDAAPTKPAPPAPPPPQNLQPESDAPQQPGSS +PRGKSRSPAPPADKEAEKPVFFPAFAAEAQKLPGDPPCWTSGLPFPVPPREVIKASPHAPDPSAFSYAPPGHPLPLGLHDTARPVLPRPPTISNPPPLIS +SAKHPSVLERQIGAISQGMSVQLHVPYSEHAKAPVGPVTMGLPLPMDPKKLAPFSGVKQEQLSPRGQAGPPESLGVPTAQEASVLRGTALGSVPGGSITK +GIPSTRVPSDSAITYRGSITHGTPADVLYKGTITRIIGEDSPSRLDRGREDSLPKGHVIYEGKKGHVLSYEGGMSVTQCSKEDGRSSSGPPHETAAPKRT +YDMMEGRVGRAISSASIEGLMGRAIPPERHSPHHLKEQHHIRGSITQGIPRSYVEAQEDYLRREAKLLKREGTPPPPPPSRDLTEAYKTQALGPLKLKPA +HEGLVATVKEAGRSIHEIPREELRHTPELPLAPRPLKEGSITQGTPLKYDTGASTTGSKKHDVRSLIGSPGRTFPPVHPLDVMADARALERACYEESLKS +RPGTASSSGGSIARGAPVIVPELGKPRQSPLTYEDHGAPFAGHLPRGSPVTTREPTPRLQEGSLSSSKASQDRKLTSTPREIAKSPHSTVPEHHPHPISP +YEHLLRGVSGVDLYRSHIPLAFDPTSIPRGIPLDAAAAYYLPRHLAPNPTYPHLYPPYLIRGYPDTAALENRQTIINDYITSQQMHHNAATAMAQRADML +RGLSPRESSLALNYAAGPRGIIDLSQVPHLPVLVPPTPGTPATAMDRLAYLPTAPQPFSSRHSSSPLSPGGPTHLTKPTTTSSSERERDRDRERDRDRER +EKSILTSTTTVEHAPIWRPGTEQSSGSSGSSGGGGGSSSRPASHSHAHQHSPISPRTQDALQQRPSVLHNTGMKGIITAVEPSTPTVLRSTSTSSPVRPA +ATFPPATHCPLGGTLDGVYPTLMEPVLLPKEAPRVARPERPRADTGHAFLAKPPARSGLEPASSPSKGSEPRPLVPPVSGHATIARTPAKNLAPHHASPD +PPAPPASASDPHREKTQSKPFSIQELELRSLGYHGSSYSPEGVEPVSPVSSPSLTHDKGLPKHLEELDKSHLEGELRPKQPGPVKLGGEAAHLPHLRPLP +ESQPSSSPLLQTAPGVKGHQRVVTLAQHISEVITQDYTRHHPQQLSAPLPAPLYSFPGASCPVLDLRRPPSDLYLPPPDHGAPARGSPHSEGGKRSPEPN +KTSVLGGGEDGIEPVSPPEGMTEPGHSRSAVYPLLYRDGEQTEPSRMGSKSPGNTSQPPAFFSKLTESNSAMVKSKKQEINKKLNTHNRNEPEYNISQPG +TEIFNMPAITGTGLMTYRSQAVQEHASTNMGLEAIIRKALMGKYDQWEESPPLSANAFNPLNASASLPAAMPITAADGRSDHTLTSPGGGGKAKVSGRPS +SRKAKSPAPGLASGDRPPSVSSVHSEGDCNRRTPLTNRVWEDRPSSAGSTPFPYNPLIMRLQAGVMASPPPPGLPAGSGPLAGPHHAWDEEPKPLLCSQY +ETLSDSE* +>line27691 NM_001206654 WILDTYPE +MSGSTQPVAQTWRATEPRYPPHSLSYPVQIARTHTDVGLLEYQHHSRDYASHLSPGSIIQPQRRRPSLLSEFQPGNERSQELHLRPESHSYLPELGKSEM +EFIESKRPRLELLPDPLLRPSPLLATGQPAGSEDLTKDRSLTGKLEPVSPPSPPHTDPELELVPPRLSKEELIQNMDRVDREITMVEQQISKLKKKQQQL +EEEAAKPPEPEKPVSPPPIESKHRSLVQIIYDENRKKAEAAHRILEGLGPQVELPLYNQPSDTRQYHENIKINQAMRKKLILYFKRRNHARKQWEQKFCQ +RYDQLMEAWEKKVERIENNPRRRAKESKVREYYEKQFPEIRKQRELQERMQRVGQRGSGLSMSAARSEHEVSEIIDGLSEQENLEKQMRQLAVIPPMLYD +ADQQRIKFINMNGLMADPMKVYKDRQVMNMWSEQEKETFREKFMQHPKNFGLIASFLERKTVAECVLYYYLTKKNENYKSLVRRSYRRRGKSQQQQQQQQ +QQQQQQQQQPMPRSSQEEKDEKEKEKEAEKEEEKPEVENDKEDLLKEKTDDTSGEDNDEKEAVASKGRKTANSQGRRKGRITRSMANEANSEEAITPQQS +AELASMELNESSRWTEEEMETAKKGLLEHGRNWSAIARMVGSKTVSQCKNFYFNYKKRQNLDEILQQHKLKMEKERNARRKKKKAPAAASEEAAFPPVVE +DEEMEASGVSGNEEEMVEEAEATVNNSSDTESIPSPHTEAAKDTGQNGPKPPATLGADGPPPGPPTPPPEDIPAPTEPTPASEATGAPTPPPAPPSPSAP +PPVVPKEEKEEETAAAPPVEEGEEQKPPAAEELAVDTGKAEEPVKSECTEEAEEGPAKGKDAEAAEATAEGALKAEKKEGGSGRATTAKSSGAPQDSDSS +ATCSADEVDEAEGGDKNRLLSPRPSLLTPTGDPRANASPQKPLDLKQLKQRAAAIPPIQVTKVHEPPREDAAPTKPAPPAPPPPQNLQPESDAPQQPGSS +PRGKSRSPAPPADKEAEKPVFFPAFAAEAQKLPGDPPCWTSGLPFPVPPREVIKASPHAPDPSAFSYAPPGHPLPLGLHDTARPVLPRPPTISNPPPLIS +SAKHPSVLERQIGAISQGMSVQLHVPYSEHAKAPVGPVTMGLPLPMDPKKLAPFSGVKQEQLSPRGQAGPPESLGVPTAQEASVLRGTALGSVPGGSITK +GIPSTRVPSDSAITYRGSITHGTPADVLYKGTITRIIGEDSPSRLDRGREDSLPKGHVIYEGKKGHVLSYEGGMSVTQCSKEDGRSSSGPPHETAAPKRT +YDMMEGRVGRAISSASIEGLMGRAIPPERHSPHHLKEQHHIRGSITQGIPRSYVEAQEDYLRREAKLLKREGTPPPPPPSRDLTEAYKTQALGPLKLKPA +HEGLVATVKEAGRSIHEIPREELRHTPELPLAPRPLKEGSITQGTPLKYDTGASTTGSKKHDVRSLIGSPGRTFPPVHPLDVMADARALERACYEESLKS +RPGTASSSGGSIARGAPVIVPELGKPRQSPLTYEDHGAPFAGHLPRGSPVTTREPTPRLQEGSLSSSKASQDRKLTSTPREIAKSPHSTVPEHHPHPISP +YEHLLRGVSGVDLYRSHIPLAFDPTSIPRGIPLDAAAAYYLPRHLAPNPTYPHLYPPYLIRGYPDTAALENRQTIINDYITSQQMHHNAATAMAQRADML +RGLSPRESSLALNYAAGPRGIIDLSQVPHLPVLVPPTPGTPATAMDRLAYLPTAPQPFSSRHSSSPLSPGGPTHLTKPTTTSSSERERDRDRERDRDRER +EKSILTSTTTVEHAPIWRPGTEQSSGSSGGGGGSSSRPASHSHAHQHSPISPRTQDALQQRPSVLHNTGMKGIITAVEPSTPTVLRSTSTSSPVRPAATF +PPATHCPLGGTLDGVYPTLMEPVLLPKEAPRVARPERPRADTGHAFLAKPPARSGLEPASSPSKGSEPRPLVPPVSGHATIARTPAKNLAPHHASPDPPA +PPASASDPHREKTQSKPFSIQELELRSLGYHGSSYSPEGVEPVSPVSSPSLTHDKGLPKHLEELDKSHLEGELRPKQPGPVKLGGEAAHLPHLRPLPESQ +PSSSPLLQTAPGVKGHQRVVTLAQHISEVITQDYTRHHPQQLSAPLPAPLYSFPGASCPVLDLRRPPSDLYLPPPDHGAPARGSPHSEGGKRSPEPNKTS +VLGGGEDGIEPVSPPEGMTEPGHSRSAVYPLLYRDGEQTEPSRMGSKSPGNTSQPPAFFSKLTESNSAMVKSKKQEINKKLNTHNRNEPEYNISQPGTEI +FNMPAITGTGLMTYRSQAVQEHASTNMGLEAIIRKALMGKYDQWEESPPLSANAFNPLNASASLPAAMPITAADGRSDHTLTSPGGGGKAKVSGRPSSRK +AKSPAPGLASGDRPPSVSSVHSEGDCNRRTPLTNRVWEDRPSSAGSTPFPYNPLIMRLQAGVMASPPPPGLPAGSGPLAGPHHAWDEEPKPLLCSQYETL +SDSE* +>line27691 NM_001206654 c.1528_1529insAGC p.Q509_P510insQ protein-altering (position 509-510 has insertion Q) +MSGSTQPVAQTWRATEPRYPPHSLSYPVQIARTHTDVGLLEYQHHSRDYASHLSPGSIIQPQRRRPSLLSEFQPGNERSQELHLRPESHSYLPELGKSEM +EFIESKRPRLELLPDPLLRPSPLLATGQPAGSEDLTKDRSLTGKLEPVSPPSPPHTDPELELVPPRLSKEELIQNMDRVDREITMVEQQISKLKKKQQQL +EEEAAKPPEPEKPVSPPPIESKHRSLVQIIYDENRKKAEAAHRILEGLGPQVELPLYNQPSDTRQYHENIKINQAMRKKLILYFKRRNHARKQWEQKFCQ +RYDQLMEAWEKKVERIENNPRRRAKESKVREYYEKQFPEIRKQRELQERMQRVGQRGSGLSMSAARSEHEVSEIIDGLSEQENLEKQMRQLAVIPPMLYD +ADQQRIKFINMNGLMADPMKVYKDRQVMNMWSEQEKETFREKFMQHPKNFGLIASFLERKTVAECVLYYYLTKKNENYKSLVRRSYRRRGKSQQQQQQQQ +QQQQQQQQQQPMPRSSQEEKDEKEKEKEAEKEEEKPEVENDKEDLLKEKTDDTSGEDNDEKEAVASKGRKTANSQGRRKGRITRSMANEANSEEAITPQQ +SAELASMELNESSRWTEEEMETAKKGLLEHGRNWSAIARMVGSKTVSQCKNFYFNYKKRQNLDEILQQHKLKMEKERNARRKKKKAPAAASEEAAFPPVV +EDEEMEASGVSGNEEEMVEEAEATVNNSSDTESIPSPHTEAAKDTGQNGPKPPATLGADGPPPGPPTPPPEDIPAPTEPTPASEATGAPTPPPAPPSPSA +PPPVVPKEEKEEETAAAPPVEEGEEQKPPAAEELAVDTGKAEEPVKSECTEEAEEGPAKGKDAEAAEATAEGALKAEKKEGGSGRATTAKSSGAPQDSDS +SATCSADEVDEAEGGDKNRLLSPRPSLLTPTGDPRANASPQKPLDLKQLKQRAAAIPPIQVTKVHEPPREDAAPTKPAPPAPPPPQNLQPESDAPQQPGS +SPRGKSRSPAPPADKEAEKPVFFPAFAAEAQKLPGDPPCWTSGLPFPVPPREVIKASPHAPDPSAFSYAPPGHPLPLGLHDTARPVLPRPPTISNPPPLI +SSAKHPSVLERQIGAISQGMSVQLHVPYSEHAKAPVGPVTMGLPLPMDPKKLAPFSGVKQEQLSPRGQAGPPESLGVPTAQEASVLRGTALGSVPGGSIT +KGIPSTRVPSDSAITYRGSITHGTPADVLYKGTITRIIGEDSPSRLDRGREDSLPKGHVIYEGKKGHVLSYEGGMSVTQCSKEDGRSSSGPPHETAAPKR +TYDMMEGRVGRAISSASIEGLMGRAIPPERHSPHHLKEQHHIRGSITQGIPRSYVEAQEDYLRREAKLLKREGTPPPPPPSRDLTEAYKTQALGPLKLKP +AHEGLVATVKEAGRSIHEIPREELRHTPELPLAPRPLKEGSITQGTPLKYDTGASTTGSKKHDVRSLIGSPGRTFPPVHPLDVMADARALERACYEESLK +SRPGTASSSGGSIARGAPVIVPELGKPRQSPLTYEDHGAPFAGHLPRGSPVTTREPTPRLQEGSLSSSKASQDRKLTSTPREIAKSPHSTVPEHHPHPIS +PYEHLLRGVSGVDLYRSHIPLAFDPTSIPRGIPLDAAAAYYLPRHLAPNPTYPHLYPPYLIRGYPDTAALENRQTIINDYITSQQMHHNAATAMAQRADM +LRGLSPRESSLALNYAAGPRGIIDLSQVPHLPVLVPPTPGTPATAMDRLAYLPTAPQPFSSRHSSSPLSPGGPTHLTKPTTTSSSERERDRDRERDRDRE +REKSILTSTTTVEHAPIWRPGTEQSSGSSGGGGGSSSRPASHSHAHQHSPISPRTQDALQQRPSVLHNTGMKGIITAVEPSTPTVLRSTSTSSPVRPAAT +FPPATHCPLGGTLDGVYPTLMEPVLLPKEAPRVARPERPRADTGHAFLAKPPARSGLEPASSPSKGSEPRPLVPPVSGHATIARTPAKNLAPHHASPDPP +APPASASDPHREKTQSKPFSIQELELRSLGYHGSSYSPEGVEPVSPVSSPSLTHDKGLPKHLEELDKSHLEGELRPKQPGPVKLGGEAAHLPHLRPLPES +QPSSSPLLQTAPGVKGHQRVVTLAQHISEVITQDYTRHHPQQLSAPLPAPLYSFPGASCPVLDLRRPPSDLYLPPPDHGAPARGSPHSEGGKRSPEPNKT +SVLGGGEDGIEPVSPPEGMTEPGHSRSAVYPLLYRDGEQTEPSRMGSKSPGNTSQPPAFFSKLTESNSAMVKSKKQEINKKLNTHNRNEPEYNISQPGTE +IFNMPAITGTGLMTYRSQAVQEHASTNMGLEAIIRKALMGKYDQWEESPPLSANAFNPLNASASLPAAMPITAADGRSDHTLTSPGGGGKAKVSGRPSSR +KAKSPAPGLASGDRPPSVSSVHSEGDCNRRTPLTNRVWEDRPSSAGSTPFPYNPLIMRLQAGVMASPPPPGLPAGSGPLAGPHHAWDEEPKPLLCSQYET +LSDSE* +>line27784 NM_015409 WILDTYPE +MHHGTGPQNVQHQLQRSRACPGSEGEEQPAHPNPPPSPAAPFAPSASPSAPQSPSYQIQQLMNRSPATGQNVNITLQSVGPVVGGNQQITLAPLPLPSPT +SPGFQFSAQPRRFEHGSPSYIQVTSPLSQQVQTQSPTQPSPGPGQALQNVRAGAPGPGLGLCSSSPTGGFVDASVLVRQISLSPSSGGHFVFQDGSGLTQ +IAQGAQVQLQHPGTPITVRERRPSQPHTQSGGTIHHLGPQSPAAAGGAGLQPLASPSHITTANLPPQISSIIQGQLVQQQQVLQGPPLPRPLGFERTPGV +LLPGAGGAAGFGMTSPPPPTSPSRTAVPPGLSSLPLTSVGNTGMKKVPKKLEEIPPASPEMAQMRKQCLDYHYQEMQALKEVFKEYLIELFFLQHFQGNM +MDFLAFKKKHYAPLQAYLRQNDLDIEEEEEEEEEEEEKSEVINDEQQALAGSLVAGAGSTVETDLFKRQQAMPSTGMAEQSKRPRLEVGHQGVVFQHPGA +DAGVPLQQLMPTAQGGMPPTPQAAQLAGQRQSQQQYDPSTGPPVQNAASLHTPLPQLPGRLPPAGVPTAALSSALQFAQQPQVVEAQTQLQIPVKTQQPN +VPIPAPPSSQLPIPPSQPAQLALHVPTPGKVQVQASQLSSLPQMVASTRLPVDPAPPCPRPLPTSSTSSLAPVSGSGPGPSPARSSPVNRPSSATNKALS +PVTSRTPGVVASAPTKPQSPAQNATSSQDSSQDTLTEQITLENQVHQRIAELRKAGLWSQRRLPKLQEAPRPKSHWDYLLEEMQWMATDFAQERRWKVAA +AKKLVRTVVRHHEEKQLREERGKKEEQSRLRRIAASTAREIECFWSNIEQVVEIKLRVELEEKRKKALNLQKVSRRGKELRPKGFDALQESSLDSGMSGR +KRKASISLTDDEVDDEEETIEEEEANEGVVDHQTELSNLAKEAELPLLDLMKLYEGAFLPSSQWPRPKPDGEDTSGEEDADDCPGDRESRKDLVLIDSLF +IMDQFKAAERMNIGKPNAKDIADVTAVAEAILPKGSARVTTSVKFNAPSLLYGALRDYQKIGLDWLAKLYRKNLNGILADEAGLGKTVQIIAFFAHLACN +EGNWGPHLVVVRSCNILKWELELKRWCPGLKILSYIGSHRELKAKRQEWAEPNSFHVCITSYTQFFRGLTAFTRVRWKCLVIDEMQRVKGMTERHWEAVF +TLQSQQRLLLIDSPLHNTFLELWTMVHFLVPGISRPYLSSPLRAPSEESQDYYHKVVIRLHRVTQPFILRRTKRDVEKQLTKKYEHVLKCRLSNRQKALY +EDVILQPGTQEALKSGHFVNVLSILVRLQRICNHPGLVEPRHPGSSYVAGPLEYPSASLILKALERDFWKEADLSMFDLIGLENKITRHEAELLSKKKIP +RKLMEEISTSAAPAARPAAAKLKASRLFQPVQYGQKPEGRTVAFPSTHPPRTAAPTTASAAPQGPLRGRPPIATFSANPEAKAAAAPFQTSQASASAPRH +QPASASSTAASPAHPAKLRAQTTAQASTPGQPPPQPQAPSHAAGQSALPQRLVLPSQAQARLPSGEVVKIAQLASITGPQSRVAQPETPVTLQFQGSKFT +LSHSQLRQLTAGQPLQLQGSVLQIVSAPGQPYLRAPGPVVMQTVSQAGAVHGALGSKPPAGGPSPAPLTPQVGVPGRVAVNALAVGEPGTASKPASPIGG +PTQEEKTRLLKERLDQIYLVNERRCSQAPVYGRDLLRICALPSHGRVQWRGSLDGRRGKEAGPAHSYTSSSESPSELMLTLCRCGESLQDVIDRVAFVIP +PVVAAPPSLRVPRPPPLYSHRMRILRQGLREHAAPYFQQLRQTTAPRLLQFPELRLVQFDSGKLEALAILLQKLKSEGRRVLILSQMILMLDILEMFLNF +HYLTYVRIDENASSEQRQELMRSFNRDRRIFCAILSTHSRTTGINLVEADTVVFYDNDLNPVMDAKAQEWCDRIGRCKDIHIYRLVSGNSIEEKLLKNGT +KDLIREVAAQGNDYSMAFLTQRTIQELFEVYSPMDDAGFPVKAEEFVVLSQEPSVTETIAPKIARPFIEALKSIEYLEEDAQKSAQEGVLGPHTDALSSD +SENMPCDEEPSQLEELADFMEQLTPIEKYALNYLELFHTSIEQEKERNSEDAVMTAVRAWEFWNLKTLQEREARLRLEQEEAELLTYTREDAYSMEYVYE +DVDGQTEVMPLWTPPTPPQDDSDIYLDSVMCLMYEATPIPEAKLPPVYVRKERKRHKTDPSAAGRKKKQRHGEAVVPPRSLFDRATPGLLKIRREGKEQK +KNILLKQQVPFAKPLPTFAKPTAEPGQDNPEWLISEDWALLQAVKQLLELPLNLTIVSPAHTPNWDLVSDVVNSCSRIYRSSKQCRNRYENVIIPREEGK +SKNNRPLRTSQIYAQDENATHTQLYTSHFDLMKMTAGKRSPPIKPLLGMNPFQKNPKHASVLAESGINYDKPLPPIQVASLRAERIAKEKKALADQQKAQ +QPAVAQPPPPQPQPPPPPQQPPPPLPQPQAAGSQPPAGPPAVQPQPQPQPQTQPQPVQAPAKAQPAITTGGSAAVLAGTIKTSVTGTSMPTGAVSGNVIV +NTIAGVPAATFQSINKRLASPVAPGALTTPGGSAPAQVVHTQPPPRAVGSPATATPDLVSMATTQGVRAVTSVTASAVVTTNLTPVQTPARSLVPQVSQA +TGVQLPGKTITPAHFQLLRQQQQQQQQQQQQQQQQQQQQQQQQQQQQQTTTTSQVQVPQIQGQAQSPAQIKAVGKLTPEHLIKMQKQKLQMPPQPPPPQA +QSAPPQPTAQVQVQTSQPPQQQSPQLTTVTAPRPGALLTGTTVANLQVARLTRVPTSQLQAQGQMQTQAPQPAQVALAKPPVVSVPAAVVSSPGVTTLPM +NVAGISVAIGQPQKAAGQTVVAQPVHMQQLLKLKQQAVQQQKAIQPQAAQGPAAVQQKITAQQITTPGAQQKVAYAAQPALKTQFLTTPISQAQKLAGAQ +QVQTQIQVAKLPQVVQQQTPVASIQQVASASQQASPQTVALTQATAAGQQVQMIPAVTATAQVVQQKLIQQQVVTTASAPLQTPGAPNPAQVPASSDSPS +QQPKLQMRVPAVRLKTPTKPPCQ* +>line27784 NM_015409 c.8182_8184del p.Q2748del protein-altering (position 2748 changed from Q to ) +MHHGTGPQNVQHQLQRSRACPGSEGEEQPAHPNPPPSPAAPFAPSASPSAPQSPSYQIQQLMNRSPATGQNVNITLQSVGPVVGGNQQITLAPLPLPSPT +SPGFQFSAQPRRFEHGSPSYIQVTSPLSQQVQTQSPTQPSPGPGQALQNVRAGAPGPGLGLCSSSPTGGFVDASVLVRQISLSPSSGGHFVFQDGSGLTQ +IAQGAQVQLQHPGTPITVRERRPSQPHTQSGGTIHHLGPQSPAAAGGAGLQPLASPSHITTANLPPQISSIIQGQLVQQQQVLQGPPLPRPLGFERTPGV +LLPGAGGAAGFGMTSPPPPTSPSRTAVPPGLSSLPLTSVGNTGMKKVPKKLEEIPPASPEMAQMRKQCLDYHYQEMQALKEVFKEYLIELFFLQHFQGNM +MDFLAFKKKHYAPLQAYLRQNDLDIEEEEEEEEEEEEKSEVINDEQQALAGSLVAGAGSTVETDLFKRQQAMPSTGMAEQSKRPRLEVGHQGVVFQHPGA +DAGVPLQQLMPTAQGGMPPTPQAAQLAGQRQSQQQYDPSTGPPVQNAASLHTPLPQLPGRLPPAGVPTAALSSALQFAQQPQVVEAQTQLQIPVKTQQPN +VPIPAPPSSQLPIPPSQPAQLALHVPTPGKVQVQASQLSSLPQMVASTRLPVDPAPPCPRPLPTSSTSSLAPVSGSGPGPSPARSSPVNRPSSATNKALS +PVTSRTPGVVASAPTKPQSPAQNATSSQDSSQDTLTEQITLENQVHQRIAELRKAGLWSQRRLPKLQEAPRPKSHWDYLLEEMQWMATDFAQERRWKVAA +AKKLVRTVVRHHEEKQLREERGKKEEQSRLRRIAASTAREIECFWSNIEQVVEIKLRVELEEKRKKALNLQKVSRRGKELRPKGFDALQESSLDSGMSGR +KRKASISLTDDEVDDEEETIEEEEANEGVVDHQTELSNLAKEAELPLLDLMKLYEGAFLPSSQWPRPKPDGEDTSGEEDADDCPGDRESRKDLVLIDSLF +IMDQFKAAERMNIGKPNAKDIADVTAVAEAILPKGSARVTTSVKFNAPSLLYGALRDYQKIGLDWLAKLYRKNLNGILADEAGLGKTVQIIAFFAHLACN +EGNWGPHLVVVRSCNILKWELELKRWCPGLKILSYIGSHRELKAKRQEWAEPNSFHVCITSYTQFFRGLTAFTRVRWKCLVIDEMQRVKGMTERHWEAVF +TLQSQQRLLLIDSPLHNTFLELWTMVHFLVPGISRPYLSSPLRAPSEESQDYYHKVVIRLHRVTQPFILRRTKRDVEKQLTKKYEHVLKCRLSNRQKALY +EDVILQPGTQEALKSGHFVNVLSILVRLQRICNHPGLVEPRHPGSSYVAGPLEYPSASLILKALERDFWKEADLSMFDLIGLENKITRHEAELLSKKKIP +RKLMEEISTSAAPAARPAAAKLKASRLFQPVQYGQKPEGRTVAFPSTHPPRTAAPTTASAAPQGPLRGRPPIATFSANPEAKAAAAPFQTSQASASAPRH +QPASASSTAASPAHPAKLRAQTTAQASTPGQPPPQPQAPSHAAGQSALPQRLVLPSQAQARLPSGEVVKIAQLASITGPQSRVAQPETPVTLQFQGSKFT +LSHSQLRQLTAGQPLQLQGSVLQIVSAPGQPYLRAPGPVVMQTVSQAGAVHGALGSKPPAGGPSPAPLTPQVGVPGRVAVNALAVGEPGTASKPASPIGG +PTQEEKTRLLKERLDQIYLVNERRCSQAPVYGRDLLRICALPSHGRVQWRGSLDGRRGKEAGPAHSYTSSSESPSELMLTLCRCGESLQDVIDRVAFVIP +PVVAAPPSLRVPRPPPLYSHRMRILRQGLREHAAPYFQQLRQTTAPRLLQFPELRLVQFDSGKLEALAILLQKLKSEGRRVLILSQMILMLDILEMFLNF +HYLTYVRIDENASSEQRQELMRSFNRDRRIFCAILSTHSRTTGINLVEADTVVFYDNDLNPVMDAKAQEWCDRIGRCKDIHIYRLVSGNSIEEKLLKNGT +KDLIREVAAQGNDYSMAFLTQRTIQELFEVYSPMDDAGFPVKAEEFVVLSQEPSVTETIAPKIARPFIEALKSIEYLEEDAQKSAQEGVLGPHTDALSSD +SENMPCDEEPSQLEELADFMEQLTPIEKYALNYLELFHTSIEQEKERNSEDAVMTAVRAWEFWNLKTLQEREARLRLEQEEAELLTYTREDAYSMEYVYE +DVDGQTEVMPLWTPPTPPQDDSDIYLDSVMCLMYEATPIPEAKLPPVYVRKERKRHKTDPSAAGRKKKQRHGEAVVPPRSLFDRATPGLLKIRREGKEQK +KNILLKQQVPFAKPLPTFAKPTAEPGQDNPEWLISEDWALLQAVKQLLELPLNLTIVSPAHTPNWDLVSDVVNSCSRIYRSSKQCRNRYENVIIPREEGK +SKNNRPLRTSQIYAQDENATHTQLYTSHFDLMKMTAGKRSPPIKPLLGMNPFQKNPKHASVLAESGINYDKPLPPIQVASLRAERIAKEKKALADQQKAQ +QPAVAQPPPPQPQPPPPPQQPPPPLPQPQAAGSQPPAGPPAVQPQPQPQPQTQPQPVQAPAKAQPAITTGGSAAVLAGTIKTSVTGTSMPTGAVSGNVIV +NTIAGVPAATFQSINKRLASPVAPGALTTPGGSAPAQVVHTQPPPRAVGSPATATPDLVSMATTQGVRAVTSVTASAVVTTNLTPVQTPARSLVPQVSQA +TGVQLPGKTITPAHFQLLRQQQQQQQQQQQQQQQQQQQQQQQQQQQQTTTTSQVQVPQIQGQAQSPAQIKAVGKLTPEHLIKMQKQKLQMPPQPPPPQAQ +SAPPQPTAQVQVQTSQPPQQQSPQLTTVTAPRPGALLTGTTVANLQVARLTRVPTSQLQAQGQMQTQAPQPAQVALAKPPVVSVPAAVVSSPGVTTLPMN +VAGISVAIGQPQKAAGQTVVAQPVHMQQLLKLKQQAVQQQKAIQPQAAQGPAAVQQKITAQQITTPGAQQKVAYAAQPALKTQFLTTPISQAQKLAGAQQ +VQTQIQVAKLPQVVQQQTPVASIQQVASASQQASPQTVALTQATAAGQQVQMIPAVTATAQVVQQKLIQQQVVTTASAPLQTPGAPNPAQVPASSDSPSQ +QPKLQMRVPAVRLKTPTKPPCQ* +>line27970 NM_030979 WILDTYPE +MNPSTPSYPTASLYVGDLHPDVTEAMLYEKFSPAGPILSIRICRDLITSGSSNYAYVNFQHTKDAEHALDTMNFDVIKGKPVRIMWSQRDPSLRKSGVGN +IFVKNLDKSINNKALYDTVSAFGNILSCNVVCDENGSKGYGFVHFETHEAAERAIKKMNGMLLNGRKVFVGQFKSRKEREAELGARAKEFPNVYIKNFGE +DMDDERLKDLFGKFGPALSVKVMTDESGKSKGFGFVSFERHEDAQKAVDEMNGKELNGKQIYVGRAQKKVERQTELKRTFEQMKQDRITRYQVVNLYVKN +LDDGIDDERLRKAFSPFGTITSAKVMMEGGRSKGFGFVCFSSPEEATKAVTEMNGRIVATKPLYVALAQRKEERQAYLTNEYMQRMASVRAVPNQRAPPS +GYFMTAVPQTQNHAAYYPPSQIARLRPSPRWTAQGARPHPFQNKPSAIRPGAPRVPFSTMRPASSQVPRVMSTQRVANTSTQTVGPRPAAAAAAAATPAV +RTVPRYKYAAGVRNPQQHRNAQPQVTMQQLAVHVQGQETLTASRLASAPPQKQKQMLGERLFPLIQAMHPTLAGKITGMLLEIDNSELLYMLESPESLRS +KVDEAVAVLQAHQAKEATQKAVNSATGVPTV* +>line27970 NM_030979 c.937delG p.A313Rfs*13 protein-altering (position 313-631 changed from AFSPFGTITSAKVMMEGGRSKGFGFVCFSSPEEATKAVTEMNGRIVATKPLYVALAQRKEERQAYLTNEYMQRMASVRAVPNQRAPPSGYFMTAVPQTQNHAAYYPPSQIARLRPSPRWTAQGARPHPFQNKPSAIRPGAPRVPFSTMRPASSQVPRVMSTQRVANTSTQTVGPRPAAAAAAAATPAVRTVPRYKYAAGVRNPQQHRNAQPQVTMQQLAVHVQGQETLTASRLASAPPQKQKQMLGERLFPLIQAMHPTLAGKITGMLLEIDNSELLYMLESPESLRSKVDEAVAVLQAHQAKEATQKAVNSATGVPTV to RFLHLVQSLVQRL) +MNPSTPSYPTASLYVGDLHPDVTEAMLYEKFSPAGPILSIRICRDLITSGSSNYAYVNFQHTKDAEHALDTMNFDVIKGKPVRIMWSQRDPSLRKSGVGN +IFVKNLDKSINNKALYDTVSAFGNILSCNVVCDENGSKGYGFVHFETHEAAERAIKKMNGMLLNGRKVFVGQFKSRKEREAELGARAKEFPNVYIKNFGE +DMDDERLKDLFGKFGPALSVKVMTDESGKSKGFGFVSFERHEDAQKAVDEMNGKELNGKQIYVGRAQKKVERQTELKRTFEQMKQDRITRYQVVNLYVKN +LDDGIDDERLRKRFLHLVQSLVQRL* +>line27973 NM_030979 WILDTYPE +MNPSTPSYPTASLYVGDLHPDVTEAMLYEKFSPAGPILSIRICRDLITSGSSNYAYVNFQHTKDAEHALDTMNFDVIKGKPVRIMWSQRDPSLRKSGVGN +IFVKNLDKSINNKALYDTVSAFGNILSCNVVCDENGSKGYGFVHFETHEAAERAIKKMNGMLLNGRKVFVGQFKSRKEREAELGARAKEFPNVYIKNFGE +DMDDERLKDLFGKFGPALSVKVMTDESGKSKGFGFVSFERHEDAQKAVDEMNGKELNGKQIYVGRAQKKVERQTELKRTFEQMKQDRITRYQVVNLYVKN +LDDGIDDERLRKAFSPFGTITSAKVMMEGGRSKGFGFVCFSSPEEATKAVTEMNGRIVATKPLYVALAQRKEERQAYLTNEYMQRMASVRAVPNQRAPPS +GYFMTAVPQTQNHAAYYPPSQIARLRPSPRWTAQGARPHPFQNKPSAIRPGAPRVPFSTMRPASSQVPRVMSTQRVANTSTQTVGPRPAAAAAAAATPAV +RTVPRYKYAAGVRNPQQHRNAQPQVTMQQLAVHVQGQETLTASRLASAPPQKQKQMLGERLFPLIQAMHPTLAGKITGMLLEIDNSELLYMLESPESLRS +KVDEAVAVLQAHQAKEATQKAVNSATGVPTV* +>line27973 NM_030979 c.975_979del p.M326Gfs*20 protein-altering (position 326-631 changed from MMEGGRSKGFGFVCFSSPEEATKAVTEMNGRIVATKPLYVALAQRKEERQAYLTNEYMQRMASVRAVPNQRAPPSGYFMTAVPQTQNHAAYYPPSQIARLRPSPRWTAQGARPHPFQNKPSAIRPGAPRVPFSTMRPASSQVPRVMSTQRVANTSTQTVGPRPAAAAAAAATPAVRTVPRYKYAAGVRNPQQHRNAQPQVTMQQLAVHVQGQETLTASRLASAPPQKQKQMLGERLFPLIQAMHPTLAGKITGMLLEIDNSELLYMLESPESLRSKVDEAVAVLQAHQAKEATQKAVNSATGVPTV to GRWSQQRVWFCMFLLPRRSH) +MNPSTPSYPTASLYVGDLHPDVTEAMLYEKFSPAGPILSIRICRDLITSGSSNYAYVNFQHTKDAEHALDTMNFDVIKGKPVRIMWSQRDPSLRKSGVGN +IFVKNLDKSINNKALYDTVSAFGNILSCNVVCDENGSKGYGFVHFETHEAAERAIKKMNGMLLNGRKVFVGQFKSRKEREAELGARAKEFPNVYIKNFGE +DMDDERLKDLFGKFGPALSVKVMTDESGKSKGFGFVSFERHEDAQKAVDEMNGKELNGKQIYVGRAQKKVERQTELKRTFEQMKQDRITRYQVVNLYVKN +LDDGIDDERLRKAFSPFGTITSAKVGRWSQQRVWFCMFLLPRRSH* +>line27974 NM_030979 WILDTYPE +MNPSTPSYPTASLYVGDLHPDVTEAMLYEKFSPAGPILSIRICRDLITSGSSNYAYVNFQHTKDAEHALDTMNFDVIKGKPVRIMWSQRDPSLRKSGVGN +IFVKNLDKSINNKALYDTVSAFGNILSCNVVCDENGSKGYGFVHFETHEAAERAIKKMNGMLLNGRKVFVGQFKSRKEREAELGARAKEFPNVYIKNFGE +DMDDERLKDLFGKFGPALSVKVMTDESGKSKGFGFVSFERHEDAQKAVDEMNGKELNGKQIYVGRAQKKVERQTELKRTFEQMKQDRITRYQVVNLYVKN +LDDGIDDERLRKAFSPFGTITSAKVMMEGGRSKGFGFVCFSSPEEATKAVTEMNGRIVATKPLYVALAQRKEERQAYLTNEYMQRMASVRAVPNQRAPPS +GYFMTAVPQTQNHAAYYPPSQIARLRPSPRWTAQGARPHPFQNKPSAIRPGAPRVPFSTMRPASSQVPRVMSTQRVANTSTQTVGPRPAAAAAAAATPAV +RTVPRYKYAAGVRNPQQHRNAQPQVTMQQLAVHVQGQETLTASRLASAPPQKQKQMLGERLFPLIQAMHPTLAGKITGMLLEIDNSELLYMLESPESLRS +KVDEAVAVLQAHQAKEATQKAVNSATGVPTV* +>line27974 NM_030979 c.997delA p.F335Lfs*18 protein-altering (position 335-631 changed from FGFVCFSSPEEATKAVTEMNGRIVATKPLYVALAQRKEERQAYLTNEYMQRMASVRAVPNQRAPPSGYFMTAVPQTQNHAAYYPPSQIARLRPSPRWTAQGARPHPFQNKPSAIRPGAPRVPFSTMRPASSQVPRVMSTQRVANTSTQTVGPRPAAAAAAAATPAVRTVPRYKYAAGVRNPQQHRNAQPQVTMQQLAVHVQGQETLTASRLASAPPQKQKQMLGERLFPLIQAMHPTLAGKITGMLLEIDNSELLYMLESPESLRSKVDEAVAVLQAHQAKEATQKAVNSATGVPTV to LVLYVSPPQKKPLKQLQK) +MNPSTPSYPTASLYVGDLHPDVTEAMLYEKFSPAGPILSIRICRDLITSGSSNYAYVNFQHTKDAEHALDTMNFDVIKGKPVRIMWSQRDPSLRKSGVGN +IFVKNLDKSINNKALYDTVSAFGNILSCNVVCDENGSKGYGFVHFETHEAAERAIKKMNGMLLNGRKVFVGQFKSRKEREAELGARAKEFPNVYIKNFGE +DMDDERLKDLFGKFGPALSVKVMTDESGKSKGFGFVSFERHEDAQKAVDEMNGKELNGKQIYVGRAQKKVERQTELKRTFEQMKQDRITRYQVVNLYVKN +LDDGIDDERLRKAFSPFGTITSAKVMMEGGRSKGLVLYVSPPQKKPLKQLQK* +>line28097 NM_002915 WILDTYPE +MSLWVDKYRPCSLGRLDYHKEQAAQLRNLVQCGDFPHLLVYGPSGAGKKTRIMCILRELYGVGVEKLRIEHQTITTPSKKKIEISTIASNYHLEVNPSDA +GNSDRVVIQEMLKTVAQSQQLETNSQRDFKVVLLTEVDKLTKDAQHALRRTMEKYMSTCRLILCCNSTSKVIPPIRSRCLAVRVPAPSIEDICHVLSTVC +KKEGLNLPSQLAHRLAEKSCRNLRKALLMCEACRVQQYPFTADQEIPETDWEVYLRETANAIVSQQTPQRLLEVRGRLYELLTHCIPPEIIMKGLLSELL +HNCDGQLKGEVAQMAAYYEHRLQLGSKAIYHLEAFVAKFMALYKKFMEDGLEGMMF* +>line28097 NM_002915 c.235dupA p.I82Nfs*1 protein-altering (position 82-356 changed from IEISTIASNYHLEVNPSDAGNSDRVVIQEMLKTVAQSQQLETNSQRDFKVVLLTEVDKLTKDAQHALRRTMEKYMSTCRLILCCNSTSKVIPPIRSRCLAVRVPAPSIEDICHVLSTVCKKEGLNLPSQLAHRLAEKSCRNLRKALLMCEACRVQQYPFTADQEIPETDWEVYLRETANAIVSQQTPQRLLEVRGRLYELLTHCIPPEIIMKGLLSELLHNCDGQLKGEVAQMAAYYEHRLQLGSKAIYHLEAFVAKFMALYKKFMEDGLEGMMF to N) +MSLWVDKYRPCSLGRLDYHKEQAAQLRNLVQCGDFPHLLVYGPSGAGKKTRIMCILRELYGVGVEKLRIEHQTITTPSKKKN* +>line28861 NM_001080396 WILDTYPE +MTRGAWMCRQYDDGLKIWLAAPRENEKPFIDSERAQKWRLSLASLLFFTVLLSDHLWFCAEAKLTRARDKEHQQQQRQQQQQQQQQRQRQQQQQQRRQQE +PSWPALLASMGESSPAAQAHRLLSASSSPTLPPSPGDGGGGGGKGNRGKDDRGKALFLGNSAKPVWRLETCYPQGASSGQCFTVENADAVCARNWSRGAA +GGDGQEVRSKHPTPLWNLSDFYLSFCNSYTLWELFSGLSSPNTLNCSLDVVLKEGGEMTTCRQCVEAYQDYDHHAQEKYEEFESVLHKYLQSEEYSVKSC +PEDCKIVYKAWLCSQYFEVTQFNCRKTIPCKQYCLEVQTRCPFILPDNDEVIYGGLSSFICTGLYETFLTNDEPECCDVRREEKSNNPSKGTVEKSGSCH +RTSLTVSSATRLCNSRLKLCVLVLILLHTVLTASAAQNTAGLSFGGINTLEENSTNEE* +>line28861 NM_001080396 c.218_229del p.Q73_Q76del protein-altering (position 73-76 changed from QQQQ to ) +MTRGAWMCRQYDDGLKIWLAAPRENEKPFIDSERAQKWRLSLASLLFFTVLLSDHLWFCAEAKLTRARDKEHRQQQQQQQQQRQRQQQQQQRRQQEPSWP +ALLASMGESSPAAQAHRLLSASSSPTLPPSPGDGGGGGGKGNRGKDDRGKALFLGNSAKPVWRLETCYPQGASSGQCFTVENADAVCARNWSRGAAGGDG +QEVRSKHPTPLWNLSDFYLSFCNSYTLWELFSGLSSPNTLNCSLDVVLKEGGEMTTCRQCVEAYQDYDHHAQEKYEEFESVLHKYLQSEEYSVKSCPEDC +KIVYKAWLCSQYFEVTQFNCRKTIPCKQYCLEVQTRCPFILPDNDEVIYGGLSSFICTGLYETFLTNDEPECCDVRREEKSNNPSKGTVEKSGSCHRTSL +TVSSATRLCNSRLKLCVLVLILLHTVLTASAAQNTAGLSFGGINTLEENSTNEE* +>line28964 NM_001005503 WILDTYPE +MHFLSQNDLNINLIPHLCLHRHSVIAGAFTIHRHMKIFNSPSNSSTFTGFILLGFPCPREGQILLFVLFTVVYLLTLMGNGSIICAVHWDQRLHAPMYIL +LANFSFLEICYVTSTVPSMLANFLSDTKIISFSGCFLQFYFFFSLGSTECFFLAVMAFDRYLAICRPLRYPTIMTRRLCTNLVVNCWVLGFIWFLIPIVN +ISQMSFCGSRIIDHFLCDPAPLLTLTCKKGPVIELVFSVLSPLPVFMLFLFIVGSYALVVRAVLRVPSAAGRRKAFSTCGSHLAVVSLFYGSVLVMYGSP +PSKNEAGKQKTVTLFYSVVTPLLNPVIYSLRNKDMRKALKKFWGT* +>line28964 NM_001005503 c.682dupA p.G230Rfs*73 protein-altering (position 230-345 changed from GPVIELVFSVLSPLPVFMLFLFIVGSYALVVRAVLRVPSAAGRRKAFSTCGSHLAVVSLFYGSVLVMYGSPPSKNEAGKQKTVTLFYSVVTPLLNPVIYSLRNKDMRKALKKFWGT to RPCDRACLFCLKSSACLYALSLHCGVLCSGRESCVEGPFSSWEKKGFLHLWVSPGCGFTVLRLSTGHVWEPTI) +MHFLSQNDLNINLIPHLCLHRHSVIAGAFTIHRHMKIFNSPSNSSTFTGFILLGFPCPREGQILLFVLFTVVYLLTLMGNGSIICAVHWDQRLHAPMYIL +LANFSFLEICYVTSTVPSMLANFLSDTKIISFSGCFLQFYFFFSLGSTECFFLAVMAFDRYLAICRPLRYPTIMTRRLCTNLVVNCWVLGFIWFLIPIVN +ISQMSFCGSRIIDHFLCDPAPLLTLTCKKRPCDRACLFCLKSSACLYALSLHCGVLCSGRESCVEGPFSSWEKKGFLHLWVSPGCGFTVLRLSTGHVWEP +TI* +>line29042 NM_005015 WILDTYPE +MVTWLYRFLPTSNMAAKLRSLLPPDLRLQFWLHARLQKCFLSRGCGSYCAGAKASPLPGKMAMGLMCGRRELLRLLQSGRRVHSVAGPSQWLGKPLTTRL +LFPAAPCCCRPHYLFLAASGPRSLSTSAISFAEVQVQAPPVVAATPSPTAVPEVASGETADVVQTAAEQSFAELGLGSYTPVGLIQNLLEFMHVDLGLPW +WGAIAACTVFARCLIFPLIVTGQREAARIHNHLPEIQKFSSRIREAKLAGDHIEYYKASSEMALYQKKHGIKLYKPLILPVTQAPIFISFFIALREMANL +PVPSLQTGGLWWFQDLTVSDPIYILPLAVTATMWAVLELGAETGVQSSDLQWMRNVIRMMPLITLPITMHFPTAVFMYWLSSNLFSLVQVSCLRIPAVRT +VLKIPQRVVHDLDKLPPREGFLESFKKGWKNAEMTRQLREREQRMRNQLELAARGPLRQTFTHNPLLQPGKDNPPNIPSSSSKPKSKYPWHDTLG* +>line29042 NM_005015 c.1434_1435insAGC p.S482_K483insS protein-altering (position 482-483 has insertion S) +MVTWLYRFLPTSNMAAKLRSLLPPDLRLQFWLHARLQKCFLSRGCGSYCAGAKASPLPGKMAMGLMCGRRELLRLLQSGRRVHSVAGPSQWLGKPLTTRL +LFPAAPCCCRPHYLFLAASGPRSLSTSAISFAEVQVQAPPVVAATPSPTAVPEVASGETADVVQTAAEQSFAELGLGSYTPVGLIQNLLEFMHVDLGLPW +WGAIAACTVFARCLIFPLIVTGQREAARIHNHLPEIQKFSSRIREAKLAGDHIEYYKASSEMALYQKKHGIKLYKPLILPVTQAPIFISFFIALREMANL +PVPSLQTGGLWWFQDLTVSDPIYILPLAVTATMWAVLELGAETGVQSSDLQWMRNVIRMMPLITLPITMHFPTAVFMYWLSSNLFSLVQVSCLRIPAVRT +VLKIPQRVVHDLDKLPPREGFLESFKKGWKNAEMTRQLREREQRMRNQLELAARGPLRQTFTHNPLLQPGKDNPPNIPSSSSSKPKSKYPWHDTLG* +>line29053 NM_001164815 WILDTYPE +MWRRKHPRTSGGTRGVLSGNRGVEYGSGRGHLGTFEGRWRKLPKMPEAVGTDPSTSRKMAELEEVTLDGKPLQALRVTDLKAALEQRGLAKSGQKSALVK +RLKGALMLENLQKHSTPHAAFQPNSQIGEEMSQNSFIKQYLEKQQELLRQRLEREAREAAELEGKSSSISEEKGDSDDEKPRKGERRSSRVRQARAAKLS +EGSQPAEEEEDQETPSRNLRVRADRNLKTEEEEEEEEEEEEDDEEEEGDDEGQKSREAPILKEFKEEGEEIPRVKPEEMMDERPKTRSQEQEVLERGGRF +TRSQEEARKSHLARQQQEKEMKTTSPLEEEEREIKSSQGLKEKSKSPSPPRLTEDRKKASLVALPEQTASEEETPPPLLTKEASSPPPHPQLHSEEEIEP +MEGPAPAVLIQLSPPNTDADTRELLVSQHTVQLVGGLSPLSSPSDTKAESPAEKVPEESVLPLVQKSTLADYSAQKDLEPESDRSAQPLPLKIEELALAK +GITEECLKQPSLEQKEGRRASHTLLPSHRLKQSADSSSSRSSSSSSSSSRSRSRSPDSSGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSR +SRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVPQLQVCEPKERTSTSSSSVQARRLSQPESAEKHVTQRLQPERGSPKKCEAEEAEP +PAATQPQTSETQTSHLPESERIHHTVEEKEEVTMDTSENRPENDVPEPPMPIADQVSNDDRPEGSVEDEEKKESSLPKSFKRKISVVSATKGVPAGNSDT +EGGQPGRKRRWGASTATTQKKPSISITTESLKSLIPDIKPLAGQEAVVDLHADDSRISEDETERNGDDGTHDKGLKICRTVTQVVPAEGQENGQREEEEE +EKEPEAEPPVPPQVSVEVALPPPAEHEVKKVTLGDTLTRRSISQQKSGVSITIDDPVRTAQVPSPPRGKISNIVHISNLVRPFTLGQLKELLGRTGTLVE +EAFWIDKIKSHCFVTYSTVEEAVATRTALHGVKWPQSNPKFLCADYAEQDELDYHRGLLVDRPSETKTEEQGIPRPLHPPPPPPVQPPQHPRAEQREQER +AVREQWAEREREMERRERTRSEREWDRDKVREGPRSRSRSRDRRRKERAKSKEKKSEKKEKAQEEPPAKLLDDLFRKTKAAPCIYWLPLTDSQIVQKEAE +RAERAKEREKRRKEQEEEEQKEREKEAERERNRQLEREKRREHSRERDRERERERERDRGDRDRDRERDRERGRERDRRDTKRHSRSRSRSTPVRDRGGR +R* +>line29053 NM_001164815 c.1810_1811insATTCAC p.S603_R604insHS protein-altering (position 603-604 has insertion HS) +MWRRKHPRTSGGTRGVLSGNRGVEYGSGRGHLGTFEGRWRKLPKMPEAVGTDPSTSRKMAELEEVTLDGKPLQALRVTDLKAALEQRGLAKSGQKSALVK +RLKGALMLENLQKHSTPHAAFQPNSQIGEEMSQNSFIKQYLEKQQELLRQRLEREAREAAELEGKSSSISEEKGDSDDEKPRKGERRSSRVRQARAAKLS +EGSQPAEEEEDQETPSRNLRVRADRNLKTEEEEEEEEEEEEDDEEEEGDDEGQKSREAPILKEFKEEGEEIPRVKPEEMMDERPKTRSQEQEVLERGGRF +TRSQEEARKSHLARQQQEKEMKTTSPLEEEEREIKSSQGLKEKSKSPSPPRLTEDRKKASLVALPEQTASEEETPPPLLTKEASSPPPHPQLHSEEEIEP +MEGPAPAVLIQLSPPNTDADTRELLVSQHTVQLVGGLSPLSSPSDTKAESPAEKVPEESVLPLVQKSTLADYSAQKDLEPESDRSAQPLPLKIEELALAK +GITEECLKQPSLEQKEGRRASHTLLPSHRLKQSADSSSSRSSSSSSSSSRSRSRSPDSSGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSR +SRSHSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVPQLQVCEPKERTSTSSSSVQARRLSQPESAEKHVTQRLQPERGSPKKCEAEEA +EPPAATQPQTSETQTSHLPESERIHHTVEEKEEVTMDTSENRPENDVPEPPMPIADQVSNDDRPEGSVEDEEKKESSLPKSFKRKISVVSATKGVPAGNS +DTEGGQPGRKRRWGASTATTQKKPSISITTESLKSLIPDIKPLAGQEAVVDLHADDSRISEDETERNGDDGTHDKGLKICRTVTQVVPAEGQENGQREEE +EEEKEPEAEPPVPPQVSVEVALPPPAEHEVKKVTLGDTLTRRSISQQKSGVSITIDDPVRTAQVPSPPRGKISNIVHISNLVRPFTLGQLKELLGRTGTL +VEEAFWIDKIKSHCFVTYSTVEEAVATRTALHGVKWPQSNPKFLCADYAEQDELDYHRGLLVDRPSETKTEEQGIPRPLHPPPPPPVQPPQHPRAEQREQ +ERAVREQWAEREREMERRERTRSEREWDRDKVREGPRSRSRSRDRRRKERAKSKEKKSEKKEKAQEEPPAKLLDDLFRKTKAAPCIYWLPLTDSQIVQKE +AERAERAKEREKRRKEQEEEEQKEREKEAERERNRQLEREKRREHSRERDRERERERERDRGDRDRDRERDRERGRERDRRDTKRHSRSRSRSTPVRDRG +GRR* +>line29054 NM_001164815 WILDTYPE +MWRRKHPRTSGGTRGVLSGNRGVEYGSGRGHLGTFEGRWRKLPKMPEAVGTDPSTSRKMAELEEVTLDGKPLQALRVTDLKAALEQRGLAKSGQKSALVK +RLKGALMLENLQKHSTPHAAFQPNSQIGEEMSQNSFIKQYLEKQQELLRQRLEREAREAAELEGKSSSISEEKGDSDDEKPRKGERRSSRVRQARAAKLS +EGSQPAEEEEDQETPSRNLRVRADRNLKTEEEEEEEEEEEEDDEEEEGDDEGQKSREAPILKEFKEEGEEIPRVKPEEMMDERPKTRSQEQEVLERGGRF +TRSQEEARKSHLARQQQEKEMKTTSPLEEEEREIKSSQGLKEKSKSPSPPRLTEDRKKASLVALPEQTASEEETPPPLLTKEASSPPPHPQLHSEEEIEP +MEGPAPAVLIQLSPPNTDADTRELLVSQHTVQLVGGLSPLSSPSDTKAESPAEKVPEESVLPLVQKSTLADYSAQKDLEPESDRSAQPLPLKIEELALAK +GITEECLKQPSLEQKEGRRASHTLLPSHRLKQSADSSSSRSSSSSSSSSRSRSRSPDSSGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSR +SRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVPQLQVCEPKERTSTSSSSVQARRLSQPESAEKHVTQRLQPERGSPKKCEAEEAEP +PAATQPQTSETQTSHLPESERIHHTVEEKEEVTMDTSENRPENDVPEPPMPIADQVSNDDRPEGSVEDEEKKESSLPKSFKRKISVVSATKGVPAGNSDT +EGGQPGRKRRWGASTATTQKKPSISITTESLKSLIPDIKPLAGQEAVVDLHADDSRISEDETERNGDDGTHDKGLKICRTVTQVVPAEGQENGQREEEEE +EKEPEAEPPVPPQVSVEVALPPPAEHEVKKVTLGDTLTRRSISQQKSGVSITIDDPVRTAQVPSPPRGKISNIVHISNLVRPFTLGQLKELLGRTGTLVE +EAFWIDKIKSHCFVTYSTVEEAVATRTALHGVKWPQSNPKFLCADYAEQDELDYHRGLLVDRPSETKTEEQGIPRPLHPPPPPPVQPPQHPRAEQREQER +AVREQWAEREREMERRERTRSEREWDRDKVREGPRSRSRSRDRRRKERAKSKEKKSEKKEKAQEEPPAKLLDDLFRKTKAAPCIYWLPLTDSQIVQKEAE +RAERAKEREKRRKEQEEEEQKEREKEAERERNRQLEREKRREHSRERDRERERERERDRGDRDRDRERDRERGRERDRRDTKRHSRSRSRSTPVRDRGGR +R* +>line29054 NM_001164815 c.1218_1219TC p.A407P protein-altering (position 407 changed from A to P) +MWRRKHPRTSGGTRGVLSGNRGVEYGSGRGHLGTFEGRWRKLPKMPEAVGTDPSTSRKMAELEEVTLDGKPLQALRVTDLKAALEQRGLAKSGQKSALVK +RLKGALMLENLQKHSTPHAAFQPNSQIGEEMSQNSFIKQYLEKQQELLRQRLEREAREAAELEGKSSSISEEKGDSDDEKPRKGERRSSRVRQARAAKLS +EGSQPAEEEEDQETPSRNLRVRADRNLKTEEEEEEEEEEEEDDEEEEGDDEGQKSREAPILKEFKEEGEEIPRVKPEEMMDERPKTRSQEQEVLERGGRF +TRSQEEARKSHLARQQQEKEMKTTSPLEEEEREIKSSQGLKEKSKSPSPPRLTEDRKKASLVALPEQTASEEETPPPLLTKEASSPPPHPQLHSEEEIEP +MEGPAPPVLIQLSPPNTDADTRELLVSQHTVQLVGGLSPLSSPSDTKAESPAEKVPEESVLPLVQKSTLADYSAQKDLEPESDRSAQPLPLKIEELALAK +GITEECLKQPSLEQKEGRRASHTLLPSHRLKQSADSSSSRSSSSSSSSSRSRSRSPDSSGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSR +SRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVPQLQVCEPKERTSTSSSSVQARRLSQPESAEKHVTQRLQPERGSPKKCEAEEAEP +PAATQPQTSETQTSHLPESERIHHTVEEKEEVTMDTSENRPENDVPEPPMPIADQVSNDDRPEGSVEDEEKKESSLPKSFKRKISVVSATKGVPAGNSDT +EGGQPGRKRRWGASTATTQKKPSISITTESLKSLIPDIKPLAGQEAVVDLHADDSRISEDETERNGDDGTHDKGLKICRTVTQVVPAEGQENGQREEEEE +EKEPEAEPPVPPQVSVEVALPPPAEHEVKKVTLGDTLTRRSISQQKSGVSITIDDPVRTAQVPSPPRGKISNIVHISNLVRPFTLGQLKELLGRTGTLVE +EAFWIDKIKSHCFVTYSTVEEAVATRTALHGVKWPQSNPKFLCADYAEQDELDYHRGLLVDRPSETKTEEQGIPRPLHPPPPPPVQPPQHPRAEQREQER +AVREQWAEREREMERRERTRSEREWDRDKVREGPRSRSRSRDRRRKERAKSKEKKSEKKEKAQEEPPAKLLDDLFRKTKAAPCIYWLPLTDSQIVQKEAE +RAERAKEREKRRKEQEEEEQKEREKEAERERNRQLEREKRREHSRERDRERERERERDRGDRDRDRERDRERGRERDRRDTKRHSRSRSRSTPVRDRGGR +R* +>line29060 NM_020834 WILDTYPE +MVRGWEPPPGLDCAISEGHKSEGTMPPNKEASGLSSSPAGLICLPPISEELQLVWTQAAQTSELDSNEHLLKTFSYFPYPSLADIALLCLRYGLQMEKVK +TWFMAQRLRCGISWSSEEIEETRARVVYRRDQLHFKSLLSFTHHAGRPPEEVPPPPVPAPEQVGIGIGPPTLSKPTQTKGLKVEPEEPSQMPPLPQSHQK +LKESLMTPGSGAFPYQSDFWQHLQSSGLSKEQAGRGPNQSHGIGTASWNHSTTVPQPQARDKPPPIALIASSCKEESASSVTPSSSSTSSSFQVLANGAT +AASKPLQPLGCVPQSVSPSEQALPPHLEPAWPQGLRHNSVPGRVGPTEYLSPDMQRQRKTKRKTKEQLAILKSFFLQCQWARREDYQKLEQITGLPRPEI +IQWFGDTRYALKHGQLKWFRDNAVPGAPSFQDPAIPTPPPSTRSLNERAETPPLPIPPPPPDIQPLERYWAAHQQLRETDIPQLSQASRLSTQQVLDWFD +SRLPQPAEVVVCLDEEEEEEEEELPEDDEEEEEEEEEDDDDDDDDVIIQD* +>line29060 NM_020834 c.1608_1610del p.E537del protein-altering (position 537 changed from E to ) +MVRGWEPPPGLDCAISEGHKSEGTMPPNKEASGLSSSPAGLICLPPISEELQLVWTQAAQTSELDSNEHLLKTFSYFPYPSLADIALLCLRYGLQMEKVK +TWFMAQRLRCGISWSSEEIEETRARVVYRRDQLHFKSLLSFTHHAGRPPEEVPPPPVPAPEQVGIGIGPPTLSKPTQTKGLKVEPEEPSQMPPLPQSHQK +LKESLMTPGSGAFPYQSDFWQHLQSSGLSKEQAGRGPNQSHGIGTASWNHSTTVPQPQARDKPPPIALIASSCKEESASSVTPSSSSTSSSFQVLANGAT +AASKPLQPLGCVPQSVSPSEQALPPHLEPAWPQGLRHNSVPGRVGPTEYLSPDMQRQRKTKRKTKEQLAILKSFFLQCQWARREDYQKLEQITGLPRPEI +IQWFGDTRYALKHGQLKWFRDNAVPGAPSFQDPAIPTPPPSTRSLNERAETPPLPIPPPPPDIQPLERYWAAHQQLRETDIPQLSQASRLSTQQVLDWFD +SRLPQPAEVVVCLDEEEEEEEEELPEDDEEEEEEEEDDDDDDDDVIIQD* +>line29077 NM_001048205 WILDTYPE +MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLRVNVVKTCEEILNYVLVRVQPPQPGLPRPRFSLYLSAQLQIGVIRVYSQQCQYLVEDIQHILERLH +RAQLQIRIDMETELPSLLLPNHLAMMETLEDAPDPFFGMMSVDPRLPSPFDIPQIRHLLEAAIPERVEEIPPEVPTEPREPERIPVTVLPPEAITILEAE +PIRMLEIEGERELPEVSRRELDLLIAEEEAILLEIPRLPPPAPAEVEGIGEALGPEELRLTGWEPGALLMEVTPPEELRLPAPPSPERRPPVPPPPRRRR +RRRLLFWDKETQISPEKFQEQLQTRAHCWECPMVQPPERTIRGPAELFRTPTLSGWLPPELLGLWTHCAQPPPKALRRELPEEAAAEEERRKIEVPSEIE +VPREALEPSVPLMVSLEISLEAAEEEKSRISLIPPEERWAWPEVEAPEAPALPVVPELPEVPMEMPLVLPPELELLSLEAVHRAVALELQANREPDFSSL +VSPLSPRRMAARVFYLLLVLSAQQILHVKQEKPYGRLLIQPGPRFH* +>line29077 NM_001048205 c.681_682insGAA p.E229_A230insE protein-altering (position 229-230 has insertion E) +MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLRVNVVKTCEEILNYVLVRVQPPQPGLPRPRFSLYLSAQLQIGVIRVYSQQCQYLVEDIQHILERLH +RAQLQIRIDMETELPSLLLPNHLAMMETLEDAPDPFFGMMSVDPRLPSPFDIPQIRHLLEAAIPERVEEIPPEVPTEPREPERIPVTVLPPEAITILEAE +PIRMLEIEGERELPEVSRRELDLLIAEEEEAILLEIPRLPPPAPAEVEGIGEALGPEELRLTGWEPGALLMEVTPPEELRLPAPPSPERRPPVPPPPRRR +RRRRLLFWDKETQISPEKFQEQLQTRAHCWECPMVQPPERTIRGPAELFRTPTLSGWLPPELLGLWTHCAQPPPKALRRELPEEAAAEEERRKIEVPSEI +EVPREALEPSVPLMVSLEISLEAAEEEKSRISLIPPEERWAWPEVEAPEAPALPVVPELPEVPMEMPLVLPPELELLSLEAVHRAVALELQANREPDFSS +LVSPLSPRRMAARVFYLLLVLSAQQILHVKQEKPYGRLLIQPGPRFH* +>line29084 NM_001286367 WILDTYPE +MGQGPRSPHKVGRRFPAGGKRGRGAKGSGRPLPGRKRQPWPPPDGRSEPAPDSHPHLSPEALGYFRRALSALKEAPETGEERDLMVHNIMKEVETQALAL +STNRTGSEMLQELLGFSPLKPLCRVWAALRSNLRTVACHRCGVHVLQSALLQLPRLLGSAAEEEEEEEEDGKDGPTETLEELVLGLAAEVCDDFLVYCGD +THGSFVVRTLLQVLGGTILESERARPRGSQSSEAQKTPAQECKPADFEVPETFLNRLQDLSSSFLKDIAVFITDKISSFCLQVALQVLHRKLPQFCAHLC +NAVIGYLSTRGSSVDGSPLLLFLRDQTSSRLLEQVLLVLEPPRLQSLFEEHLQGQLQTLAAHPIANFPLQRLLDAVTTPELLSPVFEELSPVLEAVLAQG +HPGVVIALVGACRRVGAYQAKVLQLLLEAFHCAEPSSRQVACVPLFATLMAYEVYYGLTEEEGAVPAEHQVAMAAARALGDVTVLGSLLLQHLLHFSTPG +LVLRSLGALTGPQLLSLAQRPGRKLLLSLGSRTRS* +>line29084 NM_001286367 c.483_484insGAGGAG p.E169_D170insEE protein-altering (position 169-170 has insertion EE) +MGQGPRSPHKVGRRFPAGGKRGRGAKGSGRPLPGRKRQPWPPPDGRSEPAPDSHPHLSPEALGYFRRALSALKEAPETGEERDLMVHNIMKEVETQALAL +STNRTGSEMLQELLGFSPLKPLCRVWAALRSNLRTVACHRCGVHVLQSALLQLPRLLGSAAEEEEEEEEEEDGKDGPTETLEELVLGLAAEVCDDFLVYC +GDTHGSFVVRTLLQVLGGTILESERARPRGSQSSEAQKTPAQECKPADFEVPETFLNRLQDLSSSFLKDIAVFITDKISSFCLQVALQVLHRKLPQFCAH +LCNAVIGYLSTRGSSVDGSPLLLFLRDQTSSRLLEQVLLVLEPPRLQSLFEEHLQGQLQTLAAHPIANFPLQRLLDAVTTPELLSPVFEELSPVLEAVLA +QGHPGVVIALVGACRRVGAYQAKVLQLLLEAFHCAEPSSRQVACVPLFATLMAYEVYYGLTEEEGAVPAEHQVAMAAARALGDVTVLGSLLLQHLLHFST +PGLVLRSLGALTGPQLLSLAQRPGRKLLLSLGSRTRS* +>line29086 NM_001198568 WILDTYPE +MARLFSPRPPPSEDLFYETYYSLSQQYPLLLLLLGIVLCALAALLAVAWASGRELTSDPSFLTTVLCALGGFSLLLGLASREQRLQRWTRPLSGLVWVAL +LALGHAFLFTGGVVSAWDQVSYFLFVIFTAYAMLPLGMRDAAVAGLASSLSHLLVLGLYLGPQPDSRPALLPQLAANAVLFLCGNVAGVYHKALMERALR +ATFREALSSLHSRRRLDTEKKHQEHLLLSILPAYLAREMKAEIMARLQAGQGSRPESTNNFHSLYVKRHQGVSVLYADIVGFTRLASECSPKELVLMLNE +LFGKFDQIAKEHECMRIKILGDCYYCVSGLPLSLPDHAINCVRMGLDMCRAIRKLRAATGVDINMRVGVHSGSVLCGVIGLQKWQYDVWSHDVTLANHME +AGGVPGRVHITGATLALLAGAYAVEDAGMEHRDPYLRELGEPTYLVIDPRAEEEDEKGTAGGLLSSLEGLKMRPSLLMTRYLESWGAAKPFAHLSHGDSP +VSTSTPLPEKTLASFSTQWSLDRSRTPRGLDDELDTGDAKFFQVIEQLNSQKQWKQSKDFNPLTLYFREKEMEKEYRLSAIPAFKYYEACTFLVFLSNFI +IQMLVTNRPPALAITYSITFLLFLLILFVCFSEDLMRCVLKGPKMLHWLPALSGLVATRPGLRIALGTATILLVFAMAITSLFFFPTSSDCPFQAPNVSS +MISNLSWELPGSLPLISVPYSMHCCTLGFLSCSLFLHMSFELKLLLLLLWLAASCSLFLHSHAWLSECLIVRLYLGPLDSRPGVLKEPKLMGAISFFIFF +FTLLVLARQNEYYCRLDFLWKKKLRQEREETETMENLTRLLLENVLPAHVAPQFIGQNRRNEDLYHQSYECVCVLFASVPDFKEFYSESNINHEGLECLR +LLNEIIADFDELLSKPKFSGVEKIKTIGSTYMAATGLNATSGQDAQQDAERSCSHLGTMVEFAVALGSKLDVINKHSFNNFRLRVGLNHGPVVAGVIGAQ +KPQYDIWGNTVNVASRMESTGVLGKIQVTEETAWALQSLGYTCYSRGVIKVKGKGQLCTYFLNTDLTRTGPPSATLG* +>line29086 NM_001198568 c.100_102del p.L34del protein-altering (position 34 changed from L to ) +MARLFSPRPPPSEDLFYETYYSLSQQYPLLLLLGIVLCALAALLAVAWASGRELTSDPSFLTTVLCALGGFSLLLGLASREQRLQRWTRPLSGLVWVALL +ALGHAFLFTGGVVSAWDQVSYFLFVIFTAYAMLPLGMRDAAVAGLASSLSHLLVLGLYLGPQPDSRPALLPQLAANAVLFLCGNVAGVYHKALMERALRA +TFREALSSLHSRRRLDTEKKHQEHLLLSILPAYLAREMKAEIMARLQAGQGSRPESTNNFHSLYVKRHQGVSVLYADIVGFTRLASECSPKELVLMLNEL +FGKFDQIAKEHECMRIKILGDCYYCVSGLPLSLPDHAINCVRMGLDMCRAIRKLRAATGVDINMRVGVHSGSVLCGVIGLQKWQYDVWSHDVTLANHMEA +GGVPGRVHITGATLALLAGAYAVEDAGMEHRDPYLRELGEPTYLVIDPRAEEEDEKGTAGGLLSSLEGLKMRPSLLMTRYLESWGAAKPFAHLSHGDSPV +STSTPLPEKTLASFSTQWSLDRSRTPRGLDDELDTGDAKFFQVIEQLNSQKQWKQSKDFNPLTLYFREKEMEKEYRLSAIPAFKYYEACTFLVFLSNFII +QMLVTNRPPALAITYSITFLLFLLILFVCFSEDLMRCVLKGPKMLHWLPALSGLVATRPGLRIALGTATILLVFAMAITSLFFFPTSSDCPFQAPNVSSM +ISNLSWELPGSLPLISVPYSMHCCTLGFLSCSLFLHMSFELKLLLLLLWLAASCSLFLHSHAWLSECLIVRLYLGPLDSRPGVLKEPKLMGAISFFIFFF +TLLVLARQNEYYCRLDFLWKKKLRQEREETETMENLTRLLLENVLPAHVAPQFIGQNRRNEDLYHQSYECVCVLFASVPDFKEFYSESNINHEGLECLRL +LNEIIADFDELLSKPKFSGVEKIKTIGSTYMAATGLNATSGQDAQQDAERSCSHLGTMVEFAVALGSKLDVINKHSFNNFRLRVGLNHGPVVAGVIGAQK +PQYDIWGNTVNVASRMESTGVLGKIQVTEETAWALQSLGYTCYSRGVIKVKGKGQLCTYFLNTDLTRTGPPSATLG* +>line29434 NM_001160148 WILDTYPE +MNYPGRGSPRSPEHNGRGGGGGAWELGSDARPAFGGGVCCFEHLPGGDPDDGDVPLALLRGEPGLHLAPGTDDHNHHLALDPCLSDENYDFSSAESGSSL +RYYSEGESGGGGSSLSLHPPQQPPLVPTNSGGGGATGGSPGERKRTRLGGPAARHRYEVVTELGPEEVRWFYKEDKKTWKPFIGYDSLRIELAFRTLLQT +TGARPQGGDRDGDHVCSPTGPASSSGEDDDEDRACGFCQSTTGHEPEMVELVNIEPVCVRGGLYEVDVTQGECYPVYWNQADKIPVMRGQWFIDGTWQPL +EEEESNLIEQEHLNCFRGQQMQENFDIEVSKSIDGKDAVHSFKLSRNHVDWHSVDEVYLYSDATTSKIARTVTQKLGFSKASSSGTRLHRGYVEEATLED +KPSQTTHIVFVVHGIGQKMDQGRIIKNTAMMREAARKIEERHFSNHATHVEFLPVEWRSKLTLDGDTVDSITPDKVRGLRDMLNSSAMDIMYYTSPLYRD +ELVKGLQQELNRLYSLFCSRNPDFEEKGGKVSIVSHSLGCVITYDIMTGWNPVRLYEQLLQKEEELPDERWMSYEERHLLDELYITKRRLKEIEERLHGL +KASSMTQTPALKFKVENFFCMGSPLAVFLALRGIRPGNTGSQDHILPREICNRLLNIFHPTDPVAYRLEPLILKHYSNISPVQIHWYNTSNPLPYEHMKP +SFLNPAKEPTSVSENEGISTIPSPVTSPVLSRRHYGESITNIGKASILGAASIGKGLGGMLFSRFGRSSTTQSSETSKDSMEDEKKPVASPSATTVGTQT +LPHSSSGFLDSAYFRLQESFFNLPQLLFPENVMQNKDNALVELDHRIDFELREGLVESRYWSAVTSHTAYWSSLDVALFLLTFMYKHEHDDDAKPNLDPI +* +>line29434 NM_001160148 c.336_337insGGCGGC p.G112_S113insGG protein-altering (position 112-113 has insertion GG) +MNYPGRGSPRSPEHNGRGGGGGAWELGSDARPAFGGGVCCFEHLPGGDPDDGDVPLALLRGEPGLHLAPGTDDHNHHLALDPCLSDENYDFSSAESGSSL +RYYSEGESGGGGGGSSLSLHPPQQPPLVPTNSGGGGATGGSPGERKRTRLGGPAARHRYEVVTELGPEEVRWFYKEDKKTWKPFIGYDSLRIELAFRTLL +QTTGARPQGGDRDGDHVCSPTGPASSSGEDDDEDRACGFCQSTTGHEPEMVELVNIEPVCVRGGLYEVDVTQGECYPVYWNQADKIPVMRGQWFIDGTWQ +PLEEEESNLIEQEHLNCFRGQQMQENFDIEVSKSIDGKDAVHSFKLSRNHVDWHSVDEVYLYSDATTSKIARTVTQKLGFSKASSSGTRLHRGYVEEATL +EDKPSQTTHIVFVVHGIGQKMDQGRIIKNTAMMREAARKIEERHFSNHATHVEFLPVEWRSKLTLDGDTVDSITPDKVRGLRDMLNSSAMDIMYYTSPLY +RDELVKGLQQELNRLYSLFCSRNPDFEEKGGKVSIVSHSLGCVITYDIMTGWNPVRLYEQLLQKEEELPDERWMSYEERHLLDELYITKRRLKEIEERLH +GLKASSMTQTPALKFKVENFFCMGSPLAVFLALRGIRPGNTGSQDHILPREICNRLLNIFHPTDPVAYRLEPLILKHYSNISPVQIHWYNTSNPLPYEHM +KPSFLNPAKEPTSVSENEGISTIPSPVTSPVLSRRHYGESITNIGKASILGAASIGKGLGGMLFSRFGRSSTTQSSETSKDSMEDEKKPVASPSATTVGT +QTLPHSSSGFLDSAYFRLQESFFNLPQLLFPENVMQNKDNALVELDHRIDFELREGLVESRYWSAVTSHTAYWSSLDVALFLLTFMYKHEHDDDAKPNLD +PI* +>line29745 NM_024496 WILDTYPE +MSAAQVSSSRRQSCYLCDLPRMPWAMIWDFSEPVCRGCVNYEGADRIEFVIETARQLKRAHGCFQDGRSPGPPPPVGVKTVALSAKEAAAAAAAAAAAAA +AAQQQQQQQQQQQQQQQQQQQQQQQQQLNHVDGSSKPAVLAAPSGLERYGLSAAAAAAAAAAAAVEQRSRFEYPPPPVSLGSSSHTARLPNGLGGPNGFP +KPTPEEGPPELNRQSPNSSSAAASVASRRGTHGGLVTGLPNPGGGGGPQLTVPPNLLPQTLLNGPASAAVLPPPPPHALGSRGPPTPAPPGAPGGPACLG +GTPGVSATSSSASSSTSSSVAEVGVGAGGKRPGSVSSTDQERELKEKQRNAEALAELSESLRNRAEEWASKPKMVRDTLLTLAGCTPYEVRFKKDHSLLG +RVFAFDAVSKPGMDYELKLFIEYPTGSGNVYSSASGVAKQMYQDCMKDFGRGLSSGFKYLEYEKKHGSGDWRLLGDLLPEAVRFFKEGVPGADMLPQPYL +DASCPMLPTALVSLSRAPSAPPGTGALPPAAPSGRGAAASLRKRKASPEPPDSAEGALKLGEEQQRQQWMANQSEALKLTMSAGGFAAPGHAAGGPPPPP +PPLGPHSNRTTPPESAPQNGPSPMAALMSVADTLGTAHSPKDGSSVHSTTASARRNSSSPVSPASVPGQRRLASRNGDLNLQVAPPPPSAHPGMDQVHPQ +NIPDSPMANSGPLCCTICHERLEDTHFVQCPSVPSHKFCFPCSRESIKAQGATGEVYCPSGEKCPLVGSNVPWAFMQGEIATILAGDVKVKKERDP* +>line29745 NM_024496 c.486_488del p.A164del protein-altering (position 164 changed from A to ) +MSAAQVSSSRRQSCYLCDLPRMPWAMIWDFSEPVCRGCVNYEGADRIEFVIETARQLKRAHGCFQDGRSPGPPPPVGVKTVALSAKEAAAAAAAAAAAAA +AAQQQQQQQQQQQQQQQQQQQQQQQQQLNHVDGSSKPAVLAAPSGLERYGLSAAAAAAAAAAAVEQRSRFEYPPPPVSLGSSSHTARLPNGLGGPNGFPK +PTPEEGPPELNRQSPNSSSAAASVASRRGTHGGLVTGLPNPGGGGGPQLTVPPNLLPQTLLNGPASAAVLPPPPPHALGSRGPPTPAPPGAPGGPACLGG +TPGVSATSSSASSSTSSSVAEVGVGAGGKRPGSVSSTDQERELKEKQRNAEALAELSESLRNRAEEWASKPKMVRDTLLTLAGCTPYEVRFKKDHSLLGR +VFAFDAVSKPGMDYELKLFIEYPTGSGNVYSSASGVAKQMYQDCMKDFGRGLSSGFKYLEYEKKHGSGDWRLLGDLLPEAVRFFKEGVPGADMLPQPYLD +ASCPMLPTALVSLSRAPSAPPGTGALPPAAPSGRGAAASLRKRKASPEPPDSAEGALKLGEEQQRQQWMANQSEALKLTMSAGGFAAPGHAAGGPPPPPP +PLGPHSNRTTPPESAPQNGPSPMAALMSVADTLGTAHSPKDGSSVHSTTASARRNSSSPVSPASVPGQRRLASRNGDLNLQVAPPPPSAHPGMDQVHPQN +IPDSPMANSGPLCCTICHERLEDTHFVQCPSVPSHKFCFPCSRESIKAQGATGEVYCPSGEKCPLVGSNVPWAFMQGEIATILAGDVKVKKERDP* +>line29746 NM_024496 WILDTYPE +MSAAQVSSSRRQSCYLCDLPRMPWAMIWDFSEPVCRGCVNYEGADRIEFVIETARQLKRAHGCFQDGRSPGPPPPVGVKTVALSAKEAAAAAAAAAAAAA +AAQQQQQQQQQQQQQQQQQQQQQQQQQLNHVDGSSKPAVLAAPSGLERYGLSAAAAAAAAAAAAVEQRSRFEYPPPPVSLGSSSHTARLPNGLGGPNGFP +KPTPEEGPPELNRQSPNSSSAAASVASRRGTHGGLVTGLPNPGGGGGPQLTVPPNLLPQTLLNGPASAAVLPPPPPHALGSRGPPTPAPPGAPGGPACLG +GTPGVSATSSSASSSTSSSVAEVGVGAGGKRPGSVSSTDQERELKEKQRNAEALAELSESLRNRAEEWASKPKMVRDTLLTLAGCTPYEVRFKKDHSLLG +RVFAFDAVSKPGMDYELKLFIEYPTGSGNVYSSASGVAKQMYQDCMKDFGRGLSSGFKYLEYEKKHGSGDWRLLGDLLPEAVRFFKEGVPGADMLPQPYL +DASCPMLPTALVSLSRAPSAPPGTGALPPAAPSGRGAAASLRKRKASPEPPDSAEGALKLGEEQQRQQWMANQSEALKLTMSAGGFAAPGHAAGGPPPPP +PPLGPHSNRTTPPESAPQNGPSPMAALMSVADTLGTAHSPKDGSSVHSTTASARRNSSSPVSPASVPGQRRLASRNGDLNLQVAPPPPSAHPGMDQVHPQ +NIPDSPMANSGPLCCTICHERLEDTHFVQCPSVPSHKFCFPCSRESIKAQGATGEVYCPSGEKCPLVGSNVPWAFMQGEIATILAGDVKVKKERDP* +>line29746 NM_024496 c.369_374del p.Q126_Q127del protein-altering (position 126-127 changed from QQ to ) +MSAAQVSSSRRQSCYLCDLPRMPWAMIWDFSEPVCRGCVNYEGADRIEFVIETARQLKRAHGCFQDGRSPGPPPPVGVKTVALSAKEAAAAAAAAAAAAA +AAQQQQQQQQQQQQQQQQQQQQQQQLNHVDGSSKPAVLAAPSGLERYGLSAAAAAAAAAAAAVEQRSRFEYPPPPVSLGSSSHTARLPNGLGGPNGFPKP +TPEEGPPELNRQSPNSSSAAASVASRRGTHGGLVTGLPNPGGGGGPQLTVPPNLLPQTLLNGPASAAVLPPPPPHALGSRGPPTPAPPGAPGGPACLGGT +PGVSATSSSASSSTSSSVAEVGVGAGGKRPGSVSSTDQERELKEKQRNAEALAELSESLRNRAEEWASKPKMVRDTLLTLAGCTPYEVRFKKDHSLLGRV +FAFDAVSKPGMDYELKLFIEYPTGSGNVYSSASGVAKQMYQDCMKDFGRGLSSGFKYLEYEKKHGSGDWRLLGDLLPEAVRFFKEGVPGADMLPQPYLDA +SCPMLPTALVSLSRAPSAPPGTGALPPAAPSGRGAAASLRKRKASPEPPDSAEGALKLGEEQQRQQWMANQSEALKLTMSAGGFAAPGHAAGGPPPPPPP +LGPHSNRTTPPESAPQNGPSPMAALMSVADTLGTAHSPKDGSSVHSTTASARRNSSSPVSPASVPGQRRLASRNGDLNLQVAPPPPSAHPGMDQVHPQNI +PDSPMANSGPLCCTICHERLEDTHFVQCPSVPSHKFCFPCSRESIKAQGATGEVYCPSGEKCPLVGSNVPWAFMQGEIATILAGDVKVKKERDP* +>line29895 NM_001164776 WILDTYPE +MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQQPSGNMDDSGFFSIQTAAKAATAAAAAAAGGPIRTEF +TSM* +>line29895 NM_001164776 c.278_279insC p.P95Tfs*23 protein-altering (position 95-103 changed from PIRTEFTSM to TYQDRVHIHVKGQPPVQEHLGVI) +MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQQPSGNMDDSGFFSIQTAAKAATAAAAAAAGGTYQDRV +HIHVKGQPPVQEHLGVI* +>line29896 NM_001164776 WILDTYPE +MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQQPSGNMDDSGFFSIQTAAKAATAAAAAAAGGPIRTEF +TSM* +>line29896 NM_001164776 c.277_278insCAGCAGCAGCAGCAGCA p.G93Afs*62 protein-altering (position 93-103 changed from GGPIRTEFTSM to AAAAAAGDLSGQSSHPCERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGKK) +MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQQPSGNMDDSGFFSIQTAAKAATAAAAAAAAAAAAAGD +LSGQSSHPCERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGKK* +>line29925 NM_001301690 WILDTYPE +MRSAAVLALLLCAGQVTALPVNSPMNKGDTEVMKCIVEVISDTLSKPSPMPVSQECFETLRGDERILSILRHQNLLKELQDLALQGAKERAHQQKKHSGF +EDELSEVLENQSSQAELKGRSEALAVDGAGKPGAEEAQDPEGKGEQEHSQQKEEEEEMAVVPQGLFRGGKSGELEQEEERLSKEWEDSKRWSKMDQLAKE +LTAEKRLEGQEEEEDNRDSSMKLSFRARAYGFRGPGPQLRRGWRPSSREDSLEAGLPLQVRGYPEEKKEEEGSANRRPEDQELESLSAIEAELEKVAHQL +QALRRG* +>line29925 NM_001301690 c.629_631del p.E214del protein-altering (position 214 changed from E to ) +MRSAAVLALLLCAGQVTALPVNSPMNKGDTEVMKCIVEVISDTLSKPSPMPVSQECFETLRGDERILSILRHQNLLKELQDLALQGAKERAHQQKKHSGF +EDELSEVLENQSSQAELKGRSEALAVDGAGKPGAEEAQDPEGKGEQEHSQQKEEEEEMAVVPQGLFRGGKSGELEQEEERLSKEWEDSKRWSKMDQLAKE +LTAEKRLEGQEEEDNRDSSMKLSFRARAYGFRGPGPQLRRGWRPSSREDSLEAGLPLQVRGYPEEKKEEEGSANRRPEDQELESLSAIEAELEKVAHQLQ +ALRRG* +>line29939 NM_020414 WILDTYPE +MKLKDTKSRPKQSSCGKFQTKGIKVVGKWKEVKIDPNMFADGQMDDLVCFEELTDYQLVSPAKNPSSLFSKEAPKRKAQAVSEEEEEEEGKSSSPKKKIK +LKKSKNVATEGTSTQKEFEVKDPELEAQGDDMVCDDPEAGEMTSENLVQTAPKKKKNKGKKGLEPSQSTAAKVPKKAKTWIPEVHDQKADVSAWKDLFVP +RPVLRALSFLGFSAPTPIQALTLAPAIRDKLDILGAAETGSGKTLAFAIPMIHAVLQWQKRNAAPPPSNTEAPPGETRTEAGAETRSPGKAEAESDALPD +DTVIESEALPSDIAAEARAKTGGTVSDQALLFGDDDAGEGPSSLIREKPVPKQNENEEENLDKEQTGNLKQELDDKSATCKAYPKRPLLGLVLTPTRELA +VQVKQHIDAVARFTGIKTAILVGGMSTQKQQRMLNRRPEIVVATPGRLWELIKEKHYHLRNLRQLRCLVVDEADRMVEKGHFAELSQLLEMLNDSQYNPK +RQTLVFSATLTLVHQAPARILHKKHTKKMDKTAKLDLLMQKIGMRGKPKVIDLTRNEATVETLTETKIHCETDEKDFYLYYFLMQYPGRSLVFANSISCI +KRLSGLLKVLDIMPLTLHACMHQKQRLRNLEQFARLEDCVLLATDVAARGLDIPKVQHVIHYQVPRTSEIYVHRSGRTARATNEGLSLMLIGPEDVINFK +KIYKTLKKDEDIPLFPVQTKYMDVVKERIRLARQIEKSEYRNFQACLHNSWIEQAAAALEIELEEDMYKGGKADQQEERRRQKQMKVLKKELRHLLSQPL +FTESQKTKYPTQSGKPPLLVSAPSKSESALSCLSKQKKKKTKKPKEPQPEQPQPSTSAN* +>line29939 NM_020414 c.266_268del p.E89del protein-altering (position 89 changed from E to ) +MKLKDTKSRPKQSSCGKFQTKGIKVVGKWKEVKIDPNMFADGQMDDLVCFEELTDYQLVSPAKNPSSLFSKEAPKRKAQAVSEEEEEEGKSSSPKKKIKL +KKSKNVATEGTSTQKEFEVKDPELEAQGDDMVCDDPEAGEMTSENLVQTAPKKKKNKGKKGLEPSQSTAAKVPKKAKTWIPEVHDQKADVSAWKDLFVPR +PVLRALSFLGFSAPTPIQALTLAPAIRDKLDILGAAETGSGKTLAFAIPMIHAVLQWQKRNAAPPPSNTEAPPGETRTEAGAETRSPGKAEAESDALPDD +TVIESEALPSDIAAEARAKTGGTVSDQALLFGDDDAGEGPSSLIREKPVPKQNENEEENLDKEQTGNLKQELDDKSATCKAYPKRPLLGLVLTPTRELAV +QVKQHIDAVARFTGIKTAILVGGMSTQKQQRMLNRRPEIVVATPGRLWELIKEKHYHLRNLRQLRCLVVDEADRMVEKGHFAELSQLLEMLNDSQYNPKR +QTLVFSATLTLVHQAPARILHKKHTKKMDKTAKLDLLMQKIGMRGKPKVIDLTRNEATVETLTETKIHCETDEKDFYLYYFLMQYPGRSLVFANSISCIK +RLSGLLKVLDIMPLTLHACMHQKQRLRNLEQFARLEDCVLLATDVAARGLDIPKVQHVIHYQVPRTSEIYVHRSGRTARATNEGLSLMLIGPEDVINFKK +IYKTLKKDEDIPLFPVQTKYMDVVKERIRLARQIEKSEYRNFQACLHNSWIEQAAAALEIELEEDMYKGGKADQQEERRRQKQMKVLKKELRHLLSQPLF +TESQKTKYPTQSGKPPLLVSAPSKSESALSCLSKQKKKKTKKPKEPQPEQPQPSTSAN* +>line29940 NM_001288995 WILDTYPE +MEASALTSSAVTSVAKVVRVASGSAVVLPLARIATVVIGGVVAVPMVLSAMGFTAAGIASSSIAAKMMSAAAIANGGGVASGSLVATLQSLGATGLSGLT +KFILGSIGSAIAAVIARFY* +>line29940 NM_001288995 c.125_126insGGCCATGGC p.A43_V44insMAA protein-altering (position 43-44 has insertion MAA) +MEASALTSSAVTSVAKVVRVASGSAVVLPLARIATVVIGGVVAMAAVPMVLSAMGFTAAGIASSSIAAKMMSAAAIANGGGVASGSLVATLQSLGATGLS +GLTKFILGSIGSAIAAVIARFY* +>line29987 NM_022898 WILDTYPE +MSRRKQGNPQHLSQRELITPEADHVEAAILEEDEGLEIEEPSGLGLMVGGPDPDLLTCGQCQMNFPLGDILVFIEHKRKQCGGSLGACYDKALDKDSPPP +SSRSELRKVSEPVEIGIQVTPDEDDHLLSPTKGICPKQENIAGKDEPSSYICTTCKQPFNSAWFLLQHAQNTHGFRIYLEPGPASSSLTPRLTIPPPLGP +EAVAQSPLMNFLGDSNPFNLLRMTGPILRDHPGFGEGRLPGTPPLFSPPPRHHLDPHRLSAEEMGLVAQHPSAFDRVMRLNPMAIDSPAMDFSRRLRELA +GNSSTPPPVSPGRGNPMHRLLNPFQPSPKSPFLSTPPLPPMPPGGTPPPQPPAKSKSCEFCGKTFKFQSNLIVHRRSHTGEKPYKCQLCDHACSQASKLK +RHMKTHMHKAGSLAGRSDDGLSAASSPEPGTSELAGEGLKAADGDFRHHESDPSLGHEPEEEDEEEEEEEEELLLENESRPESSFSMDSELSRNRENGGG +GVPGVPGAGGGAAKALADEKALVLGKVMENVGLGALPQYGELLADKQKRGAFLKRAAGGGDAGDDDDAGGCGDAGAGGAVNGRGGGFAPGTEPFPGLFPR +KPAPLPSPGLNSAAKRIKVEKDLELPPAALIPSENVYSQWLVGYAASRHFMKDPFLGFTDARQSPFATSSEHSSENGSLRFSTPPGDLLDGGLSGRSGTA +SGGSTPHLGGPGPGRPSSKEGRRSDTCEYCGKVFKNCSNLTVHRRSHTGERPYKCELCNYACAQSSKLTRHMKTHGQIGKEVYRCDICQMPFSVYSTLEK +HMKKWHGEHLLTNDVKIEQAERS* +>line29987 NM_022898 c.1414_1416del p.E472del protein-altering (position 472 changed from E to ) +MSRRKQGNPQHLSQRELITPEADHVEAAILEEDEGLEIEEPSGLGLMVGGPDPDLLTCGQCQMNFPLGDILVFIEHKRKQCGGSLGACYDKALDKDSPPP +SSRSELRKVSEPVEIGIQVTPDEDDHLLSPTKGICPKQENIAGKDEPSSYICTTCKQPFNSAWFLLQHAQNTHGFRIYLEPGPASSSLTPRLTIPPPLGP +EAVAQSPLMNFLGDSNPFNLLRMTGPILRDHPGFGEGRLPGTPPLFSPPPRHHLDPHRLSAEEMGLVAQHPSAFDRVMRLNPMAIDSPAMDFSRRLRELA +GNSSTPPPVSPGRGNPMHRLLNPFQPSPKSPFLSTPPLPPMPPGGTPPPQPPAKSKSCEFCGKTFKFQSNLIVHRRSHTGEKPYKCQLCDHACSQASKLK +RHMKTHMHKAGSLAGRSDDGLSAASSPEPGTSELAGEGLKAADGDFRHHESDPSLGHEPEEEDEEEEEEEELLLENESRPESSFSMDSELSRNRENGGGG +VPGVPGAGGGAAKALADEKALVLGKVMENVGLGALPQYGELLADKQKRGAFLKRAAGGGDAGDDDDAGGCGDAGAGGAVNGRGGGFAPGTEPFPGLFPRK +PAPLPSPGLNSAAKRIKVEKDLELPPAALIPSENVYSQWLVGYAASRHFMKDPFLGFTDARQSPFATSSEHSSENGSLRFSTPPGDLLDGGLSGRSGTAS +GGSTPHLGGPGPGRPSSKEGRRSDTCEYCGKVFKNCSNLTVHRRSHTGERPYKCELCNYACAQSSKLTRHMKTHGQIGKEVYRCDICQMPFSVYSTLEKH +MKKWHGEHLLTNDVKIEQAERS* +>line30027 NM_001017963 WILDTYPE +MPPCSGGDGSTPPGPSLRDRDCPAQSAEYPRDRLDPRPGSPSEASSPPFLRSRAPVNWYQEKAQVFLWHLMVSGSTTLLCLWKQPFHVSAFPVTASLAFR +QSQGAGQHLYKDLQPFILLRLLMPEETQTQDQPMEEEEVETFAFQAEIAQLMSLIINTFYSNKEIFLRELISNSSDALDKIRYESLTDPSKLDSGKELHI +NLIPNKQDRTLTIVDTGIGMTKADLINNLGTIAKSGTKAFMEALQAGADISMIGQFGVGFYSAYLVAEKVTVITKHNDDEQYAWESSAGGSFTVRTDTGE +PMGRGTKVILHLKEDQTEYLEERRIKEIVKKHSQFIGYPITLFVEKERDKEVSDDEAEEKEDKEEEKEKEEKESEDKPEIEDVGSDEEEEKKDGDKKKKK +KIKEKYIDQEELNKTKPIWTRNPDDITNEEYGEFYKSLTNDWEDHLAVKHFSVEGQLEFRALLFVPRRAPFDLFENRKKKNNIKLYVRRVFIMDNCEELI +PEYLNFIRGVVDSEDLPLNISREMLQQSKILKVIRKNLVKKCLELFTELAEDKENYKKFYEQFSKNIKLGIHEDSQNRKKLSELLRYYTSASGDEMVSLK +DYCTRMKENQKHIYYITGETKDQVANSAFVERLRKHGLEVIYMIEPIDEYCVQQLKEFEGKTLVSVTKEGLELPEDEEEKKKQEEKKTKFENLCKIMKDI +LEKKVEKVVVSNRLVTSPCCIVTSTYGWTANMERIMKAQALRDNSTMGYMAAKKHLEINPDHSIIETLRQKAEADKNDKSVKDLVILLYETALLSSGFSL +EDPQTHANRIYRMIKLGLGIDEDDPTADDTSAAVTEEMPPLEGDDDTSRMEEVD* +>line30027 NM_001017963 c.1202_1204del p.K401del protein-altering (position 401 changed from K to ) +MPPCSGGDGSTPPGPSLRDRDCPAQSAEYPRDRLDPRPGSPSEASSPPFLRSRAPVNWYQEKAQVFLWHLMVSGSTTLLCLWKQPFHVSAFPVTASLAFR +QSQGAGQHLYKDLQPFILLRLLMPEETQTQDQPMEEEEVETFAFQAEIAQLMSLIINTFYSNKEIFLRELISNSSDALDKIRYESLTDPSKLDSGKELHI +NLIPNKQDRTLTIVDTGIGMTKADLINNLGTIAKSGTKAFMEALQAGADISMIGQFGVGFYSAYLVAEKVTVITKHNDDEQYAWESSAGGSFTVRTDTGE +PMGRGTKVILHLKEDQTEYLEERRIKEIVKKHSQFIGYPITLFVEKERDKEVSDDEAEEKEDKEEEKEKEEKESEDKPEIEDVGSDEEEEKKDGDKKKKK +IKEKYIDQEELNKTKPIWTRNPDDITNEEYGEFYKSLTNDWEDHLAVKHFSVEGQLEFRALLFVPRRAPFDLFENRKKKNNIKLYVRRVFIMDNCEELIP +EYLNFIRGVVDSEDLPLNISREMLQQSKILKVIRKNLVKKCLELFTELAEDKENYKKFYEQFSKNIKLGIHEDSQNRKKLSELLRYYTSASGDEMVSLKD +YCTRMKENQKHIYYITGETKDQVANSAFVERLRKHGLEVIYMIEPIDEYCVQQLKEFEGKTLVSVTKEGLELPEDEEEKKKQEEKKTKFENLCKIMKDIL +EKKVEKVVVSNRLVTSPCCIVTSTYGWTANMERIMKAQALRDNSTMGYMAAKKHLEINPDHSIIETLRQKAEADKNDKSVKDLVILLYETALLSSGFSLE +DPQTHANRIYRMIKLGLGIDEDDPTADDTSAAVTEEMPPLEGDDDTSRMEEVD* +>line30280 NM_001304388 WILDTYPE +MWPQPHLPPHPMMSEKTRQNKLAEAKKKFTDYRQWNIAGVGTRATDTKKKKINNGTNPETTTSEGCHSPEDTQQNRAQLKEEKKASHQHQEALRREIEAQ +DHTIRILTCQKTELETALYYSQDAARKFEDGNLGTPSSFNLALSQAFRGSPLGCVSTSLIPGESKDLAGRLHHSWHFAGELQRALSAVSTWHKKADRYIE +ELTKERDALSLELYRNTITNEELKKKNAELQEKLRLAESEKSEIQLNVKELKRKLERAKFLLPQVQTNTLQEEMWRQEEELREQEKKIRKQEEKMWRQEE +RLREQEGKMREQEEKMRRQEKRLREQEKELREQEKELREQKKLREQEEQMQEQEEKMWEQEEKMREQEEKMWRQEERLWEQEKQMREQEQKMRDQEERMW +EQDERLREKEERMREQEKMWEQVEKMREEKKMQEQEKKTRDQEEKMQEEERIREREKKMREEEETMREQEEKMQKQEENMWEQEEKEWQQQRLPEQKEKL +WEQEKMQEQEEKIWEQEEKIRDQEEMWGQEKKMWRQEKMREQEDVETGGEAAGAGEADVGAGGEDAGSGAEDVGPGGEDVGAGREAAGEGGENAGAEEDV +AAGGEDAGGEEDAGAGEEDMGPGGEDARGGEDAGAGEEDAGGGGDDAGAGGEDAGAGREDAGAGGEDVGAGREDAGAGGEDVGAGGEDVGAGRRRCGSSR +GCRNRRRSCGNTRRCRSRRSGAEDVGPEGEDVGAGREAAGEGGENAGAEDVAAGGEDAGEEEDAGGEDAGAAREDAGAGGDDVGAGREDAGAGGEDVGAG +GEDAGAGGEDAGAGGEDAGPGGEDAGAGGEDAGPGGEDAGAGGEDAGPGGEDVGPGGEDVGAGGEDVGAGGDAREGGEDTRSEREDAGEAARARGAVLRA +LPPSLQSSL* +>line30280 NM_001304388 c.1983_2024del p.R672_G685del protein-altering (position 672-685 changed from REDAGAGGEDVGAG to ) +MWPQPHLPPHPMMSEKTRQNKLAEAKKKFTDYRQWNIAGVGTRATDTKKKKINNGTNPETTTSEGCHSPEDTQQNRAQLKEEKKASHQHQEALRREIEAQ +DHTIRILTCQKTELETALYYSQDAARKFEDGNLGTPSSFNLALSQAFRGSPLGCVSTSLIPGESKDLAGRLHHSWHFAGELQRALSAVSTWHKKADRYIE +ELTKERDALSLELYRNTITNEELKKKNAELQEKLRLAESEKSEIQLNVKELKRKLERAKFLLPQVQTNTLQEEMWRQEEELREQEKKIRKQEEKMWRQEE +RLREQEGKMREQEEKMRRQEKRLREQEKELREQEKELREQKKLREQEEQMQEQEEKMWEQEEKMREQEEKMWRQEERLWEQEKQMREQEQKMRDQEERMW +EQDERLREKEERMREQEKMWEQVEKMREEKKMQEQEKKTRDQEEKMQEEERIREREKKMREEEETMREQEEKMQKQEENMWEQEEKEWQQQRLPEQKEKL +WEQEKMQEQEEKIWEQEEKIRDQEEMWGQEKKMWRQEKMREQEDVETGGEAAGAGEADVGAGGEDAGSGAEDVGPGGEDVGAGREAAGEGGENAGAEEDV +AAGGEDAGGEEDAGAGEEDMGPGGEDARGGEDAGAGEEDAGGGGDDAGAGGEDAGAGREDAGAGGEDVGAGGEDVGAGRRRCGSSRGCRNRRRSCGNTRR +CRSRRSGAEDVGPEGEDVGAGREAAGEGGENAGAEDVAAGGEDAGEEEDAGGEDAGAAREDAGAGGDDVGAGREDAGAGGEDVGAGGEDAGAGGEDAGAG +GEDAGPGGEDAGAGGEDAGPGGEDAGAGGEDAGPGGEDVGPGGEDVGAGGEDVGAGGDAREGGEDTRSEREDAGEAARARGAVLRALPPSLQSSL* +>line30282 NM_001304388 WILDTYPE +MWPQPHLPPHPMMSEKTRQNKLAEAKKKFTDYRQWNIAGVGTRATDTKKKKINNGTNPETTTSEGCHSPEDTQQNRAQLKEEKKASHQHQEALRREIEAQ +DHTIRILTCQKTELETALYYSQDAARKFEDGNLGTPSSFNLALSQAFRGSPLGCVSTSLIPGESKDLAGRLHHSWHFAGELQRALSAVSTWHKKADRYIE +ELTKERDALSLELYRNTITNEELKKKNAELQEKLRLAESEKSEIQLNVKELKRKLERAKFLLPQVQTNTLQEEMWRQEEELREQEKKIRKQEEKMWRQEE +RLREQEGKMREQEEKMRRQEKRLREQEKELREQEKELREQKKLREQEEQMQEQEEKMWEQEEKMREQEEKMWRQEERLWEQEKQMREQEQKMRDQEERMW +EQDERLREKEERMREQEKMWEQVEKMREEKKMQEQEKKTRDQEEKMQEEERIREREKKMREEEETMREQEEKMQKQEENMWEQEEKEWQQQRLPEQKEKL +WEQEKMQEQEEKIWEQEEKIRDQEEMWGQEKKMWRQEKMREQEDVETGGEAAGAGEADVGAGGEDAGSGAEDVGPGGEDVGAGREAAGEGGENAGAEEDV +AAGGEDAGGEEDAGAGEEDMGPGGEDARGGEDAGAGEEDAGGGGDDAGAGGEDAGAGREDAGAGGEDVGAGREDAGAGGEDVGAGGEDVGAGRRRCGSSR +GCRNRRRSCGNTRRCRSRRSGAEDVGPEGEDVGAGREAAGEGGENAGAEDVAAGGEDAGEEEDAGGEDAGAAREDAGAGGDDVGAGREDAGAGGEDVGAG +GEDAGAGGEDAGAGGEDAGPGGEDAGAGGEDAGPGGEDAGAGGEDAGPGGEDVGPGGEDVGAGGEDVGAGGDAREGGEDTRSEREDAGEAARARGAVLRA +LPPSLQSSL* +>line30282 NM_001304388 c.1871_1873del p.G624del protein-altering (position 624 changed from G to ) +MWPQPHLPPHPMMSEKTRQNKLAEAKKKFTDYRQWNIAGVGTRATDTKKKKINNGTNPETTTSEGCHSPEDTQQNRAQLKEEKKASHQHQEALRREIEAQ +DHTIRILTCQKTELETALYYSQDAARKFEDGNLGTPSSFNLALSQAFRGSPLGCVSTSLIPGESKDLAGRLHHSWHFAGELQRALSAVSTWHKKADRYIE +ELTKERDALSLELYRNTITNEELKKKNAELQEKLRLAESEKSEIQLNVKELKRKLERAKFLLPQVQTNTLQEEMWRQEEELREQEKKIRKQEEKMWRQEE +RLREQEGKMREQEEKMRRQEKRLREQEKELREQEKELREQKKLREQEEQMQEQEEKMWEQEEKMREQEEKMWRQEERLWEQEKQMREQEQKMRDQEERMW +EQDERLREKEERMREQEKMWEQVEKMREEKKMQEQEKKTRDQEEKMQEEERIREREKKMREEEETMREQEEKMQKQEENMWEQEEKEWQQQRLPEQKEKL +WEQEKMQEQEEKIWEQEEKIRDQEEMWGQEKKMWRQEKMREQEDVETGGEAAGAGEADVGAGGEDAGSGAEDVGPGGEDVGAGREAAGEGGENAGAEEDV +AAGGEDAGGEEDAGAGEEDMGPGEDARGGEDAGAGEEDAGGGGDDAGAGGEDAGAGREDAGAGGEDVGAGREDAGAGGEDVGAGGEDVGAGRRRCGSSRG +CRNRRRSCGNTRRCRSRRSGAEDVGPEGEDVGAGREAAGEGGENAGAEDVAAGGEDAGEEEDAGGEDAGAAREDAGAGGDDVGAGREDAGAGGEDVGAGG +EDAGAGGEDAGAGGEDAGPGGEDAGAGGEDAGPGGEDAGAGGEDAGPGGEDVGPGGEDVGAGGEDVGAGGDAREGGEDTRSEREDAGEAARARGAVLRAL +PPSLQSSL* +>line30283 NM_001304388 WILDTYPE +MWPQPHLPPHPMMSEKTRQNKLAEAKKKFTDYRQWNIAGVGTRATDTKKKKINNGTNPETTTSEGCHSPEDTQQNRAQLKEEKKASHQHQEALRREIEAQ +DHTIRILTCQKTELETALYYSQDAARKFEDGNLGTPSSFNLALSQAFRGSPLGCVSTSLIPGESKDLAGRLHHSWHFAGELQRALSAVSTWHKKADRYIE +ELTKERDALSLELYRNTITNEELKKKNAELQEKLRLAESEKSEIQLNVKELKRKLERAKFLLPQVQTNTLQEEMWRQEEELREQEKKIRKQEEKMWRQEE +RLREQEGKMREQEEKMRRQEKRLREQEKELREQEKELREQKKLREQEEQMQEQEEKMWEQEEKMREQEEKMWRQEERLWEQEKQMREQEQKMRDQEERMW +EQDERLREKEERMREQEKMWEQVEKMREEKKMQEQEKKTRDQEEKMQEEERIREREKKMREEEETMREQEEKMQKQEENMWEQEEKEWQQQRLPEQKEKL +WEQEKMQEQEEKIWEQEEKIRDQEEMWGQEKKMWRQEKMREQEDVETGGEAAGAGEADVGAGGEDAGSGAEDVGPGGEDVGAGREAAGEGGENAGAEEDV +AAGGEDAGGEEDAGAGEEDMGPGGEDARGGEDAGAGEEDAGGGGDDAGAGGEDAGAGREDAGAGGEDVGAGREDAGAGGEDVGAGGEDVGAGRRRCGSSR +GCRNRRRSCGNTRRCRSRRSGAEDVGPEGEDVGAGREAAGEGGENAGAEDVAAGGEDAGEEEDAGGEDAGAAREDAGAGGDDVGAGREDAGAGGEDVGAG +GEDAGAGGEDAGAGGEDAGPGGEDAGAGGEDAGPGGEDAGAGGEDAGPGGEDVGPGGEDVGAGGEDVGAGGDAREGGEDTRSEREDAGEAARARGAVLRA +LPPSLQSSL* +>line30283 NM_001304388 c.1699_1700insAAGCAGGAGGAGAAGATGCGG p.A566_G567insEAGGEDA protein-altering (position 566-567 has insertion EAGGEDA) +MWPQPHLPPHPMMSEKTRQNKLAEAKKKFTDYRQWNIAGVGTRATDTKKKKINNGTNPETTTSEGCHSPEDTQQNRAQLKEEKKASHQHQEALRREIEAQ +DHTIRILTCQKTELETALYYSQDAARKFEDGNLGTPSSFNLALSQAFRGSPLGCVSTSLIPGESKDLAGRLHHSWHFAGELQRALSAVSTWHKKADRYIE +ELTKERDALSLELYRNTITNEELKKKNAELQEKLRLAESEKSEIQLNVKELKRKLERAKFLLPQVQTNTLQEEMWRQEEELREQEKKIRKQEEKMWRQEE +RLREQEGKMREQEEKMRRQEKRLREQEKELREQEKELREQKKLREQEEQMQEQEEKMWEQEEKMREQEEKMWRQEERLWEQEKQMREQEQKMRDQEERMW +EQDERLREKEERMREQEKMWEQVEKMREEKKMQEQEKKTRDQEEKMQEEERIREREKKMREEEETMREQEEKMQKQEENMWEQEEKEWQQQRLPEQKEKL +WEQEKMQEQEEKIWEQEEKIRDQEEMWGQEKKMWRQEKMREQEDVETGGEAAGAGEADVGAGGEDAEAGGEDAGSGAEDVGPGGEDVGAGREAAGEGGEN +AGAEEDVAAGGEDAGGEEDAGAGEEDMGPGGEDARGGEDAGAGEEDAGGGGDDAGAGGEDAGAGREDAGAGGEDVGAGREDAGAGGEDVGAGGEDVGAGR +RRCGSSRGCRNRRRSCGNTRRCRSRRSGAEDVGPEGEDVGAGREAAGEGGENAGAEDVAAGGEDAGEEEDAGGEDAGAAREDAGAGGDDVGAGREDAGAG +GEDVGAGGEDAGAGGEDAGAGGEDAGPGGEDAGAGGEDAGPGGEDAGAGGEDAGPGGEDVGPGGEDVGAGGEDVGAGGDAREGGEDTRSEREDAGEAARA +RGAVLRALPPSLQSSL* +>line30564 NM_001284335 WILDTYPE +MAAAAAAAGDSDSWDADAFSVEDPVRKVGGGGTAGGDRWEGEDEDEDVKDNWDDDDDEKKEEAEVKPEVKISEKKKIAEKIKEKERQQKKRQEEIKKRLE +EPEEPKVLTPEEQLADKLRLKKLQEESDLELAKETFVEIDDLKKITNSLTVLCSEKQKQEKQSKAKKKKKGVVPGGGLKATMKDDLADYGGYDGGYVQDY +EDFM* +>line30564 NM_001284335 c.3_5del p.A8del protein-altering (position 8 changed from A to ) +MAAAAAAGDSDSWDADAFSVEDPVRKVGGGGTAGGDRWEGEDEDEDVKDNWDDDDDEKKEEAEVKPEVKISEKKKIAEKIKEKERQQKKRQEEIKKRLEE +PEEPKVLTPEEQLADKLRLKKLQEESDLELAKETFVEIDDLKKITNSLTVLCSEKQKQEKQSKAKKKKKGVVPGGGLKATMKDDLADYGGYDGGYVQDYE +DFM* +>line30726 NM_001033559 WILDTYPE +MPLQVSDYSWQQTKTAVFLSLPLKGVCVRDTDVFCTENYLKVNFPPFLFEAFLYAPIDDESSKAKIGNDTIVFTLYKKEAAMWETLSVTGVDKEMMQRIR +EKSILQAQERAKEATEAKAAAKREDQKYALSVMMKIEEEERKKIEDMKENERIKATKALEAWKEYQRKAEEQKKIQREEKLCQKEKQIKEERKKIKYKSL +TRNLASRNLAPKGRNSENIFTEKLKEDSIPAPRSVGSIKINFTPRVFPTALRESQVAEEEEWLHKQAEARRAMNTDIAELCDLKEEEKNPEWLKDKGNKL +FATENYLAAINAYNLAIRLNNKMPLLYLNRAACHLKLKNLHKAIEDSSKAYRIMKRHLRLIHPTKLYKLMLRRFGM* +>line30726 NM_001033559 c.523delA p.I175Ffs*20 protein-altering (position 175-376 changed from IQREEKLCQKEKQIKEERKKIKYKSLTRNLASRNLAPKGRNSENIFTEKLKEDSIPAPRSVGSIKINFTPRVFPTALRESQVAEEEEWLHKQAEARRAMNTDIAELCDLKEEEKNPEWLKDKGNKLFATENYLAAINAYNLAIRLNNKMPLLYLNRAACHLKLKNLHKAIEDSSKAYRIMKRHLRLIHPTKLYKLMLRRFGM to FREKRNYVKKKSKLKKKEKK) +MPLQVSDYSWQQTKTAVFLSLPLKGVCVRDTDVFCTENYLKVNFPPFLFEAFLYAPIDDESSKAKIGNDTIVFTLYKKEAAMWETLSVTGVDKEMMQRIR +EKSILQAQERAKEATEAKAAAKREDQKYALSVMMKIEEEERKKIEDMKENERIKATKALEAWKEYQRKAEEQKKFREKRNYVKKKSKLKKKEKK* +>line31026 NM_025055 WILDTYPE +MGLKNKKNTEDPEEPLIASQSTEPEIGHLSPSKKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQA +EDAGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALEIFLRGVNEPLANNPNPIV +VIARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPSMMNFDVPRVSQNGCPQLSKPGGPPEQPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGS +QPWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMDTSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSK +DTVSSTMDLSTSTPREAEEEPLVPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKASEAQNTVSMKQKLLLSELDMK +KLRDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKVIEKMERVLEDRLQDRSKPPPLNRQQGKPYTGFPMLSASGL +PLGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIILQQQALPDLLSGTSDKFNLLAKLEHAQSRILSLESQLEDSARRWGREKQDLATRLQEQEKG +FRHPSNSIIIEQPSALTHSMDLKQPSELEPLLPSSDSKLNKPLSPQKETANSQQT* +>line31026 NM_025055 c.97_99del p.K34del protein-altering (position 34 changed from K to ) +MGLKNKKNTEDPEEPLIASQSTEPEIGHLSPSKETIMVTLHGATNLPACKDGSEPWPYVVVKSTSEEKNNQSSKAVTSVTSEPTRAPIWGDTVNVEIQAE +DAGQEDVILKVVDNRKKQELLSYKIPIKYLRVFHPYHFELVKPTESGKADEATAKTQLYATVVRKSSFIPRYIGCNHMALEIFLRGVNEPLANNPNPIVV +IARVVPNYKEFKVSQANRDLASVGLPITPLSFPIPSMMNFDVPRVSQNGCPQLSKPGGPPEQPLWNQSFLFQGRDGATSFSEDTALVLEYYSSTSMKGSQ +PWTLNQPLGISVLPLKSRLYQKMLTGKGLDGLHVERLPIMDTSLKTINDEAPTVALSFQLLSSERPENFLTPNNSKALPTLDPKILDKKLRTIQESWSKD +TVSSTMDLSTSTPREAEEEPLVPEMSHDTEMNNYRRAMQKMAEDILSLRRQASILEGENRILRSRLAQQEEEEGQGKASEAQNTVSMKQKLLLSELDMKK +LRDRVQHLQNELIRKNDREKELLLLYQAQQPQAALLKQYQGKLQKMKALEETVRHQEKVIEKMERVLEDRLQDRSKPPPLNRQQGKPYTGFPMLSASGLP +LGSMGENLPVELYSVLLAENAKLRTELDKNRHQQAPIILQQQALPDLLSGTSDKFNLLAKLEHAQSRILSLESQLEDSARRWGREKQDLATRLQEQEKGF +RHPSNSIIIEQPSALTHSMDLKQPSELEPLLPSSDSKLNKPLSPQKETANSQQT* +>line31033 NM_001030005 WILDTYPE +MAFMVKTMVGGQLKNLTGSLGGGEDKGDGDKSAAEAQGMSREEYEEYQKQLVEEKMERDAQFTQRKAERATLRSHFRDKYRLPKNETDESQIQMAGGDVE +LPRELAKMIEEDTEEEEEKASVLGQLASLPGLNLGSLKDKAQATLGDLKQSAEKCHVM* +>line31033 NM_001030005 c.340_342del p.E118del protein-altering (position 118 changed from E to ) +MAFMVKTMVGGQLKNLTGSLGGGEDKGDGDKSAAEAQGMSREEYEEYQKQLVEEKMERDAQFTQRKAERATLRSHFRDKYRLPKNETDESQIQMAGGDVE +LPRELAKMIEEDTEEEEKASVLGQLASLPGLNLGSLKDKAQATLGDLKQSAEKCHVM* +>line31060 NM_003978 WILDTYPE +MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLRE +ELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEK +VRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPG +IQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVE +RNGQRGFVPGSYLEKL* +>line31060 NM_003978 c.1176_1177AA p.E393K protein-altering (position 393 changed from E to K) +MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLRE +ELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEK +VRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPG +IQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGKDGWWTVE +RNGQRGFVPGSYLEKL* +>line31095 NM_001146341 WILDTYPE +MMDDDTELRTDGNSLLKAVWLGRLRLTRLLLEGGAYINESNDKGETALMVACITKHVDQQSISKSKMVKYLLDNRADPNIQDKSGKTALIHACIRRAGGE +VVSLLLENGADPSLEDRTGASALVYAINADDKDALKHLLDACKAKGKEVIIITTDKSSSGTKTTKQYLNVPPSPKVEDRHSPPLCASPSDIELKALGLDS +PLTEKEDDFFSLQAGHPSSCNTSKAVNEPGSPTRKVSNLKRARLPQLKRLQSEPWGLIAPSVLAASTRQDETHGASTDNEVIKSISDISFPKRGPLSRTN +SIDSKDPTLFHTVTEQVLKIPVSSAPASWKAAYEKGQAPHPRLARRGTLPVDQEKCGMGPSGPSALKEPASLKWLENDLYDLDIQPGPDPPNSISLESGK +GPLDRKKLNSSHLSLFHGSRESLDTVPSTSPSSARRRPPHLLERRGSGTLLLDRISHTRPGFLPPLNVNLNPPIPDIRSSSKPSCSLASGLKSMVPVAPS +SPKRVDLRSKKKLLRRHSMQIEQMKQLSDFEEIMT* +>line31095 NM_001146341 c.1067_1069del p.G357del protein-altering (position 357 changed from G to ) +MMDDDTELRTDGNSLLKAVWLGRLRLTRLLLEGGAYINESNDKGETALMVACITKHVDQQSISKSKMVKYLLDNRADPNIQDKSGKTALIHACIRRAGGE +VVSLLLENGADPSLEDRTGASALVYAINADDKDALKHLLDACKAKGKEVIIITTDKSSSGTKTTKQYLNVPPSPKVEDRHSPPLCASPSDIELKALGLDS +PLTEKEDDFFSLQAGHPSSCNTSKAVNEPGSPTRKVSNLKRARLPQLKRLQSEPWGLIAPSVLAASTRQDETHGASTDNEVIKSISDISFPKRGPLSRTN +SIDSKDPTLFHTVTEQVLKIPVSSAPASWKAAYEKGQAPHPRLARRGTLPVDQEKCMGPSGPSALKEPASLKWLENDLYDLDIQPGPDPPNSISLESGKG +PLDRKKLNSSHLSLFHGSRESLDTVPSTSPSSARRRPPHLLERRGSGTLLLDRISHTRPGFLPPLNVNLNPPIPDIRSSSKPSCSLASGLKSMVPVAPSS +PKRVDLRSKKKLLRRHSMQIEQMKQLSDFEEIMT* +>line31131 NM_001160113 WILDTYPE +MLRLRSGLRHLRATPNTRGSARLLCAEMPKKAGATTKGKSQSKEPERPLPPLGPVAVDPKGCVTIAIHAKPGSKQNAVTDLTAEAVNVAIAAPPSEGEAN +AELCRYLSKVLELRKSDVVLDKVGLALFFFFLRQNLALSPKLECSGVVLAHCNLHLLGSSYSPASAS* +>line31131 NM_001160113 c.395delT p.L132fs*0 immediate-stopgain (position 132-167 changed from LRQNLALSPKLECSGVVLAHCNLHLLGSSYSPASAS to ) +MLRLRSGLRHLRATPNTRGSARLLCAEMPKKAGATTKGKSQSKEPERPLPPLGPVAVDPKGCVTIAIHAKPGSKQNAVTDLTAEAVNVAIAAPPSEGEAN +AELCRYLSKVLELRKSDVVLDKVGLALFFFF* +>line31189 NM_002693 WILDTYPE +MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLSRGLHEQIFGQGGEMPGEAAV +RRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVE +VCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMA +ISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDV +WATHEVFQQQLPLFLERCPHPVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYKEDPWLWDLEWDLQEFKQKKA +KKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLPKRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTP +KLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVE +AEAKMENLRAAVPGQPLALTARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQAGPGGASGPRALEINKMISF +WRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAILPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAA +VLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQPFAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDE +GEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKKWEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWV +VQSSAVDYLHLMLVAMKWLFEEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTP +SNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP* +>line31189 NM_002693 c.156_158del p.Q55del protein-altering (position 55 changed from Q to ) +MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLSRGLHEQIFGQGGEMPGEAAVR +RSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEV +CLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMAI +SGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVW +ATHEVFQQQLPLFLERCPHPVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYKEDPWLWDLEWDLQEFKQKKAK +KVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLPKRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPK +LMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEA +EAKMENLRAAVPGQPLALTARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQAGPGGASGPRALEINKMISFW +RNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAILPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAAV +LGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQPFAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEG +EWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKKWEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVV +QSSAVDYLHLMLVAMKWLFEEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTPS +NPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP* +>line31236 NM_207446 WILDTYPE +MRAVPLPAPLLPLLLLALLAAPAARASRAESVSAPWPEPERESRPPPGPGPGNTTRFGSGAAGGSGSSSSNSSGDALVTRISILLRDLPTLKAAVIVAFA +FTTLLIACLLLRVFRSGKRLKKTRKYDIITTPAERVEMAPLNEEDDEDEDSTVFDIKYR* +>line31236 NM_207446 c.206_211del p.S69_S70del protein-altering (position 69-70 changed from SS to ) +MRAVPLPAPLLPLLLLALLAAPAARASRAESVSAPWPEPERESRPPPGPGPGNTTRFGSGAAGGSGSSNSSGDALVTRISILLRDLPTLKAAVIVAFAFT +TLLIACLLLRVFRSGKRLKKTRKYDIITTPAERVEMAPLNEEDDEDEDSTVFDIKYR* +>line31393 NM_001009606 WILDTYPE +MAGSGGLGGGAGGGQGAGAGQGAALRASRAPMLLVALVLGAYCLCALPGRCPPAARAPAPAPAPSEPSSSVHRPGAPGLPLASGPGRRRFPQALIVGVKK +GGTRALLEFLRLHPDVRALGSEPHFFDRCYERGLAWYRSLMPRTLDGQITMEKTPSYFVTREAPRRIHAMSPDTKLIVVVRNPVTRAISDYAQTLSKTPG +LPSFRALAFRHGLGPVDTAWSAVRIGLYAQHLDHWLRYFPLSHFLFVSGERLVSDPAGEVGRVQDFLGLKRVVTDKHFYFNATKGFPCLKKAQGGSRPRC +LGKSKGRPHPRVPQALVRRLQEFYRPFNRRFYQMTGQDFGWG* +>line31393 NM_001009606 c.573_574TA p.A192T protein-altering (position 192 changed from A to T) +MAGSGGLGGGAGGGQGAGAGQGAALRASRAPMLLVALVLGAYCLCALPGRCPPAARAPAPAPAPSEPSSSVHRPGAPGLPLASGPGRRRFPQALIVGVKK +GGTRALLEFLRLHPDVRALGSEPHFFDRCYERGLAWYRSLMPRTLDGQITMEKTPSYFVTREAPRRIHAMSPDTKLIVVVRNPVTRAISDYTQTLSKTPG +LPSFRALAFRHGLGPVDTAWSAVRIGLYAQHLDHWLRYFPLSHFLFVSGERLVSDPAGEVGRVQDFLGLKRVVTDKHFYFNATKGFPCLKKAQGGSRPRC +LGKSKGRPHPRVPQALVRRLQEFYRPFNRRFYQMTGQDFGWG* +>line31682 NM_001256160 WILDTYPE +MASPDRSKRKILKAKKTMPLSCRKQVEMLNKSRNVEALKTAIGSNVPSGNQSFSPSVITRTTEITKCSPSENGASSLDSNKNSISEKSKVFSQNCIKPVE +EIVHSETKLEQVVCSYQKPSRTTESPSRVFTEEAKDSLNTSENDSEHQTNVTRSLFEHEGACSLKSSCCPPSVLSGVVQMPESTVTSTVGDKKTDQMVFH +LETNSNSESHDKRQSDNILCSEDSGFVPVEKTPNLVNSVTSNNCADDILKTDECSRTSISNCESADSTWQSSLDTNNNSHYQKKRMFSENEENVKRMKTS +EQINENICVSLERQTAFLEQVRHLIQQEIYSINYELFDKKLKELNQRIGKTECRNKHEGIADKLLAKIAKLQRRIKTVLLFQRNCLKPNMLSSNGASKVA +NSEAMILDKNLESVNSPIEKSSVNYEPSNPSEKGSKKINLSSDQNKSVSESNNDDVMLISVESPNLTTPITSNPTDTRKITSGNSSNSPNAEVMKVQYPP +WSHIRKLLQTQRKQPHWHKMQSRFLSPLSTCHLSQNHQHHYLN* +>line31682 NM_001256160 c.180_182del p.T62del protein-altering (position 62 changed from T to ) +MASPDRSKRKILKAKKTMPLSCRKQVEMLNKSRNVEALKTAIGSNVPSGNQSFSPSVITRTEITKCSPSENGASSLDSNKNSISEKSKVFSQNCIKPVEE +IVHSETKLEQVVCSYQKPSRTTESPSRVFTEEAKDSLNTSENDSEHQTNVTRSLFEHEGACSLKSSCCPPSVLSGVVQMPESTVTSTVGDKKTDQMVFHL +ETNSNSESHDKRQSDNILCSEDSGFVPVEKTPNLVNSVTSNNCADDILKTDECSRTSISNCESADSTWQSSLDTNNNSHYQKKRMFSENEENVKRMKTSE +QINENICVSLERQTAFLEQVRHLIQQEIYSINYELFDKKLKELNQRIGKTECRNKHEGIADKLLAKIAKLQRRIKTVLLFQRNCLKPNMLSSNGASKVAN +SEAMILDKNLESVNSPIEKSSVNYEPSNPSEKGSKKINLSSDQNKSVSESNNDDVMLISVESPNLTTPITSNPTDTRKITSGNSSNSPNAEVMKVQYPPW +SHIRKLLQTQRKQPHWHKMQSRFLSPLSTCHLSQNHQHHYLN* +>line31834 NM_001304499 WILDTYPE +MATVAELKAVLKDTLEKKGVLGHLKARIRAEVFNALDDDREPRPSLSHENLLINELIREYLEFNKYKYTASVLIAAHCILRLLGSSSSPASASRVPGTTE +SGQPVVPLDRQFLIHELNAFEESKDNTIPLLYGILAHFLRGTKDGIQNAFLKGPSLQPSDPSLGRQPSRRKPMDDHLRKEEQKSTNIEDLHVSQAVNR* +>line31834 NM_001304499 c.506_507insTAG p.S168_R169insS protein-altering (position 168-169 has insertion S) +MATVAELKAVLKDTLEKKGVLGHLKARIRAEVFNALDDDREPRPSLSHENLLINELIREYLEFNKYKYTASVLIAAHCILRLLGSSSSPASASRVPGTTE +SGQPVVPLDRQFLIHELNAFEESKDNTIPLLYGILAHFLRGTKDGIQNAFLKGPSLQPSDPSLGRQPSSRRKPMDDHLRKEEQKSTNIEDLHVSQAVNR* + +>line31973 NM_001330520 WILDTYPE +MRELEAKATKDVERNLSRDLVQEEEQLMEEKKKKKDDKKKKEAAQKKATEQKIKVPEQIKPSVSQPQPANSNNGTSTATSTNNNAKRATANNQQPQQQQQ +QQQPQQQQPQQQPQPQPQQQQPQQQPQALPRYPREVPPRFRHQEHKQLLKRGQHFPVIAANLGSAVKVLNSQSESSALTNQQPQNNGEVQNSKNQSDINH +STSGSHYENSQRGPVSSTSDSSTNCKNAVVSDLSEKEAWPSAPGSDPELASECMDADSASSSESERNITIMASGNTGGEKDGLRNSTGLGSQNKFVVGSS +SNNVGHGSSTGPWGFSHGAIISTCQVSVDAPESKSESSNNRMNAWGTVSSSSNGGLNPSTLNSASNHGAWPVLENNGLALKGPVGSGSSGINIQCSTIGQ +MPNNQSINSKVSGGSTHGTWGSLQETCESEVSGTQKVSFSGQPQNITTEMTGPNNTTNFMTSSLPNSGSVQNNELPSSNTGAWRVSTMNHPQMQAPSGMN +GTSLSHLSNGESKSGGSYGTTWGAYGSNYSGDKCSGPNGQANGDTVNATLMQPGVNGPMGTNFQVNTNKGGGVWESGAANSQSTSWGSGNGANSGGSRRG +WGTPAQNTGTNLPSVEWNKLPSNQHSNDSANGNGKTFTNGWKSTEEEDQGSATSQTNEQSSVWAKTGGTVESDGSTESTGRLEEKGTGESQSRDRRKIDQ +HTLLQSIVNRTDLDPRVLSNSGWGQTPIKQNTAWDTETSPRGERKTDNGTEAWGSSATQTFNSGACIDKTSPNGNDTSSVSGWGDPKPALRWGDSKGSNC +QGGWEDDSAATGMVKSNQWGNCKEEKAAWNDSQKNKQGWGDGQKSSQGWSVSASDNWGETSRNNHWGEANKKSSSGGSDSDRSVSGWNELGKTSSFTWGN +NINPNNSSGWDESSKPTPSQGWGDPPKSNQSLGWGDSSKPVSSPDWNKQQDIVGSWGIPPATGKPPGTGWLGGPIPAPAKEEEPTGWEEPSPESIRRKME +IDDGTSAWGDPSKYNYKNVNMWNKNVPNGNSRSDQQAQVHQLLTPASAISNKEASSGSGWGEPWGEPSTPATTVDNGTSAWGKPIDSGPSWGEPIAAASS +TSTWGSSSVGPQALSKSGPKSMQDGWCGDDMPLPGNRPTGWEEEEDVEIGMWNSNSSQELNSSLNWPPYTKKMSSKGLSGKKRRRERGMMKGGNKQEEAW +INPFVKQFSNISFSRDSPEENVQSNKMDLSGGMLQDKRMEIDKHSLNIGDYNRTVGKGPGSRPQISKESSMERNPYFDKNGNPSMFGVGNTAAQPRGMQQ +PPAQPLSSSQPNLRAQVPPPLLSPQVPVSLLKYAPNNGGLNPLFGPQQVAMLNQLSQLNQLSQISQLQRLLAQQQRAQSQRSVPSGNRPQQDQQGRPLSV +QQQMMQQSRQLDPNLLVKQQTPPSQQQPLHQPAMKSFLDNVMPHTTPELQKGPSPINAFSNFPIGLNSNLNVNMDMNSIKEPQSRLRKWTTVDSISVNTS +LDQNSSKHGAISSGFRLEESPFVPYDFMNSSTSPASPPGSIGDGWPRAKSPNGSSSVNWPPEFRPGEPWKGYPNIDPETDPYVTPGSVINNLSINTVREV +DHLRDRNSGSSSSLNTTLPSTSAWSSIRASNYNVPLSSTAQSTSARNSDSKLTWSPGSVTNTSLAHELWKVPLPPKNITAPSRPPPGLTGQKPPLSTWDN +SPLRIGGGWGNSDARYTPGSSWGESSSGRITNWLVLKNLTPQIDGSTLRTLCMQHGPLITFHLNLPHGNALVRYSSKEEVVKAQKSLHMCVLGNTTILAE +FASEEEISRFFAQSQSLTPSPGWQSLGSSQSRLGSLDCSHSFSSRTDLNHWNGAGLSGTNCGDLHGTSLWGTPHYSTSLWGPPSSSDPRGISSPSPINAF +LSVDHLGGGGESM* +>line31973 NM_001330520 c.333_344del p.P115_Q118del protein-altering (position 115-118 changed from PQPQ to ) +MRELEAKATKDVERNLSRDLVQEEEQLMEEKKKKKDDKKKKEAAQKKATEQKIKVPEQIKPSVSQPQPANSNNGTSTATSTNNNAKRATANNQQPQQQQQ +QQQPQQQQPQQQPQQQQPQQQPQALPRYPREVPPRFRHQEHKQLLKRGQHFPVIAANLGSAVKVLNSQSESSALTNQQPQNNGEVQNSKNQSDINHSTSG +SHYENSQRGPVSSTSDSSTNCKNAVVSDLSEKEAWPSAPGSDPELASECMDADSASSSESERNITIMASGNTGGEKDGLRNSTGLGSQNKFVVGSSSNNV +GHGSSTGPWGFSHGAIISTCQVSVDAPESKSESSNNRMNAWGTVSSSSNGGLNPSTLNSASNHGAWPVLENNGLALKGPVGSGSSGINIQCSTIGQMPNN +QSINSKVSGGSTHGTWGSLQETCESEVSGTQKVSFSGQPQNITTEMTGPNNTTNFMTSSLPNSGSVQNNELPSSNTGAWRVSTMNHPQMQAPSGMNGTSL +SHLSNGESKSGGSYGTTWGAYGSNYSGDKCSGPNGQANGDTVNATLMQPGVNGPMGTNFQVNTNKGGGVWESGAANSQSTSWGSGNGANSGGSRRGWGTP +AQNTGTNLPSVEWNKLPSNQHSNDSANGNGKTFTNGWKSTEEEDQGSATSQTNEQSSVWAKTGGTVESDGSTESTGRLEEKGTGESQSRDRRKIDQHTLL +QSIVNRTDLDPRVLSNSGWGQTPIKQNTAWDTETSPRGERKTDNGTEAWGSSATQTFNSGACIDKTSPNGNDTSSVSGWGDPKPALRWGDSKGSNCQGGW +EDDSAATGMVKSNQWGNCKEEKAAWNDSQKNKQGWGDGQKSSQGWSVSASDNWGETSRNNHWGEANKKSSSGGSDSDRSVSGWNELGKTSSFTWGNNINP +NNSSGWDESSKPTPSQGWGDPPKSNQSLGWGDSSKPVSSPDWNKQQDIVGSWGIPPATGKPPGTGWLGGPIPAPAKEEEPTGWEEPSPESIRRKMEIDDG +TSAWGDPSKYNYKNVNMWNKNVPNGNSRSDQQAQVHQLLTPASAISNKEASSGSGWGEPWGEPSTPATTVDNGTSAWGKPIDSGPSWGEPIAAASSTSTW +GSSSVGPQALSKSGPKSMQDGWCGDDMPLPGNRPTGWEEEEDVEIGMWNSNSSQELNSSLNWPPYTKKMSSKGLSGKKRRRERGMMKGGNKQEEAWINPF +VKQFSNISFSRDSPEENVQSNKMDLSGGMLQDKRMEIDKHSLNIGDYNRTVGKGPGSRPQISKESSMERNPYFDKNGNPSMFGVGNTAAQPRGMQQPPAQ +PLSSSQPNLRAQVPPPLLSPQVPVSLLKYAPNNGGLNPLFGPQQVAMLNQLSQLNQLSQISQLQRLLAQQQRAQSQRSVPSGNRPQQDQQGRPLSVQQQM +MQQSRQLDPNLLVKQQTPPSQQQPLHQPAMKSFLDNVMPHTTPELQKGPSPINAFSNFPIGLNSNLNVNMDMNSIKEPQSRLRKWTTVDSISVNTSLDQN +SSKHGAISSGFRLEESPFVPYDFMNSSTSPASPPGSIGDGWPRAKSPNGSSSVNWPPEFRPGEPWKGYPNIDPETDPYVTPGSVINNLSINTVREVDHLR +DRNSGSSSSLNTTLPSTSAWSSIRASNYNVPLSSTAQSTSARNSDSKLTWSPGSVTNTSLAHELWKVPLPPKNITAPSRPPPGLTGQKPPLSTWDNSPLR +IGGGWGNSDARYTPGSSWGESSSGRITNWLVLKNLTPQIDGSTLRTLCMQHGPLITFHLNLPHGNALVRYSSKEEVVKAQKSLHMCVLGNTTILAEFASE +EEISRFFAQSQSLTPSPGWQSLGSSQSRLGSLDCSHSFSSRTDLNHWNGAGLSGTNCGDLHGTSLWGTPHYSTSLWGPPSSSDPRGISSPSPINAFLSVD +HLGGGGESM* +>line32052 NM_016151 WILDTYPE +MPAGGRAGSLKDPDVAELFFKDDPEKLFSDLREIGHGSFGAVYFARDVRNSEVVAIKKMSYSGKQSNEKWQDIIKEVRFLQKLRHPNTIQYRGCYLREHT +AWLVMEYCLGSASDLLEVHKKPLQEVEIAAVTHGALQGLAYLHSHNMIHRDVKAGNILLSEPGLVKLGDFGSASIMAPANSFVGTPYWMAPEVILAMDEG +QYDGKVDVWSLGITCIELAERKPPLFNMNAMSALYHIAQNESPVLQSGHWSEYFRNFVDSCLQKIPQDRPTSEVLLKHRFVLRERPPTVIMDLIQRTKDA +VRELDNLQYRKMKKILFQEAPNGPGAEAPEEEEEAEPYMHRAGTLTSLESSHSVPSMSISASSQSSSVNSLADASDNEEEEEEEEEEEEEEEGPEAREMA +MMQEGEHTVTSHSSIIHRLPGSDNLYDDPYQPEITPSPLQPPAAPAPTSTTSSARRRAYCRNRDHFATIRTASLVSRQIQEHEQDSALREQLSGYKRMRR +QHQKQLLALESRLRGEREEHSARLQRELEAQRAGFGAEAEKLARRHQAIGEKEARAAQAEERKFQQHILGQQKKELAALLEAQKRTYKLRKEQLKEELQE +NPSTPKREKAEWLLRQKEQLQQCQAEEEAGLLRRQRQYFELQCRQYKRKMLLARHSLDQDLLREDLNKKQTQKDLECALLLRQHEATRELELRQLQAVQR +TRAELTRLQHQTELGNQLEYNKRREQELRQKHAAQVRQQPKSLKVRAGQRPPGLPLPIPGALGPPNTGTPIEQQPCSPGQEAVLDQRMLGEEEEAVGERR +ILGKEGATLEPKQQRILGEESGAPSPSPQKHGSLVDEEVWGLPEEIEELRVPSLVPQERSIVGQEEAGTWSLWGKEDESLLDEEFELGWVQGPALTPVPE +EEEEEEEGAPIGTPRDPGDGCPSPDIPPEPPPTHLRPCPASQLPGLLSHGLLAGLSFAVGSSSGLLPLLLLLLLPLLAAQGGGGLQAALLALEVGLVGLG +ASYLLLCTALHLPSSLFLLLAQGTALGAVLGLSWRRGLMGVPLGLGAAWLLAWPGLALPLVAMAAGGRWVRQQGPRVRRGISRLWLRVLLRLSPMAFRAL +QGCGAVGDRGLFALYPKTNKDGFRSRLPVPGPRRRNPRTTQHPLALLARVWVLCKGWNWRLARASQGLASHLPPWAIHTLASWGLLRGERPTRIPRLLPR +SQRQLGPPASRQPLPGTLAGRRSRTRQSRALPPWR* +>line32052 NM_016151 c.1138_1140del p.E392del protein-altering (position 392 changed from E to ) +MPAGGRAGSLKDPDVAELFFKDDPEKLFSDLREIGHGSFGAVYFARDVRNSEVVAIKKMSYSGKQSNEKWQDIIKEVRFLQKLRHPNTIQYRGCYLREHT +AWLVMEYCLGSASDLLEVHKKPLQEVEIAAVTHGALQGLAYLHSHNMIHRDVKAGNILLSEPGLVKLGDFGSASIMAPANSFVGTPYWMAPEVILAMDEG +QYDGKVDVWSLGITCIELAERKPPLFNMNAMSALYHIAQNESPVLQSGHWSEYFRNFVDSCLQKIPQDRPTSEVLLKHRFVLRERPPTVIMDLIQRTKDA +VRELDNLQYRKMKKILFQEAPNGPGAEAPEEEEEAEPYMHRAGTLTSLESSHSVPSMSISASSQSSSVNSLADASDNEEEEEEEEEEEEEEGPEAREMAM +MQEGEHTVTSHSSIIHRLPGSDNLYDDPYQPEITPSPLQPPAAPAPTSTTSSARRRAYCRNRDHFATIRTASLVSRQIQEHEQDSALREQLSGYKRMRRQ +HQKQLLALESRLRGEREEHSARLQRELEAQRAGFGAEAEKLARRHQAIGEKEARAAQAEERKFQQHILGQQKKELAALLEAQKRTYKLRKEQLKEELQEN +PSTPKREKAEWLLRQKEQLQQCQAEEEAGLLRRQRQYFELQCRQYKRKMLLARHSLDQDLLREDLNKKQTQKDLECALLLRQHEATRELELRQLQAVQRT +RAELTRLQHQTELGNQLEYNKRREQELRQKHAAQVRQQPKSLKVRAGQRPPGLPLPIPGALGPPNTGTPIEQQPCSPGQEAVLDQRMLGEEEEAVGERRI +LGKEGATLEPKQQRILGEESGAPSPSPQKHGSLVDEEVWGLPEEIEELRVPSLVPQERSIVGQEEAGTWSLWGKEDESLLDEEFELGWVQGPALTPVPEE +EEEEEEGAPIGTPRDPGDGCPSPDIPPEPPPTHLRPCPASQLPGLLSHGLLAGLSFAVGSSSGLLPLLLLLLLPLLAAQGGGGLQAALLALEVGLVGLGA +SYLLLCTALHLPSSLFLLLAQGTALGAVLGLSWRRGLMGVPLGLGAAWLLAWPGLALPLVAMAAGGRWVRQQGPRVRRGISRLWLRVLLRLSPMAFRALQ +GCGAVGDRGLFALYPKTNKDGFRSRLPVPGPRRRNPRTTQHPLALLARVWVLCKGWNWRLARASQGLASHLPPWAIHTLASWGLLRGERPTRIPRLLPRS +QRQLGPPASRQPLPGTLAGRRSRTRQSRALPPWR* +>line32071 NM_014712 WILDTYPE +MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDLQDPRCHVRSKNRDFSLPVPKFKLDEFYIGQIPLKEVTFAR +LNDNVRETFLKDMCRKYGEVEEVEILLHPRTRKHLGLARVLFTSTRGAKETVKNLHLTSVMGNIIHAQLDIKGQQRMKYYELIVNGSYTPQTVPTGGKAL +SEKFQGSGAATETAESRRRSSSDTAAYPAGTTAVGTPGNGTPCSQDTSFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSSSTTSTSFKPRR +SENSYQDAFSRRHFSASSASTTASTAIAATTAATASSSASSSSLSSSSSSSSSSSSSQFRSSDANYPAYYESWNRYQRHTSYPPRRATREEPPGAPFAEN +TAERFPPSYTSYLPPEPSRPTDQDYRPPASEAPPPEPPEPGGGGGGGGPSPEREEVRTSPRPASPARSGSPAPETTNESVPFAQHSSLDSRIEMLLKEQR +SKFSFLASDTEEEEENSSMVLGARDTGSEVPSGSGHGPCTPPPAPANFEDVAPTGSGEPGATRESPKANGQNQASPCSSGDDMEISDDDRGGSPPPAPTP +PQQPPPPPPPPPPPPPYLASLPLGYPPHQPAYLLPPRPDGPPPPEYPPPPPPPPHIYDFVNSLELMDRLGAQWGGMPMSFQMQTQMLTRLHQLRQGKGLI +AASAGPPGGAFGEAFLPFPPPQEAAYGLPYALYAQGQEGRGAYSREAYHLPMPMAAEPLPSSSVSGEEARLPPREEAELAEGKTLPTAGTVGRVLAMLVQ +EMKSIMQRDLNRKMVENVAFGAFDQWWESKEEKAKPFQNAAKQQAKEEDKEKTKLKEPGLLSLVDWAKSGGTTGIEAFAFGSGLRGALRLPSFKVKRKEP +SEISEASEEKRPRPSTPAEEDEDDPEQEKEAGEPGRPGTKPPKRDEERGKTQGKHRKSFALDSEGEEASQESSSEKDEEDDEEDEEDEDREEAVDTTKKE +TEVSDGEDEESDSSSKCSLYADSDGENDSTSDSESSSSSSSSSSSSSSSSSSSSSSSSESSSEDEEEEERPAALPSASPPPREVPVPTPAPVEVPVPERV +AGSPVTPLPEQEASPARPAGPTEESPPSAPLRPPEPPAGPPAPAPRPDERPSSPIPLLPPPKKRRKTVSFSAIEVVPAPEPPPATPPQAKFPGPASRKAP +RGVERTIRNLPLDHASLVKSWPEEVSRGGRSRAGGRGRLTEEEEAEPGTEVDLAVLADLALTPARRGLPALPAVEDSEATETSDEAERPRPLLSHILLEH +NYALAVKPTPPAPALRPPEPVPAPAALFSSPADEVLEAPEVVVAEAEEPKPQQLQQQREEGEEEGEEEGEEEEEESSDSSSSSDGEGALRRRSLRSHARR +RRPPPPPPPPPPRAYEPRSEFEQMTILYDIWNSGLDSEDMSYLRLTYERLLQQTSGADWLNDTHWVHHTITNLTTPKRKRRPQDGPREHQTGSARSEGYY +PISKKEKDKYLDVCPVSARQLEGVDTQGTNRVLSERRSEQRRLLSAIGTSAIMDSDLLKLNQLKFRKKKLRFGRSRIHEWGLFAMEPIAADEMVIEYVGQ +NIRQMVADMREKRYVQEGIGSSYLFRVDHDTIIDATKCGNLARFINHCCTPNCYAKVITIESQKKIVIYSKQPIGVDEEITYDYKFPLEDNKIPCLCGTE +SCRGSLN* +>line32071 NM_014712 c.4134_4136del p.S1383del protein-altering (position 1383 changed from S to ) +MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDLQDPRCHVRSKNRDFSLPVPKFKLDEFYIGQIPLKEVTFAR +LNDNVRETFLKDMCRKYGEVEEVEILLHPRTRKHLGLARVLFTSTRGAKETVKNLHLTSVMGNIIHAQLDIKGQQRMKYYELIVNGSYTPQTVPTGGKAL +SEKFQGSGAATETAESRRRSSSDTAAYPAGTTAVGTPGNGTPCSQDTSFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSSSTTSTSFKPRR +SENSYQDAFSRRHFSASSASTTASTAIAATTAATASSSASSSSLSSSSSSSSSSSSSQFRSSDANYPAYYESWNRYQRHTSYPPRRATREEPPGAPFAEN +TAERFPPSYTSYLPPEPSRPTDQDYRPPASEAPPPEPPEPGGGGGGGGPSPEREEVRTSPRPASPARSGSPAPETTNESVPFAQHSSLDSRIEMLLKEQR +SKFSFLASDTEEEEENSSMVLGARDTGSEVPSGSGHGPCTPPPAPANFEDVAPTGSGEPGATRESPKANGQNQASPCSSGDDMEISDDDRGGSPPPAPTP +PQQPPPPPPPPPPPPPYLASLPLGYPPHQPAYLLPPRPDGPPPPEYPPPPPPPPHIYDFVNSLELMDRLGAQWGGMPMSFQMQTQMLTRLHQLRQGKGLI +AASAGPPGGAFGEAFLPFPPPQEAAYGLPYALYAQGQEGRGAYSREAYHLPMPMAAEPLPSSSVSGEEARLPPREEAELAEGKTLPTAGTVGRVLAMLVQ +EMKSIMQRDLNRKMVENVAFGAFDQWWESKEEKAKPFQNAAKQQAKEEDKEKTKLKEPGLLSLVDWAKSGGTTGIEAFAFGSGLRGALRLPSFKVKRKEP +SEISEASEEKRPRPSTPAEEDEDDPEQEKEAGEPGRPGTKPPKRDEERGKTQGKHRKSFALDSEGEEASQESSSEKDEEDDEEDEEDEDREEAVDTTKKE +TEVSDGEDEESDSSSKCSLYADSDGENDSTSDSESSSSSSSSSSSSSSSSSSSSSSSSESSSEDEEEEERPAALPSASPPPREVPVPTPAPVEVPVPERV +AGSPVTPLPEQEASPARPAGPTEESPPSAPLRPPEPPAGPPAPAPRPDERPSSPIPLLPPPKKRRKTVSFSAIEVVPAPEPPPATPPQAKFPGPASRKAP +RGVERTIRNLPLDHASLVKSWPEEVSRGGRSRAGGRGRLTEEEEAEPGTEVDLAVLADLALTPARRGLPALPAVEDSEATETSDEAERPRPLLSHILLEH +NYALAVKPTPPAPALRPPEPVPAPAALFSSPADEVLEAPEVVVAEAEEPKPQQLQQQREEGEEEGEEEGEEEEEESSDSSSSDGEGALRRRSLRSHARRR +RPPPPPPPPPPRAYEPRSEFEQMTILYDIWNSGLDSEDMSYLRLTYERLLQQTSGADWLNDTHWVHHTITNLTTPKRKRRPQDGPREHQTGSARSEGYYP +ISKKEKDKYLDVCPVSARQLEGVDTQGTNRVLSERRSEQRRLLSAIGTSAIMDSDLLKLNQLKFRKKKLRFGRSRIHEWGLFAMEPIAADEMVIEYVGQN +IRQMVADMREKRYVQEGIGSSYLFRVDHDTIIDATKCGNLARFINHCCTPNCYAKVITIESQKKIVIYSKQPIGVDEEITYDYKFPLEDNKIPCLCGTES +CRGSLN* +>line32448 NM_001040284 WILDTYPE +MRPRPRSAPGKPRRRSRARLRSSRTPSGGASGGGGSSSSSSTATGGSGSSTGSPGGAASAPAPAPAGMYRSGERLLGSHALPAEQRDFLPLETTNNNNNH +HQPGAWARRAGSSASSPPSASSSPHPSAAVPAADPADSASGSSNKRKRDNKASTYGLNYSLLQPSGGRAAGGGRADGGGVVYSGTPWKRRNYNQGVVGLH +EEISDFYEYMSPRPEEEKMRMEVVNRIESVIKELWPSADVQIFGSFKTGLYLPTSDIDLVVFGKWENLPLWTLEEALRKHKVADEDSVKVLDKATVPIIK +LTDSFTEVKVDISFNVQNGVRAADLIKDFTKKYPVLPYLVLVLKQFLLQRDLNEVFTGGIGSYSLFLMAVSFLQLHPREDACIPNTNYGVLLIEFFELYG +RHFNYLKTGIRIKDGGSYVAKDEVQKNMLDGYRPSMLYIEDPLQPGNDVGRSSYGAMQVKQAFDYAYVVLSHAVSPIAKYYPNNETESILGRIIRVTDEV +ATYRDWISKQWGLKNRPEPSCNGNGVTLIVDTQQLDKCNNNLSEENEALGKCRSKTSESLSKHSSNSSSGPVSSSSATQSSSSDVDSDATPCKTPKQLLC +RPSTGNRVGSQDVSLESSQAVGKMQSTQTTNTSNSTNKSQHGSARLFRSSSKGFQGTTQTSHGSLMTNKQHQGKSNNQYYHGKKRKHKRDAPLSDLCR* +>line32448 NM_001040284 c.1715_1716insGTC p.S576_A577insS protein-altering (position 576-577 has insertion S) +MRPRPRSAPGKPRRRSRARLRSSRTPSGGASGGGGSSSSSSTATGGSGSSTGSPGGAASAPAPAPAGMYRSGERLLGSHALPAEQRDFLPLETTNNNNNH +HQPGAWARRAGSSASSPPSASSSPHPSAAVPAADPADSASGSSNKRKRDNKASTYGLNYSLLQPSGGRAAGGGRADGGGVVYSGTPWKRRNYNQGVVGLH +EEISDFYEYMSPRPEEEKMRMEVVNRIESVIKELWPSADVQIFGSFKTGLYLPTSDIDLVVFGKWENLPLWTLEEALRKHKVADEDSVKVLDKATVPIIK +LTDSFTEVKVDISFNVQNGVRAADLIKDFTKKYPVLPYLVLVLKQFLLQRDLNEVFTGGIGSYSLFLMAVSFLQLHPREDACIPNTNYGVLLIEFFELYG +RHFNYLKTGIRIKDGGSYVAKDEVQKNMLDGYRPSMLYIEDPLQPGNDVGRSSYGAMQVKQAFDYAYVVLSHAVSPIAKYYPNNETESILGRIIRVTDEV +ATYRDWISKQWGLKNRPEPSCNGNGVTLIVDTQQLDKCNNNLSEENEALGKCRSKTSESLSKHSSNSSSGPVSSSSSATQSSSSDVDSDATPCKTPKQLL +CRPSTGNRVGSQDVSLESSQAVGKMQSTQTTNTSNSTNKSQHGSARLFRSSSKGFQGTTQTSHGSLMTNKQHQGKSNNQYYHGKKRKHKRDAPLSDLCR* + +>line32519 NM_032206 WILDTYPE +MDPVGLQLGNKNLWSCLVRLLTKDPEWLNAKMKFFLPNTDLDSRNETLDPEQRVILQLNKLHVQGSDTWQSFIHCVCMQLEVPLDLEVLLLSTFGYDDGF +TSQLGAEGKSQPESQLHHGLKRPHQSCGSSPRRKQCKKQQLELAKKYLQLLRTSAQQRYRSQIPGSGQPHAFHQVYVPPILRRATASLDTPEGAIMGDVK +VEDGADVSISDLFNTRVNKGPRVTVLLGKAGMGKTTLAHRLCQKWAEGHLNCFQALFLFEFRQLNLITRFLTPSELLFDLYLSPESDHDTVFQYLEKNAD +QVLLIFDGLDEALQPMGPDGPGPVLTLFSHLCNGTLLPGCRVMATSRPGKLPACLPAEAAMVHMLGFDGPRVEEYVNHFFSAQPSREGALVELQTNGRLR +SLCAVPALCQVACLCLHHLLPDHAPGQSVALLPNMTQLYMQMVLALSPPGHLPTSSLLDLGEVALRGLETGKVIFYAKDIAPPLIAFGATHSLLTSFCVC +TGPGHQQTGYAFTHLSLQEFLAALHLMASPKVNKDTLTQYVTLHSRWVQRTKARLGLSDHLPTFLAGLASCTCRPFLSHLAQGNEDCVGAKQAAVVQVLK +KLATRKLTGPKVVELCHCVDETQEPELASLTAQSLPYQLPFHNFPLTCTDLATLTNILEHREAPIHLDFDGCPLEPHCPEALVGCGQIENLSFKSRKCGD +AFAEALSRSLPTMGRLQMLGLAGSKITARGISHLVKALPLCPQLKEVSFRDNQLSDQVVLNIVEVLPHLPRLRKLDLSSNSICVSTLLCLARVAVTCPTV +RMLQAREADLIFLLSPPTETTAELQRAPDLQESDGQRKGAQSRSLTLRLQKCQLQVHDAEALIALLQEGPHLEEVDLSGNQLEDEGCRLMAEAASQLHIA +RKLDLSNNGLSVAGVHCVLRAVSACWTLAELHISLQHKTVIFMFAQEPEEQKGPQERAAFLDSLMLQMPSELPLSSRRMRLTHCGLQEKHLEQLCKALGG +SCHLGHLHLDFSGNALGDEGAARLAQLLPGLGALQSLNLSENGLSLDAVLGLVRCFSTLQWLFRLDISFESQHILLRGDKTSRDMWATGSLPDFPAAAKF +LGFRQRCIPRSLCLSECPLEPPSLTRLCATLKDCPGPLELQLSCEFLSDQSLETLLDCLPQLPQLSLLQLSQTGLSPKSPFLLANTLSLCPRVKKVDLRS +LHHATLHFRSNEEEEGVCCGRFTGCSLSQEHVESLCWLLSKCKDLSQVDLSANLLGDSGLRCLLECLPQVPISGLLDLSHNSISQESALYLLETLPSCPR +VREASVNLGSEQSFRIHFSREDQAGKTLRLSECSFRPEHVSRLATGLSKSLQLTELTLTQCCLGQKQLAILLSLVGRPAGLFSLRVQEPWADRARVLSLL +EVCAQASGSVTEISISETQQQLCVQLEFPRQEENPEAVALRLAHCDLGAHHSLLVGQLMETCARLQQLSLSQVNLCEDDDASSLLLQSLLLSLSELKTFR +LTSSCVSTEGLAHLASGLGHCHHLEELDLSNNQFDEEGTKALMRALEGKWMLKRLDLSHLLLNSSTLALLTHRLSQMTCLQSLRLNRNSIGDVGCCHLSE +ALRAATSLEELDLSHNQIGDAGVQHLATILPGLPELRKIDLSGNSISSAGGVQLAESLVLCRRLEELMLGCNALGDPTALGLAQELPQHLRVLHLPFSHL +GPGGALSLAQALDGSPHLEEISLAENNLAGGVLRFCMELPLLRQIDLVSCKIDNQTAKLLTSSFTSCPALEVILLSWNLLGDEAAAELAQVLPQMGRLKR +VDLEKNQITALGAWLLAEGLAQGSSIQVIRLWNNPIPCDMAQHLKSQEPRLDFAFFDNQPQAPWGT* +>line32519 NM_032206 c.2718_2719CG p.N907D protein-altering (position 907 changed from N to D) +MDPVGLQLGNKNLWSCLVRLLTKDPEWLNAKMKFFLPNTDLDSRNETLDPEQRVILQLNKLHVQGSDTWQSFIHCVCMQLEVPLDLEVLLLSTFGYDDGF +TSQLGAEGKSQPESQLHHGLKRPHQSCGSSPRRKQCKKQQLELAKKYLQLLRTSAQQRYRSQIPGSGQPHAFHQVYVPPILRRATASLDTPEGAIMGDVK +VEDGADVSISDLFNTRVNKGPRVTVLLGKAGMGKTTLAHRLCQKWAEGHLNCFQALFLFEFRQLNLITRFLTPSELLFDLYLSPESDHDTVFQYLEKNAD +QVLLIFDGLDEALQPMGPDGPGPVLTLFSHLCNGTLLPGCRVMATSRPGKLPACLPAEAAMVHMLGFDGPRVEEYVNHFFSAQPSREGALVELQTNGRLR +SLCAVPALCQVACLCLHHLLPDHAPGQSVALLPNMTQLYMQMVLALSPPGHLPTSSLLDLGEVALRGLETGKVIFYAKDIAPPLIAFGATHSLLTSFCVC +TGPGHQQTGYAFTHLSLQEFLAALHLMASPKVNKDTLTQYVTLHSRWVQRTKARLGLSDHLPTFLAGLASCTCRPFLSHLAQGNEDCVGAKQAAVVQVLK +KLATRKLTGPKVVELCHCVDETQEPELASLTAQSLPYQLPFHNFPLTCTDLATLTNILEHREAPIHLDFDGCPLEPHCPEALVGCGQIENLSFKSRKCGD +AFAEALSRSLPTMGRLQMLGLAGSKITARGISHLVKALPLCPQLKEVSFRDNQLSDQVVLNIVEVLPHLPRLRKLDLSSNSICVSTLLCLARVAVTCPTV +RMLQAREADLIFLLSPPTETTAELQRAPDLQESDGQRKGAQSRSLTLRLQKCQLQVHDAEALIALLQEGPHLEEVDLSGNQLEDEGCRLMAEAASQLHIA +RKLDLSDNGLSVAGVHCVLRAVSACWTLAELHISLQHKTVIFMFAQEPEEQKGPQERAAFLDSLMLQMPSELPLSSRRMRLTHCGLQEKHLEQLCKALGG +SCHLGHLHLDFSGNALGDEGAARLAQLLPGLGALQSLNLSENGLSLDAVLGLVRCFSTLQWLFRLDISFESQHILLRGDKTSRDMWATGSLPDFPAAAKF +LGFRQRCIPRSLCLSECPLEPPSLTRLCATLKDCPGPLELQLSCEFLSDQSLETLLDCLPQLPQLSLLQLSQTGLSPKSPFLLANTLSLCPRVKKVDLRS +LHHATLHFRSNEEEEGVCCGRFTGCSLSQEHVESLCWLLSKCKDLSQVDLSANLLGDSGLRCLLECLPQVPISGLLDLSHNSISQESALYLLETLPSCPR +VREASVNLGSEQSFRIHFSREDQAGKTLRLSECSFRPEHVSRLATGLSKSLQLTELTLTQCCLGQKQLAILLSLVGRPAGLFSLRVQEPWADRARVLSLL +EVCAQASGSVTEISISETQQQLCVQLEFPRQEENPEAVALRLAHCDLGAHHSLLVGQLMETCARLQQLSLSQVNLCEDDDASSLLLQSLLLSLSELKTFR +LTSSCVSTEGLAHLASGLGHCHHLEELDLSNNQFDEEGTKALMRALEGKWMLKRLDLSHLLLNSSTLALLTHRLSQMTCLQSLRLNRNSIGDVGCCHLSE +ALRAATSLEELDLSHNQIGDAGVQHLATILPGLPELRKIDLSGNSISSAGGVQLAESLVLCRRLEELMLGCNALGDPTALGLAQELPQHLRVLHLPFSHL +GPGGALSLAQALDGSPHLEEISLAENNLAGGVLRFCMELPLLRQIDLVSCKIDNQTAKLLTSSFTSCPALEVILLSWNLLGDEAAAELAQVLPQMGRLKR +VDLEKNQITALGAWLLAEGLAQGSSIQVIRLWNNPIPCDMAQHLKSQEPRLDFAFFDNQPQAPWGT* +>line32638 NM_020850 WILDTYPE +MAAATADPGAGNPQPGDSSGGGAGGGLPSPGEQELSRRLQRLYPAVNQQETPLPRSWSPKDKYNYIGLSQGNLRVHYKGHGKNHKDAASVRATHPIPAAC +GIYYFEVKIVSKGRDGYMGIGLSAQGVNMNRLPGWDKHSYGYHGDDGHSFCSSGTGQPYGPTFTTGDVIGCCVNLINGTCFYTKNGHSLGIAFTDLPANL +YPTVGLQTPGEIVDANFGQQPFLFDIEDYMREWRAKVQGTVHCFPISARLGEWQAVLQNMVSSYLVHHGYCATATAFARMTETPIQEEQASIKNRQKIQK +LVLEGRVGEAIETTQRFYPGLLEHNPNLLFMLKCRQFVEMVNGTDSEVRSLSSRSPKSQDSYPGSPSLSPRHGPSSSHMHNTGADSPSCSNGVASTKSKQ +NHSKYPAPSSSSSSSSSSSSSSPSSVNYSESNSTDSTKSQHHSSTSNQETSDSEMEMEAEHYPNGVLGSMSTRIVNGAYKHEDLQTDESSMDDRHPRRQL +CGGNQAATERIILFGRELQALSEQLGREYGKNLAHTEMLQDAFSLLAYSDPWSCPVGQQLDPIQREPVCAALNSAILESQNLPKQPPLMLALGQASECLR +LMARAGLGSCSFARVDDYLH* +>line32638 NM_020850 c.1254_1256del p.S422del protein-altering (position 422 changed from S to ) +MAAATADPGAGNPQPGDSSGGGAGGGLPSPGEQELSRRLQRLYPAVNQQETPLPRSWSPKDKYNYIGLSQGNLRVHYKGHGKNHKDAASVRATHPIPAAC +GIYYFEVKIVSKGRDGYMGIGLSAQGVNMNRLPGWDKHSYGYHGDDGHSFCSSGTGQPYGPTFTTGDVIGCCVNLINGTCFYTKNGHSLGIAFTDLPANL +YPTVGLQTPGEIVDANFGQQPFLFDIEDYMREWRAKVQGTVHCFPISARLGEWQAVLQNMVSSYLVHHGYCATATAFARMTETPIQEEQASIKNRQKIQK +LVLEGRVGEAIETTQRFYPGLLEHNPNLLFMLKCRQFVEMVNGTDSEVRSLSSRSPKSQDSYPGSPSLSPRHGPSSSHMHNTGADSPSCSNGVASTKSKQ +NHSKYPAPSSSSSSSSSSSSSPSSVNYSESNSTDSTKSQHHSSTSNQETSDSEMEMEAEHYPNGVLGSMSTRIVNGAYKHEDLQTDESSMDDRHPRRQLC +GGNQAATERIILFGRELQALSEQLGREYGKNLAHTEMLQDAFSLLAYSDPWSCPVGQQLDPIQREPVCAALNSAILESQNLPKQPPLMLALGQASECLRL +MARAGLGSCSFARVDDYLH* +>line32641 NM_020457 WILDTYPE +MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAA +RRRQQQQQQQQQQQQQQQQQQQQQQQQQQQQQSSPSASTAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITPTGEDVKPIDLTVQVEFAAAE +GAAAAAAASELQAATAGLEAAECPMGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKD +RLLAMAVIRKKHGM* +>line32641 NM_020457 c.367_369del p.Q132del protein-altering (position 132 changed from Q to ) +MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAA +RRRQQQQQQQQQQQQQQQQQQQQQQQQQQQQSSPSASTAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITPTGEDVKPIDLTVQVEFAAAEG +AAAAAAASELQAATAGLEAAECPMGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKDR +LLAMAVIRKKHGM* +>line32642 NM_020457 WILDTYPE +MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAA +RRRQQQQQQQQQQQQQQQQQQQQQQQQQQQQQSSPSASTAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITPTGEDVKPIDLTVQVEFAAAE +GAAAAAAASELQAATAGLEAAECPMGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKD +RLLAMAVIRKKHGM* +>line32642 NM_020457 c.372_373insCAGCAGCAGCAGCAGCAGCAA p.Q132_S133insQQQQQQQ protein-altering (position 132-133 has insertion QQQQQQQ) +MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAA +RRRQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQSSPSASTAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITPTGEDVKPIDLTVQ +VEFAAAEGAAAAAAASELQAATAGLEAAECPMGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLR +EELREKDRLLAMAVIRKKHGM* +>line32671 NM_001113178 WILDTYPE +MPSDFISLLSADLDLESPKSLYSRDSLKLHPSQNFHRAGLLEESVYDLLPKELQLPPSRETSVASMSQTSGGEAGSPPPAVVAADASSAPSSSSMGGACS +SFTTSSSPTIYSTSVTDSKAMQVESCSSAVGVSNRGVSEKQLTSNTVQQHPSTPKRHTVLYISPPPEDLLDNSRMSCQDEGCGLESEQSCSMWMEDSPSN +FSNMSTSSYNDNTEVPRKSRKRNPKQRPGVKRRDCEESNMDIFDADSAKAPHYVLSQLTTDNKGNSKAGNGTLENQKGTGVKKSPMLCGQYPVKSEGKEL +KIVVQPETQHRARYLTEGSRGSVKDRTQQGFPTVKLEGHNEPVVLQVFVGNDSGRVKPHGFYQACRVTGRNTTPCKEVDIEGTTVIEVGLDPSNNMTLAV +DCVGILKLRNADVEARIGIAGSKKKSTRARLVFRVNIMRKDGSTLTLQTPSSPILCTQPAGVPEILKKSLHSCSVKGEEEVFLIGKNFLKGTKVIFQENV +SDENSWKSEAEIDMELFHQNHLIVKVPPYHDQHITLPVSVGIYVVTNAGRSHDVQPFTYTPDPAAGALNVNVKKEISSPARPCSFEEAMKAMKTTGCNLD +KVNIIPNALMTPLIPSSMIKSEDVTPMEVTAEKRSSTIFKTTKSVGSTQQTLENISNIAGNGSFSSPSSSHLPSENEKQQQIQPKAYNPETLTTIQTQDI +SQPGTFPAVSASSQLPNSDALLQQATQFQTRETQSREILQSDGTVVNLSQLTEASQQQQQSPLQEQAQTLQQQISSNIFPSPNSVSQLQNTIQQLQAGSF +TGSTASGSSGSVDLVQQVLEAQQQLSSVLFSAPDGNENVQEQLSADIFQQVSQIQSGVSPGMFSSTEPTVHTRPDNLLPGRAESVHPQSENTLSNQQQQQ +QQQQQVMESSAAMVMEMQQSICQAAAQIQSELFPSTASANGNLQQSPVYQQTSHMMSALSTNEDMQMQCELFSSPPAVSGNETSTTTTQQVATPGTTMFQ +TSSSGDGEETGTQAKQIQNSVFQTMVQMQHSGDNQPQVNLFSSTKSMMSVQNSGTQQQGNGLFQQGNEMMSLQSGNFLQQSSHSQAQLFHPQNPIADAQN +LSQETQGSLFHSPNPIVHSQTSTTSSEQMQPPMFHSQSTIAVLQGSSVPQDQQSTNIFLSQSPMNNLQTNTVAQEAFFAAPNSISPLQSTSNSEQQAAFQ +QQAPISHIQTPMLSQEQAQPPQQGLFQPQVALGSLPPNPMPQSQQGTMFQSQHSIVAMQSNSPSQEQQQQQQQQQQQQQQQQQSILFSNQNTMATMASPK +QPPPNMIFNPNQNPMANQEQQNQSIFHQQSNMAPMNQEQQPMQFQSQSTVSSLQNPGPTQSESSQTPLFHSSPQIQLVQGSPSSQEQQVTLFLSPASMSA +LQTSINQQDMQQSPLYSPQNNMPGIQGATSSPQPQATLFHNTAGGTMNQLQNSPGSSQQTSGMFLFGIQNNCSQLLTSGPATLPDQLMAISQPGQPQNEG +QPPVTTLLSQQMPENSPLASSINTNQNIEKIDLLVSLQNQGNNLTGSF* +>line32671 NM_001113178 c.3799_3801del p.Q1283del protein-altering (position 1283 changed from Q to ) +MPSDFISLLSADLDLESPKSLYSRDSLKLHPSQNFHRAGLLEESVYDLLPKELQLPPSRETSVASMSQTSGGEAGSPPPAVVAADASSAPSSSSMGGACS +SFTTSSSPTIYSTSVTDSKAMQVESCSSAVGVSNRGVSEKQLTSNTVQQHPSTPKRHTVLYISPPPEDLLDNSRMSCQDEGCGLESEQSCSMWMEDSPSN +FSNMSTSSYNDNTEVPRKSRKRNPKQRPGVKRRDCEESNMDIFDADSAKAPHYVLSQLTTDNKGNSKAGNGTLENQKGTGVKKSPMLCGQYPVKSEGKEL +KIVVQPETQHRARYLTEGSRGSVKDRTQQGFPTVKLEGHNEPVVLQVFVGNDSGRVKPHGFYQACRVTGRNTTPCKEVDIEGTTVIEVGLDPSNNMTLAV +DCVGILKLRNADVEARIGIAGSKKKSTRARLVFRVNIMRKDGSTLTLQTPSSPILCTQPAGVPEILKKSLHSCSVKGEEEVFLIGKNFLKGTKVIFQENV +SDENSWKSEAEIDMELFHQNHLIVKVPPYHDQHITLPVSVGIYVVTNAGRSHDVQPFTYTPDPAAGALNVNVKKEISSPARPCSFEEAMKAMKTTGCNLD +KVNIIPNALMTPLIPSSMIKSEDVTPMEVTAEKRSSTIFKTTKSVGSTQQTLENISNIAGNGSFSSPSSSHLPSENEKQQQIQPKAYNPETLTTIQTQDI +SQPGTFPAVSASSQLPNSDALLQQATQFQTRETQSREILQSDGTVVNLSQLTEASQQQQQSPLQEQAQTLQQQISSNIFPSPNSVSQLQNTIQQLQAGSF +TGSTASGSSGSVDLVQQVLEAQQQLSSVLFSAPDGNENVQEQLSADIFQQVSQIQSGVSPGMFSSTEPTVHTRPDNLLPGRAESVHPQSENTLSNQQQQQ +QQQQQVMESSAAMVMEMQQSICQAAAQIQSELFPSTASANGNLQQSPVYQQTSHMMSALSTNEDMQMQCELFSSPPAVSGNETSTTTTQQVATPGTTMFQ +TSSSGDGEETGTQAKQIQNSVFQTMVQMQHSGDNQPQVNLFSSTKSMMSVQNSGTQQQGNGLFQQGNEMMSLQSGNFLQQSSHSQAQLFHPQNPIADAQN +LSQETQGSLFHSPNPIVHSQTSTTSSEQMQPPMFHSQSTIAVLQGSSVPQDQQSTNIFLSQSPMNNLQTNTVAQEAFFAAPNSISPLQSTSNSEQQAAFQ +QQAPISHIQTPMLSQEQAQPPQQGLFQPQVALGSLPPNPMPQSQQGTMFQSQHSIVAMQSNSPSQEQQQQQQQQQQQQQQQQSILFSNQNTMATMASPKQ +PPPNMIFNPNQNPMANQEQQNQSIFHQQSNMAPMNQEQQPMQFQSQSTVSSLQNPGPTQSESSQTPLFHSSPQIQLVQGSPSSQEQQVTLFLSPASMSAL +QTSINQQDMQQSPLYSPQNNMPGIQGATSSPQPQATLFHNTAGGTMNQLQNSPGSSQQTSGMFLFGIQNNCSQLLTSGPATLPDQLMAISQPGQPQNEGQ +PPVTTLLSQQMPENSPLASSINTNQNIEKIDLLVSLQNQGNNLTGSF* +>line32714 NM_001270977 WILDTYPE +MLGSGFKAERLRVNLRLVINRLKLLEKKKTELAQKARKEIADYLAAGKDERARIRVEHIIREDYLVEAMEILELYCDLLLARFGLIQSMKELDSGLAESV +STLIWAAPRLQSEVAELKIVADQLCAKYSKEYGKLCRTNQIGTVNDRLMHKLSVEAPPKILVERYLIEIAKNYNVPYEPDSVVMAEAPPGVETDLIDVGF +TDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPMPSANTPFSYPLPKGPVDDINADKNISSAQIVGPGPKPEASAKLPSRPADNYDNFVLPELPSV +PDTLPTASAGASTSASEDIDFDDLSRRFEELKKKT* +>line32714 NM_001270977 c.688_693del p.M238_P239del protein-altering (position 238-239 changed from MP to ) +MLGSGFKAERLRVNLRLVINRLKLLEKKKTELAQKARKEIADYLAAGKDERARIRVEHIIREDYLVEAMEILELYCDLLLARFGLIQSMKELDSGLAESV +STLIWAAPRLQSEVAELKIVADQLCAKYSKEYGKLCRTNQIGTVNDRLMHKLSVEAPPKILVERYLIEIAKNYNVPYEPDSVVMAEAPPGVETDLIDVGF +TDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPSANTPFSYPLPKGPVDDINADKNISSAQIVGPGPKPEASAKLPSRPADNYDNFVLPELPSVPD +TLPTASAGASTSASEDIDFDDLSRRFEELKKKT* +>line32725 NM_031293 WILDTYPE +MKDEAGERDREVSSLNSKLLSLQLDIKNLHDVCKRQRKTLQDNQLCMEEAMNSSHDKKQAQALAFEESEVEFGSSKQCHLRQLQQLKKKLLVLQQELEFH +TEELQTSYYSLRQYQSILEKQTSDLVLLHHHCKLKEDEVILYEEEMGNHNENTGEKLHLAQEQLALAGDKIASLERSLNLYRDKYQSSLSNIELLECQVK +MLQGELGGIMGQEPENKGDHSKVRIYTSPCMIQEHQETQKRLSEVWQKVSQQDDLIQELRNKLACSNALVLEREKALIKLQADFASCTATHRYPPSSSEE +CEDIKKILKHLQEQKDSQCLHVEEYQNLVKDLRVELEAVSEQKRNIMKDMMKLELDLHGLREETSAHIERKDKDITILQCRLQELQLEFTETQKLTLKKD +KFLQEKDEMLQELEKKLTQVQNSLLKKEKELEKQQCMATELEMTVKEAKQDKSKEAECKALQAEVQKLKNSLEEAKQQERLAAQQAAQCKEEAALAGCHL +EDTQRKLQKGLLLDKQKADTIQELQRELQMLQKESSMAEKEQTSNRKRVEELSLELSEALRKLENSDKEKRQLQKTVAEQDMKMNDMLDRIKHQHREQGS +IKCKLEEDLQEATKLLEDKREQLKKSKEHEKLMEGELEALRQEFKKKDKTLKENSRKLEEENENLRAELQCCSTQLESSLNKYNTSQQVIQDLNKEIALQ +KESLMSLQAQLDKALQKEKHYLQTTITKEAYDALSRKSAACQDDLTQALEKLNHVTSETKSLQQSLTQTQEKKAQLEEEIIAYEERMKKLNTELRKLRGF +HQESELEVHAFDKKLEEMSCQVLQWQKQHQNDLKMLAAKEEQLREFQEEMAALKENLLEDDKEPCCLPQWSVPKDTCRLYRGNDQIMTNLEQWAKQQKVA +NEKLGNQLREQVKYIAKLSGEKDHLHSVMVHLQQENKKLKKEIEEKKMKAENTRLCTKALGPSRTESTQREKVCGTLGWKGLPQDMGQRMDLTKYIGMPH +CPGSSYC* +>line32725 NM_031293 c.917delA p.K306Rfs*2 protein-altering (position 306-1007 changed from KILKHLQEQKDSQCLHVEEYQNLVKDLRVELEAVSEQKRNIMKDMMKLELDLHGLREETSAHIERKDKDITILQCRLQELQLEFTETQKLTLKKDKFLQEKDEMLQELEKKLTQVQNSLLKKEKELEKQQCMATELEMTVKEAKQDKSKEAECKALQAEVQKLKNSLEEAKQQERLAAQQAAQCKEEAALAGCHLEDTQRKLQKGLLLDKQKADTIQELQRELQMLQKESSMAEKEQTSNRKRVEELSLELSEALRKLENSDKEKRQLQKTVAEQDMKMNDMLDRIKHQHREQGSIKCKLEEDLQEATKLLEDKREQLKKSKEHEKLMEGELEALRQEFKKKDKTLKENSRKLEEENENLRAELQCCSTQLESSLNKYNTSQQVIQDLNKEIALQKESLMSLQAQLDKALQKEKHYLQTTITKEAYDALSRKSAACQDDLTQALEKLNHVTSETKSLQQSLTQTQEKKAQLEEEIIAYEERMKKLNTELRKLRGFHQESELEVHAFDKKLEEMSCQVLQWQKQHQNDLKMLAAKEEQLREFQEEMAALKENLLEDDKEPCCLPQWSVPKDTCRLYRGNDQIMTNLEQWAKQQKVANEKLGNQLREQVKYIAKLSGEKDHLHSVMVHLQQENKKLKKEIEEKKMKAENTRLCTKALGPSRTESTQREKVCGTLGWKGLPQDMGQRMDLTKYIGMPHCPGSSYC to RY) +MKDEAGERDREVSSLNSKLLSLQLDIKNLHDVCKRQRKTLQDNQLCMEEAMNSSHDKKQAQALAFEESEVEFGSSKQCHLRQLQQLKKKLLVLQQELEFH +TEELQTSYYSLRQYQSILEKQTSDLVLLHHHCKLKEDEVILYEEEMGNHNENTGEKLHLAQEQLALAGDKIASLERSLNLYRDKYQSSLSNIELLECQVK +MLQGELGGIMGQEPENKGDHSKVRIYTSPCMIQEHQETQKRLSEVWQKVSQQDDLIQELRNKLACSNALVLEREKALIKLQADFASCTATHRYPPSSSEE +CEDIKRY* +>line32877 NM_001076780 WILDTYPE +MSAVGLVLLVLALRLRATTVKPEEGSFCSNSQVAFRDACYEFVPLGRTFRDAQSWCEGQGGHLVFIQDEGTQWFLQKHISQDREWWIGLTWNLARNGTTE +GPGTWLDTSNVTYSNWHGGQAAAAPDTCGHIGRGPSSEWVTSDCAQTFAFMCEFRVGQSLACEGLNATVHCGLGQVIQVQDAVYGRQNPHFCTQDAGRPS +DLEQGCSWANVKEEVAGQCQELQSCQVAADETYFGNLCPTQGSYLWVQYQCREALQLMVSSESFIFDNVTISLTWLLSPYIGNLSCIISTGDSHTFDPYN +PPSVSSNVTHQFTSPGEFTVFAECTTSEWHVTAQRQVTVRDKMETLSVTACSGLSQSGAGPLCQAVFGDPLWIQVELDGGTGVTYTVLLGDITLAESTTQ +KGSLPYNLILDRETQKLMGPGRHRLEIQATGNTTTSTISRNITVHLVELLSGLQASWASDHLELGQDLLITISLAQGTPEELTFEVAGLNATFSHEQVSF +GEPFGICRLAVPVEGTFLVTMLVRNAFSNLSLEIGNITITAPSGLQEPSGMNAEGKSKDKGDMEVYIQPGPYVDPFTTVTLGWPDNDKELRFQWSCGSCW +ALWSSCVERQLLRTDQRELVVPASCLPPPDSAVTLRLAVLRGQELENRAEQCLYVSAPWELRPRVSCERNCRPVNASKDILLRVTMGEDSPVAMFSWYLD +NTPTEQAEPLLDACRLRGFWPRSLTLLQSNTSTLLLNSSFLQSRGEVIRIRATALTRHAYGEDTYVISTVPPREVPACTIAPEEGTVLTSFAIFCNASTA +LGPLEFCFCLESGSCLHCGPEPALPSVYLPLGEENNDFVLTVVISATNRAGDTQQTQAMAKVALGDTCVEDVAFQAAVSEKIPTALQGEGGPEQLLQLAK +AVSSMLNQEHESQGSGQSLSIDVRQKVREHVLGSLSAVTTGLEDVQRVQELAEVLREVTCRSKELTPSAQGSCMGDSWEGAPPAAHVSHAR* +>line32877 NM_001076780 c.706_707del p.N236Pfs*25 protein-altering (position 236-991 changed from NLCPTQGSYLWVQYQCREALQLMVSSESFIFDNVTISLTWLLSPYIGNLSCIISTGDSHTFDPYNPPSVSSNVTHQFTSPGEFTVFAECTTSEWHVTAQRQVTVRDKMETLSVTACSGLSQSGAGPLCQAVFGDPLWIQVELDGGTGVTYTVLLGDITLAESTTQKGSLPYNLILDRETQKLMGPGRHRLEIQATGNTTTSTISRNITVHLVELLSGLQASWASDHLELGQDLLITISLAQGTPEELTFEVAGLNATFSHEQVSFGEPFGICRLAVPVEGTFLVTMLVRNAFSNLSLEIGNITITAPSGLQEPSGMNAEGKSKDKGDMEVYIQPGPYVDPFTTVTLGWPDNDKELRFQWSCGSCWALWSSCVERQLLRTDQRELVVPASCLPPPDSAVTLRLAVLRGQELENRAEQCLYVSAPWELRPRVSCERNCRPVNASKDILLRVTMGEDSPVAMFSWYLDNTPTEQAEPLLDACRLRGFWPRSLTLLQSNTSTLLLNSSFLQSRGEVIRIRATALTRHAYGEDTYVISTVPPREVPACTIAPEEGTVLTSFAIFCNASTALGPLEFCFCLESGSCLHCGPEPALPSVYLPLGEENNDFVLTVVISATNRAGDTQQTQAMAKVALGDTCVEDVAFQAAVSEKIPTALQGEGGPEQLLQLAKAVSSMLNQEHESQGSGQSLSIDVRQKVREHVLGSLSAVTTGLEDVQRVQELAEVLREVTCRSKELTPSAQGSCMGDSWEGAPPAAHVSHAR to PVSDSGQLPVGAVPVPGSPAADGVQ) +MSAVGLVLLVLALRLRATTVKPEEGSFCSNSQVAFRDACYEFVPLGRTFRDAQSWCEGQGGHLVFIQDEGTQWFLQKHISQDREWWIGLTWNLARNGTTE +GPGTWLDTSNVTYSNWHGGQAAAAPDTCGHIGRGPSSEWVTSDCAQTFAFMCEFRVGQSLACEGLNATVHCGLGQVIQVQDAVYGRQNPHFCTQDAGRPS +DLEQGCSWANVKEEVAGQCQELQSCQVAADETYFGPVSDSGQLPVGAVPVPGSPAADGVQ* +>line33037 NM_001201407 WILDTYPE +MAAPDLAHGGHVSRDSVCLHEEQTQAAGMVAGWLINCYQDAVTFDDVAVDFTQEEWTLLDPSQRDLYRDVMLENYENLASVGHHLFQPSVIYWLEQEEEL +RAGRRAVLQEWRLKTKGPALRQDRSWFRASNETQTARSHNGGQLCDRTQCGEAFSEHSGLSTHVRTQNTGDSCVSNHYERDFFIPCQKTLFKIGEQFSVL +GQCGKAFSSTPNVVSQQACTRDRSLDYSSCGEVFLNQSYLQARAGSHNGEETWKWKPCGKALTHSMGCATPVEMHAVRNPHVCRECGKAFRYTAYLTGRV +QVHPGEKPCELEECGKASPVSSSLTQHVRIHAAEKPCECKECGKAFTGLSGLSKHVQTDPGQKPYECKDCGKACGGFYLLNEHGKTHTREKPFACVVCGK +YFRNSSCLNNHVRIHTGIKPYTCSYCGKAFTVRCGLTRHVRTHTGEKPYTCKDCGKAFCTSSGLTEHVRTHTGEKPYECKDCGKSFTVSSSLTEHARIHT +GEKPYECKQCGKAFTGRSGLTKHMRTHTGEKPYECKDCGKAYNRVYLLNEHVKTHTEEKPFICTVCRKSFRNSSCLNKHIQIHTGIKPYECKDCGKTFTV +SSSLTEHIRTHTGEKPYECKVCGKAFTTSSHLIVHIRTHTGEKPYICKECGKAFASSSHLIEHRRTHTGEKPYICNECGKAFRASSHLHKHGRIHTGQKP +YKCKECGKAYNRFYLLKEHLKTYTEEQVFVCKDCGKSFKNSSCLNHHTQIHTDEKPF* +>line33037 NM_001201407 c.328_329insGTGA p.E110Gfs*5 protein-altering (position 110-757 changed from EWRLKTKGPALRQDRSWFRASNETQTARSHNGGQLCDRTQCGEAFSEHSGLSTHVRTQNTGDSCVSNHYERDFFIPCQKTLFKIGEQFSVLGQCGKAFSSTPNVVSQQACTRDRSLDYSSCGEVFLNQSYLQARAGSHNGEETWKWKPCGKALTHSMGCATPVEMHAVRNPHVCRECGKAFRYTAYLTGRVQVHPGEKPCELEECGKASPVSSSLTQHVRIHAAEKPCECKECGKAFTGLSGLSKHVQTDPGQKPYECKDCGKACGGFYLLNEHGKTHTREKPFACVVCGKYFRNSSCLNNHVRIHTGIKPYTCSYCGKAFTVRCGLTRHVRTHTGEKPYTCKDCGKAFCTSSGLTEHVRTHTGEKPYECKDCGKSFTVSSSLTEHARIHTGEKPYECKQCGKAFTGRSGLTKHMRTHTGEKPYECKDCGKAYNRVYLLNEHVKTHTEEKPFICTVCRKSFRNSSCLNKHIQIHTGIKPYECKDCGKTFTVSSSLTEHIRTHTGEKPYECKVCGKAFTTSSHLIVHIRTHTGEKPYICKECGKAFASSSHLIEHRRTHTGEKPYICNECGKAFRASSHLHKHGRIHTGQKPYKCKECGKAYNRFYLLKEHLKTYTEEQVFVCKDCGKSFKNSSCLNHHTQIHTDEKPF to GEMAT) +MAAPDLAHGGHVSRDSVCLHEEQTQAAGMVAGWLINCYQDAVTFDDVAVDFTQEEWTLLDPSQRDLYRDVMLENYENLASVGHHLFQPSVIYWLEQEEEL +RAGRRAVLQGEMAT* +>line33166 NM_003553 WILDTYPE +MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPMYLFLSNLSFSDLCFSSVTIPKLLQNMQNQDPSIPYADCLTQ +MYFFLLFGDLESFLLVAMAYDRYVAICFPLHYTAIMSPMLCLALVALSWVLTTFHAMLHTLLMARLCFCADNVIPHFFCDMSALLKLAFSDTRVNEWVIF +IMGGLILVIPFLLILGSYARIVSSILKVPSSKGICKAFSTCGSHLSVVSLFYGTVIGLYLCSSANSSTLKDTVMAMMYTVVTPMLNPFIYSLRNRDMKGA +LSRVIHQKKTFFSL* +>line33166 NM_003553 c.389_399del p.L130Rfs*45 protein-altering (position 130-313 changed from LHYTAIMSPMLCLALVALSWVLTTFHAMLHTLLMARLCFCADNVIPHFFCDMSALLKLAFSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSSKGICKAFSTCGSHLSVVSLFYGTVIGLYLCSSANSSTLKDTVMAMMYTVVTPMLNPFIYSLRNRDMKGALSRVIHQKKTFFS to RHHEPHALSRPGGAVLGADHLPCHVTHFTHGQVVFLCRQCDPPLF) +MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPMYLFLSNLSFSDLCFSSVTIPKLLQNMQNQDPSIPYADCLTQ +MYFFLLFGDLESFLLVAMAYDRYVAICFPRHHEPHALSRPGGAVLGADHLPCHVTHFTHGQVVFLCRQCDPPLFL* +>line33292 NM_181844 WILDTYPE +MGSPAAPEGALGYVREFTRHSSDVLGNLNELRLRGILTDVTLLVGGQPLRAHKAVLIACSGFFYSIFRGRAGVGVDVLSLPGGPEARGFAPLLDFMYTSR +LRLSPATAPAVLAAATYLQMEHVVQACHRFIQASYEPLGISLRPLEAEPPTPPTAPPPGSPRRSEGHPDPPTESRSCSQGPPSPASPDPKACNWKKYKYI +VLNSQASQAGSLVGERSSGQPCPQARLPSGDEASSSSSSSSSSSEEGPIPGPQSRLSPTAATVQFKCGAPASTPYLLTSQAQDTSGSPSERARPLPGSEF +FSCQNCEAVAGCSSGLDSLVPGDEDKPYKCQLCRSSFRYKGNLASHRTVHTGEKPYHCSICGARFNRPANLKTHSRIHSGEKPYKCETCGSRFVQVAHLR +AHVLIHTGEKPYPCPTCGTRFRHLQTLKSHVRIHTGEKPYHCDPCGLHFRHKSQLRLHLRQKHGAATNTKVHYHILGGP* +>line33292 NM_181844 c.701_702insCAG p.S244_E245insS protein-altering (position 244-245 has insertion S) +MGSPAAPEGALGYVREFTRHSSDVLGNLNELRLRGILTDVTLLVGGQPLRAHKAVLIACSGFFYSIFRGRAGVGVDVLSLPGGPEARGFAPLLDFMYTSR +LRLSPATAPAVLAAATYLQMEHVVQACHRFIQASYEPLGISLRPLEAEPPTPPTAPPPGSPRRSEGHPDPPTESRSCSQGPPSPASPDPKACNWKKYKYI +VLNSQASQAGSLVGERSSGQPCPQARLPSGDEASSSSSSSSSSSSEEGPIPGPQSRLSPTAATVQFKCGAPASTPYLLTSQAQDTSGSPSERARPLPGSE +FFSCQNCEAVAGCSSGLDSLVPGDEDKPYKCQLCRSSFRYKGNLASHRTVHTGEKPYHCSICGARFNRPANLKTHSRIHSGEKPYKCETCGSRFVQVAHL +RAHVLIHTGEKPYPCPTCGTRFRHLQTLKSHVRIHTGEKPYHCDPCGLHFRHKSQLRLHLRQKHGAATNTKVHYHILGGP* +>line33309 NM_001102614 WILDTYPE +MAGSHPYLNPPDSTHPSPPSAPPSLRWHQCCQPSDATNGLLVALLGGGLPAGFVGPLSHMAYQASNLPSLELLICRCLFHLPIALLLKLRGDPLLGPPDI +RGRAYFYALLNVLSIGCAYSAVQVVPAGNAATVRKGSSTVCSAVLTLCLESQGLSGYDWCGLLGSILGLIIIVGPGLWTLQEGITGVYTALGYGQAFVGG +LALSLGLLVYRSLHFPSCLPTVAFLSGLVGLLGSVPGLFVLQPPVLPSDLPSWSCVGAVGILALVSFTCVSYAVTKAHPALVCAVLHSEVVVALILQYYM +LHETVAPSDIVGAGVVLGSIAIITAWNLSCEREGKVEE* +>line33309 NM_001102614 c.976_977CA p.W326Q protein-altering (position 326 changed from W to Q) +MAGSHPYLNPPDSTHPSPPSAPPSLRWHQCCQPSDATNGLLVALLGGGLPAGFVGPLSHMAYQASNLPSLELLICRCLFHLPIALLLKLRGDPLLGPPDI +RGRAYFYALLNVLSIGCAYSAVQVVPAGNAATVRKGSSTVCSAVLTLCLESQGLSGYDWCGLLGSILGLIIIVGPGLWTLQEGITGVYTALGYGQAFVGG +LALSLGLLVYRSLHFPSCLPTVAFLSGLVGLLGSVPGLFVLQPPVLPSDLPSWSCVGAVGILALVSFTCVSYAVTKAHPALVCAVLHSEVVVALILQYYM +LHETVAPSDIVGAGVVLGSIAIITAQNLSCEREGKVEE* +>line33661 NM_021012 WILDTYPE +MTAASRANPYSIVSSEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIEFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGI +IFWVIAVAHGDLEPAEGRGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECPVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNA +VVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILE +GMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRS +RDGLSPQARHDFDRLQAGGGVLEQRPYRRESEI* +>line33661 NM_021012 c.297_298TG p.I100V protein-altering (position 100 changed from I to V) +MTAASRANPYSIVSSEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIEFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGV +IFWVIAVAHGDLEPAEGRGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECPVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNA +VVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILE +GMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRS +RDGLSPQARHDFDRLQAGGGVLEQRPYRRESEI* +>line33665 NM_021012 WILDTYPE +MTAASRANPYSIVSSEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIEFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGI +IFWVIAVAHGDLEPAEGRGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECPVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNA +VVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILE +GMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRS +RDGLSPQARHDFDRLQAGGGVLEQRPYRRESEI* +>line33665 NM_021012 c.353_354AC p.R118H protein-altering (position 118 changed from R to H) +MTAASRANPYSIVSSEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIEFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGI +IFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECPVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNA +VVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILE +GMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRS +RDGLSPQARHDFDRLQAGGGVLEQRPYRRESEI* +>line33670 NM_021012 WILDTYPE +MTAASRANPYSIVSSEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIEFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGI +IFWVIAVAHGDLEPAEGRGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECPVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNA +VVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILE +GMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRS +RDGLSPQARHDFDRLQAGGGVLEQRPYRRESEI* +>line33670 NM_021012 c.997_999del p.E334del protein-altering (position 334 changed from E to ) +MTAASRANPYSIVSSEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIEFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGI +IFWVIAVAHGDLEPAEGRGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECPVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNA +VVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILE +GMVEATAMTTQARSSYLANEILWGHRFEPVLFEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSR +DGLSPQARHDFDRLQAGGGVLEQRPYRRESEI* +>line33789 NM_015077 WILDTYPE +MVLTLLLSAYKLCRFFAMSGPRRGAERLAVPGPDGGGGTGPWWAAGGPGPESVAGGRHRGAGRPGARAAGAAAGLVRAEAGGRRAGRGRRPGRGLPTGGG +GLAAAAVGREVAQGLCDAIRLDGGLDLLLRLLQAPELETRVQAARLLEQILVAENRDRVARIGLGVILNLAKEREPVELARSGSGILEHMFKHSEETCQR +LVAAGGLDAVLYWCRRTDPALLRHCALALGNCALHGGQAVQRRMVEKRAAEWLFPLAFSKEDELLSLHACLAVAVLATNKEVEREVERSGTLALVEPLVA +SLDPGRFARCLVDASDTSQGRGPDDLQRLVPLLDSNRLEAQCIGAFYLCAEAAIKSLQGKTKVFSDIGAIQSLKRLVSYSTNGTKSALAKRALRLLGEEV +PRPILPSVPSWKEAEVQTWLQQIGFSKYCESFREQQVDGDLLLRLTEEELQTDLGMKSGITRKRFFRELTELKTFANYSTCDRSNLADWLGSLDPRFRQY +TYGLVSCGLDRSLLHRVSEQQLLEDCGIHLGVHRARILTAAREMLHSPLPCTGGKPSGDTPDVFISYRRNSGSQLASLLKVHLQLHGFSVFIDVEKLEAG +KFEDKLIQSVMGARNFVLVLSPGALDKCMQDHDCKDWVHKEIVTALSCGKNIVPIIDGFEWPEPQVLPEDMQAVLTFNGIKWSHEYQEATIEKIIRFLQG +RSSRDSSAGSDTSLEGAAPMGPT* +>line33789 NM_015077 c.544_545insGC p.G183Vfs*63 protein-altering (position 183-723 changed from GSGILEHMFKHSEETCQRLVAAGGLDAVLYWCRRTDPALLRHCALALGNCALHGGQAVQRRMVEKRAAEWLFPLAFSKEDELLSLHACLAVAVLATNKEVEREVERSGTLALVEPLVASLDPGRFARCLVDASDTSQGRGPDDLQRLVPLLDSNRLEAQCIGAFYLCAEAAIKSLQGKTKVFSDIGAIQSLKRLVSYSTNGTKSALAKRALRLLGEEVPRPILPSVPSWKEAEVQTWLQQIGFSKYCESFREQQVDGDLLLRLTEEELQTDLGMKSGITRKRFFRELTELKTFANYSTCDRSNLADWLGSLDPRFRQYTYGLVSCGLDRSLLHRVSEQQLLEDCGIHLGVHRARILTAAREMLHSPLPCTGGKPSGDTPDVFISYRRNSGSQLASLLKVHLQLHGFSVFIDVEKLEAGKFEDKLIQSVMGARNFVLVLSPGALDKCMQDHDCKDWVHKEIVTALSCGKNIVPIIDGFEWPEPQVLPEDMQAVLTFNGIKWSHEYQEATIEKIIRFLQGRSSRDSSAGSDTSLEGAAPMGPT to VGQASWSTCSSIRRRHARGWWRPAAWTRCCIGAAARTPRCCATARWRWATARCTGARRCSDAW) +MVLTLLLSAYKLCRFFAMSGPRRGAERLAVPGPDGGGGTGPWWAAGGPGPESVAGGRHRGAGRPGARAAGAAAGLVRAEAGGRRAGRGRRPGRGLPTGGG +GLAAAAVGREVAQGLCDAIRLDGGLDLLLRLLQAPELETRVQAARLLEQILVAENRDRVARIGLGVILNLAKEREPVELARSVGQASWSTCSSIRRRHAR +GWWRPAAWTRCCIGAAARTPRCCATARWRWATARCTGARRCSDAW* +>line33790 NM_015077 WILDTYPE +MVLTLLLSAYKLCRFFAMSGPRRGAERLAVPGPDGGGGTGPWWAAGGPGPESVAGGRHRGAGRPGARAAGAAAGLVRAEAGGRRAGRGRRPGRGLPTGGG +GLAAAAVGREVAQGLCDAIRLDGGLDLLLRLLQAPELETRVQAARLLEQILVAENRDRVARIGLGVILNLAKEREPVELARSGSGILEHMFKHSEETCQR +LVAAGGLDAVLYWCRRTDPALLRHCALALGNCALHGGQAVQRRMVEKRAAEWLFPLAFSKEDELLSLHACLAVAVLATNKEVEREVERSGTLALVEPLVA +SLDPGRFARCLVDASDTSQGRGPDDLQRLVPLLDSNRLEAQCIGAFYLCAEAAIKSLQGKTKVFSDIGAIQSLKRLVSYSTNGTKSALAKRALRLLGEEV +PRPILPSVPSWKEAEVQTWLQQIGFSKYCESFREQQVDGDLLLRLTEEELQTDLGMKSGITRKRFFRELTELKTFANYSTCDRSNLADWLGSLDPRFRQY +TYGLVSCGLDRSLLHRVSEQQLLEDCGIHLGVHRARILTAAREMLHSPLPCTGGKPSGDTPDVFISYRRNSGSQLASLLKVHLQLHGFSVFIDVEKLEAG +KFEDKLIQSVMGARNFVLVLSPGALDKCMQDHDCKDWVHKEIVTALSCGKNIVPIIDGFEWPEPQVLPEDMQAVLTFNGIKWSHEYQEATIEKIIRFLQG +RSSRDSSAGSDTSLEGAAPMGPT* +>line33790 NM_015077 c.549_550del p.S184Rfs*94 protein-altering (position 184-723 changed from SGILEHMFKHSEETCQRLVAAGGLDAVLYWCRRTDPALLRHCALALGNCALHGGQAVQRRMVEKRAAEWLFPLAFSKEDELLSLHACLAVAVLATNKEVEREVERSGTLALVEPLVASLDPGRFARCLVDASDTSQGRGPDDLQRLVPLLDSNRLEAQCIGAFYLCAEAAIKSLQGKTKVFSDIGAIQSLKRLVSYSTNGTKSALAKRALRLLGEEVPRPILPSVPSWKEAEVQTWLQQIGFSKYCESFREQQVDGDLLLRLTEEELQTDLGMKSGITRKRFFRELTELKTFANYSTCDRSNLADWLGSLDPRFRQYTYGLVSCGLDRSLLHRVSEQQLLEDCGIHLGVHRARILTAAREMLHSPLPCTGGKPSGDTPDVFISYRRNSGSQLASLLKVHLQLHGFSVFIDVEKLEAGKFEDKLIQSVMGARNFVLVLSPGALDKCMQDHDCKDWVHKEIVTALSCGKNIVPIIDGFEWPEPQVLPEDMQAVLTFNGIKWSHEYQEATIEKIIRFLQGRSSRDSSAGSDTSLEGAAPMGPT to RHLGAHVQAFGGDMPEAGGGRRPGRGAVLVPPHGPRAAAPLRAGAGQLRAARGPGGAATHGREARSRVALPARLLQGGRAAFAARLPRSSGVGD) +MVLTLLLSAYKLCRFFAMSGPRRGAERLAVPGPDGGGGTGPWWAAGGPGPESVAGGRHRGAGRPGARAAGAAAGLVRAEAGGRRAGRGRRPGRGLPTGGG +GLAAAAVGREVAQGLCDAIRLDGGLDLLLRLLQAPELETRVQAARLLEQILVAENRDRVARIGLGVILNLAKEREPVELARSGRHLGAHVQAFGGDMPEA +GGGRRPGRGAVLVPPHGPRAAAPLRAGAGQLRAARGPGGAATHGREARSRVALPARLLQGGRAAFAARLPRSSGVGD* +>line33912 NM_139285 WILDTYPE +MSQPAGGRRKPRTLGPPVCSIRPFKSSEQYLEAMKEDLAEWLRDLYGLDIDAANFLQVLETGLVLCQHANVVTDAALAFLAEAPAQAQKIPMPRVGVSCN +GAAQPGTFQARDNVSNFIQWCRKEMGIQEVLMFETEDLVLRKNVKNVVLCLLELGRRAWRFGVAAPTLVQLEEEIEEEVRRELALPPPDPSPPAPPRRQP +CHFRNLDQMVQSLVSHCTCPVQFSMVKVSEGKYRVGDSNTLIFIRILRNHVMVRVGGGWDTLGHYLDKHDPCRCTSLSHKPGSFLKPPAPPVQHEVRVQD +GPSQTQPTMTISRSQSPPPPVDWKTYTSSDRRLRPPTPSSPRPRRERGAGTGASREMAPFLRCQERSLIPSWRQPTAGDSPPSPQSSSTQKGRDPQCTSS +GKREERYPPELPRGRIPTSWVHEETDSWGTDAGNPTPQRLRAIEATTKGISARGPSPLPRSFGPAECLGLRLPLRDEAKGAFFQFREPESVRSPTPVQGL +TKIPIRLPPARPPTPGRSFPGATSGSPRTELGRDPIPLRAVTVDLAGSTHGDCSVEVRQEDQQLDIQVMAEARESWDLGLQEQEGRYTPLPLGGNKEQAI +YCSLEEEILGNMKLLEVRSACPQGTRSGVIPRSGVYIPRLAGQWPEPGGPYDKAIQELAQGSPSLLKVDLEAWKAAPTGSPKPAVTPGPGSLKGKLGARQ +SGPRTKASLSAKGTHMRKVPPQGGQDCSASTVSASPEAPTPSPLDPNSDKAKACLSKGRRTLRKPKRVPSIYKLKLRPRIRPRRDHRPEKQPSRIPRPLA +YVFLGPARQPPKDRLLRAVLGSKGGEASRVDGASVGEEEEEGKEEKEPAAPLESSPQPPEGLQPHWLNQAPLPPEEESWV* +>line33912 NM_139285 c.2520_2522del p.E841del protein-altering (position 841 changed from E to ) +MSQPAGGRRKPRTLGPPVCSIRPFKSSEQYLEAMKEDLAEWLRDLYGLDIDAANFLQVLETGLVLCQHANVVTDAALAFLAEAPAQAQKIPMPRVGVSCN +GAAQPGTFQARDNVSNFIQWCRKEMGIQEVLMFETEDLVLRKNVKNVVLCLLELGRRAWRFGVAAPTLVQLEEEIEEEVRRELALPPPDPSPPAPPRRQP +CHFRNLDQMVQSLVSHCTCPVQFSMVKVSEGKYRVGDSNTLIFIRILRNHVMVRVGGGWDTLGHYLDKHDPCRCTSLSHKPGSFLKPPAPPVQHEVRVQD +GPSQTQPTMTISRSQSPPPPVDWKTYTSSDRRLRPPTPSSPRPRRERGAGTGASREMAPFLRCQERSLIPSWRQPTAGDSPPSPQSSSTQKGRDPQCTSS +GKREERYPPELPRGRIPTSWVHEETDSWGTDAGNPTPQRLRAIEATTKGISARGPSPLPRSFGPAECLGLRLPLRDEAKGAFFQFREPESVRSPTPVQGL +TKIPIRLPPARPPTPGRSFPGATSGSPRTELGRDPIPLRAVTVDLAGSTHGDCSVEVRQEDQQLDIQVMAEARESWDLGLQEQEGRYTPLPLGGNKEQAI +YCSLEEEILGNMKLLEVRSACPQGTRSGVIPRSGVYIPRLAGQWPEPGGPYDKAIQELAQGSPSLLKVDLEAWKAAPTGSPKPAVTPGPGSLKGKLGARQ +SGPRTKASLSAKGTHMRKVPPQGGQDCSASTVSASPEAPTPSPLDPNSDKAKACLSKGRRTLRKPKRVPSIYKLKLRPRIRPRRDHRPEKQPSRIPRPLA +YVFLGPARQPPKDRLLRAVLGSKGGEASRVDGASVGEEEEGKEEKEPAAPLESSPQPPEGLQPHWLNQAPLPPEEESWV* +>line33966 NM_004774 WILDTYPE +MKAQGETEESEKLSKMSSLLERLHAKFNQNRPWSETIKLVRQVMEKRVVMSSGGHQHLVSCLETLQKALKVTSLPAMTDRLESIARQNGLGSHLSASGTE +CYITSDMFYVEVQLDPAGQLCDVKVAHHGENPVSCPELVQQLREKNFDEFSKHLKGLVNLYNLPGDNKLKTKMYLALQSLEQDLSKMAIMYWKATNAGPL +DKILHGSVGYLTPRSGGHLMNLKYYVSPSDLLDDKTASPIILHENNVSRSLGMNASVTIEGTSAVYKLPIAPLIMGSHPVDNKWTPSFSSITSANSVDLP +ACFFLKFPQPIPVSRAFVQKLQNCTGIPLFETQPTYAPLYELITQFELSKDPDPIPLNHNMRFYAALPGQQHCYFLNKDAPLPDGRSLQGTLVSKITFQH +PGRVPLILNLIRHQVAYNTLIGSCVKRTILKEDSPGLLQFEVCPLSESRFSVSFQHPVNDSLVCVVMDVQDSTHVSCKLYKGLSDALICTDDFIAKVVQR +CMSIPVTMRAIRRKAETIQADTPALSLIAETVEDMVKKNLPPASSPGYGMTTGNNPMSGTTTPTNTFPGGPITTLFNMSMSIKDRHESVGHGEDFSKVSQ +NPILTSLLQITGNGGSTIGSSPTPPHHTPPPVSSMAGNTKNHPMLMNLLKDNPAQDFSTLYGSSPLERQNSSSGSPRMEICSGSNKTKKKKSSRLPPEKP +KHQTEDDFQRELFSMDVDSQNPIFDVNMTADTLDTPHITPAPSQCSTPPTTYPQPVPHPQPSIQRMVRLSSSDSIGPDVTDILSDIAEEASKLPSTSDDC +PAIGTPLRDSSSSGHSQSTLFDSDVFQTNNNENPYTDPADLIADAAGSPSSDSPTNHFFHDGVDFNPDLLNSQSQSGFGEEYFDESSQSGDNDDFKGFAS +QALNTLGVPMLGGDNGETKFKGNNQADTVDFSIISVAGKALAPADLMEHHSGSQGPLLTTGDLGKEKTQKRVKEGNGTSNSTLSGPGLDSKPGKRSRTPS +NDGKSKDKPPKRKKADTEGKSPSHSSSNRPFTPPTSTGGSKSPGSAGRSQTPPGVATPPIPKITIQIPKGTVMVGKPSSHSQYTSSGSVSSSGSKSHHSH +SSSSSSSASTSGKMKSSKSEGSSSSKLSSSMYSSQGSSGSSQSKNSSQSGGKPGSSPITKHGLSSGSSSTKMKPQGKPSSLMNPSLSKPNISPSHSRPPG +GSDKLASPMKPVPGTPPSSKAKSPISSGSGGSHMSGTSSSSGMKSSSGLGSSGSLSQKTPPSSNSCTASSSSFSSSGSSMSSSQNQHGSSKGKSPSRNKK +PSLTAVIDKLKHGVVTSGPGGEDPLDGQMGVSTNSSSHPMSSKHNMSGGEFQGKREKSDKDKSKVSTSGSSVDSSKKTSESKNVGSTGVAKIIISKHDGG +SPSIKAKVTLQKPGESSGEGLRPQMASSKNYGSPLISGSTPKHERGSPSHSKSPAYTPQNLDSESESGSSIAEKSYQNSPSSDDGIRPLPEYSTEKHKKH +KKEKKKVKDKDRDRDRDKDRDKKKSHSIKPESWSKSPISSDQSLSMTSNTILSADRPSRLSPDFMIGEEDDDLMDVALIGN* +>line33966 NM_004774 c.4375delC p.Q1459Rfs*12 protein-altering (position 1459-1581 changed from QNLDSESESGSSIAEKSYQNSPSSDDGIRPLPEYSTEKHKKHKKEKKKVKDKDRDRDRDKDRDKKKSHSIKPESWSKSPISSDQSLSMTSNTILSADRPSRLSPDFMIGEEDDDLMDVALIGN to RIWTVKVSQAPP) +MKAQGETEESEKLSKMSSLLERLHAKFNQNRPWSETIKLVRQVMEKRVVMSSGGHQHLVSCLETLQKALKVTSLPAMTDRLESIARQNGLGSHLSASGTE +CYITSDMFYVEVQLDPAGQLCDVKVAHHGENPVSCPELVQQLREKNFDEFSKHLKGLVNLYNLPGDNKLKTKMYLALQSLEQDLSKMAIMYWKATNAGPL +DKILHGSVGYLTPRSGGHLMNLKYYVSPSDLLDDKTASPIILHENNVSRSLGMNASVTIEGTSAVYKLPIAPLIMGSHPVDNKWTPSFSSITSANSVDLP +ACFFLKFPQPIPVSRAFVQKLQNCTGIPLFETQPTYAPLYELITQFELSKDPDPIPLNHNMRFYAALPGQQHCYFLNKDAPLPDGRSLQGTLVSKITFQH +PGRVPLILNLIRHQVAYNTLIGSCVKRTILKEDSPGLLQFEVCPLSESRFSVSFQHPVNDSLVCVVMDVQDSTHVSCKLYKGLSDALICTDDFIAKVVQR +CMSIPVTMRAIRRKAETIQADTPALSLIAETVEDMVKKNLPPASSPGYGMTTGNNPMSGTTTPTNTFPGGPITTLFNMSMSIKDRHESVGHGEDFSKVSQ +NPILTSLLQITGNGGSTIGSSPTPPHHTPPPVSSMAGNTKNHPMLMNLLKDNPAQDFSTLYGSSPLERQNSSSGSPRMEICSGSNKTKKKKSSRLPPEKP +KHQTEDDFQRELFSMDVDSQNPIFDVNMTADTLDTPHITPAPSQCSTPPTTYPQPVPHPQPSIQRMVRLSSSDSIGPDVTDILSDIAEEASKLPSTSDDC +PAIGTPLRDSSSSGHSQSTLFDSDVFQTNNNENPYTDPADLIADAAGSPSSDSPTNHFFHDGVDFNPDLLNSQSQSGFGEEYFDESSQSGDNDDFKGFAS +QALNTLGVPMLGGDNGETKFKGNNQADTVDFSIISVAGKALAPADLMEHHSGSQGPLLTTGDLGKEKTQKRVKEGNGTSNSTLSGPGLDSKPGKRSRTPS +NDGKSKDKPPKRKKADTEGKSPSHSSSNRPFTPPTSTGGSKSPGSAGRSQTPPGVATPPIPKITIQIPKGTVMVGKPSSHSQYTSSGSVSSSGSKSHHSH +SSSSSSSASTSGKMKSSKSEGSSSSKLSSSMYSSQGSSGSSQSKNSSQSGGKPGSSPITKHGLSSGSSSTKMKPQGKPSSLMNPSLSKPNISPSHSRPPG +GSDKLASPMKPVPGTPPSSKAKSPISSGSGGSHMSGTSSSSGMKSSSGLGSSGSLSQKTPPSSNSCTASSSSFSSSGSSMSSSQNQHGSSKGKSPSRNKK +PSLTAVIDKLKHGVVTSGPGGEDPLDGQMGVSTNSSSHPMSSKHNMSGGEFQGKREKSDKDKSKVSTSGSSVDSSKKTSESKNVGSTGVAKIIISKHDGG +SPSIKAKVTLQKPGESSGEGLRPQMASSKNYGSPLISGSTPKHERGSPSHSKSPAYTPRIWTVKVSQAPP* +>line34000 NM_001195386 WILDTYPE +MVGILPLCCSGCVPSLCCSSYVPSVAPTAAHSVRVPHSAGHCGQRVLACSLPQVFLKPWIFVEHFSSWLSLELFSFLRYLGTLLCACGHRLREGLLLPCL +LGVGSWLLFNNWTGGSWFSLHLQQVSLSQGSHVAAFLPEAIGPGVPVPVSGESTSAQQSHAGWQLSAEADACPSVLYSEVLEWNKNINTYTSFHDFCLIL +GIFLFCFVLAVIGLPYIKPGLSLSVALLWQSLILLSSLVQQDSQVHTWGCLFSTFTST* +>line34000 NM_001195386 c.284_285GA p.L95R protein-altering (position 95 changed from L to R) +MVGILPLCCSGCVPSLCCSSYVPSVAPTAAHSVRVPHSAGHCGQRVLACSLPQVFLKPWIFVEHFSSWLSLELFSFLRYLGTLLCACGHRLREGRLLPCL +LGVGSWLLFNNWTGGSWFSLHLQQVSLSQGSHVAAFLPEAIGPGVPVPVSGESTSAQQSHAGWQLSAEADACPSVLYSEVLEWNKNINTYTSFHDFCLIL +GIFLFCFVLAVIGLPYIKPGLSLSVALLWQSLILLSSLVQQDSQVHTWGCLFSTFTST* +>line34007 NM_030967 WILDTYPE +MACCQTSFCGFPSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQTSFCGFPSFSTGGTCDSSCCQPSCCETSCCQPSCYQTSSCGTGCGIGGG +IGYGQEGSSGAVSTRIRWCRPDCRVEGTCLPPCCVVSCTPPSCCQLHHAEASCCRPSYCGQSCCRPVCCCYCSEPTC* +>line34007 NM_030967 c.213_227del p.Q72_C76del protein-altering (position 72-76 changed from QPSCC to ) +MACCQTSFCGFPSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQTSFCGFPSFSTGGTCDSSCCETSCCQPSCYQTSSCGTGCGIGGGIGYGQ +EGSSGAVSTRIRWCRPDCRVEGTCLPPCCVVSCTPPSCCQLHHAEASCCRPSYCGQSCCRPVCCCYCSEPTC* +>line34167 NM_005374 WILDTYPE +MPVAATNSETAMQQVLDNLGSLPSATGAAELDLIFLRGIMESPIVRSLAKAHERLEETKLEAVRDNNLELVQEILRDLAHVAEQSSTAAELAHILQEPHF +QSLLETHDSVASKTYETPPPSPGLDPTFSNQPVPPDAVRMVGIRKTAGEHLGVTFRVEGGELVIARILHGGMVAQQGLLHVGDIIKEVNGQPVGSDPRAL +QELLRNASGSVILKILPSYQEPHLPRQVFVKCHFDYDPARDSLIPCKEAGLRFNAGDLLQIVNQDDANWWQACHVEGGSAGLIPSQLLEEKRKAFVKRDL +ELTPNSGTLCGSLSGKKKKRMMYLTTKNAEFDRHELLIYEEVARMPPFRRKTLVLIGAQGVGRRSLKNKLIMWDPDRYGTTVPYTSRRPKDSEREGQGYS +FVSRGEMEADVRAGRYLEHGEYEGNLYGTRIDSIRGVVAAGKVCVLDVNPQAVKVLRTAEFVPYVVFIEAPDFETLRAMNRAALESGISTKQLTEADLRR +TVEESSRIQRGYGHYFDLCLVNSNLERTFRELQTAMEKLRTEPQWVPVSWVY* +>line34167 NM_005374 c.240_241GC p.H80_V81delinsQL protein-altering (position 80-81 changed from HV to QL) +MPVAATNSETAMQQVLDNLGSLPSATGAAELDLIFLRGIMESPIVRSLAKAHERLEETKLEAVRDNNLELVQEILRDLAQLAEQSSTAAELAHILQEPHF +QSLLETHDSVASKTYETPPPSPGLDPTFSNQPVPPDAVRMVGIRKTAGEHLGVTFRVEGGELVIARILHGGMVAQQGLLHVGDIIKEVNGQPVGSDPRAL +QELLRNASGSVILKILPSYQEPHLPRQVFVKCHFDYDPARDSLIPCKEAGLRFNAGDLLQIVNQDDANWWQACHVEGGSAGLIPSQLLEEKRKAFVKRDL +ELTPNSGTLCGSLSGKKKKRMMYLTTKNAEFDRHELLIYEEVARMPPFRRKTLVLIGAQGVGRRSLKNKLIMWDPDRYGTTVPYTSRRPKDSEREGQGYS +FVSRGEMEADVRAGRYLEHGEYEGNLYGTRIDSIRGVVAAGKVCVLDVNPQAVKVLRTAEFVPYVVFIEAPDFETLRAMNRAALESGISTKQLTEADLRR +TVEESSRIQRGYGHYFDLCLVNSNLERTFRELQTAMEKLRTEPQWVPVSWVY* +>line34694 NM_001321291 WILDTYPE +MPIVDKLKEALKPGRKDSADDGELGKLLASSAKKVLLQKIEFEPASKSFSYQLEALKSKYVLLNPKTEGASRHKSGDDPPARRQGSEHTYESCGDGVPAP +QKVLFPTERLSLRWERVFRVGAGLHNLGNTCFLNATIQCLTYTPPLANYLLSKEHARSCHQGSFCMLCVMQNHIVQAFANSGNAIKPVSFIRDLKKIARH +FRFGNQEDAHEFLRYTIDAMQKACLNGCAKLDRQTQATTLVHQIFGGYLRSRVKCSVCKSVSDTYDPYLDVALEIRQAANIVRALELFVKADVLSGENAY +MCAKCKKKVPASKRFTIHRTSNVLTLSLKRFANFSGGKITKDVGYPEFLNIRPYMSQNNGDPVMYGLYAVLVHSGYSCHAGHYYCYVKASNGQWYQMNDS +LVHSSNVKVVLNQQAYVLFYLRIPGSKKSPEGLISRTGSSSLPGRPSVIPDHSKKNIGNGIISSPLTGKRQDSGTMKKPHTTEEIGVPISRNGSTLGLKS +QNGCIPPKLPSGSPSPKLSQTPTHMPTILDDPGKKVKKPAPPQHFSPRTAQGLPGTSNSNSSRSGSQRQGSWDSRDVVLSTSPKLLATATANGHGLKGND +ESAGLDRRGSSSSSPEHSASSDSTKAPQTPRSGAAHLCDSQETNCSTAGHSKTPPSGADSKTVKLKSPVLSNTTTEPASTMSPPPAKKLALSAKKASTLW +RATGNDLRPPPPSPSSDLTHPMKTSHPVVASTWPVHRARAVSPAPQSSSRLQPPFSPHPTLLSSTPKPPGTSEPRSCSSISTALPQVNEDLVSLPHQLPE +ASEPPQSPSEKRKKTFVGEPQRLGSETRLPQHIREATAAPHGKRKRKKKKRPEDTAASALQEGQTQRQPGSPMYRREGQAQLPAVRRQEDGTQPQVNGQQ +VGCVTDGHHASSRKRRRKGAEGLGEEGGLHQDPLRHSCSPMGDGDPEAMEESPRKKKKKKRKQETQRAVEEDGHLKCPRSAKPQDAVVPESSSCAPSANG +WCPGDRMGLSQAPPVSWNGERESDVVQELLKYSSDKAYGRKVLTWDGKMSAVSQDAIEDSRQARTETVVDDWDEEFDRGKEKKIKKFKREKRRNFNAFQK +LQTRRNFWSVTHPAKAASLSYRR* +>line34694 NM_001321291 c.2874_2879del p.K959_K960del protein-altering (position 959-960 changed from KK to ) +MPIVDKLKEALKPGRKDSADDGELGKLLASSAKKVLLQKIEFEPASKSFSYQLEALKSKYVLLNPKTEGASRHKSGDDPPARRQGSEHTYESCGDGVPAP +QKVLFPTERLSLRWERVFRVGAGLHNLGNTCFLNATIQCLTYTPPLANYLLSKEHARSCHQGSFCMLCVMQNHIVQAFANSGNAIKPVSFIRDLKKIARH +FRFGNQEDAHEFLRYTIDAMQKACLNGCAKLDRQTQATTLVHQIFGGYLRSRVKCSVCKSVSDTYDPYLDVALEIRQAANIVRALELFVKADVLSGENAY +MCAKCKKKVPASKRFTIHRTSNVLTLSLKRFANFSGGKITKDVGYPEFLNIRPYMSQNNGDPVMYGLYAVLVHSGYSCHAGHYYCYVKASNGQWYQMNDS +LVHSSNVKVVLNQQAYVLFYLRIPGSKKSPEGLISRTGSSSLPGRPSVIPDHSKKNIGNGIISSPLTGKRQDSGTMKKPHTTEEIGVPISRNGSTLGLKS +QNGCIPPKLPSGSPSPKLSQTPTHMPTILDDPGKKVKKPAPPQHFSPRTAQGLPGTSNSNSSRSGSQRQGSWDSRDVVLSTSPKLLATATANGHGLKGND +ESAGLDRRGSSSSSPEHSASSDSTKAPQTPRSGAAHLCDSQETNCSTAGHSKTPPSGADSKTVKLKSPVLSNTTTEPASTMSPPPAKKLALSAKKASTLW +RATGNDLRPPPPSPSSDLTHPMKTSHPVVASTWPVHRARAVSPAPQSSSRLQPPFSPHPTLLSSTPKPPGTSEPRSCSSISTALPQVNEDLVSLPHQLPE +ASEPPQSPSEKRKKTFVGEPQRLGSETRLPQHIREATAAPHGKRKRKKKKRPEDTAASALQEGQTQRQPGSPMYRREGQAQLPAVRRQEDGTQPQVNGQQ +VGCVTDGHHASSRKRRRKGAEGLGEEGGLHQDPLRHSCSPMGDGDPEAMEESPRKKKKRKQETQRAVEEDGHLKCPRSAKPQDAVVPESSSCAPSANGWC +PGDRMGLSQAPPVSWNGERESDVVQELLKYSSDKAYGRKVLTWDGKMSAVSQDAIEDSRQARTETVVDDWDEEFDRGKEKKIKKFKREKRRNFNAFQKLQ +TRRNFWSVTHPAKAASLSYRR* +>line34888 NM_170695 WILDTYPE +MVLAQSRVSAGVGSPHCSGSGGGGSDSFPWPASHPGNPQCSFSTAFLASPRLSRGTLAYLPPAPWSSLATPSALLGSSCAPPPPPARCPQPRALSPELGT +KAGPRRPHRWELPRSPSQGAQGPAPRRRLLETMKGIVAASGSETEDEDSMDIPLDLSSSAGSGKRRRRGNLPKESVQILRDWLYEHRYNAYPSEQEKALL +SQQTHLSTLQVCNWFINARRRLLPDMLRKDGKDPNQFTISRRGAKISETSSVESVMGIKNFMPALEETPFHSCTAGPNPTLGRPLSPKPSSPGSVLARPS +VICHTTVTALKDVPFSLCQSVGVGQNTDIQQIAAKNFTDTSLMYPEDTCKSGPSTNTQSGLFNTPPPTPPDLNQDFSGFQLLVDVALKRAAEMELQAKLT +A* +>line34888 NM_170695 c.246delT p.P83Lfs*50 protein-altering (position 83-401 changed from PPPARCPQPRALSPELGTKAGPRRPHRWELPRSPSQGAQGPAPRRRLLETMKGIVAASGSETEDEDSMDIPLDLSSSAGSGKRRRRGNLPKESVQILRDWLYEHRYNAYPSEQEKALLSQQTHLSTLQVCNWFINARRRLLPDMLRKDGKDPNQFTISRRGAKISETSSVESVMGIKNFMPALEETPFHSCTAGPNPTLGRPLSPKPSSPGSVLARPSVICHTTVTALKDVPFSLCQSVGVGQNTDIQQIAAKNFTDTSLMYPEDTCKSGPSTNTQSGLFNTPPPTPPDLNQDFSGFQLLVDVALKRAAEMELQAKLTA to LHRRAAHSRVPSPRSWGPRLGPAGRIGGNFRGPHPRAHRVQLLGADSWKQ) +MVLAQSRVSAGVGSPHCSGSGGGGSDSFPWPASHPGNPQCSFSTAFLASPRLSRGTLAYLPPAPWSSLATPSALLGSSCAPPLHRRAAHSRVPSPRSWGP +RLGPAGRIGGNFRGPHPRAHRVQLLGADSWKQ* +>line35038 NM_001282300 WILDTYPE +MAGSHPYFNLPDSTHPSPPSTPPSLHWHQRCQPSDATNGLLVALLGGGLPAGFVGPLSRMAYQASNLPSLELVICRCLFHLPIALLLKLRGDPLLGPPDI +RGRTCFCALLNVLNIGCAYSAVQVVPTGNAATVRKHSSTVCSAILTLCLESQVLSGYDWCGLLGSILGLIIIVGPGLWTLQEGTTGVYTGLGYVQAFLGG +LALSLGLLVYRSLHFPSCLPTVAFLSGLVGLLGSVPGLFVLQSPVLPSDLLSWSCVGAVGILTLVSFTCVGYAVTKAHPALVCAVLHSEVVMALILQYFM +LHETVAPSDIMGAGVVLGSIAIITARNLICERTGKVEE* +>line35038 NM_001282300 c.309_310GG p.T104A protein-altering (position 104 changed from T to A) +MAGSHPYFNLPDSTHPSPPSTPPSLHWHQRCQPSDATNGLLVALLGGGLPAGFVGPLSRMAYQASNLPSLELVICRCLFHLPIALLLKLRGDPLLGPPDI +RGRACFCALLNVLNIGCAYSAVQVVPTGNAATVRKHSSTVCSAILTLCLESQVLSGYDWCGLLGSILGLIIIVGPGLWTLQEGTTGVYTGLGYVQAFLGG +LALSLGLLVYRSLHFPSCLPTVAFLSGLVGLLGSVPGLFVLQSPVLPSDLLSWSCVGAVGILTLVSFTCVGYAVTKAHPALVCAVLHSEVVMALILQYFM +LHETVAPSDIMGAGVVLGSIAIITARNLICERTGKVEE* +>line35252 NM_001142966 WILDTYPE +MGNSYAGQLKSARFEEALHNSIEASLRCSSVVPRPIFSQLYLDPDQHPFSSADVKPKVEDLDKDLVNRYTQNGSLDFSNNLTVNEMEDDEDDEEMSDSNS +PPIPYSQKPAPEGSCTTDGFCQAGKDLRLVSLCMEQIDIPAGFLLVGAKSPNLPEHILVCAVDKRFLPDDHGKNALLGFSGNCIGCGERGFRYFTEFSNH +INLKLTTQPKKQKHLKYYLVRSSQGVLSKGPLICWKECRSRQSSASCHSIKPSSSVSSTVTPENGTTNGYKSGFTQTDAANGNSSHGGKGSASSSTPAHT +GNYSLSPRPSYASGDQATMFISGPPKKRHRGWYPGSPLPQPGLVVPVPTVRPLSRTEPLLSAPVPQTPLTGILQPRPIPAGETVIVPENLLSNSGVRPVI +LIGYGTLPYFYGNVGDIVVSPLLVNCYKIPQLENKDLEKLGLTGSQFLSVENMILLTIQYLVRLGPDQVPLREEFEQIMLKAMQEFTLRERALQIGAQCV +PVSPGQLPWLARLIASVSQDLVHVVVTQNSLAEGISETLRTLSEMRHYQRLPDYVVVICASKIRGNEFCVVVLGQHQSRALAESMLTTSEFLKEISYELI +TGKVSFLASHFKTTSLGDDLDKLLEKMQQRRGDSVVTPFDGDLNECVSPQEAAAMIPTQNLDLDNETFHIYQPQLTVARKLLSQVCAIADSGSQSLDLGH +FSKVDFIIIVPRSEVLVQQTLQRIRQSGVLVDLGLEENGTAHQRAEKYVVRLDNEIQTKFEVFMRRVKQNPYTLFVLVHDNSHVELTSVISGSLSHSEPS +HGLADRVINCREVLEAFNLLVLQVSSFPYTLQTQQSRISSSNEVHWIQLDTGEDVGCEEKLYFGLSEYSKSLQWGITSPLLRCDETFEKMVNTLLERYPR +LHSMVVRCYLLIQQYSEALMALTTMASLRDHSTPETLSIMDDLISSPGKNKSGRGHMLIIRVPSVQLAMLAKERLQEVRDKLGLQYRFEIILGNPATELS +VATHFVARLKSWRGNEPEEWIPRTYQDLDGLPCIVILTGKDPLGETFPRSLKYCDLRLIDSSYLTRTALEQEVGLACCYVSKEVIRGPTVALDLSGKEQE +RAAVSENDSDELLIDLERPQSNSSAVTGTSGSIMENGVSSSSTADKSQKQSLTPSFQSPATSLGLDEGVSASSAGAGAGETLKQECDSLGPQMASSTTSK +PSSSSSGPRTLPWPGQPIRGCRGPQAALPPVVILSKAAYSLLGSQKSGKLPSSSSLLPHADVAWVSSLRPLLNKDMSSEEQSLYYRQWTLARQHHADYSN +QLDPASGTRNFHPRRLLLTGPPQVGKTGSYLQFLRILFRMLIRLLEVDVYDEEEINTDHNESSEVSQSEGEPWPDIESFSKMPFDVSVHDPKYSLMSLVY +TEKLAGVKQEVIKESKVEEPRKRETVSIMLTKYAAYNTFHHCEQCRQYMDFTSASQMSDSTLHAFTFSSSMLGEEVQLYFIIPKSKESHFVFSKQGKHLE +SMRLPLVSDKNLNAVKSPIFTPSSGRHEHGLLNLFHAMEGISHLHLLVVKEYEMPLYRKYWPNHIMLVLPGMFNNAGVGAARFLIKELSYHNLELERNRL +EELGIKRQCVWPFIVMMDDSCVLWNIHSVQEPSSQPMEVGVSSKNVSLKTVLQHIEATPKIVHYAILGIQKWSSKLTSQSLKAPFSRCHVHDFILLNTDL +TQNVQYDFNRYFCEDADFNLRTNSSGLLICRFNNFSLMKKHVQVGGQRDFIIKPKIMVSESLAPILPLQYICAPDSEHTLLAAPAQFLLEKFLQHASYKL +FPKAIHNFRSPVLAIDCYLNIGPEVAICYISSRPHSSNVNCEGVFFSGLLLYLCDSFVGADLKKFKFLKGATLCVICQDRSSLRQTIVRLELEDEWQFRL +RDEFQTANSSDDKPLYFLTGRHV* +>line35252 NM_001142966 c.5582_5583insTCT p.L1862_K1863insL protein-altering (position 1862-1863 has insertion L) +MGNSYAGQLKSARFEEALHNSIEASLRCSSVVPRPIFSQLYLDPDQHPFSSADVKPKVEDLDKDLVNRYTQNGSLDFSNNLTVNEMEDDEDDEEMSDSNS +PPIPYSQKPAPEGSCTTDGFCQAGKDLRLVSLCMEQIDIPAGFLLVGAKSPNLPEHILVCAVDKRFLPDDHGKNALLGFSGNCIGCGERGFRYFTEFSNH +INLKLTTQPKKQKHLKYYLVRSSQGVLSKGPLICWKECRSRQSSASCHSIKPSSSVSSTVTPENGTTNGYKSGFTQTDAANGNSSHGGKGSASSSTPAHT +GNYSLSPRPSYASGDQATMFISGPPKKRHRGWYPGSPLPQPGLVVPVPTVRPLSRTEPLLSAPVPQTPLTGILQPRPIPAGETVIVPENLLSNSGVRPVI +LIGYGTLPYFYGNVGDIVVSPLLVNCYKIPQLENKDLEKLGLTGSQFLSVENMILLTIQYLVRLGPDQVPLREEFEQIMLKAMQEFTLRERALQIGAQCV +PVSPGQLPWLARLIASVSQDLVHVVVTQNSLAEGISETLRTLSEMRHYQRLPDYVVVICASKIRGNEFCVVVLGQHQSRALAESMLTTSEFLKEISYELI +TGKVSFLASHFKTTSLGDDLDKLLEKMQQRRGDSVVTPFDGDLNECVSPQEAAAMIPTQNLDLDNETFHIYQPQLTVARKLLSQVCAIADSGSQSLDLGH +FSKVDFIIIVPRSEVLVQQTLQRIRQSGVLVDLGLEENGTAHQRAEKYVVRLDNEIQTKFEVFMRRVKQNPYTLFVLVHDNSHVELTSVISGSLSHSEPS +HGLADRVINCREVLEAFNLLVLQVSSFPYTLQTQQSRISSSNEVHWIQLDTGEDVGCEEKLYFGLSEYSKSLQWGITSPLLRCDETFEKMVNTLLERYPR +LHSMVVRCYLLIQQYSEALMALTTMASLRDHSTPETLSIMDDLISSPGKNKSGRGHMLIIRVPSVQLAMLAKERLQEVRDKLGLQYRFEIILGNPATELS +VATHFVARLKSWRGNEPEEWIPRTYQDLDGLPCIVILTGKDPLGETFPRSLKYCDLRLIDSSYLTRTALEQEVGLACCYVSKEVIRGPTVALDLSGKEQE +RAAVSENDSDELLIDLERPQSNSSAVTGTSGSIMENGVSSSSTADKSQKQSLTPSFQSPATSLGLDEGVSASSAGAGAGETLKQECDSLGPQMASSTTSK +PSSSSSGPRTLPWPGQPIRGCRGPQAALPPVVILSKAAYSLLGSQKSGKLPSSSSLLPHADVAWVSSLRPLLNKDMSSEEQSLYYRQWTLARQHHADYSN +QLDPASGTRNFHPRRLLLTGPPQVGKTGSYLQFLRILFRMLIRLLEVDVYDEEEINTDHNESSEVSQSEGEPWPDIESFSKMPFDVSVHDPKYSLMSLVY +TEKLAGVKQEVIKESKVEEPRKRETVSIMLTKYAAYNTFHHCEQCRQYMDFTSASQMSDSTLHAFTFSSSMLGEEVQLYFIIPKSKESHFVFSKQGKHLE +SMRLPLVSDKNLNAVKSPIFTPSSGRHEHGLLNLFHAMEGISHLHLLVVKEYEMPLYRKYWPNHIMLVLPGMFNNAGVGAARFLIKELSYHNLELERNRL +EELGIKRQCVWPFIVMMDDSCVLWNIHSVQEPSSQPMEVGVSSKNVSLKTVLQHIEATPKIVHYAILGIQKWSSKLTSQSLKAPFSRCHVHDFILLNTDL +TQNVQYDFNRYFCEDADFNLRTNSSGLLICRFNNFSLMKKHVQVGGQRDFIIKPKIMVSESLAPILPLQYICAPDSEHTLLAAPAQFLLEKFLQHASYKL +FPKAIHNFRSPVLAIDCYLNIGPEVAICYISSRPHSSNVNCEGVFFSGLLLYLCDSFVGADLLKKFKFLKGATLCVICQDRSSLRQTIVRLELEDEWQFR +LRDEFQTANSSDDKPLYFLTGRHV* +>line35708 NM_052947 WILDTYPE +MKDSEGPQRPPLCFLSTLLSQKVPEKSDAVLRCIISGQPKPEVTWYKNGQAIDGSGIISNYEFFENQYIHVLHLSCCTKNDAAVYQISAKNSFGMICCSA +SVEVECSSENPQLSPNLEDDRDRGWKHETGTHEEERANQIDEKEHPYKEEESISPGTPRSADSSPSKSNHSLSLQSLGNLDISVSSSENPLGVKGTRHTG +EAYDPSNTEEIANGLLFLNSSHIYEKQDRCCHKTVHSMASKFTDGDLNNDGPHDEGLRSSQQNPKVQKYISFSLPLSEATAHIYPGDSAVANKQPSPQLS +SEDSDSDYELCPEITLTYTEEFSDDDLEYLECSDVMTDYSNAVWQRNLLGTEHVFLLESDDEEMEFGEHCLGGCEHFLSGMGCGSRVSGDAGPMVATAGF +CGHHSQPQEVGVRSSRVSKHGPSSPQTGMTLILGPHQDGTSSVTEQGRYKLPTAPEAAENDYPGIQGETRDSHQAREEFASDNLLNMDESVRETEMKLLS +GESENSGMSQCWETAADKRVGGKDLWSKRGSRKSARVRQPGMKGNPKKPNANLRESTTEGTLHLCSAKESAEPPLTQSDKRETSHTTAAATGRSSHADAR +ECAISTQAEQEAKTLQTSTDSVSKEGNTNCKGEGMQVNTLFETSQVPDWSDPPQVQVQETVRETISCSQMPAFSEPAGEESPFTGTTTISFSNLGGVHKE +NASLAQHSEVKPCTCGPQHEEKQDRDGNIPDNFREDLKYEQSISEANDETMSPGVFSRHLPKDARADFREPVAVSVASPEPTDTALTLENVCDEPRDREA +VCAMECFEAGDQGTCFDTIDSLVGRPVDKYSPQEICSVDTELAEGQNKVSDLCSSNDKTLEVFFQTQVSETSVSTCKSSKDGNSVMSPLFTSTFTLNISH +TASEGATGENLAKVENSTYPLASTVHAGQEQPSPSNSGGLDETQLLSSENNPLVQFKEGGDKSPSPSAADTTATPASYSSIVSFPWEKPTTLTANNECFQ +ATRETEDTSTVTIATEVHPAKYLAVSIPEDKHAGGTEERFPRASHEKVSQFPSQVQLDHILSGATIKSTKELLCRAPSVPGVPHHVLQLPEGEGFCSNSP +LQVDNLSGDKSQTVDRADFRSYEENFQERGSETKQGVQQQSLSQQGSLSAPDFQQSLPTTSAAQEERNLVPTAHSPASSREGAGQRSGWGTRVSVVAETA +GEEDSQALSNVPSLSDILLEESKEYRPGNWEAGNKLKIITLEASASEIWPPRQLTNSESKASDGGLIIPDKVWAVPDSLKADAVVPELAPSEIAALAHSP +EDAESALADSRESHKGEEPTISVHWRSLSSRGFSQPRLLESSVDPVDEKELSVTDSLSAASETGGKENVNNVSQDQEEKQLKMDHTAFFKKFLTCPKILE +SSVDPIDEISVIEYTRAGKPEPSETTPQGAREGGQSNDGNMGHEAEIQPAILQVPCLQGTILSENRISRSQEGSMKQEAEQIQPEEAKTAIWQVLQPSEG +GERIPSGCSIGQIQESSDGSLGEAEQSKKDKAELISPTSPLSSCLPIMTHASLGVDTHNSTGQIHDVPENDIVEPRKRQYVFPVSQKRGTIENERGKPLP +SSPDLTRFPCTSSPEGNVTDFLISHKMEEPKIEVLQIGETKPPSSSSSSAKTLAFISGERELEKAPKLLQDPCQKGTLGCAKKSREREKSLEARAGKSPG +TLTAVTGSEEVKRKPEAPGSGHLAEGVKKKILSRVAALRLKLEEKENIRKNSAFLKKMPKLETSLSHTEEKQDPKKPSCKREGRAPVLLKKIQAEMFPEH +SGNVKLSCQFAEIHEDSTICWTKDSKSIAQVQRSAGDNSTVSFAIVQASPKDQGLYYCCIKNSYGKVTAEFNLTAEVLKQLSSRQDTKGCEEIEFSQLIF +KEDFLHDSYFGGRLRGQIATEELHFGEGVHRKAFRSTVMHGLMPVFKPGHACVLKVHNAIAYGTRNNDELIQRNYKLAAQECYVQNTARYYAKIYAAEAQ +PLEGFGEVPEIIPIFLIHRPENNIPYATVEEELIGEFVKYSIRDGKEINFLRRESEAGQKCCTFQHWVYQKTSGCLLVTDMQGVGMKLTDVGIATLAKGY +KGFKGNCSMTFIDQFKALHQCNKYCKMLGLKSLQNNNQKQKQPSIGKSKVQTNSMTIKKAGPETPGEKKT* +>line35708 NM_052947 c.3017_3031del p.E1006_T1010del protein-altering (position 1006-1010 changed from EDTST to ) +MKDSEGPQRPPLCFLSTLLSQKVPEKSDAVLRCIISGQPKPEVTWYKNGQAIDGSGIISNYEFFENQYIHVLHLSCCTKNDAAVYQISAKNSFGMICCSA +SVEVECSSENPQLSPNLEDDRDRGWKHETGTHEEERANQIDEKEHPYKEEESISPGTPRSADSSPSKSNHSLSLQSLGNLDISVSSSENPLGVKGTRHTG +EAYDPSNTEEIANGLLFLNSSHIYEKQDRCCHKTVHSMASKFTDGDLNNDGPHDEGLRSSQQNPKVQKYISFSLPLSEATAHIYPGDSAVANKQPSPQLS +SEDSDSDYELCPEITLTYTEEFSDDDLEYLECSDVMTDYSNAVWQRNLLGTEHVFLLESDDEEMEFGEHCLGGCEHFLSGMGCGSRVSGDAGPMVATAGF +CGHHSQPQEVGVRSSRVSKHGPSSPQTGMTLILGPHQDGTSSVTEQGRYKLPTAPEAAENDYPGIQGETRDSHQAREEFASDNLLNMDESVRETEMKLLS +GESENSGMSQCWETAADKRVGGKDLWSKRGSRKSARVRQPGMKGNPKKPNANLRESTTEGTLHLCSAKESAEPPLTQSDKRETSHTTAAATGRSSHADAR +ECAISTQAEQEAKTLQTSTDSVSKEGNTNCKGEGMQVNTLFETSQVPDWSDPPQVQVQETVRETISCSQMPAFSEPAGEESPFTGTTTISFSNLGGVHKE +NASLAQHSEVKPCTCGPQHEEKQDRDGNIPDNFREDLKYEQSISEANDETMSPGVFSRHLPKDARADFREPVAVSVASPEPTDTALTLENVCDEPRDREA +VCAMECFEAGDQGTCFDTIDSLVGRPVDKYSPQEICSVDTELAEGQNKVSDLCSSNDKTLEVFFQTQVSETSVSTCKSSKDGNSVMSPLFTSTFTLNISH +TASEGATGENLAKVENSTYPLASTVHAGQEQPSPSNSGGLDETQLLSSENNPLVQFKEGGDKSPSPSAADTTATPASYSSIVSFPWEKPTTLTANNECFQ +ATRETVTIATEVHPAKYLAVSIPEDKHAGGTEERFPRASHEKVSQFPSQVQLDHILSGATIKSTKELLCRAPSVPGVPHHVLQLPEGEGFCSNSPLQVDN +LSGDKSQTVDRADFRSYEENFQERGSETKQGVQQQSLSQQGSLSAPDFQQSLPTTSAAQEERNLVPTAHSPASSREGAGQRSGWGTRVSVVAETAGEEDS +QALSNVPSLSDILLEESKEYRPGNWEAGNKLKIITLEASASEIWPPRQLTNSESKASDGGLIIPDKVWAVPDSLKADAVVPELAPSEIAALAHSPEDAES +ALADSRESHKGEEPTISVHWRSLSSRGFSQPRLLESSVDPVDEKELSVTDSLSAASETGGKENVNNVSQDQEEKQLKMDHTAFFKKFLTCPKILESSVDP +IDEISVIEYTRAGKPEPSETTPQGAREGGQSNDGNMGHEAEIQPAILQVPCLQGTILSENRISRSQEGSMKQEAEQIQPEEAKTAIWQVLQPSEGGERIP +SGCSIGQIQESSDGSLGEAEQSKKDKAELISPTSPLSSCLPIMTHASLGVDTHNSTGQIHDVPENDIVEPRKRQYVFPVSQKRGTIENERGKPLPSSPDL +TRFPCTSSPEGNVTDFLISHKMEEPKIEVLQIGETKPPSSSSSSAKTLAFISGERELEKAPKLLQDPCQKGTLGCAKKSREREKSLEARAGKSPGTLTAV +TGSEEVKRKPEAPGSGHLAEGVKKKILSRVAALRLKLEEKENIRKNSAFLKKMPKLETSLSHTEEKQDPKKPSCKREGRAPVLLKKIQAEMFPEHSGNVK +LSCQFAEIHEDSTICWTKDSKSIAQVQRSAGDNSTVSFAIVQASPKDQGLYYCCIKNSYGKVTAEFNLTAEVLKQLSSRQDTKGCEEIEFSQLIFKEDFL +HDSYFGGRLRGQIATEELHFGEGVHRKAFRSTVMHGLMPVFKPGHACVLKVHNAIAYGTRNNDELIQRNYKLAAQECYVQNTARYYAKIYAAEAQPLEGF +GEVPEIIPIFLIHRPENNIPYATVEEELIGEFVKYSIRDGKEINFLRRESEAGQKCCTFQHWVYQKTSGCLLVTDMQGVGMKLTDVGIATLAKGYKGFKG +NCSMTFIDQFKALHQCNKYCKMLGLKSLQNNNQKQKQPSIGKSKVQTNSMTIKKAGPETPGEKKT* +>line35768 NM_032649 WILDTYPE +MDPKLGRMAASLLAVLLLLLERGMFSSPSPPPALLEKVFQYIDLHQDEFVQTLKEWVAIESDSVQPVPRFRQELFRMMAVAADTLQRLGARVASVDMGPQ +QLPDGQSLPIPPIILAELGSDPTKGTVCFYGHLDVQPADRGDGWLTDPYVLTEVDGKLYGRGATDNKGPVLAWINAVSAFRALEQDLPVNIKFIIEGMEE +AGSVALEELVEKEKDRFFSGVDYIVISDNLWISQRKPAITYGTRGNSYFMVEVKCRDQDFHSGTFGGILHEPMADLVALLGSLVDSSGHILVPGIYDEVV +PLTEEEINTYKAIHLDLEEYRNSSRVEKFLFDTKEEILMHLWRYPSLSIHGIEGAFDEPGTKTVIPGRVIGKFSIRLVPHMNVSAVEKQVTRHLEDVFSK +RNSSNKMVVSMTLGLHPWIANIDDTQYLAAKRAIRTVFGTEPDMIRDGSTIPIAKMFQEIVHKSVVLIPLGAVDDGEHSQNEKINRWNYIEGTKLFAAFF +LEMAQLH* +>line35768 NM_032649 c.43_44insTGC p.L20_E21insL protein-altering (position 20-21 has insertion L) +MDPKLGRMAASLLAVLLLLLLERGMFSSPSPPPALLEKVFQYIDLHQDEFVQTLKEWVAIESDSVQPVPRFRQELFRMMAVAADTLQRLGARVASVDMGP +QQLPDGQSLPIPPIILAELGSDPTKGTVCFYGHLDVQPADRGDGWLTDPYVLTEVDGKLYGRGATDNKGPVLAWINAVSAFRALEQDLPVNIKFIIEGME +EAGSVALEELVEKEKDRFFSGVDYIVISDNLWISQRKPAITYGTRGNSYFMVEVKCRDQDFHSGTFGGILHEPMADLVALLGSLVDSSGHILVPGIYDEV +VPLTEEEINTYKAIHLDLEEYRNSSRVEKFLFDTKEEILMHLWRYPSLSIHGIEGAFDEPGTKTVIPGRVIGKFSIRLVPHMNVSAVEKQVTRHLEDVFS +KRNSSNKMVVSMTLGLHPWIANIDDTQYLAAKRAIRTVFGTEPDMIRDGSTIPIAKMFQEIVHKSVVLIPLGAVDDGEHSQNEKINRWNYIEGTKLFAAF +FLEMAQLH* +>line35883 NM_001144762 WILDTYPE +MQRHYVMYYEMSYGLNIEMHKQAEIVKRLSGICAQIIPFLTQEHQQQVLQAVERAKQVTVGELNSLIGSASPSPPESLVEEERPSGPGGGGKQRADEKEP +SGPYESDEDKSDYNLVVDEDQPSEPPSPATTPCGKVPICIPARRDLVDSPASLASSLGSPLPRAKELILNDLPASTPASKSCDSSPPQDASTPGPSSASH +LCQLAAKPAPSTDSVALRSPLTLSSPFTTSFSLGSHSTLNGDLSVPSSYVSLHLSPQVSSSVVYGRSPVMAFESHPHLRGSSVSSSLPSIPGGKPAYSFH +VSADGQMQPVPFPSDALVGAGIPRHARQLHTLAHGEVVCAVTISGSTQHVYTGGKGCVKVWDVGQPGAKTPVAQLDCLNRDNYIRSCKLLPDGRSLIVGG +EASTLSIWDLAAPTPRIKAELTSSAPACYALAVSPDAKVCFSCCSDGNIVVWDLQNQTMVRQFQGHTDGASCIDISDYGTRLWTGGLDNTVRCWDLREGR +QLQQHDFSSQIFSLGHCPNQDWLAVGMESSNVEILHVRKPEKYQLHLHESCVLSLKFASCGRWFVSTGKDNLLNAWRTPYGASIFQSKESSSVLSCDISR +NNKYIVTGSGDKKATVYEVVY* +>line35883 NM_001144762 c.1831delG p.D611Tfs*13 protein-altering (position 611-621 changed from DKKATVYEVVY to TRRPPCMRWSTET) +MQRHYVMYYEMSYGLNIEMHKQAEIVKRLSGICAQIIPFLTQEHQQQVLQAVERAKQVTVGELNSLIGSASPSPPESLVEEERPSGPGGGGKQRADEKEP +SGPYESDEDKSDYNLVVDEDQPSEPPSPATTPCGKVPICIPARRDLVDSPASLASSLGSPLPRAKELILNDLPASTPASKSCDSSPPQDASTPGPSSASH +LCQLAAKPAPSTDSVALRSPLTLSSPFTTSFSLGSHSTLNGDLSVPSSYVSLHLSPQVSSSVVYGRSPVMAFESHPHLRGSSVSSSLPSIPGGKPAYSFH +VSADGQMQPVPFPSDALVGAGIPRHARQLHTLAHGEVVCAVTISGSTQHVYTGGKGCVKVWDVGQPGAKTPVAQLDCLNRDNYIRSCKLLPDGRSLIVGG +EASTLSIWDLAAPTPRIKAELTSSAPACYALAVSPDAKVCFSCCSDGNIVVWDLQNQTMVRQFQGHTDGASCIDISDYGTRLWTGGLDNTVRCWDLREGR +QLQQHDFSSQIFSLGHCPNQDWLAVGMESSNVEILHVRKPEKYQLHLHESCVLSLKFASCGRWFVSTGKDNLLNAWRTPYGASIFQSKESSSVLSCDISR +NNKYIVTGSGTRRPPCMRWSTET* +>line35926 NM_001001520 WILDTYPE +MPHAFKPGDLVFAKMKGYPHWPARIDDIADGAVKPPPNKYPIFFFGTHETAFLGPKDLFPYDKCKDKYGKPNKRKGFNEGLWEIQNNPHASYSAPPPVSS +SDSEAPEANPADGSDADEDDEDRGVMAVTAVTATAASDRMESDSDSDKSSDNSGLKRKTPALKMSVSKRARKASSDLDQASVSPSEEENSESSSESEKTS +DQDFTPEKKAAVRAPRRGPLGGRKKKKAPSASDSDSKADSDGAKPEPVAMARSASSSSSSSSSSDSDVSVKKPPRGRKPAEKPLPKPRGRKPKPERPPSS +SSSDSDSDEVDRISEWKRRDEARRRELEARRRREQEEELRRLREQEKEEKERRRERADRGEAERGSGGSSGDELREDDEPVKKRGRKGRGRGPPSSSDSE +PEAELEREAKKSAKKPQSSSTEPARKPGQKEKRVRPEEKQQAKPVKVERTRKRSEGFSMDRKVEKKKEPSVEEKLQKLHSEIKFALKVDSPDVKRCLNAL +EELGTLQVTSQILQKNTDVVATLKKIRRYKANKDVMEKAAEVYTRLKSRVLGPKIEAVQKVNKAGMEKEKAEEKLAGEELAGEEAPQEKAEDKPSTDLSA +PVNGEATSQKGESAEDKEHEEGRDSEEGPRCGSSEDLHDSVREGPDLDRPGSDRQERERARGDSEALDEES* +>line35926 NM_001001520 c.1721_1722del p.K574Tfs*60 protein-altering (position 574-671 changed from KLAGEELAGEEAPQEKAEDKPSTDLSAPVNGEATSQKGESAEDKEHEEGRDSEEGPRCGSSEDLHDSVREGPDLDRPGSDRQERERARGDSEALDEES to TGRGGAGRGGGPPGEGGGQAQHRSLSPSEWRGHITEGGERRGQGARGGSGLGGGAKVWLL) +MPHAFKPGDLVFAKMKGYPHWPARIDDIADGAVKPPPNKYPIFFFGTHETAFLGPKDLFPYDKCKDKYGKPNKRKGFNEGLWEIQNNPHASYSAPPPVSS +SDSEAPEANPADGSDADEDDEDRGVMAVTAVTATAASDRMESDSDSDKSSDNSGLKRKTPALKMSVSKRARKASSDLDQASVSPSEEENSESSSESEKTS +DQDFTPEKKAAVRAPRRGPLGGRKKKKAPSASDSDSKADSDGAKPEPVAMARSASSSSSSSSSSDSDVSVKKPPRGRKPAEKPLPKPRGRKPKPERPPSS +SSSDSDSDEVDRISEWKRRDEARRRELEARRRREQEEELRRLREQEKEEKERRRERADRGEAERGSGGSSGDELREDDEPVKKRGRKGRGRGPPSSSDSE +PEAELEREAKKSAKKPQSSSTEPARKPGQKEKRVRPEEKQQAKPVKVERTRKRSEGFSMDRKVEKKKEPSVEEKLQKLHSEIKFALKVDSPDVKRCLNAL +EELGTLQVTSQILQKNTDVVATLKKIRRYKANKDVMEKAAEVYTRLKSRVLGPKIEAVQKVNKAGMEKEKAEETGRGGAGRGGGPPGEGGGQAQHRSLSP +SEWRGHITEGGERRGQGARGGSGLGGGAKVWLL* +>line35980 NM_002096 WILDTYPE +MAALGPSSQNVTEYVVRVPKNTTKKYNIMAFNAADKVNFATWNQARLERDLSNKKIYQEEEMPESGAGSEFNRKLREEARRKKYGIVLKEFRPEDQPWLL +RVNGKSGRKFKGIKKGGVTENTSYYIFTQCPDGAFEAFPVHNWYNFTPLARHRTLTAEEAEEEWERRNKVLNHFSIMQQRRLKDQDQDEDEEEKEKRGRR +KASELRIHDLEDDLEMSSDASDASGEEGGRVPKAKKKAPLAKGGRKKKKKKGSDDEAFEDSDDGDFEGQEVDYMSDGSSSSQEEPESKAKAPQQEEGPKG +VDEQSDSSEESEEEKPPEEDKEEEEEKKAPTPQEKKRRKDSSEESDSSEESDIDSEASSALFMAKKKTPPKRERKPSGGSSRGNSRPGTPSAEGGSTSST +LRAAASKLEQGKRVSEMPAAKRLRLDTGPQSLSGKSTPQPPSGKTTPNSGDVQVTEDAVRRYLTRKPMTTKDLLKKFQTKKTGLSSEQTVNVLAQILKRL +NPERKMINDKMHFSLKE* +>line35980 NM_002096 c.976_978del p.E326del protein-altering (position 326 changed from E to ) +MAALGPSSQNVTEYVVRVPKNTTKKYNIMAFNAADKVNFATWNQARLERDLSNKKIYQEEEMPESGAGSEFNRKLREEARRKKYGIVLKEFRPEDQPWLL +RVNGKSGRKFKGIKKGGVTENTSYYIFTQCPDGAFEAFPVHNWYNFTPLARHRTLTAEEAEEEWERRNKVLNHFSIMQQRRLKDQDQDEDEEEKEKRGRR +KASELRIHDLEDDLEMSSDASDASGEEGGRVPKAKKKAPLAKGGRKKKKKKGSDDEAFEDSDDGDFEGQEVDYMSDGSSSSQEEPESKAKAPQQEEGPKG +VDEQSDSSEESEEEKPPEEDKEEEEKKAPTPQEKKRRKDSSEESDSSEESDIDSEASSALFMAKKKTPPKRERKPSGGSSRGNSRPGTPSAEGGSTSSTL +RAAASKLEQGKRVSEMPAAKRLRLDTGPQSLSGKSTPQPPSGKTTPNSGDVQVTEDAVRRYLTRKPMTTKDLLKKFQTKKTGLSSEQTVNVLAQILKRLN +PERKMINDKMHFSLKE* +>line36021 NM_018083 WILDTYPE +MRRSVLVRNPGHKGLRPVYEELDSDSEDLDPNPEDLDPVSEDPEPDPEDLNTVPEDVDPSYEDLEPVSEDLDPDAEAPGSEPQDPDPMSSSFDLDPDVIG +PVPLILDPNSDTLSPGDPKVDPISSGLTATPQVLATSPAVLPAPASPPRPFSCPDCGRAFRRSSGLSQHRRTHSGEKPYRCPDCGKSFSHGATLAQHRGI +HTGARPYQCAACGKAFGWRSTLLKHRSSHSGEKPHHCPVCGKAFGHGSLLAQHLRTHGGPRPHKCPVCAKGFGQGSALLKHLRTHTGERPYPCPQCGKAF +GQSSALLQHQRTHTAERPYRCPHCGKAFGQSSNLQHHLRIHTGERPYACPHCSKAFGQSSALLQHLHVHSGERPYRCQLCGKAFGQASSLTKHKRVHEGA +AAAAAAAAAAAAAAAAGLGLGPGLSPASMMRPGQVSLLGPDAVSVLGSGLGLSPGTSSGRNPDPGSGPGTLPDPSSKPLPGSRSTPSPTPVESSDPKAGH +DAGPDLVPSPDLDPVPSPDPDPVPSPDPNPVSCPDPCSPTRGTVSPALPTGESPEWVQEQGALLGPDG* +>line36021 NM_018083 c.1210_1236del p.A408_A416del protein-altering (position 408-416 changed from AAAAAAAAA to ) +MRRSVLVRNPGHKGLRPVYEELDSDSEDLDPNPEDLDPVSEDPEPDPEDLNTVPEDVDPSYEDLEPVSEDLDPDAEAPGSEPQDPDPMSSSFDLDPDVIG +PVPLILDPNSDTLSPGDPKVDPISSGLTATPQVLATSPAVLPAPASPPRPFSCPDCGRAFRRSSGLSQHRRTHSGEKPYRCPDCGKSFSHGATLAQHRGI +HTGARPYQCAACGKAFGWRSTLLKHRSSHSGEKPHHCPVCGKAFGHGSLLAQHLRTHGGPRPHKCPVCAKGFGQGSALLKHLRTHTGERPYPCPQCGKAF +GQSSALLQHQRTHTAERPYRCPHCGKAFGQSSNLQHHLRIHTGERPYACPHCSKAFGQSSALLQHLHVHSGERPYRCQLCGKAFGQASSLTKHKRVHEGA +AAAAAAAGLGLGPGLSPASMMRPGQVSLLGPDAVSVLGSGLGLSPGTSSGRNPDPGSGPGTLPDPSSKPLPGSRSTPSPTPVESSDPKAGHDAGPDLVPS +PDLDPVPSPDPDPVPSPDPNPVSCPDPCSPTRGTVSPALPTGESPEWVQEQGALLGPDG* +>line36157 NM_032447 WILDTYPE +MTLEGLYLARGPLARLLLAWSALLCMAGGQGRWDGALEAAGPGRVRRRGSPGILQGPNVCGSRFHAYCCPGWRTFPGRSQCVVPICRRACGEGFCSQPNL +CTCADGTLAPSCGVSRGSGCSVSCMNGGTCRGASCLCQKGYTGTVCGQPICDRGCHNGGRCIGPNRCACVYGFMGPQCERDYRTGPCFGQVGPEGCQHQL +TGLVCTKALCCATVGRAWGLPCELCPAQPHPCRRGFIPNIHTGACQDVDECQAVPGLCQGGSCVNMVGSFHCRCPVGHRLSDSSAACEDYRAGACFSVLF +GGRCAGDLAGHYTRRQCCCDRGRCWAAGPVPELCPPRGSNEFQQLCAQRLPLLPGHPGLFPGLLGFGSNGMGPPLGPARLNPHGSDARGIPSLGPGNSNI +GTATLNQTIDICRHFTNLCLNGRCLPTPSSYRCECNVGYTQDVRGECIDVDECTSSPCHHGDCVNIPGTYHCRCYPGFQATPTRQACVDVDECIVSGGLC +HLGRCVNTEGSFQCVCNAGFELSPDGKNCVDHNECATSTMCVNGVCLNEDGSFSCLCKPGFLLAPGGHYCMDIDECQTPGICVNGHCTNTEGSFRCQCLG +GLAVGTDGRVCVDTHVRSTCYGAIEKGSCARPFPGTVTKSECCCANPDHGFGEPCQLCPAKDSAEFQALCSSGLGITTDGRDINECALDPEVCANGVCEN +LRGSYRCVCNLGYEAGASGKDCTDVDECALNSLLCDNGWCQNSPGSYSCSCPPGFHFWQDTEICKDVDECLSSPCVSGVCRNLAGSYTCKCGPGSRLDPS +GTFCLDSTKGTCWLKIQESRCEVNLQGASLRSECCATLGAAWGSPCERCEIDPACARGFARMTGVTCDDVNECESFPGVCPNGRCVNTAGSFRCECPEGL +MLDASGRLCVDVRLEPCFLRWDEDECGVTLPGKYRMDVCCCSIGAVWGVECEACPDPESLEFASLCPRGLGFASRDFLSGRPFYKDVNECKVFPGLCTHG +TCRNTVGSFHCACAGGFALDAQERNCTDIDECRISPDLCGQGTCVNTPGSFECECFPGYESGFMLMKNCMDVDECARDPLLCRGGTCTNTDGSYKCQCPP +GHELTAKGTACEDIDECSLSDGLCPHGQCVNVIGAFQCSCHAGFQSTPDRQGCVDINECRVQNGGCDVHCINTEGSYRCSCGQGYSLMPDGRACADVDEC +EENPRVCDQGHCTNMPGGHRCLCYDGFMATPDMRTCVDVDECDLNPHICLHGDCENTKGSFVCHCQLGYMVRKGATGCSDVDECEVGGHNCDSHASCLNI +PGSFSCRCLPGWVGDGFECHDLDECVSQEHRCSPRGDCLNVPGSYRCTCRQGFAGDGFFCEDRDECAENVDLCDNGQCLNAPGGYRCECEMGFDPTEDHR +ACQDVDECAQGNLCAFGSCENLPGMFRCICNGGYELDRGGGNCTDINECADPVNCINGVCINTPGSYLCSCPQDFELNPSGVGCVDTRAGNCFLETHDRG +DSGISCSAEIGVGVTRASCCCSLGRAWGNPCELCPMANTTEYRTLCPGGEGFQPNRITVILEDIDECQELPGLCQGGDCVNTFGSFQCECPPGYHLSEHT +RICEDIDECSTHSGICGPGTCYNTLGNYTCVCPAEYLQVNGGNNCMDMRKSVCFRHYNGTCQNELAFNVTRKMCCCSYNIGQAWNRPCEACPTPISPDYQ +ILCGNQAPGFLTDIHTGKPLDIDECGEIPAICANGICINQIGSFRCECPAGFNYNSILLACEDVDECGSRESPCQQNADCINIPGSYRCKCTRGYKLSPG +GACVGRNECREIPNVCSHGDCMDTEGSYMCLCHRGFQASADQTLCMDIDECDRQPCGNGTCKNIIGSYNCLCFPGFVVTHNGDCVDFDECTTLVGQVCRF +GHCLNTAGSFHCLCQDGFELTADGKNCVDTNECLSLAGTCLPGTCQNLEGSFRCICPPGFQVQSDHCIDIDECSEEPNLCLFGTCTNSPGSFQCLCPPGF +VLSDNGHRCFDTRQSFCFTRFEAGKCSVPKAFNTTKTRCCCSKRPGEGWGDPCELCPQEGSAAFQELCPFGHGAVPGPDDSREDVNECAENPGVCTNGVC +VNTDGSFRCECPFGYSLDFTGINCVDTDECSVGHPCGQGTCTNVIGGFECACADGFEPGLMMTCEDIDECSLNPLLCAFRCHNTEGSYLCTCPAGYTLRE +DGAMCRDVDECADGQQDCHARGMECKNLIGTFACVCPPGMRPLPGSGEGCTDDNECHAQPDLCVNGRCVNTAGSFRCDCDEGFQPSPTLTECHDIRQGPC +FAEVLQTMCRSLSSSSEAVTRAECCCGGGRGWGPRCELCPLPGTSAYRKLCPHGSGYTAEGRDVDECRMLAHLCAHGECINSLGSFRCHCQAGYTPDATA +TTCLDMDECSQVPKPCTFLCKNTKGSFLCSCPRGYLLEEDGRTCKDLDECTSRQHNCQFLCVNTVGAFTCRCPPGFTQHHQACFDNDECSAQPGPCGAHG +HCHNTPGSFRCECHQGFTLVSSGHGCEDVNECDGPHRCQHGCQNQLGGYRCSCPQGFTQHSQWAQCVDENECALSPPTCGSASCRNTLGGFRCVCPSGFD +FDQALGGCQEVDECAGRRGPCSYSCANTPGGFLCGCPQGYFRAGQGHCVSGLGFSPGPQDTPDKEELLSSEACYECKINGLSPRDRPRRSAHRDHQVNLA +TLDSEALLTLGLNLSHLGRAERILELRPALEGLEGRIRYVIVRGNEQGFFRMHHLRGVSSLQLGRRRPGPGTYRLEVVSHMAGPWGVQPEGQPGPWGQAL +RLKVQLQLL* +>line36157 NM_032447 c.8046_8047TT p.P2683S protein-altering (position 2683 changed from P to S) +MTLEGLYLARGPLARLLLAWSALLCMAGGQGRWDGALEAAGPGRVRRRGSPGILQGPNVCGSRFHAYCCPGWRTFPGRSQCVVPICRRACGEGFCSQPNL +CTCADGTLAPSCGVSRGSGCSVSCMNGGTCRGASCLCQKGYTGTVCGQPICDRGCHNGGRCIGPNRCACVYGFMGPQCERDYRTGPCFGQVGPEGCQHQL +TGLVCTKALCCATVGRAWGLPCELCPAQPHPCRRGFIPNIHTGACQDVDECQAVPGLCQGGSCVNMVGSFHCRCPVGHRLSDSSAACEDYRAGACFSVLF +GGRCAGDLAGHYTRRQCCCDRGRCWAAGPVPELCPPRGSNEFQQLCAQRLPLLPGHPGLFPGLLGFGSNGMGPPLGPARLNPHGSDARGIPSLGPGNSNI +GTATLNQTIDICRHFTNLCLNGRCLPTPSSYRCECNVGYTQDVRGECIDVDECTSSPCHHGDCVNIPGTYHCRCYPGFQATPTRQACVDVDECIVSGGLC +HLGRCVNTEGSFQCVCNAGFELSPDGKNCVDHNECATSTMCVNGVCLNEDGSFSCLCKPGFLLAPGGHYCMDIDECQTPGICVNGHCTNTEGSFRCQCLG +GLAVGTDGRVCVDTHVRSTCYGAIEKGSCARPFPGTVTKSECCCANPDHGFGEPCQLCPAKDSAEFQALCSSGLGITTDGRDINECALDPEVCANGVCEN +LRGSYRCVCNLGYEAGASGKDCTDVDECALNSLLCDNGWCQNSPGSYSCSCPPGFHFWQDTEICKDVDECLSSPCVSGVCRNLAGSYTCKCGPGSRLDPS +GTFCLDSTKGTCWLKIQESRCEVNLQGASLRSECCATLGAAWGSPCERCEIDPACARGFARMTGVTCDDVNECESFPGVCPNGRCVNTAGSFRCECPEGL +MLDASGRLCVDVRLEPCFLRWDEDECGVTLPGKYRMDVCCCSIGAVWGVECEACPDPESLEFASLCPRGLGFASRDFLSGRPFYKDVNECKVFPGLCTHG +TCRNTVGSFHCACAGGFALDAQERNCTDIDECRISPDLCGQGTCVNTPGSFECECFPGYESGFMLMKNCMDVDECARDPLLCRGGTCTNTDGSYKCQCPP +GHELTAKGTACEDIDECSLSDGLCPHGQCVNVIGAFQCSCHAGFQSTPDRQGCVDINECRVQNGGCDVHCINTEGSYRCSCGQGYSLMPDGRACADVDEC +EENPRVCDQGHCTNMPGGHRCLCYDGFMATPDMRTCVDVDECDLNPHICLHGDCENTKGSFVCHCQLGYMVRKGATGCSDVDECEVGGHNCDSHASCLNI +PGSFSCRCLPGWVGDGFECHDLDECVSQEHRCSPRGDCLNVPGSYRCTCRQGFAGDGFFCEDRDECAENVDLCDNGQCLNAPGGYRCECEMGFDPTEDHR +ACQDVDECAQGNLCAFGSCENLPGMFRCICNGGYELDRGGGNCTDINECADPVNCINGVCINTPGSYLCSCPQDFELNPSGVGCVDTRAGNCFLETHDRG +DSGISCSAEIGVGVTRASCCCSLGRAWGNPCELCPMANTTEYRTLCPGGEGFQPNRITVILEDIDECQELPGLCQGGDCVNTFGSFQCECPPGYHLSEHT +RICEDIDECSTHSGICGPGTCYNTLGNYTCVCPAEYLQVNGGNNCMDMRKSVCFRHYNGTCQNELAFNVTRKMCCCSYNIGQAWNRPCEACPTPISPDYQ +ILCGNQAPGFLTDIHTGKPLDIDECGEIPAICANGICINQIGSFRCECPAGFNYNSILLACEDVDECGSRESPCQQNADCINIPGSYRCKCTRGYKLSPG +GACVGRNECREIPNVCSHGDCMDTEGSYMCLCHRGFQASADQTLCMDIDECDRQPCGNGTCKNIIGSYNCLCFPGFVVTHNGDCVDFDECTTLVGQVCRF +GHCLNTAGSFHCLCQDGFELTADGKNCVDTNECLSLAGTCLPGTCQNLEGSFRCICPPGFQVQSDHCIDIDECSEEPNLCLFGTCTNSPGSFQCLCPPGF +VLSDNGHRCFDTRQSFCFTRFEAGKCSVPKAFNTTKTRCCCSKRPGEGWGDPCELCPQEGSAAFQELCPFGHGAVPGPDDSREDVNECAENPGVCTNGVC +VNTDGSFRCECPFGYSLDFTGINCVDTDECSVGHPCGQGTCTNVIGGFECACADGFEPGLMMTCEDIDECSLNPLLCAFRCHNTEGSYLCTCPAGYTLRE +DGAMCRDVDECADGQQDCHARGMECKNLIGTFACVCPPGMRPLPGSGEGCTDDNECHAQPDLCVNGRCVNTAGSFRCDCDEGFQPSPTLTECHDIRQGPC +FAEVLQTMCRSLSSSSEAVTRAECCCGGGRGWGPRCELCPLPGTSAYRKLCPHGSGYTAEGRDVDECRMLAHLCAHGECINSLGSFRCHCQAGYTPDATA +TTCLDMDECSQVPKPCTFLCKNTKGSFLCSCPRGYLLEEDGRTCKDLDECTSRQHNCQFLCVNTVGAFTCRCPPGFTQHHQACFDNDECSAQPGPCGAHG +HCHNTPGSFRCECHQGFTLVSSGHGCEDVNECDGPHRCQHGCQNQLGGYRCSCPQGFTQHSQWAQCVDENECALSPPTCGSASCRNTLGGFRCVCPSGFD +FDQALGGCQEVDECAGRRGPCSYSCANTPGGFLCGCPQGYFRAGQGHCVSGLGFSPGPQDTPDKEELLSSEACYECKINGLSSRDRPRRSAHRDHQVNLA +TLDSEALLTLGLNLSHLGRAERILELRPALEGLEGRIRYVIVRGNEQGFFRMHHLRGVSSLQLGRRRPGPGTYRLEVVSHMAGPWGVQPEGQPGPWGQAL +RLKVQLQLL* +>line36395 NM_015725 WILDTYPE +MNGQSQVLPGGGHESREGINMAAAPRTVLISGCSSGIGLELAVQLAHDPKKRYQVVATMRDLGKKETLEAAAGEALGQTLTVAQLDVCSDESVAQCLSCI +QGEVDVLVNNAGMGLVGPLEGLSLAAMQNVFDTNFFGAVRLVKAVLPGMKRRRQGHIVVISSVMGLQGVIFNDVYAASKFALEGFFESLAIQLLQFNIFI +SLVEPGPVVTEFEGKLLAQVSMAEFPGTDPETLHYFRDLYLPASRKLFCSVGQNPQDVVQAIVNVISSTRPPLRRQTNIRYSPLTTLKTVDSSGSLYVRT +THRLLFRCPRLLNLGLQCLSCGCLPTRVRPR* +>line36395 NM_015725 c.665_666CA p.M222T protein-altering (position 222 changed from M to T) +MNGQSQVLPGGGHESREGINMAAAPRTVLISGCSSGIGLELAVQLAHDPKKRYQVVATMRDLGKKETLEAAAGEALGQTLTVAQLDVCSDESVAQCLSCI +QGEVDVLVNNAGMGLVGPLEGLSLAAMQNVFDTNFFGAVRLVKAVLPGMKRRRQGHIVVISSVMGLQGVIFNDVYAASKFALEGFFESLAIQLLQFNIFI +SLVEPGPVVTEFEGKLLAQVSTAEFPGTDPETLHYFRDLYLPASRKLFCSVGQNPQDVVQAIVNVISSTRPPLRRQTNIRYSPLTTLKTVDSSGSLYVRT +THRLLFRCPRLLNLGLQCLSCGCLPTRVRPR* +>line36587 NM_001001329 WILDTYPE +MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCC +DGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKSLEDQVEMLRTVKEEAEKPEREAKEQHQKLWEE +QLAAAKAQQEQELAADAFKELDDDMDGTVSVTELQTHPELDTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKYRSEALPTDLPAPSAPDLTEP +KEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEEDSEVQGEQPKPASPAEEDKMPPYDEQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFG +PNGEFAYLYSQCYELTTNEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETMVTSTTEPSRCEYL +MELMTPAACPEPPPEAPTEDDHDEL* +>line36587 NM_001001329 c.937_939del p.E325del protein-altering (position 325 changed from E to ) +MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCC +DGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKSLEDQVEMLRTVKEEAEKPEREAKEQHQKLWEE +QLAAAKAQQEQELAADAFKELDDDMDGTVSVTELQTHPELDTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKYRSEALPTDLPAPSAPDLTEP +KEEQPPVPSSPTEEEEEEEEEEEEAEEEEEEEDSEVQGEQPKPASPAEEDKMPPYDEQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFGP +NGEFAYLYSQCYELTTNEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETMVTSTTEPSRCEYLM +ELMTPAACPEPPPEAPTEDDHDEL* +>line36635 NM_001136501 WILDTYPE +MDLVAFEDVAVNFTQEEWSLLDPSQKNLYREVMQETLRNLASIGEKWKDQNIEDQYKNPRNNLRSLLGERVDENTEENHCGETSSQIPDDTLNKKTSPGV +KSCESSVCGEVFVGHSSLNRHIRADTAHKPSEYQEYGQEPYKCQQRKKAFRCHPSFQMQEKAHTGEKLYDCKECGKTFISHSSIQRHMIMHNGDGTYKCK +FCGKACPCLSIYLIHERVHTGEKPYKCKQCGKAFSYSTSLQIHERTHTGEKPYECKECGKAFGSPNSLYEHRRTHTGEKPYECKQCGKAFRWFHSFQIHE +RTHSEEKAYECTKCGKAFKCPSYLCRHEVTHSGKKPCECKQCGKALSYLNFQRHMKMHTRMRPYKCKTVEKPLILPVRFEDMKELTLERNLMNASTVVKP +SIVPVPFTIMKGLTLERNPMNVSSVVKPSFLPLPFDIMKGLTLERNRMSVSNVGKPSDLPHTFKCMEGLTLKRNPMNVSSVVKPSFFPLPFDIMKGLTLE +RNPMSVSNVGKPSHLPHTFKCMKGLTLESNCMNLNNVKKPLDLSETFKFMKRHTLERNPIRNMEKHSTISLPFKYMQQCTEDRMPMNVKSVTKHSYLPRS +FEYMQEHTLERNPMNVRNAEKRSIIFLLCVYTKGCTLERNHINVRIVGKHSVCLVPFVDIKGLTLE* +>line36635 NM_001136501 c.986_987CT p.V329A protein-altering (position 329 changed from V to A) +MDLVAFEDVAVNFTQEEWSLLDPSQKNLYREVMQETLRNLASIGEKWKDQNIEDQYKNPRNNLRSLLGERVDENTEENHCGETSSQIPDDTLNKKTSPGV +KSCESSVCGEVFVGHSSLNRHIRADTAHKPSEYQEYGQEPYKCQQRKKAFRCHPSFQMQEKAHTGEKLYDCKECGKTFISHSSIQRHMIMHNGDGTYKCK +FCGKACPCLSIYLIHERVHTGEKPYKCKQCGKAFSYSTSLQIHERTHTGEKPYECKECGKAFGSPNSLYEHRRTHTGEKPYECKQCGKAFRWFHSFQIHE +RTHSEEKAYECTKCGKAFKCPSYLCRHEATHSGKKPCECKQCGKALSYLNFQRHMKMHTRMRPYKCKTVEKPLILPVRFEDMKELTLERNLMNASTVVKP +SIVPVPFTIMKGLTLERNPMNVSSVVKPSFLPLPFDIMKGLTLERNRMSVSNVGKPSDLPHTFKCMEGLTLKRNPMNVSSVVKPSFFPLPFDIMKGLTLE +RNPMSVSNVGKPSHLPHTFKCMKGLTLESNCMNLNNVKKPLDLSETFKFMKRHTLERNPIRNMEKHSTISLPFKYMQQCTEDRMPMNVKSVTKHSYLPRS +FEYMQEHTLERNPMNVRNAEKRSIIFLLCVYTKGCTLERNHINVRIVGKHSVCLVPFVDIKGLTLE* +>line36717 NM_001127222 WILDTYPE +MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPF +EYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVL +RPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQ +FDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAE +EVILAEDETDGEQRHPFDALRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNT +LCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLR +NLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFG +NYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPD +ERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRE +SDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGE +RRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNS +TDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEE +KKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGL +VLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKG +KFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFF +FVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVF +NIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAM +LFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFL +MLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALI +RTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGG +PGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAEN +QRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERG +RPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYS +PVIRKAGGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEG +PPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSE +SDDDWC* +>line36717 NM_001127222 c.6973_6975del p.Q2325del protein-altering (position 2325 changed from Q to ) +MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPF +EYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVL +RPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQ +FDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAE +EVILAEDETDGEQRHPFDALRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNT +LCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLR +NLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFG +NYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPD +ERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRE +SDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGE +RRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNS +TDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEE +KKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGL +VLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKG +KFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFF +FVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVF +NIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAM +LFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFL +MLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALI +RTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGG +PGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAEN +QRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERG +RPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYS +PVIRKAGGSGPPQQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEGP +PGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSES +DDDWC* +>line36868 NM_012377 WILDTYPE +MERGNQTEVGNFLLLGFAEDSDMQLLLHGLFLSMYLVTIIGNLLIILTISSDSHLHTPMYFFLSNLSFADICFTSTTVPKMLVNIQTQSKMITFAGCLTQ +IFFFIAFGCLDNLLLTMTAYDRFVAICYPLHYTVIMNPRLCGLLVLGSWCISVMGSLLETLTILRLSFCTNMEIPHFFCDPSEVLKLACSDTFINNIVMY +FVTIVLGVFPLCGILFSYSQIFSSVLRVSARGQHKAFSTCGSHLSVVSLFYGTGLGVYLSSAVTPPSRTSLAASVMYTMVTPMLNPFIYSLRNKDMKGSL +GRLLLRATSLKEGTIAKLS* +>line36868 NM_012377 c.683_684insATC p.S229_A230insS protein-altering (position 229-230 has insertion S) +MERGNQTEVGNFLLLGFAEDSDMQLLLHGLFLSMYLVTIIGNLLIILTISSDSHLHTPMYFFLSNLSFADICFTSTTVPKMLVNIQTQSKMITFAGCLTQ +IFFFIAFGCLDNLLLTMTAYDRFVAICYPLHYTVIMNPRLCGLLVLGSWCISVMGSLLETLTILRLSFCTNMEIPHFFCDPSEVLKLACSDTFINNIVMY +FVTIVLGVFPLCGILFSYSQIFSSVLRVSSARGQHKAFSTCGSHLSVVSLFYGTGLGVYLSSAVTPPSRTSLAASVMYTMVTPMLNPFIYSLRNKDMKGS +LGRLLLRATSLKEGTIAKLS* +>line37149 NM_006387 WILDTYPE +MEMPLPPDDQELRNVIDKLAQFVARNGPEFEKMTMEKQKDNPKFSFLFGGEFYSYYKCKLALEQQQLICKQQTPELEPAATMPPLPQPPLAPAAPIPPAQ +GAPSMDELIQQSQWNLQQQEQHLLALRQEQVTAAVAHAVEQQMQKLLEETQLDMNEFDNLLQPIIDTCTKDAISAGKNWMFSNAKSPPHCELMAGHLRNR +ITADGAHFELRLHLIYLINDVLHHCQRKQARELLAALQKVVVPIYCTSFLAVEEDKQQKIARLLQLWEKNGYFDDSIIQQLQSPALGLGQYQATLINEYS +SVVQPVQLAFQQQIQTLKTQHEEFVTSLAQQQQQQQQQQQQLQMPQMEAEVKATPPPPAPPPAPAPAPAIPPTTQPDDSKPPIQMPGSSEYEAPGGVQDP +AAAGPRGPGPHDQIPPNKPPWFDQPHPVAPWGQQQPPEQPPYPHHQGGPPHCPPWNNSHEGMWGEQRGDPGWNGQRDAPWNNQPDAAWNSQFEGPWNSQH +EQPPWGGGQREPPFRMQRPPHFRGPFPPHQQHPQFNQPPHPHNFNRFPPRFMQDDFPPRHPFERPPYPHRFDYPQGDFPAEMGPPHHHPGHRMPHPGINE +HPPWAGPQHPDFGPPPHGFNGQPPHMRRQGPPHINHDDPSLVPNVPYFDLPAGLMAPLVKLEDHEYKPLDPKDIRLPPPMPPSERLLAAVEAFYSPPSHD +RPRNSEGWEQNGLYEFFRAKMRARRRKGQEKRNSGPSRSRSRSKSRGRSSSRSNSRSSKSSGSYSRSRSRSCSRSYSRSRSRSRSRSRSSRSRSRSQSRS +RSKSYSPGRRRRSRSRSPTPPSSAGLGSNSAPPIPDSRLGEENKGHQMLVKMGWSGSGGLGAKEQGIQDPIKGGDVRDKWDQYKGVGVALDDPYENYRRN +KSYSFIARMKARDECK* +>line37149 NM_006387 c.1005_1007del p.Q341del protein-altering (position 341 changed from Q to ) +MEMPLPPDDQELRNVIDKLAQFVARNGPEFEKMTMEKQKDNPKFSFLFGGEFYSYYKCKLALEQQQLICKQQTPELEPAATMPPLPQPPLAPAAPIPPAQ +GAPSMDELIQQSQWNLQQQEQHLLALRQEQVTAAVAHAVEQQMQKLLEETQLDMNEFDNLLQPIIDTCTKDAISAGKNWMFSNAKSPPHCELMAGHLRNR +ITADGAHFELRLHLIYLINDVLHHCQRKQARELLAALQKVVVPIYCTSFLAVEEDKQQKIARLLQLWEKNGYFDDSIIQQLQSPALGLGQYQATLINEYS +SVVQPVQLAFQQQIQTLKTQHEEFVTSLAQQQQQQQQQQQLQMPQMEAEVKATPPPPAPPPAPAPAPAIPPTTQPDDSKPPIQMPGSSEYEAPGGVQDPA +AAGPRGPGPHDQIPPNKPPWFDQPHPVAPWGQQQPPEQPPYPHHQGGPPHCPPWNNSHEGMWGEQRGDPGWNGQRDAPWNNQPDAAWNSQFEGPWNSQHE +QPPWGGGQREPPFRMQRPPHFRGPFPPHQQHPQFNQPPHPHNFNRFPPRFMQDDFPPRHPFERPPYPHRFDYPQGDFPAEMGPPHHHPGHRMPHPGINEH +PPWAGPQHPDFGPPPHGFNGQPPHMRRQGPPHINHDDPSLVPNVPYFDLPAGLMAPLVKLEDHEYKPLDPKDIRLPPPMPPSERLLAAVEAFYSPPSHDR +PRNSEGWEQNGLYEFFRAKMRARRRKGQEKRNSGPSRSRSRSKSRGRSSSRSNSRSSKSSGSYSRSRSRSCSRSYSRSRSRSRSRSRSSRSRSRSQSRSR +SKSYSPGRRRRSRSRSPTPPSSAGLGSNSAPPIPDSRLGEENKGHQMLVKMGWSGSGGLGAKEQGIQDPIKGGDVRDKWDQYKGVGVALDDPYENYRRNK +SYSFIARMKARDECK* +>line37693 NM_001076675 WILDTYPE +MGPLQFRDVAIEFSLEEWHCLDTAQRNLYRNVMLENYSNLVFLGITVSKPDLITCLEQGRKPLTMKRNEMIAKPSVMCSHFAQDLWPEQSMKDSFQKVVL +RRYEKCEHDNLQLKKGCISVDECKVHKEGYNELNQCLTTTPRKICQCDKYVKVLHQFPNSNGQKRGHTGKKPFKYIECGKAFKQFSTLTTHKKIHTGGKP +YKCEECGKAFNHSCSLTRHKKIHTGEKPYKCEECGKAFKHSSTLTTHKRNHTGEKPYKCDKCGKAFMSSSTLSKHEIIHTEKKPYKCEECGKAFNRSSTL +TTHKIIHTGEKPYKCEECDKAFKYSYTLTTHKRIHTEDKPYKCEECGKAFKYSSTLTTHKRIHTGEKPYKCEECGKAFKRSSDLTTHKIIHTGEKPYKCE +ECGKAFKYSSNLTTHKKIHTGERPYKCEECGKAFNQSSILTTHRRIHTGEKFYKCEECGKAFKCSSNLTTHKKIHTGERPYKCEECGKAFNQSSILTTHE +RIILERNSTNVKNVAKPSSGPHTLLHIR* +>line37693 NM_001076675 c.1505dupT p.I503Hfs*94 protein-altering (position 503-528 changed from ILERNSTNVKNVAKPSSGPHTLLHIR to HTGEKFYKCEECGKAFKRSSHLTTHKIIHTGEKFYKCEECDKAFKHFSNLTTHKKIHTGKKPYRCEECGKAFKHSSKLTTHKRFHTGEKPYRCE) +MGPLQFRDVAIEFSLEEWHCLDTAQRNLYRNVMLENYSNLVFLGITVSKPDLITCLEQGRKPLTMKRNEMIAKPSVMCSHFAQDLWPEQSMKDSFQKVVL +RRYEKCEHDNLQLKKGCISVDECKVHKEGYNELNQCLTTTPRKICQCDKYVKVLHQFPNSNGQKRGHTGKKPFKYIECGKAFKQFSTLTTHKKIHTGGKP +YKCEECGKAFNHSCSLTRHKKIHTGEKPYKCEECGKAFKHSSTLTTHKRNHTGEKPYKCDKCGKAFMSSSTLSKHEIIHTEKKPYKCEECGKAFNRSSTL +TTHKIIHTGEKPYKCEECDKAFKYSYTLTTHKRIHTEDKPYKCEECGKAFKYSSTLTTHKRIHTGEKPYKCEECGKAFKRSSDLTTHKIIHTGEKPYKCE +ECGKAFKYSSNLTTHKKIHTGERPYKCEECGKAFNQSSILTTHRRIHTGEKFYKCEECGKAFKCSSNLTTHKKIHTGERPYKCEECGKAFNQSSILTTHE +RIHTGEKFYKCEECGKAFKRSSHLTTHKIIHTGEKFYKCEECDKAFKHFSNLTTHKKIHTGKKPYRCEECGKAFKHSSKLTTHKRFHTGEKPYRCE* +>line37738 NM_182515 WILDTYPE +MNVMLENYKNLVFLAGIAVSKQDPITSLEQEKEPWNMKICEMVDESPAMCSSFTRDLWPEQDIKDSFQQVILRRHGKCEHENLQLRKGSANVVECKVYKK +GYELNQCLTTTQSKIFPCDKYIKVFHKIFNSNRHKTRHTGEKPFKCKKCDESFCMLLHLHQHKRIHIRENSYQCEECDKVFKRFSTLTRHKRVHTGEKPF +KCEECGKAFKHSSTLTTHKMIHTGEKPYRCEECGKAFYHSSHLTTHKVIHTGEKPFKCEECGKAFNHPSALTTHKFIHVKEKPYKCEECDKAFNRFSYLT +KHKIIHSGEKSYKCEQCGKGFNWSSTLTKHKRIHTGEKPYKCEECGKAFNVSSHLTTHKMIHTGEKPYKCEECGKAFNHSSKLTIHKIIHTGEKPYKCEE +CGKAFNQSSNLTKHKIIHTGEKLYKCEECGKAFNRSSNLTTHKRIHTGEKPYKCEECGKAFNRSSNLTKHNIIHTGEKSYKCEECGKAFNQSSTLTKHRK +IQQGMVAHACNPNTLRGLGEQIARSGVQDQPGQHGKTPSLLKIQKFAGCGGRRL* +>line37738 NM_182515 c.304_305insATA p.Y102_E103insN protein-altering (position 102-103 has insertion N) +MNVMLENYKNLVFLAGIAVSKQDPITSLEQEKEPWNMKICEMVDESPAMCSSFTRDLWPEQDIKDSFQQVILRRHGKCEHENLQLRKGSANVVECKVYKK +GYNELNQCLTTTQSKIFPCDKYIKVFHKIFNSNRHKTRHTGEKPFKCKKCDESFCMLLHLHQHKRIHIRENSYQCEECDKVFKRFSTLTRHKRVHTGEKP +FKCEECGKAFKHSSTLTTHKMIHTGEKPYRCEECGKAFYHSSHLTTHKVIHTGEKPFKCEECGKAFNHPSALTTHKFIHVKEKPYKCEECDKAFNRFSYL +TKHKIIHSGEKSYKCEQCGKGFNWSSTLTKHKRIHTGEKPYKCEECGKAFNVSSHLTTHKMIHTGEKPYKCEECGKAFNHSSKLTIHKIIHTGEKPYKCE +ECGKAFNQSSNLTKHKIIHTGEKLYKCEECGKAFNRSSNLTTHKRIHTGEKPYKCEECGKAFNRSSNLTKHNIIHTGEKSYKCEECGKAFNQSSTLTKHR +KIQQGMVAHACNPNTLRGLGEQIARSGVQDQPGQHGKTPSLLKIQKFAGCGGRRL* +>line38435 NM_001252641 WILDTYPE +MTTWSSLQGSHVSKRALAYALVVTNCQERIQHWKKVDNDYNALRERLSTLPDKLSYNIMVPFGPFAFMPGKLVHTNEVTVLLGDNWFAKCSAKQAVGLVE +HRKEHVRKTIDDLKKVMKNFESRVEFTEDLQKMSDAAGDIVDIREEIKCDFEFKAKHRIAHKPHSKPKTSDIFEADIANDVKSKDLLADKELWARLEELE +RQEELLGELDSKPDTVIANGEDTTSSEEEKEDRNTNVNAMHQVTDSHTPCHKDVASSEPFSGQVNSQLNCSVNGSSSYHSDDDDDDDDDDDDDNIDDDDG +DNDHEALGVGDNSIPTIYFSHTVEPKRVRINTGKNTTLKFSEKKEEAKRKRKNSTGSGHSAQELPTIRTPADIYRAFVDVVNGEYVPRKSILKSRSRENS +VCSDTSESSAAEFDDRRGVLRSISCEEATCSDTSESILEEEPQENQKKLLPLSVTPEVLRLVGYSRNLAPLNVIL* +>line38435 NM_001252641 c.840_845del p.D292_D293del protein-altering (position 292-293 changed from DD to ) +MTTWSSLQGSHVSKRALAYALVVTNCQERIQHWKKVDNDYNALRERLSTLPDKLSYNIMVPFGPFAFMPGKLVHTNEVTVLLGDNWFAKCSAKQAVGLVE +HRKEHVRKTIDDLKKVMKNFESRVEFTEDLQKMSDAAGDIVDIREEIKCDFEFKAKHRIAHKPHSKPKTSDIFEADIANDVKSKDLLADKELWARLEELE +RQEELLGELDSKPDTVIANGEDTTSSEEEKEDRNTNVNAMHQVTDSHTPCHKDVASSEPFSGQVNSQLNCSVNGSSSYHSDDDDDDDDDDDNIDDDDGDN +DHEALGVGDNSIPTIYFSHTVEPKRVRINTGKNTTLKFSEKKEEAKRKRKNSTGSGHSAQELPTIRTPADIYRAFVDVVNGEYVPRKSILKSRSRENSVC +SDTSESSAAEFDDRRGVLRSISCEEATCSDTSESILEEEPQENQKKLLPLSVTPEVLRLVGYSRNLAPLNVIL* +>line38752 NM_015925 WILDTYPE +MQQDGLGVGTRNGSGKGRSVHPSWPWCAPRPLRYFGRDARARRAQTAAMALLAGGLSRGLGSHPAAAGRDAVVFVWLLLSTWCTAPARAIQVTVSNPYHV +VILFQPVTLPCTYQMTSTPTQPIVIWKYKSFCRDRIADAFSPASVDNQLNAQLAAGNPGYNPYVECQDSVRTVRVVATKQGNAVTLGDYYQGRRITITGN +ADLTFDQTAWGDSGVYYCSVVSAQDLQGNNEAYAELIVLDWLFVVVVCLAAFLIFLLLGICWCQCCPHTCCCYVRCPCCPDKCCCPEALYAAGKAATSGV +PSIYAPSTYAHLSPAKTPPPPAMIPMGPAYNGYPGGYPGDVDRSSSAGGQGSYVPLLRDTDSSVASEVRSGYRIQASQQDDSMRVLYYMEKELANFDPSR +PGPPSGRVERAMSEVTSLHEDDWRSRPSRGPALTPIRDEEWGGHSPRSPRGWDQEPAREQAGGGWRARRPRARSVDALDDLTPPSTAESGSRSPTSNGGR +SRAYMPPRSRSRDDLYDQDDSRDFPRSRDPHYDDFRSRERPPADPRSHHHRTRDPRDNGSRSGDLPYDGRLLEEAVRKKGSEERRRPHKEEEEEAYYPPA +PPPYSETDSQASRERRLKKNLALSRESLVV* +>line38752 NM_015925 c.1495_1496insGGA p.R500_S501insR protein-altering (position 500-501 has insertion R) +MQQDGLGVGTRNGSGKGRSVHPSWPWCAPRPLRYFGRDARARRAQTAAMALLAGGLSRGLGSHPAAAGRDAVVFVWLLLSTWCTAPARAIQVTVSNPYHV +VILFQPVTLPCTYQMTSTPTQPIVIWKYKSFCRDRIADAFSPASVDNQLNAQLAAGNPGYNPYVECQDSVRTVRVVATKQGNAVTLGDYYQGRRITITGN +ADLTFDQTAWGDSGVYYCSVVSAQDLQGNNEAYAELIVLDWLFVVVVCLAAFLIFLLLGICWCQCCPHTCCCYVRCPCCPDKCCCPEALYAAGKAATSGV +PSIYAPSTYAHLSPAKTPPPPAMIPMGPAYNGYPGGYPGDVDRSSSAGGQGSYVPLLRDTDSSVASEVRSGYRIQASQQDDSMRVLYYMEKELANFDPSR +PGPPSGRVERAMSEVTSLHEDDWRSRPSRGPALTPIRDEEWGGHSPRSPRGWDQEPAREQAGGGWRARRPRARSVDALDDLTPPSTAESGSRSPTSNGGR +RSRAYMPPRSRSRDDLYDQDDSRDFPRSRDPHYDDFRSRERPPADPRSHHHRTRDPRDNGSRSGDLPYDGRLLEEAVRKKGSEERRRPHKEEEEEAYYPP +APPPYSETDSQASRERRLKKNLALSRESLVV* +>line38835 NM_001172630 WILDTYPE +MLVPLLLQYLETLSGLVDSNLNCGPVLTWMELDNHGRRLLLSEEASLNIPAVAAAHVIKRYTAQAPDELSFEVGDIVSVIDMPPTEDRSWWRGKRGFQVG +FFPSECVELFTERPGPGLKADADGPPCGIPAPQGISSLTSAVPRPRGKLAGLLRTFMRSRPSRQRLRQRGILRQRVFGCDLGEHLSNSGQDVPQVLRCCS +EFIEAHGVVDGIYRLSGVSSNIQRLRHEFDSERIPELSGPAFLQDIHSVSSLCKLYFRELPNPLLTYQLYGKFSEAMSVPGEEERLVRVHDVIQQLPPPH +YRTLEYLLRHLARMARHSANTSMHARNLAIVWAPNLLRSMELESVGMGGAAAFREVRVQSVVVEFLLTHVDVLFSDTFTSAGLDPAGRCLLPRPKSLAGS +CPSTRLLTLEEAQARTQGRLGTPTEPTTPKAPASPAERRKGERGEKQRKPGGSSWKTFFALGRGPSVPRKKPLPWLGGTRAPPQPSGSRPDTVTLRSAKS +EESLSSQASGAGLQRLHRLRRPHSSSDAFPVGPAPAGSCESLSSSSSSESSSSESSSSSSESSAAGLGALSGSPSHRTSAWLDDGDELDFSPPRCLEGLR +GLDFDPLTFRCSSPTPGDPAPPASPAPPAPASAFPPRVTPQAISPRGPTSPASPAALDISEPLAVSVPPAVLELLGAGGAPASATPTPALSPGRSLRPHL +IPLLLRGAEAPLTDACQQEMCSKLRGAQGPLGPDMESPLPPPPLSLLRPGGAPPPPPKNPARLMALALAERAQQVAEQQSQQECGGTPPASQSPFHRSLS +LEVGGEPLGTSGSGPPPNSLAHPGAWVPGPPPYLPRQQSDGSLLRSQRPMGTSRRGLRGPAQVPTPGFFSPAPRECLPPFLGVPKPGLYPLGPPSFQPSS +PAPVWRSSLGPPAPLDRGENLYYEIGASEGSPYSGPTRSWSPFRSMPPDRLNASYGMLGQSPPLHRSPDFLLSYPPAPSCFPPDHLGYSAPQHPARRPTP +PEPLYVNLALGPRGPSPASSSSSSPPAHPRSRSDPGPPVPRLPQKQRAPWGPRTPHRVPGPWGPPEPLLLYRAAPPAYGRGGELHRGSLYRNGGQRGEGA +GPPPPYPTPSWSLHSEGQTRSYC* +>line38835 NM_001172630 c.1632_1646del p.E554_S558del protein-altering (position 554-558 changed from ESSSS to ) +MLVPLLLQYLETLSGLVDSNLNCGPVLTWMELDNHGRRLLLSEEASLNIPAVAAAHVIKRYTAQAPDELSFEVGDIVSVIDMPPTEDRSWWRGKRGFQVG +FFPSECVELFTERPGPGLKADADGPPCGIPAPQGISSLTSAVPRPRGKLAGLLRTFMRSRPSRQRLRQRGILRQRVFGCDLGEHLSNSGQDVPQVLRCCS +EFIEAHGVVDGIYRLSGVSSNIQRLRHEFDSERIPELSGPAFLQDIHSVSSLCKLYFRELPNPLLTYQLYGKFSEAMSVPGEEERLVRVHDVIQQLPPPH +YRTLEYLLRHLARMARHSANTSMHARNLAIVWAPNLLRSMELESVGMGGAAAFREVRVQSVVVEFLLTHVDVLFSDTFTSAGLDPAGRCLLPRPKSLAGS +CPSTRLLTLEEAQARTQGRLGTPTEPTTPKAPASPAERRKGERGEKQRKPGGSSWKTFFALGRGPSVPRKKPLPWLGGTRAPPQPSGSRPDTVTLRSAKS +EESLSSQASGAGLQRLHRLRRPHSSSDAFPVGPAPAGSCESLSSSSSSESSSSSSESSAAGLGALSGSPSHRTSAWLDDGDELDFSPPRCLEGLRGLDFD +PLTFRCSSPTPGDPAPPASPAPPAPASAFPPRVTPQAISPRGPTSPASPAALDISEPLAVSVPPAVLELLGAGGAPASATPTPALSPGRSLRPHLIPLLL +RGAEAPLTDACQQEMCSKLRGAQGPLGPDMESPLPPPPLSLLRPGGAPPPPPKNPARLMALALAERAQQVAEQQSQQECGGTPPASQSPFHRSLSLEVGG +EPLGTSGSGPPPNSLAHPGAWVPGPPPYLPRQQSDGSLLRSQRPMGTSRRGLRGPAQVPTPGFFSPAPRECLPPFLGVPKPGLYPLGPPSFQPSSPAPVW +RSSLGPPAPLDRGENLYYEIGASEGSPYSGPTRSWSPFRSMPPDRLNASYGMLGQSPPLHRSPDFLLSYPPAPSCFPPDHLGYSAPQHPARRPTPPEPLY +VNLALGPRGPSPASSSSSSPPAHPRSRSDPGPPVPRLPQKQRAPWGPRTPHRVPGPWGPPEPLLLYRAAPPAYGRGGELHRGSLYRNGGQRGEGAGPPPP +YPTPSWSLHSEGQTRSYC* +>line39030 NM_001172677 WILDTYPE +MSYGSITFGDVAIDFSHQEWEYLSLVQKTLYQEVMMENYDNLVSLGHSVSKPDLITLLEQGKEPWMIVREETRGECTDLDSRCEIISDGKMQLYRKHSCV +TLHQRIHNGQKPYECKQCQKSFSHLTELMVHQTIHTSEEPDQCEKFRKAFSHLTDLRKHQKINAREKPYECEECGKVFSYPANLAQHGKVHVEKPYECKE +CGEAFRTSRQLTVHHRFHYGEKPYECKECGKAFSVYGRLSRHQSIHTGEKPFECNKCGKSFRLKAGLKVHQSIHTGEKPHECKECGKAFRQFSHLVGHKR +IHTGEKPYECKECGKGFTCRYQLTMHQRIYSGEKHYECKENGEAFSSGHQLTAPHTFESVEKPYKCEECGKAFSVHGRLTRHQGIHSGKKPYECNKCGKS +FRLNSSLKIHQNIHTGEKPYKCKECGKAFSQRAHLAHHNRIHTGYKPFECKECGKSFRCASYLVIHERIHTGEKPYVCQECGKGFSYSHKLTIHRRVHTG +EKPYECKECGKAFSVSGQLTQHLSIHSGKKPFECNKCGKSFRFISVLKAHQNIHSAEKPYECKECGKAFRHATSLIYHDRTHAGEKSYECKECGETFSHA +SHLIIHERIHTSDKPYECKRCGKAFHCASYLVRHESVHADGNPYMCEECGKAFNSSHELSIHHRVHTGEKPFKCNKCRRSFRLRSILEVHQRIHI* +>line39030 NM_001172677 c.4_5GT p.S2V protein-altering (position 2 changed from S to V) +MVYGSITFGDVAIDFSHQEWEYLSLVQKTLYQEVMMENYDNLVSLGHSVSKPDLITLLEQGKEPWMIVREETRGECTDLDSRCEIISDGKMQLYRKHSCV +TLHQRIHNGQKPYECKQCQKSFSHLTELMVHQTIHTSEEPDQCEKFRKAFSHLTDLRKHQKINAREKPYECEECGKVFSYPANLAQHGKVHVEKPYECKE +CGEAFRTSRQLTVHHRFHYGEKPYECKECGKAFSVYGRLSRHQSIHTGEKPFECNKCGKSFRLKAGLKVHQSIHTGEKPHECKECGKAFRQFSHLVGHKR +IHTGEKPYECKECGKGFTCRYQLTMHQRIYSGEKHYECKENGEAFSSGHQLTAPHTFESVEKPYKCEECGKAFSVHGRLTRHQGIHSGKKPYECNKCGKS +FRLNSSLKIHQNIHTGEKPYKCKECGKAFSQRAHLAHHNRIHTGYKPFECKECGKSFRCASYLVIHERIHTGEKPYVCQECGKGFSYSHKLTIHRRVHTG +EKPYECKECGKAFSVSGQLTQHLSIHSGKKPFECNKCGKSFRFISVLKAHQNIHSAEKPYECKECGKAFRHATSLIYHDRTHAGEKSYECKECGETFSHA +SHLIIHERIHTSDKPYECKRCGKAFHCASYLVRHESVHADGNPYMCEECGKAFNSSHELSIHHRVHTGEKPFKCNKCRRSFRLRSILEVHQRIHI* +>line39303 NM_003890 WILDTYPE +MGALWSWWILWAGATLLWGLTQEASVDLKNTGREEFLTAFLQNYQLAYSKAYPRLLISSLSESPASVSILSQADNTSKKVTVRPGESVMVNISAKAEMIG +SKIFQHAVVIHSDYAISVQALNAKPDTAELTLLRPIQALGTEYFVLTPPGTSARNVKEFAVVAGAAGASVSVTLKGSVTFNGKFYPAGDVLRVTLQPYNV +AQLQSSVDLSGSKVTASSPVAVLSGHSCAQKHTTCNHVVEQLLPTSAWGTHYVVPTLASQSRYDLAFVVASQATKLTYNHGGITGSRGLQAGDVVEFEVR +PSWPLYLSANVGIQVLLFGTGAIRNEVTYDPYLVLIPDVAAYCPAYVVKSVPGCEGVALVVAQTKAISGLTIDGHAVGAKLTWEAVPGSEFSYAEVELGT +ADMIHTAEATTNLGLLTFGLAKAIGYATAADCGRTVLSPVEPSCEGMQCAAGQRCQVVGGKAGCVAESTAVCRAQGDPHYTTFDGRRYDMMGTCSYTMVE +LCSEDDTLPAFSVEAKNEHRGSRRVSYVGLVTVRAYSHSVSLTRGEVGFVLVDNQRSRLPVSLSEGRLRVYQSGPRAVVELVFGLVVTYDWDCQLALSLP +ARFQDQVCGLCGNYNGDPADDFLTPDGALAPDAVEFASSWKLDDGDYLCEDGCQNNCPACTPGQAQHYEGDRLCGMLTKLDGPFAVCHDTLDPRPFLEQC +VYDLCVVGGERLSLCRGLSAYAQACLELGISVGDWRSPANCPLSCPANSRYELCGPACPTSCNGAAAPSNCSGRPCVEGCVCLPGFVASGGACVPASSCG +CTFQGLQLAPGQEVWADELCQRRCTCNGATHQVTCRDKQSCPAGERCSVQNGLLGCYPDRFGTCQGSGDPHYVSFDGRRFDFMGTCTYLLVGSCGQNAAL +PAFRVLVENEHRGSQTVSYTRAVRVEARGVKVAVRREYPGQVLVDDVLQYLPFQAADGQVQVFRQGRDAVVRTDFGLTVTYDWNARVTAKVPSSYAEALC +GLCGNFNGDPADDLALRGGGQAANALAFGNSWQEETRPGCGATEPGDCPKLDSLVAQQLQSKNECGILADPKGPFRECHSKLDPQGAVRDCVYDRCLLPG +QSGPLCDALATYAAACQAAGATVHPWRSEELCPLSCPPHSHYEACSYGCPLSCGDLPVPGGCGSECHEGCVCDEGFALSGESCLPLASCGCVHQGTYHPP +GQTFYPGPGCDSLCHCQEGGLVSCESSSCGPHEACQPSGGSLGCVAVGSSTCQASGDPHYTTFDGRRFDFMGTCVYVLAQTCGTRPGLHRFAVLQENVAW +GNGRVSVTRVITVQVANFTLRLEQRQWKVTVNGVDMKLPVVLANGQIRASQHGSDVVIETDFGLRVAYDLVYYVRVTVPGNYYQQMCGLCGNYNGDPKDD +FQKPNGSQAGNANEFGNSWEEVVPDSPCLPPTPCPPGSEDCIPSHKCPPELEKKYQKEEFCGLLSSPTGPLSSCHKLVDPQGPLKDCIFDLCLGGGNLSI +LCSNIHAYVSACQAAGGHVEPWRTETFCPMECPPNSHYELCADTCSLGCSALSAPPQCQDGCAEGCQCDSGFLYNGQACVPIQQCGCYHNGVYYEPEQTV +LIDNCRQQCTCHAGKGMVCQEHSCKPGQVCQPSGGILSCVTKDPCHGVTCRPQETCKEQGGQGVCLPNYEATCWLWGDPHYHSFDGRKFDFQGTCNYVLA +TTGCPGVSTQGLTPFTVTTKNQNRGNPAVSYVRVVTVAALGTNISIHKDEIGKVRVNGVLTALPVSVADGRISVTQGASKALLVADFGLQVSYDWNWRVD +VTLPSSYHGAVCGLCGNMDRNPNNDQVFPNGTLAPSIPIWGGSWRAPGWDPLCWDECRGSCPTCPEDRLEQYEGPGFCGPLAPGTGGPFTTCHAHVPPES +FFKGCVLDVCMGGGDRDILCKALASYVAACQAAGVVIEDWRAQVGCEITCPENSHYEVCGSPCPASCPSPAPLTTPAVCEGPCVEGCQCDAGFVLSADRC +VPLNNGCGCWANGTYHEAGSEFWADGTCSQWCRCGPGGGSLVCTPASCGLGEVCGLLPSGQHGCQPVSTAECQAWGDPHYVTLDGHRFNFQGTCEYLLSA +PCHGPPLGAENFTVTVANEHRGSQAVSYTRSVTLQIYNHSLTLSARWPRKLQVDGVFVTLPFQLDSLLHAHLSGADVVVTTTSGLSLAFDGDSFVRLRVP +AAYAGSLCGLCGNYNQDPADDLKAVGGKPAGWQVGGAQGCGECVSKPCPSPCTPEQQESFGGPDACGVISATDGPLAPCHGLVPPAQYFQGCLLDACQVQ +GHPGGLCPAVATYVAACQAAGAQLREWRRPDFCPFQCPAHSHYELCGDSCPGSCPSLSAPEGCESACREGCVCDAGFVLSGDTCVPVGQCGCLHDDRYYP +LGQTFYPGPGCDSLCRCREGGEVSCEPSSCGPHETCRPSGGSLGCVAVGSTTCQASGDPHYTTFDGRRFDFMGTCVYVLAQTCGTRPGLHRFAVLQENVA +WGNGRVSVTRVITVQVANFTLRLEQRQWKVTVNGVDMKLPVVLANGQIRASQHGSDVVIETDFGLRVAYDLVYYVRVTVPGNYYQLMCGLCGNYNGDPKD +DFQKPNGSQAGNANEFGNSWEEVVPDSPCLPPPTCPPGSEGCIPSEECPPELEKKYQKEEFCGLLSSPTGPLSSCHKLVDPQGPLKDCIFDLCLGGGNLS +ILCSNIHAYVSACQAAGGQVEPWRNETFCPMECPQNSHYELCADTCSLGCSALSAPLQCPDGCAEGCQCDSGFLYNGQACVPIQQCGCYHNGAYYEPEQT +VLIDNCRQQCTCHVGKVVVCQEHSCKPGQVCQPSGGILSCVNKDPCHGVTCRPQETCKEQGGQGVCLPNYEATCWLWGDPHYHSFDGRKFDFQGTCNYVL +ATTGCPGVSTQGLTPFTVTTKNQNRGNPAVSYVRVVTVAALGTNISIHKDEIGKVRVNGVLTALPVSVADGRISVTQGASKALLVADFGLQVSYDWNWRV +DVTLPSSYHGAVCGLCGNMDRNPNNDQVFPNGTLAPSIPIWGGSWRAPGWDPLCWDECRGSCPTCPEDRLEQYEGPGFCGPLAPGTGGPFTTCHAHVPPE +SFFKGCVLDVCMGGGDRDILCKALASYVAACQAAGVVIEDWRAQVGCEITCPENSHYEVCGPPCPASCPSPAPLTTPAVCEGPCVEGCQCDAGFVLSADR +CVPLNNGCGCWANGTYHEAGSEFWADGTCSQWCRCGPGGGSLVCTPASCGLGEVCGLLPSGQHGCQPVSTAECQAWGDPHYVTLDGHRFDFQGTCEYLLS +APCHGPPLGAENFTVTVANEHRGSQAVSYTRSVTLQIYNHSLTLSARWPRKLQVDGVFVTLPFQLDSLLHAHLSGADVVVTTTSGLSLAFDGDSFVRLRV +PAAYAGSLCGLCGNYNQDPADDLKAVGGKPAGWQVGGAQGCGECVSKPCPSPCTPEQQESFGGPDACGVISATDGPLAPCHGLVPPAQYFQGCLLDACQV +QGHPGGLCPAVATYVAACQAAGAQLREWRRPDFCPFQCPAHSHYELCGDSCPGSCPSLSAPEGCESACREGCVCDAGFVLSGDTCVPVGQCGCLHDDRYY +PLGQTFYPGPGCDSLCRCREGGEVSCEPSSCGPHETCRPSGGSLGCVAVGSTTCQASGDPHYTTFDGHRFDFMGTCVYVLAQTCGTRPGLHRFAVLQENV +AWGNGRVSVTRVITVQVANFTLRLEQRQWKVTVNGVDMKLPVVLANGQIRASQHGSDVVIETDFGLRVAYDLVYYVRVTVPGNYYQLMCGLCGNYNGDPK +DDFQKPNGSQAGNANEFGNSWEEVVPDSPCLPPPTCPPGSAGCIPSDKCPPELEKKYQKEEFCGLLSSPTGPLSSCHKLVDPQGPLKDCIFDLCLGGGNL +SILCSNIHAYVSACQAAGGHVEPWRNETFCPMECPQNSHYELCADTCSLGCSALSAPLQCPDGCAEGCQCDSGFLYNGQACVPIQQCGCYHNGVYYEPEQ +TVLIDNCRQQCTCHVGKVVVCQEHSCKPGQVCQPSGGILSCVTKDPCHGVTCRPQETCKEQGGQGVCLPNYEATCWLWGDPHYHSFDGRKFDFQGTCNYV +LATTGCPGVSTQGLTPFTVTTKNQNRGNPAVSYVRVVTVAALGTNISIHKDEIGKVRVNGVLTALPVSVADGRISVAQGASKALLVADFGLQVSYDWNWR +VDVTLPSSYHGAVCGLCGNMDRNPNNDQVFPNGTLAPSIPIWGGSWRAPGWDPLCWDECRGSCPTCPEDRLEQYEGPGFCGPLSSGTGGPFTTCHAHVPP +ESFFKGCVLDVCMGGGDRDILCKALASYVAACQAAGVVIEDWRAQVGCEITCPENSHYEVCGPPCPASCPSPAPLTTPAVCEGPCVEGCQCDAGFVLSAD +RCVPLNNGCGCWANGTYHEAGSEFWADGTCSQWCRCGPGGGSLVCTPASCGLGEVCGLLPSGQHGCQPVSTAECQAWGDPHYVTLDGHRFDFQGTCEYLL +SAPCHGPPLGAENFTVTVANEHRGSQAVSYTRSVTLQIYNHSLTLSARWPRKLQVDGVFVALPFQLDSLLHAHLSGADVVVTTTSGLSLAFDGDSFVRLR +VPAAYAASLCGLCGNYNQDPADDLKAVGGKPAGWQVGGAQGCGECVSKPCPSPCTPEQQESFGGPDACGVISATDGPLAPCHGLVPPAQYFQGCLLDACQ +VQGHPGGLCPAVATYVAACQAAGAQLGEWRRPDFCPLQCPAHSHYELCGDSCPVSCPSLSAPEGCESACREGCVCDAGFVLSGDTCVPVGQCGCLHDGRY +YPLGEVFYPGPECERRCECGPGGHVTCQEGAACGPHEECRLEDGVQACHATGCGRCLANGGIHYITLDGRVYDLHGSCSYVLAQVCHPKPGDEDFSIVLE +KNAAGDLQRLLVTVAGQVVSLAQGQQVTVDGEAVALPVAVGRVRVTAEGRNMVLQTTKGLRLLFDGDAHLLMSIPSPFRGRLCGLCGNFNGNWSDDFVLP +NGSAASSVETFGAAWRAPGSSKGCGEGCGPQGCPVCLAEETAPYESNEACGQLRNPQGPFATCQAVLSPSEYFRQCVYDLCAQKGDKAFLCRSLAAYTAA +CQAAGVAVKPWRTDSFCPLHCPAHSHYSICTRTCQGSCAALSGLTGCTTRCFEGCECDDRFLLSQGVCIPVQDCGCTHNGRYLPVNSSLLTSDCSERCSC +SSSSGLTCQAAGCPPGRVCEVKAEARNCWATRGLCVLSVGANLTTFDGARGATTSPGVYELSSRCPGLQNTIPWYRVVAEVQICHGKTEAVGQVHIFFQD +GMVTLTPNKGVWVNGLRVDLPAEKLASVSVSRTPDGSLLVRQKAGVQVWLGANGKVAVIVSNDHAGKLCGACGNFDGDQTNDWHDSQEKPAMEKWRAQDF +SPCYG* +>line39303 NM_003890 c.12849_12850GG p.S4284A protein-altering (position 4284 changed from S to A) +MGALWSWWILWAGATLLWGLTQEASVDLKNTGREEFLTAFLQNYQLAYSKAYPRLLISSLSESPASVSILSQADNTSKKVTVRPGESVMVNISAKAEMIG +SKIFQHAVVIHSDYAISVQALNAKPDTAELTLLRPIQALGTEYFVLTPPGTSARNVKEFAVVAGAAGASVSVTLKGSVTFNGKFYPAGDVLRVTLQPYNV +AQLQSSVDLSGSKVTASSPVAVLSGHSCAQKHTTCNHVVEQLLPTSAWGTHYVVPTLASQSRYDLAFVVASQATKLTYNHGGITGSRGLQAGDVVEFEVR +PSWPLYLSANVGIQVLLFGTGAIRNEVTYDPYLVLIPDVAAYCPAYVVKSVPGCEGVALVVAQTKAISGLTIDGHAVGAKLTWEAVPGSEFSYAEVELGT +ADMIHTAEATTNLGLLTFGLAKAIGYATAADCGRTVLSPVEPSCEGMQCAAGQRCQVVGGKAGCVAESTAVCRAQGDPHYTTFDGRRYDMMGTCSYTMVE +LCSEDDTLPAFSVEAKNEHRGSRRVSYVGLVTVRAYSHSVSLTRGEVGFVLVDNQRSRLPVSLSEGRLRVYQSGPRAVVELVFGLVVTYDWDCQLALSLP +ARFQDQVCGLCGNYNGDPADDFLTPDGALAPDAVEFASSWKLDDGDYLCEDGCQNNCPACTPGQAQHYEGDRLCGMLTKLDGPFAVCHDTLDPRPFLEQC +VYDLCVVGGERLSLCRGLSAYAQACLELGISVGDWRSPANCPLSCPANSRYELCGPACPTSCNGAAAPSNCSGRPCVEGCVCLPGFVASGGACVPASSCG +CTFQGLQLAPGQEVWADELCQRRCTCNGATHQVTCRDKQSCPAGERCSVQNGLLGCYPDRFGTCQGSGDPHYVSFDGRRFDFMGTCTYLLVGSCGQNAAL +PAFRVLVENEHRGSQTVSYTRAVRVEARGVKVAVRREYPGQVLVDDVLQYLPFQAADGQVQVFRQGRDAVVRTDFGLTVTYDWNARVTAKVPSSYAEALC +GLCGNFNGDPADDLALRGGGQAANALAFGNSWQEETRPGCGATEPGDCPKLDSLVAQQLQSKNECGILADPKGPFRECHSKLDPQGAVRDCVYDRCLLPG +QSGPLCDALATYAAACQAAGATVHPWRSEELCPLSCPPHSHYEACSYGCPLSCGDLPVPGGCGSECHEGCVCDEGFALSGESCLPLASCGCVHQGTYHPP +GQTFYPGPGCDSLCHCQEGGLVSCESSSCGPHEACQPSGGSLGCVAVGSSTCQASGDPHYTTFDGRRFDFMGTCVYVLAQTCGTRPGLHRFAVLQENVAW +GNGRVSVTRVITVQVANFTLRLEQRQWKVTVNGVDMKLPVVLANGQIRASQHGSDVVIETDFGLRVAYDLVYYVRVTVPGNYYQQMCGLCGNYNGDPKDD +FQKPNGSQAGNANEFGNSWEEVVPDSPCLPPTPCPPGSEDCIPSHKCPPELEKKYQKEEFCGLLSSPTGPLSSCHKLVDPQGPLKDCIFDLCLGGGNLSI +LCSNIHAYVSACQAAGGHVEPWRTETFCPMECPPNSHYELCADTCSLGCSALSAPPQCQDGCAEGCQCDSGFLYNGQACVPIQQCGCYHNGVYYEPEQTV +LIDNCRQQCTCHAGKGMVCQEHSCKPGQVCQPSGGILSCVTKDPCHGVTCRPQETCKEQGGQGVCLPNYEATCWLWGDPHYHSFDGRKFDFQGTCNYVLA +TTGCPGVSTQGLTPFTVTTKNQNRGNPAVSYVRVVTVAALGTNISIHKDEIGKVRVNGVLTALPVSVADGRISVTQGASKALLVADFGLQVSYDWNWRVD +VTLPSSYHGAVCGLCGNMDRNPNNDQVFPNGTLAPSIPIWGGSWRAPGWDPLCWDECRGSCPTCPEDRLEQYEGPGFCGPLAPGTGGPFTTCHAHVPPES +FFKGCVLDVCMGGGDRDILCKALASYVAACQAAGVVIEDWRAQVGCEITCPENSHYEVCGSPCPASCPSPAPLTTPAVCEGPCVEGCQCDAGFVLSADRC +VPLNNGCGCWANGTYHEAGSEFWADGTCSQWCRCGPGGGSLVCTPASCGLGEVCGLLPSGQHGCQPVSTAECQAWGDPHYVTLDGHRFNFQGTCEYLLSA +PCHGPPLGAENFTVTVANEHRGSQAVSYTRSVTLQIYNHSLTLSARWPRKLQVDGVFVTLPFQLDSLLHAHLSGADVVVTTTSGLSLAFDGDSFVRLRVP +AAYAGSLCGLCGNYNQDPADDLKAVGGKPAGWQVGGAQGCGECVSKPCPSPCTPEQQESFGGPDACGVISATDGPLAPCHGLVPPAQYFQGCLLDACQVQ +GHPGGLCPAVATYVAACQAAGAQLREWRRPDFCPFQCPAHSHYELCGDSCPGSCPSLSAPEGCESACREGCVCDAGFVLSGDTCVPVGQCGCLHDDRYYP +LGQTFYPGPGCDSLCRCREGGEVSCEPSSCGPHETCRPSGGSLGCVAVGSTTCQASGDPHYTTFDGRRFDFMGTCVYVLAQTCGTRPGLHRFAVLQENVA +WGNGRVSVTRVITVQVANFTLRLEQRQWKVTVNGVDMKLPVVLANGQIRASQHGSDVVIETDFGLRVAYDLVYYVRVTVPGNYYQLMCGLCGNYNGDPKD +DFQKPNGSQAGNANEFGNSWEEVVPDSPCLPPPTCPPGSEGCIPSEECPPELEKKYQKEEFCGLLSSPTGPLSSCHKLVDPQGPLKDCIFDLCLGGGNLS +ILCSNIHAYVSACQAAGGQVEPWRNETFCPMECPQNSHYELCADTCSLGCSALSAPLQCPDGCAEGCQCDSGFLYNGQACVPIQQCGCYHNGAYYEPEQT +VLIDNCRQQCTCHVGKVVVCQEHSCKPGQVCQPSGGILSCVNKDPCHGVTCRPQETCKEQGGQGVCLPNYEATCWLWGDPHYHSFDGRKFDFQGTCNYVL +ATTGCPGVSTQGLTPFTVTTKNQNRGNPAVSYVRVVTVAALGTNISIHKDEIGKVRVNGVLTALPVSVADGRISVTQGASKALLVADFGLQVSYDWNWRV +DVTLPSSYHGAVCGLCGNMDRNPNNDQVFPNGTLAPSIPIWGGSWRAPGWDPLCWDECRGSCPTCPEDRLEQYEGPGFCGPLAPGTGGPFTTCHAHVPPE +SFFKGCVLDVCMGGGDRDILCKALASYVAACQAAGVVIEDWRAQVGCEITCPENSHYEVCGPPCPASCPSPAPLTTPAVCEGPCVEGCQCDAGFVLSADR +CVPLNNGCGCWANGTYHEAGSEFWADGTCSQWCRCGPGGGSLVCTPASCGLGEVCGLLPSGQHGCQPVSTAECQAWGDPHYVTLDGHRFDFQGTCEYLLS +APCHGPPLGAENFTVTVANEHRGSQAVSYTRSVTLQIYNHSLTLSARWPRKLQVDGVFVTLPFQLDSLLHAHLSGADVVVTTTSGLSLAFDGDSFVRLRV +PAAYAGSLCGLCGNYNQDPADDLKAVGGKPAGWQVGGAQGCGECVSKPCPSPCTPEQQESFGGPDACGVISATDGPLAPCHGLVPPAQYFQGCLLDACQV +QGHPGGLCPAVATYVAACQAAGAQLREWRRPDFCPFQCPAHSHYELCGDSCPGSCPSLSAPEGCESACREGCVCDAGFVLSGDTCVPVGQCGCLHDDRYY +PLGQTFYPGPGCDSLCRCREGGEVSCEPSSCGPHETCRPSGGSLGCVAVGSTTCQASGDPHYTTFDGHRFDFMGTCVYVLAQTCGTRPGLHRFAVLQENV +AWGNGRVSVTRVITVQVANFTLRLEQRQWKVTVNGVDMKLPVVLANGQIRASQHGSDVVIETDFGLRVAYDLVYYVRVTVPGNYYQLMCGLCGNYNGDPK +DDFQKPNGSQAGNANEFGNSWEEVVPDSPCLPPPTCPPGSAGCIPSDKCPPELEKKYQKEEFCGLLSSPTGPLSSCHKLVDPQGPLKDCIFDLCLGGGNL +SILCSNIHAYVSACQAAGGHVEPWRNETFCPMECPQNSHYELCADTCSLGCSALSAPLQCPDGCAEGCQCDSGFLYNGQACVPIQQCGCYHNGVYYEPEQ +TVLIDNCRQQCTCHVGKVVVCQEHSCKPGQVCQPSGGILSCVTKDPCHGVTCRPQETCKEQGGQGVCLPNYEATCWLWGDPHYHSFDGRKFDFQGTCNYV +LATTGCPGVSTQGLTPFTVTTKNQNRGNPAVSYVRVVTVAALGTNISIHKDEIGKVRVNGVLTALPVSVADGRISVAQGASKALLVADFGLQVSYDWNWR +VDVTLPSSYHGAVCGLCGNMDRNPNNDQVFPNGTLAPSIPIWGGSWRAPGWDPLCWDECRGSCPTCPEDRLEQYEGPGFCGPLASGTGGPFTTCHAHVPP +ESFFKGCVLDVCMGGGDRDILCKALASYVAACQAAGVVIEDWRAQVGCEITCPENSHYEVCGPPCPASCPSPAPLTTPAVCEGPCVEGCQCDAGFVLSAD +RCVPLNNGCGCWANGTYHEAGSEFWADGTCSQWCRCGPGGGSLVCTPASCGLGEVCGLLPSGQHGCQPVSTAECQAWGDPHYVTLDGHRFDFQGTCEYLL +SAPCHGPPLGAENFTVTVANEHRGSQAVSYTRSVTLQIYNHSLTLSARWPRKLQVDGVFVALPFQLDSLLHAHLSGADVVVTTTSGLSLAFDGDSFVRLR +VPAAYAASLCGLCGNYNQDPADDLKAVGGKPAGWQVGGAQGCGECVSKPCPSPCTPEQQESFGGPDACGVISATDGPLAPCHGLVPPAQYFQGCLLDACQ +VQGHPGGLCPAVATYVAACQAAGAQLGEWRRPDFCPLQCPAHSHYELCGDSCPVSCPSLSAPEGCESACREGCVCDAGFVLSGDTCVPVGQCGCLHDGRY +YPLGEVFYPGPECERRCECGPGGHVTCQEGAACGPHEECRLEDGVQACHATGCGRCLANGGIHYITLDGRVYDLHGSCSYVLAQVCHPKPGDEDFSIVLE +KNAAGDLQRLLVTVAGQVVSLAQGQQVTVDGEAVALPVAVGRVRVTAEGRNMVLQTTKGLRLLFDGDAHLLMSIPSPFRGRLCGLCGNFNGNWSDDFVLP +NGSAASSVETFGAAWRAPGSSKGCGEGCGPQGCPVCLAEETAPYESNEACGQLRNPQGPFATCQAVLSPSEYFRQCVYDLCAQKGDKAFLCRSLAAYTAA +CQAAGVAVKPWRTDSFCPLHCPAHSHYSICTRTCQGSCAALSGLTGCTTRCFEGCECDDRFLLSQGVCIPVQDCGCTHNGRYLPVNSSLLTSDCSERCSC +SSSSGLTCQAAGCPPGRVCEVKAEARNCWATRGLCVLSVGANLTTFDGARGATTSPGVYELSSRCPGLQNTIPWYRVVAEVQICHGKTEAVGQVHIFFQD +GMVTLTPNKGVWVNGLRVDLPAEKLASVSVSRTPDGSLLVRQKAGVQVWLGANGKVAVIVSNDHAGKLCGACGNFDGDQTNDWHDSQEKPAMEKWRAQDF +SPCYG* +>line39360 NM_004756 WILDTYPE +MSRSAAASGGPRRPERHLPPAPCGAPGPPETCRTEPDGAGTMNKLRQSLRRRKPAYVPEASRPHQWQADEDAVRKGTCSFPVRYLGHVEVEESRGMHVCE +DAVKKLKAMGRKSVKSVLWVSADGLRVVDDKTKDLLVDQTIEKVSFCAPDRNLDKAFSYICRDGTTRRWICHCFLALKDSGERLSHAVGCAFAACLERKQ +RREKECGVTAAFDASRTSFAREGSFRLSGGGRPAEREAPDKKKAEAAAAPTVAPGPAQPGHVSPTPATTSPGEKGEAGTPVAAGTTAAAIPRRHAPLEQL +VRQGSFRGFPALSQKNSPFKRQLSLRLNELPSTLQRRTDFQVKGTVPEMEPPGAGDSDSINALCTQISSSFASAGAPAPGPPPATTGTSAWGEPSVPPAA +AFQPGHKRTPSEAERWLEEVSQVAKAQQQQQQQQQQQQQQQQQQQQAASVAPVPTMPPALQPFPAPVGPFDAAPAQVAVFLPPPHMQPPFVPAYPGLGYP +PMPRVPVVGITPSQMVANAFCSAAQLQPQPATLLGKAGAFPPPAIPSAPGSQARPRPNGAPWPPEPAPAPAPELDPFEAQWAALEGKATVEKPSNPFSGD +LQKTFEIEL* +>line39360 NM_004756 c.1305_1310del p.Q445_Q446del protein-altering (position 445-446 changed from QQ to ) +MSRSAAASGGPRRPERHLPPAPCGAPGPPETCRTEPDGAGTMNKLRQSLRRRKPAYVPEASRPHQWQADEDAVRKGTCSFPVRYLGHVEVEESRGMHVCE +DAVKKLKAMGRKSVKSVLWVSADGLRVVDDKTKDLLVDQTIEKVSFCAPDRNLDKAFSYICRDGTTRRWICHCFLALKDSGERLSHAVGCAFAACLERKQ +RREKECGVTAAFDASRTSFAREGSFRLSGGGRPAEREAPDKKKAEAAAAPTVAPGPAQPGHVSPTPATTSPGEKGEAGTPVAAGTTAAAIPRRHAPLEQL +VRQGSFRGFPALSQKNSPFKRQLSLRLNELPSTLQRRTDFQVKGTVPEMEPPGAGDSDSINALCTQISSSFASAGAPAPGPPPATTGTSAWGEPSVPPAA +AFQPGHKRTPSEAERWLEEVSQVAKAQQQQQQQQQQQQQQQQQQAASVAPVPTMPPALQPFPAPVGPFDAAPAQVAVFLPPPHMQPPFVPAYPGLGYPPM +PRVPVVGITPSQMVANAFCSAAQLQPQPATLLGKAGAFPPPAIPSAPGSQARPRPNGAPWPPEPAPAPAPELDPFEAQWAALEGKATVEKPSNPFSGDLQ +KTFEIEL* +>line39528 NM_001130167 WILDTYPE +MGLLSAPPCTQRITWKGLLLTASLLNFWNPPTTAQVTIEAQPTKVSEGKDVLLLVHNLPQNLTGYIWYKGQIRDLYHYITSYVVDGQIIIYGPAYSGRET +IYSNASLLIQNVTQEDAGSYTLHIIMGGDENRGVTGHFTFTLYLETPKPSISSSKLNPREAMEAVSLTCDPETPDASYLWWMNGQSLPMSHRLQLSETNR +TLFLLGVTKYTAGPYECEIRNPVSASRSDPFTLNLLPKLPKPYITINNLKPRENKDVLNFTCEPKSENYTYIWWLNGQSLPVSPRVKRPIENRILILPSV +TRNETGPYQCEIRDQYGGIRSYPVTLNVLYGPDLPRIYPSFTYYRSGEVLYLSCSADSNPPAQYSWTINGKFQLSGQKLFIPQITTKHSGLYACSVRNSA +TGKESSKSMTVKVSDWTLP* +>line39528 NM_001130167 c.357delC p.Y120Tfs*5 protein-altering (position 120-419 changed from YTLHIIMGGDENRGVTGHFTFTLYLETPKPSISSSKLNPREAMEAVSLTCDPETPDASYLWWMNGQSLPMSHRLQLSETNRTLFLLGVTKYTAGPYECEIRNPVSASRSDPFTLNLLPKLPKPYITINNLKPRENKDVLNFTCEPKSENYTYIWWLNGQSLPVSPRVKRPIENRILILPSVTRNETGPYQCEIRDQYGGIRSYPVTLNVLYGPDLPRIYPSFTYYRSGEVLYLSCSADSNPPAQYSWTINGKFQLSGQKLFIPQITTKHSGLYACSVRNSATGKESSKSMTVKVSDWTLP to TPYTS) +MGLLSAPPCTQRITWKGLLLTASLLNFWNPPTTAQVTIEAQPTKVSEGKDVLLLVHNLPQNLTGYIWYKGQIRDLYHYITSYVVDGQIIIYGPAYSGRET +IYSNASLLIQNVTQEDAGSTPYTS* +>line39543 NM_002785 WILDTYPE +MGPLSAPPCTEHIKWKGLLLTALLLNFWNLPTTAQVMIEAQPPKVSEGKDVLLLVHNLPQNLTGYIWYKGQIRDLYHYITSYVVDGQIIIYGPAYSGRET +VYSNASLLIQNVTREDAGSYTLHIIKRGDGTRGVTGYFTFTLYLETPKPSISSSNLNPREAMETVILTCNPETPDASYLWWMNGQSLPMTHRMQLSETNR +TLFLFGVTKYTAGPYECEIWNSGSASRSDPVTLNLLHGPDLPRIFPSVTSYYSGENLDLSCFANSNPPAQYSWTINGKFQLSGQKLFIPQITPKHNGLYA +CSARNSATGEESSTSLTIRVIAPPGLGTFAFNNPT* +>line39543 NM_002785 c.246_247CA p.V83I protein-altering (position 83 changed from V to I) +MGPLSAPPCTEHIKWKGLLLTALLLNFWNLPTTAQVMIEAQPPKVSEGKDVLLLVHNLPQNLTGYIWYKGQIRDLYHYITSYIVDGQIIIYGPAYSGRET +VYSNASLLIQNVTREDAGSYTLHIIKRGDGTRGVTGYFTFTLYLETPKPSISSSNLNPREAMETVILTCNPETPDASYLWWMNGQSLPMTHRMQLSETNR +TLFLFGVTKYTAGPYECEIWNSGSASRSDPVTLNLLHGPDLPRIFPSVTSYYSGENLDLSCFANSNPPAQYSWTINGKFQLSGQKLFIPQITPKHNGLYA +CSARNSATGEESSTSLTIRVIAPPGLGTFAFNNPT* +>line39638 NM_181845 WILDTYPE +MESRSVAQAGVQWCDLGSLQAPPPGFTLFSCLSLLSSWDYSSGFSGFCASPIEESHGALISSCNSRTMTDGLVTFRDVAIDFSQEEWECLDPAQRDLYVD +VMLENYSNLVSLDLESKTYETKKIFSENDIFEINFSQWEMKDKSKTLGLEASIFRNNWKCKSIFEGLKGHQEGYFSQMIISYEKIPSYRKSKSLTPHQRI +HNTEKSYVCKECGKACSHGSKLVQHERTHTAEKHFECKECGKNYLSAYQLNVHQRFHTGEKPYECKECGKTFSWGSSLVKHERIHTGEKPYECKECGKAF +SRGYHLTQHQKIHTGVKSYKCKECGKAFFWGSSLAKHEIIHTGEKPYKCKECGKAFSRGYQLTQHQKIHTGKKPYECKICGKAFCWGYQLTRHQIFHTGE +KPYECKECGKAFNCGSSLIQHERIHTGEKPYECKECGKAFSRGYHLSQHQKIHTGEKPFECKECGKAFSWGSSLVKHERVHTGEKSHECKECGKTFCSGY +QLTRHQVFHTGEKPYECKECGKAFNCGSSLVQHERIHTGEKPYECKECGKAFSRGYHLTQHQKIHTGEKPFKCKECGKAFSWGSSLVKHERVHTNEKSYE +CKDCGKAFGSGYQLSVHQRFHTGEKLYQRKEFGKTFTCGSKLVHERTHSNDKPYKYNECGEAFLWTTYSNEKIDTDETL* +>line39638 NM_181845 c.1912_1913CA p.C638H protein-altering (position 638 changed from C to H) +MESRSVAQAGVQWCDLGSLQAPPPGFTLFSCLSLLSSWDYSSGFSGFCASPIEESHGALISSCNSRTMTDGLVTFRDVAIDFSQEEWECLDPAQRDLYVD +VMLENYSNLVSLDLESKTYETKKIFSENDIFEINFSQWEMKDKSKTLGLEASIFRNNWKCKSIFEGLKGHQEGYFSQMIISYEKIPSYRKSKSLTPHQRI +HNTEKSYVCKECGKACSHGSKLVQHERTHTAEKHFECKECGKNYLSAYQLNVHQRFHTGEKPYECKECGKTFSWGSSLVKHERIHTGEKPYECKECGKAF +SRGYHLTQHQKIHTGVKSYKCKECGKAFFWGSSLAKHEIIHTGEKPYKCKECGKAFSRGYQLTQHQKIHTGKKPYECKICGKAFCWGYQLTRHQIFHTGE +KPYECKECGKAFNCGSSLIQHERIHTGEKPYECKECGKAFSRGYHLSQHQKIHTGEKPFECKECGKAFSWGSSLVKHERVHTGEKSHECKECGKTFCSGY +QLTRHQVFHTGEKPYECKECGKAFNCGSSLVQHERIHTGEKPYECKECGKAFSRGYHLTQHQKIHTGEKPFKCKECGKAFSWGSSLVKHERVHTNEKSYE +CKDCGKAFGSGYQLSVHQRFHTGEKLYQRKEFGKTFTHGSKLVHERTHSNDKPYKYNECGEAFLWTTYSNEKIDTDETL* +>line39703 NM_001037813 WILDTYPE +MTMFKEAVTFKDVAVVFTEEELGLLDVSQRKLYRDVMLENFRNLLSVGHQLSHRDTFHFQREEKFWIMETATQREGNSGGKIQTELESVPETGPHEEWSC +QQIWEQTASELTRPQDSISSSQFSTQGDVPSQVDAGLSIIHIGETPSEHGKCKKFFSDVSILDLHQQLHSGKISHTCNEYRKRFCYSSALCLHQKVHMGE +KRYKCDVCSKAFSQNSQLQTHQRIHTGEKPFKCEQCGKSFSRRSGMYVHCKLHTGEKPHICEECGKAFIHNSQLREHQRIHTGEKPFKCYICGKSFHSRS +NLNRHSMVHMQEKSFRCDTCSNSFGQRSALNSHCMDHTKEKLYKCEECGRSFTCRQDLCKHQMDHTGDKPYNCNVCGKGFRWSSCLSRHQRVHNGETTFK +CDGCGKRFYMNSQGHSHQRAYREEELYKCQKCGKGYISKFNLDLHQRVHTGERPYNCKECGKSFRWASGILRHKRLHTGEKPFKCEECGKRFTENSKLRF +HQRIHTGEKPYKCEECGKGFRWASTHLTHQRLHSREKLFQCEDCGKSSEHSSCLQDQQSDHSGEKTSKCEDCGKRYERRLNLDMILSLFLNDI* +>line39703 NM_001037813 c.369_371del p.S124del protein-altering (position 124 changed from S to ) +MTMFKEAVTFKDVAVVFTEEELGLLDVSQRKLYRDVMLENFRNLLSVGHQLSHRDTFHFQREEKFWIMETATQREGNSGGKIQTELESVPETGPHEEWSC +QQIWEQTASELTRPQDSISSSQFTQGDVPSQVDAGLSIIHIGETPSEHGKCKKFFSDVSILDLHQQLHSGKISHTCNEYRKRFCYSSALCLHQKVHMGEK +RYKCDVCSKAFSQNSQLQTHQRIHTGEKPFKCEQCGKSFSRRSGMYVHCKLHTGEKPHICEECGKAFIHNSQLREHQRIHTGEKPFKCYICGKSFHSRSN +LNRHSMVHMQEKSFRCDTCSNSFGQRSALNSHCMDHTKEKLYKCEECGRSFTCRQDLCKHQMDHTGDKPYNCNVCGKGFRWSSCLSRHQRVHNGETTFKC +DGCGKRFYMNSQGHSHQRAYREEELYKCQKCGKGYISKFNLDLHQRVHTGERPYNCKECGKSFRWASGILRHKRLHTGEKPFKCEECGKRFTENSKLRFH +QRIHTGEKPYKCEECGKGFRWASTHLTHQRLHSREKLFQCEDCGKSSEHSSCLQDQQSDHSGEKTSKCEDCGKRYERRLNLDMILSLFLNDI* +>line39774 NM_001278510 WILDTYPE +METLTSRHEKRALHSQASAISQDREEKIMSQEPLSFKDVAVVFTEEELELLDSTQRQLYQDVMQENFRNLLSVGDKNGKDTEYIQDEELRFFSHKELSSC +KIWEEVAGELPGSQDCRVNLQGKDFQFSEDAAPHQGWEGASTPCFPIENSLDSLQGDGLIGLENQQFPAWRAIRPIPIQGSWAKAFVNQLGDVQERCKNL +DTEDTVYKCNWDDDSFCWISCHVDHRFPEIDKPCGCNKCRKDCIKNSVLHRINPGENGLKSNEYRNGFRDDADLPPHPRVPLKEKLCQYDEFSEGLRHSA +HLNRHQRVPTGEKSVKSLERGRGVRQNTHIRNHPRAPVGDMPYRCDVCGKGFRYKSVLLIHQGVHTGRRPYKCEECGKAFGRSSNLLVHQRVHTGEKPYK +CSECGKGFSYSSVLQVHQRLHTGEKPYTCSECGKGFCAKSALHKHQHIHPGEKPYSCGECGKGFSCSSHLSSHQKTHTGERPYQCDKCGKGFSHNSYLQA +HQRVHMGQHLYKCNVCGKSFSYSSGLLMHQRLHTGEKPYKCECGKSFGRSSDLHIHQRVHTGEKPYKCSECGKGFRRNSDLHSHQRVHTGERPYVCDVCG +KGFIYSSDLLIHQRVHTGEKPYKCAECGKGFSYSSGLLIHQRVHTGEKPYRCQECGKGFRCTSSLHKHQRVHTGKKPYTCDQCGKGFSYGSNLRTHQRLH +TGEKPYTCCECGKGFRYGSGLLSHKRVHTGEKPYRCHVCGKGYSQSSHLQGHQRVHTGEKPYKCEECGKGFGRNSCLHVHQRVHTGEKPYTCGVCGKGFS +YTSGLRNHQRVHLGENPYK* +>line39774 NM_001278510 c.2027dupA p.P677Afs*4 protein-altering (position 677-819 changed from PYTCDQCGKGFSYGSNLRTHQRLHTGEKPYTCCECGKGFRYGSGLLSHKRVHTGEKPYRCHVCGKGYSQSSHLQGHQRVHTGEKPYKCEECGKGFGRNSCLHVHQRVHTGEKPYTCGVCGKGFSYTSGLRNHQRVHLGENPYK to ALYV) +METLTSRHEKRALHSQASAISQDREEKIMSQEPLSFKDVAVVFTEEELELLDSTQRQLYQDVMQENFRNLLSVGDKNGKDTEYIQDEELRFFSHKELSSC +KIWEEVAGELPGSQDCRVNLQGKDFQFSEDAAPHQGWEGASTPCFPIENSLDSLQGDGLIGLENQQFPAWRAIRPIPIQGSWAKAFVNQLGDVQERCKNL +DTEDTVYKCNWDDDSFCWISCHVDHRFPEIDKPCGCNKCRKDCIKNSVLHRINPGENGLKSNEYRNGFRDDADLPPHPRVPLKEKLCQYDEFSEGLRHSA +HLNRHQRVPTGEKSVKSLERGRGVRQNTHIRNHPRAPVGDMPYRCDVCGKGFRYKSVLLIHQGVHTGRRPYKCEECGKAFGRSSNLLVHQRVHTGEKPYK +CSECGKGFSYSSVLQVHQRLHTGEKPYTCSECGKGFCAKSALHKHQHIHPGEKPYSCGECGKGFSCSSHLSSHQKTHTGERPYQCDKCGKGFSHNSYLQA +HQRVHMGQHLYKCNVCGKSFSYSSGLLMHQRLHTGEKPYKCECGKSFGRSSDLHIHQRVHTGEKPYKCSECGKGFRRNSDLHSHQRVHTGERPYVCDVCG +KGFIYSSDLLIHQRVHTGEKPYKCAECGKGFSYSSGLLIHQRVHTGEKPYRCQECGKGFRCTSSLHKHQRVHTGKKALYV* +>line39877 NM_001278439 WILDTYPE +MWHEARKHERKLRGMMVDYKKRAERRREYYEKIKKDPAQFLQESDERKCNYERYRGLVQNDFAGISEEQCLYQIYIDELYGGLQRPSEDEKKKLAEKKAS +IGYTYEDSTVAKVEKAAEKPEEEESAAEEESNSDEDEVIPDIDVEVDVDELNQEQVADLNKQATTYGMADGDFVRMLRKDKEEAEAIKHAKALEEEKAMY +SGRRSRRQRREFREKRLRGRKISPPSYARRDSPTYDPYKRSPSESSSESRSRSRSPTPGREEKITFITSFGGSDEEAAAAAAAAAASGVTTGKPPAPPQP +GGPAPGRNASARRRSSSSSSSSSASRTSSSRSSSRSSSRSRRGGGYYRSGRHARSRSRSWSRSRSRSRRYSRSRSRGRRHSGGGSRDGHRYSRSPARRGG +YGPRRRSRSRSHSGDRYRRGGRGLRHHSSSRSRSSWSLSPSRSRSLTRSRSHSPSPSQSRSRSRSRSQSPSPSPAREKLTRPAASPAVGEKLKKTEPAAG +KETGAAKPKLTPQEKLKLRMQKALNRQFKADKKAAQEKMIQQEHERQEREDELRAMARKIRMKERERREKEREEWERQYSRQSRSPSPRYSREYSSSRRR +SRSRSRSPHYRH* +>line39877 NM_001278439 c.942_944del p.S323del protein-altering (position 323 changed from S to ) +MWHEARKHERKLRGMMVDYKKRAERRREYYEKIKKDPAQFLQESDERKCNYERYRGLVQNDFAGISEEQCLYQIYIDELYGGLQRPSEDEKKKLAEKKAS +IGYTYEDSTVAKVEKAAEKPEEEESAAEEESNSDEDEVIPDIDVEVDVDELNQEQVADLNKQATTYGMADGDFVRMLRKDKEEAEAIKHAKALEEEKAMY +SGRRSRRQRREFREKRLRGRKISPPSYARRDSPTYDPYKRSPSESSSESRSRSRSPTPGREEKITFITSFGGSDEEAAAAAAAAAASGVTTGKPPAPPQP +GGPAPGRNASARRRSSSSSSSSASRTSSSRSSSRSSSRSRRGGGYYRSGRHARSRSRSWSRSRSRSRRYSRSRSRGRRHSGGGSRDGHRYSRSPARRGGY +GPRRRSRSRSHSGDRYRRGGRGLRHHSSSRSRSSWSLSPSRSRSLTRSRSHSPSPSQSRSRSRSRSQSPSPSPAREKLTRPAASPAVGEKLKKTEPAAGK +ETGAAKPKLTPQEKLKLRMQKALNRQFKADKKAAQEKMIQQEHERQEREDELRAMARKIRMKERERREKEREEWERQYSRQSRSPSPRYSREYSSSRRRS +RSRSRSPHYRH* +>line39887 NM_212550 WILDTYPE +MASQGRRRRPLRRPETVVPGEATETDSERSASSSEEEELYLGPSGPTRGRPTGLRVAGEAAETDSEPEPEPEPTAAPRDLPPLVVQRESAEEAWGTEEAP +APAPARSLLQLRLAESQARLDHDVAAAVSGVYRRAGRDVAALASRLAAAQAAGLAAAHSVRLARGDLCALAERLDIVAGCRLLPDIRGVPGTEPEKDPGP +RA* +>line39887 NM_212550 c.111_112AA p.E38K protein-altering (position 38 changed from E to K) +MASQGRRRRPLRRPETVVPGEATETDSERSASSSEEEKLYLGPSGPTRGRPTGLRVAGEAAETDSEPEPEPEPTAAPRDLPPLVVQRESAEEAWGTEEAP +APAPARSLLQLRLAESQARLDHDVAAAVSGVYRRAGRDVAALASRLAAAQAAGLAAAHSVRLARGDLCALAERLDIVAGCRLLPDIRGVPGTEPEKDPGP +RA* +>line39922 NM_012099 WILDTYPE +MEEPQAGDAARFSCPPNFTAKPPASESPRFSLEALTGPDTELWLIQAPADFAPECFNGRHVPLSGSQIVKGKLAGKRHRYRVLSSCPQAGEATLLAPSTE +AGGGLTCASAPQGTLRILEGPQQSLSGSPLQPIPASPPPQIPPGLRPRFCAFGGNPPVTGPRSALAPNLLTSGKKKKEMQVTEAPVTQEAVNGHGALEVD +MALGSPEMDVRKKKKKKNQQLKEPEAAGPVGTEPTVETLEPLGVLFPSTTKKRKKPKGKETFEPEDKTVKQEQINTEPLEDTVLSPTKKRKRQKGTEGME +PEEGVTVESQPQVKVEPLEEAIPLPPTKKRKKEKGQMAMMEPGTEAMEPVEPEMKPLESPGGTMAPQQPEGAKPQAQAALAAPKKKTKKEKQQDATVEPE +TEVVGPELPDDLEPQAAPTSTKKKKKKKERGHTVTEPIQPLEPELPGEGQPEARATPGSTKKRKKQSQESRMPETVPQEEMPGPPLNSESGEEAPTGRDK +KRKQQQQQPV* +>line39922 NM_012099 c.1264_1266del p.K428del protein-altering (position 428 changed from K to ) +MEEPQAGDAARFSCPPNFTAKPPASESPRFSLEALTGPDTELWLIQAPADFAPECFNGRHVPLSGSQIVKGKLAGKRHRYRVLSSCPQAGEATLLAPSTE +AGGGLTCASAPQGTLRILEGPQQSLSGSPLQPIPASPPPQIPPGLRPRFCAFGGNPPVTGPRSALAPNLLTSGKKKKEMQVTEAPVTQEAVNGHGALEVD +MALGSPEMDVRKKKKKKNQQLKEPEAAGPVGTEPTVETLEPLGVLFPSTTKKRKKPKGKETFEPEDKTVKQEQINTEPLEDTVLSPTKKRKRQKGTEGME +PEEGVTVESQPQVKVEPLEEAIPLPPTKKRKKEKGQMAMMEPGTEAMEPVEPEMKPLESPGGTMAPQQPEGAKPQAQAALAAPKKKTKKEKQQDATVEPE +TEVVGPELPDDLEPQAAPTSTKKKKKKERGHTVTEPIQPLEPELPGEGQPEARATPGSTKKRKKQSQESRMPETVPQEEMPGPPLNSESGEEAPTGRDKK +RKQQQQQPV* +>line40161 NM_015711 WILDTYPE +MDDEDGRCLLDVICDPQALNDFLHGSEKLDSDDLLDNPGEAQSAFYEGPGLHVQEASGNHLNPEPNQPAPSVDLDFLEDDILGSPATGGGGGGSGGADQP +CDILQQSLQEANITEQTLEAEAELDLGPFQLPTLQPADGGAGPTGAGGAAAVAAGPQALFPGSTDLLGLQGPPTVLTHQALVPPQDVVNKALSVQPFLQP +VGLGNVTLQPIPGLQGLPNGSPGGATAATLGLAPIQVVGQPVMALNTPTSQLLAKQVPVSGYLASAAGPSEPVTLASAGVSPQGAGLVIQKNLSAAVATT +LNGNSVFGGAGAASAPTGTPSGQPLAVAPGLGSSPLVPAPNVILHRTPTPIQPKPAGVLPPKLYQLTPKPFAPAGATLTIQGEPGALPQQPKAPQNLTFM +AAGKAGQNVVLSGFPAPALQANVFKQPPATTTGAAPPQPPGALSKPMSVHLLNQGSSIVIPAQHMLPGQNQFLLPGAPAVQLPQQLSALPANVGGQILAA +AAPHTGGQLIANPILTNQNLAGPLSLGPVLAPHSGAHSAHILSAAPIQVGQPALFQMPVSLAAGSLPTQSQPAPAGPAATTVLQGVTLPPSAVAMLNTPD +GLVQPATPAAATGEAAPVLTVQPAPQAPPAVSTPLPLGLQQPQAQQPPQAPTPQAAAPPQATTPQPSPGLASSPEKIVLGQPPSATPTAILTQDSLQMFL +PQERSQQPLSAEGPHLSVPASVIVSAPPPAQDPAPATPVAKGAGLGPQAPDSQASPAPAPQIPAAAPLKGPGPSSSPSLPHQAPLGDSPHLPSPHPTRPP +SRPPSRPQSVSRPPSEPPLHPCPPPQAPPTLPGIFVIQNQLGVPPPASNPAPTAPGPPQPPLRPQSQPPEGPLPPAPHLPPSSTSSAVASSSETSSRLPA +PTPSDFQLQFPPSQGPHKSPTPPPTLHLVPEPAAPPPPPPRTFQMVTTPFPALPQPKALLERFHQVPSGIILQNKAGGAPAAPQTSTSLGPLTSPAASVL +VSGQAPSGTPTAPSHAPAPAPMAATGLPPLLPAENKAFASNLPTLNVAKAASSGPGKPSGLQYESKLSGLKKPPTLQPSKEACFLEHLHKHQGSVLHPDY +KTAFPSFEDALHRLLPYHVYQGALPSPSDYHKVDEEFETVSTQLLKRTQAMLNKYRLLLLEESRRVSPSAEMVMIDRMFIQEEKTTLALDKQLAKEKPDE +YVSSSRSLGLPIAASSEGHRLPGHGPLSSSAPGASTQPPPHLPTKLVIRHGGAGGSPSVTWARASSSLSSSSSSSSAASSLDADEDGPMPSRNRPPIKTY +EARSRIGLKLKIKQEAGLSKVVHNTALDPVHQPPPPPATLKVAEPPPRPPPPPPPTGQMNGTVDHPPPAAPERKPLGTAPHCPRLPLRKTYRENVGGPGA +PEGTPAGRARGGSPAPLPAKVDEATSGLIRELAAVEDELYQRMLKGPPPEPAASAAQGTGDPDWEAPGLPPAKRRKSESPDVDQASFSSDSPQDDTLTEH +LQSAIDSILNLQQAPGRTPAPSYPHAASAGTPASPPPLHRPEAYPPSSHNGGLGARTLTR* +>line40161 NM_015711 c.3025delA p.T1009Pfs*36 protein-altering (position 1009-1560 changed from TPTAPSHAPAPAPMAATGLPPLLPAENKAFASNLPTLNVAKAASSGPGKPSGLQYESKLSGLKKPPTLQPSKEACFLEHLHKHQGSVLHPDYKTAFPSFEDALHRLLPYHVYQGALPSPSDYHKVDEEFETVSTQLLKRTQAMLNKYRLLLLEESRRVSPSAEMVMIDRMFIQEEKTTLALDKQLAKEKPDEYVSSSRSLGLPIAASSEGHRLPGHGPLSSSAPGASTQPPPHLPTKLVIRHGGAGGSPSVTWARASSSLSSSSSSSSAASSLDADEDGPMPSRNRPPIKTYEARSRIGLKLKIKQEAGLSKVVHNTALDPVHQPPPPPATLKVAEPPPRPPPPPPPTGQMNGTVDHPPPAAPERKPLGTAPHCPRLPLRKTYRENVGGPGAPEGTPAGRARGGSPAPLPAKVDEATSGLIRELAAVEDELYQRMLKGPPPEPAASAAQGTGDPDWEAPGLPPAKRRKSESPDVDQASFSSDSPQDDTLTEHLQSAIDSILNLQQAPGRTPAPSYPHAASAGTPASPPPLHRPEAYPPSSHNGGLGARTLTR to PPLPPATPPPRHPWPPQASLLCFQPRTRLLPATSRP) +MDDEDGRCLLDVICDPQALNDFLHGSEKLDSDDLLDNPGEAQSAFYEGPGLHVQEASGNHLNPEPNQPAPSVDLDFLEDDILGSPATGGGGGGSGGADQP +CDILQQSLQEANITEQTLEAEAELDLGPFQLPTLQPADGGAGPTGAGGAAAVAAGPQALFPGSTDLLGLQGPPTVLTHQALVPPQDVVNKALSVQPFLQP +VGLGNVTLQPIPGLQGLPNGSPGGATAATLGLAPIQVVGQPVMALNTPTSQLLAKQVPVSGYLASAAGPSEPVTLASAGVSPQGAGLVIQKNLSAAVATT +LNGNSVFGGAGAASAPTGTPSGQPLAVAPGLGSSPLVPAPNVILHRTPTPIQPKPAGVLPPKLYQLTPKPFAPAGATLTIQGEPGALPQQPKAPQNLTFM +AAGKAGQNVVLSGFPAPALQANVFKQPPATTTGAAPPQPPGALSKPMSVHLLNQGSSIVIPAQHMLPGQNQFLLPGAPAVQLPQQLSALPANVGGQILAA +AAPHTGGQLIANPILTNQNLAGPLSLGPVLAPHSGAHSAHILSAAPIQVGQPALFQMPVSLAAGSLPTQSQPAPAGPAATTVLQGVTLPPSAVAMLNTPD +GLVQPATPAAATGEAAPVLTVQPAPQAPPAVSTPLPLGLQQPQAQQPPQAPTPQAAAPPQATTPQPSPGLASSPEKIVLGQPPSATPTAILTQDSLQMFL +PQERSQQPLSAEGPHLSVPASVIVSAPPPAQDPAPATPVAKGAGLGPQAPDSQASPAPAPQIPAAAPLKGPGPSSSPSLPHQAPLGDSPHLPSPHPTRPP +SRPPSRPQSVSRPPSEPPLHPCPPPQAPPTLPGIFVIQNQLGVPPPASNPAPTAPGPPQPPLRPQSQPPEGPLPPAPHLPPSSTSSAVASSSETSSRLPA +PTPSDFQLQFPPSQGPHKSPTPPPTLHLVPEPAAPPPPPPRTFQMVTTPFPALPQPKALLERFHQVPSGIILQNKAGGAPAAPQTSTSLGPLTSPAASVL +VSGQAPSGPPLPPATPPPRHPWPPQASLLCFQPRTRLLPATSRP* +>line40162 NM_015711 WILDTYPE +MDDEDGRCLLDVICDPQALNDFLHGSEKLDSDDLLDNPGEAQSAFYEGPGLHVQEASGNHLNPEPNQPAPSVDLDFLEDDILGSPATGGGGGGSGGADQP +CDILQQSLQEANITEQTLEAEAELDLGPFQLPTLQPADGGAGPTGAGGAAAVAAGPQALFPGSTDLLGLQGPPTVLTHQALVPPQDVVNKALSVQPFLQP +VGLGNVTLQPIPGLQGLPNGSPGGATAATLGLAPIQVVGQPVMALNTPTSQLLAKQVPVSGYLASAAGPSEPVTLASAGVSPQGAGLVIQKNLSAAVATT +LNGNSVFGGAGAASAPTGTPSGQPLAVAPGLGSSPLVPAPNVILHRTPTPIQPKPAGVLPPKLYQLTPKPFAPAGATLTIQGEPGALPQQPKAPQNLTFM +AAGKAGQNVVLSGFPAPALQANVFKQPPATTTGAAPPQPPGALSKPMSVHLLNQGSSIVIPAQHMLPGQNQFLLPGAPAVQLPQQLSALPANVGGQILAA +AAPHTGGQLIANPILTNQNLAGPLSLGPVLAPHSGAHSAHILSAAPIQVGQPALFQMPVSLAAGSLPTQSQPAPAGPAATTVLQGVTLPPSAVAMLNTPD +GLVQPATPAAATGEAAPVLTVQPAPQAPPAVSTPLPLGLQQPQAQQPPQAPTPQAAAPPQATTPQPSPGLASSPEKIVLGQPPSATPTAILTQDSLQMFL +PQERSQQPLSAEGPHLSVPASVIVSAPPPAQDPAPATPVAKGAGLGPQAPDSQASPAPAPQIPAAAPLKGPGPSSSPSLPHQAPLGDSPHLPSPHPTRPP +SRPPSRPQSVSRPPSEPPLHPCPPPQAPPTLPGIFVIQNQLGVPPPASNPAPTAPGPPQPPLRPQSQPPEGPLPPAPHLPPSSTSSAVASSSETSSRLPA +PTPSDFQLQFPPSQGPHKSPTPPPTLHLVPEPAAPPPPPPRTFQMVTTPFPALPQPKALLERFHQVPSGIILQNKAGGAPAAPQTSTSLGPLTSPAASVL +VSGQAPSGTPTAPSHAPAPAPMAATGLPPLLPAENKAFASNLPTLNVAKAASSGPGKPSGLQYESKLSGLKKPPTLQPSKEACFLEHLHKHQGSVLHPDY +KTAFPSFEDALHRLLPYHVYQGALPSPSDYHKVDEEFETVSTQLLKRTQAMLNKYRLLLLEESRRVSPSAEMVMIDRMFIQEEKTTLALDKQLAKEKPDE +YVSSSRSLGLPIAASSEGHRLPGHGPLSSSAPGASTQPPPHLPTKLVIRHGGAGGSPSVTWARASSSLSSSSSSSSAASSLDADEDGPMPSRNRPPIKTY +EARSRIGLKLKIKQEAGLSKVVHNTALDPVHQPPPPPATLKVAEPPPRPPPPPPPTGQMNGTVDHPPPAAPERKPLGTAPHCPRLPLRKTYRENVGGPGA +PEGTPAGRARGGSPAPLPAKVDEATSGLIRELAAVEDELYQRMLKGPPPEPAASAAQGTGDPDWEAPGLPPAKRRKSESPDVDQASFSSDSPQDDTLTEH +LQSAIDSILNLQQAPGRTPAPSYPHAASAGTPASPPPLHRPEAYPPSSHNGGLGARTLTR* +>line40162 NM_015711 c.3029_3034del p.T1011_A1012del protein-altering (position 1011-1012 changed from TA to ) +MDDEDGRCLLDVICDPQALNDFLHGSEKLDSDDLLDNPGEAQSAFYEGPGLHVQEASGNHLNPEPNQPAPSVDLDFLEDDILGSPATGGGGGGSGGADQP +CDILQQSLQEANITEQTLEAEAELDLGPFQLPTLQPADGGAGPTGAGGAAAVAAGPQALFPGSTDLLGLQGPPTVLTHQALVPPQDVVNKALSVQPFLQP +VGLGNVTLQPIPGLQGLPNGSPGGATAATLGLAPIQVVGQPVMALNTPTSQLLAKQVPVSGYLASAAGPSEPVTLASAGVSPQGAGLVIQKNLSAAVATT +LNGNSVFGGAGAASAPTGTPSGQPLAVAPGLGSSPLVPAPNVILHRTPTPIQPKPAGVLPPKLYQLTPKPFAPAGATLTIQGEPGALPQQPKAPQNLTFM +AAGKAGQNVVLSGFPAPALQANVFKQPPATTTGAAPPQPPGALSKPMSVHLLNQGSSIVIPAQHMLPGQNQFLLPGAPAVQLPQQLSALPANVGGQILAA +AAPHTGGQLIANPILTNQNLAGPLSLGPVLAPHSGAHSAHILSAAPIQVGQPALFQMPVSLAAGSLPTQSQPAPAGPAATTVLQGVTLPPSAVAMLNTPD +GLVQPATPAAATGEAAPVLTVQPAPQAPPAVSTPLPLGLQQPQAQQPPQAPTPQAAAPPQATTPQPSPGLASSPEKIVLGQPPSATPTAILTQDSLQMFL +PQERSQQPLSAEGPHLSVPASVIVSAPPPAQDPAPATPVAKGAGLGPQAPDSQASPAPAPQIPAAAPLKGPGPSSSPSLPHQAPLGDSPHLPSPHPTRPP +SRPPSRPQSVSRPPSEPPLHPCPPPQAPPTLPGIFVIQNQLGVPPPASNPAPTAPGPPQPPLRPQSQPPEGPLPPAPHLPPSSTSSAVASSSETSSRLPA +PTPSDFQLQFPPSQGPHKSPTPPPTLHLVPEPAAPPPPPPRTFQMVTTPFPALPQPKALLERFHQVPSGIILQNKAGGAPAAPQTSTSLGPLTSPAASVL +VSGQAPSGTPPSHAPAPAPMAATGLPPLLPAENKAFASNLPTLNVAKAASSGPGKPSGLQYESKLSGLKKPPTLQPSKEACFLEHLHKHQGSVLHPDYKT +AFPSFEDALHRLLPYHVYQGALPSPSDYHKVDEEFETVSTQLLKRTQAMLNKYRLLLLEESRRVSPSAEMVMIDRMFIQEEKTTLALDKQLAKEKPDEYV +SSSRSLGLPIAASSEGHRLPGHGPLSSSAPGASTQPPPHLPTKLVIRHGGAGGSPSVTWARASSSLSSSSSSSSAASSLDADEDGPMPSRNRPPIKTYEA +RSRIGLKLKIKQEAGLSKVVHNTALDPVHQPPPPPATLKVAEPPPRPPPPPPPTGQMNGTVDHPPPAAPERKPLGTAPHCPRLPLRKTYRENVGGPGAPE +GTPAGRARGGSPAPLPAKVDEATSGLIRELAAVEDELYQRMLKGPPPEPAASAAQGTGDPDWEAPGLPPAKRRKSESPDVDQASFSSDSPQDDTLTEHLQ +SAIDSILNLQQAPGRTPAPSYPHAASAGTPASPPPLHRPEAYPPSSHNGGLGARTLTR* +>line40163 NM_015711 WILDTYPE +MDDEDGRCLLDVICDPQALNDFLHGSEKLDSDDLLDNPGEAQSAFYEGPGLHVQEASGNHLNPEPNQPAPSVDLDFLEDDILGSPATGGGGGGSGGADQP +CDILQQSLQEANITEQTLEAEAELDLGPFQLPTLQPADGGAGPTGAGGAAAVAAGPQALFPGSTDLLGLQGPPTVLTHQALVPPQDVVNKALSVQPFLQP +VGLGNVTLQPIPGLQGLPNGSPGGATAATLGLAPIQVVGQPVMALNTPTSQLLAKQVPVSGYLASAAGPSEPVTLASAGVSPQGAGLVIQKNLSAAVATT +LNGNSVFGGAGAASAPTGTPSGQPLAVAPGLGSSPLVPAPNVILHRTPTPIQPKPAGVLPPKLYQLTPKPFAPAGATLTIQGEPGALPQQPKAPQNLTFM +AAGKAGQNVVLSGFPAPALQANVFKQPPATTTGAAPPQPPGALSKPMSVHLLNQGSSIVIPAQHMLPGQNQFLLPGAPAVQLPQQLSALPANVGGQILAA +AAPHTGGQLIANPILTNQNLAGPLSLGPVLAPHSGAHSAHILSAAPIQVGQPALFQMPVSLAAGSLPTQSQPAPAGPAATTVLQGVTLPPSAVAMLNTPD +GLVQPATPAAATGEAAPVLTVQPAPQAPPAVSTPLPLGLQQPQAQQPPQAPTPQAAAPPQATTPQPSPGLASSPEKIVLGQPPSATPTAILTQDSLQMFL +PQERSQQPLSAEGPHLSVPASVIVSAPPPAQDPAPATPVAKGAGLGPQAPDSQASPAPAPQIPAAAPLKGPGPSSSPSLPHQAPLGDSPHLPSPHPTRPP +SRPPSRPQSVSRPPSEPPLHPCPPPQAPPTLPGIFVIQNQLGVPPPASNPAPTAPGPPQPPLRPQSQPPEGPLPPAPHLPPSSTSSAVASSSETSSRLPA +PTPSDFQLQFPPSQGPHKSPTPPPTLHLVPEPAAPPPPPPRTFQMVTTPFPALPQPKALLERFHQVPSGIILQNKAGGAPAAPQTSTSLGPLTSPAASVL +VSGQAPSGTPTAPSHAPAPAPMAATGLPPLLPAENKAFASNLPTLNVAKAASSGPGKPSGLQYESKLSGLKKPPTLQPSKEACFLEHLHKHQGSVLHPDY +KTAFPSFEDALHRLLPYHVYQGALPSPSDYHKVDEEFETVSTQLLKRTQAMLNKYRLLLLEESRRVSPSAEMVMIDRMFIQEEKTTLALDKQLAKEKPDE +YVSSSRSLGLPIAASSEGHRLPGHGPLSSSAPGASTQPPPHLPTKLVIRHGGAGGSPSVTWARASSSLSSSSSSSSAASSLDADEDGPMPSRNRPPIKTY +EARSRIGLKLKIKQEAGLSKVVHNTALDPVHQPPPPPATLKVAEPPPRPPPPPPPTGQMNGTVDHPPPAAPERKPLGTAPHCPRLPLRKTYRENVGGPGA +PEGTPAGRARGGSPAPLPAKVDEATSGLIRELAAVEDELYQRMLKGPPPEPAASAAQGTGDPDWEAPGLPPAKRRKSESPDVDQASFSSDSPQDDTLTEH +LQSAIDSILNLQQAPGRTPAPSYPHAASAGTPASPPPLHRPEAYPPSSHNGGLGARTLTR* +>line40163 NM_015711 c.3043_3046del p.H1015Pfs*29 protein-altering (position 1015-1560 changed from HAPAPAPMAATGLPPLLPAENKAFASNLPTLNVAKAASSGPGKPSGLQYESKLSGLKKPPTLQPSKEACFLEHLHKHQGSVLHPDYKTAFPSFEDALHRLLPYHVYQGALPSPSDYHKVDEEFETVSTQLLKRTQAMLNKYRLLLLEESRRVSPSAEMVMIDRMFIQEEKTTLALDKQLAKEKPDEYVSSSRSLGLPIAASSEGHRLPGHGPLSSSAPGASTQPPPHLPTKLVIRHGGAGGSPSVTWARASSSLSSSSSSSSAASSLDADEDGPMPSRNRPPIKTYEARSRIGLKLKIKQEAGLSKVVHNTALDPVHQPPPPPATLKVAEPPPRPPPPPPPTGQMNGTVDHPPPAAPERKPLGTAPHCPRLPLRKTYRENVGGPGAPEGTPAGRARGGSPAPLPAKVDEATSGLIRELAAVEDELYQRMLKGPPPEPAASAAQGTGDPDWEAPGLPPAKRRKSESPDVDQASFSSDSPQDDTLTEHLQSAIDSILNLQQAPGRTPAPSYPHAASAGTPASPPPLHRPEAYPPSSHNGGLGARTLTR to PPPRHPWPPQASLLCFQPRTRLLPATSRP) +MDDEDGRCLLDVICDPQALNDFLHGSEKLDSDDLLDNPGEAQSAFYEGPGLHVQEASGNHLNPEPNQPAPSVDLDFLEDDILGSPATGGGGGGSGGADQP +CDILQQSLQEANITEQTLEAEAELDLGPFQLPTLQPADGGAGPTGAGGAAAVAAGPQALFPGSTDLLGLQGPPTVLTHQALVPPQDVVNKALSVQPFLQP +VGLGNVTLQPIPGLQGLPNGSPGGATAATLGLAPIQVVGQPVMALNTPTSQLLAKQVPVSGYLASAAGPSEPVTLASAGVSPQGAGLVIQKNLSAAVATT +LNGNSVFGGAGAASAPTGTPSGQPLAVAPGLGSSPLVPAPNVILHRTPTPIQPKPAGVLPPKLYQLTPKPFAPAGATLTIQGEPGALPQQPKAPQNLTFM +AAGKAGQNVVLSGFPAPALQANVFKQPPATTTGAAPPQPPGALSKPMSVHLLNQGSSIVIPAQHMLPGQNQFLLPGAPAVQLPQQLSALPANVGGQILAA +AAPHTGGQLIANPILTNQNLAGPLSLGPVLAPHSGAHSAHILSAAPIQVGQPALFQMPVSLAAGSLPTQSQPAPAGPAATTVLQGVTLPPSAVAMLNTPD +GLVQPATPAAATGEAAPVLTVQPAPQAPPAVSTPLPLGLQQPQAQQPPQAPTPQAAAPPQATTPQPSPGLASSPEKIVLGQPPSATPTAILTQDSLQMFL +PQERSQQPLSAEGPHLSVPASVIVSAPPPAQDPAPATPVAKGAGLGPQAPDSQASPAPAPQIPAAAPLKGPGPSSSPSLPHQAPLGDSPHLPSPHPTRPP +SRPPSRPQSVSRPPSEPPLHPCPPPQAPPTLPGIFVIQNQLGVPPPASNPAPTAPGPPQPPLRPQSQPPEGPLPPAPHLPPSSTSSAVASSSETSSRLPA +PTPSDFQLQFPPSQGPHKSPTPPPTLHLVPEPAAPPPPPPRTFQMVTTPFPALPQPKALLERFHQVPSGIILQNKAGGAPAAPQTSTSLGPLTSPAASVL +VSGQAPSGTPTAPSPPPRHPWPPQASLLCFQPRTRLLPATSRP* +>line40327 NM_001321864 WILDTYPE +MLHLQKETFATYVARFQKEAYCPNKCGVMLQTLIWCKNCKKEVHACRKSYDCGERNVEVPQMEDMILDCELNWHQASEGLTDYSFYRVWGNNTETLVSKG +KEATLTKPMVGPEDAGSYRCELGSVNSSPATIINFHVTVLPKMIKEEKPSPNIVTPGEATTESSISLQPLQPEKMLASRLLGLLICGSLALITGLTFAIF +RRRKVIDFIKSSLFGLGSGAAEQTQVPKEKATDSRQQ* +>line40327 NM_001321864 c.659_660TT p.A220V protein-altering (position 220 changed from A to V) +MLHLQKETFATYVARFQKEAYCPNKCGVMLQTLIWCKNCKKEVHACRKSYDCGERNVEVPQMEDMILDCELNWHQASEGLTDYSFYRVWGNNTETLVSKG +KEATLTKPMVGPEDAGSYRCELGSVNSSPATIINFHVTVLPKMIKEEKPSPNIVTPGEATTESSISLQPLQPEKMLASRLLGLLICGSLALITGLTFAIF +RRRKVIDFIKSSLFGLGSGVAEQTQVPKEKATDSRQQ* +>line40417 NM_002152 WILDTYPE +MGHHRPWLHASVLWAGVASLLLPPAMTQQLRGDGLGFRNRNNSTGVAGLSEEASAELRHHLHSPRDHPDENKDVSTENGHHFWSHPDREKEDEDVSKEYG +HLLPGHRSQDHKVGDEGVSGEEVFAEHGGQARGHRGHGSEDTEDSAEHRHHLPSHRSHSHQDEDEDEVVSSEHHHHILRHGHRGHDGEDDEGEEEEEEEE +EEEEASTEYGHQAHRHRGHGSEEDEDVSDGHHHHGPSHRHQGHEEDDDDDDDDDDDDDDDDVSIEYRHQAHRHQGHGIEEDEDVSDGHHHRDPSHRHRSH +EEDDNDDDDVSTEYGHQAHRHQDHRKEEVEAVSGEHHHHVPDHRHQGHRDEEEDEDVSTERWHQGPQHVHHGLVDEEEEEEEITVQFGHYVASHQPRGHK +SDEEDFQDEYKTEVPHHHHHRVPREEDEEVSAELGHQAPSHRQSHQDEETGHGQRGSIKEMSHHPPGHTVVKDRSHLRKDDSEEEKEKEEDPGSHEEDDE +SSEQGEKGTHHGSRDQEDEEDEEEGHGLSLNQEEEEEEDKEEEEEEEDEERREERAEVGAPLSPDHSEEEEEEEEGLEEDEPRFTIIPNPLDRREEAGGA +SSEEESGEDTGPQDAQEYGNYQPGSLCGYCSFCNRCTECESCHCDEENMGEHCDQCQHCQFCYLCPLVCETVCAPGSYVDYFSSSLYQALADMLETPEP* + +>line40417 NM_002152 c.605_606insGGA p.E204_A205insE protein-altering (position 204-205 has insertion E) +MGHHRPWLHASVLWAGVASLLLPPAMTQQLRGDGLGFRNRNNSTGVAGLSEEASAELRHHLHSPRDHPDENKDVSTENGHHFWSHPDREKEDEDVSKEYG +HLLPGHRSQDHKVGDEGVSGEEVFAEHGGQARGHRGHGSEDTEDSAEHRHHLPSHRSHSHQDEDEDEVVSSEHHHHILRHGHRGHDGEDDEGEEEEEEEE +EEEEEASTEYGHQAHRHRGHGSEEDEDVSDGHHHHGPSHRHQGHEEDDDDDDDDDDDDDDDDVSIEYRHQAHRHQGHGIEEDEDVSDGHHHRDPSHRHRS +HEEDDNDDDDVSTEYGHQAHRHQDHRKEEVEAVSGEHHHHVPDHRHQGHRDEEEDEDVSTERWHQGPQHVHHGLVDEEEEEEEITVQFGHYVASHQPRGH +KSDEEDFQDEYKTEVPHHHHHRVPREEDEEVSAELGHQAPSHRQSHQDEETGHGQRGSIKEMSHHPPGHTVVKDRSHLRKDDSEEEKEKEEDPGSHEEDD +ESSEQGEKGTHHGSRDQEDEEDEEEGHGLSLNQEEEEEEDKEEEEEEEDEERREERAEVGAPLSPDHSEEEEEEEEGLEEDEPRFTIIPNPLDRREEAGG +ASSEEESGEDTGPQDAQEYGNYQPGSLCGYCSFCNRCTECESCHCDEENMGEHCDQCQHCQFCYLCPLVCETVCAPGSYVDYFSSSLYQALADMLETPEP +* +>line40580 NM_007121 WILDTYPE +MSSPTTSSLDTPLPGNGPPQPGAPSSSPTVKEEGPEPWPGGPDPDVPGTDEASSACSTDWVIPDPEEEPERKRKKGPAPKMLGHELCRVCGDKASGFHYN +VLSCEGCKGFFRRSVVRGGARRYACRGGGTCQMDAFMRRKCQQCRLRKCKEAGMREQCVLSEEQIRKKKIRKQQQESQSQSQSPVGPQGSSSSASGPGAS +PGGSEAGSQGSGEGEGVQLTAAQELMIQQLVAAQLQCNKRSFSDQPKVTPWPLGADPQSRDARQQRFAHFTELAIISVQEIVDFAKQVPGFLQLGREDQI +ALLKASTIEIMLLETARRYNHETECITFLKDFTYSKDDFHRAGLQVEFINPIFEFSRAMRRLGLDDAEYALLIAINIFSADRPNVQEPGRVEALQQPYVE +ALLSYTRIKRPQDQLRFPRMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE* +>line40580 NM_007121 c.514_515insAAC p.Q175_E176insQ protein-altering (position 175-176 has insertion Q) +MSSPTTSSLDTPLPGNGPPQPGAPSSSPTVKEEGPEPWPGGPDPDVPGTDEASSACSTDWVIPDPEEEPERKRKKGPAPKMLGHELCRVCGDKASGFHYN +VLSCEGCKGFFRRSVVRGGARRYACRGGGTCQMDAFMRRKCQQCRLRKCKEAGMREQCVLSEEQIRKKKIRKQQQQESQSQSQSPVGPQGSSSSASGPGA +SPGGSEAGSQGSGEGEGVQLTAAQELMIQQLVAAQLQCNKRSFSDQPKVTPWPLGADPQSRDARQQRFAHFTELAIISVQEIVDFAKQVPGFLQLGREDQ +IALLKASTIEIMLLETARRYNHETECITFLKDFTYSKDDFHRAGLQVEFINPIFEFSRAMRRLGLDDAEYALLIAINIFSADRPNVQEPGRVEALQQPYV +EALLSYTRIKRPQDQLRFPRMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE* +>line40612 NM_033068 WILDTYPE +MAGLGFWGHPAGPLLLLLLLVLPPRALPEGPLVFVALVFRHGDRAPLASYPMDPHKEVASTLWPRGLGQLTTEGVRQQLELGRFLRSRYEAFLSPEYRRE +EVYIRSTDFDRTLESAQANLAGLFPEAAPGSPEARWRPIPVHTVPVAEDKLLRFPMRSCPRYHELLREATEAAEYQEALEGWTGFLSRLENFTGLSLVGE +PLRRAWKVLDTLMCQQAHGLPLPAWASPDVLRTLAQISALDIGAHVGPPRAAEKAQLTGGILLNAILANFSRVQRLGLPLKMVMYSAHDSTLLALQGALG +LYDGHTPPYAACLGFEFRKHLGNPAKDGGNVTVSLFYRNDSAHLPLPLSLPGCPAPCPLGRFYQLTAPARPPAHGVSCHGPYEAAIPPAPVVPLLAGAVA +VLVALSLGLGLLAWRPGCLRALGGPV* +>line40612 NM_033068 c.973_974AA p.A325N protein-altering (position 325 changed from A to N) +MAGLGFWGHPAGPLLLLLLLVLPPRALPEGPLVFVALVFRHGDRAPLASYPMDPHKEVASTLWPRGLGQLTTEGVRQQLELGRFLRSRYEAFLSPEYRRE +EVYIRSTDFDRTLESAQANLAGLFPEAAPGSPEARWRPIPVHTVPVAEDKLLRFPMRSCPRYHELLREATEAAEYQEALEGWTGFLSRLENFTGLSLVGE +PLRRAWKVLDTLMCQQAHGLPLPAWASPDVLRTLAQISALDIGAHVGPPRAAEKAQLTGGILLNAILANFSRVQRLGLPLKMVMYSAHDSTLLALQGALG +LYDGHTPPYAACLGFEFRKHLGNPNKDGGNVTVSLFYRNDSAHLPLPLSLPGCPAPCPLGRFYQLTAPARPPAHGVSCHGPYEAAIPPAPVVPLLAGAVA +VLVALSLGLGLLAWRPGCLRALGGPV* +>line40696 NM_001163922 WILDTYPE +MDNPQALPLFLLLASLVGILTLRASSGLQQTNFSSAFSSDSKSSSQGLGVEVPSIKPPSWKVPDQFLDSKASAGISDSSWFPEALSSNMSGSFWSNVSAE +GQDLSPVSPFSETPGSEVFPDISDPQVPAKDPKPSFTVKTPASNISTQVSHTKLSVEAPDSKFSPDDMDLKLSAQSPESKFSAETHSAASFPQQVGGPLA +VLVGTTIRLPLVPIPNPGPPTSLVVWRRGSKVLAAGGLGPGAPLISLDPAHRDHLRFDQARGVLELASAQLDDAGVYTAEVIRAGVSQQTHEFTVGVYEP +LPQLSVQPKAPETEEGAAELRLRCLGWGPGRGELSWSRDGRALEAAESEGAETPRMRSEGDQLLIVRPVRSDHARYTCRVRSPFGHREAAADVSVFYGPD +PPTITVSSDRDAAPARFVTAGSNVTLRCAAASRPPADITWSLADPAEAAVPAGSRLLLPAVGPGHAGTYACLAANPRTGRRRRSLLNLTVADLPPGAPQC +SVEGGPGDRSLRFRCSWPGGAPAASLQFQGLPEGIRAGPVSSVLLAAVPAHPRLSGVPITCLARHLVATRTCTVTPEAPREVLLHPLVAETRLGEAEVAL +EASGCPPPSRASWAREGRPLAPGGGSRLRLSQDGRKLHIGNFSLDWDLGNYSVLCSGALGAGGDQITLIGPSISSWRLQRARDAAVLTWDVERGALISSF +EIQAWPDGPALGRTSTYRDWVSLLILGPQERSAVVPLPPRNPGTWTFRILPILGGQPGTPSQSRVYRAGPTLSHGAIAGIVLGSLLGLALLAVLLLLCIC +CLCRFRGKTPEKKKHPSTLVPVVTPSEKKMHSVTPVEISWPLDLKVPLEDHSSTRAYQAQTPVQLSL* +>line40696 NM_001163922 c.2576dupC p.Q860Tfs*22 protein-altering (position 860-867 changed from QTPVQLSL to TDPSSVVSVGGGSKTVRAATQV) +MDNPQALPLFLLLASLVGILTLRASSGLQQTNFSSAFSSDSKSSSQGLGVEVPSIKPPSWKVPDQFLDSKASAGISDSSWFPEALSSNMSGSFWSNVSAE +GQDLSPVSPFSETPGSEVFPDISDPQVPAKDPKPSFTVKTPASNISTQVSHTKLSVEAPDSKFSPDDMDLKLSAQSPESKFSAETHSAASFPQQVGGPLA +VLVGTTIRLPLVPIPNPGPPTSLVVWRRGSKVLAAGGLGPGAPLISLDPAHRDHLRFDQARGVLELASAQLDDAGVYTAEVIRAGVSQQTHEFTVGVYEP +LPQLSVQPKAPETEEGAAELRLRCLGWGPGRGELSWSRDGRALEAAESEGAETPRMRSEGDQLLIVRPVRSDHARYTCRVRSPFGHREAAADVSVFYGPD +PPTITVSSDRDAAPARFVTAGSNVTLRCAAASRPPADITWSLADPAEAAVPAGSRLLLPAVGPGHAGTYACLAANPRTGRRRRSLLNLTVADLPPGAPQC +SVEGGPGDRSLRFRCSWPGGAPAASLQFQGLPEGIRAGPVSSVLLAAVPAHPRLSGVPITCLARHLVATRTCTVTPEAPREVLLHPLVAETRLGEAEVAL +EASGCPPPSRASWAREGRPLAPGGGSRLRLSQDGRKLHIGNFSLDWDLGNYSVLCSGALGAGGDQITLIGPSISSWRLQRARDAAVLTWDVERGALISSF +EIQAWPDGPALGRTSTYRDWVSLLILGPQERSAVVPLPPRNPGTWTFRILPILGGQPGTPSQSRVYRAGPTLSHGAIAGIVLGSLLGLALLAVLLLLCIC +CLCRFRGKTPEKKKHPSTLVPVVTPSEKKMHSVTPVEISWPLDLKVPLEDHSSTRAYQATDPSSVVSVGGGSKTVRAATQV* +>line40732 NM_053003 WILDTYPE +MLLLLLLLPPLLCGRVGAKEQKDYLLTMQKSVTVQEGLCVSVLCSFSYPQNGWTASDPVHGYWFRAGDHVSRNIPVATNNPARAVQEETRDRFHLLGDPQ +NKDCTLSIRDTRESDAGTYVFCVERGNMKWNYKYDQLSVNVTASQDLLSRYRLEVPESVTVQEGLCVSVPCSVLYPHYNWTASSPVYGSWFKEGADIPWD +IPVATNTPSGKVQEDTHGRFLLLGDPQTNNCSLSIRDARKGDSGKYYFQVERGSRKWNYIYDKLSVHVTALTHMPTFSIPGTLESGHPRNLTCSVPWACE +QGTPPTITWMGASVSSLDPTITRSSMLSLIPQPQDHGTSLTCQVTLPGAGVTMTRAVRLNISYPPQNLTMTVFQGDGTASTTLRNGSALSVLEGQSLHLV +CAVDSNPPARLSWTWGSLTLSPSQSSNLGVLELPRVHVKDEGEFTCRAQNPLGSQHISLSLSLQNEYTGKMRPISGVTLGAFGGAGATALVFLYFCIIFV +VVRSCRKKSARPAVGVGDTGMEDANAVRGSASQGPLIESPADDSPPHHAPPALATPSPEEGEIQYASLSFHKARPQYPQEQEAIGYEYSEINIPK* +>line40732 NM_053003 c.196dupG p.A66Gfs*49 protein-altering (position 66-595 changed from AGDHVSRNIPVATNNPARAVQEETRDRFHLLGDPQNKDCTLSIRDTRESDAGTYVFCVERGNMKWNYKYDQLSVNVTASQDLLSRYRLEVPESVTVQEGLCVSVPCSVLYPHYNWTASSPVYGSWFKEGADIPWDIPVATNTPSGKVQEDTHGRFLLLGDPQTNNCSLSIRDARKGDSGKYYFQVERGSRKWNYIYDKLSVHVTALTHMPTFSIPGTLESGHPRNLTCSVPWACEQGTPPTITWMGASVSSLDPTITRSSMLSLIPQPQDHGTSLTCQVTLPGAGVTMTRAVRLNISYPPQNLTMTVFQGDGTASTTLRNGSALSVLEGQSLHLVCAVDSNPPARLSWTWGSLTLSPSQSSNLGVLELPRVHVKDEGEFTCRAQNPLGSQHISLSLSLQNEYTGKMRPISGVTLGAFGGAGATALVFLYFCIIFVVVRSCRKKSARPAVGVGDTGMEDANAVRGSASQGPLIESPADDSPPHHAPPALATPSPEEGEIQYASLSFHKARPQYPQEQEAIGYEYSEINIPK to GRGPCKPEHSSGHKQPSSSSAGGDSGPIPPPWGPTEQGLYPEHQRHQRE) +MLLLLLLLPPLLCGRVGAKEQKDYLLTMQKSVTVQEGLCVSVLCSFSYPQNGWTASDPVHGYWFRGRGPCKPEHSSGHKQPSSSSAGGDSGPIPPPWGPT +EQGLYPEHQRHQRE* +>line40810 NM_001297624 WILDTYPE +MLCDEKAQKRRKRKAKESGMALPQGHLTFRDVAIEFSQAEWKCLDPAQRALYKDVMLENYRNLVSLGSSYALGSNAEDKPIKKQLGVSFHLHLSELELFP +DERVINGCNQVENFINHSSSVSCLQEMSSSVKTPIFNRNDFDDSSFLPQEQKVHLREKPYECNEHSKVFRVSSSLTKHQVIHTVEKPYKCNSCGKVFSRN +SHLAEHCRIHTGEKPYKCNVCGKVFSYNSNFARHQRIHTREKPYECNECGKVFSNNSYLARHQRIHAEEKPYKCNECGKGFSHKSSLANHWRIYTGEKPY +KCDECGKAFYRIALLVRHQKIHTGEKPYKCNECGKVFIQNSHLAQHWRIHTGEKPYKCNECGKVFNQLSNLARHRRIHTGEKPYKCNECGKAFSEYSGLS +AHLVIHTGEKPYKCSECGKAFRHKLSLTNHQRIHTGERPYKCNECGKVFNRIAHLARHRKIHTGEKPYKCNECGKAFSRISYLAQHWTIHMG* +>line40810 NM_001297624 c.5_6del p.C3fs*0 protein-altering (position 3-492 changed from CDEKAQKRRKRKAKESGMALPQGHLTFRDVAIEFSQAEWKCLDPAQRALYKDVMLENYRNLVSLGSSYALGSNAEDKPIKKQLGVSFHLHLSELELFPDERVINGCNQVENFINHSSSVSCLQEMSSSVKTPIFNRNDFDDSSFLPQEQKVHLREKPYECNEHSKVFRVSSSLTKHQVIHTVEKPYKCNSCGKVFSRNSHLAEHCRIHTGEKPYKCNVCGKVFSYNSNFARHQRIHTREKPYECNECGKVFSNNSYLARHQRIHAEEKPYKCNECGKGFSHKSSLANHWRIYTGEKPYKCDECGKAFYRIALLVRHQKIHTGEKPYKCNECGKVFIQNSHLAQHWRIHTGEKPYKCNECGKVFNQLSNLARHRRIHTGEKPYKCNECGKAFSEYSGLSAHLVIHTGEKPYKCSECGKAFRHKLSLTNHQRIHTGERPYKCNECGKVFNRIAHLARHRKIHTGEKPYKCNECGKAFSRISYLAQHWTIHMG to ) +ML* +>line40834 NM_001145434 WILDTYPE +MLRRGHLAFRDVAIEFPQEEWKCLDPAQRTLYREVMVENYRNLVFLGICLPDLSVISMLEQRRDPRNLQSEVKIANNPGGRECIKGVNAESSSKLGSNAG +NKSLKNQLGLTFQLHLSELQLFQAERNISGCKHVEKPINNSLVSPLQKIYSSVKSHILNKYRNDFDDSPFLPQEQKAQIREKPCECNEHGKAFRVSSRLA +NNQVIHTADNPYKCNECDKVFSNSSNLVQHQRIHTGEKPYKCHECGKLFNRISLLARHQRIHTGEKPYKCHECGKVFTQNSHLANHHRIHTGEKPYKCNE +CGKVFNRNAHLARHQKIHSGEKPYKCKECGKAFSGGSGLTAHLVIHTGEKLYKCNKCGKVFNRNAHLTRHQRIHTGEKPYECKECGKVFRHKFCLTNHHR +MHTGEQPYKCNECGKAFRDCSGLTAHLLIHTGEKPYKCKECAKVFRHRLSLSNHQRFHTGEKPYRCDECGKDFTRNSNLANHHRIHTGEKPYKCSECHKV +FSHNSHLARHRQIHTGEKSYKCNECGKVFSHKLYLKKHERIHTGEKPYRCHECGKDFTRNSNLANHHRIHTGEKPYR* +>line40834 NM_001145434 c.313delA p.N106Ifs*4 protein-altering (position 106-577 changed from NQLGLTFQLHLSELQLFQAERNISGCKHVEKPINNSLVSPLQKIYSSVKSHILNKYRNDFDDSPFLPQEQKAQIREKPCECNEHGKAFRVSSRLANNQVIHTADNPYKCNECDKVFSNSSNLVQHQRIHTGEKPYKCHECGKLFNRISLLARHQRIHTGEKPYKCHECGKVFTQNSHLANHHRIHTGEKPYKCNECGKVFNRNAHLARHQKIHSGEKPYKCKECGKAFSGGSGLTAHLVIHTGEKLYKCNKCGKVFNRNAHLTRHQRIHTGEKPYECKECGKVFRHKFCLTNHHRMHTGEQPYKCNECGKAFRDCSGLTAHLLIHTGEKPYKCKECAKVFRHRLSLSNHQRFHTGEKPYRCDECGKDFTRNSNLANHHRIHTGEKPYKCSECHKVFSHNSHLARHRQIHTGEKSYKCNECGKVFSHKLYLKKHERIHTGEKPYRCHECGKDFTRNSNLANHHRIHTGEKPYR to INLD) +MLRRGHLAFRDVAIEFPQEEWKCLDPAQRTLYREVMVENYRNLVFLGICLPDLSVISMLEQRRDPRNLQSEVKIANNPGGRECIKGVNAESSSKLGSNAG +NKSLKINLD* +>line40835 NM_001145434 WILDTYPE +MLRRGHLAFRDVAIEFPQEEWKCLDPAQRTLYREVMVENYRNLVFLGICLPDLSVISMLEQRRDPRNLQSEVKIANNPGGRECIKGVNAESSSKLGSNAG +NKSLKNQLGLTFQLHLSELQLFQAERNISGCKHVEKPINNSLVSPLQKIYSSVKSHILNKYRNDFDDSPFLPQEQKAQIREKPCECNEHGKAFRVSSRLA +NNQVIHTADNPYKCNECDKVFSNSSNLVQHQRIHTGEKPYKCHECGKLFNRISLLARHQRIHTGEKPYKCHECGKVFTQNSHLANHHRIHTGEKPYKCNE +CGKVFNRNAHLARHQKIHSGEKPYKCKECGKAFSGGSGLTAHLVIHTGEKLYKCNKCGKVFNRNAHLTRHQRIHTGEKPYECKECGKVFRHKFCLTNHHR +MHTGEQPYKCNECGKAFRDCSGLTAHLLIHTGEKPYKCKECAKVFRHRLSLSNHQRFHTGEKPYRCDECGKDFTRNSNLANHHRIHTGEKPYKCSECHKV +FSHNSHLARHRQIHTGEKSYKCNECGKVFSHKLYLKKHERIHTGEKPYRCHECGKDFTRNSNLANHHRIHTGEKPYR* +>line40835 NM_001145434 c.413_414insCAA p.N140_S141insN protein-altering (position 140-141 has insertion N) +MLRRGHLAFRDVAIEFPQEEWKCLDPAQRTLYREVMVENYRNLVFLGICLPDLSVISMLEQRRDPRNLQSEVKIANNPGGRECIKGVNAESSSKLGSNAG +NKSLKNQLGLTFQLHLSELQLFQAERNISGCKHVEKPINNNSLVSPLQKIYSSVKSHILNKYRNDFDDSPFLPQEQKAQIREKPCECNEHGKAFRVSSRL +ANNQVIHTADNPYKCNECDKVFSNSSNLVQHQRIHTGEKPYKCHECGKLFNRISLLARHQRIHTGEKPYKCHECGKVFTQNSHLANHHRIHTGEKPYKCN +ECGKVFNRNAHLARHQKIHSGEKPYKCKECGKAFSGGSGLTAHLVIHTGEKLYKCNKCGKVFNRNAHLTRHQRIHTGEKPYECKECGKVFRHKFCLTNHH +RMHTGEQPYKCNECGKAFRDCSGLTAHLLIHTGEKPYKCKECAKVFRHRLSLSNHQRFHTGEKPYRCDECGKDFTRNSNLANHHRIHTGEKPYKCSECHK +VFSHNSHLARHRQIHTGEKSYKCNECGKVFSHKLYLKKHERIHTGEKPYRCHECGKDFTRNSNLANHHRIHTGEKPYR* +>line41319 NM_198988 WILDTYPE +MGSRPPCGATSSARRACQFPAPMAAAREPELPQEAPATEPAPPPACRFFLEGRCRFGARCRQPHPGAPAPPGREAQPEAGAKKPPLRTAADVIQRIRWDP +RLDPADFSVGYVDRFLGVREEPFSAFCWDQPLAALGPGVLAVPQHRVRFFRFHGRLVWDRASRTDLVFGSGSAAGRGPTILDAPNTEGAHGAEGAEWTLA +GTGQEAQAAPKRGSTRPLCTGHQEPGVEEPGELEAAQERALGTAADLGTLAPRGRLAGVTEEALKPTAATRTTLLGGKEAQALGVPGGSAETTEAEWGPA +AWPEDKRARLSVAAPCQPRPTHFVALMVTEPGLQAEVTKAQEYLVHVAPHCANFLVPSQNLHLTLALLRLAGAGEEAAAIGALRRALLAPGLNAPPRLSF +RKLVLLGPHVLCAPPSPTLESMAQVLSQRLEAEGLSTLQSPGQLHPHLTVAKVPHGSQVHLPKLEFTLSQEVGCQPLQTLWLCRIGRTGGPFQPLAEIRL +E* +>line41319 NM_198988 c.785_787del p.E262del protein-altering (position 262 changed from E to ) +MGSRPPCGATSSARRACQFPAPMAAAREPELPQEAPATEPAPPPACRFFLEGRCRFGARCRQPHPGAPAPPGREAQPEAGAKKPPLRTAADVIQRIRWDP +RLDPADFSVGYVDRFLGVREEPFSAFCWDQPLAALGPGVLAVPQHRVRFFRFHGRLVWDRASRTDLVFGSGSAAGRGPTILDAPNTEGAHGAEGAEWTLA +GTGQEAQAAPKRGSTRPLCTGHQEPGVEEPGELEAAQERALGTAADLGTLAPRGRLAGVTEALKPTAATRTTLLGGKEAQALGVPGGSAETTEAEWGPAA +WPEDKRARLSVAAPCQPRPTHFVALMVTEPGLQAEVTKAQEYLVHVAPHCANFLVPSQNLHLTLALLRLAGAGEEAAAIGALRRALLAPGLNAPPRLSFR +KLVLLGPHVLCAPPSPTLESMAQVLSQRLEAEGLSTLQSPGQLHPHLTVAKVPHGSQVHLPKLEFTLSQEVGCQPLQTLWLCRIGRTGGPFQPLAEIRLE +* +>line41498 NM_001297600 WILDTYPE +MGGRRAPLKRRLLSRPSRIDPSGRQSCFSGDHLLPLTHSSLLHKRPMSDEGSRGSRLPLALPPASQGCSSGGGGGGSSAGGSGNSRPPRNLQGLLQMAIT +AGSEEPDPPPEPMSEERRQWLQEAMSAAFRGQREEVEQMKSCLRVLSQPMPPTAGEAEQAADQQEREGALELLADLCENMDNAADFCQLSGMHLLVGRYL +EAGAAGLRWRAAQLIGTCSQNVAAIQEQVLGLGALRKLLRLLDRDACDTVRVKALFAISCLVREQEAGLLQFLRLDGFSVLMRAMQQQVQKLKVKSAFLL +QNLLVGHPEHKGTLCSMGMVQQLVALVRTEHSPFHEHVLGALCSLVTDFPQGVRECREPELGLEELLRHRCQLLQQHEEYQEELEFCEKLLQTCFSSPAD +DSMDR* +>line41498 NM_001297600 c.228_229insGGCGGCGGC p.G76_S77insGGG protein-altering (position 76-77 has insertion GGG) +MGGRRAPLKRRLLSRPSRIDPSGRQSCFSGDHLLPLTHSSLLHKRPMSDEGSRGSRLPLALPPASQGCSSGGGGGGGGGSSAGGSGNSRPPRNLQGLLQM +AITAGSEEPDPPPEPMSEERRQWLQEAMSAAFRGQREEVEQMKSCLRVLSQPMPPTAGEAEQAADQQEREGALELLADLCENMDNAADFCQLSGMHLLVG +RYLEAGAAGLRWRAAQLIGTCSQNVAAIQEQVLGLGALRKLLRLLDRDACDTVRVKALFAISCLVREQEAGLLQFLRLDGFSVLMRAMQQQVQKLKVKSA +FLLQNLLVGHPEHKGTLCSMGMVQQLVALVRTEHSPFHEHVLGALCSLVTDFPQGVRECREPELGLEELLRHRCQLLQQHEEYQEELEFCEKLLQTCFSS +PADDSMDR* +>line41550 NM_001199824 WILDTYPE +MERRASETPEDGDPEEDTATALQRLVELTTSRVTPVRSLRDQYHLIRKLGSGSYGRVLLAQPHQGGPAVALKLLRRDLVLRSTFLREFCVGRCVSAHPGL +LQTLAGPLQTPRYFAFAQEYAPCGDLSGMLQERGLPELLVKRVVAQLAGALDFLHSRGLVHADVKPDNVLVFDPVCSRVALGDLGLTRPEGSPTPAPPVP +LPTAPPELCLLLPPDTLPLRPAVDSWGLGVLLFCAATACFPWDVALAPNPEFEAFAGWVTTKPQPPQPPPPWDQFAPPALALLQGLLDLDPETRSPPLAV +LDFLGDDWGLQGNREGPGFWGAPCPMRTGRREAQAWRSGQMRVMTAKVVGGRGQMGELP +>line41550 NM_001199824 c.954dupG p.F319Vfs*42 protein-altering (position 319-359 changed from FWGAPCPMRTGRREAQAWRSGQMRVMTAKVVGGRGQMGELP to VLGSAVSYEDREEGGSSLEEWTDEGDDSKSGGRTGTDGGAP*) +MERRASETPEDGDPEEDTATALQRLVELTTSRVTPVRSLRDQYHLIRKLGSGSYGRVLLAQPHQGGPAVALKLLRRDLVLRSTFLREFCVGRCVSAHPGL +LQTLAGPLQTPRYFAFAQEYAPCGDLSGMLQERGLPELLVKRVVAQLAGALDFLHSRGLVHADVKPDNVLVFDPVCSRVALGDLGLTRPEGSPTPAPPVP +LPTAPPELCLLLPPDTLPLRPAVDSWGLGVLLFCAATACFPWDVALAPNPEFEAFAGWVTTKPQPPQPPPPWDQFAPPALALLQGLLDLDPETRSPPLAV +LDFLGDDWGLQGNREGPGVLGSAVSYEDREEGGSSLEEWTDEGDDSKSGGRTGTDGGAP* +>line41560 NM_203374 WILDTYPE +MAAARPEAQSRSSPTPESRSQEPLDLVLVPDDCRPGTPPSDLIEIQVVKVTDTTLVPEPPEPGSFHCALCPAAFRLVSELLFHEHGHLAGAEGGGQGGDP +SRCHVCGHSCPGPASLRAHYSLHTGERPYRCALCPRAFKALAPLLRHQHRHGVEPGTSRRPPDTAAVAEQRPGVAPERAEVVMAAAAAGAAVGKPFACRF +CAKPFRRSSDMRDHERVHTGERPYHCGICGKGFTQSSVLSGHARIHTGERPFRCTLCDRTFNNSSNFRKHQRTHFHGPGPGLGDSGGQLGSSAAEGSGSG +CGVGDPAEEGRGETAKVKVEADQ* +>line41560 NM_203374 c.563_565del p.A188del protein-altering (position 188 changed from A to ) +MAAARPEAQSRSSPTPESRSQEPLDLVLVPDDCRPGTPPSDLIEIQVVKVTDTTLVPEPPEPGSFHCALCPAAFRLVSELLFHEHGHLAGAEGGGQGGDP +SRCHVCGHSCPGPASLRAHYSLHTGERPYRCALCPRAFKALAPLLRHQHRHGVEPGTSRRPPDTAAVAEQRPGVAPERAEVVMAAAAGAAVGKPFACRFC +AKPFRRSSDMRDHERVHTGERPYHCGICGKGFTQSSVLSGHARIHTGERPFRCTLCDRTFNNSSNFRKHQRTHFHGPGPGLGDSGGQLGSSAAEGSGSGC +GVGDPAEEGRGETAKVKVEADQ* +>line41732 NM_001146327 WILDTYPE +MYQPEDDNNSDVTSDDDMTRNRRESSPPHSVHSFSGDRDWDRRGRSRDMEPRDRWSHTRNPRSRMPPRDLSLPVVAKTSFEMDREDDRDSRAYESRSQDA +ESYQNVVDLAEDRKPHNTIQDNMENYRKLLSLGFLAQDSVPAEKRNTEMLDNLPSAGSQFPDFKHLGTFLVFEELVTFEDVLVDFSPEELSSLSAAQRNL +YREVMLENYRNLVSLGHQFSKPDIISRLEEEESYAMETDSRHTVICQGESHDDPLEPHQGNQEKLLTPITMNDPKTLTPERSYGSDEFERSSNLSKQSKD +PLGKDPQEGTAPGICTSPQSASQENKHNRCEFCKRTFSTQVALRRHERIHTGKKPYECKQCAEAFYLMPHLNRHQKTHSGRKTSGCNEGRKPSVQCANLC +ERVRIHSQEDYFECFQCGKAFLQNVHLLQHLKAHEAARVLPPGLSHSKTYLIRYQRKHDYVGERACQCCDCGRVFSRNSYLIQHYRTHTQERPYQCQLCG +KCFGRPSYLTQHYQLHSQEKTVECDHC* +>line41732 NM_001146327 c.1469_1470del p.Q490Rfs*31 protein-altering (position 490-526 changed from QERPYQCQLCGKCFGRPSYLTQHYQLHSQEKTVECDH to REALPVSAMWEMFRPTLIPHSTLSTPFSREN) +MYQPEDDNNSDVTSDDDMTRNRRESSPPHSVHSFSGDRDWDRRGRSRDMEPRDRWSHTRNPRSRMPPRDLSLPVVAKTSFEMDREDDRDSRAYESRSQDA +ESYQNVVDLAEDRKPHNTIQDNMENYRKLLSLGFLAQDSVPAEKRNTEMLDNLPSAGSQFPDFKHLGTFLVFEELVTFEDVLVDFSPEELSSLSAAQRNL +YREVMLENYRNLVSLGHQFSKPDIISRLEEEESYAMETDSRHTVICQGESHDDPLEPHQGNQEKLLTPITMNDPKTLTPERSYGSDEFERSSNLSKQSKD +PLGKDPQEGTAPGICTSPQSASQENKHNRCEFCKRTFSTQVALRRHERIHTGKKPYECKQCAEAFYLMPHLNRHQKTHSGRKTSGCNEGRKPSVQCANLC +ERVRIHSQEDYFECFQCGKAFLQNVHLLQHLKAHEAARVLPPGLSHSKTYLIRYQRKHDYVGERACQCCDCGRVFSRNSYLIQHYRTHTREALPVSAMWE +MFRPTLIPHSTLSTPFSRENC* +>line41818 NM_001144068 WILDTYPE +MAAAEPMGPAQVPMNSEVIVDPIQGQVNFEDVFVYFSQEEWVLLDEAQRLLYRDVMLENFALMASLGCWHGMEDEEIPFEQSFSIGMSQIRIPKGGPSTQ +KAYPCGTCGLVLKDILHLAEHQETHPGQKPYMCVLCGKQFCFSANLHQHQKQHSGEKPFRSDKSRPFLLNNCAVQSMEMSFVTGEACKDFLASSSIFEHH +APHNEWKPHSNTKCEEASHCGKRHYKCSECGKTFSRKDSLVQHQRVHTGERPYECGECGKTFSRKPILAQHQRIHTGEMPYECGICGKVFNHSSNLIVHQ +RVHTGARPYKCSECGKAYSHKSTLVQHESIHTGERPYECSECGKYFGHKYRLIKHWSVHTGARPYECIACGKFFSQSSDLIAHQRVHNGEKPYVCSECGK +AFSHKHVLVQHHRIHTGERPYKCSECGKAFRQRASLIRHWKIHTGERP* +>line41818 NM_001144068 c.11_12insGGC p.A4_E5insA protein-altering (position 4-5 has insertion A) +MAAAAEPMGPAQVPMNSEVIVDPIQGQVNFEDVFVYFSQEEWVLLDEAQRLLYRDVMLENFALMASLGCWHGMEDEEIPFEQSFSIGMSQIRIPKGGPST +QKAYPCGTCGLVLKDILHLAEHQETHPGQKPYMCVLCGKQFCFSANLHQHQKQHSGEKPFRSDKSRPFLLNNCAVQSMEMSFVTGEACKDFLASSSIFEH +HAPHNEWKPHSNTKCEEASHCGKRHYKCSECGKTFSRKDSLVQHQRVHTGERPYECGECGKTFSRKPILAQHQRIHTGEMPYECGICGKVFNHSSNLIVH +QRVHTGARPYKCSECGKAYSHKSTLVQHESIHTGERPYECSECGKYFGHKYRLIKHWSVHTGARPYECIACGKFFSQSSDLIAHQRVHNGEKPYVCSECG +KAFSHKHVLVQHHRIHTGERPYKCSECGKAFRQRASLIRHWKIHTGERP* +>line41829 NM_198542 WILDTYPE +MAAATLRDPAQQGYVTFEDVAVYFSQEEWRLLDDAQRLLYRNVMLENFTLLASLGLASSKTHEITQLESWEEPFMPAWEVVTSAILRGSWQGAKAEAAAE +QSASVEVPSSNVQQHQKQHCGEKPLKRQEGRVPVLRSCRVHLSEKSLQSREVGKDLLTSSGVLKHQVTHTGEKSHRSSKSREAFHAGKRHYKCSECGKAF +GQKYLLVQHQRLHTGEKPYECSECGKLFSHKSNLFIHQIVHTGERPYGCSDCGKSFSRNADLIQHQRVHTGEKPFTCSECGKAFRHNSTLVQHHRIHTGV +RPYECSECGKLFSFNSSLMKHQRVHTGERPYKCSECGKFYSHKSSLINHWRVHTGERPYECSECGKFFSQSSSLMQHRKVHTGEKPFKCNECGRFFSENS +SLVKHQRVHTGAKPYECRECGKFFRHSSSLVKHRRIHTGEIQ* +>line41829 NM_198542 c.290_291AG p.A97E protein-altering (position 97 changed from A to E) +MAAATLRDPAQQGYVTFEDVAVYFSQEEWRLLDDAQRLLYRNVMLENFTLLASLGLASSKTHEITQLESWEEPFMPAWEVVTSAILRGSWQGAKAEEAAE +QSASVEVPSSNVQQHQKQHCGEKPLKRQEGRVPVLRSCRVHLSEKSLQSREVGKDLLTSSGVLKHQVTHTGEKSHRSSKSREAFHAGKRHYKCSECGKAF +GQKYLLVQHQRLHTGEKPYECSECGKLFSHKSNLFIHQIVHTGERPYGCSDCGKSFSRNADLIQHQRVHTGEKPFTCSECGKAFRHNSTLVQHHRIHTGV +RPYECSECGKLFSFNSSLMKHQRVHTGERPYKCSECGKFYSHKSSLINHWRVHTGERPYECSECGKFFSQSSSLMQHRKVHTGEKPFKCNECGRFFSENS +SLVKHQRVHTGAKPYECRECGKFFRHSSSLVKHRRIHTGEIQ* +>line41851 NM_001322306 WILDTYPE +MLGFPPGRPQLPVQLRPQTRMATALRDPASVPIATEVLFKLTQEQLCPHIWTIGTASFPSSLGRCCGLSASLLPLSSQPKSILGLISSWSHVVAQLGLGE +VPSVLHRMFMTPASARWDQRGPGLHEWHLGKGMSSGCWCGVEHEETPSEQRISGERVPQFRTSKEGSSSQNADSCEICCLVLRDILHLAEHQGTNCGQKL +HTCGKQFYISANLQQHQRQHITEAPFRSYVDTASFTQSCIVHVSEKPFTCREIRKDFLANMRFLHQDATQTGEKPNNSNKCAVAFYSGKSHHNWGKCSKA +FSHIDTLVQDQRILTREGLFECSKCGKACTRRCNLIQHQKVHSEERPYECNECGKFFTYYSSFIIHQRVHTGERPYACPECGKSFSQIYSLNSHRKVHTG +ERPYECGECGKSFSQRSNLMQHRRVHTGERPYECSECGKSFSQNFSLIYHQRVHTGERPHECNECGKSFSRSSSLIHHRRLHTGERPYECSKCGKSFKQS +SSFSSHRKVHTGERPYVCGECGKSFSHSSNLKNHQRVHTGERPVECSECSKSFSCKSNLIKHLRVHTGERPYECSECGKSFSQSSSLIQHRRVHTGKRPY +QCSQCGKSFGCKSVLIQHQRVHIGEKP* +>line41851 NM_001322306 c.310delG p.V104Ffs*6 protein-altering (position 104-627 changed from VLHRMFMTPASARWDQRGPGLHEWHLGKGMSSGCWCGVEHEETPSEQRISGERVPQFRTSKEGSSSQNADSCEICCLVLRDILHLAEHQGTNCGQKLHTCGKQFYISANLQQHQRQHITEAPFRSYVDTASFTQSCIVHVSEKPFTCREIRKDFLANMRFLHQDATQTGEKPNNSNKCAVAFYSGKSHHNWGKCSKAFSHIDTLVQDQRILTREGLFECSKCGKACTRRCNLIQHQKVHSEERPYECNECGKFFTYYSSFIIHQRVHTGERPYACPECGKSFSQIYSLNSHRKVHTGERPYECGECGKSFSQRSNLMQHRRVHTGERPYECSECGKSFSQNFSLIYHQRVHTGERPHECNECGKSFSRSSSLIHHRRLHTGERPYECSKCGKSFKQSSSFSSHRKVHTGERPYVCGECGKSFSHSSNLKNHQRVHTGERPVECSECSKSFSCKSNLIKHLRVHTGERPYECSECGKSFSQSSSLIQHRRVHTGKRPYQCSQCGKSFGCKSVLIQHQRVHIGEKP to FFTGCS) +MLGFPPGRPQLPVQLRPQTRMATALRDPASVPIATEVLFKLTQEQLCPHIWTIGTASFPSSLGRCCGLSASLLPLSSQPKSILGLISSWSHVVAQLGLGE +VPSFFTGCS* +>line41988 NM_207469 WILDTYPE +MKFLLLVLAALGFLTQVIPASAGGSKCVSNTPGYCRTCCHWGETALFMCNASRKCCISYSFLPKPDLPQLIGNHWQSRRRNTQRKDKKQQTTVTS* +>line41988 NM_207469 c.17_22del p.V7_L8del protein-altering (position 7-8 changed from VL to ) +MKFLLLAALGFLTQVIPASAGGSKCVSNTPGYCRTCCHWGETALFMCNASRKCCISYSFLPKPDLPQLIGNHWQSRRRNTQRKDKKQQTTVTS* +>line42027 NM_004609 WILDTYPE +MAFALLRPVGAHVLYPDVRLLSEDEENRSESDASDQSFGCCEGPEAARRGPGPGGGRRAGGGGGAGPVVVVRQRQAANARERDRTQSVNTAFTALRTLIP +TEPVDRKLSKIETVRLASSYIAHLANVLLLGDSADDGQPCFRAAGSAKGAVPAAADGGRQPRSICTFCLSNQRKGGGRRDLGGSCLKVRGVAPLRGPRR* + +>line42027 NM_004609 c.339_340GC p.V114L protein-altering (position 114 changed from V to L) +MAFALLRPVGAHVLYPDVRLLSEDEENRSESDASDQSFGCCEGPEAARRGPGPGGGRRAGGGGGAGPVVVVRQRQAANARERDRTQSVNTAFTALRTLIP +TEPVDRKLSKIETLRLASSYIAHLANVLLLGDSADDGQPCFRAAGSAKGAVPAAADGGRQPRSICTFCLSNQRKGGGRRDLGGSCLKVRGVAPLRGPRR* + +>line43590 NM_025176 WILDTYPE +MDEEENHYVSQLREVYSSCDTTGTGFLDRQELTQLCLKLHLEQQLPVLLQTLLGNDHFARVNFEEFKEGFVAVLSSNAGVRPSDEDSSSLESAASSAIPP +KYVNGSKWYGRRSRPELCDAATEARRVPEQQTQASLKSHLWRSASLESVESPKSDEEAESTKEAQNELFEAQGQLQTWDSEDFGSPQKSCSPSFDTPESQ +IRGVWEELGVGSSGHLSEQELAVVCQSVGLQGLEKEELEDLFNKLDQDGDGKVSLEEFQLGLFSHEPALLLESSTRVKPSKAWSHYQVPEESGCHTTTTS +SLVSLCSSLRLFSSIDDGSGFAFPDQVLAMWTQEGIQNGREILQSLDFSVDEKVNLLELTWALDNELMTVDSAVQQAALACYHQELSYQQGQVEQLARER +DKARQDLERAEKRNLEFVKEMDDCHSTLEQLTEKKIKHLEQGYRERLSLLRSEVEAERELFWEQAHRQRAALEWDVGRLQAEEAGLREKLTLALKENSRL +QKEIVEVVEKLSDSERLALKLQKDLEFVLKDKLEPQSAELLAQEERFAAVLKEYELKCRDLQDRNDELQAELEGLWARLPKNRHSPSWSPDGRRRQLPGL +GPAGISFLGNSAPVSIETELMMEQVKEHYQDLRTQLETKVNYYEREIAALKRNFEKERKDMEQARRREVSVLEGQKADLEELHEKSQEVIWGLQEQLQDT +ARGPEPEQMGLAPCCTQALCGLALRHHSHLQQIRREAEAELSGELSGLGALPARRDLTLELEEPPQGPLPRGSQRSEQLELERALKLQPCASEKRAQMCV +SLALEEEELELARGKRVDGPSLEAEMQALPKDGLVAGSGQEGTRGLLPLRPGCGERPLAWLAPGDGRESEEAAGAGPRRRQAQDTEATQSPAPAPAPASH +GPSERWSRMQPCGVDGDIVPKEPEPFGASAAGLEQPGARELPLLGTERDASQTQPRMWEPPLRPAASCRGQAERLQAIQEERARSWSRGTQEQASEQQAR +AEGALEPGCHKHSVEVARRGSLPSHLQLADPQGSWQEQLAAPEEGETKIALEREKDDMETKLLHLEDVVRALEKHVDLRENDRLEFHRLSEENTLLKNDL +GRVRQELEAAESTHDAQRKEIEVLKKDKEKACSEMEVLNRQNQNYKDQLSQLNVRVLQLGQEASTHQAQNEEHRVTIQMLTQSLEEVVRSGQQQSDQIQK +LRVELECLNQEHQSLQLPWSELTQTLEESQDQVQGAHLRLRQAQAQHLQEVRLVPQDRVAELHRLLSLQGEQARRRLDAQREEHEKQLKATEERVEEAEM +ILKNMEMLLQEKVDKLKEQFEKNTKSDLLLKELYVENAHLVRALQATEEKQRGAEKQSRLLEEKVRALNKLVSRIAPAALSV* +>line43590 NM_025176 c.2872_2877del p.W958_E959del protein-altering (position 958-959 changed from WE to ) +MDEEENHYVSQLREVYSSCDTTGTGFLDRQELTQLCLKLHLEQQLPVLLQTLLGNDHFARVNFEEFKEGFVAVLSSNAGVRPSDEDSSSLESAASSAIPP +KYVNGSKWYGRRSRPELCDAATEARRVPEQQTQASLKSHLWRSASLESVESPKSDEEAESTKEAQNELFEAQGQLQTWDSEDFGSPQKSCSPSFDTPESQ +IRGVWEELGVGSSGHLSEQELAVVCQSVGLQGLEKEELEDLFNKLDQDGDGKVSLEEFQLGLFSHEPALLLESSTRVKPSKAWSHYQVPEESGCHTTTTS +SLVSLCSSLRLFSSIDDGSGFAFPDQVLAMWTQEGIQNGREILQSLDFSVDEKVNLLELTWALDNELMTVDSAVQQAALACYHQELSYQQGQVEQLARER +DKARQDLERAEKRNLEFVKEMDDCHSTLEQLTEKKIKHLEQGYRERLSLLRSEVEAERELFWEQAHRQRAALEWDVGRLQAEEAGLREKLTLALKENSRL +QKEIVEVVEKLSDSERLALKLQKDLEFVLKDKLEPQSAELLAQEERFAAVLKEYELKCRDLQDRNDELQAELEGLWARLPKNRHSPSWSPDGRRRQLPGL +GPAGISFLGNSAPVSIETELMMEQVKEHYQDLRTQLETKVNYYEREIAALKRNFEKERKDMEQARRREVSVLEGQKADLEELHEKSQEVIWGLQEQLQDT +ARGPEPEQMGLAPCCTQALCGLALRHHSHLQQIRREAEAELSGELSGLGALPARRDLTLELEEPPQGPLPRGSQRSEQLELERALKLQPCASEKRAQMCV +SLALEEEELELARGKRVDGPSLEAEMQALPKDGLVAGSGQEGTRGLLPLRPGCGERPLAWLAPGDGRESEEAAGAGPRRRQAQDTEATQSPAPAPAPASH +GPSERWSRMQPCGVDGDIVPKEPEPFGASAAGLEQPGARELPLLGTERDASQTQPRMPPLRPAASCRGQAERLQAIQEERARSWSRGTQEQASEQQARAE +GALEPGCHKHSVEVARRGSLPSHLQLADPQGSWQEQLAAPEEGETKIALEREKDDMETKLLHLEDVVRALEKHVDLRENDRLEFHRLSEENTLLKNDLGR +VRQELEAAESTHDAQRKEIEVLKKDKEKACSEMEVLNRQNQNYKDQLSQLNVRVLQLGQEASTHQAQNEEHRVTIQMLTQSLEEVVRSGQQQSDQIQKLR +VELECLNQEHQSLQLPWSELTQTLEESQDQVQGAHLRLRQAQAQHLQEVRLVPQDRVAELHRLLSLQGEQARRRLDAQREEHEKQLKATEERVEEAEMIL +KNMEMLLQEKVDKLKEQFEKNTKSDLLLKELYVENAHLVRALQATEEKQRGAEKQSRLLEEKVRALNKLVSRIAPAALSV* +>line43988 NM_007367 WILDTYPE +MSLKLQASNVTNKNDPKSINSRVFIGNLNTALVKKSDVETIFSKYGRVAGCSVHKGYAFVQYSNERHARAAVLGENGRVLAGQTLDINMAGEPKPDRPKG +LKRAASAIYRLFDYRGRLSPVPVPRAVPVKRPRVTVPLVRRVKTNVPVKLFARSTAVTTSSAKIKLKSSELQAIKTELTQIKSNIDALLSRLEQIAAEQK +ANPDGKKKGDGGGAGGGGGGGGSGGGGSGGGGGGGSSRPPAPQENTTSEAGLPQGEARTRDDGDEEGLLTHSEEELEHSQDTDADDGALQ* +>line43988 NM_007367 c.641_642insCAG p.A214_G215insS protein-altering (position 214-215 has insertion S) +MSLKLQASNVTNKNDPKSINSRVFIGNLNTALVKKSDVETIFSKYGRVAGCSVHKGYAFVQYSNERHARAAVLGENGRVLAGQTLDINMAGEPKPDRPKG +LKRAASAIYRLFDYRGRLSPVPVPRAVPVKRPRVTVPLVRRVKTNVPVKLFARSTAVTTSSAKIKLKSSELQAIKTELTQIKSNIDALLSRLEQIAAEQK +ANPDGKKKGDGGGASGGGGGGGGSGGGGSGGGGGGGSSRPPAPQENTTSEAGLPQGEARTRDDGDEEGLLTHSEEELEHSQDTDADDGALQ* +>line44645 NM_001127695 WILDTYPE +MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGP +FLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQ +GLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQD +LGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVD +MACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY* +>line44645 NM_001127695 c.31_33del p.L19del protein-altering (position 19 changed from L to ) +MIRAAPPPLFLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPF +LVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQG +LAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDL +GNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDM +ACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY* +>line44745 NM_001281778 WILDTYPE +MHPQSLAEEEIKTEQEVVEGMDISTRSKDPGSAERTAQKRKFPSPPHSSNGHSPQDTSTSPIKKKKKPGLLNSNNKEQDGRNDFYCWVCHREGQVLCCEL +CPRVYHAKCLRLTSEPEGDWFCPECEKITVAECIETQSKAMTMLTIEQLSYLLKFAIQKMKQPGTDAFQKPVPLEQHPDYAEYIFHPMDLCTLEKNAKKK +MYGCTEAFLADAKWILHNCIIYNGGNHKLTQIAKVVIKICEHEMNEIEVCPECYLAACQKRDNWFCEPCSNPHPLVWAKLKGFPFWPAKALRDKDGQVDA +RFFGQHDRAWVPINNCYLMSKEIPFSVKKTKSIFNSAMQEMEVYVENIRRKFGVFNYSPFRTPYTPNSQYQMLLDPTNPSAGTAKIDKQEKVKLNFDMTA +SPKILMSKPVLSGGTGRRISLSDMPRSPMSTNSSVHTGSDVEQDAEKKATSSHFSASEESMDFLDKSTASPASTKTGQAGSLSGSPKPFSPQLSAPITTK +TDKTSTTGSILNLNLDRSKAEMDLKELSESVQQQSTPVPLISPKRQIRSRFQLNLDKTIESCKAQLGINEISEDVYTAVEHSDSEDSEKSDSSDSEYISD +DEQKSKNEPEDTEDKEGCQMDKEPSAVKKKPKPTNPVEIKEELKSTSPASEKADPGAVKDKASPEPEKDFSEKAKPSPHPIKDKLKGKDETDSPTVHLGL +DSDSESELVIDLGEDHSGREGRKNKKEPKEPSPKQDVVGKTPPSTTVGSHSPPETPVLTRSSAQTSAAGATATTSTSSTVTVTAPAPAATGSPVKKQRPL +LPKETAPAVQRVVWNSSSKFQTSSQKWHMQKMQRQQQQQQQQNQQQQPQSSQGTRYQTRQAVKAVQQKEITQSPSTSTITLVTSTQSSPLVTSSGSMSTL +VSSVNADLPIATASADVAADIAKYTSKMMDAIKGTMTEIYNDLSKNTTGSTIAEIRRLRIEIEKLQWLHQQELSEMKHNLELTMAEMRQSLEQERDRLIA +EVKKQLELEKQQAVDETKKKQWCANCKKEAIFYCCWNTSYCDYPCQQAHWPEHMKSCTQSATAPQQEADAEVNTETLNKSSQGSSSSTQSAPSETASASK +EKETSAEKSKESGSTLDLSGSRETPSSILLGSNQGSDHSRSNKSSWSSSDEKRGSTRSDHNTSTSTKSLLPKESRLDTFWD* +>line44745 NM_001281778 c.2523_2525del p.Q842del protein-altering (position 842 changed from Q to ) +MHPQSLAEEEIKTEQEVVEGMDISTRSKDPGSAERTAQKRKFPSPPHSSNGHSPQDTSTSPIKKKKKPGLLNSNNKEQDGRNDFYCWVCHREGQVLCCEL +CPRVYHAKCLRLTSEPEGDWFCPECEKITVAECIETQSKAMTMLTIEQLSYLLKFAIQKMKQPGTDAFQKPVPLEQHPDYAEYIFHPMDLCTLEKNAKKK +MYGCTEAFLADAKWILHNCIIYNGGNHKLTQIAKVVIKICEHEMNEIEVCPECYLAACQKRDNWFCEPCSNPHPLVWAKLKGFPFWPAKALRDKDGQVDA +RFFGQHDRAWVPINNCYLMSKEIPFSVKKTKSIFNSAMQEMEVYVENIRRKFGVFNYSPFRTPYTPNSQYQMLLDPTNPSAGTAKIDKQEKVKLNFDMTA +SPKILMSKPVLSGGTGRRISLSDMPRSPMSTNSSVHTGSDVEQDAEKKATSSHFSASEESMDFLDKSTASPASTKTGQAGSLSGSPKPFSPQLSAPITTK +TDKTSTTGSILNLNLDRSKAEMDLKELSESVQQQSTPVPLISPKRQIRSRFQLNLDKTIESCKAQLGINEISEDVYTAVEHSDSEDSEKSDSSDSEYISD +DEQKSKNEPEDTEDKEGCQMDKEPSAVKKKPKPTNPVEIKEELKSTSPASEKADPGAVKDKASPEPEKDFSEKAKPSPHPIKDKLKGKDETDSPTVHLGL +DSDSESELVIDLGEDHSGREGRKNKKEPKEPSPKQDVVGKTPPSTTVGSHSPPETPVLTRSSAQTSAAGATATTSTSSTVTVTAPAPAATGSPVKKQRPL +LPKETAPAVQRVVWNSSSKFQTSSQKWHMQKMQRQQQQQQQNQQQQPQSSQGTRYQTRQAVKAVQQKEITQSPSTSTITLVTSTQSSPLVTSSGSMSTLV +SSVNADLPIATASADVAADIAKYTSKMMDAIKGTMTEIYNDLSKNTTGSTIAEIRRLRIEIEKLQWLHQQELSEMKHNLELTMAEMRQSLEQERDRLIAE +VKKQLELEKQQAVDETKKKQWCANCKKEAIFYCCWNTSYCDYPCQQAHWPEHMKSCTQSATAPQQEADAEVNTETLNKSSQGSSSSTQSAPSETASASKE +KETSAEKSKESGSTLDLSGSRETPSSILLGSNQGSDHSRSNKSSWSSSDEKRGSTRSDHNTSTSTKSLLPKESRLDTFWD* +>line44843 NM_001348187 WILDTYPE +MVLAQRRRGGCEKLRAGPQAVLASGSGFCDNMLADLGLIGTIGEDDEVPVEPESDSGDEEEEGPIVLGRRQKALGKNRSADFNPDFVFTEKEGTYDGSWA +LADVMSQLKKKRAATTLDEKIEKVRKKRKTEDKEAKSGKLEKEKEAKEGSEPKEQEDLQENDEEGSEDEASETDYSSADENILTKADTLKVKDRKKKKKK +GQEAGGFFEDASQYDENLSFQDMNLSRPLLKAITAMGFKQPTPIQKACIPVGLLGKDICACAATGTGKTAAFALPVLERLIYKPRQAPVTRVLVLVPTRE +LGIQVHSVTRQLAQFCNITTCLAVGGLDVKSQEAALRAAPDILIATPGRLIDHLHNCPSFHLSSIEVLILDEADSPPVDTAWPHAPTLWLLHLPFPQPGA +ISCPFRMLDEYFEEQMKEIIRMCSHHRQTMLFSATMTDEVKDLASVSLKNPVRIFVNSNTDVAPFLRQEFIRIRPNREGDREAIVAALLTRTFTDHVMLF +TQTKKQAHRMHILLGLMGLQVGELHGNLSQTQRLEALRRFKDEQIDILVATDVAARGLDIEGVKTVINFTMPNTIKHYVHRVGRTARAGRAGRSVSLVGE +DERKMLKEIVKAAKAPVKARILPQDVILKFRDKIEKMEKDVYAVLQLEAEEKEMQQSEAQINTAKRLLEKGKEAVVQEPERSWFQTKEERKKEKIAKALQ +EFDLALRGKKKRKKFMKDAKKKGEMTAEERSQFEILKAQMFAERLAKRNRRAKRARAMPEEEPVRGPAKKQKQGKKSVFDEELTNTSKKALKQYRAGPSF +EERKQLGLPHQRRGGNFKSKSRYKRRK* +>line44843 NM_001348187 c.582_584del p.K200del protein-altering (position 200 changed from K to ) +MVLAQRRRGGCEKLRAGPQAVLASGSGFCDNMLADLGLIGTIGEDDEVPVEPESDSGDEEEEGPIVLGRRQKALGKNRSADFNPDFVFTEKEGTYDGSWA +LADVMSQLKKKRAATTLDEKIEKVRKKRKTEDKEAKSGKLEKEKEAKEGSEPKEQEDLQENDEEGSEDEASETDYSSADENILTKADTLKVKDRKKKKKG +QEAGGFFEDASQYDENLSFQDMNLSRPLLKAITAMGFKQPTPIQKACIPVGLLGKDICACAATGTGKTAAFALPVLERLIYKPRQAPVTRVLVLVPTREL +GIQVHSVTRQLAQFCNITTCLAVGGLDVKSQEAALRAAPDILIATPGRLIDHLHNCPSFHLSSIEVLILDEADSPPVDTAWPHAPTLWLLHLPFPQPGAI +SCPFRMLDEYFEEQMKEIIRMCSHHRQTMLFSATMTDEVKDLASVSLKNPVRIFVNSNTDVAPFLRQEFIRIRPNREGDREAIVAALLTRTFTDHVMLFT +QTKKQAHRMHILLGLMGLQVGELHGNLSQTQRLEALRRFKDEQIDILVATDVAARGLDIEGVKTVINFTMPNTIKHYVHRVGRTARAGRAGRSVSLVGED +ERKMLKEIVKAAKAPVKARILPQDVILKFRDKIEKMEKDVYAVLQLEAEEKEMQQSEAQINTAKRLLEKGKEAVVQEPERSWFQTKEERKKEKIAKALQE +FDLALRGKKKRKKFMKDAKKKGEMTAEERSQFEILKAQMFAERLAKRNRRAKRARAMPEEEPVRGPAKKQKQGKKSVFDEELTNTSKKALKQYRAGPSFE +ERKQLGLPHQRRGGNFKSKSRYKRRK* +>line46314 NM_199259 WILDTYPE +MNESPDPTDLAGVIIELGPNDSPQTSEFKGATEEAPAKESVLARLSKFEVEDAENVASYDSKIKKIVHSIVSSFAFGLFGVFLVLLDVTLILADLIFTDS +KLYIPLEYRSISLAIALFFLMDVLLRVFVERRQQYFSDLFNILDTAIIVILLLVDVVYIFFDIKLLRNIPRWTHLLRLLRLIILLRIFHLFHQKRQLEKL +IRRRVSENKRRYTRDGFDLDLTYVTERIIAMSFPSSGRQSFYRNPIKEVVRFLDKKHRNHYRVYNLCSERAYDPKHFHNRVVRIMIDDHNVPTLHQMVVF +TKEVNEWMAQDLENIVAIHCKGGTDRTGTMVCAFLIASEICSTAKESLYYFGERRTDKTHSEKFQGVKTPSQKRYVAYFAQVKHLYNWNLPPRRILFIKH +FIIYSIPRYVRDLKIQIEMEKKVVFSTISLGKCSVLDNITTDKILIDVFDGLPLYDDVKVQFFYSNLPTYYDNCSFYFWLHTSFIENNRLYLPKNELDNL +HKQKARRIYPSDFAVEILFGEKMTSSDVVAGSD* +>line46314 NM_199259 c.606_608del p.R204del protein-altering (position 204 changed from R to ) +MNESPDPTDLAGVIIELGPNDSPQTSEFKGATEEAPAKESVLARLSKFEVEDAENVASYDSKIKKIVHSIVSSFAFGLFGVFLVLLDVTLILADLIFTDS +KLYIPLEYRSISLAIALFFLMDVLLRVFVERRQQYFSDLFNILDTAIIVILLLVDVVYIFFDIKLLRNIPRWTHLLRLLRLIILLRIFHLFHQKRQLEKL +IRRVSENKRRYTRDGFDLDLTYVTERIIAMSFPSSGRQSFYRNPIKEVVRFLDKKHRNHYRVYNLCSERAYDPKHFHNRVVRIMIDDHNVPTLHQMVVFT +KEVNEWMAQDLENIVAIHCKGGTDRTGTMVCAFLIASEICSTAKESLYYFGERRTDKTHSEKFQGVKTPSQKRYVAYFAQVKHLYNWNLPPRRILFIKHF +IIYSIPRYVRDLKIQIEMEKKVVFSTISLGKCSVLDNITTDKILIDVFDGLPLYDDVKVQFFYSNLPTYYDNCSFYFWLHTSFIENNRLYLPKNELDNLH +KQKARRIYPSDFAVEILFGEKMTSSDVVAGSD* +>line47525 NM_181612 WILDTYPE +MRYYGSYYRGLGYGCGGFGGLGYGCGCGGYRYGSGYGGYRYGCCRPSCREGYGFSGFY* +>line47525 NM_181612 c.171delC p.Y58delinsTKKLADSHTLTPRSCPYASARRTLFSM protein-altering (position 58 changed from Y to TKKLADSHTLTPRSCPYASARRTLFSM) +MRYYGSYYRGLGYGCGGFGGLGYGCGCGGYRYGSGYGGYRYGCCRPSCREGYGFSGFTKKLADSHTLTPRSCPYASARRTLFSM* +>line47626 NM_001160306 WILDTYPE +MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTS +TEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAK +ACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVN +LLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLE +MLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKAGKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALL +TTGSLRASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSAST +TNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFI +EIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWT +DRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLP +ENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEV +AADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEP +KRPPPPRPVAPPTRPAPPQRPPPPSGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAF +PPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQVKTNGISDGKRESPLKIDPFEDLSFNLLAVSKAQLSVQTSPV +PTPDPKRLIQLPSATQSNVLSSVSCMPTMPPIPARSQSQENMRSSPNPFITGLTRTNPFSDRTAAPGNPFRAKSEESEATSWFSKEEPVTISPFPSLQPL +GHNKSRASSSLDGFKDSFDLQGQSTLKISNPKGWVTFEEEEDFGVKGKSKSACSDLLGNQPSSFSGSNLTLNDDWNKGTNVSFCVLPSRRPPPPPVPLLP +PGTSPPVDPFTTLASKASPTLDFTER* +>line47626 NM_001160306 c.3957_3958insAATACT p.V1319_L1320insNT protein-altering (position 1319-1320 has insertion NT) +MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTS +TEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAK +ACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVN +LLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLE +MLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKAGKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALL +TTGSLRASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSAST +TNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFI +EIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWT +DRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLP +ENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEV +AADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEP +KRPPPPRPVAPPTRPAPPQRPPPPSGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAF +PPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQVKTNGISDGKRESPLKIDPFEDLSFNLLAVSKAQLSVQTSPV +PTPDPKRLIQLPSATQSNVNTLSSVSCMPTMPPIPARSQSQENMRSSPNPFITGLTRTNPFSDRTAAPGNPFRAKSEESEATSWFSKEEPVTISPFPSLQ +PLGHNKSRASSSLDGFKDSFDLQGQSTLKISNPKGWVTFEEEEDFGVKGKSKSACSDLLGNQPSSFSGSNLTLNDDWNKGTNVSFCVLPSRRPPPPPVPL +LPPGTSPPVDPFTTLASKASPTLDFTER* +>line47706 NM_001320746 WILDTYPE +MNTMYVMMAQILRSHLIKATVIPNRVKMLPYFGIIRNRMMSTHKSKKKIREYYRLLNVEEGCSADEVRESFHKLAKQYHPDSGSNTADSATFIRIEKAYR +KVLSHVIEQTNASQSKGEEEEDVEKFKYKTPQHRHYLSFEGIGFGTPTQREKHYRQFRADRAAEQVMEYQKQKLQSQYFPDSVIVKNIRQSKQQKITQAI +ERLVEDLIQESMAKGDFDNLSGKGKPLKKFSDCSYIDPMTHNLNRILIDNGYQPEWILKQKEISDTIEQLREAILVSRKKLGNPMTPTEKKQWNHVCEQF +QENIRKLNKRINDFNLIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPNNLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF* +>line47706 NM_001320746 c.947_951del p.L316Cfs*10 protein-altering (position 316-387 changed from LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPNNLDQGEGEKTPEIKKGFLNWMNLWKFIKIRS to CSHPDQAKSP) +MNTMYVMMAQILRSHLIKATVIPNRVKMLPYFGIIRNRMMSTHKSKKKIREYYRLLNVEEGCSADEVRESFHKLAKQYHPDSGSNTADSATFIRIEKAYR +KVLSHVIEQTNASQSKGEEEEDVEKFKYKTPQHRHYLSFEGIGFGTPTQREKHYRQFRADRAAEQVMEYQKQKLQSQYFPDSVIVKNIRQSKQQKITQAI +ERLVEDLIQESMAKGDFDNLSGKGKPLKKFSDCSYIDPMTHNLNRILIDNGYQPEWILKQKEISDTIEQLREAILVSRKKLGNPMTPTEKKQWNHVCEQF +QENIRKLNKRINDFNCSHPDQAKSPF* +>line47729 NM_001291412 WILDTYPE +MATNIEQIFRSFVVSKFREIQQELSSGRNEGQLNGETNTPIEGNQAGDAAASARSLPNEEIVQKIEEVLSGVLDTELRYKPDKAQLLEIAKANAAAMCAK +AGVPLPPNLKPAPPPTIEEKVAKKSGGATIEELTEKCKQIAQSKEDDDVIVNKPHVSDEEEEEPPFYHHPFKLSEPKPIFFNLNIAAAKPTPPKSQVTLT +KEFPVSSGSQHRKKEADSVYGEWVPVEKNGEENKDDDNVFSSNLPSEPVDISTAMSERALAQKRLSENAFDLEAMSMLNRAQERIDAWAQLNSIPGQFTG +STGVQVLTQEQLANTGAQAWIKKDQFLRAAPVTGGMGAVLMRKMGWREGEGLGKNKEGNKEPILVDFKTDRKGLVAVGERAQKRSGNFSAAMKDLSGKHP +VSALMEICNKRRWQPPEFLLVHDSGPDHRKHFLFRVLRNGALTRPNCMFFLNRY* +>line47729 NM_001291412 c.1320dupA p.A441Sfs*12 protein-altering (position 441-454 changed from ALTRPNCMFFLNRY to SPYQTQLYVFLE) +MATNIEQIFRSFVVSKFREIQQELSSGRNEGQLNGETNTPIEGNQAGDAAASARSLPNEEIVQKIEEVLSGVLDTELRYKPDKAQLLEIAKANAAAMCAK +AGVPLPPNLKPAPPPTIEEKVAKKSGGATIEELTEKCKQIAQSKEDDDVIVNKPHVSDEEEEEPPFYHHPFKLSEPKPIFFNLNIAAAKPTPPKSQVTLT +KEFPVSSGSQHRKKEADSVYGEWVPVEKNGEENKDDDNVFSSNLPSEPVDISTAMSERALAQKRLSENAFDLEAMSMLNRAQERIDAWAQLNSIPGQFTG +STGVQVLTQEQLANTGAQAWIKKDQFLRAAPVTGGMGAVLMRKMGWREGEGLGKNKEGNKEPILVDFKTDRKGLVAVGERAQKRSGNFSAAMKDLSGKHP +VSALMEICNKRRWQPPEFLLVHDSGPDHRKHFLFRVLRNGSPYQTQLYVFLE* +>line47730 NM_001291412 WILDTYPE +MATNIEQIFRSFVVSKFREIQQELSSGRNEGQLNGETNTPIEGNQAGDAAASARSLPNEEIVQKIEEVLSGVLDTELRYKPDKAQLLEIAKANAAAMCAK +AGVPLPPNLKPAPPPTIEEKVAKKSGGATIEELTEKCKQIAQSKEDDDVIVNKPHVSDEEEEEPPFYHHPFKLSEPKPIFFNLNIAAAKPTPPKSQVTLT +KEFPVSSGSQHRKKEADSVYGEWVPVEKNGEENKDDDNVFSSNLPSEPVDISTAMSERALAQKRLSENAFDLEAMSMLNRAQERIDAWAQLNSIPGQFTG +STGVQVLTQEQLANTGAQAWIKKDQFLRAAPVTGGMGAVLMRKMGWREGEGLGKNKEGNKEPILVDFKTDRKGLVAVGERAQKRSGNFSAAMKDLSGKHP +VSALMEICNKRRWQPPEFLLVHDSGPDHRKHFLFRVLRNGALTRPNCMFFLNRY* +>line47730 NM_001291412 c.1332delA p.R444Sfs*7 protein-altering (position 444-454 changed from RPNCMFFLNRY to SPIVCFS) +MATNIEQIFRSFVVSKFREIQQELSSGRNEGQLNGETNTPIEGNQAGDAAASARSLPNEEIVQKIEEVLSGVLDTELRYKPDKAQLLEIAKANAAAMCAK +AGVPLPPNLKPAPPPTIEEKVAKKSGGATIEELTEKCKQIAQSKEDDDVIVNKPHVSDEEEEEPPFYHHPFKLSEPKPIFFNLNIAAAKPTPPKSQVTLT +KEFPVSSGSQHRKKEADSVYGEWVPVEKNGEENKDDDNVFSSNLPSEPVDISTAMSERALAQKRLSENAFDLEAMSMLNRAQERIDAWAQLNSIPGQFTG +STGVQVLTQEQLANTGAQAWIKKDQFLRAAPVTGGMGAVLMRKMGWREGEGLGKNKEGNKEPILVDFKTDRKGLVAVGERAQKRSGNFSAAMKDLSGKHP +VSALMEICNKRRWQPPEFLLVHDSGPDHRKHFLFRVLRNGALTSPIVCFS* +>line48231 NM_001317741 WILDTYPE +MRENVPGEKKPQNGIPLPPQIFNEEQYCGDFDSFFSAKEENIIYSFLGLAPPPDSKEEEGETATEETEEIAMEGAEGEAEEEEETAEGEEPGEDEDS* +>line48231 NM_001317741 c.263_264insAGA p.E90_P91insE protein-altering (position 90-91 has insertion E) +MRENVPGEKKPQNGIPLPPQIFNEEQYCGDFDSFFSAKEENIIYSFLGLAPPPDSKEEEGETATEETEEIAMEGAEGEAEEEEETAEGEEEPGEDEDS* +>line48763 NM_198696 WILDTYPE +MATSTMSVCSSAYSDSWQVDACPESCCEPPCCATSCCAPAPCLTLVCTPVSCVSSPCCQAACEPSPCQSGCTSSCTPSCCQQSSCQPACCTSSPCQQACC +VPVCCKPVCCVPVCCKPVCCKPICCVPVCSGASSSCCQQSSRQPACCTTSCCRPSSSVSLLCRPVCRSTCCVPIPSCCAPASTCQPSCCRPASCVSLLCR +PTCSRLSSACCGLSSGQKSSC* +>line48763 NM_198696 c.493_603del p.V165_P201del protein-altering (position 165-201 changed from VCRSTCCVPIPSCCAPASTCQPSCCRPASCVSLLCRP to ) +MATSTMSVCSSAYSDSWQVDACPESCCEPPCCATSCCAPAPCLTLVCTPVSCVSSPCCQAACEPSPCQSGCTSSCTPSCCQQSSCQPACCTSSPCQQACC +VPVCCKPVCCVPVCCKPVCCKPICCVPVCSGASSSCCQQSSRQPACCTTSCCRPSSSVSLLCRPTCSRLSSACCGLSSGQKSSC* +>line48788 NM_181688 WILDTYPE +MAASTMSICSSACTDSWRVVDCPESCCEPCCCAPAPSLTLVCTPVSCVSSPCCQTACEPSACQSGYTSSCTTPCYQQSSCQPDCCTSSPCQQACCVPVCC +VPVCCVPVCNKPVCFVPTCSESSPSCCQQSSCQPTCCTSSPCQQACCVPVCSKSVCYVPVCSGASTSCCQQSSCQPACCTASCCRPSSSVSLLCHPVCKS +TCCVPVPSCGASASSCQPSCCRTASCVSLLCRPVCSRPACYSLCSGQKSSC* +>line48788 NM_181688 c.279_293del p.C105_C109del protein-altering (position 105-109 changed from CVPVC to ) +MAASTMSICSSACTDSWRVVDCPESCCEPCCCAPAPSLTLVCTPVSCVSSPCCQTACEPSACQSGYTSSCTTPCYQQSSCQPDCCTSSPCQQACCVPVCC +VPVCNKPVCFVPTCSESSPSCCQQSSCQPTCCTSSPCQQACCVPVCSKSVCYVPVCSGASTSCCQQSSCQPACCTASCCRPSSSVSLLCHPVCKSTCCVP +VPSCGASASSCQPSCCRTASCVSLLCRPVCSRPACYSLCSGQKSSC* +>line48797 NM_181684 WILDTYPE +MCHTSCSSGCQPACCAPSPCQPACCVPSSCQASCCVPVGCQSSVCVPVSFKPAVCLPVSCQSSVCVPMSFKSAVCVPVSCQSSVCVPVSCRPIVCAAPSC +QSSLCVPVSCRPVVYAAPSCQSSGCCQPSCTSVLCRPISYSISSCC* +>line48797 NM_181684 c.85_86CG p.S29R protein-altering (position 29 changed from S to R) +MCHTSCSSGCQPACCAPSPCQPACCVPSRCQASCCVPVGCQSSVCVPVSFKPAVCLPVSCQSSVCVPMSFKSAVCVPVSCQSSVCVPVSCRPIVCAAPSC +QSSLCVPVSCRPVVYAAPSCQSSGCCQPSCTSVLCRPISYSISSCC* +>line48798 NM_181684 WILDTYPE +MCHTSCSSGCQPACCAPSPCQPACCVPSSCQASCCVPVGCQSSVCVPVSFKPAVCLPVSCQSSVCVPMSFKSAVCVPVSCQSSVCVPVSCRPIVCAAPSC +QSSLCVPVSCRPVVYAAPSCQSSGCCQPSCTSVLCRPISYSISSCC* +>line48798 NM_181684 c.46_47AT p.A16M protein-altering (position 16 changed from A to M) +MCHTSCSSGCQPACCMPSPCQPACCVPSSCQASCCVPVGCQSSVCVPVSFKPAVCLPVSCQSSVCVPMSFKSAVCVPVSCQSSVCVPVSCRPIVCAAPSC +QSSLCVPVSCRPVVYAAPSCQSSGCCQPSCTSVLCRPISYSISSCC* +>line48902 NM_030582 WILDTYPE +MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADTTTHVTPRNGSTEPATAPGSPEPPSELLEDGQDTPTSAESP +DAPEENIAGVGAEILNVAKGIRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGAHTTEAGTLPAPTPSPPSLGR +PWAPLTGPSVPPPSSERISEEVGLLQLLGDPPPQQVTQTDDPDVGLAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVL +LGVKLSGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQRMPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVI +AELKVRRDPQVSPMHCLDEEGDDSDGASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVEEQTTVASLGAQTLPGSDSVS +TWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSPCLPGPPGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTG +PQGFPGTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDLEALRGPRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAG +LPGVPGREGPPGFPGLPGPPGPPGREGPPGRTGQKGSLGEAGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPPGPPGPGLPAGFDDMEGSGGP +FWSTARSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADGVPGFPGLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGPPGPPGPVVYVSEQDG +SVLSVPGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQKGAKGEPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLK +GEKGEPGDASLGFGMRGMPGPPGPPGPPGPPGTPVYDSNVFAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFDFLQLEAEMKGEKGDRGDAGQ +KGERGEPGGGGFFGSSLPGPPGPPGPRGYPGIPGPKGESIRGQPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGT +MGASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDNEVAALQPPVVQLHDSNPYPRREHPHPTARPWRADDILA +SPPRLPEPQPYPGAPHHSSYVHLRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAGTFRAFLSSRLQDLYSIVRRADRA +AVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKDVLRHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHH +AYIVLCIENSFMTASK* +>line48902 NM_030582 c.3364delG p.G1122Afs*85 protein-altering (position 1122-1516 changed from GPPGPRGYPGIPGPKGESIRGQPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGTMGASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDNEVAALQPPVVQLHDSNPYPRREHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSYVHLRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAGTFRAFLSSRLQDLYSIVRRADRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKDVLRHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHHAYIVLCIENSFMTASK to APQAHVATLGFQVPRERASGASPAHLDLRDPPASATRGARALPAPQAPQGPLHFLALTGRLSAFPALRAPLGPLGPLEPWAPPQG) +MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADTTTHVTPRNGSTEPATAPGSPEPPSELLEDGQDTPTSAESP +DAPEENIAGVGAEILNVAKGIRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGAHTTEAGTLPAPTPSPPSLGR +PWAPLTGPSVPPPSSERISEEVGLLQLLGDPPPQQVTQTDDPDVGLAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVL +LGVKLSGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQRMPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVI +AELKVRRDPQVSPMHCLDEEGDDSDGASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVEEQTTVASLGAQTLPGSDSVS +TWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSPCLPGPPGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTG +PQGFPGTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDLEALRGPRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAG +LPGVPGREGPPGFPGLPGPPGPPGREGPPGRTGQKGSLGEAGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPPGPPGPGLPAGFDDMEGSGGP +FWSTARSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADGVPGFPGLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGPPGPPGPVVYVSEQDG +SVLSVPGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQKGAKGEPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLK +GEKGEPGDASLGFGMRGMPGPPGPPGPPGPPGTPVYDSNVFAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFDFLQLEAEMKGEKGDRGDAGQ +KGERGEPGGGGFFGSSLPGPPAPQAHVATLGFQVPRERASGASPAHLDLRDPPASATRGARALPAPQAPQGPLHFLALTGRLSAFPALRAPLGPLGPLEP +WAPPQG* +>line49373 NM_001835 WILDTYPE +MAQILPVRFQEHFQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVTIIDMSDPMAPIRRPISAESAIMNPASKVIALKAGKTLQIFNIEMKSKMK +AHTMAEEVIFWKWVSVNTVALVTETAVYHWSMEGDSQPMKMFDRHTSLVGCQVIHYRTDEYQKWLLLVGISAQQNRVVGAMQLYSVDRKVSQPIEGHAAA +FAEFKMEGNAKPATLFCFAVRNPTGGKLHIIEVGQPAAGNQPFVKKAVDVFFPPEAQNDFPVAMQIGAKHGVIYLITKYGYLHLYDLESGVCICMNRISA +DTIFVTAPHKPTSGIIGVNKKGQVLSVCVEEDNIVNYATNVLQNPDLGLRLAVRSNLAGAEKLFVRKFNTLFAQGSYAEAAKVAASAPKGILRTRETVQK +FQSIPAQSGQASPLLQYFGILLDQGQLNKLESLELCHLVLQQGRKQLLEKWLKEDKLECSEELGDLVKTTDPMLALSVYLRANVPSKVIQCFAETGQFQK +IVLYAKKVGYTPDWIFLLRGVMKISPEQGLQFSRMLVQDEEPLANISQIVDIFMENSLIQQCTSFLLDALKNNRPAEGLLQTWLLEMNLVHAPQVADAIL +GNKMFTHYDRAHIAQLCEKAGLLQQALEHYTDLYDIKRAVVHTHLLNPEWLVNFFGSLSVEDSVECLHAMLSANIRQNLQLCVQVASKYHEQLGTQALVE +LFESFKSYKGLFYFLGSIVNFSQDPDVHLKYIQAACKTGQIKEVERICRESSCYNPERVKNFLKEAKLTDQLPLIIVCDRFGFVHDLVLYLYRNNLQRYI +EIYVQKVNPSRTPAVIGGLLDVDCSEEVIKHLIMAVRGQFSTDELVAEVEKRNRLKLLLPWLESQIQEGCEEPATHNALAKIYIDSNNSPECFLRENAYY +DSSVVGRYCEKRDPHLACVAYERGQCDLELIKVCNENSLFKSEARYLVCRKDPELWAHVLEETNPSRRQLIDQVVQTALSETRDPEEISVTVKAFMTADL +PNELIELLEKIVLDNSVFSEHRNLQNLLILTAIKADRTRVMEYISRLDNYDALDIASIAVSSALYEEAFTVFHKFDMNASAIQVLIEHIGNLDRAYEFAE +RCNEPAVWSQLAQAQLQKDLVKEAINSYIRGDDPSSYLEVVQSASRSNNWEDLVKFLQMARKKGRESYIETELIFALAKTSRVSELEDFINGPNNAHIQQ +VGDRCYEEGMYEAAKLLYSNVSNFARLASTLVHLGEYQAAVDNSRKASSTRTWKEVCFACMDGQEFRFAQLCGLHIVIHADELEELMCYYQDRGYFEELI +LLLEAALGLERAHMGMFTELAILYSKFKPQKMLEHLELFWSRVNIPKVLRAAEQAHLWAELVFLYDKYEEYDNAVLTMMSHPTEAWKEGQFKDIITKVAN +VELCYRALQFYLDYKPLLINDLLLVLSPRLDHTWTVSFFSKAGQLPLVKPYLRSVQSHNNKSVNEALNHLLTEEEDYQDAMQHAAESRDAELAQKLLQWF +LEEGKRECFAACLFTCYDLLRPDMVLELAWRHNLVDLAMPYFIQVMREYLSKVDKLDALESLRKQEEHVTEPAPLVFDFDGHE* +>line49373 NM_001835 c.3601dupG p.V1201Gfs*18 protein-altering (position 1201-1583 changed from VGDRCYEEGMYEAAKLLYSNVSNFARLASTLVHLGEYQAAVDNSRKASSTRTWKEVCFACMDGQEFRFAQLCGLHIVIHADELEELMCYYQDRGYFEELILLLEAALGLERAHMGMFTELAILYSKFKPQKMLEHLELFWSRVNIPKVLRAAEQAHLWAELVFLYDKYEEYDNAVLTMMSHPTEAWKEGQFKDIITKVANVELCYRALQFYLDYKPLLINDLLLVLSPRLDHTWTVSFFSKAGQLPLVKPYLRSVQSHNNKSVNEALNHLLTEEEDYQDAMQHAAESRDAELAQKLLQWFLEEGKRECFAACLFTCYDLLRPDMVLELAWRHNLVDLAMPYFIQVMREYLSKVDKLDALESLRKQEEHVTEPAPLVFDFDGHE to GWRPLLRGGNVRGCQAAL) +MAQILPVRFQEHFQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVTIIDMSDPMAPIRRPISAESAIMNPASKVIALKAGKTLQIFNIEMKSKMK +AHTMAEEVIFWKWVSVNTVALVTETAVYHWSMEGDSQPMKMFDRHTSLVGCQVIHYRTDEYQKWLLLVGISAQQNRVVGAMQLYSVDRKVSQPIEGHAAA +FAEFKMEGNAKPATLFCFAVRNPTGGKLHIIEVGQPAAGNQPFVKKAVDVFFPPEAQNDFPVAMQIGAKHGVIYLITKYGYLHLYDLESGVCICMNRISA +DTIFVTAPHKPTSGIIGVNKKGQVLSVCVEEDNIVNYATNVLQNPDLGLRLAVRSNLAGAEKLFVRKFNTLFAQGSYAEAAKVAASAPKGILRTRETVQK +FQSIPAQSGQASPLLQYFGILLDQGQLNKLESLELCHLVLQQGRKQLLEKWLKEDKLECSEELGDLVKTTDPMLALSVYLRANVPSKVIQCFAETGQFQK +IVLYAKKVGYTPDWIFLLRGVMKISPEQGLQFSRMLVQDEEPLANISQIVDIFMENSLIQQCTSFLLDALKNNRPAEGLLQTWLLEMNLVHAPQVADAIL +GNKMFTHYDRAHIAQLCEKAGLLQQALEHYTDLYDIKRAVVHTHLLNPEWLVNFFGSLSVEDSVECLHAMLSANIRQNLQLCVQVASKYHEQLGTQALVE +LFESFKSYKGLFYFLGSIVNFSQDPDVHLKYIQAACKTGQIKEVERICRESSCYNPERVKNFLKEAKLTDQLPLIIVCDRFGFVHDLVLYLYRNNLQRYI +EIYVQKVNPSRTPAVIGGLLDVDCSEEVIKHLIMAVRGQFSTDELVAEVEKRNRLKLLLPWLESQIQEGCEEPATHNALAKIYIDSNNSPECFLRENAYY +DSSVVGRYCEKRDPHLACVAYERGQCDLELIKVCNENSLFKSEARYLVCRKDPELWAHVLEETNPSRRQLIDQVVQTALSETRDPEEISVTVKAFMTADL +PNELIELLEKIVLDNSVFSEHRNLQNLLILTAIKADRTRVMEYISRLDNYDALDIASIAVSSALYEEAFTVFHKFDMNASAIQVLIEHIGNLDRAYEFAE +RCNEPAVWSQLAQAQLQKDLVKEAINSYIRGDDPSSYLEVVQSASRSNNWEDLVKFLQMARKKGRESYIETELIFALAKTSRVSELEDFINGPNNAHIQQ +GWRPLLRGGNVRGCQAAL* +>line49498 NM_001293236 WILDTYPE +MDVSGQETDWRSTAFRQKLVSQIEDAMRKAGVAHSKSSKDMESHVFLKAKTRDEYLSLVARLIIHFRDIHNKKSQASVSAQLQLQQVALQQQQQQQQFQQ +QQQAALQQQQQQQQQQQFQAQQSAMQQQFQAVVQQQQQLQQQQQQQQHLIKLHHQNQQQIQQQQQQLQRIAQLQLQQQQQQQQQQQQQQQQALQAQPPIQ +QPPMQQPQPPPSQALPQQLQQMHHTQHHQPPPQPQQPPVAQNQPSQLPPQSQTQPLVSQAQALPGQMLYTQPPLKFVRAPMVVQQPPVQPQVQQQQTAVQ +TAQAAQMVAPGVQVSQSSLPMLSSPSPGQQVQTPQSMPPPPQPSPQPGQPSSQPNSNVSSGPAPSPSSFLPSPSPQPSQSPVTARTPQNFSVPSPGPLNT +PVNPSSVMSPAGSSQAEEQQYLDKLKQLSKYIEPLRRMINKIDKNEDRKKDLSKMKSLLDILTDPSKRCPLKTLQKCEIALEKLKNDMAVPTPPPPPVPP +TKQQYLCQPLLDAVLANIRSPVFNHSLYRTFVPAMTAIHGPPITAPVVCTRKRRLEDDERQSIPSVLQGEVARLDPKFLVNLDPSHCSNNGTVHLICKLD +DKDLPSVPPLELSVPADYPAQSPLWIDRQWQYDANPFLQSVHRCMTSRLLQLPDKHSVTALLNTWAQSVHQACLSAA* +>line49498 NM_001293236 c.295_297del p.Q103del protein-altering (position 103 changed from Q to ) +MDVSGQETDWRSTAFRQKLVSQIEDAMRKAGVAHSKSSKDMESHVFLKAKTRDEYLSLVARLIIHFRDIHNKKSQASVSAQLQLQQVALQQQQQQQQFQQ +QQAALQQQQQQQQQQQFQAQQSAMQQQFQAVVQQQQQLQQQQQQQQHLIKLHHQNQQQIQQQQQQLQRIAQLQLQQQQQQQQQQQQQQQQALQAQPPIQQ +PPMQQPQPPPSQALPQQLQQMHHTQHHQPPPQPQQPPVAQNQPSQLPPQSQTQPLVSQAQALPGQMLYTQPPLKFVRAPMVVQQPPVQPQVQQQQTAVQT +AQAAQMVAPGVQVSQSSLPMLSSPSPGQQVQTPQSMPPPPQPSPQPGQPSSQPNSNVSSGPAPSPSSFLPSPSPQPSQSPVTARTPQNFSVPSPGPLNTP +VNPSSVMSPAGSSQAEEQQYLDKLKQLSKYIEPLRRMINKIDKNEDRKKDLSKMKSLLDILTDPSKRCPLKTLQKCEIALEKLKNDMAVPTPPPPPVPPT +KQQYLCQPLLDAVLANIRSPVFNHSLYRTFVPAMTAIHGPPITAPVVCTRKRRLEDDERQSIPSVLQGEVARLDPKFLVNLDPSHCSNNGTVHLICKLDD +KDLPSVPPLELSVPADYPAQSPLWIDRQWQYDANPFLQSVHRCMTSRLLQLPDKHSVTALLNTWAQSVHQACLSAA* +>line49499 NM_001293236 WILDTYPE +MDVSGQETDWRSTAFRQKLVSQIEDAMRKAGVAHSKSSKDMESHVFLKAKTRDEYLSLVARLIIHFRDIHNKKSQASVSAQLQLQQVALQQQQQQQQFQQ +QQQAALQQQQQQQQQQQFQAQQSAMQQQFQAVVQQQQQLQQQQQQQQHLIKLHHQNQQQIQQQQQQLQRIAQLQLQQQQQQQQQQQQQQQQALQAQPPIQ +QPPMQQPQPPPSQALPQQLQQMHHTQHHQPPPQPQQPPVAQNQPSQLPPQSQTQPLVSQAQALPGQMLYTQPPLKFVRAPMVVQQPPVQPQVQQQQTAVQ +TAQAAQMVAPGVQVSQSSLPMLSSPSPGQQVQTPQSMPPPPQPSPQPGQPSSQPNSNVSSGPAPSPSSFLPSPSPQPSQSPVTARTPQNFSVPSPGPLNT +PVNPSSVMSPAGSSQAEEQQYLDKLKQLSKYIEPLRRMINKIDKNEDRKKDLSKMKSLLDILTDPSKRCPLKTLQKCEIALEKLKNDMAVPTPPPPPVPP +TKQQYLCQPLLDAVLANIRSPVFNHSLYRTFVPAMTAIHGPPITAPVVCTRKRRLEDDERQSIPSVLQGEVARLDPKFLVNLDPSHCSNNGTVHLICKLD +DKDLPSVPPLELSVPADYPAQSPLWIDRQWQYDANPFLQSVHRCMTSRLLQLPDKHSVTALLNTWAQSVHQACLSAA* +>line49499 NM_001293236 c.319_321del p.Q117del protein-altering (position 117 changed from Q to ) +MDVSGQETDWRSTAFRQKLVSQIEDAMRKAGVAHSKSSKDMESHVFLKAKTRDEYLSLVARLIIHFRDIHNKKSQASVSAQLQLQQVALQQQQQQQQFQQ +QQQAALQQQQQQQQQQFQAQQSAMQQQFQAVVQQQQQLQQQQQQQQHLIKLHHQNQQQIQQQQQQLQRIAQLQLQQQQQQQQQQQQQQQQALQAQPPIQQ +PPMQQPQPPPSQALPQQLQQMHHTQHHQPPPQPQQPPVAQNQPSQLPPQSQTQPLVSQAQALPGQMLYTQPPLKFVRAPMVVQQPPVQPQVQQQQTAVQT +AQAAQMVAPGVQVSQSSLPMLSSPSPGQQVQTPQSMPPPPQPSPQPGQPSSQPNSNVSSGPAPSPSSFLPSPSPQPSQSPVTARTPQNFSVPSPGPLNTP +VNPSSVMSPAGSSQAEEQQYLDKLKQLSKYIEPLRRMINKIDKNEDRKKDLSKMKSLLDILTDPSKRCPLKTLQKCEIALEKLKNDMAVPTPPPPPVPPT +KQQYLCQPLLDAVLANIRSPVFNHSLYRTFVPAMTAIHGPPITAPVVCTRKRRLEDDERQSIPSVLQGEVARLDPKFLVNLDPSHCSNNGTVHLICKLDD +KDLPSVPPLELSVPADYPAQSPLWIDRQWQYDANPFLQSVHRCMTSRLLQLPDKHSVTALLNTWAQSVHQACLSAA* +>line49500 NM_001293236 WILDTYPE +MDVSGQETDWRSTAFRQKLVSQIEDAMRKAGVAHSKSSKDMESHVFLKAKTRDEYLSLVARLIIHFRDIHNKKSQASVSAQLQLQQVALQQQQQQQQFQQ +QQQAALQQQQQQQQQQQFQAQQSAMQQQFQAVVQQQQQLQQQQQQQQHLIKLHHQNQQQIQQQQQQLQRIAQLQLQQQQQQQQQQQQQQQQALQAQPPIQ +QPPMQQPQPPPSQALPQQLQQMHHTQHHQPPPQPQQPPVAQNQPSQLPPQSQTQPLVSQAQALPGQMLYTQPPLKFVRAPMVVQQPPVQPQVQQQQTAVQ +TAQAAQMVAPGVQVSQSSLPMLSSPSPGQQVQTPQSMPPPPQPSPQPGQPSSQPNSNVSSGPAPSPSSFLPSPSPQPSQSPVTARTPQNFSVPSPGPLNT +PVNPSSVMSPAGSSQAEEQQYLDKLKQLSKYIEPLRRMINKIDKNEDRKKDLSKMKSLLDILTDPSKRCPLKTLQKCEIALEKLKNDMAVPTPPPPPVPP +TKQQYLCQPLLDAVLANIRSPVFNHSLYRTFVPAMTAIHGPPITAPVVCTRKRRLEDDERQSIPSVLQGEVARLDPKFLVNLDPSHCSNNGTVHLICKLD +DKDLPSVPPLELSVPADYPAQSPLWIDRQWQYDANPFLQSVHRCMTSRLLQLPDKHSVTALLNTWAQSVHQACLSAA* +>line49500 NM_001293236 c.399_401del p.Q138del protein-altering (position 138 changed from Q to ) +MDVSGQETDWRSTAFRQKLVSQIEDAMRKAGVAHSKSSKDMESHVFLKAKTRDEYLSLVARLIIHFRDIHNKKSQASVSAQLQLQQVALQQQQQQQQFQQ +QQQAALQQQQQQQQQQQFQAQQSAMQQQFQAVVQQQQLQQQQQQQQHLIKLHHQNQQQIQQQQQQLQRIAQLQLQQQQQQQQQQQQQQQQALQAQPPIQQ +PPMQQPQPPPSQALPQQLQQMHHTQHHQPPPQPQQPPVAQNQPSQLPPQSQTQPLVSQAQALPGQMLYTQPPLKFVRAPMVVQQPPVQPQVQQQQTAVQT +AQAAQMVAPGVQVSQSSLPMLSSPSPGQQVQTPQSMPPPPQPSPQPGQPSSQPNSNVSSGPAPSPSSFLPSPSPQPSQSPVTARTPQNFSVPSPGPLNTP +VNPSSVMSPAGSSQAEEQQYLDKLKQLSKYIEPLRRMINKIDKNEDRKKDLSKMKSLLDILTDPSKRCPLKTLQKCEIALEKLKNDMAVPTPPPPPVPPT +KQQYLCQPLLDAVLANIRSPVFNHSLYRTFVPAMTAIHGPPITAPVVCTRKRRLEDDERQSIPSVLQGEVARLDPKFLVNLDPSHCSNNGTVHLICKLDD +KDLPSVPPLELSVPADYPAQSPLWIDRQWQYDANPFLQSVHRCMTSRLLQLPDKHSVTALLNTWAQSVHQACLSAA* +>line50716 NM_001349999 WILDTYPE +MAEGAQPHQPPQLGPGAAARGMKRESELELPVPGAGGDGADPGLSKRPRTEEAAADGGGGMQNEPLTPGYHGFPARDSQGNQEPTTTPDAMVQPFTTIPF +PPPPQNGIPTEYGVPHTQDYAGQTGEHNLTLYGSTQAHGEQSSNSPSTQNGSLTQTEGGAQTDGQQSQTQSSENSESKSTPKRLHVSNIPFRFRDPDLRQ +MFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKMVTPYANGWKLSPVVGAVYGPELYAASSFQADVSL +GNDAAVPLSGRGGINTYIPLIIPGFPYPTAATTAAAFRGAHLRGRGRTVYGAVRAVPPTAIPAYPGVVYQDGFYGADLYGGYAAYRYAQPATATAATAAA +AAAAAYSDGYGRVYTADPYHALAPAASYGVGAVASLYRGGYSRFAPY* +>line50716 NM_001349999 c.534delA p.K178Nfs*31 protein-altering (position 178-447 changed from KSTPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKMVTPYANGWKLSPVVGAVYGPELYAASSFQADVSLGNDAAVPLSGRGGINTYIPLIIPGFPYPTAATTAAAFRGAHLRGRGRTVYGAVRAVPPTAIPAYPGVVYQDGFYGADLYGGYAAYRYAQPATATAATAAAAAAAAYSDGYGRVYTADPYHALAPAASYGVGAVASLYRGGYSRFAPY to NLPRNGCMSLIFLSASGTLTSGRCLGSLAKS) +MAEGAQPHQPPQLGPGAAARGMKRESELELPVPGAGGDGADPGLSKRPRTEEAAADGGGGMQNEPLTPGYHGFPARDSQGNQEPTTTPDAMVQPFTTIPF +PPPPQNGIPTEYGVPHTQDYAGQTGEHNLTLYGSTQAHGEQSSNSPSTQNGSLTQTEGGAQTDGQQSQTQSSENSESNLPRNGCMSLIFLSASGTLTSGR +CLGSLAKS* +>line51104 NM_004711 WILDTYPE +MEGGAYGAGKAGGAFDPYTLVRQPHTILRVVSWLFSIVVFGSIVNEGYLNSASEGEEFCIYNRNPNACSYGVAVGVLAFLTCLLYLALDVYFPQISSVKD +RKKAVLSDIGVSAFWAFLWFVGFCYLANQWQVSKPKDNPLNEGTDAARAAIAFSFFSIFTWAGQAVLAFQRYQIGADSALFSQDYMDPSQDSSMPYAPYV +EPTGPDPAGMGGTYQQPANTFDTEPQGYQSQGY* +>line51104 NM_004711 c.605_606insCAA p.P202_T203insN protein-altering (position 202-203 has insertion N) +MEGGAYGAGKAGGAFDPYTLVRQPHTILRVVSWLFSIVVFGSIVNEGYLNSASEGEEFCIYNRNPNACSYGVAVGVLAFLTCLLYLALDVYFPQISSVKD +RKKAVLSDIGVSAFWAFLWFVGFCYLANQWQVSKPKDNPLNEGTDAARAAIAFSFFSIFTWAGQAVLAFQRYQIGADSALFSQDYMDPSQDSSMPYAPYV +EPNTGPDPAGMGGTYQQPANTFDTEPQGYQSQGY* +>line51248 NM_004599 WILDTYPE +MDDSGELGGLETMETLTELGDELTLGDIDEMLQFVSNQVGEFPDLFSEQLCSSFPGSGGSGSSSGSSGSSSSSSNGRGSSSGAVDPSVQRSFTQVTLPSF +SPSAASPQAPTLQVKVSPTSVPTTPRATPILQPRPQPQPQPQTQLQQQTVMITPTFSTTPQTRIIQQPLIYQNAATSFQVLQPQVQSLVTSSQVQPVTIQ +QQVQTVQAQRVLTQTANGTLQTLAPATVQTVAAPQVQQVPVLVQPQIIKTDSLVLTTLKTDGSPVMAAVQNPALTALTTPIQTAALQVPTLVGSSGTILT +TMPVMMGQEKVPIKQVPGGVKQLEPPKEGERRTTHNIIEKRYRSSINDKIIELKDLVMGTDAKMHKSGVLRKAIDYIKYLQQVNHKLRQENMVLKLANQK +NKLLKGIDLGSLVDNEVDLKIEDFNQNVLLMSPPASDSGSQAGFSPYSIDSEPGSPLLDDAKVKDEPDSPPVALGMVDRSRILLCVLTFLCLSFNPLTSL +LQWGGAHDSDQHPHSGSGRSVLSFESGSGGWFDWMMPTLLLWLVNGVIVLSVFVKLLVHGEPVIRPHSRSSVTFWRHRKQADLDLARGDFAAAAGNLQTC +LAVLGRALPTSRLDLACSLSWNVIRYSLQKLRLVRWLLKKVFQCRRATPATEAGFEDEAKTSARDAALAYHRLHQLHITGKLPAGSACSDVHMALCAVNL +AECAEEKIPPSTLVEIHLTAAMGLKTRCGGKLGFLASYFLSRAQSLCGPEHSAVPDSLRWLCHPLGQKFFMERSWSVKSAAKESLYCAQRNPADPIAQVH +QAFCKNLLERAIESLVKPQAKKKAGDQEEESCEFSSALEYLKLLHSFVDSVGVMSPPLSRSSVLKSALGPDIICRWWTSAITVAISWLQGDDAAVRSHFT +KVERIPKALEVTESPLVKAIFHACRAMHASLPGKADGQQSSFCHCERASGHLWSSLNVSGATSDPALNHVVQLLTCDLLLSLRTALWQKQASASQAVGET +YHASGAELAGFQRDLGSLRRLAHSFRPAYRKVFLHEATVRLMAGASPTRTHQLLEHSLRRRTTQSTKHGEVDAWPGQRERATAILLACRHLPLSFLSSPG +QRAVLLAEAARTLEKVGDRRSCNDCQQMIVKLGGGTAIAAS* +>line51248 NM_004599 c.203_205del p.S74del protein-altering (position 74 changed from S to ) +MDDSGELGGLETMETLTELGDELTLGDIDEMLQFVSNQVGEFPDLFSEQLCSSFPGSGGSGSSSGSSGSSSSSNGRGSSSGAVDPSVQRSFTQVTLPSFS +PSAASPQAPTLQVKVSPTSVPTTPRATPILQPRPQPQPQPQTQLQQQTVMITPTFSTTPQTRIIQQPLIYQNAATSFQVLQPQVQSLVTSSQVQPVTIQQ +QVQTVQAQRVLTQTANGTLQTLAPATVQTVAAPQVQQVPVLVQPQIIKTDSLVLTTLKTDGSPVMAAVQNPALTALTTPIQTAALQVPTLVGSSGTILTT +MPVMMGQEKVPIKQVPGGVKQLEPPKEGERRTTHNIIEKRYRSSINDKIIELKDLVMGTDAKMHKSGVLRKAIDYIKYLQQVNHKLRQENMVLKLANQKN +KLLKGIDLGSLVDNEVDLKIEDFNQNVLLMSPPASDSGSQAGFSPYSIDSEPGSPLLDDAKVKDEPDSPPVALGMVDRSRILLCVLTFLCLSFNPLTSLL +QWGGAHDSDQHPHSGSGRSVLSFESGSGGWFDWMMPTLLLWLVNGVIVLSVFVKLLVHGEPVIRPHSRSSVTFWRHRKQADLDLARGDFAAAAGNLQTCL +AVLGRALPTSRLDLACSLSWNVIRYSLQKLRLVRWLLKKVFQCRRATPATEAGFEDEAKTSARDAALAYHRLHQLHITGKLPAGSACSDVHMALCAVNLA +ECAEEKIPPSTLVEIHLTAAMGLKTRCGGKLGFLASYFLSRAQSLCGPEHSAVPDSLRWLCHPLGQKFFMERSWSVKSAAKESLYCAQRNPADPIAQVHQ +AFCKNLLERAIESLVKPQAKKKAGDQEEESCEFSSALEYLKLLHSFVDSVGVMSPPLSRSSVLKSALGPDIICRWWTSAITVAISWLQGDDAAVRSHFTK +VERIPKALEVTESPLVKAIFHACRAMHASLPGKADGQQSSFCHCERASGHLWSSLNVSGATSDPALNHVVQLLTCDLLLSLRTALWQKQASASQAVGETY +HASGAELAGFQRDLGSLRRLAHSFRPAYRKVFLHEATVRLMAGASPTRTHQLLEHSLRRRTTQSTKHGEVDAWPGQRERATAILLACRHLPLSFLSSPGQ +RAVLLAEAARTLEKVGDRRSCNDCQQMIVKLGGGTAIAAS* +>line51293 NM_000106 WILDTYPE +MGLEALVPLAVIVAIFLLLVDLMHRRQRWAARYPPGPLPLPGLGNLLHVDFQNTPYCFDQLRRRFGDVFSLQLAWTPVVVLNGLAAVREALVTHGEDTAD +RPPVPITQILGFGPRSQGVFLARYGPAWREQRRFSVSTLRNLGLGKKSLEQWVTEEAACLCAAFANHSGRPFRPNGLLDKAVSNVIASLTCGRRFEYDDP +RFLRLLDLAQEGLKEESGFLREVLNAVPVLLHIPALAGKVLRFQKAFLTQLDELLTEHRMTWDPAQPPRDLTEAFLAEMEKAKGNPESSFNDENLCIVVA +DLFSAGMVTTSTTLAWGLLLMILHPDVQRRVQQEIDDVIGQVRRPEMGDQAHMPYTTAVIHEVQRFGDIVPLGVTHMTSRDIEVQGFRIPKGTTLITNLS +SVLKDEAVWEKPFRFHPEHFLDAQGHFVKPEAFLPFSAGRRACLGEPLARMELFLFFTSLLQHFSFSVPTGQPRPSHHGVFAFLVTPSPYELCAVPR* +>line51293 NM_000106 c.637_638TC p.L213S protein-altering (position 213 changed from L to S) +MGLEALVPLAVIVAIFLLLVDLMHRRQRWAARYPPGPLPLPGLGNLLHVDFQNTPYCFDQLRRRFGDVFSLQLAWTPVVVLNGLAAVREALVTHGEDTAD +RPPVPITQILGFGPRSQGVFLARYGPAWREQRRFSVSTLRNLGLGKKSLEQWVTEEAACLCAAFANHSGRPFRPNGLLDKAVSNVIASLTCGRRFEYDDP +RFLRLLDLAQEGSKEESGFLREVLNAVPVLLHIPALAGKVLRFQKAFLTQLDELLTEHRMTWDPAQPPRDLTEAFLAEMEKAKGNPESSFNDENLCIVVA +DLFSAGMVTTSTTLAWGLLLMILHPDVQRRVQQEIDDVIGQVRRPEMGDQAHMPYTTAVIHEVQRFGDIVPLGVTHMTSRDIEVQGFRIPKGTTLITNLS +SVLKDEAVWEKPFRFHPEHFLDAQGHFVKPEAFLPFSAGRRACLGEPLARMELFLFFTSLLQHFSFSVPTGQPRPSHHGVFAFLVTPSPYELCAVPR* +>line51294 NM_000106 WILDTYPE +MGLEALVPLAVIVAIFLLLVDLMHRRQRWAARYPPGPLPLPGLGNLLHVDFQNTPYCFDQLRRRFGDVFSLQLAWTPVVVLNGLAAVREALVTHGEDTAD +RPPVPITQILGFGPRSQGVFLARYGPAWREQRRFSVSTLRNLGLGKKSLEQWVTEEAACLCAAFANHSGRPFRPNGLLDKAVSNVIASLTCGRRFEYDDP +RFLRLLDLAQEGLKEESGFLREVLNAVPVLLHIPALAGKVLRFQKAFLTQLDELLTEHRMTWDPAQPPRDLTEAFLAEMEKAKGNPESSFNDENLCIVVA +DLFSAGMVTTSTTLAWGLLLMILHPDVQRRVQQEIDDVIGQVRRPEMGDQAHMPYTTAVIHEVQRFGDIVPLGVTHMTSRDIEVQGFRIPKGTTLITNLS +SVLKDEAVWEKPFRFHPEHFLDAQGHFVKPEAFLPFSAGRRACLGEPLARMELFLFFTSLLQHFSFSVPTGQPRPSHHGVFAFLVTPSPYELCAVPR* +>line51294 NM_000106 c.631dupG p.E211Gfs*42 protein-altering (position 211-497 changed from EGLKEESGFLREVLNAVPVLLHIPALAGKVLRFQKAFLTQLDELLTEHRMTWDPAQPPRDLTEAFLAEMEKAKGNPESSFNDENLCIVVADLFSAGMVTTSTTLAWGLLLMILHPDVQRRVQQEIDDVIGQVRRPEMGDQAHMPYTTAVIHEVQRFGDIVPLGVTHMTSRDIEVQGFRIPKGTTLITNLSSVLKDEAVWEKPFRFHPEHFLDAQGHFVKPEAFLPFSAGRRACLGEPLARMELFLFFTSLLQHFSFSVPTGQPRPSHHGVFAFLVTPSPYELCAVPR to GGTEGGVGLSARGAECCPRPPAYPSAGWQGPTLPKGFPDPAG) +MGLEALVPLAVIVAIFLLLVDLMHRRQRWAARYPPGPLPLPGLGNLLHVDFQNTPYCFDQLRRRFGDVFSLQLAWTPVVVLNGLAAVREALVTHGEDTAD +RPPVPITQILGFGPRSQGVFLARYGPAWREQRRFSVSTLRNLGLGKKSLEQWVTEEAACLCAAFANHSGRPFRPNGLLDKAVSNVIASLTCGRRFEYDDP +RFLRLLDLAQGGTEGGVGLSARGAECCPRPPAYPSAGWQGPTLPKGFPDPAG* +>line51658 NM_016426 WILDTYPE +MEGGGGRDEPSACRAGDVNMDDPKKEDILLLADEKFDFDLSLSSSSANEDDEVFFGPFGHKERCIAASLELNNPVPEQPPLPTSESPFAWSPLAGEKFVE +VYKEAHLLALHIESSSRNQAAQAAKPEDPRSQGVERFIQESKLKINLFEKEKEMKKSPTSLKRETYYLSDSPLLGPPVGEPRLLASSPALPSSGAQARLT +RAPGPPHSAHALPRESCTAHAASQAATQRKPGTKLLLPRAASVRGRSIPGAAEKPKKEIPASPSRTKIPAEKESHRDVLPDKPAPGAVNVPAAGSHLGQG +KRAIPVPNKLGLKKTLLKAPGSTSNLARKSSSGPVWSGASSACTSPAVGKAKSSEFASIPANSSRPLSNISKSGRMGPAMLRPALPAGPVGASSWQAKRV +DVSELAAEQLTAPPSASPTQPQTPEGGGQWLNSSCAWSESSQLNKTRSIRRRDSCLNSKTKVMPTPTNQFKIPKFSIGDSPDSSTPKLSRAQRPQSCTSV +GRVTVHSTPVRRSSGPAPQSLLSAWRVSALPTPASRRCSGLPPMTPKTMPRAVGSPLCVPARRRSSEPRKNSAMRTEPTRESNRKTDSRLVDVSPDRGSP +PSRVPQALNFSPEESDSTFSKSTATEVAREEAKPGGDAAPSEALLVDIKLEPLAVTPDAASQPLIDLPLIDFCDTPEAHVAVGSESRPLIDLMTNTPDMN +KNVAKPSPVVGQLIDLSSPLIQLSPEADKENVDSPLLKF* +>line51658 NM_016426 c.827_828AA p.R276Q protein-altering (position 276 changed from R to Q) +MEGGGGRDEPSACRAGDVNMDDPKKEDILLLADEKFDFDLSLSSSSANEDDEVFFGPFGHKERCIAASLELNNPVPEQPPLPTSESPFAWSPLAGEKFVE +VYKEAHLLALHIESSSRNQAAQAAKPEDPRSQGVERFIQESKLKINLFEKEKEMKKSPTSLKRETYYLSDSPLLGPPVGEPRLLASSPALPSSGAQARLT +RAPGPPHSAHALPRESCTAHAASQAATQRKPGTKLLLPRAASVRGRSIPGAAEKPKKEIPASPSRTKIPAEKESHQDVLPDKPAPGAVNVPAAGSHLGQG +KRAIPVPNKLGLKKTLLKAPGSTSNLARKSSSGPVWSGASSACTSPAVGKAKSSEFASIPANSSRPLSNISKSGRMGPAMLRPALPAGPVGASSWQAKRV +DVSELAAEQLTAPPSASPTQPQTPEGGGQWLNSSCAWSESSQLNKTRSIRRRDSCLNSKTKVMPTPTNQFKIPKFSIGDSPDSSTPKLSRAQRPQSCTSV +GRVTVHSTPVRRSSGPAPQSLLSAWRVSALPTPASRRCSGLPPMTPKTMPRAVGSPLCVPARRRSSEPRKNSAMRTEPTRESNRKTDSRLVDVSPDRGSP +PSRVPQALNFSPEESDSTFSKSTATEVAREEAKPGGDAAPSEALLVDIKLEPLAVTPDAASQPLIDLPLIDFCDTPEAHVAVGSESRPLIDLMTNTPDMN +KNVAKPSPVVGQLIDLSSPLIQLSPEADKENVDSPLLKF* +>line52978 NM_001099921 WILDTYPE +MSQDQESPRCTHDQHLQTFSETQSLEVAQVSKALEKTLLSSSHPLVPGKLKEAPAAKAESPLEVPQSFCSSSIAVTTTSSSESDEASSNQEEEDSPSSSE +DTSDPRNVPADALDQKVAFLVNFMLHKCQMKKPITKADMLKIIIKDDESHFSEILLRASEHLEMIFGLDVVEVDPTTHCYGLFIKLGLTYDGMLSGEKGV +PKTGLLIIVLGVIFMKGNRATEEEVWEVLNLTGVYSGKKHFIFGEPRMLITKDFVKEKYLEYQQVANSDPARYEFLWGPRAKAETSKMKVLEFVAKVHGS +YPHSFPSQYAEALKEEEERARARI* +>line52978 NM_001099921 c.742_743GA p.M248E protein-altering (position 248 changed from M to E) +MSQDQESPRCTHDQHLQTFSETQSLEVAQVSKALEKTLLSSSHPLVPGKLKEAPAAKAESPLEVPQSFCSSSIAVTTTSSSESDEASSNQEEEDSPSSSE +DTSDPRNVPADALDQKVAFLVNFMLHKCQMKKPITKADMLKIIIKDDESHFSEILLRASEHLEMIFGLDVVEVDPTTHCYGLFIKLGLTYDGMLSGEKGV +PKTGLLIIVLGVIFMKGNRATEEEVWEVLNLTGVYSGKKHFIFGEPRELITKDFVKEKYLEYQQVANSDPARYEFLWGPRAKAETSKMKVLEFVAKVHGS +YPHSFPSQYAEALKEEEERARARI* +>line53334 NM_001167989 WILDTYPE +MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAE +EKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKVSRKDEEL +DPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD* +>line53334 NM_001167989 c.451_452del p.E154Afs*11 protein-altering (position 154-264 changed from ERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD to ARQGTGSGPRV) +MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAE +EKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERARQGTGSGPRV* +>line53492 NM_001111125 WILDTYPE +MEAGSGPPGGPGSESPNRAVEYLLELNNIIESQQQLLETQRRRIEELEGQLDQLTQENRDLREESQLHRGELHRDPHGARDSPGRESQYQNLRETQFHHR +ELRESQFHQAARDVGYPNREGAYQNREAVYRDKERDASYPLQDTTGYTARERDVAQCHLHHENPALGRERGGREAGPAHPGREKEAGYSAAVGVGPRPPR +ERGQLSRGASRSSSPGAGGGHSTSTSTSPATTLQRKSDGENSRTVSVEGDAPGSDLSTAVDSPGSQPPYRLSQLPPSSSHMGGPPAGVGLPWAQRARLQP +ASVALRKQEEEEIKRSKALSDSYELSTDLQDKKVEMLERKYGGSFLSRRAARTIQTAFRQYRMNKNFERLRSSASESRMSRRIILSNMRMQFSFEEYEKA +QNPAYFEGKPASLDEGAMAGARSHRLERGLPYGGSCGGGIDGGGSSVTTSGEFSNDITELEDSFSKQVKSLAESIDEALNCHPSGPMSEEPGSAQLEKRE +SKEQQEDSSATSFSDLPLYLDDTVPQQSPERLPSTEPPPQGRPEFWAPAPLPPVPPPVPSGTREDGSREEGTRRGPGCLECRDFRLRAAHLPLLTIEPPS +DSSVDLSDRSDRGSVHRQLVYEADGCSPHGTLKHKGPPGRAPIPHRHYPAPEGPAPAPPGPLPPAPNSGTGPSGVAGGRRLGKCEAAGENSDGGDNESLE +SSSNSNETINCSSGSSSRDSLREPPATGLCKQTYQRETRHSWDSPAFNNDVVQRRHYRIGLNLFNKKPEKGIQYLIERGFLSDTPVGVAHFILERKGLSR +QMIGEFLGNRQKQFNRDVLDCVVDEMDFSSMDLDDALRKFQSHIRVQGEAQKVERLIEAFSQRYCVCNPALVRQFRNPDTIFILAFAIILLNTDMYSPSV +KAERKMKLDDFIKNLRGVDNGEDIPRDLLVGIYQRIQGRELRTNDDHVSQVQAVERMIVGKKPVLSLPHRRLVCCCQLYEVPDPNRPQRLGLHQREVFLF +NDLLVVTKIFQKKKILVTYSFRQSFPLVEMHMQLFQNSYYQFGIKLLSAVPGGERKVLIIFNAPSLQDRLRFTSDLRESIAEVQEMEKYRVESELEKQKG +MMRPNASQPGGAKDSVNGTMARSSLEDTYGAGDGLKRGALSSSLRDLSDAGKRGRRNSVGSLDSTIEGSVISSPRPHQRMPPPPPPPPPEEYKSQRPVSN +SSSFLGSLFGSKRGKGPFQMPPPPTGQASASSSSASSTHHHHHHHHHGHSHGGLGVLPDGQSKLQALHAQYCQGPGPAPPPYLPPQQPSLPPPPQQPPPL +PQLGSIPPPPASAPPVGPHRHFHAHGPVPGPQHYTLGRPGRAPRRGAGGHPQFAPHGRHPLHQPTSPLPLYSPAPQHPPAHKQGPKHFIFSHHPQMMPAA +GAAGGPGSRPPGGSYSHPHHPQSPLSPHSPIPPHPSYPPLPPPSPHTPHSPLPPTSPHGPLHASGPPGTANPPSANPKAKPSRISTVV* +>line53492 NM_001111125 c.3735_3737del p.H1247del protein-altering (position 1247 changed from H to ) +MEAGSGPPGGPGSESPNRAVEYLLELNNIIESQQQLLETQRRRIEELEGQLDQLTQENRDLREESQLHRGELHRDPHGARDSPGRESQYQNLRETQFHHR +ELRESQFHQAARDVGYPNREGAYQNREAVYRDKERDASYPLQDTTGYTARERDVAQCHLHHENPALGRERGGREAGPAHPGREKEAGYSAAVGVGPRPPR +ERGQLSRGASRSSSPGAGGGHSTSTSTSPATTLQRKSDGENSRTVSVEGDAPGSDLSTAVDSPGSQPPYRLSQLPPSSSHMGGPPAGVGLPWAQRARLQP +ASVALRKQEEEEIKRSKALSDSYELSTDLQDKKVEMLERKYGGSFLSRRAARTIQTAFRQYRMNKNFERLRSSASESRMSRRIILSNMRMQFSFEEYEKA +QNPAYFEGKPASLDEGAMAGARSHRLERGLPYGGSCGGGIDGGGSSVTTSGEFSNDITELEDSFSKQVKSLAESIDEALNCHPSGPMSEEPGSAQLEKRE +SKEQQEDSSATSFSDLPLYLDDTVPQQSPERLPSTEPPPQGRPEFWAPAPLPPVPPPVPSGTREDGSREEGTRRGPGCLECRDFRLRAAHLPLLTIEPPS +DSSVDLSDRSDRGSVHRQLVYEADGCSPHGTLKHKGPPGRAPIPHRHYPAPEGPAPAPPGPLPPAPNSGTGPSGVAGGRRLGKCEAAGENSDGGDNESLE +SSSNSNETINCSSGSSSRDSLREPPATGLCKQTYQRETRHSWDSPAFNNDVVQRRHYRIGLNLFNKKPEKGIQYLIERGFLSDTPVGVAHFILERKGLSR +QMIGEFLGNRQKQFNRDVLDCVVDEMDFSSMDLDDALRKFQSHIRVQGEAQKVERLIEAFSQRYCVCNPALVRQFRNPDTIFILAFAIILLNTDMYSPSV +KAERKMKLDDFIKNLRGVDNGEDIPRDLLVGIYQRIQGRELRTNDDHVSQVQAVERMIVGKKPVLSLPHRRLVCCCQLYEVPDPNRPQRLGLHQREVFLF +NDLLVVTKIFQKKKILVTYSFRQSFPLVEMHMQLFQNSYYQFGIKLLSAVPGGERKVLIIFNAPSLQDRLRFTSDLRESIAEVQEMEKYRVESELEKQKG +MMRPNASQPGGAKDSVNGTMARSSLEDTYGAGDGLKRGALSSSLRDLSDAGKRGRRNSVGSLDSTIEGSVISSPRPHQRMPPPPPPPPPEEYKSQRPVSN +SSSFLGSLFGSKRGKGPFQMPPPPTGQASASSSSASSTHHHHHHHHGHSHGGLGVLPDGQSKLQALHAQYCQGPGPAPPPYLPPQQPSLPPPPQQPPPLP +QLGSIPPPPASAPPVGPHRHFHAHGPVPGPQHYTLGRPGRAPRRGAGGHPQFAPHGRHPLHQPTSPLPLYSPAPQHPPAHKQGPKHFIFSHHPQMMPAAG +AAGGPGSRPPGGSYSHPHHPQSPLSPHSPIPPHPSYPPLPPPSPHTPHSPLPPTSPHGPLHASGPPGTANPPSANPKAKPSRISTVV* +>line54990 NM_001291277 WILDTYPE +MALRPEDPSSGFRHSNVVAFINEKMARHTKGPEFYLENISLSWEKVEDKLRAILEDSEVPSEVKEACTWGSLALGVRFAHRQAQLQRHRVRWLHGFAKLH +KSAAQALASDLKKLREQQETERKEAASRLRMAQTSLVEVQKERDKELVSPHEWEQGAGWPGLATAGGVCTEGAAEEEEEAAVAAAGAAGGKGAEEEQRDV +EVVAAPVEAMAPPVEAGAAPMETQFPHVEARAASMETTEKLERILLQLLGDADQEKYTYWGQKEGDLRSVETATSYFSGTTNPWSRASSEPLPVQLPASY +SYSYSSPFSSFSDIPTISPPQATVTAPVPPQLPSDWEAFDTSLWSDGGPHRIDHQEHPRDRRYSEPHQQRPPVYRRPGDWDCPWCNAVNFSRRDTCFDCG +KGIWLQKPH* +>line54990 NM_001291277 c.599delT p.V200Gfs*152 protein-altering (position 200-409 changed from VEVVAAPVEAMAPPVEAGAAPMETQFPHVEARAASMETTEKLERILLQLLGDADQEKYTYWGQKEGDLRSVETATSYFSGTTNPWSRASSEPLPVQLPASYSYSYSSPFSSFSDIPTISPPQATVTAPVPPQLPSDWEAFDTSLWSDGGPHRIDHQEHPRDRRYSEPHQQRPPVYRRPGDWDCPWCNAVNFSRRDTCFDCGKGIWLQKPH to GRLWLPLWRPWLPLWRLGLPPWRPSSPTWRPGLPPWRPQRSWRESSCSSLEMLIRKSTPIGGRRREISGRSKQPHLISLEPRTPGPEPHQNLFLSSSLPHTHTHTQALFPPSQTYPLYPLHKQQSQHQFRLSCLPTGRPLILACGLMGGPTE) +MALRPEDPSSGFRHSNVVAFINEKMARHTKGPEFYLENISLSWEKVEDKLRAILEDSEVPSEVKEACTWGSLALGVRFAHRQAQLQRHRVRWLHGFAKLH +KSAAQALASDLKKLREQQETERKEAASRLRMAQTSLVEVQKERDKELVSPHEWEQGAGWPGLATAGGVCTEGAAEEEEEAAVAAAGAAGGKGAEEEQRDG +RLWLPLWRPWLPLWRLGLPPWRPSSPTWRPGLPPWRPQRSWRESSCSSLEMLIRKSTPIGGRRREISGRSKQPHLISLEPRTPGPEPHQNLFLSSSLPHT +HTHTQALFPPSQTYPLYPLHKQQSQHQFRLSCLPTGRPLILACGLMGGPTE* +>line55183 NM_001113490 WILDTYPE +MRNSEEQPSGGTTVLQRLLQEQLRYGNPSENRSLLAIHQQATGNGPPFPSGSGNPGPQSDVLSPQDHHQQLVAHAARQEPQGQEIQSENLIMEKQLSPRM +QNNEELPTYEEAKVQSQYFRGQQHASVGAAFYVTGVTNQKMRTEGRPSVQRLNPGKMHQDEGLRDLKQGHVRSLSERLMQMSLATSGVKAHPPVTSAPLS +PPQPNDLYKNPTSSSEFYKAQGPLPNQHSLKGMEHRGPPPEYPFKGMPPQSVVCKPQEPGHFYSEHRLNQPGRTEGQLMRYQHPPEYGAARPAQDISLPL +SARNSQPHSPTSSLTSGGSLPLLQSPPSTRLSPARHPLVPNQGDHSAHLPRPQQHFLPNQAHQGDHYRLSQPGLSQQQQQQQQQHHHHHHHQQQQQQQPQ +QQPGEAYSAMPRAQPSSASYQPVPADPFAIVSRAQQMVEILSDENRNLRQELEGCYEKVARLQKVETEIQRVSEAYENLVKSSSKREALEKAMRNKLEGE +IRRMHDFNRDLRERLETANKQLAEKEYEGSEDTRKTISQLFAKNKESQREKEKLEAELATARSTNEDQRRHIEIRDQALSNAQAKVVKLEEELKKKQVYV +DKVEKMQQALVQLQAACEKREQLEHRLRTRLERELESLRIQQRQGNCQPTNVSEYNAAALMELLREKEERILALEADMTKWEQKYLEENVMRHFALDAAA +TVAAQRDTTVISHSPNTSYDTALEARIQKEEEEILMANKRCLDMEGRIKTLHAQIIEKDAMIKVLQQRSRKEPSKTEQLSCMRPAKSLMSISNAGSGLLS +HSSTLTGSPIMEEKRDDKSWKGSLGILLGGDYRAEYVPSTPSPVPPSTPLLSAHSKTGSRDCSTQTERGTESNKTAAVAPISVPAPVAAAATAAAITATA +ATITTTMVAAAPVAVAAAAAPAAAAAPSPATAAATAAAVSPAAAGQIPAAASVASAAAVAPSAAAAAAVQVAPAAPAPVPAPALVPVPAPAAAQASAPAQ +TQAPTSAPAVAPTPAPTPTPAVAQAEVPASPATGPGPHRLSIPSLTCNPDKTDGPVFHSNTLERKTPIQILGQEPDAEMVEYLI* +>line55183 NM_001113490 c.2903_2905del p.A968del protein-altering (position 968 changed from A to ) +MRNSEEQPSGGTTVLQRLLQEQLRYGNPSENRSLLAIHQQATGNGPPFPSGSGNPGPQSDVLSPQDHHQQLVAHAARQEPQGQEIQSENLIMEKQLSPRM +QNNEELPTYEEAKVQSQYFRGQQHASVGAAFYVTGVTNQKMRTEGRPSVQRLNPGKMHQDEGLRDLKQGHVRSLSERLMQMSLATSGVKAHPPVTSAPLS +PPQPNDLYKNPTSSSEFYKAQGPLPNQHSLKGMEHRGPPPEYPFKGMPPQSVVCKPQEPGHFYSEHRLNQPGRTEGQLMRYQHPPEYGAARPAQDISLPL +SARNSQPHSPTSSLTSGGSLPLLQSPPSTRLSPARHPLVPNQGDHSAHLPRPQQHFLPNQAHQGDHYRLSQPGLSQQQQQQQQQHHHHHHHQQQQQQQPQ +QQPGEAYSAMPRAQPSSASYQPVPADPFAIVSRAQQMVEILSDENRNLRQELEGCYEKVARLQKVETEIQRVSEAYENLVKSSSKREALEKAMRNKLEGE +IRRMHDFNRDLRERLETANKQLAEKEYEGSEDTRKTISQLFAKNKESQREKEKLEAELATARSTNEDQRRHIEIRDQALSNAQAKVVKLEEELKKKQVYV +DKVEKMQQALVQLQAACEKREQLEHRLRTRLERELESLRIQQRQGNCQPTNVSEYNAAALMELLREKEERILALEADMTKWEQKYLEENVMRHFALDAAA +TVAAQRDTTVISHSPNTSYDTALEARIQKEEEEILMANKRCLDMEGRIKTLHAQIIEKDAMIKVLQQRSRKEPSKTEQLSCMRPAKSLMSISNAGSGLLS +HSSTLTGSPIMEEKRDDKSWKGSLGILLGGDYRAEYVPSTPSPVPPSTPLLSAHSKTGSRDCSTQTERGTESNKTAAVAPISVPAPVAAAATAAAITATA +ATITTTMVAAAPVAVAAAAAPAAAAAPSPATAAATAAAVSPAAAGQIPAAASVASAAAVAPSAAAAAVQVAPAAPAPVPAPALVPVPAPAAAQASAPAQT +QAPTSAPAVAPTPAPTPTPAVAQAEVPASPATGPGPHRLSIPSLTCNPDKTDGPVFHSNTLERKTPIQILGQEPDAEMVEYLI* +>line55440 NM_001184742 WILDTYPE +MESRKLISATDIQYSGSLLNSLNEQRGHGLFCDVTVIVEDRKFRAHKNILSASSTYFHQLFSVAGQVVELSFIRAEIFAEILNYIYSSKIVRVRSDLLDE +LIKSGQLLGVKFIAELGVPLSQVKSISGTAQDGNTEPLPPDSGDKNLVIQKSKDEAQDNGATIMPIITESFSLSAEDYEMKKIIVTDSDDDDDDVIFCSE +ILPTKETLPSNNTVAQVQSNPGPVAISDVAPSASNNSPPLTNITPTQKLPTPVNQATLSQTQGSEKLLVSSAPTHLTPNIILLNQTPLSTPPNVSSSLPN +HMPSSINLLVQNQQTPNSAILTGNKANEEEEEEIIDDDDDTISSSPDSAVSNTSLVPQADTSQNTSFDGSLIQKMQIPTLLQEPLSNSLKISDIITRNTN +DPGVGSKHLMEGQKIITLDTATEIEGLSTGCKVYANIGEDTYDIVIPVKDDPDEGEARLENEIPKTSGSEMANKRMKVKHDDHYELIVDGRVYYICIVCK +RSYVCLTSLRRHFNIHSWEKKYPCRYCEKVFPLAEYRTKHEIHHTGERRYQCLACGKSFINYQFMSSHIKSVHSQDPSGDSKLYRLHPCRSLQIRQYAYL +SDRSSTIPAMKDDGIGYKVDTGKEPPVGTTTSTQNKPMTWEDIFIQQENDSIFKQNVTDGSTEFEFIIPESY* +>line55440 NM_001184742 c.563_564insTGA p.D194_V195insD protein-altering (position 194-195 has insertion D) +MESRKLISATDIQYSGSLLNSLNEQRGHGLFCDVTVIVEDRKFRAHKNILSASSTYFHQLFSVAGQVVELSFIRAEIFAEILNYIYSSKIVRVRSDLLDE +LIKSGQLLGVKFIAELGVPLSQVKSISGTAQDGNTEPLPPDSGDKNLVIQKSKDEAQDNGATIMPIITESFSLSAEDYEMKKIIVTDSDDDDDDDVIFCS +EILPTKETLPSNNTVAQVQSNPGPVAISDVAPSASNNSPPLTNITPTQKLPTPVNQATLSQTQGSEKLLVSSAPTHLTPNIILLNQTPLSTPPNVSSSLP +NHMPSSINLLVQNQQTPNSAILTGNKANEEEEEEIIDDDDDTISSSPDSAVSNTSLVPQADTSQNTSFDGSLIQKMQIPTLLQEPLSNSLKISDIITRNT +NDPGVGSKHLMEGQKIITLDTATEIEGLSTGCKVYANIGEDTYDIVIPVKDDPDEGEARLENEIPKTSGSEMANKRMKVKHDDHYELIVDGRVYYICIVC +KRSYVCLTSLRRHFNIHSWEKKYPCRYCEKVFPLAEYRTKHEIHHTGERRYQCLACGKSFINYQFMSSHIKSVHSQDPSGDSKLYRLHPCRSLQIRQYAY +LSDRSSTIPAMKDDGIGYKVDTGKEPPVGTTTSTQNKPMTWEDIFIQQENDSIFKQNVTDGSTEFEFIIPESY* +>line55511 NM_001256743 WILDTYPE +MARQKKMGQSVLRAVFFLVLGLLGHSHGGFPNTISIGGLFMRNTVQEHSAFRFAVQLYNTNQNTTEKPFHLNYHVDHLDSSNSFSVTNACPAERDYLPWP +GSIRENNWTALPCCKDHGLLHLKCSPGGPAKTGPIVSGALQVNC +>line55511 NM_001256743 c.382dupG p.P129Afs*17 protein-altering (position 129-144 changed from PAKTGPIVSGALQVNC to ARQNWAYCIWGVTGEL*) +MARQKKMGQSVLRAVFFLVLGLLGHSHGGFPNTISIGGLFMRNTVQEHSAFRFAVQLYNTNQNTTEKPFHLNYHVDHLDSSNSFSVTNACPAERDYLPWP +GSIRENNWTALPCCKDHGLLHLKCSPGGARQNWAYCIWGVTGEL* +>line55900 NM_153834 WILDTYPE +MKEHIIYQKLYGLILMSSFIFLSDTLSLKGKKLDFFGRGDTYVSLIDTIPELSRFTACIDLVFMDDNSRYWMAFSYITNNALLGREDIDLGLAGDHQQLI +LYRLGKTFSIRHHLASFQWHTICLIWDGVKGKLELFLNKERILEVTDQPHNLTPHGTLFLGHFLKNESSEVKSMMRSFPGSLYYFQLWDHILENEEFMKC +LDGNIVSWEEDVWLVNKIIPTVDRTLRCFVPENMTIQEKSTTVSQQIDMTTPSQITGVKPQNTAHSSTLLSQSIPIFATDYTTISYSNTTSPPLETMTAQ +KILKTLVDETATFAVDVLSTSSAISLPTQSISIDNTTNSMKKTKSPSSESTKTTKMVEAMATEIFQPPTPSNFLSTSRFTKNSVVSTTSAIKSQSAVTKT +TSLFSTIESTSMSTTPCLKQKSTNTGALPISTAGQEFIESTAAGTVPWFTVEKTSPASTHVGTASSFPPEPVLISTAAPVDSVFPRNQTAFPLATTDMKI +AFTVHSLTLPTRLIETTPAPRTAETELTSTNFQDVSLPRVEDAMSTSMSKETSSKTFSFLTSFSFTGTESVQTVIDAEATRTALTPEITLASTVAETMLS +STITGRVYTQNTPTADGHLLTLMSTRSASTSKAPESGPTSTTDEAAHLFSSNETIWTSRPDQALLASMNTTTILTFVPNENFTSAFHENTTYTEYLSATT +NITPLKASPEGKGTTANDATTARYTTAVSKLTSPWFANFSIVSGTTSITNMPEFKLTTLLLKTIPMSTKPANELPLTPRETVVPSVDIISTLACIQPNFS +TEESASETTQTEINGAIVFGGTTTPVPKSATTQRLNATVTRKEATSHYLMRKSTIAAVAEVSPFSTMLEVTDESAQRVTASVTVSSFPDIEKLSTPLDNK +TATTEVRESWLLTKLVKTTPRSSYNEMTEMFNFNHTYVAHWTSETSEGISAGSPTSGSTHIFGEPLGASTTRISETSFSTTPTDRTATSLSDGILPPQPT +AAHSSATPVPVTHMFSLPVNGSSVVAEETEVTMSEPSTLARAFSTSVLSDVSNLSSTTMTTALVPPLDQTASTTIVIVPTHGDLIRTTSEATVISVRKTS +MAVPSLTETPFHSLRLSTPVTAKAETTLFSTSVDTVTPSTHTLVCSKPPPDNIPPASSTHVISTTSTPEATQPISQVEETSTYALSFPYTFSGGGVVASL +ATGTTETSVVDETTPSHISANKLTTSVNSHISSSATYRVHTPVSIQLVTSTSVLSSDKDQMTISLGKTPRTMEVTEMSPSKNSFISYSRGTPSLEMTDTG +FPETTKISSHQTHSPSEIPLGTPSDGNLASSPTSGSTQITPTLTSSNTVGVHIPEMSTSLGKTALPSQALTITTFLCPEKESTSALPAYTPRTVEMIVNS +TYVTHSVSYGQDTSFVDTTTSSSTRISNPMDINTTFSHLHSLRTQPEVTSVASFISESTQTFPESLSLSTAGLYNDGFTVLSDRITTAFSVPNVPTMLPR +ESSMATSTPIYQMSSLPVNVTAFTSKKVSDTPPIVITKSSKTMHPGCLKSPCTATSGPMSEMSSIPVNNSAFTPATVSSDTSTRVGLFSTLLSSVTPRTT +MTMQTSTLDVTPVIYAGATSKNKMVSSAFTTEMIEAPSRITPTTFLSPTEPTLPFVKTVPTTIMAGIVTPFVGTTAFSPLSSKSTGAISSIPKTTFSPFL +SATQQSSQADEATTLGILSGITNRSLSTVNSGTGVALTDTYSRITVPENMLSPTHADSLHTSFNIQVSPSLTSFKSASGPTKNVKTTTNCFSSNTRKMTS +LLEKTSLTNYATSLNTPVSYPPWTPSSATLPSLTSFVYSPHSTEAEISTPKTSPPPTSQMVEFPVLGTRMTSSNTQPLLMTSWNIPTAEGSQFPISTTIN +VPTSNEMETETLHLVPGPLSTFTASQTGLVSKDVMAMSSIPMSGILPNHGLSENPSLSTSLRAITSTLADVKHTFEKMTTSVTPGTTLPSILSGATSGSV +ISKSPILTWLLSSLPSGSPPATVSNAPHVMTSSTVEVSKSTFLTSDMISAHPFTNLTTLPSATMSTILTRTIPTPTLGGITTGFPTSLPMSINVTDDIVY +ISTHPEASSRTTITANPRTVSHPSSFSRKTMSPSTTDHTLSVGAMPLPSSTITSSWNRIPTASSPSTLIIPKPTLDSLLNIMTTTSTVPGASFPLISTGV +TYPFTATVSSPISSFFETTWLDSTPSFLSTEASTSPTATKSTVSFYNVEMSFSVFVEEPRIPITSVINEFTENSLNSIFQNSEFSLATLETQIKSRDISE +EEMVMDRAILEQREGQEMATISYVPYSCVCQVIIKASSSLASSELMRKIKSKIHGNFTHGNFTQDQLTLLVNCEHVAVKKLEPGNCKADETASKYKGTYK +WLLTNPTETAQTRCIKNEDGNATRFCSISINTGKSQWEKPKFKQCKLLQELPDKIVDLANITISDENAEDVAEHILNLINESPALGKEETKIIVSKISDI +SQCDEISMNLTHVMLQIINVVLEKQNNSASDLHEISNEILRIIERTGHKMEFSGQIANLTVAGLALAVLRGDHTFDGMAFSIHSYEEGTDPEIFLGNVPV +GGILASIYLPKSLTERIPLSNLQTILFNFFGQTSLFKTKNVTKALTTYVVSASISDDMFIQNLADPVVITLQHIGGNQNYGQVHCAFWDFENNNGLGGWN +SSGCKVKETNVNYTICQCDHLTHFGVLMDLSRSTVDSVNEQILALITYTGCGISSIFLGVAVVTYIAFHKLRKDYPAKILINLCTALLMLNLVFLINSWL +SSFQKVGVCITAAVALHYFLLVSFTWMGLEAVHMYLALVKVFNIYIPNYILKFCLVGWGIPAIMVAITVSVKKDLYGTLSPTTPFCWIKDDSIFYISVVA +YFCLIFLMNLSMFCTVLVQLNSVKSQIQKTRRKMILHDLKGTMSLTFLLGLTWGFAFFAWGPMRNFFLYLFAIFNTLQGFFIFVFHCVMKESVREQWQIH +LCCGWLRLDNSSDGSSRCQIKVGYKQEGLKKIFEHKLLTPSLKSTATSSTFKSLGSAQGTPSEISFPNDDFDKDPYCSSP* +>line55900 NM_153834 c.7966_7968del p.D2657del protein-altering (position 2657 changed from D to ) +MKEHIIYQKLYGLILMSSFIFLSDTLSLKGKKLDFFGRGDTYVSLIDTIPELSRFTACIDLVFMDDNSRYWMAFSYITNNALLGREDIDLGLAGDHQQLI +LYRLGKTFSIRHHLASFQWHTICLIWDGVKGKLELFLNKERILEVTDQPHNLTPHGTLFLGHFLKNESSEVKSMMRSFPGSLYYFQLWDHILENEEFMKC +LDGNIVSWEEDVWLVNKIIPTVDRTLRCFVPENMTIQEKSTTVSQQIDMTTPSQITGVKPQNTAHSSTLLSQSIPIFATDYTTISYSNTTSPPLETMTAQ +KILKTLVDETATFAVDVLSTSSAISLPTQSISIDNTTNSMKKTKSPSSESTKTTKMVEAMATEIFQPPTPSNFLSTSRFTKNSVVSTTSAIKSQSAVTKT +TSLFSTIESTSMSTTPCLKQKSTNTGALPISTAGQEFIESTAAGTVPWFTVEKTSPASTHVGTASSFPPEPVLISTAAPVDSVFPRNQTAFPLATTDMKI +AFTVHSLTLPTRLIETTPAPRTAETELTSTNFQDVSLPRVEDAMSTSMSKETSSKTFSFLTSFSFTGTESVQTVIDAEATRTALTPEITLASTVAETMLS +STITGRVYTQNTPTADGHLLTLMSTRSASTSKAPESGPTSTTDEAAHLFSSNETIWTSRPDQALLASMNTTTILTFVPNENFTSAFHENTTYTEYLSATT +NITPLKASPEGKGTTANDATTARYTTAVSKLTSPWFANFSIVSGTTSITNMPEFKLTTLLLKTIPMSTKPANELPLTPRETVVPSVDIISTLACIQPNFS +TEESASETTQTEINGAIVFGGTTTPVPKSATTQRLNATVTRKEATSHYLMRKSTIAAVAEVSPFSTMLEVTDESAQRVTASVTVSSFPDIEKLSTPLDNK +TATTEVRESWLLTKLVKTTPRSSYNEMTEMFNFNHTYVAHWTSETSEGISAGSPTSGSTHIFGEPLGASTTRISETSFSTTPTDRTATSLSDGILPPQPT +AAHSSATPVPVTHMFSLPVNGSSVVAEETEVTMSEPSTLARAFSTSVLSDVSNLSSTTMTTALVPPLDQTASTTIVIVPTHGDLIRTTSEATVISVRKTS +MAVPSLTETPFHSLRLSTPVTAKAETTLFSTSVDTVTPSTHTLVCSKPPPDNIPPASSTHVISTTSTPEATQPISQVEETSTYALSFPYTFSGGGVVASL +ATGTTETSVVDETTPSHISANKLTTSVNSHISSSATYRVHTPVSIQLVTSTSVLSSDKDQMTISLGKTPRTMEVTEMSPSKNSFISYSRGTPSLEMTDTG +FPETTKISSHQTHSPSEIPLGTPSDGNLASSPTSGSTQITPTLTSSNTVGVHIPEMSTSLGKTALPSQALTITTFLCPEKESTSALPAYTPRTVEMIVNS +TYVTHSVSYGQDTSFVDTTTSSSTRISNPMDINTTFSHLHSLRTQPEVTSVASFISESTQTFPESLSLSTAGLYNDGFTVLSDRITTAFSVPNVPTMLPR +ESSMATSTPIYQMSSLPVNVTAFTSKKVSDTPPIVITKSSKTMHPGCLKSPCTATSGPMSEMSSIPVNNSAFTPATVSSDTSTRVGLFSTLLSSVTPRTT +MTMQTSTLDVTPVIYAGATSKNKMVSSAFTTEMIEAPSRITPTTFLSPTEPTLPFVKTVPTTIMAGIVTPFVGTTAFSPLSSKSTGAISSIPKTTFSPFL +SATQQSSQADEATTLGILSGITNRSLSTVNSGTGVALTDTYSRITVPENMLSPTHADSLHTSFNIQVSPSLTSFKSASGPTKNVKTTTNCFSSNTRKMTS +LLEKTSLTNYATSLNTPVSYPPWTPSSATLPSLTSFVYSPHSTEAEISTPKTSPPPTSQMVEFPVLGTRMTSSNTQPLLMTSWNIPTAEGSQFPISTTIN +VPTSNEMETETLHLVPGPLSTFTASQTGLVSKDVMAMSSIPMSGILPNHGLSENPSLSTSLRAITSTLADVKHTFEKMTTSVTPGTTLPSILSGATSGSV +ISKSPILTWLLSSLPSGSPPATVSNAPHVMTSSTVEVSKSTFLTSDMISAHPFTNLTTLPSATMSTILTRTIPTPTLGGITTGFPTSLPMSINVTDDIVY +ISTHPEASSRTTITANPRTVSHPSSFSRKTMSPSTTDHTLSVGAMPLPSSTITSSWNRIPTASSPSTLIIPKPTLDSLLNIMTTTSTVPGASFPLISTGV +TYPFTATVSSPISSFFETTWLDSTPSFLSTEASTSPTATKSTVSFYNVEMSFSVFVEEPRIPITSVINEFTENSLNSIFQNSEFSLATLETQIKSRDISE +EEMVMDRAILEQREGQEMATISYVPYSCVCQVIIKASSSLASSELMRKIKSKIHGNFTHGNFTQDQLTLLVNCEHVAVKKLEPGNCKADETASKYKGTYK +WLLTNPTETAQTRCIKNEDGNATRFCSISINTGKSQWEKPKFKQCKLLQELPDKIVDLANITISDENAEDVAEHILNLINESPALGKEETKIIVSKISDI +SQCDEISMNLTHVMLQIINVVLEKQNNSASDLHEISNEILRIIERTGHKMEFSGQIANLTVAGLALAVLRGDHTFDGMAFSIHSYEEGTDPEIFLGNVPV +GGILASIYLPKSLTERIPLSNLQTILFNFFGQTSLFKTKNVTKALTTYVVSASISDMFIQNLADPVVITLQHIGGNQNYGQVHCAFWDFENNNGLGGWNS +SGCKVKETNVNYTICQCDHLTHFGVLMDLSRSTVDSVNEQILALITYTGCGISSIFLGVAVVTYIAFHKLRKDYPAKILINLCTALLMLNLVFLINSWLS +SFQKVGVCITAAVALHYFLLVSFTWMGLEAVHMYLALVKVFNIYIPNYILKFCLVGWGIPAIMVAITVSVKKDLYGTLSPTTPFCWIKDDSIFYISVVAY +FCLIFLMNLSMFCTVLVQLNSVKSQIQKTRRKMILHDLKGTMSLTFLLGLTWGFAFFAWGPMRNFFLYLFAIFNTLQGFFIFVFHCVMKESVREQWQIHL +CCGWLRLDNSSDGSSRCQIKVGYKQEGLKKIFEHKLLTPSLKSTATSSTFKSLGSAQGTPSEISFPNDDFDKDPYCSSP* +>line56312 NM_001177465 WILDTYPE +MDDWKSRLVIKSMLPHFAMVGNRQEPRKLQESGTVKRRQEEDHFQFPDMADGGYPNKIKRPCLEDVTLAMGPGAHPSTACAELQVPPLTINPSPAAMGVA +GQSLLLENNPMNGNIMGSPFVVPQTTEVGLKGPTVPYYEKINSVPAVDQELQELLEELTKIQDPSPNELDLEKILGTKPEEPLVLDHPQATLSTTPKPSV +QMSHLESLASSKEFASSCSQVTGMSLQIPSSSTGISYSIPSTSKQIVSPSSSMAQSKSQVQAMLPVALPPLPVPQWHHAHQLKALAASKQGSATKQQGPT +PSWSGLPPPGLSPPYRPVPSPHPPPLPLPPPPPPFSPQSLMVSCMSSNTLSGSTLRGSPNALLSSMTSSSNAALGPAMPYAPEKLPSPALTQQPQFGPQS +SILANLMSSTIKTPQGHLMSALPASNPGPSPPYRPEKLSSPGLPQQSFTPQCSLIRSLTPTSNLLSQQQQQQQQQQQANVIFKPISSNSSKTLSMIMQQG +MASSSPGATEPFTFGNTKPLSHFVSEPGPQKMPSMPTTSRQPSLLHYLQQPTPTQASSATASSTATATLQLQQQQQQQQQQPDHSSFLLQQMMQQPQRFQ +RSVASDSMPALPRQQEEQRSGLMAMTPERQNAYISQQMSPFEAVQEQVTSKCSRIKASPPSSKHLMPPRTGLLQNNLSPGMIPLTRHQSCEGMGVISPTL +GKRQGIFTSSPQCPILSHSGQTPLGRLDSVCQHMQSPKATPPEVPLPGFCPSSLGTQSLSPHQLRRPSVPRMPTAFNNAAWVTAAAAVTTAVSGKTPLSQ +VDNSVQQHSPSGQACLQRPSDWEAQVPAAMGTQVPLANNPSFSLLGSQSLRQSPVQGPVPVANTTKFLQQGMASFSPLSPIQGIEPPSYVAAAATAAAAS +AVAASQFPGPFDRTDIPPELPPADFLRQPQPPLNDLISSPDCNEVDFIEALLKGSCVSPDEDWVCNLRLIDDILEQHAAAQNATAQNSGQVTQDAGAL* +>line56312 NM_001177465 c.1405_1407del p.Q477del protein-altering (position 477 changed from Q to ) +MDDWKSRLVIKSMLPHFAMVGNRQEPRKLQESGTVKRRQEEDHFQFPDMADGGYPNKIKRPCLEDVTLAMGPGAHPSTACAELQVPPLTINPSPAAMGVA +GQSLLLENNPMNGNIMGSPFVVPQTTEVGLKGPTVPYYEKINSVPAVDQELQELLEELTKIQDPSPNELDLEKILGTKPEEPLVLDHPQATLSTTPKPSV +QMSHLESLASSKEFASSCSQVTGMSLQIPSSSTGISYSIPSTSKQIVSPSSSMAQSKSQVQAMLPVALPPLPVPQWHHAHQLKALAASKQGSATKQQGPT +PSWSGLPPPGLSPPYRPVPSPHPPPLPLPPPPPPFSPQSLMVSCMSSNTLSGSTLRGSPNALLSSMTSSSNAALGPAMPYAPEKLPSPALTQQPQFGPQS +SILANLMSSTIKTPQGHLMSALPASNPGPSPPYRPEKLSSPGLPQQSFTPQCSLIRSLTPTSNLLSQQQQQQQQQQANVIFKPISSNSSKTLSMIMQQGM +ASSSPGATEPFTFGNTKPLSHFVSEPGPQKMPSMPTTSRQPSLLHYLQQPTPTQASSATASSTATATLQLQQQQQQQQQQPDHSSFLLQQMMQQPQRFQR +SVASDSMPALPRQQEEQRSGLMAMTPERQNAYISQQMSPFEAVQEQVTSKCSRIKASPPSSKHLMPPRTGLLQNNLSPGMIPLTRHQSCEGMGVISPTLG +KRQGIFTSSPQCPILSHSGQTPLGRLDSVCQHMQSPKATPPEVPLPGFCPSSLGTQSLSPHQLRRPSVPRMPTAFNNAAWVTAAAAVTTAVSGKTPLSQV +DNSVQQHSPSGQACLQRPSDWEAQVPAAMGTQVPLANNPSFSLLGSQSLRQSPVQGPVPVANTTKFLQQGMASFSPLSPIQGIEPPSYVAAAATAAAASA +VAASQFPGPFDRTDIPPELPPADFLRQPQPPLNDLISSPDCNEVDFIEALLKGSCVSPDEDWVCNLRLIDDILEQHAAAQNATAQNSGQVTQDAGAL* +>line56313 NM_001177465 WILDTYPE +MDDWKSRLVIKSMLPHFAMVGNRQEPRKLQESGTVKRRQEEDHFQFPDMADGGYPNKIKRPCLEDVTLAMGPGAHPSTACAELQVPPLTINPSPAAMGVA +GQSLLLENNPMNGNIMGSPFVVPQTTEVGLKGPTVPYYEKINSVPAVDQELQELLEELTKIQDPSPNELDLEKILGTKPEEPLVLDHPQATLSTTPKPSV +QMSHLESLASSKEFASSCSQVTGMSLQIPSSSTGISYSIPSTSKQIVSPSSSMAQSKSQVQAMLPVALPPLPVPQWHHAHQLKALAASKQGSATKQQGPT +PSWSGLPPPGLSPPYRPVPSPHPPPLPLPPPPPPFSPQSLMVSCMSSNTLSGSTLRGSPNALLSSMTSSSNAALGPAMPYAPEKLPSPALTQQPQFGPQS +SILANLMSSTIKTPQGHLMSALPASNPGPSPPYRPEKLSSPGLPQQSFTPQCSLIRSLTPTSNLLSQQQQQQQQQQQANVIFKPISSNSSKTLSMIMQQG +MASSSPGATEPFTFGNTKPLSHFVSEPGPQKMPSMPTTSRQPSLLHYLQQPTPTQASSATASSTATATLQLQQQQQQQQQQPDHSSFLLQQMMQQPQRFQ +RSVASDSMPALPRQQEEQRSGLMAMTPERQNAYISQQMSPFEAVQEQVTSKCSRIKASPPSSKHLMPPRTGLLQNNLSPGMIPLTRHQSCEGMGVISPTL +GKRQGIFTSSPQCPILSHSGQTPLGRLDSVCQHMQSPKATPPEVPLPGFCPSSLGTQSLSPHQLRRPSVPRMPTAFNNAAWVTAAAAVTTAVSGKTPLSQ +VDNSVQQHSPSGQACLQRPSDWEAQVPAAMGTQVPLANNPSFSLLGSQSLRQSPVQGPVPVANTTKFLQQGMASFSPLSPIQGIEPPSYVAAAATAAAAS +AVAASQFPGPFDRTDIPPELPPADFLRQPQPPLNDLISSPDCNEVDFIEALLKGSCVSPDEDWVCNLRLIDDILEQHAAAQNATAQNSGQVTQDAGAL* +>line56313 NM_001177465 c.1713_1715del p.Q581del protein-altering (position 581 changed from Q to ) +MDDWKSRLVIKSMLPHFAMVGNRQEPRKLQESGTVKRRQEEDHFQFPDMADGGYPNKIKRPCLEDVTLAMGPGAHPSTACAELQVPPLTINPSPAAMGVA +GQSLLLENNPMNGNIMGSPFVVPQTTEVGLKGPTVPYYEKINSVPAVDQELQELLEELTKIQDPSPNELDLEKILGTKPEEPLVLDHPQATLSTTPKPSV +QMSHLESLASSKEFASSCSQVTGMSLQIPSSSTGISYSIPSTSKQIVSPSSSMAQSKSQVQAMLPVALPPLPVPQWHHAHQLKALAASKQGSATKQQGPT +PSWSGLPPPGLSPPYRPVPSPHPPPLPLPPPPPPFSPQSLMVSCMSSNTLSGSTLRGSPNALLSSMTSSSNAALGPAMPYAPEKLPSPALTQQPQFGPQS +SILANLMSSTIKTPQGHLMSALPASNPGPSPPYRPEKLSSPGLPQQSFTPQCSLIRSLTPTSNLLSQQQQQQQQQQQANVIFKPISSNSSKTLSMIMQQG +MASSSPGATEPFTFGNTKPLSHFVSEPGPQKMPSMPTTSRQPSLLHYLQQPTPTQASSATASSTATATLQLQQQQQQQQQPDHSSFLLQQMMQQPQRFQR +SVASDSMPALPRQQEEQRSGLMAMTPERQNAYISQQMSPFEAVQEQVTSKCSRIKASPPSSKHLMPPRTGLLQNNLSPGMIPLTRHQSCEGMGVISPTLG +KRQGIFTSSPQCPILSHSGQTPLGRLDSVCQHMQSPKATPPEVPLPGFCPSSLGTQSLSPHQLRRPSVPRMPTAFNNAAWVTAAAAVTTAVSGKTPLSQV +DNSVQQHSPSGQACLQRPSDWEAQVPAAMGTQVPLANNPSFSLLGSQSLRQSPVQGPVPVANTTKFLQQGMASFSPLSPIQGIEPPSYVAAAATAAAASA +VAASQFPGPFDRTDIPPELPPADFLRQPQPPLNDLISSPDCNEVDFIEALLKGSCVSPDEDWVCNLRLIDDILEQHAAAQNATAQNSGQVTQDAGAL* +>line56343 NM_004224 WILDTYPE +MGPTLAVPTPYGCIGCKLPQPEYPPALIIFMFCAMVITIVVDLIGNSMVILAVTKNKKLRNSGNIFVVSLSVADMLVAIYPYPLMLHAMSIGGWDLSQLQ +CQMVGFITGLSVVGSIFNIVAIAINRYCYICHSLQYERIFSVRNTCIYLVITWIMTVLAVLPNMYIGTIEYDPRTYTCIFNYLNNPVFTVTIVCIHFVLP +LLIVGFCYVRIWTKVLAARDPAGQNPDNQLAEVRNFLTMFVIFLLFAVCWCPINVLTVLVAVSPKEMAGKIPNWLYLAAYFIAYFNSCLNAVIYGLLNEN +FRREYWTIFHAMRHPIIFFSGLISDIREMQEARTLARARAHARDQAREQDRAHACPAVEETPMNVRNVPLPGDAAAGHPDRASGHPKPHSRSSSAYRKSA +STHHKSVFSHSKAASGHLKPVSGHSKPASGHPKSATVYPKPASVHFKADSVHFKGDSVHFKPDSVHFKPASSNPKPITGHHVSAGSHSKSAFSAATSHPK +PTTGHIKPATSHAEPTTADYPKPATTSHPKPTAADNPELSASHCPEIPAIAHPVSDDSDLPESASSPAAGPTKPAASQLESDTIADLPDPTVVTTSTNDY +HDVVVIDVEDDPDEMAV* +>line56343 NM_004224 c.1503_1514del p.T502_H505del protein-altering (position 502-505 changed from TTGH to ) +MGPTLAVPTPYGCIGCKLPQPEYPPALIIFMFCAMVITIVVDLIGNSMVILAVTKNKKLRNSGNIFVVSLSVADMLVAIYPYPLMLHAMSIGGWDLSQLQ +CQMVGFITGLSVVGSIFNIVAIAINRYCYICHSLQYERIFSVRNTCIYLVITWIMTVLAVLPNMYIGTIEYDPRTYTCIFNYLNNPVFTVTIVCIHFVLP +LLIVGFCYVRIWTKVLAARDPAGQNPDNQLAEVRNFLTMFVIFLLFAVCWCPINVLTVLVAVSPKEMAGKIPNWLYLAAYFIAYFNSCLNAVIYGLLNEN +FRREYWTIFHAMRHPIIFFSGLISDIREMQEARTLARARAHARDQAREQDRAHACPAVEETPMNVRNVPLPGDAAAGHPDRASGHPKPHSRSSSAYRKSA +STHHKSVFSHSKAASGHLKPVSGHSKPASGHPKSATVYPKPASVHFKADSVHFKGDSVHFKPDSVHFKPASSNPKPITGHHVSAGSHSKSAFSAATSHPK +PIKPATSHAEPTTADYPKPATTSHPKPTAADNPELSASHCPEIPAIAHPVSDDSDLPESASSPAAGPTKPAASQLESDTIADLPDPTVVTTSTNDYHDVV +VIDVEDDPDEMAV* +>line56405 NM_001102576 WILDTYPE +MSATTACWPAFTVLGEARGDQVDWSRLYRDTGLVKMSRKPRASSPFSNNHPSTPKRFPRQPKREKGPVKEVPGTKGSP* +>line56405 NM_001102576 c.83_84TG p.Y28L protein-altering (position 28 changed from Y to L) +MSATTACWPAFTVLGEARGDQVDWSRLLRDTGLVKMSRKPRASSPFSNNHPSTPKRFPRQPKREKGPVKEVPGTKGSP* +>line56541 NM_001363 WILDTYPE +MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNP +SSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIY +ESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV +MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDK +HGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKK +KKKKKAKEVELVSE* +>line56541 NM_001363 c.1492_1494del p.K505del protein-altering (position 505 changed from K to ) +MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNP +SSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIY +ESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV +MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDK +HGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKK +KKKKAKEVELVSE* diff --git a/Validation/7_Annovar/annovar_66_germ_out1.exonic_variant_function b/Validation/7_Annovar/annovar_66_germ_out1.exonic_variant_function new file mode 100644 index 0000000..d8fc615 --- /dev/null +++ b/Validation/7_Annovar/annovar_66_germ_out1.exonic_variant_function @@ -0,0 +1,6361 @@ +line41 nonsynonymous SNV PERM1:NM_001291366:exon2:c.G1571A:p.R524Q,PERM1:NM_001291367:exon3:c.G1289A:p.R430Q, chr1 914839 914839 C T het . 3 +line42 nonsynonymous SNV PERM1:NM_001291366:exon2:c.C1558G:p.Q520E,PERM1:NM_001291367:exon3:c.C1276G:p.Q426E, chr1 914852 914852 G C het . 5 +line43 nonsynonymous SNV PERM1:NM_001291366:exon2:c.A1534G:p.S512G,PERM1:NM_001291367:exon3:c.A1252G:p.S418G, chr1 914876 914876 T C het . 14 +line58 nonsynonymous SNV MIB2:NM_080875:exon3:c.T305C:p.M102T,MIB2:NM_001170688:exon3:c.T305C:p.M102T,MIB2:NM_001170686:exon3:c.T305C:p.M102T, chr1 1558792 1558792 T C het . 4 +line65 nonsynonymous SNV CDK11A:NM_024011:exon4:c.A335G:p.H112R,CDK11B:NM_001787:exon4:c.A335G:p.H112R,CDK11B:NM_033486:exon4:c.A335G:p.H112R,CDK11B:NM_033489:exon5:c.A233G:p.H78R, chr1 1650787 1650787 T C het . 19 +line66 nonsynonymous SNV CDK11A:NM_001313896:exon4:c.T325C:p.W109R,CDK11A:NM_024011:exon4:c.T325C:p.C109R,CDK11A:NM_033529:exon4:c.T325C:p.W109R,CDK11B:NM_001787:exon4:c.T325C:p.C109R,CDK11B:NM_033486:exon4:c.T325C:p.C109R,CDK11B:NM_033489:exon5:c.T223C:p.C75R,CDK11A:NM_001313982:exon4:c.T325C:p.W109R,CDK11B:NM_001291345:exon4:c.T325C:p.W109R, chr1 1650797 1650797 A G het . 21 +line67 synonymous SNV CDK11A:NM_001313896:exon4:c.A321G:p.E107E,CDK11A:NM_024011:exon4:c.A321G:p.E107E,CDK11A:NM_033529:exon4:c.A321G:p.E107E,CDK11B:NM_001787:exon4:c.A321G:p.E107E,CDK11B:NM_033486:exon4:c.A321G:p.E107E,CDK11B:NM_033489:exon5:c.A219G:p.E73E,CDK11A:NM_001313982:exon4:c.A321G:p.E107E,CDK11B:NM_001291345:exon4:c.A321G:p.E107E, chr1 1650801 1650801 T C het . 20 +line68 synonymous SNV CDK11A:NM_001313896:exon4:c.A315G:p.R105R,CDK11A:NM_024011:exon4:c.A315G:p.R105R,CDK11A:NM_033529:exon4:c.A315G:p.R105R,CDK11B:NM_001787:exon4:c.A315G:p.R105R,CDK11B:NM_033486:exon4:c.A315G:p.R105R,CDK11B:NM_033489:exon5:c.A213G:p.R71R,CDK11A:NM_001313982:exon4:c.A315G:p.R105R,CDK11B:NM_001291345:exon4:c.A315G:p.R105R, chr1 1650807 1650807 T C het . 18 +line69 nonsynonymous SNV CDK11A:NM_001313896:exon4:c.T290C:p.V97A,CDK11A:NM_024011:exon4:c.T290C:p.V97A,CDK11A:NM_033529:exon4:c.T290C:p.V97A,CDK11B:NM_001787:exon4:c.T290C:p.V97A,CDK11B:NM_033486:exon4:c.T290C:p.V97A,CDK11B:NM_033489:exon5:c.T188C:p.V63A,CDK11A:NM_001313982:exon4:c.T290C:p.V97A,CDK11B:NM_001291345:exon4:c.T290C:p.V97A, chr1 1650832 1650832 A G het . 19 +line73 nonsynonymous SNV NADK:NM_001198994:exon6:c.G719C:p.G240A, chr1 1688606 1688606 C G het . 8 +line92 nonsynonymous SNV PRKCZ:NM_001350803:exon15:c.G1195C:p.E399Q,PRKCZ:NM_001242874:exon15:c.G1408C:p.E470Q,PRKCZ:NM_001350806:exon15:c.G1009C:p.E337Q,PRKCZ:NM_001350804:exon16:c.G1195C:p.E399Q,PRKCZ:NM_001033582:exon15:c.G1171C:p.E391Q,PRKCZ:NM_001033581:exon15:c.G1171C:p.E391Q,PRKCZ:NM_001350805:exon15:c.G1009C:p.E337Q,PRKCZ:NM_002744:exon18:c.G1720C:p.E574Q, chr1 2116389 2116389 G C het . 20 +line96 nonsynonymous SNV MORN1:NM_024848:exon9:c.C757T:p.R253W,MORN1:NM_001301060:exon9:c.C757T:p.R253W, chr1 2290143 2290143 G A het . 12 +line101 nonframeshift deletion MMEL1:NM_033467:exon2:c.103_105del:p.35_35del, chr1 2560819 2560821 CAG - het . 9 +line104 nonsynonymous SNV ACTRT2:NM_080431:exon1:c.T713G:p.V238G, chr1 2938963 2938963 T G het . 13 +line105 nonsynonymous SNV ACTRT2:NM_080431:exon1:c.G739A:p.G247R, chr1 2938989 2938989 G A het . 12 +line108 synonymous SNV ARHGEF16:NM_014448:exon4:c.A801G:p.P267P, chr1 3383898 3383898 A G het . 7 +line110 synonymous SNV ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S, chr1 3394456 3394456 T C het . 14 +line119 nonsynonymous SNV CCDC27:NM_152492:exon8:c.C1397T:p.T466M, chr1 3680345 3680345 C T het . 22 +line136 synonymous SNV NPHP4:NM_015102:exon26:c.A3570G:p.E1190E,NPHP4:NM_001291593:exon23:c.A2031G:p.E677E,NPHP4:NM_001291594:exon22:c.A2034G:p.E678E, chr1 5926507 5926507 T C het . 20 +line138 nonsynonymous SNV NPHP4:NM_015102:exon24:c.C3329T:p.A1110V,NPHP4:NM_001291593:exon21:c.C1790T:p.A597V,NPHP4:NM_001291594:exon20:c.C1793T:p.A598V, chr1 5927943 5927943 G A het . 16 +line146 synonymous SNV CHD5:NM_015557:exon10:c.G1551T:p.G517G, chr1 6206764 6206764 C A het . 6 +line147 nonsynonymous SNV RPL22:NM_000983:exon2:c.T20C:p.L7P, chr1 6257809 6257809 A G het . 23 +line150 synonymous SNV RNF207:NM_207396:exon18:c.G1803A:p.P601P, chr1 6279365 6279365 G A het . 15 +line155 nonframeshift deletion PLEKHG5:NM_020631:exon3:c.127_129del:p.43_43del,PLEKHG5:NM_001265592:exon4:c.364_366del:p.122_122del,PLEKHG5:NM_001042663:exon4:c.295_297del:p.99_99del,PLEKHG5:NM_001265594:exon3:c.127_129del:p.43_43del,PLEKHG5:NM_001265593:exon3:c.334_336del:p.112_112del,PLEKHG5:NM_198681:exon4:c.358_360del:p.120_120del,PLEKHG5:NM_001042665:exon3:c.127_129del:p.43_43del,PLEKHG5:NM_001042664:exon3:c.127_129del:p.43_43del, chr1 6536011 6536013 CTC - het . 22 +line176 nonsynonymous SNV CAMTA1:NM_001349612:exon8:c.C986T:p.P329L,CAMTA1:NM_001349610:exon9:c.C1076T:p.P359L,CAMTA1:NM_001349608:exon8:c.C986T:p.P329L,CAMTA1:NM_015215:exon9:c.C1076T:p.P359L,CAMTA1:NM_001349609:exon9:c.C1076T:p.P359L, chr1 7723683 7723683 C T het . 8 +line179 nonsynonymous SNV PER3:NM_001289863:exon17:c.T2039C:p.L680P,PER3:NM_001289861:exon17:c.T2060C:p.L687P,PER3:NM_016831:exon17:c.T2036C:p.L679P,PER3:NM_001289864:exon17:c.T1103C:p.L368P,PER3:NM_001289862:exon17:c.T2060C:p.L687P, chr1 7886642 7886642 T C het . 44 +line190 synonymous SNV SLC45A1:NM_001080397:exon5:c.G1029A:p.P343P, chr1 8390480 8390480 G A het . 12 +line191 synonymous SNV SLC45A1:NM_001080397:exon5:c.A1044G:p.P348P, chr1 8390495 8390495 A G het . 14 +line197 synonymous SNV CA6:NM_001270500:exon2:c.G228C:p.G76G,CA6:NM_001215:exon2:c.G228C:p.G76G, chr1 9009470 9009470 G C het . 3 +line215 nonsynonymous SNV UBE4B:NM_006048:exon15:c.C1675A:p.L559M,UBE4B:NM_001105562:exon16:c.C2062A:p.L688M, chr1 10195082 10195082 C A het . 20 +line228 synonymous SNV CENPS-CORT:NM_198544:exon5:c.T432C:p.S144S,CENPS-CORT:NM_001243768:exon4:c.T369C:p.S123S,CORT:NM_001302:exon2:c.T255C:p.S85S, chr1 10511589 10511589 T C het . 11 +line233 nonsynonymous SNV CASZ1:NM_017766:exon6:c.T794C:p.V265A,CASZ1:NM_001079843:exon6:c.T794C:p.V265A, chr1 10720305 10720305 A G het . 20 +line235 nonsynonymous SNV TARDBP:NM_007375:exon5:c.C570G:p.S190R, chr1 11080512 11080512 C G het . 18 +line237 nonsynonymous SNV MASP2:NM_006610:exon9:c.G1111T:p.D371Y, chr1 11090916 11090916 C A het . 8 +line253 nonsynonymous SNV C1orf167:NM_001010881:exon11:c.G2471T:p.S824I, chr1 11838848 11838848 G T het . 7 +line255 synonymous SNV C1orf167:NM_001010881:exon15:c.C3105T:p.A1035A, chr1 11844330 11844330 C T het . 5 +line258 synonymous SNV MFN2:NM_001127660:exon3:c.A237G:p.K79K,MFN2:NM_014874:exon4:c.A237G:p.K79K, chr1 12052673 12052673 A G het . 36 +line267 nonsynonymous SNV VPS13D:NM_018156:exon63:c.C11959A:p.L3987I,VPS13D:NM_015378:exon64:c.C12034A:p.L4012I, chr1 12475143 12475143 C A het . 19 +line270 synonymous SNV AADACL4:NM_001013630:exon1:c.G21A:p.V7V, chr1 12704586 12704586 G A het . 5 +line278 nonsynonymous SNV PRAMEF6:NM_001010889:exon3:c.G427A:p.G143R, chr1 13001256 13001256 C T het . 6 +line293 nonsynonymous SNV PRDM2:NM_015866:exon8:c.T849A:p.D283E,PRDM2:NM_012231:exon8:c.T849A:p.D283E,PRDM2:NM_001007257:exon3:c.T246A:p.D82E, chr1 14105139 14105139 T A het . 14 +line294 nonframeshift insertion PRDM2:NM_015866:exon8:c.2104_2105insCTC:p.T702delinsTP,PRDM2:NM_012231:exon8:c.2104_2105insCTC:p.T702delinsTP,PRDM2:NM_001007257:exon3:c.1501_1502insCTC:p.T501delinsTP, chr1 14106394 14106394 - CTC het . 23 +line312 nonsynonymous SNV PLEKHM2:NM_015164:exon2:c.T95C:p.I32T, chr1 16042766 16042766 T C het . 13 +line315 nonsynonymous SNV SPEN:NM_015001:exon11:c.T6021A:p.D2007E, chr1 16258756 16258756 T A het . 10 +line316 synonymous SNV HSPB7:NM_014424:exon1:c.C57T:p.S19S,HSPB7:NM_001349683:exon1:c.C57T:p.S19S,HSPB7:NM_001349689:exon1:c.C57T:p.S19S,HSPB7:NM_001349688:exon1:c.C57T:p.S19S,HSPB7:NM_001349685:exon1:c.C57T:p.S19S,HSPB7:NM_001349686:exon1:c.C57T:p.S19S,HSPB7:NM_001349687:exon1:c.C57T:p.S19S, chr1 16344402 16344402 G A het . 9 +line317 nonsynonymous SNV CLCNKA:NM_001042704:exon4:c.A247G:p.R83G,CLCNKA:NM_004070:exon4:c.A247G:p.R83G, chr1 16351275 16351275 A G het . 6 +line320 nonframeshift substitution CLCNKB:NM_000085:exon7:c.641_642GC, chr1 16375063 16375064 CA GC het . 14 +line334 unknown UNKNOWN chr1 16891365 16891365 G A het . 68 +line335 unknown UNKNOWN chr1 16895634 16895634 T G het . 2 +line378 synonymous SNV CROCC:NM_014675:exon9:c.G1014A:p.A338A, chr1 17263189 17263189 G A het . 13 +line386 nonsynonymous SNV PADI2:NM_007365:exon6:c.A553C:p.I185L, chr1 17419005 17419005 T G het . 5 +line408 synonymous SNV TAS1R2:NM_152232:exon4:c.C1404T:p.Y468Y, chr1 19175898 19175898 G A het . 22 +line418 nonsynonymous SNV UBR4:NM_020765:exon95:c.A13936G:p.K4646E, chr1 19420444 19420444 T C het . 5 +line419 synonymous SNV UBR4:NM_020765:exon83:c.G12237T:p.G4079G, chr1 19433219 19433219 C A het . 6 +line421 synonymous SNV UBR4:NM_020765:exon76:c.G11256A:p.Q3752Q, chr1 19440511 19440511 C T het . 16 +line438 nonsynonymous SNV PLA2G2D:NM_012400:exon3:c.G188T:p.C63F, chr1 20442104 20442104 C A het . 17 +line445 nonsynonymous SNV KIF17:NM_001287212:exon5:c.A721G:p.I241V,KIF17:NM_001122819:exon5:c.A1021G:p.I341V,KIF17:NM_020816:exon5:c.A1021G:p.I341V, chr1 21031042 21031042 T C het . 29 +line446 nonsynonymous SNV KIF17:NM_001287212:exon5:c.A698G:p.K233R,KIF17:NM_001122819:exon5:c.A998G:p.K333R,KIF17:NM_020816:exon5:c.A998G:p.K333R, chr1 21031065 21031065 T C het . 30 +line447 nonsynonymous SNV SH2D5:NM_001103161:exon3:c.T143C:p.V48A, chr1 21054041 21054041 A G het . 15 +line450 nonsynonymous SNV EIF4G3:NM_001198802:exon35:c.G4648T:p.D1550Y,EIF4G3:NM_003760:exon32:c.G4630T:p.D1544Y,EIF4G3:NM_001198801:exon35:c.G4738T:p.D1580Y, chr1 21133940 21133940 C A het . 14 +line461 synonymous SNV ALPL:NM_001177520:exon7:c.A645G:p.P215P,ALPL:NM_000478:exon9:c.A876G:p.P292P,ALPL:NM_001127501:exon8:c.A711G:p.P237P, chr1 21900171 21900171 A G het . 23 +line473 nonsynonymous SNV HSPG2:NM_001291860:exon11:c.G1262T:p.G421V,HSPG2:NM_005529:exon11:c.G1262T:p.G421V, chr1 22211599 22211599 C A het . 6 +line480 nonsynonymous SNV CELA3A:NM_005747:exon7:c.C722G:p.A241G, chr1 22336277 22336277 C G het . 15 +line481 synonymous SNV CELA3A:NM_005747:exon7:c.C750T:p.P250P, chr1 22336305 22336305 C T het . 13 +line482 synonymous SNV CELA3A:NM_005747:exon7:c.G753A:p.T251T, chr1 22336308 22336308 G A het . 13 +line486 nonsynonymous SNV ZBTB40:NM_001083621:exon7:c.C1305A:p.N435K,ZBTB40:NM_001330398:exon4:c.C969A:p.N323K,ZBTB40:NM_014870:exon6:c.C1305A:p.N435K, chr1 22832679 22832679 C A het . 36 +line488 nonframeshift deletion ZBTB40:NM_001083621:exon12:c.2395_2397del:p.799_799del,ZBTB40:NM_001330398:exon9:c.2059_2061del:p.687_687del,ZBTB40:NM_014870:exon11:c.2395_2397del:p.799_799del, chr1 22838561 22838563 AAG - het . 25 +line489 nonsynonymous SNV ZBTB40:NM_001083621:exon15:c.C2961A:p.F987L,ZBTB40:NM_001330398:exon12:c.C2625A:p.F875L,ZBTB40:NM_014870:exon14:c.C2961A:p.F987L, chr1 22846681 22846681 C A het . 21 +line490 nonsynonymous SNV ZBTB40:NM_001083621:exon15:c.G2989A:p.V997M,ZBTB40:NM_001330398:exon12:c.G2653A:p.V885M,ZBTB40:NM_014870:exon14:c.G2989A:p.V997M, chr1 22846709 22846709 G A het . 21 +line491 nonsynonymous SNV ZBTB40:NM_001083621:exon17:c.C3277A:p.H1093N,ZBTB40:NM_001330398:exon14:c.C2941A:p.H981N,ZBTB40:NM_014870:exon16:c.C3277A:p.H1093N, chr1 22848935 22848935 C A het . 23 +line494 synonymous SNV LUZP1:NM_033631:exon4:c.C1494T:p.S498S,LUZP1:NM_001142546:exon3:c.C1494T:p.S498S, chr1 23419261 23419261 G A het . 11 +line500 nonsynonymous SNV GALE:NM_001008216:exon4:c.G173T:p.R58L,GALE:NM_001127621:exon3:c.G173T:p.R58L,GALE:NM_000403:exon4:c.G173T:p.R58L, chr1 24125169 24125169 C A het . 18 +line513 nonsynonymous SNV IL22RA1:NM_021258:exon3:c.C266G:p.T89R, chr1 24463710 24463710 G C het . 13 +line519 nonsynonymous SNV GRHL3:NM_198173:exon2:c.C165G:p.D55E,GRHL3:NM_198174:exon2:c.C165G:p.D55E,GRHL3:NM_021180:exon2:c.C180G:p.D60E,GRHL3:NM_001195010:exon2:c.C27G:p.D9E, chr1 24658063 24658063 C G het . 11 +line523 nonsynonymous SNV NCMAP:NM_001010980:exon4:c.G217T:p.A73S, chr1 24932146 24932146 G T het . 14 +line524 synonymous SNV SRRM1:NM_001303448:exon16:c.A2334C:p.A778A,SRRM1:NM_001303449:exon16:c.A2217C:p.A739A,SRRM1:NM_005839:exon15:c.A2298C:p.A766A, chr1 24996704 24996704 A C het . 6 +line528 nonsynonymous SNV RHCE:NM_138617:exon3:c.A361T:p.M121L,RHCE:NM_138618:exon3:c.A361T:p.M121L,RHCE:NM_001330430:exon3:c.A361T:p.M121L,RHCE:NM_138616:exon3:c.A361T:p.M121L,RHCE:NM_020485:exon3:c.A361T:p.M121L, chr1 25729212 25729212 T A het . 23 +line544 frameshift deletion CNKSR1:NM_001297647:exon9:c.866delC:p.T289fs,CNKSR1:NM_001297648:exon9:c.71delC:p.T24fs,CNKSR1:NM_006314:exon9:c.845delC:p.T282fs, chr1 26510311 26510311 C - het . 12 +line545 nonsynonymous SNV CATSPER4:NM_198137:exon1:c.G65C:p.G22A, chr1 26517183 26517183 G C het . 14 +line552 nonsynonymous SNV CD52:NM_001803:exon2:c.A119G:p.N40S, chr1 26646726 26646726 A G het . 18 +line553 nonsynonymous SNV CD52:NM_001803:exon2:c.A123G:p.I41M, chr1 26646730 26646730 A G het . 17 +line555 nonsynonymous SNV CRYBG2:NM_001039775:exon2:c.G2540A:p.R847H, chr1 26670609 26670609 C T het . 9 +line556 frameshift deletion CRYBG2:NM_001039775:exon2:c.1614_1626del:p.P538fs, chr1 26671523 26671535 AAATGAGGCATCA - het . 3 +line557 frameshift deletion CRYBG2:NM_001039775:exon2:c.1607_1610del:p.G536fs, chr1 26671539 26671542 GCAC - het . 3 +line558 frameshift deletion CRYBG2:NM_001039775:exon2:c.1571_1604del:p.L524fs, chr1 26671545 26671578 GGGCCCTTCACGACCTCTTTCCAGGTGGGGAACA - het . 3 +line563 nonsynonymous SNV TENT5B:NM_052943:exon2:c.G670T:p.D224Y, chr1 27333043 27333043 C A het . 22 +line576 synonymous SNV STX12:NM_177424:exon1:c.C103A:p.R35R, chr1 28099921 28099921 C A het . 24 +line578 nonsynonymous SNV PPP1R8:NM_014110:exon5:c.A571G:p.R191G,PPP1R8:NM_138558:exon5:c.A145G:p.R49G, chr1 28169775 28169775 A G het . 28 +line579 nonsynonymous SNV RPA2:NM_002946:exon2:c.G56T:p.G19V,RPA2:NM_001355129:exon2:c.G68T:p.G23V,RPA2:NM_001297558:exon2:c.G80T:p.G27V, chr1 28240635 28240635 C A het . 9 +line581 nonsynonymous SNV DNAJC8:NM_014280:exon9:c.G652T:p.G218C, chr1 28527869 28527869 C A het . 17 +line594 nonsynonymous SNV SRSF4:NM_005626:exon6:c.G1066A:p.G356S, chr1 29475341 29475341 C T het . 15 +line595 nonsynonymous SNV SRSF4:NM_005626:exon6:c.G1013C:p.G338A, chr1 29475394 29475394 C G het . 14 +line608 nonsynonymous SNV SERINC2:NM_178865:exon10:c.A1243C:p.T415P,SERINC2:NM_001199038:exon11:c.A1270C:p.T424P,SERINC2:NM_018565:exon10:c.A1255C:p.T419P,SERINC2:NM_001199039:exon11:c.A1078C:p.T360P,SERINC2:NM_001199037:exon10:c.A1255C:p.T419P, chr1 31906921 31906921 A C het . 7 +line622 nonsynonymous SNV ZBTB8A:NM_001040441:exon5:c.G1253C:p.G418A, chr1 33065947 33065947 G C het . 15 +line633 synonymous SNV AK2:NM_001319139:exon7:c.C375T:p.I125I,AK2:NM_001625:exon6:c.C519T:p.I173I,AK2:NM_001319142:exon5:c.C393T:p.I131I,AK2:NM_001319140:exon7:c.C375T:p.I125I,AK2:NM_001199199:exon6:c.C495T:p.I165I,AK2:NM_013411:exon6:c.C519T:p.I173I,AK2:NM_001319141:exon6:c.C519T:p.I173I, chr1 33478983 33478983 G A het . 21 +line643 nonsynonymous SNV CSMD2:NM_001281956:exon2:c.G315T:p.Q105H,CSMD2:NM_052896:exon2:c.G195T:p.Q65H, chr1 34554667 34554667 C A het . 33 +line653 nonsynonymous SNV DLGAP3:NM_001080418:exon11:c.G2621T:p.G874V, chr1 35332749 35332749 C A het . 29 +line655 nonsynonymous SNV ZMYM6:NM_007167:exon9:c.C1232T:p.P411L, chr1 35476468 35476468 G A het . 11 +line656 nonsynonymous SNV ZMYM6:NM_007167:exon9:c.C1112T:p.S371F, chr1 35476588 35476588 G A het . 8 +line663 nonsynonymous SNV ZMYM4:NM_001350138:exon4:c.C168A:p.D56E,ZMYM4:NM_005095:exon3:c.C264A:p.D88E, chr1 35824704 35824704 C A het . 32 +line668 synonymous SNV NCDN:NM_014284:exon7:c.T1872C:p.P624P,NCDN:NM_001014839:exon8:c.T1872C:p.P624P,NCDN:NM_001014841:exon7:c.T1821C:p.P607P, chr1 36030946 36030946 T C het . 8 +line696 synonymous SNV GNL2:NM_001323623:exon11:c.C1320T:p.S440S,GNL2:NM_013285:exon10:c.C1116T:p.S372S,GNL2:NM_001323624:exon9:c.C567T:p.S189S, chr1 38041223 38041223 G A het . 4 +line708 nonsynonymous SNV INPP5B:NM_001297434:exon5:c.C448T:p.H150Y,INPP5B:NM_001350227:exon5:c.C280T:p.H94Y,INPP5B:NM_001350228:exon8:c.C280T:p.H94Y,INPP5B:NM_005540:exon11:c.C940T:p.H314Y, chr1 38353097 38353097 G A het . 19 +line731 nonframeshift substitution KIAA0754:NM_015038:exon1:c.2206_2207AA, chr1 39878143 39878144 CC AA het . 24 +line748 synonymous SNV ZFP69:NM_001320179:exon6:c.C660A:p.V220V,ZFP69:NM_198494:exon6:c.C660A:p.V220V,ZFP69:NM_001320178:exon6:c.C663A:p.V221V, chr1 40960810 40960810 C A het . 37 +line751 nonsynonymous SNV KCNQ4:NM_172163:exon13:c.A1820C:p.D607A,KCNQ4:NM_004700:exon14:c.A1982C:p.D661A, chr1 41304089 41304089 A C het . 21 +line759 synonymous SNV RIMKLA:NM_173642:exon5:c.T1047C:p.S349S, chr1 42880516 42880516 T C het . 10 +line773 nonsynonymous SNV FAM183A:NM_001101376:exon1:c.C5A:p.A2E, chr1 43613627 43613627 C A het . 11 +line806 nonsynonymous SNV ZSWIM5:NM_020883:exon11:c.C2387T:p.T796M, chr1 45500046 45500046 G A het . 11 +line827 synonymous SNV MAST2:NM_001324321:exon21:c.G2013A:p.S671S,MAST2:NM_001319245:exon21:c.G2475A:p.S825S,MAST2:NM_001324320:exon22:c.G2496A:p.S832S,MAST2:NM_015112:exon21:c.G2475A:p.S825S, chr1 46495832 46495832 G A het . 15 +line833 nonsynonymous SNV RAD54L:NM_003579:exon2:c.A62G:p.D21G,RAD54L:NM_001142548:exon3:c.A62G:p.D21G, chr1 46714242 46714242 A G het . 30 +line853 synonymous SNV FOXD2:NM_004474:exon1:c.T861C:p.H287H, chr1 47904668 47904668 T C het . 5 +line854 nonsynonymous SNV FOXD2:NM_004474:exon1:c.G1102C:p.A368P, chr1 47904909 47904909 G C het . 3 +line879 synonymous SNV NRDC:NM_002525:exon5:c.G894T:p.G298G,NRDC:NM_001101662:exon3:c.G690T:p.G230G,NRDC:NM_001242361:exon5:c.G498T:p.G166G, chr1 52301825 52301825 C A het . 19 +line895 nonsynonymous SNV SCP2:NM_001193599:exon9:c.C812A:p.T271K,SCP2:NM_001193617:exon9:c.C641A:p.T214K,SCP2:NM_002979:exon10:c.C884A:p.T295K,SCP2:NM_001193600:exon9:c.C752A:p.T251K,SCP2:NM_001007098:exon9:c.C752A:p.T251K,SCP2:NM_001330587:exon10:c.C884A:p.T295K, chr1 53446126 53446126 C A het . 22 +line900 nonsynonymous SNV SLC1A7:NM_001287595:exon11:c.A1787G:p.Q596R,SLC1A7:NM_006671:exon11:c.A1610G:p.Q537R, chr1 53553754 53553754 T C het . 2 +line909 synonymous SNV LRP8:NM_001018054:exon17:c.C2622T:p.D874D,LRP8:NM_033300:exon15:c.C2112T:p.D704D,LRP8:NM_004631:exon17:c.C2622T:p.D874D,LRP8:NM_017522:exon15:c.C2010T:p.D670D, chr1 53716416 53716416 G A het . 15 +line917 stopgain MRPL37:NM_001330602:exon4:c.C779A:p.S260X,MRPL37:NM_016491:exon4:c.C779A:p.S260X, chr1 54675751 54675751 C A het . 14 +line924 stopgain MROH7:NM_001039464:exon24:c.C3860A:p.S1287X,MROH7:NM_001291332:exon22:c.C2414A:p.S805X, chr1 55175748 55175748 C A het . 35 +line925 synonymous SNV TTC22:NM_001114108:exon5:c.A987G:p.E329E,TTC22:NM_017904:exon5:c.A987G:p.E329E, chr1 55251689 55251689 T C het . 10 +line934 nonsynonymous SNV PCSK9:NM_174936:exon2:c.A256C:p.T86P, chr1 55509564 55509564 A C het . 25 +line955 synonymous SNV PRKAA2:NM_006252:exon7:c.C1219A:p.R407R, chr1 57170074 57170074 C A het . 13 +line961 nonframeshift substitution DAB1:NM_021080:exon14:c.1351_1352AA,DAB1:NM_001353986:exon12:c.1345_1346AA,DAB1:NM_001353983:exon12:c.1351_1352AA,DAB1:NM_001353985:exon12:c.1351_1352AA, chr1 57480648 57480649 CC TT het . 5 +line993 nonsynonymous SNV C1orf87:NM_152377:exon3:c.G122T:p.S41I, chr1 60521096 60521096 C A het . 18 +line1000 synonymous SNV NFIA:NM_001145512:exon9:c.G1218A:p.P406P,NFIA:NM_001145511:exon8:c.G1059A:p.P353P,NFIA:NM_005595:exon8:c.G1083A:p.P361P,NFIA:NM_001134673:exon8:c.G1083A:p.P361P, chr1 61869783 61869783 G A het . 14 +line1004 synonymous SNV PATJ:NM_001350145:exon20:c.G2664A:p.L888L,PATJ:NM_176877:exon20:c.G2664A:p.L888L, chr1 62330134 62330134 G A het . 19 +line1010 synonymous SNV L1TD1:NM_019079:exon4:c.C1173T:p.A391A,L1TD1:NM_001164835:exon5:c.C1173T:p.A391A, chr1 62675619 62675619 C T het . 35 +line1011 stopgain L1TD1:NM_019079:exon4:c.C2390A:p.S797X,L1TD1:NM_001164835:exon5:c.C2390A:p.S797X, chr1 62676836 62676836 C A het . 32 +line1016 synonymous SNV DOCK7:NM_001272000:exon36:c.G4548A:p.R1516R,DOCK7:NM_001271999:exon37:c.G4641A:p.R1547R,DOCK7:NM_001272001:exon36:c.G4548A:p.R1516R,DOCK7:NM_001330614:exon37:c.G4641A:p.R1547R,DOCK7:NM_033407:exon36:c.G4575A:p.R1525R, chr1 62970397 62970397 C T het . 14 +line1024 nonsynonymous SNV ITGB3BP:NM_001206739:exon2:c.A28G:p.R10G, chr1 63975830 63975830 T C het . 9 +line1030 nonsynonymous SNV ROR1:NM_005012:exon9:c.C1728A:p.S576R, chr1 64643452 64643452 C A het . 11 +line1122 stopgain FPGT:NM_001199328:exon5:c.C731A:p.S244X,FPGT:NM_003838:exon4:c.C1493A:p.S498X, chr1 74671185 74671185 C A het . 18 +line1125 nonsynonymous SNV ERICH3:NM_001002912:exon14:c.G3169T:p.A1057S, chr1 75038225 75038225 C A het . 24 +line1126 nonsynonymous SNV ERICH3:NM_001002912:exon14:c.T3166G:p.L1056V, chr1 75038228 75038228 A C het . 26 +line1181 nonsynonymous SNV IFI44L:NM_006820:exon2:c.C14A:p.T5K, chr1 79093614 79093614 C A het . 10 +line1222 nonsynonymous SNV TTLL7:NM_024686:exon3:c.A100G:p.K34E,TTLL7:NM_001350214:exon4:c.A100G:p.K34E,TTLL7:NM_001350215:exon2:c.A19G:p.K7E, chr1 84417585 84417585 T C het . 28 +line1226 nonsynonymous SNV DNASE2B:NM_021233:exon2:c.G152A:p.R51K, chr1 84867610 84867610 G A het . 1 +line1231 nonframeshift deletion CTBS:NM_004388:exon1:c.92_100del:p.31_34del, chr1 85039999 85040007 GCAGCGCCA - het . 18 +line1233 synonymous SNV SSX2IP:NM_001166417:exon15:c.A1758G:p.A586A,SSX2IP:NM_001166294:exon13:c.A1677G:p.A559A,SSX2IP:NM_014021:exon15:c.A1758G:p.A586A,SSX2IP:NM_001166293:exon14:c.A1758G:p.A586A,SSX2IP:NM_001166295:exon13:c.A1677G:p.A559A, chr1 85113203 85113203 T C het . 14 +line1234 nonsynonymous SNV SSX2IP:NM_001166417:exon15:c.T1732C:p.C578R,SSX2IP:NM_001166294:exon13:c.T1651C:p.C551R,SSX2IP:NM_014021:exon15:c.T1732C:p.C578R,SSX2IP:NM_001166293:exon14:c.T1732C:p.C578R,SSX2IP:NM_001166295:exon13:c.T1651C:p.C551R, chr1 85113229 85113229 A G het . 19 +line1244 nonsynonymous SNV SYDE2:NM_032184:exon7:c.G3469A:p.V1157I, chr1 85624549 85624549 C T het . 25 +line1265 stopgain CLCA2:NM_006536:exon14:c.C2751A:p.C917X, chr1 86921129 86921129 C A het . 10 +line1269 nonframeshift deletion CLCA4:NM_012128:exon14:c.2629_2634del:p.877_878del, chr1 87045897 87045902 CCTACA - het . 26 +line1290 synonymous SNV KYAT3:NM_001349450:exon9:c.C243T:p.S81S,KYAT3:NM_001349447:exon8:c.C633T:p.S211S,KYAT3:NM_001349449:exon8:c.C243T:p.S81S,KYAT3:NM_001008662:exon7:c.C633T:p.S211S,KYAT3:NM_001349448:exon9:c.C735T:p.S245S,KYAT3:NM_001008661:exon8:c.C735T:p.S245S, chr1 89426902 89426902 G A het . 10 +line1292 frameshift deletion RBMXL1:NM_019610:wholegene,RBMXL1:NM_001162536:wholegene, chr1 89449509 89449510 TT - het . 22 +line1295 synonymous SNV GBP7:NM_207398:exon10:c.C1590A:p.L530L, chr1 89599013 89599013 G T het . 44 +line1296 synonymous SNV GBP7:NM_207398:exon10:c.T1566C:p.S522S, chr1 89599037 89599037 A G het . 48 +line1297 synonymous SNV GBP7:NM_207398:exon10:c.A1533G:p.E511E, chr1 89599070 89599070 T C het . 33 +line1299 nonframeshift substitution GBP4:NM_052941:exon10:c.1651_1652AG, chr1 89652071 89652072 TC CT het . 14 +line1300 nonsynonymous SNV GBP4:NM_052941:exon10:c.T1645A:p.L549M, chr1 89652078 89652078 A T het . 12 +line1305 nonsynonymous SNV LRRC8B:NM_001134476:exon8:c.C2182A:p.Q728K,LRRC8B:NM_015350:exon6:c.C2182A:p.Q728K, chr1 90058372 90058372 C A het . 28 +line1306 nonsynonymous SNV LRRC8C:NM_032270:exon3:c.C674A:p.S225Y, chr1 90178803 90178803 C A het . 17 +line1308 synonymous SNV ZNF326:NM_181781:exon10:c.G897A:p.E299E,ZNF326:NM_182976:exon12:c.G1515A:p.E505E,ZNF326:NM_001320185:exon12:c.G1248A:p.E416E, chr1 90493026 90493026 G A het . 43 +line1314 nonsynonymous SNV ZNF644:NM_201269:exon4:c.G3334T:p.A1112S, chr1 91403396 91403396 C A het . 25 +line1315 nonsynonymous SNV ZNF644:NM_201269:exon4:c.G3299A:p.R1100H, chr1 91403431 91403431 C T het . 30 +line1344 nonsynonymous SNV KIAA1107:NM_015237:exon3:c.C638A:p.S213Y, chr1 92642927 92642927 C A het . 27 +line1347 nonsynonymous SNV GLMN:NM_053274:exon9:c.A949C:p.M317L,GLMN:NM_001319683:exon9:c.A949C:p.M317L, chr1 92735308 92735308 T G het . 32 +line1414 nonsynonymous SNV DPYD:NM_000110:exon8:c.A775G:p.K259E, chr1 98144726 98144726 T C het . 23 +line1440 nonframeshift substitution TRMT13:NM_019083:exon1:c.142_143AT, chr1 100598866 100598867 GC AT het . 20 +line1478 nonsynonymous SNV COL11A1:NM_001854:exon48:c.G3701A:p.G1234E,COL11A1:NM_080629:exon48:c.G3737A:p.G1246E,COL11A1:NM_080630:exon46:c.G3353A:p.G1118E,COL11A1:NM_001190709:exon47:c.G3584A:p.G1195E, chr1 103387081 103387081 C T het . 28 +line1493 synonymous SNV RNPC3:NM_017619:exon3:c.C342T:p.G114G, chr1 104076462 104076462 C T het . 22 +line1537 nonsynonymous SNV GPSM2:NM_001321039:exon11:c.C1256T:p.P419L,GPSM2:NM_013296:exon11:c.C1256T:p.P419L,GPSM2:NM_001321038:exon11:c.C1256T:p.P419L, chr1 109457023 109457023 C T het . 31 +line1544 nonsynonymous SNV KIAA1324:NM_001267048:exon4:c.C586A:p.P196T,KIAA1324:NM_001284352:exon3:c.C280A:p.P94T,KIAA1324:NM_020775:exon4:c.C586A:p.P196T, chr1 109714606 109714606 C A het . 15 +line1546 nonsynonymous SNV KIAA1324:NM_001267048:exon12:c.A1606C:p.T536P,KIAA1324:NM_001284353:exon7:c.A853C:p.T285P,KIAA1324:NM_001284352:exon13:c.A1561C:p.T521P,KIAA1324:NM_020775:exon14:c.A1867C:p.T623P, chr1 109735416 109735416 A C het . 13 +line1550 nonframeshift insertion CELSR2:NM_001408:exon1:c.34_35insCGC:p.T12delinsTP, chr1 109792735 109792735 - CGC het . 10 +line1551 synonymous SNV PSRC1:NM_001005290:exon4:c.G465T:p.G155G,PSRC1:NM_001350242:exon4:c.G465T:p.G155G,PSRC1:NM_001350237:exon3:c.G465T:p.G155G,PSRC1:NM_001350240:exon4:c.G465T:p.G155G,PSRC1:NM_001350239:exon4:c.G465T:p.G155G,PSRC1:NM_001350241:exon4:c.G465T:p.G155G,PSRC1:NM_001363309:exon4:c.G465T:p.G155G,PSRC1:NM_001350238:exon4:c.G465T:p.G155G,PSRC1:NM_032636:exon4:c.G465T:p.G155G,PSRC1:NM_001032291:exon4:c.G465T:p.G155G, chr1 109824295 109824295 C A het . 13 +line1557 synonymous SNV GPR61:NM_031936:exon2:c.C738A:p.P246P, chr1 110086382 110086382 C A het . 12 +line1571 nonsynonymous SNV SLC6A17:NM_001010898:exon10:c.C1511T:p.A504V, chr1 110738226 110738226 C T het . 15 +line1574 nonsynonymous SNV LAMTOR5:NM_006402:exon1:c.C212T:p.P71L, chr1 110950277 110950277 G A het . 25 +line1627 nonsynonymous SNV HIPK1:NM_198269:exon7:c.C662A:p.A221E,HIPK1:NM_198268:exon8:c.C1784A:p.A595E,HIPK1:NM_181358:exon6:c.C602A:p.A201E,HIPK1:NM_152696:exon8:c.C1784A:p.A595E, chr1 114500716 114500716 C A het . 21 +line1637 nonsynonymous SNV DENND2C:NM_198459:exon2:c.G608T:p.C203F,DENND2C:NM_001256404:exon4:c.G608T:p.C203F, chr1 115167998 115167998 C A het . 30 +line1643 nonsynonymous SNV SYCP1:NM_001282541:exon6:c.A446G:p.Q149R,SYCP1:NM_001282542:exon6:c.A446G:p.Q149R,SYCP1:NM_003176:exon6:c.A446G:p.Q149R, chr1 115401322 115401322 A G het . 19 +line1648 synonymous SNV VANGL1:NM_001172412:exon4:c.C330T:p.Y110Y,VANGL1:NM_138959:exon4:c.C330T:p.Y110Y,VANGL1:NM_001172411:exon4:c.C324T:p.Y108Y, chr1 116206407 116206407 C T het . 18 +line1665 nonframeshift insertion IGSF3:NM_001007237:exon10:c.3062_3063insGGA:p.D1021delinsED,IGSF3:NM_001542:exon10:c.3122_3123insGGA:p.D1041delinsED, chr1 117122285 117122285 - TCC het . 13 +line1666 nonsynonymous SNV IGSF3:NM_001007237:exon10:c.C3060G:p.D1020E,IGSF3:NM_001542:exon10:c.C3120G:p.D1040E, chr1 117122288 117122288 G C het . 14 +line1686 synonymous SNV SPAG17:NM_206996:exon30:c.A4296C:p.T1432T, chr1 118554987 118554987 T G het . 14 +line1690 nonsynonymous SNV HAO2:NM_001005783:exon4:c.T278A:p.F93Y,HAO2:NM_016527:exon3:c.T239A:p.F80Y, chr1 119925645 119925645 T A het . 10 +line1693 synonymous SNV ZNF697:NM_001080470:exon3:c.C285T:p.S95S, chr1 120166681 120166681 G A het . 2 +line1699 nonsynonymous SNV ADAM30:NM_021794:exon1:c.G404T:p.G135V, chr1 120438556 120438556 C A het . 20 +line1700 nonsynonymous SNV ADAM30:NM_021794:exon1:c.A133G:p.I45V, chr1 120438827 120438827 T C het . 18 +line1701 nonsynonymous SNV NOTCH2:NM_024408:exon33:c.A6005G:p.N2002S, chr1 120460310 120460310 T C het . 38 +line1705 stopgain NOTCH2:NM_024408:exon18:c.G2941T:p.G981X,NOTCH2:NM_001200001:exon18:c.G2941T:p.G981X, chr1 120484189 120484189 C A het . 26 +line1830 nonsynonymous SNV PDE4DIP:NM_001198832:exon36:c.C5281T:p.R1761C,PDE4DIP:NM_001350521:exon37:c.C6010T:p.R2004C,PDE4DIP:NM_001198834:exon34:c.C5599T:p.R1867C,PDE4DIP:NM_014644:exon34:c.C5599T:p.R1867C,PDE4DIP:NM_001350520:exon30:c.C6085T:p.R2029C,PDE4DIP:NM_001350523:exon36:c.C5278T:p.R1760C,PDE4DIP:NM_001350522:exon37:c.C5797T:p.R1933C, chr1 144866643 144866643 G A het . 18 +line1831 synonymous SNV PDE4DIP:NM_001198832:exon36:c.A5262G:p.E1754E,PDE4DIP:NM_001350521:exon37:c.A5991G:p.E1997E,PDE4DIP:NM_001198834:exon34:c.A5580G:p.E1860E,PDE4DIP:NM_014644:exon34:c.A5580G:p.E1860E,PDE4DIP:NM_001350520:exon30:c.A6066G:p.E2022E,PDE4DIP:NM_001350523:exon36:c.A5259G:p.E1753E,PDE4DIP:NM_001350522:exon37:c.A5778G:p.E1926E, chr1 144866662 144866662 T C het . 23 +line1833 nonsynonymous SNV PDE4DIP:NM_001198832:exon30:c.T4054C:p.W1352R,PDE4DIP:NM_001350521:exon30:c.T4597C:p.W1533R,PDE4DIP:NM_001198834:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_014644:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_001350520:exon23:c.T4672C:p.W1558R,PDE4DIP:NM_001350523:exon30:c.T4051C:p.W1351R,PDE4DIP:NM_001350522:exon30:c.T4384C:p.W1462R, chr1 144879264 144879264 A G het . 40 +line1856 synonymous SNV PDE4DIP:NM_001350521:exon1:c.C9G:p.G3G,PDE4DIP:NM_022359:exon1:c.C9G:p.G3G, chr1 145075854 145075854 G C het . 32 +line1868 nonsynonymous SNV NBPF10:NM_001302371:exon1:c.G64C:p.E22Q,NBPF10:NM_001039703:exon1:c.G64C:p.E22Q, chr1 145293469 145293469 G C het . 71 +line1869 nonsynonymous SNV NBPF10:NM_001302371:exon1:c.G85C:p.A29P,NBPF10:NM_001039703:exon1:c.G85C:p.A29P, chr1 145293490 145293490 G C het . 48 +line1870 nonsynonymous SNV NBPF10:NM_001302371:exon1:c.G93C:p.K31N,NBPF10:NM_001039703:exon1:c.G93C:p.K31N, chr1 145293498 145293498 G C het . 41 +line1871 nonsynonymous SNV NBPF10:NM_001302371:exon29:c.A3718T:p.I1240F,NBPF10:NM_001039703:exon29:c.A3718T:p.I1240F, chr1 145323656 145323656 A T het . 30 +line1872 nonsynonymous SNV NBPF10:NM_001302371:exon29:c.G3730C:p.E1244Q,NBPF10:NM_001039703:exon29:c.G3730C:p.E1244Q, chr1 145323668 145323668 G C het . 40 +line1873 nonsynonymous SNV HJV:NM_001316767:exon4:c.C559A:p.P187T,HJV:NM_145277:exon3:c.C898A:p.P300T,HJV:NM_213652:exon2:c.C559A:p.P187T,HJV:NM_213653:exon4:c.C1237A:p.P413T,HJV:NM_202004:exon3:c.C559A:p.P187T, chr1 145416892 145416892 C A het . 32 +line1876 nonframeshift deletion POLR3GL:NM_001330685:exon6:c.450_452del:p.150_151del,POLR3GL:NM_032305:exon7:c.519_521del:p.173_174del, chr1 145457040 145457042 TCT - het . 35 +line1879 nonsynonymous SNV ANKRD35:NM_144698:exon10:c.C1282T:p.P428S,ANKRD35:NM_001280799:exon8:c.C1012T:p.P338S, chr1 145561594 145561594 C T het . 9 +line1895 frameshift deletion BCL9:NM_004326:exon5:c.292delA:p.K98fs, chr1 147084920 147084920 A - het . 16 +line1923 nonsynonymous SNV ECM1:NM_001202858:exon6:c.C709A:p.L237I,ECM1:NM_004425:exon6:c.C628A:p.L210I,ECM1:NM_022664:exon6:c.C628A:p.L210I, chr1 150483594 150483594 C A het . 18 +line1942 nonsynonymous SNV PI4KB:NM_001330721:exon10:c.G1740T:p.K580N,PI4KB:NM_002651:exon9:c.G1776T:p.K592N,PI4KB:NM_001198773:exon9:c.G1695T:p.K565N,PI4KB:NM_001198774:exon7:c.G1695T:p.K565N,PI4KB:NM_001198775:exon6:c.G744T:p.K248N, chr1 151274329 151274329 C A het . 26 +line1943 stopgain SELENBP1:NM_001258288:exon8:c.G795A:p.W265X,SELENBP1:NM_003944:exon9:c.G981A:p.W327X,SELENBP1:NM_001258289:exon9:c.G1107A:p.W369X, chr1 151338102 151338102 C T het . 23 +line1951 nonsynonymous SNV CGN:NM_020770:exon2:c.C841T:p.R281W, chr1 151491836 151491836 C T het . 7 +line1956 nonframeshift deletion CELF3:NM_001291107:exon10:c.1098_1100del:p.366_367del,CELF3:NM_001172648:exon10:c.960_962del:p.320_321del,CELF3:NM_001291106:exon10:c.1098_1100del:p.366_367del,CELF3:NM_007185:exon10:c.1101_1103del:p.367_368del,CELF3:NM_001172649:exon9:c.951_953del:p.317_318del, chr1 151678723 151678725 TGC - het . 22 +line1958 synonymous SNV TDRKH:NM_001083963:exon10:c.T1332C:p.H444H,TDRKH:NM_006862:exon10:c.T1332C:p.H444H,TDRKH:NM_001083965:exon10:c.T1332C:p.H444H,TDRKH:NM_001083964:exon10:c.T1197C:p.H399H, chr1 151747970 151747970 A G het . 7 +line1959 nonsynonymous SNV LINGO4:NM_001004432:exon2:c.G261T:p.Q87H, chr1 151774920 151774920 C A het . 12 +line1961 nonsynonymous SNV THEM4:NM_053055:exon2:c.G242A:p.R81H, chr1 151867528 151867528 C T het . 16 +line1962 synonymous SNV THEM4:NM_053055:exon2:c.C210T:p.D70D, chr1 151867560 151867560 G A het . 2 +line1967 nonsynonymous SNV TCHH:NM_007113:exon3:c.G2379T:p.Q793H, chr1 152083314 152083314 C A het . 40 +line1968 nonsynonymous SNV TCHH:NM_007113:exon3:c.T2368A:p.L790M, chr1 152083325 152083325 A T het . 40 +line1972 nonsynonymous SNV HRNR:NM_001009931:exon3:c.G2396C:p.S799T, chr1 152191709 152191709 C G het . 9 +line1973 synonymous SNV HRNR:NM_001009931:exon3:c.C984A:p.G328G, chr1 152193121 152193121 G T het . 15 +line1977 nonsynonymous SNV LCE3D:NM_032563:exon2:c.C65T:p.P22L, chr1 152552348 152552348 G A het . 11 +line1978 nonsynonymous SNV LCE2B:NM_014357:exon2:c.T152G:p.I51S, chr1 152659471 152659471 T G het . 19 +line1980 nonsynonymous SNV LCE1E:NM_178353:exon2:c.A175G:p.S59G, chr1 152759950 152759950 A G het . 2 +line1984 nonsynonymous SNV LOR:NM_000427:exon2:c.A85G:p.S29G, chr1 153233510 153233510 A G het . 5 +line1985 nonsynonymous SNV LOR:NM_000427:exon2:c.T586G:p.C196G, chr1 153234011 153234011 T G het . 7 +line1994 nonsynonymous SNV INTS3:NM_023015:exon20:c.C2087A:p.A696D,INTS3:NM_001324475:exon21:c.C2087A:p.A696D, chr1 153737536 153737536 C A het . 10 +line1997 nonsynonymous SNV NUP210L:NM_207308:exon36:c.G5051T:p.G1684V, chr1 153974341 153974341 C A het . 27 +line2005 nonsynonymous SNV C1orf43:NM_015449:exon4:c.G288T:p.K96N,C1orf43:NM_001297718:exon5:c.G285T:p.K95N,C1orf43:NM_001297717:exon4:c.G336T:p.K112N,C1orf43:NM_001297721:exon4:c.G288T:p.K96N,C1orf43:NM_001098616:exon5:c.G390T:p.K130N,C1orf43:NM_001297723:exon5:c.G390T:p.K130N,C1orf43:NM_138740:exon3:c.G234T:p.K78N,C1orf43:NM_001297720:exon4:c.G336T:p.K112N, chr1 154185051 154185051 C A het . 24 +line2013 nonsynonymous SNV AQP10:NM_080429:exon1:c.G44A:p.R15Q, chr1 154293675 154293675 G A het . 3 +line2016 nonsynonymous SNV IL6R:NM_000565:exon9:c.A1073C:p.D358A, chr1 154426970 154426970 A C het . 15 +line2018 nonsynonymous SNV TDRD10:NM_182499:exon9:c.G542A:p.R181Q,TDRD10:NM_001098475:exon9:c.G542A:p.R181Q, chr1 154516477 154516477 G A het . 3 +line2022 nonframeshift deletion KCNN3:NM_001204087:exon9:c.2105_2107del:p.702_703del,KCNN3:NM_170782:exon8:c.1145_1147del:p.382_383del,KCNN3:NM_002249:exon8:c.2060_2062del:p.687_688del, chr1 154680586 154680588 GCT - het . 21 +line2027 synonymous SNV ADAM15:NM_207195:exon19:c.G2277A:p.K759K,ADAM15:NM_001261464:exon19:c.G2307A:p.K769K,ADAM15:NM_207196:exon19:c.G2277A:p.K759K,ADAM15:NM_003815:exon19:c.G2277A:p.K759K,ADAM15:NM_207194:exon19:c.G2277A:p.K759K,ADAM15:NM_207197:exon19:c.G2277A:p.K759K, chr1 155033308 155033308 G A het . 9 +line2030 nonsynonymous SNV FDPS:NM_001135821:exon11:c.C1082A:p.A361D,FDPS:NM_001242825:exon9:c.C569A:p.A190D,FDPS:NM_001242824:exon10:c.C884A:p.A295D,FDPS:NM_002004:exon11:c.C1082A:p.A361D,FDPS:NM_001135822:exon10:c.C884A:p.A295D, chr1 155290222 155290222 C A het . 11 +line2031 synonymous SNV RUSC1:NM_001105205:exon1:c.A66G:p.L22L, chr1 155294274 155294274 A G het . 3 +line2032 synonymous SNV ASH1L:NM_018489:exon27:c.C8508T:p.S2836S, chr1 155308175 155308175 G A het . 5 +line2035 stopgain ASH1L:NM_018489:exon3:c.G1477T:p.E493X, chr1 155451184 155451184 C A het . 33 +line2036 nonsynonymous SNV ASH1L:NM_018489:exon3:c.G1282T:p.A428S, chr1 155451379 155451379 C A het . 23 +line2043 nonsynonymous SNV DAP3:NM_001199849:exon10:c.C842T:p.P281L,DAP3:NM_001199851:exon8:c.C719T:p.P240L,DAP3:NM_001199850:exon8:c.C740T:p.P247L,DAP3:NM_033657:exon9:c.C842T:p.P281L,DAP3:NM_004632:exon9:c.C842T:p.P281L, chr1 155699156 155699156 C T het . 13 +line2045 nonsynonymous SNV GON4L:NM_001282860:exon10:c.C1343G:p.P448R,GON4L:NM_032292:exon10:c.C1343G:p.P448R,GON4L:NM_001282861:exon10:c.C1343G:p.P448R,GON4L:NM_001282856:exon10:c.C1343G:p.P448R,GON4L:NM_001282858:exon10:c.C1343G:p.P448R, chr1 155783534 155783534 G C het . 23 +line2052 nonsynonymous SNV GLMP:NM_001256605:exon3:c.G529T:p.A177S,GLMP:NM_001256604:exon4:c.G787T:p.A263S,GLMP:NM_001256608:exon4:c.G787T:p.A263S,GLMP:NM_144580:exon4:c.G787T:p.A263S,GLMP:NM_001256609:exon4:c.G544T:p.A182S, chr1 156263820 156263820 C A het . 17 +line2056 nonsynonymous SNV RHBG:NM_001256395:exon11:c.A1076G:p.H359R,RHBG:NM_001256396:exon11:c.A1193G:p.H398R,RHBG:NM_020407:exon10:c.A1283G:p.H428R, chr1 156354367 156354367 A G het . 3 +line2064 synonymous SNV NES:NM_006617:exon4:c.C4344T:p.A1448A, chr1 156639636 156639636 G A het . 17 +line2065 nonsynonymous SNV NES:NM_006617:exon4:c.C3302T:p.P1101L, chr1 156640678 156640678 G A het . 11 +line2067 nonsynonymous SNV RRNAD1:NM_015997:exon6:c.C913A:p.L305M, chr1 156704077 156704077 C A het . 11 +line2080 nonsynonymous SNV FCRL3:NM_001320333:exon6:c.G722T:p.R241M,FCRL3:NM_052939:exon6:c.G722T:p.R241M, chr1 157667052 157667052 C A het . 4 +line2089 nonsynonymous SNV CD1D:NM_001766:exon3:c.C294A:p.D98E,CD1D:NM_001319145:exon3:c.C294A:p.D98E, chr1 158151477 158151477 C A het . 25 +line2094 synonymous SNV CD1C:NM_001765:exon4:c.C633A:p.S211S, chr1 158262408 158262408 C A het . 13 +line2095 nonsynonymous SNV OR10T2:NM_001004475:exon1:c.T716C:p.V239A, chr1 158368541 158368541 A G het . 9 +line2096 nonsynonymous SNV OR6Y1:NM_001005189:exon1:c.A428G:p.N143S, chr1 158517468 158517468 T C het . 13 +line2097 nonsynonymous SNV OR6P1:NM_001160325:exon1:c.C781T:p.R261W, chr1 158532614 158532614 G A het . 10 +line2098 nonsynonymous SNV OR10Z1:NM_001004478:exon1:c.C418T:p.L140F, chr1 158576646 158576646 C T het . 11 +line2099 nonsynonymous SNV OR10Z1:NM_001004478:exon1:c.C751T:p.H251Y, chr1 158576979 158576979 C T het . 4 +line2104 synonymous SNV SPTA1:NM_003126:exon7:c.T942A:p.A314A, chr1 158647495 158647495 A T het . 24 +line2110 nonsynonymous SNV OR6N1:NM_001005185:exon1:c.G878A:p.R293H, chr1 158735595 158735595 C T het . 2 +line2111 nonsynonymous SNV OR6N2:NM_001005278:exon1:c.G517A:p.E173K, chr1 158746909 158746909 C T het . 18 +line2119 synonymous SNV IGSF9:NM_001135050:exon7:c.A675C:p.G225G,IGSF9:NM_020789:exon7:c.A675C:p.G225G, chr1 159904611 159904611 T G het . 9 +line2128 nonsynonymous SNV ATP1A4:NM_144699:exon3:c.G248A:p.G83D, chr1 160124875 160124875 G A het . 6 +line2129 synonymous SNV ATP1A4:NM_144699:exon3:c.A270C:p.P90P, chr1 160124897 160124897 A C het . 10 +line2135 nonsynonymous SNV NCSTN:NM_001290186:exon11:c.C1193A:p.S398Y,NCSTN:NM_015331:exon14:c.C1607A:p.S536Y,NCSTN:NM_001290184:exon15:c.C1547A:p.S516Y,NCSTN:NM_001349729:exon14:c.C1607A:p.S536Y, chr1 160326105 160326105 C A het . 31 +line2150 nonsynonymous SNV TSTD1:NM_001113206:exon3:c.A214G:p.K72E,TSTD1:NM_001113207:exon4:c.A337G:p.K113E, chr1 161007576 161007576 T C het . 14 +line2152 synonymous SNV ARHGAP30:NM_001025598:exon12:c.G2919C:p.G973G,ARHGAP30:NM_001287600:exon11:c.G2475C:p.G825G,ARHGAP30:NM_001287602:exon8:c.G2388C:p.G796G,ARHGAP30:NM_181720:exon13:c.G2286C:p.G762G, chr1 161017892 161017892 C G het . 12 +line2169 nonsynonymous SNV C1orf226:NM_001085375:exon2:c.C725A:p.A242D,C1orf226:NM_001135240:exon3:c.C854A:p.A285D, chr1 162353379 162353379 C A het . 16 +line2222 synonymous SNV ADCY10:NM_001297772:exon17:c.A1821G:p.A607A,ADCY10:NM_001167749:exon14:c.A1638G:p.A546A,ADCY10:NM_018417:exon17:c.A2097G:p.A699A, chr1 167825477 167825477 T C het . 15 +line2223 nonsynonymous SNV ADCY10:NM_001297772:exon17:c.A1813G:p.I605V,ADCY10:NM_001167749:exon14:c.A1630G:p.I544V,ADCY10:NM_018417:exon17:c.A2089G:p.I697V, chr1 167825485 167825485 T C het . 16 +line2225 synonymous SNV MPC2:NM_015415:exon3:c.C126T:p.F42F,MPC2:NM_001143674:exon3:c.C126T:p.F42F, chr1 167893759 167893759 G A het . 11 +line2233 nonsynonymous SNV BLZF1:NM_003666:exon3:c.C86A:p.P29Q,BLZF1:NM_001320973:exon3:c.C86A:p.P29Q,BLZF1:NM_001320972:exon3:c.C86A:p.P29Q, chr1 169345835 169345835 C A het . 16 +line2234 stopgain CCDC181:NM_001300969:exon4:c.G1087T:p.E363X,CCDC181:NM_001300968:exon5:c.G1087T:p.E363X,CCDC181:NM_021179:exon4:c.G1087T:p.E363X, chr1 169388379 169388379 C A het . 17 +line2235 nonsynonymous SNV CCDC181:NM_001300969:exon3:c.G363T:p.E121D,CCDC181:NM_001300968:exon4:c.G363T:p.E121D,CCDC181:NM_021179:exon3:c.G363T:p.E121D, chr1 169391306 169391306 C A het . 28 +line2236 stopgain F5:NM_000130:exon23:c.G6217T:p.E2073X, chr1 169487778 169487778 C A het . 40 +line2238 nonsynonymous SNV SELP:NM_003005:exon7:c.G997A:p.G333R, chr1 169580880 169580880 C T het . 6 +line2239 nonsynonymous SNV SELP:NM_003005:exon7:c.G992A:p.S331N, chr1 169580885 169580885 C T het . 6 +line2259 nonsynonymous SNV FMO1:NM_002021:exon7:c.G841A:p.E281K,FMO1:NM_001282693:exon7:c.G841A:p.E281K,FMO1:NM_001282694:exon6:c.G652A:p.E218K,FMO1:NM_001282692:exon6:c.G853A:p.E285K, chr1 171251130 171251130 G A het . 14 +line2266 nonsynonymous SNV PRRC2C:NM_015172:exon15:c.T2425G:p.S809A, chr1 171506539 171506539 T G het . 23 +line2268 synonymous SNV PRRC2C:NM_015172:exon19:c.G5313A:p.P1771P, chr1 171526570 171526570 G A het . 15 +line2269 nonsynonymous SNV PRRC2C:NM_015172:exon19:c.G5653A:p.A1885T, chr1 171526910 171526910 G A het . 11 +line2298 nonsynonymous SNV TNN:NM_022093:exon8:c.G1726A:p.V576I, chr1 175066690 175066690 G A het . 14 +line2300 nonsynonymous SNV TNN:NM_022093:exon11:c.T2419C:p.W807R, chr1 175087729 175087729 T C het . 2 +line2302 nonframeshift insertion KIAA0040:NM_001319231:exon5:c.225_226insAAG:p.D76delinsKD,KIAA0040:NM_001319230:exon3:c.225_226insAAG:p.D76delinsKD,KIAA0040:NM_001162895:exon3:c.225_226insAAG:p.D76delinsKD,KIAA0040:NM_001162894:exon4:c.225_226insAAG:p.D76delinsKD,KIAA0040:NM_001162893:exon5:c.225_226insAAG:p.D76delinsKD,KIAA0040:NM_014656:exon4:c.225_226insAAG:p.D76delinsKD, chr1 175129924 175129924 - CTT het . 23 +line2303 frameshift deletion KIAA0040:NM_001319231:exon5:c.204delG:p.K68fs,KIAA0040:NM_001319230:exon3:c.204delG:p.K68fs,KIAA0040:NM_001162895:exon3:c.204delG:p.K68fs,KIAA0040:NM_001162894:exon4:c.204delG:p.K68fs,KIAA0040:NM_001162893:exon5:c.204delG:p.K68fs,KIAA0040:NM_014656:exon4:c.204delG:p.K68fs, chr1 175129946 175129946 C - het . 29 +line2304 frameshift deletion KIAA0040:NM_001319231:exon5:c.195_202del:p.N65fs,KIAA0040:NM_001319230:exon3:c.195_202del:p.N65fs,KIAA0040:NM_001162895:exon3:c.195_202del:p.N65fs,KIAA0040:NM_001162894:exon4:c.195_202del:p.N65fs,KIAA0040:NM_001162893:exon5:c.195_202del:p.N65fs,KIAA0040:NM_014656:exon4:c.195_202del:p.N65fs, chr1 175129948 175129955 TCTTCTTG - het . 32 +line2313 nonsynonymous SNV COP1:NM_001286644:exon10:c.G672T:p.E224D,COP1:NM_001001740:exon11:c.G1320T:p.E440D,COP1:NM_022457:exon12:c.G1392T:p.E464D, chr1 176015346 176015346 C A het . 15 +line2317 synonymous SNV PAPPA2:NM_021936:exon2:c.G690A:p.R230R,PAPPA2:NM_020318:exon2:c.G690A:p.R230R, chr1 176526148 176526148 G A het . 23 +line2323 nonsynonymous SNV BRINP2:NM_021165:exon2:c.C190T:p.P64S, chr1 177199202 177199202 C T het . 9 +line2327 nonsynonymous SNV RASAL2:NM_170692:exon8:c.C1068A:p.D356E,RASAL2:NM_004841:exon6:c.C624A:p.D208E, chr1 178411950 178411950 C A het . 35 +line2328 nonsynonymous SNV TEX35:NM_032126:exon3:c.C124T:p.R42W,TEX35:NM_001170724:exon3:c.C124T:p.R42W,TEX35:NM_001170722:exon3:c.C148T:p.R50W,TEX35:NM_001170723:exon3:c.C124T:p.R42W, chr1 178483868 178483868 C T het . 15 +line2329 nonsynonymous SNV TEX35:NM_032126:exon7:c.C458A:p.P153H,TEX35:NM_001170724:exon7:c.C458A:p.P153H,TEX35:NM_001170722:exon7:c.C482A:p.P161H,TEX35:NM_001170723:exon7:c.C458A:p.P153H, chr1 178489924 178489924 C A het . 18 +line2351 nonsynonymous SNV AXDND1:NM_144696:exon25:c.C2846A:p.A949E, chr1 179503912 179503912 C A het . 26 +line2352 nonframeshift deletion AXDND1:NM_144696:exon25:c.2960_2962del:p.987_988del, chr1 179504026 179504028 AAG - het . 35 +line2353 nonsynonymous SNV AXDND1:NM_144696:exon25:c.C2977G:p.Q993E, chr1 179504043 179504043 C G het . 41 +line2364 nonsynonymous SNV CEP350:NM_014810:exon6:c.C874A:p.Q292K, chr1 179966166 179966166 C A het . 28 +line2374 nonsynonymous SNV KIAA1614:NM_020950:exon8:c.A3232G:p.N1078D, chr1 180913597 180913597 A G het . 13 +line2379 synonymous SNV IER5:NM_016545:exon1:c.G153T:p.P51P, chr1 181058191 181058191 G T het . 14 +line2380 nonsynonymous SNV IER5:NM_016545:exon1:c.C580G:p.R194G, chr1 181058618 181058618 C G het . 7 +line2381 nonsynonymous SNV IER5:NM_016545:exon1:c.A605G:p.Q202R, chr1 181058643 181058643 A G het . 5 +line2414 nonsynonymous SNV SMG7:NM_001350219:exon6:c.C278A:p.A93D,SMG7:NM_001350221:exon6:c.C278A:p.A93D,SMG7:NM_001331007:exon5:c.C278A:p.A93D,SMG7:NM_001174061:exon3:c.C65A:p.A22D,SMG7:NM_001350220:exon6:c.C278A:p.A93D,SMG7:NM_201569:exon4:c.C191A:p.A64D,SMG7:NM_201568:exon4:c.C191A:p.A64D,SMG7:NM_173156:exon4:c.C191A:p.A64D, chr1 183486834 183486834 C A het . 17 +line2415 synonymous SNV SMG7:NM_001350219:exon6:c.G303A:p.L101L,SMG7:NM_001350221:exon6:c.G303A:p.L101L,SMG7:NM_001331007:exon5:c.G303A:p.L101L,SMG7:NM_001174061:exon3:c.G90A:p.L30L,SMG7:NM_001350220:exon6:c.G303A:p.L101L,SMG7:NM_201569:exon4:c.G216A:p.L72L,SMG7:NM_201568:exon4:c.G216A:p.L72L,SMG7:NM_173156:exon4:c.G216A:p.L72L, chr1 183486859 183486859 G A het . 21 +line2426 synonymous SNV EDEM3:NM_001319960:exon18:c.C2166T:p.N722N,EDEM3:NM_025191:exon18:c.C2166T:p.N722N, chr1 184675814 184675814 G A het . 6 +line2429 nonsynonymous SNV TRMT1L:NM_030934:exon10:c.G1495T:p.D499Y,TRMT1L:NM_001202423:exon10:c.G1027T:p.D343Y, chr1 185106756 185106756 C A het . 15 +line2432 nonsynonymous SNV SWT1:NM_017673:exon5:c.C680A:p.S227Y,SWT1:NM_001105518:exon5:c.C680A:p.S227Y, chr1 185143959 185143959 C A het . 37 +line2437 synonymous SNV HMCN1:NM_031935:exon46:c.A7266G:p.K2422K, chr1 186026487 186026487 A G het . 34 +line2441 stopgain TPR:NM_003292:exon40:c.G5878T:p.G1960X, chr1 186296603 186296603 C A het . 25 +line2442 nonsynonymous SNV TPR:NM_003292:exon40:c.G5863T:p.D1955Y, chr1 186296618 186296618 C A het . 30 +line2477 nonsynonymous SNV RGS21:NM_001039152:exon5:c.T289A:p.S97T, chr1 192335084 192335084 T A het . 32 +line2503 nonsynonymous SNV CFHR2:NM_005666:exon2:c.C212T:p.T71M, chr1 196918738 196918738 C T het . 30 +line2555 nonsynonymous SNV ZNF281:NM_012482:exon2:c.G1608T:p.Q536H,ZNF281:NM_001281294:exon3:c.G1500T:p.Q500H,ZNF281:NM_001281293:exon2:c.G1608T:p.Q536H, chr1 200377226 200377226 C A het . 17 +line2559 nonsynonymous SNV KIF14:NM_014875:exon2:c.G988A:p.A330T, chr1 200586864 200586864 C T het . 35 +line2568 nonsynonymous SNV CACNA1S:NM_000069:exon41:c.C5119T:p.P1707S, chr1 201010647 201010647 G A het . 28 +line2569 nonsynonymous SNV CACNA1S:NM_000069:exon11:c.C1476A:p.F492L, chr1 201047150 201047150 G T het . 16 +line2578 nonsynonymous SNV TNNT2:NM_001276346:exon15:c.G729T:p.K243N,TNNT2:NM_001276347:exon16:c.G828T:p.K276N,TNNT2:NM_001001432:exon14:c.G810T:p.K270N,TNNT2:NM_001001430:exon16:c.G828T:p.K276N,TNNT2:NM_001001431:exon15:c.G819T:p.K273N,TNNT2:NM_001276345:exon17:c.G858T:p.K286N,TNNT2:NM_000364:exon16:c.G849T:p.K283N, chr1 201328377 201328377 C A het . 31 +line2592 stopgain LMOD1:NM_012134:exon2:c.G874T:p.E292X, chr1 201869267 201869267 C A het . 40 +line2593 nonsynonymous SNV LMOD1:NM_012134:exon2:c.G424T:p.G142C, chr1 201869717 201869717 C A het . 24 +line2600 nonsynonymous SNV GPR37L1:NM_004767:exon1:c.G269A:p.G90D, chr1 202092360 202092360 G A het . 5 +line2603 synonymous SNV LGR6:NM_001017404:exon16:c.T1965C:p.F655F,LGR6:NM_001017403:exon18:c.T2382C:p.F794F,LGR6:NM_021636:exon18:c.T2226C:p.F742F, chr1 202287813 202287813 T C het . 12 +line2631 nonsynonymous SNV PPP1R15B:NM_032833:exon1:c.G1185T:p.E395D, chr1 204379355 204379355 C A het . 15 +line2632 nonsynonymous SNV PIK3C2B:NM_002646:exon7:c.G1325T:p.G442V, chr1 204429775 204429775 C A het . 13 +line2661 nonsynonymous SNV PM20D1:NM_152491:exon11:c.T1139C:p.I380T, chr1 205801872 205801872 A G het . 3 +line2664 synonymous SNV IKBKE:NM_014002:exon8:c.G717A:p.T239T,IKBKE:NM_001193321:exon7:c.G462A:p.T154T,IKBKE:NM_001193322:exon8:c.G717A:p.T239T, chr1 206651107 206651107 G A het . 6 +line2665 synonymous SNV IKBKE:NM_014002:exon8:c.G753A:p.R251R,IKBKE:NM_001193321:exon7:c.G498A:p.R166R,IKBKE:NM_001193322:exon8:c.G753A:p.R251R, chr1 206651143 206651143 G A het . 8 +line2672 nonsynonymous SNV DYRK3:NM_001004023:exon4:c.C1135A:p.L379I,DYRK3:NM_003582:exon3:c.C1195A:p.L399I, chr1 206821738 206821738 C A het . 11 +line2676 nonsynonymous SNV IL10:NM_000572:exon1:c.G89T:p.C30F, chr1 206945692 206945692 C A het . 24 +line2682 synonymous SNV C4BPA:NM_000715:exon6:c.T675C:p.G225G, chr1 207297680 207297680 T C het . 10 +line2684 synonymous SNV CD55:NM_001300902:exon10:c.C1215T:p.H405H, chr1 207513869 207513869 C T het . 22 +line2690 nonframeshift substitution CD46:NM_153826:exon6:c.783_784AA,CD46:NM_172352:exon6:c.783_784AA,CD46:NM_172357:exon6:c.783_784AA,CD46:NM_172355:exon6:c.783_784AA,CD46:NM_172351:exon6:c.783_784AA,CD46:NM_172350:exon6:c.783_784AA,CD46:NM_172356:exon6:c.783_784AA,CD46:NM_002389:exon6:c.783_784AA,CD46:NM_172361:exon6:c.783_784AA,CD46:NM_172358:exon6:c.783_784AA,CD46:NM_172353:exon6:c.783_784AA,CD46:NM_172359:exon6:c.783_784AA, chr1 207940467 207940468 CC AA het . 44 +line2739 nonsynonymous SNV LPGAT1:NM_001320808:exon2:c.C157T:p.R53W,LPGAT1:NM_014873:exon2:c.C157T:p.R53W, chr1 212002482 212002482 G A het . 30 +line2764 synonymous SNV PTPN14:NM_005401:exon17:c.A3252G:p.E1084E, chr1 214542819 214542819 T C het . 11 +line2778 synonymous SNV CENPF:NM_016343:exon12:c.C2844A:p.S948S, chr1 214814525 214814525 C A het . 20 +line2779 nonsynonymous SNV CENPF:NM_016343:exon12:c.C3451A:p.Q1151K, chr1 214815132 214815132 C A het . 10 +line2780 synonymous SNV CENPF:NM_016343:exon13:c.C5757A:p.L1919L, chr1 214818670 214818670 C A het . 30 +line2789 nonsynonymous SNV USH2A:NM_206933:exon59:c.C11504T:p.T3835I, chr1 215916563 215916563 G A het . 21 +line2790 nonsynonymous SNV USH2A:NM_206933:exon59:c.G11404A:p.E3802K, chr1 215916663 215916663 C T het . 15 +line2791 nonsynonymous SNV USH2A:NM_206933:exon45:c.G8872A:p.E2958K, chr1 216019349 216019349 C T het . 36 +line2817 nonsynonymous SNV LYPLAL1:NM_001300769:exon3:c.T202C:p.F68L, chr1 219383867 219383867 T C het . 11 +line2836 nonsynonymous SNV RAB3GAP2:NM_012414:exon9:c.G754T:p.A252S, chr1 220375675 220375675 C A het . 33 +line2845 nonsynonymous SNV MARC1:NM_022746:exon3:c.A493G:p.T165A, chr1 220970028 220970028 A G het . 6 +line2855 nonsynonymous SNV TAF1A:NM_001201536:exon11:c.G1273T:p.D425Y,TAF1A:NM_005681:exon11:c.G1273T:p.D425Y,TAF1A:NM_139352:exon10:c.G931T:p.D311Y, chr1 222732082 222732082 C A het . 26 +line2859 nonsynonymous SNV MIA3:NM_198551:exon4:c.C1349T:p.P450L,MIA3:NM_001324062:exon4:c.C1349T:p.P450L,MIA3:NM_001324064:exon5:c.C857T:p.P286L,MIA3:NM_001324063:exon4:c.C1349T:p.P450L, chr1 222801911 222801911 C T het . 20 +line2861 synonymous SNV FAM177B:NM_207468:exon3:c.C78A:p.I26I,FAM177B:NM_001324080:exon2:c.C78A:p.I26I, chr1 222919965 222919965 C A het . 15 +line2867 nonsynonymous SNV SUSD4:NM_017982:exon3:c.A268G:p.K90E,SUSD4:NM_001037175:exon3:c.A268G:p.K90E, chr1 223465874 223465874 T C het . 36 +line2868 nonsynonymous SNV CCDC185:NM_152610:exon1:c.G1237A:p.V413M, chr1 223568054 223568054 G A het . 10 +line2875 nonsynonymous SNV CAPN2:NM_001748:exon1:c.C5A:p.A2E, chr1 223900347 223900347 C A het . 14 +line2906 nonsynonymous SNV DNAH14:NM_001373:exon27:c.T4174G:p.Y1392D, chr1 225328440 225328440 T G het . 16 +line2907 frameshift deletion DNAH14:NM_001373:exon37:c.5769_5772del:p.T1923fs, chr1 225380562 225380565 AAAG - het . 23 +line2911 nonsynonymous SNV DNAH14:NM_001373:exon68:c.G10705A:p.E3569K, chr1 225533969 225533969 G A het . 19 +line2926 synonymous SNV PYCR2:NM_013328:exon7:c.G918A:p.G306G,PYCR2:NM_001271681:exon6:c.G696A:p.G232G, chr1 226108200 226108200 C T het . 2 +line2937 nonsynonymous SNV PSEN2:NM_012486:exon8:c.C721A:p.L241I,PSEN2:NM_000447:exon8:c.C721A:p.L241I, chr1 227076684 227076684 C A het . 18 +line2951 nonsynonymous SNV JMJD4:NM_023007:exon6:c.C1382T:p.A461V,JMJD4:NM_001161465:exon6:c.C1334T:p.A445V, chr1 227920103 227920103 G A het . 6 +line2953 nonsynonymous SNV PRSS38:NM_183062:exon2:c.C197T:p.A66V, chr1 228003839 228003839 C T het . 12 +line2957 nonsynonymous SNV C1orf35:NM_024319:exon8:c.G728A:p.R243Q, chr1 228288896 228288896 C T het . 17 +line2960 nonframeshift substitution OBSCN:NM_052843:exon9:c.2721_2722CA,OBSCN:NM_001271223:exon10:c.2997_2998CA,OBSCN:NM_001098623:exon9:c.2721_2722CA, chr1 228412227 228412228 TG CA het . 12 +line2974 synonymous SNV TAF5L:NM_001025247:exon4:c.C678T:p.P226P,TAF5L:NM_014409:exon4:c.C678T:p.P226P, chr1 229738236 229738236 G A het . 5 +line3006 nonsynonymous SNV SIPA1L2:NM_020808:exon13:c.C3902T:p.A1301V, chr1 232574983 232574983 G A het . 9 +line3007 synonymous SNV SIPA1L2:NM_020808:exon1:c.G219A:p.K73K, chr1 232650867 232650867 C T het . 15 +line3008 synonymous SNV SIPA1L2:NM_020808:exon1:c.G192A:p.P64P, chr1 232650894 232650894 C T het . 12 +line3011 nonsynonymous SNV MAP10:NM_019090:exon1:c.C2098A:p.P700T, chr1 232942867 232942867 C A het . 19 +line3018 nonsynonymous SNV PCNX2:NM_014801:exon11:c.G2636T:p.S879I, chr1 233353799 233353799 C A het . 17 +line3023 stopgain MAP3K21:NM_032435:exon10:c.C3048A:p.C1016X, chr1 233518394 233518394 C A het . 5 +line3033 synonymous SNV SLC35F3:NM_173508:exon3:c.C468A:p.A156A,SLC35F3:NM_001300845:exon2:c.C261A:p.A87A, chr1 234367347 234367347 C A het . 30 +line3046 nonsynonymous SNV IRF2BP2:NM_182972:exon1:c.T232C:p.S78P,IRF2BP2:NM_001077397:exon1:c.T232C:p.S78P, chr1 234745009 234745009 A G het . 5 +line3052 nonsynonymous SNV ARID4B:NM_031371:exon19:c.G2278T:p.A760S,ARID4B:NM_016374:exon20:c.G2536T:p.A846S,ARID4B:NM_001206794:exon20:c.G2536T:p.A846S, chr1 235345698 235345698 C A het . 23 +line3058 synonymous SNV GNG4:NM_001098722:exon4:c.T114C:p.A38A,GNG4:NM_001098721:exon4:c.T114C:p.A38A,GNG4:NM_004485:exon3:c.T114C:p.A38A, chr1 235715523 235715523 A G het . 8 +line3082 nonframeshift substitution LGALS8:NM_006499:exon5:c.165_166TG,LGALS8:NM_201545:exon5:c.165_166TG,LGALS8:NM_201543:exon5:c.165_166TG,LGALS8:NM_201544:exon4:c.165_166TG, chr1 236702209 236702210 CA TG het . 34 +line3098 synonymous SNV HEATR1:NM_018072:exon18:c.G2295A:p.V765V, chr1 236746443 236746443 C T het . 8 +line3109 nonsynonymous SNV ACTN2:NM_001278343:exon20:c.C2480A:p.T827N,ACTN2:NM_001103:exon20:c.C2480A:p.T827N,ACTN2:NM_001278344:exon22:c.C1856A:p.T619N, chr1 236924427 236924427 C A het . 40 +line3112 synonymous SNV MTR:NM_001291939:exon9:c.C858T:p.P286P,MTR:NM_000254:exon9:c.C858T:p.P286P, chr1 236987512 236987512 C T het . 21 +line3117 synonymous SNV MTR:NM_001291940:exon30:c.C2355T:p.L785L,MTR:NM_001291939:exon30:c.C3423T:p.L1141L,MTR:NM_000254:exon31:c.C3576T:p.L1192L, chr1 237058828 237058828 C T het . 7 +line3136 nonsynonymous SNV RYR2:NM_001035:exon37:c.C5166A:p.N1722K, chr1 237777594 237777594 C A het . 16 +line3143 nonsynonymous SNV ZP4:NM_021186:exon3:c.A350G:p.H117R, chr1 238053217 238053217 T C het . 18 +line3177 nonsynonymous SNV EXO1:NM_001319224:exon8:c.C890A:p.P297H,EXO1:NM_130398:exon9:c.C890A:p.P297H,EXO1:NM_003686:exon7:c.C890A:p.P297H,EXO1:NM_006027:exon7:c.C890A:p.P297H, chr1 242023952 242023952 C A het . 31 +line3178 nonsynonymous SNV EXO1:NM_001319224:exon8:c.C919A:p.P307T,EXO1:NM_130398:exon9:c.C919A:p.P307T,EXO1:NM_003686:exon7:c.C919A:p.P307T,EXO1:NM_006027:exon7:c.C919A:p.P307T, chr1 242023981 242023981 C A het . 29 +line3203 nonsynonymous SNV SDCCAG8:NM_001350249:exon5:c.C221T:p.T74I,SDCCAG8:NM_006642:exon5:c.C515T:p.T172I,SDCCAG8:NM_001350248:exon5:c.C515T:p.T172I, chr1 243449668 243449668 C T het . 38 +line3220 synonymous SNV HNRNPU:NM_004501:exon1:c.G261A:p.E87E,HNRNPU:NM_031844:exon1:c.G261A:p.E87E, chr1 245027349 245027349 C T het . 21 +line3237 nonsynonymous SNV CNST:NM_152609:exon2:c.C159A:p.S53R,CNST:NM_001139459:exon2:c.C159A:p.S53R, chr1 246755023 246755023 C A het . 16 +line3240 nonsynonymous SNV AHCTF1:NM_001323342:exon34:c.A6509G:p.K2170R,AHCTF1:NM_001323343:exon34:c.A6509G:p.K2170R,AHCTF1:NM_015446:exon34:c.A6536G:p.K2179R, chr1 247007113 247007113 T C het . 8 +line3241 nonsynonymous SNV AHCTF1:NM_001323342:exon33:c.A5021G:p.D1674G,AHCTF1:NM_001323343:exon33:c.A5021G:p.D1674G,AHCTF1:NM_015446:exon33:c.A5048G:p.D1683G, chr1 247014287 247014287 T C het . 30 +line3251 nonsynonymous SNV OR2W5:NM_001004698:exon1:c.C604A:p.P202T, chr1 247655033 247655033 C A het . 18 +line3253 nonsynonymous SNV OR2G2:NM_001001915:exon1:c.G5A:p.G2E, chr1 247751666 247751666 G A het . 10 +line3258 synonymous SNV OR6F1:NM_001005286:exon1:c.C663T:p.I221I, chr1 247875395 247875395 G A het . 15 +line3259 nonsynonymous SNV OR6F1:NM_001005286:exon1:c.T643C:p.F215L, chr1 247875415 247875415 A G het . 17 +line3260 nonframeshift deletion OR14A16:NM_001001966:exon1:c.488_490del:p.163_164del, chr1 247978542 247978544 AGG - het . 14 +line3266 nonsynonymous SNV OR2AK2:NM_001004491:exon1:c.A4G:p.N2D, chr1 248128637 248128637 A G het . 12 +line3267 nonsynonymous SNV OR2L3:NM_001004687:exon1:c.C233T:p.P78L, chr1 248224216 248224216 C T het . 19 +line3268 nonsynonymous SNV OR2L3:NM_001004687:exon1:c.T244C:p.S82P, chr1 248224227 248224227 T C het . 24 +line3273 nonsynonymous SNV OR14C36:NM_001001918:exon1:c.G374A:p.C125Y, chr1 248512450 248512450 G A het . 12 +line3291 nonsynonymous SNV TPO:NM_175722:exon6:c.C743A:p.T248N,TPO:NM_175721:exon6:c.C743A:p.T248N,TPO:NM_001206745:exon7:c.C743A:p.T248N,TPO:NM_001206744:exon7:c.C743A:p.T248N,TPO:NM_000547:exon7:c.C743A:p.T248N,TPO:NM_175719:exon7:c.C743A:p.T248N, chr2 1459978 1459978 C A het . 36 +line3312 synonymous SNV COLEC11:NM_001255987:exon5:c.C282T:p.A94A,COLEC11:NM_001255986:exon6:c.C354T:p.A118A,COLEC11:NM_001255989:exon4:c.C210T:p.A70A,COLEC11:NM_001255982:exon6:c.C360T:p.A120A,COLEC11:NM_001255984:exon5:c.C288T:p.A96A,COLEC11:NM_024027:exon7:c.C432T:p.A144A,COLEC11:NM_001255988:exon5:c.C282T:p.A94A,COLEC11:NM_001255985:exon8:c.C474T:p.A158A,COLEC11:NM_001255983:exon6:c.C360T:p.A120A,COLEC11:NM_199235:exon8:c.C423T:p.A141A, chr2 3691324 3691324 C T het . 25 +line3366 nonsynonymous SNV ASAP2:NM_001135191:exon2:c.C128A:p.A43D,ASAP2:NM_003887:exon2:c.C128A:p.A43D, chr2 9419447 9419447 C A het . 13 +line3408 nonsynonymous SNV GREB1:NM_014668:exon15:c.C2167A:p.L723I, chr2 11738820 11738820 C A het . 11 +line3410 synonymous SNV GREB1:NM_014668:exon33:c.C5706A:p.I1902I, chr2 11780436 11780436 C A het . 8 +line3483 synonymous SNV SDC1:NM_002997:exon3:c.G282A:p.P94P,SDC1:NM_001006946:exon4:c.G282A:p.P94P, chr2 20403919 20403919 C T het . 10 +line3487 nonsynonymous SNV HS1BP3:NM_022460:exon7:c.G1162A:p.A388T, chr2 20818764 20818764 C T het . 4 +line3492 nonsynonymous SNV APOB:NM_000384:exon14:c.G1957T:p.A653S, chr2 21250810 21250810 C A het . 41 +line3493 nonframeshift deletion APOB:NM_000384:exon1:c.35_43del:p.12_15del, chr2 21266775 21266783 GCAGCGCCA - het . 9 +line3512 synonymous SNV SF3B6:NM_016047:exon3:c.C156T:p.N52N, chr2 24291323 24291323 G A het . 14 +line3514 nonsynonymous SNV FAM228A:NM_001040710:exon2:c.A10T:p.T4S, chr2 24398359 24398359 A T het . 28 +line3526 nonsynonymous SNV ASXL2:NM_018263:exon12:c.G3077T:p.S1026I, chr2 25966129 25966129 C A het . 24 +line3532 synonymous SNV HADHA:NM_000182:exon19:c.G2121T:p.G707G, chr2 26414377 26414377 C A het . 30 +line3535 nonframeshift insertion HADHB:NM_000183:exon2:c.3_4insACT:p.M1delinsMT,HADHB:NM_001281512:exon2:c.3_4insACT:p.M1delinsMT, chr2 26477125 26477125 - ACT het . 43 +line3538 nonsynonymous SNV ADGRF3:NM_001321975:exon11:c.G544T:p.A182S,ADGRF3:NM_153835:exon8:c.G1138T:p.A380S,ADGRF3:NM_001145169:exon10:c.G1528T:p.A510S,ADGRF3:NM_001145168:exon11:c.G1735T:p.A579S,ADGRF3:NM_001321971:exon10:c.G1531T:p.A511S, chr2 26534861 26534861 C A het . 11 +line3539 synonymous SNV ADGRF3:NM_001321975:exon11:c.C504A:p.T168T,ADGRF3:NM_153835:exon8:c.C1098A:p.T366T,ADGRF3:NM_001145169:exon10:c.C1488A:p.T496T,ADGRF3:NM_001145168:exon11:c.C1695A:p.T565T,ADGRF3:NM_001321971:exon10:c.C1491A:p.T497T, chr2 26534901 26534901 G T het . 5 +line3540 nonsynonymous SNV ADGRF3:NM_001321975:exon11:c.C483A:p.D161E,ADGRF3:NM_153835:exon8:c.C1077A:p.D359E,ADGRF3:NM_001145169:exon10:c.C1467A:p.D489E,ADGRF3:NM_001145168:exon11:c.C1674A:p.D558E,ADGRF3:NM_001321971:exon10:c.C1470A:p.D490E, chr2 26534922 26534922 G T het . 6 +line3547 synonymous SNV OTOF:NM_004802:exon28:c.G3441A:p.L1147L,OTOF:NM_194248:exon45:c.G5742A:p.L1914L,OTOF:NM_194323:exon28:c.G3441A:p.L1147L,OTOF:NM_001287489:exon45:c.G5742A:p.L1914L,OTOF:NM_194322:exon27:c.G3672A:p.L1224L, chr2 26683586 26683586 C T het . 27 +line3548 nonframeshift deletion OTOF:NM_004802:exon15:c.1627_1629del:p.543_543del,OTOF:NM_194248:exon32:c.3928_3930del:p.1310_1310del,OTOF:NM_194323:exon15:c.1627_1629del:p.543_543del,OTOF:NM_001287489:exon32:c.3928_3930del:p.1310_1310del,OTOF:NM_194322:exon14:c.1858_1860del:p.620_620del, chr2 26693554 26693556 CTT - het . 21 +line3551 stopgain C2orf70:NM_001105519:exon4:c.C474A:p.C158X, chr2 26802174 26802174 C A het . 12 +line3553 synonymous SNV KCNK3:NM_002246:exon2:c.C504A:p.I168I, chr2 26950755 26950755 C A het . 8 +line3560 synonymous SNV CAD:NM_004341:exon2:c.C123T:p.T41T,CAD:NM_001306079:exon2:c.C123T:p.T41T, chr2 27440785 27440785 C T het . 3 +line3567 nonsynonymous SNV C2orf16:NM_032266:exon1:c.C3070A:p.L1024I, chr2 27802509 27802509 C A het . 18 +line3568 synonymous SNV C2orf16:NM_032266:exon1:c.G3087A:p.K1029K, chr2 27802526 27802526 G A het . 21 +line3569 nonsynonymous SNV C2orf16:NM_032266:exon1:c.T4993C:p.S1665P, chr2 27804432 27804432 T C het . 30 +line3570 frameshift deletion CCDC121:NM_001142683:exon2:c.1223_1224del:p.R408fs,CCDC121:NM_024584:exon2:c.737_738del:p.R246fs, chr2 27849929 27849930 TC - het . 9 +line3579 stopgain PLB1:NM_001170585:exon21:c.C1459T:p.R487X,PLB1:NM_153021:exon21:c.C1426T:p.R476X, chr2 28796165 28796165 C T het . 22 +line3593 nonsynonymous SNV TOGARAM2:NM_001321538:exon9:c.G1065C:p.K355N,TOGARAM2:NM_199280:exon9:c.G1065C:p.K355N, chr2 29240040 29240040 G C het . 5 +line3599 synonymous SNV ALK:NM_001353765:exon10:c.C1134T:p.T378T,ALK:NM_004304:exon29:c.C4338T:p.T1446T, chr2 29416615 29416615 G A het . 6 +line3614 synonymous SNV CAPN13:NM_144575:exon2:c.C90T:p.S30S, chr2 31010102 31010102 G A het . 16 +line3622 nonsynonymous SNV XDH:NM_000379:exon9:c.C724T:p.L242F, chr2 31609349 31609349 G A het . 24 +line3641 nonsynonymous SNV BIRC6:NM_016252:exon46:c.C8570G:p.S2857C, chr2 32724715 32724715 C G het . 21 +line3642 nonsynonymous SNV BIRC6:NM_016252:exon51:c.C9949A:p.L3317I, chr2 32733295 32733295 C A het . 14 +line3644 synonymous SNV BIRC6:NM_016252:exon65:c.C13101T:p.S4367S, chr2 32774505 32774505 C T het . 8 +line3645 nonsynonymous SNV BIRC6:NM_016252:exon67:c.G13384A:p.V4462I, chr2 32819010 32819010 G A het . 14 +line3696 nonsynonymous SNV FEZ2:NM_005102:exon6:c.C944G:p.P315R,FEZ2:NM_001042548:exon7:c.C1025G:p.P342R, chr2 36785616 36785616 G C het . 25 +line3700 synonymous SNV FEZ2:NM_005102:exon2:c.A312G:p.V104V,FEZ2:NM_001042548:exon2:c.A312G:p.V104V, chr2 36818109 36818109 T C het . 12 +line3715 nonsynonymous SNV PRKD3:NM_005813:exon4:c.C673T:p.P225S, chr2 37516543 37516543 G A het . 23 +line3761 synonymous SNV PKDCC:NM_138370:exon1:c.G537C:p.V179V, chr2 42275876 42275876 G C het . 11 +line3766 nonsynonymous SNV OXER1:NM_148962:exon1:c.G1095C:p.Q365H, chr2 42990225 42990225 C G het . 6 +line3767 frameshift deletion OXER1:NM_148962:exon1:c.757delC:p.H253fs, chr2 42990563 42990563 G - het . 10 +line3779 nonsynonymous SNV ZFP36L2:NM_006887:exon2:c.A1342C:p.S448R, chr2 43451601 43451601 T G het . 9 +line3799 nonsynonymous SNV PREPL:NM_001171603:exon11:c.G1534T:p.G512C,PREPL:NM_006036:exon10:c.G1534T:p.G512C,PREPL:NM_001171606:exon11:c.G1534T:p.G512C,PREPL:NM_001042385:exon9:c.G1348T:p.G450C,PREPL:NM_001042386:exon9:c.G1336T:p.G446C,PREPL:NM_001171617:exon10:c.G1267T:p.G423C,PREPL:NM_001171613:exon10:c.G1267T:p.G423C, chr2 44554063 44554063 C A het . 19 +line3820 synonymous SNV PIGF:NM_002643:exon4:c.A327G:p.A109A,PIGF:NM_173074:exon4:c.A327G:p.A109A, chr2 46839477 46839477 T C het . 14 +line3829 synonymous SNV TTC7A:NM_020458:exon7:c.G873C:p.L291L,TTC7A:NM_001288951:exon7:c.G873C:p.L291L,TTC7A:NM_001288953:exon8:c.G771C:p.L257L, chr2 47221525 47221525 G C het . 9 +line3830 synonymous SNV TTC7A:NM_020458:exon9:c.G1095T:p.V365V,TTC7A:NM_001288951:exon9:c.G1095T:p.V365V,TTC7A:NM_001288953:exon10:c.G993T:p.V331V,TTC7A:NM_001288955:exon8:c.G33T:p.V11V, chr2 47233090 47233090 G T het . 18 +line3856 nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon5:c.A2746G:p.N916D,GTF2A1L:NM_006872:exon6:c.A775G:p.N259D,STON1-GTF2A1L:NM_001198593:exon8:c.A2887G:p.N963D,STON1-GTF2A1L:NM_172311:exon8:c.A2887G:p.N963D,GTF2A1L:NM_001193487:exon5:c.A673G:p.N225D, chr2 48873978 48873978 A G het . 13 +line3860 nonframeshift insertion LHCGR:NM_000233:exon1:c.55_56insTGCAGC:p.P19delinsLQP, chr2 48982755 48982755 - GCTGCA het . 12 +line3891 nonsynonymous SNV C2orf73:NM_001100396:exon5:c.C761T:p.P254L, chr2 54587596 54587596 C T het . 17 +line3903 nonsynonymous SNV RTN4:NM_207521:exon3:c.G2089T:p.A697S,RTN4:NM_001321859:exon3:c.G2089T:p.A697S,RTN4:NM_001321863:exon3:c.G2089T:p.A697S,RTN4:NM_001321862:exon3:c.G2089T:p.A697S,RTN4:NM_001321904:exon4:c.G2089T:p.A697S,RTN4:NM_020532:exon3:c.G2707T:p.A903S,RTN4:NM_001321861:exon3:c.G2089T:p.A697S,RTN4:NM_001321860:exon3:c.G2089T:p.A697S, chr2 55252528 55252528 C A het . 23 +line3947 nonsynonymous SNV REL:NM_002908:exon7:c.C841A:p.P281T,REL:NM_001291746:exon7:c.C841A:p.P281T, chr2 61145729 61145729 C A het . 20 +line3964 synonymous SNV FAM161A:NM_001201543:exon4:c.T1746C:p.C582C, chr2 62065678 62065678 A G het . 20 +line3977 nonsynonymous SNV OTX1:NM_001199770:exon5:c.C986A:p.S329Y,OTX1:NM_014562:exon5:c.C986A:p.S329Y, chr2 63283372 63283372 C A het . 17 +line3992 synonymous SNV SLC1A4:NM_001348407:exon5:c.C156A:p.G52G,SLC1A4:NM_003038:exon5:c.C816A:p.G272G,SLC1A4:NM_001348406:exon5:c.C156A:p.G52G, chr2 65243589 65243589 C A het . 19 +line4005 nonsynonymous SNV ETAA1:NM_019002:exon5:c.C1862A:p.T621N, chr2 67631676 67631676 C A het . 42 +line4019 nonsynonymous SNV ARHGAP25:NM_001166276:exon9:c.C1453A:p.R485S,ARHGAP25:NM_001166277:exon9:c.C1354A:p.R452S,ARHGAP25:NM_001364820:exon9:c.C1357A:p.R453S,ARHGAP25:NM_001364819:exon10:c.C1471A:p.R491S,ARHGAP25:NM_014882:exon9:c.C1450A:p.R484S,ARHGAP25:NM_001007231:exon10:c.C1474A:p.R492S,ARHGAP25:NM_001364821:exon10:c.C1396A:p.R466S, chr2 69049745 69049745 C A het . 23 +line4030 nonsynonymous SNV AAK1:NM_014911:exon13:c.A1525C:p.K509Q, chr2 69741854 69741854 T G het . 8 +line4031 nonsynonymous SNV AAK1:NM_014911:exon3:c.G164T:p.G55V, chr2 69784110 69784110 C A het . 20 +line4032 nonsynonymous SNV MXD1:NM_002357:exon4:c.C214T:p.L72F,MXD1:NM_001202513:exon4:c.C214T:p.L72F,MXD1:NM_001202514:exon3:c.C184T:p.L62F, chr2 70162493 70162493 C T het . 28 +line4035 nonsynonymous SNV TIA1:NM_001351512:exon12:c.A932G:p.N311S,TIA1:NM_001351509:exon12:c.A1043G:p.N348S,TIA1:NM_001351508:exon13:c.A1067G:p.N356S,TIA1:NM_022037:exon12:c.A1037G:p.N346S,TIA1:NM_001351517:exon15:c.A647G:p.N216S,TIA1:NM_001351515:exon13:c.A767G:p.N256S,TIA1:NM_022173:exon13:c.A1070G:p.N357S,TIA1:NM_001351524:exon13:c.A650G:p.N217S,TIA1:NM_001351525:exon13:c.A650G:p.N217S,TIA1:NM_001351513:exon12:c.A926G:p.N309S,TIA1:NM_001351511:exon13:c.A959G:p.N320S,TIA1:NM_001351514:exon11:c.A842G:p.N281S,TIA1:NM_001351510:exon12:c.A1034G:p.N345S, chr2 70439942 70439942 T C het . 16 +line4050 synonymous SNV ANKRD53:NM_001115116:exon6:c.A1152G:p.T384T, chr2 71211989 71211989 A G het . 13 +line4056 nonsynonymous SNV ZNF638:NM_001252612:exon2:c.G526T:p.D176Y,ZNF638:NM_001252613:exon2:c.G526T:p.D176Y,ZNF638:NM_001014972:exon2:c.G526T:p.D176Y,ZNF638:NM_014497:exon2:c.G526T:p.D176Y, chr2 71576610 71576610 G T het . 18 +line4057 nonsynonymous SNV ZNF638:NM_001252612:exon2:c.C979A:p.L327M,ZNF638:NM_001252613:exon2:c.C979A:p.L327M,ZNF638:NM_001014972:exon2:c.C979A:p.L327M,ZNF638:NM_014497:exon2:c.C979A:p.L327M, chr2 71577063 71577063 C A het . 33 +line4065 nonframeshift insertion DYSF:NM_001130985:exon30:c.3235_3236insAGGCGG:p.Q1079delinsQAE,DYSF:NM_001130978:exon30:c.3181_3182insAGGCGG:p.Q1061delinsQAE,DYSF:NM_001130977:exon29:c.3139_3140insAGGCGG:p.Q1047delinsQAE,DYSF:NM_001130980:exon30:c.3232_3233insAGGCGG:p.Q1078delinsQAE,DYSF:NM_001130986:exon29:c.3142_3143insAGGCGG:p.Q1048delinsQAE,DYSF:NM_001130987:exon30:c.3235_3236insAGGCGG:p.Q1079delinsQAE,DYSF:NM_001130983:exon30:c.3184_3185insAGGCGG:p.Q1062delinsQAE,DYSF:NM_001130979:exon31:c.3274_3275insAGGCGG:p.Q1092delinsQAE,DYSF:NM_001130455:exon30:c.3184_3185insAGGCGG:p.Q1062delinsQAE,DYSF:NM_003494:exon30:c.3181_3182insAGGCGG:p.Q1061delinsQAE,DYSF:NM_001130976:exon29:c.3139_3140insAGGCGG:p.Q1047delinsQAE,DYSF:NM_001130982:exon31:c.3277_3278insAGGCGG:p.Q1093delinsQAE,DYSF:NM_001130984:exon29:c.3142_3143insAGGCGG:p.Q1048delinsQAE,DYSF:NM_001130981:exon30:c.3232_3233insAGGCGG:p.Q1078delinsQAE, chr2 71801334 71801334 - AGGCGG het . 13 +line4080 nonsynonymous SNV ALMS1:NM_015120:exon8:c.C6509A:p.A2170D, chr2 73680166 73680166 C A het . 22 +line4081 nonsynonymous SNV ALMS1:NM_015120:exon19:c.G12086A:p.R4029K, chr2 73828538 73828538 G A het . 23 +line4089 unknown UNKNOWN chr2 73927931 73927931 A G het . 8 +line4101 synonymous SNV CCDC142:NM_032779:exon1:c.G180T:p.P60P, chr2 74709785 74709785 C A het . 15 +line4214 nonsynonymous SNV REEP1:NM_022912:exon5:c.G409T:p.A137S,REEP1:NM_001164730:exon5:c.G430T:p.A144S,REEP1:NM_001164731:exon4:c.G328T:p.A110S, chr2 86479088 86479088 C A het . 35 +line4217 nonsynonymous SNV KDM3A:NM_018433:exon10:c.G1250T:p.C417F,KDM3A:NM_001146688:exon10:c.G1250T:p.C417F, chr2 86693737 86693737 G T het . 32 +line4393 nonsynonymous SNV ANKRD36C:NM_001310154:exon82:c.C4963A:p.L1655I, chr2 96525640 96525640 G T het . 25 +line4394 nonsynonymous SNV ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A, chr2 96525643 96525643 T C het . 26 +line4395 nonsynonymous SNV ANKRD36C:NM_001310154:exon82:c.A4951G:p.K1651E, chr2 96525652 96525652 T C het . 26 +line4396 synonymous SNV ANKRD36C:NM_001310154:exon82:c.G4944A:p.S1648S, chr2 96525659 96525659 C T het . 26 +line4405 synonymous SNV ITPRIPL1:NM_001008949:exon3:c.G1605A:p.E535E,ITPRIPL1:NM_001163524:exon2:c.G1581A:p.E527E,ITPRIPL1:NM_001324490:exon2:c.G1581A:p.E527E,ITPRIPL1:NM_178495:exon1:c.G1629A:p.E543E,ITPRIPL1:NM_001163523:exon2:c.G1581A:p.E527E, chr2 96993974 96993974 G A het . 11 +line4408 nonsynonymous SNV KANSL3:NM_001349257:exon11:c.G1306T:p.D436Y,KANSL3:NM_001349261:exon11:c.G622T:p.D208Y,KANSL3:NM_001349260:exon10:c.G688T:p.D230Y,KANSL3:NM_001115016:exon11:c.G1306T:p.D436Y,KANSL3:NM_001349256:exon11:c.G1306T:p.D436Y,KANSL3:NM_001349259:exon11:c.G1045T:p.D349Y,KANSL3:NM_001349258:exon11:c.G1306T:p.D436Y,KANSL3:NM_001349262:exon9:c.G622T:p.D208Y, chr2 97276476 97276476 C A het . 12 +line4409 nonsynonymous SNV CNNM4:NM_020184:exon1:c.C1133A:p.T378N, chr2 97427869 97427869 C A het . 18 +line4421 nonsynonymous SNV ANKRD36:NM_001354587:exon18:c.G1393A:p.G465R, chr2 97827839 97827839 G A het . 12 +line4427 nonsynonymous SNV ANKRD36B:NM_025190:exon20:c.A1448G:p.E483G, chr2 98165911 98165911 T C het . 13 +line4428 nonsynonymous SNV ANKRD36B:NM_025190:exon20:c.G1412T:p.S471I, chr2 98165947 98165947 C A het . 31 +line4434 synonymous SNV TMEM131:NM_015348:exon31:c.T3987G:p.P1329P, chr2 98409006 98409006 A C het . 7 +line4435 synonymous SNV TMEM131:NM_015348:exon31:c.A3981C:p.A1327A, chr2 98409012 98409012 T G het . 5 +line4444 stopgain TSGA10:NM_001349014:exon14:c.G1462T:p.E488X,TSGA10:NM_001349013:exon14:c.G1462T:p.E488X,TSGA10:NM_025244:exon18:c.G1789T:p.E597X,TSGA10:NM_001349012:exon16:c.G1789T:p.E597X,TSGA10:NM_182911:exon17:c.G1789T:p.E597X, chr2 99636771 99636771 C A het . 36 +line4446 nonsynonymous SNV LYG1:NM_174898:exon4:c.G146T:p.C49F, chr2 99909001 99909001 C A het . 18 +line4453 synonymous SNV REV1:NM_016316:exon20:c.T3240C:p.I1080I,REV1:NM_001321460:exon21:c.T1671C:p.I557I,REV1:NM_001321459:exon21:c.T1671C:p.I557I,REV1:NM_001321454:exon21:c.T3348C:p.I1116I,REV1:NM_001321455:exon21:c.T3027C:p.I1009I,REV1:NM_001037872:exon20:c.T3237C:p.I1079I,REV1:NM_001321458:exon21:c.T1770C:p.I590I, chr2 100019496 100019496 A G het . 24 +line4537 nonsynonymous SNV SLC5A7:NM_001305005:exon8:c.C1108A:p.Q370K,SLC5A7:NM_001305007:exon8:c.C367A:p.Q123K,SLC5A7:NM_001305006:exon7:c.C793A:p.Q265K,SLC5A7:NM_021815:exon8:c.C1108A:p.Q370K, chr2 108625133 108625133 C A het . 18 +line4540 nonsynonymous SNV SULT1C2:NM_001056:exon8:c.C809A:p.T270N,SULT1C2:NM_176825:exon9:c.C842A:p.T281N, chr2 108924838 108924838 C A het . 21 +line4543 synonymous SNV CCDC138:NM_001351544:exon6:c.A702G:p.K234K,CCDC138:NM_001351553:exon6:c.A702G:p.K234K,CCDC138:NM_001303105:exon6:c.A684G:p.K228K,CCDC138:NM_001351549:exon6:c.A684G:p.K228K,CCDC138:NM_001351548:exon5:c.A558G:p.K186K,CCDC138:NM_001351545:exon5:c.A669G:p.K223K,CCDC138:NM_001351555:exon6:c.A684G:p.K228K,CCDC138:NM_001351557:exon5:c.A669G:p.K223K,CCDC138:NM_001351554:exon6:c.A702G:p.K234K,CCDC138:NM_001351551:exon6:c.A684G:p.K228K,CCDC138:NM_001351561:exon5:c.A669G:p.K223K,CCDC138:NM_144978:exon6:c.A684G:p.K228K,CCDC138:NM_001351559:exon6:c.A684G:p.K228K, chr2 109414991 109414991 A G het . 26 +line4548 nonsynonymous SNV SEPT10:NM_178584:exon2:c.G64A:p.G22S,SEPT10:NM_001321498:exon3:c.G133A:p.G45S,SEPT10:NM_001321500:exon2:c.G64A:p.G22S,SEPT10:NM_001321502:exon2:c.G64A:p.G22S,SEPT10:NM_001321512:exon3:c.G133A:p.G45S,SEPT10:NM_001321509:exon3:c.G7A:p.G3S,SEPT10:NM_001321513:exon3:c.G106A:p.G36S,SEPT10:NM_001321501:exon3:c.G7A:p.G3S,SEPT10:NM_144710:exon3:c.G133A:p.G45S,SEPT10:NM_001321515:exon2:c.G37A:p.G13S,SEPT10:NM_001321514:exon3:c.G88A:p.G30S, chr2 110343382 110343382 C T het . 26 +line4553 nonsynonymous SNV BUB1:NM_004336:exon8:c.C677T:p.A226V,BUB1:NM_001278617:exon8:c.C677T:p.A226V,BUB1:NM_001278616:exon7:c.C617T:p.A206V, chr2 111425226 111425226 G A het . 22 +line4554 nonsynonymous SNV BUB1:NM_004336:exon4:c.G226T:p.A76S,BUB1:NM_001278617:exon4:c.G226T:p.A76S,BUB1:NM_001278616:exon3:c.G166T:p.A56S, chr2 111430434 111430434 C A het . 4 +line4569 nonframeshift deletion TMEM87B:NM_001329914:exon5:c.498_500del:p.166_167del,TMEM87B:NM_032824:exon5:c.498_500del:p.166_167del, chr2 112832536 112832538 AAT - het . 19 +line4571 nonsynonymous SNV ZC3H6:NM_198581:exon2:c.C66G:p.D22E, chr2 113057459 113057459 C G het . 23 +line4647 nonsynonymous SNV C2orf76:NM_001322331:exon3:c.A136G:p.I46V,C2orf76:NM_001017927:exon4:c.A136G:p.I46V,C2orf76:NM_001322329:exon4:c.A136G:p.I46V,C2orf76:NM_001322330:exon3:c.A136G:p.I46V, chr2 120078778 120078778 T C het . 19 +line4660 nonsynonymous SNV PTPN4:NM_002830:exon21:c.G1991T:p.R664L, chr2 120714430 120714430 G T het . 12 +line4663 synonymous SNV PTPN4:NM_002830:exon26:c.C2671A:p.R891R, chr2 120725525 120725525 C A het . 16 +line4685 nonsynonymous SNV CLASP1:NM_001142274:exon36:c.G4201T:p.G1401C,CLASP1:NM_001207051:exon36:c.G4219T:p.G1407C,CLASP1:NM_015282:exon37:c.G4402T:p.G1468C,CLASP1:NM_001142273:exon37:c.G4225T:p.G1409C, chr2 122106099 122106099 C A het . 17 +line4711 nonsynonymous SNV GYPC:NM_002101:exon1:c.A10G:p.T4A,GYPC:NM_016815:exon1:c.A10G:p.T4A, chr2 127413849 127413849 A G het . 26 +line4719 nonsynonymous SNV MAP3K2:NM_006609:exon7:c.G467A:p.G156D, chr2 128084393 128084393 C T het . 10 +line4724 nonsynonymous SNV PROC:NM_000312:exon9:c.A886C:p.T296P, chr2 128186022 128186022 A C het . 24 +line4730 synonymous SNV MYO7B:NM_001080527:exon36:c.G4869A:p.E1623E, chr2 128388790 128388790 G A het . 5 +line4769 nonsynonymous SNV PLEKHB2:NM_001309451:exon3:c.C59A:p.P20Q,PLEKHB2:NM_001267064:exon4:c.C203A:p.P68Q,PLEKHB2:NM_001267068:exon4:c.C203A:p.P68Q,PLEKHB2:NM_001100623:exon4:c.C203A:p.P68Q,PLEKHB2:NM_017958:exon4:c.C203A:p.P68Q,PLEKHB2:NM_001309448:exon3:c.C59A:p.P20Q,PLEKHB2:NM_001267065:exon4:c.C203A:p.P68Q,PLEKHB2:NM_001267066:exon4:c.C203A:p.P68Q,PLEKHB2:NM_001309452:exon5:c.C59A:p.P20Q,PLEKHB2:NM_001267067:exon4:c.C203A:p.P68Q,PLEKHB2:NM_001267063:exon4:c.C203A:p.P68Q,PLEKHB2:NM_001267062:exon4:c.C203A:p.P68Q, chr2 131884269 131884269 C A het . 19 +line4951 nonsynonymous SNV ZNF806:NM_001304449:exon3:c.T23C:p.V8A,ZNF806:NM_001355461:exon3:c.T23C:p.V8A, chr2 133070449 133070449 T C het . 17 +line4952 nonsynonymous SNV ZNF806:NM_001304449:exon3:c.G82T:p.A28S,ZNF806:NM_001355461:exon3:c.G82T:p.A28S, chr2 133070508 133070508 G T het . 25 +line4953 synonymous SNV ZNF806:NM_001304449:exon3:c.C105T:p.D35D,ZNF806:NM_001355461:exon3:c.C105T:p.D35D, chr2 133070531 133070531 C T het . 16 +line4958 synonymous SNV ZNF806:NM_001304449:exon4:c.T144C:p.D48D, chr2 133074683 133074683 T C het . 9 +line4959 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.A220C:p.K74Q, chr2 133074759 133074759 A C het . 15 +line4960 synonymous SNV ZNF806:NM_001304449:exon4:c.A312T:p.V104V, chr2 133074851 133074851 A T het . 22 +line4961 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.G488A:p.G163E, chr2 133075027 133075027 G A het . 29 +line4962 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.C565T:p.R189C, chr2 133075104 133075104 C T het . 24 +line4963 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.C668T:p.A223V, chr2 133075207 133075207 C T het . 22 +line4964 frameshift deletion ZNF806:NM_001304449:exon4:c.940delC:p.P314fs, chr2 133075479 133075479 C - het . 13 +line4965 synonymous SNV ZNF806:NM_001304449:exon4:c.A1063C:p.R355R, chr2 133075602 133075602 A C het . 13 +line4966 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.C1073T:p.P358L, chr2 133075612 133075612 C T het . 15 +line4967 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.G1076C:p.C359S, chr2 133075615 133075615 G C het . 14 +line4968 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.G1100T:p.G367V, chr2 133075639 133075639 G T het . 12 +line4969 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.T1125G:p.D375E, chr2 133075664 133075664 T G het . 18 +line4970 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.G1135C:p.G379R, chr2 133075674 133075674 G C het . 19 +line4971 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.A1187G:p.E396G, chr2 133075726 133075726 A G het . 16 +line4972 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.T1493G:p.F498C, chr2 133076032 133076032 T G het . 29 +line4973 synonymous SNV ZNF806:NM_001304449:exon4:c.A1509G:p.A503A, chr2 133076048 133076048 A G het . 31 +line4974 frameshift deletion ZNF806:NM_001304449:exon4:c.1579delA:p.N527fs, chr2 133076118 133076118 A - het . 31 +line4975 nonsynonymous SNV ZNF806:NM_001304449:exon4:c.G1616A:p.C539Y, chr2 133076155 133076155 G A het . 21 +line4996 nonsynonymous SNV GPR39:NM_001508:exon2:c.G1132A:p.A378T, chr2 133402949 133402949 G A het . 9 +line5002 nonsynonymous SNV ACMSD:NM_001307983:exon6:c.G379A:p.A127T,ACMSD:NM_138326:exon6:c.G553A:p.A185T, chr2 135625215 135625215 G A het . 13 +line5050 synonymous SNV LRP1B:NM_018557:exon50:c.C8103T:p.C2701C, chr2 141274504 141274504 G A het . 31 +line5116 nonsynonymous SNV MBD5:NM_018328:exon9:c.A1001C:p.Q334P, chr2 149226513 149226513 A C het . 30 +line5117 synonymous SNV MBD5:NM_018328:exon9:c.A1008C:p.P336P, chr2 149226520 149226520 A C het . 29 +line5139 nonframeshift deletion TNFAIP6:NM_007115:exon6:c.833delA:p.X278X, chr2 152236046 152236046 A - het . 5 +line5145 nonsynonymous SNV NEB:NM_001164507:exon116:c.G18305C:p.R6102T,NEB:NM_004543:exon88:c.G13166C:p.R4389T,NEB:NM_001271208:exon116:c.G18305C:p.R6102T,NEB:NM_001164508:exon116:c.G18305C:p.R6102T, chr2 152422076 152422076 C G het . 16 +line5146 synonymous SNV NEB:NM_001164507:exon116:c.T18294C:p.Y6098Y,NEB:NM_004543:exon88:c.T13155C:p.Y4385Y,NEB:NM_001271208:exon116:c.T18294C:p.Y6098Y,NEB:NM_001164508:exon116:c.T18294C:p.Y6098Y, chr2 152422087 152422087 A G het . 17 +line5151 nonsynonymous SNV NEB:NM_001164507:exon7:c.G478T:p.A160S,NEB:NM_004543:exon7:c.G478T:p.A160S,NEB:NM_001271208:exon7:c.G478T:p.A160S,NEB:NM_001164508:exon7:c.G478T:p.A160S, chr2 152581400 152581400 C A het . 9 +line5192 nonsynonymous SNV KCNJ3:NM_002239:exon2:c.C729A:p.F243L,KCNJ3:NM_001260509:exon2:c.C729A:p.F243L, chr2 155566141 155566141 C A het . 16 +line5210 synonymous SNV CCDC148:NM_001301685:exon7:c.C663T:p.Y221Y,CCDC148:NM_001301684:exon5:c.C225T:p.Y75Y,CCDC148:NM_138803:exon7:c.C663T:p.Y221Y, chr2 159195339 159195339 G A het . 24 +line5224 nonsynonymous SNV TANC1:NM_001350063:exon25:c.C3945A:p.D1315E,TANC1:NM_001350064:exon27:c.C4293A:p.D1431E,TANC1:NM_033394:exon27:c.C4314A:p.D1438E,TANC1:NM_001350065:exon28:c.C4293A:p.D1431E,TANC1:NM_001350062:exon24:c.C3711A:p.D1237E, chr2 160086251 160086251 C A het . 29 +line5228 synonymous SNV BAZ2B:NM_001329857:exon28:c.G4329T:p.T1443T,BAZ2B:NM_001289975:exon27:c.G4383T:p.T1461T,BAZ2B:NM_013450:exon28:c.G4491T:p.T1497T,BAZ2B:NM_001329858:exon28:c.G4416T:p.T1472T, chr2 160206591 160206591 C A het . 22 +line5259 synonymous SNV RBMS1:NM_016836:exon3:c.G297A:p.T99T,RBMS1:NM_002897:exon3:c.G297A:p.T99T, chr2 161174693 161174693 C T het . 14 +line5291 synonymous SNV SLC4A10:NM_022058:exon23:c.A3111C:p.V1037V,SLC4A10:NM_001354440:exon24:c.A3201C:p.V1067V,SLC4A10:NM_001354447:exon25:c.A3147C:p.V1049V,SLC4A10:NM_001354443:exon24:c.A3147C:p.V1049V,SLC4A10:NM_001354461:exon26:c.A3237C:p.V1079V,SLC4A10:NM_001354449:exon23:c.A3108C:p.V1036V,SLC4A10:NM_001354448:exon24:c.A3141C:p.V1047V,SLC4A10:NM_001178016:exon24:c.A3144C:p.V1048V,SLC4A10:NM_001354442:exon25:c.A3234C:p.V1078V,SLC4A10:NM_001354455:exon24:c.A2532C:p.V844V,SLC4A10:NM_001354444:exon24:c.A3198C:p.V1066V,SLC4A10:NM_001354450:exon23:c.A3111C:p.V1037V,SLC4A10:NM_001354453:exon22:c.A2964C:p.V988V,SLC4A10:NM_001354441:exon25:c.A3234C:p.V1078V,SLC4A10:NM_001354460:exon25:c.A3237C:p.V1079V,SLC4A10:NM_001178015:exon24:c.A3201C:p.V1067V,SLC4A10:NM_001354451:exon23:c.A3108C:p.V1036V,SLC4A10:NM_001354446:exon23:c.A3111C:p.V1037V,SLC4A10:NM_001354445:exon24:c.A3144C:p.V1048V, chr2 162830800 162830800 A C het . 17 +line5309 synonymous SNV SCN3A:NM_001081676:exon28:c.C5511T:p.V1837V,SCN3A:NM_006922:exon28:c.C5658T:p.V1886V,SCN3A:NM_001081677:exon28:c.C5511T:p.V1837V, chr2 165947005 165947005 G A het . 45 +line5310 synonymous SNV SCN3A:NM_001081676:exon22:c.T3786C:p.P1262P,SCN3A:NM_006922:exon22:c.T3933C:p.P1311P,SCN3A:NM_001081677:exon22:c.T3786C:p.P1262P, chr2 165956845 165956845 A G het . 43 +line5312 stopgain SCN3A:NM_001081676:exon12:c.G1627T:p.G543X,SCN3A:NM_006922:exon12:c.G1627T:p.G543X,SCN3A:NM_001081677:exon12:c.G1627T:p.G543X, chr2 166003293 166003293 C A het . 32 +line5321 synonymous SNV GALNT3:NM_004482:exon5:c.G1023T:p.S341S, chr2 166615896 166615896 C A het . 39 +line5323 nonsynonymous SNV GALNT3:NM_004482:exon4:c.G829T:p.D277Y, chr2 166618424 166618424 C A het . 46 +line5352 stopgain XIRP2:NM_001199143:exon10:c.C1381T:p.R461X,XIRP2:NM_001199145:exon7:c.C616T:p.R206X,XIRP2:NM_001079810:exon9:c.C1282T:p.R428X, chr2 168110647 168110647 C T het . 14 +line5367 nonsynonymous SNV NOSTRIN:NM_001039724:exon16:c.G1418A:p.G473E,NOSTRIN:NM_001171632:exon15:c.G1334A:p.G445E,NOSTRIN:NM_052946:exon15:c.G1184A:p.G395E,NOSTRIN:NM_001171631:exon21:c.G1589A:p.G530E, chr2 169721377 169721377 G A het . 25 +line5371 synonymous SNV LRP2:NM_004525:exon63:c.C11772T:p.T3924T, chr2 170019097 170019097 G A het . 35 +line5384 nonsynonymous SNV FASTKD1:NM_001322046:exon6:c.G1046T:p.G349V,FASTKD1:NM_001281476:exon6:c.G1046T:p.G349V,FASTKD1:NM_024622:exon6:c.G1046T:p.G349V,FASTKD1:NM_001322049:exon5:c.G977T:p.G326V,FASTKD1:NM_001322048:exon5:c.G977T:p.G326V, chr2 170413733 170413733 C A het . 39 +line5393 synonymous SNV KLHL23:NM_144711:exon2:c.A1185G:p.K395K,PHOSPHO2-KLHL23:NM_001199290:exon4:c.A1185G:p.K395K, chr2 170592709 170592709 A G het . 3 +line5409 nonsynonymous SNV MYO3B:NM_001083615:exon9:c.C845A:p.P282H,MYO3B:NM_138995:exon9:c.C845A:p.P282H, chr2 171225761 171225761 C A het . 15 +line5413 synonymous SNV SP5:NM_001003845:exon2:c.G468T:p.P156P, chr2 171573185 171573185 G T het . 12 +line5424 nonsynonymous SNV TLK1:NM_012290:exon16:c.G1513T:p.A505S,TLK1:NM_001136555:exon14:c.G1225T:p.A409S,TLK1:NM_001136554:exon16:c.G1369T:p.A457S, chr2 171863395 171863395 C A het . 17 +line5456 nonsynonymous SNV ITGA6:NM_001316306:exon24:c.C2666A:p.A889D,ITGA6:NM_000210:exon24:c.C3023A:p.A1008D,ITGA6:NM_001079818:exon24:c.C3023A:p.A1008D, chr2 173362737 173362737 C A het . 33 +line5461 synonymous SNV RAPGEF4:NM_001282901:exon4:c.C309A:p.G103G,RAPGEF4:NM_001282900:exon6:c.C456A:p.G152G,RAPGEF4:NM_001100397:exon7:c.C537A:p.G179G,RAPGEF4:NM_007023:exon10:c.C969A:p.G323G,RAPGEF4:NM_001282899:exon7:c.C510A:p.G170G, chr2 173832137 173832137 C A het . 9 +line5484 synonymous SNV CHRNA1:NM_000079:exon4:c.C252T:p.N84N,CHRNA1:NM_001039523:exon5:c.C327T:p.N109N, chr2 175622386 175622386 G A het . 33 +line5497 synonymous SNV LNPK:NM_001305009:exon10:c.T720G:p.P240P, chr2 176805795 176805795 A C het . 7 +line5498 nonframeshift deletion HOXD8:NM_001199746:exon1:c.52_54del:p.18_18del,HOXD8:NM_019558:exon1:c.52_54del:p.18_18del, chr2 176995146 176995148 GCG - het . 10 +line5512 nonsynonymous SNV NFE2L2:NM_001313901:exon5:c.G719T:p.S240I,NFE2L2:NM_001145413:exon5:c.G698T:p.S233I,NFE2L2:NM_001313903:exon5:c.G548T:p.S183I,NFE2L2:NM_001313902:exon4:c.G677T:p.S226I,NFE2L2:NM_006164:exon5:c.G767T:p.S256I,NFE2L2:NM_001313900:exon5:c.G719T:p.S240I,NFE2L2:NM_001145412:exon5:c.G719T:p.S240I,NFE2L2:NM_001313904:exon5:c.G467T:p.S156I, chr2 178096564 178096564 C A het . 24 +line5519 synonymous SNV TTC30B:NM_152517:exon1:c.T810A:p.A270A, chr2 178416682 178416682 A T het . 12 +line5522 nonframeshift insertion PDE11A:NM_001077358:exon19:c.1689_1690insTCC:p.P564delinsSP,PDE11A:NM_001077197:exon21:c.2013_2014insTCC:p.P672delinsSP,PDE11A:NM_016953:exon20:c.2763_2764insTCC:p.P922delinsSP,PDE11A:NM_001077196:exon17:c.1431_1432insTCC:p.P478delinsSP, chr2 178494173 178494173 - GGA het . 31 +line5529 nonsynonymous SNV PRKRA:NM_003690:exon5:c.T485G:p.I162S,PRKRA:NM_001316362:exon6:c.T146G:p.I49S,PRKRA:NM_001139517:exon4:c.T452G:p.I151S,PRKRA:NM_001139518:exon5:c.T410G:p.I137S, chr2 179308023 179308023 A C het . 21 +line5534 nonsynonymous SNV TTN:NM_133432:exon187:c.G78569T:p.R26190I,TTN:NM_003319:exon186:c.G78194T:p.R26065I,TTN:NM_001267550:exon358:c.G105389T:p.R35130I,TTN:NM_133378:exon307:c.G97685T:p.R32562I,TTN:NM_001256850:exon308:c.G100466T:p.R33489I,TTN:NM_133437:exon187:c.G78770T:p.R26257I, chr2 179395953 179395953 C A het . 32 +line5535 synonymous SNV TTN:NM_133432:exon187:c.A78564G:p.A26188A,TTN:NM_003319:exon186:c.A78189G:p.A26063A,TTN:NM_001267550:exon358:c.A105384G:p.A35128A,TTN:NM_133378:exon307:c.A97680G:p.A32560A,TTN:NM_001256850:exon308:c.A100461G:p.A33487A,TTN:NM_133437:exon187:c.A78765G:p.A26255A, chr2 179395958 179395958 T C het . 32 +line5536 synonymous SNV TTN:NM_133432:exon176:c.C69903T:p.A23301A,TTN:NM_003319:exon175:c.C69528T:p.A23176A,TTN:NM_001267550:exon347:c.C96723T:p.A32241A,TTN:NM_133378:exon296:c.C89019T:p.A29673A,TTN:NM_001256850:exon297:c.C91800T:p.A30600A,TTN:NM_133437:exon176:c.C70104T:p.A23368A, chr2 179407977 179407977 G A het . 17 +line5537 nonsynonymous SNV TTN:NM_133432:exon155:c.G44087A:p.R14696H,TTN:NM_003319:exon154:c.G43712A:p.R14571H,TTN:NM_001267550:exon326:c.G70907A:p.R23636H,TTN:NM_133378:exon275:c.G63203A:p.R21068H,TTN:NM_001256850:exon276:c.G65984A:p.R21995H,TTN:NM_133437:exon155:c.G44288A:p.R14763H, chr2 179439952 179439952 C T het . 19 +line5538 synonymous SNV TTN:NM_133432:exon152:c.A41850G:p.K13950K,TTN:NM_003319:exon151:c.A41475G:p.K13825K,TTN:NM_001267550:exon323:c.A68670G:p.K22890K,TTN:NM_133378:exon272:c.A60966G:p.K20322K,TTN:NM_001256850:exon273:c.A63747G:p.K21249K,TTN:NM_133437:exon152:c.A42051G:p.K14017K, chr2 179442483 179442483 T C het . 18 +line5549 nonsynonymous SNV TTN:NM_001267550:exon50:c.G14791T:p.G4931W,TTN:NM_133378:exon47:c.G11059T:p.G3687W,TTN:NM_001256850:exon48:c.G13840T:p.G4614W, chr2 179600382 179600382 C A het . 28 +line5550 nonsynonymous SNV TTN:NM_133432:exon46:c.G12443T:p.G4148V,TTN:NM_003319:exon45:c.G12068T:p.G4023V,TTN:NM_001267550:exon48:c.G13157T:p.G4386V,TTN:NM_001256850:exon46:c.G12206T:p.G4069V,TTN:NM_133437:exon46:c.G12644T:p.G4215V, chr2 179604803 179604803 C A het . 21 +line5551 nonsynonymous SNV TTN:NM_133379:exon46:c.C14662T:p.P4888S, chr2 179612465 179612465 G A het . 24 +line5552 nonsynonymous SNV TTN:NM_133379:exon46:c.G12977T:p.C4326F, chr2 179614150 179614150 C A het . 37 +line5555 nonsynonymous SNV TTN:NM_001267550:exon46:c.G10954T:p.A3652S,TTN:NM_133437:exon44:c.G10441T:p.A3481S, chr2 179621249 179621249 C A het . 10 +line5559 synonymous SNV TTN:NM_133379:exon14:c.G2244A:p.E748E,TTN:NM_133432:exon13:c.G2106A:p.E702E,TTN:NM_003319:exon13:c.G2106A:p.E702E,TTN:NM_001267550:exon14:c.G2244A:p.E748E,TTN:NM_133378:exon14:c.G2244A:p.E748E,TTN:NM_001256850:exon14:c.G2244A:p.E748E,TTN:NM_133437:exon13:c.G2106A:p.E702E, chr2 179650701 179650701 C T het . 28 +line5560 nonsynonymous SNV TTN:NM_133379:exon14:c.G2230A:p.A744T,TTN:NM_133432:exon13:c.G2092A:p.A698T,TTN:NM_003319:exon13:c.G2092A:p.A698T,TTN:NM_001267550:exon14:c.G2230A:p.A744T,TTN:NM_133378:exon14:c.G2230A:p.A744T,TTN:NM_001256850:exon14:c.G2230A:p.A744T,TTN:NM_133437:exon13:c.G2092A:p.A698T, chr2 179650715 179650715 C T het . 32 +line5606 nonsynonymous SNV DNAJC10:NM_018981:exon21:c.G2059A:p.G687R,DNAJC10:NM_001271581:exon20:c.G1921A:p.G641R, chr2 183623948 183623948 G A het . 14 +line5624 nonframeshift insertion ZNF804A:NM_194250:exon4:c.2088_2089insACA:p.N696delinsNT, chr2 185802211 185802211 - ACA het . 32 +line5625 nonsynonymous SNV ZNF804A:NM_194250:exon4:c.C2120A:p.T707K, chr2 185802243 185802243 C A het . 25 +line5631 nonsynonymous SNV FSIP2:NM_173651:exon16:c.G3863A:p.R1288Q, chr2 186655726 186655726 G A het . 19 +line5632 nonsynonymous SNV FSIP2:NM_173651:exon16:c.C4112A:p.A1371E, chr2 186655975 186655975 C A het . 23 +line5642 nonframeshift insertion FAM171B:NM_177454:exon1:c.129_130insCAG:p.Q43delinsQQ, chr2 187559029 187559029 - CAG het . 15 +line5644 nonsynonymous SNV ZSWIM2:NM_182521:exon9:c.G1579T:p.A527S, chr2 187693034 187693034 C A het . 28 +line5669 nonsynonymous SNV COL3A1:NM_000090:exon16:c.C1091A:p.A364D, chr2 189858127 189858127 C A het . 40 +line5673 synonymous SNV COL5A2:NM_000393:exon51:c.G3885T:p.T1295T, chr2 189904038 189904038 C A het . 35 +line5686 nonsynonymous SNV WDR75:NM_001303096:exon17:c.T1581A:p.N527K,WDR75:NM_032168:exon16:c.T1773A:p.N591K, chr2 190334119 190334119 T A het . 44 +line5703 nonsynonymous SNV MSTN:NM_005259:exon3:c.T888A:p.D296E, chr2 190922224 190922224 A T het . 34 +line5705 nonsynonymous SNV C2orf88:NM_001042519:exon2:c.C167T:p.T56I,C2orf88:NM_001042520:exon2:c.C167T:p.T56I,C2orf88:NM_032321:exon2:c.C167T:p.T56I,C2orf88:NM_001042521:exon3:c.C167T:p.T56I, chr2 191064753 191064753 C T het . 50 +line5711 nonsynonymous SNV MFSD6:NM_017694:exon3:c.G763A:p.V255I, chr2 191301518 191301518 G A het . 43 +line5721 nonsynonymous SNV STAT1:NM_007315:exon4:c.G175T:p.D59Y,STAT1:NM_139266:exon4:c.G175T:p.D59Y, chr2 191873787 191873787 C A het . 42 +line5743 nonsynonymous SNV CAVIN2:NM_004657:exon2:c.T1150G:p.S384A, chr2 192700777 192700777 A C het . 39 +line5802 nonsynonymous SNV DNAH7:NM_018897:exon41:c.G7044T:p.Q2348H, chr2 196729335 196729335 C A het . 32 +line5806 nonsynonymous SNV DNAH7:NM_018897:exon14:c.C1633T:p.R545C, chr2 196851911 196851911 G A het . 19 +line5812 nonsynonymous SNV STK17B:NM_004226:exon8:c.G1069A:p.D357N, chr2 197002221 197002221 C T het . 20 +line5828 frameshift deletion CCDC150:NM_001080539:exon7:c.839delA:p.Q280fs, chr2 197531519 197531519 A - het . 30 +line5851 nonsynonymous SNV SF3B1:NM_012433:exon11:c.G1444T:p.V482F, chr2 198269895 198269895 C A het . 28 +line5883 nonsynonymous SNV SATB2:NM_001172517:exon5:c.G357T:p.K119N,SATB2:NM_015265:exon5:c.G357T:p.K119N,SATB2:NM_001172509:exon4:c.G357T:p.K119N, chr2 200246533 200246533 C A het . 40 +line5892 synonymous SNV FTCDNL1:NM_001350853:exon4:c.G426T:p.L142L, chr2 200684266 200684266 C A het . 10 +line5920 nonsynonymous SNV C2CD6:NM_001168221:exon15:c.G2178T:p.L726F, chr2 202358886 202358886 C A het . 39 +line5928 synonymous SNV ALS2:NM_020919:exon29:c.G4416T:p.T1472T, chr2 202571733 202571733 C A het . 27 +line5929 nonsynonymous SNV ALS2:NM_020919:exon25:c.G3964T:p.A1322S, chr2 202580435 202580435 C A het . 30 +line5941 synonymous SNV FZD7:NM_003507:exon1:c.C126T:p.S42S, chr2 202899496 202899496 C T het . 19 +line5946 synonymous SNV KIAA2012:NM_001277372:exon22:c.G3279A:p.E1093E, chr2 203061614 203061614 G A het . 56 +line5961 synonymous SNV NBEAL1:NM_001114132:exon34:c.G5448A:p.P1816P, chr2 204016260 204016260 G A het . 26 +line5993 nonsynonymous SNV NRP2:NM_201279:exon2:c.A134C:p.Y45S,NRP2:NM_201266:exon2:c.A134C:p.Y45S,NRP2:NM_018534:exon2:c.A134C:p.Y45S,NRP2:NM_201264:exon2:c.A134C:p.Y45S,NRP2:NM_201267:exon2:c.A134C:p.Y45S,NRP2:NM_003872:exon2:c.A134C:p.Y45S, chr2 206562328 206562328 A C het . 24 +line5994 nonsynonymous SNV NRP2:NM_201279:exon2:c.A140C:p.Q47P,NRP2:NM_201266:exon2:c.A140C:p.Q47P,NRP2:NM_018534:exon2:c.A140C:p.Q47P,NRP2:NM_201264:exon2:c.A140C:p.Q47P,NRP2:NM_201267:exon2:c.A140C:p.Q47P,NRP2:NM_003872:exon2:c.A140C:p.Q47P, chr2 206562334 206562334 A C het . 27 +line5995 nonframeshift substitution NRP2:NM_201279:exon2:c.145_146GG,NRP2:NM_201266:exon2:c.145_146GG,NRP2:NM_018534:exon2:c.145_146GG,NRP2:NM_201264:exon2:c.145_146GG,NRP2:NM_201267:exon2:c.145_146GG,NRP2:NM_003872:exon2:c.145_146GG, chr2 206562339 206562340 TA GG het . 27 +line5996 nonsynonymous SNV NRP2:NM_018534:exon16:c.A2672C:p.E891A,NRP2:NM_201267:exon16:c.A2657C:p.E886A, chr2 206641201 206641201 A C het . 23 +line6018 nonsynonymous SNV FASTKD2:NM_014929:exon8:c.C1555A:p.L519I,FASTKD2:NM_001136194:exon8:c.C1555A:p.L519I,FASTKD2:NM_001136193:exon8:c.C1555A:p.L519I, chr2 207651584 207651584 C A het . 33 +line6038 nonsynonymous SNV C2orf80:NM_001099334:exon7:c.A454G:p.S152G, chr2 209036712 209036712 T C het . 17 +line6053 nonsynonymous SNV PIKFYVE:NM_152671:exon10:c.C1322A:p.P441H,PIKFYVE:NM_015040:exon12:c.C1613A:p.P538H,PIKFYVE:NM_001178000:exon12:c.C1613A:p.P538H, chr2 209169714 209169714 C A het . 43 +line6054 synonymous SNV PIKFYVE:NM_015040:exon15:c.C1923A:p.V641V, chr2 209180013 209180013 C A het . 32 +line6059 synonymous SNV PIKFYVE:NM_015040:exon37:c.A5526G:p.E1842E, chr2 209215586 209215586 A G het . 30 +line6060 synonymous SNV PIKFYVE:NM_015040:exon37:c.C5550A:p.S1850S, chr2 209215610 209215610 C A het . 33 +line6075 nonsynonymous SNV MAP2:NM_002374:exon7:c.C1861A:p.Q621K,MAP2:NM_001363911:exon7:c.C1849A:p.Q617K,MAP2:NM_001363910:exon8:c.C1849A:p.Q617K, chr2 210558755 210558755 C A het . 14 +line6091 synonymous SNV CPS1:NM_001122634:exon4:c.T90A:p.T30T,CPS1:NM_001122633:exon15:c.T1461A:p.T487T,CPS1:NM_001875:exon14:c.T1443A:p.T481T, chr2 211464179 211464179 T A het . 25 +line6127 nonsynonymous SNV SPAG16:NM_024532:exon10:c.A1037T:p.N346I, chr2 214354781 214354781 A T het . 26 +line6162 nonsynonymous SNV ABCA12:NM_173076:exon24:c.G3556T:p.A1186S,ABCA12:NM_015657:exon16:c.G2602T:p.A868S, chr2 215855494 215855494 C A het . 39 +line6164 nonsynonymous SNV ABCA12:NM_173076:exon16:c.G2065T:p.D689Y,ABCA12:NM_015657:exon8:c.G1111T:p.D371Y, chr2 215876751 215876751 C A het . 38 +line6195 synonymous SNV XRCC5:NM_021141:exon8:c.G822A:p.K274K, chr2 216992282 216992282 G A het . 28 +line6196 nonsynonymous SNV XRCC5:NM_021141:exon10:c.T1064A:p.F355Y, chr2 216997061 216997061 T A het . 43 +line6200 nonsynonymous SNV MARCH4:NM_020814:exon4:c.G940T:p.V314L, chr2 217124328 217124328 C A het . 33 +line6201 nonsynonymous SNV SMARCAL1:NM_014140:exon3:c.C767T:p.A256V,SMARCAL1:NM_001127207:exon3:c.C767T:p.A256V, chr2 217280194 217280194 C T het . 41 +line6255 synonymous SNV STK36:NM_015690:exon11:c.G1323A:p.L441L,STK36:NM_001243313:exon11:c.G1323A:p.L441L, chr2 219549894 219549894 G A het . 27 +line6256 synonymous SNV PRKAG3:NM_017431:exon13:c.G1434T:p.V478V, chr2 219688521 219688521 C A het . 29 +line6259 nonsynonymous SNV WNT10A:NM_025216:exon3:c.T400C:p.Y134H, chr2 219754729 219754729 T C het . 29 +line6261 synonymous SNV CFAP65:NM_194302:exon3:c.G48A:p.V16V, chr2 219903723 219903723 C T het . 17 +line6264 nonsynonymous SNV RETREG2:NM_001321110:exon8:c.G500A:p.R167H,RETREG2:NM_001321109:exon9:c.G500A:p.R167H,RETREG2:NM_024293:exon9:c.G1121A:p.R374H, chr2 220046840 220046840 G A het . 30 +line6265 nonsynonymous SNV RETREG2:NM_001321110:exon8:c.C635A:p.P212Q,RETREG2:NM_001321109:exon9:c.C635A:p.P212Q,RETREG2:NM_024293:exon9:c.C1256A:p.P419Q, chr2 220046975 220046975 C A het . 16 +line6270 nonsynonymous SNV ABCB6:NM_005689:exon3:c.C826T:p.R276W,ABCB6:NM_001349828:exon2:c.C688T:p.R230W, chr2 220081416 220081416 G A het . 17 +line6271 nonsynonymous SNV ANKZF1:NM_018089:exon13:c.C2027T:p.P676L,ANKZF1:NM_001042410:exon13:c.C2027T:p.P676L,ANKZF1:NM_001282792:exon10:c.C1397T:p.P466L, chr2 220100787 220100787 C T het . 23 +line6272 stopgain GLB1L:NM_001286423:exon15:c.C1348T:p.Q450X,GLB1L:NM_024506:exon15:c.C1348T:p.Q450X,GLB1L:NM_001286427:exon12:c.C1078T:p.Q360X, chr2 220102673 220102673 G A het . 21 +line6273 nonsynonymous SNV STK16:NM_001330214:exon3:c.C314A:p.T105K,STK16:NM_001008910:exon4:c.C314A:p.T105K,STK16:NM_001330213:exon4:c.C314A:p.T105K, chr2 220111842 220111842 C A het . 15 +line6287 synonymous SNV DES:NM_001927:exon5:c.G1014C:p.L338L, chr2 220285666 220285666 G C het . 28 +line6288 synonymous SNV SPEG:NM_005876:exon4:c.A969C:p.G323G, chr2 220312849 220312849 A C het . 11 +line6289 nonsynonymous SNV SPEG:NM_005876:exon4:c.A991C:p.T331P, chr2 220312871 220312871 A C het . 12 +line6292 synonymous SNV SPEG:NM_005876:exon37:c.C9033T:p.Y3011Y, chr2 220355242 220355242 C T het . 14 +line6294 nonsynonymous SNV GMPPA:NM_205847:exon12:c.A1076C:p.D359A,GMPPA:NM_013335:exon12:c.A1076C:p.D359A, chr2 220371058 220371058 A C het . 7 +line6295 synonymous SNV TMEM198:NM_001005209:exon4:c.C885T:p.D295D,TMEM198:NM_001303098:exon5:c.C885T:p.D295D, chr2 220414016 220414016 C T het . 21 +line6296 synonymous SNV TMEM198:NM_001005209:exon4:c.T888C:p.P296P,TMEM198:NM_001303098:exon5:c.T888C:p.P296P, chr2 220414019 220414019 T C het . 21 +line6297 synonymous SNV OBSL1:NM_015311:exon1:c.T921C:p.L307L,OBSL1:NM_001173408:exon1:c.T921C:p.L307L,OBSL1:NM_001173431:exon1:c.T921C:p.L307L, chr2 220435034 220435034 A G het . 14 +line6299 synonymous SNV INHA:NM_002191:exon2:c.C309A:p.A103A, chr2 220439456 220439456 C A het . 14 +line6300 nonsynonymous SNV INHA:NM_002191:exon2:c.C1009A:p.P337T, chr2 220440156 220440156 C A het . 13 +line6304 nonsynonymous SNV SLC4A3:NM_005070:exon17:c.A2600C:p.D867A,SLC4A3:NM_001326559:exon17:c.A2681C:p.D894A,SLC4A3:NM_201574:exon17:c.A2681C:p.D894A, chr2 220502367 220502367 A C het . 6 +line6345 nonsynonymous SNV FARSB:NM_005687:exon17:c.G1636T:p.G546W, chr2 223436724 223436724 C A het . 12 +line6366 nonsynonymous SNV KCNE4:NM_080671:exon2:c.T588G:p.D196E, chr2 223917983 223917983 T G het . 24 +line6394 nonsynonymous SNV CUL3:NM_003590:exon5:c.G556T:p.A186S,CUL3:NM_001257198:exon5:c.G574T:p.A192S,CUL3:NM_001257197:exon4:c.G358T:p.A120S, chr2 225378339 225378339 C A het . 36 +line6399 nonsynonymous SNV DOCK10:NM_001363762:exon23:c.T2668C:p.S890P,DOCK10:NM_014689:exon23:c.T2629C:p.S877P,DOCK10:NM_001290263:exon23:c.T2611C:p.S871P, chr2 225706553 225706553 A G het . 42 +line6400 nonsynonymous SNV DOCK10:NM_001363762:exon21:c.G2407T:p.A803S,DOCK10:NM_014689:exon21:c.G2368T:p.A790S,DOCK10:NM_001290263:exon21:c.G2350T:p.A784S, chr2 225710033 225710033 C A het . 20 +line6414 synonymous SNV COL4A4:NM_000092:exon42:c.G4080A:p.P1360P, chr2 227892619 227892619 C T het . 29 +line6420 nonsynonymous SNV COL4A4:NM_000092:exon22:c.C1510A:p.P504T, chr2 227953482 227953482 G T het . 26 +line6441 nonsynonymous SNV SPHKAP:NM_030623:exon7:c.G2123T:p.S708I,SPHKAP:NM_001142644:exon7:c.G2123T:p.S708I, chr2 228883447 228883447 C A het . 22 +line6442 nonsynonymous SNV SPHKAP:NM_030623:exon7:c.G1332T:p.W444C,SPHKAP:NM_001142644:exon7:c.G1332T:p.W444C, chr2 228884238 228884238 C A het . 35 +line6454 nonframeshift deletion DNER:NM_139072:exon2:c.346_348del:p.116_116del, chr2 230456533 230456535 GCT - het . 9 +line6483 nonframeshift substitution ARMC9:NM_001352759:exon6:c.538_539GA,ARMC9:NM_025139:exon6:c.538_539GA,ARMC9:NM_001352757:exon6:c.538_539GA,ARMC9:NM_001291656:exon6:c.538_539GA,ARMC9:NM_001352758:exon6:c.538_539GA,ARMC9:NM_001352756:exon6:c.538_539GA,ARMC9:NM_001352755:exon6:c.538_539GA, chr2 232087474 232087475 AT GA het . 23 +line6489 nonsynonymous SNV NCL:NM_005381:exon5:c.G813T:p.E271D, chr2 232325274 232325274 C A het . 27 +line6494 synonymous SNV TEX44:NM_152614:exon1:c.C477A:p.T159T, chr2 232458139 232458139 C A het . 21 +line6513 nonframeshift deletion GIGYF2:NM_001103148:exon21:c.2709_2711del:p.903_904del,GIGYF2:NM_015575:exon24:c.2727_2729del:p.909_910del,GIGYF2:NM_001103147:exon24:c.2790_2792del:p.930_931del,GIGYF2:NM_001103146:exon22:c.2727_2729del:p.909_910del, chr2 233697764 233697766 GCA - het . 30 +line6514 nonframeshift deletion GIGYF2:NM_001103148:exon26:c.3612_3614del:p.1204_1205del,GIGYF2:NM_015575:exon29:c.3630_3632del:p.1210_1211del,GIGYF2:NM_001103147:exon29:c.3693_3695del:p.1231_1232del,GIGYF2:NM_001103146:exon27:c.3630_3632del:p.1210_1211del, chr2 233712227 233712229 ACA - het . 25 +line6530 nonsynonymous SNV UGT1A10:NM_019075:exon1:c.G691A:p.A231T, chr2 234545859 234545859 G A het . 30 +line6531 nonsynonymous SNV UGT1A7:NM_019077:exon1:c.T387G:p.N129K, chr2 234590970 234590970 T G het . 16 +line6532 nonframeshift substitution UGT1A7:NM_019077:exon1:c.391_392AA, chr2 234590974 234590975 CG AA het . 15 +line6535 nonsynonymous SNV DNAJB3:NM_001001394:exon1:c.A232G:p.T78A, chr2 234652331 234652331 T C het . 22 +line6562 nonsynonymous SNV COL6A3:NM_057167:exon9:c.G3710T:p.S1237I,COL6A3:NM_004369:exon10:c.G4328T:p.S1443I,COL6A3:NM_057166:exon7:c.G2507T:p.S836I, chr2 238277778 238277778 C A het . 21 +line6563 nonsynonymous SNV MLPH:NM_001042467:exon3:c.C209A:p.P70H,MLPH:NM_001281473:exon3:c.C209A:p.P70H,MLPH:NM_001281474:exon4:c.C209A:p.P70H,MLPH:NM_024101:exon3:c.C209A:p.P70H, chr2 238419315 238419315 C A het . 44 +line6564 nonsynonymous SNV MLPH:NM_001042467:exon5:c.G479A:p.G160E,MLPH:NM_001281473:exon5:c.G479A:p.G160E,MLPH:NM_001281474:exon6:c.G479A:p.G160E,MLPH:NM_024101:exon5:c.G479A:p.G160E, chr2 238427215 238427215 G A het . 30 +line6566 nonsynonymous SNV LRRFIP1:NM_001137550:exon9:c.G488T:p.R163L, chr2 238642460 238642460 G T het . 9 +line6591 nonsynonymous SNV NDUFA10:NM_004544:exon6:c.G712A:p.E238K,NDUFA10:NM_001322020:exon6:c.G712A:p.E238K,NDUFA10:NM_001322019:exon6:c.G712A:p.E238K, chr2 240951071 240951071 C T het . 33 +line6598 synonymous SNV GPC1:NM_002081:exon3:c.C459T:p.R153R, chr2 241401741 241401741 C T het . 9 +line6604 nonsynonymous SNV GPR35:NM_001195382:exon6:c.A973C:p.S325R,GPR35:NM_001195381:exon6:c.A973C:p.S325R,GPR35:NM_005301:exon2:c.A880C:p.S294R, chr2 241570249 241570249 A C het . 7 +line6605 synonymous SNV GPR35:NM_001195382:exon6:c.C1008T:p.C336C,GPR35:NM_001195381:exon6:c.C1008T:p.C336C,GPR35:NM_005301:exon2:c.C915T:p.C305C, chr2 241570284 241570284 C T het . 8 +line6606 nonframeshift deletion KIF1A:NM_001244008:exon27:c.2751_2753del:p.917_918del, chr2 241696841 241696843 TCC - het . 5 +line6609 nonsynonymous SNV SNED1:NM_001080437:exon25:c.C3659T:p.P1220L, chr2 242011060 242011060 C T het . 20 +line6620 synonymous SNV THAP4:NM_015963:exon2:c.C234T:p.P78P, chr2 242573338 242573338 G A het . 11 +line6623 synonymous SNV ING5:NM_032329:exon3:c.G222A:p.K74K,ING5:NM_001330161:exon4:c.G228A:p.K76K,ING5:NM_001330162:exon3:c.G222A:p.K74K, chr2 242648743 242648743 G A het . 5 +line6627 synonymous SNV RTP5:NM_173821:exon2:c.C576T:p.G192G, chr2 242814283 242814283 C T het . 8 +line6676 nonsynonymous SNV CRBN:NM_001173482:exon6:c.C746A:p.A249D,CRBN:NM_016302:exon6:c.C749A:p.A250D, chr3 3197904 3197904 G T het . 35 +line6695 stopgain ITPR1:NM_001168272:exon6:c.C364T:p.Q122X,ITPR1:NM_002222:exon6:c.C364T:p.Q122X,ITPR1:NM_001099952:exon6:c.C364T:p.Q122X, chr3 4681152 4681152 C T het . 9 +line6749 nonsynonymous SNV SETD5:NM_001080517:exon23:c.A3848C:p.N1283T,SETD5:NM_001292043:exon25:c.A3554C:p.N1185T,SETD5:NM_001349451:exon26:c.A3554C:p.N1185T, chr3 9517294 9517294 A C het . 27 +line6752 nonsynonymous SNV CIDEC:NM_022094:exon3:c.G123T:p.R41S,CIDEC:NM_001199552:exon3:c.G123T:p.R41S,CIDEC:NM_001199623:exon3:c.G162T:p.R54S,CIDEC:NM_001321142:exon4:c.G123T:p.R41S,CIDEC:NM_001199551:exon3:c.G123T:p.R41S, chr3 9918834 9918834 C A het . 22 +line6755 nonsynonymous SNV IL17RC:NM_032732:exon10:c.A875G:p.Q292R,IL17RC:NM_153461:exon11:c.A1133G:p.Q378R,IL17RC:NM_153460:exon11:c.A920G:p.Q307R,IL17RC:NM_001203263:exon11:c.A920G:p.Q307R,IL17RC:NM_001203264:exon11:c.A920G:p.Q307R,IL17RC:NM_001203265:exon10:c.A875G:p.Q292R, chr3 9970031 9970031 A G het . 2 +line6756 nonsynonymous SNV IL17RC:NM_032732:exon10:c.G907A:p.A303T,IL17RC:NM_153461:exon11:c.G1165A:p.A389T,IL17RC:NM_153460:exon11:c.G952A:p.A318T,IL17RC:NM_001203263:exon11:c.G952A:p.A318T,IL17RC:NM_001203264:exon11:c.G952A:p.A318T,IL17RC:NM_001203265:exon10:c.G907A:p.A303T, chr3 9970063 9970063 G A het . 3 +line6757 synonymous SNV IL17RC:NM_032732:exon18:c.C2088G:p.G696G,IL17RC:NM_153461:exon19:c.C2346G:p.G782G,IL17RC:NM_153460:exon19:c.C2133G:p.G711G,IL17RC:NM_001203263:exon18:c.C2094G:p.G698G,IL17RC:NM_001203264:exon17:c.C2043G:p.G681G,IL17RC:NM_001203265:exon17:c.C2037G:p.G679G, chr3 9975247 9975247 C G het . 4 +line6769 nonsynonymous SNV SEC13:NM_001278946:exon5:c.G473A:p.R158H, chr3 10353626 10353626 C T het . 7 +line6793 unknown UNKNOWN chr3 12046076 12046076 T C het . 3 +line6799 nonsynonymous SNV MKRN2OS:NM_001195279:exon4:c.C593A:p.A198E, chr3 12581771 12581771 G T het . 30 +line6800 synonymous SNV MKRN2:NM_014160:exon2:c.C49A:p.R17R, chr3 12610396 12610396 C A het . 19 +line6803 nonsynonymous SNV TMEM40:NM_001284406:exon1:c.G7A:p.E3K, chr3 12810783 12810783 C T het . 11 +line6822 nonsynonymous SNV XPC:NM_001354729:exon16:c.C2797A:p.Q933K,XPC:NM_004628:exon16:c.C2815A:p.Q939K,XPC:NM_001354730:exon16:c.C2569A:p.Q857K,XPC:NM_001354726:exon15:c.C2236A:p.Q746K,XPC:NM_001354727:exon16:c.C2809A:p.Q937K, chr3 14187449 14187449 G T het . 8 +line6851 nonsynonymous SNV RFTN1:NM_015150:exon5:c.G742A:p.E248K, chr3 16419309 16419309 C T het . 5 +line6860 nonsynonymous SNV TBC1D5:NM_001349084:exon18:c.G1246T:p.G416W,TBC1D5:NM_001134381:exon19:c.G1654T:p.G552W,TBC1D5:NM_001349075:exon18:c.G1654T:p.G552W,TBC1D5:NM_001349085:exon18:c.G1246T:p.G416W,TBC1D5:NM_001349073:exon17:c.G1654T:p.G552W,TBC1D5:NM_001349083:exon17:c.G1246T:p.G416W,TBC1D5:NM_001349082:exon18:c.G1246T:p.G416W,TBC1D5:NM_001349086:exon16:c.G1246T:p.G416W,TBC1D5:NM_001349074:exon18:c.G1654T:p.G552W, chr3 17275177 17275177 C A het . 36 +line6867 nonsynonymous SNV SATB1:NM_001322876:exon10:c.G1780T:p.V594L,SATB1:NM_001131010:exon11:c.G1996T:p.V666L,SATB1:NM_001322874:exon11:c.G1996T:p.V666L,SATB1:NM_001322871:exon12:c.G2092T:p.V698L,SATB1:NM_001322872:exon12:c.G1996T:p.V666L,SATB1:NM_001195470:exon12:c.G2092T:p.V698L,SATB1:NM_001322873:exon11:c.G1996T:p.V666L,SATB1:NM_001322875:exon11:c.G1996T:p.V666L,SATB1:NM_002971:exon11:c.G1996T:p.V666L, chr3 18390958 18390958 C A het . 16 +line6868 nonframeshift deletion SATB1:NM_001322876:exon10:c.1603_1605del:p.535_535del,SATB1:NM_001131010:exon11:c.1819_1821del:p.607_607del,SATB1:NM_001322874:exon11:c.1819_1821del:p.607_607del,SATB1:NM_001322871:exon12:c.1915_1917del:p.639_639del,SATB1:NM_001322872:exon12:c.1819_1821del:p.607_607del,SATB1:NM_001195470:exon12:c.1915_1917del:p.639_639del,SATB1:NM_001322873:exon11:c.1819_1821del:p.607_607del,SATB1:NM_001322875:exon11:c.1819_1821del:p.607_607del,SATB1:NM_002971:exon11:c.1819_1821del:p.607_607del, chr3 18391133 18391135 CTG - het . 12 +line6874 nonsynonymous SNV KCNH8:NM_144633:exon16:c.C2635A:p.Q879K, chr3 19574902 19574902 C A het . 10 +line6875 nonsynonymous SNV KCNH8:NM_144633:exon16:c.C3136A:p.L1046I, chr3 19575403 19575403 C A het . 24 +line6879 nonsynonymous SNV PP2D1:NM_001252657:exon2:c.A125T:p.K42M, chr3 20043487 20043487 T A het . 28 +line6893 nonsynonymous SNV ZNF385D:NM_024697:exon3:c.C249A:p.N83K, chr3 21606093 21606093 G T het . 16 +line6971 synonymous SNV CMTM8:NM_001320308:exon2:c.C192T:p.A64A,CMTM8:NM_178868:exon3:c.C366T:p.A122A, chr3 32409408 32409408 C T het . 15 +line6984 nonsynonymous SNV CCR4:NM_005508:exon2:c.C777A:p.N259K, chr3 32995691 32995691 C A het . 20 +line6989 nonsynonymous SNV SUSD5:NM_015551:exon2:c.T118C:p.F40L, chr3 33255592 33255592 A G het . 3 +line6995 synonymous SNV PDCD6IP:NM_001162429:exon3:c.C297T:p.F99F,PDCD6IP:NM_001256192:exon3:c.C297T:p.F99F,PDCD6IP:NM_013374:exon3:c.C297T:p.F99F, chr3 33855083 33855083 C T het . 19 +line7032 nonsynonymous SNV MYD88:NM_002468:exon2:c.G415C:p.E139Q,MYD88:NM_001172569:exon2:c.G415C:p.E139Q,MYD88:NM_001172567:exon2:c.G415C:p.E139Q, chr3 38181402 38181402 G C het . 17 +line7035 nonsynonymous SNV SLC22A14:NM_004803:exon1:c.G268A:p.V90M,SLC22A14:NM_001320033:exon2:c.G268A:p.V90M, chr3 38347785 38347785 G A het . 13 +line7045 nonsynonymous SNV TTC21A:NM_145755:exon18:c.C2360A:p.A787D,TTC21A:NM_001105513:exon17:c.C2216A:p.A739D, chr3 39172211 39172211 C A het . 15 +line7046 synonymous SNV CSRNP1:NM_001320559:exon5:c.T1128C:p.S376S,CSRNP1:NM_001320560:exon5:c.T1068C:p.S356S,CSRNP1:NM_033027:exon5:c.T1068C:p.S356S, chr3 39185248 39185248 A G het . 29 +line7063 stopgain ZNF620:NM_001256167:exon3:c.C368A:p.S123X,ZNF620:NM_175888:exon5:c.C710A:p.S237X,ZNF620:NM_001256168:exon3:c.C368A:p.S123X, chr3 40557795 40557795 C A het . 27 +line7070 nonsynonymous SNV CTNNB1:NM_001098210:exon5:c.C558A:p.H186Q,CTNNB1:NM_001904:exon5:c.C558A:p.H186Q,CTNNB1:NM_001330729:exon6:c.C537A:p.H179Q,CTNNB1:NM_001098209:exon5:c.C558A:p.H186Q, chr3 41266887 41266887 C A het . 28 +line7086 frameshift deletion VIPR1:NM_004624:exon2:c.87delG:p.Q29fs, chr3 42555249 42555249 G - het . 6 +line7088 nonframeshift deletion NKTR:NM_005385:exon13:c.3073_3075del:p.1025_1025del,NKTR:NM_001349124:exon13:c.3073_3075del:p.1025_1025del,NKTR:NM_001349126:exon15:c.1969_1971del:p.657_657del,NKTR:NM_001349125:exon15:c.2314_2316del:p.772_772del, chr3 42680269 42680271 GAG - het . 35 +line7089 synonymous SNV ZBTB47:NM_145166:exon2:c.A870G:p.E290E, chr3 42700717 42700717 A G het . 7 +line7090 nonsynonymous SNV CCDC13:NM_144719:exon4:c.G400T:p.A134S, chr3 42794180 42794180 C A het . 20 +line7100 synonymous SNV TOPAZ1:NM_001145030:exon2:c.A1422G:p.A474A, chr3 44285420 44285420 A G het . 21 +line7103 nonsynonymous SNV ZKSCAN7:NM_001288591:exon3:c.T458C:p.F153S,ZKSCAN7:NM_025169:exon3:c.T458C:p.F153S,ZKSCAN7:NM_001288592:exon2:c.T8C:p.F3S,ZKSCAN7:NM_018651:exon3:c.T458C:p.F153S,ZKSCAN7:NM_001288590:exon3:c.T458C:p.F153S, chr3 44607013 44607013 T C het . 2 +line7107 nonsynonymous SNV ZNF660:NM_173658:exon3:c.C218A:p.T73K, chr3 44635903 44635903 C A het . 12 +line7109 nonsynonymous SNV ZNF197:NM_006991:exon6:c.C1050A:p.S350R,ZNF660-ZNF197:NM_001351732:exon7:c.C1050A:p.S350R,ZNF197:NM_001323293:exon6:c.C1050A:p.S350R,ZNF660-ZNF197:NM_001351733:exon7:c.C1050A:p.S350R,ZNF197:NM_001323296:exon5:c.C411A:p.S137R,ZNF197:NM_001323295:exon7:c.C441A:p.S147R, chr3 44683672 44683672 C A het . 27 +line7110 nonsynonymous SNV ZNF35:NM_003420:exon4:c.C1263A:p.S421R, chr3 44701118 44701118 C A het . 13 +line7112 nonsynonymous SNV ZNF502:NM_001134440:exon4:c.A728C:p.E243A,ZNF502:NM_001134441:exon3:c.A728C:p.E243A,ZNF502:NM_001134442:exon3:c.A728C:p.E243A,ZNF502:NM_033210:exon4:c.A728C:p.E243A,ZNF502:NM_001282880:exon5:c.A728C:p.E243A, chr3 44763037 44763037 A C het . 21 +line7113 nonsynonymous SNV ZNF502:NM_001134440:exon4:c.C1105A:p.H369N,ZNF502:NM_001134441:exon3:c.C1105A:p.H369N,ZNF502:NM_001134442:exon3:c.C1105A:p.H369N,ZNF502:NM_033210:exon4:c.C1105A:p.H369N,ZNF502:NM_001282880:exon5:c.C1105A:p.H369N, chr3 44763414 44763414 C A het . 18 +line7122 synonymous SNV LIMD1:NM_014240:exon1:c.C882T:p.T294T, chr3 45637253 45637253 C T het . 9 +line7139 nonframeshift deletion TMIE:NM_147196:exon4:c.367_369del:p.123_123del, chr3 46751074 46751076 AAG - het . 28 +line7142 synonymous SNV NBEAL2:NM_015175:exon37:c.C6054G:p.P2018P,NBEAL2:NM_001365116:exon36:c.C5952G:p.P1984P, chr3 47045739 47045739 C G het . 8 +line7149 synonymous SNV PTPN23:NM_001304482:exon11:c.T609C:p.T203T,PTPN23:NM_015466:exon12:c.T987C:p.T329T, chr3 47449058 47449058 T C het . 14 +line7151 synonymous SNV PTPN23:NM_001304482:exon24:c.G4257A:p.P1419P,PTPN23:NM_015466:exon25:c.G4635A:p.P1545P, chr3 47454399 47454399 G A het . 2 +line7170 nonsynonymous SNV PLXNB1:NM_001130082:exon11:c.C2676G:p.D892E,PLXNB1:NM_002673:exon11:c.C2676G:p.D892E, chr3 48461019 48461019 G C het . 6 +line7173 nonsynonymous SNV COL7A1:NM_000094:exon86:c.G6790T:p.A2264S, chr3 48610336 48610336 C A het . 31 +line7179 synonymous SNV ARIH2OS:NM_001123040:exon1:c.G495T:p.A165A, chr3 48956088 48956088 C A het . 38 +line7180 nonframeshift deletion ARIH2:NM_001349210:exon5:c.73_75del:p.25_25del,ARIH2:NM_001349229:exon3:c.73_75del:p.25_25del,ARIH2:NM_001349230:exon5:c.73_75del:p.25_25del,ARIH2:NM_001349213:exon4:c.73_75del:p.25_25del,ARIH2:NM_001349215:exon3:c.73_75del:p.25_25del,ARIH2:NM_001349211:exon2:c.73_75del:p.25_25del,ARIH2:NM_006321:exon3:c.73_75del:p.25_25del,ARIH2:NM_001349228:exon4:c.73_75del:p.25_25del,ARIH2:NM_001349209:exon3:c.73_75del:p.25_25del,ARIH2:NM_001317333:exon4:c.73_75del:p.25_25del,ARIH2:NM_001349214:exon3:c.73_75del:p.25_25del, chr3 48965064 48965066 GAA - het . 35 +line7181 nonsynonymous SNV ARIH2:NM_001349210:exon5:c.A92C:p.D31A,ARIH2:NM_001349229:exon3:c.A92C:p.D31A,ARIH2:NM_001349230:exon5:c.A92C:p.D31A,ARIH2:NM_001349213:exon4:c.A92C:p.D31A,ARIH2:NM_001349215:exon3:c.A92C:p.D31A,ARIH2:NM_001349211:exon2:c.A92C:p.D31A,ARIH2:NM_006321:exon3:c.A92C:p.D31A,ARIH2:NM_001349228:exon4:c.A92C:p.D31A,ARIH2:NM_001349209:exon3:c.A92C:p.D31A,ARIH2:NM_001317333:exon4:c.A92C:p.D31A,ARIH2:NM_001349214:exon3:c.A92C:p.D31A, chr3 48965083 48965083 A C het . 38 +line7185 synonymous SNV USP19:NM_001351103:exon2:c.G39T:p.G13G,USP19:NM_001351098:exon2:c.G39T:p.G13G,USP19:NM_006677:exon2:c.G39T:p.G13G,USP19:NM_001351101:exon2:c.G39T:p.G13G,USP19:NM_001199161:exon2:c.G39T:p.G13G,USP19:NM_001351105:exon2:c.G39T:p.G13G,USP19:NM_001351104:exon2:c.G39T:p.G13G,USP19:NM_001351099:exon2:c.G39T:p.G13G,USP19:NM_001199160:exon2:c.G39T:p.G13G,USP19:NM_001351102:exon2:c.G39T:p.G13G,USP19:NM_001199162:exon2:c.G39T:p.G13G,USP19:NM_001351108:exon2:c.G39T:p.G13G,USP19:NM_001351106:exon2:c.G39T:p.G13G,USP19:NM_001351100:exon2:c.G39T:p.G13G,USP19:NM_001351107:exon2:c.G39T:p.G13G, chr3 49156540 49156540 C A het . 12 +line7186 nonsynonymous SNV CCDC71:NM_022903:exon2:c.T1015C:p.W339R, chr3 49200627 49200627 A G het . 6 +line7187 nonsynonymous SNV CCDC71:NM_022903:exon2:c.A950T:p.Q317L, chr3 49200692 49200692 T A het . 8 +line7193 synonymous SNV CDHR4:NM_001007540:exon12:c.C1581T:p.N527N, chr3 49831058 49831058 G A het . 12 +line7194 nonsynonymous SNV UBA7:NM_003335:exon18:c.A2282C:p.D761A, chr3 49846474 49846474 T G het . 15 +line7213 nonsynonymous SNV DOCK3:NM_004947:exon36:c.G3653C:p.G1218A, chr3 51375831 51375831 G C het . 14 +line7219 nonframeshift insertion RPL29:NM_000992:exon4:c.391_392insCCAAGG:p.D131delinsAKD, chr3 52027853 52027853 - CCTTGG het . 8 +line7220 nonsynonymous SNV TWF2:NM_007284:exon4:c.G331C:p.E111Q, chr3 52265507 52265507 C G het . 13 +line7222 synonymous SNV GLYCTK:NM_145262:exon3:c.G441A:p.P147P,GLYCTK:NM_001144951:exon3:c.G441A:p.P147P, chr3 52325039 52325039 G A het . 16 +line7226 synonymous SNV DNAH1:NM_015512:exon52:c.C8157A:p.I2719I, chr3 52417882 52417882 C A het . 6 +line7227 synonymous SNV BAP1:NM_004656:exon15:c.G1905T:p.L635L, chr3 52436873 52436873 C A het . 36 +line7229 nonsynonymous SNV NISCH:NM_007184:exon13:c.A1453C:p.I485L,NISCH:NM_001276293:exon13:c.A1453C:p.I485L,NISCH:NM_001276294:exon13:c.A1453C:p.I485L, chr3 52514236 52514236 A C het . 5 +line7230 nonsynonymous SNV NISCH:NM_007184:exon13:c.A1458C:p.R486S,NISCH:NM_001276293:exon13:c.A1458C:p.R486S,NISCH:NM_001276294:exon13:c.A1458C:p.R486S, chr3 52514241 52514241 A C het . 5 +line7231 nonsynonymous SNV NISCH:NM_007184:exon13:c.A1465C:p.S489R,NISCH:NM_001276293:exon13:c.A1465C:p.S489R,NISCH:NM_001276294:exon13:c.A1465C:p.S489R, chr3 52514248 52514248 A C het . 5 +line7246 synonymous SNV SFMBT1:NM_016329:exon18:c.G2073A:p.A691A, chr3 52941583 52941583 C T het . 15 +line7248 synonymous SNV TKT:NM_001258028:exon6:c.C489T:p.D163D,TKT:NM_001135055:exon5:c.C465T:p.D155D,TKT:NM_001064:exon5:c.C465T:p.D155D, chr3 53269163 53269163 G A het . 4 +line7257 nonsynonymous SNV CACNA1D:NM_001128840:exon40:c.C4898T:p.A1633V,CACNA1D:NM_000720:exon41:c.C4958T:p.A1653V,CACNA1D:NM_001128839:exon39:c.C4853T:p.A1618V, chr3 53820954 53820954 C T het . 26 +line7258 synonymous SNV CHDH:NM_018397:exon3:c.G360A:p.L120L, chr3 53857676 53857676 C T het . 11 +line7259 nonsynonymous SNV CHDH:NM_018397:exon3:c.T233G:p.L78R, chr3 53857803 53857803 A C het . 10 +line7260 nonsynonymous SNV IL17RB:NM_018725:exon7:c.C642A:p.S214R, chr3 53890983 53890983 C A het . 15 +line7281 nonsynonymous SNV ERC2:NM_015576:exon8:c.G1667T:p.R556M, chr3 56053034 56053034 C A het . 20 +line7285 nonsynonymous SNV ERC2:NM_015576:exon2:c.G608T:p.R203L, chr3 56468428 56468428 C A het . 7 +line7288 synonymous SNV CCDC66:NM_001353155:exon8:c.A966G:p.Q322Q,CCDC66:NM_001353154:exon8:c.A987G:p.Q329Q,CCDC66:NM_001353150:exon8:c.A987G:p.Q329Q,CCDC66:NM_001353152:exon9:c.A885G:p.Q295Q,CCDC66:NM_001353153:exon8:c.A885G:p.Q295Q,CCDC66:NM_001353147:exon8:c.A987G:p.Q329Q,CCDC66:NM_001141947:exon8:c.A987G:p.Q329Q,CCDC66:NM_001353156:exon9:c.A90G:p.Q30Q,CCDC66:NM_001353158:exon10:c.A90G:p.Q30Q,CCDC66:NM_001012506:exon8:c.A885G:p.Q295Q,CCDC66:NM_001353151:exon7:c.A888G:p.Q296Q,CCDC66:NM_001353149:exon8:c.A966G:p.Q322Q,CCDC66:NM_001353148:exon8:c.A987G:p.Q329Q, chr3 56627048 56627048 A G het . 28 +line7291 nonsynonymous SNV FAM208A:NM_001363940:exon2:c.G450T:p.L150F,FAM208A:NM_001112736:exon2:c.G450T:p.L150F, chr3 56707635 56707635 C A het . 20 +line7294 stopgain ARHGEF3:NM_001128615:exon13:c.G1486T:p.E496X,ARHGEF3:NM_019555:exon10:c.G1390T:p.E464X,ARHGEF3:NM_001128616:exon10:c.G1408T:p.E470X,ARHGEF3:NM_001289698:exon11:c.G1408T:p.E470X, chr3 56763489 56763489 C A het . 28 +line7300 unknown UNKNOWN chr3 57335885 57335885 C T het . 32 +line7309 nonsynonymous SNV PDE12:NM_177966:exon1:c.C167A:p.A56D,PDE12:NM_001322177:exon1:c.C167A:p.A56D,PDE12:NM_001322176:exon1:c.C167A:p.A56D, chr3 57542273 57542273 C A het . 14 +line7317 synonymous SNV FLNB:NM_001164319:exon20:c.C2904A:p.T968T,FLNB:NM_001164317:exon20:c.C2904A:p.T968T,FLNB:NM_001164318:exon20:c.C2904A:p.T968T,FLNB:NM_001457:exon20:c.C2904A:p.T968T, chr3 58107008 58107008 C A het . 27 +line7319 nonsynonymous SNV FLNB:NM_001164319:exon22:c.G3785C:p.G1262A,FLNB:NM_001164317:exon22:c.G3785C:p.G1262A,FLNB:NM_001164318:exon22:c.G3785C:p.G1262A,FLNB:NM_001457:exon22:c.G3785C:p.G1262A, chr3 58110119 58110119 G C het . 16 +line7357 synonymous SNV PTPRG:NM_002841:exon12:c.G1968C:p.T656T, chr3 62189437 62189437 G C het . 4 +line7362 synonymous SNV FEZF2:NM_018008:exon2:c.G525T:p.L175L, chr3 62358019 62358019 C A het . 13 +line7372 nonsynonymous SNV ATXN7:NM_001128149:exon8:c.C2005A:p.L669M,ATXN7:NM_000333:exon12:c.C2440A:p.L814M,ATXN7:NM_001177387:exon11:c.C2440A:p.L814M, chr3 63981938 63981938 C A het . 31 +line7466 nonsynonymous SNV ZNF717:NM_001290209:exon5:c.G1792A:p.V598I,ZNF717:NM_001290208:exon5:c.G1942A:p.V648I,ZNF717:NM_001324027:exon5:c.G1942A:p.V648I,ZNF717:NM_001128223:exon5:c.G1942A:p.V648I, chr3 75786832 75786832 C T het . 28 +line7467 synonymous SNV ZNF717:NM_001290209:exon5:c.C1791T:p.Y597Y,ZNF717:NM_001290208:exon5:c.C1941T:p.Y647Y,ZNF717:NM_001324027:exon5:c.C1941T:p.Y647Y,ZNF717:NM_001128223:exon5:c.C1941T:p.Y647Y, chr3 75786833 75786833 G A het . 28 +line7468 synonymous SNV ZNF717:NM_001290209:exon5:c.A1779G:p.G593G,ZNF717:NM_001290208:exon5:c.A1929G:p.G643G,ZNF717:NM_001324027:exon5:c.A1929G:p.G643G,ZNF717:NM_001128223:exon5:c.A1929G:p.G643G, chr3 75786845 75786845 T C het . 21 +line7541 nonsynonymous SNV STX19:NM_001001850:exon2:c.G666T:p.L222F, chr3 93733448 93733448 C A het . 36 +line7572 synonymous SNV EPHA6:NM_001278301:exon4:c.A1116C:p.G372G, chr3 96728849 96728849 A C het . 26 +line7575 synonymous SNV RIOX2:NM_032778:exon2:c.G279A:p.G93G,RIOX2:NM_001261829:exon2:c.G279A:p.G93G,RIOX2:NM_001042533:exon2:c.G279A:p.G93G,RIOX2:NM_153182:exon2:c.G279A:p.G93G, chr3 97686159 97686159 C T het . 32 +line7576 unknown UNKNOWN chr3 97731291 97731291 C A het . 27 +line7606 synonymous SNV LNP1:NM_001085451:exon3:c.A222G:p.Q74Q, chr3 100170628 100170628 A G het . 35 +line7607 synonymous SNV LNP1:NM_001085451:exon3:c.T228C:p.F76F, chr3 100170634 100170634 T C het . 35 +line7625 nonsynonymous SNV IMPG2:NM_016247:exon14:c.G3022T:p.G1008C, chr3 100961532 100961532 C A het . 23 +line7689 nonsynonymous SNV HHLA2:NM_001282559:exon6:c.C368A:p.T123K,HHLA2:NM_001282558:exon6:c.C560A:p.T187K,HHLA2:NM_007072:exon5:c.C560A:p.T187K,HHLA2:NM_001282557:exon5:c.C560A:p.T187K,HHLA2:NM_001282556:exon5:c.C560A:p.T187K, chr3 108074103 108074103 C A het . 32 +line7693 synonymous SNV MYH15:NM_014981:exon28:c.C3549T:p.F1183F, chr3 108147552 108147552 G A het . 18 +line7694 nonsynonymous SNV MYH15:NM_014981:exon28:c.A3373G:p.T1125A, chr3 108147728 108147728 T C het . 9 +line7703 synonymous SNV DZIP3:NM_014648:exon27:c.T2907C:p.P969P, chr3 108403086 108403086 T C het . 11 +line7708 nonsynonymous SNV GUCA1C:NM_001363884:exon2:c.G214A:p.V72I,GUCA1C:NM_005459:exon2:c.G214A:p.V72I, chr3 108639423 108639423 C T het . 8 +line7711 nonsynonymous SNV MORC1:NM_014429:exon15:c.T1408A:p.F470I, chr3 108754238 108754238 A T het . 24 +line7770 stopgain GTPBP8:NM_138485:exon3:c.A475T:p.R159X,GTPBP8:NM_014170:exon4:c.A574T:p.R192X, chr3 112715746 112715746 A T het . 14 +line7771 nonsynonymous SNV NEPRO:NM_001319109:exon4:c.G419T:p.R140M,NEPRO:NM_001319115:exon5:c.G338T:p.R113M,NEPRO:NM_001319114:exon5:c.G221T:p.R74M,NEPRO:NM_001319110:exon3:c.G128T:p.R43M,NEPRO:NM_015412:exon6:c.G629T:p.R210M,NEPRO:NM_001319112:exon5:c.G296T:p.R99M, chr3 112730176 112730176 C A het . 27 +line7778 nonsynonymous SNV CFAP44:NM_001164496:exon23:c.G3178T:p.A1060S, chr3 113063447 113063447 C A het . 21 +line7817 synonymous SNV ARHGAP31:NM_020754:exon2:c.C196A:p.R66R, chr3 119084258 119084258 C A het . 43 +line7823 synonymous SNV NR1I2:NM_033013:exon6:c.T768C:p.N256N,NR1I2:NM_003889:exon6:c.T879C:p.N293N,NR1I2:NM_022002:exon6:c.T996C:p.N332N, chr3 119533910 119533910 T C het . 33 +line7824 nonsynonymous SNV NR1I2:NM_033013:exon6:c.C796T:p.R266W,NR1I2:NM_003889:exon6:c.C907T:p.R303W,NR1I2:NM_022002:exon6:c.C1024T:p.R342W, chr3 119533938 119533938 C T het . 28 +line7838 nonsynonymous SNV GTF2E1:NM_005513:exon2:c.C374A:p.A125D, chr3 120469773 120469773 C A het . 31 +line7842 nonsynonymous SNV FBXO40:NM_016298:exon3:c.T260C:p.V87A, chr3 121340536 121340536 T C het . 9 +line7843 nonframeshift insertion HCLS1:NM_005335:exon12:c.1103_1104insTGAGCCTGAGCC:p.P368delinsPEPEP,HCLS1:NM_001292041:exon11:c.992_993insTGAGCCTGAGCC:p.P331delinsPEPEP, chr3 121351315 121351315 - GGCTCAGGCTCA het . 9 +line7849 nonsynonymous SNV IQCB1:NM_001319107:exon9:c.G836T:p.G279V,IQCB1:NM_001023570:exon9:c.G836T:p.G279V, chr3 121516005 121516005 C A het . 44 +line7851 nonsynonymous SNV EAF2:NM_001320041:exon4:c.G254A:p.G85E,EAF2:NM_018456:exon5:c.G644A:p.G215E, chr3 121591543 121591543 G A het . 24 +line7858 nonsynonymous SNV CASR:NM_001178065:exon3:c.C406T:p.P136S,CASR:NM_000388:exon3:c.C406T:p.P136S, chr3 121976148 121976148 C T het . 29 +line7860 nonsynonymous SNV CASR:NM_001178065:exon4:c.G502A:p.A168T,CASR:NM_000388:exon4:c.G502A:p.A168T, chr3 121980384 121980384 G A het . 29 +line7862 synonymous SNV CASR:NM_001178065:exon7:c.G2268A:p.A756A,CASR:NM_000388:exon7:c.G2238A:p.A746A, chr3 122003039 122003039 G A het . 13 +line7863 synonymous SNV CASR:NM_001178065:exon7:c.G2274C:p.P758P,CASR:NM_000388:exon7:c.G2244C:p.P748P, chr3 122003045 122003045 G C het . 14 +line7894 synonymous SNV MYLK:NM_053025:exon28:c.G4764A:p.P1588P,MYLK:NM_053027:exon28:c.G4764A:p.P1588P,MYLK:NM_053026:exon27:c.G4557A:p.P1519P,MYLK:NM_053028:exon27:c.G4557A:p.P1519P,MYLK:NM_001321309:exon27:c.G4236A:p.P1412P, chr3 123359207 123359207 C T het . 31 +line7921 nonsynonymous SNV MUC13:NM_033049:exon2:c.T296C:p.I99T, chr3 124646594 124646594 A G het . 30 +line7937 nonsynonymous SNV PLXNA1:NM_032242:exon14:c.C3011T:p.S1004F, chr3 126734160 126734160 C T het . 4 +line7941 synonymous SNV MCM2:NM_004526:exon14:c.C2370T:p.D790D, chr3 127339645 127339645 C T het . 6 +line7949 synonymous SNV DNAJB8:NM_153330:exon3:c.G552A:p.S184S, chr3 128181537 128181537 C T het . 17 +line7964 frameshift deletion MBD4:NM_001276270:exon3:c.939delA:p.K313fs,MBD4:NM_001276271:exon3:c.939delA:p.K313fs,MBD4:NM_003925:exon3:c.939delA:p.K313fs,MBD4:NM_001276272:exon3:c.939delA:p.K313fs, chr3 129155548 129155548 T - het . 41 +line7965 synonymous SNV PLXND1:NM_015103:exon1:c.T1290C:p.C430C, chr3 129324193 129324193 A G het . 5 +line7966 synonymous SNV PLXND1:NM_015103:exon1:c.C780G:p.S260S, chr3 129324703 129324703 G C het . 16 +line8006 nonsynonymous SNV TOPBP1:NM_001363889:exon24:c.T4012C:p.F1338L,TOPBP1:NM_007027:exon24:c.T4027C:p.F1343L, chr3 133331241 133331241 A G het . 6 +line8025 synonymous SNV PPP2R3A:NM_002718:exon2:c.C396A:p.L132L, chr3 135720736 135720736 C A het . 23 +line8039 nonsynonymous SNV DZIP1L:NM_173543:exon13:c.A1633G:p.T545A, chr3 137787192 137787192 T C het . 2 +line8042 synonymous SNV DBR1:NM_016216:exon8:c.C1623T:p.D541D, chr3 137880743 137880743 G A het . 10 +line8044 nonframeshift deletion MRAS:NM_001085049:exon6:c.551_553del:p.184_185del,MRAS:NM_001252093:exon5:c.323_325del:p.108_109del,MRAS:NM_001252092:exon5:c.323_325del:p.108_109del,MRAS:NM_001252091:exon5:c.323_325del:p.108_109del,MRAS:NM_001252090:exon6:c.551_553del:p.184_185del,MRAS:NM_012219:exon6:c.551_553del:p.184_185del, chr3 138121035 138121037 AGA - het . 22 +line8050 nonsynonymous SNV PIK3CB:NM_006219:exon20:c.G2942T:p.R981L,PIK3CB:NM_001256045:exon11:c.G1478T:p.R493L, chr3 138376532 138376532 C A het . 15 +line8055 nonsynonymous SNV PRR23B:NM_001013650:exon1:c.G358T:p.A120S, chr3 138739146 138739146 C A het . 20 +line8084 synonymous SNV ATR:NM_001354579:exon7:c.T1584A:p.G528G,ATR:NM_001184:exon8:c.T1776A:p.G592G, chr3 142277575 142277575 A T het . 20 +line8132 nonsynonymous SNV ZIC4:NM_032153:exon3:c.G295C:p.G99R,ZIC4:NM_001168379:exon3:c.G409C:p.G137R,ZIC4:NM_001168378:exon3:c.G445C:p.G149R, chr3 147114032 147114032 C G het . 18 +line8137 nonsynonymous SNV CPB1:NM_001871:exon7:c.C677A:p.T226N, chr3 148562365 148562365 C A het . 13 +line8174 nonsynonymous SNV IGSF10:NM_001178145:exon2:c.G1021T:p.V341L,IGSF10:NM_001178146:exon2:c.G877T:p.V293L,IGSF10:NM_178822:exon6:c.G6940T:p.V2314L, chr3 151155409 151155409 C A het . 25 +line8175 nonsynonymous SNV IGSF10:NM_178822:exon3:c.T448G:p.Y150D, chr3 151171439 151171439 A C het . 29 +line8176 nonsynonymous SNV IGSF10:NM_178822:exon3:c.G398A:p.R133Q, chr3 151171489 151171489 C T het . 14 +line8198 nonsynonymous SNV GPR149:NM_001038705:exon4:c.G1792T:p.G598C, chr3 154055892 154055892 C A het . 27 +line8210 nonsynonymous SNV GMPS:NM_003875:exon13:c.C1570A:p.R524S, chr3 155649563 155649563 C A het . 15 +line8238 stopgain GFM1:NM_024996:exon5:c.C604T:p.Q202X,GFM1:NM_001308166:exon5:c.C604T:p.Q202X,GFM1:NM_001308164:exon5:c.C604T:p.Q202X, chr3 158366861 158366861 C T het . 28 +line8241 synonymous SNV RARRES1:NM_206963:exon1:c.G54A:p.P18P,RARRES1:NM_002888:exon1:c.G54A:p.P18P, chr3 158450151 158450151 C T het . 5 +line8242 nonsynonymous SNV RARRES1:NM_206963:exon1:c.G36C:p.W12C,RARRES1:NM_002888:exon1:c.G36C:p.W12C, chr3 158450169 158450169 C G het . 10 +line8243 synonymous SNV RARRES1:NM_206963:exon1:c.T27C:p.P9P,RARRES1:NM_002888:exon1:c.T27C:p.P9P, chr3 158450178 158450178 A G het . 14 +line8250 nonsynonymous SNV IFT80:NM_020800:exon3:c.A41G:p.Q14R, chr3 160099509 160099509 T C het . 29 +line8254 nonsynonymous SNV SMC4:NM_005496:exon21:c.C3368A:p.A1123E,SMC4:NM_001288753:exon22:c.C3293A:p.A1098E,SMC4:NM_001002800:exon22:c.C3368A:p.A1123E, chr3 160150141 160150141 C A het . 30 +line8255 synonymous SNV SMC4:NM_005496:exon22:c.C3564A:p.I1188I,SMC4:NM_001288753:exon23:c.C3489A:p.I1163I,SMC4:NM_001002800:exon23:c.C3564A:p.I1188I, chr3 160150847 160150847 C A het . 17 +line8266 nonsynonymous SNV B3GALNT1:NM_003781:exon5:c.G631T:p.D211Y,B3GALNT1:NM_001349135:exon6:c.G631T:p.D211Y,B3GALNT1:NM_001349149:exon6:c.G631T:p.D211Y,B3GALNT1:NM_001349130:exon7:c.G631T:p.D211Y,B3GALNT1:NM_001349136:exon5:c.G631T:p.D211Y,B3GALNT1:NM_001349131:exon8:c.G631T:p.D211Y,B3GALNT1:NM_001038628:exon8:c.G631T:p.D211Y,B3GALNT1:NM_001349159:exon6:c.G631T:p.D211Y,B3GALNT1:NM_001349142:exon4:c.G631T:p.D211Y,B3GALNT1:NM_001349155:exon5:c.G631T:p.D211Y,B3GALNT1:NM_033169:exon5:c.G631T:p.D211Y,B3GALNT1:NM_001349157:exon5:c.G631T:p.D211Y,B3GALNT1:NM_033167:exon6:c.G631T:p.D211Y,B3GALNT1:NM_001349158:exon4:c.G631T:p.D211Y,B3GALNT1:NM_001349163:exon6:c.G991T:p.D331Y,B3GALNT1:NM_001349154:exon7:c.G631T:p.D211Y,B3GALNT1:NM_001349144:exon6:c.G631T:p.D211Y,B3GALNT1:NM_001349152:exon7:c.G631T:p.D211Y,B3GALNT1:NM_001349137:exon7:c.G631T:p.D211Y,B3GALNT1:NM_001349140:exon7:c.G631T:p.D211Y,B3GALNT1:NM_001349138:exon6:c.G631T:p.D211Y,B3GALNT1:NM_001349148:exon5:c.G631T:p.D211Y,B3GALNT1:NM_001349146:exon5:c.G631T:p.D211Y,B3GALNT1:NM_001349143:exon8:c.G631T:p.D211Y,B3GALNT1:NM_001349141:exon5:c.G631T:p.D211Y,B3GALNT1:NM_001349161:exon5:c.G631T:p.D211Y,B3GALNT1:NM_001349132:exon7:c.G631T:p.D211Y,B3GALNT1:NM_001349162:exon6:c.G991T:p.D331Y,B3GALNT1:NM_001349150:exon6:c.G631T:p.D211Y,B3GALNT1:NM_033168:exon4:c.G631T:p.D211Y,B3GALNT1:NM_001349147:exon7:c.G631T:p.D211Y,B3GALNT1:NM_001349139:exon7:c.G631T:p.D211Y,B3GALNT1:NM_001349151:exon6:c.G631T:p.D211Y,B3GALNT1:NM_001349134:exon5:c.G631T:p.D211Y,B3GALNT1:NM_001349160:exon5:c.G631T:p.D211Y,B3GALNT1:NM_001349153:exon5:c.G631T:p.D211Y,B3GALNT1:NM_001349133:exon6:c.G631T:p.D211Y,B3GALNT1:NM_001349156:exon6:c.G631T:p.D211Y,B3GALNT1:NM_001349145:exon7:c.G631T:p.D211Y, chr3 160803912 160803912 C A het . 15 +line8302 stopgain SI:NM_001041:exon22:c.G2495A:p.W832X, chr3 164754197 164754197 C T het . 34 +line8306 nonsynonymous SNV SLITRK3:NM_001318810:exon2:c.G2140T:p.G714C,SLITRK3:NM_001318811:exon2:c.G2140T:p.G714C,SLITRK3:NM_014926:exon2:c.G2140T:p.G714C, chr3 164906479 164906479 C A het . 13 +line8333 nonsynonymous SNV LRRC31:NM_001277128:exon8:c.C1342T:p.H448Y,LRRC31:NM_024727:exon9:c.C1510T:p.H504Y, chr3 169557919 169557919 G A het . 18 +line8340 synonymous SNV SLC7A14:NM_020949:exon8:c.G2226A:p.R742R, chr3 170184933 170184933 C T het . 24 +line8356 nonsynonymous SNV FNDC3B:NM_001135095:exon19:c.C2203T:p.P735S,FNDC3B:NM_022763:exon19:c.C2203T:p.P735S, chr3 172062001 172062001 C T het . 8 +line8375 nonsynonymous SNV NAALADL2:NM_207015:exon6:c.C1153T:p.P385S, chr3 175165079 175165079 C T het . 19 +line8380 synonymous SNV NAALADL2:NM_207015:exon9:c.G1554A:p.Q518Q, chr3 175189447 175189447 G A het . 18 +line8399 nonsynonymous SNV PIK3CA:NM_006218:exon3:c.C538A:p.H180N, chr3 178917663 178917663 C A het . 22 +line8452 synonymous SNV EEF1AKMT4:NM_032331:exon3:c.T513C:p.F171F, chr3 183976108 183976108 T C het . 2 +line8459 nonframeshift deletion EIF4G1:NM_198242:exon6:c.903_911del:p.301_304del,EIF4G1:NM_001194947:exon10:c.1416_1424del:p.472_475del,EIF4G1:NM_198241:exon10:c.1395_1403del:p.465_468del,EIF4G1:NM_001194946:exon11:c.1416_1424del:p.472_475del,EIF4G1:NM_198244:exon7:c.1134_1142del:p.378_381del,EIF4G1:NM_004953:exon3:c.807_815del:p.269_272del,EIF4G1:NM_182917:exon9:c.1395_1403del:p.465_468del,EIF4G1:NM_001291157:exon10:c.1275_1283del:p.425_428del, chr3 184039767 184039775 AGGAGAAGC - het . 19 +line8460 nonsynonymous SNV EIF4G1:NM_198242:exon11:c.A1672C:p.T558P,EIF4G1:NM_001194947:exon15:c.A2185C:p.T729P,EIF4G1:NM_198241:exon15:c.A2164C:p.T722P,EIF4G1:NM_001194946:exon16:c.A2185C:p.T729P,EIF4G1:NM_198244:exon12:c.A1903C:p.T635P,EIF4G1:NM_004953:exon8:c.A1579C:p.T527P,EIF4G1:NM_182917:exon14:c.A2167C:p.T723P,EIF4G1:NM_001291157:exon15:c.A2044C:p.T682P, chr3 184041271 184041271 A C het . 24 +line8464 nonframeshift insertion MAGEF1:NM_022149:exon1:c.476_477insGGA:p.D159delinsED, chr3 184429133 184429133 - TCC het . 16 +line8476 synonymous SNV TMEM41A:NM_080652:exon2:c.C225T:p.G75G, chr3 185214664 185214664 G A het . 35 +line8485 synonymous SNV AHSG:NM_001354571:exon7:c.A813C:p.T271T,AHSG:NM_001622:exon7:c.A810C:p.T270T,AHSG:NM_001354572:exon7:c.A807C:p.T269T,AHSG:NM_001354573:exon6:c.A726C:p.T242T, chr3 186338425 186338425 A C het . 5 +line8489 synonymous SNV HRG:NM_000412:exon7:c.A888C:p.G296G, chr3 186394982 186394982 A C het . 21 +line8506 nonsynonymous SNV RTP4:NM_022147:exon2:c.C236T:p.T79I, chr3 187088656 187088656 C T het . 13 +line8515 synonymous SNV LPP:NM_005578:exon7:c.G1143A:p.S381S,LPP:NM_001167672:exon6:c.G702A:p.S234S,LPP:NM_001167671:exon7:c.G1143A:p.S381S, chr3 188426084 188426084 G A het . 21 +line8546 synonymous SNV CCDC50:NM_178335:exon3:c.C228T:p.R76R,CCDC50:NM_174908:exon3:c.C228T:p.R76R, chr3 191075902 191075902 C T het . 22 +line8602 nonsynonymous SNV XXYLT1:NM_001308069:exon4:c.G575T:p.G192V,XXYLT1:NM_152531:exon4:c.G1013T:p.G338V, chr3 194790613 194790613 C A het . 11 +line8611 nonsynonymous SNV MUC4:NM_018406:exon17:c.C14909T:p.T4970M,MUC4:NM_138297:exon15:c.C2048T:p.T683M,MUC4:NM_004532:exon16:c.C2201T:p.T734M, chr3 195486072 195486072 G A het . 14 +line8613 nonsynonymous SNV MUC4:NM_018406:exon4:c.G12971A:p.G4324D,MUC4:NM_138297:exon2:c.G110A:p.G37D,MUC4:NM_004532:exon3:c.G263A:p.G88D, chr3 195501149 195501149 C T het . 4 +line8614 synonymous SNV MUC4:NM_018406:exon2:c.C12414A:p.S4138S, chr3 195506037 195506037 G T het . 5 +line8615 nonsynonymous SNV MUC4:NM_018406:exon2:c.G7702T:p.A2568S, chr3 195510749 195510749 C A het . 2 +line8616 nonsynonymous SNV MUC4:NM_018406:exon2:c.G7624A:p.A2542T, chr3 195510827 195510827 C T het . 17 +line8617 synonymous SNV MUC4:NM_018406:exon2:c.A7281C:p.T2427T, chr3 195511170 195511170 T G het . 18 +line8618 nonsynonymous SNV MUC4:NM_018406:exon2:c.T7120C:p.S2374P, chr3 195511331 195511331 A G het . 6 +line8619 synonymous SNV MUC4:NM_018406:exon2:c.C6348T:p.T2116T, chr3 195512103 195512103 G A het . 35 +line8620 nonsynonymous SNV MUC4:NM_018406:exon2:c.A6344T:p.D2115V, chr3 195512107 195512107 T A het . 36 +line8621 synonymous SNV MUC4:NM_018406:exon2:c.T5349C:p.S1783S, chr3 195513102 195513102 A G het . 25 +line8622 synonymous SNV MUC4:NM_018406:exon2:c.C5325T:p.T1775T, chr3 195513126 195513126 G A het . 23 +line8623 synonymous SNV MUC4:NM_018406:exon2:c.T5106G:p.V1702V, chr3 195513345 195513345 A C het . 14 +line8624 nonsynonymous SNV MUC4:NM_018406:exon2:c.C5086T:p.R1696C, chr3 195513365 195513365 G A het . 16 +line8625 nonsynonymous SNV MUC4:NM_018406:exon2:c.C5081T:p.T1694I, chr3 195513370 195513370 G A het . 17 +line8626 nonframeshift insertion MUC4:NM_018406:exon2:c.338_339insTGTTACGCAGGAGAC:p.T113delinsTVTQET, chr3 195518112 195518112 - GTCTCCTGCGTAACA het . 17 +line8638 nonsynonymous SNV UBXN7:NM_015562:exon9:c.G1067T:p.G356V, chr3 196089326 196089326 C A het . 23 +line8649 synonymous SNV PAK2:NM_002577:exon4:c.C379T:p.L127L, chr3 196529978 196529978 C T het . 9 +line8650 synonymous SNV PAK2:NM_002577:exon4:c.A414G:p.K138K, chr3 196530013 196530013 A G het . 7 +line8651 synonymous SNV PAK2:NM_002577:exon4:c.C423T:p.S141S, chr3 196530022 196530022 C T het . 7 +line8660 nonsynonymous SNV RUBCN:NM_001145642:exon3:c.G66T:p.W22C,RUBCN:NM_014687:exon3:c.G246T:p.W82C,RUBCN:NM_001346873:exon3:c.G246T:p.W82C, chr3 197432020 197432020 C A het . 28 +line8693 unknown UNKNOWN chr4 85995 85995 - A het . 8 +line8694 unknown UNKNOWN chr4 86018 86018 T C het . 2 +line8695 unknown UNKNOWN chr4 87277 87277 G C het . 13 +line8696 unknown UNKNOWN chr4 87313 87313 - A het . 9 +line8703 stopgain ZNF141:NM_003441:exon4:c.C887G:p.S296X,ZNF141:NM_001348277:exon2:c.C659G:p.S220X, chr4 367113 367113 C G het . 34 +line8707 stopgain PIGG:NM_001345988:exon6:c.C261A:p.Y87X,PIGG:NM_001345989:exon7:c.C1290A:p.Y430X,PIGG:NM_001345987:exon7:c.C1023A:p.Y341X,PIGG:NM_001289053:exon7:c.C1023A:p.Y341X,PIGG:NM_001289051:exon7:c.C1023A:p.Y341X,PIGG:NM_001345986:exon7:c.C1023A:p.Y341X,PIGG:NM_001127178:exon7:c.C1290A:p.Y430X,PIGG:NM_001289052:exon5:c.C891A:p.Y297X,PIGG:NM_017733:exon7:c.C1290A:p.Y430X,PIGG:NM_001345994:exon8:c.C216A:p.Y72X, chr4 515020 515020 C A het . 18 +line8712 synonymous SNV TMEM175:NM_001297423:exon7:c.T204C:p.I68I,TMEM175:NM_032326:exon7:c.T450C:p.I150I,TMEM175:NM_001297427:exon7:c.T102C:p.I34I,TMEM175:NM_001297425:exon5:c.T204C:p.I68I,TMEM175:NM_001297426:exon8:c.T102C:p.I34I,TMEM175:NM_001297428:exon5:c.T102C:p.I34I,TMEM175:NM_001297424:exon5:c.T204C:p.I68I, chr4 946226 946226 T C het . 7 +line8713 synonymous SNV IDUA:NM_000203:exon1:c.C24A:p.A8A, chr4 980896 980896 C A het . 12 +line8714 synonymous SNV IDUA:NM_000203:exon1:c.G60A:p.A20A, chr4 980932 980932 G A het . 8 +line8716 synonymous SNV RNF212:NM_001193318:exon4:c.G720A:p.R240R, chr4 1087329 1087329 C T het . 2 +line8717 synonymous SNV RNF212:NM_001193318:exon4:c.G711A:p.G237G, chr4 1087338 1087338 C T het . 4 +line8745 synonymous SNV MFSD10:NM_001120:exon1:c.G72T:p.V24V,MFSD10:NM_001146069:exon2:c.G72T:p.V24V,MFSD10:NM_001363679:exon2:c.G72T:p.V24V, chr4 2935579 2935579 C A het . 32 +line8749 nonsynonymous SNV GRK4:NM_001004056:exon13:c.T1361C:p.V454A,GRK4:NM_005307:exon13:c.T1361C:p.V454A,GRK4:NM_182982:exon14:c.T1457C:p.V486A,GRK4:NM_001350173:exon12:c.T875C:p.V292A,GRK4:NM_001004057:exon14:c.T1457C:p.V486A, chr4 3039150 3039150 T C het . 10 +line8753 nonsynonymous SNV MSANTD1:NM_001042690:exon1:c.C20A:p.P7Q, chr4 3250969 3250969 C A het . 3 +line8754 synonymous SNV RGS12:NM_002926:exon2:c.A516G:p.S172S,RGS12:NM_198229:exon2:c.A516G:p.S172S, chr4 3318413 3318413 A G het . 28 +line8756 synonymous SNV RGS12:NM_002926:exon5:c.C2055T:p.S685S,RGS12:NM_198229:exon5:c.C2055T:p.S685S,RGS12:NM_198227:exon3:c.C111T:p.S37S, chr4 3415833 3415833 C T het . 6 +line8761 synonymous SNV LRPAP1:NM_002337:exon4:c.C492T:p.F164F, chr4 3520698 3520698 G A het . 19 +line8797 nonsynonymous SNV STX18:NM_001346281:exon9:c.G798T:p.E266D,STX18:NM_016930:exon9:c.G804T:p.E268D,STX18:NM_001346300:exon8:c.G561T:p.E187D,STX18:NM_001346282:exon9:c.G561T:p.E187D, chr4 4425272 4425272 C A het . 28 +line8803 synonymous SNV EVC2:NM_001166136:exon15:c.C2361T:p.A787A,EVC2:NM_147127:exon15:c.C2601T:p.A867A, chr4 5620310 5620310 G A het . 18 +line8804 synonymous SNV EVC2:NM_001166136:exon14:c.T1821C:p.R607R,EVC2:NM_147127:exon14:c.T2061C:p.R687R, chr4 5624704 5624704 A G het . 9 +line8806 synonymous SNV EVC2:NM_001166136:exon13:c.C1789A:p.R597R,EVC2:NM_147127:exon13:c.C2029A:p.R677R, chr4 5627493 5627493 G T het . 31 +line8810 nonsynonymous SNV EVC:NM_001306090:exon7:c.C848A:p.T283K,EVC:NM_001306092:exon7:c.C848A:p.T283K,EVC:NM_153717:exon7:c.C848A:p.T283K, chr4 5746977 5746977 C A het . 42 +line8825 nonsynonymous SNV PPP2R2C:NM_181876:exon1:c.C32T:p.P11L, chr4 6383542 6383542 G A het . 14 +line8838 synonymous SNV AFAP1:NM_001134647:exon5:c.C522T:p.C174C,AFAP1:NM_198595:exon5:c.C522T:p.C174C, chr4 7844890 7844890 G A het . 20 +line8839 synonymous SNV LOC389199:NM_203423:exon1:c.T426C:p.A142A, chr4 7941318 7941318 T C het . 6 +line8840 nonsynonymous SNV LOC389199:NM_203423:exon1:c.G454C:p.G152R, chr4 7941346 7941346 G C het . 12 +line8853 nonsynonymous SNV TRMT44:NM_001350233:exon6:c.G416T:p.G139V,TRMT44:NM_152544:exon6:c.G1139T:p.G380V, chr4 8456476 8456476 G T het . 19 +line8862 synonymous SNV HMX1:NM_018942:exon2:c.A879G:p.A293A, chr4 8869587 8869587 T C het . 4 +line8879 nonsynonymous SNV ZNF518B:NM_053042:exon3:c.C1509G:p.N503K, chr4 10446444 10446444 G C het . 29 +line8915 nonsynonymous SNV FGFBP1:NM_005130:exon3:c.G163A:p.G55R, chr4 15938093 15938093 C T het . 19 +line8951 nonsynonymous SNV LCORL:NM_001166139:exon5:c.G584T:p.S195I,LCORL:NM_153686:exon5:c.G584T:p.S195I, chr4 17910815 17910815 C A het . 39 +line8985 nonsynonymous SNV PPARGC1A:NM_013261:exon8:c.G1760T:p.R587I,PPARGC1A:NM_001330753:exon7:c.G1379T:p.R460I,PPARGC1A:NM_001330751:exon10:c.G1775T:p.R592I,PPARGC1A:NM_001354827:exon9:c.G1775T:p.R592I,PPARGC1A:NM_001354826:exon10:c.G1379T:p.R460I,PPARGC1A:NM_001330752:exon9:c.G1724T:p.R575I,PPARGC1A:NM_001354825:exon9:c.G1775T:p.R592I, chr4 23815346 23815346 C A het . 12 +line9010 nonsynonymous SNV SLC34A2:NM_006424:exon13:c.A1901G:p.D634G,SLC34A2:NM_001177998:exon13:c.A1898G:p.D633G,SLC34A2:NM_001177999:exon13:c.A1898G:p.D633G, chr4 25678199 25678199 A G het . 22 +line9019 synonymous SNV RBPJ:NM_005349:exon2:c.G21A:p.S7S, chr4 26322399 26322399 G A het . 11 +line9098 nonsynonymous SNV PGM2:NM_018290:exon14:c.C1750A:p.L584M, chr4 37863144 37863144 C A het . 17 +line9113 synonymous SNV RFC1:NM_001363496:exon19:c.A2466G:p.P822P,RFC1:NM_001363495:exon19:c.A2463G:p.P821P,RFC1:NM_002913:exon20:c.A2541G:p.P847P,RFC1:NM_001204747:exon20:c.A2544G:p.P848P, chr4 39302029 39302029 T C het . 8 +line9131 nonsynonymous SNV N4BP2:NM_001318359:exon5:c.C400A:p.P134T,N4BP2:NM_018177:exon4:c.C640A:p.P214T, chr4 40104105 40104105 C A het . 28 +line9137 synonymous SNV RBM47:NM_019027:exon3:c.C57G:p.S19S,RBM47:NM_001098634:exon4:c.C57G:p.S19S, chr4 40440854 40440854 G C het . 7 +line9146 nonsynonymous SNV APBB2:NM_173075:exon6:c.G318T:p.Q106H,APBB2:NM_001330658:exon5:c.G318T:p.Q106H,APBB2:NM_001330656:exon6:c.G318T:p.Q106H,APBB2:NM_004307:exon6:c.G318T:p.Q106H,APBB2:NM_001166050:exon6:c.G318T:p.Q106H, chr4 41016117 41016117 C A het . 28 +line9164 synonymous SNV ATP8A1:NM_001105529:exon20:c.A1761G:p.E587E,ATP8A1:NM_006095:exon21:c.A1806G:p.E602E, chr4 42526781 42526781 T C het . 15 +line9207 stopgain CORIN:NM_001278586:exon10:c.G1270T:p.E424X,CORIN:NM_001278585:exon9:c.G1069T:p.E357X,CORIN:NM_006587:exon11:c.G1381T:p.E461X, chr4 47667257 47667257 C A het . 16 +line9208 synonymous SNV CORIN:NM_006587:exon8:c.T1116C:p.S372S, chr4 47682174 47682174 A G het . 3 +line9209 nonsynonymous SNV CORIN:NM_001278586:exon7:c.G951T:p.K317N,CORIN:NM_001278585:exon6:c.G750T:p.K250N,CORIN:NM_006587:exon7:c.G951T:p.K317N, chr4 47685818 47685818 C A het . 24 +line9306 nonframeshift deletion KIAA1211:NM_020722:exon8:c.2597_2599del:p.866_867del, chr4 57182265 57182267 AGA - het . 22 +line9307 synonymous SNV KIAA1211:NM_020722:exon8:c.G2979A:p.A993A, chr4 57182647 57182647 G A het . 14 +line9311 nonsynonymous SNV ARL9:NM_206919:exon3:c.C166T:p.P56S,ARL9:NM_001363794:exon3:c.C592T:p.P198S, chr4 57384993 57384993 C T het . 15 +line9323 synonymous SNV NOA1:NM_032313:exon1:c.C108T:p.C36C, chr4 57843644 57843644 G A het . 32 +line9366 nonsynonymous SNV ADGRL3:NM_001322402:exon12:c.C1904A:p.T635K,ADGRL3:NM_015236:exon11:c.C1700A:p.T567K,ADGRL3:NM_001322246:exon11:c.C1700A:p.T567K, chr4 62775294 62775294 C A het . 6 +line9439 nonsynonymous SNV SULT1B1:NM_014465:exon8:c.T839C:p.I280T, chr4 70592858 70592858 A G het . 16 +line9452 synonymous SNV ODAM:NM_017855:exon2:c.C69T:p.L23L, chr4 71062426 71062426 C T het . 14 +line9467 nonsynonymous SNV RUFY3:NM_001037442:exon18:c.C1840A:p.Q614K,RUFY3:NM_001291993:exon19:c.C1681A:p.Q561K, chr4 71672353 71672353 C A het . 15 +line9509 nonsynonymous SNV AFM:NM_001133:exon8:c.A912C:p.E304D, chr4 74357657 74357657 A C het . 18 +line9576 synonymous SNV FRAS1:NM_001166133:exon17:c.T1947C:p.H649H,FRAS1:NM_025074:exon17:c.T1947C:p.H649H, chr4 79238649 79238649 T C het . 3 +line9580 synonymous SNV FRAS1:NM_025074:exon56:c.C8439T:p.D2813D, chr4 79400868 79400868 C T het . 2 +line9584 nonsynonymous SNV ANXA3:NM_005139:exon11:c.C752T:p.P251L, chr4 79522685 79522685 C T het . 26 +line9596 nonsynonymous SNV ANTXR2:NM_058172:exon13:c.G1069C:p.A357P,ANTXR2:NM_001286780:exon13:c.G838C:p.A280P,ANTXR2:NM_001286781:exon13:c.G838C:p.A280P,ANTXR2:NM_001145794:exon13:c.G1069C:p.A357P, chr4 80905990 80905990 C G het . 10 +line9601 nonsynonymous SNV PRKG2:NM_001282485:exon16:c.G1870T:p.V624F,PRKG2:NM_001282480:exon12:c.G697T:p.V233F,PRKG2:NM_001282482:exon11:c.G610T:p.V204F,PRKG2:NM_001282481:exon11:c.G697T:p.V233F,PRKG2:NM_001363401:exon16:c.G1957T:p.V653F,PRKG2:NM_001282483:exon11:c.G517T:p.V173F,PRKG2:NM_006259:exon16:c.G1957T:p.V653F, chr4 82027073 82027073 C A het . 23 +line9613 synonymous SNV SEC31A:NM_001300744:exon4:c.G225A:p.G75G,SEC31A:NM_001318119:exon4:c.G225A:p.G75G,SEC31A:NM_001077207:exon4:c.G225A:p.G75G,SEC31A:NM_001077206:exon4:c.G225A:p.G75G,SEC31A:NM_016211:exon4:c.G225A:p.G75G,SEC31A:NM_001191049:exon3:c.G210A:p.G70G,SEC31A:NM_001318120:exon6:c.G225A:p.G75G,SEC31A:NM_001077208:exon4:c.G225A:p.G75G,SEC31A:NM_001300745:exon4:c.G225A:p.G75G, chr4 83800060 83800060 C T het . 21 +line9627 synonymous SNV HELQ:NM_001297755:exon11:c.G2103T:p.T701T,HELQ:NM_001297756:exon12:c.G813T:p.T271T,HELQ:NM_001297757:exon11:c.G672T:p.T224T,HELQ:NM_133636:exon12:c.G2304T:p.T768T, chr4 84350891 84350891 C A het . 23 +line9644 nonsynonymous SNV WDFY3:NM_014991:exon36:c.G5939T:p.S1980I, chr4 85672670 85672670 C A het . 19 +line9645 nonsynonymous SNV WDFY3:NM_014991:exon25:c.G4156T:p.A1386S, chr4 85704134 85704134 C A het . 16 +line9655 nonsynonymous SNV MAPK10:NM_002753:exon12:c.T1139G:p.L380W,MAPK10:NM_001351625:exon12:c.T1025G:p.L342W,MAPK10:NM_001351624:exon12:c.T1025G:p.L342W,MAPK10:NM_001363657:exon12:c.T1025G:p.L342W,MAPK10:NM_138980:exon12:c.T1025G:p.L342W,MAPK10:NM_138982:exon12:c.T1139G:p.L380W,MAPK10:NM_001318067:exon11:c.T1139G:p.L380W,MAPK10:NM_001318068:exon11:c.T704G:p.L235W, chr4 86952556 86952556 A C het . 35 +line9676 nonsynonymous SNV DSPP:NM_014208:exon4:c.C353T:p.T118I, chr4 88533691 88533691 C T het . 52 +line9677 nonframeshift substitution DSPP:NM_014208:exon5:c.2054_2055GT, chr4 88535868 88535869 AC GT het . 10 +line9678 nonsynonymous SNV DSPP:NM_014208:exon5:c.G2548A:p.G850S, chr4 88536362 88536362 G A het . 31 +line9679 nonsynonymous SNV DSPP:NM_014208:exon5:c.A2878G:p.S960G, chr4 88536692 88536692 A G het . 13 +line9684 nonframeshift deletion PKD2:NM_000297:exon1:c.289_291del:p.97_97del, chr4 88929174 88929176 GAG - het . 26 +line9688 nonsynonymous SNV HERC6:NM_017912:exon17:c.C2228A:p.S743Y,HERC6:NM_001165136:exon16:c.C2120A:p.S707Y, chr4 89352435 89352435 C A het . 11 +line9691 synonymous SNV NAP1L5:NM_153757:exon1:c.A69G:p.A23A, chr4 89618837 89618837 T C het . 8 +line9695 nonsynonymous SNV FAM13A:NM_014883:exon3:c.G251T:p.G84V, chr4 89941787 89941787 C A het . 27 +line9778 nonsynonymous SNV C4orf54:NM_001354435:exon1:c.G2941T:p.A981S, chr4 100572865 100572865 C A het . 17 +line9779 nonsynonymous SNV C4orf54:NM_001354435:exon1:c.C2744T:p.T915I, chr4 100573062 100573062 G A het . 7 +line9780 nonsynonymous SNV C4orf54:NM_001354435:exon1:c.G2288T:p.S763I, chr4 100573518 100573518 C A het . 22 +line9781 nonsynonymous SNV C4orf54:NM_001354435:exon1:c.G985C:p.G329R, chr4 100574821 100574821 C G het . 5 +line9815 nonsynonymous SNV CENPE:NM_001813:exon30:c.G4408T:p.A1470S,CENPE:NM_001286734:exon29:c.G4333T:p.A1445S, chr4 104066991 104066991 C A het . 10 +line9825 nonsynonymous SNV TET2:NM_017628:exon3:c.C1088T:p.P363L,TET2:NM_001127208:exon3:c.C1088T:p.P363L, chr4 106156187 106156187 C T het . 19 +line9880 nonsynonymous SNV ENPEP:NM_001977:exon1:c.C281T:p.P94L, chr4 111397851 111397851 C T het . 27 +line9882 nonsynonymous SNV ENPEP:NM_001977:exon12:c.C1862A:p.P621Q, chr4 111463961 111463961 C A het . 22 +line9920 nonsynonymous SNV UGT8:NM_003360:exon1:c.C365A:p.A122D,UGT8:NM_001322114:exon2:c.C365A:p.A122D,UGT8:NM_001322112:exon3:c.C365A:p.A122D,UGT8:NM_001128174:exon2:c.C365A:p.A122D,UGT8:NM_001322113:exon2:c.C365A:p.A122D, chr4 115544401 115544401 C A het . 19 +line9960 nonsynonymous SNV USP53:NM_019050:exon15:c.C1610A:p.S537Y, chr4 120192625 120192625 C A het . 20 +line9998 nonsynonymous SNV KIAA1109:NM_015312:exon21:c.C2621A:p.P874H, chr4 123145660 123145660 C A het . 2 +line10014 synonymous SNV FAT4:NM_001291285:exon3:c.G5406A:p.L1802L,FAT4:NM_024582:exon3:c.G5406A:p.L1802L,FAT4:NM_001291303:exon3:c.G5406A:p.L1802L, chr4 126328133 126328133 G A het . 44 +line10015 synonymous SNV FAT4:NM_001291285:exon9:c.C10500T:p.V3500V,FAT4:NM_024582:exon9:c.C10494T:p.V3498V,FAT4:NM_001291303:exon9:c.C10500T:p.V3500V, chr4 126372665 126372665 C T het . 15 +line10016 nonsynonymous SNV FAT4:NM_001291285:exon17:c.C13225T:p.P4409S,FAT4:NM_024582:exon17:c.C13222T:p.P4408S,FAT4:NM_001291303:exon17:c.C13228T:p.P4410S, chr4 126411199 126411199 C T het . 15 +line10030 nonsynonymous SNV INTU:NM_015693:exon12:c.T2267C:p.L756P, chr4 128628120 128628120 T C het . 4 +line10123 nonsynonymous SNV MAML3:NM_018717:exon2:c.G2049T:p.M683I, chr4 140810541 140810541 C A het . 19 +line10126 nonsynonymous SNV MGAT4D:NM_001277353:exon4:c.C401T:p.A134V, chr4 141396091 141396091 G A het . 5 +line10141 nonsynonymous SNV INPP4B:NM_001331040:exon19:c.T1781C:p.V594A,INPP4B:NM_003866:exon20:c.T1781C:p.V594A,INPP4B:NM_001101669:exon19:c.T1781C:p.V594A, chr4 143045853 143045853 A G het . 3 +line10167 stopgain HHIP:NM_022475:exon9:c.C1527A:p.Y509X, chr4 145635480 145635480 C A het . 32 +line10176 nonsynonymous SNV ABCE1:NM_001040876:exon6:c.C409A:p.P137T,ABCE1:NM_002940:exon6:c.C409A:p.P137T, chr4 146031258 146031258 C A het . 12 +line10177 nonsynonymous SNV OTUD4:NM_001102653:exon8:c.G451A:p.A151T, chr4 146077132 146077132 C T het . 23 +line10219 nonframeshift substitution DCLK2:NM_001040260:exon16:c.2242_2243TG,DCLK2:NM_001040261:exon17:c.2293_2294TG, chr4 151177340 151177341 CC TG het . 7 +line10230 synonymous SNV SH3D19:NM_001128924:exon9:c.G1560T:p.R520R,SH3D19:NM_001128923:exon16:c.G1668T:p.R556R,SH3D19:NM_001009555:exon17:c.G1737T:p.R579R,SH3D19:NM_001243349:exon16:c.G1668T:p.R556R, chr4 152054367 152054367 C A het . 20 +line10231 frameshift insertion PRSS48:NM_183375:exon2:c.123_124insCAGGT:p.W41fs, chr4 152201018 152201018 - CAGGT het . 11 +line10232 nonsynonymous SNV PRSS48:NM_183375:exon2:c.G158A:p.C53Y, chr4 152201053 152201053 G A het . 12 +line10237 synonymous SNV TIGD4:NM_145720:exon2:c.A702G:p.G234G, chr4 153691455 153691455 T C het . 25 +line10248 nonsynonymous SNV DCHS2:NM_001142552:exon8:c.C4025A:p.P1342H, chr4 155244475 155244475 G T het . 18 +line10254 synonymous SNV FGA:NM_000508:exon5:c.G582T:p.L194L,FGA:NM_021871:exon5:c.G582T:p.L194L, chr4 155507999 155507999 C A het . 22 +line10267 nonsynonymous SNV GUCY1B1:NM_001291951:exon11:c.C1288A:p.H430N,GUCY1B1:NM_000857:exon10:c.C1222A:p.H408N,GUCY1B1:NM_001291952:exon11:c.C1162A:p.H388N,GUCY1B1:NM_001291953:exon11:c.C1147A:p.H383N,GUCY1B1:NM_001291955:exon9:c.C1018A:p.H340N, chr4 156723540 156723540 C A het . 29 +line10280 nonsynonymous SNV PDGFC:NM_016205:exon1:c.A113G:p.Q38R, chr4 157891943 157891943 T C het . 13 +line10302 frameshift deletion PPID:NM_005038:exon4:c.437_438del:p.H146fs, chr4 159638248 159638249 AT - het . 22 +line10353 nonframeshift deletion ANP32C:NM_012403:exon1:c.576_578del:p.192_193del, chr4 165118286 165118288 TCC - het . 38 +line10380 nonsynonymous SNV DDX60:NM_017631:exon23:c.G3083A:p.R1028Q, chr4 169183895 169183895 C T het . 16 +line10404 nonsynonymous SNV NEK1:NM_001199397:exon18:c.G1433T:p.G478V,NEK1:NM_012224:exon17:c.G1433T:p.G478V, chr4 170477000 170477000 C A het . 24 +line10408 nonsynonymous SNV HPF1:NM_017867:exon5:c.G521A:p.R174K, chr4 170663235 170663235 C T het . 21 +line10438 nonsynonymous SNV CEP44:NM_001040157:exon9:c.C961A:p.H321N,CEP44:NM_001145314:exon9:c.C961A:p.H321N, chr4 175232009 175232009 C A het . 23 +line10455 synonymous SNV ASB5:NM_080874:exon6:c.G843A:p.R281R, chr4 177137988 177137988 C T het . 9 +line10464 nonframeshift deletion VEGFC:NM_005429:exon7:c.1256_1258del:p.419_420del, chr4 177605082 177605084 TCA - het . 9 +line10561 nonsynonymous SNV CENPU:NM_024629:exon1:c.G46A:p.G16S, chr4 185655171 185655171 C T het . 17 +line10562 synonymous SNV CENPU:NM_024629:exon1:c.G27C:p.P9P, chr4 185655190 185655190 C G het . 15 +line10563 nonsynonymous SNV CENPU:NM_024629:exon1:c.C25G:p.P9A, chr4 185655192 185655192 G C het . 15 +line10572 nonsynonymous SNV SNX25:NM_001317781:exon9:c.C1087A:p.L363I, chr4 186244784 186244784 C A het . 33 +line10577 synonymous SNV CCDC110:NM_001145411:exon5:c.C2259T:p.Y753Y,CCDC110:NM_152775:exon6:c.C2370T:p.Y790Y, chr4 186379371 186379371 G A het . 24 +line10578 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.G1448T:p.G483V,CCDC110:NM_152775:exon6:c.G1559T:p.G520V, chr4 186380182 186380182 C A het . 21 +line10579 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.C1133T:p.S378F,CCDC110:NM_152775:exon6:c.C1244T:p.S415F, chr4 186380497 186380497 G A het . 28 +line10580 nonsynonymous SNV PDLIM3:NM_014476:exon8:c.G1033T:p.A345S,PDLIM3:NM_001114107:exon7:c.G889T:p.A297S,PDLIM3:NM_001257962:exon7:c.G769T:p.A257S,PDLIM3:NM_001257963:exon5:c.G532T:p.A178S, chr4 186423510 186423510 C A het . 20 +line10597 nonsynonymous SNV FAM149A:NM_001350178:exon8:c.G578T:p.G193V,FAM149A:NM_001350179:exon8:c.G578T:p.G193V,FAM149A:NM_001006655:exon8:c.G578T:p.G193V,FAM149A:NM_015398:exon8:c.G578T:p.G193V, chr4 187078722 187078722 G T het . 15 +line10601 nonsynonymous SNV MTNR1A:NM_005958:exon1:c.A28G:p.N10D, chr4 187476492 187476492 T C het . 7 +line10603 nonsynonymous SNV FAT1:NM_005245:exon2:c.G3067T:p.V1023F, chr4 187627915 187627915 C A het . 25 +line10604 nonsynonymous SNV FAT1:NM_005245:exon2:c.G572A:p.R191Q, chr4 187630410 187630410 C T het . 28 +line11059 nonsynonymous SNV PLEKHG4B:NM_052909:exon16:c.C3946A:p.Q1316K, chr5 171455 171455 C A het . 42 +line11062 nonsynonymous SNV CCDC127:NM_145265:exon3:c.G762T:p.E254D, chr5 205433 205433 C A het . 18 +line11091 nonsynonymous SNV SLC9A3:NM_001284351:exon6:c.G1126T:p.V376F,SLC9A3:NM_004174:exon6:c.G1126T:p.V376F, chr5 483404 483404 C A het . 27 +line11099 nonsynonymous SNV ZDHHC11B:NM_001351303:exon1:c.T2G:p.M1R, chr5 767033 767033 A C het . 13 +line11140 synonymous SNV TERT:NM_001193376:exon5:c.C2097T:p.A699A,TERT:NM_198253:exon5:c.C2097T:p.A699A, chr5 1279439 1279439 G A het . 24 +line11141 nonsynonymous SNV TERT:NM_001193376:exon3:c.G1640T:p.W547L,TERT:NM_198253:exon3:c.G1640T:p.W547L, chr5 1282673 1282673 C A het . 37 +line11187 nonsynonymous SNV ICE1:NM_015325:exon13:c.C5036A:p.P1679H, chr5 5464483 5464483 C A het . 28 +line11222 nonsynonymous SNV NSUN2:NM_017755:exon15:c.G1635T:p.R545S,NSUN2:NM_001193455:exon14:c.G1530T:p.R510S, chr5 6605488 6605488 C A het . 26 +line11271 frameshift deletion ADCY2:NM_020546:exon16:c.2079_2094del:p.M693fs, chr5 7757684 7757715 GGCCGTGTTCAACATGGTAAGTCCCAGAGCAC - het . 13 +line11343 nonsynonymous SNV CMBL:NM_138809:exon6:c.G559T:p.V187L, chr5 10280744 10280744 C A het . 20 +line11373 synonymous SNV CTNND2:NM_001288717:exon13:c.G1017A:p.S339S,CTNND2:NM_001288716:exon11:c.G1305A:p.S435S,CTNND2:NM_001364128:exon11:c.G1305A:p.S435S,CTNND2:NM_001332:exon14:c.G2316A:p.S772S,CTNND2:NM_001288715:exon13:c.G2043A:p.S681S, chr5 11111117 11111117 C T het . 6 +line11390 nonsynonymous SNV DNAH5:NM_001369:exon74:c.G12845T:p.S4282I, chr5 13716660 13716660 C A het . 39 +line11392 nonsynonymous SNV DNAH5:NM_001369:exon70:c.G11974T:p.D3992Y, chr5 13727675 13727675 C A het . 46 +line11393 nonsynonymous SNV DNAH5:NM_001369:exon55:c.G9271T:p.V3091L, chr5 13776650 13776650 C A het . 51 +line11397 nonsynonymous SNV DNAH5:NM_001369:exon38:c.G6376T:p.D2126Y, chr5 13829687 13829687 C A het . 36 +line11402 synonymous SNV DNAH5:NM_001369:exon27:c.A4152G:p.T1384T, chr5 13865980 13865980 T C het . 29 +line11487 synonymous SNV H3.Y:NM_001355258:exon1:c.C225T:p.I75I, chr5 17655423 17655423 G A het . 4 +line11594 synonymous SNV PRDM9:NM_001310214:exon11:c.C2580T:p.Y860Y,PRDM9:NM_020227:exon11:c.C2580T:p.Y860Y, chr5 23527777 23527777 C T het . 13 +line11740 synonymous SNV PDZD2:NM_178140:exon18:c.A3060C:p.R1020R, chr5 32074272 32074272 A C het . 23 +line11770 nonsynonymous SNV SLC45A2:NM_001297417:exon3:c.A661G:p.S221G, chr5 33954511 33954511 T C het . 46 +line11773 synonymous SNV SLC45A2:NM_016180:exon1:c.C250T:p.L84L,SLC45A2:NM_001297417:exon1:c.C250T:p.L84L,SLC45A2:NM_001012509:exon1:c.C250T:p.L84L, chr5 33984439 33984439 G A het . 19 +line11798 nonsynonymous SNV RAD1:NM_002853:exon4:c.G526T:p.V176F, chr5 34911699 34911699 C A het . 24 +line11801 nonsynonymous SNV DNAJC21:NM_001348420:exon5:c.C448A:p.P150T,DNAJC21:NM_001012339:exon5:c.C448A:p.P150T,DNAJC21:NM_194283:exon5:c.C448A:p.P150T, chr5 34937440 34937440 C A het . 22 +line11811 nonsynonymous SNV SPEF2:NM_024867:exon37:c.G5380A:p.D1794N, chr5 35814566 35814566 G A het . 15 +line11815 nonsynonymous SNV IL7R:NM_002185:exon8:c.A1043C:p.N348T, chr5 35876251 35876251 A C het . 50 +line11818 nonsynonymous SNV UGT3A2:NM_001168316:exon6:c.A1331G:p.Q444R,UGT3A2:NM_174914:exon7:c.A1433G:p.Q478R, chr5 36035939 36035939 T C het . 28 +line11853 nonsynonymous SNV CPLANE1:NM_023073:exon34:c.G6625T:p.A2209S, chr5 37169501 37169501 C A het . 31 +line11854 nonsynonymous SNV CPLANE1:NM_023073:exon32:c.G6108T:p.Q2036H, chr5 37173920 37173920 C A het . 34 +line11866 synonymous SNV NUP155:NM_153485:exon1:c.C21T:p.G7G,NUP155:NM_001278312:exon1:c.C21T:p.G7G, chr5 37371059 37371059 G A het . 39 +line11888 nonsynonymous SNV EGFLAM:NM_182798:exon3:c.C248T:p.P83L,EGFLAM:NM_001205301:exon8:c.C950T:p.P317L,EGFLAM:NM_152403:exon8:c.C950T:p.P317L, chr5 38407051 38407051 C T het . 26 +line11894 nonsynonymous SNV RICTOR:NM_152756:exon28:c.C2719T:p.R907C,RICTOR:NM_001285439:exon28:c.C2719T:p.R907C,RICTOR:NM_001285440:exon28:c.C1864T:p.R622C, chr5 38953634 38953634 G A het . 18 +line11943 nonsynonymous SNV MROH2B:NM_173489:exon6:c.C518T:p.P173L, chr5 41061769 41061769 G A het . 15 +line11945 nonsynonymous SNV C6:NM_001115131:exon10:c.G1346T:p.S449I,C6:NM_000065:exon10:c.G1346T:p.S449I, chr5 41161907 41161907 C A het . 40 +line11949 nonsynonymous SNV FBXO4:NM_012176:exon6:c.C1036A:p.H346N, chr5 41939680 41939680 C A het . 30 +line12006 nonsynonymous SNV ZNF131:NM_001330707:exon5:c.C572A:p.A191D,ZNF131:NM_001297548:exon5:c.C572A:p.A191D,ZNF131:NM_001330717:exon5:c.C335A:p.A112D,ZNF131:NM_001330708:exon5:c.C572A:p.A191D,ZNF131:NM_001330715:exon5:c.C572A:p.A191D,ZNF131:NM_001330712:exon5:c.C572A:p.A191D,ZNF131:NM_001330716:exon5:c.C485A:p.A162D,ZNF131:NM_001330713:exon5:c.C572A:p.A191D,ZNF131:NM_003432:exon5:c.C572A:p.A191D,ZNF131:NM_001330706:exon5:c.C572A:p.A191D,ZNF131:NM_001330711:exon5:c.C572A:p.A191D,ZNF131:NM_001330714:exon5:c.C572A:p.A191D, chr5 43161551 43161551 C A het . 40 +line12072 synonymous SNV FGF10:NM_004465:exon1:c.G90T:p.V30V, chr5 44388695 44388695 C A het . 52 +line12083 synonymous SNV MRPS30:NM_016640:exon4:c.T987C:p.I329I, chr5 44813341 44813341 T C het . 29 +line12094 nonframeshift deletion HCN1:NM_021072:exon1:c.221_223del:p.74_75del, chr5 45695973 45695975 CGC - het . 19 +line12151 nonsynonymous SNV ITGA2:NM_002203:exon27:c.T3200C:p.M1067T, chr5 52379225 52379225 T C het . 44 +line12187 nonsynonymous SNV CDC20B:NM_152623:exon9:c.C1112T:p.S371F,CDC20B:NM_001145734:exon9:c.C1112T:p.S371F,CDC20B:NM_001170402:exon9:c.C1112T:p.S371F, chr5 54420734 54420734 G A het . 21 +line12188 nonsynonymous SNV GPX8:NM_001306201:exon2:c.C135A:p.H45Q,GPX8:NM_001306197:exon2:c.C261A:p.H87Q,GPX8:NM_001008397:exon2:c.C414A:p.H138Q, chr5 54457031 54457031 C A het . 31 +line12211 nonsynonymous SNV DDX4:NM_001166534:exon8:c.T641C:p.L214S,DDX4:NM_024415:exon15:c.T1088C:p.L363S,DDX4:NM_001142549:exon14:c.T986C:p.L329S,DDX4:NM_001166533:exon14:c.T1028C:p.L343S, chr5 55083744 55083744 T C het . 25 +line12214 nonsynonymous SNV IL31RA:NM_001242636:exon12:c.C1532A:p.T511N,IL31RA:NM_139017:exon12:c.C1589A:p.T530N,IL31RA:NM_001242637:exon12:c.C1589A:p.T530N,IL31RA:NM_001242639:exon13:c.C1163A:p.T388N,IL31RA:NM_001242638:exon14:c.C1532A:p.T511N, chr5 55206447 55206447 C A het . 31 +line12233 synonymous SNV MAP3K1:NM_005921:exon9:c.C1566T:p.T522T, chr5 56168712 56168712 C T het . 40 +line12285 nonsynonymous SNV DEPDC1B:NM_001145208:exon8:c.G944T:p.C315F,DEPDC1B:NM_018369:exon8:c.G944T:p.C315F, chr5 59901638 59901638 C A het . 18 +line12296 nonsynonymous SNV ZSWIM6:NM_020928:exon2:c.C862A:p.Q288K, chr5 60768693 60768693 C A het . 17 +line12315 nonsynonymous SNV LRRC70:NM_181506:exon2:c.C1720A:p.Q574K, chr5 61876985 61876985 C A het . 25 +line12344 nonsynonymous SNV SHISAL2B:NM_001164442:exon3:c.T429A:p.D143E, chr5 64013795 64013795 T A het . 32 +line12345 nonsynonymous SNV CWC27:NM_005869:exon2:c.C56A:p.T19N,CWC27:NM_001297644:exon2:c.C56A:p.T19N,CWC27:NM_001364478:exon2:c.C56A:p.T19N,CWC27:NM_001318000:exon2:c.C56A:p.T19N,CWC27:NM_001297645:exon2:c.C56A:p.T19N, chr5 64070531 64070531 C A het . 19 +line12374 nonsynonymous SNV ERBIN:NM_001253699:exon21:c.C3427A:p.Q1143K,ERBIN:NM_001253701:exon21:c.C3415A:p.Q1139K,ERBIN:NM_001253698:exon21:c.C3427A:p.Q1143K,ERBIN:NM_001006600:exon21:c.C3427A:p.Q1143K,ERBIN:NM_001253697:exon21:c.C3427A:p.Q1143K,ERBIN:NM_018695:exon21:c.C3427A:p.Q1143K, chr5 65350573 65350573 C A het . 24 +line12382 nonsynonymous SNV MAST4:NM_001297651:exon20:c.C2432T:p.A811V,MAST4:NM_015183:exon22:c.C2447T:p.A816V,MAST4:NM_001164664:exon23:c.C3014T:p.A1005V,MAST4:NM_001290226:exon21:c.C2396T:p.A799V,MAST4:NM_001290227:exon21:c.C2432T:p.A811V, chr5 66441127 66441127 C T het . 25 +line12383 nonframeshift deletion MAST4:NM_001297651:exon26:c.5461_5463del:p.1821_1821del,MAST4:NM_015183:exon28:c.5476_5478del:p.1826_1826del,MAST4:NM_001164664:exon29:c.6043_6045del:p.2015_2015del,MAST4:NM_001290226:exon27:c.5425_5427del:p.1809_1809del,MAST4:NM_001290227:exon26:c.5260_5262del:p.1754_1754del, chr5 66461050 66461052 CTC - het . 12 +line12396 synonymous SNV PIK3R1:NM_181523:exon3:c.A411G:p.E137E, chr5 67569294 67569294 A G het . 23 +line12424 nonsynonymous SNV CENPH:NM_022909:exon2:c.A156T:p.Q52H, chr5 68487643 68487643 A T het . 25 +line12432 nonframeshift deletion TAF9:NM_001015892:exon3:c.777_779del:p.259_260del,TAF9:NM_003187:exon3:c.777_779del:p.259_260del, chr5 68660786 68660788 TCA - het . 21 +line12443 nonsynonymous SNV BDP1:NM_018429:exon13:c.C1923A:p.S641R, chr5 70793220 70793220 C A het . 28 +line12445 nonsynonymous SNV BDP1:NM_018429:exon17:c.C3134A:p.S1045Y, chr5 70806053 70806053 C A het . 43 +line12446 nonsynonymous SNV BDP1:NM_018429:exon29:c.A6037C:p.I2013L, chr5 70837295 70837295 A C het . 9 +line12451 nonsynonymous SNV MCCC2:NM_022132:exon4:c.A335G:p.E112G,MCCC2:NM_001363147:exon4:c.A335G:p.E112G, chr5 70895539 70895539 A G het . 36 +line12458 nonsynonymous SNV MAP1B:NM_005909:exon5:c.A1780G:p.I594V,MAP1B:NM_001324255:exon4:c.A1402G:p.I468V, chr5 71490962 71490962 A G het . 36 +line12459 nonsynonymous SNV MAP1B:NM_005909:exon5:c.C1787A:p.T596K,MAP1B:NM_001324255:exon4:c.C1409A:p.T470K, chr5 71490969 71490969 C A het . 35 +line12495 synonymous SNV ARHGEF28:NM_001080479:exon25:c.G3066A:p.E1022E,ARHGEF28:NM_001244364:exon17:c.G2127A:p.E709E,ARHGEF28:NM_001177693:exon25:c.G3066A:p.E1022E, chr5 73181685 73181685 G A het . 22 +line12499 synonymous SNV ENC1:NM_001256575:exon3:c.A1065G:p.S355S,ENC1:NM_001256574:exon3:c.A1065G:p.S355S,ENC1:NM_003633:exon2:c.A1065G:p.S355S,ENC1:NM_001256576:exon2:c.A846G:p.S282S, chr5 73931246 73931246 T C het . 4 +line12500 nonsynonymous SNV ENC1:NM_001256575:exon3:c.G930T:p.L310F,ENC1:NM_001256574:exon3:c.G930T:p.L310F,ENC1:NM_003633:exon2:c.G930T:p.L310F,ENC1:NM_001256576:exon2:c.G711T:p.L237F, chr5 73931381 73931381 C A het . 36 +line12512 nonsynonymous SNV ANKRD31:NM_001164443:exon14:c.G2440T:p.D814Y, chr5 74442796 74442796 C A het . 32 +line12513 nonsynonymous SNV ANKRD31:NM_001164443:exon7:c.G609T:p.M203I, chr5 74491864 74491864 C A het . 27 +line12517 nonsynonymous SNV HMGCR:NM_001130996:exon18:c.C2417A:p.A806E,HMGCR:NM_000859:exon19:c.C2576A:p.A859E,HMGCR:NM_001364187:exon19:c.C2576A:p.A859E, chr5 74655928 74655928 C A het . 33 +line12521 stopgain POLK:NM_001345921:exon12:c.C1931A:p.S644X,POLK:NM_016218:exon13:c.C2129A:p.S710X,POLK:NM_001345922:exon14:c.C1859A:p.S620X, chr5 74892647 74892647 C A het . 40 +line12523 nonsynonymous SNV POC5:NM_152408:exon11:c.G1534T:p.A512S,POC5:NM_001099271:exon12:c.G1609T:p.A537S, chr5 74970379 74970379 C A het . 25 +line12524 nonsynonymous SNV POC5:NM_152408:exon9:c.G1332T:p.M444I,POC5:NM_001099271:exon10:c.G1407T:p.M469I, chr5 74981032 74981032 C A het . 19 +line12537 synonymous SNV SV2C:NM_001297716:exon10:c.C1590T:p.T530T,SV2C:NM_014979:exon10:c.C1590T:p.T530T, chr5 75594706 75594706 C T het . 29 +line12560 nonsynonymous SNV PDE8B:NM_001029853:exon19:c.C2293A:p.P765T,PDE8B:NM_001349753:exon21:c.C1981A:p.P661T,PDE8B:NM_001349748:exon20:c.C2350A:p.P784T,PDE8B:NM_001029851:exon17:c.C2062A:p.P688T,PDE8B:NM_001029852:exon19:c.C2188A:p.P730T,PDE8B:NM_001349750:exon21:c.C2113A:p.P705T,PDE8B:NM_003719:exon20:c.C2353A:p.P785T,PDE8B:NM_001349751:exon20:c.C2350A:p.P784T,PDE8B:NM_001349749:exon21:c.C2416A:p.P806T,PDE8B:NM_001349752:exon20:c.C2047A:p.P683T,PDE8B:NM_001029854:exon19:c.C2212A:p.P738T, chr5 76717748 76717748 C A het . 36 +line12576 unknown UNKNOWN chr5 77745853 77745853 - A het . 22 +line12596 synonymous SNV JMY:NM_152405:exon6:c.C1843A:p.R615R, chr5 78596648 78596648 C A het . 14 +line12603 nonsynonymous SNV CMYA5:NM_153610:exon2:c.C1461G:p.N487K, chr5 79026049 79026049 C G het . 22 +line12604 synonymous SNV CMYA5:NM_153610:exon2:c.C4758A:p.L1586L, chr5 79029346 79029346 C A het . 34 +line12624 nonsynonymous SNV ANKRD34B:NM_001004441:exon5:c.G688T:p.V230L, chr5 79855151 79855151 C A het . 39 +line12625 nonsynonymous SNV ANKRD34B:NM_001004441:exon5:c.G523T:p.D175Y, chr5 79855316 79855316 C A het . 37 +line12626 nonsynonymous SNV ANKRD34B:NM_001004441:exon5:c.G179T:p.S60I, chr5 79855660 79855660 C A het . 37 +line12629 nonframeshift deletion MSH3:NM_002439:exon1:c.154_171del:p.52_57del, chr5 79950700 79950717 GCAGCGGCTGCAGCGGCC - het . 16 +line12630 nonframeshift deletion MSH3:NM_002439:exon1:c.196_204del:p.66_68del, chr5 79950742 79950750 CCCCCAGCT - het . 13 +line12675 nonsynonymous SNV VCAN:NM_001164098:exon7:c.A1733T:p.E578V,VCAN:NM_004385:exon7:c.A1733T:p.E578V, chr5 82815858 82815858 A T het . 41 +line12676 stopgain VCAN:NM_004385:exon8:c.C4230A:p.Y1410X,VCAN:NM_001164097:exon7:c.C1269A:p.Y423X, chr5 82833052 82833052 C A het . 25 +line12677 nonsynonymous SNV VCAN:NM_004385:exon8:c.C4297A:p.Q1433K,VCAN:NM_001164097:exon7:c.C1336A:p.Q446K, chr5 82833119 82833119 C A het . 30 +line12678 synonymous SNV VCAN:NM_004385:exon8:c.G4323A:p.Q1441Q,VCAN:NM_001164097:exon7:c.G1362A:p.Q454Q, chr5 82833145 82833145 G A het . 31 +line12679 nonsynonymous SNV VCAN:NM_004385:exon8:c.C7702A:p.P2568T,VCAN:NM_001164097:exon7:c.C4741A:p.P1581T, chr5 82836524 82836524 C A het . 30 +line12749 stopgain MBLAC2:NM_203406:exon2:c.G673T:p.E225X, chr5 89757151 89757151 C A het . 32 +line12762 nonsynonymous SNV ADGRV1:NM_032119:exon61:c.C12470A:p.S4157Y, chr5 90072336 90072336 C A het . 26 +line12791 nonsynonymous SNV SLF1:NM_032290:exon14:c.C1684A:p.Q562K, chr5 94006570 94006570 C A het . 28 +line12796 nonsynonymous SNV MCTP1:NM_001002796:exon14:c.C1409T:p.T470I,MCTP1:NM_024717:exon14:c.C2072T:p.T691I,MCTP1:NM_001297777:exon12:c.C1271T:p.T424I, chr5 94207087 94207087 G A het . 34 +line12798 nonsynonymous SNV MCTP1:NM_001002796:exon5:c.G505A:p.D169N,MCTP1:NM_024717:exon5:c.G1168A:p.D390N,MCTP1:NM_001297777:exon5:c.G505A:p.D169N, chr5 94275793 94275793 C T het . 16 +line12820 nonsynonymous SNV RHOBTB3:NM_014899:exon6:c.C850A:p.L284I, chr5 95091267 95091267 C A het . 33 +line12822 synonymous SNV ELL2:NM_012081:exon7:c.C936T:p.D312D, chr5 95236415 95236415 G A het . 8 +line12823 nonsynonymous SNV ELL2:NM_012081:exon7:c.G892A:p.A298T, chr5 95236459 95236459 C T het . 9 +line12841 nonsynonymous SNV ERAP2:NM_001329229:exon12:c.T1862G:p.V621G,ERAP2:NM_022350:exon13:c.T1997G:p.V666G,ERAP2:NM_001130140:exon13:c.T1997G:p.V666G, chr5 96239249 96239249 T G het . 3 +line12870 nonsynonymous SNV CHD1:NM_001364113:exon4:c.C284T:p.A95V,CHD1:NM_001270:exon3:c.C284T:p.A95V, chr5 98239584 98239584 G A het . 28 +line12922 nonsynonymous SNV PPIP5K2:NM_001345876:exon12:c.T1255G:p.S419A,PPIP5K2:NM_015216:exon12:c.T1255G:p.S419A,PPIP5K2:NM_001345874:exon12:c.T1255G:p.S419A,PPIP5K2:NM_001345873:exon12:c.T1255G:p.S419A,PPIP5K2:NM_001345877:exon12:c.T1255G:p.S419A,PPIP5K2:NM_001345871:exon12:c.T1255G:p.S419A,PPIP5K2:NM_001345878:exon12:c.T1255G:p.S419A,PPIP5K2:NM_001345875:exon12:c.T1255G:p.S419A,PPIP5K2:NM_001276277:exon12:c.T1255G:p.S419A, chr5 102490411 102490411 T G het . 26 +line12926 unknown UNKNOWN chr5 102512570 102512570 - A het . 23 +line12983 nonsynonymous SNV FBXL17:NM_001163315:exon1:c.T505C:p.F169L, chr5 107716888 107716888 A G het . 7 +line13004 nonsynonymous SNV MAN2A1:NM_002372:exon8:c.C1243T:p.R415C, chr5 109110535 109110535 C T het . 29 +line13008 synonymous SNV MAN2A1:NM_002372:exon22:c.C3418A:p.R1140R, chr5 109202682 109202682 C A het . 19 +line13036 synonymous SNV CAMK4:NM_001323377:exon10:c.G420C:p.S140S,CAMK4:NM_001744:exon11:c.G1011C:p.S337S,CAMK4:NM_001323374:exon12:c.G1011C:p.S337S,CAMK4:NM_001323375:exon12:c.G1011C:p.S337S,CAMK4:NM_001323376:exon9:c.G420C:p.S140S, chr5 110819753 110819753 G C het . 8 +line13053 nonsynonymous SNV EPB41L4A:NM_022140:exon1:c.T53C:p.L18P,EPB41L4A:NM_001347888:exon1:c.T53C:p.L18P,EPB41L4A:NM_001347887:exon1:c.T53C:p.L18P, chr5 111754684 111754684 A G het . 20 +line13065 nonsynonymous SNV APC:NM_001354895:exon16:c.C3068A:p.T1023K,APC:NM_001354906:exon17:c.C2219A:p.T740K,APC:NM_001354902:exon15:c.C2795A:p.T932K,APC:NM_001354903:exon16:c.C2765A:p.T922K,APC:NM_001354904:exon16:c.C2690A:p.T897K,APC:NM_001127510:exon17:c.C3068A:p.T1023K,APC:NM_001127511:exon14:c.C3014A:p.T1005K,APC:NM_001354896:exon17:c.C3122A:p.T1041K,APC:NM_001354898:exon16:c.C2993A:p.T998K,APC:NM_001354900:exon16:c.C2945A:p.T982K,APC:NM_000038:exon16:c.C3068A:p.T1023K,APC:NM_001354901:exon15:c.C2891A:p.T964K,APC:NM_001354905:exon15:c.C2588A:p.T863K,APC:NM_001354897:exon15:c.C3098A:p.T1033K,APC:NM_001354899:exon15:c.C2984A:p.T995K, chr5 112174359 112174359 C A het . 41 +line13071 nonsynonymous SNV DCP2:NM_152624:exon1:c.T46C:p.F16L,DCP2:NM_001242377:exon1:c.T46C:p.F16L, chr5 112312676 112312676 T C het . 4 +line13075 synonymous SNV MCC:NM_002387:exon12:c.C1533T:p.N511N,MCC:NM_001085377:exon14:c.C2103T:p.N701N, chr5 112399791 112399791 G A het . 12 +line13079 nonsynonymous SNV MCC:NM_001085377:exon1:c.A73G:p.S25G, chr5 112824039 112824039 T C het . 4 +line13080 nonframeshift insertion MCC:NM_001085377:exon1:c.63_64insGGC:p.S22delinsGS, chr5 112824048 112824048 - GCC het . 2 +line13109 nonsynonymous SNV AP3S1:NM_001318094:exon5:c.C365T:p.P122L,AP3S1:NM_001364119:exon7:c.C521T:p.P174L,AP3S1:NM_001318090:exon4:c.C269T:p.P90L,AP3S1:NM_001002924:exon7:c.C407T:p.P136L,AP3S1:NM_001284:exon6:c.C473T:p.P158L,AP3S1:NM_001318091:exon5:c.C401T:p.P134L,AP3S1:NM_001364122:exon4:c.C293T:p.P98L, chr5 115249078 115249078 C T het . 14 +line13179 nonsynonymous SNV PRR16:NM_001300783:exon2:c.C437A:p.P146H,PRR16:NM_001308088:exon4:c.C227A:p.P76H,PRR16:NM_001308087:exon2:c.C227A:p.P76H,PRR16:NM_016644:exon3:c.C368A:p.P123H, chr5 120021926 120021926 C A het . 19 +line13226 nonsynonymous SNV PPIC:NM_000943:exon3:c.A257G:p.K86R, chr5 122364538 122364538 T C het . 23 +line13254 nonsynonymous SNV ZNF608:NM_020747:exon4:c.C2162A:p.T721N, chr5 123983915 123983915 G T het . 41 +line13276 nonsynonymous SNV GRAMD2B:NM_001349541:exon10:c.C855A:p.F285L,GRAMD2B:NM_001349542:exon10:c.C807A:p.F269L,GRAMD2B:NM_023927:exon10:c.C852A:p.F284L,GRAMD2B:NM_001146319:exon10:c.C897A:p.F299L,GRAMD2B:NM_001349543:exon9:c.C543A:p.F181L,GRAMD2B:NM_001146320:exon9:c.C540A:p.F180L,GRAMD2B:NM_001146322:exon10:c.C804A:p.F268L,GRAMD2B:NM_001146321:exon11:c.C876A:p.F292L,GRAMD2B:NM_001349544:exon11:c.C879A:p.F293L, chr5 125820098 125820098 C A het . 8 +line13307 nonsynonymous SNV FBN2:NM_001999:exon33:c.G4312A:p.E1438K, chr5 127666298 127666298 C T het . 29 +line13319 synonymous SNV ISOC1:NM_016048:exon1:c.T298C:p.L100L, chr5 128430757 128430757 T C het . 3 +line13356 nonsynonymous SNV SLC22A4:NM_003059:exon2:c.C479A:p.S160Y, chr5 131647939 131647939 C A het . 25 +line13360 nonsynonymous SNV SLC22A5:NM_001308122:exon10:c.C1638A:p.D546E,SLC22A5:NM_003060:exon9:c.C1566A:p.D522E, chr5 131729483 131729483 C A het . 25 +line13365 nonsynonymous SNV IL13:NM_001354992:exon6:c.A236G:p.Q79R,IL13:NM_001354993:exon5:c.A236G:p.Q79R,IL13:NM_001354991:exon5:c.A236G:p.Q79R,IL13:NM_002188:exon4:c.A431G:p.Q144R, chr5 131995964 131995964 A G het . 26 +line13366 nonsynonymous SNV IL4:NM_000589:exon4:c.A424C:p.T142P,IL4:NM_172348:exon3:c.A376C:p.T126P, chr5 132018241 132018241 A C het . 35 +line13370 nonsynonymous SNV GDF9:NM_001288824:exon3:c.G655T:p.A219S,GDF9:NM_001288828:exon4:c.G655T:p.A219S,GDF9:NM_001288827:exon4:c.G655T:p.A219S,GDF9:NM_001288826:exon4:c.G655T:p.A219S,GDF9:NM_001288825:exon4:c.G655T:p.A219S,GDF9:NM_005260:exon2:c.G919T:p.A307S, chr5 132197727 132197727 C A het . 28 +line13373 nonsynonymous SNV HSPA4:NM_002154:exon2:c.C152A:p.A51E, chr5 132400716 132400716 C A het . 25 +line13375 nonsynonymous SNV HSPA4:NM_002154:exon15:c.C1819A:p.Q607K, chr5 132432868 132432868 C A het . 26 +line13412 nonsynonymous SNV TRPC7:NM_001167577:exon5:c.G1186A:p.E396K,TRPC7:NM_001167576:exon4:c.G1021A:p.E341K,TRPC7:NM_020389:exon6:c.G1369A:p.E457K, chr5 135587547 135587547 C T het . 13 +line13426 nonsynonymous SNV SPOCK1:NM_004598:exon2:c.A110G:p.N37S, chr5 136834138 136834138 T C het . 27 +line13443 synonymous SNV WNT8A:NM_001300938:exon5:c.C930A:p.R310R,WNT8A:NM_001300939:exon5:c.C930A:p.R310R,WNT8A:NM_058244:exon6:c.C876A:p.R292R, chr5 137426582 137426582 C A het . 22 +line13450 nonframeshift deletion EGR1:NM_001964:exon1:c.183_185del:p.61_62del, chr5 137801633 137801635 CAG - het . 15 +line13472 nonsynonymous SNV MATR3:NM_001194954:exon10:c.C1349A:p.A450E,MATR3:NM_001194956:exon7:c.C485A:p.A162E,MATR3:NM_018834:exon8:c.C1349A:p.A450E,MATR3:NM_199189:exon11:c.C1349A:p.A450E,MATR3:NM_001194955:exon8:c.C1349A:p.A450E,MATR3:NM_001282278:exon10:c.C335A:p.A112E, chr5 138654637 138654637 C A het . 36 +line13473 nonsynonymous SNV MATR3:NM_001194954:exon14:c.C1835A:p.T612N,MATR3:NM_001194956:exon11:c.C971A:p.T324N,MATR3:NM_018834:exon12:c.C1835A:p.T612N,MATR3:NM_199189:exon15:c.C1835A:p.T612N,MATR3:NM_001194955:exon12:c.C1835A:p.T612N,MATR3:NM_001282278:exon14:c.C821A:p.T274N, chr5 138658343 138658343 C A het . 41 +line13476 nonsynonymous SNV PROB1:NM_001161546:exon1:c.G1436T:p.W479L, chr5 138729335 138729335 C A het . 19 +line13491 nonframeshift deletion NRG2:NM_001184935:exon1:c.91_96del:p.31_32del,NRG2:NM_013983:exon1:c.91_96del:p.31_32del,NRG2:NM_013982:exon1:c.91_96del:p.31_32del,NRG2:NM_004883:exon1:c.91_96del:p.31_32del,NRG2:NM_013981:exon1:c.91_96del:p.31_32del, chr5 139422559 139422564 CCTCTC - het . 31 +line13497 frameshift insertion SRA1:NM_001035235:exon3:c.328_329insAC:p.V110fs, chr5 139931628 139931628 - GT het . 24 +line13498 frameshift insertion SRA1:NM_001035235:exon3:c.327_328insC:p.V110fs, chr5 139931629 139931629 - G het . 24 +line13501 stopgain SRA1:NM_001253764:exon1:c.C278A:p.S93X, chr5 139936760 139936760 G T het . 9 +line13506 nonsynonymous SNV DND1:NM_194249:exon2:c.G80A:p.R27K, chr5 140052918 140052918 C T het . 39 +line13507 nonsynonymous SNV PCDHA5:NM_031501:exon1:c.C1757A:p.A586E,PCDHA5:NM_018908:exon1:c.C1757A:p.A586E, chr5 140203117 140203117 C A het . 37 +line13508 nonsynonymous SNV PCDHA8:NM_018911:exon1:c.G1544T:p.G515V,PCDHA8:NM_031856:exon1:c.G1544T:p.G515V, chr5 140222450 140222450 G T het . 24 +line13509 synonymous SNV PCDHA10:NM_031859:exon1:c.C381T:p.D127D,PCDHA10:NM_031860:exon1:c.C381T:p.D127D,PCDHA10:NM_018901:exon1:c.C381T:p.D127D, chr5 140236014 140236014 C T het . 24 +line13513 synonymous SNV PCDHB4:NM_018938:exon1:c.G597A:p.L199L, chr5 140502177 140502177 G A het . 27 +line13514 nonsynonymous SNV PCDHB4:NM_018938:exon1:c.C610A:p.Q204K, chr5 140502190 140502190 C A het . 30 +line13515 nonsynonymous SNV PCDHB4:NM_018938:exon1:c.T619G:p.F207V, chr5 140502199 140502199 T G het . 31 +line13516 nonsynonymous SNV PCDHB5:NM_015669:exon1:c.C1602A:p.D534E, chr5 140516618 140516618 C A het . 48 +line13517 nonsynonymous SNV PCDHB5:NM_015669:exon1:c.T2158C:p.S720P, chr5 140517174 140517174 T C het . 3 +line13520 unknown UNKNOWN chr5 140567322 140567322 G A het . 32 +line13521 unknown UNKNOWN chr5 140568034 140568034 - A het . 20 +line13522 nonsynonymous SNV PCDHB10:NM_018930:exon1:c.C2030T:p.A677V, chr5 140574155 140574155 C T het . 12 +line13523 synonymous SNV PCDHB13:NM_018933:exon1:c.C525T:p.P175P, chr5 140594220 140594220 C T het . 11 +line13525 nonsynonymous SNV SLC25A2:NM_031947:exon1:c.C511T:p.H171Y, chr5 140682922 140682922 G A het . 20 +line13526 nonsynonymous SNV PCDHGB2:NM_018923:exon1:c.A2059G:p.K687E,PCDHGB2:NM_032096:exon1:c.A2059G:p.K687E, chr5 140741761 140741761 A G het . 25 +line13527 synonymous SNV PCDHGB5:NM_018925:exon1:c.C603T:p.D201D,PCDHGB5:NM_032099:exon1:c.C603T:p.D201D, chr5 140778297 140778297 C T het . 17 +line13528 synonymous SNV PCDHGB5:NM_018925:exon1:c.C1962T:p.A654A,PCDHGB5:NM_032099:exon1:c.C1962T:p.A654A, chr5 140779656 140779656 C T het . 12 +line13529 stopgain PCDHGA10:NM_032090:exon1:c.C2188T:p.Q730X,PCDHGA10:NM_018913:exon1:c.C2188T:p.Q730X, chr5 140794930 140794930 C T het . 29 +line13530 nonsynonymous SNV PCDHGC3:NM_032402:exon1:c.A943G:p.T315A,PCDHGC3:NM_002588:exon1:c.A943G:p.T315A, chr5 140856626 140856626 A G het . 18 +line13531 nonsynonymous SNV PCDHGC4:NM_018928:exon1:c.C1445A:p.P482Q,PCDHGC4:NM_032406:exon1:c.C1445A:p.P482Q, chr5 140866185 140866185 C A het . 33 +line13535 nonframeshift deletion DIAPH1:NM_005219:exon16:c.1842_1853del:p.614_618del,DIAPH1:NM_001314007:exon16:c.1842_1853del:p.614_618del,DIAPH1:NM_001079812:exon15:c.1815_1826del:p.605_609del, chr5 140953564 140953575 GGAGGAGGAGGA - het . 16 +line13548 nonframeshift insertion PCDH12:NM_016580:exon4:c.3545_3546insCAGCAGCAG:p.R1182delinsSSSR, chr5 141324955 141324955 - CTGCTGCTG het . 9 +line13549 synonymous SNV PCDH12:NM_016580:exon1:c.G2847T:p.V949V, chr5 141334570 141334570 C A het . 16 +line13550 nonsynonymous SNV PCDH12:NM_016580:exon1:c.G2810T:p.R937L, chr5 141334607 141334607 C A het . 25 +line13585 nonsynonymous SNV KCTD16:NM_020768:exon3:c.G230A:p.R77K, chr5 143586507 143586507 G A het . 23 +line13587 nonsynonymous SNV KCTD16:NM_020768:exon4:c.C1048A:p.P350T, chr5 143853438 143853438 C A het . 36 +line13617 nonsynonymous SNV LARS:NM_001317964:exon5:c.T361A:p.S121T,LARS:NM_001317965:exon5:c.T337A:p.S113T,LARS:NM_020117:exon6:c.T499A:p.S167T,LARS:NM_016460:exon5:c.T418A:p.S140T, chr5 145543968 145543968 A T het . 44 +line13618 synonymous SNV LARS:NM_001317964:exon5:c.C357T:p.G119G,LARS:NM_001317965:exon5:c.C333T:p.G111G,LARS:NM_020117:exon6:c.C495T:p.G165G,LARS:NM_016460:exon5:c.C414T:p.G138G, chr5 145543972 145543972 G A het . 40 +line13627 nonsynonymous SNV POU4F3:NM_002700:exon2:c.C816A:p.S272R, chr5 145719806 145719806 C A het . 36 +line13632 synonymous SNV GPR151:NM_194251:exon1:c.G234T:p.L78L, chr5 145895443 145895443 C A het . 35 +line13682 synonymous SNV SH3TC2:NM_024577:exon11:c.G1857T:p.V619V, chr5 148407438 148407438 C A het . 33 +line13683 nonsynonymous SNV SH3TC2:NM_024577:exon11:c.G1620T:p.R540S, chr5 148407675 148407675 C A het . 30 +line13684 synonymous SNV SH3TC2:NM_024577:exon11:c.T1587G:p.R529R, chr5 148407708 148407708 A C het . 33 +line13710 nonsynonymous SNV SYNPO:NM_001109974:exon2:c.C267A:p.H89Q,SYNPO:NM_007286:exon2:c.C267A:p.H89Q,SYNPO:NM_001166209:exon3:c.C999A:p.H333Q,SYNPO:NM_001166208:exon3:c.C999A:p.H333Q, chr5 150028104 150028104 C A het . 30 +line13728 stopgain FAT2:NM_001447:exon9:c.G7996T:p.G2666X, chr5 150922692 150922692 C A het . 20 +line13729 nonsynonymous SNV FAT2:NM_001447:exon9:c.G7433T:p.S2478I, chr5 150923255 150923255 C A het . 19 +line13730 nonsynonymous SNV FAT2:NM_001447:exon1:c.T1331C:p.V444A, chr5 150947162 150947162 A G het . 15 +line13746 nonsynonymous SNV NMUR2:NM_020167:exon4:c.G1183A:p.A395T, chr5 151771817 151771817 C T het . 21 +line13747 nonsynonymous SNV NMUR2:NM_020167:exon4:c.A1162G:p.M388V, chr5 151771838 151771838 T C het . 32 +line13748 nonsynonymous SNV NMUR2:NM_020167:exon4:c.C1148T:p.P383L, chr5 151771852 151771852 G A het . 35 +line13773 nonsynonymous SNV FAM114A2:NM_001317994:exon6:c.G517T:p.G173C,FAM114A2:NM_001317995:exon5:c.G307T:p.G103C,FAM114A2:NM_001317993:exon7:c.G517T:p.G173C,FAM114A2:NM_018691:exon6:c.G517T:p.G173C, chr5 153407822 153407822 C A het . 30 +line13790 nonsynonymous SNV GEMIN5:NM_001252156:exon24:c.C3422A:p.S1141Y,GEMIN5:NM_015465:exon24:c.C3425A:p.S1142Y, chr5 154275824 154275824 G T het . 6 +line13813 synonymous SNV HAVCR1:NM_001308156:exon4:c.T621G:p.T207T,HAVCR1:NM_001173393:exon4:c.T621G:p.T207T,HAVCR1:NM_012206:exon3:c.T621G:p.T207T, chr5 156479424 156479424 A C het . 37 +line13814 nonframeshift deletion HAVCR1:NM_001308156:exon4:c.599_601del:p.200_201del,HAVCR1:NM_001173393:exon4:c.599_601del:p.200_201del,HAVCR1:NM_012206:exon3:c.599_601del:p.200_201del, chr5 156479444 156479446 TTG - het . 49 +line13844 stopgain ADRA1B:NM_000679:exon1:c.C585A:p.C195X, chr5 159344497 159344497 C A het . 11 +line13852 nonsynonymous SNV C1QTNF2:NM_031908:exon3:c.G713T:p.G238V, chr5 159776455 159776455 C A het . 35 +line13853 nonframeshift deletion SLU7:NM_001364518:exon15:c.1503_1505del:p.501_502del,SLU7:NM_001364523:exon16:c.1533_1535del:p.511_512del,SLU7:NM_001364521:exon16:c.1503_1505del:p.501_502del,SLU7:NM_001364522:exon15:c.1533_1535del:p.511_512del,SLU7:NM_006425:exon15:c.1503_1505del:p.501_502del,SLU7:NM_001364520:exon16:c.1503_1505del:p.501_502del,SLU7:NM_001364517:exon15:c.1548_1550del:p.516_517del, chr5 159831523 159831525 TTC - het . 28 +line13858 stopgain PTTG1:NM_004219:exon5:c.G427T:p.G143X,PTTG1:NM_001282382:exon4:c.G427T:p.G143X,PTTG1:NM_001282383:exon5:c.G427T:p.G143X, chr5 159854778 159854778 G T het . 28 +line13860 nonsynonymous SNV ATP10B:NM_025153:exon26:c.G4198A:p.E1400K, chr5 159992648 159992648 C T het . 26 +line13957 nonsynonymous SNV TENM2:NM_001122679:exon3:c.C548A:p.A183D, chr5 167303036 167303036 C A het . 30 +line13965 nonsynonymous SNV FBLL1:NM_001355274:exon1:c.C210A:p.D70E, chr5 167956719 167956719 C A het . 3 +line13986 synonymous SNV INSYN2B:NM_001129891:exon2:c.C1089T:p.T363T,INSYN2B:NM_001346304:exon2:c.C1089T:p.T363T, chr5 169309814 169309814 G A het . 21 +line14001 synonymous SNV KCNIP1:NM_001034837:exon6:c.G381A:p.S127S,KCNIP1:NM_014592:exon5:c.G348A:p.S116S,KCNIP1:NM_001278339:exon5:c.G423A:p.S141S,KCNIP1:NM_001034838:exon5:c.G375A:p.S125S,KCNIP1:NM_001278340:exon6:c.G264A:p.S88S, chr5 170149737 170149737 G A het . 13 +line14003 nonsynonymous SNV GABRP:NM_014211:exon10:c.C1253A:p.S418Y, chr5 170239192 170239192 C A het . 35 +line14089 nonframeshift deletion CPLX2:NM_001008220:exon4:c.322_324del:p.108_108del,CPLX2:NM_006650:exon5:c.322_324del:p.108_108del, chr5 175306965 175306967 GAG - het . 25 +line14094 frameshift insertion NOP16:NM_001256539:exon6:c.586_587insAC:p.R196fs,NOP16:NM_001256540:exon6:c.583_584insAC:p.R195fs,NOP16:NM_001291305:exon6:c.544_545insAC:p.R182fs, chr5 175811094 175811094 - GT het . 15 +line14103 synonymous SNV GPRIN1:NM_052899:exon2:c.G1956A:p.G652G, chr5 176024880 176024880 C T het . 23 +line14104 nonsynonymous SNV GPRIN1:NM_052899:exon2:c.G947T:p.G316V, chr5 176025889 176025889 C A het . 34 +line14112 nonsynonymous SNV HK3:NM_002115:exon11:c.G1375T:p.V459L, chr5 176314677 176314677 C A het . 23 +line14113 nonsynonymous SNV UIMC1:NM_001317961:exon15:c.G1537T:p.V513F,UIMC1:NM_016290:exon15:c.G2035T:p.V679F,UIMC1:NM_001199297:exon16:c.G2035T:p.V679F,UIMC1:NM_001199298:exon15:c.G2035T:p.V679F, chr5 176332408 176332408 C A het . 50 +line14122 nonsynonymous SNV RAB24:NM_001031677:exon6:c.G479T:p.S160I,RAB24:NM_130781:exon7:c.G479T:p.S160I, chr5 176729134 176729134 C A het . 34 +line14130 nonsynonymous SNV FAM193B:NM_001190946:exon6:c.T2206C:p.S736P, chr5 176951276 176951276 A G het . 8 +line14146 nonsynonymous SNV COL23A1:NM_173465:exon15:c.A859G:p.T287A, chr5 177683377 177683377 T C het . 9 +line14151 synonymous SNV ZNF354A:NM_005649:exon5:c.G654T:p.L218L,ZNF354A:NM_001324339:exon4:c.G528T:p.L176L, chr5 178140225 178140225 C A het . 42 +line14168 nonsynonymous SNV ZNF454:NM_001323308:exon5:c.A290G:p.Y97C,ZNF454:NM_001323310:exon5:c.A290G:p.Y97C,ZNF454:NM_001323309:exon5:c.A290G:p.Y97C,ZNF454:NM_001323307:exon5:c.A290G:p.Y97C, chr5 178383946 178383946 A G het . 11 +line14169 nonsynonymous SNV ZNF454:NM_001178090:exon5:c.C1231A:p.P411T,ZNF454:NM_182594:exon5:c.C1231A:p.P411T,ZNF454:NM_001178089:exon5:c.C1231A:p.P411T,ZNF454:NM_001323306:exon5:c.C1231A:p.P411T, chr5 178392636 178392636 C A het . 36 +line14177 nonsynonymous SNV ADAMTS2:NM_021599:exon6:c.G1013T:p.S338I,ADAMTS2:NM_014244:exon6:c.G1013T:p.S338I, chr5 178585843 178585843 C A het . 28 +line14197 synonymous SNV MAML1:NM_014757:exon5:c.C2511A:p.S837S, chr5 179201338 179201338 C A het . 23 +line14198 stopgain MAML1:NM_014757:exon5:c.C2871A:p.C957X, chr5 179201698 179201698 C A het . 4 +line14204 nonsynonymous SNV TBC1D9B:NM_198868:exon15:c.G2420A:p.R807Q,TBC1D9B:NM_015043:exon15:c.G2420A:p.R807Q, chr5 179298526 179298526 C T het . 12 +line14229 nonsynonymous SNV FLT4:NM_001354989:exon9:c.G1213T:p.A405S,FLT4:NM_002020:exon9:c.G1213T:p.A405S,FLT4:NM_182925:exon9:c.G1213T:p.A405S, chr5 180053156 180053156 C A het . 34 +line14231 stopgain ZFP62:NM_152283:exon3:c.G2347T:p.E783X,ZFP62:NM_001172638:exon2:c.G2446T:p.E816X, chr5 180276049 180276049 C A het . 23 +line14236 synonymous SNV BTNL9:NM_152547:exon11:c.G993T:p.T331T, chr5 180486247 180486247 G T het . 15 +line14241 synonymous SNV TRIM41:NM_201627:exon3:c.T1002G:p.R334R,TRIM41:NM_033549:exon3:c.T1002G:p.R334R, chr5 180659751 180659751 T G het . 22 +line14248 nonsynonymous SNV HUS1B:NM_148959:exon1:c.G802T:p.D268Y, chr6 656143 656143 C A het . 6 +line14256 nonframeshift insertion FOXC1:NM_001453:exon1:c.1337_1338insCGG:p.H446delinsHG, chr6 1612017 1612017 - CGG het . 6 +line14257 nonframeshift deletion FOXC1:NM_001453:exon1:c.1462_1464del:p.488_488del, chr6 1612142 1612144 GCG - het . 14 +line14264 nonsynonymous SNV WRNIP1:NM_130395:exon1:c.A26C:p.D9A,WRNIP1:NM_020135:exon1:c.A26C:p.D9A, chr6 2765882 2765882 A C het . 11 +line14265 synonymous SNV WRNIP1:NM_130395:exon1:c.T288C:p.G96G,WRNIP1:NM_020135:exon1:c.T288C:p.G96G, chr6 2766144 2766144 T C het . 8 +line14297 nonsynonymous SNV PPP1R3G:NM_001145115:exon1:c.C839A:p.P280Q, chr6 5086558 5086558 C A het . 16 +line14303 nonsynonymous SNV F13A1:NM_000129:exon6:c.G709C:p.D237H, chr6 6248634 6248634 C G het . 34 +line14311 nonsynonymous SNV RREB1:NM_001168344:exon10:c.C1673T:p.S558F,RREB1:NM_001003699:exon10:c.C1673T:p.S558F,RREB1:NM_001003700:exon10:c.C1673T:p.S558F,RREB1:NM_001003698:exon10:c.C1673T:p.S558F, chr6 7230005 7230005 C T het . 7 +line14312 nonsynonymous SNV RREB1:NM_001168344:exon11:c.G4150A:p.G1384R,RREB1:NM_001003699:exon12:c.G4315A:p.G1439R,RREB1:NM_001003698:exon11:c.G4150A:p.G1384R, chr6 7246998 7246998 G A het . 16 +line14313 nonsynonymous SNV RREB1:NM_001168344:exon11:c.C4496A:p.S1499Y,RREB1:NM_001003699:exon12:c.C4661A:p.S1554Y,RREB1:NM_001003698:exon11:c.C4496A:p.S1499Y, chr6 7247344 7247344 C A het . 30 +line14314 synonymous SNV RREB1:NM_001168344:exon11:c.G4533A:p.K1511K,RREB1:NM_001003699:exon12:c.G4698A:p.K1566K,RREB1:NM_001003698:exon11:c.G4533A:p.K1511K, chr6 7247381 7247381 G A het . 23 +line14316 nonsynonymous SNV CAGE1:NM_001170692:exon5:c.G1307T:p.S436I,CAGE1:NM_001170693:exon5:c.G1307T:p.S436I,CAGE1:NM_205864:exon4:c.G899T:p.S300I, chr6 7373745 7373745 C A het . 36 +line14318 synonymous SNV RIOK1:NM_031480:exon2:c.C192T:p.D64D, chr6 7393452 7393452 C T het . 31 +line14330 synonymous SNV DSP:NM_004415:exon24:c.G8472C:p.G2824G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_001008844:exon24:c.G6675C:p.G2225G, chr6 7585967 7585967 G C het . 8 +line14355 stopgain TFAP2A:NM_003220:exon6:c.G925T:p.E309X,TFAP2A:NM_001042425:exon6:c.G913T:p.E305X,TFAP2A:NM_001032280:exon6:c.G907T:p.E303X, chr6 10400781 10400781 C A het . 46 +line14364 synonymous SNV TMEM14B:NM_001286484:exon5:c.C273T:p.A91A,TMEM14B:NM_001127711:exon5:c.C204T:p.A68A,TMEM14B:NM_030969:exon6:c.C306T:p.A102A, chr6 10756712 10756712 C T het . 22 +line14365 nonsynonymous SNV TMEM14B:NM_001286484:exon5:c.C289T:p.R97C,TMEM14B:NM_001127711:exon5:c.C220T:p.R74C,TMEM14B:NM_030969:exon6:c.C322T:p.R108C, chr6 10756728 10756728 C T het . 24 +line14371 nonsynonymous SNV SYCP2L:NM_001040274:exon5:c.C401T:p.S134L, chr6 10898308 10898308 C T het . 14 +line14373 nonsynonymous SNV SYCP2L:NM_001040274:exon25:c.A2102G:p.N701S, chr6 10956414 10956414 A G het . 21 +line14385 nonframeshift substitution HIVEP1:NM_002114:exon4:c.3154_3155TT, chr6 12123182 12123183 CC TT het . 10 +line14443 nonsynonymous SNV KIF13A:NM_001105566:exon17:c.G1895A:p.R632H,KIF13A:NM_022113:exon17:c.G1895A:p.R632H,KIF13A:NM_001105567:exon17:c.G1895A:p.R632H,KIF13A:NM_001105568:exon17:c.G1895A:p.R632H, chr6 17817356 17817356 C T het . 16 +line14447 synonymous SNV NHLRC1:NM_198586:exon1:c.T312C:p.H104H, chr6 18122526 18122526 A G het . 20 +line14455 synonymous SNV KDM1B:NM_001364614:exon18:c.G1887A:p.L629L,KDM1B:NM_153042:exon14:c.G1191A:p.L397L, chr6 18212739 18212739 G A het . 13 +line14508 nonsynonymous SNV NRSN1:NM_080723:exon3:c.T118G:p.S40A, chr6 24134673 24134673 T G het . 20 +line14511 nonsynonymous SNV MRS2:NM_001286264:exon5:c.A478G:p.R160G, chr6 24411018 24411018 A G het . 17 +line14542 synonymous SNV SCGN:NM_006998:exon1:c.C51T:p.F17F, chr6 25652682 25652682 C T het . 12 +line14547 synonymous SNV HIST1H2AB:NM_003513:exon1:c.C156T:p.L52L, chr6 26033641 26033641 G A het . 21 +line14548 synonymous SNV HIST1H1C:NM_005319:exon1:c.T108C:p.S36S, chr6 26056549 26056549 A G het . 20 +line14552 synonymous SNV HIST1H4H:NM_003543:exon1:c.G225A:p.E75E, chr6 26285503 26285503 C T het . 16 +line14556 synonymous SNV ABT1:NM_013375:exon1:c.A123G:p.K41K, chr6 26597333 26597333 A G het . 31 +line14557 nonsynonymous SNV ABT1:NM_013375:exon3:c.C637A:p.Q213K, chr6 26598691 26598691 C A het . 12 +line14574 nonsynonymous SNV ITPR3:NM_002224:exon26:c.G3401A:p.G1134D, chr6 33644663 33644663 G A het . 22 +line14575 nonsynonymous SNV ITPR3:NM_002224:exon41:c.G5549A:p.R1850Q, chr6 33653486 33653486 G A het . 5 +line14577 nonsynonymous SNV ITPR3:NM_002224:exon53:c.C7306G:p.L2436V, chr6 33659472 33659472 C G het . 14 +line14582 nonsynonymous SNV IP6K3:NM_054111:exon3:c.G385T:p.A129S,IP6K3:NM_001142883:exon4:c.G385T:p.A129S, chr6 33695892 33695892 C A het . 8 +line14583 nonsynonymous SNV IP6K3:NM_054111:exon3:c.C280T:p.P94S,IP6K3:NM_001142883:exon4:c.C280T:p.P94S, chr6 33695997 33695997 G A het . 20 +line14595 synonymous SNV SCUBE3:NM_152753:exon4:c.C357A:p.G119G,SCUBE3:NM_001303136:exon4:c.C357A:p.G119G, chr6 35199524 35199524 C A het . 7 +line14599 synonymous SNV FANCE:NM_021922:exon2:c.A387C:p.P129P, chr6 35423662 35423662 A C het . 15 +line14615 nonframeshift substitution BRPF3:NM_015695:exon2:c.1017_1018TT, chr6 36169116 36169117 CC TT het . 6 +line14626 nonsynonymous SNV C6orf89:NM_152734:exon2:c.G111A:p.M37I,C6orf89:NM_001286635:exon3:c.G90A:p.M30I, chr6 36867310 36867310 G A het . 39 +line14628 nonsynonymous SNV FGD2:NM_173558:exon14:c.G1504A:p.D502N, chr6 36993613 36993613 G A het . 19 +line14634 nonsynonymous SNV PIM1:NM_001243186:exon1:c.C142G:p.H48D, chr6 37138220 37138220 C G het . 20 +line14665 synonymous SNV LRFN2:NM_020737:exon3:c.C1695A:p.P565P, chr6 40360357 40360357 G T het . 11 +line14668 stopgain OARD1:NM_001329691:exon4:c.C226T:p.R76X,OARD1:NM_001329686:exon4:c.C226T:p.R76X,OARD1:NM_001329689:exon3:c.C109T:p.R37X,OARD1:NM_145063:exon4:c.C226T:p.R76X,OARD1:NM_001329685:exon4:c.C226T:p.R76X,OARD1:NM_001329688:exon3:c.C226T:p.R76X,OARD1:NM_001329690:exon4:c.C226T:p.R76X,OARD1:NM_001329684:exon6:c.C226T:p.R76X,OARD1:NM_001329692:exon4:c.C226T:p.R76X,OARD1:NM_001329693:exon4:c.C226T:p.R76X, chr6 41037832 41037832 G A het . 16 +line14682 nonsynonymous SNV FRS3:NM_006653:exon4:c.G152A:p.R51Q, chr6 41743258 41743258 C T het . 5 +line14684 synonymous SNV PRICKLE4:NM_013397:exon8:c.C864T:p.L288L, chr6 41754576 41754576 C T het . 5 +line14689 synonymous SNV C6orf132:NM_001164446:exon4:c.G1362C:p.A454A, chr6 42074288 42074288 C G het . 14 +line14695 nonsynonymous SNV TRERF1:NM_033502:exon5:c.G356A:p.G119D,TRERF1:NM_001297573:exon5:c.G356A:p.G119D, chr6 42236973 42236973 C T het . 10 +line14705 nonsynonymous SNV BICRAL:NM_001318819:exon13:c.C2359A:p.P787T,BICRAL:NM_015349:exon11:c.C2359A:p.P787T, chr6 42830257 42830257 C A het . 12 +line14708 nonsynonymous SNV PEX6:NM_001316313:exon17:c.C2552A:p.P851Q,PEX6:NM_000287:exon17:c.C2816A:p.P939Q, chr6 42932200 42932200 G T het . 15 +line14709 synonymous SNV PEX6:NM_001316313:exon17:c.G2550A:p.E850E,PEX6:NM_000287:exon17:c.G2814A:p.E938E, chr6 42932202 42932202 C T het . 15 +line14710 synonymous SNV PEX6:NM_000287:exon1:c.G711T:p.P237P, chr6 42946178 42946178 C A het . 26 +line14715 nonframeshift substitution CUL7:NM_001168370:exon11:c.2690_2691GG,CUL7:NM_014780:exon11:c.2438_2439GG, chr6 43014298 43014299 TT CC het . 19 +line14717 nonsynonymous SNV CUL9:NM_015089:exon7:c.G1849A:p.E617K, chr6 43155718 43155718 G A het . 11 +line14720 nonsynonymous SNV ZNF318:NM_014345:exon4:c.G2212T:p.V738F, chr6 43322860 43322860 C A het . 22 +line14723 synonymous SNV GTPBP2:NM_019096:exon7:c.C1011T:p.L337L,GTPBP2:NM_001286216:exon7:c.C747T:p.L249L, chr6 43592336 43592336 G A het . 25 +line14753 nonsynonymous SNV TDRD6:NM_001010870:exon1:c.C2683A:p.P895T,TDRD6:NM_001168359:exon1:c.C2683A:p.P895T, chr6 46658548 46658548 C A het . 29 +line14763 nonsynonymous SNV CD2AP:NM_012120:exon13:c.C1367A:p.P456Q, chr6 47567129 47567129 C A het . 34 +line14766 synonymous SNV ADGRF2:NM_153839:exon7:c.C816A:p.I272I, chr6 47649315 47649315 C A het . 24 +line14771 nonsynonymous SNV ADGRF4:NM_001347855:exon6:c.G1028T:p.R343L,ADGRF4:NM_153838:exon6:c.G1028T:p.R343L, chr6 47682009 47682009 G T het . 28 +line14803 nonsynonymous SNV PKHD1:NM_138694:exon61:c.C10915T:p.P3639S, chr6 51524009 51524009 G A het . 13 +line14805 nonsynonymous SNV PKHD1:NM_138694:exon55:c.A8581G:p.S2861G,PKHD1:NM_170724:exon55:c.A8581G:p.S2861G, chr6 51637561 51637561 T C het . 27 +line14809 nonsynonymous SNV PKHD1:NM_138694:exon39:c.G6453T:p.K2151N,PKHD1:NM_170724:exon39:c.G6453T:p.K2151N, chr6 51776634 51776634 C A het . 38 +line14812 synonymous SNV PKHD1:NM_138694:exon4:c.C234T:p.D78D,PKHD1:NM_170724:exon4:c.C234T:p.D78D, chr6 51947237 51947237 G A het . 24 +line14813 nonsynonymous SNV PKHD1:NM_138694:exon4:c.G223T:p.V75F,PKHD1:NM_170724:exon4:c.G223T:p.V75F, chr6 51947248 51947248 C A het . 27 +line14828 nonsynonymous SNV GSTA5:NM_153699:exon4:c.G163A:p.V55I, chr6 52701143 52701143 C T het . 21 +line14836 stopgain GCM1:NM_003643:exon6:c.G790T:p.E264X, chr6 52993525 52993525 C A het . 14 +line14862 nonsynonymous SNV FAM83B:NM_001010872:exon5:c.C758A:p.A253D, chr6 54804527 54804527 C A het . 5 +line14867 nonsynonymous SNV HCRTR2:NM_001526:exon3:c.C334A:p.L112M, chr6 55113547 55113547 C A het . 29 +line14885 nonsynonymous SNV COL21A1:NM_030820:exon2:c.G76A:p.E26K,COL21A1:NM_001318752:exon2:c.G76A:p.E26K,COL21A1:NM_001318751:exon3:c.G76A:p.E26K, chr6 56047341 56047341 C T het . 20 +line14889 nonsynonymous SNV DST:NM_001144770:exon44:c.C6761T:p.T2254I,DST:NM_001144769:exon46:c.C7175T:p.T2392I,DST:NM_015548:exon33:c.C5663T:p.T1888I,DST:NM_183380:exon43:c.C6641T:p.T2214I, chr6 56437567 56437567 G A het . 19 +line14897 nonsynonymous SNV RAB23:NM_183227:exon4:c.T301G:p.S101A,RAB23:NM_001278667:exon4:c.T301G:p.S101A,RAB23:NM_001278668:exon4:c.T301G:p.S101A,RAB23:NM_016277:exon4:c.T301G:p.S101A,RAB23:NM_001278666:exon4:c.T301G:p.S101A, chr6 57061345 57061345 A C het . 36 +line15093 unknown UNKNOWN chr6 57398163 57398163 A G het . 30 +line15094 unknown UNKNOWN chr6 57398186 57398186 - A het . 41 +line15095 unknown UNKNOWN chr6 57398201 57398201 T C het . 53 +line15096 unknown UNKNOWN chr6 57398207 57398207 G T het . 56 +line15097 unknown UNKNOWN chr6 57398226 57398226 T G het . 58 +line15543 nonsynonymous SNV PHF3:NM_001290259:exon9:c.T2645C:p.F882S,PHF3:NM_015153:exon7:c.T2909C:p.F970S, chr6 64408422 64408422 T C het . 33 +line15544 synonymous SNV PHF3:NM_001290259:exon11:c.C2889T:p.T963T,PHF3:NM_015153:exon9:c.C3153T:p.T1051T, chr6 64412451 64412451 C T het . 38 +line15546 nonsynonymous SNV EYS:NM_001142800:exon40:c.A7796G:p.H2599R,EYS:NM_001292009:exon40:c.A7796G:p.H2599R, chr6 64488001 64488001 T C het . 16 +line15596 nonsynonymous SNV ADGRB3:NM_001704:exon29:c.C4072A:p.Q1358K, chr6 70071237 70071237 C A het . 32 +line15603 nonsynonymous SNV COL19A1:NM_001858:exon19:c.A1435G:p.K479E, chr6 70847628 70847628 A G het . 22 +line15604 nonframeshift deletion COL19A1:NM_001858:exon32:c.2133_2135del:p.711_712del, chr6 70866072 70866074 AGA - het . 16 +line15607 synonymous SNV COL19A1:NM_001858:exon51:c.A3339C:p.P1113P, chr6 70916888 70916888 A C het . 8 +line15608 nonsynonymous SNV COL9A1:NM_001851:exon5:c.G516T:p.L172F, chr6 71004050 71004050 C A het . 36 +line15612 nonsynonymous SNV FAM135A:NM_001331004:exon15:c.C2404A:p.P802T,FAM135A:NM_001331006:exon18:c.C2497A:p.P833T,FAM135A:NM_001351600:exon15:c.C3679A:p.P1227T,FAM135A:NM_001105531:exon16:c.C3091A:p.P1031T,FAM135A:NM_001351609:exon18:c.C2239A:p.P747T,FAM135A:NM_001331000:exon14:c.C2992A:p.P998T,FAM135A:NM_001330997:exon15:c.C3091A:p.P1031T,FAM135A:NM_001331001:exon15:c.C3091A:p.P1031T,FAM135A:NM_001331002:exon16:c.C3091A:p.P1031T,FAM135A:NM_001330998:exon17:c.C3169A:p.P1057T,FAM135A:NM_001330995:exon17:c.C2419A:p.P807T,FAM135A:NM_001162529:exon16:c.C3679A:p.P1227T,FAM135A:NM_001330999:exon17:c.C3757A:p.P1253T,FAM135A:NM_001351607:exon17:c.C3679A:p.P1227T,FAM135A:NM_001351608:exon16:c.C2833A:p.P945T,FAM135A:NM_001351602:exon16:c.C3679A:p.P1227T,FAM135A:NM_001331005:exon14:c.C3580A:p.P1194T,FAM135A:NM_001330996:exon16:c.C3757A:p.P1253T,FAM135A:NM_001351599:exon16:c.C3757A:p.P1253T,FAM135A:NM_020819:exon15:c.C3040A:p.P1014T,FAM135A:NM_001331003:exon17:c.C3169A:p.P1057T, chr6 71238059 71238059 C A het . 17 +line15615 frameshift deletion SMAP1:NM_001281439:exon5:c.425delA:p.E142fs,SMAP1:NM_021940:exon5:c.425delA:p.E142fs,SMAP1:NM_001281440:exon6:c.476delA:p.E159fs,SMAP1:NM_001044305:exon6:c.506delA:p.E169fs, chr6 71508370 71508370 A - het . 19 +line15652 synonymous SNV CGAS:NM_138441:exon2:c.C867T:p.N289N, chr6 74155261 74155261 G A het . 18 +line15684 stopgain COL12A1:NM_004370:exon14:c.G2845T:p.G949X, chr6 75875361 75875361 C A het . 36 +line15689 nonsynonymous SNV MYO6:NM_001300899:exon5:c.A313G:p.K105E,MYO6:NM_004999:exon5:c.A313G:p.K105E, chr6 76540184 76540184 A G het . 47 +line15711 nonsynonymous SNV PHIP:NM_017934:exon40:c.G4890T:p.Q1630H, chr6 79650986 79650986 C A het . 29 +line15746 nonsynonymous SNV TPBG:NM_001166392:exon2:c.C353T:p.A118V,TPBG:NM_006670:exon3:c.C353T:p.A118V, chr6 83075031 83075031 C T het . 9 +line15767 synonymous SNV CEP162:NM_001286206:exon15:c.A1749G:p.E583E,CEP162:NM_014895:exon15:c.A1977G:p.E659E, chr6 84884494 84884494 T C het . 29 +line15772 nonsynonymous SNV NT5E:NM_002526:exon1:c.C166T:p.R56C,NT5E:NM_001204813:exon1:c.C166T:p.R56C, chr6 86160023 86160023 C T het . 27 +line15789 nonsynonymous SNV HTR1E:NM_000865:exon2:c.C849A:p.S283R, chr6 87725901 87725901 C A het . 12 +line15795 nonsynonymous SNV ZNF292:NM_015021:exon8:c.G6133A:p.V2045I,ZNF292:NM_001351444:exon9:c.G5713A:p.V1905I, chr6 87969480 87969480 G A het . 21 +line15796 nonsynonymous SNV ZNF292:NM_015021:exon8:c.G7286A:p.R2429Q,ZNF292:NM_001351444:exon9:c.G6866A:p.R2289Q, chr6 87970633 87970633 G A het . 31 +line15828 nonsynonymous SNV GABRR2:NM_002043:exon9:c.C1289T:p.T430M, chr6 89967498 89967498 G A het . 39 +line15832 nonsynonymous SNV MDN1:NM_014611:exon89:c.C14995T:p.P4999S, chr6 90368355 90368355 G A het . 9 +line15833 nonsynonymous SNV MDN1:NM_014611:exon58:c.A8915C:p.H2972P, chr6 90409402 90409402 T G het . 17 +line15835 synonymous SNV MDN1:NM_014611:exon3:c.T396C:p.D132D, chr6 90504454 90504454 A G het . 19 +line15839 nonframeshift deletion MAP3K7:NM_145331:exon1:c.33_35del:p.11_12del,MAP3K7:NM_003188:exon1:c.33_35del:p.11_12del,MAP3K7:NM_145332:exon1:c.33_35del:p.11_12del,MAP3K7:NM_145333:exon1:c.33_35del:p.11_12del, chr6 91296568 91296570 GAG - het . 8 +line15896 synonymous SNV PNISR:NM_001322415:exon4:c.A303C:p.P101P,PNISR:NM_001322413:exon4:c.A303C:p.P101P,PNISR:NM_001322412:exon5:c.A303C:p.P101P,PNISR:NM_015491:exon4:c.A303C:p.P101P,PNISR:NM_001322405:exon5:c.A303C:p.P101P,PNISR:NM_001322408:exon4:c.A303C:p.P101P,PNISR:NM_032870:exon5:c.A303C:p.P101P,PNISR:NM_001322414:exon5:c.A303C:p.P101P,PNISR:NM_001322410:exon5:c.A303C:p.P101P,PNISR:NM_001322406:exon6:c.A303C:p.P101P,PNISR:NM_001322417:exon5:c.A303C:p.P101P,PNISR:NM_001322416:exon5:c.A303C:p.P101P, chr6 99858815 99858815 T G het . 8 +line15899 nonsynonymous SNV MCHR2:NM_001040179:exon4:c.G455A:p.R152Q,MCHR2:NM_032503:exon4:c.G455A:p.R152Q, chr6 100390957 100390957 C T het . 18 +line15900 nonsynonymous SNV MCHR2:NM_001040179:exon3:c.G362T:p.S121I,MCHR2:NM_032503:exon3:c.G362T:p.S121I, chr6 100395668 100395668 C A het . 11 +line15901 nonsynonymous SNV MCHR2:NM_001040179:exon3:c.G226T:p.A76S,MCHR2:NM_032503:exon3:c.G226T:p.A76S, chr6 100395804 100395804 C A het . 22 +line15907 nonsynonymous SNV ASCC3:NM_006828:exon41:c.G6385T:p.A2129S, chr6 100957884 100957884 C A het . 33 +line15963 nonsynonymous SNV CRYBG1:NM_001624:exon1:c.T673G:p.S225A, chr6 106960889 106960889 T G het . 14 +line15973 stopgain BEND3:NM_001080450:exon5:c.G2419T:p.E807X, chr6 107389976 107389976 C A het . 14 +line16003 nonframeshift deletion AK9:NM_001145128:exon19:c.2108_2110del:p.703_704del, chr6 109906330 109906332 CTT - het . 16 +line16016 stopgain SLC22A16:NM_033125:exon2:c.G502T:p.G168X, chr6 110777772 110777772 C A het . 7 +line16026 synonymous SNV REV3L:NM_002912:exon14:c.G4290A:p.V1430V,REV3L:NM_001286432:exon15:c.G4056A:p.V1352V,REV3L:NM_001286431:exon16:c.G4056A:p.V1352V, chr6 111695268 111695268 C T het . 23 +line16028 nonsynonymous SNV FYN:NM_002037:exon12:c.G1264T:p.A422S,FYN:NM_153048:exon9:c.G1099T:p.A367S,FYN:NM_153047:exon9:c.G1255T:p.A419S, chr6 112015587 112015587 C A het . 15 +line16066 nonsynonymous SNV HS3ST5:NM_153612:exon2:c.T740A:p.I247N, chr6 114378722 114378722 A T het . 31 +line16080 nonsynonymous SNV FRK:NM_002031:exon1:c.G117T:p.Q39H, chr6 116381358 116381358 C A het . 24 +line16083 nonsynonymous SNV TSPYL1:NM_003309:exon1:c.G541A:p.A181T, chr6 116600453 116600453 C T het . 43 +line16084 nonframeshift insertion TSPYL1:NM_003309:exon1:c.528_529insGTG:p.K177delinsVK, chr6 116600465 116600465 - CAC het . 46 +line16090 nonsynonymous SNV RSPH4A:NM_001010892:exon6:c.C2084A:p.A695E, chr6 116953537 116953537 C A het . 29 +line16100 nonsynonymous SNV ROS1:NM_002944:exon21:c.G3381T:p.Q1127H, chr6 117683766 117683766 C A het . 19 +line16162 synonymous SNV TRDN:NM_006073:exon22:c.T1401A:p.S467S, chr6 123658783 123658783 A T het . 17 +line16168 nonsynonymous SNV TRDN:NM_001251987:exon7:c.C601G:p.L201V,TRDN:NM_001256021:exon7:c.C601G:p.L201V,TRDN:NM_006073:exon7:c.C601G:p.L201V,TRDN:NM_001256020:exon7:c.C601G:p.L201V, chr6 123833457 123833457 G C het . 27 +line16184 nonsynonymous SNV NCOA7:NM_001199622:exon1:c.C20A:p.P7H, chr6 126240522 126240522 C A het . 24 +line16191 nonsynonymous SNV ECHDC1:NM_018479:exon2:c.G129T:p.Q43H,ECHDC1:NM_001139510:exon2:c.G147T:p.Q49H,ECHDC1:NM_001002030:exon2:c.G129T:p.Q43H, chr6 127652045 127652045 C A het . 43 +line16196 nonsynonymous SNV THEMIS:NM_001164687:exon3:c.G505A:p.D169N,THEMIS:NM_001010923:exon3:c.G610A:p.D204N,THEMIS:NM_001318531:exon4:c.G319A:p.D107N,THEMIS:NM_001164685:exon3:c.G610A:p.D204N, chr6 128150720 128150720 C T het . 13 +line16202 synonymous SNV PTPRK:NM_002844:exon11:c.T1842C:p.T614T,PTPRK:NM_001135648:exon11:c.T1842C:p.T614T,PTPRK:NM_001291983:exon10:c.T1455C:p.T485T,PTPRK:NM_001291981:exon11:c.T1842C:p.T614T,PTPRK:NM_001291982:exon11:c.T1842C:p.T614T,PTPRK:NM_001291984:exon11:c.T1842C:p.T614T, chr6 128399999 128399999 A G het . 17 +line16229 synonymous SNV TMEM200A:NM_052913:exon2:c.C1011T:p.S337S,TMEM200A:NM_001258276:exon2:c.C1011T:p.S337S,TMEM200A:NM_001258277:exon3:c.C1011T:p.S337S,TMEM200A:NM_001258278:exon2:c.C1011T:p.S337S, chr6 130762578 130762578 C T het . 7 +line16246 synonymous SNV VNN1:NM_004666:exon5:c.G906A:p.S302S, chr6 133013644 133013644 C T het . 16 +line16248 nonsynonymous SNV VNN2:NM_004665:exon3:c.G520A:p.V174M,VNN2:NM_078488:exon4:c.G361A:p.V121M,VNN2:NM_001242350:exon3:c.G520A:p.V174M, chr6 133076999 133076999 C T het . 8 +line16280 synonymous SNV AHI1:NM_001134831:exon17:c.A2286G:p.G762G,AHI1:NM_001134832:exon16:c.A2286G:p.G762G,AHI1:NM_017651:exon16:c.A2286G:p.G762G,AHI1:NM_001350504:exon17:c.A2286G:p.G762G,AHI1:NM_001350503:exon17:c.A2286G:p.G762G,AHI1:NM_001134830:exon15:c.A2286G:p.G762G, chr6 135752433 135752433 T C het . 8 +line16294 nonsynonymous SNV BCLAF1:NM_014739:exon8:c.C1993G:p.H665D,BCLAF1:NM_001077441:exon8:c.C1474G:p.H492D,BCLAF1:NM_001077440:exon8:c.C1987G:p.H663D,BCLAF1:NM_001363659:exon8:c.C1993G:p.H665D,BCLAF1:NM_001301038:exon8:c.C1987G:p.H663D, chr6 136593183 136593183 G C het . 42 +line16295 nonsynonymous SNV BCLAF1:NM_014739:exon7:c.A1886G:p.N629S,BCLAF1:NM_001077441:exon7:c.A1367G:p.N456S,BCLAF1:NM_001077440:exon7:c.A1880G:p.N627S,BCLAF1:NM_001363659:exon7:c.A1886G:p.N629S,BCLAF1:NM_001301038:exon7:c.A1880G:p.N627S, chr6 136594292 136594292 T C het . 27 +line16297 nonsynonymous SNV BCLAF1:NM_014739:exon3:c.C56T:p.S19F,BCLAF1:NM_001077441:exon3:c.C56T:p.S19F,BCLAF1:NM_001077440:exon3:c.C56T:p.S19F,BCLAF1:NM_001363659:exon3:c.C56T:p.S19F,BCLAF1:NM_001301038:exon3:c.C56T:p.S19F, chr6 136600949 136600949 G A het . 23 +line16299 nonsynonymous SNV MAP7:NM_001198615:exon13:c.A1714G:p.K572E,MAP7:NM_003980:exon13:c.A1759G:p.K587E,MAP7:NM_001198611:exon12:c.A1714G:p.K572E,MAP7:NM_001198618:exon13:c.A1321G:p.K441E,MAP7:NM_001198608:exon13:c.A1825G:p.K609E,MAP7:NM_001198617:exon11:c.A1477G:p.K493E,MAP7:NM_001198619:exon13:c.A1321G:p.K441E,MAP7:NM_001198616:exon12:c.A1648G:p.K550E,MAP7:NM_001198614:exon14:c.A1825G:p.K609E,MAP7:NM_001198609:exon13:c.A1849G:p.K617E, chr6 136681879 136681879 T C het . 36 +line16305 nonsynonymous SNV IL20RA:NM_001278723:exon6:c.G696T:p.Q232H,IL20RA:NM_014432:exon7:c.G1029T:p.Q343H,IL20RA:NM_001278724:exon6:c.G630T:p.Q210H,IL20RA:NM_001278722:exon7:c.G882T:p.Q294H, chr6 137323328 137323328 C A het . 28 +line16314 synonymous SNV PERP:NM_022121:exon2:c.A303T:p.G101G, chr6 138417543 138417543 T A het . 13 +line16333 nonsynonymous SNV CITED2:NM_006079:exon2:c.G740T:p.W247L,CITED2:NM_001168388:exon2:c.G740T:p.W247L,CITED2:NM_001168389:exon2:c.G755T:p.W252L, chr6 139694342 139694342 C A het . 35 +line16334 nonsynonymous SNV CITED2:NM_006079:exon2:c.G467T:p.C156F,CITED2:NM_001168388:exon2:c.G467T:p.C156F,CITED2:NM_001168389:exon2:c.G482T:p.C161F, chr6 139694615 139694615 C A het . 4 +line16353 nonsynonymous SNV ADGRG6:NM_001032395:exon21:c.T3125G:p.V1042G,ADGRG6:NM_020455:exon22:c.T3209G:p.V1070G,ADGRG6:NM_001032394:exon21:c.T3125G:p.V1042G,ADGRG6:NM_198569:exon22:c.T3209G:p.V1070G, chr6 142741131 142741131 T G het . 27 +line16357 nonsynonymous SNV FUCA2:NM_032020:exon2:c.G259T:p.V87L, chr6 143828527 143828527 C A het . 15 +line16378 nonsynonymous SNV GRM1:NM_001278065:exon8:c.T2396A:p.L799Q,GRM1:NM_001278067:exon7:c.T2396A:p.L799Q,GRM1:NM_001278066:exon7:c.T2396A:p.L799Q,GRM1:NM_001278064:exon7:c.T2396A:p.L799Q, chr6 146720571 146720571 T A het . 40 +line16379 synonymous SNV GRM1:NM_001278065:exon8:c.C2463A:p.L821L,GRM1:NM_001278067:exon7:c.C2463A:p.L821L,GRM1:NM_001278066:exon7:c.C2463A:p.L821L,GRM1:NM_001278064:exon7:c.C2463A:p.L821L, chr6 146720638 146720638 C A het . 30 +line16384 nonsynonymous SNV ADGB:NM_024694:exon31:c.T4124A:p.F1375Y, chr6 147105842 147105842 T A het . 22 +line16396 nonsynonymous SNV SASH1:NM_001346505:exon6:c.G321T:p.K107N,SASH1:NM_001346506:exon7:c.G84T:p.K28N,SASH1:NM_015278:exon6:c.G456T:p.K152N, chr6 148792581 148792581 G T het . 12 +line16427 nonframeshift insertion AKAP12:NM_005100:exon4:c.4590_4591insGAG:p.I1530delinsIE,AKAP12:NM_144497:exon2:c.4296_4297insGAG:p.I1432delinsIE, chr6 151674116 151674116 - GAG het . 32 +line16428 nonsynonymous SNV ZBTB2:NM_020861:exon3:c.G1204C:p.A402P, chr6 151686997 151686997 C G het . 23 +line16442 nonsynonymous SNV SYNE1:NM_033071:exon91:c.G17169T:p.Q5723H,SYNE1:NM_182961:exon92:c.G17382T:p.Q5794H, chr6 152623163 152623163 C A het . 48 +line16448 nonsynonymous SNV SYNE1:NM_033071:exon77:c.G12637T:p.A4213S,SYNE1:NM_182961:exon78:c.G12850T:p.A4284S, chr6 152652970 152652970 C A het . 32 +line16451 synonymous SNV SYNE1:NM_033071:exon63:c.T10077C:p.S3359S,SYNE1:NM_182961:exon63:c.T10056C:p.S3352S, chr6 152686071 152686071 A G het . 24 +line16452 nonsynonymous SNV SYNE1:NM_033071:exon63:c.C10058A:p.S3353Y,SYNE1:NM_182961:exon63:c.C10037A:p.S3346Y, chr6 152686090 152686090 G T het . 33 +line16453 nonsynonymous SNV SYNE1:NM_033071:exon8:c.A431G:p.E144G,SYNE1:NM_182961:exon8:c.A410G:p.E137G, chr6 152831499 152831499 T C het . 38 +line16486 synonymous SNV TFB1M:NM_016020:exon5:c.G633A:p.T211T,TFB1M:NM_001350502:exon5:c.G348A:p.T116T,TFB1M:NM_001350501:exon5:c.G633A:p.T211T, chr6 155606325 155606325 C T het . 27 +line16503 nonsynonymous SNV SYNJ2:NM_001178088:exon14:c.C1256T:p.T419M,SYNJ2:NM_003898:exon15:c.C1967T:p.T656M, chr6 158492660 158492660 C T het . 7 +line16504 synonymous SNV SYNJ2:NM_001178088:exon22:c.G2592A:p.R864R,SYNJ2:NM_003898:exon23:c.G3303A:p.R1101R, chr6 158507981 158507981 G A het . 6 +line16505 synonymous SNV SYNJ2:NM_001178088:exon23:c.A2691G:p.G897G,SYNJ2:NM_003898:exon24:c.A3402G:p.G1134G, chr6 158509750 158509750 A G het . 12 +line16517 nonsynonymous SNV TAGAP:NM_152133:exon9:c.G1114T:p.A372S,TAGAP:NM_054114:exon10:c.G1648T:p.A550S,TAGAP:NM_001278733:exon6:c.G1459T:p.A487S, chr6 159457407 159457407 C A het . 29 +line16519 nonsynonymous SNV FNDC1:NM_032532:exon11:c.C3007G:p.Q1003E, chr6 159654551 159654551 C G het . 3 +line16520 nonframeshift deletion FNDC1:NM_032532:exon11:c.3535_3537del:p.1179_1179del, chr6 159655079 159655081 GAC - het . 17 +line16521 nonsynonymous SNV FNDC1:NM_032532:exon11:c.C3540G:p.D1180E, chr6 159655084 159655084 C G het . 17 +line16522 synonymous SNV FNDC1:NM_032532:exon11:c.A3558G:p.G1186G, chr6 159655102 159655102 A G het . 17 +line16523 synonymous SNV FNDC1:NM_032532:exon11:c.A3738C:p.P1246P, chr6 159655282 159655282 A C het . 9 +line16524 synonymous SNV FNDC1:NM_032532:exon11:c.A3744C:p.P1248P, chr6 159655288 159655288 A C het . 8 +line16525 nonsynonymous SNV FNDC1:NM_032532:exon11:c.A3748C:p.S1250R, chr6 159655292 159655292 A C het . 9 +line16526 nonsynonymous SNV FNDC1:NM_032532:exon11:c.T3782C:p.L1261P, chr6 159655326 159655326 T C het . 16 +line16549 nonsynonymous SNV SLC22A1:NM_003057:exon2:c.G480C:p.L160F,SLC22A1:NM_153187:exon2:c.G480C:p.L160F, chr6 160551204 160551204 G C het . 14 +line16564 nonsynonymous SNV LPA:NM_005577:exon37:c.G5653A:p.E1885K, chr6 160961157 160961157 C T het . 29 +line16567 nonsynonymous SNV LPA:NM_005577:exon27:c.A4195C:p.T1399P, chr6 161006172 161006172 T G het . 14 +line16568 nonsynonymous SNV LPA:NM_005577:exon26:c.C4072G:p.L1358V, chr6 161007538 161007538 G C het . 24 +line16569 nonsynonymous SNV LPA:NM_005577:exon26:c.C3991A:p.R1331S, chr6 161007619 161007619 G T het . 12 +line16579 nonframeshift deletion MAP3K4:NM_001301072:exon17:c.3554_3556del:p.1185_1186del,MAP3K4:NM_005922:exon17:c.3566_3568del:p.1189_1190del,MAP3K4:NM_001291958:exon18:c.1925_1927del:p.642_643del, chr6 161519351 161519353 CTG - het . 16 +line16613 synonymous SNV PRR18:NM_175922:exon1:c.C825G:p.S275S, chr6 166720806 166720806 G C het . 5 +line16627 nonsynonymous SNV TTLL2:NM_031949:exon3:c.C1574A:p.A525E, chr6 167754962 167754962 C A het . 22 +line16637 synonymous SNV FRMD1:NM_024919:exon1:c.C207T:p.A69A, chr6 168479568 168479568 G A het . 5 +line16638 synonymous SNV FRMD1:NM_024919:exon1:c.C171T:p.L57L, chr6 168479604 168479604 G A het . 9 +line16656 synonymous SNV FAM120B:NM_032448:exon2:c.G1173A:p.T391T,FAM120B:NM_001286379:exon2:c.G1209A:p.T403T,FAM120B:NM_001286380:exon2:c.G1242A:p.T414T, chr6 170627651 170627651 G A het . 8 +line16658 nonframeshift insertion TBP:NM_003194:exon3:c.189_190insCAG:p.Q63delinsQQ,TBP:NM_001172085:exon2:c.129_130insCAG:p.Q43delinsQQ, chr6 170871013 170871013 - CAG het . 26 +line16686 nonsynonymous SNV SUN1:NM_001171945:exon7:c.C557A:p.A186D,SUN1:NM_001130965:exon5:c.C494A:p.A165D,SUN1:NM_001171946:exon6:c.C494A:p.A165D,SUN1:NM_025154:exon5:c.C344A:p.A115D, chr7 882993 882993 C A het . 31 +line16687 nonsynonymous SNV SUN1:NM_001130965:exon17:c.G2143A:p.V715I,SUN1:NM_025154:exon16:c.G1894A:p.V632I,SUN1:NM_001171944:exon15:c.G1834A:p.V612I, chr7 909148 909148 G A het . 6 +line16720 nonsynonymous SNV MICALL2:NM_182924:exon3:c.G221T:p.G74V, chr7 1488369 1488369 C A het . 25 +line16730 synonymous SNV INTS1:NM_001080453:exon8:c.C1134T:p.P378P, chr7 1538614 1538614 G A het . 6 +line16735 nonframeshift insertion TMEM184A:NM_001097620:exon9:c.1176_1177insGGC:p.S393delinsGS, chr7 1586653 1586653 - GCC het . 16 +line16736 nonsynonymous SNV TMEM184A:NM_001097620:exon9:c.A1168G:p.S390G, chr7 1586662 1586662 T C het . 20 +line16755 nonsynonymous SNV CHST12:NM_018641:exon2:c.C854A:p.P285H,CHST12:NM_001243795:exon2:c.C854A:p.P285H,CHST12:NM_001243794:exon2:c.C854A:p.P285H, chr7 2473128 2473128 C A het . 33 +line16768 nonsynonymous SNV AMZ1:NM_001321766:exon3:c.C428A:p.S143Y,AMZ1:NM_001284355:exon3:c.C428A:p.S143Y,AMZ1:NM_133463:exon3:c.C428A:p.S143Y, chr7 2742479 2742479 C A het . 19 +line16793 nonsynonymous SNV SDK1:NM_152744:exon25:c.G3636T:p.R1212S, chr7 4153719 4153719 G T het . 6 +line16847 nonsynonymous SNV PMS2:NM_001322009:exon11:c.G1283T:p.R428L,PMS2:NM_001322004:exon10:c.G1283T:p.R428L,PMS2:NM_001322006:exon10:c.G1532T:p.R511L,PMS2:NM_001322008:exon9:c.G1370T:p.R457L,PMS2:NM_001322012:exon11:c.G755T:p.R252L,PMS2:NM_001322014:exon11:c.G1688T:p.R563L,PMS2:NM_001322013:exon10:c.G1115T:p.R372L,PMS2:NM_001322010:exon9:c.G1127T:p.R376L,PMS2:NM_001322005:exon11:c.G1283T:p.R428L,PMS2:NM_000535:exon11:c.G1688T:p.R563L,PMS2:NM_001322011:exon11:c.G755T:p.R252L,PMS2:NM_001322007:exon10:c.G1370T:p.R457L,PMS2:NM_001322015:exon11:c.G1379T:p.R460L,PMS2:NM_001322003:exon11:c.G1283T:p.R428L, chr7 6026708 6026708 C A het . 44 +line16857 synonymous SNV EIF2AK1:NM_001134335:exon1:c.C90G:p.P30P,EIF2AK1:NM_014413:exon1:c.C90G:p.P30P, chr7 6098625 6098625 G C het . 15 +line16860 nonsynonymous SNV USP42:NM_032172:exon4:c.C497T:p.A166V, chr7 6175526 6175526 C T het . 28 +line16863 synonymous SNV USP42:NM_032172:exon15:c.A3357C:p.A1119A, chr7 6194542 6194542 A C het . 15 +line16883 synonymous SNV DAGLB:NM_001142936:exon3:c.C393T:p.N131N,DAGLB:NM_139179:exon3:c.C393T:p.N131N, chr7 6476019 6476019 G A het . 20 +line16888 synonymous SNV GRID2IP:NM_001145118:exon20:c.C3363T:p.S1121S, chr7 6541448 6541448 G A het . 20 +line16890 synonymous SNV GRID2IP:NM_001145118:exon17:c.C2961T:p.A987A, chr7 6542741 6542741 G A het . 8 +line16892 synonymous SNV GRID2IP:NM_001145118:exon12:c.G1839A:p.P613P, chr7 6548877 6548877 C T het . 5 +line16896 nonsynonymous SNV GRID2IP:NM_001145118:exon1:c.T170G:p.V57G, chr7 6590898 6590898 A C het . 12 +line16897 nonsynonymous SNV GRID2IP:NM_001145118:exon1:c.T164G:p.L55R, chr7 6590904 6590904 A C het . 11 +line16904 synonymous SNV C7orf26:NM_001303039:exon7:c.T1005C:p.H335H,C7orf26:NM_024067:exon6:c.T1296C:p.H432H, chr7 6647738 6647738 T C het . 3 +line16906 nonsynonymous SNV ZNF853:NM_001353546:exon3:c.C589G:p.Q197E,ZNF853:NM_017560:exon3:c.C634G:p.Q212E, chr7 6661256 6661256 C G het . 50 +line16907 synonymous SNV ZNF853:NM_001353546:exon3:c.G1419C:p.G473G,ZNF853:NM_017560:exon3:c.G1464C:p.G488G, chr7 6662086 6662086 G C het . 3 +line16914 nonsynonymous SNV ZNF12:NM_006956:exon6:c.T593C:p.M198T,ZNF12:NM_016265:exon5:c.T707C:p.M236T, chr7 6731866 6731866 A G het . 48 +line16915 nonsynonymous SNV ZNF12:NM_006956:exon5:c.G280A:p.E94K,ZNF12:NM_016265:exon5:c.G280A:p.E94K, chr7 6732293 6732293 C T het . 19 +line16978 nonsynonymous SNV NXPH1:NM_152745:exon3:c.C267A:p.D89E, chr7 8790850 8790850 C A het . 28 +line17005 nonsynonymous SNV SCIN:NM_001112706:exon1:c.A182G:p.H61R, chr7 12610594 12610594 A G het . 2 +line17089 nonsynonymous SNV AHR:NM_001621:exon7:c.C890A:p.P297H, chr7 17373720 17373720 C A het . 37 +line17127 synonymous SNV ITGB8:NM_002214:exon6:c.T942C:p.Y314Y, chr7 20421490 20421490 T C het . 6 +line17128 nonsynonymous SNV ABCB5:NM_001163941:exon6:c.C377T:p.S126F, chr7 20682869 20682869 C T het . 18 +line17129 nonframeshift deletion SP8:NM_198956:exon3:c.1336_1338del:p.446_446del,SP8:NM_182700:exon2:c.1390_1392del:p.464_464del, chr7 20824044 20824046 GCC - het . 8 +line17131 nonsynonymous SNV SP4:NM_001326542:exon3:c.C467A:p.T156K,SP4:NM_003112:exon3:c.C518A:p.T173K, chr7 21469301 21469301 C A het . 7 +line17146 nonsynonymous SNV KLHL7:NM_001172428:exon2:c.T146C:p.M49T,KLHL7:NM_018846:exon2:c.T2C:p.M1T,KLHL7:NM_001031710:exon2:c.T146C:p.M49T, chr7 23163421 23163421 T C het . 29 +line17171 nonsynonymous SNV HOXA10:NM_018951:exon1:c.A931G:p.K311E, chr7 27212995 27212995 T C het . 19 +line17172 synonymous SNV HOXA11:NM_005523:exon2:c.C741A:p.P247P, chr7 27222616 27222616 G T het . 12 +line17195 stopgain PDE1C:NM_001191058:exon15:c.G1714T:p.E572X,PDE1C:NM_001322055:exon15:c.G1534T:p.E512X,PDE1C:NM_001322057:exon15:c.G1534T:p.E512X,PDE1C:NM_001191057:exon14:c.G1534T:p.E512X,PDE1C:NM_001191056:exon14:c.G1534T:p.E512X,PDE1C:NM_001191059:exon15:c.G1534T:p.E512X,PDE1C:NM_001322059:exon15:c.G1939T:p.E647X,PDE1C:NM_001322056:exon15:c.G1534T:p.E512X,PDE1C:NM_005020:exon15:c.G1534T:p.E512X,PDE1C:NM_001322058:exon15:c.G1714T:p.E572X, chr7 31862735 31862735 C A het . 10 +line17207 synonymous SNV TBX20:NM_001077653:exon1:c.T39C:p.S13S,TBX20:NM_001166220:exon1:c.T39C:p.S13S, chr7 35293193 35293193 A G het . 9 +line17211 nonframeshift insertion ANLN:NM_018685:exon5:c.880_881insCTT:p.T294delinsTS,ANLN:NM_001284301:exon5:c.880_881insCTT:p.T294delinsTS,ANLN:NM_001284302:exon5:c.880_881insCTT:p.T294delinsTS, chr7 36447349 36447349 - CTT het . 18 +line17226 nonframeshift substitution NME8:NM_016616:exon16:c.1478_1479CT, chr7 37934146 37934147 TA CT het . 31 +line17241 nonsynonymous SNV SUGCT:NM_001193313:exon2:c.A124G:p.M42V,SUGCT:NM_024728:exon2:c.A124G:p.M42V,SUGCT:NM_001193311:exon2:c.A124G:p.M42V,SUGCT:NM_001193312:exon2:c.A124G:p.M42V, chr7 40220548 40220548 A G het . 11 +line17261 nonsynonymous SNV SPDYE1:NM_175064:exon5:c.T832C:p.C278R, chr7 44047066 44047066 T C het . 7 +line17264 nonsynonymous SNV AEBP1:NM_001129:exon21:c.A3397G:p.K1133E, chr7 44153780 44153780 A G het . 20 +line17275 synonymous SNV PURB:NM_033224:exon1:c.T321G:p.A107A, chr7 44924627 44924627 A C het . 7 +line17277 nonsynonymous SNV NACAD:NM_001146334:exon2:c.A1771G:p.K591E, chr7 45124008 45124008 T C het . 5 +line17296 synonymous SNV C7orf57:NM_001267866:exon6:c.T381C:p.D127D,C7orf57:NM_001267865:exon6:c.T381C:p.D127D,C7orf57:NM_001100159:exon7:c.T795C:p.D265D, chr7 48092486 48092486 T C het . 5 +line17297 nonsynonymous SNV UPP1:NM_003364:exon9:c.G832A:p.G278R,UPP1:NM_001287429:exon6:c.G421A:p.G141R,UPP1:NM_001362774:exon10:c.G832A:p.G278R,UPP1:NM_001287426:exon10:c.G832A:p.G278R,UPP1:NM_001287428:exon7:c.G421A:p.G141R,UPP1:NM_001287430:exon6:c.G421A:p.G141R, chr7 48147853 48147853 G A het . 3 +line17299 synonymous SNV ABCA13:NM_152701:exon17:c.C2760A:p.V920V, chr7 48312023 48312023 C A het . 27 +line17300 nonsynonymous SNV ABCA13:NM_152701:exon18:c.G7918A:p.E2640K, chr7 48318709 48318709 G A het . 27 +line17304 nonsynonymous SNV ABCA13:NM_152701:exon49:c.A13336G:p.K4446E, chr7 48545976 48545976 A G het . 3 +line17305 nonsynonymous SNV ABCA13:NM_152701:exon57:c.A14521G:p.I4841V, chr7 48626765 48626765 A G het . 9 +line17341 synonymous SNV EGFR:NM_001346897:exon19:c.G2226A:p.Q742Q,EGFR:NM_001346941:exon14:c.G1560A:p.Q520Q,EGFR:NM_001346899:exon19:c.G2226A:p.Q742Q,EGFR:NM_001346898:exon20:c.G2361A:p.Q787Q,EGFR:NM_005228:exon20:c.G2361A:p.Q787Q,EGFR:NM_001346900:exon20:c.G2202A:p.Q734Q, chr7 55249063 55249063 G A het . 5 +line17479 nonsynonymous SNV ZNF679:NM_153363:exon5:c.T332G:p.I111R, chr7 63726343 63726343 T G het . 41 +line17500 nonsynonymous SNV ZNF138:NM_001271639:exon4:c.G356A:p.G119E,ZNF138:NM_006524:exon3:c.G278A:p.G93E,ZNF138:NM_001271638:exon4:c.G260A:p.G87E, chr7 64291976 64291976 G A het . 29 +line17501 nonsynonymous SNV ZNF138:NM_001271639:exon4:c.T371A:p.F124Y,ZNF138:NM_006524:exon3:c.T293A:p.F98Y,ZNF138:NM_001271638:exon4:c.T275A:p.F92Y, chr7 64291991 64291991 T A het . 36 +line17517 nonsynonymous SNV ERV3-1:NM_001007253:exon2:c.G1609T:p.A537S, chr7 64451796 64451796 C A het . 29 +line17633 nonsynonymous SNV KCTD7:NM_001167961:exon2:c.G178A:p.A60T,KCTD7:NM_153033:exon2:c.G178A:p.A60T, chr7 66098295 66098295 G A het . 46 +line17646 stopgain SBDS:NM_016038:exon5:c.G703T:p.E235X, chr7 66453408 66453408 C A het . 53 +line17732 synonymous SNV AUTS2:NM_001127231:exon18:c.C3210T:p.F1070F,AUTS2:NM_015570:exon19:c.C3282T:p.F1094F, chr7 70255484 70255484 C T het . 7 +line17795 nonframeshift substitution TRIM50:NM_178125:exon2:c.23_24CA,TRIM50:NM_001281451:exon2:c.23_24CA,TRIM50:NM_001281450:exon2:c.23_24CA, chr7 72738762 72738763 CA TG het . 6 +line17804 nonsynonymous SNV BAZ1B:NM_032408:exon13:c.A3329G:p.Q1110R, chr7 72873969 72873969 T C het . 48 +line17825 nonsynonymous SNV METTL27:NM_152559:exon6:c.C512G:p.S171W, chr7 73249299 73249299 G C het . 15 +line17832 nonsynonymous SNV ELN:NM_001278916:exon24:c.C1699A:p.P567T,ELN:NM_001278915:exon27:c.C1861A:p.P621T,ELN:NM_001278918:exon23:c.C1576A:p.P526T,ELN:NM_001278939:exon28:c.C2029A:p.P677T,ELN:NM_000501:exon27:c.C1843A:p.P615T,ELN:NM_001278913:exon23:c.C1600A:p.P534T,ELN:NM_001278914:exon25:c.C1771A:p.P591T,ELN:NM_001278912:exon27:c.C1843A:p.P615T,ELN:NM_001081753:exon26:c.C1801A:p.P601T,ELN:NM_001278917:exon26:c.C1813A:p.P605T,ELN:NM_001081752:exon25:c.C1756A:p.P586T,ELN:NM_001081755:exon26:c.C1786A:p.P596T,ELN:NM_001081754:exon27:c.C1858A:p.P620T, chr7 73477539 73477539 C A het . 33 +line17833 nonframeshift deletion ELN:NM_001278916:exon25:c.1724_1726del:p.575_576del,ELN:NM_001278915:exon28:c.1886_1888del:p.629_630del,ELN:NM_001278918:exon24:c.1601_1603del:p.534_535del,ELN:NM_001278939:exon29:c.2054_2056del:p.685_686del,ELN:NM_000501:exon28:c.1868_1870del:p.623_624del,ELN:NM_001278913:exon24:c.1625_1627del:p.542_543del,ELN:NM_001278914:exon26:c.1796_1798del:p.599_600del,ELN:NM_001278912:exon28:c.1868_1870del:p.623_624del,ELN:NM_001081753:exon27:c.1826_1828del:p.609_610del,ELN:NM_001278917:exon27:c.1838_1840del:p.613_614del,ELN:NM_001081752:exon26:c.1781_1783del:p.594_595del,ELN:NM_001081755:exon27:c.1811_1813del:p.604_605del,ELN:NM_001081754:exon28:c.1883_1885del:p.628_629del, chr7 73477649 73477651 CCG - het . 51 +line17859 nonframeshift substitution CLIP2:NM_003388:exon15:c.2929_2930AC,CLIP2:NM_032421:exon14:c.2824_2825AC, chr7 73814748 73814749 CG AC het . 18 +line17860 nonsynonymous SNV CLIP2:NM_003388:exon15:c.G2930C:p.R977P,CLIP2:NM_032421:exon14:c.G2825C:p.R942P, chr7 73814749 73814749 G C het . 18 +line17871 synonymous SNV GTF2IRD1:NM_005685:exon6:c.A720C:p.P240P,GTF2IRD1:NM_016328:exon6:c.A720C:p.P240P,GTF2IRD1:NM_001199207:exon6:c.A816C:p.P272P, chr7 73933853 73933853 A C het . 11 +line17872 nonsynonymous SNV GTF2IRD1:NM_005685:exon6:c.A728C:p.D243A,GTF2IRD1:NM_016328:exon6:c.A728C:p.D243A,GTF2IRD1:NM_001199207:exon6:c.A824C:p.D275A, chr7 73933861 73933861 A C het . 12 +line17873 synonymous SNV GTF2IRD1:NM_005685:exon6:c.A738C:p.P246P,GTF2IRD1:NM_016328:exon6:c.A738C:p.P246P,GTF2IRD1:NM_001199207:exon6:c.A834C:p.P278P, chr7 73933871 73933871 A C het . 13 +line17891 synonymous SNV HIP1:NM_005338:exon3:c.C243T:p.N81N,HIP1:NM_001243198:exon3:c.C243T:p.N81N, chr7 75221774 75221774 G A het . 15 +line17895 stopgain CCL26:NM_006072:exon3:c.G132A:p.W44X, chr7 75401263 75401263 C T het . 32 +line17999 nonsynonymous SNV PCLO:NM_033026:exon7:c.G13060T:p.V4354L,PCLO:NM_014510:exon7:c.G13060T:p.V4354L, chr7 82544242 82544242 C A het . 25 +line18000 nonframeshift insertion PCLO:NM_033026:exon5:c.8780_8781insTGA:p.E2927delinsDE,PCLO:NM_014510:exon5:c.8780_8781insTGA:p.E2927delinsDE, chr7 82581488 82581488 - TCA het . 21 +line18001 nonsynonymous SNV PCLO:NM_033026:exon5:c.G8545A:p.E2849K,PCLO:NM_014510:exon5:c.G8545A:p.E2849K, chr7 82581724 82581724 C T het . 14 +line18002 nonsynonymous SNV PCLO:NM_033026:exon5:c.C5495T:p.P1832L,PCLO:NM_014510:exon5:c.C5495T:p.P1832L, chr7 82584774 82584774 G A het . 20 +line18047 nonsynonymous SNV ADAM22:NM_001324420:exon12:c.G1021A:p.G341R,ADAM22:NM_001324421:exon12:c.G1021A:p.G341R,ADAM22:NM_016351:exon12:c.G1021A:p.G341R,ADAM22:NM_004194:exon12:c.G1021A:p.G341R,ADAM22:NM_001324417:exon12:c.G1018A:p.G340R,ADAM22:NM_021721:exon12:c.G1021A:p.G341R,ADAM22:NM_021722:exon12:c.G1021A:p.G341R,ADAM22:NM_001324419:exon12:c.G1018A:p.G340R,ADAM22:NM_001324418:exon12:c.G1021A:p.G341R,ADAM22:NM_021723:exon12:c.G1021A:p.G341R, chr7 87762210 87762210 G A het . 12 +line18067 synonymous SNV PEX1:NM_001282678:exon14:c.G1623T:p.L541L,PEX1:NM_001282677:exon13:c.G2076T:p.L692L,PEX1:NM_000466:exon14:c.G2247T:p.L749L, chr7 92131373 92131373 C A het . 10 +line18070 nonsynonymous SNV SAMD9L:NM_001350082:exon6:c.G1938T:p.E646D,SAMD9L:NM_001350085:exon5:c.G1938T:p.E646D,SAMD9L:NM_001303498:exon5:c.G1938T:p.E646D,SAMD9L:NM_001303497:exon6:c.G1938T:p.E646D,SAMD9L:NM_001350084:exon6:c.G1938T:p.E646D,SAMD9L:NM_001303496:exon5:c.G1938T:p.E646D,SAMD9L:NM_152703:exon5:c.G1938T:p.E646D,SAMD9L:NM_001303500:exon4:c.G1938T:p.E646D,SAMD9L:NM_001350083:exon4:c.G1938T:p.E646D, chr7 92763347 92763347 C A het . 14 +line18071 nonsynonymous SNV CALCR:NM_001164737:exon16:c.G1252T:p.V418L,CALCR:NM_001742:exon14:c.G1204T:p.V402L,CALCR:NM_001164738:exon13:c.G1204T:p.V402L, chr7 93055889 93055889 C A het . 8 +line18096 nonframeshift deletion DLX6:NM_005222:exon1:c.132_134del:p.44_45del, chr7 96635421 96635423 GCC - het . 15 +line18101 synonymous SNV BAIAP2L1:NM_018842:exon14:c.G1518A:p.S506S, chr7 97922851 97922851 C T het . 5 +line18102 synonymous SNV BAIAP2L1:NM_018842:exon14:c.C1494T:p.R498R, chr7 97922875 97922875 G A het . 7 +line18118 frameshift deletion ZNF3:NM_017715:exon6:c.292_295del:p.T98fs,ZNF3:NM_001318137:exon4:c.184_187del:p.T62fs, chr7 99662512 99662515 TAGT - het . 4 +line18119 nonsynonymous SNV MCM7:NM_005916:exon8:c.C941A:p.S314Y,MCM7:NM_182776:exon7:c.C413A:p.S138Y,MCM7:NM_001278595:exon7:c.C413A:p.S138Y, chr7 99695501 99695501 G T het . 13 +line18120 nonsynonymous SNV AP4M1:NM_001363671:exon3:c.C268A:p.L90I,AP4M1:NM_004722:exon3:c.C247A:p.L83I, chr7 99700397 99700397 C A het . 13 +line18126 unknown UNKNOWN chr7 100334929 100334929 C T het . 4 +line18127 unknown UNKNOWN chr7 100364791 100364791 G - het . 15 +line18128 unknown UNKNOWN chr7 100395003 100395003 G C het . 10 +line18134 nonsynonymous SNV MUC3A:NM_005960:exon2:c.G454A:p.A152T, chr7 100549873 100549873 G A het . 7 +line18135 synonymous SNV MUC3A:NM_005960:exon2:c.C465T:p.S155S, chr7 100549884 100549884 C T het . 9 +line18136 nonsynonymous SNV MUC3A:NM_005960:exon2:c.T475C:p.S159P, chr7 100549894 100549894 T C het . 10 +line18137 synonymous SNV MUC3A:NM_005960:exon2:c.G477C:p.S159S, chr7 100549896 100549896 G C het . 10 +line18138 synonymous SNV MUC3A:NM_005960:exon2:c.C483T:p.P161P, chr7 100549902 100549902 C T het . 9 +line18139 synonymous SNV MUC3A:NM_005960:exon2:c.G495A:p.K165K, chr7 100549914 100549914 G A het . 8 +line18140 nonsynonymous SNV MUC3A:NM_005960:exon2:c.T516G:p.S172R, chr7 100549935 100549935 T G het . 8 +line18141 nonsynonymous SNV MUC3A:NM_005960:exon2:c.T523C:p.S175P, chr7 100549942 100549942 T C het . 9 +line18142 nonsynonymous SNV MUC3A:NM_005960:exon2:c.C560T:p.T187I, chr7 100549979 100549979 C T het . 18 +line18143 nonframeshift insertion MUC3A:NM_005960:exon2:c.613_614insCCT:p.P205delinsPS, chr7 100550032 100550032 - CCT het . 11 +line18144 synonymous SNV MUC3A:NM_005960:exon2:c.C765A:p.S255S, chr7 100550184 100550184 C A het . 19 +line18145 nonsynonymous SNV MUC3A:NM_005960:exon2:c.T784A:p.S262T, chr7 100550203 100550203 T A het . 15 +line18146 synonymous SNV MUC3A:NM_005960:exon2:c.A786C:p.S262S, chr7 100550205 100550205 A C het . 15 +line18147 nonsynonymous SNV MUC3A:NM_005960:exon2:c.G826A:p.A276T, chr7 100550245 100550245 G A het . 15 +line18148 nonsynonymous SNV MUC3A:NM_005960:exon2:c.A833G:p.Q278R, chr7 100550252 100550252 A G het . 18 +line18149 synonymous SNV MUC3A:NM_005960:exon2:c.A852G:p.T284T, chr7 100550271 100550271 A G het . 19 +line18150 nonframeshift substitution MUC3A:NM_005960:exon4:c.1951_1952TC, chr7 100551370 100551371 AG TC het . 5 +line18151 synonymous SNV MUC3A:NM_005960:exon4:c.C1957A:p.R653R, chr7 100551376 100551376 C A het . 4 +line18152 synonymous SNV MUC3A:NM_005960:exon4:c.T1971A:p.P657P, chr7 100551390 100551390 T A het . 4 +line18153 nonframeshift substitution MUC3A:NM_005960:exon4:c.1973_1974TA, chr7 100551392 100551393 CG TA het . 4 +line18154 nonsynonymous SNV MUC3A:NM_005960:exon4:c.G1978T:p.V660L, chr7 100551397 100551397 G T het . 4 +line18155 nonsynonymous SNV MUC3A:NM_005960:exon4:c.G1981A:p.G661S, chr7 100551400 100551400 G A het . 3 +line18156 nonsynonymous SNV MUC3A:NM_005960:exon4:c.T2993C:p.M998T, chr7 100552412 100552412 T C het . 11 +line18157 nonframeshift substitution MUC3A:NM_005960:exon4:c.3016_3017AT, chr7 100552435 100552436 TC AT het . 12 +line18158 synonymous SNV MUC3A:NM_005960:exon4:c.C3021T:p.P1007P, chr7 100552440 100552440 C T het . 11 +line18159 nonframeshift substitution MUC3A:NM_005960:exon10:c.3987_3988CT, chr7 100608778 100608779 TC CT het . 2 +line18162 nonsynonymous SNV MUC3A:NM_005960:exon13:c.C4384T:p.H1462Y, chr7 100610069 100610069 C T het . 24 +line18169 synonymous SNV MUC12:NM_001164462:exon1:c.C42T:p.C14C, chr7 100612945 100612945 C T het . 11 +line18170 nonsynonymous SNV MUC12:NM_001164462:exon1:c.G49A:p.V17I, chr7 100612952 100612952 G A het . 8 +line18185 synonymous SNV CUX1:NM_001202544:exon14:c.A1218G:p.A406A,CUX1:NM_001913:exon15:c.A1266G:p.A422A,CUX1:NM_001202545:exon14:c.A1128G:p.A376A,CUX1:NM_181500:exon15:c.A1260G:p.A420A,CUX1:NM_001202546:exon14:c.A1149G:p.A383A, chr7 101916647 101916647 A G het . 4 +line18189 nonsynonymous SNV FBXL13:NM_001287150:exon18:c.G1808T:p.C603F,FBXL13:NM_001111038:exon18:c.G1757T:p.C586F,FBXL13:NM_145032:exon19:c.G1892T:p.C631F, chr7 102462613 102462613 C A het . 13 +line18190 nonframeshift deletion LRRC17:NM_005824:exon2:c.640_642del:p.214_214del,LRRC17:NM_001031692:exon2:c.640_642del:p.214_214del, chr7 102575000 102575002 GAA - het . 17 +line18201 nonsynonymous SNV DNAJC2:NM_014377:exon2:c.C88G:p.P30A,DNAJC2:NM_001129887:exon2:c.C88G:p.P30A, chr7 102982378 102982378 G C het . 10 +line18225 nonsynonymous SNV CDHR3:NM_152750:exon4:c.G494A:p.S165N,CDHR3:NM_001301161:exon3:c.G230A:p.S77N, chr7 105624716 105624716 G A het . 2 +line18229 nonsynonymous SNV PIK3CG:NM_001282427:exon2:c.C784A:p.P262T,PIK3CG:NM_002649:exon2:c.C784A:p.P262T,PIK3CG:NM_001282426:exon2:c.C784A:p.P262T, chr7 106508790 106508790 C A het . 17 +line18237 nonsynonymous SNV CBLL1:NM_001284291:exon6:c.G880A:p.V294I,CBLL1:NM_024814:exon6:c.G883A:p.V295I, chr7 107399030 107399030 G A het . 18 +line18243 nonsynonymous SNV NRCAM:NM_001193582:exon17:c.C1633G:p.P545A,NRCAM:NM_001193583:exon16:c.C1576G:p.P526A,NRCAM:NM_001193584:exon16:c.C1576G:p.P526A,NRCAM:NM_005010:exon16:c.C1615G:p.P539A,NRCAM:NM_001037132:exon14:c.C1633G:p.P545A, chr7 107834613 107834613 G C het . 4 +line18275 synonymous SNV GPR85:NM_001146265:exon3:c.T252C:p.G84G,GPR85:NM_018970:exon3:c.T252C:p.G84G,GPR85:NM_001146266:exon2:c.T252C:p.G84G,GPR85:NM_001146267:exon3:c.T252C:p.G84G, chr7 112724525 112724525 A G het . 20 +line18304 nonsynonymous SNV CFTR:NM_000492:exon21:c.C3407A:p.A1136D, chr7 117254706 117254706 C A het . 29 +line18337 nonsynonymous SNV CPED1:NM_001105533:exon13:c.C1652G:p.A551G,CPED1:NM_024913:exon14:c.C1652G:p.A551G, chr7 120776097 120776097 C G het . 20 +line18346 nonsynonymous SNV AASS:NM_005763:exon3:c.C305G:p.S102C, chr7 121769497 121769497 G C het . 41 +line18357 nonsynonymous SNV RNF133:NM_139175:exon1:c.G895T:p.D299Y, chr7 122338078 122338078 C A het . 21 +line18369 nonsynonymous SNV ASB15:NM_080928:exon7:c.C779T:p.S260F,ASB15:NM_001290258:exon9:c.C779T:p.S260F, chr7 123267245 123267245 C T het . 16 +line18372 nonsynonymous SNV WASL:NM_003941:exon11:c.G1509T:p.W503C, chr7 123324582 123324582 C A het . 21 +line18389 nonsynonymous SNV POT1:NM_015450:exon14:c.T1331A:p.I444N,POT1:NM_001042594:exon13:c.T938A:p.I313N, chr7 124481065 124481065 A T het . 28 +line18408 synonymous SNV GRM8:NM_000845:exon8:c.G1884A:p.G628G,GRM8:NM_001127323:exon9:c.G1884A:p.G628G, chr7 126173552 126173552 C T het . 11 +line18416 synonymous SNV PRRT4:NM_001174164:exon6:c.C2553T:p.S851S, chr7 127991057 127991057 G A het . 3 +line18427 nonsynonymous SNV FLNC:NM_001127487:exon25:c.C4376A:p.A1459D,FLNC:NM_001458:exon25:c.C4376A:p.A1459D, chr7 128487838 128487838 C A het . 4 +line18428 synonymous SNV FLNC:NM_001127487:exon25:c.T4404C:p.D1468D,FLNC:NM_001458:exon25:c.T4404C:p.D1468D, chr7 128487866 128487866 T C het . 7 +line18430 nonframeshift deletion IRF5:NM_001098627:exon6:c.502_531del:p.168_177del,IRF5:NM_001098630:exon6:c.502_531del:p.168_177del,IRF5:NM_001347928:exon6:c.550_579del:p.184_193del,IRF5:NM_032643:exon6:c.502_531del:p.168_177del,IRF5:NM_001364314:exon6:c.550_579del:p.184_193del,IRF5:NM_001098629:exon6:c.550_579del:p.184_193del, chr7 128587352 128587381 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT - het . 19 +line18447 synonymous SNV SSMEM1:NM_145268:exon3:c.T429C:p.H143H, chr7 129856004 129856004 T C het . 21 +line18453 unknown UNKNOWN chr7 130147178 130147178 G A het . 24 +line18458 nonsynonymous SNV KLF14:NM_138693:exon1:c.T141G:p.H47Q, chr7 130418720 130418720 A C het . 2 +line18489 nonsynonymous SNV CALD1:NM_033140:exon9:c.C1408A:p.P470T,CALD1:NM_033157:exon12:c.C1501A:p.P501T,CALD1:NM_004342:exon11:c.C1426A:p.P476T,CALD1:NM_033139:exon10:c.C1486A:p.P496T,CALD1:NM_033138:exon12:c.C2191A:p.P731T, chr7 134644854 134644854 C A het . 9 +line18512 nonframeshift deletion CREB3L2:NM_001253775:exon2:c.299_301del:p.100_101del,CREB3L2:NM_194071:exon2:c.299_301del:p.100_101del,CREB3L2:NM_001318246:exon2:c.110_112del:p.37_38del, chr7 137612914 137612916 TGG - het . 10 +line18539 stopgain TRIM24:NM_015905:exon12:c.C1988A:p.S663X,TRIM24:NM_003852:exon12:c.C1886A:p.S629X, chr7 138258361 138258361 C A het . 26 +line18555 synonymous SNV ATP6V0A4:NM_130841:exon15:c.C1662T:p.F554F,ATP6V0A4:NM_130840:exon15:c.C1662T:p.F554F,ATP6V0A4:NM_020632:exon16:c.C1662T:p.F554F, chr7 138418910 138418910 G A het . 58 +line18584 nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.T1963A:p.L655M,KIAA1549:NM_020910:exon2:c.T1963A:p.L655M, chr7 138602409 138602409 A T het . 63 +line18585 nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.C1955T:p.P652L,KIAA1549:NM_020910:exon2:c.C1955T:p.P652L, chr7 138602417 138602417 G A het . 62 +line18586 nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.C1456G:p.P486A,KIAA1549:NM_020910:exon2:c.C1456G:p.P486A, chr7 138602916 138602916 G C het . 44 +line18628 frameshift deletion LUC7L2:NM_001270643:exon8:c.741_742del:p.E247fs,LUC7L2:NM_016019:exon7:c.744_745del:p.E248fs,LUC7L2:NM_001244585:exon8:c.735_736del:p.E245fs,C7orf55-LUC7L2:NM_001244584:exon8:c.942_943del:p.E314fs, chr7 139094365 139094366 AG - het . 27 +line18638 synonymous SNV KLRG2:NM_198508:exon4:c.A1095C:p.P365P, chr7 139138871 139138871 T G het . 9 +line18648 nonsynonymous SNV TBXAS1:NM_001166253:exon5:c.C338T:p.A113V,TBXAS1:NM_001314028:exon5:c.C278T:p.A93V,TBXAS1:NM_001166254:exon7:c.C134T:p.A45V,TBXAS1:NM_001061:exon5:c.C338T:p.A113V,TBXAS1:NM_001130966:exon9:c.C338T:p.A113V,TBXAS1:NM_030984:exon5:c.C338T:p.A113V, chr7 139635991 139635991 C T het . 45 +line18650 nonsynonymous SNV TBXAS1:NM_001166253:exon7:c.A621C:p.E207D,TBXAS1:NM_001314028:exon6:c.A423C:p.E141D,TBXAS1:NM_001166254:exon8:c.A279C:p.E93D,TBXAS1:NM_001061:exon6:c.A483C:p.E161D,TBXAS1:NM_001130966:exon10:c.A483C:p.E161D,TBXAS1:NM_030984:exon6:c.A483C:p.E161D, chr7 139653196 139653196 A C het . 51 +line18651 nonsynonymous SNV TBXAS1:NM_001166253:exon7:c.C632A:p.A211D,TBXAS1:NM_001314028:exon6:c.C434A:p.A145D,TBXAS1:NM_001166254:exon8:c.C290A:p.A97D,TBXAS1:NM_001061:exon6:c.C494A:p.A165D,TBXAS1:NM_001130966:exon10:c.C494A:p.A165D,TBXAS1:NM_030984:exon6:c.C494A:p.A165D, chr7 139653207 139653207 C A het . 51 +line18666 nonsynonymous SNV SLC37A3:NM_001287498:exon12:c.G1182T:p.L394F,SLC37A3:NM_001363375:exon11:c.G987T:p.L329F,SLC37A3:NM_001363376:exon11:c.G966T:p.L322F,SLC37A3:NM_207113:exon13:c.G1230T:p.L410F, chr7 140043308 140043308 C A het . 24 +line18682 nonsynonymous SNV DENND2A:NM_001318053:exon14:c.G2185A:p.E729K,DENND2A:NM_015689:exon14:c.G2185A:p.E729K,DENND2A:NM_001318052:exon13:c.G2185A:p.E729K,DENND2A:NM_001362678:exon14:c.G2185A:p.E729K, chr7 140244560 140244560 C T het . 29 +line18685 synonymous SNV DENND2A:NM_001318053:exon3:c.G528T:p.G176G,DENND2A:NM_015689:exon3:c.G528T:p.G176G,DENND2A:NM_001318052:exon2:c.G528T:p.G176G,DENND2A:NM_001362678:exon3:c.G528T:p.G176G, chr7 140301670 140301670 C A het . 37 +line18689 nonsynonymous SNV ADCK2:NM_052853:exon3:c.C1155G:p.F385L, chr7 140379029 140379029 C G het . 40 +line18691 nonsynonymous SNV ADCK2:NM_052853:exon6:c.C1678A:p.L560M, chr7 140389517 140389517 C A het . 12 +line18697 nonsynonymous SNV BRAF:NM_004333:exon15:c.T1799A:p.V600E,BRAF:NM_001354609:exon15:c.T1799A:p.V600E, chr7 140453136 140453136 A T het . 66 +line18736 nonsynonymous SNV TAS2R3:NM_016943:exon1:c.C628A:p.H210N, chr7 141464586 141464586 C A het . 38 +line18737 nonsynonymous SNV TAS2R3:NM_016943:exon1:c.C895A:p.L299I, chr7 141464853 141464853 C A het . 34 +line18738 nonsynonymous SNV TAS2R4:NM_016944:exon1:c.T536C:p.V179A, chr7 141478824 141478824 T C het . 42 +line18739 nonsynonymous SNV TAS2R5:NM_018980:exon1:c.C136A:p.L46I, chr7 141490297 141490297 C A het . 50 +line18749 synonymous SNV MGAM:NM_004668:exon28:c.T3315C:p.I1105I, chr7 141755358 141755358 T C het . 33 +line18753 nonsynonymous SNV MGAM2:NM_001293626:exon32:c.C3697A:p.H1233N, chr7 141875461 141875461 C A het . 35 +line18757 nonsynonymous SNV MGAM2:NM_001293626:exon48:c.C6690A:p.S2230R, chr7 141921001 141921001 C A het . 49 +line18845 stopgain EPHB6:NM_004445:exon12:c.C2068T:p.Q690X,EPHB6:NM_001280795:exon11:c.C1192T:p.Q398X,EPHB6:NM_001280794:exon14:c.C1192T:p.Q398X, chr7 142566279 142566279 C T het . 44 +line18846 nonsynonymous SNV TRPV6:NM_018646:exon1:c.T52G:p.S18A, chr7 142583330 142583330 A C het . 4 +line18847 nonsynonymous SNV TRPV5:NM_019841:exon10:c.C1213A:p.P405T, chr7 142612550 142612550 G T het . 6 +line18852 nonsynonymous SNV CASP2:NM_032982:exon8:c.C925A:p.Q309K,CASP2:NM_001224:exon8:c.C832A:p.Q278K, chr7 142997345 142997345 C A het . 53 +line18879 nonsynonymous SNV OR2A14:NM_001001659:exon1:c.C492G:p.S164R, chr7 143826697 143826697 C G het . 26 +line18880 nonframeshift deletion OR2A14:NM_001001659:exon1:c.525_527del:p.175_176del, chr7 143826730 143826732 CTT - het . 19 +line18885 nonsynonymous SNV NOBOX:NM_001080413:exon9:c.T1549C:p.F517L, chr7 144095600 144095600 A G het . 15 +line18936 synonymous SNV CNTNAP2:NM_014141:exon23:c.G3723A:p.A1241A, chr7 148106490 148106490 G A het . 23 +line18962 nonsynonymous SNV SSPO:NM_198455:exon50:c.G7457C:p.R2486P, chr7 149499005 149499005 G C het . 23 +line18963 nonsynonymous SNV SSPO:NM_198455:exon101:c.C14278G:p.H4760D, chr7 149523195 149523195 C G het . 8 +line18964 nonsynonymous SNV ZNF862:NM_001099220:exon8:c.G3430A:p.V1144I, chr7 149561293 149561293 G A het . 24 +line18972 nonsynonymous SNV GIMAP1-GIMAP5:NM_001303630:exon3:c.C115T:p.R39C,GIMAP1-GIMAP5:NM_001199577:exon4:c.C499T:p.R167C, chr7 150434689 150434689 C T het . 20 +line18974 synonymous SNV TMEM176A:NM_018487:exon2:c.G171A:p.S57S, chr7 150498809 150498809 G A het . 9 +line18978 nonsynonymous SNV KCNH2:NM_000238:exon11:c.A2690C:p.K897T,KCNH2:NM_172057:exon7:c.A1670C:p.K557T, chr7 150645534 150645534 T G het . 17 +line18984 nonsynonymous SNV NOS3:NM_000603:exon24:c.C2987A:p.A996D, chr7 150709441 150709441 C A het . 12 +line18985 unknown UNKNOWN chr7 150715817 150715817 A G het . 14 +line18986 nonsynonymous SNV SLC4A2:NM_003040:exon7:c.G854A:p.R285Q,SLC4A2:NM_001199694:exon6:c.G812A:p.R271Q,SLC4A2:NM_001199692:exon7:c.G854A:p.R285Q,SLC4A2:NM_001199693:exon6:c.G827A:p.R276Q, chr7 150763968 150763968 G A het . 10 +line19008 nonsynonymous SNV LOC644090:NM_001354885:exon1:c.T38C:p.L13P, chr7 151504019 151504019 T C het . 19 +line19009 frameshift deletion LOC644090:NM_001354885:exon1:c.50delA:p.E17fs, chr7 151504031 151504031 A - het . 21 +line19010 synonymous SNV LOC644090:NM_001354885:exon2:c.G183A:p.T61T, chr7 151504499 151504499 G A het . 15 +line19175 synonymous SNV PAXIP1:NM_007349:exon7:c.T1542C:p.L514L, chr7 154760369 154760369 A G het . 24 +line19196 synonymous SNV RBM33:NM_053043:exon8:c.A972T:p.P324P, chr7 155503920 155503920 A T het . 5 +line19197 synonymous SNV SHH:NM_001310462:exon2:c.G27A:p.G9G, chr7 155599417 155599417 C T het . 4 +line19199 nonsynonymous SNV LOC389602:NM_001291913:exon2:c.T803C:p.V268A, chr7 155757502 155757502 T C het . 2 +line19220 synonymous SNV UBE3C:NM_014671:exon16:c.C2056T:p.L686L, chr7 157016001 157016001 C T het . 13 +line19275 nonsynonymous SNV ZNF596:NM_001287256:exon6:c.C551A:p.P184Q,ZNF596:NM_001042416:exon6:c.C551A:p.P184Q,ZNF596:NM_001287254:exon6:c.C551A:p.P184Q,ZNF596:NM_001042415:exon6:c.C551A:p.P184Q,ZNF596:NM_001287399:exon6:c.C152A:p.P51Q,ZNF596:NM_001287255:exon6:c.C551A:p.P184Q,ZNF596:NM_173539:exon6:c.C551A:p.P184Q, chr8 195398 195398 C A het . 15 +line19286 synonymous SNV ARHGEF10:NM_001308153:exon19:c.T2127C:p.Y709Y,ARHGEF10:NM_001308152:exon17:c.T1941C:p.Y647Y,ARHGEF10:NM_014629:exon18:c.T2055C:p.Y685Y, chr8 1857548 1857548 T C het . 17 +line19287 nonsynonymous SNV ARHGEF10:NM_001308153:exon19:c.G2170A:p.V724I,ARHGEF10:NM_001308152:exon17:c.G1984A:p.V662I,ARHGEF10:NM_014629:exon18:c.G2098A:p.V700I, chr8 1857591 1857591 G A het . 16 +line19383 synonymous SNV MCPH1:NM_001363979:exon13:c.C2226T:p.S742S,MCPH1:NM_001363980:exon10:c.C1947T:p.S649S,MCPH1:NM_001322042:exon13:c.C2226T:p.S742S,MCPH1:NM_024596:exon13:c.C2226T:p.S742S, chr8 6478986 6478986 C T het . 20 +line19401 nonsynonymous SNV ZNF705G:NM_001164457:exon5:c.T707C:p.V236A, chr8 7215694 7215694 A G het . 25 +line19409 synonymous SNV PRAG1:NM_001080826:exon1:c.G327A:p.S109S, chr8 8238931 8238931 C T het . 3 +line19432 nonsynonymous SNV RP1L1:NM_178857:exon4:c.C6545A:p.A2182D, chr8 10465063 10465063 G T het . 7 +line19433 nonsynonymous SNV RP1L1:NM_178857:exon4:c.A5666T:p.D1889V, chr8 10465942 10465942 T A het . 15 +line19434 nonsynonymous SNV RP1L1:NM_178857:exon4:c.C4484G:p.P1495R, chr8 10467124 10467124 G C het . 5 +line19435 synonymous SNV RP1L1:NM_178857:exon4:c.A4032G:p.T1344T, chr8 10467576 10467576 T C het . 44 +line19436 nonframeshift substitution RP1L1:NM_178857:exon4:c.4019_4020GG, chr8 10467588 10467589 TT CC het . 39 +line19437 nonsynonymous SNV RP1L1:NM_178857:exon4:c.C3956G:p.A1319G, chr8 10467652 10467652 G C het . 34 +line19441 nonsynonymous SNV PINX1:NM_017884:exon7:c.A760T:p.S254C, chr8 10623138 10623138 T A het . 15 +line19467 nonsynonymous SNV CTSB:NM_147780:exon4:c.C76G:p.L26V,CTSB:NM_147781:exon3:c.C76G:p.L26V,CTSB:NM_147783:exon3:c.C76G:p.L26V,CTSB:NM_001908:exon2:c.C76G:p.L26V,CTSB:NM_147782:exon3:c.C76G:p.L26V, chr8 11710888 11710888 G C het . 18 +line19470 nonsynonymous SNV USP17L7:NM_001256869:exon1:c.G637A:p.V213I, chr8 11990882 11990882 C T het . 1 +line19499 nonsynonymous SNV TRMT9B:NM_001099677:exon2:c.A71G:p.H24R,TRMT9B:NM_020844:exon5:c.A449G:p.H150R, chr8 12878637 12878637 A G het . 16 +line19500 synonymous SNV DLC1:NM_001348081:exon9:c.G1821T:p.A607A,DLC1:NM_182643:exon9:c.G1821T:p.A607A,DLC1:NM_006094:exon5:c.G510T:p.A170A,DLC1:NM_001164271:exon5:c.G288T:p.A96A,DLC1:NM_001348082:exon8:c.G288T:p.A96A,DLC1:NM_001348083:exon5:c.G288T:p.A96A,DLC1:NM_001348084:exon4:c.G288T:p.A96A,DLC1:NM_001316668:exon5:c.G612T:p.A204A, chr8 12958025 12958025 C A het . 5 +line19510 nonsynonymous SNV DLC1:NM_001348081:exon2:c.C779T:p.T260I,DLC1:NM_182643:exon2:c.C779T:p.T260I,DLC1:NM_024767:exon2:c.C779T:p.T260I, chr8 13356802 13356802 G A het . 18 +line19511 nonframeshift substitution DLC1:NM_001348081:exon2:c.762_763CG,DLC1:NM_182643:exon2:c.762_763CG,DLC1:NM_024767:exon2:c.762_763CG, chr8 13356818 13356819 TT CG het . 19 +line19583 synonymous SNV FGL1:NM_147203:exon4:c.T399C:p.F133F,FGL1:NM_201553:exon5:c.T399C:p.F133F,FGL1:NM_004467:exon4:c.T399C:p.F133F,FGL1:NM_201552:exon5:c.T399C:p.F133F, chr8 17731876 17731876 A G het . 10 +line19585 nonsynonymous SNV PCM1:NM_001352658:exon12:c.A1789G:p.M597V,PCM1:NM_001352644:exon12:c.A1789G:p.M597V,PCM1:NM_001352642:exon14:c.A1789G:p.M597V,PCM1:NM_001352654:exon12:c.A1789G:p.M597V,PCM1:NM_001352646:exon12:c.A1789G:p.M597V,PCM1:NM_001352635:exon14:c.A1789G:p.M597V,PCM1:NM_001352652:exon11:c.A1789G:p.M597V,PCM1:NM_001352649:exon12:c.A1789G:p.M597V,PCM1:NM_001352647:exon11:c.A1789G:p.M597V,PCM1:NM_006197:exon12:c.A1789G:p.M597V,PCM1:NM_001352651:exon12:c.A1906G:p.M636V,PCM1:NM_001352650:exon15:c.A1906G:p.M636V,PCM1:NM_001352657:exon14:c.A1789G:p.M597V,PCM1:NM_001352655:exon13:c.A1789G:p.M597V,PCM1:NM_001352645:exon14:c.A1789G:p.M597V,PCM1:NM_001352633:exon15:c.A1906G:p.M636V,PCM1:NM_001352641:exon12:c.A1789G:p.M597V,PCM1:NM_001352637:exon13:c.A1906G:p.M636V,PCM1:NM_001352640:exon12:c.A1789G:p.M597V,PCM1:NM_001315507:exon12:c.A1789G:p.M597V,PCM1:NM_001352634:exon12:c.A1789G:p.M597V,PCM1:NM_001352643:exon13:c.A1906G:p.M636V,PCM1:NM_001352656:exon14:c.A1789G:p.M597V,PCM1:NM_001352653:exon14:c.A1789G:p.M597V,PCM1:NM_001352639:exon12:c.A1789G:p.M597V,PCM1:NM_001352648:exon14:c.A1789G:p.M597V,PCM1:NM_001352636:exon13:c.A1906G:p.M636V,PCM1:NM_001352632:exon13:c.A1906G:p.M636V,PCM1:NM_001352638:exon14:c.A1906G:p.M636V,PCM1:NM_001315508:exon12:c.A1789G:p.M597V, chr8 17814915 17814915 A G het . 15 +line19602 nonsynonymous SNV ASAH1:NM_001127505:exon1:c.G23T:p.G8V,ASAH1:NM_004315:exon1:c.G23T:p.G8V, chr8 17942288 17942288 C A het . 42 +line19617 nonframeshift substitution PSD3:NM_001362819:exon2:c.457_458CT,PSD3:NM_015310:exon3:c.556_557CT, chr8 18729817 18729818 GT AG het . 26 +line19669 nonsynonymous SNV SORBS3:NM_005775:exon11:c.C839A:p.A280D, chr8 22422803 22422803 C A het . 16 +line19677 synonymous SNV CCAR2:NM_021174:exon11:c.C1053A:p.G351G,CCAR2:NM_001363068:exon11:c.C1053A:p.G351G,CCAR2:NM_001363069:exon11:c.C1053A:p.G351G, chr8 22472362 22472362 C A het . 25 +line19721 nonsynonymous SNV CDCA2:NM_001317906:exon14:c.A2607T:p.R869S,CDCA2:NM_152562:exon15:c.A2652T:p.R884S, chr8 25364834 25364834 A T het . 14 +line19723 synonymous SNV EBF2:NM_022659:exon15:c.A1539G:p.S513S, chr8 25708267 25708267 T C het . 11 +line19730 nonsynonymous SNV DPYSL2:NM_001197293:exon1:c.T212G:p.V71G, chr8 26372053 26372053 T G het . 13 +line19735 nonsynonymous SNV ADRA1A:NM_001322502:exon2:c.G1052T:p.S351I, chr8 26614128 26614128 C A het . 40 +line19737 nonsynonymous SNV ADRA1A:NM_000680:exon3:c.T1039C:p.C347R,ADRA1A:NM_033304:exon2:c.T1039C:p.C347R,ADRA1A:NM_033302:exon2:c.T1039C:p.C347R,ADRA1A:NM_033303:exon2:c.T1039C:p.C347R, chr8 26628028 26628028 A G het . 24 +line19763 synonymous SNV EXTL3:NM_001440:exon3:c.C256A:p.R86R, chr8 28573832 28573832 C A het . 14 +line19782 synonymous SNV RBPMS:NM_001008711:exon6:c.C510T:p.P170P,RBPMS:NM_006867:exon6:c.C510T:p.P170P,RBPMS:NM_001008710:exon6:c.C510T:p.P170P,RBPMS:NM_001008712:exon6:c.C510T:p.P170P, chr8 30402123 30402123 C T het . 34 +line19784 synonymous SNV GSR:NM_001195104:exon11:c.T1320C:p.R440R,GSR:NM_001195103:exon12:c.T1407C:p.R469R,GSR:NM_001195102:exon12:c.T1479C:p.R493R,GSR:NM_000637:exon13:c.T1566C:p.R522R, chr8 30537040 30537040 A G het . 36 +line19786 nonsynonymous SNV GSR:NM_001195103:exon8:c.T809C:p.F270S,GSR:NM_000637:exon8:c.T809C:p.F270S, chr8 30550559 30550559 A G het . 16 +line19796 nonframeshift deletion WRN:NM_000553:exon12:c.1517_1519del:p.506_507del, chr8 30945377 30945379 AAG - het . 37 +line19812 stopgain FUT10:NM_032664:exon4:c.901delG:p.V301X, chr8 33246792 33246792 C - het . 11 +line19850 synonymous SNV ADGRA2:NM_032777:exon18:c.C2715T:p.V905V, chr8 37698335 37698335 C T het . 17 +line19851 stopgain RAB11FIP1:NM_025151:exon3:c.G1111T:p.E371X,RAB11FIP1:NM_001002814:exon3:c.G1111T:p.E371X, chr8 37732544 37732544 C A het . 27 +line19852 stopgain RAB11FIP1:NM_025151:exon2:c.G787T:p.E263X,RAB11FIP1:NM_001002814:exon2:c.G787T:p.E263X, chr8 37734654 37734654 C A het . 18 +line19859 stoploss C8orf86:NM_001303531:exon2:c.G422C:p.X141S, chr8 38369982 38369982 C G het . 9 +line19871 synonymous SNV ADAM9:NM_003816:exon22:c.T2415C:p.P805P, chr8 38961174 38961174 T C het . 30 +line19898 synonymous SNV NKX6-3:NM_001364841:exon3:c.G555T:p.V185V,NKX6-3:NM_152568:exon2:c.G165T:p.V55V, chr8 41504211 41504211 C A het . 6 +line19912 nonsynonymous SNV PLAT:NM_033011:exon10:c.C1001T:p.P334L,PLAT:NM_001319189:exon9:c.C872T:p.P291L,PLAT:NM_000930:exon11:c.C1139T:p.P380L, chr8 42037843 42037843 G A het . 19 +line19921 synonymous SNV HOOK3:NM_032410:exon21:c.A1972C:p.R658R, chr8 42868499 42868499 A C het . 13 +line19930 synonymous SNV POTEA:NM_001005365:exon4:c.C594T:p.G198G,POTEA:NM_001002920:exon4:c.C594T:p.G198G, chr8 43155666 43155666 C T het . 15 +line19943 nonsynonymous SNV SPIDR:NM_001080394:exon10:c.C1531A:p.P511T,SPIDR:NM_001352957:exon8:c.C598A:p.P200T,SPIDR:NM_001352936:exon9:c.C1321A:p.P441T,SPIDR:NM_001352947:exon10:c.C781A:p.P261T,SPIDR:NM_001352943:exon9:c.C1039A:p.P347T,SPIDR:NM_001352952:exon8:c.C598A:p.P200T,SPIDR:NM_001352948:exon9:c.C781A:p.P261T,SPIDR:NM_001352953:exon7:c.C598A:p.P200T,SPIDR:NM_001352955:exon8:c.C598A:p.P200T,SPIDR:NM_001352938:exon9:c.C1039A:p.P347T,SPIDR:NM_001352951:exon9:c.C781A:p.P261T,SPIDR:NM_001352942:exon8:c.C874A:p.P292T,SPIDR:NM_001352932:exon10:c.C1411A:p.P471T,SPIDR:NM_001352950:exon9:c.C1039A:p.P347T,SPIDR:NM_001352933:exon10:c.C1351A:p.P451T,SPIDR:NM_001352934:exon10:c.C1531A:p.P511T,SPIDR:NM_001352941:exon7:c.C1015A:p.P339T,SPIDR:NM_001282916:exon9:c.C1321A:p.P441T,SPIDR:NM_001352935:exon9:c.C1321A:p.P441T,SPIDR:NM_001352956:exon7:c.C598A:p.P200T,SPIDR:NM_001352949:exon11:c.C874A:p.P292T,SPIDR:NM_001352937:exon10:c.C1351A:p.P451T,SPIDR:NM_001352945:exon6:c.C805A:p.P269T,SPIDR:NM_001352946:exon9:c.C781A:p.P261T,SPIDR:NM_001352939:exon8:c.C1039A:p.P347T,SPIDR:NM_001352944:exon7:c.C1015A:p.P339T,SPIDR:NM_001352940:exon9:c.C1039A:p.P347T,SPIDR:NM_001282919:exon10:c.C1351A:p.P451T,SPIDR:NM_001352931:exon10:c.C1531A:p.P511T,SPIDR:NM_001352958:exon12:c.C283A:p.P95T,SPIDR:NM_001352961:exon10:c.C1531A:p.P511T, chr8 48511745 48511745 C A het . 9 +line19945 unknown UNKNOWN chr8 48766659 48766659 C A het . 16 +line19963 synonymous SNV SNTG1:NM_001287814:exon4:c.G171C:p.T57T,SNTG1:NM_001321776:exon5:c.G171C:p.T57T,SNTG1:NM_001287813:exon6:c.G171C:p.T57T,SNTG1:NM_001321773:exon4:c.G171C:p.T57T,SNTG1:NM_001321778:exon5:c.G171C:p.T57T,SNTG1:NM_001321775:exon6:c.G171C:p.T57T,SNTG1:NM_018967:exon5:c.G171C:p.T57T,SNTG1:NM_001321777:exon4:c.G171C:p.T57T, chr8 51351111 51351111 G C het . 15 +line19994 synonymous SNV MRPL15:NM_014175:exon5:c.C729A:p.I243I, chr8 55060117 55060117 C A het . 24 +line20042 synonymous SNV CHD7:NM_017780:exon12:c.C3165A:p.T1055T, chr8 61735269 61735269 C A het . 9 +line20054 synonymous SNV ASPH:NM_001164753:exon5:c.G366T:p.V122V,ASPH:NM_004318:exon4:c.G408T:p.V136V,ASPH:NM_032468:exon5:c.G366T:p.V122V,ASPH:NM_001164751:exon5:c.G366T:p.V122V,ASPH:NM_001164752:exon5:c.G366T:p.V122V,ASPH:NM_001164754:exon4:c.G408T:p.V136V,ASPH:NM_001164750:exon4:c.G321T:p.V107V,ASPH:NM_001164755:exon4:c.G408T:p.V136V,ASPH:NM_032466:exon4:c.G408T:p.V136V, chr8 62566134 62566134 C A het . 23 +line20076 nonsynonymous SNV MTFR1:NM_001145839:exon7:c.C979A:p.P327T, chr8 66620292 66620292 C A het . 31 +line20083 nonsynonymous SNV MYBL1:NM_001144755:exon14:c.G1867T:p.V623F,MYBL1:NM_001080416:exon14:c.G1867T:p.V623F,MYBL1:NM_001294282:exon14:c.G1864T:p.V622F, chr8 67479002 67479002 C A het . 26 +line20084 nonsynonymous SNV VCPIP1:NM_025054:exon1:c.T930G:p.S310R, chr8 67578264 67578264 A C het . 9 +line20141 nonsynonymous SNV RDH10:NM_172037:exon3:c.G583A:p.V195I, chr8 74231388 74231388 G A het . 12 +line20162 nonsynonymous SNV ZFHX4:NM_024721:exon10:c.C7888T:p.P2630S, chr8 77767045 77767045 C T het . 7 +line20163 nonsynonymous SNV ZFHX4:NM_024721:exon11:c.C10176A:p.D3392E, chr8 77776126 77776126 C A het . 30 +line20167 nonsynonymous SNV PEX2:NM_001172086:exon5:c.T550C:p.C184R,PEX2:NM_001079867:exon3:c.T550C:p.C184R,PEX2:NM_000318:exon4:c.T550C:p.C184R,PEX2:NM_001172087:exon3:c.T550C:p.C184R, chr8 77895865 77895865 A G het . 35 +line20189 nonsynonymous SNV ZNF704:NM_001033723:exon5:c.G658T:p.G220W, chr8 81582739 81582739 C A het . 13 +line20194 nonsynonymous SNV SNX16:NM_152837:exon2:c.G183T:p.M61I,SNX16:NM_022133:exon3:c.G183T:p.M61I,SNX16:NM_152836:exon2:c.G183T:p.M61I, chr8 82752039 82752039 C A het . 18 +line20215 nonframeshift insertion C8orf59:NM_001099673:exon4:c.264_265insAATGTT:p.D89delinsNVD,C8orf59:NM_001099671:exon5:c.264_265insAATGTT:p.D89delinsNVD,C8orf59:NM_001099670:exon5:c.264_265insAATGTT:p.D89delinsNVD,C8orf59:NM_001293320:exon3:c.147_148insAATGTT:p.D50delinsNVD,C8orf59:NM_001099672:exon5:c.264_265insAATGTT:p.D89delinsNVD, chr8 86126827 86126827 - AACATT het . 7 +line20223 frameshift deletion SLC7A13:NM_138817:exon4:c.1413_1420del:p.*471fs, chr8 87226635 87226642 CCGACATC - het . 19 +line20224 nonsynonymous SNV WWP1:NM_007013:exon17:c.G1825T:p.G609C, chr8 87450889 87450889 G T het . 27 +line20231 nonsynonymous SNV CNGB3:NM_019098:exon8:c.G984T:p.M328I, chr8 87660035 87660035 C A het . 34 +line20240 synonymous SNV MMP16:NM_005941:exon4:c.G546T:p.V182V, chr8 89180061 89180061 C A het . 25 +line20271 synonymous SNV SLC26A7:NM_052832:exon17:c.A1830G:p.T610T,SLC26A7:NM_001282356:exon18:c.A1830G:p.T610T,SLC26A7:NM_134266:exon17:c.A1830G:p.T610T,SLC26A7:NM_001282357:exon17:c.A927G:p.T309T, chr8 92406078 92406078 A G het . 22 +line20280 nonsynonymous SNV TMEM67:NM_153704:exon2:c.G224T:p.G75V, chr8 94768006 94768006 G T het . 14 +line20285 stopgain CDH17:NM_001144663:exon10:c.G1108T:p.E370X,CDH17:NM_004063:exon10:c.G1108T:p.E370X, chr8 95178163 95178163 C A het . 20 +line20291 synonymous SNV VIRMA:NM_015496:exon5:c.A432C:p.P144P,VIRMA:NM_183009:exon5:c.A432C:p.P144P, chr8 95547119 95547119 T G het . 1 +line20311 nonsynonymous SNV NDUFAF6:NM_001354514:exon11:c.C555A:p.H185Q,NDUFAF6:NM_001354530:exon10:c.C375A:p.H125Q,NDUFAF6:NM_001330582:exon8:c.C555A:p.H185Q,NDUFAF6:NM_001354532:exon10:c.C375A:p.H125Q,NDUFAF6:NM_001354527:exon10:c.C375A:p.H125Q,NDUFAF6:NM_001354519:exon9:c.C498A:p.H166Q,NDUFAF6:NM_001354528:exon10:c.C375A:p.H125Q,NDUFAF6:NM_001354515:exon9:c.C555A:p.H185Q,NDUFAF6:NM_001354517:exon7:c.C498A:p.H166Q,NDUFAF6:NM_001354516:exon10:c.C675A:p.H225Q,NDUFAF6:NM_001354524:exon11:c.C375A:p.H125Q,NDUFAF6:NM_001354529:exon9:c.C375A:p.H125Q,NDUFAF6:NM_152416:exon8:c.C831A:p.H277Q,NDUFAF6:NM_001354522:exon11:c.C375A:p.H125Q,NDUFAF6:NM_001354518:exon9:c.C498A:p.H166Q,NDUFAF6:NM_001354525:exon11:c.C375A:p.H125Q,NDUFAF6:NM_001354533:exon9:c.C375A:p.H125Q,NDUFAF6:NM_001354531:exon9:c.C375A:p.H125Q, chr8 96064416 96064416 C A het . 39 +line20322 nonsynonymous SNV CPQ:NM_016134:exon4:c.G735A:p.M245I, chr8 97892119 97892119 G A het . 19 +line20329 nonsynonymous SNV LAPTM4B:NM_018407:exon3:c.T263A:p.M88K, chr8 98827607 98827607 T A het . 25 +line20330 nonsynonymous SNV LAPTM4B:NM_018407:exon3:c.C269A:p.T90N, chr8 98827613 98827613 C A het . 24 +line20343 stopgain STK3:NM_006281:exon11:c.T1355A:p.L452X,STK3:NM_001256312:exon13:c.T1439A:p.L480X,STK3:NM_001256313:exon9:c.T1022A:p.L341X, chr8 99468191 99468191 A T het . 18 +line20350 stopgain VPS13B:NM_181661:exon8:c.T1239G:p.Y413X, chr8 100133706 100133706 T G het . 9 +line20356 stopgain VPS13B:NM_017890:exon29:c.T4644A:p.Y1548X,VPS13B:NM_152564:exon29:c.T4569A:p.Y1523X, chr8 100523676 100523676 T A het . 35 +line20357 nonsynonymous SNV VPS13B:NM_017890:exon38:c.C6772A:p.L2258I,VPS13B:NM_152564:exon38:c.C6697A:p.L2233I, chr8 100732612 100732612 C A het . 31 +line20358 nonsynonymous SNV VPS13B:NM_017890:exon39:c.C7066A:p.P2356T,VPS13B:NM_152564:exon39:c.C6991A:p.P2331T, chr8 100733216 100733216 C A het . 19 +line20368 nonsynonymous SNV SNX31:NM_152628:exon3:c.G217C:p.D73H, chr8 101648164 101648164 C G het . 15 +line20369 nonsynonymous SNV PABPC1:NM_002568:exon12:c.T1685C:p.L562S, chr8 101717819 101717819 A G het . 23 +line20370 nonsynonymous SNV PABPC1:NM_002568:exon12:c.C1672G:p.Q558E, chr8 101717832 101717832 G C het . 24 +line20371 frameshift insertion PABPC1:NM_002568:exon6:c.761_762insT:p.K254fs, chr8 101724994 101724994 - A het . 17 +line20372 synonymous SNV PABPC1:NM_002568:exon6:c.C756T:p.N252N, chr8 101725000 101725000 G A het . 14 +line20373 nonsynonymous SNV PABPC1:NM_002568:exon6:c.G753T:p.M251I, chr8 101725003 101725003 C A het . 15 +line20375 nonsynonymous SNV PABPC1:NM_002568:exon4:c.C619T:p.L207F, chr8 101727714 101727714 G A het . 13 +line20376 nonsynonymous SNV PABPC1:NM_002568:exon4:c.G617A:p.R206H, chr8 101727716 101727716 C T het . 13 +line20377 nonsynonymous SNV PABPC1:NM_002568:exon3:c.A494G:p.D165G, chr8 101730010 101730010 T C het . 17 +line20378 frameshift insertion PABPC1:NM_002568:exon3:c.467_468insG:p.E156fs, chr8 101730036 101730036 - C het . 31 +line20379 nonsynonymous SNV PABPC1:NM_002568:exon3:c.C461G:p.A154G, chr8 101730043 101730043 G C het . 34 +line20380 nonsynonymous SNV PABPC1:NM_002568:exon3:c.C440T:p.T147M, chr8 101730064 101730064 G A het . 39 +line20381 nonsynonymous SNV PABPC1:NM_002568:exon3:c.A431G:p.H144R, chr8 101730073 101730073 T C het . 39 +line20399 synonymous SNV ODF1:NM_024410:exon2:c.C633G:p.P211P, chr8 103572992 103572992 C G het . 15 +line20400 synonymous SNV ODF1:NM_024410:exon2:c.C642G:p.P214P, chr8 103573001 103573001 C G het . 14 +line20401 nonsynonymous SNV ODF1:NM_024410:exon2:c.G647A:p.S216N, chr8 103573006 103573006 G A het . 11 +line20402 nonsynonymous SNV AZIN1:NM_001363013:exon9:c.G257T:p.S86I,AZIN1:NM_001363024:exon10:c.G758T:p.S253I,AZIN1:NM_001363014:exon10:c.G257T:p.S86I,AZIN1:NM_001301668:exon9:c.G758T:p.S253I,AZIN1:NM_001363012:exon10:c.G758T:p.S253I,AZIN1:NM_001363010:exon9:c.G758T:p.S253I,AZIN1:NM_001363083:exon10:c.G758T:p.S253I,AZIN1:NM_001363011:exon10:c.G758T:p.S253I,AZIN1:NM_148174:exon9:c.G758T:p.S253I,AZIN1:NM_015878:exon10:c.G758T:p.S253I, chr8 103845430 103845430 C A het . 16 +line20405 nonsynonymous SNV FZD6:NM_003506:exon6:c.C1637A:p.P546Q,FZD6:NM_001164615:exon6:c.C1637A:p.P546Q,FZD6:NM_001164616:exon7:c.C1541A:p.P514Q,FZD6:NM_001317796:exon5:c.C722A:p.P241Q, chr8 104341978 104341978 C A het . 17 +line20446 synonymous SNV PKHD1L1:NM_177531:exon2:c.G159A:p.G53G, chr8 110376861 110376861 G A het . 13 +line20449 synonymous SNV PKHD1L1:NM_177531:exon18:c.T1920C:p.N640N, chr8 110420384 110420384 T C het . 9 +line20452 synonymous SNV PKHD1L1:NM_177531:exon38:c.C5766T:p.I1922I, chr8 110457864 110457864 C T het . 14 +line20464 nonframeshift deletion PKHD1L1:NM_177531:exon77:c.12578_12580del:p.4193_4194del, chr8 110539106 110539108 GCA - het . 18 +line20466 synonymous SNV SYBU:NM_001099747:exon8:c.C1155T:p.D385D,SYBU:NM_001099752:exon8:c.C1158T:p.D386D,SYBU:NM_001099756:exon6:c.C1149T:p.D383D,SYBU:NM_001099749:exon6:c.C801T:p.D267D,SYBU:NM_001099750:exon9:c.C1158T:p.D386D,SYBU:NM_001099754:exon7:c.C1158T:p.D386D,SYBU:NM_001363032:exon5:c.C669T:p.D223D,SYBU:NM_017786:exon9:c.C1155T:p.D385D,SYBU:NM_001099746:exon6:c.C801T:p.D267D,SYBU:NM_001099753:exon7:c.C1155T:p.D385D,SYBU:NM_001099743:exon8:c.C1155T:p.D385D,SYBU:NM_001099755:exon6:c.C801T:p.D267D,SYBU:NM_001099745:exon8:c.C1158T:p.D386D,SYBU:NM_001099744:exon8:c.C1158T:p.D386D,SYBU:NM_001330596:exon5:c.C768T:p.D256D,SYBU:NM_001099751:exon8:c.C1155T:p.D385D,SYBU:NM_001099748:exon8:c.C1158T:p.D386D, chr8 110587969 110587969 G A het . 18 +line20468 nonsynonymous SNV SYBU:NM_001099747:exon6:c.T608C:p.L203P,SYBU:NM_001099752:exon6:c.T611C:p.L204P,SYBU:NM_001099756:exon4:c.T602C:p.L201P,SYBU:NM_001099749:exon4:c.T254C:p.L85P,SYBU:NM_001099750:exon7:c.T611C:p.L204P,SYBU:NM_001099754:exon5:c.T611C:p.L204P,SYBU:NM_001363032:exon3:c.T122C:p.L41P,SYBU:NM_017786:exon7:c.T608C:p.L203P,SYBU:NM_001099746:exon4:c.T254C:p.L85P,SYBU:NM_001099753:exon5:c.T608C:p.L203P,SYBU:NM_001099743:exon6:c.T608C:p.L203P,SYBU:NM_001099755:exon4:c.T254C:p.L85P,SYBU:NM_001099745:exon6:c.T611C:p.L204P,SYBU:NM_001099744:exon6:c.T611C:p.L204P,SYBU:NM_001330596:exon3:c.T221C:p.L74P,SYBU:NM_001099751:exon6:c.T608C:p.L203P,SYBU:NM_001099748:exon6:c.T611C:p.L204P, chr8 110592151 110592151 A G het . 27 +line20470 nonsynonymous SNV KCNV1:NM_014379:exon4:c.G1181T:p.G394V, chr8 110980639 110980639 C A het . 19 +line20481 nonsynonymous SNV CSMD3:NM_198124:exon45:c.G6745T:p.A2249S,CSMD3:NM_052900:exon43:c.G6553T:p.A2185S,CSMD3:NM_198123:exon44:c.G6865T:p.A2289S,CSMD3:NM_001363185:exon40:c.G6265T:p.A2089S, chr8 113349035 113349035 C A het . 35 +line20502 nonsynonymous SNV TRPS1:NM_014112:exon2:c.C20T:p.A7V, chr8 116635845 116635845 G A het . 31 +line20541 synonymous SNV COL14A1:NM_021110:exon7:c.T612C:p.G204G, chr8 121210069 121210069 T C het . 9 +line20542 synonymous SNV COL14A1:NM_021110:exon29:c.C3630T:p.C1210C, chr8 121292322 121292322 C T het . 15 +line20564 stopgain ZHX1:NM_001017926:exon3:c.G2284T:p.G762X,ZHX1:NM_007222:exon3:c.G2284T:p.G762X, chr8 124265903 124265903 C A het . 20 +line20568 nonframeshift substitution KLHL38:NM_001081675:exon1:c.293_294GC, chr8 124664873 124664874 AT GC het . 8 +line20572 synonymous SNV FER1L6:NM_001039112:exon6:c.C411T:p.P137P, chr8 124982301 124982301 C T het . 25 +line20574 nonsynonymous SNV FER1L6:NM_001039112:exon38:c.C4908A:p.D1636E, chr8 125113362 125113362 C A het . 14 +line20588 stoploss ZNF572:NM_152412:exon3:c.G1589C:p.X530S, chr8 125990099 125990099 G C het . 8 +line20631 nonsynonymous SNV ASAP1:NM_018482:exon28:c.A3188G:p.N1063S,ASAP1:NM_001247996:exon29:c.A3167G:p.N1056S,ASAP1:NM_001362925:exon28:c.A3026G:p.N1009S,ASAP1:NM_001362926:exon27:c.A3017G:p.N1006S,ASAP1:NM_001362924:exon29:c.A3197G:p.N1066S, chr8 131072829 131072829 T C het . 2 +line20642 nonsynonymous SNV ADCY8:NM_001115:exon1:c.G73A:p.G25S, chr8 132052507 132052507 C T het . 9 +line20650 nonsynonymous SNV OC90:NM_001080399:exon14:c.C1304A:p.A435D, chr8 133036858 133036858 G T het . 13 +line20661 synonymous SNV TG:NM_003235:exon11:c.C2935A:p.R979R, chr8 133906108 133906108 C A het . 27 +line20665 nonsynonymous SNV TG:NM_003235:exon42:c.C7286A:p.A2429D, chr8 134107334 134107334 C A het . 36 +line20666 nonsynonymous SNV TG:NM_003235:exon44:c.G7589A:p.R2530Q, chr8 134125682 134125682 G A het . 24 +line20708 nonsynonymous SNV COL22A1:NM_152888:exon65:c.C4765A:p.P1589T, chr8 139601612 139601612 G T het . 6 +line20724 synonymous SNV TRAPPC9:NM_001321646:exon7:c.C1206T:p.A402A,TRAPPC9:NM_001160372:exon8:c.C1233T:p.A411A,TRAPPC9:NM_031466:exon8:c.C1527T:p.A509A, chr8 141381181 141381181 G A het . 35 +line20725 synonymous SNV TRAPPC9:NM_001321646:exon2:c.T207C:p.G69G,TRAPPC9:NM_001160372:exon2:c.T207C:p.G69G,TRAPPC9:NM_031466:exon2:c.T501C:p.G167G, chr8 141461266 141461266 A G het . 23 +line20735 unknown UNKNOWN chr8 142477587 142477587 C T het . 6 +line20745 synonymous SNV LYNX1:NM_177457:exon2:c.C24T:p.I8I,LYNX1:NM_177477:exon2:c.C24T:p.I8I,LYNX1:NM_001356370:exon2:c.C24T:p.I8I,LYNX1:NM_177476:exon2:c.C24T:p.I8I,LYNX1-SLURP2:NM_023946:exon2:c.C24T:p.I8I, chr8 143857352 143857352 G A het . 20 +line20749 frameshift deletion CYP11B2:NM_000498:exon8:c.1250delT:p.F417fs, chr8 143994094 143994094 A - het . 25 +line20762 nonsynonymous SNV LY6H:NM_001135655:exon4:c.G301T:p.V101F,LY6H:NM_002347:exon4:c.G238T:p.V80F,LY6H:NM_001130478:exon5:c.G301T:p.V101F, chr8 144239852 144239852 C A het . 27 +line20765 synonymous SNV GPIHBP1:NM_001301772:exon1:c.C12T:p.L4L,GPIHBP1:NM_178172:exon1:c.C12T:p.L4L, chr8 144295154 144295154 C T het . 24 +line20766 synonymous SNV GPIHBP1:NM_001301772:exon1:c.C30T:p.A10A,GPIHBP1:NM_178172:exon1:c.C30T:p.A10A, chr8 144295172 144295172 C T het . 19 +line20774 nonframeshift substitution ZC3H3:NM_015117:exon11:c.2638_2639AA, chr8 144522387 144522388 GA TT het . 12 +line20780 nonsynonymous SNV MROH6:NM_001100878:exon10:c.G1621T:p.D541Y, chr8 144650745 144650745 C A het . 9 +line20785 synonymous SNV EEF1D:NM_001960:exon7:c.C636T:p.A212A,EEF1D:NM_001195203:exon7:c.C579T:p.A193A,EEF1D:NM_001130057:exon7:c.C636T:p.A212A,EEF1D:NM_001130053:exon9:c.C1734T:p.A578A,EEF1D:NM_001130055:exon8:c.C636T:p.A212A,EEF1D:NM_001330646:exon6:c.C564T:p.A188A,EEF1D:NM_032378:exon9:c.C1734T:p.A578A,EEF1D:NM_001130056:exon6:c.C564T:p.A188A,EEF1D:NM_001289950:exon7:c.C636T:p.A212A,EEF1D:NM_001317743:exon6:c.C564T:p.A188A, chr8 144662353 144662353 G A het . 4 +line20787 nonsynonymous SNV EEF1D:NM_001130053:exon3:c.C567G:p.D189E,EEF1D:NM_032378:exon3:c.C567G:p.D189E, chr8 144671685 144671685 G C het . 1 +line20788 nonsynonymous SNV ZNF707:NM_001100599:exon5:c.C287A:p.P96H,ZNF707:NM_001288807:exon6:c.C68A:p.P23H,ZNF707:NM_001288805:exon8:c.C287A:p.P96H,ZNF707:NM_173831:exon7:c.C287A:p.P96H,ZNF707:NM_001288809:exon4:c.C179A:p.P60H,ZNF707:NM_001100598:exon6:c.C287A:p.P96H,ZNF707:NM_001288806:exon6:c.C287A:p.P96H,ZNF707:NM_001288808:exon4:c.C179A:p.P60H, chr8 144775871 144775871 C A het . 3 +line20791 synonymous SNV SCRIB:NM_015356:exon17:c.T2190C:p.T730T,SCRIB:NM_182706:exon17:c.T2190C:p.T730T, chr8 144889172 144889172 A G het . 9 +line20792 nonsynonymous SNV SCRIB:NM_015356:exon15:c.T2021A:p.V674E,SCRIB:NM_182706:exon15:c.T2021A:p.V674E, chr8 144890873 144890873 A T het . 3 +line20794 nonsynonymous SNV EPPK1:NM_031308:exon2:c.G6716A:p.R2239H, chr8 144940706 144940706 C T het . 30 +line20795 synonymous SNV EPPK1:NM_031308:exon2:c.G4179A:p.L1393L, chr8 144943243 144943243 C T het . 28 +line20796 nonsynonymous SNV EPPK1:NM_031308:exon2:c.G938T:p.G313V, chr8 144946484 144946484 C A het . 12 +line20797 synonymous SNV PLEC:NM_201378:exon32:c.T13419C:p.A4473A,PLEC:NM_201382:exon32:c.T13461C:p.A4487A,PLEC:NM_201379:exon32:c.T13395C:p.A4465A,PLEC:NM_000445:exon33:c.T13542C:p.A4514A,PLEC:NM_201383:exon32:c.T13473C:p.A4491A,PLEC:NM_201384:exon32:c.T13461C:p.A4487A,PLEC:NM_201380:exon32:c.T13872C:p.A4624A,PLEC:NM_201381:exon32:c.T13365C:p.A4455A, chr8 144990528 144990528 A G het . 27 +line20798 synonymous SNV PLEC:NM_201378:exon31:c.G5541A:p.A1847A,PLEC:NM_201382:exon31:c.G5583A:p.A1861A,PLEC:NM_201379:exon31:c.G5517A:p.A1839A,PLEC:NM_000445:exon32:c.G5664A:p.A1888A,PLEC:NM_201383:exon31:c.G5595A:p.A1865A,PLEC:NM_201384:exon31:c.G5583A:p.A1861A,PLEC:NM_201380:exon31:c.G5994A:p.A1998A,PLEC:NM_201381:exon31:c.G5487A:p.A1829A, chr8 144998514 144998514 C T het . 28 +line20802 synonymous SNV PLEC:NM_201378:exon5:c.T336C:p.A112A,PLEC:NM_201382:exon5:c.T378C:p.A126A,PLEC:NM_201379:exon5:c.T312C:p.A104A,PLEC:NM_000445:exon6:c.T459C:p.A153A,PLEC:NM_201383:exon5:c.T390C:p.A130A,PLEC:NM_201384:exon5:c.T378C:p.A126A,PLEC:NM_201380:exon5:c.T789C:p.A263A,PLEC:NM_201381:exon5:c.T282C:p.A94A, chr8 145011204 145011204 A G het . 15 +line20803 nonsynonymous SNV EXOSC4:NM_019037:exon3:c.C590T:p.A197V, chr8 145135356 145135356 C T het . 18 +line20806 nonsynonymous SNV WDR97:NM_001316309:exon3:c.C445G:p.R149G, chr8 145163414 145163414 C G het . 11 +line20807 synonymous SNV WDR97:NM_001316309:exon3:c.T678C:p.R226R, chr8 145163647 145163647 T C het . 16 +line20812 synonymous SNV SLC52A2:NM_024531:exon4:c.G1089A:p.P363P,SLC52A2:NM_001363120:exon4:c.G1089A:p.P363P,SLC52A2:NM_001363122:exon4:c.G597A:p.P199P,SLC52A2:NM_001363121:exon4:c.G1089A:p.P363P,SLC52A2:NM_001253816:exon4:c.G1089A:p.P363P,SLC52A2:NM_001253815:exon4:c.G1089A:p.P363P,SLC52A2:NM_001363118:exon4:c.G1089A:p.P363P, chr8 145584337 145584337 G A het . 2 +line20813 synonymous SNV CPSF1:NM_013291:exon8:c.G693T:p.V231V, chr8 145625881 145625881 C A het . 10 +line20819 synonymous SNV RECQL4:NM_004260:exon8:c.G1395A:p.T465T, chr8 145740622 145740622 C T het . 8 +line20820 nonsynonymous SNV LRRC24:NM_001024678:exon5:c.A1481C:p.E494A, chr8 145747920 145747920 T G het . 8 +line20821 stopgain LRRC24:NM_001024678:exon2:c.C90A:p.Y30X, chr8 145750269 145750269 G T het . 9 +line20823 nonsynonymous SNV ZNF34:NM_001286770:exon5:c.A1046C:p.K349T,ZNF34:NM_030580:exon6:c.A1166C:p.K389T,ZNF34:NM_001286769:exon6:c.A1103C:p.K368T, chr8 145999168 145999168 T G het . 26 +line20827 synonymous SNV ZNF7:NM_001349807:exon5:c.C963T:p.I321I,ZNF7:NM_001282797:exon4:c.C678T:p.I226I,ZNF7:NM_001349809:exon4:c.C1029T:p.I343I,ZNF7:NM_001349808:exon5:c.C1014T:p.I338I,ZNF7:NM_003416:exon5:c.C966T:p.I322I,ZNF7:NM_001349805:exon3:c.C678T:p.I226I,ZNF7:NM_001282795:exon5:c.C999T:p.I333I,ZNF7:NM_001349806:exon5:c.C1017T:p.I339I, chr8 146067458 146067458 C T het . 12 +line20828 nonsynonymous SNV COMMD5:NM_001081003:exon2:c.G608T:p.S203I,COMMD5:NM_001287237:exon2:c.G608T:p.S203I,COMMD5:NM_014066:exon2:c.G608T:p.S203I,COMMD5:NM_001081004:exon2:c.G608T:p.S203I, chr8 146076116 146076116 C A het . 9 +line20831 nonsynonymous SNV C9orf66:NM_152569:exon1:c.A340G:p.N114D, chr9 215057 215057 T C het . 7 +line20832 nonsynonymous SNV C9orf66:NM_152569:exon1:c.C337A:p.R113S, chr9 215060 215060 G T het . 6 +line20840 synonymous SNV KANK1:NM_001354343:exon2:c.G897C:p.L299L,KANK1:NM_001354341:exon2:c.G897C:p.L299L,KANK1:NM_001354334:exon4:c.G1371C:p.L457L,KANK1:NM_001256877:exon4:c.G1371C:p.L457L,KANK1:NM_001354344:exon2:c.G897C:p.L299L,KANK1:NM_001354332:exon3:c.G1371C:p.L457L,KANK1:NM_001354338:exon2:c.G897C:p.L299L,KANK1:NM_001354336:exon2:c.G897C:p.L299L,KANK1:NM_001354342:exon2:c.G897C:p.L299L,KANK1:NM_001256876:exon7:c.G1371C:p.L457L,KANK1:NM_001354331:exon3:c.G1371C:p.L457L,KANK1:NM_001354339:exon2:c.G897C:p.L299L,KANK1:NM_001354333:exon3:c.G897C:p.L299L,KANK1:NM_153186:exon2:c.G897C:p.L299L,KANK1:NM_001354337:exon2:c.G897C:p.L299L,KANK1:NM_001354335:exon2:c.G897C:p.L299L,KANK1:NM_015158:exon3:c.G1371C:p.L457L,KANK1:NM_001354340:exon2:c.G897C:p.L299L, chr9 712137 712137 G C het . 15 +line20841 nonsynonymous SNV KANK1:NM_001354343:exon2:c.T916G:p.S306A,KANK1:NM_001354341:exon2:c.T916G:p.S306A,KANK1:NM_001354334:exon4:c.T1390G:p.S464A,KANK1:NM_001256877:exon4:c.T1390G:p.S464A,KANK1:NM_001354344:exon2:c.T916G:p.S306A,KANK1:NM_001354332:exon3:c.T1390G:p.S464A,KANK1:NM_001354338:exon2:c.T916G:p.S306A,KANK1:NM_001354336:exon2:c.T916G:p.S306A,KANK1:NM_001354342:exon2:c.T916G:p.S306A,KANK1:NM_001256876:exon7:c.T1390G:p.S464A,KANK1:NM_001354331:exon3:c.T1390G:p.S464A,KANK1:NM_001354339:exon2:c.T916G:p.S306A,KANK1:NM_001354333:exon3:c.T916G:p.S306A,KANK1:NM_153186:exon2:c.T916G:p.S306A,KANK1:NM_001354337:exon2:c.T916G:p.S306A,KANK1:NM_001354335:exon2:c.T916G:p.S306A,KANK1:NM_015158:exon3:c.T1390G:p.S464A,KANK1:NM_001354340:exon2:c.T916G:p.S306A, chr9 712156 712156 T G het . 19 +line20842 nonsynonymous SNV KANK1:NM_001354343:exon2:c.T1937C:p.V646A,KANK1:NM_001354341:exon2:c.T1937C:p.V646A,KANK1:NM_001354334:exon4:c.T2411C:p.V804A,KANK1:NM_001256877:exon4:c.T2411C:p.V804A,KANK1:NM_001354344:exon2:c.T1937C:p.V646A,KANK1:NM_001354332:exon3:c.T2411C:p.V804A,KANK1:NM_001354338:exon2:c.T1937C:p.V646A,KANK1:NM_001354336:exon2:c.T1937C:p.V646A,KANK1:NM_001354342:exon2:c.T1937C:p.V646A,KANK1:NM_001256876:exon7:c.T2411C:p.V804A,KANK1:NM_001354331:exon3:c.T2411C:p.V804A,KANK1:NM_001354339:exon2:c.T1937C:p.V646A,KANK1:NM_001354333:exon3:c.T1937C:p.V646A,KANK1:NM_153186:exon2:c.T1937C:p.V646A,KANK1:NM_001354337:exon2:c.T1937C:p.V646A,KANK1:NM_001354335:exon2:c.T1937C:p.V646A,KANK1:NM_015158:exon3:c.T2411C:p.V804A,KANK1:NM_001354340:exon2:c.T1937C:p.V646A, chr9 713177 713177 T C het . 4 +line20844 synonymous SNV KANK1:NM_001354343:exon8:c.A3120G:p.G1040G,KANK1:NM_001354341:exon9:c.A3360G:p.G1120G,KANK1:NM_001354334:exon11:c.A3834G:p.G1278G,KANK1:NM_001256877:exon11:c.A3834G:p.G1278G,KANK1:NM_001354344:exon9:c.A3306G:p.G1102G,KANK1:NM_001354332:exon10:c.A3780G:p.G1260G,KANK1:NM_001354338:exon9:c.A3306G:p.G1102G,KANK1:NM_001354336:exon8:c.A3066G:p.G1022G,KANK1:NM_001354342:exon8:c.A3120G:p.G1040G,KANK1:NM_001256876:exon14:c.A3834G:p.G1278G,KANK1:NM_001354331:exon9:c.A3594G:p.G1198G,KANK1:NM_001354339:exon8:c.A3120G:p.G1040G,KANK1:NM_001354333:exon10:c.A3360G:p.G1120G,KANK1:NM_153186:exon9:c.A3360G:p.G1120G,KANK1:NM_001354337:exon9:c.A3360G:p.G1120G,KANK1:NM_001354335:exon9:c.A3360G:p.G1120G,KANK1:NM_015158:exon10:c.A3834G:p.G1278G,KANK1:NM_001354340:exon9:c.A3306G:p.G1102G, chr9 742342 742342 A G het . 4 +line20864 synonymous SNV SLC1A1:NM_004170:exon2:c.T165C:p.P55P, chr9 4544640 4544640 T C het . 28 +line20915 synonymous SNV MPDZ:NM_001261407:exon41:c.T5445C:p.I1815I,MPDZ:NM_001330637:exon43:c.T5631C:p.I1877I,MPDZ:NM_003829:exon42:c.T5544C:p.I1848I,MPDZ:NM_001261406:exon42:c.T5532C:p.I1844I, chr9 13112116 13112116 A G het . 3 +line20920 nonsynonymous SNV ZDHHC21:NM_001354130:exon8:c.G91T:p.G31C,ZDHHC21:NM_001354124:exon8:c.G382T:p.G128C,ZDHHC21:NM_001354126:exon8:c.G295T:p.G99C,ZDHHC21:NM_001354128:exon8:c.G91T:p.G31C,ZDHHC21:NM_001354122:exon8:c.G382T:p.G128C,ZDHHC21:NM_001354129:exon8:c.G91T:p.G31C,ZDHHC21:NM_001354119:exon8:c.G382T:p.G128C,ZDHHC21:NM_001354123:exon8:c.G382T:p.G128C,ZDHHC21:NM_001354125:exon9:c.G295T:p.G99C,ZDHHC21:NM_001354118:exon9:c.G382T:p.G128C,ZDHHC21:NM_001354121:exon8:c.G382T:p.G128C,ZDHHC21:NM_001354120:exon9:c.G382T:p.G128C,ZDHHC21:NM_178566:exon7:c.G382T:p.G128C,ZDHHC21:NM_001354127:exon7:c.G91T:p.G31C, chr9 14658869 14658869 C A het . 16 +line20940 nonsynonymous SNV ADAMTSL1:NM_001040272:exon23:c.A4226G:p.D1409G, chr9 18829952 18829952 A G het . 10 +line20945 nonsynonymous SNV DENND4C:NM_001330640:exon29:c.C5218A:p.L1740I,DENND4C:NM_017925:exon28:c.C5071A:p.L1691I, chr9 19360299 19360299 C A het . 14 +line20965 nonsynonymous SNV IFNA2:NM_000605:exon1:c.A304C:p.T102P, chr9 21385025 21385025 T G het . 30 +line20977 nonsynonymous SNV TUSC1:NM_001004125:exon1:c.T622G:p.S208A, chr9 25677698 25677698 A C het . 4 +line21000 stopgain TAF1L:NM_153809:exon1:c.G296A:p.W99X, chr9 32635282 32635282 C T het . 11 +line21005 nonsynonymous SNV APTX:NM_001195248:exon5:c.A527T:p.E176V,APTX:NM_001195250:exon4:c.A365T:p.E122V,APTX:NM_001195249:exon5:c.A485T:p.E162V,APTX:NM_001195251:exon6:c.A485T:p.E162V,APTX:NM_001195254:exon4:c.A323T:p.E108V,APTX:NM_175069:exon5:c.A527T:p.E176V,APTX:NM_175073:exon6:c.A485T:p.E162V,APTX:NM_001195252:exon5:c.A311T:p.E104V, chr9 32986027 32986027 T A het . 8 +line21018 nonframeshift deletion PRSS3:NM_002771:exon2:c.91_93del:p.31_31del,PRSS3:NM_001197098:exon2:c.70_72del:p.24_24del,PRSS3:NM_007343:exon2:c.262_264del:p.88_88del,PRSS3:NM_001197097:exon3:c.133_135del:p.45_45del, chr9 33796691 33796693 GAG - het . 18 +line21025 nonsynonymous SNV DCAF12:NM_015397:exon2:c.G88T:p.D30Y, chr9 34125266 34125266 C A het . 10 +line21026 stopgain KIF24:NM_194313:exon11:c.C2109A:p.C703X, chr9 34257496 34257496 G T het . 2 +line21028 nonframeshift substitution FAM205A:NM_001141917:exon4:c.597_598GT, chr9 34726639 34726640 CA AC het . 6 +line21029 nonsynonymous SNV FAM205A:NM_001141917:exon4:c.C566T:p.T189M, chr9 34726671 34726671 G A het . 4 +line21030 nonsynonymous SNV FAM205A:NM_001141917:exon1:c.G87T:p.W29C, chr9 34729338 34729338 C A het . 6 +line21032 nonsynonymous SNV PHF24:NM_001347982:exon7:c.C1011A:p.S337R,PHF24:NM_001347983:exon7:c.C1011A:p.S337R, chr9 34977540 34977540 C A het . 8 +line21033 synonymous SNV C9orf131:NM_001040411:exon2:c.A804C:p.P268P,C9orf131:NM_001287391:exon2:c.A804C:p.P268P,C9orf131:NM_001040412:exon3:c.A879C:p.P293P,C9orf131:NM_001040410:exon2:c.A918C:p.P306P,C9orf131:NM_203299:exon2:c.A1023C:p.P341P, chr9 35043649 35043649 A C het . 7 +line21039 synonymous SNV FAM166B:NM_001164310:exon5:c.C567T:p.C189C, chr9 35562549 35562549 G A het . 1 +line21397 nonsynonymous SNV PCSK5:NM_001190482:exon32:c.C4336T:p.R1446C, chr9 78943002 78943002 C T het . 15 +line21402 nonsynonymous SNV PRUNE2:NM_001308047:exon8:c.G5837A:p.G1946D,PRUNE2:NM_001308048:exon8:c.G5837A:p.G1946D,PRUNE2:NM_015225:exon8:c.G5837A:p.G1946D, chr9 79321353 79321353 C T het . 6 +line21438 synonymous SNV KIF27:NM_001354069:exon14:c.T2793A:p.I931I,KIF27:NM_001354071:exon14:c.T1530A:p.I510I,KIF27:NM_001271927:exon14:c.T2988A:p.I996I,KIF27:NM_017576:exon15:c.T3186A:p.I1062I,KIF27:NM_001271928:exon13:c.T2895A:p.I965I,KIF27:NM_001354070:exon15:c.T1746A:p.I582I, chr9 86468715 86468715 A T het . 5 +line21440 nonsynonymous SNV KIF27:NM_001354069:exon5:c.G516T:p.K172N,KIF27:NM_001271927:exon4:c.G516T:p.K172N,KIF27:NM_017576:exon4:c.G516T:p.K172N,KIF27:NM_001271928:exon4:c.G516T:p.K172N, chr9 86518917 86518917 C A het . 4 +line21442 nonsynonymous SNV RMI1:NM_001358293:exon4:c.C208A:p.P70T,RMI1:NM_001358294:exon3:c.C208A:p.P70T,RMI1:NM_001358292:exon4:c.C208A:p.P70T,RMI1:NM_001358291:exon3:c.C208A:p.P70T,RMI1:NM_024945:exon3:c.C208A:p.P70T, chr9 86616109 86616109 C A het . 20 +line21494 nonsynonymous SNV S1PR3:NM_005226:exon2:c.C696A:p.H232Q, chr9 91616811 91616811 C A het . 17 +line21539 nonsynonymous SNV NOL8:NM_017948:exon7:c.G1523T:p.S508I,NOL8:NM_001256394:exon8:c.G1319T:p.S440I,NOL8:NM_001330722:exon7:c.G1523T:p.S508I, chr9 95077384 95077384 C A het . 36 +line21541 nonsynonymous SNV OMD:NM_005014:exon2:c.G393T:p.K131N, chr9 95179448 95179448 C A het . 46 +line21559 nonsynonymous SNV SUSD3:NM_001287005:exon4:c.A367G:p.K123E,SUSD3:NM_001287008:exon2:c.A217G:p.K73E,SUSD3:NM_001287006:exon3:c.A406G:p.K136E,SUSD3:NM_145006:exon3:c.A406G:p.K136E,SUSD3:NM_001287007:exon2:c.A217G:p.K73E, chr9 95840256 95840256 A G het . 29 +line21560 nonsynonymous SNV SUSD3:NM_001287005:exon4:c.C380A:p.S127Y,SUSD3:NM_001287008:exon2:c.C230A:p.S77Y,SUSD3:NM_001287006:exon3:c.C419A:p.S140Y,SUSD3:NM_145006:exon3:c.C419A:p.S140Y,SUSD3:NM_001287007:exon2:c.C230A:p.S77Y, chr9 95840269 95840269 C A het . 26 +line21570 synonymous SNV WNK2:NM_001282394:exon11:c.A2538C:p.P846P,WNK2:NM_006648:exon11:c.A2538C:p.P846P, chr9 96021368 96021368 A C het . 29 +line21582 nonframeshift insertion PHF2:NM_005392:exon21:c.2961_2962insCCTGCCTCCACCACA:p.T987delinsTPASTT, chr9 96439004 96439004 - CCTGCCTCCACCACA het . 15 +line21587 nonsynonymous SNV BARX1:NM_021570:exon4:c.G733T:p.G245C, chr9 96714478 96714478 C A het . 35 +line21588 synonymous SNV BARX1:NM_021570:exon4:c.G720C:p.P240P, chr9 96714491 96714491 C G het . 41 +line21601 nonsynonymous SNV FBP1:NM_001127628:exon6:c.G653A:p.R218K,FBP1:NM_000507:exon5:c.G653A:p.R218K, chr9 97369149 97369149 C T het . 37 +line21602 synonymous SNV FBP1:NM_001127628:exon6:c.C651T:p.A217A,FBP1:NM_000507:exon5:c.C651T:p.A217A, chr9 97369151 97369151 G A het . 37 +line21611 nonsynonymous SNV FANCC:NM_000136:exon2:c.G48C:p.M16I,FANCC:NM_001243744:exon2:c.G48C:p.M16I,FANCC:NM_001243743:exon2:c.G48C:p.M16I, chr9 98011526 98011526 C G het . 39 +line21621 nonsynonymous SNV ERCC6L2:NM_001010895:exon2:c.A80G:p.D27G,ERCC6L2:NM_020207:exon2:c.A80G:p.D27G, chr9 98643151 98643151 A G het . 23 +line21637 nonsynonymous SNV NUTM2G:NM_001045477:exon5:c.G1122C:p.E374D,NUTM2G:NM_001170741:exon5:c.G1122C:p.E374D, chr9 99699485 99699485 G C het . 10 +line21645 nonframeshift insertion CCDC180:NM_001348010:exon19:c.2316_2317insGAGGAG:p.E772delinsEEE,CCDC180:NM_020893:exon18:c.2325_2326insGAGGAG:p.E775delinsEEE, chr9 100092968 100092968 - GAGGAG het . 20 +line21647 nonsynonymous SNV TDRD7:NM_014290:exon7:c.C1225A:p.P409T,TDRD7:NM_001302884:exon6:c.C1003A:p.P335T, chr9 100222829 100222829 C A het . 34 +line21648 nonsynonymous SNV TDRD7:NM_014290:exon8:c.C1552A:p.Q518K,TDRD7:NM_001302884:exon7:c.C1330A:p.Q444K, chr9 100227233 100227233 C A het . 35 +line21649 nonsynonymous SNV TDRD7:NM_014290:exon14:c.C2330G:p.P777R,TDRD7:NM_001302884:exon13:c.C2108G:p.P703R, chr9 100243138 100243138 C G het . 34 +line21653 nonsynonymous SNV TBC1D2:NM_001267571:exon9:c.G2112T:p.W704C,TBC1D2:NM_018421:exon9:c.G2112T:p.W704C,TBC1D2:NM_001267572:exon3:c.G732T:p.W244C, chr9 100970988 100970988 C A het . 4 +line21677 nonsynonymous SNV ALG2:NM_033087:exon2:c.G747T:p.Q249H, chr9 101980720 101980720 C A het . 35 +line21698 nonsynonymous SNV INVS:NM_014425:exon4:c.C357A:p.H119Q,INVS:NM_001318381:exon5:c.C69A:p.H23Q, chr9 102988427 102988427 C A het . 36 +line21720 stopgain GRIN3A:NM_133445:exon6:c.G2665T:p.E889X, chr9 104375759 104375759 C A het . 33 +line21721 nonframeshift substitution GRIN3A:NM_133445:exon5:c.2502_2503CA, chr9 104385711 104385712 CA TG het . 39 +line21723 nonsynonymous SNV GRIN3A:NM_133445:exon3:c.G1727T:p.C576F, chr9 104432967 104432967 C A het . 27 +line21724 nonsynonymous SNV GRIN3A:NM_133445:exon2:c.C965T:p.T322I, chr9 104449217 104449217 G A het . 29 +line21736 nonsynonymous SNV SMC2:NM_001042551:exon2:c.A71C:p.D24A,SMC2:NM_006444:exon2:c.A71C:p.D24A,SMC2:NM_001265602:exon2:c.A71C:p.D24A,SMC2:NM_001042550:exon2:c.A71C:p.D24A, chr9 106857736 106857736 A C het . 26 +line21742 nonsynonymous SNV OR13C5:NM_001004482:exon1:c.G566A:p.C189Y, chr9 107361129 107361129 C T het . 20 +line21743 nonsynonymous SNV OR13C5:NM_001004482:exon1:c.G509T:p.R170M, chr9 107361186 107361186 C A het . 4 +line21748 nonsynonymous SNV ABCA1:NM_005502:exon26:c.A3748G:p.K1250E, chr9 107576747 107576747 T C het . 27 +line21765 synonymous SNV ZNF462:NM_021224:exon3:c.C4353A:p.S1451S, chr9 109690546 109690546 C A het . 10 +line21766 nonsynonymous SNV ZNF462:NM_021224:exon7:c.C6241A:p.H2081N,ZNF462:NM_001347997:exon7:c.C3646A:p.H1216N, chr9 109701202 109701202 C A het . 7 +line21783 nonframeshift substitution FRRS1L:NM_014334:exon1:c.151_152GC, chr9 111929420 111929421 CG GC het . 2 +line21784 synonymous SNV FRRS1L:NM_014334:exon1:c.C142T:p.L48L, chr9 111929430 111929430 G A het . 2 +line21790 nonsynonymous SNV AKAP2:NM_001198656:exon2:c.A1111C:p.K371Q,PALM2-AKAP2:NM_007203:exon8:c.A1537C:p.K513Q,PALM2-AKAP2:NM_147150:exon8:c.A1537C:p.K513Q,AKAP2:NM_001136562:exon2:c.A844C:p.K282Q,AKAP2:NM_001004065:exon2:c.A1111C:p.K371Q, chr9 112899361 112899361 A C het . 24 +line21791 nonframeshift deletion AKAP2:NM_001198656:exon2:c.1120_1122del:p.374_374del,PALM2-AKAP2:NM_007203:exon8:c.1546_1548del:p.516_516del,PALM2-AKAP2:NM_147150:exon8:c.1546_1548del:p.516_516del,AKAP2:NM_001136562:exon2:c.853_855del:p.285_285del,AKAP2:NM_001004065:exon2:c.1120_1122del:p.374_374del, chr9 112899370 112899372 CAG - het . 18 +line21794 nonframeshift substitution SVEP1:NM_153366:exon38:c.8249_8250TG, chr9 113169630 113169631 TG CA het . 13 +line21802 synonymous SNV OR2K2:NM_205859:exon1:c.T435C:p.A145A, chr9 114090279 114090279 A G het . 14 +line21803 nonsynonymous SNV OR2K2:NM_205859:exon1:c.G428A:p.R143Q, chr9 114090286 114090286 C T het . 15 +line21810 nonsynonymous SNV ZNF483:NM_133464:exon2:c.C44A:p.P15Q,ZNF483:NM_001007169:exon2:c.C44A:p.P15Q, chr9 114289719 114289719 C A het . 18 +line21841 frameshift deletion C9orf147:NM_001350649:exon5:c.510_513del:p.I170fs, chr9 115216223 115216226 ATTA - het . 5 +line21849 stopgain ZNF883:NM_001101338:exon5:c.C928T:p.R310X, chr9 115759612 115759612 G A het . 30 +line21852 nonsynonymous SNV SLC31A2:NM_001860:exon3:c.C163A:p.L55M, chr9 115923878 115923878 C A het . 9 +line21869 nonsynonymous SNV AMBP:NM_001633:exon8:c.G845A:p.R282Q, chr9 116823712 116823712 C T het . 9 +line21874 nonsynonymous SNV COL27A1:NM_032888:exon47:c.C4303A:p.Q1435K, chr9 117052546 117052546 C A het . 8 +line21875 nonsynonymous SNV COL27A1:NM_032888:exon61:c.C5488A:p.P1830T, chr9 117072880 117072880 C A het . 18 +line21889 nonsynonymous SNV PAPPA:NM_002581:exon2:c.G1319A:p.C440Y, chr9 118950336 118950336 G A het . 19 +line21890 nonsynonymous SNV PAPPA:NM_002581:exon2:c.C1340A:p.A447D, chr9 118950357 118950357 C A het . 23 +line21897 synonymous SNV ASTN2:NM_001365068:exon2:c.A459G:p.A153A,ASTN2:NM_001365069:exon2:c.A459G:p.A153A,ASTN2:NM_014010:exon2:c.A459G:p.A153A, chr9 120053776 120053776 T C het . 4 +line21918 nonsynonymous SNV CDK5RAP2:NM_018249:exon6:c.G412A:p.G138S,CDK5RAP2:NM_001011649:exon6:c.G412A:p.G138S,CDK5RAP2:NM_001272039:exon6:c.G412A:p.G138S, chr9 123301414 123301414 C T het . 47 +line21931 nonsynonymous SNV CNTRL:NM_007018:exon39:c.C6467A:p.A2156E,CNTRL:NM_001330762:exon30:c.C4811A:p.A1604E, chr9 123935570 123935570 C A het . 27 +line21938 synonymous SNV LHX6:NM_001348190:exon6:c.T738G:p.A246A,LHX6:NM_014368:exon7:c.T825G:p.A275A,LHX6:NM_001242335:exon4:c.T177G:p.A59A,LHX6:NM_001242334:exon6:c.T738G:p.A246A,LHX6:NM_001242333:exon7:c.T792G:p.A264A,LHX6:NM_199160:exon7:c.T825G:p.A275A, chr9 124976307 124976307 A C het . 24 +line21940 synonymous SNV OR1L8:NM_001004454:exon1:c.T573G:p.S191S, chr9 125330184 125330184 A C het . 9 +line21941 nonsynonymous SNV OR1B1:NM_001004450:exon1:c.C803G:p.P268R, chr9 125391012 125391012 G C het . 4 +line21942 nonsynonymous SNV OR1B1:NM_001004450:exon1:c.T789G:p.C263W, chr9 125391026 125391026 A C het . 4 +line21948 nonsynonymous SNV CRB2:NM_173689:exon8:c.T2126C:p.V709A, chr9 126133547 126133547 T C het . 2 +line21949 synonymous SNV CRB2:NM_173689:exon9:c.G2523A:p.T841T, chr9 126134542 126134542 G A het . 8 +line21977 synonymous SNV ANGPTL2:NM_012098:exon2:c.A648C:p.P216P, chr9 129870363 129870363 T G het . 3 +line21978 nonsynonymous SNV ANGPTL2:NM_012098:exon2:c.A644C:p.Q215P, chr9 129870367 129870367 T G het . 3 +line21979 synonymous SNV ANGPTL2:NM_012098:exon2:c.C639G:p.V213V, chr9 129870372 129870372 G C het . 4 +line21982 synonymous SNV SLC2A8:NM_001271712:exon3:c.C195T:p.S65S,SLC2A8:NM_001271711:exon5:c.C684T:p.S228S,SLC2A8:NM_014580:exon5:c.C684T:p.S228S, chr9 130164993 130164993 C T het . 4 +line21989 synonymous SNV FAM102A:NM_001035254:exon9:c.T1014C:p.D338D,FAM102A:NM_203305:exon6:c.T588C:p.D196D, chr9 130707081 130707081 A G het . 2 +line21991 synonymous SNV PTGES2:NM_025072:exon7:c.G1047A:p.A349A,PTGES2:NM_198938:exon8:c.G474A:p.A158A,PTGES2:NM_001256335:exon8:c.G474A:p.A158A, chr9 130883511 130883511 C T het . 6 +line22007 nonsynonymous SNV ODF2:NM_001351579:exon17:c.C1747A:p.Q583K,ODF2:NM_001242353:exon17:c.C1762A:p.Q588K,ODF2:NM_153436:exon16:c.C1762A:p.Q588K,ODF2:NM_001351587:exon16:c.C1576A:p.Q526K,ODF2:NM_001351584:exon17:c.C1747A:p.Q583K,ODF2:NM_153440:exon16:c.C1705A:p.Q569K,ODF2:NM_001351578:exon17:c.C2011A:p.Q671K,ODF2:NM_001351580:exon18:c.C1747A:p.Q583K,ODF2:NM_153433:exon17:c.C1762A:p.Q588K,ODF2:NM_001351583:exon17:c.C1690A:p.Q564K,ODF2:NM_001351577:exon17:c.C2011A:p.Q671K,ODF2:NM_002540:exon19:c.C1690A:p.Q564K,ODF2:NM_001351585:exon18:c.C1747A:p.Q583K,ODF2:NM_153437:exon17:c.C1705A:p.Q569K,ODF2:NM_001351581:exon16:c.C1894A:p.Q632K,ODF2:NM_001242352:exon17:c.C1747A:p.Q583K,ODF2:NM_153435:exon17:c.C1954A:p.Q652K,ODF2:NM_001351582:exon18:c.C1879A:p.Q627K,ODF2:NM_153432:exon16:c.C1894A:p.Q632K,ODF2:NM_001242354:exon16:c.C1519A:p.Q507K,ODF2:NM_001351588:exon16:c.C1519A:p.Q507K,ODF2:NM_001351586:exon17:c.C1690A:p.Q564K, chr9 131256798 131256798 C A het . 5 +line22009 nonsynonymous SNV SPTAN1:NM_001363759:exon14:c.C1693A:p.R565S,SPTAN1:NM_001130438:exon14:c.C1693A:p.R565S,SPTAN1:NM_003127:exon14:c.C1693A:p.R565S,SPTAN1:NM_001363765:exon14:c.C1693A:p.R565S,SPTAN1:NM_001195532:exon14:c.C1693A:p.R565S, chr9 131345015 131345015 C A het . 30 +line22011 synonymous SNV WDR34:NM_052844:exon6:c.C873T:p.T291T, chr9 131397479 131397479 G A het . 10 +line22016 nonsynonymous SNV TBC1D13:NM_018201:exon7:c.T536G:p.V179G,TBC1D13:NM_001286772:exon7:c.T536G:p.V179G, chr9 131559486 131559486 T G het . 7 +line22017 nonsynonymous SNV SPOUT1:NM_016390:exon12:c.T1106C:p.I369T, chr9 131585069 131585069 A G het . 10 +line22021 synonymous SNV NUP188:NM_015354:exon40:c.C4659A:p.G1553G, chr9 131767731 131767731 C A het . 11 +line22037 synonymous SNV USP20:NM_001110303:exon18:c.C1806T:p.H602H,USP20:NM_001008563:exon18:c.C1806T:p.H602H,USP20:NM_006676:exon18:c.C1806T:p.H602H, chr9 132636920 132636920 C T het . 9 +line22038 synonymous SNV FNBP1:NM_001363755:exon14:c.C1446T:p.C482C,FNBP1:NM_015033:exon14:c.C1533T:p.C511C, chr9 132662722 132662722 G A het . 2 +line22047 synonymous SNV FUBP3:NM_003934:exon2:c.A165G:p.V55V, chr9 133470950 133470950 A G het . 7 +line22057 synonymous SNV NUP214:NM_001318325:exon6:c.C2196A:p.A732A,NUP214:NM_001318324:exon31:c.C5688A:p.A1896A,NUP214:NM_005085:exon31:c.C5718A:p.A1906A, chr9 134090724 134090724 C A het . 9 +line22058 nonsynonymous SNV NUP214:NM_001318325:exon6:c.G2203T:p.G735C,NUP214:NM_001318324:exon31:c.G5695T:p.G1899C,NUP214:NM_005085:exon31:c.G5725T:p.G1909C, chr9 134090731 134090731 G T het . 10 +line22064 nonsynonymous SNV PRRC2B:NM_013318:exon3:c.C305T:p.T102M, chr9 134312018 134312018 C T het . 13 +line22068 synonymous SNV POMT1:NM_001136114:exon12:c.G1014A:p.K338K,POMT1:NM_001353193:exon14:c.G1431A:p.K477K,POMT1:NM_001136113:exon14:c.G1365A:p.K455K,POMT1:NM_001353197:exon13:c.G1269A:p.K423K,POMT1:NM_001353196:exon13:c.G1275A:p.K425K,POMT1:NM_001353200:exon11:c.G909A:p.K303K,POMT1:NM_001353194:exon13:c.G1203A:p.K401K,POMT1:NM_001353199:exon12:c.G1080A:p.K360K,POMT1:NM_001353195:exon13:c.G1014A:p.K338K,POMT1:NM_001077365:exon14:c.G1365A:p.K455K,POMT1:NM_001077366:exon13:c.G1203A:p.K401K,POMT1:NM_001353198:exon14:c.G1269A:p.K423K,POMT1:NM_007171:exon14:c.G1431A:p.K477K, chr9 134393924 134393924 G A het . 18 +line22081 synonymous SNV SETX:NM_001351527:exon10:c.A4197G:p.T1399T,SETX:NM_001351528:exon10:c.A4197G:p.T1399T,SETX:NM_015046:exon10:c.A4197G:p.T1399T, chr9 135202788 135202788 T C het . 38 +line22082 synonymous SNV SETX:NM_001351527:exon4:c.G354T:p.L118L,SETX:NM_001351528:exon4:c.G354T:p.L118L,SETX:NM_015046:exon4:c.G354T:p.L118L, chr9 135221682 135221682 C A het . 40 +line22085 nonsynonymous SNV DDX31:NM_022779:exon11:c.G1182T:p.L394F,DDX31:NM_001322343:exon11:c.G795T:p.L265F,DDX31:NM_138620:exon11:c.G1182T:p.L394F,DDX31:NM_001322342:exon11:c.G651T:p.L217F,DDX31:NM_001322340:exon11:c.G1182T:p.L394F,DDX31:NM_001322341:exon12:c.G894T:p.L298F, chr9 135523676 135523676 C A het . 15 +line22089 nonsynonymous SNV AK8:NM_152572:exon8:c.G582T:p.W194C,AK8:NM_001317959:exon10:c.G66T:p.W22C, chr9 135702416 135702416 C A het . 17 +line22103 synonymous SNV OBP2B:NM_014581:exon3:c.A217C:p.R73R,OBP2B:NM_001288987:exon3:c.A217C:p.R73R, chr9 136083580 136083580 T G het . 6 +line22104 unknown UNKNOWN chr9 136131289 136131289 C T het . 15 +line22109 unknown UNKNOWN chr9 136135237 136135238 AT GC het . 22 +line22122 synonymous SNV SARDH:NM_007101:exon2:c.G150A:p.Q50Q,SARDH:NM_001134707:exon2:c.G150A:p.Q50Q, chr9 136599146 136599146 C T het . 7 +line22127 nonframeshift deletion BRD3:NM_007371:exon9:c.1504_1506del:p.502_502del, chr9 136905293 136905295 CTT - het . 46 +line22128 nonsynonymous SNV BRD3:NM_007371:exon9:c.G1447T:p.A483S, chr9 136905352 136905352 C A het . 29 +line22129 synonymous SNV BRD3:NM_007371:exon2:c.A63C:p.P21P, chr9 136918537 136918537 T G het . 2 +line22130 nonsynonymous SNV BRD3:NM_007371:exon2:c.A58G:p.N20D, chr9 136918542 136918542 T C het . 2 +line22131 synonymous SNV BRD3:NM_007371:exon2:c.T54G:p.P18P, chr9 136918546 136918546 A C het . 2 +line22134 nonsynonymous SNV RXRA:NM_001291921:exon4:c.G471A:p.M157I,RXRA:NM_001291920:exon5:c.G681A:p.M227I,RXRA:NM_002957:exon5:c.G762A:p.M254I, chr9 137309155 137309155 G A het . 6 +line22153 nonsynonymous SNV OBP2A:NM_001293189:exon5:c.G454C:p.V152L,OBP2A:NM_001293193:exon4:c.G320C:p.G107A,OBP2A:NM_014582:exon5:c.G389C:p.G130A, chr9 138440554 138440554 G C het . 6 +line22154 nonsynonymous SNV OBP2A:NM_001293193:exon4:c.C328T:p.P110S,OBP2A:NM_014582:exon5:c.C397T:p.P133S, chr9 138440562 138440562 C T het . 6 +line22155 nonsynonymous SNV OBP2A:NM_001293189:exon5:c.G524C:p.R175P, chr9 138440624 138440624 G C het . 4 +line22162 nonsynonymous SNV SOHLH1:NM_001012415:exon2:c.G110A:p.R37Q,SOHLH1:NM_001101677:exon2:c.G110A:p.R37Q, chr9 138590928 138590928 C T het . 11 +line22171 synonymous SNV QSOX2:NM_181701:exon7:c.G897A:p.L299L, chr9 139110935 139110935 C T het . 18 +line22172 nonsynonymous SNV CARD9:NM_052813:exon2:c.G35A:p.S12N,CARD9:NM_052814:exon2:c.G35A:p.S12N, chr9 139266496 139266496 C T het . 19 +line22180 synonymous SNV SEC16A:NM_014866:exon3:c.C1851T:p.H617H,SEC16A:NM_001276418:exon2:c.C1851T:p.H617H, chr9 139370217 139370217 G A het . 34 +line22181 nonframeshift substitution SEC16A:NM_014866:exon3:c.179_180CC,SEC16A:NM_001276418:exon2:c.179_180CC, chr9 139371888 139371889 CT GG het . 25 +line22183 nonsynonymous SNV NOTCH1:NM_017617:exon25:c.G4520T:p.S1507I, chr9 139399828 139399828 C A het . 16 +line22184 synonymous SNV NOTCH1:NM_017617:exon14:c.T2265C:p.N755N, chr9 139407932 139407932 A G het . 24 +line22194 nonsynonymous SNV CCDC183:NM_001039374:exon10:c.T1024C:p.W342R, chr9 139700605 139700605 T C het . 27 +line22195 nonsynonymous SNV C8G:NM_000606:exon4:c.A353G:p.D118G, chr9 139840543 139840543 A G het . 5 +line22198 nonsynonymous SNV SAPCD2:NM_178448:exon6:c.A1118G:p.K373R, chr9 139959178 139959178 T C het . 22 +line22210 nonsynonymous SNV DPP7:NM_013379:exon3:c.C266G:p.A89G, chr9 140008750 140008750 G C het . 17 +line22214 nonsynonymous SNV RNF224:NM_001190228:exon3:c.C319A:p.P107T, chr9 140123386 140123386 C A het . 28 +line22215 synonymous SNV TUBB4B:NM_006088:exon4:c.C1011T:p.N337N, chr9 140137681 140137681 C T het . 27 +line22218 nonsynonymous SNV PNPLA7:NM_001098537:exon14:c.T1346C:p.V449A,PNPLA7:NM_152286:exon13:c.T1271C:p.V424A, chr9 140400193 140400193 A G het . 13 +line22219 stoploss ARRDC1:NM_001317968:exon7:c.T1327C:p.X443R, chr9 140509542 140509542 T C het . 3 +line22220 synonymous SNV EHMT1:NM_001354612:exon2:c.C387T:p.G129G,EHMT1:NM_024757:exon3:c.C480T:p.G160G,EHMT1:NM_001354263:exon3:c.C480T:p.G160G,EHMT1:NM_001354259:exon2:c.C387T:p.G129G,EHMT1:NM_001354611:exon3:c.C480T:p.G160G,EHMT1:NM_001145527:exon3:c.C480T:p.G160G, chr9 140611472 140611472 C T het . 4 +line22229 nonsynonymous SNV DIP2C:NM_014974:exon35:c.G4256T:p.G1419V, chr10 329250 329250 C A het . 6 +line22235 nonsynonymous SNV DIP2C:NM_014974:exon3:c.G211A:p.A71T, chr10 518436 518436 C T het . 15 +line22243 nonsynonymous SNV IDI2:NM_033261:exon2:c.T26A:p.V9D, chr10 1070638 1070638 A T het . 17 +line22259 synonymous SNV PFKP:NM_002627:exon4:c.A351C:p.R117R,PFKP:NM_001323072:exon5:c.A237C:p.R79R,PFKP:NM_001323068:exon4:c.A351C:p.R117R,PFKP:NM_001323067:exon4:c.A270C:p.R90R,PFKP:NM_001323071:exon5:c.A237C:p.R79R,PFKP:NM_001242339:exon6:c.A327C:p.R109R,PFKP:NM_001345944:exon4:c.A237C:p.R79R, chr10 3143643 3143643 A C het . 4 +line22262 nonsynonymous SNV PITRM1:NM_001347729:exon9:c.A958G:p.I320V,PITRM1:NM_014889:exon9:c.A982G:p.I328V,PITRM1:NM_001242309:exon8:c.A886G:p.I296V,PITRM1:NM_001347725:exon9:c.A982G:p.I328V,PITRM1:NM_001347730:exon9:c.A958G:p.I320V,PITRM1:NM_001242307:exon9:c.A982G:p.I328V,PITRM1:NM_001347727:exon9:c.A367G:p.I123V,PITRM1:NM_001347726:exon9:c.A367G:p.I123V, chr10 3202065 3202065 T C het . 20 +line22283 synonymous SNV AKR1C3:NM_001253909:exon3:c.G312A:p.K104K,AKR1C3:NM_003739:exon3:c.G312A:p.K104K,AKR1C3:NM_001253908:exon3:c.G312A:p.K104K, chr10 5139685 5139685 G A het . 20 +line22301 nonsynonymous SNV TUBAL3:NM_024803:exon2:c.G150T:p.E50D,TUBAL3:NM_001171864:exon2:c.G30T:p.E10D, chr10 5442904 5442904 C A het . 28 +line22308 stopgain FAM208B:NM_001321784:exon14:c.C1991A:p.S664X,FAM208B:NM_017782:exon13:c.C1991A:p.S664X,FAM208B:NM_001321785:exon13:c.C1748A:p.S583X,FAM208B:NM_001321783:exon14:c.C1991A:p.S664X, chr10 5782124 5782124 C A het . 18 +line22352 synonymous SNV GATA3:NM_001002295:exon3:c.C573T:p.P191P,GATA3:NM_002051:exon3:c.C573T:p.P191P, chr10 8100599 8100599 C T het . 34 +line22387 nonsynonymous SNV USP6NL:NM_014688:exon15:c.C2177A:p.P726Q,USP6NL:NM_001080491:exon14:c.C2228A:p.P743Q, chr10 11504750 11504750 G T het . 30 +line22389 nonsynonymous SNV USP6NL:NM_014688:exon7:c.G312T:p.Q104H,USP6NL:NM_001080491:exon6:c.G363T:p.Q121H, chr10 11543172 11543172 C A het . 23 +line22396 nonsynonymous SNV DHTKD1:NM_018706:exon1:c.T58C:p.F20L, chr10 12111090 12111090 T C het . 21 +line22397 nonsynonymous SNV DHTKD1:NM_018706:exon7:c.C1219T:p.R407C, chr10 12136131 12136131 C T het . 19 +line22398 synonymous SNV DHTKD1:NM_018706:exon11:c.A1911C:p.P637P, chr10 12148259 12148259 A C het . 13 +line22399 synonymous SNV DHTKD1:NM_018706:exon11:c.T1938C:p.F646F, chr10 12148286 12148286 T C het . 20 +line22417 nonsynonymous SNV MCM10:NM_182751:exon5:c.G583C:p.A195P,MCM10:NM_018518:exon5:c.G580C:p.A194P, chr10 13214753 13214753 G C het . 11 +line22462 synonymous SNV ITGA8:NM_003638:exon7:c.G741A:p.R247R,ITGA8:NM_001291494:exon7:c.G741A:p.R247R, chr10 15714684 15714684 C T het . 19 +line22473 nonsynonymous SNV CUBN:NM_001081:exon51:c.G7974T:p.L2658F, chr10 16946053 16946053 C A het . 38 +line22510 nonsynonymous SNV MALRD1:NM_001142308:exon24:c.A3797C:p.D1266A, chr10 19620407 19620407 A C het . 30 +line22511 nonsynonymous SNV MALRD1:NM_001142308:exon24:c.A3829G:p.I1277V, chr10 19620439 19620439 A G het . 26 +line22535 nonsynonymous SNV SKIDA1:NM_207371:exon4:c.G419T:p.R140L, chr10 21806333 21806333 C A het . 3 +line22539 nonsynonymous SNV EBLN1:NM_001199938:exon1:c.G445A:p.G149R, chr10 22498468 22498468 C T het . 34 +line22540 nonframeshift insertion EBLN1:NM_001199938:exon1:c.428_429insTCT:p.L143delinsLL, chr10 22498484 22498484 - AGA het . 30 +line22544 nonsynonymous SNV SPAG6:NM_001253855:exon9:c.A1357C:p.N453H,SPAG6:NM_012443:exon10:c.A1423C:p.N475H,SPAG6:NM_001253854:exon13:c.A1348C:p.N450H, chr10 22700068 22700068 A C het . 19 +line22554 nonsynonymous SNV PTF1A:NM_178161:exon2:c.T787C:p.S263P, chr10 23482635 23482635 T C het . 15 +line22579 nonsynonymous SNV ENKUR:NM_145010:exon2:c.T83A:p.I28K, chr10 25288470 25288470 A T het . 18 +line22599 nonframeshift substitution MYO3A:NM_017433:exon12:c.1104_1105TA, chr10 26357747 26357748 CG TA het . 27 +line22604 synonymous SNV MYO3A:NM_017433:exon26:c.C2832A:p.G944G, chr10 26446277 26446277 C A het . 51 +line22605 nonsynonymous SNV MYO3A:NM_017433:exon26:c.G2867A:p.S956N, chr10 26446312 26446312 G A het . 58 +line22622 nonsynonymous SNV ANKRD26:NM_014915:exon26:c.G3841T:p.V1281F,ANKRD26:NM_001256053:exon26:c.G3838T:p.V1280F, chr10 27318252 27318252 C A het . 35 +line22624 nonsynonymous SNV ANKRD26:NM_014915:exon13:c.G1389T:p.M463I,ANKRD26:NM_001256053:exon13:c.G1389T:p.M463I, chr10 27350146 27350146 C A het . 35 +line22651 nonsynonymous SNV MPP7:NM_001318170:exon12:c.A965G:p.K322R,MPP7:NM_173496:exon14:c.A965G:p.K322R, chr10 28378758 28378758 T C het . 10 +line22660 synonymous SNV BAMBI:NM_012342:exon2:c.T315C:p.N105N, chr10 28970425 28970425 T C het . 18 +line22674 nonsynonymous SNV SVIL:NM_021738:exon8:c.G1264A:p.V422I, chr10 29822032 29822032 C T het . 27 +line22675 synonymous SNV SVIL:NM_001323599:exon8:c.T489G:p.A163A,SVIL:NM_021738:exon6:c.T489G:p.A163A,SVIL:NM_003174:exon8:c.T489G:p.A163A,SVIL:NM_001323600:exon8:c.T489G:p.A163A, chr10 29839864 29839864 A C het . 29 +line22676 nonsynonymous SNV SVIL:NM_001323599:exon8:c.T475G:p.S159A,SVIL:NM_021738:exon6:c.T475G:p.S159A,SVIL:NM_003174:exon8:c.T475G:p.S159A,SVIL:NM_001323600:exon8:c.T475G:p.S159A, chr10 29839878 29839878 A C het . 33 +line22690 nonsynonymous SNV MTPAP:NM_018109:exon9:c.C1604T:p.A535V, chr10 30602683 30602683 G A het . 41 +line22716 synonymous SNV ARHGAP12:NM_001270699:exon6:c.G1281A:p.G427G,ARHGAP12:NM_018287:exon10:c.G1437A:p.G479G,ARHGAP12:NM_001270698:exon7:c.G1206A:p.G402G,ARHGAP12:NM_001270696:exon8:c.G1347A:p.G449G,ARHGAP12:NM_001270695:exon9:c.G1422A:p.G474G,ARHGAP12:NM_001270697:exon9:c.G1296A:p.G432G, chr10 32120678 32120678 C T het . 14 +line22717 nonsynonymous SNV ARHGAP12:NM_001270699:exon1:c.G647T:p.G216V,ARHGAP12:NM_018287:exon3:c.G647T:p.G216V,ARHGAP12:NM_001270698:exon3:c.G647T:p.G216V,ARHGAP12:NM_001270696:exon3:c.G647T:p.G216V,ARHGAP12:NM_001270695:exon3:c.G647T:p.G216V,ARHGAP12:NM_001270697:exon3:c.G647T:p.G216V, chr10 32197137 32197137 C A het . 6 +line22732 synonymous SNV ITGB1:NM_133376:exon6:c.T783C:p.C261C,ITGB1:NM_033668:exon5:c.T783C:p.C261C,ITGB1:NM_002211:exon6:c.T783C:p.C261C, chr10 33214802 33214802 A G het . 23 +line22776 nonsynonymous SNV ZNF37A:NM_001324250:exon7:c.G208C:p.E70Q,ZNF37A:NM_001324245:exon6:c.G208C:p.E70Q,ZNF37A:NM_001324248:exon6:c.G208C:p.E70Q,ZNF37A:NM_001324257:exon7:c.G208C:p.E70Q,ZNF37A:NM_001324251:exon7:c.G208C:p.E70Q,ZNF37A:NM_001324262:exon7:c.G208C:p.E70Q,ZNF37A:NM_001324249:exon6:c.G208C:p.E70Q,ZNF37A:NM_001324259:exon7:c.G208C:p.E70Q,ZNF37A:NM_001324253:exon7:c.G208C:p.E70Q,ZNF37A:NM_003421:exon6:c.G208C:p.E70Q,ZNF37A:NM_001324254:exon6:c.G208C:p.E70Q,ZNF37A:NM_001324247:exon7:c.G208C:p.E70Q,ZNF37A:NM_001007094:exon7:c.G208C:p.E70Q,ZNF37A:NM_001178101:exon6:c.G208C:p.E70Q,ZNF37A:NM_001324261:exon6:c.G208C:p.E70Q,ZNF37A:NM_001324256:exon7:c.G208C:p.E70Q,ZNF37A:NM_001324246:exon7:c.G208C:p.E70Q,ZNF37A:NM_001324260:exon6:c.G208C:p.E70Q,ZNF37A:NM_001324258:exon6:c.G208C:p.E70Q,ZNF37A:NM_001324252:exon7:c.G208C:p.E70Q, chr10 38404188 38404188 G C het . 15 +line22916 nonsynonymous SNV BMS1:NM_014753:exon10:c.G1393A:p.A465T, chr10 43292085 43292085 G A het . 22 +line22949 nonsynonymous SNV MARCH8:NM_001282866:exon5:c.G710A:p.G237D, chr10 45958977 45958977 C T het . 16 +line22955 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.G697T:p.A233S, chr10 46999577 46999577 G T het . 8 +line22956 nonframeshift insertion GPRIN2:NM_014696:exon3:c.711_712insATGAGGGAG:p.G237delinsGMRE, chr10 46999591 46999591 - ATGAGGGAG het . 12 +line22957 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.G716A:p.R239K, chr10 46999596 46999596 G A het . 14 +line22958 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.A724G:p.R242G, chr10 46999604 46999604 A G het . 17 +line22959 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.T1124C:p.V375A, chr10 47000004 47000004 T C het . 14 +line22999 synonymous SNV ARHGAP22:NM_021226:exon4:c.C330T:p.A110A,ARHGAP22:NM_001347738:exon5:c.C348T:p.A116A,ARHGAP22:NM_001256024:exon4:c.C330T:p.A110A,ARHGAP22:NM_001256026:exon2:c.C60T:p.A20A,ARHGAP22:NM_001256025:exon4:c.C348T:p.A116A, chr10 49687800 49687800 G A het . 4 +line23009 synonymous SNV PGBD3:NM_170753:exon2:c.C1477T:p.L493L,ERCC6:NM_001277058:exon6:c.C2881T:p.L961L,ERCC6:NM_001277059:exon6:c.C2881T:p.L961L, chr10 50723684 50723684 G A het . 18 +line23010 nonsynonymous SNV PGBD3:NM_170753:exon2:c.G1454T:p.S485I,ERCC6:NM_001277058:exon6:c.G2858T:p.S953I,ERCC6:NM_001277059:exon6:c.G2858T:p.S953I, chr10 50723707 50723707 C A het . 18 +line23012 nonsynonymous SNV SLC18A3:NM_003055:exon1:c.A424G:p.S142G, chr10 50819210 50819210 A G het . 16 +line23018 nonsynonymous SNV PARG:NM_001324381:exon17:c.A2485G:p.I829V,PARG:NM_003631:exon17:c.A2731G:p.I911V,PARG:NM_001303487:exon16:c.A2407G:p.I803V,PARG:NM_001303486:exon17:c.A2485G:p.I829V,PARG:NM_001303489:exon14:c.A1489G:p.I497V, chr10 51028256 51028256 T C het . 15 +line23026 nonsynonymous SNV SGMS1:NM_147156:exon7:c.A227C:p.H76P, chr10 52103648 52103648 T G het . 29 +line23028 nonsynonymous SNV A1CF:NM_001198819:exon11:c.G990A:p.M330I,A1CF:NM_138932:exon9:c.G966A:p.M322I,A1CF:NM_001198820:exon10:c.G990A:p.M330I,A1CF:NM_001198818:exon10:c.G966A:p.M322I,A1CF:NM_138933:exon9:c.G990A:p.M330I,A1CF:NM_014576:exon9:c.G966A:p.M322I, chr10 52575941 52575941 C T het . 18 +line23030 synonymous SNV PRKG1:NM_006258:exon1:c.C252A:p.T84T, chr10 52834602 52834602 C A het . 24 +line23035 synonymous SNV DKK1:NM_012242:exon2:c.A318G:p.A106A, chr10 54074757 54074757 A G het . 4 +line23107 nonsynonymous SNV FAM13C:NM_001347845:exon9:c.A656C:p.K219T,FAM13C:NM_001143773:exon9:c.A656C:p.K219T,FAM13C:NM_001166698:exon9:c.A656C:p.K219T,FAM13C:NM_001347843:exon11:c.A629C:p.K210T,FAM13C:NM_198215:exon8:c.A905C:p.K302T,FAM13C:NM_001347840:exon9:c.A656C:p.K219T,FAM13C:NM_001347852:exon8:c.A905C:p.K302T,FAM13C:NM_001347846:exon9:c.A656C:p.K219T,FAM13C:NM_001347847:exon10:c.A656C:p.K219T,FAM13C:NM_001347849:exon8:c.A905C:p.K302T,FAM13C:NM_001001971:exon8:c.A905C:p.K302T,FAM13C:NM_001347844:exon10:c.A656C:p.K219T,FAM13C:NM_001347850:exon9:c.A629C:p.K210T,FAM13C:NM_001347851:exon9:c.A656C:p.K219T,FAM13C:NM_001347848:exon10:c.A629C:p.K210T,FAM13C:NM_001347842:exon9:c.A656C:p.K219T, chr10 61028350 61028350 T G het . 22 +line23109 nonsynonymous SNV SLC16A9:NM_001323977:exon5:c.G564T:p.Q188H,SLC16A9:NM_001323981:exon6:c.G825T:p.Q275H,SLC16A9:NM_194298:exon5:c.G825T:p.Q275H,SLC16A9:NM_001323979:exon5:c.G564T:p.Q188H,SLC16A9:NM_001323978:exon6:c.G564T:p.Q188H,SLC16A9:NM_001323980:exon5:c.G564T:p.Q188H, chr10 61413959 61413959 C A het . 38 +line23117 nonsynonymous SNV ANK3:NM_020987:exon37:c.G8326A:p.E2776K, chr10 61832313 61832313 C T het . 24 +line23118 nonsynonymous SNV ANK3:NM_020987:exon37:c.G5967T:p.W1989C, chr10 61834672 61834672 C A het . 28 +line23135 synonymous SNV CABCOCO1:NM_173554:exon7:c.C624A:p.A208A, chr10 63525768 63525768 C A het . 25 +line23140 nonsynonymous SNV ZNF365:NM_199450:exon2:c.A523C:p.T175P,ZNF365:NM_014951:exon2:c.A523C:p.T175P,ZNF365:NM_199451:exon2:c.A523C:p.T175P, chr10 64136475 64136475 A C het . 21 +line23191 nonsynonymous SNV LRRTM3:NM_178011:exon2:c.G1376A:p.R459Q, chr10 68688050 68688050 G A het . 20 +line23212 nonsynonymous SNV TET1:NM_030625:exon4:c.A3053G:p.N1018S, chr10 70405539 70405539 A G het . 25 +line23213 nonsynonymous SNV TET1:NM_030625:exon4:c.A3055G:p.K1019E, chr10 70405541 70405541 A G het . 25 +line23218 frameshift deletion CCAR1:NM_001282960:exon9:c.916_917del:p.E306fs,CCAR1:NM_001282959:exon9:c.916_917del:p.E306fs,CCAR1:NM_018237:exon10:c.961_962del:p.E321fs, chr10 70509285 70509286 GA - het . 11 +line23222 nonsynonymous SNV STOX1:NM_152709:exon3:c.C709A:p.P237T,STOX1:NM_001130161:exon3:c.C709A:p.P237T, chr10 70644261 70644261 C A het . 24 +line23227 nonsynonymous SNV DDX21:NM_004728:exon12:c.C1879T:p.R627C,DDX21:NM_001256910:exon12:c.C1675T:p.R559C, chr10 70737421 70737421 C T het . 11 +line23233 synonymous SNV HKDC1:NM_025130:exon12:c.C1803T:p.F601F, chr10 71010375 71010375 C T het . 16 +line23236 nonsynonymous SNV TACR2:NM_001057:exon3:c.T734A:p.M245K, chr10 71168685 71168685 A T het . 4 +line23273 synonymous SNV CDH23:NM_022124:exon38:c.C5100T:p.Y1700Y, chr10 73537978 73537978 C T het . 10 +line23275 nonsynonymous SNV CDH23:NM_022124:exon49:c.C7139T:p.P2380L,CDH23:NM_001171933:exon4:c.C419T:p.P140L,CDH23:NM_001171934:exon4:c.C419T:p.P140L, chr10 73558952 73558952 C T het . 22 +line23276 synonymous SNV CDH23:NM_022124:exon54:c.G8022A:p.Q2674Q,CDH23:NM_001171933:exon9:c.G1302A:p.Q434Q,CDH23:NM_001171934:exon9:c.G1302A:p.Q434Q, chr10 73565712 73565712 G A het . 18 +line23299 nonsynonymous SNV MSS51:NM_001024593:exon2:c.C88T:p.P30S, chr10 75187955 75187955 G A het . 13 +line23304 nonsynonymous SNV ZSWIM8:NM_015037:exon19:c.G3772A:p.G1258R,ZSWIM8:NM_001242488:exon19:c.G3757A:p.G1253R,ZSWIM8:NM_001242487:exon19:c.G3757A:p.G1253R, chr10 75557648 75557648 G A het . 22 +line23307 synonymous SNV CAMK2G:NM_172171:exon2:c.G147A:p.K49K,CAMK2G:NM_172170:exon2:c.G147A:p.K49K,CAMK2G:NM_001204492:exon2:c.G147A:p.K49K,CAMK2G:NM_001222:exon2:c.G147A:p.K49K,CAMK2G:NM_172173:exon2:c.G147A:p.K49K,CAMK2G:NM_001320898:exon2:c.G147A:p.K49K,CAMK2G:NM_172169:exon2:c.G147A:p.K49K, chr10 75632760 75632760 C T het . 23 +line23309 nonsynonymous SNV VCL:NM_014000:exon7:c.C872A:p.P291Q,VCL:NM_003373:exon7:c.C872A:p.P291Q, chr10 75842300 75842300 C A het . 29 +line23327 nonsynonymous SNV KAT6B:NM_001256468:exon18:c.C5545A:p.P1849T,KAT6B:NM_012330:exon18:c.C6094A:p.P2032T,KAT6B:NM_001256469:exon18:c.C5218A:p.P1740T, chr10 76790676 76790676 C A het . 11 +line23334 nonframeshift insertion ZNF503:NM_032772:exon1:c.77_78insAGGCGGAGGCGG:p.G26delinsGGGGG, chr10 77161100 77161100 - CCGCCTCCGCCT het . 16 +line23369 frameshift deletion TMEM254:NM_001270374:exon2:c.46_49del:p.K16fs,TMEM254:NM_001270371:exon2:c.121_124del:p.K41fs, chr10 81841429 81841432 AAAG - het . 21 +line23375 nonsynonymous SNV SH2D4B:NM_207372:exon5:c.C733A:p.Q245K,SH2D4B:NM_001145719:exon5:c.C586A:p.Q196K, chr10 82363424 82363424 C A het . 15 +line23394 synonymous SNV CDHR1:NM_033100:exon17:c.T2439C:p.T813T, chr10 85974236 85974236 T C het . 7 +line23395 nonsynonymous SNV LRIT2:NM_001017924:exon3:c.A1528C:p.T510P,LRIT2:NM_001284223:exon4:c.A1558C:p.T520P, chr10 85981801 85981801 T G het . 4 +line23407 frameshift deletion WAPL:NM_015045:exon9:c.2304delT:p.I768fs,WAPL:NM_001318328:exon9:c.2286delT:p.I762fs, chr10 88227102 88227102 A - het . 29 +line23434 nonsynonymous SNV ACTA2:NM_001141945:exon4:c.A326G:p.E109G,ACTA2:NM_001320855:exon4:c.A326G:p.E109G,ACTA2:NM_001613:exon4:c.A326G:p.E109G, chr10 90703597 90703597 T C het . 15 +line23438 nonsynonymous SNV FAS:NM_152872:exon4:c.A422T:p.E141V,FAS:NM_152871:exon4:c.A422T:p.E141V,FAS:NM_001320619:exon4:c.A422T:p.E141V,FAS:NM_000043:exon4:c.A422T:p.E141V, chr10 90768733 90768733 A T het . 31 +line23449 synonymous SNV IFIT1:NM_001270929:exon3:c.C738A:p.A246A,IFIT1:NM_001270928:exon3:c.C738A:p.A246A,IFIT1:NM_001548:exon2:c.C831A:p.A277A,IFIT1:NM_001270930:exon3:c.C738A:p.A246A,IFIT1:NM_001270927:exon3:c.C831A:p.A277A, chr10 91162863 91162863 C A het . 20 +line23454 nonframeshift insertion KIF20B:NM_016195:exon20:c.3184_3185insTAAAAG:p.L1062delinsLKV,KIF20B:NM_001284259:exon20:c.3304_3305insTAAAAG:p.L1102delinsLKV, chr10 91497902 91497902 - TAAAAG het . 41 +line23455 nonsynonymous SNV KIF20B:NM_016195:exon29:c.C4774T:p.P1592S,KIF20B:NM_001284259:exon29:c.C4894T:p.P1632S, chr10 91522497 91522497 C T het . 29 +line23481 synonymous SNV CPEB3:NM_014912:exon9:c.T1719C:p.Y573Y,CPEB3:NM_001178137:exon9:c.T1677C:p.Y559Y, chr10 93841227 93841227 A G het . 10 +line23536 nonsynonymous SNV PLCE1:NM_001288989:exon2:c.G715A:p.E239K,PLCE1:NM_016341:exon2:c.G715A:p.E239K, chr10 95791518 95791518 G A het . 25 +line23545 synonymous SNV PLCE1:NM_001288989:exon31:c.C6546A:p.T2182T,PLCE1:NM_016341:exon31:c.C6594A:p.T2198T,PLCE1:NM_001165979:exon30:c.C5670A:p.T1890T, chr10 96084198 96084198 C A het . 44 +line23574 nonsynonymous SNV CC2D2B:NM_001349008:exon25:c.G2928A:p.M976I,CC2D2B:NM_001001732:exon2:c.G3A:p.M1I,CC2D2B:NM_001159747:exon3:c.G3A:p.M1I, chr10 97763987 97763987 G A het . 14 +line23578 unknown UNKNOWN chr10 97920278 97920278 T C het . 18 +line23596 stopgain LCOR:NM_001346516:exon8:c.C1079A:p.S360X, chr10 98741296 98741296 C A het . 15 +line23597 nonsynonymous SNV SLIT1:NM_003061:exon18:c.T1807A:p.S603T, chr10 98806457 98806457 A T het . 11 +line23601 nonsynonymous SNV RRP12:NM_015179:exon23:c.T2645C:p.V882A,RRP12:NM_001145114:exon21:c.T2462C:p.V821A,RRP12:NM_001284337:exon20:c.T2345C:p.V782A, chr10 99130256 99130256 A G het . 11 +line23602 synonymous SNV RRP12:NM_015179:exon23:c.A2619C:p.A873A,RRP12:NM_001145114:exon21:c.A2436C:p.A812A,RRP12:NM_001284337:exon20:c.A2319C:p.A773A, chr10 99130282 99130282 T G het . 11 +line23603 synonymous SNV RRP12:NM_015179:exon2:c.T279C:p.G93G,RRP12:NM_001145114:exon2:c.T279C:p.G93G,RRP12:NM_001284337:exon2:c.T279C:p.G93G, chr10 99160152 99160152 A G het . 26 +line23608 synonymous SNV MMS19:NM_001351356:exon14:c.T1293C:p.N431N,MMS19:NM_022362:exon13:c.T1176C:p.N392N,MMS19:NM_001289403:exon12:c.T1047C:p.N349N,MMS19:NM_001289405:exon14:c.T1176C:p.N392N,MMS19:NM_001351357:exon12:c.T702C:p.N234N,MMS19:NM_001351359:exon13:c.T84C:p.N28N,MMS19:NM_001351358:exon12:c.T84C:p.N28N,MMS19:NM_001289404:exon12:c.T702C:p.N234N, chr10 99228051 99228051 A G het . 4 +line23614 synonymous SNV C10orf62:NM_001009997:exon1:c.A474G:p.L158L, chr10 99350128 99350128 A G het . 28 +line23619 nonsynonymous SNV ZFYVE27:NM_001002262:exon2:c.C62T:p.A21V,ZFYVE27:NM_144588:exon2:c.C62T:p.A21V,ZFYVE27:NM_001174120:exon2:c.C62T:p.A21V,ZFYVE27:NM_001002261:exon1:c.C62T:p.A21V,ZFYVE27:NM_001174119:exon2:c.C62T:p.A21V,ZFYVE27:NM_001174122:exon2:c.C62T:p.A21V, chr10 99498296 99498296 C T het . 31 +line23629 nonsynonymous SNV R3HCC1L:NM_001351011:exon6:c.A1118G:p.N373S,R3HCC1L:NM_001256620:exon4:c.A1118G:p.N373S,R3HCC1L:NM_001351014:exon6:c.A1118G:p.N373S,R3HCC1L:NM_001351015:exon5:c.A1118G:p.N373S,R3HCC1L:NM_014472:exon4:c.A1118G:p.N373S,R3HCC1L:NM_001351013:exon3:c.A1118G:p.N373S,R3HCC1L:NM_001351016:exon2:c.A1118G:p.N373S,R3HCC1L:NM_138469:exon5:c.A1118G:p.N373S,R3HCC1L:NM_001351010:exon7:c.A1118G:p.N373S,R3HCC1L:NM_001256619:exon5:c.A1118G:p.N373S,R3HCC1L:NM_001351012:exon4:c.A1118G:p.N373S,R3HCC1L:NM_001351017:exon4:c.A1118G:p.N373S, chr10 99968989 99968989 A G het . 14 +line23644 synonymous SNV NKX2-3:NM_145285:exon2:c.C675A:p.R225R, chr10 101295058 101295058 C A het . 16 +line23645 nonsynonymous SNV NKX2-3:NM_145285:exon2:c.T1073G:p.L358W, chr10 101295456 101295456 T G het . 11 +line23659 nonsynonymous SNV SEC31B:NM_015490:exon11:c.T1406C:p.L469P, chr10 102262015 102262015 A G het . 16 +line23663 synonymous SNV PAX2:NM_000278:exon7:c.A909C:p.P303P,PAX2:NM_003990:exon8:c.A978C:p.P326P,PAX2:NM_003988:exon7:c.A909C:p.P303P,PAX2:NM_001304569:exon8:c.A1002C:p.P334P,PAX2:NM_003987:exon8:c.A978C:p.P326P,PAX2:NM_003989:exon7:c.A909C:p.P303P, chr10 102568983 102568983 A C het . 8 +line23666 nonsynonymous SNV SLF2:NM_001136123:exon5:c.C1704A:p.S568R,SLF2:NM_018121:exon5:c.C1704A:p.S568R, chr10 102684462 102684462 C A het . 26 +line23667 synonymous SNV PDZD7:NM_001195263:exon15:c.T2319C:p.R773R, chr10 102770327 102770327 A G het . 3 +line23679 nonsynonymous SNV PPRC1:NM_001288728:exon5:c.A1034G:p.K345R,PPRC1:NM_015062:exon5:c.A1394G:p.K465R,PPRC1:NM_001288727:exon5:c.A1394G:p.K465R, chr10 103899659 103899659 A G het . 17 +line23680 synonymous SNV PPRC1:NM_001288728:exon13:c.C4383T:p.Y1461Y,PPRC1:NM_015062:exon13:c.C4749T:p.Y1583Y,PPRC1:NM_001288727:exon11:c.C3957T:p.Y1319Y, chr10 103908944 103908944 C T het . 4 +line23684 nonsynonymous SNV PSD:NM_001270965:exon16:c.G2588T:p.R863L,PSD:NM_002779:exon15:c.G2588T:p.R863L,PSD:NM_001270966:exon16:c.G1451T:p.R484L, chr10 104164452 104164452 C A het . 5 +line23694 nonsynonymous SNV CYP17A1:NM_000102:exon3:c.C649G:p.L217V, chr10 104594559 104594559 G C het . 38 +line23695 synonymous SNV CYP17A1:NM_000102:exon3:c.G642T:p.L214L, chr10 104594566 104594566 C A het . 34 +line23696 synonymous SNV CYP17A1:NM_000102:exon1:c.C138T:p.H46H, chr10 104596981 104596981 G A het . 21 +line23699 synonymous SNV NT5C2:NM_001351180:exon18:c.C1074T:p.D358D,NT5C2:NM_001351177:exon19:c.C1074T:p.D358D,NT5C2:NM_001351185:exon19:c.C1074T:p.D358D,NT5C2:NM_001351178:exon21:c.C1074T:p.D358D,NT5C2:NM_001351187:exon22:c.C1074T:p.D358D,NT5C2:NM_012229:exon19:c.C1647T:p.D549D,NT5C2:NM_001351197:exon20:c.C1074T:p.D358D,NT5C2:NM_001351179:exon20:c.C1074T:p.D358D,NT5C2:NM_001351188:exon19:c.C1074T:p.D358D,NT5C2:NM_001351172:exon20:c.C1671T:p.D557D,NT5C2:NM_001351195:exon20:c.C933T:p.D311D,NT5C2:NM_001351194:exon18:c.C933T:p.D311D,NT5C2:NM_001351173:exon19:c.C1671T:p.D557D,NT5C2:NM_001351191:exon17:c.C1074T:p.D358D,NT5C2:NM_001351175:exon20:c.C1554T:p.D518D,NT5C2:NM_001351169:exon19:c.C1647T:p.D549D,NT5C2:NM_001351192:exon18:c.C1074T:p.D358D,NT5C2:NM_001351196:exon21:c.C933T:p.D311D,NT5C2:NM_001351184:exon19:c.C1074T:p.D358D,NT5C2:NM_001134373:exon18:c.C1647T:p.D549D,NT5C2:NM_001351183:exon17:c.C1074T:p.D358D,NT5C2:NM_001351181:exon16:c.C1074T:p.D358D,NT5C2:NM_001351186:exon21:c.C1074T:p.D358D,NT5C2:NM_001351174:exon17:c.C1560T:p.D520D,NT5C2:NM_001351176:exon18:c.C1074T:p.D358D,NT5C2:NM_001351182:exon20:c.C1074T:p.D358D,NT5C2:NM_001351170:exon19:c.C1671T:p.D557D,NT5C2:NM_001351171:exon20:c.C1671T:p.D557D,NT5C2:NM_001351189:exon19:c.C1074T:p.D358D,NT5C2:NM_001351190:exon19:c.C1074T:p.D358D,NT5C2:NM_001351193:exon19:c.C1074T:p.D358D, chr10 104849468 104849468 G A het . 12 +line23723 nonsynonymous SNV SORCS3:NM_014978:exon26:c.G3515A:p.S1172N, chr10 107022160 107022160 G A het . 32 +line23752 nonframeshift substitution DUSP5:NM_004419:exon3:c.658_659AT, chr10 112266822 112266823 GC AT het . 23 +line23762 nonsynonymous SNV RBM20:NM_001134363:exon11:c.C2942A:p.P981H, chr10 112581319 112581319 C A het . 13 +line23782 nonsynonymous SNV NRAP:NM_001261463:exon24:c.C2650T:p.R884C,NRAP:NM_198060:exon24:c.C2650T:p.R884C,NRAP:NM_001322945:exon23:c.C2542T:p.R848C,NRAP:NM_006175:exon23:c.C2545T:p.R849C, chr10 115381747 115381747 G A het . 12 +line23784 synonymous SNV CCDC186:NM_001321829:exon17:c.A2673G:p.L891L,CCDC186:NM_018017:exon16:c.A2673G:p.L891L, chr10 115884926 115884926 T C het . 19 +line23788 nonframeshift insertion AFAP1L2:NM_001287824:exon5:c.330_331insCGG:p.G111delinsRG, chr10 116085784 116085784 - CCG het . 10 +line23799 frameshift insertion ATRNL1:NM_001276282:exon9:c.1399_1400insTT:p.L467fs, chr10 116931101 116931101 - TT het . 1 +line23807 synonymous SNV GFRA1:NM_145793:exon4:c.C537T:p.N179N,GFRA1:NM_001348096:exon5:c.C537T:p.N179N,GFRA1:NM_005264:exon6:c.C552T:p.N184N,GFRA1:NM_001348099:exon2:c.C189T:p.N63N,GFRA1:NM_001145453:exon5:c.C537T:p.N179N,GFRA1:NM_001348098:exon6:c.C552T:p.N184N, chr10 117884950 117884950 G A het . 16 +line23831 synonymous SNV RAB11FIP2:NM_001330167:exon6:c.G1557A:p.P519P,RAB11FIP2:NM_014904:exon5:c.G1497A:p.P499P, chr10 119768551 119768551 C T het . 23 +line23898 nonsynonymous SNV TACC2:NM_001291876:exon4:c.G2879A:p.R960K,TACC2:NM_001291877:exon4:c.G2879A:p.R960K,TACC2:NM_206862:exon4:c.G2879A:p.R960K, chr10 123844894 123844894 G A het . 19 +line23903 nonsynonymous SNV TACC2:NM_001291876:exon8:c.C6233A:p.T2078N,TACC2:NM_006997:exon3:c.C602A:p.T201N,TACC2:NM_206861:exon6:c.C806A:p.T269N,TACC2:NM_001291878:exon3:c.C602A:p.T201N,TACC2:NM_206860:exon3:c.C602A:p.T201N,TACC2:NM_001291877:exon8:c.C6380A:p.T2127N,TACC2:NM_206862:exon9:c.C6368A:p.T2123N, chr10 123970308 123970308 C A het . 20 +line23912 synonymous SNV DMBT1:NM_017579:exon44:c.C5490A:p.I1830I,DMBT1:NM_007329:exon45:c.C5520A:p.I1840I,DMBT1:NM_001320644:exon45:c.C5520A:p.I1840I,DMBT1:NM_004406:exon32:c.C3636A:p.I1212I, chr10 124389888 124389888 C A het . 30 +line23913 nonsynonymous SNV DMBT1:NM_017579:exon50:c.C6342A:p.N2114K,DMBT1:NM_007329:exon51:c.C6372A:p.N2124K,DMBT1:NM_001320644:exon51:c.C6369A:p.N2123K,DMBT1:NM_004406:exon38:c.C4488A:p.N1496K, chr10 124396645 124396645 C A het . 9 +line23918 nonsynonymous SNV CUZD1:NM_022034:exon4:c.T575C:p.I192T, chr10 124596944 124596944 A G het . 17 +line23921 nonsynonymous SNV ACADSB:NM_001609:exon1:c.G38A:p.R13K, chr10 124768583 124768583 G A het . 20 +line23926 nonframeshift deletion HMX2:NM_005519:exon1:c.153_155del:p.51_52del, chr10 124908047 124908049 GGA - het . 11 +line23933 synonymous SNV GPR26:NM_153442:exon1:c.C330T:p.F110F, chr10 125426253 125426253 C T het . 8 +line23942 synonymous SNV OAT:NM_001322965:exon3:c.G273T:p.G91G,OAT:NM_000274:exon3:c.G273T:p.G91G,OAT:NM_001322970:exon5:c.G273T:p.G91G,OAT:NM_001322969:exon4:c.G273T:p.G91G,OAT:NM_001322968:exon5:c.G273T:p.G91G,OAT:NM_001322966:exon4:c.G273T:p.G91G,OAT:NM_001322967:exon4:c.G273T:p.G91G, chr10 126097461 126097461 C A het . 18 +line23943 nonsynonymous SNV NKX1-2:NM_001146340:exon2:c.C466G:p.L156V, chr10 126136465 126136465 G C het . 6 +line23979 nonsynonymous SNV INSYN2:NM_001039762:exon4:c.C683T:p.A228V, chr10 128973977 128973977 G A het . 13 +line23993 nonsynonymous SNV MKI67:NM_001145966:exon12:c.A7631G:p.Q2544R,MKI67:NM_002417:exon13:c.A8711G:p.Q2904R, chr10 129901393 129901393 T C het . 24 +line23994 frameshift deletion MKI67:NM_001145966:exon12:c.6819_6820del:p.H2273fs,MKI67:NM_002417:exon13:c.7899_7900del:p.H2633fs, chr10 129902204 129902205 TG - het . 23 +line23995 nonsynonymous SNV MKI67:NM_001145966:exon12:c.G4547A:p.R1516Q,MKI67:NM_002417:exon13:c.G5627A:p.R1876Q, chr10 129904477 129904477 C T het . 19 +line23996 nonsynonymous SNV MKI67:NM_001145966:exon12:c.G4361T:p.G1454V,MKI67:NM_002417:exon13:c.G5441T:p.G1814V, chr10 129904663 129904663 C A het . 20 +line24012 nonsynonymous SNV GLRX3:NM_006541:exon3:c.C220T:p.P74S,GLRX3:NM_001199868:exon3:c.C220T:p.P74S, chr10 131958277 131958277 C T het . 22 +line24036 nonsynonymous SNV INPP5A:NM_005539:exon3:c.A134G:p.K45R, chr10 134459388 134459388 A G het . 15 +line24037 nonsynonymous SNV INPP5A:NM_005539:exon12:c.A923T:p.E308V,INPP5A:NM_001321042:exon9:c.A731T:p.E244V, chr10 134579296 134579296 A T het . 25 +line24039 nonsynonymous SNV CFAP46:NM_001200049:exon43:c.G6235T:p.A2079S, chr10 134660468 134660468 C A het . 5 +line24041 nonsynonymous SNV CFAP46:NM_001200049:exon20:c.T2591G:p.V864G, chr10 134723481 134723481 A C het . 5 +line24043 synonymous SNV CFAP46:NM_001200049:exon11:c.T1224C:p.A408A, chr10 134738232 134738232 A G het . 3 +line24044 nonsynonymous SNV CFAP46:NM_001200049:exon10:c.A1049T:p.N350I, chr10 134740088 134740088 T A het . 20 +line24053 nonsynonymous SNV ADAM8:NM_001164489:exon2:c.T103C:p.W35R,ADAM8:NM_001109:exon2:c.T103C:p.W35R, chr10 135089035 135089035 A G het . 3 +line24057 synonymous SNV CALY:NM_015722:exon4:c.C294T:p.C98C, chr10 135140448 135140448 G A het . 8 +line24061 nonsynonymous SNV PAOX:NM_207128:exon6:c.C1369G:p.Q457E, chr10 135204950 135204950 C G het . 2 +line24077 nonsynonymous SNV ODF3:NM_001286136:exon6:c.C539A:p.T180N,ODF3:NM_053280:exon7:c.C680A:p.T227N, chr11 199948 199948 C A het . 16 +line24078 nonframeshift deletion RIC8A:NM_021932:exon3:c.621_623del:p.207_208del,RIC8A:NM_001286134:exon3:c.621_623del:p.207_208del, chr11 209895 209897 CCC - het . 17 +line24081 nonsynonymous SNV IFITM2:NM_006435:exon1:c.T98C:p.V33A, chr11 308290 308290 T C het . 14 +line24085 synonymous SNV PKP3:NM_007183:exon3:c.C522A:p.A174A,PKP3:NM_001303029:exon4:c.C567A:p.A189A, chr11 397023 397023 C A het . 12 +line24086 nonsynonymous SNV ANO9:NM_001012302:exon13:c.A1171G:p.I391V,ANO9:NM_001347882:exon12:c.A739G:p.I247V, chr11 428489 428489 T C het . 4 +line24097 nonsynonymous SNV LRRC56:NM_198075:exon9:c.G655A:p.V219M, chr11 551161 551161 G A het . 8 +line24101 synonymous SNV LRRC56:NM_198075:exon14:c.T1356G:p.P452P, chr11 554003 554003 T G het . 15 +line24103 synonymous SNV LMNTD2:NM_173573:exon12:c.T1473G:p.P491P, chr11 555835 555835 A C het . 5 +line24104 synonymous SNV LMNTD2:NM_173573:exon11:c.C1374T:p.G458G, chr11 555999 555999 G A het . 5 +line24107 nonsynonymous SNV CDHR5:NM_021924:exon14:c.G2105C:p.C702S,CDHR5:NM_031264:exon13:c.G1523C:p.C508S,CDHR5:NM_001171968:exon14:c.G2087C:p.C696S, chr11 617967 617967 C G het . 17 +line24110 nonsynonymous SNV DEAF1:NM_021008:exon12:c.C1634G:p.A545G,DEAF1:NM_001293634:exon11:c.C1409G:p.A470G, chr11 644614 644614 G C het . 25 +line24133 nonsynonymous SNV MUC6:NM_005961:exon31:c.G6192C:p.M2064I, chr11 1016609 1016609 C G het . 21 +line24134 synonymous SNV MUC6:NM_005961:exon31:c.C6171T:p.S2057S, chr11 1016630 1016630 G A het . 27 +line24135 nonsynonymous SNV MUC6:NM_005961:exon31:c.C6161T:p.A2054V, chr11 1016640 1016640 G A het . 33 +line24136 nonsynonymous SNV MUC6:NM_005961:exon31:c.C6146T:p.P2049L, chr11 1016655 1016655 G A het . 34 +line24137 nonsynonymous SNV MUC6:NM_005961:exon31:c.C6139T:p.P2047S, chr11 1016662 1016662 G A het . 37 +line24138 nonsynonymous SNV MUC6:NM_005961:exon31:c.G6136A:p.V2046I, chr11 1016665 1016665 C T het . 36 +line24139 synonymous SNV MUC6:NM_005961:exon31:c.C6108G:p.A2036A, chr11 1016693 1016693 G C het . 37 +line24140 nonsynonymous SNV MUC6:NM_005961:exon31:c.G6097T:p.A2033S, chr11 1016704 1016704 C A het . 32 +line24141 nonsynonymous SNV MUC6:NM_005961:exon31:c.A6088G:p.T2030A, chr11 1016713 1016713 T C het . 32 +line24142 nonframeshift substitution MUC6:NM_005961:exon31:c.5931_5932TG, chr11 1016869 1016870 AG CA het . 34 +line24143 nonsynonymous SNV MUC6:NM_005961:exon31:c.C5914T:p.P1972S, chr11 1016887 1016887 G A het . 30 +line24144 nonframeshift substitution MUC6:NM_005961:exon31:c.5911_5912TT, chr11 1016889 1016890 GG AA het . 30 +line24145 nonsynonymous SNV MUC6:NM_005961:exon31:c.C5911T:p.P1971S, chr11 1016890 1016890 G A het . 29 +line24146 synonymous SNV MUC6:NM_005961:exon31:c.C5907T:p.H1969H, chr11 1016894 1016894 G A het . 24 +line24147 synonymous SNV MUC6:NM_005961:exon31:c.C5895A:p.P1965P, chr11 1016906 1016906 G T het . 19 +line24148 synonymous SNV MUC6:NM_005961:exon31:c.C5841A:p.T1947T, chr11 1016960 1016960 G T het . 10 +line24149 synonymous SNV MUC6:NM_005961:exon31:c.A5772C:p.S1924S, chr11 1017029 1017029 T G het . 27 +line24150 nonsynonymous SNV MUC6:NM_005961:exon31:c.C5732T:p.T1911M, chr11 1017069 1017069 G A het . 33 +line24151 nonsynonymous SNV MUC6:NM_005961:exon31:c.C5717T:p.P1906L, chr11 1017084 1017084 G A het . 35 +line24152 synonymous SNV MUC6:NM_005961:exon31:c.G5691A:p.P1897P, chr11 1017110 1017110 C T het . 29 +line24153 nonframeshift substitution MUC6:NM_005961:exon31:c.5688_5689GG, chr11 1017112 1017113 GT CC het . 30 +line24154 synonymous SNV MUC6:NM_005961:exon31:c.A5688G:p.T1896T, chr11 1017113 1017113 T C het . 21 +line24155 synonymous SNV MUC6:NM_005961:exon31:c.C5628T:p.T1876T, chr11 1017173 1017173 G A het . 23 +line24156 nonsynonymous SNV MUC6:NM_005961:exon31:c.C5618A:p.P1873Q, chr11 1017183 1017183 G T het . 26 +line24157 nonsynonymous SNV MUC6:NM_005961:exon31:c.G5438C:p.G1813A, chr11 1017363 1017363 C G het . 20 +line24158 nonsynonymous SNV MUC6:NM_005961:exon31:c.C5417G:p.T1806S, chr11 1017384 1017384 G C het . 19 +line24159 nonsynonymous SNV MUC6:NM_005961:exon31:c.C5380A:p.P1794T, chr11 1017421 1017421 G T het . 11 +line24160 nonsynonymous SNV MUC6:NM_005961:exon31:c.A4685C:p.N1562T, chr11 1018116 1018116 T G het . 12 +line24161 nonsynonymous SNV MUC6:NM_005961:exon31:c.A4506G:p.I1502M, chr11 1018295 1018295 T C het . 12 +line24164 synonymous SNV MUC2:NM_002457:exon31:c.C5331A:p.T1777T, chr11 1093512 1093512 C A het . 8 +line24169 unknown UNKNOWN chr11 1215580 1215580 A G het . 2 +line24170 unknown UNKNOWN chr11 1215832 1215832 C T het . 17 +line24172 nonsynonymous SNV TOLLIP:NM_019009:exon3:c.G215T:p.R72L,TOLLIP:NM_001318514:exon3:c.G8T:p.R3L,TOLLIP:NM_001318512:exon2:c.G65T:p.R22L, chr11 1311608 1311608 C A het . 4 +line24176 nonsynonymous SNV BRSK2:NM_001256630:exon20:c.A2278G:p.T760A,BRSK2:NM_001256627:exon20:c.A2188G:p.T730A, chr11 1481930 1481930 A G het . 6 +line24179 synonymous SNV KRTAP5-5:NM_001001480:exon1:c.C582T:p.C194C, chr11 1651652 1651652 C T het . 14 +line24201 synonymous SNV NUP98:NM_016320:exon21:c.G2766A:p.Q922Q,NUP98:NM_139132:exon21:c.G2766A:p.Q922Q, chr11 3727834 3727834 C T het . 12 +line24216 nonsynonymous SNV RRM1:NM_001318064:exon17:c.C1717A:p.P573T,RRM1:NM_001033:exon18:c.C2008A:p.P670T,RRM1:NM_001330193:exon12:c.C1342A:p.P448T,RRM1:NM_001318065:exon12:c.C994A:p.P332T, chr11 4156318 4156318 C A het . 11 +line24219 stopgain OR52B4:NM_001005161:exon1:c.C73T:p.Q25X, chr11 4389453 4389453 G A het . 17 +line24220 nonsynonymous SNV TRIM21:NM_003141:exon4:c.G538T:p.A180S, chr11 4409727 4409727 C A het . 26 +line24231 nonsynonymous SNV OR51L1:NM_001004755:exon1:c.C843G:p.I281M, chr11 5021055 5021055 C G het . 11 +line24236 synonymous SNV OR51B2:NM_033180:exon1:c.C42T:p.G14G, chr11 5345486 5345486 G A het . 4 +line24237 nonsynonymous SNV OR51B5:NM_001005567:exon5:c.G13A:p.G5S, chr11 5364742 5364742 C T het . 5 +line24242 nonsynonymous SNV OR52D1:NM_001005163:exon1:c.C617T:p.A206V, chr11 5510553 5510553 C T het . 12 +line24243 nonsynonymous SNV OR52H1:NM_001005289:exon1:c.T848C:p.M283T, chr11 5565906 5565906 A G het . 12 +line24250 synonymous SNV TRIM6-TRIM34:NM_001003819:exon8:c.C1047T:p.S349S, chr11 5653546 5653546 C T het . 9 +line24253 stopgain TRIM5:NM_033034:exon6:c.G868T:p.E290X,TRIM5:NM_033093:exon6:c.G868T:p.E290X,TRIM5:NM_033092:exon6:c.G868T:p.E290X, chr11 5687211 5687211 C A het . 11 +line24258 nonsynonymous SNV OR56B1:NM_001005180:exon1:c.T316C:p.C106R, chr11 5758062 5758062 T C het . 21 +line24259 synonymous SNV OR56B1:NM_001005180:exon1:c.C345T:p.F115F, chr11 5758091 5758091 C T het . 27 +line24260 synonymous SNV OR56B1:NM_001005180:exon1:c.A372C:p.L124L, chr11 5758118 5758118 A C het . 30 +line24261 nonsynonymous SNV OR52N1:NM_001001913:exon1:c.T739A:p.F247I, chr11 5809308 5809308 A T het . 6 +line24267 synonymous SNV OR56A3:NM_001003443:exon1:c.C159A:p.I53I, chr11 5968735 5968735 C A het . 24 +line24270 nonsynonymous SNV OR56B4:NM_001005181:exon1:c.C829T:p.P277S, chr11 6129837 6129837 C T het . 22 +line24273 nonsynonymous SNV C11orf42:NM_173525:exon2:c.C724T:p.P242S, chr11 6231731 6231731 C T het . 4 +line24274 nonsynonymous SNV C11orf42:NM_173525:exon2:c.G727A:p.A243T, chr11 6231734 6231734 G A het . 3 +line24275 nonsynonymous SNV FAM160A2:NM_001098794:exon9:c.C1622T:p.A541V,FAM160A2:NM_032127:exon9:c.C1664T:p.A555V, chr11 6239194 6239194 G A het . 12 +line24276 synonymous SNV SMPD1:NM_001007593:exon6:c.C1722T:p.L574L,SMPD1:NM_000543:exon6:c.C1725T:p.L575L,SMPD1:NM_001318088:exon6:c.C804T:p.L268L, chr11 6415666 6415666 C T het . 18 +line24278 nonframeshift insertion DNHD1:NM_144666:exon21:c.5726_5727insTGCCCTACTGCA:p.A1909delinsAALLH, chr11 6567895 6567895 - TGCCCTACTGCA het . 10 +line24279 nonsynonymous SNV DNHD1:NM_144666:exon23:c.C7070A:p.T2357N, chr11 6569604 6569604 C A het . 10 +line24280 nonframeshift deletion DNHD1:NM_144666:exon25:c.8089_8091del:p.2697_2697del, chr11 6578614 6578616 GAG - het . 19 +line24281 nonsynonymous SNV DNHD1:NM_144666:exon42:c.G13456A:p.E4486K, chr11 6592198 6592198 G A het . 4 +line24284 nonsynonymous SNV DCHS1:NM_003737:exon21:c.A9655C:p.K3219Q, chr11 6643252 6643252 T G het . 4 +line24287 nonsynonymous SNV DCHS1:NM_003737:exon2:c.C1245A:p.S415R, chr11 6661600 6661600 G T het . 12 +line24293 synonymous SNV OR2D2:NM_003700:exon1:c.G351T:p.V117V, chr11 6913381 6913381 C A het . 18 +line24296 synonymous SNV ZNF215:NM_001354860:exon5:c.A66T:p.G22G,ZNF215:NM_001354854:exon6:c.A780T:p.G260G,ZNF215:NM_013250:exon7:c.A780T:p.G260G,ZNF215:NM_001354859:exon5:c.A66T:p.G22G,ZNF215:NM_001354855:exon6:c.A102T:p.G34G,ZNF215:NM_001354858:exon5:c.A66T:p.G22G,ZNF215:NM_001354856:exon6:c.A102T:p.G34G,ZNF215:NM_001354857:exon6:c.A102T:p.G34G,ZNF215:NM_001354853:exon7:c.A780T:p.G260G, chr11 6976988 6976988 A T het . 20 +line24298 nonsynonymous SNV NLRP14:NM_176822:exon4:c.C622A:p.Q208K, chr11 7063879 7063879 C A het . 18 +line24314 nonsynonymous SNV OVCH2:NM_198185:exon1:c.G56A:p.R19Q, chr11 7727886 7727886 C T het . 20 +line24315 nonsynonymous SNV OR5P2:NM_153444:exon1:c.G137T:p.R46I, chr11 7818353 7818353 C A het . 33 +line24322 nonsynonymous SNV TRIM66:NM_014818:exon18:c.A3265G:p.I1089V, chr11 8641037 8641037 T C het . 7 +line24325 nonsynonymous SNV TRIM66:NM_014818:exon9:c.A1397G:p.H466R, chr11 8662090 8662090 T C het . 4 +line24326 synonymous SNV ST5:NM_213618:exon14:c.G2574T:p.V858V,ST5:NM_005418:exon17:c.G2574T:p.V858V,ST5:NM_139157:exon13:c.G1314T:p.V438V, chr11 8724265 8724265 C A het . 10 +line24350 nonsynonymous SNV ZNF143:NM_001282657:exon13:c.G1588C:p.E530Q,ZNF143:NM_001282656:exon14:c.G1678C:p.E560Q,ZNF143:NM_003442:exon14:c.G1681C:p.E561Q, chr11 9537904 9537904 G C het . 4 +line24351 nonsynonymous SNV WEE1:NM_003390:exon2:c.G628T:p.G210C, chr11 9597486 9597486 G T het . 26 +line24360 nonsynonymous SNV SBF2:NM_030962:exon26:c.C3292G:p.L1098V, chr11 9861208 9861208 G C het . 38 +line24376 nonsynonymous SNV ZBED5:NM_021211:exon3:c.G1719T:p.W573C,ZBED5:NM_001143667:exon3:c.G1719T:p.W573C, chr11 10874774 10874774 C A het . 20 +line24383 nonsynonymous SNV CSNK2A3:NM_001256686:exon1:c.G193T:p.V65F, chr11 11374474 11374474 C A het . 27 +line24395 nonsynonymous SNV MICALCL:NM_032867:exon9:c.C1927A:p.L643I, chr11 12379865 12379865 C A het . 17 +line24400 stopgain TEAD1:NM_021961:exon11:c.C981A:p.C327X, chr11 12946566 12946566 C A het . 35 +line24407 synonymous SNV ARNTL:NM_001351824:exon8:c.C510T:p.L170L,ARNTL:NM_001351807:exon9:c.C510T:p.L170L,ARNTL:NM_001351822:exon9:c.C381T:p.L127L,ARNTL:NM_001351804:exon10:c.C510T:p.L170L,ARNTL:NM_001030273:exon10:c.C381T:p.L127L,ARNTL:NM_001351813:exon10:c.C381T:p.L127L,ARNTL:NM_001351812:exon11:c.C459T:p.L153L,ARNTL:NM_001178:exon10:c.C510T:p.L170L,ARNTL:NM_001351823:exon11:c.C381T:p.L127L,ARNTL:NM_001351820:exon11:c.C381T:p.L127L,ARNTL:NM_001351808:exon11:c.C381T:p.L127L,ARNTL:NM_001297722:exon9:c.C510T:p.L170L,ARNTL:NM_001351815:exon8:c.C510T:p.L170L,ARNTL:NM_001297724:exon10:c.C381T:p.L127L,ARNTL:NM_001351814:exon10:c.C510T:p.L170L,ARNTL:NM_001351810:exon9:c.C510T:p.L170L,ARNTL:NM_001351809:exon10:c.C459T:p.L153L,ARNTL:NM_001351816:exon10:c.C381T:p.L127L,ARNTL:NM_001030272:exon9:c.C510T:p.L170L,ARNTL:NM_001351819:exon9:c.C510T:p.L170L,ARNTL:NM_001351818:exon11:c.C381T:p.L127L,ARNTL:NM_001351817:exon8:c.C510T:p.L170L,ARNTL:NM_001351805:exon8:c.C471T:p.L157L,ARNTL:NM_001351806:exon8:c.C471T:p.L157L,ARNTL:NM_001351821:exon10:c.C381T:p.L127L,ARNTL:NM_001297719:exon10:c.C510T:p.L170L, chr11 13387097 13387097 C T het . 20 +line24413 unknown UNKNOWN chr11 14101493 14101493 - C het . 23 +line24416 nonsynonymous SNV COPB1:NM_016451:exon18:c.C2320T:p.P774S,COPB1:NM_001144062:exon18:c.C2320T:p.P774S,COPB1:NM_001144061:exon18:c.C2320T:p.P774S, chr11 14486547 14486547 G A het . 17 +line24422 nonsynonymous SNV COPB1:NM_016451:exon4:c.C421T:p.R141C,COPB1:NM_001144062:exon4:c.C421T:p.R141C,COPB1:NM_001144061:exon4:c.C421T:p.R141C, chr11 14515258 14515258 G A het . 25 +line24427 nonsynonymous SNV PDE3B:NM_001363570:exon1:c.C467A:p.A156E,PDE3B:NM_001363569:exon1:c.C467A:p.A156E,PDE3B:NM_000922:exon1:c.C467A:p.A156E, chr11 14666088 14666088 C A het . 15 +line24457 synonymous SNV MRGPRX3:NM_054031:exon3:c.A420G:p.S140S, chr11 18159169 18159169 A G het . 21 +line24469 nonsynonymous SNV TSG101:NM_006292:exon8:c.G669T:p.E223D, chr11 18505591 18505591 C A het . 20 +line24473 synonymous SNV SPTY2D1:NM_194285:exon4:c.C1776T:p.D592D, chr11 18633971 18633971 G A het . 20 +line24476 nonsynonymous SNV IGSF22:NM_173588:exon16:c.C2404T:p.P802S, chr11 18732370 18732370 G A het . 7 +line24479 nonsynonymous SNV IGSF22:NM_173588:exon11:c.G1415A:p.R472Q, chr11 18737095 18737095 C T het . 17 +line24497 synonymous SNV NAV2:NM_182964:exon25:c.C5314A:p.R1772R,NAV2:NM_001244963:exon27:c.C5482A:p.R1828R,NAV2:NM_001111019:exon15:c.C2506A:p.R836R,NAV2:NM_145117:exon25:c.C5314A:p.R1772R,NAV2:NM_001111018:exon25:c.C5122A:p.R1708R, chr11 20101744 20101744 C A het . 3 +line24512 synonymous SNV SLC6A5:NM_004211:exon5:c.C927A:p.G309G,SLC6A5:NM_001318369:exon4:c.C225A:p.G75G, chr11 20629140 20629140 C A het . 18 +line24580 nonsynonymous SNV MUC15:NM_001135091:exon3:c.C401T:p.S134F,MUC15:NM_001135092:exon3:c.C401T:p.S134F,MUC15:NM_145650:exon2:c.C320T:p.S107F, chr11 26587086 26587086 G A het . 9 +line24616 nonsynonymous SNV DCDC1:NM_001350255:exon28:c.G2340T:p.K780N,DCDC1:NM_020869:exon8:c.G804T:p.K268N, chr11 30937228 30937228 C A het . 19 +line24628 nonsynonymous SNV WT1:NM_024424:exon1:c.T205G:p.S69A,WT1:NM_024426:exon1:c.T205G:p.S69A,WT1:NM_000378:exon1:c.T205G:p.S69A, chr11 32456702 32456702 A C het . 13 +line24629 nonsynonymous SNV WT1:NM_024424:exon1:c.G191T:p.R64L,WT1:NM_024426:exon1:c.G191T:p.R64L,WT1:NM_000378:exon1:c.G191T:p.R64L, chr11 32456716 32456716 C A het . 14 +line24631 synonymous SNV EIF3M:NM_006360:exon5:c.C489T:p.T163T,EIF3M:NM_001307929:exon2:c.C93T:p.T31T, chr11 32611143 32611143 C T het . 14 +line24634 nonsynonymous SNV QSER1:NM_001076786:exon10:c.A4766G:p.N1589S, chr11 32990637 32990637 A G het . 18 +line24638 nonsynonymous SNV HIPK3:NM_005734:exon6:c.C1469A:p.A490D,HIPK3:NM_001278162:exon6:c.C1469A:p.A490D,HIPK3:NM_001278163:exon6:c.C1469A:p.A490D,HIPK3:NM_001048200:exon6:c.C1469A:p.A490D, chr11 33360936 33360936 C A het . 18 +line24641 nonsynonymous SNV KIAA1549L:NM_012194:exon20:c.C5426A:p.A1809E, chr11 33689576 33689576 C A het . 24 +line24652 synonymous SNV NAT10:NM_001144030:exon14:c.C1470T:p.P490P,NAT10:NM_024662:exon16:c.C1686T:p.P562P, chr11 34154641 34154641 C T het . 32 +line24658 nonsynonymous SNV CAT:NM_001752:exon10:c.C1243A:p.Q415K, chr11 34485699 34485699 C A het . 33 +line24660 synonymous SNV ELF5:NM_198381:exon2:c.G147A:p.Q49Q,ELF5:NM_001243081:exon2:c.G147A:p.Q49Q,ELF5:NM_001422:exon2:c.G117A:p.Q39Q,ELF5:NM_001243080:exon2:c.G117A:p.Q39Q, chr11 34527180 34527180 C T het . 4 +line24678 nonsynonymous SNV RAG2:NM_001243785:exon3:c.G73T:p.D25Y,RAG2:NM_001243786:exon3:c.G73T:p.D25Y,RAG2:NM_000536:exon2:c.G73T:p.D25Y, chr11 36615646 36615646 C A het . 25 +line24734 nonsynonymous SNV C11orf96:NM_001145033:exon1:c.C59A:p.P20Q, chr11 43964513 43964513 C A het . 12 +line24736 nonsynonymous SNV ACCSL:NM_001363113:exon7:c.C354A:p.F118L,ACCSL:NM_001031854:exon7:c.C897A:p.F299L, chr11 44074567 44074567 C A het . 16 +line24737 nonsynonymous SNV ACCSL:NM_001363113:exon13:c.T1042C:p.C348R,ACCSL:NM_001031854:exon13:c.T1585C:p.C529R, chr11 44080210 44080210 T C het . 8 +line24753 synonymous SNV SYT13:NM_020826:exon1:c.G114T:p.G38G, chr11 45307645 45307645 C A het . 20 +line24758 nonsynonymous SNV CRY2:NM_021117:exon8:c.C1230A:p.S410R,CRY2:NM_001127457:exon8:c.C1047A:p.S349R, chr11 45891639 45891639 C A het . 6 +line24784 nonsynonymous SNV ACP2:NM_001302489:exon5:c.G450C:p.E150D,ACP2:NM_001302490:exon4:c.G438C:p.E146D,ACP2:NM_001610:exon5:c.G534C:p.E178D, chr11 47267040 47267040 C G het . 23 +line24787 nonsynonymous SNV MYBPC3:NM_000256:exon2:c.A148G:p.S50G, chr11 47372934 47372934 T C het . 19 +line24796 nonsynonymous SNV MTCH2:NM_001317233:exon12:c.C424G:p.P142A,MTCH2:NM_014342:exon13:c.C868G:p.P290A,MTCH2:NM_001317232:exon12:c.C841G:p.P281A, chr11 47640429 47640429 G C het . 28 +line24798 nonsynonymous SNV AGBL2:NM_024783:exon16:c.G2235T:p.M745I, chr11 47689228 47689228 C A het . 21 +line24802 nonsynonymous SNV NUP160:NM_015231:exon31:c.G3682T:p.A1228S, chr11 47809798 47809798 C A het . 28 +line24805 nonsynonymous SNV NUP160:NM_015231:exon1:c.T137C:p.V46A,NUP160:NM_001318399:exon1:c.T137C:p.V46A, chr11 47869836 47869836 A G het . 23 +line24808 nonsynonymous SNV PTPRJ:NM_001098503:exon4:c.T369G:p.F123L,PTPRJ:NM_002843:exon4:c.T369G:p.F123L, chr11 48142571 48142571 T G het . 6 +line24819 nonframeshift deletion OR4C3:NM_001004702:exon1:c.169_177del:p.57_59del, chr11 48346661 48346669 TTGCTGATC - het . 37 +line24820 synonymous SNV OR4C3:NM_001004702:exon1:c.G189A:p.T63T, chr11 48346681 48346681 G A het . 34 +line24821 unknown UNKNOWN chr11 48366958 48366958 T G het . 4 +line24822 unknown UNKNOWN chr11 48366971 48366972 GG CA het . 5 +line24823 unknown UNKNOWN chr11 48367455 48367455 G A het . 14 +line24824 unknown UNKNOWN chr11 48367469 48367470 TG CA het . 11 +line24825 unknown UNKNOWN chr11 48367474 48367474 A G het . 9 +line24826 unknown UNKNOWN chr11 48373797 48373797 C T het . 23 +line24827 unknown UNKNOWN chr11 48373805 48373805 G A het . 23 +line24828 unknown UNKNOWN chr11 48373815 48373815 A G het . 23 +line24829 unknown UNKNOWN chr11 48373817 48373817 C T het . 24 +line24830 unknown UNKNOWN chr11 48373827 48373827 G A het . 27 +line24831 unknown UNKNOWN chr11 48373833 48373834 GA AG het . 27 +line24837 nonsynonymous SNV OR4C5:NM_001348223:exon1:c.T832C:p.F278L, chr11 48387186 48387186 A G het . 7 +line24838 synonymous SNV OR4C5:NM_001348223:exon1:c.C717T:p.Y239Y, chr11 48387301 48387301 G A het . 21 +line24839 nonsynonymous SNV OR4C5:NM_001348223:exon1:c.C594A:p.F198L, chr11 48387424 48387424 G T het . 23 +line24840 synonymous SNV OR4C5:NM_001348223:exon1:c.C438A:p.A146A, chr11 48387580 48387580 G T het . 16 +line24841 nonsynonymous SNV OR4C5:NM_001348223:exon1:c.G436A:p.A146T, chr11 48387582 48387582 C T het . 16 +line24842 nonsynonymous SNV OR4C5:NM_001348223:exon1:c.T434A:p.V145E, chr11 48387584 48387584 A T het . 16 +line24843 nonsynonymous SNV OR4C5:NM_001348223:exon1:c.T427C:p.C143R, chr11 48387591 48387591 A G het . 16 +line24844 synonymous SNV OR4C5:NM_001348223:exon1:c.G414A:p.V138V, chr11 48387604 48387604 C T het . 17 +line24902 synonymous SNV OR5W2:NM_001001960:exon1:c.C861T:p.P287P, chr11 55681198 55681198 G A het . 24 +line24905 synonymous SNV OR5F1:NM_003697:exon1:c.A364C:p.R122R, chr11 55761738 55761738 T G het . 6 +line24906 nonsynonymous SNV OR8I2:NM_001003750:exon1:c.T740C:p.V247A, chr11 55861523 55861523 T C het . 17 +line24908 nonsynonymous SNV OR8H2:NM_001005200:exon1:c.C358T:p.H120Y, chr11 55872876 55872876 C T het . 10 +line24911 nonsynonymous SNV OR8J3:NM_001004064:exon1:c.G536T:p.C179F, chr11 55904659 55904659 C A het . 12 +line24915 nonsynonymous SNV OR5R1:NM_001004744:exon1:c.A382G:p.S128G, chr11 56185327 56185327 T C het . 17 +line24916 nonsynonymous SNV OR5R1:NM_001004744:exon1:c.T364C:p.C122R, chr11 56185345 56185345 A G het . 14 +line24917 nonsynonymous SNV OR5R1:NM_001004744:exon1:c.G333T:p.E111D, chr11 56185376 56185376 C A het . 16 +line24922 nonsynonymous SNV OR9G9:NM_001013358:exon1:c.G553A:p.E185K,OR9G1:NM_001005213:exon1:c.G553A:p.E185K, chr11 56468416 56468416 G A het . 23 +line24923 nonsynonymous SNV OR9G9:NM_001013358:exon1:c.G577T:p.G193C,OR9G1:NM_001005213:exon1:c.G577T:p.G193C, chr11 56468440 56468440 G T het . 26 +line24924 nonframeshift substitution OR9G9:NM_001013358:exon1:c.585_586GT,OR9G1:NM_001005213:exon1:c.585_586GT, chr11 56468448 56468449 AA GT het . 30 +line24925 nonsynonymous SNV OR9G9:NM_001013358:exon1:c.A589C:p.M197L,OR9G1:NM_001005213:exon1:c.A589C:p.M197L, chr11 56468452 56468452 A C het . 28 +line24926 synonymous SNV OR9G9:NM_001013358:exon1:c.A630G:p.A210A,OR9G1:NM_001005213:exon1:c.A630G:p.A210A, chr11 56468493 56468493 A G het . 33 +line24938 nonsynonymous SNV PRG3:NM_006093:exon2:c.T7C:p.C3R, chr11 57148175 57148175 A G het . 6 +line24948 synonymous SNV CTNND1:NM_001085465:exon15:c.G2376A:p.S792S,CTNND1:NM_001206883:exon18:c.G2598A:p.S866S,CTNND1:NM_001206889:exon18:c.G2580A:p.S860S,CTNND1:NM_001206890:exon16:c.G2439A:p.S813S,CTNND1:NM_001085458:exon19:c.G2760A:p.S920S,CTNND1:NM_001206887:exon16:c.G2517A:p.S839S,CTNND1:NM_001085459:exon18:c.G2742A:p.S914S,CTNND1:NM_001206886:exon17:c.G2580A:p.S860S,CTNND1:NM_001331:exon17:c.G2679A:p.S893S,CTNND1:NM_001206888:exon17:c.G2580A:p.S860S,CTNND1:NM_001085467:exon16:c.G2439A:p.S813S,CTNND1:NM_001206891:exon18:c.G2580A:p.S860S,CTNND1:NM_001206884:exon18:c.G2598A:p.S866S,CTNND1:NM_001085468:exon16:c.G2439A:p.S813S,CTNND1:NM_001085460:exon18:c.G2742A:p.S914S,CTNND1:NM_001085463:exon17:c.G2457A:p.S819S,CTNND1:NM_001085469:exon15:c.G2439A:p.S813S,CTNND1:NM_001085462:exon17:c.G2742A:p.S914S,CTNND1:NM_001085466:exon17:c.G2457A:p.S819S,CTNND1:NM_001206885:exon19:c.G2760A:p.S920S,CTNND1:NM_001085464:exon16:c.G2439A:p.S813S,CTNND1:NM_001085461:exon18:c.G2742A:p.S914S, chr11 57582924 57582924 G A het . 18 +line24950 nonsynonymous SNV OR9I1:NM_001005211:exon1:c.G637A:p.V213I, chr11 57886280 57886280 C T het . 32 +line24952 nonsynonymous SNV OR9Q1:NM_001005212:exon3:c.G589C:p.V197L, chr11 57947505 57947505 G C het . 22 +line24953 synonymous SNV OR9Q2:NM_001005283:exon1:c.C219T:p.Y73Y, chr11 57958181 57958181 C T het . 22 +line24954 nonsynonymous SNV OR9Q2:NM_001005283:exon1:c.C452A:p.A151D, chr11 57958414 57958414 C A het . 30 +line24955 nonsynonymous SNV OR1S1:NM_001004458:exon1:c.T343A:p.Y115N, chr11 57982559 57982559 T A het . 25 +line24956 nonsynonymous SNV OR1S1:NM_001004458:exon1:c.T368C:p.I123T, chr11 57982584 57982584 T C het . 25 +line24958 nonsynonymous SNV OR5B2:NM_001005566:exon1:c.G124A:p.G42R, chr11 58190611 58190611 C T het . 16 +line24968 synonymous SNV FAM111A:NM_198847:exon4:c.A672G:p.A224A,FAM111A:NM_001142520:exon5:c.A672G:p.A224A,FAM111A:NM_001312910:exon5:c.A672G:p.A224A,FAM111A:NM_001142521:exon5:c.A672G:p.A224A,FAM111A:NM_001312909:exon6:c.A672G:p.A224A,FAM111A:NM_022074:exon4:c.A672G:p.A224A,FAM111A:NM_001142519:exon5:c.A672G:p.A224A,FAM111A:NM_001312911:exon4:c.A672G:p.A224A, chr11 58919813 58919813 A G het . 15 +line24982 frameshift deletion MS4A14:NM_001079692:exon2:c.167_168del:p.I56fs,MS4A14:NM_001261828:exon2:c.167_168del:p.I56fs,MS4A14:NM_001261827:exon2:c.167_168del:p.I56fs,MS4A14:NM_032597:exon2:c.167_168del:p.I56fs, chr11 60165353 60165354 TT - het . 22 +line24985 frameshift deletion MS4A5:NM_023945:exon1:c.97delT:p.F33fs, chr11 60197244 60197244 T - het . 18 +line24987 nonsynonymous SNV MS4A1:NM_021950:exon2:c.A127G:p.S43G,MS4A1:NM_152866:exon3:c.A127G:p.S43G, chr11 60229974 60229974 A G het . 24 +line24991 nonsynonymous SNV MS4A15:NM_001098835:exon3:c.G319A:p.G107S,MS4A15:NM_152717:exon2:c.G40A:p.G14S, chr11 60535099 60535099 G A het . 5 +line24994 synonymous SNV ZP1:NM_207341:exon5:c.A867G:p.V289V, chr11 60638470 60638470 A G het . 3 +line25001 nonsynonymous SNV CD6:NM_001254750:exon10:c.C1573T:p.H525Y,CD6:NM_006725:exon11:c.C1669T:p.H557Y,CD6:NM_001254751:exon10:c.C1546T:p.H516Y, chr11 60785317 60785317 C T het . 19 +line25002 synonymous SNV CD6:NM_001254750:exon10:c.A1608G:p.S536S,CD6:NM_006725:exon11:c.A1704G:p.S568S,CD6:NM_001254751:exon10:c.A1581G:p.S527S, chr11 60785352 60785352 A G het . 33 +line25007 nonsynonymous SNV VPS37C:NM_017966:exon5:c.T593C:p.L198S, chr11 60899767 60899767 A G het . 1 +line25035 nonsynonymous SNV AHNAK:NM_001620:exon5:c.G14660T:p.G4887V,AHNAK:NM_001346445:exon5:c.G14660T:p.G4887V,AHNAK:NM_001346446:exon5:c.G14660T:p.G4887V, chr11 62287229 62287229 C A het . 20 +line25036 stopgain AHNAK:NM_001620:exon5:c.A14656T:p.K4886X,AHNAK:NM_001346445:exon5:c.A14656T:p.K4886X,AHNAK:NM_001346446:exon5:c.A14656T:p.K4886X, chr11 62287233 62287233 T A het . 21 +line25037 nonsynonymous SNV AHNAK:NM_001620:exon5:c.G4408T:p.D1470Y,AHNAK:NM_001346445:exon5:c.G4408T:p.D1470Y,AHNAK:NM_001346446:exon5:c.G4408T:p.D1470Y, chr11 62297481 62297481 C A het . 41 +line25039 nonsynonymous SNV ROM1:NM_000327:exon1:c.G353C:p.G118A, chr11 62381106 62381106 G C het . 8 +line25040 nonsynonymous SNV ROM1:NM_000327:exon2:c.G686A:p.R229H, chr11 62381825 62381825 G A het . 16 +line25056 nonsynonymous SNV SLC22A24:NM_001136506:exon6:c.T1015C:p.S339P, chr11 62863518 62863518 A G het . 23 +line25059 nonsynonymous SNV SLC22A24:NM_001136506:exon1:c.C173G:p.T58S,SLC22A24:NM_173586:exon1:c.C173G:p.T58S, chr11 62911079 62911079 G C het . 5 +line25065 nonsynonymous SNV HRASLS5:NM_001146729:exon1:c.A91G:p.S31G,HRASLS5:NM_001146728:exon1:c.A91G:p.S31G,HRASLS5:NM_054108:exon1:c.A91G:p.S31G, chr11 63258416 63258416 T C het . 4 +line25082 synonymous SNV PLCB3:NM_001316314:exon13:c.C1494T:p.S498S,PLCB3:NM_001184883:exon11:c.C1293T:p.S431S,PLCB3:NM_000932:exon13:c.C1494T:p.S498S, chr11 64026685 64026685 C T het . 2 +line25083 nonsynonymous SNV CCDC88B:NM_032251:exon16:c.A2797G:p.S933G, chr11 64117075 64117075 A G het . 19 +line25088 nonsynonymous SNV NRXN2:NM_015080:exon15:c.G3092A:p.R1031Q,NRXN2:NM_138732:exon13:c.G2972A:p.R991Q, chr11 64417937 64417937 C T het . 19 +line25103 nonsynonymous SNV SAC3D1:NM_013299:exon1:c.C88A:p.H30N, chr11 64808852 64808852 C A het . 16 +line25108 synonymous SNV CAPN1:NM_001198868:exon2:c.G189C:p.P63P,CAPN1:NM_001198869:exon2:c.G189C:p.P63P,CAPN1:NM_005186:exon2:c.G189C:p.P63P, chr11 64950361 64950361 G C het . 15 +line25111 nonsynonymous SNV LTBP3:NM_001130144:exon3:c.A785C:p.H262P,LTBP3:NM_001164266:exon3:c.A434C:p.H145P,LTBP3:NM_021070:exon3:c.A785C:p.H262P, chr11 65321251 65321251 T G het . 10 +line25112 nonframeshift insertion LTBP3:NM_001130144:exon1:c.105_106insCTGCTG:p.G36delinsLLG,LTBP3:NM_021070:exon1:c.105_106insCTGCTG:p.G36delinsLLG, chr11 65325325 65325325 - CAGCAG het . 10 +line25119 unknown UNKNOWN chr11 65713207 65713207 T C het . 13 +line25126 nonsynonymous SNV KLC2:NM_001134775:exon8:c.C979A:p.L327I,KLC2:NM_022822:exon8:c.C979A:p.L327I,KLC2:NM_001134774:exon7:c.C748A:p.L250I,KLC2:NM_001134776:exon8:c.C979A:p.L327I,KLC2:NM_001318734:exon8:c.C979A:p.L327I, chr11 66031553 66031553 C A het . 10 +line25132 unknown UNKNOWN chr11 66329732 66329732 A G het . 12 +line25134 nonsynonymous SNV SPTBN2:NM_006946:exon15:c.G2783A:p.R928H, chr11 66469088 66469088 C T het . 20 +line25135 nonsynonymous SNV SPTBN2:NM_006946:exon3:c.C224T:p.T75M, chr11 66483386 66483386 G A het . 34 +line25136 nonframeshift insertion C11orf80:NM_024650:exon1:c.77_78insGGC:p.G26delinsGA, chr11 66512290 66512290 - GGC het . 3 +line25140 synonymous SNV KDM2A:NM_001256405:exon8:c.A1758G:p.P586P,KDM2A:NM_012308:exon19:c.A3075G:p.P1025P, chr11 67021066 67021066 A G het . 7 +line25143 nonsynonymous SNV ANKRD13D:NM_207354:exon15:c.A1666C:p.T556P,ANKRD13D:NM_001347901:exon16:c.A1405C:p.T469P, chr11 67069651 67069651 A C het . 11 +line25150 nonframeshift substitution NDUFV1:NM_001166102:exon6:c.701_702TT,NDUFV1:NM_007103:exon6:c.728_729TT, chr11 67378493 67378494 CC TT het . 21 +line25171 frameshift deletion IGHMBP2:NM_002180:exon3:c.445_449del:p.K149fs, chr11 68675801 68675807 AAAAAGT - het . 25 +line25172 nonsynonymous SNV IGHMBP2:NM_002180:exon13:c.A2011G:p.T671A, chr11 68703959 68703959 A G het . 12 +line25173 nonframeshift substitution IGHMBP2:NM_002180:exon13:c.2315_2316AT, chr11 68704263 68704264 CC AT het . 20 +line25174 synonymous SNV IGHMBP2:NM_002180:exon13:c.C2316T:p.S772S, chr11 68704264 68704264 C T het . 19 +line25176 synonymous SNV TPCN2:NM_139075:exon4:c.T348C:p.A116A, chr11 68822739 68822739 T C het . 11 +line25179 synonymous SNV TPCN2:NM_139075:exon23:c.A2025G:p.V675V, chr11 68854012 68854012 A G het . 26 +line25181 synonymous SNV MYEOV:NM_001293296:exon2:c.C45T:p.A15A,MYEOV:NM_001300924:exon2:c.C45T:p.A15A,MYEOV:NM_138768:exon3:c.C219T:p.A73A,MYEOV:NM_001293294:exon2:c.C45T:p.A15A,MYEOV:NM_001293291:exon3:c.C219T:p.A73A,MYEOV:NM_001300923:exon3:c.C45T:p.A15A, chr11 69063136 69063136 C T het . 22 +line25186 nonsynonymous SNV FGF3:NM_005247:exon1:c.G52A:p.A18T, chr11 69633650 69633650 C T het . 13 +line25209 nonsynonymous SNV NADSYN1:NM_018161:exon3:c.G220C:p.V74L, chr11 71169547 71169547 G C het . 16 +line25212 nonsynonymous SNV KRTAP5-11:NM_001005405:exon1:c.A324C:p.K108N, chr11 71293560 71293560 T G het . 30 +line25218 synonymous SNV RNF121:NM_018320:exon2:c.A96G:p.Q32Q, chr11 71668305 71668305 A G het . 28 +line25220 nonsynonymous SNV NUMA1:NM_006185:exon20:c.G5171T:p.S1724I,NUMA1:NM_001286561:exon20:c.G5129T:p.S1710I, chr11 71719779 71719779 C A het . 24 +line25240 nonsynonymous SNV ARHGEF17:NM_014786:exon1:c.C979A:p.P327T, chr11 73020662 73020662 C A het . 15 +line25249 nonsynonymous SNV UCP2:NM_003355:exon4:c.C164T:p.A55V, chr11 73689104 73689104 G A het . 5 +line25251 nonsynonymous SNV LOC100287896:NM_001319240:exon2:c.G642T:p.K214N, chr11 74208592 74208592 G T het . 34 +line25255 synonymous SNV POLD3:NM_006591:exon6:c.T426C:p.P142P,POLD3:NM_001363597:exon6:c.T309C:p.P103P, chr11 74329615 74329615 T C het . 11 +line25261 nonsynonymous SNV NEU3:NM_006656:exon3:c.A1066C:p.T356P, chr11 74717217 74717217 A C het . 13 +line25262 nonsynonymous SNV OR2AT4:NM_001005285:exon1:c.G793T:p.V265L, chr11 74799966 74799966 C A het . 12 +line25265 synonymous SNV ARRB1:NM_020251:exon7:c.C444T:p.A148A,ARRB1:NM_004041:exon7:c.C444T:p.A148A, chr11 74992157 74992157 G A het . 16 +line25272 nonsynonymous SNV THAP12:NM_004705:exon3:c.C242T:p.A81V, chr11 76072076 76072076 G A het . 7 +line25273 nonsynonymous SNV THAP12:NM_004705:exon3:c.G233A:p.R78Q, chr11 76072085 76072085 C T het . 8 +line25275 nonsynonymous SNV EMSY:NM_001300943:exon12:c.C1808A:p.T603K,EMSY:NM_001300944:exon13:c.C1850A:p.T617K,EMSY:NM_020193:exon12:c.C1805A:p.T602K,EMSY:NM_001300942:exon13:c.C1850A:p.T617K, chr11 76234319 76234319 C A het . 19 +line25312 nonsynonymous SNV ALG8:NM_001007027:exon7:c.T775G:p.L259V,ALG8:NM_024079:exon7:c.T775G:p.L259V, chr11 77824934 77824934 A C het . 19 +line25313 nonsynonymous SNV ALG8:NM_001007027:exon7:c.T770G:p.L257R,ALG8:NM_024079:exon7:c.T770G:p.L257R, chr11 77824939 77824939 A C het . 22 +line25314 synonymous SNV ALG8:NM_001007027:exon7:c.T762G:p.G254G,ALG8:NM_024079:exon7:c.T762G:p.G254G, chr11 77824947 77824947 A C het . 25 +line25319 nonsynonymous SNV TENM4:NM_001098816:exon19:c.G2559A:p.M853I, chr11 78468047 78468047 C T het . 5 +line25338 synonymous SNV FAM181B:NM_175885:exon1:c.C675A:p.R225R, chr11 82444097 82444097 G T het . 8 +line25340 nonframeshift substitution PCF11:NM_001346413:exon8:c.2923_2924AA,PCF11:NM_001346415:exon8:c.2530_2531AA,PCF11:NM_015885:exon8:c.2530_2531AA,PCF11:NM_001346414:exon8:c.2923_2924AA, chr11 82879907 82879908 GG AA het . 14 +line25346 nonsynonymous SNV DLG2:NM_001351276:exon11:c.A1286T:p.Q429L,DLG2:NM_001206769:exon10:c.A1346T:p.Q449L,DLG2:NM_001300983:exon11:c.A1229T:p.Q410L,DLG2:NM_001142700:exon8:c.A920T:p.Q307L,DLG2:NM_001351274:exon15:c.A1580T:p.Q527L,DLG2:NM_001351275:exon14:c.A1577T:p.Q526L,DLG2:NM_001364:exon11:c.A1229T:p.Q410L,DLG2:NM_001142699:exon16:c.A1544T:p.Q515L, chr11 83585484 83585484 T A het . 19 +line25361 nonsynonymous SNV PICALM:NM_001008660:exon9:c.G890T:p.S297I,PICALM:NM_001206947:exon9:c.G737T:p.S246I,PICALM:NM_007166:exon9:c.G890T:p.S297I,PICALM:NM_001206946:exon9:c.G890T:p.S297I, chr11 85714412 85714412 C A het . 15 +line25374 nonsynonymous SNV RAB38:NM_022337:exon1:c.A124G:p.I42V, chr11 87908429 87908429 T C het . 15 +line25375 synonymous SNV RAB38:NM_022337:exon1:c.T105C:p.S35S, chr11 87908448 87908448 A G het . 18 +line25380 synonymous SNV GRM5:NM_001143831:exon9:c.A3375C:p.G1125G,GRM5:NM_000842:exon9:c.A3279C:p.G1093G, chr11 88242024 88242024 T G het . 14 +line25381 nonsynonymous SNV GRM5:NM_001143831:exon7:c.G2068T:p.A690S,GRM5:NM_000842:exon8:c.G2068T:p.A690S, chr11 88300783 88300783 C A het . 33 +line25382 synonymous SNV TYR:NM_000372:exon1:c.C346A:p.R116R, chr11 88911467 88911467 C A het . 35 +line25388 synonymous SNV NAALAD2:NM_005467:exon2:c.C180A:p.I60I,NAALAD2:NM_001300930:exon2:c.C180A:p.I60I, chr11 89868824 89868824 C A het . 28 +line25413 synonymous SNV FAT3:NM_001008781:exon1:c.C2250A:p.A750A, chr11 92087528 92087528 C A het . 38 +line25416 nonsynonymous SNV FAT3:NM_001008781:exon9:c.C7677A:p.D2559E, chr11 92533856 92533856 C A het . 26 +line25437 synonymous SNV MED17:NM_004268:exon1:c.C195G:p.G65G, chr11 93517874 93517874 C G het . 17 +line25438 nonsynonymous SNV MED17:NM_004268:exon1:c.G207C:p.E69D, chr11 93517886 93517886 G C het . 18 +line25457 nonsynonymous SNV AMOTL1:NM_001301007:exon2:c.G938A:p.R313Q,AMOTL1:NM_130847:exon3:c.G1088A:p.R363Q, chr11 94533444 94533444 G A het . 4 +line25461 nonsynonymous SNV KDM4D:NM_018039:exon3:c.C1286G:p.P429R, chr11 94731822 94731822 C G het . 8 +line25462 unknown UNKNOWN chr11 94800902 94800902 - C het . 19 +line25463 nonsynonymous SNV ENDOD1:NM_015036:exon2:c.C938A:p.S313Y, chr11 94862178 94862178 C A het . 26 +line25479 nonframeshift deletion MAML2:NM_032427:exon2:c.1812_1820del:p.604_607del, chr11 95825375 95825383 TGCTGCTGC - het . 20 +line25541 nonsynonymous SNV MMP8:NM_001304442:exon3:c.G72T:p.Q24H,MMP8:NM_001304441:exon3:c.G72T:p.Q24H,MMP8:NM_002424:exon2:c.G141T:p.Q47H, chr11 102593366 102593366 C A het . 16 +line25543 unknown UNKNOWN chr11 102733838 102733838 C A het . 21 +line25544 unknown UNKNOWN chr11 102738793 102738793 - T het . 14 +line25545 unknown UNKNOWN chr11 102738795 102738795 G T het . 14 +line25554 nonsynonymous SNV DYNC2H1:NM_001080463:exon56:c.G8881A:p.A2961T,DYNC2H1:NM_001377:exon56:c.G8881A:p.A2961T, chr11 103090692 103090692 G A het . 14 +line25574 nonsynonymous SNV CASP5:NM_001136112:exon3:c.A355G:p.T119A,CASP5:NM_004347:exon3:c.A316G:p.T106A,CASP5:NM_001136109:exon2:c.A142G:p.T48A, chr11 104877927 104877927 T C het . 33 +line25575 frameshift deletion CASP5:NM_001136112:exon2:c.67delA:p.R23fs,CASP5:NM_004347:exon2:c.28delA:p.R10fs, chr11 104879687 104879687 T - het . 25 +line25584 synonymous SNV GRIA4:NM_000829:exon14:c.C2259A:p.G753G,GRIA4:NM_001077243:exon14:c.C2259A:p.G753G, chr11 105804660 105804660 C A het . 18 +line25613 nonsynonymous SNV NPAT:NM_002519:exon6:c.A388G:p.T130A,NPAT:NM_001321307:exon6:c.A388G:p.T130A, chr11 108060001 108060001 T C het . 22 +line25621 nonsynonymous SNV DDX10:NM_004398:exon13:c.C1562A:p.T521N, chr11 108593786 108593786 C A het . 26 +line25651 synonymous SNV PPP2R1B:NM_001177563:exon8:c.G957T:p.L319L,PPP2R1B:NM_002716:exon10:c.G1338T:p.L446L,PPP2R1B:NM_181700:exon8:c.G1146T:p.L382L,PPP2R1B:NM_001177562:exon9:c.G1203T:p.L401L,PPP2R1B:NM_181699:exon10:c.G1338T:p.L446L, chr11 111622883 111622883 C A het . 11 +line25653 nonsynonymous SNV C11orf52:NM_080659:exon2:c.C68G:p.T23R, chr11 111795085 111795085 C G het . 17 +line25657 unknown UNKNOWN chr11 111863234 111863234 C A het . 18 +line25660 nonsynonymous SNV SDHD:NM_001276506:exon4:c.A371G:p.Q124R, chr11 111963860 111963860 A G het . 6 +line25675 nonsynonymous SNV NCAM1:NM_181351:exon2:c.T19C:p.F7L,NCAM1:NM_001242608:exon2:c.T19C:p.F7L,NCAM1:NM_001242607:exon2:c.T19C:p.F7L,NCAM1:NM_000615:exon2:c.T19C:p.F7L,NCAM1:NM_001076682:exon2:c.T19C:p.F7L, chr11 112832353 112832353 T C het . 18 +line25676 synonymous SNV NCAM1:NM_181351:exon2:c.T24C:p.I8I,NCAM1:NM_001242608:exon2:c.T24C:p.I8I,NCAM1:NM_001242607:exon2:c.T24C:p.I8I,NCAM1:NM_000615:exon2:c.T24C:p.I8I,NCAM1:NM_001076682:exon2:c.T24C:p.I8I, chr11 112832358 112832358 T C het . 19 +line25679 nonsynonymous SNV TTC12:NM_001318533:exon3:c.A217C:p.M73L,TTC12:NM_001352037:exon2:c.A142C:p.M48L,TTC12:NM_017868:exon3:c.A217C:p.M73L, chr11 113194168 113194168 A C het . 6 +line25683 synonymous SNV DRD2:NM_000795:exon7:c.T939C:p.H313H,DRD2:NM_016574:exon6:c.T852C:p.H284H, chr11 113283477 113283477 A G het . 11 +line25727 nonsynonymous SNV BUD13:NM_032725:exon5:c.C1163G:p.S388C,BUD13:NM_001159736:exon5:c.C761G:p.S254C, chr11 116631542 116631542 G C het . 19 +line25739 frameshift deletion CEP164:NM_001271933:exon4:c.337delA:p.K113fs,CEP164:NM_014956:exon5:c.337delA:p.K113fs, chr11 117222648 117222648 A - het . 19 +line25747 nonframeshift deletion TMPRSS13:NM_001206789:exon2:c.248_262del:p.83_88del,TMPRSS13:NM_001206790:exon2:c.248_262del:p.83_88del,TMPRSS13:NM_001244995:exon2:c.248_262del:p.83_88del,TMPRSS13:NM_001077263:exon2:c.248_262del:p.83_88del, chr11 117789313 117789327 GGGCTGGAGATGCCT - het . 12 +line25757 frameshift deletion CD3G:NM_000073:exon3:c.205delA:p.K69fs, chr11 118220583 118220583 A - het . 27 +line25761 unknown UNKNOWN chr11 118529017 118529017 T G het . 10 +line25762 unknown UNKNOWN chr11 118529044 118529044 - G het . 14 +line25766 synonymous SNV DDX6:NM_001257191:exon4:c.C322T:p.L108L,DDX6:NM_004397:exon4:c.C322T:p.L108L, chr11 118650388 118650388 G A het . 24 +line25770 synonymous SNV BCL9L:NM_182557:exon8:c.T4182C:p.P1394P, chr11 118769442 118769442 A G het . 6 +line25781 synonymous SNV CBL:NM_005188:exon14:c.G2190C:p.T730T, chr11 119168130 119168130 G C het . 39 +line25782 nonsynonymous SNV CBL:NM_005188:exon16:c.C2644A:p.Q882K, chr11 119170414 119170414 C A het . 28 +line25785 nonsynonymous SNV C1QTNF5:NM_015645:exon15:c.T572G:p.L191R,C1QTNF5:NM_001278431:exon3:c.T572G:p.L191R, chr11 119210201 119210201 A C het . 13 +line25786 nonsynonymous SNV C1QTNF5:NM_015645:exon15:c.T568G:p.S190A,C1QTNF5:NM_001278431:exon3:c.T568G:p.S190A, chr11 119210205 119210205 A C het . 14 +line25792 synonymous SNV MFRP:NM_031433:exon6:c.G669T:p.T223T, chr11 119215687 119215687 C A het . 14 +line25800 synonymous SNV TRIM29:NM_001330382:exon4:c.A390C:p.P130P,TRIM29:NM_012101:exon4:c.A1173C:p.P391P, chr11 119996559 119996559 T G het . 2 +line25809 synonymous SNV TECTA:NM_005422:exon2:c.C177A:p.G59G, chr11 120976652 120976652 C A het . 29 +line25814 nonsynonymous SNV SORL1:NM_003105:exon16:c.G2216A:p.G739E, chr11 121421329 121421329 G A het . 15 +line25815 nonsynonymous SNV SORL1:NM_003105:exon21:c.C2941G:p.L981V, chr11 121430258 121430258 C G het . 15 +line25816 nonsynonymous SNV SORL1:NM_003105:exon22:c.C3220G:p.Q1074E, chr11 121437819 121437819 C G het . 4 +line25824 nonsynonymous SNV UBASH3B:NM_032873:exon1:c.G64C:p.V22L, chr11 122526821 122526821 G C het . 13 +line25846 synonymous SNV GRAMD1B:NM_020716:exon10:c.G930A:p.E310E,GRAMD1B:NM_001286563:exon11:c.G951A:p.E317E,GRAMD1B:NM_001330396:exon11:c.G810A:p.E270E,GRAMD1B:NM_001286564:exon10:c.G810A:p.E270E, chr11 123477352 123477352 G A het . 19 +line25847 nonsynonymous SNV GRAMD1B:NM_020716:exon10:c.C941A:p.S314Y,GRAMD1B:NM_001286563:exon11:c.C962A:p.S321Y,GRAMD1B:NM_001330396:exon11:c.C821A:p.S274Y,GRAMD1B:NM_001286564:exon10:c.C821A:p.S274Y, chr11 123477363 123477363 C A het . 22 +line25848 nonsynonymous SNV GRAMD1B:NM_020716:exon11:c.G1090A:p.V364I,GRAMD1B:NM_001286563:exon12:c.G1111A:p.V371I,GRAMD1B:NM_001330396:exon12:c.G970A:p.V324I,GRAMD1B:NM_001286564:exon11:c.G970A:p.V324I, chr11 123479372 123479372 G A het . 12 +line25849 nonsynonymous SNV GRAMD1B:NM_020716:exon19:c.C2065A:p.H689N,GRAMD1B:NM_001286563:exon20:c.C2086A:p.H696N,GRAMD1B:NM_001330396:exon19:c.C1933A:p.H645N,GRAMD1B:NM_001286564:exon19:c.C1945A:p.H649N, chr11 123489870 123489870 C A het . 18 +line25855 nonsynonymous SNV OR8D4:NM_001005197:exon1:c.G359A:p.C120Y, chr11 123777497 123777497 G A het . 15 +line25860 nonsynonymous SNV OR8G2P:NM_001291438:exon1:c.T878C:p.I293T, chr11 124096275 124096275 T C het . 8 +line25861 nonsynonymous SNV OR8G2P:NM_001291438:exon1:c.G880A:p.V294I, chr11 124096277 124096277 G A het . 8 +line25867 synonymous SNV OR8G5:NM_001005198:exon1:c.C759T:p.Y253Y, chr11 124135481 124135481 C T het . 31 +line25872 nonsynonymous SNV HEPACAM:NM_152722:exon5:c.C862T:p.R288C, chr11 124792656 124792656 G A het . 39 +line25878 nonframeshift deletion PKNOX2:NM_022062:exon13:c.1324_1326del:p.442_442del, chr11 125301193 125301195 GAG - het . 14 +line25901 nonsynonymous SNV CDON:NM_001243597:exon8:c.G1264T:p.V422F,CDON:NM_016952:exon8:c.G1264T:p.V422F, chr11 125880524 125880524 C A het . 17 +line25918 nonsynonymous SNV KCNJ1:NM_153764:exon2:c.A884G:p.Y295C,KCNJ1:NM_153767:exon4:c.A884G:p.Y295C,KCNJ1:NM_153765:exon3:c.A935G:p.Y312C,KCNJ1:NM_000220:exon2:c.A941G:p.Y314C,KCNJ1:NM_153766:exon3:c.A884G:p.Y295C, chr11 128709255 128709255 T C het . 26 +line25938 nonframeshift deletion APLP2:NM_001142276:exon5:c.661_666del:p.221_222del,APLP2:NM_001328686:exon5:c.562_567del:p.188_189del,APLP2:NM_001142277:exon5:c.661_666del:p.221_222del,APLP2:NM_001642:exon5:c.661_666del:p.221_222del,APLP2:NM_001243299:exon5:c.691_696del:p.231_232del,APLP2:NM_001328684:exon5:c.661_666del:p.221_222del,APLP2:NM_001328682:exon5:c.661_666del:p.221_222del,APLP2:NM_001328685:exon5:c.661_666del:p.221_222del, chr11 129991653 129991658 GAAGAG - het . 11 +line25939 frameshift insertion ST14:NM_021978:exon5:c.544dupC:p.L181fs, chr11 130059736 130059736 - C het . 12 +line25942 synonymous SNV ST14:NM_021978:exon10:c.C1215T:p.N405N, chr11 130066335 130066335 C T het . 22 +line25950 nonsynonymous SNV ADAMTS8:NM_007037:exon1:c.G234C:p.E78D, chr11 130297948 130297948 C G het . 22 +line25951 synonymous SNV ADAMTS8:NM_007037:exon1:c.A225G:p.L75L, chr11 130297957 130297957 T C het . 20 +line25958 synonymous SNV SNX19:NM_001347921:exon4:c.G1932A:p.P644P,SNX19:NM_001347919:exon4:c.G1932A:p.P644P,SNX19:NM_001347922:exon5:c.G261A:p.P87P,SNX19:NM_001347923:exon4:c.G207A:p.P69P,SNX19:NM_001347920:exon4:c.G1932A:p.P644P,SNX19:NM_001347926:exon4:c.G72A:p.P24P,SNX19:NM_001301089:exon4:c.G72A:p.P24P,SNX19:NM_014758:exon4:c.G1932A:p.P644P, chr11 130780015 130780015 C T het . 9 +line25959 nonsynonymous SNV SNX19:NM_001347921:exon1:c.A1219G:p.S407G,SNX19:NM_001347919:exon1:c.A1219G:p.S407G,SNX19:NM_001347918:exon1:c.A1219G:p.S407G,SNX19:NM_001347920:exon1:c.A1219G:p.S407G,SNX19:NM_014758:exon1:c.A1219G:p.S407G, chr11 130784616 130784616 T C het . 2 +line25976 nonsynonymous SNV VPS26B:NM_052875:exon4:c.C680T:p.T227M, chr11 134113147 134113147 C T het . 15 +line25990 synonymous SNV IQSEC3:NM_015232:exon3:c.G462A:p.E154E,IQSEC3:NM_001170738:exon4:c.G1371A:p.E457E, chr12 247900 247900 G A het . 7 +line25991 nonsynonymous SNV IQSEC3:NM_015232:exon3:c.A485G:p.D162G,IQSEC3:NM_001170738:exon4:c.A1394G:p.D465G, chr12 247923 247923 A G het . 8 +line25993 synonymous SNV IQSEC3:NM_001170738:exon14:c.T3408C:p.G1136G, chr12 284058 284058 T C het . 7 +line25994 nonsynonymous SNV KDM5A:NM_001042603:exon26:c.G4286T:p.S1429I, chr12 404908 404908 C A het . 41 +line26003 nonsynonymous SNV CCDC77:NM_001130147:exon10:c.C1010T:p.S337F,CCDC77:NM_032358:exon11:c.C1106T:p.S369F,CCDC77:NM_001130148:exon9:c.C1010T:p.S337F,CCDC77:NM_001130146:exon10:c.C1010T:p.S337F, chr12 549847 549847 C T het . 27 +line26005 nonsynonymous SNV WNK1:NM_014823:exon3:c.C1082A:p.T361N,WNK1:NM_001184985:exon3:c.C1082A:p.T361N,WNK1:NM_018979:exon3:c.C1082A:p.T361N,WNK1:NM_213655:exon3:c.C1082A:p.T361N, chr12 936357 936357 C A het . 36 +line26009 frameshift deletion WNK1:NM_014823:exon7:c.1739delA:p.E580fs,WNK1:NM_001184985:exon7:c.1739delA:p.E580fs,WNK1:NM_018979:exon7:c.1739delA:p.E580fs,WNK1:NM_213655:exon7:c.1739delA:p.E580fs, chr12 970297 970297 A - het . 19 +line26013 nonsynonymous SNV WNK1:NM_014823:exon17:c.C3944A:p.S1315Y,WNK1:NM_001184985:exon19:c.C5465A:p.S1822Y,WNK1:NM_018979:exon19:c.C4685A:p.S1562Y,WNK1:NM_213655:exon19:c.C5441A:p.S1814Y, chr12 994655 994655 C A het . 18 +line26021 nonframeshift insertion DCP1B:NM_152640:exon7:c.782_783insGCA:p.Q261delinsQQ, chr12 2062323 2062323 - TGC het . 15 +line26033 nonsynonymous SNV FKBP4:NM_002014:exon9:c.C1235A:p.A412D, chr12 2910485 2910485 C A het . 35 +line26047 nonsynonymous SNV PRMT8:NM_001256536:exon10:c.G1123A:p.E375K,PRMT8:NM_019854:exon10:c.G1150A:p.E384K, chr12 3702313 3702313 G A het . 21 +line26066 synonymous SNV FGF6:NM_020996:exon1:c.C189G:p.A63A, chr12 4554548 4554548 G C het . 18 +line26072 nonsynonymous SNV AKAP3:NM_001278309:exon5:c.T371G:p.V124G,AKAP3:NM_006422:exon5:c.T371G:p.V124G, chr12 4737697 4737697 A C het . 18 +line26073 nonsynonymous SNV AKAP3:NM_001278309:exon5:c.G353A:p.G118E,AKAP3:NM_006422:exon5:c.G353A:p.G118E, chr12 4737715 4737715 C T het . 19 +line26078 nonsynonymous SNV KCNA5:NM_002234:exon1:c.A965C:p.D322A, chr12 5154278 5154278 A C het . 14 +line26086 synonymous SNV VWF:NM_000552:exon47:c.A7842T:p.G2614G, chr12 6076697 6076697 T A het . 18 +line26098 nonsynonymous SNV PLEKHG6:NM_018173:exon15:c.C2087A:p.S696Y,PLEKHG6:NM_001144857:exon14:c.C1991A:p.S664Y,PLEKHG6:NM_001144856:exon15:c.C2087A:p.S696Y, chr12 6436836 6436836 C A het . 8 +line26107 synonymous SNV CHD4:NM_001273:exon15:c.C2238T:p.D746D,CHD4:NM_001363606:exon15:c.C2199T:p.D733D,CHD4:NM_001297553:exon14:c.C2217T:p.D739D, chr12 6703700 6703700 G A het . 9 +line26114 nonframeshift deletion ZNF384:NM_133476:exon10:c.1356_1361del:p.452_454del,ZNF384:NM_001039920:exon9:c.1191_1196del:p.397_399del,ZNF384:NM_001135734:exon11:c.1539_1544del:p.513_515del, chr12 6777070 6777075 TGCTGC - het . 18 +line26120 nonframeshift deletion ATN1:NM_001940:exon5:c.1462_1476del:p.488_492del,ATN1:NM_001007026:exon5:c.1462_1476del:p.488_492del, chr12 7045892 7045906 CAGCAGCAGCAGCAG - het . 17 +line26127 nonsynonymous SNV RBP5:NM_001329454:exon5:c.A196T:p.M66L,RBP5:NM_031491:exon3:c.A343T:p.M115L, chr12 7277236 7277236 T A het . 4 +line26134 nonframeshift substitution APOBEC1:NM_005889:exon2:c.190_191AA,APOBEC1:NM_001304566:exon4:c.325_326AA,APOBEC1:NM_001644:exon3:c.325_326AA, chr12 7805150 7805151 CC TT het . 19 +line26156 synonymous SNV CLEC6A:NM_001007033:exon5:c.C375T:p.F125F,CLEC6A:NM_001317999:exon4:c.C285T:p.F95F, chr12 8628726 8628726 C T het . 17 +line26158 synonymous SNV AICDA:NM_020661:exon4:c.C465T:p.H155H,AICDA:NM_001330343:exon4:c.C435T:p.H145H, chr12 8757481 8757481 G A het . 33 +line26169 nonsynonymous SNV A2ML1:NM_001282424:exon19:c.A2296G:p.M766V,A2ML1:NM_144670:exon30:c.A3769G:p.M1257V, chr12 9020489 9020489 A G het . 24 +line26195 frameshift insertion CLECL1:NM_001253750:exon1:c.153_154insACTTA:p.S52fs,CLECL1:NM_172004:exon1:c.153_154insACTTA:p.S52fs,CLECL1:NM_001267701:exon1:c.153_154insACTTA:p.S52fs, chr12 9885707 9885707 - TAAGT het . 32 +line26197 nonsynonymous SNV KLRF1:NM_001291822:exon2:c.G139A:p.V47M,KLRF1:NM_001291823:exon2:c.G139A:p.V47M,KLRF1:NM_016523:exon2:c.G139A:p.V47M, chr12 9984965 9984965 G A het . 28 +line26198 nonframeshift deletion KLRF1:NM_001291822:exon3:c.223_225del:p.75_75del,KLRF1:NM_016523:exon4:c.373_375del:p.125_125del, chr12 9994446 9994448 TGT - het . 20 +line26205 synonymous SNV CLEC12B:NM_001129998:exon2:c.A177G:p.T59T,CLEC12B:NM_205852:exon2:c.A177G:p.T59T, chr12 10165469 10165469 A G het . 17 +line26220 nonsynonymous SNV KLRC3:NM_007333:exon4:c.G464C:p.C155S,KLRC3:NM_002261:exon4:c.G464C:p.C155S, chr12 10570965 10570965 C G het . 10 +line26226 synonymous SNV MAGOHB:NM_018048:exon2:c.C138G:p.V46V, chr12 10763236 10763236 G C het . 21 +line26230 synonymous SNV TAS2R10:NM_023921:exon1:c.G756T:p.V252V, chr12 10978113 10978113 C A het . 37 +line26235 nonsynonymous SNV TAS2R31:NM_176885:exon1:c.T293C:p.L98P, chr12 11183642 11183642 A G het . 32 +line26236 nonsynonymous SNV TAS2R31:NM_176885:exon1:c.G259A:p.V87I, chr12 11183676 11183676 C T het . 45 +line26237 nonsynonymous SNV TAS2R31:NM_176885:exon1:c.G238T:p.V80L, chr12 11183697 11183697 C A het . 37 +line26255 nonsynonymous SNV PRB1:NM_199354:exon4:c.T367G:p.S123A,PRB1:NM_199353:exon4:c.T427G:p.S143A, chr12 11506211 11506211 A C het . 6 +line26256 synonymous SNV PRB1:NM_199354:exon3:c.G144A:p.Q48Q,PRB1:NM_199353:exon3:c.G144A:p.Q48Q, chr12 11506893 11506893 C T het . 8 +line26269 nonsynonymous SNV GPR19:NM_006143:exon4:c.G858T:p.L286F, chr12 12814525 12814525 C A het . 21 +line26270 nonsynonymous SNV APOLD1:NM_030817:exon2:c.T625C:p.C209R,APOLD1:NM_001130415:exon2:c.T718C:p.C240R, chr12 12940464 12940464 T C het . 16 +line26285 nonframeshift deletion PLBD1:NM_024829:exon1:c.74_76del:p.25_26del, chr12 14720555 14720557 GCA - het . 10 +line26286 synonymous SNV PLBD1:NM_024829:exon1:c.A48G:p.P16P, chr12 14720583 14720583 T C het . 11 +line26316 synonymous SNV SLC15A5:NM_001170798:exon8:c.C1563T:p.N521N, chr12 16347308 16347308 G A het . 19 +line26317 nonsynonymous SNV SLC15A5:NM_001170798:exon8:c.C1544A:p.A515E, chr12 16347327 16347327 G T het . 25 +line26323 nonsynonymous SNV LMO3:NM_001243613:exon4:c.G268T:p.A90S, chr12 16747075 16747075 C A het . 18 +line26342 nonsynonymous SNV PLEKHA5:NM_019012:exon11:c.C1610A:p.T537K,PLEKHA5:NM_001143821:exon11:c.C1610A:p.T537K,PLEKHA5:NM_001256787:exon9:c.C1286A:p.T429K,PLEKHA5:NM_001256470:exon12:c.C1628A:p.T543K, chr12 19436528 19436528 C A het . 41 +line26409 synonymous SNV ABCC9:NM_020297:exon30:c.G3729A:p.S1243S,ABCC9:NM_005691:exon30:c.G3729A:p.S1243S, chr12 21971126 21971126 C T het . 41 +line26410 nonsynonymous SNV ABCC9:NM_020297:exon24:c.G2951T:p.R984L,ABCC9:NM_005691:exon24:c.G2951T:p.R984L, chr12 21998682 21998682 C A het . 36 +line26411 synonymous SNV ABCC9:NM_020297:exon21:c.C2523T:p.A841A,ABCC9:NM_005691:exon21:c.C2523T:p.A841A, chr12 22005422 22005422 G A het . 33 +line26427 synonymous SNV SOX5:NM_006940:exon2:c.T165C:p.H55H,SOX5:NM_001330785:exon2:c.T165C:p.H55H,SOX5:NM_001261414:exon6:c.T126C:p.H42H,SOX5:NM_001261415:exon2:c.T135C:p.H45H,SOX5:NM_152989:exon5:c.T126C:p.H42H, chr12 24048832 24048832 A G het . 23 +line26444 nonsynonymous SNV CASC1:NM_001204102:exon17:c.C1778A:p.A593E,CASC1:NM_001352061:exon14:c.C1778A:p.A593E,CASC1:NM_001204101:exon13:c.C1721A:p.A574E,CASC1:NM_001352063:exon14:c.C1598A:p.A533E,CASC1:NM_001352065:exon14:c.C1562A:p.A521E,CASC1:NM_001082973:exon15:c.C1898A:p.A633E,CASC1:NM_018272:exon16:c.C1916A:p.A639E,CASC1:NM_001319978:exon15:c.C1778A:p.A593E,CASC1:NM_001352064:exon13:c.C1580A:p.A527E,CASC1:NM_001352067:exon11:c.C1403A:p.A468E,CASC1:NM_001352066:exon14:c.C1460A:p.A487E, chr12 25261735 25261735 G T het . 10 +line26446 nonframeshift substitution CASC1:NM_001204102:exon10:c.816_817TT,CASC1:NM_001082972:exon9:c.1128_1129TT,CASC1:NM_001352062:exon8:c.936_937TT,CASC1:NM_001319977:exon7:c.600_601TT,CASC1:NM_001352061:exon7:c.816_817TT,CASC1:NM_001204101:exon6:c.759_760TT,CASC1:NM_001352063:exon9:c.954_955TT,CASC1:NM_001352065:exon7:c.600_601TT,CASC1:NM_001082973:exon8:c.936_937TT,CASC1:NM_018272:exon9:c.954_955TT,CASC1:NM_001352068:exon7:c.816_817TT,CASC1:NM_001319978:exon8:c.816_817TT,CASC1:NM_001352064:exon8:c.936_937TT,CASC1:NM_001352067:exon6:c.759_760TT,CASC1:NM_001352066:exon9:c.816_817TT, chr12 25297346 25297347 CC AA het . 16 +line26483 nonsynonymous SNV STK38L:NM_015000:exon2:c.C115A:p.H39N, chr12 27450768 27450768 C A het . 19 +line26525 synonymous SNV TSPAN11:NM_001080509:exon7:c.G633A:p.K211K, chr12 31136016 31136016 G A het . 17 +line26563 nonsynonymous SNV FGD4:NM_139241:exon8:c.G1098C:p.L366F,FGD4:NM_001330373:exon7:c.G819C:p.L273F,FGD4:NM_001304484:exon9:c.G66C:p.L22F,FGD4:NM_001304483:exon9:c.G354C:p.L118F,FGD4:NM_001330374:exon7:c.G819C:p.L273F,FGD4:NM_001304481:exon8:c.G1353C:p.L451F,FGD4:NM_001304480:exon8:c.G1434C:p.L478F, chr12 32760995 32760995 G C het . 34 +line26573 nonsynonymous SNV PKP2:NM_004572:exon11:c.G2204A:p.R735Q,PKP2:NM_001005242:exon10:c.G2072A:p.R691Q, chr12 32955432 32955432 C T het . 42 +line26617 synonymous SNV CPNE8:NM_153634:exon11:c.C789T:p.N263N, chr12 39124094 39124094 G A het . 26 +line26622 synonymous SNV CPNE8:NM_153634:exon1:c.G72C:p.T24T, chr12 39299265 39299265 C G het . 18 +line26634 nonsynonymous SNV LRRK2:NM_198578:exon6:c.C692A:p.S231Y, chr12 40634405 40634405 C A het . 44 +line26636 synonymous SNV LRRK2:NM_198578:exon34:c.C4872A:p.G1624G, chr12 40713834 40713834 C A het . 29 +line26649 nonsynonymous SNV CNTN1:NM_001843:exon2:c.C50A:p.T17N,CNTN1:NM_001256064:exon2:c.C50A:p.T17N,CNTN1:NM_001256063:exon2:c.C50A:p.T17N,CNTN1:NM_175038:exon1:c.C50A:p.T17N, chr12 41302284 41302284 C A het . 25 +line26651 nonsynonymous SNV CNTN1:NM_001843:exon7:c.G512A:p.R171H,CNTN1:NM_001256064:exon7:c.G512A:p.R171H,CNTN1:NM_001256063:exon7:c.G512A:p.R171H,CNTN1:NM_175038:exon5:c.G479A:p.R160H, chr12 41323613 41323613 G A het . 43 +line26658 nonsynonymous SNV PDZRN4:NM_013377:exon8:c.C978A:p.S326R,PDZRN4:NM_001164595:exon10:c.C1752A:p.S584R, chr12 41966333 41966333 C A het . 19 +line26663 synonymous SNV GXYLT1:NM_001099650:exon7:c.C1209T:p.A403A,GXYLT1:NM_173601:exon8:c.C1302T:p.A434A, chr12 42481609 42481609 G A het . 18 +line26664 nonsynonymous SNV GXYLT1:NM_001099650:exon7:c.C1201G:p.R401G,GXYLT1:NM_173601:exon8:c.C1294G:p.R432G, chr12 42481617 42481617 G C het . 17 +line26665 synonymous SNV GXYLT1:NM_001099650:exon7:c.T1191C:p.S397S,GXYLT1:NM_173601:exon8:c.T1284C:p.S428S, chr12 42481627 42481627 A G het . 17 +line26675 synonymous SNV PPHLN1:NM_016488:exon12:c.G1140C:p.P380P,PPHLN1:NM_001364827:exon11:c.G1176C:p.P392P,PPHLN1:NM_001364823:exon12:c.G1089C:p.P363P,PPHLN1:NM_001364826:exon9:c.G855C:p.P285P,PPHLN1:NM_001364825:exon10:c.G993C:p.P331P,PPHLN1:NM_001364831:exon11:c.G1032C:p.P344P,PPHLN1:NM_001143787:exon11:c.G1068C:p.P356P,PPHLN1:NM_001364829:exon10:c.G1011C:p.P337P, chr12 42839882 42839882 G C het . 20 +line26676 nonsynonymous SNV PPHLN1:NM_016488:exon12:c.A1151C:p.Q384P,PPHLN1:NM_001364827:exon11:c.A1187C:p.Q396P,PPHLN1:NM_001364823:exon12:c.A1100C:p.Q367P,PPHLN1:NM_001364826:exon9:c.A866C:p.Q289P,PPHLN1:NM_001364825:exon10:c.A1004C:p.Q335P,PPHLN1:NM_001364831:exon11:c.A1043C:p.Q348P,PPHLN1:NM_001143787:exon11:c.A1079C:p.Q360P,PPHLN1:NM_001364829:exon10:c.A1022C:p.Q341P, chr12 42839893 42839893 A C het . 23 +line26677 nonsynonymous SNV PRICKLE1:NM_001144882:exon8:c.G2167T:p.A723S,PRICKLE1:NM_001144881:exon8:c.G2167T:p.A723S,PRICKLE1:NM_001144883:exon8:c.G2167T:p.A723S,PRICKLE1:NM_153026:exon8:c.G2167T:p.A723S, chr12 42853940 42853940 C A het . 26 +line26678 synonymous SNV PRICKLE1:NM_001144882:exon8:c.T1902C:p.S634S,PRICKLE1:NM_001144881:exon8:c.T1902C:p.S634S,PRICKLE1:NM_001144883:exon8:c.T1902C:p.S634S,PRICKLE1:NM_153026:exon8:c.T1902C:p.S634S, chr12 42854205 42854205 A G het . 22 +line26679 synonymous SNV PRICKLE1:NM_001144882:exon8:c.T1899C:p.F633F,PRICKLE1:NM_001144881:exon8:c.T1899C:p.F633F,PRICKLE1:NM_001144883:exon8:c.T1899C:p.F633F,PRICKLE1:NM_153026:exon8:c.T1899C:p.F633F, chr12 42854208 42854208 A G het . 23 +line26711 nonsynonymous SNV SLC38A1:NM_001278387:exon12:c.G706T:p.V236F,SLC38A1:NM_001278388:exon10:c.G706T:p.V236F,SLC38A1:NM_001077484:exon11:c.G706T:p.V236F,SLC38A1:NM_001278389:exon11:c.G706T:p.V236F,SLC38A1:NM_030674:exon11:c.G706T:p.V236F,SLC38A1:NM_001278390:exon11:c.G706T:p.V236F, chr12 46598200 46598200 C A het . 23 +line26720 stopgain RPAP3:NM_024604:exon13:c.G1312T:p.E438X,RPAP3:NM_001146076:exon12:c.G835T:p.E279X,RPAP3:NM_001146075:exon12:c.G1210T:p.E404X, chr12 48064104 48064104 C A het . 8 +line26729 nonsynonymous SNV COL2A1:NM_001844:exon50:c.G3590T:p.G1197V,COL2A1:NM_033150:exon49:c.G3383T:p.G1128V, chr12 48369753 48369753 C A het . 31 +line26737 nonsynonymous SNV ADCY6:NM_015270:exon14:c.G2189A:p.R730H, chr12 49168279 49168279 C T het . 15 +line26741 synonymous SNV ARF3:NM_001659:exon2:c.C117G:p.L39L, chr12 49334762 49334762 G C het . 2 +line26743 synonymous SNV KMT2D:NM_003482:exon39:c.G10836A:p.Q3612Q, chr12 49427652 49427652 C T het . 10 +line26747 nonsynonymous SNV TROAP:NM_005480:exon12:c.C1273A:p.P425T, chr12 49723748 49723748 C A het . 13 +line26758 synonymous SNV FAM186A:NM_001145475:exon4:c.A6444G:p.T2148T, chr12 50744171 50744171 T C het . 4 +line26766 synonymous SNV DIP2B:NM_173602:exon17:c.T2022G:p.A674A, chr12 51090932 51090932 T G het . 9 +line26773 stopgain SLC11A2:NM_000617:exon3:c.G133T:p.E45X,SLC11A2:NM_001174125:exon3:c.G220T:p.E74X,SLC11A2:NM_001174127:exon3:c.G133T:p.E45X,SLC11A2:NM_001174128:exon3:c.G133T:p.E45X,SLC11A2:NM_001174129:exon3:c.G133T:p.E45X,SLC11A2:NM_001174130:exon2:c.G121T:p.E41X,SLC11A2:NM_001174126:exon3:c.G133T:p.E45X, chr12 51402309 51402309 C A het . 36 +line26779 synonymous SNV SLC11A2:NM_000617:exon2:c.G21A:p.Q7Q,SLC11A2:NM_001174125:exon2:c.G108A:p.Q36Q,SLC11A2:NM_001174127:exon2:c.G21A:p.Q7Q,SLC11A2:NM_001174128:exon2:c.G21A:p.Q7Q,SLC11A2:NM_001174129:exon2:c.G21A:p.Q7Q,SLC11A2:NM_001174126:exon2:c.G21A:p.Q7Q, chr12 51404491 51404491 C T het . 20 +line26789 nonsynonymous SNV GALNT6:NM_007210:exon3:c.G125T:p.W42L, chr12 51773441 51773441 C A het . 33 +line26793 synonymous SNV SLC4A8:NM_001039960:exon18:c.G2448A:p.K816K,SLC4A8:NM_001258401:exon18:c.G2289A:p.K763K, chr12 51882644 51882644 G A het . 6 +line26798 nonsynonymous SNV SCN8A:NM_001177984:exon16:c.C2683A:p.Q895K,SCN8A:NM_001330260:exon16:c.C2683A:p.Q895K,SCN8A:NM_014191:exon16:c.C2683A:p.Q895K, chr12 52159593 52159593 C A het . 20 +line26802 synonymous SNV KRT80:NM_001081492:exon9:c.C1254A:p.P418P, chr12 52565322 52565322 G T het . 3 +line26803 nonsynonymous SNV KRT80:NM_182507:exon1:c.G101T:p.C34F,KRT80:NM_001081492:exon1:c.G101T:p.C34F, chr12 52585586 52585586 C A het . 9 +line26808 synonymous SNV KRT85:NM_002283:exon2:c.G450T:p.L150L, chr12 52758925 52758925 C A het . 38 +line26811 nonsynonymous SNV KRT5:NM_000424:exon6:c.G1172T:p.R391L, chr12 52910937 52910937 C A het . 36 +line26813 nonframeshift deletion KRT1:NM_006121:exon9:c.1669_1689del:p.557_563del, chr12 53069223 53069243 ACCTCCGGAGCCGTAGCTGCT - het . 30 +line26815 synonymous SNV KRT77:NM_175078:exon2:c.G573T:p.V191V, chr12 53091651 53091651 C A het . 26 +line26819 nonsynonymous SNV KRT76:NM_015848:exon9:c.C1886T:p.T629M, chr12 53162528 53162528 G A het . 7 +line26820 nonsynonymous SNV KRT76:NM_015848:exon9:c.G1850T:p.G617V, chr12 53162564 53162564 C A het . 10 +line26821 synonymous SNV KRT76:NM_015848:exon9:c.T1641C:p.S547S, chr12 53162773 53162773 A G het . 11 +line26824 nonsynonymous SNV KRT4:NM_002272:exon1:c.C215T:p.A72V, chr12 53207628 53207628 G A het . 21 +line26825 synonymous SNV KRT79:NM_175834:exon1:c.G255T:p.L85L, chr12 53227790 53227790 C A het . 7 +line26831 nonsynonymous SNV SOAT2:NM_003578:exon7:c.C761T:p.T254I, chr12 53509933 53509933 C T het . 7 +line26836 synonymous SNV ESPL1:NM_012291:exon19:c.C4464T:p.I1488I, chr12 53682043 53682043 C T het . 7 +line26839 nonframeshift substitution C12orf10:NM_021640:exon1:c.11_12GC, chr12 53693532 53693533 AA GC het . 4 +line26855 nonsynonymous SNV HOXC11:NM_014212:exon2:c.G800A:p.R267Q, chr12 54369082 54369082 G A het . 30 +line26869 synonymous SNV MUCL1:NM_058173:exon3:c.A159G:p.A53A, chr12 55250612 55250612 A G het . 26 +line26881 nonsynonymous SNV OR6C70:NM_001005499:exon1:c.T542C:p.L181P, chr12 55863381 55863381 A G het . 29 +line26882 synonymous SNV OR6C70:NM_001005499:exon1:c.C525T:p.F175F, chr12 55863398 55863398 G A het . 31 +line26883 nonsynonymous SNV OR2AP1:NM_001258285:exon1:c.G751A:p.G251R, chr12 55968949 55968949 G A het . 26 +line26888 synonymous SNV PMEL:NM_006928:exon7:c.C741T:p.P247P,PMEL:NM_001200054:exon6:c.C741T:p.P247P,PMEL:NM_001320122:exon6:c.C741T:p.P247P,PMEL:NM_001200053:exon4:c.C483T:p.P161P,PMEL:NM_001320121:exon6:c.C741T:p.P247P, chr12 56351346 56351346 G A het . 11 +line26890 nonsynonymous SNV ERBB3:NM_001005915:exon2:c.C89T:p.P30L,ERBB3:NM_001982:exon2:c.C89T:p.P30L, chr12 56477541 56477541 C T het . 15 +line26897 synonymous SNV ERBB3:NM_001982:exon27:c.G3348A:p.R1116R, chr12 56494991 56494991 G A het . 27 +line26908 nonsynonymous SNV NACA:NM_001113203:exon3:c.T1214C:p.F405S, chr12 57114100 57114100 A G het . 23 +line26914 nonsynonymous SNV LRP1:NM_002332:exon41:c.C6652A:p.R2218S, chr12 57579502 57579502 C A het . 9 +line26930 nonsynonymous SNV KIF5A:NM_004984:exon14:c.A1394G:p.K465R,KIF5A:NM_001354705:exon11:c.A1127G:p.K376R, chr12 57965875 57965875 A G het . 35 +line26931 synonymous SNV ARHGEF25:NM_182947:exon12:c.A1176G:p.E392E,ARHGEF25:NM_001347933:exon11:c.A1086G:p.E362E,ARHGEF25:NM_001111270:exon13:c.A1293G:p.E431E, chr12 58009432 58009432 A G het . 30 +line26937 stopgain TSFM:NM_005726:exon6:c.C856T:p.Q286X,TSFM:NM_001172696:exon7:c.C919T:p.Q307X, chr12 58190244 58190244 C T het . 7 +line26966 synonymous SNV USP15:NM_001252078:exon11:c.A1455G:p.P485P,USP15:NM_001351165:exon13:c.A456G:p.P152P,USP15:NM_001351166:exon12:c.A456G:p.P152P,USP15:NM_001351159:exon12:c.A1092G:p.P364P,USP15:NM_001351160:exon9:c.A708G:p.P236P,USP15:NM_006313:exon10:c.A1368G:p.P456P,USP15:NM_001351163:exon11:c.A456G:p.P152P,USP15:NM_001351164:exon11:c.A456G:p.P152P, chr12 62778065 62778065 A G het . 15 +line26973 nonsynonymous SNV PPM1H:NM_020700:exon3:c.C731G:p.A244G, chr12 63195621 63195621 G C het . 11 +line26976 nonsynonymous SNV AVPR1A:NM_000706:exon1:c.C924A:p.F308L, chr12 63543693 63543693 G T het . 11 +line26980 nonsynonymous SNV DPY19L2:NM_173812:exon1:c.C122T:p.A41V, chr12 64062052 64062052 G A het . 31 +line26981 nonsynonymous SNV DPY19L2:NM_173812:exon1:c.A109G:p.M37V, chr12 64062065 64062065 T C het . 29 +line26982 nonsynonymous SNV SRGAP1:NM_020762:exon7:c.A899T:p.D300V,SRGAP1:NM_001346201:exon7:c.A899T:p.D300V, chr12 64456794 64456794 A T het . 27 +line26983 nonsynonymous SNV C12orf66:NM_001300941:exon3:c.G1168T:p.A390S,C12orf66:NM_152440:exon3:c.G1327T:p.A443S,C12orf66:NM_001300940:exon3:c.G1327T:p.A443S, chr12 64587633 64587633 C A het . 15 +line27001 frameshift deletion WIF1:NM_007191:exon10:c.1094delA:p.K365fs, chr12 65445175 65445175 T - het . 6 +line27015 nonsynonymous SNV HELB:NM_033647:exon12:c.C2939T:p.T980I, chr12 66725202 66725202 C T het . 26 +line27016 synonymous SNV HELB:NM_033647:exon12:c.C2967A:p.V989V, chr12 66725230 66725230 C A het . 25 +line27036 nonsynonymous SNV MDM2:NM_001145339:exon9:c.C1222A:p.H408N,MDM2:NM_002392:exon11:c.C1387A:p.H463N,MDM2:NM_001145337:exon11:c.C1228A:p.H410N,MDM2:NM_001278462:exon6:c.C859A:p.H287N,MDM2:NM_001145340:exon5:c.C781A:p.H261N, chr12 69233522 69233522 C A het . 18 +line27038 synonymous SNV CPSF6:NM_007007:exon3:c.G354A:p.R118R,CPSF6:NM_001300947:exon3:c.G354A:p.R118R, chr12 69646914 69646914 G A het . 21 +line27049 nonsynonymous SNV PTPRB:NM_001330204:exon16:c.C4072T:p.R1358W,PTPRB:NM_002837:exon15:c.C3682T:p.R1228W,PTPRB:NM_001109754:exon17:c.C4336T:p.R1446W,PTPRB:NM_001206972:exon14:c.C3412T:p.R1138W,PTPRB:NM_001206971:exon14:c.C3412T:p.R1138W, chr12 70954547 70954547 G A het . 43 +line27053 nonsynonymous SNV PTPRR:NM_001207015:exon2:c.C127T:p.R43C,PTPRR:NM_002849:exon3:c.C463T:p.R155C, chr12 71158453 71158453 G A het . 19 +line27064 nonsynonymous SNV ZFC3H1:NM_144982:exon1:c.A98G:p.N33S, chr12 72057293 72057293 T C het . 29 +line27067 synonymous SNV TBC1D15:NM_001146214:exon13:c.A1335G:p.Q445Q,TBC1D15:NM_001146213:exon12:c.A1311G:p.Q437Q,TBC1D15:NM_022771:exon13:c.A1362G:p.Q454Q, chr12 72307616 72307616 A G het . 11 +line27084 nonsynonymous SNV CAPS2:NM_001355027:exon14:c.G1159T:p.A387S,CAPS2:NM_001286548:exon15:c.G721T:p.A241S,CAPS2:NM_001355032:exon13:c.G721T:p.A241S,CAPS2:NM_001355033:exon12:c.G721T:p.A241S,CAPS2:NM_001355023:exon15:c.G1285T:p.A429S,CAPS2:NM_001355025:exon15:c.G1159T:p.A387S,CAPS2:NM_032606:exon15:c.G1417T:p.A473S,CAPS2:NM_001355030:exon11:c.G721T:p.A241S,CAPS2:NM_001355031:exon12:c.G721T:p.A241S,CAPS2:NM_001355024:exon14:c.G1267T:p.A423S,CAPS2:NM_001355026:exon10:c.G1006T:p.A336S,CAPS2:NM_001286547:exon13:c.G1171T:p.A391S, chr12 75683436 75683436 C A het . 17 +line27086 synonymous SNV GLIPR1L2:NM_001270396:exon6:c.G987A:p.E329E, chr12 75824893 75824893 G A het . 27 +line27095 nonframeshift deletion PHLDA1:NM_007350:exon1:c.582_584del:p.194_195del, chr12 76424938 76424940 TGC - het . 34 +line27096 synonymous SNV NAP1L1:NM_004537:exon7:c.A471G:p.K157K,NAP1L1:NM_001307924:exon7:c.A471G:p.K157K,NAP1L1:NM_001330231:exon7:c.A471G:p.K157K,NAP1L1:NM_139207:exon7:c.A471G:p.K157K,NAP1L1:NM_001330232:exon5:c.A282G:p.K94K, chr12 76449900 76449900 T C het . 22 +line27097 nonsynonymous SNV NAP1L1:NM_004537:exon7:c.A440G:p.K147R,NAP1L1:NM_001307924:exon7:c.A440G:p.K147R,NAP1L1:NM_001330231:exon7:c.A440G:p.K147R,NAP1L1:NM_139207:exon7:c.A440G:p.K147R,NAP1L1:NM_001330232:exon5:c.A251G:p.K84R, chr12 76449931 76449931 T C het . 25 +line27150 nonsynonymous SNV METTL25:NM_001347934:exon2:c.A62G:p.H21R, chr12 82763298 82763298 A G het . 5 +line27151 synonymous SNV METTL25:NM_001319675:exon2:c.T27C:p.C9C,METTL25:NM_001347934:exon3:c.T132C:p.C44C,METTL25:NM_032230:exon2:c.T288C:p.C96C, chr12 82780610 82780610 T C het . 15 +line27152 nonsynonymous SNV METTL25:NM_001319675:exon4:c.C484A:p.Q162K,METTL25:NM_001347934:exon5:c.C589A:p.Q197K,METTL25:NM_032230:exon4:c.C745A:p.Q249K, chr12 82792787 82792787 C A het . 36 +line27194 stopgain CEP290:NM_025114:exon31:c.G3928T:p.E1310X, chr12 88482910 88482910 C A het . 15 +line27208 nonsynonymous SNV ATP2B1:NM_001001323:exon19:c.G3308T:p.G1103V,ATP2B1:NM_001682:exon19:c.G3308T:p.G1103V, chr12 89992937 89992937 C A het . 20 +line27210 nonsynonymous SNV ATP2B1:NM_001001323:exon10:c.G1781T:p.G594V,ATP2B1:NM_001682:exon10:c.G1781T:p.G594V, chr12 90013824 90013824 C A het . 20 +line27220 nonsynonymous SNV KERA:NM_007035:exon2:c.C608T:p.A203V, chr12 91449451 91449451 G A het . 33 +line27221 nonsynonymous SNV LUM:NM_002345:exon2:c.G53T:p.G18V, chr12 91502704 91502704 C A het . 17 +line27251 nonsynonymous SNV PLXNC1:NM_005761:exon17:c.T3011G:p.L1004W, chr12 94648996 94648996 T G het . 31 +line27254 synonymous SNV CEP83:NM_001346457:exon4:c.T328C:p.L110L,CEP83:NM_001346462:exon4:c.T16C:p.L6L,CEP83:NM_001346459:exon4:c.T16C:p.L6L,CEP83:NM_001346461:exon4:c.T328C:p.L110L,CEP83:NM_001346458:exon5:c.T16C:p.L6L,CEP83:NM_001346460:exon5:c.T328C:p.L110L,CEP83:NM_016122:exon5:c.T328C:p.L110L,CEP83:NM_001042399:exon4:c.T328C:p.L110L, chr12 94797035 94797035 A G het . 18 +line27257 synonymous SNV TMCC3:NM_020698:exon2:c.C594T:p.F198F,TMCC3:NM_001301036:exon2:c.C501T:p.F167F, chr12 94975799 94975799 G A het . 6 +line27272 nonsynonymous SNV FGD6:NM_018351:exon2:c.G2255T:p.R752L, chr12 95602805 95602805 C A het . 35 +line27273 synonymous SNV FGD6:NM_018351:exon2:c.A1695G:p.P565P, chr12 95603365 95603365 T C het . 20 +line27292 nonsynonymous SNV CFAP54:NM_001306084:exon11:c.A1672G:p.T558A, chr12 96927972 96927972 A G het . 5 +line27313 nonsynonymous SNV UHRF1BP1L:NM_015054:exon18:c.A3821G:p.K1274R, chr12 100441872 100441872 T C het . 38 +line27314 nonsynonymous SNV UHRF1BP1L:NM_015054:exon16:c.C3440T:p.S1147L, chr12 100444984 100444984 G A het . 9 +line27326 nonframeshift substitution UTP20:NM_014503:exon42:c.5530_5531TT, chr12 101750467 101750468 CC TT het . 10 +line27332 nonsynonymous SNV MYBPC1:NM_001254721:exon13:c.C1279A:p.L427I,MYBPC1:NM_001254723:exon13:c.C1297A:p.L433I,MYBPC1:NM_001254718:exon14:c.C1336A:p.L446I,MYBPC1:NM_206819:exon16:c.C1411A:p.L471I,MYBPC1:NM_001254720:exon13:c.C1300A:p.L434I,MYBPC1:NM_206820:exon14:c.C1336A:p.L446I,MYBPC1:NM_001254719:exon14:c.C1336A:p.L446I,MYBPC1:NM_002465:exon16:c.C1411A:p.L471I,MYBPC1:NM_206821:exon14:c.C1336A:p.L446I,MYBPC1:NM_001254722:exon12:c.C1258A:p.L420I, chr12 102045056 102045056 C A het . 31 +line27339 nonsynonymous SNV GNPTAB:NM_024312:exon13:c.G2531T:p.S844I, chr12 102158164 102158164 C A het . 27 +line27353 nonframeshift deletion ASCL1:NM_004316:exon1:c.150_152del:p.50_51del, chr12 103352172 103352174 GCA - het . 9 +line27364 synonymous SNV NT5DC3:NM_001031701:exon9:c.C1015A:p.R339R, chr12 104186946 104186946 G T het . 10 +line27368 nonsynonymous SNV HSP90B1:NM_003299:exon7:c.C962T:p.P321L, chr12 104332224 104332224 C T het . 17 +line27389 nonsynonymous SNV WASHC4:NM_015275:exon26:c.G2701A:p.V901I,WASHC4:NM_001293640:exon26:c.G2704A:p.V902I, chr12 105546172 105546172 G A het . 26 +line27392 nonsynonymous SNV WASHC4:NM_015275:exon33:c.A3463G:p.K1155E,WASHC4:NM_001293640:exon33:c.A3466G:p.K1156E, chr12 105560650 105560650 A G het . 44 +line27393 synonymous SNV APPL2:NM_018171:exon7:c.T468C:p.N156N,APPL2:NM_001251905:exon7:c.T339C:p.N113N,APPL2:NM_001251904:exon7:c.T486C:p.N162N, chr12 105601755 105601755 A G het . 25 +line27409 nonsynonymous SNV POLR3B:NM_018082:exon26:c.C3042A:p.H1014Q,POLR3B:NM_001160708:exon26:c.C2868A:p.H956Q, chr12 106895158 106895158 C A het . 21 +line27422 nonsynonymous SNV BTBD11:NM_001018072:exon1:c.G979A:p.A327T,BTBD11:NM_001347943:exon1:c.G979A:p.A327T, chr12 107713696 107713696 G A het . 8 +line27435 nonframeshift substitution ISCU:NM_001301141:exon1:c.19_20GG,ISCU:NM_213595:exon1:c.19_20GG,ISCU:NM_001301140:exon1:c.19_20GG,ISCU:NM_001320042:exon1:c.19_20GG, chr12 108956417 108956418 TT GG het . 9 +line27436 nonsynonymous SNV ISCU:NM_001301141:exon1:c.C35T:p.A12V,ISCU:NM_213595:exon1:c.C35T:p.A12V,ISCU:NM_001301140:exon1:c.C35T:p.A12V,ISCU:NM_001320042:exon1:c.C35T:p.A12V, chr12 108956433 108956433 C T het . 8 +line27438 synonymous SNV SSH1:NM_018984:exon15:c.A2865G:p.T955T, chr12 109182049 109182049 T C het . 2 +line27446 nonsynonymous SNV ACACB:NM_001093:exon9:c.C1621A:p.L541M, chr12 109617076 109617076 C A het . 20 +line27448 frameshift deletion ACACB:NM_001093:exon25:c.3679_3695del:p.I1227fs, chr12 109660587 109660620 CATCCCTCCCCCTGCAGATCCTGATTGCCTCCCA - het . 13 +line27456 nonsynonymous SNV MYO1H:NM_001101421:exon24:c.C2461T:p.R821C, chr12 109878603 109878603 C T het . 10 +line27471 nonsynonymous SNV FAM222A:NM_032829:exon3:c.G511A:p.G171S, chr12 110206245 110206245 G A het . 10 +line27474 synonymous SNV GIT2:NM_139201:exon4:c.G369A:p.R123R,GIT2:NM_014776:exon4:c.G369A:p.R123R,GIT2:NM_001330153:exon4:c.G369A:p.R123R,GIT2:NM_001135214:exon4:c.G369A:p.R123R,GIT2:NM_001135213:exon4:c.G369A:p.R123R,GIT2:NM_057169:exon4:c.G369A:p.R123R,GIT2:NM_057170:exon4:c.G369A:p.R123R,GIT2:NM_001330154:exon4:c.G369A:p.R123R, chr12 110426804 110426804 C T het . 27 +line27486 nonsynonymous SNV VPS29:NM_001282151:exon2:c.G161T:p.G54V,VPS29:NM_001282150:exon4:c.G257T:p.G86V,VPS29:NM_016226:exon2:c.G161T:p.G54V,VPS29:NM_057180:exon3:c.G173T:p.G58V, chr12 110933851 110933851 C A het . 10 +line27495 nonframeshift deletion CUX2:NM_015267:exon17:c.2422_2424del:p.808_808del, chr12 111758235 111758237 TCC - het . 22 +line27496 synonymous SNV SH2B3:NM_005475:exon2:c.C165T:p.H55H, chr12 111856114 111856114 C T het . 12 +line27499 synonymous SNV ATXN2:NM_002973:exon1:c.G522A:p.Q174Q, chr12 112036797 112036797 C T het . 25 +line27500 nonsynonymous SNV ACAD10:NM_025247:exon16:c.G2464A:p.G822S,ACAD10:NM_001136538:exon17:c.G2557A:p.G853S, chr12 112185168 112185168 G A het . 16 +line27506 nonsynonymous SNV HECTD4:NM_001109662:exon30:c.G4210T:p.G1404C, chr12 112681715 112681715 C A het . 30 +line27507 nonsynonymous SNV PTPN11:NM_002834:exon4:c.C340A:p.H114N,PTPN11:NM_001330437:exon4:c.C340A:p.H114N,PTPN11:NM_080601:exon4:c.C340A:p.H114N, chr12 112891006 112891006 C A het . 25 +line27519 synonymous SNV DDX54:NM_024072:exon15:c.C1725T:p.I575I,DDX54:NM_001111322:exon15:c.C1725T:p.I575I, chr12 113602085 113602085 G A het . 10 +line27520 synonymous SNV DDX54:NM_024072:exon5:c.G603A:p.L201L,DDX54:NM_001111322:exon5:c.G603A:p.L201L, chr12 113616793 113616793 C T het . 13 +line27532 nonsynonymous SNV TBX3:NM_016569:exon8:c.T1843G:p.S615A,TBX3:NM_005996:exon7:c.T1783G:p.S595A, chr12 115110035 115110035 A C het . 6 +line27540 nonsynonymous SNV MED13L:NM_015335:exon22:c.G4992T:p.E1664D, chr12 116420372 116420372 C A het . 29 +line27541 nonsynonymous SNV MED13L:NM_015335:exon17:c.A3512G:p.K1171R, chr12 116429247 116429247 T C het . 41 +line27565 nonsynonymous SNV VSIG10:NM_019086:exon6:c.C1303T:p.H435Y, chr12 118509191 118509191 G A het . 13 +line27578 nonsynonymous SNV TMEM233:NM_001136534:exon2:c.C315A:p.F105L, chr12 120067669 120067669 C A het . 11 +line27586 nonsynonymous SNV GCN1:NM_006836:exon35:c.G4321T:p.A1441S, chr12 120587836 120587836 C A het . 12 +line27597 synonymous SNV POP5:NM_015918:exon5:c.T442C:p.L148L,POP5:NM_198202:exon4:c.T292C:p.L98L, chr12 121017171 121017171 A G het . 22 +line27608 frameshift deletion CAMKK2:NM_001270486:exon16:c.1613_1614del:p.K538fs, chr12 121678328 121678329 TT - het . 28 +line27613 nonsynonymous SNV ANAPC5:NM_016237:exon9:c.G1115T:p.G372V,ANAPC5:NM_001137559:exon9:c.G818T:p.G273V,ANAPC5:NM_001330489:exon9:c.G1115T:p.G372V, chr12 121768393 121768393 C A het . 10 +line27621 nonsynonymous SNV SETD1B:NM_001353345:exon5:c.A977G:p.E326G, chr12 122247828 122247828 A G het . 19 +line27623 nonsynonymous SNV WDR66:NM_144668:exon2:c.G197A:p.G66E,WDR66:NM_001178003:exon2:c.G197A:p.G66E, chr12 122359408 122359408 G A het . 13 +line27624 synonymous SNV WDR66:NM_144668:exon2:c.G201A:p.K67K,WDR66:NM_001178003:exon2:c.G201A:p.K67K, chr12 122359412 122359412 G A het . 13 +line27626 nonsynonymous SNV BCL7A:NM_020993:exon5:c.C607A:p.P203T, chr12 122492878 122492878 C A het . 12 +line27627 synonymous SNV MLXIP:NM_014938:exon3:c.C588T:p.D196D, chr12 122612497 122612497 C T het . 8 +line27629 synonymous SNV MLXIP:NM_014938:exon9:c.A1329G:p.P443P, chr12 122618131 122618131 A G het . 4 +line27640 nonsynonymous SNV KNTC1:NM_014708:exon25:c.C2095A:p.H699N, chr12 123057559 123057559 C A het . 27 +line27653 nonsynonymous SNV VPS37B:NM_024667:exon4:c.G617A:p.R206H, chr12 123351904 123351904 C T het . 3 +line27661 synonymous SNV SBNO1:NM_018183:exon14:c.C1698T:p.I566I,SBNO1:NM_001167856:exon14:c.C1701T:p.I567I, chr12 123810873 123810873 G A het . 3 +line27673 nonsynonymous SNV EIF2B1:NM_001414:exon8:c.G655T:p.A219S, chr12 124107281 124107281 C A het . 39 +line27677 synonymous SNV TCTN2:NM_024809:exon7:c.G888A:p.P296P,TCTN2:NM_001143850:exon7:c.G885A:p.P295P, chr12 124172721 124172721 G A het . 22 +line27689 nonframeshift insertion NCOR2:NM_001206654:exon38:c.5487_5488insAGCAGCGGC:p.G1830delinsSSGG,NCOR2:NM_006312:exon39:c.5517_5518insAGCAGCGGC:p.G1840delinsSSGG,NCOR2:NM_001077261:exon38:c.5487_5488insAGCAGCGGC:p.G1830delinsSSGG, chr12 124824721 124824721 - GCCGCTGCT het . 8 +line27691 nonframeshift insertion NCOR2:NM_001206654:exon16:c.1528_1529insAGC:p.P510delinsQP,NCOR2:NM_006312:exon16:c.1531_1532insAGC:p.P511delinsQP,NCOR2:NM_001077261:exon16:c.1528_1529insAGC:p.P510delinsQP, chr12 124887058 124887058 - GCT het . 20 +line27705 synonymous SNV TMEM132B:NM_052907:exon7:c.C1773A:p.G591G,TMEM132B:NM_001286219:exon3:c.C309A:p.G103G, chr12 126135373 126135373 C A het . 25 +line27706 nonsynonymous SNV TMEM132B:NM_052907:exon9:c.C2228T:p.S743F,TMEM132B:NM_001286219:exon5:c.C764T:p.S255F, chr12 126138247 126138247 C T het . 27 +line27747 synonymous SNV TMEM132D:NM_133448:exon9:c.C3183T:p.T1061T, chr12 129558537 129558537 G A het . 15 +line27763 nonsynonymous SNV PIWIL1:NM_001190971:exon20:c.A2401G:p.S801G,PIWIL1:NM_004764:exon20:c.A2401G:p.S801G, chr12 130855800 130855800 A G het . 20 +line27769 nonsynonymous SNV ADGRD1:NM_198827:exon7:c.C794A:p.S265Y,ADGRD1:NM_001330497:exon8:c.C890A:p.S297Y, chr12 131475607 131475607 C A het . 11 +line27775 nonsynonymous SNV SFSWAP:NM_004592:exon4:c.G565A:p.V189I,SFSWAP:NM_001261411:exon4:c.G565A:p.V189I, chr12 132204043 132204043 G A het . 26 +line27776 synonymous SNV SFSWAP:NM_004592:exon15:c.T2514C:p.S838S,SFSWAP:NM_001261411:exon16:c.T2670C:p.S890S, chr12 132271113 132271113 T C het . 4 +line27782 nonsynonymous SNV ULK1:NM_003565:exon6:c.A319T:p.M107L, chr12 132393191 132393191 A T het . 6 +line27784 nonframeshift deletion EP400:NM_015409:exon47:c.8182_8184del:p.2728_2728del, chr12 132547094 132547096 CAG - het . 16 +line27785 nonsynonymous SNV NOC4L:NM_024078:exon12:c.C1204T:p.R402W, chr12 132636159 132636159 C T het . 11 +line27841 nonsynonymous SNV TPTE2:NM_001271850:exon5:c.A343G:p.I115V,TPTE2:NM_001141968:exon17:c.A997G:p.I333V,TPTE2:NM_199254:exon19:c.A1330G:p.I444V,TPTE2:NM_130785:exon16:c.A1099G:p.I367V, chr13 20000630 20000630 T C het . 14 +line27843 nonsynonymous SNV TPTE2:NM_199254:exon7:c.A232C:p.I78L,TPTE2:NM_130785:exon5:c.A121C:p.I41L, chr13 20048214 20048214 T G het . 4 +line27852 synonymous SNV MPHOSPH8:NM_017520:exon3:c.A375G:p.L125L, chr13 20220588 20220588 A G het . 9 +line27869 nonsynonymous SNV GJB2:NM_004004:exon2:c.G457A:p.V153I, chr13 20763264 20763264 C T het . 27 +line27887 synonymous SNV LATS2:NM_014572:exon4:c.G1032T:p.P344P, chr13 21562887 21562887 C A het . 6 +line27932 nonsynonymous SNV SACS:NM_014363:exon8:c.G1674T:p.Q558H,SACS:NM_001278055:exon6:c.G1233T:p.Q411H, chr13 23929077 23929077 C A het . 20 +line27936 synonymous SNV TNFRSF19:NM_001354985:exon7:c.A624G:p.S208S,TNFRSF19:NM_148957:exon7:c.A624G:p.S208S,TNFRSF19:NM_001204459:exon5:c.A228G:p.S76S,TNFRSF19:NM_018647:exon7:c.A624G:p.S208S,TNFRSF19:NM_001204458:exon7:c.A624G:p.S208S, chr13 24234517 24234517 A G het . 3 +line27947 nonsynonymous SNV PARP4:NM_006437:exon26:c.T3194C:p.V1065A, chr13 25021245 25021245 A G het . 8 +line27948 nonsynonymous SNV PARP4:NM_006437:exon26:c.A3176G:p.Q1059R, chr13 25021263 25021263 T C het . 9 +line27964 synonymous SNV CENPJ:NM_018451:exon2:c.G408T:p.G136G, chr13 25486756 25486756 C A het . 26 +line27969 nonsynonymous SNV PABPC3:NM_030979:exon1:c.A935G:p.K312R, chr13 25671271 25671271 A G het . 29 +line27970 frameshift deletion PABPC3:NM_030979:exon1:c.937delG:p.A313fs, chr13 25671273 25671273 G - het . 29 +line27971 nonsynonymous SNV PABPC3:NM_030979:exon1:c.C938T:p.A313V, chr13 25671274 25671274 C T het . 28 +line27972 nonsynonymous SNV PABPC3:NM_030979:exon1:c.C956T:p.T319I, chr13 25671292 25671292 C T het . 23 +line27973 frameshift deletion PABPC3:NM_030979:exon1:c.975_979del:p.V325fs, chr13 25671311 25671315 TATGA - het . 28 +line27974 frameshift deletion PABPC3:NM_030979:exon1:c.997delA:p.K333fs, chr13 25671333 25671333 A - het . 17 +line27984 nonsynonymous SNV ATP8A2:NM_016529:exon10:c.C878A:p.T293N,ATP8A2:NM_001313741:exon10:c.C758A:p.T253N, chr13 26117527 26117527 C A het . 16 +line28007 nonsynonymous SNV PDX1:NM_000209:exon1:c.A227C:p.D76A, chr13 28494502 28494502 A C het . 20 +line28008 synonymous SNV PDX1:NM_000209:exon2:c.C513A:p.I171I, chr13 28498499 28498499 C A het . 28 +line28010 nonsynonymous SNV CDX2:NM_001265:exon3:c.C877T:p.P293S, chr13 28537317 28537317 G A het . 14 +line28069 nonsynonymous SNV FRY:NM_023037:exon20:c.C2371A:p.L791I, chr13 32749719 32749719 C A het . 30 +line28078 stopgain BRCA2:NM_000059:exon11:c.C2612A:p.S871X, chr13 32911104 32911104 C A het . 18 +line28079 nonsynonymous SNV BRCA2:NM_000059:exon13:c.C6967T:p.H2323Y, chr13 32920993 32920993 C T het . 28 +line28097 frameshift insertion RFC3:NM_002915:exon3:c.235dupA:p.S78fs,RFC3:NM_181558:exon3:c.235dupA:p.S78fs, chr13 34398062 34398062 - A het . 20 +line28112 nonsynonymous SNV NBEA:NM_015678:exon51:c.C7726A:p.P2576T,NBEA:NM_001204197:exon11:c.C1105A:p.P369T, chr13 36223810 36223810 C A het . 16 +line28114 nonsynonymous SNV CCDC169:NM_001144983:exon4:c.A53G:p.K18R,CCDC169:NM_001144982:exon4:c.A53G:p.K18R,CCDC169:NM_001144986:exon4:c.A53G:p.K18R,CCDC169:NM_001198908:exon5:c.A359G:p.K120R,CCDC169:NM_001144984:exon3:c.A59G:p.K20R,CCDC169-SOHLH2:NM_001198910:exon3:c.A59G:p.K20R,CCDC169:NM_001144981:exon5:c.A359G:p.K120R,CCDC169:NM_001144985:exon4:c.A53G:p.K18R, chr13 36828237 36828237 T C het . 17 +line28122 nonsynonymous SNV EXOSC8:NM_181503:exon6:c.C260A:p.P87H, chr13 37580078 37580078 C A het . 20 +line28145 synonymous SNV FREM2:NM_207361:exon22:c.C8784A:p.P2928P, chr13 39452383 39452383 C A het . 30 +line28147 synonymous SNV PROSER1:NM_170719:exon10:c.G1560A:p.P520P,PROSER1:NM_025138:exon11:c.G1626A:p.P542P, chr13 39587763 39587763 C T het . 11 +line28148 synonymous SNV PROSER1:NM_170719:exon10:c.T1458G:p.S486S,PROSER1:NM_025138:exon11:c.T1524G:p.S508S, chr13 39587865 39587865 A C het . 9 +line28149 synonymous SNV PROSER1:NM_170719:exon10:c.A1434G:p.L478L,PROSER1:NM_025138:exon11:c.A1500G:p.L500L, chr13 39587889 39587889 T C het . 18 +line28165 nonsynonymous SNV MRPS31:NM_005830:exon7:c.C1042T:p.R348C, chr13 41303654 41303654 G A het . 41 +line28170 synonymous SNV KBTBD7:NM_032138:exon1:c.T1056C:p.P352P, chr13 41767338 41767338 A G het . 9 +line28171 synonymous SNV KBTBD7:NM_032138:exon1:c.T1053C:p.H351H, chr13 41767341 41767341 A G het . 9 +line28214 nonsynonymous SNV ZC3H13:NM_001330566:exon12:c.C1894T:p.R632C,ZC3H13:NM_001330565:exon11:c.C1894T:p.R632C,ZC3H13:NM_001330564:exon11:c.C1894T:p.R632C,ZC3H13:NM_001076788:exon11:c.C1894T:p.R632C,ZC3H13:NM_001330567:exon11:c.C1894T:p.R632C,ZC3H13:NM_015070:exon11:c.C1894T:p.R632C, chr13 46553966 46553966 G A het . 6 +line28273 nonsynonymous SNV KPNA3:NM_002267:exon3:c.G202T:p.A68S, chr13 50307095 50307095 C A het . 20 +line28295 nonsynonymous SNV ALG11:NM_001004127:exon3:c.G699T:p.K233N, chr13 52598565 52598565 G T het . 15 +line28353 nonsynonymous SNV DIAPH3:NM_001258370:exon15:c.C1606T:p.R536W,DIAPH3:NM_001258367:exon19:c.C2257T:p.R753W,DIAPH3:NM_001258369:exon21:c.C2395T:p.R799W,DIAPH3:NM_001042517:exon21:c.C2395T:p.R799W,DIAPH3:NM_001258368:exon19:c.C2185T:p.R729W,DIAPH3:NM_001258366:exon20:c.C2362T:p.R788W,DIAPH3:NM_030932:exon15:c.C1606T:p.R536W, chr13 60453575 60453575 G A het . 14 +line28362 nonsynonymous SNV PCDH20:NM_022843:exon2:c.G2328T:p.M776I, chr13 61985904 61985904 C A het . 27 +line28363 synonymous SNV PCDH20:NM_022843:exon2:c.G1314T:p.V438V, chr13 61986918 61986918 C A het . 14 +line28517 nonsynonymous SNV KLHL1:NM_020866:exon1:c.G379A:p.E127K,KLHL1:NM_001286725:exon1:c.G379A:p.E127K, chr13 70681453 70681453 C T het . 23 +line28569 nonsynonymous SNV TBC1D4:NM_001286659:exon11:c.A2065G:p.T689A,TBC1D4:NM_001286658:exon12:c.A2230G:p.T744A,TBC1D4:NM_014832:exon13:c.A2254G:p.T752A, chr13 75887003 75887003 T C het . 26 +line28574 synonymous SNV TBC1D4:NM_001286659:exon1:c.C84G:p.P28P,TBC1D4:NM_001286658:exon1:c.C84G:p.P28P,TBC1D4:NM_014832:exon1:c.C84G:p.P28P, chr13 76055820 76055820 G C het . 5 +line28575 synonymous SNV TBC1D4:NM_001286659:exon1:c.C78A:p.P26P,TBC1D4:NM_001286658:exon1:c.C78A:p.P26P,TBC1D4:NM_014832:exon1:c.C78A:p.P26P, chr13 76055826 76055826 G T het . 4 +line28587 nonsynonymous SNV CLN5:NM_006493:exon1:c.T223C:p.W75R, chr13 77566309 77566309 T C het . 18 +line28592 stopgain MYCBP2:NM_015057:exon61:c.G10723T:p.E3575X, chr13 77662969 77662969 C A het . 20 +line28593 nonsynonymous SNV MYCBP2:NM_015057:exon57:c.G9911T:p.R3304I, chr13 77670490 77670490 C A het . 15 +line28594 synonymous SNV MYCBP2:NM_015057:exon56:c.G8880T:p.V2960V, chr13 77672409 77672409 C A het . 25 +line28595 nonsynonymous SNV MYCBP2:NM_015057:exon56:c.G8793T:p.E2931D, chr13 77672496 77672496 C A het . 38 +line28597 nonsynonymous SNV MYCBP2:NM_015057:exon32:c.C4573A:p.Q1525K, chr13 77759384 77759384 G T het . 22 +line28604 nonsynonymous SNV RNF219:NM_024546:exon6:c.G1517T:p.C506F, chr13 79190379 79190379 C A het . 34 +line28712 nonsynonymous SNV GPR180:NM_180989:exon4:c.G598A:p.G200R, chr13 95271496 95271496 G A het . 15 +line28754 stopgain FARP1:NM_005766:exon10:c.G917A:p.W306X,FARP1:NM_001286839:exon10:c.G917A:p.W306X, chr13 99042272 99042272 G A het . 19 +line28760 nonsynonymous SNV SLC15A1:NM_005073:exon6:c.G403A:p.G135R, chr13 99374120 99374120 C T het . 9 +line28782 synonymous SNV PCCA:NM_001352612:exon19:c.A807G:p.T269T,PCCA:NM_001352609:exon21:c.A1896G:p.T632T,PCCA:NM_000282:exon21:c.A1896G:p.T632T,PCCA:NM_001178004:exon21:c.A1896G:p.T632T,PCCA:NM_001352610:exon20:c.A951G:p.T317T,PCCA:NM_001352607:exon20:c.A1818G:p.T606T,PCCA:NM_001352608:exon19:c.A1674G:p.T558T,PCCA:NM_001352606:exon20:c.A1752G:p.T584T,PCCA:NM_001127692:exon20:c.A1818G:p.T606T, chr13 101101556 101101556 A G het . 17 +line28793 nonsynonymous SNV NALCN:NM_001350750:exon5:c.G491T:p.R164M,NALCN:NM_001350748:exon5:c.G491T:p.R164M,NALCN:NM_001350749:exon5:c.G491T:p.R164M,NALCN:NM_052867:exon5:c.G491T:p.R164M,NALCN:NM_001350751:exon5:c.G491T:p.R164M, chr13 102029292 102029292 C A het . 29 +line28804 nonsynonymous SNV METTL21C:NM_001010977:exon1:c.G43C:p.G15R, chr13 103346806 103346806 C G het . 15 +line28805 nonsynonymous SNV CCDC168:NM_001146197:exon4:c.G17680T:p.D5894Y, chr13 103385367 103385367 C A het . 25 +line28806 nonsynonymous SNV CCDC168:NM_001146197:exon4:c.G13471T:p.V4491L, chr13 103389576 103389576 C A het . 27 +line28807 nonsynonymous SNV CCDC168:NM_001146197:exon4:c.A10832T:p.N3611I, chr13 103392215 103392215 T A het . 38 +line28808 nonsynonymous SNV CCDC168:NM_001146197:exon4:c.T5480C:p.I1827T, chr13 103397567 103397567 A G het . 39 +line28809 nonsynonymous SNV CCDC168:NM_001146197:exon4:c.G5464C:p.A1822P, chr13 103397583 103397583 C G het . 41 +line28810 nonsynonymous SNV CCDC168:NM_001146197:exon4:c.A1664T:p.K555I, chr13 103401383 103401383 T A het . 29 +line28861 nonframeshift deletion FAM155A:NM_001080396:exon1:c.218_229del:p.73_77del, chr13 108518716 108518727 GCTGCTGCTGCT - het . 28 +line28871 synonymous SNV ABHD13:NM_032859:exon2:c.C678A:p.A226A, chr13 108882244 108882244 C A het . 23 +line28889 nonsynonymous SNV COL4A1:NM_001845:exon21:c.G1147T:p.A383S,COL4A1:NM_001303110:exon21:c.G1147T:p.A383S, chr13 110850952 110850952 C A het . 41 +line28897 synonymous SNV COL4A2-AS2:NM_001267044:exon5:c.C915T:p.I305I, chr13 111109157 111109157 G A het . 16 +line28901 synonymous SNV CARS2:NM_024537:exon13:c.A1326G:p.E442E,CARS2:NM_001352252:exon14:c.A540G:p.E180E, chr13 111296822 111296822 T C het . 29 +line28902 nonsynonymous SNV ING1:NM_005537:exon1:c.T374G:p.L125R, chr13 111368164 111368164 T G het . 10 +line28926 nonsynonymous SNV F10:NM_001312674:exon7:c.A952G:p.S318G,F10:NM_000504:exon8:c.A1084G:p.S362G, chr13 113803448 113803448 A G het . 41 +line28935 synonymous SNV LAMP1:NM_005561:exon4:c.C556A:p.R186R, chr13 113965176 113965176 C A het . 6 +line28941 synonymous SNV ATP4B:NM_000705:exon1:c.A106C:p.R36R, chr13 114312354 114312354 T G het . 13 +line28948 synonymous SNV RASA3:NM_007368:exon12:c.C1140T:p.I380I,RASA3:NM_001320822:exon12:c.C1044T:p.I348I, chr13 114782779 114782779 G A het . 32 +line28959 nonsynonymous SNV OR4K1:NM_001004063:exon1:c.A515G:p.N172S, chr14 20404340 20404340 A G het . 30 +line28960 synonymous SNV OR4K15:NM_001005486:exon1:c.T489G:p.R163R, chr14 20444166 20444166 T G het . 18 +line28961 synonymous SNV OR4K15:NM_001005486:exon1:c.A516C:p.S172S, chr14 20444193 20444193 A C het . 9 +line28963 synonymous SNV OR4K17:NM_001004715:exon1:c.C867T:p.Y289Y, chr14 20586432 20586432 C T het . 13 +line28964 frameshift insertion OR11G2:NM_001005503:exon1:c.682dupA:p.C227fs, chr14 20666175 20666175 - A het . 19 +line28965 synonymous SNV OR11H6:NM_001004480:exon1:c.C423T:p.Y141Y, chr14 20692291 20692291 C T het . 17 +line28973 stoploss APEX1:NM_001641:exon5:c.A957C:p.X319C,APEX1:NM_080648:exon5:c.A957C:p.X319C,APEX1:NM_001244249:exon5:c.A957C:p.X319C,APEX1:NM_080649:exon5:c.A957C:p.X319C, chr14 20925667 20925667 A C het . 27 +line28977 nonsynonymous SNV SLC39A2:NM_001256588:exon2:c.T128G:p.L43R,SLC39A2:NM_014579:exon2:c.T128G:p.L43R, chr14 21467913 21467913 T G het . 13 +line28978 nonsynonymous SNV SLC39A2:NM_001256588:exon2:c.G149A:p.C50Y,SLC39A2:NM_014579:exon2:c.G149A:p.C50Y, chr14 21467934 21467934 G A het . 17 +line28983 nonsynonymous SNV ZNF219:NM_016423:exon3:c.G761T:p.R254L,ZNF219:NM_001102454:exon3:c.G761T:p.R254L,ZNF219:NM_001101672:exon3:c.G761T:p.R254L, chr14 21560695 21560695 C A het . 30 +line28992 synonymous SNV CHD8:NM_020920:exon11:c.C1423T:p.L475L,CHD8:NM_001170629:exon10:c.C2260T:p.L754L, chr14 21878114 21878114 G A het . 18 +line28993 synonymous SNV CHD8:NM_020920:exon3:c.C60T:p.P20P,CHD8:NM_001170629:exon2:c.C897T:p.P299P, chr14 21897441 21897441 G A het . 4 +line28997 synonymous SNV METTL3:NM_019852:exon3:c.G345C:p.G115G, chr14 21971694 21971694 C G het . 10 +line29041 synonymous SNV OXA1L:NM_005015:exon8:c.T1221A:p.R407R, chr14 23240328 23240328 T A het . 12 +line29042 nonframeshift insertion OXA1L:NM_005015:exon10:c.1434_1435insAGC:p.P478delinsPS, chr14 23240713 23240713 - AGC het . 22 +line29043 synonymous SNV SLC7A7:NM_001126105:exon3:c.G159A:p.S53S,SLC7A7:NM_001126106:exon3:c.G159A:p.S53S, chr14 23282449 23282449 C T het . 5 +line29046 nonsynonymous SNV MMP14:NM_004995:exon10:c.T1586G:p.V529G, chr14 23315085 23315085 T G het . 12 +line29047 nonframeshift insertion RBM23:NM_001352765:exon12:c.1131_1132insGCC:p.Q378delinsAQ,RBM23:NM_001352766:exon14:c.1179_1180insGCC:p.Q394delinsAQ,RBM23:NM_001352764:exon13:c.1311_1312insGCC:p.Q438delinsAQ,RBM23:NM_001077351:exon12:c.1179_1180insGCC:p.Q394delinsAQ,RBM23:NM_001308044:exon10:c.669_670insGCC:p.Q224delinsAQ,RBM23:NM_018107:exon11:c.1131_1132insGCC:p.Q378delinsAQ,RBM23:NM_001077352:exon10:c.1077_1078insGCC:p.Q360delinsAQ,RBM23:NM_001352763:exon13:c.1179_1180insGCC:p.Q394delinsAQ,RBM23:NM_001352762:exon11:c.669_670insGCC:p.Q224delinsAQ, chr14 23371255 23371255 - GGC het . 14 +line29050 synonymous SNV HAUS4:NM_001166269:exon5:c.A447G:p.E149E,HAUS4:NM_017815:exon5:c.A447G:p.E149E, chr14 23420782 23420782 T C het . 24 +line29053 nonframeshift insertion ACIN1:NM_001164815:exon5:c.1810_1811insATTCAC:p.R604delinsHSR,ACIN1:NM_001164814:exon6:c.1930_1931insATTCAC:p.R644delinsHSR,ACIN1:NM_014977:exon6:c.1930_1931insATTCAC:p.R644delinsHSR, chr14 23548787 23548787 - GTGAAT het . 9 +line29054 nonframeshift substitution ACIN1:NM_001164815:exon5:c.1218_1219TC,ACIN1:NM_001164814:exon6:c.1338_1339TC,ACIN1:NM_014977:exon6:c.1338_1339TC, chr14 23549379 23549380 CG GA het . 26 +line29057 frameshift deletion LMLN2:NM_001354640:exon1:c.17delT:p.L6fs, chr14 23574113 23574113 A - het . 8 +line29058 frameshift deletion LMLN2:NM_001354640:exon1:c.14_15del:p.L5fs, chr14 23574115 23574116 CA - het . 8 +line29060 nonframeshift deletion HOMEZ:NM_020834:exon2:c.1608_1610del:p.536_537del, chr14 23744827 23744829 TCC - het . 14 +line29063 synonymous SNV MYH6:NM_002471:exon17:c.C1989T:p.N663N, chr14 23866440 23866440 G A het . 33 +line29068 synonymous SNV MYH7:NM_000257:exon14:c.C1395T:p.F465F, chr14 23898176 23898176 G A het . 11 +line29077 nonframeshift insertion REC8:NM_001048205:exon8:c.681_682insGAA:p.E227delinsEE,REC8:NM_005132:exon9:c.681_682insGAA:p.E227delinsEE, chr14 24646406 24646406 - GAA het . 19 +line29084 nonframeshift insertion NOP9:NM_001286367:exon2:c.483_484insGAGGAG:p.A161delinsAEE,NOP9:NM_174913:exon2:c.483_484insGAGGAG:p.A161delinsAEE, chr14 24769849 24769849 - GAGGAG het . 7 +line29086 nonframeshift deletion ADCY4:NM_001198568:exon1:c.100_102del:p.34_34del,ADCY4:NM_139247:exon2:c.100_102del:p.34_34del,ADCY4:NM_001198592:exon2:c.100_102del:p.34_34del, chr14 24803757 24803759 CAG - het . 9 +line29088 synonymous SNV RIPK3:NM_006871:exon2:c.G48T:p.V16V, chr14 24808776 24808776 C A het . 9 +line29143 synonymous SNV HECTD1:NM_015382:exon25:c.T4329C:p.S1443S, chr14 31598248 31598248 A G het . 26 +line29157 nonsynonymous SNV AKAP6:NM_004274:exon4:c.C1901A:p.P634H, chr14 33015760 33015760 C A het . 25 +line29161 nonsynonymous SNV AKAP6:NM_004274:exon13:c.C4279A:p.Q1427K, chr14 33291298 33291298 C A het . 18 +line29214 nonsynonymous SNV MBIP:NM_016586:exon1:c.T20A:p.L7H,MBIP:NM_001144891:exon1:c.T20A:p.L7H,MBIP:NM_001308110:exon1:c.T20A:p.L7H, chr14 36789775 36789775 A T het . 4 +line29236 nonsynonymous SNV CLEC14A:NM_175060:exon1:c.G1468T:p.A490S, chr14 38723760 38723760 C A het . 2 +line29292 synonymous SNV FANCM:NM_020937:exon21:c.C5508A:p.S1836S,FANCM:NM_001308133:exon20:c.C5430A:p.S1810S, chr14 45665542 45665542 C A het . 27 +line29328 nonsynonymous SNV LRR1:NM_152329:exon3:c.G503A:p.R168Q, chr14 50074338 50074338 G A het . 22 +line29330 nonsynonymous SNV MGAT2:NM_002408:exon1:c.C941A:p.S314Y, chr14 50088927 50088927 C A het . 20 +line29332 synonymous SNV POLE2:NM_001348384:exon18:c.T1530G:p.V510V,POLE2:NM_002692:exon18:c.T1533G:p.V511V,POLE2:NM_001197330:exon17:c.T1455G:p.V485V,POLE2:NM_001348385:exon18:c.T1302G:p.V434V, chr14 50114043 50114043 A C het . 28 +line29399 nonsynonymous SNV PYGL:NM_001163940:exon10:c.T1251A:p.H417Q,PYGL:NM_002863:exon11:c.T1353A:p.H451Q, chr14 51382104 51382104 A T het . 36 +line29433 synonymous SNV DDHD1:NM_001160148:exon1:c.C354T:p.H118H,DDHD1:NM_030637:exon1:c.C354T:p.H118H,DDHD1:NM_001160147:exon1:c.C354T:p.H118H, chr14 53619463 53619463 G A het . 12 +line29434 nonframeshift insertion DDHD1:NM_001160148:exon1:c.336_337insGGCGGC:p.S113delinsGGS,DDHD1:NM_030637:exon1:c.336_337insGGCGGC:p.S113delinsGGS,DDHD1:NM_001160147:exon1:c.336_337insGGCGGC:p.S113delinsGGS, chr14 53619480 53619480 - GCCGCC het . 13 +line29470 nonsynonymous SNV OTX2:NM_172337:exon3:c.G733A:p.A245T,OTX2:NM_001270524:exon4:c.G733A:p.A245T,OTX2:NM_021728:exon5:c.G757A:p.A253T,OTX2:NM_001270525:exon3:c.G757A:p.A253T,OTX2:NM_001270523:exon5:c.G733A:p.A245T, chr14 57268590 57268590 C T het . 44 +line29475 synonymous SNV AP5M1:NM_018229:exon2:c.A387G:p.S129S, chr14 57741274 57741274 A G het . 26 +line29479 nonsynonymous SNV SLC35F4:NM_001206920:exon3:c.G359C:p.C120S,SLC35F4:NM_001352015:exon3:c.G353C:p.C118S,SLC35F4:NM_001306087:exon3:c.G362C:p.C121S,SLC35F4:NM_001352011:exon3:c.G362C:p.C121S,SLC35F4:NM_001352016:exon3:c.G353C:p.C118S,SLC35F4:NM_001352012:exon4:c.G296C:p.C99S, chr14 58056159 58056159 C G het . 20 +line29483 nonsynonymous SNV ARMH4:NM_001320173:exon2:c.G5T:p.R2I,ARMH4:NM_001001872:exon2:c.G5T:p.R2I, chr14 58606072 58606072 C A het . 12 +line29500 synonymous SNV DAAM1:NM_001270520:exon14:c.A1656C:p.P552P,DAAM1:NM_014992:exon13:c.A1656C:p.P552P, chr14 59798022 59798022 A C het . 5 +line29502 nonsynonymous SNV GPR135:NM_022571:exon1:c.C248T:p.A83V, chr14 59931697 59931697 G A het . 4 +line29530 nonsynonymous SNV SLC38A6:NM_001172702:exon6:c.C439T:p.L147F,SLC38A6:NM_153811:exon6:c.C439T:p.L147F, chr14 61497198 61497198 C T het . 15 +line29559 nonsynonymous SNV SYNE2:NM_015180:exon47:c.C7423A:p.L2475M,SYNE2:NM_182914:exon47:c.C7423A:p.L2475M, chr14 64516374 64516374 C A het . 33 +line29561 nonsynonymous SNV SYNE2:NM_015180:exon73:c.C13880A:p.S4627Y,SYNE2:NM_182914:exon73:c.C13880A:p.S4627Y, chr14 64593488 64593488 C A het . 31 +line29564 nonsynonymous SNV SYNE2:NM_015180:exon110:c.G19874A:p.S6625N,SYNE2:NM_182913:exon6:c.G845A:p.S282N,SYNE2:NM_182910:exon4:c.G467A:p.S156N,SYNE2:NM_182914:exon111:c.G19943A:p.S6648N, chr14 64687237 64687237 G A het . 46 +line29571 nonsynonymous SNV MTHFD1:NM_005956:exon26:c.C2652A:p.F884L,MTHFD1:NM_001364837:exon26:c.C2652A:p.F884L, chr14 64921527 64921527 C A het . 41 +line29576 nonsynonymous SNV PLEKHG3:NM_001308147:exon17:c.G3148A:p.V1050I, chr14 65209909 65209909 G A het . 13 +line29623 nonsynonymous SNV EXD2:NM_001193361:exon8:c.G1554T:p.Q518H,EXD2:NM_018199:exon7:c.G1179T:p.Q393H,EXD2:NM_001193360:exon9:c.G1554T:p.Q518H,EXD2:NM_001193362:exon9:c.G1554T:p.Q518H,EXD2:NM_001193363:exon8:c.G1554T:p.Q518H, chr14 69704553 69704553 G T het . 4 +line29661 nonsynonymous SNV DPF3:NM_001280542:exon3:c.C271A:p.P91T,DPF3:NM_001280543:exon4:c.C301A:p.P101T,DPF3:NM_012074:exon3:c.C271A:p.P91T,DPF3:NM_001280544:exon3:c.C436A:p.P146T, chr14 73220002 73220002 G T het . 5 +line29662 synonymous SNV DPF3:NM_001280542:exon3:c.T253C:p.L85L,DPF3:NM_001280543:exon4:c.T283C:p.L95L,DPF3:NM_012074:exon3:c.T253C:p.L85L,DPF3:NM_001280544:exon3:c.T418C:p.L140L, chr14 73220020 73220020 A G het . 5 +line29667 synonymous SNV ZFYVE1:NM_001281734:exon3:c.T504C:p.F168F,ZFYVE1:NM_021260:exon3:c.T504C:p.F168F, chr14 73465003 73465003 A G het . 4 +line29668 nonsynonymous SNV RBM25:NM_021239:exon2:c.A61C:p.I21L, chr14 73538410 73538410 A C het . 31 +line29672 nonsynonymous SNV PSEN1:NM_007318:exon12:c.C1378A:p.Q460K,PSEN1:NM_000021:exon12:c.C1390A:p.Q464K, chr14 73685983 73685983 C A het . 39 +line29675 synonymous SNV HEATR4:NM_203309:exon14:c.A2547G:p.K849K,HEATR4:NM_001220484:exon15:c.A2547G:p.K849K, chr14 73963383 73963383 T C het . 18 +line29688 nonsynonymous SNV ALDH6A1:NM_001278594:exon12:c.T1121G:p.V374G,ALDH6A1:NM_001278593:exon12:c.T1544G:p.V515G,ALDH6A1:NM_005589:exon12:c.T1583G:p.V528G, chr14 74527370 74527370 A C het . 40 +line29709 nonsynonymous SNV PROX2:NM_001243007:exon1:c.A961C:p.T321P, chr14 75329577 75329577 T G het . 11 +line29714 nonsynonymous SNV ACYP1:NM_001302617:exon1:c.C68T:p.A23V, chr14 75535927 75535927 G A het . 5 +line29718 nonsynonymous SNV NEK9:NM_001329237:exon6:c.T682G:p.Y228D,NEK9:NM_033116:exon6:c.T682G:p.Y228D,NEK9:NM_001329238:exon6:c.T328G:p.Y110D, chr14 75583978 75583978 A C het . 15 +line29731 nonsynonymous SNV GPATCH2L:NM_001322026:exon7:c.C1237A:p.L413I,GPATCH2L:NM_001322032:exon7:c.C1141A:p.L381I, chr14 76644419 76644419 C A het . 35 +line29745 nonframeshift deletion IRF2BPL:NM_024496:exon1:c.486_488del:p.162_163del, chr14 77493648 77493650 GCG - het . 8 +line29746 nonframeshift deletion IRF2BPL:NM_024496:exon1:c.369_374del:p.123_125del, chr14 77493762 77493767 TGCTGC - het . 11 +line29783 nonsynonymous SNV TSHR:NM_000369:exon1:c.G106C:p.D36H,TSHR:NM_001018036:exon1:c.G106C:p.D36H,TSHR:NM_001142626:exon1:c.G106C:p.D36H, chr14 81422130 81422130 G C het . 25 +line29842 nonsynonymous SNV TTC8:NM_144596:exon13:c.C1153A:p.R385S,TTC8:NM_001288781:exon13:c.C1201A:p.R401S,TTC8:NM_001288782:exon11:c.C559A:p.R187S,TTC8:NM_001288783:exon12:c.C436A:p.R146S,TTC8:NM_198309:exon12:c.C1123A:p.R375S,TTC8:NM_198310:exon11:c.C1033A:p.R345S, chr14 89337996 89337996 C A het . 28 +line29851 nonsynonymous SNV KCNK13:NM_022054:exon1:c.C293A:p.T98N, chr14 90528842 90528842 C A het . 10 +line29870 nonsynonymous SNV CCDC88C:NM_001080414:exon30:c.T5975C:p.L1992P, chr14 91739081 91739081 A G het . 3 +line29872 nonsynonymous SNV CCDC88C:NM_001080414:exon8:c.A635C:p.D212A, chr14 91805796 91805796 T G het . 4 +line29895 frameshift insertion ATXN3:NM_001164776:exon4:c.278_279insC:p.G93fs,ATXN3:NM_001164780:exon7:c.379_380insC:p.G127fs,ATXN3:NM_001164778:exon6:c.431_432insC:p.G144fs,ATXN3:NM_004993:exon10:c.916_917insC:p.G306fs,ATXN3:NM_030660:exon9:c.751_752insC:p.G251fs,ATXN3:NM_001164781:exon8:c.706_707insC:p.G236fs,ATXN3:NM_001127697:exon8:c.763_764insC:p.G255fs,ATXN3:NM_001164782:exon2:c.68_69insC:p.G23fs,ATXN3:NM_001164774:exon3:c.233_234insC:p.G78fs,ATXN3:NM_001164779:exon6:c.553_554insC:p.G185fs,ATXN3:NM_001127696:exon9:c.871_872insC:p.G291fs,ATXN3:NM_001164777:exon3:c.113_114insC:p.G38fs, chr14 92537353 92537353 - G het . 24 +line29896 frameshift insertion ATXN3:NM_001164776:exon4:c.277_278insCAGCAGCAGCAGCAGCA:p.G93fs,ATXN3:NM_001164780:exon7:c.378_379insCAGCAGCAGCAGCAGCA:p.G127fs,ATXN3:NM_001164778:exon6:c.430_431insCAGCAGCAGCAGCAGCA:p.G144fs,ATXN3:NM_004993:exon10:c.915_916insCAGCAGCAGCAGCAGCA:p.G306fs,ATXN3:NM_030660:exon9:c.750_751insCAGCAGCAGCAGCAGCA:p.G251fs,ATXN3:NM_001164781:exon8:c.705_706insCAGCAGCAGCAGCAGCA:p.G236fs,ATXN3:NM_001127697:exon8:c.762_763insCAGCAGCAGCAGCAGCA:p.G255fs,ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCA:p.G23fs,ATXN3:NM_001164774:exon3:c.232_233insCAGCAGCAGCAGCAGCA:p.G78fs,ATXN3:NM_001164779:exon6:c.552_553insCAGCAGCAGCAGCAGCA:p.G185fs,ATXN3:NM_001127696:exon9:c.870_871insCAGCAGCAGCAGCAGCA:p.G291fs,ATXN3:NM_001164777:exon3:c.112_113insCAGCAGCAGCAGCAGCA:p.G38fs, chr14 92537354 92537354 - TGCTGCTGCTGCTGCTG het . 24 +line29897 synonymous SNV ATXN3:NM_004993:exon7:c.C492T:p.V164V,ATXN3:NM_030660:exon6:c.C327T:p.V109V,ATXN3:NM_001164781:exon5:c.C282T:p.V94V,ATXN3:NM_001127697:exon5:c.C339T:p.V113V,ATXN3:NM_001164779:exon3:c.C129T:p.V43V,ATXN3:NM_001127696:exon6:c.C447T:p.V149V, chr14 92549586 92549586 G A het . 23 +line29912 synonymous SNV SLC24A4:NM_153648:exon12:c.A1005G:p.P335P,SLC24A4:NM_153646:exon12:c.A1197G:p.P399P,SLC24A4:NM_153647:exon13:c.A1140G:p.P380P, chr14 92922894 92922894 A G het . 30 +line29913 synonymous SNV SLC24A4:NM_153648:exon12:c.G1011A:p.P337P,SLC24A4:NM_153646:exon12:c.G1203A:p.P401P,SLC24A4:NM_153647:exon13:c.G1146A:p.P382P, chr14 92922900 92922900 G A het . 29 +line29915 synonymous SNV RIN3:NM_001319987:exon5:c.G1050A:p.T350T,RIN3:NM_024832:exon6:c.G1275A:p.T425T, chr14 93118669 93118669 G A het . 4 +line29916 nonsynonymous SNV LGMN:NM_005606:exon13:c.A1211G:p.H404R,LGMN:NM_001363696:exon13:c.A1040G:p.H347R,LGMN:NM_001008530:exon14:c.A1211G:p.H404R, chr14 93171033 93171033 T C het . 25 +line29925 nonframeshift deletion CHGA:NM_001301690:exon6:c.629_631del:p.210_211del,CHGA:NM_001275:exon7:c.1082_1084del:p.361_362del, chr14 93398988 93398990 AGG - het . 24 +line29939 nonframeshift deletion DDX24:NM_020414:exon2:c.266_268del:p.89_90del, chr14 94545821 94545823 CCT - het . 31 +line29940 nonframeshift insertion IFI27:NM_001288995:exon4:c.125_126insGGCCATGGC:p.V42delinsVAMA,IFI27:NM_001288957:exon4:c.125_126insGGCCATGGC:p.V42delinsVAMA,IFI27:NM_001288958:exon4:c.125_126insGGCCATGGC:p.V42delinsVAMA,IFI27:NM_001288954:exon5:c.125_126insGGCCATGGC:p.V42delinsVAMA,IFI27:NM_005532:exon4:c.125_126insGGCCATGGC:p.V42delinsVAMA, chr14 94582130 94582130 - GGCCATGGC het . 2 +line29949 nonsynonymous SNV SERPINA10:NM_001100607:exon2:c.A137G:p.K46R,SERPINA10:NM_016186:exon2:c.A137G:p.K46R, chr14 94756794 94756794 T C het . 18 +line29950 nonsynonymous SNV SERPINA4:NM_006215:exon3:c.T778C:p.Y260H,SERPINA4:NM_001289033:exon3:c.T778C:p.Y260H,SERPINA4:NM_001289032:exon3:c.T889C:p.Y297H, chr14 95033435 95033435 T C het . 21 +line29951 synonymous SNV SERPINA4:NM_006215:exon5:c.G1275A:p.T425T,SERPINA4:NM_001289033:exon5:c.G1275A:p.T425T,SERPINA4:NM_001289032:exon5:c.G1386A:p.T462T, chr14 95035923 95035923 G A het . 13 +line29986 nonsynonymous SNV BCL11B:NM_022898:exon3:c.T1514G:p.V505G,BCL11B:NM_001282237:exon4:c.T1724G:p.V575G,BCL11B:NM_138576:exon4:c.T1727G:p.V576G,BCL11B:NM_001282238:exon3:c.T1511G:p.V504G, chr14 99641446 99641446 A C het . 13 +line29987 nonframeshift deletion BCL11B:NM_022898:exon3:c.1414_1416del:p.472_472del,BCL11B:NM_001282237:exon4:c.1624_1626del:p.542_542del,BCL11B:NM_138576:exon4:c.1627_1629del:p.543_543del,BCL11B:NM_001282238:exon3:c.1411_1413del:p.471_471del, chr14 99641544 99641546 CTC - het . 14 +line29988 synonymous SNV BCL11B:NM_022898:exon3:c.C1308T:p.G436G,BCL11B:NM_001282237:exon4:c.C1518T:p.G506G,BCL11B:NM_138576:exon4:c.C1521T:p.G507G,BCL11B:NM_001282238:exon3:c.C1305T:p.G435G, chr14 99641652 99641652 G A het . 14 +line29991 nonsynonymous SNV HHIPL1:NM_001127258:exon9:c.T2075C:p.V692A, chr14 100141689 100141689 T C het . 1 +line29992 synonymous SNV CYP46A1:NM_006668:exon7:c.G645A:p.V215V, chr14 100173967 100173967 G A het . 13 +line30000 nonsynonymous SNV SLC25A47:NM_001350877:exon6:c.C328T:p.R110W,SLC25A47:NM_207117:exon6:c.C766T:p.R256W, chr14 100795821 100795821 C T het . 12 +line30003 synonymous SNV BEGAIN:NM_020836:exon7:c.G1068T:p.V356V,BEGAIN:NM_001159531:exon6:c.G1068T:p.V356V, chr14 101005020 101005020 C A het . 11 +line30004 nonsynonymous SNV DLK1:NM_001317172:exon4:c.A301G:p.R101G,DLK1:NM_003836:exon4:c.A301G:p.R101G, chr14 101198417 101198417 A G het . 7 +line30023 synonymous SNV DYNC1H1:NM_001376:exon71:c.C12867T:p.D4289D, chr14 102510793 102510793 C T het . 39 +line30026 synonymous SNV DYNC1H1:NM_001376:exon77:c.C13734T:p.S4578S, chr14 102516457 102516457 C T het . 32 +line30027 nonframeshift deletion HSP90AA1:NM_001017963:exon6:c.1202_1204del:p.401_402del,HSP90AA1:NM_005348:exon5:c.836_838del:p.279_280del, chr14 102551161 102551163 TCT - het . 32 +line30039 nonsynonymous SNV TECPR2:NM_001172631:exon7:c.G958A:p.V320I,TECPR2:NM_014844:exon7:c.G958A:p.V320I, chr14 102894593 102894593 G A het . 4 +line30040 synonymous SNV TECPR2:NM_001172631:exon9:c.C2337A:p.S779S,TECPR2:NM_014844:exon9:c.C2337A:p.S779S, chr14 102901491 102901491 C A het . 16 +line30041 nonsynonymous SNV TECPR2:NM_014844:exon18:c.T3809G:p.V1270G, chr14 102963335 102963335 T G het . 12 +line30071 nonsynonymous SNV APOPT1:NM_032374:exon4:c.C437A:p.T146K,APOPT1:NM_001302653:exon5:c.C525A:p.N175K,APOPT1:NM_001302652:exon4:c.C437A:p.T146K, chr14 104053623 104053623 C A het . 22 +line30077 synonymous SNV KLC1:NM_005552:exon13:c.C1611T:p.D537D,KLC1:NM_001130107:exon13:c.C1611T:p.D537D,KLC1:NM_182923:exon13:c.C1611T:p.D537D, chr14 104145843 104145843 C T het . 9 +line30079 stopgain XRCC3:NM_001100119:exon5:c.G175T:p.G59X,XRCC3:NM_005432:exon5:c.G175T:p.G59X,XRCC3:NM_001100118:exon4:c.G175T:p.G59X, chr14 104174877 104174877 C A het . 41 +line30090 stopgain ADSSL1:NM_152328:exon10:c.C967T:p.Q323X,ADSSL1:NM_001320424:exon10:c.C352T:p.Q118X,ADSSL1:NM_199165:exon10:c.C1096T:p.Q366X, chr14 105209422 105209422 C T het . 14 +line30096 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.T9788C:p.V3263A,AHNAK2:NM_138420:exon7:c.T10088C:p.V3363A, chr14 105411700 105411700 A G het . 44 +line30097 synonymous SNV AHNAK2:NM_001350929:exon7:c.A5478G:p.T1826T,AHNAK2:NM_138420:exon7:c.A5778G:p.T1926T, chr14 105416010 105416010 T C het . 13 +line30110 nonsynonymous SNV PACS2:NM_001100913:exon16:c.A1643C:p.Q548P,PACS2:NM_015197:exon16:c.A1631C:p.Q544P,PACS2:NM_001243127:exon16:c.A1406C:p.Q469P, chr14 105849713 105849713 A C het . 12 +line30111 nonsynonymous SNV PACS2:NM_001100913:exon16:c.A1651C:p.T551P,PACS2:NM_015197:exon16:c.A1639C:p.T547P,PACS2:NM_001243127:exon16:c.A1414C:p.T472P, chr14 105849721 105849721 A C het . 13 +line30112 nonsynonymous SNV PACS2:NM_001100913:exon16:c.T1658G:p.V553G,PACS2:NM_015197:exon16:c.T1646G:p.V549G,PACS2:NM_001243127:exon16:c.T1421G:p.V474G, chr14 105849728 105849728 T G het . 12 +line30279 nonsynonymous SNV GOLGA6L2:NM_001304388:exon8:c.G2147A:p.R716K, chr15 23685475 23685475 C T het . 9 +line30280 nonframeshift deletion GOLGA6L2:NM_001304388:exon8:c.1983_2024del:p.661_675del, chr15 23685598 23685639 GCATCTTCTCTTCCTGCTCCCACATCTTCTCCTCCTGCTCCC - het . 18 +line30281 nonsynonymous SNV GOLGA6L2:NM_001304388:exon8:c.G1894C:p.D632H, chr15 23685728 23685728 C G het . 59 +line30282 nonframeshift deletion GOLGA6L2:NM_001304388:exon8:c.1871_1873del:p.624_625del, chr15 23685749 23685751 CTC - het . 59 +line30283 nonframeshift insertion GOLGA6L2:NM_001304388:exon8:c.1699_1700insAAGCAGGAGGAGAAGATGCGG:p.G567delinsEAGGEDAG, chr15 23685922 23685922 - CCGCATCTTCTCCTCCTGCTT het . 26 +line30284 nonsynonymous SNV GOLGA6L2:NM_001304388:exon8:c.A1024G:p.K342E, chr15 23686598 23686598 T C het . 22 +line30285 nonsynonymous SNV GOLGA6L2:NM_001304388:exon8:c.C949T:p.R317W, chr15 23686673 23686673 G A het . 17 +line30306 nonsynonymous SNV UBE3A:NM_001354544:exon7:c.G87T:p.E29D,UBE3A:NM_001354513:exon6:c.G87T:p.E29D,UBE3A:NM_001354542:exon4:c.G87T:p.E29D,UBE3A:NM_001354506:exon7:c.G87T:p.E29D,UBE3A:NM_001354511:exon6:c.G87T:p.E29D,UBE3A:NM_001354508:exon6:c.G87T:p.E29D,UBE3A:NM_001354523:exon6:c.G87T:p.E29D,UBE3A:NM_001354548:exon3:c.G87T:p.E29D,UBE3A:NM_130838:exon3:c.G87T:p.E29D,UBE3A:NM_130839:exon5:c.G147T:p.E49D,UBE3A:NM_001354512:exon6:c.G87T:p.E29D,UBE3A:NM_001354538:exon6:c.G147T:p.E49D,UBE3A:NM_001354526:exon7:c.G87T:p.E29D,UBE3A:NM_001354545:exon5:c.G147T:p.E49D,UBE3A:NM_001354540:exon8:c.G87T:p.E29D,UBE3A:NM_001354551:exon3:c.G87T:p.E29D,UBE3A:NM_001354539:exon6:c.G87T:p.E29D,UBE3A:NM_001354543:exon9:c.G87T:p.E29D,UBE3A:NM_001354507:exon7:c.G87T:p.E29D,UBE3A:NM_001354547:exon6:c.G87T:p.E29D,UBE3A:NM_001354541:exon7:c.G87T:p.E29D,UBE3A:NM_001354509:exon7:c.G87T:p.E29D,UBE3A:NM_001354550:exon5:c.G147T:p.E49D,UBE3A:NM_000462:exon6:c.G156T:p.E52D,UBE3A:NM_001354505:exon5:c.G147T:p.E49D,UBE3A:NM_001354549:exon3:c.G87T:p.E29D, chr15 25620826 25620826 C A het . 21 +line30350 nonsynonymous SNV TJP1:NM_001301025:exon29:c.G5492T:p.G1831V,TJP1:NM_001355014:exon28:c.G5174T:p.G1725V,TJP1:NM_001355015:exon27:c.G4973T:p.G1658V,TJP1:NM_003257:exon28:c.G5153T:p.C1718F,TJP1:NM_001330239:exon28:c.G5213T:p.G1738V,TJP1:NM_001355012:exon29:c.G5432T:p.C1811F,TJP1:NM_175610:exon27:c.G4913T:p.C1638F,TJP1:NM_001355013:exon28:c.G5186T:p.G1729V,TJP1:NM_001301026:exon28:c.G4985T:p.G1662V, chr15 29993893 29993893 C A het . 28 +line30367 nonsynonymous SNV TRPM1:NM_001252020:exon22:c.G3053T:p.S1018I,TRPM1:NM_002420:exon22:c.G2936T:p.S979I,TRPM1:NM_001252024:exon23:c.G3002T:p.S1001I, chr15 31323311 31323311 C A het . 27 +line30383 synonymous SNV FMN1:NM_001103184:exon4:c.C2001T:p.P667P,FMN1:NM_001277313:exon8:c.C2670T:p.P890P, chr15 33261232 33261232 G A het . 3 +line30389 synonymous SNV RYR3:NM_001036:exon13:c.C1269T:p.S423S,RYR3:NM_001243996:exon13:c.C1269T:p.S423S, chr15 33872177 33872177 C T het . 2 +line30413 nonsynonymous SNV NUTM1:NM_001284293:exon7:c.C3048A:p.D1016E,NUTM1:NM_001284292:exon8:c.C3078A:p.D1026E,NUTM1:NM_175741:exon8:c.C2994A:p.D998E, chr15 34649287 34649287 C A het . 22 +line30467 synonymous SNV FSIP1:NM_001324338:exon11:c.G1572A:p.S524S,FSIP1:NM_152597:exon11:c.G1572A:p.S524S, chr15 39910063 39910063 C T het . 42 +line30481 nonsynonymous SNV SRP14:NM_001309434:exon6:c.C226G:p.P76A,SRP14:NM_003134:exon5:c.C370G:p.P124A, chr15 40328575 40328575 G C het . 25 +line30500 synonymous SNV VPS18:NM_020857:exon4:c.A765C:p.P255P, chr15 41191781 41191781 A C het . 20 +line30514 nonsynonymous SNV TYRO3:NM_001330264:exon17:c.G1870T:p.V624L,TYRO3:NM_006293:exon17:c.G2005T:p.V669L, chr15 41865525 41865525 G T het . 6 +line30517 nonsynonymous SNV SPTBN5:NM_016642:exon59:c.C10040T:p.A3347V, chr15 42145586 42145586 G A het . 6 +line30518 nonsynonymous SNV SPTBN5:NM_016642:exon58:c.C9824G:p.A3275G, chr15 42145936 42145936 G C het . 10 +line30544 nonsynonymous SNV EPB42:NM_000119:exon2:c.C101A:p.A34D,EPB42:NM_001114134:exon2:c.C11A:p.A4D, chr15 43508651 43508651 G T het . 23 +line30547 nonsynonymous SNV TGM7:NM_052955:exon6:c.C743T:p.S248F, chr15 43579600 43579600 G A het . 14 +line30549 nonsynonymous SNV TUBGCP4:NM_001286414:exon14:c.G1576C:p.D526H,TUBGCP4:NM_014444:exon14:c.G1573C:p.D525H, chr15 43692396 43692396 G C het . 16 +line30564 nonframeshift deletion EIF3J:NM_001284335:exon1:c.3_5del:p.1_2del,EIF3J:NM_001284336:exon1:c.3_5del:p.1_2del,EIF3J:NM_003758:exon1:c.3_5del:p.1_2del, chr15 44829395 44829397 GGC - het . 11 +line30570 nonsynonymous SNV B2M:NM_004048:exon2:c.C270A:p.F90L, chr15 45007823 45007823 C A het . 33 +line30573 nonsynonymous SNV TRIM69:NM_080745:exon6:c.C555A:p.S185R,TRIM69:NM_001301145:exon6:c.C369A:p.S123R,TRIM69:NM_001301144:exon6:c.C420A:p.S140R,TRIM69:NM_001301146:exon5:c.C321A:p.S107R,TRIM69:NM_182985:exon7:c.C1032A:p.S344R, chr15 45059499 45059499 C A het . 21 +line30578 nonsynonymous SNV DUOXA1:NM_144565:exon6:c.T323G:p.V108G,DUOXA1:NM_001276264:exon6:c.T323G:p.V108G,DUOXA1:NM_001276266:exon3:c.T323G:p.V108G, chr15 45413302 45413302 A C het . 6 +line30579 synonymous SNV DUOXA1:NM_144565:exon6:c.T318G:p.G106G,DUOXA1:NM_001276264:exon6:c.T318G:p.G106G,DUOXA1:NM_001276266:exon3:c.T318G:p.G106G, chr15 45413307 45413307 A C het . 7 +line30588 synonymous SNV SQOR:NM_021199:exon9:c.G1197A:p.P399P,SQOR:NM_001271213:exon10:c.G1197A:p.P399P, chr15 45981317 45981317 G A het . 18 +line30636 nonsynonymous SNV SLC27A2:NM_003645:exon5:c.G1148C:p.R383T,SLC27A2:NM_001159629:exon4:c.G989C:p.R330T, chr15 50515337 50515337 G C het . 12 +line30651 nonsynonymous SNV DMXL2:NM_001174117:exon41:c.G7184T:p.R2395I,DMXL2:NM_001174116:exon43:c.G9095T:p.R3032I,DMXL2:NM_015263:exon43:c.G9092T:p.R3031I, chr15 51741200 51741200 C A het . 25 +line30663 nonsynonymous SNV MAPK6:NM_002748:exon2:c.C185A:p.A62D, chr15 52338842 52338842 C A het . 25 +line30667 nonsynonymous SNV BCL2L10:NM_001306168:exon1:c.T62G:p.L21R,BCL2L10:NM_020396:exon1:c.T62G:p.L21R, chr15 52404862 52404862 A C het . 8 +line30675 nonsynonymous SNV MYO5A:NM_000259:exon37:c.G4766T:p.C1589F,MYO5A:NM_001142495:exon36:c.G4685T:p.C1562F, chr15 52613666 52613666 C A het . 48 +line30678 nonsynonymous SNV MYO5A:NM_000259:exon30:c.G3925T:p.A1309S,MYO5A:NM_001142495:exon30:c.G3925T:p.A1309S, chr15 52638592 52638592 C A het . 41 +line30683 synonymous SNV MYO5A:NM_000259:exon19:c.G2343T:p.L781L,MYO5A:NM_001142495:exon19:c.G2343T:p.L781L, chr15 52668621 52668621 C A het . 41 +line30722 synonymous SNV PIGB:NM_004855:exon5:c.G537A:p.L179L, chr15 55621936 55621936 G A het . 9 +line30726 frameshift deletion DNAAF4:NM_001033559:exon5:c.523delA:p.I175fs,DNAAF4:NM_130810:exon5:c.523delA:p.I175fs,DNAAF4:NM_001033560:exon5:c.523delA:p.I175fs, chr15 55759242 55759242 T - het . 37 +line30732 nonsynonymous SNV NEDD4:NM_001284338:exon1:c.A1219C:p.N407H,NEDD4:NM_198400:exon1:c.A1219C:p.N407H,NEDD4:NM_001284340:exon1:c.A1219C:p.N407H,NEDD4:NM_001284339:exon1:c.A1219C:p.N407H, chr15 56207811 56207811 T G het . 24 +line30736 nonsynonymous SNV RFX7:NM_022841:exon9:c.G3754T:p.V1252F, chr15 56386172 56386172 C A het . 28 +line30767 nonsynonymous SNV POLR2M:NM_015532:exon1:c.G87T:p.K29N,POLR2M:NM_001018102:exon1:c.G87T:p.K29N, chr15 57999127 57999127 G T het . 11 +line30768 stopgain ALDH1A2:NM_170696:exon10:c.G1216T:p.G406X,ALDH1A2:NM_001206897:exon12:c.G1267T:p.G423X,ALDH1A2:NM_170697:exon9:c.G1042T:p.G348X,ALDH1A2:NM_003888:exon11:c.G1330T:p.G444X, chr15 58253414 58253414 C A het . 43 +line30776 synonymous SNV MINDY2:NM_001040453:exon1:c.C828A:p.L276L,MINDY2:NM_001040450:exon1:c.C828A:p.L276L, chr15 59064422 59064422 C A het . 12 +line30812 nonsynonymous SNV ICE2:NM_001276385:exon5:c.A416G:p.K139R,ICE2:NM_024611:exon5:c.A416G:p.K139R,ICE2:NM_001018089:exon5:c.A5G:p.K2R, chr15 60758905 60758905 T C het . 14 +line30826 nonsynonymous SNV VPS13C:NM_020821:exon61:c.T8366C:p.I2789T,VPS13C:NM_017684:exon59:c.T8237C:p.I2746T,VPS13C:NM_018080:exon59:c.T8237C:p.I2746T,VPS13C:NM_001018088:exon61:c.T8366C:p.I2789T, chr15 62207911 62207911 A G het . 10 +line30842 nonsynonymous SNV TLN2:NM_015059:exon55:c.C7407A:p.D2469E, chr15 63131087 63131087 C A het . 18 +line30863 nonsynonymous SNV DAPK2:NM_001363730:exon10:c.G1071T:p.Q357H, chr15 64215330 64215330 C A het . 21 +line30873 stopgain CSNK1G1:NM_001329605:exon11:c.G1120T:p.E374X, chr15 64480672 64480672 C A het . 21 +line30878 synonymous SNV ZNF609:NM_015042:exon2:c.C828T:p.P276P, chr15 64915106 64915106 C T het . 28 +line30879 nonsynonymous SNV ZNF609:NM_015042:exon2:c.C835A:p.Q279K, chr15 64915113 64915113 C A het . 27 +line30881 nonsynonymous SNV ZNF609:NM_015042:exon6:c.C3910A:p.Q1304K, chr15 64972524 64972524 C A het . 18 +line30904 nonsynonymous SNV UBAP1L:NM_001163692:exon1:c.G113T:p.G38V, chr15 65398441 65398441 C A het . 7 +line30907 synonymous SNV IGDCC3:NM_004884:exon13:c.A2076G:p.L692L, chr15 65621857 65621857 T C het . 3 +line30939 nonsynonymous SNV ITGA11:NM_001004439:exon11:c.G1220A:p.R407H, chr15 68631894 68631894 C T het . 12 +line30966 nonsynonymous SNV UACA:NM_001008224:exon7:c.G457T:p.D153Y,UACA:NM_018003:exon7:c.G496T:p.D166Y, chr15 70979985 70979985 C A het . 19 +line30978 stopgain MYO9A:NM_006901:exon29:c.G5605T:p.E1869X, chr15 72172693 72172693 C A het . 16 +line30981 nonsynonymous SNV MYO9A:NM_006901:exon25:c.T4444C:p.S1482P, chr15 72190400 72190400 A G het . 40 +line31006 nonsynonymous SNV BBS4:NM_033028:exon3:c.A137G:p.K46R,BBS4:NM_001320665:exon3:c.A137G:p.K46R, chr15 73002101 73002101 A G het . 36 +line31014 nonsynonymous SNV REC114:NM_001042367:exon5:c.G598A:p.A200T,REC114:NM_001348772:exon4:c.G514A:p.A172T, chr15 73848694 73848694 G A het . 18 +line31023 nonsynonymous SNV STRA6:NM_001142617:exon14:c.G1223A:p.R408Q,STRA6:NM_001199040:exon14:c.G1334A:p.R445Q,STRA6:NM_001142618:exon14:c.G1223A:p.R408Q,STRA6:NM_001199041:exon14:c.G1268A:p.R423Q,STRA6:NM_001199042:exon14:c.G1340A:p.R447Q,STRA6:NM_001142619:exon14:c.G1196A:p.R399Q,STRA6:NM_022369:exon14:c.G1223A:p.R408Q, chr15 74476274 74476274 C T het . 25 +line31026 nonframeshift deletion CCDC33:NM_025055:exon2:c.97_99del:p.33_33del, chr15 74536401 74536403 AAG - het . 9 +line31031 nonsynonymous SNV CYP1A1:NM_001319217:exon7:c.C1390A:p.R464S,CYP1A1:NM_001319216:exon6:c.C1303A:p.R435S,CYP1A1:NM_000499:exon7:c.C1390A:p.R464S, chr15 75012979 75012979 G T het . 8 +line31033 nonframeshift deletion CPLX3:NM_001030005:exon3:c.340_342del:p.114_114del, chr15 75122558 75122560 GAG - het . 25 +line31045 nonsynonymous SNV SIN3A:NM_001145357:exon15:c.G2290T:p.A764S,SIN3A:NM_015477:exon15:c.G2290T:p.A764S,SIN3A:NM_001145358:exon15:c.G2290T:p.A764S, chr15 75685144 75685144 C A het . 6 +line31060 nonframeshift substitution PSTPIP1:NM_003978:exon15:c.1176_1177AA,PSTPIP1:NM_001321136:exon16:c.1149_1150AA,PSTPIP1:NM_001321135:exon14:c.1119_1120AA,PSTPIP1:NM_001321137:exon16:c.1371_1372AA, chr15 77329442 77329443 GG AA het . 15 +line31076 nonsynonymous SNV SH2D7:NM_001101404:exon1:c.G82A:p.E28K, chr15 78385008 78385008 G A het . 19 +line31086 nonsynonymous SNV CHRNB4:NM_000750:exon5:c.G407A:p.R136Q, chr15 78922240 78922240 C T het . 5 +line31093 nonsynonymous SNV RASGRF1:NM_002891:exon23:c.A3254C:p.H1085P,RASGRF1:NM_001145648:exon22:c.A3206C:p.H1069P,RASGRF1:NM_153815:exon9:c.A902C:p.H301P, chr15 79282541 79282541 T G het . 20 +line31095 nonframeshift deletion ANKRD34C:NM_001146341:exon2:c.1067_1069del:p.356_357del, chr15 79586693 79586695 GTG - het . 18 +line31097 nonsynonymous SNV ST20:NM_001100879:exon3:c.A233T:p.Y78F,ST20:NM_001199757:exon3:c.A233T:p.Y78F,ST20:NM_001100880:exon3:c.A233T:p.Y78F, chr15 80191280 80191280 T A het . 16 +line31112 synonymous SNV CFAP161:NM_173528:exon3:c.T261G:p.R87R,CFAP161:NM_001353365:exon3:c.T261G:p.R87R, chr15 81428958 81428958 T G het . 32 +line31131 stopgain C15orf40:NM_001160113:exon3:c.395delT:p.L132X, chr15 83677271 83677271 A - het . 20 +line31144 nonsynonymous SNV AKAP13:NM_007200:exon7:c.C1204A:p.Q402K,AKAP13:NM_006738:exon7:c.C1204A:p.Q402K, chr15 86122503 86122503 C A het . 23 +line31163 stopgain MRPL46:NM_022163:exon4:c.G775T:p.E259X, chr15 89002909 89002909 C A het . 14 +line31166 synonymous SNV AEN:NM_022767:exon3:c.G642C:p.T214T, chr15 89172558 89172558 G C het . 19 +line31167 nonsynonymous SNV AEN:NM_022767:exon4:c.G851A:p.C284Y, chr15 89173398 89173398 G A het . 15 +line31168 synonymous SNV ACAN:NM_013227:exon10:c.T1809C:p.A603A,ACAN:NM_001135:exon10:c.T1809C:p.A603A, chr15 89392745 89392745 T C het . 2 +line31181 nonsynonymous SNV FANCI:NM_001113378:exon24:c.C2518T:p.R840C, chr15 89838207 89838207 C T het . 25 +line31182 synonymous SNV FANCI:NM_001113378:exon24:c.G2547A:p.K849K, chr15 89838236 89838236 G A het . 21 +line31188 nonsynonymous SNV POLG:NM_002693:exon3:c.G774T:p.Q258H,POLG:NM_001126131:exon3:c.G774T:p.Q258H, chr15 89873393 89873393 C A het . 25 +line31189 nonframeshift deletion POLG:NM_002693:exon2:c.156_158del:p.52_53del,POLG:NM_001126131:exon2:c.156_158del:p.52_53del, chr15 89876828 89876830 TGC - het . 27 +line31190 nonsynonymous SNV RHCG:NM_001321041:exon2:c.C236T:p.T79I,RHCG:NM_016321:exon2:c.C236T:p.T79I, chr15 90030165 90030165 G A het . 8 +line31195 nonsynonymous SNV TICRR:NM_001308025:exon3:c.T1126G:p.L376V,TICRR:NM_152259:exon3:c.T1129G:p.L377V, chr15 90127711 90127711 T G het . 10 +line31199 nonsynonymous SNV TICRR:NM_001308025:exon17:c.C2999A:p.S1000Y,TICRR:NM_152259:exon17:c.C3002A:p.S1001Y, chr15 90161424 90161424 C A het . 27 +line31201 nonsynonymous SNV WDR93:NM_001284395:exon2:c.C100A:p.P34T,WDR93:NM_001284396:exon2:c.C100A:p.P34T,WDR93:NM_020212:exon2:c.C100A:p.P34T, chr15 90245077 90245077 C A het . 30 +line31205 synonymous SNV ZNF710:NM_198526:exon2:c.C438A:p.G146G, chr15 90610807 90610807 C A het . 15 +line31235 synonymous SNV FAM174B:NM_207446:exon1:c.T219C:p.S73S, chr15 93198671 93198671 A G het . 18 +line31236 nonframeshift deletion FAM174B:NM_207446:exon1:c.206_211del:p.69_71del, chr15 93198679 93198684 TGGAGC - het . 17 +line31308 unknown UNKNOWN chr15 99671760 99671760 T C het . 17 +line31309 unknown UNKNOWN chr15 99671775 99671775 C T het . 17 +line31311 synonymous SNV TTC23:NM_001288615:exon10:c.T768C:p.L256L,TTC23:NM_001353869:exon9:c.T768C:p.L256L,TTC23:NM_001288616:exon8:c.T768C:p.L256L, chr15 99715352 99715352 A G het . 25 +line31326 nonsynonymous SNV LINS1:NM_001040616:exon7:c.G1462T:p.G488C,LINS1:NM_001352507:exon8:c.G715T:p.G239C,LINS1:NM_001352508:exon7:c.G1309T:p.G437C, chr15 101110255 101110255 C A het . 24 +line31328 nonsynonymous SNV LINS1:NM_001040616:exon5:c.G1216A:p.V406M,LINS1:NM_001352507:exon6:c.G469A:p.V157M,LINS1:NM_001352508:exon5:c.G1171A:p.V391M, chr15 101113862 101113862 C T het . 10 +line31349 nonsynonymous SNV TM2D3:NM_025141:exon1:c.T17G:p.L6R,TM2D3:NM_001307960:exon1:c.T17G:p.L6R,TM2D3:NM_078474:exon1:c.T17G:p.L6R,TM2D3:NM_001308026:exon1:c.T17G:p.L6R, chr15 102192548 102192548 A C het . 8 +line31352 nonsynonymous SNV OR4F15:NM_001001674:exon1:c.C340A:p.L114M, chr15 102358729 102358729 C A het . 14 +line31359 synonymous SNV HBM:NM_001003938:exon3:c.T312C:p.C104C, chr16 216593 216593 T C het . 19 +line31361 synonymous SNV PDIA2:NM_006849:exon9:c.G1347A:p.T449T, chr16 336660 336660 G A het . 12 +line31362 synonymous SNV NME4:NM_001286439:exon5:c.G150A:p.S50S,NME4:NM_001286436:exon4:c.G150A:p.S50S,NME4:NM_001286438:exon5:c.G150A:p.S50S,NME4:NM_005009:exon4:c.G360A:p.S120S,NME4:NM_001286433:exon3:c.G258A:p.S86S,NME4:NM_001286435:exon4:c.G360A:p.S120S,NME4:NM_001286440:exon4:c.G150A:p.S50S, chr16 449659 449659 G A het . 3 +line31368 synonymous SNV CACNA1H:NM_001005407:exon20:c.G4023A:p.A1341A,CACNA1H:NM_021098:exon20:c.G4023A:p.A1341A, chr16 1260636 1260636 G A het . 11 +line31370 synonymous SNV TPSG1:NM_012467:exon6:c.A816G:p.S272S, chr16 1271938 1271938 T C het . 3 +line31371 nonsynonymous SNV TPSG1:NM_012467:exon5:c.G578A:p.R193H, chr16 1272275 1272275 C T het . 4 +line31372 synonymous SNV TPSD1:NM_012217:exon3:c.C375T:p.T125T, chr16 1306918 1306918 C T het . 27 +line31373 synonymous SNV TPSD1:NM_012217:exon3:c.G378A:p.G126G, chr16 1306921 1306921 G A het . 26 +line31374 synonymous SNV TPSD1:NM_012217:exon3:c.C384T:p.D128D, chr16 1306927 1306927 C T het . 22 +line31382 nonsynonymous SNV PTX4:NM_001328608:exon2:c.G420T:p.R140S,PTX4:NM_001013658:exon2:c.G405T:p.R135S, chr16 1537693 1537693 C A het . 2 +line31386 synonymous SNV IFT140:NM_014714:exon23:c.C2919T:p.A973A, chr16 1574863 1574863 G A het . 4 +line31393 nonframeshift substitution HS3ST6:NM_001009606:exon2:c.573_574TA, chr16 1962046 1962047 CG TA het . 1 +line31398 nonsynonymous SNV GFER:NM_005262:exon3:c.C580A:p.R194S, chr16 2035991 2035991 C A het . 20 +line31399 nonsynonymous SNV NPW:NM_001099456:exon1:c.G298C:p.E100Q, chr16 2070200 2070200 G C het . 11 +line31403 nonsynonymous SNV BRICD5:NM_182563:exon2:c.G136A:p.V46I, chr16 2260567 2260567 C T het . 6 +line31404 nonsynonymous SNV BRICD5:NM_182563:exon2:c.A91G:p.S31G, chr16 2260612 2260612 T C het . 5 +line31411 synonymous SNV SRRM2:NM_016333:exon11:c.C2118T:p.S706S, chr16 2812647 2812647 C T het . 25 +line31412 synonymous SNV SRRM2:NM_016333:exon11:c.T7632C:p.S2544S, chr16 2818161 2818161 T C het . 15 +line31430 synonymous SNV ZSCAN10:NM_001282416:exon5:c.G1224A:p.T408T,ZSCAN10:NM_001282415:exon5:c.G453A:p.T151T,ZSCAN10:NM_032805:exon6:c.G1635A:p.T545T, chr16 3139800 3139800 C T het . 13 +line31431 nonsynonymous SNV ZSCAN10:NM_001282416:exon5:c.A784C:p.T262P,ZSCAN10:NM_001282415:exon5:c.A13C:p.T5P,ZSCAN10:NM_032805:exon6:c.A1195C:p.T399P, chr16 3140240 3140240 T G het . 13 +line31436 nonsynonymous SNV OR1F1:NM_012360:exon1:c.T224C:p.F75S, chr16 3254470 3254470 T C het . 38 +line31437 stopgain MEFV:NM_000243:exon10:c.G2287T:p.G763X, chr16 3293200 3293200 C A het . 22 +line31443 nonsynonymous SNV C16orf90:NM_001080524:exon2:c.G344A:p.S115N,C16orf90:NM_001353384:exon2:c.G83A:p.S28N,C16orf90:NM_001353382:exon2:c.G323A:p.S108N,C16orf90:NM_001353385:exon2:c.G83A:p.S28N,C16orf90:NM_001353383:exon2:c.G83A:p.S28N, chr16 3544580 3544580 C T het . 9 +line31444 nonsynonymous SNV CLUAP1:NM_001330454:exon9:c.T917C:p.L306P,CLUAP1:NM_024793:exon5:c.T419C:p.L140P,CLUAP1:NM_015041:exon9:c.T917C:p.L306P, chr16 3576473 3576473 T C het . 18 +line31449 nonsynonymous SNV CREBBP:NM_004380:exon16:c.G3069T:p.E1023D,CREBBP:NM_001079846:exon15:c.G2955T:p.E985D, chr16 3817902 3817902 C A het . 56 +line31454 nonsynonymous SNV ADCY9:NM_001116:exon11:c.C3052T:p.R1018C, chr16 4016786 4016786 G A het . 17 +line31466 synonymous SNV GLIS2:NM_032575:exon6:c.T1041C:p.Y347Y,GLIS2:NM_001318918:exon8:c.T1041C:p.Y347Y, chr16 4386991 4386991 T C het . 17 +line31469 nonsynonymous SNV CORO7-PAM16:NM_001201479:exon28:c.G2841T:p.L947F,PAM16:NM_016069:exon2:c.G72T:p.L24F, chr16 4393224 4393224 C A het . 23 +line31472 synonymous SNV VASN:NM_138440:exon2:c.T600G:p.A200A, chr16 4431478 4431478 T G het . 23 +line31491 nonsynonymous SNV C16orf71:NM_139170:exon7:c.A1061G:p.Q354R, chr16 4796393 4796393 A G het . 6 +line31492 synonymous SNV C16orf71:NM_139170:exon7:c.G1086A:p.P362P, chr16 4796418 4796418 G A het . 12 +line31608 synonymous SNV METTL22:NM_024109:exon9:c.C918T:p.D306D, chr16 8736330 8736330 C T het . 20 +line31627 synonymous SNV ABAT:NM_000663:exon11:c.C708A:p.I236I,ABAT:NM_020686:exon11:c.C708A:p.I236I,ABAT:NM_001127448:exon11:c.C708A:p.I236I, chr16 8862722 8862722 C A het . 41 +line31645 synonymous SNV C16orf72:NM_014117:exon1:c.C156A:p.P52P, chr16 9186057 9186057 C A het . 37 +line31668 synonymous SNV GRIN2A:NM_000833:exon3:c.G195T:p.L65L,GRIN2A:NM_001134408:exon2:c.G195T:p.L65L,GRIN2A:NM_001134407:exon2:c.G195T:p.L65L, chr16 10274074 10274074 C A het . 38 +line31682 nonframeshift deletion ATF7IP2:NM_001256160:exon4:c.180_182del:p.60_61del,ATF7IP2:NM_001352120:exon4:c.180_182del:p.60_61del,ATF7IP2:NM_024997:exon3:c.180_182del:p.60_61del, chr16 10524657 10524659 GAC - het . 61 +line31712 synonymous SNV PRM1:NM_002761:exon2:c.C139A:p.R47R, chr16 11374866 11374866 G T het . 48 +line31724 synonymous SNV SNN:NM_003498:exon2:c.C33T:p.G11G, chr16 11769948 11769948 C T het . 15 +line31725 synonymous SNV SNN:NM_003498:exon2:c.C48T:p.I16I, chr16 11769963 11769963 C T het . 17 +line31730 nonsynonymous SNV RSL1D1:NM_015659:exon8:c.G955T:p.D319Y, chr16 11933743 11933743 C A het . 51 +line31735 synonymous SNV NPIPB2:NM_001355514:exon9:c.G618A:p.E206E, chr16 12021284 12021284 C T het . 38 +line31736 nonsynonymous SNV NPIPB2:NM_001355514:exon9:c.T610C:p.S204P, chr16 12021292 12021292 A G het . 39 +line31737 nonframeshift deletion NPIPB2:NM_001355514:exon9:c.604_606del:p.202_202del, chr16 12021296 12021298 TGG - het . 38 +line31738 synonymous SNV NPIPB2:NM_001355514:exon9:c.C570T:p.P190P, chr16 12021332 12021332 G A het . 35 +line31745 nonsynonymous SNV SNX29:NM_032167:exon15:c.C1774A:p.L592I, chr16 12371885 12371885 C A het . 25 +line31792 nonsynonymous SNV PARN:NM_001242992:exon23:c.C1775T:p.T592I,PARN:NM_002582:exon24:c.C1913T:p.T638I,PARN:NM_001134477:exon24:c.C1730T:p.T577I, chr16 14530581 14530581 G A het . 14 +line31795 nonsynonymous SNV PARN:NM_001242992:exon18:c.C1159G:p.L387V,PARN:NM_002582:exon19:c.C1297G:p.L433V,PARN:NM_001134477:exon19:c.C1114G:p.L372V, chr16 14649532 14649532 G C het . 23 +line31809 synonymous SNV RRN3:NM_018427:exon9:c.C675T:p.Y225Y,RRN3:NM_001301064:exon8:c.C585T:p.Y195Y, chr16 15173945 15173945 G A het . 6 +line31831 synonymous SNV FOPNL:NM_001304499:exon6:c.A543G:p.E181E,FOPNL:NM_144600:exon5:c.A471G:p.E157E,FOPNL:NM_001304497:exon3:c.A249G:p.E83E,FOPNL:NM_001304500:exon4:c.A273G:p.E91E, chr16 15961351 15961351 T C het . 19 +line31832 nonsynonymous SNV FOPNL:NM_001304499:exon6:c.G538A:p.E180K,FOPNL:NM_144600:exon5:c.G466A:p.E156K,FOPNL:NM_001304497:exon3:c.G244A:p.E82K,FOPNL:NM_001304500:exon4:c.G268A:p.E90K, chr16 15961356 15961356 C T het . 20 +line31833 synonymous SNV FOPNL:NM_001304499:exon6:c.C525T:p.D175D,FOPNL:NM_144600:exon5:c.C453T:p.D151D,FOPNL:NM_001304497:exon3:c.C231T:p.D77D,FOPNL:NM_001304500:exon4:c.C255T:p.D85D, chr16 15961369 15961369 G A het . 18 +line31834 nonframeshift insertion FOPNL:NM_001304499:exon5:c.506_507insTAG:p.R169delinsSR,FOPNL:NM_144600:exon4:c.434_435insTAG:p.R145delinsSR,FOPNL:NM_001304500:exon3:c.236_237insTAG:p.R79delinsSR, chr16 15967361 15967361 - CTA het . 20 +line31841 synonymous SNV ABCC1:NM_004996:exon13:c.T1684C:p.L562L, chr16 16162019 16162019 T C het . 13 +line31853 nonsynonymous SNV ABCC6:NM_001171:exon19:c.A2542G:p.M848V,ABCC6:NM_001351800:exon19:c.A2200G:p.M734V, chr16 16271357 16271357 T C het . 30 +line31889 synonymous SNV ITPRIPL2:NM_001034841:exon1:c.C595T:p.L199L, chr16 19126378 19126378 C T het . 13 +line31909 nonsynonymous SNV ACSM5:NM_001324371:exon8:c.G1022A:p.R341K,ACSM5:NM_001324372:exon8:c.G1022A:p.R341K,ACSM5:NM_017888:exon8:c.G1022A:p.R341K, chr16 20441020 20441020 G A het . 10 +line31921 nonsynonymous SNV DCUN1D3:NM_173475:exon2:c.G220T:p.D74Y, chr16 20873641 20873641 C A het . 22 +line31928 nonsynonymous SNV CRYM:NM_001888:exon4:c.G244T:p.D82Y, chr16 21288832 21288832 C A het . 26 +line31944 synonymous SNV VWA3A:NM_173615:exon29:c.G3066A:p.E1022E, chr16 22161189 22161189 G A het . 4 +line31959 synonymous SNV GGA2:NM_015044:exon1:c.C90G:p.L30L, chr16 23521643 23521643 G C het . 8 +line31960 nonsynonymous SNV PALB2:NM_024675:exon2:c.G90T:p.K30N, chr16 23649409 23649409 C A het . 31 +line31973 nonframeshift deletion TNRC6A:NM_001330520:exon5:c.333_344del:p.111_115del,TNRC6A:NM_001351850:exon5:c.360_371del:p.120_124del,TNRC6A:NM_014494:exon5:c.333_344del:p.111_115del, chr16 24788423 24788434 GCAGCCACAGCC - het . 31 +line31976 nonsynonymous SNV TNRC6A:NM_001330520:exon6:c.C934T:p.P312S,TNRC6A:NM_001351850:exon6:c.C961T:p.P321S,TNRC6A:NM_014494:exon6:c.C934T:p.P312S, chr16 24800897 24800897 C T het . 8 +line31977 nonsynonymous SNV TNRC6A:NM_001330520:exon6:c.C1505G:p.T502S,TNRC6A:NM_001351850:exon6:c.C1532G:p.T511S,TNRC6A:NM_014494:exon6:c.C1505G:p.T502S, chr16 24801468 24801468 C G het . 13 +line31978 nonsynonymous SNV TNRC6A:NM_001330520:exon14:c.C4001A:p.A1334E,TNRC6A:NM_001351850:exon14:c.C4028A:p.A1343E,TNRC6A:NM_014494:exon15:c.C4148A:p.A1383E, chr16 24816951 24816951 C A het . 13 +line31982 synonymous SNV SLC5A11:NM_001352236:exon10:c.G600A:p.P200P,SLC5A11:NM_001352235:exon11:c.G753A:p.P251P,SLC5A11:NM_001258413:exon9:c.G600A:p.P200P,SLC5A11:NM_052944:exon9:c.G792A:p.P264P,SLC5A11:NM_001352250:exon9:c.G711A:p.P237P,SLC5A11:NM_001352259:exon9:c.G600A:p.P200P,SLC5A11:NM_001352242:exon10:c.G792A:p.P264P,SLC5A11:NM_001352249:exon12:c.G600A:p.P200P,SLC5A11:NM_001352237:exon8:c.G495A:p.P165P,SLC5A11:NM_001258411:exon9:c.G687A:p.P229P,SLC5A11:NM_001352238:exon9:c.G687A:p.P229P,SLC5A11:NM_001352248:exon10:c.G792A:p.P264P,SLC5A11:NM_001258412:exon8:c.G582A:p.P194P, chr16 24902317 24902317 G A het . 30 +line32009 nonsynonymous SNV KDM8:NM_024773:exon7:c.G1001A:p.G334E,KDM8:NM_001145348:exon7:c.G1115A:p.G372E, chr16 27231721 27231721 G A het . 10 +line32011 synonymous SNV IL21R:NM_181078:exon7:c.C753T:p.A251A,IL21R:NM_181079:exon8:c.C819T:p.A273A,IL21R:NM_021798:exon7:c.C753T:p.A251A, chr16 27456565 27456565 C T het . 18 +line32012 nonsynonymous SNV IL21R:NM_181078:exon9:c.G1537A:p.E513K,IL21R:NM_181079:exon10:c.G1603A:p.E535K,IL21R:NM_021798:exon9:c.G1537A:p.E513K, chr16 27460524 27460524 G A het . 7 +line32013 nonsynonymous SNV GTF3C1:NM_001520:exon4:c.G616T:p.A206S,GTF3C1:NM_001286242:exon4:c.G616T:p.A206S, chr16 27549241 27549241 C A het . 15 +line32022 synonymous SNV SBK1:NM_001024401:exon2:c.C204T:p.D68D, chr16 28328916 28328916 C T het . 11 +line32023 nonsynonymous SNV APOBR:NM_018690:exon2:c.C1282G:p.P428A, chr16 28507644 28507644 C G het . 5 +line32026 nonsynonymous SNV SULT1A2:NM_177528:exon7:c.A704C:p.N235T,SULT1A2:NM_001054:exon7:c.A704C:p.N235T,SULT1A2:NM_001363863:exon5:c.A605C:p.N202T, chr16 28603655 28603655 T G het . 38 +line32033 synonymous SNV ATXN2L:NM_001308230:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_145714:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148414:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148416:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148415:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_017492:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_007245:exon10:c.A1239G:p.Q413Q, chr16 28842311 28842311 A G het . 8 +line32052 nonframeshift deletion TAOK2:NM_016151:exon12:c.1138_1140del:p.380_380del,TAOK2:NM_004783:exon12:c.1138_1140del:p.380_380del,TAOK2:NM_001252043:exon12:c.1138_1140del:p.380_380del, chr16 29994531 29994533 GAG - het . 13 +line32058 nonsynonymous SNV TBC1D10B:NM_015527:exon1:c.G633C:p.E211D, chr16 30380872 30380872 C G het . 5 +line32063 synonymous SNV SRCAP:NM_006662:exon34:c.G7755A:p.L2585L, chr16 30749116 30749116 G A het . 19 +line32070 synonymous SNV SETD1A:NM_014712:exon6:c.C726T:p.P242P, chr16 30975501 30975501 C T het . 21 +line32071 nonframeshift deletion SETD1A:NM_014712:exon14:c.4134_4136del:p.1378_1379del, chr16 30991241 30991243 CAG - het . 5 +line32093 nonsynonymous SNV SLC5A2:NM_003041:exon1:c.C100G:p.L34V, chr16 31494557 31494557 C G het . 32 +line32094 nonsynonymous SNV SLC5A2:NM_003041:exon1:c.C103A:p.L35M, chr16 31494560 31494560 C A het . 33 +line32440 stopgain ITFG1:NM_030790:exon15:c.G1570T:p.G524X,ITFG1:NM_001305002:exon15:c.G1231T:p.G411X, chr16 47196459 47196459 C A het . 5 +line32448 nonframeshift insertion TENT4B:NM_001040284:exon11:c.1715_1716insGTC:p.V572delinsVS,TENT4B:NM_001040285:exon11:c.1574_1575insGTC:p.V525delinsVS, chr16 50259156 50259156 - GTC het . 10 +line32452 synonymous SNV NOD2:NM_001293557:exon3:c.C1752T:p.A584A,NOD2:NM_022162:exon4:c.C1833T:p.A611A, chr16 50745655 50745655 C T het . 11 +line32460 nonsynonymous SNV SALL1:NM_001127892:exon2:c.A2555G:p.Q852R,SALL1:NM_002968:exon2:c.A2846G:p.Q949R, chr16 51173287 51173287 T C het . 28 +line32472 nonsynonymous SNV FTO:NM_001363903:exon2:c.C114A:p.F38L,FTO:NM_001363894:exon2:c.C114A:p.F38L,FTO:NM_001363899:exon2:c.C114A:p.F38L,FTO:NM_001363988:exon2:c.C114A:p.F38L,FTO:NM_001080432:exon2:c.C114A:p.F38L,FTO:NM_001363901:exon2:c.C114A:p.F38L,FTO:NM_001363891:exon2:c.C114A:p.F38L,FTO:NM_001363898:exon2:c.C114A:p.F38L,FTO:NM_001363900:exon2:c.C114A:p.F38L,FTO:NM_001363896:exon2:c.C114A:p.F38L, chr16 53844120 53844120 C A het . 28 +line32505 nonsynonymous SNV OGFOD1:NM_001324358:exon7:c.C595A:p.P199T,OGFOD1:NM_001324363:exon7:c.C760A:p.P254T,OGFOD1:NM_001324361:exon7:c.C595A:p.P199T,OGFOD1:NM_001324362:exon7:c.C340A:p.P114T,OGFOD1:NM_001324357:exon7:c.C757A:p.P253T,OGFOD1:NM_001324359:exon7:c.C469A:p.P157T,OGFOD1:NM_001324360:exon7:c.C469A:p.P157T,OGFOD1:NM_018233:exon7:c.C760A:p.P254T, chr16 56501179 56501179 C A het . 18 +line32506 synonymous SNV BBS2:NM_031885:exon17:c.C2139T:p.I713I, chr16 56518700 56518700 G A het . 29 +line32513 nonsynonymous SNV HERPUD1:NM_001272103:exon3:c.T274C:p.S92P,HERPUD1:NM_014685:exon3:c.T274C:p.S92P,HERPUD1:NM_001010989:exon3:c.T271C:p.S91P, chr16 56969361 56969361 T C het . 27 +line32518 nonsynonymous SNV NLRC5:NM_032206:exon2:c.A71C:p.D24A,NLRC5:NM_001330552:exon3:c.A71C:p.D24A, chr16 57054695 57054695 A C het . 28 +line32519 nonframeshift substitution NLRC5:NM_032206:exon14:c.2718_2719CG,NLRC5:NM_001330552:exon15:c.2718_2719CG, chr16 57071113 57071114 TA CG het . 17 +line32525 nonsynonymous SNV RSPRY1:NM_001305164:exon2:c.A170C:p.D57A,RSPRY1:NM_001305163:exon2:c.A170C:p.D57A,RSPRY1:NM_133368:exon2:c.A170C:p.D57A,RSPRY1:NM_001305182:exon2:c.A170C:p.D57A, chr16 57238740 57238740 A C het . 35 +line32527 nonsynonymous SNV COQ9:NM_020312:exon6:c.C649A:p.L217M, chr16 57492200 57492200 C A het . 33 +line32532 nonsynonymous SNV ADGRG1:NM_001290144:exon10:c.T757G:p.S253A,ADGRG1:NM_001145772:exon11:c.T1282G:p.S428A,ADGRG1:NM_001145774:exon11:c.T1282G:p.S428A,ADGRG1:NM_005682:exon11:c.T1282G:p.S428A,ADGRG1:NM_001145771:exon11:c.T1282G:p.S428A,ADGRG1:NM_001145770:exon11:c.T1282G:p.S428A,ADGRG1:NM_001145773:exon10:c.T1297G:p.S433A,ADGRG1:NM_001290142:exon10:c.T772G:p.S258A,ADGRG1:NM_001290143:exon10:c.T757G:p.S253A,ADGRG1:NM_201524:exon11:c.T1282G:p.S428A,ADGRG1:NM_201525:exon10:c.T1282G:p.S428A, chr16 57691399 57691399 T G het . 14 +line32538 nonsynonymous SNV ADGRG3:NM_170776:exon9:c.C1096A:p.L366I,ADGRG3:NM_001308360:exon8:c.C736A:p.L246I, chr16 57718058 57718058 C A het . 12 +line32590 nonsynonymous SNV CDH8:NM_001796:exon3:c.A282T:p.K94N, chr16 61935348 61935348 T A het . 14 +line32600 nonsynonymous SNV CDH11:NM_001797:exon10:c.C1424T:p.A475V,CDH11:NM_001308392:exon10:c.C1424T:p.A475V,CDH11:NM_001330576:exon9:c.C1046T:p.A349V, chr16 65005934 65005934 G A het . 18 +line32611 nonsynonymous SNV CDH5:NM_001795:exon12:c.G2005A:p.G669S, chr16 66436722 66436722 G A het . 13 +line32622 nonsynonymous SNV TERB1:NM_001136505:exon18:c.A1958G:p.Q653R, chr16 66792714 66792714 T C het . 11 +line32632 nonsynonymous SNV C16orf70:NM_001320540:exon7:c.C437A:p.A146D,C16orf70:NM_001320543:exon6:c.C353A:p.A118D,C16orf70:NM_025187:exon6:c.C437A:p.A146D,C16orf70:NM_001320542:exon7:c.C437A:p.A146D,C16orf70:NM_001320541:exon7:c.C437A:p.A146D, chr16 67166801 67166801 C A het . 7 +line32633 nonsynonymous SNV B3GNT9:NM_033309:exon2:c.G1010A:p.R337H, chr16 67183379 67183379 C T het . 5 +line32634 synonymous SNV B3GNT9:NM_033309:exon2:c.G702T:p.V234V, chr16 67183687 67183687 C A het . 16 +line32637 synonymous SNV ATP6V0D1:NM_004691:exon8:c.C1044T:p.I348I, chr16 67472443 67472443 G A het . 9 +line32638 nonframeshift deletion RANBP10:NM_020850:exon10:c.1254_1256del:p.418_419del,RANBP10:NM_001320239:exon9:c.1086_1088del:p.362_363del,RANBP10:NM_001320240:exon13:c.567_569del:p.189_190del,RANBP10:NM_001320238:exon9:c.903_905del:p.301_302del, chr16 67763279 67763281 GAG - het . 9 +line32641 nonframeshift deletion THAP11:NM_020457:exon1:c.367_369del:p.123_123del, chr16 67876824 67876826 CAG - het . 13 +line32642 nonframeshift insertion THAP11:NM_020457:exon1:c.372_373insCAGCAGCAGCAGCAGCAGCAA:p.Q124delinsQQQQQQQQ, chr16 67876829 67876829 - CAGCAGCAGCAGCAGCAGCAA het . 17 +line32643 nonsynonymous SNV EDC4:NM_014329:exon17:c.G1954A:p.E652K, chr16 67913976 67913976 G A het . 9 +line32644 nonsynonymous SNV CTRL:NM_001907:exon7:c.G659T:p.C220F, chr16 67963973 67963973 C A het . 9 +line32645 synonymous SNV DDX28:NM_018380:exon1:c.C1611G:p.P537P, chr16 68055495 68055495 G C het . 4 +line32655 nonsynonymous SNV CDH1:NM_004360:exon10:c.A1349T:p.Y450F,CDH1:NM_001317184:exon9:c.A1166T:p.Y389F, chr16 68849446 68849446 A T het . 30 +line32656 nonsynonymous SNV CDH1:NM_001317185:exon15:c.T841G:p.Y281D,CDH1:NM_004360:exon15:c.T2389G:p.Y797D,CDH1:NM_001317184:exon14:c.T2206G:p.Y736D,CDH1:NM_001317186:exon14:c.T424G:p.Y142D, chr16 68863650 68863650 T G het . 22 +line32671 nonframeshift deletion NFAT5:NM_001113178:exon13:c.3799_3801del:p.1267_1267del,NFAT5:NM_138713:exon13:c.3802_3804del:p.1268_1268del,NFAT5:NM_006599:exon12:c.3748_3750del:p.1250_1250del,NFAT5:NM_173215:exon13:c.3520_3522del:p.1174_1174del,NFAT5:NM_138714:exon14:c.3520_3522del:p.1174_1174del,NFAT5:NM_173214:exon13:c.3520_3522del:p.1174_1174del, chr16 69727530 69727532 CAG - het . 19 +line32680 nonsynonymous SNV AARS:NM_001605:exon18:c.G2430T:p.W810C, chr16 70287912 70287912 C A het . 29 +line32684 nonsynonymous SNV IL34:NM_001172771:exon4:c.T169C:p.Y57H,IL34:NM_152456:exon4:c.T169C:p.Y57H,IL34:NM_001172772:exon4:c.T169C:p.Y57H, chr16 70690511 70690511 T C het . 29 +line32690 nonsynonymous SNV HYDIN:NM_001198542:exon4:c.G350T:p.G117V,HYDIN:NM_001198543:exon4:c.G320T:p.G107V,HYDIN:NM_017558:exon4:c.G269T:p.G90V,HYDIN:NM_001270974:exon4:c.G269T:p.G90V, chr16 71212943 71212943 C A het . 12 +line32696 nonsynonymous SNV CHST4:NM_001166395:exon2:c.C1078T:p.R360C,CHST4:NM_005769:exon2:c.C1078T:p.R360C, chr16 71571658 71571658 C T het . 14 +line32697 nonsynonymous SNV MARVELD3:NM_001271329:exon1:c.G272A:p.R91Q,MARVELD3:NM_052858:exon1:c.G272A:p.R91Q,MARVELD3:NM_001017967:exon1:c.G272A:p.R91Q, chr16 71660404 71660404 G A het . 34 +line32698 nonsynonymous SNV MARVELD3:NM_052858:exon1:c.G322A:p.E108K,MARVELD3:NM_001017967:exon1:c.G322A:p.E108K, chr16 71660454 71660454 G A het . 26 +line32699 synonymous SNV MARVELD3:NM_001017967:exon3:c.C1185G:p.P395P, chr16 71674882 71674882 C G het . 6 +line32708 nonsynonymous SNV AP1G1:NM_001128:exon9:c.G917T:p.R306L,AP1G1:NM_001030007:exon10:c.G926T:p.R309L, chr16 71798254 71798254 C A het . 9 +line32714 nonframeshift deletion IST1:NM_001270977:exon7:c.688_693del:p.230_231del,IST1:NM_001270979:exon3:c.244_249del:p.82_83del,IST1:NM_001270975:exon7:c.688_693del:p.230_231del,IST1:NM_001270978:exon4:c.244_249del:p.82_83del,IST1:NM_014761:exon7:c.688_693del:p.230_231del,IST1:NM_001270976:exon8:c.727_732del:p.243_244del, chr16 71956512 71956517 ATGCCC - het . 11 +line32716 unknown UNKNOWN chr16 71981414 71981414 - TTTG het . 23 +line32717 unknown UNKNOWN chr16 71986946 71986946 A G het . 5 +line32725 frameshift deletion PMFBP1:NM_031293:exon7:c.917delA:p.K306fs,PMFBP1:NM_001160213:exon8:c.482delA:p.K161fs, chr16 72173189 72173189 T - het . 14 +line32730 nonsynonymous SNV ZFHX3:NM_001164766:exon8:c.G2068T:p.A690S,ZFHX3:NM_006885:exon9:c.G4810T:p.A1604S, chr16 72831771 72831771 C A het . 15 +line32732 synonymous SNV ZFHX3:NM_001164766:exon2:c.C225T:p.C75C,ZFHX3:NM_006885:exon3:c.C2967T:p.C989C, chr16 72984617 72984617 G A het . 22 +line32733 synonymous SNV ZFHX3:NM_001164766:exon2:c.G201T:p.G67G,ZFHX3:NM_006885:exon3:c.G2943T:p.G981G, chr16 72984641 72984641 C A het . 19 +line32734 synonymous SNV ZFHX3:NM_006885:exon2:c.G2385C:p.P795P, chr16 72991660 72991660 C G het . 30 +line32735 nonsynonymous SNV ZFHX3:NM_006885:exon2:c.T2330C:p.V777A, chr16 72991715 72991715 A G het . 25 +line32750 nonsynonymous SNV NPIPB15:NM_001306094:exon7:c.A902G:p.Y301C, chr16 74425548 74425548 A G het . 35 +line32751 nonsynonymous SNV NPIPB15:NM_001306094:exon7:c.C923T:p.P308L, chr16 74425569 74425569 C T het . 33 +line32773 nonsynonymous SNV CHST5:NM_024533:exon3:c.G354T:p.M118I, chr16 75563929 75563929 C A het . 23 +line32781 unknown UNKNOWN chr16 76311602 76311602 - T het . 20 +line32795 nonsynonymous SNV ADAMTS18:NM_199355:exon23:c.G3565A:p.V1189I,ADAMTS18:NM_001326358:exon23:c.G3049A:p.V1017I, chr16 77317954 77317954 C T het . 31 +line32798 synonymous SNV ADAMTS18:NM_199355:exon10:c.T1512C:p.Y504Y,ADAMTS18:NM_001326358:exon10:c.T996C:p.Y332Y, chr16 77387732 77387732 A G het . 25 +line32803 nonsynonymous SNV ADAMTS18:NM_199355:exon4:c.G523A:p.E175K,ADAMTS18:NM_001326358:exon4:c.G3A:p.M1I, chr16 77401593 77401593 C T het . 28 +line32874 unknown UNKNOWN chr16 81180978 81180978 C T het . 26 +line32875 unknown UNKNOWN chr16 81180988 81180988 C G het . 28 +line32877 frameshift deletion PKD1L2:NM_001076780:exon4:c.706_707del:p.N236fs, chr16 81242149 81242150 TT - het . 7 +line32878 synonymous SNV PKD1L2:NM_001076780:exon4:c.A705G:p.G235G, chr16 81242151 81242151 T C het . 7 +line32883 synonymous SNV CMIP:NM_198390:exon1:c.C48A:p.I16I, chr16 81478894 81478894 C A het . 16 +line32921 synonymous SNV CDH13:NM_001220491:exon5:c.C489A:p.T163T, chr16 83214480 83214480 C A het . 19 +line32929 synonymous SNV OSGIN1:NM_182981:exon6:c.C822G:p.A274A, chr16 83999000 83999000 C G het . 1 +line32930 nonsynonymous SNV NECAB2:NM_001329749:exon3:c.C100A:p.L34M,NECAB2:NM_001329748:exon3:c.C323A:p.S108Y,NECAB2:NM_019065:exon3:c.C323A:p.S108Y, chr16 84012145 84012145 C A het . 14 +line32937 nonsynonymous SNV DNAAF1:NM_001318756:exon4:c.C797T:p.P266L,DNAAF1:NM_178452:exon8:c.C1505T:p.P502L, chr16 84203939 84203939 C T het . 28 +line32938 nonsynonymous SNV TAF1C:NM_139353:exon15:c.G1621A:p.G541S,TAF1C:NM_001243156:exon15:c.G1825A:p.G609S,TAF1C:NM_001243158:exon11:c.G907A:p.G303S,TAF1C:NM_001243160:exon12:c.G472A:p.G158S,TAF1C:NM_001243159:exon14:c.G676A:p.G226S,TAF1C:NM_005679:exon14:c.G1903A:p.G635S,TAF1C:NM_001243157:exon12:c.G907A:p.G303S, chr16 84213254 84213254 C T het . 20 +line32939 synonymous SNV TAF1C:NM_139353:exon11:c.G828T:p.G276G,TAF1C:NM_001243156:exon11:c.G1029T:p.G343G,TAF1C:NM_001243158:exon7:c.G111T:p.G37G,TAF1C:NM_005679:exon10:c.G1107T:p.G369G,TAF1C:NM_001243157:exon8:c.G111T:p.G37G, chr16 84215069 84215069 C A het . 14 +line32940 synonymous SNV TAF1C:NM_001243156:exon2:c.A30G:p.A10A,TAF1C:NM_005679:exon2:c.A30G:p.A10A, chr16 84218565 84218565 T C het . 6 +line32941 nonsynonymous SNV ADAD2:NM_001145400:exon1:c.G131A:p.G44E,ADAD2:NM_139174:exon1:c.G131A:p.G44E, chr16 84224967 84224967 G A het . 4 +line32948 nonsynonymous SNV ATP2C2:NM_001286527:exon24:c.C2366G:p.A789G, chr16 84493144 84493144 C G het . 19 +line32951 synonymous SNV MEAK7:NM_020947:exon5:c.G903A:p.K301K, chr16 84520292 84520292 C T het . 6 +line32957 synonymous SNV CRISPLD2:NM_031476:exon4:c.C471T:p.P157P, chr16 84883102 84883102 C T het . 11 +line33007 nonsynonymous SNV ZNF469:NM_001127464:exon2:c.C10717A:p.L3573M, chr16 88504679 88504679 C A het . 16 +line33015 nonsynonymous SNV CTU2:NM_001318513:exon6:c.C295T:p.H99Y,CTU2:NM_001012762:exon7:c.C556T:p.H186Y,CTU2:NM_001012759:exon7:c.C556T:p.H186Y,CTU2:NM_001318507:exon7:c.C769T:p.H257Y, chr16 88779132 88779132 C T het . 5 +line33022 nonsynonymous SNV PIEZO1:NM_001142864:exon7:c.T749C:p.V250A, chr16 88804734 88804734 A G het . 30 +line33024 synonymous SNV CDT1:NM_030928:exon10:c.C1587G:p.L529L, chr16 88874632 88874632 C G het . 15 +line33029 nonsynonymous SNV ACSF3:NM_001243279:exon3:c.T5C:p.L2P,ACSF3:NM_174917:exon3:c.T5C:p.L2P,ACSF3:NM_001127214:exon2:c.T5C:p.L2P, chr16 89167094 89167094 T C het . 2 +line33037 frameshift insertion ZNF778:NM_001201407:exon5:c.328_329insGTGA:p.E110fs, chr16 89291210 89291210 - GTGA het . 13 +line33056 nonsynonymous SNV DPEP1:NM_001128141:exon11:c.G1204A:p.A402T,DPEP1:NM_004413:exon11:c.G1204A:p.A402T, chr16 89704598 89704598 G A het . 2 +line33078 nonsynonymous SNV MC1R:NM_002386:exon1:c.C451T:p.R151C, chr16 89986117 89986117 C T het . 4 +line33079 nonsynonymous SNV MC1R:NM_002386:exon1:c.T464C:p.I155T, chr16 89986130 89986130 T C het . 4 +line33083 nonsynonymous SNV CENPBD1:NM_145039:exon1:c.G173T:p.R58L, chr16 90038158 90038158 C A het . 37 +line33098 synonymous SNV VPS53:NM_001128159:exon13:c.C1257T:p.G419G,VPS53:NM_018289:exon12:c.C1170T:p.G390G, chr17 489566 489566 G A het . 41 +line33102 nonsynonymous SNV VPS53:NM_001128159:exon2:c.A140G:p.Y47C,VPS53:NM_018289:exon2:c.A140G:p.Y47C, chr17 613801 613801 T C het . 11 +line33127 nonsynonymous SNV MYO1C:NM_001080779:exon12:c.G1384A:p.E462K,MYO1C:NM_001363855:exon12:c.G1312A:p.E438K,MYO1C:NM_001080950:exon12:c.G1327A:p.E443K,MYO1C:NM_033375:exon12:c.G1279A:p.E427K, chr17 1381398 1381398 C T het . 25 +line33137 nonsynonymous SNV RILP:NM_031430:exon1:c.G59A:p.G20E, chr17 1553040 1553040 C T het . 24 +line33138 nonsynonymous SNV PRPF8:NM_006445:exon30:c.G4691T:p.G1564V, chr17 1563820 1563820 C A het . 33 +line33142 synonymous SNV WDR81:NM_001163673:exon7:c.A1134G:p.P378P,WDR81:NM_001163809:exon7:c.A4743G:p.P1581P,WDR81:NM_152348:exon8:c.A1590G:p.P530P,WDR81:NM_001163811:exon7:c.A1062G:p.P354P, chr17 1637074 1637074 A G het . 6 +line33143 nonsynonymous SNV SMYD4:NM_052928:exon10:c.A2180G:p.Y727C, chr17 1686410 1686410 T C het . 14 +line33151 nonsynonymous SNV TSR1:NM_018128:exon3:c.C284T:p.S95F, chr17 2238942 2238942 G A het . 26 +line33158 nonsynonymous SNV PAFAH1B1:NM_000430:exon5:c.C308T:p.A103V, chr17 2570401 2570401 C T het . 50 +line33160 nonsynonymous SNV CLUH:NM_015229:exon10:c.G1771A:p.A591T, chr17 2601266 2601266 C T het . 10 +line33161 nonsynonymous SNV CLUH:NM_015229:exon10:c.G1494T:p.Q498H, chr17 2601543 2601543 C A het . 14 +line33166 frameshift deletion OR1E1:NM_003553:exon1:c.389_399del:p.L130fs, chr17 3301306 3301316 GGTGTAGTGCA - het . 18 +line33173 synonymous SNV TRPV3:NM_145068:exon8:c.G936A:p.T312T,TRPV3:NM_001258205:exon8:c.G936A:p.T312T, chr17 3436080 3436080 C T het . 27 +line33174 synonymous SNV TRPV3:NM_145068:exon6:c.A558C:p.I186I,TRPV3:NM_001258205:exon6:c.A558C:p.I186I, chr17 3445901 3445901 T G het . 27 +line33179 nonsynonymous SNV HASPIN:NM_031965:exon1:c.C1311A:p.H437Q, chr17 3628540 3628540 C A het . 12 +line33181 nonsynonymous SNV ITGAE:NM_002208:exon6:c.G496A:p.G166S, chr17 3664409 3664409 C T het . 18 +line33182 synonymous SNV ITGAE:NM_002208:exon4:c.G270T:p.G90G, chr17 3665254 3665254 C A het . 10 +line33187 nonsynonymous SNV ZZEF1:NM_015113:exon33:c.A5273G:p.E1758G, chr17 3959532 3959532 T C het . 6 +line33193 nonsynonymous SNV ANKFY1:NM_001257999:exon18:c.A2538C:p.R846S,ANKFY1:NM_001330063:exon18:c.A2412C:p.R804S,ANKFY1:NM_016376:exon18:c.A2415C:p.R805S, chr17 4082338 4082338 T G het . 16 +line33200 nonsynonymous SNV SPNS2:NM_001124758:exon1:c.A205C:p.T69P, chr17 4402547 4402547 A C het . 4 +line33201 synonymous SNV SPNS2:NM_001124758:exon1:c.A210C:p.G70G, chr17 4402552 4402552 A C het . 4 +line33202 nonsynonymous SNV SPNS2:NM_001124758:exon1:c.A220C:p.T74P, chr17 4402562 4402562 A C het . 8 +line33203 nonsynonymous SNV SPNS2:NM_001124758:exon1:c.A229C:p.T77P, chr17 4402571 4402571 A C het . 10 +line33210 synonymous SNV GGT6:NM_153338:exon1:c.C21T:p.P7P,GGT6:NM_001288704:exon1:c.C21T:p.P7P,GGT6:NM_001288703:exon1:c.C21T:p.P7P,GGT6:NM_001288702:exon1:c.C21T:p.P7P,GGT6:NM_001122890:exon1:c.C21T:p.P7P, chr17 4463796 4463796 G A het . 17 +line33211 nonsynonymous SNV GGT6:NM_153338:exon1:c.G18T:p.E6D,GGT6:NM_001288704:exon1:c.G18T:p.E6D,GGT6:NM_001288703:exon1:c.G18T:p.E6D,GGT6:NM_001288702:exon1:c.G18T:p.E6D,GGT6:NM_001122890:exon1:c.G18T:p.E6D, chr17 4463799 4463799 C A het . 17 +line33215 synonymous SNV CXCL16:NM_001100812:exon2:c.C201T:p.S67S,CXCL16:NM_022059:exon2:c.C201T:p.S67S, chr17 4642151 4642151 G A het . 14 +line33216 nonsynonymous SNV TM4SF5:NM_003963:exon4:c.T429G:p.D143E, chr17 4686182 4686182 T G het . 6 +line33217 nonsynonymous SNV VMO1:NM_001144941:exon1:c.A76G:p.T26A,VMO1:NM_001144940:exon1:c.A76G:p.T26A,VMO1:NM_182566:exon1:c.A76G:p.T26A,VMO1:NM_001144939:exon1:c.A76G:p.T26A, chr17 4689572 4689572 T C het . 10 +line33220 nonsynonymous SNV MINK1:NM_001321236:exon20:c.T2036C:p.V679A,MINK1:NM_001024937:exon20:c.T2252C:p.V751A,MINK1:NM_170663:exon19:c.T2201C:p.V734A,MINK1:NM_015716:exon19:c.T2201C:p.V734A,MINK1:NM_153827:exon20:c.T2312C:p.V771A, chr17 4796274 4796274 T C het . 7 +line33221 nonsynonymous SNV MINK1:NM_001321236:exon20:c.C2048T:p.P683L,MINK1:NM_001024937:exon20:c.C2264T:p.P755L,MINK1:NM_170663:exon19:c.C2213T:p.P738L,MINK1:NM_015716:exon19:c.C2213T:p.P738L,MINK1:NM_153827:exon20:c.C2324T:p.P775L, chr17 4796286 4796286 C T het . 8 +line33227 nonsynonymous SNV GP1BA:NM_000173:exon2:c.C1410A:p.S470R, chr17 4837309 4837309 C A het . 32 +line33232 nonsynonymous SNV CAMTA2:NM_001171167:exon9:c.G868C:p.A290P,CAMTA2:NM_001171168:exon8:c.G796C:p.A266P,CAMTA2:NM_001171166:exon8:c.G805C:p.A269P,CAMTA2:NM_015099:exon9:c.G799C:p.A267P, chr17 4883818 4883818 C G het . 2 +line33235 synonymous SNV KIF1C:NM_006612:exon20:c.C1833G:p.V611V, chr17 4923869 4923869 C G het . 11 +line33236 nonsynonymous SNV KIF1C:NM_006612:exon20:c.C1835G:p.P612R, chr17 4923871 4923871 C G het . 11 +line33239 synonymous SNV USP6:NM_001304284:exon16:c.C525A:p.A175A,USP6:NM_004505:exon8:c.C525A:p.A175A, chr17 5038559 5038559 C A het . 17 +line33240 nonsynonymous SNV USP6:NM_001304284:exon16:c.T535A:p.Y179N,USP6:NM_004505:exon8:c.T535A:p.Y179N, chr17 5038569 5038569 T A het . 23 +line33241 nonsynonymous SNV USP6:NM_001304284:exon16:c.C542T:p.P181L,USP6:NM_004505:exon8:c.C542T:p.P181L, chr17 5038576 5038576 C T het . 22 +line33242 nonsynonymous SNV USP6:NM_001304284:exon20:c.A826C:p.I276L,USP6:NM_004505:exon12:c.A826C:p.I276L, chr17 5040946 5040946 A C het . 14 +line33273 synonymous SNV PITPNM3:NM_031220:exon18:c.G2472A:p.L824L,PITPNM3:NM_001165966:exon17:c.G2364A:p.L788L, chr17 6364711 6364711 C T het . 17 +line33282 nonsynonymous SNV TEKT1:NM_053285:exon5:c.C569T:p.S190L, chr17 6718542 6718542 G A het . 8 +line33288 synonymous SNV ALOX12:NM_000697:exon6:c.G765A:p.S255S, chr17 6902743 6902743 G A het . 5 +line33289 nonsynonymous SNV ALOX12:NM_000697:exon6:c.A782G:p.Q261R, chr17 6902760 6902760 A G het . 3 +line33292 nonframeshift insertion BCL6B:NM_181844:exon4:c.701_702insCAG:p.S234delinsSS, chr17 6928019 6928019 - CAG het . 13 +line33300 nonsynonymous SNV NEURL4:NM_032442:exon23:c.T3788G:p.V1263G,NEURL4:NM_001005408:exon23:c.T3782G:p.V1261G, chr17 7221890 7221890 A C het . 6 +line33302 synonymous SNV ACAP1:NM_014716:exon3:c.A216G:p.P72P, chr17 7245371 7245371 A G het . 6 +line33309 nonframeshift substitution SLC35G6:NM_001102614:exon2:c.976_977CA, chr17 7386279 7386280 TG CA het . 4 +line33312 synonymous SNV POLR2A:NM_000937:exon29:c.A5100G:p.S1700S, chr17 7416683 7416683 A G het . 17 +line33315 nonsynonymous SNV SENP3:NM_015670:exon2:c.A166C:p.T56P, chr17 7466559 7466559 A C het . 10 +line33321 nonsynonymous SNV CD68:NM_001040059:exon2:c.A158C:p.N53T,CD68:NM_001251:exon2:c.A239C:p.N80T, chr17 7483317 7483317 A C het . 22 +line33322 nonsynonymous SNV MPDU1:NM_001330073:exon1:c.C85A:p.Q29K,MPDU1:NM_004870:exon1:c.C85A:p.Q29K, chr17 7487265 7487265 C A het . 38 +line33323 nonsynonymous SNV MPDU1:NM_004870:exon7:c.C662A:p.S221Y, chr17 7490787 7490787 C A het . 35 +line33332 synonymous SNV DNAH2:NM_020877:exon17:c.A2775G:p.Q925Q, chr17 7663246 7663246 A G het . 13 +line33333 nonsynonymous SNV DNAH2:NM_020877:exon28:c.G4375A:p.G1459R, chr17 7674660 7674660 G A het . 12 +line33335 synonymous SNV KDM6B:NM_001080424:exon9:c.T807C:p.A269A,KDM6B:NM_001348716:exon9:c.T807C:p.A269A, chr17 7750232 7750232 T C het . 5 +line33339 nonsynonymous SNV CNTROB:NM_001353207:exon11:c.A1439T:p.H480L,CNTROB:NM_001353205:exon10:c.A1172T:p.H391L,CNTROB:NM_001353206:exon11:c.A1439T:p.H480L,CNTROB:NM_001353209:exon11:c.A1439T:p.H480L,CNTROB:NM_001037144:exon10:c.A1439T:p.H480L,CNTROB:NM_053051:exon10:c.A1439T:p.H480L,CNTROB:NM_001330124:exon10:c.A1439T:p.H480L,CNTROB:NM_001353203:exon11:c.A1439T:p.H480L,CNTROB:NM_001353204:exon11:c.A881T:p.H294L,CNTROB:NM_001353202:exon10:c.A1439T:p.H480L,CNTROB:NM_001353208:exon11:c.A1439T:p.H480L, chr17 7846836 7846836 A T het . 6 +line33343 synonymous SNV ALOX15B:NM_001039130:exon2:c.C345G:p.T115T,ALOX15B:NM_001039131:exon2:c.C345G:p.T115T,ALOX15B:NM_001141:exon2:c.C345G:p.T115T, chr17 7942901 7942901 C G het . 7 +line33347 nonsynonymous SNV PER1:NM_002616:exon19:c.G2884C:p.A962P, chr17 8046772 8046772 C G het . 2 +line33352 nonsynonymous SNV CTC1:NM_025099:exon19:c.A3013G:p.I1005V, chr17 8132763 8132763 T C het . 4 +line33355 nonsynonymous SNV PFAS:NM_012393:exon16:c.T1862C:p.L621P, chr17 8167600 8167600 T C het . 17 +line33370 unknown UNKNOWN chr17 8725214 8725214 - G het . 19 +line33372 nonsynonymous SNV NTN1:NM_004822:exon2:c.C349A:p.L117M, chr17 8926039 8926039 C A het . 24 +line33413 stopgain MYH3:NM_002470:exon3:c.G16T:p.E6X, chr17 10558366 10558366 C A het . 36 +line33417 nonsynonymous SNV TMEM220:NM_001330139:exon5:c.G408T:p.K136N,TMEM220:NM_001330140:exon4:c.G348T:p.K116N,TMEM220:NM_001004313:exon6:c.G438T:p.K146N, chr17 10618815 10618815 C A het . 23 +line33425 nonsynonymous SNV SHISA6:NM_001173461:exon2:c.G742A:p.V248I,SHISA6:NM_001173462:exon2:c.G742A:p.V248I,SHISA6:NM_207386:exon2:c.G742A:p.V248I, chr17 11166786 11166786 G A het . 19 +line33441 nonsynonymous SNV MYOCD:NM_153604:exon11:c.T2120A:p.F707Y,MYOCD:NM_001146312:exon12:c.T2264A:p.F755Y, chr17 12661463 12661463 T A het . 32 +line33442 nonsynonymous SNV MYOCD:NM_153604:exon13:c.T2468C:p.V823A,MYOCD:NM_001146312:exon14:c.T2612C:p.V871A, chr17 12666612 12666612 T C het . 6 +line33445 nonsynonymous SNV ELAC2:NM_018127:exon1:c.C112T:p.R38W,ELAC2:NM_173717:exon1:c.C112T:p.R38W,ELAC2:NM_001165962:exon1:c.C112T:p.R38W, chr17 12921153 12921153 G A het . 18 +line33459 synonymous SNV COX10:NM_001303:exon4:c.T549C:p.P183P, chr17 14005484 14005484 T C het . 39 +line33467 nonsynonymous SNV ZNF286A:NM_020652:exon4:c.C236T:p.S79L,ZNF286A:NM_001288642:exon4:c.C365T:p.S122L,ZNF286A:NM_001288643:exon3:c.C206T:p.S69L,ZNF286A:NM_001130842:exon4:c.C236T:p.S79L, chr17 15609810 15609810 C T het . 7 +line33472 nonsynonymous SNV ZSWIM7:NM_001042698:exon5:c.G418T:p.A140S,ZSWIM7:NM_001042697:exon5:c.G418T:p.A140S, chr17 15881366 15881366 C A het . 16 +line33478 nonsynonymous SNV NCOR1:NM_006311:exon30:c.G4111T:p.V1371F,NCOR1:NM_001190440:exon29:c.G4159T:p.V1387F, chr17 15974764 15974764 C A het . 24 +line33490 synonymous SNV TNFRSF13B:NM_012452:exon5:c.T831C:p.S277S, chr17 16842912 16842912 A G het . 3 +line33507 synonymous SNV RAI1:NM_030665:exon3:c.C4530T:p.P1510P, chr17 17700792 17700792 C T het . 7 +line33511 nonsynonymous SNV GID4:NM_024052:exon5:c.C712A:p.Q238K, chr17 17965162 17965162 C A het . 17 +line33512 synonymous SNV MYO15A:NM_016239:exon3:c.C3640A:p.R1214R, chr17 18027827 18027827 C A het . 18 +line33514 nonsynonymous SNV MYO15A:NM_016239:exon30:c.T6539G:p.F2180C, chr17 18051372 18051372 T G het . 34 +line33515 nonsynonymous SNV MYO15A:NM_016239:exon32:c.T6848C:p.V2283A, chr17 18052158 18052158 T C het . 20 +line33523 nonsynonymous SNV MIEF2:NM_148886:exon4:c.G1004A:p.G335E,MIEF2:NM_139162:exon4:c.G971A:p.G324E, chr17 18167684 18167684 G A het . 16 +line33524 synonymous SNV SMCR8:NM_144775:exon1:c.C2031T:p.Y677Y, chr17 18221134 18221134 C T het . 14 +line33525 nonsynonymous SNV SMCR8:NM_144775:exon1:c.C2143A:p.R715S, chr17 18221246 18221246 C A het . 22 +line33526 synonymous SNV SHMT1:NM_148918:exon5:c.G432T:p.P144P,SHMT1:NM_004169:exon5:c.G432T:p.P144P,SHMT1:NM_001281786:exon4:c.G18T:p.P6P, chr17 18250897 18250897 C A het . 26 +line33534 nonsynonymous SNV PRPSAP2:NM_001353106:exon12:c.G1068T:p.E356D,PRPSAP2:NM_001243936:exon10:c.G948T:p.E316D,PRPSAP2:NM_001353100:exon12:c.G810T:p.E270D,PRPSAP2:NM_001353107:exon11:c.G1068T:p.E356D,PRPSAP2:NM_001243942:exon11:c.G810T:p.E270D,PRPSAP2:NM_001243940:exon10:c.G921T:p.E307D,PRPSAP2:NM_001353099:exon12:c.G933T:p.E311D,PRPSAP2:NM_001353104:exon10:c.G810T:p.E270D,PRPSAP2:NM_001353098:exon12:c.G1230T:p.E410D,PRPSAP2:NM_001353105:exon11:c.G1068T:p.E356D,PRPSAP2:NM_001353101:exon11:c.G1068T:p.E356D,PRPSAP2:NM_001353096:exon12:c.G933T:p.E311D,PRPSAP2:NM_001243941:exon10:c.G810T:p.E270D,PRPSAP2:NM_001353097:exon12:c.G933T:p.E311D,PRPSAP2:NM_001353103:exon10:c.G810T:p.E270D,PRPSAP2:NM_001353102:exon12:c.G1068T:p.E356D,PRPSAP2:NM_002767:exon12:c.G1068T:p.E356D, chr17 18833969 18833969 G T het . 22 +line33535 nonsynonymous SNV PRPSAP2:NM_001353106:exon12:c.C1070A:p.S357Y,PRPSAP2:NM_001243936:exon10:c.C950A:p.S317Y,PRPSAP2:NM_001353100:exon12:c.C812A:p.S271Y,PRPSAP2:NM_001353107:exon11:c.C1070A:p.S357Y,PRPSAP2:NM_001243942:exon11:c.C812A:p.S271Y,PRPSAP2:NM_001243940:exon10:c.C923A:p.S308Y,PRPSAP2:NM_001353099:exon12:c.C935A:p.S312Y,PRPSAP2:NM_001353104:exon10:c.C812A:p.S271Y,PRPSAP2:NM_001353098:exon12:c.C1232A:p.S411Y,PRPSAP2:NM_001353105:exon11:c.C1070A:p.S357Y,PRPSAP2:NM_001353101:exon11:c.C1070A:p.S357Y,PRPSAP2:NM_001353096:exon12:c.C935A:p.S312Y,PRPSAP2:NM_001243941:exon10:c.C812A:p.S271Y,PRPSAP2:NM_001353097:exon12:c.C935A:p.S312Y,PRPSAP2:NM_001353103:exon10:c.C812A:p.S271Y,PRPSAP2:NM_001353102:exon12:c.C1070A:p.S357Y,PRPSAP2:NM_002767:exon12:c.C1070A:p.S357Y, chr17 18833971 18833971 C A het . 22 +line33536 synonymous SNV SLC5A10:NM_001042450:exon1:c.C66T:p.I22I,SLC5A10:NM_001270649:exon1:c.C66T:p.I22I,SLC5A10:NM_152351:exon1:c.C66T:p.I22I,SLC5A10:NM_001270648:exon1:c.C66T:p.I22I, chr17 18855584 18855584 C T het . 10 +line33537 synonymous SNV SLC5A10:NM_001042450:exon1:c.T93C:p.N31N,SLC5A10:NM_001270649:exon1:c.T93C:p.N31N,SLC5A10:NM_152351:exon1:c.T93C:p.N31N,SLC5A10:NM_001270648:exon1:c.T93C:p.N31N, chr17 18855611 18855611 T C het . 13 +line33544 synonymous SNV SLC47A2:NM_152908:exon11:c.G1077A:p.A359A,SLC47A2:NM_001099646:exon11:c.G969A:p.A323A,SLC47A2:NM_001256663:exon12:c.G1011A:p.A337A, chr17 19607432 19607432 C T het . 8 +line33546 nonsynonymous SNV SLC47A2:NM_152908:exon6:c.A525C:p.Q175H,SLC47A2:NM_001099646:exon6:c.A525C:p.Q175H,SLC47A2:NM_001256663:exon6:c.A525C:p.Q175H, chr17 19612035 19612035 T G het . 31 +line33572 nonsynonymous SNV MAP2K3:NM_145109:exon3:c.G164C:p.R55T,MAP2K3:NM_002756:exon3:c.G77C:p.R26T,MAP2K3:NM_001316332:exon4:c.G77C:p.R26T, chr17 21202237 21202237 G C het . 14 +line33657 synonymous SNV KCNJ12:NM_021012:exon3:c.G243C:p.R81R,KCNJ18:NM_001194958:exon3:c.G243C:p.R81R, chr17 21318897 21318897 G C het . 71 +line33658 synonymous SNV KCNJ12:NM_021012:exon3:c.C258A:p.I86I,KCNJ18:NM_001194958:exon3:c.C258A:p.I86I, chr17 21318912 21318912 C A het . 69 +line33659 synonymous SNV KCNJ12:NM_021012:exon3:c.G264A:p.S88S,KCNJ18:NM_001194958:exon3:c.G264A:p.S88S, chr17 21318918 21318918 G A het . 66 +line33660 synonymous SNV KCNJ12:NM_021012:exon3:c.C294T:p.F98F,KCNJ18:NM_001194958:exon3:c.C294T:p.F98F, chr17 21318948 21318948 C T het . 53 +line33661 nonframeshift substitution KCNJ12:NM_021012:exon3:c.297_298TG,KCNJ18:NM_001194958:exon3:c.297_298TG, chr17 21318951 21318952 CA TG het . 54 +line33662 nonsynonymous SNV KCNJ12:NM_021012:exon3:c.A298G:p.I100V,KCNJ18:NM_001194958:exon3:c.A298G:p.I100V, chr17 21318952 21318952 A G het . 44 +line33663 synonymous SNV KCNJ12:NM_021012:exon3:c.C315T:p.I105I,KCNJ18:NM_001194958:exon3:c.C315T:p.I105I, chr17 21318969 21318969 C T het . 43 +line33664 synonymous SNV KCNJ12:NM_021012:exon3:c.C327T:p.H109H,KCNJ18:NM_001194958:exon3:c.C327T:p.H109H, chr17 21318981 21318981 C T het . 36 +line33665 nonframeshift substitution KCNJ12:NM_021012:exon3:c.353_354AC,KCNJ18:NM_001194958:exon3:c.353_354AC, chr17 21319007 21319008 GG AC het . 27 +line33666 nonsynonymous SNV KCNJ12:NM_021012:exon3:c.G865C:p.E289Q,KCNJ18:NM_001194958:exon3:c.G865C:p.E289Q, chr17 21319519 21319519 G C het . 9 +line33667 nonsynonymous SNV KCNJ12:NM_021012:exon3:c.C869T:p.T290M,KCNJ18:NM_001194958:exon3:c.C869T:p.T290M, chr17 21319523 21319523 C T het . 9 +line33668 synonymous SNV KCNJ12:NM_021012:exon3:c.C873T:p.D291D,KCNJ18:NM_001194958:exon3:c.C873T:p.D291D, chr17 21319527 21319527 C T het . 7 +line33669 nonsynonymous SNV KCNJ12:NM_021012:exon3:c.G889A:p.V297I,KCNJ18:NM_001194958:exon3:c.G889A:p.V297I, chr17 21319543 21319543 G A het . 3 +line33670 nonframeshift deletion KCNJ12:NM_021012:exon3:c.997_999del:p.333_333del,KCNJ18:NM_001194958:exon3:c.997_999del:p.333_333del, chr17 21319651 21319653 GAG - het . 37 +line33671 nonsynonymous SNV KCNJ12:NM_021012:exon3:c.C1028T:p.S343L,KCNJ18:NM_001194958:exon3:c.C1028T:p.S343L, chr17 21319682 21319682 C T het . 37 +line33769 nonsynonymous SNV LGALS9:NM_001330163:exon1:c.G13A:p.G5S,LGALS9:NM_002308:exon1:c.G13A:p.G5S,LGALS9:NM_009587:exon1:c.G13A:p.G5S, chr17 25958304 25958304 G A het . 18 +line33777 nonsynonymous SNV NOS2:NM_000625:exon14:c.G1561T:p.A521S, chr17 26099477 26099477 C A het . 10 +line33784 synonymous SNV NLK:NM_016231:exon6:c.C972A:p.I324I, chr17 26495608 26495608 C A het . 24 +line33786 unknown UNKNOWN chr17 26684390 26684390 - C het . 13 +line33787 unknown UNKNOWN chr17 26684394 26684394 T G het . 14 +line33789 frameshift insertion SARM1:NM_015077:exon6:c.544_545insGC:p.S182fs, chr17 26708298 26708298 - GC het . 21 +line33790 frameshift deletion SARM1:NM_015077:exon6:c.549_550del:p.G183fs, chr17 26708303 26708304 GT - het . 22 +line33796 synonymous SNV KIAA0100:NM_001363826:exon27:c.G4686T:p.S1562S,KIAA0100:NM_001363828:exon27:c.G3090T:p.S1030S,KIAA0100:NM_001363827:exon27:c.G4110T:p.S1370S,KIAA0100:NM_001321560:exon28:c.G5112T:p.S1704S,KIAA0100:NM_001363829:exon29:c.G3087T:p.S1029S,KIAA0100:NM_014680:exon28:c.G5115T:p.S1705S, chr17 26948133 26948133 C A het . 21 +line33799 nonsynonymous SNV TLCD1:NM_001160407:exon2:c.T97G:p.W33G,TLCD1:NM_138463:exon2:c.T238G:p.W80G, chr17 27052538 27052538 A C het . 12 +line33810 nonsynonymous SNV SSH2:NM_001282129:exon10:c.G882T:p.L294F,SSH2:NM_033389:exon9:c.G801T:p.L267F, chr17 27994169 27994169 C A het . 21 +line33818 nonsynonymous SNV EFCAB5:NM_001145053:exon5:c.T665A:p.I222K,EFCAB5:NM_198529:exon5:c.T833A:p.I278K, chr17 28320248 28320248 T A het . 20 +line33820 synonymous SNV EFCAB5:NM_001145053:exon15:c.G2538A:p.R846R, chr17 28400675 28400675 G A het . 21 +line33842 nonsynonymous SNV ATAD5:NM_024857:exon21:c.G4505A:p.R1502Q, chr17 29220376 29220376 G A het . 13 +line33843 nonsynonymous SNV TEFM:NM_024683:exon2:c.G238T:p.A80S, chr17 29231341 29231341 C A het . 30 +line33853 nonsynonymous SNV NF1:NM_001042492:exon43:c.C6563A:p.S2188Y,NF1:NM_000267:exon42:c.C6500A:p.S2167Y, chr17 29664521 29664521 C A het . 34 +line33866 nonsynonymous SNV LRRC37B:NM_052888:exon1:c.C625A:p.P209T,LRRC37B:NM_001321350:exon4:c.C379A:p.P127T, chr17 30348790 30348790 C A het . 36 +line33871 nonsynonymous SNV C17orf75:NM_022344:exon10:c.G1017T:p.Q339H, chr17 30658956 30658956 C A het . 30 +line33872 nonsynonymous SNV PSMD11:NM_002815:exon3:c.C308A:p.T103K,PSMD11:NM_001270482:exon3:c.C308A:p.T103K, chr17 30781627 30781627 C A het . 11 +line33902 synonymous SNV NLE1:NM_018096:exon2:c.G33T:p.A11A, chr17 33469127 33469127 C A het . 17 +line33905 nonsynonymous SNV SLFN12:NM_018042:exon2:c.T502C:p.C168R,SLFN12:NM_001289009:exon2:c.T502C:p.C168R, chr17 33749546 33749546 A G het . 33 +line33908 synonymous SNV PEX12:NM_000286:exon2:c.G207T:p.L69L, chr17 33904530 33904530 C A het . 29 +line33912 nonframeshift deletion GAS2L2:NM_139285:exon6:c.2520_2522del:p.840_841del, chr17 34071994 34071996 TCC - het . 29 +line33920 synonymous SNV GGNBP2:NM_024835:exon12:c.G1608A:p.K536K, chr17 34942595 34942595 G A het . 27 +line33921 nonsynonymous SNV MRM1:NM_024864:exon1:c.C214A:p.L72I, chr17 34958453 34958453 C A het . 15 +line33925 nonsynonymous SNV ACACA:NM_198837:exon20:c.G2464C:p.D822H,ACACA:NM_198836:exon22:c.G2638C:p.D880H,ACACA:NM_198834:exon22:c.G2749C:p.D917H,ACACA:NM_198838:exon21:c.G2404C:p.D802H,ACACA:NM_198839:exon26:c.G2638C:p.D880H, chr17 35600469 35600469 C G het . 23 +line33929 synonymous SNV ACACA:NM_198834:exon2:c.C45T:p.F15F, chr17 35696804 35696804 G A het . 15 +line33950 synonymous SNV SOCS7:NM_014598:exon1:c.T258C:p.P86P, chr17 36508385 36508385 T C het . 7 +line33966 frameshift deletion MED1:NM_004774:exon17:c.4375delC:p.Q1459fs, chr17 37564099 37564099 G - het . 9 +line33974 nonsynonymous SNV GSDMA:NM_178171:exon12:c.T1168C:p.S390P, chr17 38133141 38133141 T C het . 21 +line33975 synonymous SNV PSMD3:NM_002809:exon5:c.T849C:p.N283N, chr17 38146154 38146154 T C het . 12 +line33978 synonymous SNV THRA:NM_199334:exon9:c.C1122T:p.L374L, chr17 38245598 38245598 C T het . 16 +line33982 unknown UNKNOWN chr17 38334359 38334359 - G het . 6 +line33985 nonsynonymous SNV WIPF2:NM_133264:exon2:c.C16G:p.P6A, chr17 38412727 38412727 C G het . 4 +line33993 nonsynonymous SNV TNS4:NM_032865:exon6:c.G1493A:p.S498N, chr17 38640744 38640744 C T het . 18 +line33999 synonymous SNV TMEM99:NM_001195386:exon3:c.T264A:p.G88G,TMEM99:NM_001195387:exon3:c.T264A:p.G88G,TMEM99:NM_145274:exon3:c.T264A:p.G88G, chr17 38991032 38991032 T A het . 16 +line34000 nonframeshift substitution TMEM99:NM_001195386:exon3:c.284_285GA,TMEM99:NM_001195387:exon3:c.284_285GA,TMEM99:NM_145274:exon3:c.284_285GA, chr17 38991052 38991053 TT GA het . 17 +line34001 nonsynonymous SNV KRT12:NM_000223:exon5:c.G1030A:p.E344K, chr17 39019802 39019802 C T het . 35 +line34004 nonsynonymous SNV KRT39:NM_213656:exon1:c.G139T:p.A47S, chr17 39122970 39122970 C A het . 35 +line34006 synonymous SNV KRTAP1-3:NM_030966:exon1:c.C135T:p.C45C, chr17 39190939 39190939 G A het . 33 +line34007 nonframeshift deletion KRTAP1-1:NM_030967:exon1:c.213_227del:p.71_76del, chr17 39197423 39197437 CAGCAGCTTGGCTGG - het . 38 +line34011 synonymous SNV KRTAP4-11:NM_033059:exon1:c.C333T:p.R111R, chr17 39274235 39274235 G A het . 20 +line34012 nonsynonymous SNV KRTAP4-11:NM_033059:exon1:c.G77A:p.R26H, chr17 39274491 39274491 C T het . 13 +line34013 nonsynonymous SNV KRTAP4-11:NM_033059:exon1:c.G50A:p.R17Q, chr17 39274518 39274518 C T het . 7 +line34014 synonymous SNV KRTAP4-6:NM_030976:exon1:c.G486A:p.P162P, chr17 39296254 39296254 C T het . 44 +line34015 nonsynonymous SNV KRTAP4-6:NM_030976:exon1:c.T379C:p.S127P, chr17 39296361 39296361 A G het . 33 +line34016 nonsynonymous SNV KRTAP4-5:NM_033188:exon1:c.T235A:p.C79S, chr17 39305785 39305785 A T het . 19 +line34018 nonsynonymous SNV KRTAP4-1:NM_033060:exon1:c.A197G:p.H66R, chr17 39340910 39340910 T C het . 22 +line34019 nonsynonymous SNV KRTAP9-1:NM_001190460:exon1:c.T380C:p.I127T, chr17 39346518 39346518 T C het . 34 +line34020 nonsynonymous SNV KRTAP9-2:NM_031961:exon1:c.G167C:p.C56S, chr17 39383073 39383073 G C het . 12 +line34025 nonsynonymous SNV KRT32:NM_002278:exon3:c.C665A:p.S222Y, chr17 39622068 39622068 G T het . 6 +line34029 nonsynonymous SNV KRT13:NM_153490:exon2:c.C560T:p.A187V,KRT13:NM_002274:exon2:c.C560T:p.A187V, chr17 39659913 39659913 G A het . 25 +line34030 nonsynonymous SNV KRT19:NM_002276:exon1:c.C179G:p.A60G, chr17 39684321 39684321 G C het . 27 +line34036 nonsynonymous SNV HAP1:NM_177977:exon11:c.C1524G:p.F508L,HAP1:NM_001079871:exon10:c.C1449G:p.F483L,HAP1:NM_001079870:exon10:c.C1473G:p.F491L, chr17 39881289 39881289 G C het . 15 +line34055 synonymous SNV DHX58:NM_024119:exon9:c.G1152T:p.L384L, chr17 40257853 40257853 C A het . 9 +line34060 synonymous SNV ATP6V0A1:NM_001130020:exon19:c.T2142C:p.F714F,ATP6V0A1:NM_001130021:exon20:c.T2139C:p.F713F,ATP6V0A1:NM_005177:exon19:c.T2121C:p.F707F, chr17 40665887 40665887 T C het . 12 +line34062 synonymous SNV NAGLU:NM_000263:exon2:c.T423C:p.S141S, chr17 40689455 40689455 T C het . 21 +line34065 nonsynonymous SNV RETREG3:NM_178126:exon6:c.C673T:p.R225W, chr17 40737197 40737197 G A het . 17 +line34078 synonymous SNV PTGES3L:NM_001142653:exon1:c.C48T:p.G16G,PTGES3L-AARSD1:NM_001136042:exon1:c.C48T:p.G16G,PTGES3L:NM_001142654:exon1:c.C48T:p.G16G,PTGES3L:NM_001261430:exon1:c.C48T:p.G16G, chr17 41132152 41132152 G A het . 14 +line34160 nonsynonymous SNV ETV4:NM_001261437:exon6:c.T271G:p.Y91D,ETV4:NM_001079675:exon7:c.T388G:p.Y130D,ETV4:NM_001261438:exon6:c.T271G:p.Y91D,ETV4:NM_001986:exon7:c.T388G:p.Y130D, chr17 41610712 41610712 A C het . 1 +line34167 nonframeshift substitution MPP2:NM_005374:exon4:c.240_241GC,MPP2:NM_001278372:exon5:c.312_313GC,MPP2:NM_001278381:exon5:c.240_241GC,MPP2:NM_001278375:exon3:c.207_208GC,MPP2:NM_001278370:exon4:c.375_376GC,MPP2:NM_001278376:exon3:c.291_292GC,MPP2:NM_001278373:exon3:c.207_208GC,MPP2:NM_001278371:exon3:c.207_208GC, chr17 41960633 41960634 CG GC het . 19 +line34172 nonsynonymous SNV HDAC5:NM_001015053:exon13:c.C1782G:p.D594E,HDAC5:NM_005474:exon13:c.C1779G:p.D593E, chr17 42164885 42164885 G C het . 22 +line34173 nonsynonymous SNV HDAC5:NM_001015053:exon5:c.G390T:p.Q130H,HDAC5:NM_005474:exon5:c.G387T:p.Q129H, chr17 42170821 42170821 C A het . 30 +line34174 nonsynonymous SNV TMUB2:NM_001353191:exon5:c.G793C:p.V265L,TMUB2:NM_001353187:exon5:c.G715C:p.V239L,TMUB2:NM_001353182:exon3:c.G793C:p.V265L,TMUB2:NM_001353185:exon6:c.G715C:p.V239L,TMUB2:NM_024107:exon3:c.G793C:p.V265L,TMUB2:NM_001353189:exon4:c.G826C:p.V276L,TMUB2:NM_001353180:exon4:c.G826C:p.V276L,TMUB2:NM_001076674:exon4:c.G853C:p.V285L,TMUB2:NM_001353188:exon4:c.G793C:p.V265L,TMUB2:NM_001353190:exon3:c.G793C:p.V265L,TMUB2:NM_001353178:exon4:c.G793C:p.V265L,TMUB2:NM_001353173:exon3:c.G793C:p.V265L,TMUB2:NM_001353183:exon3:c.G793C:p.V265L,TMUB2:NM_001353181:exon3:c.G853C:p.V285L,TMUB2:NM_001353184:exon3:c.G853C:p.V285L,TMUB2:NM_001353175:exon3:c.G793C:p.V265L,TMUB2:NM_001353177:exon4:c.G853C:p.V285L,TMUB2:NM_001353174:exon4:c.G682C:p.V228L,TMUB2:NM_001330235:exon6:c.G682C:p.V228L,TMUB2:NM_177441:exon3:c.G793C:p.V265L,TMUB2:NM_001353176:exon5:c.G793C:p.V265L, chr17 42268119 42268119 G C het . 18 +line34182 nonsynonymous SNV ITGA2B:NM_000419:exon26:c.T2621G:p.I874S, chr17 42453065 42453065 A C het . 6 +line34185 nonsynonymous SNV GPATCH8:NM_001304939:exon7:c.G1567T:p.A523S,GPATCH8:NM_001304943:exon5:c.G1408T:p.A470S,GPATCH8:NM_001304942:exon7:c.G1408T:p.A470S,GPATCH8:NM_001304940:exon10:c.G1408T:p.A470S,GPATCH8:NM_001304941:exon9:c.G1408T:p.A470S,GPATCH8:NM_001002909:exon8:c.G1642T:p.A548S, chr17 42477803 42477803 C A het . 27 +line34191 nonsynonymous SNV MEIOC:NM_001145080:exon5:c.C2104A:p.P702T, chr17 42745383 42745383 C A het . 30 +line34193 nonsynonymous SNV ADAM11:NM_001318933:exon8:c.C50T:p.S17F,ADAM11:NM_002390:exon8:c.C646T:p.P216S, chr17 42849802 42849802 C T het . 14 +line34206 synonymous SNV FMNL1:NM_005892:exon15:c.A1641C:p.P547P, chr17 43319269 43319269 A C het . 2 +line34208 nonsynonymous SNV SPATA32:NM_152343:exon2:c.T50C:p.V17A, chr17 43334538 43334538 A G het . 18 +line34230 nonsynonymous SNV TBX21:NM_013351:exon3:c.G653A:p.R218H, chr17 45820443 45820443 G A het . 5 +line34231 nonsynonymous SNV TBX21:NM_013351:exon6:c.T1507C:p.S503P, chr17 45822631 45822631 T C het . 15 +line34232 synonymous SNV OSBPL7:NM_145798:exon23:c.T2499C:p.Y833Y, chr17 45885687 45885687 A G het . 22 +line34245 nonsynonymous SNV HOXB7:NM_004502:exon1:c.A25G:p.T9A, chr17 46688256 46688256 T C het . 3 +line34246 synonymous SNV HOXB9:NM_024017:exon1:c.T84C:p.F28F, chr17 46703548 46703548 A G het . 23 +line34248 nonsynonymous SNV HOXB13:NM_006361:exon1:c.G395T:p.G132V, chr17 46805561 46805561 C A het . 30 +line34252 synonymous SNV ATP5MC1:NM_001002027:exon5:c.C405A:p.A135A,ATP5MC1:NM_005175:exon5:c.C405A:p.A135A, chr17 46973125 46973125 C A het . 22 +line34267 nonsynonymous SNV IGF2BP1:NM_001160423:exon10:c.C910A:p.P304T,IGF2BP1:NM_006546:exon12:c.C1327A:p.P443T, chr17 47122359 47122359 C A het . 24 +line34270 nonsynonymous SNV ABI3:NM_001135186:exon5:c.T608C:p.F203S,ABI3:NM_016428:exon5:c.T626C:p.F209S, chr17 47297297 47297297 T C het . 16 +line34271 stopgain ZNF652:NM_014897:exon6:c.G1465T:p.E489X,ZNF652:NM_001145365:exon6:c.G1465T:p.E489X, chr17 47376131 47376131 C A het . 25 +line34276 nonsynonymous SNV SLC35B1:NM_005827:exon8:c.G794T:p.G265V,SLC35B1:NM_001278784:exon8:c.G593T:p.G198V, chr17 47780342 47780342 C A het . 17 +line34289 synonymous SNV XYLT2:NM_022167:exon2:c.G177A:p.E59E, chr17 48431032 48431032 G A het . 5 +line34294 nonsynonymous SNV CACNA1G:NM_001256330:exon17:c.C3512T:p.S1171F,CACNA1G:NM_001256333:exon17:c.C3512T:p.S1171F,CACNA1G:NM_001256328:exon17:c.C3512T:p.S1171F,CACNA1G:NM_198386:exon17:c.C3512T:p.S1171F,CACNA1G:NM_198377:exon17:c.C3512T:p.S1171F,CACNA1G:NM_001256329:exon17:c.C3512T:p.S1171F,CACNA1G:NM_001256334:exon17:c.C3512T:p.S1171F,CACNA1G:NM_001256331:exon17:c.C3512T:p.S1171F,CACNA1G:NM_198387:exon16:c.C3443T:p.S1148F,CACNA1G:NM_198383:exon16:c.C3443T:p.S1148F,CACNA1G:NM_198376:exon16:c.C3443T:p.S1148F,CACNA1G:NM_001256360:exon17:c.C3512T:p.S1171F,CACNA1G:NM_198396:exon16:c.C3443T:p.S1148F,CACNA1G:NM_198382:exon16:c.C3443T:p.S1148F,CACNA1G:NM_001256326:exon17:c.C3512T:p.S1171F,CACNA1G:NM_001256327:exon17:c.C3512T:p.S1171F,CACNA1G:NM_198388:exon16:c.C3443T:p.S1148F,CACNA1G:NM_001256332:exon16:c.C3443T:p.S1148F,CACNA1G:NM_198378:exon17:c.C3512T:p.S1171F,CACNA1G:NM_001256324:exon17:c.C3512T:p.S1171F,CACNA1G:NM_198379:exon16:c.C3443T:p.S1148F,CACNA1G:NM_018896:exon17:c.C3512T:p.S1171F,CACNA1G:NM_001256325:exon17:c.C3512T:p.S1171F,CACNA1G:NM_198380:exon17:c.C3512T:p.S1171F,CACNA1G:NM_001256359:exon17:c.C3512T:p.S1171F,CACNA1G:NM_198385:exon17:c.C3512T:p.S1171F,CACNA1G:NM_198384:exon17:c.C3512T:p.S1171F,CACNA1G:NM_001256361:exon17:c.C3512T:p.S1171F, chr17 48677042 48677042 C T het . 19 +line34337 nonsynonymous SNV DGKE:NM_003647:exon8:c.C1197A:p.S399R, chr17 54933971 54933971 C A het . 21 +line34361 nonsynonymous SNV OR4D2:NM_001004707:exon1:c.C85A:p.L29I, chr17 56247101 56247101 C A het . 27 +line34362 nonsynonymous SNV MKS1:NM_001321268:exon14:c.G705T:p.E235D,MKS1:NM_017777:exon15:c.G1314T:p.E438D,MKS1:NM_001321269:exon15:c.G1314T:p.E438D,MKS1:NM_001165927:exon15:c.G1284T:p.E428D, chr17 56284539 56284539 C A het . 25 +line34363 nonsynonymous SNV TSPOAP1:NM_024418:exon21:c.G4259A:p.R1420Q,TSPOAP1:NM_004758:exon22:c.G4439A:p.R1480Q,TSPOAP1:NM_001261835:exon22:c.G4439A:p.R1480Q, chr17 56386194 56386194 C T het . 12 +line34366 nonsynonymous SNV MTMR4:NM_004687:exon13:c.G1457T:p.C486F, chr17 56581692 56581692 C A het . 15 +line34395 synonymous SNV VMP1:NM_001329396:exon3:c.C175T:p.L59L,VMP1:NM_001329395:exon3:c.C175T:p.L59L,VMP1:NM_001329394:exon3:c.C175T:p.L59L,VMP1:NM_001329397:exon3:c.C175T:p.L59L,VMP1:NM_030938:exon3:c.C175T:p.L59L, chr17 57812797 57812797 C T het . 19 +line34436 nonsynonymous SNV MARCH10:NM_152598:exon6:c.G1621T:p.V541F,MARCH10:NM_001288779:exon7:c.G1735T:p.V579F,MARCH10:NM_001100875:exon6:c.G1621T:p.V541F,MARCH10:NM_001288780:exon7:c.G1618T:p.V540F, chr17 60813608 60813608 C A het . 22 +line34437 synonymous SNV MARCH10:NM_152598:exon6:c.C1602T:p.N534N,MARCH10:NM_001288779:exon7:c.C1716T:p.N572N,MARCH10:NM_001100875:exon6:c.C1602T:p.N534N,MARCH10:NM_001288780:exon7:c.C1599T:p.N533N, chr17 60813627 60813627 G A het . 23 +line34445 nonsynonymous SNV TANC2:NM_025185:exon25:c.C5048A:p.A1683E, chr17 61498391 61498391 C A het . 17 +line34447 nonsynonymous SNV ACE:NM_000789:exon5:c.C787A:p.H263N, chr17 61557829 61557829 C A het . 21 +line34452 synonymous SNV KCNH6:NM_030779:exon5:c.T852C:p.D284D,KCNH6:NM_001278919:exon5:c.T852C:p.D284D,KCNH6:NM_001278920:exon5:c.T483C:p.D161D,KCNH6:NM_173092:exon5:c.T852C:p.D284D, chr17 61611423 61611423 T C het . 8 +line34456 nonsynonymous SNV DDX42:NM_203499:exon18:c.G2348C:p.G783A,DDX42:NM_007372:exon19:c.G2348C:p.G783A, chr17 61895289 61895289 G C het . 15 +line34458 nonsynonymous SNV FTSJ3:NM_017647:exon3:c.G160T:p.A54S, chr17 61903940 61903940 C A het . 15 +line34494 synonymous SNV APOH:NM_000042:exon2:c.G159T:p.P53P, chr17 64224220 64224220 C A het . 24 +line34505 nonsynonymous SNV HELZ:NM_014877:exon10:c.G728T:p.W243L,HELZ:NM_001330447:exon10:c.G728T:p.W243L, chr17 65186301 65186301 C A het . 25 +line34525 nonsynonymous SNV ARSG:NM_001267727:exon7:c.C707G:p.T236S,ARSG:NM_001352902:exon7:c.C707G:p.T236S,ARSG:NM_001352901:exon7:c.C707G:p.T236S,ARSG:NM_001352909:exon6:c.C659G:p.T220S,ARSG:NM_001352910:exon7:c.C707G:p.T236S,ARSG:NM_001352900:exon7:c.C707G:p.T236S,ARSG:NM_014960:exon7:c.C707G:p.T236S,ARSG:NM_001352899:exon7:c.C707G:p.T236S, chr17 66364691 66364691 C G het . 5 +line34555 nonsynonymous SNV ABCA5:NM_018672:exon7:c.G1114T:p.A372S,ABCA5:NM_172232:exon8:c.G1114T:p.A372S, chr17 67298864 67298864 C A het . 14 +line34580 nonsynonymous SNV COG1:NM_018714:exon6:c.A1175G:p.N392S, chr17 71196809 71196809 A G het . 39 +line34581 synonymous SNV COG1:NM_018714:exon7:c.G1782A:p.E594E, chr17 71197748 71197748 G A het . 21 +line34585 nonsynonymous SNV C17orf80:NM_001351264:exon3:c.C496A:p.P166T,C17orf80:NM_001100621:exon3:c.C496A:p.P166T,C17orf80:NM_001351265:exon3:c.C496A:p.P166T,C17orf80:NM_001288771:exon3:c.C496A:p.P166T,C17orf80:NM_001100622:exon3:c.C496A:p.P166T,C17orf80:NM_001288770:exon3:c.C496A:p.P166T,C17orf80:NM_017941:exon3:c.C496A:p.P166T, chr17 71232117 71232117 C A het . 52 +line34594 nonsynonymous SNV SDK2:NM_001144952:exon12:c.C1577A:p.T526N, chr17 71426656 71426656 G T het . 11 +line34595 synonymous SNV SDK2:NM_001144952:exon12:c.C1563T:p.H521H, chr17 71426670 71426670 G A het . 9 +line34596 nonsynonymous SNV SDK2:NM_001144952:exon4:c.C422T:p.P141L, chr17 71452102 71452102 G A het . 7 +line34614 nonsynonymous SNV CD300E:NM_181449:exon2:c.A56C:p.K19T, chr17 72613589 72613589 T G het . 4 +line34616 nonsynonymous SNV FDXR:NM_001258012:exon11:c.G1427T:p.G476V,FDXR:NM_001258015:exon10:c.G1178T:p.G393V,FDXR:NM_001258013:exon12:c.G1391T:p.G464V,FDXR:NM_024417:exon11:c.G1298T:p.G433V,FDXR:NM_004110:exon11:c.G1316T:p.G439V,FDXR:NM_001258014:exon11:c.G1274T:p.G425V,FDXR:NM_001258016:exon10:c.G1142T:p.G381V, chr17 72859245 72859245 C A het . 7 +line34618 synonymous SNV FADS6:NM_178128:exon1:c.C9T:p.P3P, chr17 72889685 72889685 G A het . 2 +line34619 synonymous SNV HID1:NM_030630:exon17:c.T2139C:p.I713I, chr17 72948369 72948369 A G het . 20 +line34620 nonsynonymous SNV HID1:NM_030630:exon15:c.G1875T:p.K625N, chr17 72949736 72949736 C A het . 18 +line34633 nonsynonymous SNV MRPS7:NM_015971:exon5:c.C574T:p.R192W, chr17 73261849 73261849 C T het . 33 +line34640 unknown UNKNOWN chr17 73592612 73592612 C T het . 14 +line34655 nonsynonymous SNV UNC13D:NM_199242:exon24:c.G2335A:p.V779M, chr17 73830188 73830188 C T het . 34 +line34659 nonsynonymous SNV EVPL:NM_001320747:exon22:c.C5813T:p.S1938L,EVPL:NM_001988:exon22:c.C5747T:p.S1916L, chr17 74003539 74003539 G A het . 3 +line34676 stopgain MFSD11:NM_024311:exon14:c.C1215A:p.Y405X,MFSD11:NM_001242536:exon12:c.C1059A:p.Y353X,MFSD11:NM_001242535:exon14:c.C1215A:p.Y405X,MFSD11:NM_001242532:exon13:c.C1215A:p.Y405X,MFSD11:NM_001242533:exon14:c.C1215A:p.Y405X,MFSD11:NM_001353019:exon14:c.C1215A:p.Y405X,MFSD11:NM_001353018:exon14:c.C1215A:p.Y405X,MFSD11:NM_001353017:exon14:c.C1215A:p.Y405X,MFSD11:NM_001242537:exon12:c.C1059A:p.Y353X,MFSD11:NM_001242534:exon14:c.C1215A:p.Y405X, chr17 74774299 74774299 C A het . 19 +line34690 nonsynonymous SNV DNAH17:NM_173628:exon22:c.C3433T:p.P1145S, chr17 76525628 76525628 G A het . 19 +line34694 nonframeshift deletion USP36:NM_001321291:exon17:c.2874_2879del:p.958_960del, chr17 76798549 76798554 TTTTTC - het . 24 +line34708 nonsynonymous SNV CBX8:NM_020649:exon5:c.G1117T:p.V373F, chr17 77768487 77768487 C A het . 8 +line34717 nonsynonymous SNV CCDC40:NM_001243342:exon18:c.G2910C:p.K970N, chr17 78064015 78064015 G C het . 8 +line34718 synonymous SNV CCDC40:NM_017950:exon20:c.A3417G:p.P1139P, chr17 78073562 78073562 A G het . 14 +line34720 nonsynonymous SNV GAA:NM_001079804:exon17:c.G2338A:p.V780I,GAA:NM_000152:exon17:c.G2338A:p.V780I,GAA:NM_001079803:exon18:c.G2338A:p.V780I, chr17 78091405 78091405 G A het . 12 +line34724 synonymous SNV CARD14:NM_001257970:exon10:c.G1371A:p.S457S,CARD14:NM_052819:exon7:c.G660A:p.S220S,CARD14:NM_024110:exon10:c.G1371A:p.S457S, chr17 78169004 78169004 G A het . 3 +line34725 synonymous SNV SLC26A11:NM_001166347:exon4:c.C288T:p.T96T,SLC26A11:NM_173626:exon4:c.C288T:p.T96T,SLC26A11:NM_001166348:exon3:c.C288T:p.T96T,SLC26A11:NM_001166349:exon3:c.C288T:p.T96T, chr17 78196507 78196507 C T het . 10 +line34727 nonsynonymous SNV RNF213:NM_020954:exon6:c.C965G:p.A322G,RNF213:NM_001256071:exon6:c.C965G:p.A322G, chr17 78263489 78263489 C G het . 41 +line34732 nonsynonymous SNV RNF213:NM_020954:exon17:c.C2967A:p.D989E,RNF213:NM_001256071:exon17:c.C2967A:p.D989E, chr17 78293055 78293055 C A het . 31 +line34733 nonsynonymous SNV RNF213:NM_001256071:exon20:c.C3397A:p.Q1133K, chr17 78302157 78302157 C A het . 11 +line34736 nonsynonymous SNV RNF213:NM_001256071:exon29:c.C9242A:p.T3081N, chr17 78321377 78321377 C A het . 30 +line34744 nonsynonymous SNV BAIAP2:NM_017451:exon6:c.C460A:p.P154T,BAIAP2:NM_006340:exon6:c.C460A:p.P154T,BAIAP2:NM_017450:exon6:c.C460A:p.P154T,BAIAP2:NM_001144888:exon6:c.C460A:p.P154T, chr17 79060351 79060351 C A het . 20 +line34754 unknown UNKNOWN chr17 79409710 79409710 G A het . 3 +line34756 nonsynonymous SNV ACTG1:NM_001614:exon2:c.G76T:p.A26S,ACTG1:NM_001199954:exon2:c.G76T:p.A26S, chr17 79479305 79479305 C A het . 45 +line34757 stopgain FSCN2:NM_012418:exon1:c.C630A:p.Y210X,FSCN2:NM_001077182:exon1:c.C630A:p.Y210X, chr17 79496187 79496187 C A het . 20 +line34758 nonsynonymous SNV FSCN2:NM_012418:exon4:c.C1188A:p.H396Q,FSCN2:NM_001077182:exon4:c.C1260A:p.H420Q, chr17 79503730 79503730 C A het . 14 +line34766 unknown UNKNOWN chr17 79612333 79612333 G A het . 3 +line34771 nonsynonymous SNV CCDC137:NM_199287:exon6:c.G820A:p.G274R, chr17 79639684 79639684 G A het . 4 +line34782 nonsynonymous SNV FASN:NM_004104:exon41:c.G7057T:p.A2353S, chr17 80038105 80038105 C A het . 19 +line34783 nonsynonymous SNV FASN:NM_004104:exon14:c.C2285T:p.A762V, chr17 80046864 80046864 G A het . 20 +line34785 synonymous SNV SLC16A3:NM_001042423:exon4:c.T936C:p.G312G,SLC16A3:NM_001206952:exon4:c.T936C:p.G312G,SLC16A3:NM_001206951:exon4:c.T936C:p.G312G,SLC16A3:NM_001042422:exon4:c.T936C:p.G312G,SLC16A3:NM_001206950:exon4:c.T936C:p.G312G,SLC16A3:NM_004207:exon4:c.T936C:p.G312G, chr17 80195582 80195582 T C het . 26 +line34789 synonymous SNV FN3KRP:NM_024619:exon1:c.C12G:p.L4L, chr17 80674643 80674643 C G het . 2 +line34797 nonsynonymous SNV THOC1:NM_005131:exon12:c.G925T:p.D309Y, chr18 226895 226895 C A het . 17 +line34806 nonsynonymous SNV CETN1:NM_004066:exon1:c.C167A:p.A56D, chr18 580575 580575 C A het . 25 +line34813 synonymous SNV YES1:NM_005433:exon11:c.A1326G:p.E442E, chr18 732931 732931 T C het . 28 +line34888 frameshift deletion TGIF1:NM_170695:exon1:c.246delT:p.P82fs, chr18 3452223 3452223 T - het . 14 +line34889 nonsynonymous SNV TGIF1:NM_173209:exon2:c.C136A:p.Q46K,TGIF1:NM_173208:exon3:c.C196A:p.Q66K,TGIF1:NM_001278682:exon2:c.C205A:p.Q69K,TGIF1:NM_174886:exon3:c.C136A:p.Q46K,TGIF1:NM_173207:exon2:c.C238A:p.Q80K,TGIF1:NM_003244:exon2:c.C196A:p.Q66K,TGIF1:NM_001278686:exon3:c.C136A:p.Q46K,TGIF1:NM_170695:exon2:c.C583A:p.Q195K,TGIF1:NM_001278684:exon3:c.C196A:p.Q66K,TGIF1:NM_173210:exon2:c.C136A:p.Q46K,TGIF1:NM_173211:exon2:c.C136A:p.Q46K, chr18 3456531 3456531 C A het . 29 +line34897 nonsynonymous SNV DLGAP1:NM_001003809:exon2:c.G89T:p.G30V,DLGAP1:NM_001242761:exon5:c.G995T:p.G332V,DLGAP1:NM_001242763:exon2:c.G131T:p.G44V,DLGAP1:NM_001242762:exon2:c.G131T:p.G44V,DLGAP1:NM_001308390:exon2:c.G113T:p.G38V,DLGAP1:NM_004746:exon5:c.G995T:p.G332V,DLGAP1:NM_001242764:exon2:c.G113T:p.G38V,DLGAP1:NM_001242765:exon2:c.G89T:p.G30V,DLGAP1:NM_001242766:exon2:c.G89T:p.G30V, chr18 3814236 3814236 C A het . 27 +line34922 nonsynonymous SNV L3MBTL4:NM_173464:exon15:c.G1342A:p.G448R,L3MBTL4:NM_001330559:exon15:c.G1342A:p.G448R, chr18 6093385 6093385 C T het . 21 +line34945 nonsynonymous SNV LAMA1:NM_005559:exon61:c.G8733T:p.Q2911H, chr18 6947273 6947273 C A het . 41 +line34946 nonsynonymous SNV LAMA1:NM_005559:exon59:c.G8501T:p.G2834V, chr18 6949155 6949155 C A het . 30 +line34949 nonsynonymous SNV LAMA1:NM_005559:exon33:c.G4710T:p.E1570D, chr18 6997837 6997837 C A het . 33 +line34993 nonsynonymous SNV PPP4R1:NM_005134:exon20:c.A2642G:p.Y881C,PPP4R1:NM_001042388:exon20:c.A2693G:p.Y898C, chr18 9547947 9547947 T C het . 11 +line35020 nonsynonymous SNV PIEZO2:NM_022068:exon33:c.G4832A:p.R1611Q, chr18 10731428 10731428 C T het . 20 +line35025 synonymous SNV PIEZO2:NM_022068:exon16:c.C2305T:p.L769L, chr18 10787047 10787047 G A het . 26 +line35027 nonsynonymous SNV PIEZO2:NM_022068:exon6:c.G654C:p.M218I, chr18 10857048 10857048 C G het . 43 +line35038 nonframeshift substitution SLC35G4:NM_001282300:exon1:c.309_310GG, chr18 11609903 11609904 CA GG het . 13 +line35039 synonymous SNV SLC35G4:NM_001282300:exon1:c.C384T:p.G128G, chr18 11609978 11609978 C T het . 22 +line35040 synonymous SNV SLC35G4:NM_001282300:exon1:c.T387C:p.N129N, chr18 11609981 11609981 T C het . 23 +line35041 nonsynonymous SNV SLC35G4:NM_001282300:exon1:c.C400T:p.R134C, chr18 11609994 11609994 C T het . 15 +line35042 nonsynonymous SNV SLC35G4:NM_001282300:exon1:c.A407G:p.H136R, chr18 11610001 11610001 A G het . 15 +line35067 nonsynonymous SNV CIDEA:NM_001318383:exon1:c.C13T:p.R5W, chr18 12254828 12254828 C T het . 21 +line35088 nonsynonymous SNV SEH1L:NM_001013437:exon4:c.C395A:p.T132N,SEH1L:NM_031216:exon4:c.C395A:p.T132N, chr18 12963244 12963244 C A het . 32 +line35093 nonsynonymous SNV CEP192:NM_032142:exon19:c.G4093A:p.V1365M, chr18 13056682 13056682 G A het . 7 +line35094 nonsynonymous SNV CEP192:NM_032142:exon26:c.A4970G:p.H1657R, chr18 13069095 13069095 A G het . 15 +line35137 nonsynonymous SNV ANKRD30B:NM_001145029:exon7:c.C912G:p.D304E, chr18 14763776 14763776 C G het . 75 +line35247 stopgain GREB1L:NM_001142966:exon6:c.C574T:p.R192X, chr18 18981152 18981152 C T het . 35 +line35252 nonframeshift insertion GREB1L:NM_001142966:exon32:c.5582_5583insTCT:p.D1861delinsDL, chr18 19100758 19100758 - TCT het . 13 +line35301 nonsynonymous SNV NPC1:NM_000271:exon12:c.G1926C:p.M642I, chr18 21124945 21124945 C G het . 15 +line35320 nonsynonymous SNV HRH4:NM_001143828:exon2:c.C232A:p.P78T,HRH4:NM_021624:exon3:c.C496A:p.P166T, chr18 22056849 22056849 C A het . 46 +line35321 nonsynonymous SNV HRH4:NM_001143828:exon2:c.C386A:p.T129N,HRH4:NM_021624:exon3:c.C650A:p.T217N, chr18 22057003 22057003 C A het . 38 +line35343 nonsynonymous SNV ZNF521:NM_015461:exon6:c.G3680T:p.C1227F,ZNF521:NM_001308225:exon5:c.G3020T:p.C1007F, chr18 22672024 22672024 C A het . 42 +line35398 nonsynonymous SNV DSC3:NM_001941:exon16:c.G2585T:p.G862V, chr18 28574247 28574247 C A het . 34 +line35409 nonsynonymous SNV DSG4:NM_001134453:exon9:c.C1072A:p.H358N,DSG4:NM_177986:exon9:c.C1072A:p.H358N, chr18 28979301 28979301 C A het . 35 +line35411 nonsynonymous SNV DSG3:NM_001944:exon9:c.C1232A:p.A411D, chr18 29044306 29044306 C A het . 14 +line35413 nonsynonymous SNV DSG2:NM_001943:exon15:c.C2804A:p.A935E, chr18 29126153 29126153 C A het . 18 +line35416 nonsynonymous SNV SLC25A52:NM_001034172:exon1:c.G367T:p.V123F, chr18 29340288 29340288 C A het . 25 +line35430 stopgain ASXL3:NM_030632:exon12:c.C3653A:p.S1218X, chr18 31323465 31323465 C A het . 10 +line35431 synonymous SNV ASXL3:NM_030632:exon12:c.C4239T:p.V1413V, chr18 31324051 31324051 C T het . 28 +line35435 nonsynonymous SNV ZSCAN30:NM_001166012:exon5:c.G561T:p.R187S,ZSCAN30:NM_001112734:exon4:c.G561T:p.R187S, chr18 32834338 32834338 C A het . 32 +line35436 nonsynonymous SNV ZSCAN30:NM_001166012:exon3:c.G64T:p.V22F,ZSCAN30:NM_001112734:exon2:c.G64T:p.V22F, chr18 32844253 32844253 C A het . 22 +line35443 nonsynonymous SNV SLC39A6:NM_012319:exon2:c.G357C:p.E119D, chr18 33706614 33706614 C G het . 18 +line35497 nonsynonymous SNV SETBP1:NM_015559:exon4:c.C2580A:p.H860Q, chr18 42531885 42531885 C A het . 24 +line35509 nonsynonymous SNV EPG5:NM_020964:exon23:c.C4181T:p.P1394L, chr18 43490510 43490510 G A het . 9 +line35522 nonsynonymous SNV LOXHD1:NM_001145473:exon6:c.G708T:p.Q236H,LOXHD1:NM_144612:exon37:c.G5805T:p.Q1935H,LOXHD1:NM_001173129:exon6:c.G708T:p.Q236H,LOXHD1:NM_001145472:exon20:c.G2658T:p.Q886H,LOXHD1:NM_001308013:exon18:c.G2370T:p.Q790H, chr18 44068993 44068993 C A het . 10 +line35527 synonymous SNV ST8SIA5:NM_001307986:exon2:c.G180A:p.T60T, chr18 44301384 44301384 C T het . 17 +line35535 nonsynonymous SNV SKOR2:NM_001037802:exon3:c.G873T:p.E291D, chr18 44757512 44757512 C A het . 41 +line35554 stopgain DYM:NM_017653:exon14:c.C1513T:p.Q505X,DYM:NM_001353212:exon15:c.C1675T:p.Q559X,DYM:NM_001353216:exon14:c.C1513T:p.Q505X,DYM:NM_001353210:exon14:c.C1510T:p.Q504X,DYM:NM_001353211:exon14:c.C1510T:p.Q504X,DYM:NM_001353213:exon15:c.C1675T:p.Q559X,DYM:NM_001353214:exon15:c.C1678T:p.Q560X,DYM:NM_001353215:exon15:c.C1678T:p.Q560X, chr18 46690105 46690105 G A het . 39 +line35561 synonymous SNV C18orf32:NM_001035005:exon3:c.A195G:p.K65K,C18orf32:NM_001199346:exon3:c.A195G:p.K65K, chr18 47008751 47008751 T C het . 27 +line35574 nonsynonymous SNV MYO5B:NM_001080467:exon8:c.G921T:p.K307N, chr18 47511113 47511113 C A het . 23 +line35575 nonsynonymous SNV MYO5B:NM_001080467:exon8:c.G909T:p.E303D, chr18 47511125 47511125 C A het . 25 +line35580 synonymous SNV CXXC1:NM_014593:exon7:c.C910T:p.L304L,CXXC1:NM_001101654:exon7:c.C910T:p.L304L, chr18 47811374 47811374 G A het . 9 +line35581 synonymous SNV CXXC1:NM_014593:exon5:c.G630T:p.L210L,CXXC1:NM_001101654:exon5:c.G630T:p.L210L, chr18 47812128 47812128 C A het . 14 +line35597 synonymous SNV DCC:NM_005215:exon13:c.A1959G:p.G653G, chr18 50831995 50831995 A G het . 45 +line35699 nonsynonymous SNV ATP8B1:NM_005603:exon27:c.G3526T:p.D1176Y, chr18 55317604 55317604 C A het . 21 +line35707 nonsynonymous SNV ALPK2:NM_052947:exon5:c.C4345T:p.P1449S, chr18 56203074 56203074 G A het . 15 +line35708 nonframeshift deletion ALPK2:NM_052947:exon5:c.3017_3031del:p.1006_1011del, chr18 56204388 56204402 CAGTTGATGTGTCCT - het . 12 +line35709 synonymous SNV ALPK2:NM_052947:exon5:c.G3009A:p.R1003R, chr18 56204410 56204410 C T het . 14 +line35721 nonsynonymous SNV RNF152:NM_173557:exon2:c.G378T:p.Q126H, chr18 59483319 59483319 C A het . 8 +line35730 synonymous SNV SERPINB11:NM_001291279:exon7:c.T591G:p.L197L, chr18 61390570 61390570 T G het . 2 +line35731 nonsynonymous SNV SERPINB8:NM_001348368:exon3:c.G203A:p.R68Q,SERPINB8:NM_001348369:exon3:c.G203A:p.R68Q,SERPINB8:NM_001031848:exon3:c.G203A:p.R68Q,SERPINB8:NM_198833:exon3:c.G203A:p.R68Q,SERPINB8:NM_002640:exon3:c.G203A:p.R68Q,SERPINB8:NM_001348367:exon3:c.G203A:p.R68Q, chr18 61647069 61647069 G A het . 18 +line35754 nonsynonymous SNV NETO1:NM_001354017:exon9:c.G1442A:p.S481N,NETO1:NM_001201465:exon9:c.G1442A:p.S481N,NETO1:NM_001354020:exon9:c.G1418A:p.S473N,NETO1:NM_138966:exon9:c.G1442A:p.S481N,NETO1:NM_001354018:exon10:c.G1016A:p.S339N, chr18 70417396 70417396 C T het . 3 +line35768 nonframeshift insertion CNDP1:NM_032649:exon2:c.43_44insTGC:p.V15delinsVL, chr18 72223591 72223591 - TGC het . 6 +line35769 nonsynonymous SNV CNDP1:NM_032649:exon4:c.A337G:p.I113V, chr18 72228124 72228124 A G het . 11 +line35771 synonymous SNV ZNF407:NM_001146189:exon1:c.T2583C:p.S861S,ZNF407:NM_001146190:exon1:c.T2583C:p.S861S,ZNF407:NM_017757:exon1:c.T2583C:p.S861S, chr18 72345558 72345558 T C het . 7 +line35790 nonsynonymous SNV SALL3:NM_171999:exon2:c.A1597G:p.T533A, chr18 76753588 76753588 A G het . 5 +line35800 synonymous SNV PLPP2:NM_177543:exon2:c.C225T:p.H75H,PLPP2:NM_003712:exon2:c.C162T:p.H54H, chr19 288062 288062 G A het . 6 +line35803 nonsynonymous SNV SHC2:NM_012435:exon1:c.G329C:p.G110A, chr19 460668 460668 C G het . 3 +line35809 synonymous SNV ARID3A:NM_005224:exon9:c.A1650G:p.G550G, chr19 971933 971933 A G het . 10 +line35810 nonsynonymous SNV ARID3A:NM_005224:exon9:c.G1666A:p.G556S, chr19 971949 971949 G A het . 9 +line35811 nonsynonymous SNV GRIN3B:NM_138690:exon1:c.C349T:p.H117Y, chr19 1000785 1000785 C T het . 8 +line35812 synonymous SNV GRIN3B:NM_138690:exon1:c.G363C:p.A121A, chr19 1000799 1000799 G C het . 7 +line35813 nonsynonymous SNV ABCA7:NM_019112:exon33:c.G4580C:p.G1527A, chr19 1056492 1056492 G C het . 7 +line35826 synonymous SNV GAMT:NM_138924:exon5:c.G735A:p.A245A, chr19 1398750 1398750 C T het . 13 +line35828 nonsynonymous SNV APC2:NM_005883:exon15:c.C3044T:p.P1015L,APC2:NM_001351273:exon14:c.C3041T:p.P1014L, chr19 1466344 1466344 C T het . 7 +line35829 synonymous SNV APC2:NM_005883:exon15:c.A4384C:p.R1462R,APC2:NM_001351273:exon14:c.A4381C:p.R1461R, chr19 1467684 1467684 A C het . 3 +line35832 nonsynonymous SNV PLK5:NM_001243079:exon14:c.C831A:p.S277R, chr19 1535069 1535069 C A het . 1 +line35833 synonymous SNV PLK5:NM_001243079:exon14:c.G846A:p.P282P, chr19 1535084 1535084 G A het . 2 +line35837 nonsynonymous SNV REXO1:NM_020695:exon2:c.C636G:p.H212Q, chr19 1828152 1828152 G C het . 5 +line35856 unknown UNKNOWN chr19 2339958 2339958 T C het . 12 +line35878 nonsynonymous SNV ZNF77:NM_021217:exon4:c.G500A:p.C167Y, chr19 2934625 2934625 C T het . 10 +line35880 synonymous SNV TLE6:NM_024760:exon12:c.T789C:p.D263D,TLE6:NM_001143986:exon13:c.T1158C:p.D386D, chr19 2989697 2989697 T C het . 9 +line35883 frameshift deletion TLE2:NM_001144762:exon18:c.1831delG:p.D611fs,TLE2:NM_003260:exon20:c.2197delG:p.D733fs,TLE2:NM_001300846:exon20:c.2200delG:p.D734fs, chr19 2997881 2997881 C - het . 14 +line35884 synonymous SNV TLE2:NM_001144762:exon18:c.C1815T:p.I605I,TLE2:NM_003260:exon20:c.C2181T:p.I727I,TLE2:NM_001300846:exon20:c.C2184T:p.I728I, chr19 2997897 2997897 G A het . 17 +line35885 nonsynonymous SNV AES:NM_198969:exon1:c.G131T:p.R44L, chr19 3062795 3062795 C A het . 14 +line35893 nonsynonymous SNV C19orf71:NM_001135580:exon2:c.C112T:p.R38C, chr19 3543261 3543261 C T het . 7 +line35897 synonymous SNV TJP3:NM_001267560:exon4:c.C174T:p.I58I,TJP3:NM_001267561:exon4:c.C201T:p.I67I, chr19 3730041 3730041 C T het . 12 +line35901 nonsynonymous SNV ZFR2:NM_015174:exon5:c.C704T:p.P235L, chr19 3831449 3831449 G A het . 7 +line35902 nonsynonymous SNV ZFR2:NM_015174:exon2:c.G172A:p.G58S, chr19 3834863 3834863 C T het . 3 +line35914 nonsynonymous SNV ANKRD24:NM_133475:exon9:c.C545A:p.A182E, chr19 4207505 4207505 C A het . 13 +line35915 nonsynonymous SNV ANKRD24:NM_133475:exon18:c.G1703A:p.G568E, chr19 4216860 4216860 G A het . 16 +line35916 nonsynonymous SNV ANKRD24:NM_133475:exon18:c.G1753A:p.E585K, chr19 4216910 4216910 G A het . 21 +line35917 nonsynonymous SNV ANKRD24:NM_133475:exon18:c.T2050G:p.S684A, chr19 4217207 4217207 T G het . 11 +line35919 synonymous SNV MPND:NM_032868:exon4:c.A597G:p.A199A,MPND:NM_001159846:exon4:c.A597G:p.A199A,MPND:NM_001300862:exon4:c.A597G:p.A199A, chr19 4352959 4352959 A G het . 2 +line35920 nonsynonymous SNV MPND:NM_032868:exon4:c.T602G:p.V201G,MPND:NM_001159846:exon4:c.T602G:p.V201G,MPND:NM_001300862:exon4:c.T602G:p.V201G, chr19 4352964 4352964 T G het . 1 +line35921 nonsynonymous SNV CHAF1A:NM_005483:exon14:c.C2768T:p.A923V, chr19 4442336 4442336 C T het . 8 +line35926 frameshift deletion HDGFL2:NM_001001520:exon14:c.1721_1722del:p.K574fs,HDGFL2:NM_032631:exon14:c.1721_1722del:p.K574fs,HDGFL2:NM_001348169:exon14:c.1793_1794del:p.K598fs, chr19 4499633 4499647 AGCTGGCCGGGGAGG - het . 7 +line35928 nonsynonymous SNV PLIN4:NM_001080400:exon3:c.A2580T:p.K860N, chr19 4511350 4511350 T A het . 16 +line35929 nonsynonymous SNV PLIN4:NM_001080400:exon3:c.C2477T:p.A826V, chr19 4511453 4511453 G A het . 19 +line35930 nonsynonymous SNV PLIN4:NM_001080400:exon3:c.T2405C:p.M802T, chr19 4511525 4511525 A G het . 14 +line35931 nonsynonymous SNV PLIN4:NM_001080400:exon3:c.A1975G:p.S659G, chr19 4511955 4511955 T C het . 11 +line35932 synonymous SNV PLIN4:NM_001080400:exon3:c.C1416G:p.G472G, chr19 4512514 4512514 G C het . 10 +line35933 nonsynonymous SNV PLIN4:NM_001080400:exon3:c.A1261G:p.T421A, chr19 4512669 4512669 T C het . 15 +line35934 synonymous SNV PLIN4:NM_001080400:exon3:c.A1182G:p.T394T, chr19 4512748 4512748 T C het . 16 +line35942 nonsynonymous SNV PLIN3:NM_001164189:exon6:c.T824C:p.V275A,PLIN3:NM_005817:exon6:c.T824C:p.V275A,PLIN3:NM_001164194:exon6:c.T788C:p.V263A, chr19 4847713 4847713 A G het . 2 +line35944 nonsynonymous SNV PLIN3:NM_001164189:exon4:c.C319A:p.L107I,PLIN3:NM_005817:exon4:c.C319A:p.L107I,PLIN3:NM_001164194:exon4:c.C319A:p.L107I, chr19 4859631 4859631 G T het . 17 +line35948 unknown UNKNOWN chr19 4954679 4954679 - C het . 3 +line35980 nonframeshift deletion GTF2F1:NM_002096:exon9:c.976_978del:p.326_326del, chr19 6381410 6381412 CTC - het . 6 +line35984 synonymous SNV TUBB4A:NM_001289131:exon4:c.G699A:p.P233P,TUBB4A:NM_001289127:exon5:c.G1050A:p.P350P,TUBB4A:NM_001289129:exon5:c.G915A:p.P305P,TUBB4A:NM_001289130:exon4:c.G699A:p.P233P,TUBB4A:NM_001289123:exon5:c.G1068A:p.P356P,TUBB4A:NM_006087:exon4:c.G915A:p.P305P, chr19 6495595 6495595 C T het . 26 +line35986 nonsynonymous SNV C3:NM_000064:exon27:c.G3439T:p.V1147F, chr19 6690690 6690690 C A het . 32 +line35988 nonsynonymous SNV C3:NM_000064:exon19:c.G2373T:p.M791I, chr19 6702205 6702205 C A het . 38 +line35991 nonsynonymous SNV C3:NM_000064:exon3:c.G312T:p.K104N, chr19 6718379 6718379 C A het . 17 +line35992 nonsynonymous SNV C3:NM_000064:exon3:c.C304G:p.R102G, chr19 6718387 6718387 G C het . 15 +line35998 nonsynonymous SNV ADGRE1:NM_001256252:exon3:c.G169A:p.A57T,ADGRE1:NM_001256253:exon3:c.G169A:p.A57T,ADGRE1:NM_001256255:exon3:c.G169A:p.A57T,ADGRE1:NM_001256254:exon3:c.G169A:p.A57T,ADGRE1:NM_001974:exon3:c.G169A:p.A57T, chr19 6896483 6896483 G A het . 16 +line35999 synonymous SNV ADGRE1:NM_001256252:exon3:c.C183A:p.G61G,ADGRE1:NM_001256253:exon3:c.C183A:p.G61G,ADGRE1:NM_001256255:exon3:c.C183A:p.G61G,ADGRE1:NM_001256254:exon3:c.C183A:p.G61G,ADGRE1:NM_001974:exon3:c.C183A:p.G61G, chr19 6896497 6896497 C A het . 15 +line36013 nonsynonymous SNV INSR:NM_000208:exon6:c.G1453T:p.A485S,INSR:NM_001079817:exon6:c.G1453T:p.A485S, chr19 7170578 7170578 C A het . 38 +line36019 nonsynonymous SNV ARHGEF18:NM_001130955:exon16:c.C2842A:p.R948S,ARHGEF18:NM_015318:exon17:c.C2368A:p.R790S, chr19 7532496 7532496 C A het . 4 +line36021 nonframeshift deletion ZNF358:NM_018083:exon2:c.1210_1236del:p.404_412del, chr19 7585338 7585364 GCAGCTGCCGCGGCCGCTGCAGCTGCA - het . 6 +line36022 synonymous SNV MCOLN1:NM_020533:exon8:c.C984T:p.N328N, chr19 7593589 7593589 C T het . 38 +line36028 synonymous SNV PNPLA6:NM_001166111:exon16:c.C1731G:p.P577P,PNPLA6:NM_001166114:exon14:c.C1704G:p.P568P,PNPLA6:NM_001166112:exon16:c.C1509G:p.P503P,PNPLA6:NM_001166113:exon17:c.C1587G:p.P529P,PNPLA6:NM_006702:exon17:c.C1587G:p.P529P, chr19 7614888 7614888 C G het . 25 +line36049 synonymous SNV CAMSAP3:NM_001080429:exon8:c.C849T:p.C283C,CAMSAP3:NM_020902:exon6:c.C768T:p.C256C, chr19 7675369 7675369 C T het . 6 +line36051 nonsynonymous SNV CAMSAP3:NM_001080429:exon15:c.G3064A:p.D1022N,CAMSAP3:NM_020902:exon13:c.G2983A:p.D995N, chr19 7680476 7680476 G A het . 4 +line36055 synonymous SNV XAB2:NM_020196:exon1:c.C21T:p.L7L, chr19 7694393 7694393 G A het . 19 +line36057 nonsynonymous SNV PCP2:NM_174895:exon3:c.A173C:p.D58A,PCP2:NM_001271830:exon3:c.A125C:p.D42A, chr19 7697397 7697397 T G het . 4 +line36058 synonymous SNV PCP2:NM_174895:exon1:c.G24A:p.T8T, chr19 7698320 7698320 C T het . 19 +line36063 synonymous SNV STXBP2:NM_001127396:exon16:c.T1434C:p.D478D,STXBP2:NM_006949:exon16:c.T1443C:p.D481D,STXBP2:NM_001272034:exon16:c.T1476C:p.D492D, chr19 7711221 7711221 T C het . 25 +line36065 nonsynonymous SNV STXBP2:NM_001127396:exon18:c.A1567G:p.I523V,STXBP2:NM_006949:exon18:c.A1576G:p.I526V,STXBP2:NM_001272034:exon18:c.A1609G:p.I537V, chr19 7712277 7712277 A G het . 22 +line36071 synonymous SNV TRAPPC5:NM_174894:exon2:c.G306A:p.A102A,TRAPPC5:NM_001042462:exon2:c.G306A:p.A102A,TRAPPC5:NM_001042461:exon2:c.G306A:p.A102A, chr19 7747445 7747445 G A het . 14 +line36072 synonymous SNV FCER2:NM_001220500:exon10:c.C717T:p.H239H,FCER2:NM_002002:exon10:c.C717T:p.H239H,FCER2:NM_001207019:exon9:c.C714T:p.H238H, chr19 7755056 7755056 G A het . 13 +line36129 synonymous SNV EVI5L:NM_001159944:exon19:c.T2292C:p.Y764Y,EVI5L:NM_145245:exon19:c.T2259C:p.Y753Y, chr19 7928462 7928462 T C het . 7 +line36132 synonymous SNV LRRC8E:NM_001268284:exon4:c.A507C:p.V169V,LRRC8E:NM_025061:exon3:c.A507C:p.V169V,LRRC8E:NM_001268285:exon2:c.A120C:p.V40V, chr19 7963914 7963914 A C het . 19 +line36133 nonsynonymous SNV LRRC8E:NM_001268284:exon4:c.A542G:p.E181G,LRRC8E:NM_025061:exon3:c.A542G:p.E181G,LRRC8E:NM_001268285:exon2:c.A155G:p.E52G, chr19 7963949 7963949 A G het . 16 +line36134 nonsynonymous SNV LRRC8E:NM_001268284:exon4:c.T569C:p.M190T,LRRC8E:NM_025061:exon3:c.T569C:p.M190T,LRRC8E:NM_001268285:exon2:c.T182C:p.M61T, chr19 7963976 7963976 T C het . 9 +line36135 synonymous SNV LRRC8E:NM_001268284:exon4:c.G1320A:p.E440E,LRRC8E:NM_025061:exon3:c.G1320A:p.E440E,LRRC8E:NM_001268285:exon2:c.G933A:p.E311E, chr19 7964727 7964727 G A het . 16 +line36136 synonymous SNV LRRC8E:NM_001268284:exon4:c.C1932T:p.Y644Y,LRRC8E:NM_025061:exon3:c.C1932T:p.Y644Y,LRRC8E:NM_001268285:exon2:c.C1545T:p.Y515Y, chr19 7965339 7965339 C T het . 17 +line36139 synonymous SNV MAP2K7:NM_001297555:exon5:c.C420T:p.G140G,MAP2K7:NM_145185:exon4:c.C372T:p.G124G,MAP2K7:NM_001297556:exon4:c.C372T:p.G124G, chr19 7975183 7975183 C T het . 19 +line36142 nonsynonymous SNV SNAPC2:NM_003083:exon3:c.C352G:p.L118V, chr19 7986638 7986638 C G het . 10 +line36151 nonsynonymous SNV CCL25:NM_005624:exon4:c.A302G:p.H101R,CCL25:NM_001201359:exon4:c.A302G:p.H101R, chr19 8121360 8121360 A G het . 13 +line36152 synonymous SNV CCL25:NM_005624:exon5:c.G378A:p.S126S,CCL25:NM_001201359:exon5:c.G375A:p.S125S, chr19 8122737 8122737 G A het . 20 +line36153 synonymous SNV CCL25:NM_005624:exon5:c.T408C:p.S136S,CCL25:NM_001201359:exon5:c.T405C:p.S135S, chr19 8122767 8122767 T C het . 20 +line36157 nonframeshift substitution FBN3:NM_032447:exon63:c.8046_8047TT,FBN3:NM_001321431:exon63:c.8046_8047TT, chr19 8136973 8136974 GG AA het . 7 +line36161 synonymous SNV FBN3:NM_032447:exon53:c.T6603C:p.D2201D,FBN3:NM_001321431:exon53:c.T6603C:p.D2201D, chr19 8152725 8152725 A G het . 13 +line36162 synonymous SNV FBN3:NM_032447:exon49:c.G6177A:p.E2059E,FBN3:NM_001321431:exon49:c.G6177A:p.E2059E, chr19 8154990 8154990 C T het . 2 +line36164 nonsynonymous SNV FBN3:NM_032447:exon47:c.C5873A:p.P1958H,FBN3:NM_001321431:exon47:c.C5873A:p.P1958H, chr19 8159362 8159362 G T het . 17 +line36165 synonymous SNV FBN3:NM_032447:exon47:c.C5826A:p.P1942P,FBN3:NM_001321431:exon47:c.C5826A:p.P1942P, chr19 8159409 8159409 G T het . 18 +line36166 nonsynonymous SNV FBN3:NM_032447:exon46:c.C5710T:p.L1904F,FBN3:NM_001321431:exon46:c.C5710T:p.L1904F, chr19 8160334 8160334 G A het . 12 +line36172 nonsynonymous SNV FBN3:NM_032447:exon39:c.G4840A:p.G1614S,FBN3:NM_001321431:exon39:c.G4840A:p.G1614S, chr19 8168545 8168545 C T het . 17 +line36177 nonsynonymous SNV FBN3:NM_032447:exon31:c.G3932C:p.G1311A,FBN3:NM_001321431:exon31:c.G3932C:p.G1311A, chr19 8176890 8176890 C G het . 11 +line36178 synonymous SNV FBN3:NM_032447:exon31:c.G3903A:p.P1301P,FBN3:NM_001321431:exon31:c.G3903A:p.P1301P, chr19 8176919 8176919 C T het . 13 +line36179 nonsynonymous SNV FBN3:NM_032447:exon31:c.A3877G:p.S1293G,FBN3:NM_001321431:exon31:c.A3877G:p.S1293G, chr19 8176945 8176945 T C het . 8 +line36181 synonymous SNV FBN3:NM_032447:exon28:c.C3465T:p.D1155D,FBN3:NM_001321431:exon28:c.C3465T:p.D1155D, chr19 8182174 8182174 G A het . 6 +line36183 nonsynonymous SNV FBN3:NM_032447:exon21:c.G2602A:p.D868N,FBN3:NM_001321431:exon21:c.G2602A:p.D868N, chr19 8191184 8191184 C T het . 14 +line36187 synonymous SNV FBN3:NM_032447:exon20:c.C2505T:p.C835C,FBN3:NM_001321431:exon20:c.C2505T:p.C835C, chr19 8191401 8191401 G A het . 14 +line36189 nonsynonymous SNV FBN3:NM_032447:exon15:c.G1984A:p.D662N,FBN3:NM_001321431:exon15:c.G1984A:p.D662N, chr19 8196444 8196444 C T het . 3 +line36190 synonymous SNV FBN3:NM_032447:exon15:c.C1920G:p.S640S,FBN3:NM_001321431:exon15:c.C1920G:p.S640S, chr19 8196508 8196508 G C het . 6 +line36196 nonsynonymous SNV FBN3:NM_032447:exon11:c.G1331A:p.R444H,FBN3:NM_001321431:exon11:c.G1331A:p.R444H, chr19 8201286 8201286 C T het . 7 +line36230 nonsynonymous SNV ANGPTL4:NM_139314:exon6:c.C797T:p.T266M,ANGPTL4:NM_001039667:exon5:c.C683T:p.T228M, chr19 8436164 8436164 C T het . 18 +line36246 synonymous SNV HNRNPM:NM_005968:exon14:c.T1782C:p.P594P,HNRNPM:NM_001297418:exon12:c.T1377C:p.P459P,HNRNPM:NM_031203:exon15:c.T1665C:p.P555P, chr19 8551094 8551094 T C het . 14 +line36248 synonymous SNV HNRNPM:NM_005968:exon16:c.C2085T:p.G695G,HNRNPM:NM_001297418:exon14:c.C1680T:p.G560G,HNRNPM:NM_031203:exon17:c.C1968T:p.G656G, chr19 8553630 8553630 C T het . 18 +line36250 synonymous SNV PRAM1:NM_032152:exon2:c.G1236C:p.A412A, chr19 8563456 8563456 C G het . 5 +line36251 nonsynonymous SNV PRAM1:NM_032152:exon1:c.A1G:p.M1V, chr19 8567475 8567475 T C het . 8 +line36254 synonymous SNV ZNF414:NM_001146175:exon2:c.T111C:p.P37P,ZNF414:NM_032370:exon2:c.T111C:p.P37P, chr19 8578118 8578118 A G het . 7 +line36255 synonymous SNV ZNF414:NM_001146175:exon2:c.A30G:p.P10P,ZNF414:NM_032370:exon2:c.A30G:p.P10P, chr19 8578199 8578199 T C het . 7 +line36263 nonsynonymous SNV ADAMTS10:NM_001282352:exon13:c.T1764G:p.H588Q,ADAMTS10:NM_030957:exon26:c.T3303G:p.H1101Q, chr19 8645786 8645786 A C het . 19 +line36264 synonymous SNV ADAMTS10:NM_001282352:exon7:c.T744C:p.P248P,ADAMTS10:NM_030957:exon20:c.T2283C:p.P761P, chr19 8651562 8651562 A G het . 15 +line36265 synonymous SNV ADAMTS10:NM_001282352:exon5:c.C618G:p.A206A,ADAMTS10:NM_030957:exon18:c.C2157G:p.A719A, chr19 8654127 8654127 G C het . 16 +line36266 nonsynonymous SNV ADAMTS10:NM_001282352:exon1:c.C191T:p.T64I, chr19 8656856 8656856 G A het . 11 +line36272 nonsynonymous SNV ADAMTS10:NM_030957:exon4:c.C401G:p.T134S, chr19 8669931 8669931 G C het . 10 +line36276 nonsynonymous SNV ACTL9:NM_178525:exon1:c.C679A:p.H227N, chr19 8808373 8808373 G T het . 6 +line36277 nonsynonymous SNV ACTL9:NM_178525:exon1:c.T152C:p.V51A, chr19 8808900 8808900 A G het . 5 +line36278 nonsynonymous SNV ACTL9:NM_178525:exon1:c.T110C:p.F37S, chr19 8808942 8808942 A G het . 4 +line36279 synonymous SNV OR2Z1:NM_001004699:exon1:c.T168C:p.H56H, chr19 8841558 8841558 T C het . 21 +line36280 synonymous SNV OR2Z1:NM_001004699:exon1:c.C198G:p.L66L, chr19 8841588 8841588 C G het . 11 +line36284 synonymous SNV MBD3L1:NM_145208:exon1:c.T447C:p.V149V, chr19 8953801 8953801 T C het . 21 +line36287 nonsynonymous SNV MUC16:NM_024690:exon83:c.G43396C:p.V14466L, chr19 8961981 8961981 C G het . 15 +line36292 nonsynonymous SNV MUC16:NM_024690:exon68:c.C41869A:p.Q13957K, chr19 8987218 8987218 G T het . 10 +line36301 synonymous SNV MUC16:NM_024690:exon56:c.G40722A:p.L13574L, chr19 8999453 8999453 C T het . 6 +line36303 nonsynonymous SNV MUC16:NM_024690:exon53:c.T40415C:p.M13472T, chr19 9001833 9001833 A G het . 10 +line36304 synonymous SNV MUC16:NM_024690:exon53:c.C40413T:p.P13471P, chr19 9001835 9001835 G A het . 10 +line36316 nonsynonymous SNV MUC16:NM_024690:exon49:c.G40022A:p.R13341H, chr19 9003618 9003618 C T het . 17 +line36320 nonsynonymous SNV MUC16:NM_024690:exon44:c.G39499A:p.V13167M, chr19 9006749 9006749 C T het . 7 +line36321 synonymous SNV MUC16:NM_024690:exon34:c.C38604T:p.Y12868Y, chr19 9012840 9012840 G A het . 26 +line36322 synonymous SNV MUC16:NM_024690:exon31:c.A38424G:p.R12808R, chr19 9014551 9014551 T C het . 2 +line36326 nonsynonymous SNV MUC16:NM_024690:exon22:c.G37541C:p.S12514T, chr19 9019605 9019605 C G het . 5 +line36327 synonymous SNV MUC16:NM_024690:exon21:c.T37341C:p.S12447S, chr19 9020154 9020154 A G het . 13 +line36329 synonymous SNV MUC16:NM_024690:exon15:c.T36850C:p.L12284L, chr19 9025604 9025604 A G het . 14 +line36330 nonsynonymous SNV MUC16:NM_024690:exon3:c.A26335G:p.T8779A, chr19 9061111 9061111 T C het . 14 +line36331 nonsynonymous SNV MUC16:NM_024690:exon3:c.T17252C:p.I5751T, chr19 9070194 9070194 A G het . 24 +line36332 nonsynonymous SNV MUC16:NM_024690:exon3:c.G13558A:p.A4520T, chr19 9073888 9073888 C T het . 9 +line36335 nonsynonymous SNV MUC16:NM_024690:exon1:c.C8024T:p.S2675L, chr19 9083791 9083791 G A het . 9 +line36336 nonsynonymous SNV MUC16:NM_024690:exon1:c.T5857C:p.S1953P, chr19 9085958 9085958 A G het . 17 +line36337 nonsynonymous SNV MUC16:NM_024690:exon1:c.C5670G:p.N1890K, chr19 9086145 9086145 G C het . 22 +line36338 synonymous SNV MUC16:NM_024690:exon1:c.C4968T:p.S1656S, chr19 9086847 9086847 G A het . 19 +line36339 nonsynonymous SNV MUC16:NM_024690:exon1:c.A4200T:p.K1400N, chr19 9087615 9087615 T A het . 30 +line36340 nonsynonymous SNV MUC16:NM_024690:exon1:c.A3798C:p.K1266N, chr19 9088017 9088017 T G het . 15 +line36341 nonsynonymous SNV MUC16:NM_024690:exon1:c.A1633G:p.T545A, chr19 9090182 9090182 T C het . 16 +line36342 nonsynonymous SNV MUC16:NM_024690:exon1:c.G1031A:p.R344K, chr19 9090784 9090784 C T het . 26 +line36348 synonymous SNV OR1M1:NM_001004456:exon1:c.A387G:p.P129P, chr19 9204307 9204307 A G het . 13 +line36349 nonsynonymous SNV OR7G2:NM_001005193:exon1:c.T904G:p.F302V, chr19 9213079 9213079 A C het . 15 +line36350 nonsynonymous SNV OR7G2:NM_001005193:exon1:c.T851C:p.V284A, chr19 9213132 9213132 A G het . 10 +line36353 nonsynonymous SNV OR7G1:NM_001005192:exon1:c.A755G:p.Y252C, chr19 9225685 9225685 T C het . 14 +line36354 nonsynonymous SNV OR7G1:NM_001005192:exon1:c.G423C:p.W141C, chr19 9226017 9226017 C G het . 12 +line36355 nonsynonymous SNV OR7G1:NM_001005192:exon1:c.T248C:p.V83A, chr19 9226192 9226192 A G het . 15 +line36356 synonymous SNV OR7G3:NM_001001958:exon1:c.T741C:p.V247V, chr19 9236886 9236886 A G het . 18 +line36357 synonymous SNV OR7G3:NM_001001958:exon1:c.T192C:p.S64S, chr19 9237435 9237435 A G het . 14 +line36359 nonsynonymous SNV ZNF317:NM_020933:exon3:c.G57T:p.Q19H,ZNF317:NM_001190791:exon3:c.G57T:p.Q19H, chr19 9267319 9267319 G T het . 24 +line36364 synonymous SNV OR7E24:NM_001079935:exon1:c.C657T:p.F219F, chr19 9362376 9362376 C T het . 18 +line36366 nonsynonymous SNV ZNF560:NM_001351678:exon10:c.G1522T:p.D508Y,ZNF560:NM_152476:exon10:c.G1840T:p.D614Y, chr19 9577783 9577783 C A het . 17 +line36376 nonsynonymous SNV OLFM2:NM_001304348:exon3:c.C146T:p.T49M,OLFM2:NM_058164:exon4:c.C380T:p.T127M,OLFM2:NM_001304347:exon4:c.C452T:p.T151M, chr19 9968139 9968139 G A het . 20 +line36377 nonsynonymous SNV OLFM2:NM_001304348:exon2:c.G83A:p.R28Q,OLFM2:NM_058164:exon3:c.G317A:p.R106Q,OLFM2:NM_001304347:exon3:c.G389A:p.R130Q, chr19 9968434 9968434 C T het . 25 +line36390 nonsynonymous SNV COL5A3:NM_015719:exon8:c.A964G:p.R322G, chr19 10112346 10112346 T C het . 8 +line36391 nonsynonymous SNV COL5A3:NM_015719:exon6:c.G838C:p.A280P, chr19 10114252 10114252 C G het . 14 +line36392 nonsynonymous SNV COL5A3:NM_015719:exon5:c.A676T:p.N226Y, chr19 10114740 10114740 T A het . 9 +line36394 nonsynonymous SNV RDH8:NM_015725:exon3:c.C468G:p.H156Q, chr19 10129552 10129552 C G het . 9 +line36395 nonframeshift substitution RDH8:NM_015725:exon5:c.665_666CA, chr19 10131999 10132000 TG CA het . 14 +line36410 nonsynonymous SNV C19orf66:NM_001308277:exon8:c.G763C:p.E255Q,C19orf66:NM_018381:exon8:c.G871C:p.E291Q, chr19 10202973 10202973 G C het . 7 +line36413 synonymous SNV PPAN:NM_001346139:exon4:c.C336G:p.V112V,PPAN-P2RY11:NM_001198690:exon4:c.C336G:p.V112V,PPAN:NM_001346141:exon3:c.C177G:p.V59V,PPAN-P2RY11:NM_001040664:exon4:c.C336G:p.V112V,PPAN:NM_020230:exon4:c.C336G:p.V112V, chr19 10218524 10218524 C G het . 5 +line36414 nonsynonymous SNV PPAN:NM_001346139:exon7:c.G613A:p.A205T,PPAN-P2RY11:NM_001198690:exon7:c.G616A:p.A206T,PPAN:NM_001346141:exon6:c.G457A:p.A153T,PPAN-P2RY11:NM_001040664:exon7:c.G616A:p.A206T,PPAN:NM_020230:exon7:c.G616A:p.A206T, chr19 10220614 10220614 G A het . 15 +line36416 nonsynonymous SNV PPAN-P2RY11:NM_001198690:exon13:c.C1559T:p.P520L, chr19 10224526 10224526 C T het . 6 +line36419 synonymous SNV EIF3G:NM_003755:exon10:c.T846C:p.F282F, chr19 10226256 10226256 A G het . 4 +line36431 synonymous SNV DNMT1:NM_001318731:exon21:c.A1419G:p.T473T,DNMT1:NM_001130823:exon21:c.A1782G:p.T594T,DNMT1:NM_001379:exon20:c.A1734G:p.T578T,DNMT1:NM_001318730:exon20:c.A1734G:p.T578T, chr19 10265312 10265312 T C het . 11 +line36432 synonymous SNV DNMT1:NM_001318731:exon18:c.A1026G:p.P342P,DNMT1:NM_001130823:exon18:c.A1389G:p.P463P,DNMT1:NM_001379:exon17:c.A1341G:p.P447P,DNMT1:NM_001318730:exon17:c.A1341G:p.P447P, chr19 10267077 10267077 T C het . 26 +line36439 synonymous SNV S1PR2:NM_004230:exon2:c.A919C:p.R307R, chr19 10334663 10334663 T G het . 6 +line36445 nonsynonymous SNV ICAM5:NM_003259:exon4:c.G901A:p.V301I, chr19 10402938 10402938 G A het . 10 +line36446 nonsynonymous SNV ICAM5:NM_003259:exon5:c.G1042A:p.A348T, chr19 10403368 10403368 G A het . 15 +line36448 synonymous SNV ICAM5:NM_003259:exon7:c.G1611A:p.E537E, chr19 10404519 10404519 G A het . 25 +line36449 synonymous SNV ICAM5:NM_003259:exon11:c.G2652C:p.L884L, chr19 10407169 10407169 G C het . 5 +line36452 nonsynonymous SNV ZGLP1:NM_001103167:exon4:c.A802G:p.I268V, chr19 10415781 10415781 T C het . 7 +line36459 nonsynonymous SNV ICAM3:NM_001320606:exon3:c.A197G:p.D66G,ICAM3:NM_001320605:exon3:c.A428G:p.D143G,ICAM3:NM_002162:exon3:c.A428G:p.D143G, chr19 10446568 10446568 T C het . 10 +line36460 nonsynonymous SNV ICAM3:NM_001320606:exon2:c.A112G:p.R38G,ICAM3:NM_001320605:exon2:c.A343G:p.R115G,ICAM3:NM_002162:exon2:c.A343G:p.R115G, chr19 10449358 10449358 T C het . 4 +line36461 synonymous SNV ICAM3:NM_001320606:exon2:c.T78C:p.S26S,ICAM3:NM_001320605:exon2:c.T309C:p.S103S,ICAM3:NM_002162:exon2:c.T309C:p.S103S, chr19 10449392 10449392 A G het . 7 +line36464 nonsynonymous SNV TYK2:NM_003331:exon15:c.T2051G:p.I684S, chr19 10469975 10469975 A C het . 22 +line36466 nonsynonymous SNV TYK2:NM_003331:exon8:c.G1084T:p.V362F, chr19 10475652 10475652 C A het . 10 +line36468 synonymous SNV PDE4A:NM_001243121:exon4:c.C258T:p.F86F,PDE4A:NM_001111308:exon2:c.C246T:p.F82F,PDE4A:NM_001111309:exon2:c.C141T:p.F47F,PDE4A:NM_001111307:exon2:c.C324T:p.F108F, chr19 10556897 10556897 C T het . 7 +line36473 synonymous SNV S1PR5:NM_030760:exon2:c.T621G:p.A207A,S1PR5:NM_001166215:exon2:c.T621G:p.A207A, chr19 10625067 10625067 A C het . 15 +line36474 synonymous SNV ATG4D:NM_001281504:exon6:c.C726T:p.P242P,ATG4D:NM_032885:exon6:c.C915T:p.P305P, chr19 10659659 10659659 C T het . 11 +line36477 synonymous SNV KRI1:NM_023008:exon15:c.T1497C:p.F499F, chr19 10668452 10668452 A G het . 38 +line36480 nonsynonymous SNV KRI1:NM_023008:exon7:c.A554C:p.E185A, chr19 10671894 10671894 T G het . 17 +line36481 nonsynonymous SNV KRI1:NM_023008:exon7:c.A542G:p.D181G, chr19 10671906 10671906 T C het . 21 +line36482 nonsynonymous SNV KRI1:NM_023008:exon5:c.G430A:p.G144R, chr19 10672493 10672493 C T het . 13 +line36484 synonymous SNV KRI1:NM_023008:exon2:c.C156T:p.S52S, chr19 10676423 10676423 G A het . 13 +line36485 nonsynonymous SNV KRI1:NM_023008:exon1:c.A13G:p.T5A, chr19 10676681 10676681 T C het . 6 +line36486 synonymous SNV CDKN2D:NM_079421:exon2:c.G90C:p.R30R,CDKN2D:NM_001800:exon1:c.G90C:p.R30R, chr19 10679240 10679240 C G het . 10 +line36491 synonymous SNV SLC44A2:NM_020428:exon4:c.C204T:p.D68D,SLC44A2:NM_001145056:exon4:c.C198T:p.D66D,SLC44A2:NM_001363611:exon4:c.C204T:p.D68D, chr19 10738639 10738639 C T het . 11 +line36496 nonsynonymous SNV SLC44A2:NM_020428:exon7:c.A461G:p.Q154R,SLC44A2:NM_001145056:exon7:c.A455G:p.Q152R,SLC44A2:NM_001363611:exon7:c.A461G:p.Q154R, chr19 10742170 10742170 A G het . 18 +line36508 synonymous SNV ILF3:NM_004516:exon17:c.G2043T:p.S681S,ILF3:NM_017620:exon17:c.G2055T:p.S685S,ILF3:NM_012218:exon17:c.G2043T:p.S681S,ILF3:NM_001137673:exon17:c.G2055T:p.S685S,ILF3:NM_153464:exon17:c.G2043T:p.S681S, chr19 10794630 10794630 G T het . 17 +line36517 nonsynonymous SNV C19orf38:NM_001136482:exon2:c.C121G:p.P41A, chr19 10961024 10961024 C G het . 2 +line36520 synonymous SNV SMARCA4:NM_001128849:exon9:c.T1524C:p.H508H,SMARCA4:NM_003072:exon9:c.T1524C:p.H508H,SMARCA4:NM_001128845:exon8:c.T1524C:p.H508H,SMARCA4:NM_001128844:exon10:c.T1524C:p.H508H,SMARCA4:NM_001128846:exon8:c.T1524C:p.H508H,SMARCA4:NM_001128847:exon8:c.T1524C:p.H508H,SMARCA4:NM_001128848:exon8:c.T1524C:p.H508H, chr19 11105608 11105608 T C het . 24 +line36531 synonymous SNV SMARCA4:NM_001128849:exon33:c.C4680T:p.D1560D,SMARCA4:NM_003072:exon32:c.C4584T:p.D1528D,SMARCA4:NM_001128845:exon30:c.C4494T:p.D1498D,SMARCA4:NM_001128844:exon33:c.C4584T:p.D1528D,SMARCA4:NM_001128846:exon30:c.C4491T:p.D1497D,SMARCA4:NM_001128847:exon30:c.C4485T:p.D1495D,SMARCA4:NM_001128848:exon30:c.C4482T:p.D1494D, chr19 11169514 11169514 C T het . 22 +line36532 synonymous SNV SMARCA4:NM_001128849:exon35:c.T4983C:p.D1661D,SMARCA4:NM_003072:exon34:c.T4887C:p.D1629D,SMARCA4:NM_001128845:exon32:c.T4797C:p.D1599D,SMARCA4:NM_001128844:exon35:c.T4887C:p.D1629D,SMARCA4:NM_001128846:exon32:c.T4794C:p.D1598D,SMARCA4:NM_001128847:exon32:c.T4788C:p.D1596D,SMARCA4:NM_001128848:exon32:c.T4785C:p.D1595D, chr19 11170839 11170839 T C het . 36 +line36538 synonymous SNV LDLR:NM_001195799:exon9:c.A1290G:p.R430R,LDLR:NM_000527:exon10:c.A1413G:p.R471R,LDLR:NM_001195800:exon8:c.A909G:p.R303R,LDLR:NM_001195798:exon10:c.A1413G:p.R471R,LDLR:NM_001195803:exon9:c.A1032G:p.R344R, chr19 11224265 11224265 A G het . 22 +line36540 synonymous SNV LDLR:NM_001195799:exon11:c.C1650T:p.N550N,LDLR:NM_000527:exon12:c.C1773T:p.N591N,LDLR:NM_001195800:exon10:c.C1269T:p.N423N,LDLR:NM_001195798:exon12:c.C1773T:p.N591N,LDLR:NM_001195803:exon11:c.C1392T:p.N464N, chr19 11227602 11227602 C T het . 42 +line36543 synonymous SNV LDLR:NM_001195799:exon12:c.T1836C:p.V612V,LDLR:NM_000527:exon13:c.T1959C:p.V653V,LDLR:NM_001195800:exon11:c.T1455C:p.V485V,LDLR:NM_001195798:exon13:c.T1959C:p.V653V,LDLR:NM_001195803:exon12:c.T1578C:p.V526V, chr19 11230881 11230881 T C het . 28 +line36544 synonymous SNV LDLR:NM_001195799:exon14:c.A2109G:p.R703R,LDLR:NM_000527:exon15:c.A2232G:p.R744R,LDLR:NM_001195800:exon13:c.A1728G:p.R576R,LDLR:NM_001195798:exon15:c.A2232G:p.R744R,LDLR:NM_001195803:exon13:c.A1698G:p.R566R, chr19 11233941 11233941 A G het . 24 +line36560 synonymous SNV DOCK6:NM_020812:exon39:c.C4959T:p.N1653N, chr19 11319491 11319491 G A het . 12 +line36562 synonymous SNV DOCK6:NM_020812:exon32:c.T4050C:p.N1350N, chr19 11326119 11326119 A G het . 11 +line36563 synonymous SNV DOCK6:NM_020812:exon32:c.G4044A:p.P1348P, chr19 11326125 11326125 C T het . 11 +line36566 synonymous SNV DOCK6:NM_020812:exon30:c.A3876G:p.L1292L, chr19 11327608 11327608 T C het . 17 +line36567 synonymous SNV DOCK6:NM_020812:exon30:c.T3858C:p.D1286D, chr19 11327626 11327626 A G het . 16 +line36568 nonsynonymous SNV DOCK6:NM_020812:exon7:c.C749T:p.P250L, chr19 11358799 11358799 G A het . 12 +line36576 nonsynonymous SNV CCDC159:NM_001080503:exon10:c.G833C:p.C278S, chr19 11465316 11465316 G C het . 16 +line36580 synonymous SNV RGL3:NM_001035223:exon8:c.A1092C:p.A364A,RGL3:NM_001161616:exon8:c.A1092C:p.A364A, chr19 11516007 11516007 T G het . 12 +line36581 nonsynonymous SNV RGL3:NM_001035223:exon5:c.C491T:p.A164V,RGL3:NM_001161616:exon5:c.C491T:p.A164V, chr19 11526759 11526759 G A het . 2 +line36586 nonsynonymous SNV PRKCSH:NM_001001329:exon11:c.G871A:p.A291T,PRKCSH:NM_001289102:exon10:c.G871A:p.A291T,PRKCSH:NM_001289103:exon11:c.G871A:p.A291T,PRKCSH:NM_002743:exon11:c.G871A:p.A291T,PRKCSH:NM_001289104:exon11:c.G871A:p.A291T, chr19 11558275 11558275 G A het . 31 +line36587 nonframeshift deletion PRKCSH:NM_001001329:exon11:c.937_939del:p.313_313del,PRKCSH:NM_001289102:exon10:c.937_939del:p.313_313del,PRKCSH:NM_001289103:exon11:c.937_939del:p.313_313del,PRKCSH:NM_002743:exon11:c.937_939del:p.313_313del,PRKCSH:NM_001289104:exon11:c.937_939del:p.313_313del, chr19 11558341 11558343 GAG - het . 6 +line36602 synonymous SNV ZNF441:NM_152355:exon4:c.C282T:p.N94N, chr19 11890921 11890921 C T het . 19 +line36603 nonsynonymous SNV ZNF441:NM_152355:exon4:c.G364A:p.V122I, chr19 11891003 11891003 G A het . 23 +line36604 nonsynonymous SNV ZNF441:NM_152355:exon4:c.A595G:p.K199E, chr19 11891234 11891234 A G het . 26 +line36605 nonsynonymous SNV ZNF440:NM_152357:exon4:c.G1706A:p.S569N, chr19 11943697 11943697 G A het . 9 +line36613 nonsynonymous SNV ZNF700:NM_001271848:exon4:c.C637G:p.R213G,ZNF700:NM_144566:exon4:c.C628G:p.R210G, chr19 12059467 12059467 C G het . 11 +line36619 synonymous SNV ZNF763:NM_001012753:exon4:c.G1173A:p.A391A, chr19 12089903 12089903 G A het . 14 +line36631 synonymous SNV ZNF844:NM_001136501:exon4:c.T213C:p.V71V, chr19 12186148 12186148 T C het . 12 +line36632 nonsynonymous SNV ZNF844:NM_001136501:exon4:c.A797G:p.N266S, chr19 12186732 12186732 A G het . 14 +line36633 nonsynonymous SNV ZNF844:NM_001136501:exon4:c.A826G:p.T276A, chr19 12186761 12186761 A G het . 14 +line36634 nonsynonymous SNV ZNF844:NM_001136501:exon4:c.G922C:p.A308P, chr19 12186857 12186857 G C het . 18 +line36635 nonframeshift substitution ZNF844:NM_001136501:exon4:c.986_987CT, chr19 12186921 12186922 TG CT het . 27 +line36636 synonymous SNV ZNF844:NM_001136501:exon4:c.A1275G:p.V425V, chr19 12187210 12187210 A G het . 8 +line36637 nonsynonymous SNV ZNF844:NM_001136501:exon4:c.T1926G:p.I642M, chr19 12187861 12187861 T G het . 15 +line36641 nonsynonymous SNV ZNF788P:NM_001348163:exon4:c.C19G:p.R7G,ZNF788P:NM_001348165:exon3:c.C19G:p.R7G,ZNF788P:NM_001348164:exon2:c.C19G:p.R7G, chr19 12222381 12222381 C G het . 12 +line36642 nonsynonymous SNV ZNF788P:NM_001348163:exon4:c.C1602A:p.D534E,ZNF788P:NM_001348165:exon3:c.C1602A:p.D534E,ZNF788P:NM_001348164:exon2:c.C1602A:p.D534E, chr19 12223964 12223964 C A het . 24 +line36644 synonymous SNV ZNF625:NM_145233:exon4:c.A873C:p.R291R, chr19 12256358 12256358 T G het . 13 +line36645 stopgain ZNF625:NM_145233:exon4:c.G217T:p.E73X, chr19 12257014 12257014 C A het . 17 +line36655 nonsynonymous SNV ZNF799:NM_001080821:exon4:c.T755C:p.L252P,ZNF799:NM_001322497:exon4:c.T659C:p.L220P,ZNF799:NM_001322498:exon5:c.T659C:p.L220P, chr19 12502457 12502457 A G het . 9 +line36658 nonsynonymous SNV ZNF443:NM_005815:exon4:c.G1454T:p.C485F, chr19 12541532 12541532 C A het . 40 +line36659 nonsynonymous SNV ZNF443:NM_005815:exon4:c.A1439C:p.K480T, chr19 12541547 12541547 T G het . 35 +line36662 synonymous SNV ZNF709:NM_152601:exon4:c.C687T:p.C229C, chr19 12576049 12576049 G A het . 21 +line36674 synonymous SNV ZNF490:NM_020714:exon5:c.C888T:p.H296H, chr19 12692001 12692001 G A het . 13 +line36685 nonsynonymous SNV MAN2B1:NM_000528:exon7:c.G1010A:p.R337Q,MAN2B1:NM_001173498:exon7:c.G1010A:p.R337Q, chr19 12772090 12772090 C T het . 24 +line36686 nonsynonymous SNV MAN2B1:NM_000528:exon7:c.C935T:p.T312I,MAN2B1:NM_001173498:exon7:c.C935T:p.T312I, chr19 12772165 12772165 G A het . 17 +line36688 nonsynonymous SNV MAN2B1:NM_000528:exon6:c.C832G:p.L278V,MAN2B1:NM_001173498:exon6:c.C832G:p.L278V, chr19 12774208 12774208 G C het . 13 +line36690 nonsynonymous SNV MAN2B1:NM_000528:exon2:c.C170T:p.T57I,MAN2B1:NM_001173498:exon2:c.C170T:p.T57I, chr19 12776609 12776609 G A het . 32 +line36693 synonymous SNV TNPO2:NM_013433:exon22:c.C2460T:p.V820V,TNPO2:NM_001136196:exon22:c.C2490T:p.V830V,TNPO2:NM_001136195:exon23:c.C2460T:p.V820V, chr19 12812587 12812587 G A het . 15 +line36696 nonsynonymous SNV HOOK2:NM_013312:exon15:c.C1464G:p.H488Q,HOOK2:NM_001100176:exon15:c.C1464G:p.H488Q, chr19 12876964 12876964 G C het . 6 +line36706 synonymous SNV GCDH:NM_000159:exon11:c.G1173T:p.G391G,GCDH:NM_013976:exon11:c.G1173T:p.G391G, chr19 13008607 13008607 G T het . 28 +line36707 nonsynonymous SNV GCDH:NM_013976:exon12:c.A1250G:p.Q417R, chr19 13010520 13010520 A G het . 17 +line36709 synonymous SNV FARSA:NM_004461:exon12:c.C1347T:p.P449P, chr19 13035006 13035006 G A het . 15 +line36712 nonsynonymous SNV RAD23A:NM_005053:exon4:c.A455C:p.D152A,RAD23A:NM_001270363:exon4:c.A455C:p.D152A,RAD23A:NM_001270362:exon4:c.A455C:p.D152A, chr19 13059349 13059349 A C het . 6 +line36717 nonframeshift deletion CACNA1A:NM_001127222:exon47:c.6973_6975del:p.2325_2325del, chr19 13318673 13318675 CTG - het . 5 +line36731 synonymous SNV CACNA1A:NM_001127222:exon8:c.G1182A:p.E394E,CACNA1A:NM_001127221:exon8:c.G1182A:p.E394E, chr19 13445208 13445208 C T het . 17 +line36753 synonymous SNV C19orf53:NM_014047:exon1:c.C18T:p.R6R, chr19 13885309 13885309 C T het . 16 +line36755 nonsynonymous SNV C19orf53:NM_014047:exon2:c.A116G:p.K39R, chr19 13885484 13885484 A G het . 14 +line36761 synonymous SNV NANOS3:NM_001098622:exon1:c.A354G:p.T118T, chr19 13988416 13988416 A G het . 15 +line36762 nonsynonymous SNV C19orf57:NM_001345843:exon6:c.A1916G:p.Q639R,C19orf57:NM_001345847:exon5:c.A1145G:p.Q382R,C19orf57:NM_001345844:exon6:c.A1916G:p.Q639R,C19orf57:NM_024323:exon6:c.A1499G:p.Q500R,C19orf57:NM_001345846:exon5:c.A1145G:p.Q382R, chr19 14000170 14000170 T C het . 11 +line36763 synonymous SNV C19orf57:NM_001345843:exon6:c.T1686C:p.P562P,C19orf57:NM_001345847:exon5:c.T915C:p.P305P,C19orf57:NM_001345844:exon6:c.T1686C:p.P562P,C19orf57:NM_024323:exon6:c.T1269C:p.P423P,C19orf57:NM_001345846:exon5:c.T915C:p.P305P, chr19 14000400 14000400 A G het . 3 +line36765 nonsynonymous SNV C19orf57:NM_001345843:exon2:c.G412T:p.D138Y,C19orf57:NM_001345848:exon2:c.G412T:p.D138Y,C19orf57:NM_001345844:exon2:c.G412T:p.D138Y, chr19 14015711 14015711 C A het . 15 +line36768 synonymous SNV CC2D1A:NM_017721:exon12:c.T1281C:p.G427G, chr19 14030689 14030689 T C het . 13 +line36772 synonymous SNV PODNL1:NM_001146255:exon6:c.G732A:p.P244P,PODNL1:NM_024825:exon8:c.G984A:p.P328P,PODNL1:NM_001146254:exon8:c.G999A:p.P333P, chr19 14044052 14044052 C T het . 10 +line36774 synonymous SNV DCAF15:NM_138353:exon3:c.T234C:p.H78H, chr19 14065341 14065341 T C het . 10 +line36777 nonsynonymous SNV RFX1:NM_002918:exon9:c.A1108G:p.T370A, chr19 14083761 14083761 T C het . 13 +line36779 synonymous SNV C19orf67:NM_001277378:exon1:c.C105T:p.S35S, chr19 14196335 14196335 G A het . 11 +line36794 synonymous SNV PKN1:NM_002741:exon6:c.A771G:p.L257L,PKN1:NM_213560:exon6:c.A789G:p.L263L, chr19 14561722 14561722 A G het . 5 +line36798 nonsynonymous SNV GIPC1:NM_202470:exon5:c.C713G:p.T238S,GIPC1:NM_005716:exon7:c.C713G:p.T238S,GIPC1:NM_202468:exon6:c.C713G:p.T238S,GIPC1:NM_202494:exon4:c.C422G:p.T141S,GIPC1:NM_202469:exon5:c.C422G:p.T141S, chr19 14590279 14590279 G C het . 4 +line36811 synonymous SNV NDUFB7:NM_004146:exon1:c.C9G:p.A3A, chr19 14682804 14682804 G C het . 7 +line36818 nonsynonymous SNV ADGRE3:NM_001289159:exon5:c.C329T:p.A110V,ADGRE3:NM_001289158:exon7:c.C551T:p.A184V,ADGRE3:NM_032571:exon8:c.C707T:p.A236V, chr19 14758168 14758168 G A het . 12 +line36821 nonsynonymous SNV ADGRE3:NM_001289158:exon4:c.G223C:p.E75Q,ADGRE3:NM_032571:exon5:c.G379C:p.E127Q, chr19 14769339 14769339 C G het . 10 +line36826 synonymous SNV ZNF333:NM_001352244:exon7:c.T474A:p.T158T,ZNF333:NM_001352240:exon8:c.T147A:p.T49T,ZNF333:NM_001300912:exon7:c.T474A:p.T158T,ZNF333:NM_032433:exon7:c.T474A:p.T158T,ZNF333:NM_001352239:exon8:c.T147A:p.T49T,ZNF333:NM_001352241:exon8:c.T36A:p.T12T, chr19 14817548 14817548 T A het . 4 +line36828 nonsynonymous SNV ZNF333:NM_001352240:exon13:c.C1283T:p.A428V,ZNF333:NM_032433:exon12:c.C1610T:p.A537V,ZNF333:NM_001352239:exon13:c.C1283T:p.A428V,ZNF333:NM_001352241:exon13:c.C1172T:p.A391V,ZNF333:NM_001352243:exon12:c.C917T:p.A306V, chr19 14829749 14829749 C T het . 8 +line36839 nonsynonymous SNV ADGRE2:NM_013447:exon16:c.G1842C:p.L614F,ADGRE2:NM_001271052:exon14:c.G1668C:p.L556F, chr19 14862430 14862430 C G het . 18 +line36849 nonsynonymous SNV OR7C1:NM_198944:exon1:c.G739C:p.V247L, chr19 14910210 14910210 C G het . 16 +line36850 nonsynonymous SNV OR7C1:NM_198944:exon1:c.T628C:p.S210P, chr19 14910321 14910321 A G het . 14 +line36851 nonsynonymous SNV OR7C1:NM_198944:exon1:c.G511A:p.E171K, chr19 14910438 14910438 C T het . 14 +line36852 nonsynonymous SNV OR7C1:NM_198944:exon1:c.G376A:p.V126I, chr19 14910573 14910573 C T het . 6 +line36853 nonsynonymous SNV OR7C1:NM_198944:exon1:c.A295G:p.S99G, chr19 14910654 14910654 T C het . 8 +line36868 nonframeshift insertion OR7C2:NM_012377:exon1:c.683_684insATC:p.V228delinsVS, chr19 15052983 15052983 - ATC het . 28 +line36880 nonsynonymous SNV CCDC105:NM_173482:exon3:c.G733A:p.V245M, chr19 15131330 15131330 G A het . 12 +line36885 nonsynonymous SNV CCDC105:NM_173482:exon7:c.G1331C:p.S444T, chr19 15133762 15133762 G C het . 23 +line36891 nonsynonymous SNV OR1I1:NM_001004713:exon1:c.A148T:p.I50F, chr19 15198024 15198024 A T het . 10 +line36892 synonymous SNV OR1I1:NM_001004713:exon1:c.A387G:p.P129P, chr19 15198263 15198263 A G het . 9 +line36893 nonsynonymous SNV OR1I1:NM_001004713:exon1:c.C416G:p.P139R, chr19 15198292 15198292 C G het . 10 +line36894 nonsynonymous SNV OR1I1:NM_001004713:exon1:c.G565T:p.G189C, chr19 15198441 15198441 G T het . 18 +line36895 nonsynonymous SNV OR1I1:NM_001004713:exon1:c.T631C:p.F211L, chr19 15198507 15198507 T C het . 23 +line36896 nonsynonymous SNV OR1I1:NM_001004713:exon1:c.C730T:p.H244Y, chr19 15198606 15198606 C T het . 12 +line36897 nonsynonymous SNV OR1I1:NM_001004713:exon1:c.A755C:p.Y252S, chr19 15198631 15198631 A C het . 9 +line36898 nonsynonymous SNV OR1I1:NM_001004713:exon1:c.T875C:p.I292T, chr19 15198751 15198751 T C het . 13 +line36899 synonymous SNV OR1I1:NM_001004713:exon1:c.T888C:p.D296D, chr19 15198764 15198764 T C het . 10 +line36900 synonymous SNV OR1I1:NM_001004713:exon1:c.A975T:p.P325P, chr19 15198851 15198851 A T het . 12 +line36902 synonymous SNV SYDE1:NM_001300910:exon3:c.A252C:p.P84P,SYDE1:NM_033025:exon3:c.A453C:p.P151P, chr19 15220537 15220537 A C het . 3 +line36905 synonymous SNV ILVBL:NM_006844:exon12:c.C1464T:p.L488L, chr19 15226970 15226970 G A het . 13 +line36906 synonymous SNV ILVBL:NM_006844:exon12:c.C1404T:p.G468G, chr19 15227030 15227030 G A het . 20 +line36908 nonsynonymous SNV NOTCH3:NM_000435:exon33:c.C6668T:p.A2223V, chr19 15271771 15271771 G A het . 3 +line36926 synonymous SNV NOTCH3:NM_000435:exon25:c.A4563G:p.P1521P, chr19 15285052 15285052 T C het . 16 +line36931 synonymous SNV NOTCH3:NM_000435:exon17:c.A2742G:p.P914P, chr19 15292437 15292437 T C het . 11 +line36933 synonymous SNV NOTCH3:NM_000435:exon16:c.C2538T:p.C846C, chr19 15295134 15295134 G A het . 17 +line36935 synonymous SNV NOTCH3:NM_000435:exon4:c.A606G:p.A202A, chr19 15302844 15302844 T C het . 8 +line36946 nonsynonymous SNV AKAP8L:NM_014371:exon11:c.C1374G:p.H458Q,AKAP8L:NM_001291478:exon11:c.C1191G:p.H397Q, chr19 15508362 15508362 G C het . 17 +line36968 unknown UNKNOWN chr19 15730498 15730498 - C het . 15 +line36972 unknown UNKNOWN chr19 15739597 15739597 A C het . 4 +line36977 synonymous SNV CYP4F3:NM_001199209:exon9:c.G1074A:p.V358V,CYP4F3:NM_000896:exon9:c.G1074A:p.V358V,CYP4F3:NM_001199208:exon9:c.G1074A:p.V358V, chr19 15763721 15763721 G A het . 9 +line37000 nonsynonymous SNV CYP4F12:NM_023944:exon2:c.C38T:p.P13L, chr19 15784377 15784377 C T het . 17 +line37001 nonsynonymous SNV CYP4F12:NM_023944:exon2:c.C47T:p.T16M, chr19 15784386 15784386 C T het . 20 +line37004 nonsynonymous SNV CYP4F12:NM_023944:exon3:c.A226G:p.N76D, chr19 15789098 15789098 A G het . 5 +line37005 nonsynonymous SNV CYP4F12:NM_023944:exon3:c.C242T:p.S81L, chr19 15789114 15789114 C T het . 7 +line37006 nonsynonymous SNV CYP4F12:NM_023944:exon3:c.A268G:p.I90V, chr19 15789140 15789140 A G het . 9 +line37015 nonsynonymous SNV CYP4F12:NM_023944:exon6:c.T562C:p.C188R, chr19 15793235 15793235 T C het . 3 +line37023 synonymous SNV CYP4F12:NM_023944:exon12:c.T1380C:p.P460P, chr19 15807305 15807305 T C het . 13 +line37024 synonymous SNV CYP4F12:NM_023944:exon13:c.T1510C:p.L504L, chr19 15807830 15807830 T C het . 16 +line37025 nonsynonymous SNV CYP4F12:NM_023944:exon13:c.A1564G:p.S522G, chr19 15807884 15807884 A G het . 6 +line37026 synonymous SNV OR10H2:NM_013939:exon1:c.C228T:p.A76A, chr19 15839081 15839081 C T het . 2 +line37027 nonsynonymous SNV OR10H2:NM_013939:exon1:c.C512T:p.S171F, chr19 15839365 15839365 C T het . 8 +line37029 nonsynonymous SNV OR10H3:NM_013938:exon1:c.A21C:p.R7S, chr19 15852223 15852223 A C het . 11 +line37030 nonsynonymous SNV OR10H3:NM_013938:exon1:c.C40A:p.L14I, chr19 15852242 15852242 C A het . 12 +line37031 nonsynonymous SNV OR10H3:NM_013938:exon1:c.G161A:p.R54H, chr19 15852363 15852363 G A het . 26 +line37032 synonymous SNV OR10H3:NM_013938:exon1:c.C342T:p.F114F, chr19 15852544 15852544 C T het . 26 +line37040 synonymous SNV OR10H5:NM_001004466:exon1:c.T573C:p.D191D, chr19 15905431 15905431 T C het . 12 +line37045 nonsynonymous SNV CYP4F2:NM_001082:exon13:c.A1414G:p.T472A, chr19 15989730 15989730 T C het . 10 +line37046 synonymous SNV CYP4F2:NM_001082:exon9:c.C1029T:p.H343H, chr19 15996820 15996820 G A het . 8 +line37058 synonymous SNV CYP4F11:NM_001128932:exon13:c.C1455G:p.T485T,CYP4F11:NM_021187:exon12:c.C1455G:p.T485T, chr19 16024662 16024662 G C het . 10 +line37061 nonsynonymous SNV CYP4F11:NM_001128932:exon12:c.G1336A:p.D446N,CYP4F11:NM_021187:exon11:c.G1336A:p.D446N, chr19 16025176 16025176 C T het . 14 +line37065 nonsynonymous SNV CYP4F11:NM_001128932:exon7:c.T826C:p.C276R,CYP4F11:NM_021187:exon6:c.T826C:p.C276R, chr19 16034714 16034714 A G het . 17 +line37067 synonymous SNV CYP4F11:NM_001128932:exon3:c.T318C:p.I106I,CYP4F11:NM_021187:exon2:c.T318C:p.I106I, chr19 16040292 16040292 A G het . 12 +line37068 synonymous SNV CYP4F11:NM_001128932:exon2:c.A78G:p.G26G,CYP4F11:NM_021187:exon1:c.A78G:p.G26G, chr19 16045141 16045141 T C het . 15 +line37069 nonsynonymous SNV OR10H4:NM_001004465:exon1:c.C29G:p.S10C, chr19 16059846 16059846 C G het . 9 +line37090 synonymous SNV RAB8A:NM_005370:exon5:c.C357T:p.L119L, chr19 16238279 16238279 C T het . 2 +line37095 nonsynonymous SNV CIB3:NM_054113:exon5:c.G416A:p.G139E,CIB3:NM_001300922:exon3:c.G269A:p.G90E, chr19 16275655 16275655 C T het . 15 +line37109 synonymous SNV AP1M1:NM_032493:exon9:c.C1023T:p.I341I,AP1M1:NM_001130524:exon10:c.C1059T:p.I353I, chr19 16339715 16339715 C T het . 16 +line37121 nonsynonymous SNV KLF2:NM_016270:exon2:c.T311C:p.L104P, chr19 16436262 16436262 T C het . 6 +line37131 synonymous SNV CALR3:NM_145046:exon8:c.C972T:p.Y324Y, chr19 16591464 16591464 G A het . 45 +line37136 synonymous SNV CALR3:NM_145046:exon7:c.G861A:p.T287T, chr19 16593318 16593318 C T het . 44 +line37142 synonymous SNV CALR3:NM_145046:exon3:c.G381A:p.Q127Q, chr19 16601194 16601194 C T het . 16 +line37149 nonframeshift deletion CHERP:NM_006387:exon8:c.1005_1007del:p.335_336del, chr19 16640581 16640583 TGC - het . 36 +line37150 synonymous SNV SLC35E1:NM_024881:exon5:c.C864G:p.P288P, chr19 16666101 16666101 G C het . 23 +line37153 synonymous SNV TMEM38A:NM_024074:exon2:c.C189T:p.F63F, chr19 16790859 16790859 C T het . 11 +line37160 nonsynonymous SNV NWD1:NM_001007525:exon3:c.G44T:p.C15F, chr19 16842052 16842052 G T het . 17 +line37162 nonsynonymous SNV NWD1:NM_001007525:exon5:c.A232G:p.I78V, chr19 16855265 16855265 A G het . 14 +line37163 nonsynonymous SNV NWD1:NM_001347994:exon5:c.G34A:p.A12T,NWD1:NM_001290355:exon7:c.G247A:p.A83T,NWD1:NM_001007525:exon6:c.G652A:p.A218T, chr19 16860105 16860105 G A het . 12 +line37164 synonymous SNV NWD1:NM_001347994:exon5:c.C321T:p.C107C,NWD1:NM_001290355:exon7:c.C534T:p.C178C,NWD1:NM_001007525:exon6:c.C939T:p.C313C, chr19 16860392 16860392 C T het . 18 +line37166 synonymous SNV NWD1:NM_001347994:exon7:c.G1506A:p.L502L,NWD1:NM_001290355:exon9:c.G1719A:p.L573L,NWD1:NM_001007525:exon8:c.G2124A:p.L708L, chr19 16872940 16872940 G A het . 8 +line37170 nonsynonymous SNV NWD1:NM_001347994:exon11:c.C2080G:p.Q694E,NWD1:NM_001290355:exon13:c.C2293G:p.Q765E,NWD1:NM_001007525:exon12:c.C2698G:p.Q900E, chr19 16890243 16890243 C G het . 7 +line37171 nonsynonymous SNV NWD1:NM_001347994:exon12:c.A2159T:p.N720I,NWD1:NM_001290355:exon14:c.A2372T:p.N791I,NWD1:NM_001007525:exon13:c.A2777T:p.N926I, chr19 16899838 16899838 A T het . 23 +line37172 nonsynonymous SNV NWD1:NM_001347994:exon12:c.A2186G:p.H729R,NWD1:NM_001290355:exon14:c.A2399G:p.H800R,NWD1:NM_001007525:exon13:c.A2804G:p.H935R, chr19 16899865 16899865 A G het . 32 +line37176 nonsynonymous SNV NWD1:NM_001347994:exon19:c.A4004T:p.D1335V,NWD1:NM_001290355:exon21:c.A4217T:p.D1406V, chr19 16926067 16926067 A T het . 21 +line37177 synonymous SNV SIN3B:NM_015260:exon12:c.A1545G:p.L515L,SIN3B:NM_001297597:exon2:c.A219G:p.L73L,SIN3B:NM_001297595:exon11:c.A1449G:p.L483L, chr19 16976286 16976286 A G het . 14 +line37180 nonsynonymous SNV F2RL3:NM_003950:exon2:c.G358A:p.A120T, chr19 17000632 17000632 G A het . 6 +line37182 nonsynonymous SNV CPAMD8:NM_015692:exon42:c.A5669G:p.Q1890R, chr19 17004049 17004049 T C het . 15 +line37186 synonymous SNV CPAMD8:NM_015692:exon39:c.C5130G:p.T1710T, chr19 17008578 17008578 G C het . 8 +line37188 nonsynonymous SNV CPAMD8:NM_015692:exon29:c.C3944T:p.T1315I, chr19 17025292 17025292 G A het . 11 +line37190 nonsynonymous SNV CPAMD8:NM_015692:exon11:c.G1022A:p.R341Q, chr19 17108135 17108135 C T het . 9 +line37191 nonsynonymous SNV CPAMD8:NM_015692:exon10:c.T935C:p.M312T, chr19 17111297 17111297 A G het . 2 +line37193 synonymous SNV CPAMD8:NM_015692:exon9:c.T828C:p.F276F, chr19 17113147 17113147 A G het . 5 +line37199 synonymous SNV HAUS8:NM_033417:exon10:c.G903A:p.T301T,HAUS8:NM_001011699:exon10:c.G900A:p.T300T, chr19 17163661 17163661 C T het . 8 +line37203 nonsynonymous SNV HAUS8:NM_033417:exon5:c.G247A:p.G83R,HAUS8:NM_001011699:exon5:c.G244A:p.G82R, chr19 17170885 17170885 C T het . 22 +line37210 nonsynonymous SNV MYO9B:NM_004145:exon2:c.A440C:p.D147A,MYO9B:NM_001130065:exon2:c.A440C:p.D147A, chr19 17212967 17212967 A C het . 5 +line37211 nonsynonymous SNV MYO9B:NM_004145:exon2:c.T442G:p.F148V,MYO9B:NM_001130065:exon2:c.T442G:p.F148V, chr19 17212969 17212969 T G het . 5 +line37212 synonymous SNV MYO9B:NM_004145:exon2:c.C465T:p.P155P,MYO9B:NM_001130065:exon2:c.C465T:p.P155P, chr19 17212992 17212992 C T het . 3 +line37222 synonymous SNV MYO9B:NM_004145:exon10:c.G1632T:p.L544L,MYO9B:NM_001130065:exon10:c.G1632T:p.L544L, chr19 17273893 17273893 G T het . 7 +line37231 synonymous SNV MYO9B:NM_004145:exon22:c.T3795C:p.P1265P,MYO9B:NM_001130065:exon22:c.T3795C:p.P1265P, chr19 17306031 17306031 T C het . 9 +line37233 synonymous SNV MYO9B:NM_004145:exon28:c.C4716T:p.V1572V,MYO9B:NM_001130065:exon28:c.C4716T:p.V1572V, chr19 17312992 17312992 C T het . 6 +line37236 nonsynonymous SNV MYO9B:NM_004145:exon32:c.T5078C:p.V1693A,MYO9B:NM_001130065:exon32:c.T5078C:p.V1693A, chr19 17316782 17316782 T C het . 4 +line37237 synonymous SNV MYO9B:NM_004145:exon35:c.A5526G:p.S1842S,MYO9B:NM_001130065:exon35:c.A5526G:p.S1842S, chr19 17317955 17317955 A G het . 15 +line37240 nonsynonymous SNV USE1:NM_018467:exon7:c.T461C:p.L154S, chr19 17330060 17330060 T C het . 8 +line37242 synonymous SNV USHBP1:NM_001321417:exon13:c.G2082A:p.P694P,USHBP1:NM_031941:exon13:c.G2082A:p.P694P,USHBP1:NM_001297703:exon12:c.G1890A:p.P630P, chr19 17361064 17361064 C T het . 8 +line37246 synonymous SNV USHBP1:NM_001321417:exon10:c.A1608G:p.A536A,USHBP1:NM_031941:exon10:c.A1608G:p.A536A,USHBP1:NM_001297703:exon9:c.A1416G:p.A472A, chr19 17366278 17366278 T C het . 17 +line37247 nonsynonymous SNV USHBP1:NM_001321417:exon10:c.G1573A:p.V525M,USHBP1:NM_031941:exon10:c.G1573A:p.V525M,USHBP1:NM_001297703:exon9:c.G1381A:p.V461M, chr19 17366313 17366313 C T het . 11 +line37249 nonsynonymous SNV USHBP1:NM_001321417:exon9:c.A1315G:p.M439V,USHBP1:NM_031941:exon9:c.A1315G:p.M439V,USHBP1:NM_001297703:exon8:c.A1123G:p.M375V, chr19 17367435 17367435 T C het . 8 +line37250 synonymous SNV USHBP1:NM_001321417:exon7:c.A954C:p.L318L,USHBP1:NM_031941:exon7:c.A954C:p.L318L,USHBP1:NM_001297703:exon6:c.A762C:p.L254L, chr19 17370190 17370190 T G het . 12 +line37253 nonsynonymous SNV ANKLE1:NM_152363:exon1:c.G62A:p.G21E,ANKLE1:NM_001278444:exon1:c.G62A:p.G21E,ANKLE1:NM_001278443:exon1:c.G62A:p.G21E, chr19 17392629 17392629 G A het . 3 +line37254 nonsynonymous SNV ANKLE1:NM_001278445:exon2:c.G157A:p.A53T,ANKLE1:NM_152363:exon2:c.G253A:p.A85T,ANKLE1:NM_001278444:exon2:c.G253A:p.A85T,ANKLE1:NM_001278443:exon2:c.G220A:p.A74T, chr19 17392894 17392894 G A het . 18 +line37256 synonymous SNV ANKLE1:NM_001278445:exon3:c.G321C:p.A107A,ANKLE1:NM_152363:exon3:c.G417C:p.A139A,ANKLE1:NM_001278444:exon3:c.G417C:p.A139A,ANKLE1:NM_001278443:exon3:c.G384C:p.A128A, chr19 17393504 17393504 G C het . 20 +line37257 nonsynonymous SNV ANKLE1:NM_001278445:exon3:c.T347A:p.L116Q,ANKLE1:NM_152363:exon3:c.T443A:p.L148Q,ANKLE1:NM_001278444:exon3:c.T443A:p.L148Q,ANKLE1:NM_001278443:exon3:c.T410A:p.L137Q, chr19 17393530 17393530 T A het . 15 +line37258 nonsynonymous SNV ANKLE1:NM_001278445:exon5:c.T617G:p.L206W,ANKLE1:NM_152363:exon5:c.T713G:p.L238W,ANKLE1:NM_001278444:exon5:c.T713G:p.L238W,ANKLE1:NM_001278443:exon5:c.T680G:p.L227W, chr19 17394124 17394124 T G het . 13 +line37259 nonsynonymous SNV ANKLE1:NM_001278445:exon5:c.A997C:p.T333P,ANKLE1:NM_152363:exon5:c.A1093C:p.T365P,ANKLE1:NM_001278444:exon5:c.A1093C:p.T365P,ANKLE1:NM_001278443:exon5:c.A1060C:p.T354P, chr19 17394504 17394504 A C het . 8 +line37260 nonsynonymous SNV ANKLE1:NM_001278445:exon6:c.A1292G:p.Q431R,ANKLE1:NM_152363:exon6:c.A1466G:p.Q489R,ANKLE1:NM_001278444:exon6:c.A1388G:p.Q463R,ANKLE1:NM_001278443:exon6:c.A1355G:p.Q452R, chr19 17395003 17395003 A G het . 22 +line37261 synonymous SNV ANKLE1:NM_001278445:exon6:c.C1344G:p.T448T,ANKLE1:NM_152363:exon6:c.C1518G:p.T506T,ANKLE1:NM_001278444:exon6:c.C1440G:p.T480T,ANKLE1:NM_001278443:exon6:c.C1407G:p.T469T, chr19 17395055 17395055 C G het . 9 +line37264 synonymous SNV ANKLE1:NM_001278445:exon8:c.T1584C:p.G528G,ANKLE1:NM_152363:exon8:c.T1758C:p.G586G,ANKLE1:NM_001278443:exon8:c.T1647C:p.G549G, chr19 17396549 17396549 T C het . 25 +line37268 nonsynonymous SNV ABHD8:NM_024527:exon2:c.G208A:p.G70R, chr19 17412218 17412218 C T het . 4 +line37272 synonymous SNV ANO8:NM_020959:exon17:c.A2973G:p.S991S, chr19 17435884 17435884 T C het . 11 +line37273 synonymous SNV ANO8:NM_020959:exon14:c.T2274C:p.V758V, chr19 17438642 17438642 A G het . 10 +line37274 synonymous SNV ANO8:NM_020959:exon13:c.G2163A:p.P721P, chr19 17439034 17439034 C T het . 15 +line37276 synonymous SNV GTPBP3:NM_001128855:exon2:c.A198C:p.T66T,GTPBP3:NM_001195422:exon2:c.A264C:p.T88T,GTPBP3:NM_133644:exon2:c.A198C:p.T66T,GTPBP3:NM_032620:exon2:c.A198C:p.T66T, chr19 17448961 17448961 A C het . 20 +line37277 nonsynonymous SNV GTPBP3:NM_001128855:exon6:c.T749C:p.V250A,GTPBP3:NM_001195422:exon6:c.T815C:p.V272A,GTPBP3:NM_133644:exon5:c.T845C:p.V282A,GTPBP3:NM_032620:exon6:c.T749C:p.V250A, chr19 17450016 17450016 T C het . 6 +line37278 nonsynonymous SNV GTPBP3:NM_001128855:exon8:c.G1040A:p.R347H,GTPBP3:NM_001195422:exon8:c.G1169A:p.R390H,GTPBP3:NM_133644:exon7:c.G1199A:p.R400H,GTPBP3:NM_032620:exon8:c.G1103A:p.R368H, chr19 17451981 17451981 G A het . 9 +line37293 nonsynonymous SNV TMEM221:NM_001190844:exon3:c.T851C:p.M284T, chr19 17547292 17547292 A G het . 4 +line37294 nonsynonymous SNV TMEM221:NM_001190844:exon3:c.C722T:p.A241V, chr19 17547421 17547421 G A het . 15 +line37297 synonymous SNV TMEM221:NM_001190844:exon2:c.T360C:p.H120H, chr19 17556054 17556054 A G het . 19 +line37299 nonsynonymous SNV NXNL1:NM_138454:exon2:c.A461T:p.E154V, chr19 17566634 17566634 T A het . 28 +line37312 nonsynonymous SNV FAM129C:NM_001363609:exon5:c.T593C:p.I198T, chr19 17648350 17648350 T C het . 6 +line37313 synonymous SNV FAM129C:NM_001321826:exon9:c.A1149G:p.S383S,FAM129C:NM_001363609:exon9:c.A1149G:p.S383S,FAM129C:NM_001098524:exon10:c.A1242G:p.S414S,FAM129C:NM_001321828:exon8:c.A420G:p.S140S,FAM129C:NM_173544:exon10:c.A1242G:p.S414S,FAM129C:NM_001321827:exon9:c.A1149G:p.S383S, chr19 17651370 17651370 A G het . 2 +line37314 nonsynonymous SNV FAM129C:NM_001321826:exon14:c.G1714A:p.G572S,FAM129C:NM_001363609:exon13:c.G1606A:p.G536S,FAM129C:NM_001098524:exon15:c.G1807A:p.G603S,FAM129C:NM_001321828:exon13:c.G985A:p.G329S,FAM129C:NM_173544:exon15:c.G1807A:p.G603S,FAM129C:NM_001321827:exon14:c.G1714A:p.G572S, chr19 17660300 17660300 G A het . 8 +line37327 synonymous SNV UNC13A:NM_001080421:exon42:c.C5079A:p.S1693S, chr19 17716896 17716896 G T het . 13 +line37331 synonymous SNV UNC13A:NM_001080421:exon39:c.G4497A:p.S1499S, chr19 17728572 17728572 C T het . 23 +line37336 synonymous SNV UNC13A:NM_001080421:exon29:c.T3576C:p.V1192V, chr19 17741047 17741047 A G het . 16 +line37338 nonsynonymous SNV UNC13A:NM_001080421:exon25:c.T3101C:p.L1034P, chr19 17746947 17746947 A G het . 15 +line37340 synonymous SNV UNC13A:NM_001080421:exon15:c.C1767G:p.V589V, chr19 17759289 17759289 G C het . 8 +line37355 nonsynonymous SNV MAP1S:NM_001308363:exon5:c.C1154G:p.S385C,MAP1S:NM_018174:exon5:c.C1232G:p.S411C, chr19 17837425 17837425 C G het . 13 +line37356 synonymous SNV MAP1S:NM_001308363:exon5:c.A1710G:p.A570A,MAP1S:NM_018174:exon5:c.A1788G:p.A596A, chr19 17837981 17837981 A G het . 14 +line37358 synonymous SNV FCHO1:NM_001161357:exon14:c.C936T:p.P312P,FCHO1:NM_001161359:exon12:c.C786T:p.P262P,FCHO1:NM_015122:exon14:c.C936T:p.P312P,FCHO1:NM_001161358:exon13:c.C936T:p.P312P, chr19 17885880 17885880 C T het . 6 +line37365 synonymous SNV B3GNT3:NM_014256:exon2:c.A408T:p.V136V, chr19 17919024 17919024 A T het . 8 +line37366 nonsynonymous SNV B3GNT3:NM_014256:exon3:c.G983A:p.R328H, chr19 17922795 17922795 G A het . 18 +line37373 nonsynonymous SNV INSL3:NM_001265587:exon1:c.A178G:p.T60A,INSL3:NM_005543:exon1:c.A178G:p.T60A, chr19 17932138 17932138 T C het . 21 +line37396 nonsynonymous SNV ARRDC2:NM_001025604:exon8:c.T1172C:p.L391P,ARRDC2:NM_015683:exon8:c.T1187C:p.L396P,ARRDC2:NM_001286826:exon8:c.T1184C:p.L395P, chr19 18123738 18123738 T C het . 9 +line37413 synonymous SNV MAST3:NM_015016:exon7:c.C522T:p.H174H, chr19 18234441 18234441 C T het . 9 +line37415 synonymous SNV MAST3:NM_015016:exon15:c.C1608T:p.I536I, chr19 18245512 18245512 C T het . 9 +line37416 synonymous SNV MAST3:NM_015016:exon18:c.T1983C:p.A661A, chr19 18248146 18248146 T C het . 12 +line37418 synonymous SNV MAST3:NM_015016:exon25:c.C3135T:p.G1045G, chr19 18257750 18257750 C T het . 10 +line37425 nonsynonymous SNV PIK3R2:NM_005027:exon6:c.A700C:p.S234R, chr19 18272190 18272190 A C het . 1 +line37426 nonsynonymous SNV PIK3R2:NM_005027:exon8:c.T937C:p.S313P, chr19 18273047 18273047 T C het . 2 +line37429 synonymous SNV PIK3R2:NM_005027:exon15:c.T1911C:p.S637S, chr19 18279638 18279638 T C het . 21 +line37431 nonsynonymous SNV IFI30:NM_006332:exon2:c.G227A:p.R76Q, chr19 18285944 18285944 G A het . 12 +line37433 synonymous SNV IFI30:NM_006332:exon5:c.A603G:p.P201P, chr19 18288069 18288069 A G het . 5 +line37435 nonsynonymous SNV MPV17L2:NM_032683:exon2:c.A214G:p.M72V, chr19 18304700 18304700 A G het . 5 +line37437 synonymous SNV MPV17L2:NM_032683:exon4:c.C492T:p.P164P, chr19 18305824 18305824 C T het . 4 +line37441 synonymous SNV RAB3A:NM_002866:exon3:c.T285C:p.A95A, chr19 18311199 18311199 A G het . 11 +line37443 nonsynonymous SNV PDE4C:NM_001098819:exon10:c.C844T:p.H282Y,PDE4C:NM_001098818:exon10:c.C1066T:p.H356Y,PDE4C:NM_001330172:exon11:c.C1162T:p.H388Y,PDE4C:NM_000923:exon11:c.C1162T:p.H388Y, chr19 18329212 18329212 G A het . 17 +line37444 synonymous SNV PDE4C:NM_001098819:exon10:c.A816G:p.E272E,PDE4C:NM_001098818:exon10:c.A1038G:p.E346E,PDE4C:NM_001330172:exon11:c.A1134G:p.E378E,PDE4C:NM_000923:exon11:c.A1134G:p.E378E, chr19 18329240 18329240 T C het . 15 +line37445 nonsynonymous SNV PDE4C:NM_001098819:exon9:c.G713A:p.R238Q,PDE4C:NM_001098818:exon9:c.G935A:p.R312Q,PDE4C:NM_001330172:exon10:c.G1031A:p.R344Q,PDE4C:NM_000923:exon10:c.G1031A:p.R344Q, chr19 18329784 18329784 C T het . 24 +line37447 nonsynonymous SNV IQCN:NM_025249:exon4:c.C2723A:p.P908H,IQCN:NM_001145305:exon4:c.C2585A:p.P862H,IQCN:NM_001145304:exon4:c.C3284A:p.P1095H, chr19 18368810 18368810 G T het . 7 +line37453 synonymous SNV IQCN:NM_001145304:exon3:c.G2691A:p.L897L, chr19 18375659 18375659 C T het . 15 +line37454 nonsynonymous SNV IQCN:NM_025249:exon3:c.A1943T:p.Y648F,IQCN:NM_001145305:exon3:c.A1805T:p.Y602F,IQCN:NM_001145304:exon3:c.A1943T:p.Y648F, chr19 18376407 18376407 T A het . 7 +line37455 nonsynonymous SNV IQCN:NM_025249:exon3:c.A1828C:p.T610P,IQCN:NM_001145305:exon3:c.A1690C:p.T564P,IQCN:NM_001145304:exon3:c.A1828C:p.T610P, chr19 18376522 18376522 T G het . 22 +line37456 nonsynonymous SNV IQCN:NM_025249:exon3:c.G854C:p.S285T,IQCN:NM_001145305:exon3:c.G716C:p.S239T,IQCN:NM_001145304:exon3:c.G854C:p.S285T, chr19 18377496 18377496 C G het . 17 +line37457 nonsynonymous SNV IQCN:NM_025249:exon3:c.C703G:p.L235V,IQCN:NM_001145305:exon3:c.C565G:p.L189V,IQCN:NM_001145304:exon3:c.C703G:p.L235V, chr19 18377647 18377647 G C het . 11 +line37458 nonsynonymous SNV IQCN:NM_025249:exon3:c.T131C:p.L44P,IQCN:NM_001145304:exon3:c.T131C:p.L44P, chr19 18378219 18378219 A G het . 2 +line37473 nonsynonymous SNV GDF15:NM_004864:exon1:c.G25C:p.V9L, chr19 18497024 18497024 G C het . 10 +line37474 synonymous SNV GDF15:NM_004864:exon1:c.G138A:p.L46L, chr19 18497137 18497137 G A het . 29 +line37475 nonsynonymous SNV GDF15:NM_004864:exon1:c.T142A:p.S48T, chr19 18497141 18497141 T A het . 30 +line37476 synonymous SNV GDF15:NM_004864:exon2:c.C333T:p.P111P, chr19 18499151 18499151 C T het . 12 +line37477 synonymous SNV GDF15:NM_004864:exon2:c.G420T:p.P140P, chr19 18499238 18499238 G T het . 12 +line37478 synonymous SNV GDF15:NM_004864:exon2:c.A474G:p.R158R, chr19 18499292 18499292 A G het . 21 +line37479 nonsynonymous SNV LRRC25:NM_145256:exon2:c.C880T:p.P294S, chr19 18502835 18502835 G A het . 19 +line37480 nonsynonymous SNV LRRC25:NM_145256:exon1:c.G517T:p.G173W, chr19 18507257 18507257 C A het . 17 +line37483 synonymous SNV ISYNA1:NM_001170938:exon6:c.C711T:p.L237L,ISYNA1:NM_016368:exon7:c.C873T:p.L291L,ISYNA1:NM_001253389:exon4:c.C489T:p.L163L, chr19 18546944 18546944 G A het . 29 +line37490 nonsynonymous SNV KXD1:NM_001171948:exon6:c.C469G:p.P157A,KXD1:NM_001171949:exon5:c.C469G:p.P157A,KXD1:NM_024069:exon5:c.C469G:p.P157A, chr19 18679379 18679379 C G het . 18 +line37497 nonsynonymous SNV CRLF1:NM_004750:exon4:c.G541A:p.D181N, chr19 18709398 18709398 C T het . 18 +line37500 synonymous SNV KLHL26:NM_001345982:exon3:c.C57T:p.A19A,KLHL26:NM_001345985:exon2:c.C90T:p.A30A,KLHL26:NM_001345981:exon2:c.C90T:p.A30A,KLHL26:NM_001345984:exon2:c.C90T:p.A30A,KLHL26:NM_018316:exon2:c.C90T:p.A30A, chr19 18775077 18775077 C T het . 5 +line37505 nonsynonymous SNV CRTC1:NM_015321:exon10:c.C1180T:p.P394S,CRTC1:NM_001098482:exon11:c.C1228T:p.P410S, chr19 18879463 18879463 C T het . 9 +line37511 nonsynonymous SNV GDF1:NM_001492:exon8:c.C353T:p.A118V, chr19 18980172 18980172 G A het . 5 +line37517 synonymous SNV COPE:NM_199444:exon7:c.A594G:p.P198P,COPE:NM_199442:exon7:c.A597G:p.P199P,COPE:NM_001330469:exon9:c.A819G:p.P273P,COPE:NM_007263:exon8:c.A750G:p.P250P, chr19 19011244 19011244 T C het . 7 +line37520 synonymous SNV COPE:NM_199444:exon2:c.A129G:p.L43L,COPE:NM_199442:exon2:c.A129G:p.L43L,COPE:NM_001330469:exon2:c.A129G:p.L43L,COPE:NM_007263:exon2:c.A129G:p.L43L, chr19 19023853 19023853 T C het . 18 +line37530 nonsynonymous SNV HOMER3:NM_001145722:exon10:c.C1026G:p.S342R,HOMER3:NM_004838:exon10:c.C1026G:p.S342R,HOMER3:NM_001145721:exon10:c.C1017G:p.S339R,HOMER3:NM_001145724:exon8:c.C918G:p.S306R, chr19 19040312 19040312 G C het . 8 +line37531 synonymous SNV HOMER3:NM_001145722:exon4:c.C271T:p.L91L,HOMER3:NM_004838:exon4:c.C271T:p.L91L,HOMER3:NM_001145721:exon4:c.C271T:p.L91L,HOMER3:NM_001145724:exon3:c.C271T:p.L91L, chr19 19049194 19049194 G A het . 6 +line37533 synonymous SNV SUGP2:NM_001321697:exon10:c.C3165T:p.D1055D,SUGP2:NM_001321699:exon10:c.C3207T:p.D1069D,SUGP2:NM_001017392:exon10:c.C3165T:p.D1055D,SUGP2:NM_014884:exon10:c.C3165T:p.D1055D,SUGP2:NM_001321698:exon10:c.C3207T:p.D1069D,SUGP2:NM_001352071:exon10:c.C3165T:p.D1055D, chr19 19105259 19105259 G A het . 10 +line37535 synonymous SNV SLC25A42:NM_178526:exon3:c.G150A:p.A50A,SLC25A42:NM_001321544:exon3:c.G150A:p.A50A, chr19 19212658 19212658 G A het . 18 +line37538 synonymous SNV TMEM161A:NM_001256766:exon10:c.T1002C:p.A334A,TMEM161A:NM_017814:exon12:c.T1311C:p.A437A, chr19 19230868 19230868 A G het . 25 +line37543 nonsynonymous SNV RFXANK:NM_134440:exon3:c.T116G:p.V39G,RFXANK:NM_001278727:exon3:c.T116G:p.V39G,RFXANK:NM_003721:exon3:c.T116G:p.V39G,RFXANK:NM_001278728:exon2:c.T116G:p.V39G, chr19 19304871 19304871 T G het . 23 +line37544 nonsynonymous SNV RFXANK:NM_134440:exon3:c.G144C:p.E48D,RFXANK:NM_001278727:exon3:c.G144C:p.E48D,RFXANK:NM_003721:exon3:c.G144C:p.E48D,RFXANK:NM_001278728:exon2:c.G144C:p.E48D, chr19 19304899 19304899 G C het . 28 +line37551 synonymous SNV NCAN:NM_004386:exon10:c.C3147T:p.D1049D, chr19 19345802 19345802 C T het . 10 +line37554 synonymous SNV TM6SF2:NM_001001524:exon4:c.C387A:p.G129G, chr19 19380996 19380996 G T het . 5 +line37555 synonymous SNV SUGP1:NM_172231:exon9:c.C1299T:p.G433G, chr19 19391045 19391045 G A het . 13 +line37558 synonymous SNV MAU2:NM_015329:exon3:c.G300A:p.P100P, chr19 19446936 19446936 G A het . 17 +line37560 synonymous SNV MAU2:NM_015329:exon5:c.G489T:p.S163S, chr19 19449686 19449686 G T het . 10 +line37580 synonymous SNV GATAD2A:NM_001300946:exon7:c.G696A:p.S232S,GATAD2A:NM_001359631:exon6:c.G696A:p.S232S,GATAD2A:NM_017660:exon6:c.G696A:p.S232S, chr19 19606634 19606634 G A het . 13 +line37581 synonymous SNV TSSK6:NM_032037:exon1:c.T690C:p.Y230Y, chr19 19625547 19625547 A G het . 20 +line37593 synonymous SNV LPAR2:NM_004720:exon3:c.C864A:p.S288S, chr19 19735257 19735257 G T het . 16 +line37594 synonymous SNV LPAR2:NM_004720:exon2:c.G408A:p.V136V, chr19 19737686 19737686 C T het . 9 +line37598 synonymous SNV ATP13A1:NM_020410:exon9:c.C1230T:p.C410C, chr19 19766726 19766726 G A het . 21 +line37605 nonsynonymous SNV ZNF101:NM_033204:exon4:c.A380G:p.H127R,ZNF101:NM_001300949:exon4:c.A20G:p.H7R, chr19 19790178 19790178 A G het . 15 +line37618 nonsynonymous SNV ZNF56:NM_001355194:exon3:c.A448G:p.T150A, chr19 19946637 19946637 A G het . 22 +line37627 nonsynonymous SNV ZNF682:NM_033196:exon4:c.C626T:p.T209I,ZNF682:NM_001077349:exon4:c.C530T:p.T177I, chr19 20117685 20117685 G A het . 18 +line37675 nonsynonymous SNV ZNF737:NM_001159293:exon4:c.A1546G:p.K516E, chr19 20727463 20727463 T C het . 16 +line37676 synonymous SNV ZNF737:NM_001159293:exon4:c.C1077T:p.H359H, chr19 20727932 20727932 G A het . 13 +line37693 frameshift insertion ZNF626:NM_001076675:exon4:c.1505dupT:p.I502fs, chr19 20807177 20807177 - A het . 5 +line37694 nonsynonymous SNV ZNF626:NM_001076675:exon4:c.G1498A:p.E500K, chr19 20807185 20807185 C T het . 2 +line37695 synonymous SNV ZNF626:NM_001076675:exon4:c.T534C:p.C178C, chr19 20808149 20808149 A G het . 24 +line37714 nonsynonymous SNV ZNF66:NM_001355197:exon4:c.G302A:p.R101K, chr19 20988708 20988708 G A het . 4 +line37726 synonymous SNV ZNF85:NM_003429:exon4:c.A408G:p.Q136Q,ZNF85:NM_001256171:exon5:c.A498G:p.Q166Q,ZNF85:NM_001256173:exon3:c.A216G:p.Q72Q, chr19 21131728 21131728 A G het . 19 +line37738 nonframeshift insertion ZNF714:NM_182515:exon5:c.304_305insATA:p.Y102delinsYN, chr19 21299774 21299774 - ATA het . 27 +line37739 nonsynonymous SNV ZNF714:NM_182515:exon5:c.A992G:p.K331R, chr19 21300462 21300462 A G het . 17 +line37754 nonsynonymous SNV ZNF708:NM_001297560:exon4:c.A145G:p.K49E,ZNF708:NM_021269:exon4:c.A337G:p.K113E,ZNF708:NM_001297561:exon3:c.A145G:p.K49E, chr19 21477431 21477431 T C het . 21 +line37762 nonsynonymous SNV ZNF738:NM_001355240:exon2:c.G7A:p.D3N,ZNF738:NM_001355239:exon2:c.G7A:p.D3N,ZNF738:NM_001355237:exon2:c.G7A:p.D3N,ZNF738:NM_001355241:exon2:c.G7A:p.D3N, chr19 21544571 21544571 G A het . 16 +line37771 nonsynonymous SNV ZNF493:NM_001076678:exon4:c.G968T:p.C323F,ZNF493:NM_175910:exon2:c.G584T:p.C195F, chr19 21606429 21606429 G T het . 16 +line37778 synonymous SNV ZNF429:NM_001346914:exon4:c.T450C:p.F150F,ZNF429:NM_001001415:exon4:c.T546C:p.F182F,ZNF429:NM_001346913:exon5:c.T450C:p.F150F,ZNF429:NM_001346912:exon4:c.T540C:p.F180F,ZNF429:NM_001346916:exon3:c.T354C:p.F118F,ZNF429:NM_001346915:exon5:c.T450C:p.F150F, chr19 21719401 21719401 T C het . 19 +line37826 nonsynonymous SNV ZNF100:NM_001351671:exon4:c.C863T:p.T288I,ZNF100:NM_001351670:exon4:c.C1067T:p.T356I,ZNF100:NM_173531:exon5:c.C1166T:p.T389I,ZNF100:NM_001351672:exon3:c.C521T:p.T174I,ZNF100:NM_001351669:exon5:c.C1163T:p.T388I, chr19 21909948 21909948 G A het . 16 +line37846 nonsynonymous SNV ZNF208:NM_007153:exon4:c.A3104G:p.D1035G, chr19 22154732 22154732 T C het . 10 +line37847 nonsynonymous SNV ZNF208:NM_007153:exon4:c.G2882A:p.S961N, chr19 22154954 22154954 C T het . 25 +line37848 nonsynonymous SNV ZNF208:NM_007153:exon4:c.C1354A:p.P452T, chr19 22156482 22156482 G T het . 15 +line37849 nonsynonymous SNV ZNF208:NM_007153:exon4:c.G844A:p.E282K, chr19 22156992 22156992 C T het . 34 +line37850 synonymous SNV ZNF208:NM_007153:exon4:c.C534T:p.Y178Y, chr19 22157302 22157302 G A het . 4 +line37867 nonsynonymous SNV ZNF676:NM_001001411:exon3:c.G286A:p.E96K, chr19 22364233 22364233 C T het . 24 +line37870 nonsynonymous SNV ZNF676:NM_001001411:exon2:c.G80A:p.G27E, chr19 22375868 22375868 C T het . 16 +line37885 nonsynonymous SNV ZNF99:NM_001080409:exon4:c.G740A:p.C247Y, chr19 22941971 22941971 C T het . 31 +line37901 nonsynonymous SNV ZNF730:NM_001277403:exon4:c.G1094A:p.G365E, chr19 23328940 23328940 G A het . 22 +line37909 synonymous SNV ZNF724:NM_001355406:exon5:c.A1572C:p.G524G,ZNF724:NM_001355405:exon4:c.A1398C:p.G466G,ZNF724:NM_001355404:exon4:c.A1590C:p.G530G, chr19 23405457 23405457 T G het . 24 +line37910 synonymous SNV ZNF724:NM_001355406:exon5:c.A1449G:p.L483L,ZNF724:NM_001355405:exon4:c.A1275G:p.L425L,ZNF724:NM_001355404:exon4:c.A1467G:p.L489L, chr19 23405580 23405580 T C het . 10 +line37911 synonymous SNV ZNF724:NM_001355406:exon5:c.A864G:p.S288S,ZNF724:NM_001355405:exon4:c.A690G:p.S230S,ZNF724:NM_001355404:exon4:c.A882G:p.S294S, chr19 23406165 23406165 T C het . 12 +line37912 synonymous SNV ZNF724:NM_001355406:exon5:c.C228G:p.A76A,ZNF724:NM_001355405:exon4:c.C54G:p.A18A,ZNF724:NM_001355404:exon4:c.C246G:p.A82A, chr19 23406801 23406801 G C het . 4 +line37924 synonymous SNV ZNF91:NM_001300951:exon3:c.C2988G:p.G996G,ZNF91:NM_003430:exon4:c.C3084G:p.G1028G, chr19 23542697 23542697 G C het . 24 +line37925 synonymous SNV ZNF91:NM_001300951:exon3:c.T435C:p.T145T,ZNF91:NM_003430:exon4:c.T531C:p.T177T, chr19 23545250 23545250 A G het . 19 +line37947 nonsynonymous SNV ZNF675:NM_138330:exon4:c.T590C:p.V197A, chr19 23837145 23837145 A G het . 33 +line37948 nonsynonymous SNV ZNF675:NM_138330:exon4:c.T370G:p.L124V, chr19 23837365 23837365 A C het . 25 +line37974 synonymous SNV ZNF681:NM_138286:exon4:c.T1644C:p.H548H, chr19 23926708 23926708 A G het . 18 +line37975 nonsynonymous SNV ZNF681:NM_138286:exon4:c.G1100A:p.R367K, chr19 23927252 23927252 C T het . 8 +line37976 nonsynonymous SNV ZNF681:NM_138286:exon4:c.T884C:p.L295S, chr19 23927468 23927468 A G het . 15 +line37977 nonsynonymous SNV ZNF681:NM_138286:exon4:c.G250C:p.D84H, chr19 23928102 23928102 C G het . 13 +line38377 synonymous SNV UQCRFS1:NM_006003:exon1:c.A24G:p.S8S, chr19 29704002 29704002 T C het . 5 +line38378 nonsynonymous SNV UQCRFS1:NM_006003:exon1:c.T16G:p.S6A, chr19 29704010 29704010 A C het . 6 +line38389 nonsynonymous SNV VSTM2B:NM_001146339:exon4:c.G595C:p.D199H, chr19 30021023 30021023 G C het . 7 +line38409 synonymous SNV C19orf12:NM_001282929:exon2:c.C132T:p.T44T,C19orf12:NM_001282930:exon2:c.C132T:p.T44T,C19orf12:NM_031448:exon3:c.C324T:p.T108T,C19orf12:NM_001031726:exon3:c.C357T:p.T119T,C19orf12:NM_001256047:exon3:c.C324T:p.T108T,C19orf12:NM_001282931:exon4:c.C132T:p.T44T, chr19 30193721 30193721 G A het . 15 +line38415 synonymous SNV CCNE1:NM_001322262:exon11:c.C1170T:p.S390S,CCNE1:NM_001322259:exon11:c.C1080T:p.S360S,CCNE1:NM_001238:exon12:c.C1215T:p.S405S,CCNE1:NM_001322261:exon11:c.C1068T:p.S356S, chr19 30314666 30314666 C T het . 7 +line38435 nonframeshift deletion URI1:NM_001252641:exon8:c.840_845del:p.280_282del,URI1:NM_003796:exon8:c.894_899del:p.298_300del, chr19 30500119 30500124 TGATGA - het . 16 +line38436 stopgain URI1:NM_001252641:exon8:c.T954A:p.Y318X,URI1:NM_003796:exon8:c.T1008A:p.Y336X, chr19 30500233 30500233 T A het . 6 +line38470 synonymous SNV TSHZ3:NM_020856:exon2:c.C936T:p.V312V, chr19 31769763 31769763 G A het . 19 +line38471 synonymous SNV TSHZ3:NM_020856:exon2:c.G690A:p.T230T, chr19 31770009 31770009 C T het . 5 +line38478 synonymous SNV THEG5:NM_001278577:exon4:c.T174C:p.T58T,THEG5:NM_001278576:exon4:c.T174C:p.T58T,THEG5:NM_001278578:exon3:c.T174C:p.T58T,THEG5:NM_001205273:exon2:c.T198C:p.T66T,THEG5:NM_001278575:exon3:c.T174C:p.T58T, chr19 32083696 32083696 T C het . 18 +line38493 synonymous SNV ZNF507:NM_014910:exon6:c.A2571G:p.S857S,ZNF507:NM_001136156:exon7:c.A2571G:p.S857S, chr19 32873698 32873698 A G het . 15 +line38503 synonymous SNV DPY19L3:NM_001172774:exon19:c.C2082T:p.Y694Y,DPY19L3:NM_207325:exon19:c.C2082T:p.Y694Y, chr19 32973077 32973077 C T het . 20 +line38509 nonsynonymous SNV ANKRD27:NM_032139:exon23:c.C2282G:p.P761R, chr19 33098632 33098632 G C het . 8 +line38516 synonymous SNV ANKRD27:NM_032139:exon22:c.G2118A:p.A706A, chr19 33106621 33106621 C T het . 18 +line38518 nonsynonymous SNV ANKRD27:NM_032139:exon20:c.A1969G:p.S657G, chr19 33110204 33110204 T C het . 4 +line38519 synonymous SNV ANKRD27:NM_032139:exon16:c.A1488G:p.G496G, chr19 33117666 33117666 T C het . 12 +line38528 nonsynonymous SNV RGS9BP:NM_207391:exon1:c.G286T:p.A96S, chr19 33167455 33167455 G T het . 4 +line38530 synonymous SNV NUDT19:NM_001105570:exon1:c.T399C:p.F133F, chr19 33183265 33183265 T C het . 13 +line38533 nonsynonymous SNV CEP89:NM_032816:exon19:c.A2237T:p.Q746L, chr19 33370183 33370183 T A het . 17 +line38534 synonymous SNV CEP89:NM_032816:exon16:c.C1842T:p.N614N, chr19 33390796 33390796 G A het . 28 +line38562 synonymous SNV FAAP24:NM_001300978:exon3:c.G132A:p.E44E,FAAP24:NM_152266:exon5:c.G417A:p.E139E, chr19 33467357 33467357 G A het . 12 +line38563 synonymous SNV FAAP24:NM_001300978:exon3:c.G351A:p.T117T,FAAP24:NM_152266:exon5:c.G636A:p.T212T, chr19 33467576 33467576 G A het . 8 +line38569 synonymous SNV RHPN2:NM_033103:exon11:c.C1281G:p.A427A, chr19 33487071 33487071 G C het . 14 +line38580 nonsynonymous SNV GPATCH1:NM_018025:exon15:c.T2183C:p.L728S, chr19 33605312 33605312 T C het . 11 +line38581 synonymous SNV GPATCH1:NM_018025:exon16:c.C2199A:p.T733T, chr19 33608733 33608733 C A het . 6 +line38584 synonymous SNV WDR88:NM_173479:exon3:c.C399T:p.D133D, chr19 33635761 33635761 C T het . 21 +line38592 nonsynonymous SNV LRP3:NM_002333:exon7:c.T2123C:p.V708A, chr19 33698291 33698291 T C het . 11 +line38610 nonsynonymous SNV PEPD:NM_001166057:exon12:c.C1111T:p.L371F,PEPD:NM_001166056:exon12:c.C1180T:p.L394F,PEPD:NM_000285:exon14:c.C1303T:p.L435F, chr19 33878837 33878837 G A het . 12 +line38628 nonsynonymous SNV CHST8:NM_001127895:exon5:c.C229T:p.R77W,CHST8:NM_001127896:exon4:c.C229T:p.R77W,CHST8:NM_022467:exon4:c.C229T:p.R77W, chr19 34262922 34262922 C T het . 14 +line38651 nonsynonymous SNV KIAA0355:NM_014686:exon10:c.C2128A:p.P710T, chr19 34832967 34832967 C A het . 13 +line38652 synonymous SNV KIAA0355:NM_014686:exon13:c.T2895C:p.D965D, chr19 34842488 34842488 T C het . 9 +line38669 synonymous SNV UBA2:NM_005499:exon17:c.A1776G:p.S592S, chr19 34959979 34959979 A G het . 6 +line38682 nonsynonymous SNV ZNF302:NM_001289185:exon5:c.A269G:p.Y90C,ZNF302:NM_001289184:exon5:c.A269G:p.Y90C,ZNF302:NM_001289186:exon5:c.A266G:p.Y89C,ZNF302:NM_018443:exon5:c.A266G:p.Y89C,ZNF302:NM_001289187:exon5:c.A266G:p.Y89C,ZNF302:NM_001289181:exon6:c.A398G:p.Y133C,ZNF302:NM_001289183:exon5:c.A266G:p.Y89C,ZNF302:NM_001289182:exon5:c.A269G:p.Y90C,ZNF302:NM_001012320:exon5:c.A266G:p.Y89C, chr19 35175208 35175208 A G het . 33 +line38683 nonsynonymous SNV ZNF302:NM_001289185:exon5:c.C836T:p.T279I,ZNF302:NM_001289184:exon5:c.C836T:p.T279I,ZNF302:NM_001289186:exon5:c.C833T:p.T278I,ZNF302:NM_018443:exon5:c.C833T:p.T278I,ZNF302:NM_001289187:exon5:c.C833T:p.T278I,ZNF302:NM_001289181:exon6:c.C965T:p.T322I,ZNF302:NM_001289183:exon5:c.C833T:p.T278I,ZNF302:NM_001289182:exon5:c.C836T:p.T279I,ZNF302:NM_001012320:exon5:c.C833T:p.T278I, chr19 35175775 35175775 C T het . 9 +line38696 nonsynonymous SNV ZNF30:NM_001099438:exon3:c.C71T:p.S24F,ZNF30:NM_194325:exon3:c.C71T:p.S24F,ZNF30:NM_001099437:exon3:c.C71T:p.S24F, chr19 35422808 35422808 C T het . 10 +line38699 nonsynonymous SNV ZNF30:NM_001099438:exon5:c.A371G:p.Q124R,ZNF30:NM_194325:exon5:c.A368G:p.Q123R,ZNF30:NM_001099437:exon5:c.A371G:p.Q124R, chr19 35434238 35434238 A G het . 36 +line38700 nonsynonymous SNV ZNF30:NM_001099438:exon5:c.A581G:p.K194R,ZNF30:NM_194325:exon5:c.A578G:p.K193R,ZNF30:NM_001099437:exon5:c.A581G:p.K194R, chr19 35434448 35434448 A G het . 13 +line38701 synonymous SNV ZNF30:NM_001099438:exon5:c.T645C:p.S215S,ZNF30:NM_194325:exon5:c.T642C:p.S214S,ZNF30:NM_001099437:exon5:c.T645C:p.S215S, chr19 35434512 35434512 T C het . 13 +line38702 nonsynonymous SNV ZNF30:NM_001099438:exon5:c.G1139A:p.R380K,ZNF30:NM_194325:exon5:c.G1136A:p.R379K,ZNF30:NM_001099437:exon5:c.G1139A:p.R380K, chr19 35435006 35435006 G A het . 19 +line38704 synonymous SNV ZNF792:NM_175872:exon4:c.C1350T:p.H450H, chr19 35449409 35449409 G A het . 8 +line38705 synonymous SNV ZNF792:NM_175872:exon4:c.C999G:p.T333T, chr19 35449760 35449760 G C het . 12 +line38734 synonymous SNV LGI4:NM_139284:exon5:c.T456C:p.H152H, chr19 35622695 35622695 A G het . 6 +line38742 nonsynonymous SNV FXYD5:NM_014164:exon9:c.G527A:p.R176H,FXYD5:NM_144779:exon9:c.G527A:p.R176H,FXYD5:NM_001320913:exon8:c.G434A:p.R145H,FXYD5:NM_001164605:exon9:c.G527A:p.R176H, chr19 35660508 35660508 G A het . 14 +line38747 stopgain FAM187B:NM_152481:exon1:c.G564A:p.W188X, chr19 35719020 35719020 C T het . 12 +line38748 nonsynonymous SNV FAM187B:NM_152481:exon1:c.T478C:p.C160R, chr19 35719106 35719106 A G het . 14 +line38750 synonymous SNV LSR:NM_015925:exon2:c.T492C:p.V164V,LSR:NM_205834:exon2:c.T492C:p.V164V,LSR:NM_001260489:exon2:c.T492C:p.V164V,LSR:NM_001260490:exon2:c.T492C:p.V164V,LSR:NM_205835:exon2:c.T492C:p.V164V, chr19 35741456 35741456 T C het . 10 +line38751 nonsynonymous SNV LSR:NM_015925:exon5:c.G1031A:p.S344N,LSR:NM_205834:exon6:c.G1088A:p.S363N,LSR:NM_001260489:exon5:c.G1031A:p.S344N,LSR:NM_001260490:exon3:c.G764A:p.S255N,LSR:NM_205835:exon4:c.G884A:p.S295N, chr19 35757427 35757427 G A het . 3 +line38752 nonframeshift insertion LSR:NM_015925:exon8:c.1495_1496insGGA:p.G499delinsGR,LSR:NM_205834:exon9:c.1552_1553insGGA:p.G518delinsGR,LSR:NM_001260489:exon8:c.1492_1493insGGA:p.G498delinsGR,LSR:NM_001260490:exon6:c.1228_1229insGGA:p.G410delinsGR,LSR:NM_205835:exon7:c.1348_1349insGGA:p.G450delinsGR, chr19 35758275 35758275 - GGA het . 18 +line38757 synonymous SNV MAG:NM_080600:exon7:c.C1209T:p.T403T,MAG:NM_001199216:exon7:c.C1134T:p.T378T,MAG:NM_002361:exon7:c.C1209T:p.T403T, chr19 35793589 35793589 C T het . 7 +line38761 synonymous SNV CD22:NM_001278417:exon11:c.C1788A:p.P596P,CD22:NM_001185101:exon10:c.C1773A:p.P591P,CD22:NM_001771:exon12:c.C2304A:p.P768P,CD22:NM_001185099:exon11:c.C2040A:p.P680P, chr19 35836600 35836600 C A het . 10 +line38762 nonsynonymous SNV FFAR1:NM_005303:exon1:c.G632A:p.R211H, chr19 35843086 35843086 G A het . 20 +line38765 nonsynonymous SNV FFAR3:NM_005304:exon2:c.G134A:p.R45H, chr19 35849926 35849926 G A het . 33 +line38770 nonsynonymous SNV DMKN:NM_001352329:exon7:c.A221C:p.D74A,DMKN:NM_001352328:exon7:c.A368C:p.D123A,DMKN:NM_033317:exon12:c.A1280C:p.D427A,DMKN:NM_001126056:exon14:c.A1247C:p.D416A,DMKN:NM_001308380:exon8:c.A419C:p.D140A,DMKN:NM_001190347:exon12:c.A1157C:p.D386A,DMKN:NM_001035516:exon2:c.A122C:p.D41A,DMKN:NM_001126059:exon8:c.A419C:p.D140A,DMKN:NM_001308383:exon7:c.A368C:p.D123A,DMKN:NM_001352330:exon8:c.A221C:p.D74A, chr19 35991442 35991442 T G het . 13 +line38771 nonsynonymous SNV DMKN:NM_001190348:exon1:c.T272C:p.V91A,DMKN:NM_001190349:exon1:c.T272C:p.V91A,DMKN:NM_001126058:exon1:c.T272C:p.V91A,DMKN:NM_033317:exon1:c.T272C:p.V91A,DMKN:NM_001126056:exon1:c.T272C:p.V91A,DMKN:NM_001190347:exon1:c.T272C:p.V91A,DMKN:NM_001126057:exon1:c.T272C:p.V91A, chr19 36004106 36004106 A G het . 29 +line38776 nonsynonymous SNV ATP4A:NM_000704:exon7:c.T794C:p.V265A, chr19 36050969 36050969 A G het . 9 +line38784 nonsynonymous SNV ETV2:NM_014209:exon5:c.G268A:p.D90N, chr19 36134208 36134208 G A het . 3 +line38791 nonsynonymous SNV UPK1A:NM_007000:exon2:c.C26T:p.A9V,UPK1A:NM_001281443:exon2:c.C26T:p.A9V, chr19 36157740 36157740 C T het . 12 +line38792 nonsynonymous SNV UPK1A:NM_007000:exon3:c.T97G:p.S33A,UPK1A:NM_001281443:exon3:c.T97G:p.S33A, chr19 36159368 36159368 T G het . 14 +line38798 nonsynonymous SNV UPK1A:NM_007000:exon8:c.T770C:p.M257T, chr19 36168914 36168914 T C het . 4 +line38802 nonsynonymous SNV ZBTB32:NM_014383:exon3:c.A522C:p.R174S, chr19 36206050 36206050 A C het . 16 +line38803 stopgain KMT2B:NM_014727:exon8:c.C3275A:p.S1092X, chr19 36214849 36214849 C A het . 9 +line38807 nonsynonymous SNV KMT2B:NM_014727:exon27:c.C5486T:p.P1829L, chr19 36222857 36222857 C T het . 17 +line38809 synonymous SNV KMT2B:NM_014727:exon28:c.A6297G:p.A2099A, chr19 36223747 36223747 A G het . 11 +line38810 nonsynonymous SNV KMT2B:NM_014727:exon30:c.A7091G:p.D2364G, chr19 36224705 36224705 A G het . 9 +line38811 nonsynonymous SNV IGFLR1:NM_024660:exon4:c.T655C:p.S219P, chr19 36230677 36230677 A G het . 3 +line38812 nonsynonymous SNV IGFLR1:NM_024660:exon4:c.T565C:p.W189R, chr19 36230767 36230767 A G het . 9 +line38819 nonsynonymous SNV LIN37:NM_019104:exon2:c.T47C:p.V16A, chr19 36243089 36243089 T C het . 21 +line38825 nonsynonymous SNV PROSER3:NM_001039887:exon9:c.C974T:p.A325V, chr19 36258721 36258721 C T het . 5 +line38826 nonsynonymous SNV PROSER3:NM_001039887:exon9:c.G1095C:p.K365N, chr19 36258842 36258842 G C het . 16 +line38828 synonymous SNV ARHGAP33:NM_052948:exon3:c.C150T:p.A50A, chr19 36268771 36268771 C T het . 18 +line38835 nonframeshift deletion ARHGAP33:NM_001172630:exon19:c.1632_1646del:p.544_549del, chr19 36277412 36277426 GTCCTCCTCCTCCGA - het . 17 +line38836 synonymous SNV PRODH2:NM_021232:exon5:c.A768G:p.P256P, chr19 36302921 36302921 T C het . 15 +line38837 nonsynonymous SNV PRODH2:NM_021232:exon2:c.C272A:p.P91H, chr19 36303664 36303664 G T het . 3 +line38841 synonymous SNV NPHS1:NM_004646:exon26:c.G3315A:p.S1105S, chr19 36322270 36322270 C T het . 21 +line38843 nonsynonymous SNV NPHS1:NM_004646:exon3:c.G349A:p.E117K, chr19 36342212 36342212 C T het . 22 +line38844 nonsynonymous SNV KIRREL2:NM_032123:exon14:c.A1771G:p.K591E,KIRREL2:NM_001329530:exon13:c.A1621G:p.K541E,KIRREL2:NM_199179:exon13:c.A1621G:p.K541E,KIRREL2:NM_199180:exon14:c.A1771G:p.K591E,KIRREL2:NM_001363667:exon13:c.A1666G:p.K556E, chr19 36355595 36355595 A G het . 12 +line38851 nonsynonymous SNV SDHAF1:NM_001042631:exon1:c.G269C:p.C90S, chr19 36486445 36486445 G C het . 10 +line38853 nonsynonymous SNV SYNE4:NM_001297735:exon3:c.G495C:p.Q165H,SYNE4:NM_001039876:exon5:c.G834C:p.Q278H, chr19 36497358 36497358 C G het . 7 +line38854 synonymous SNV SYNE4:NM_001297735:exon2:c.G225A:p.P75P,SYNE4:NM_001039876:exon2:c.G225A:p.P75P, chr19 36499173 36499173 C T het . 4 +line38859 synonymous SNV CLIP3:NM_015526:exon6:c.G675T:p.A225A,CLIP3:NM_001199570:exon5:c.G675T:p.A225A, chr19 36517055 36517055 C A het . 5 +line38861 nonsynonymous SNV THAP8:NM_152658:exon3:c.C565T:p.R189W,THAP8:NM_001331103:exon3:c.C436T:p.R146W,THAP8:NM_001331104:exon3:c.C436T:p.R146W, chr19 36530332 36530332 G A het . 10 +line38862 nonsynonymous SNV THAP8:NM_152658:exon3:c.G554A:p.R185Q,THAP8:NM_001331103:exon3:c.G425A:p.R142Q,THAP8:NM_001331104:exon3:c.G425A:p.R142Q, chr19 36530343 36530343 C T het . 8 +line38866 nonsynonymous SNV WDR62:NM_173636:exon6:c.A653G:p.N218S,WDR62:NM_001083961:exon6:c.A653G:p.N218S, chr19 36558299 36558299 A G het . 37 +line38879 nonsynonymous SNV WDR62:NM_173636:exon22:c.T2549C:p.L850S,WDR62:NM_001083961:exon22:c.T2549C:p.L850S, chr19 36590329 36590329 T C het . 30 +line38881 nonsynonymous SNV WDR62:NM_173636:exon30:c.A3914T:p.Q1305L,WDR62:NM_001083961:exon30:c.A3929T:p.Q1310L, chr19 36594659 36594659 A T het . 3 +line38882 synonymous SNV WDR62:NM_173636:exon30:c.C4008A:p.G1336G,WDR62:NM_001083961:exon30:c.C4023A:p.G1341G, chr19 36594753 36594753 C A het . 12 +line38883 nonsynonymous SNV WDR62:NM_173636:exon31:c.A4155C:p.L1385F,WDR62:NM_001083961:exon31:c.A4170C:p.L1390F, chr19 36595436 36595436 A C het . 5 +line38885 synonymous SNV OVOL3:NM_001302757:exon3:c.T201A:p.P67P, chr19 36603703 36603703 T A het . 9 +line38892 nonsynonymous SNV ZNF565:NM_001042474:exon5:c.T563C:p.I188T,ZNF565:NM_152477:exon5:c.T563C:p.I188T, chr19 36674305 36674305 A G het . 21 +line38918 synonymous SNV ZNF566:NM_032838:exon5:c.C376A:p.R126R,ZNF566:NM_001145343:exon5:c.C379A:p.R127R,ZNF566:NM_001300970:exon4:c.C64A:p.R22R,ZNF566:NM_001145345:exon5:c.C376A:p.R126R,ZNF566:NM_001145344:exon5:c.C376A:p.R126R, chr19 36940760 36940760 G T het . 37 +line38922 synonymous SNV ZNF260:NM_001166036:exon4:c.A1203G:p.S401S,ZNF260:NM_001166038:exon3:c.A1203G:p.S401S,ZNF260:NM_001166037:exon3:c.A1203G:p.S401S,ZNF260:NM_001012756:exon4:c.A1203G:p.S401S, chr19 37004938 37004938 T C het . 10 +line38923 nonsynonymous SNV ZNF260:NM_001166036:exon4:c.G1005T:p.K335N,ZNF260:NM_001166038:exon3:c.G1005T:p.K335N,ZNF260:NM_001166037:exon3:c.G1005T:p.K335N,ZNF260:NM_001012756:exon4:c.G1005T:p.K335N, chr19 37005136 37005136 C A het . 26 +line38926 nonsynonymous SNV ZNF529:NM_001352273:exon6:c.T76G:p.L26V,ZNF529:NM_001145650:exon5:c.T337G:p.L113V,ZNF529:NM_020951:exon5:c.T391G:p.L131V,ZNF529:NM_001352272:exon7:c.T76G:p.L26V,ZNF529:NM_001145649:exon6:c.T391G:p.L131V,ZNF529:NM_001321351:exon6:c.T76G:p.L26V, chr19 37039069 37039069 A C het . 23 +line38927 nonsynonymous SNV ZNF529:NM_001145650:exon5:c.G207T:p.K69N,ZNF529:NM_020951:exon5:c.G261T:p.K87N,ZNF529:NM_001145649:exon6:c.G261T:p.K87N, chr19 37039199 37039199 C A het . 10 +line38928 stopgain ZNF529:NM_001145650:exon5:c.G199T:p.E67X,ZNF529:NM_020951:exon5:c.G253T:p.E85X,ZNF529:NM_001145649:exon6:c.G253T:p.E85X, chr19 37039207 37039207 C A het . 11 +line38934 nonsynonymous SNV ZNF382:NM_001256838:exon5:c.A500G:p.E167G,ZNF382:NM_032825:exon5:c.A503G:p.E168G, chr19 37117302 37117302 A G het . 14 +line38941 synonymous SNV ZNF567:NM_001322915:exon7:c.C1179T:p.Y393Y,ZNF567:NM_001322912:exon5:c.C1086T:p.Y362Y,ZNF567:NM_001322920:exon7:c.C1179T:p.Y393Y,ZNF567:NM_001322919:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322918:exon7:c.C1179T:p.Y393Y,ZNF567:NM_001300979:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322911:exon5:c.C1086T:p.Y362Y,ZNF567:NM_152603:exon5:c.C1086T:p.Y362Y,ZNF567:NM_001322914:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322913:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322916:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322917:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001363651:exon4:c.C1086T:p.Y362Y, chr19 37210805 37210805 C T het . 18 +line38943 synonymous SNV ZNF850:NM_001267779:exon4:c.G2568T:p.R856R,ZNF850:NM_001193552:exon5:c.G2664T:p.R888R, chr19 37239278 37239278 C A het . 29 +line38944 synonymous SNV ZNF850:NM_001267779:exon4:c.T705C:p.H235H,ZNF850:NM_001193552:exon5:c.T801C:p.H267H, chr19 37241141 37241141 A G het . 28 +line38945 nonsynonymous SNV ZNF850:NM_001267779:exon4:c.G359T:p.C120F,ZNF850:NM_001193552:exon5:c.G455T:p.C152F, chr19 37241487 37241487 C A het . 20 +line38947 nonsynonymous SNV ZNF790:NM_206894:exon5:c.A902G:p.Q301R,ZNF790:NM_001242800:exon5:c.A902G:p.Q301R,ZNF790:NM_001242802:exon5:c.A902G:p.Q301R,ZNF790:NM_001242801:exon5:c.A902G:p.Q301R, chr19 37310344 37310344 T C het . 15 +line38955 synonymous SNV ZNF568:NM_001204835:exon7:c.C1053T:p.H351H,ZNF568:NM_001204837:exon5:c.C864T:p.H288H,ZNF568:NM_001204836:exon6:c.C864T:p.H288H,ZNF568:NM_198539:exon7:c.C1056T:p.H352H, chr19 37441111 37441111 C T het . 16 +line38956 synonymous SNV ZNF568:NM_001204835:exon7:c.T1404C:p.T468T,ZNF568:NM_001204837:exon5:c.T1215C:p.T405T,ZNF568:NM_001204836:exon6:c.T1215C:p.T405T,ZNF568:NM_198539:exon7:c.T1407C:p.T469T, chr19 37441462 37441462 T C het . 28 +line38964 nonsynonymous SNV ZNF568:NM_001204838:exon8:c.A479G:p.D160G,ZNF568:NM_001204839:exon7:c.A287G:p.D96G, chr19 37482151 37482151 A G het . 18 +line38968 nonsynonymous SNV ZNF568:NM_001204838:exon10:c.G1039A:p.A347T,ZNF568:NM_001204839:exon9:c.G847A:p.A283T, chr19 37487632 37487632 G A het . 21 +line38969 nonsynonymous SNV ZNF568:NM_001204838:exon10:c.A1273T:p.S425C,ZNF568:NM_001204839:exon9:c.A1081T:p.S361C, chr19 37487866 37487866 A T het . 8 +line38970 nonsynonymous SNV ZNF568:NM_001204838:exon10:c.C1280A:p.A427E,ZNF568:NM_001204839:exon9:c.C1088A:p.A363E, chr19 37487873 37487873 C A het . 7 +line38971 nonsynonymous SNV ZNF568:NM_001204838:exon10:c.T1462G:p.Y488D,ZNF568:NM_001204839:exon9:c.T1270G:p.Y424D, chr19 37488055 37488055 T G het . 14 +line38972 nonsynonymous SNV ZNF568:NM_001204838:exon10:c.G1604A:p.C535Y,ZNF568:NM_001204839:exon9:c.G1412A:p.C471Y, chr19 37488197 37488197 G A het . 12 +line38973 nonsynonymous SNV ZNF568:NM_001204838:exon10:c.A1706G:p.E569G,ZNF568:NM_001204839:exon9:c.A1514G:p.E505G, chr19 37488299 37488299 A G het . 14 +line38974 stoploss ZNF568:NM_001204838:exon10:c.T1906C:p.X636R,ZNF568:NM_001204839:exon9:c.T1714C:p.X572R, chr19 37488499 37488499 T C het . 10 +line38992 nonsynonymous SNV HKR1:NM_001329775:exon6:c.C1700T:p.T567I,HKR1:NM_001329767:exon8:c.C1808T:p.T603I,HKR1:NM_001329779:exon5:c.C1541T:p.T514I,HKR1:NM_001329774:exon7:c.C1700T:p.T567I,HKR1:NM_001329766:exon7:c.C1811T:p.T604I,HKR1:NM_001329768:exon5:c.C1787T:p.T596I,HKR1:NM_001329769:exon5:c.C1784T:p.T595I,HKR1:NM_001329770:exon8:c.C1769T:p.T590I,HKR1:NM_181786:exon6:c.C1883T:p.T628I,HKR1:NM_001329764:exon5:c.C1826T:p.T609I,HKR1:NM_001329776:exon4:c.C1700T:p.T567I,HKR1:NM_001329763:exon8:c.C1826T:p.T609I,HKR1:NM_001329773:exon4:c.C1703T:p.T568I,HKR1:NM_001329765:exon8:c.C1811T:p.T604I,HKR1:NM_001329762:exon5:c.C1829T:p.T610I,HKR1:NM_001329772:exon6:c.C1703T:p.T568I,HKR1:NM_001329777:exon6:c.C1700T:p.T567I,HKR1:NM_001329761:exon5:c.C1829T:p.T610I,HKR1:NM_001329771:exon7:c.C1703T:p.T568I,HKR1:NM_001353803:exon5:c.C1826T:p.T609I,HKR1:NM_001329778:exon6:c.C1700T:p.T567I, chr19 37854580 37854580 C T het . 7 +line38994 nonsynonymous SNV ZNF527:NM_032453:exon5:c.A638G:p.H213R, chr19 37879589 37879589 A G het . 23 +line39006 nonsynonymous SNV ZNF570:NM_001321991:exon5:c.C1189A:p.Q397K,ZNF570:NM_001321993:exon5:c.C580A:p.Q194K,ZNF570:NM_001321994:exon4:c.C580A:p.Q194K,ZNF570:NM_001300993:exon6:c.C1357A:p.Q453K,ZNF570:NM_001321992:exon4:c.C1063A:p.Q355K,ZNF570:NM_144694:exon5:c.C1189A:p.Q397K, chr19 37975713 37975713 C A het . 17 +line39017 nonsynonymous SNV ZNF571:NM_001290314:exon5:c.T1718A:p.L573H,ZNF571:NM_016536:exon4:c.T1718A:p.L573H,ZNF571:NM_001321272:exon4:c.T1718A:p.L573H, chr19 38055612 38055612 A T het . 13 +line39018 nonsynonymous SNV ZNF571:NM_001290314:exon5:c.A756T:p.E252D,ZNF571:NM_016536:exon4:c.A756T:p.E252D,ZNF571:NM_001321272:exon4:c.A756T:p.E252D, chr19 38056574 38056574 T A het . 9 +line39021 nonsynonymous SNV ZNF540:NM_152606:exon4:c.A158T:p.D53V,ZNF540:NM_001172225:exon4:c.A158T:p.D53V, chr19 38091932 38091932 A T het . 23 +line39026 nonsynonymous SNV ZNF607:NM_001172677:exon5:c.A1589G:p.K530R,ZNF607:NM_032689:exon5:c.A1592G:p.K531R, chr19 38189440 38189440 T C het . 18 +line39027 synonymous SNV ZNF607:NM_001172677:exon5:c.A1413G:p.T471T,ZNF607:NM_032689:exon5:c.A1416G:p.T472T, chr19 38189616 38189616 T C het . 16 +line39030 nonframeshift substitution ZNF607:NM_001172677:exon2:c.4_5GT,ZNF607:NM_032689:exon2:c.4_5GT, chr19 38202515 38202516 GA AC het . 24 +line39031 nonsynonymous SNV ZNF607:NM_001172677:exon2:c.T4G:p.S2A,ZNF607:NM_032689:exon2:c.T4G:p.S2A, chr19 38202516 38202516 A C het . 24 +line39032 nonsynonymous SNV ZNF573:NM_001172689:exon6:c.A1303G:p.M435V,ZNF573:NM_152360:exon8:c.A1393G:p.M465V,ZNF573:NM_001172691:exon5:c.A1561G:p.M521V,ZNF573:NM_001172690:exon5:c.A1567G:p.M523V,ZNF573:NM_001172692:exon4:c.A1303G:p.M435V, chr19 38229824 38229824 T C het . 24 +line39046 nonsynonymous SNV WDR87:NM_001291088:exon6:c.A7826T:p.H2609L,WDR87:NM_031951:exon6:c.A7709T:p.H2570L, chr19 38376485 38376485 T A het . 10 +line39047 nonsynonymous SNV WDR87:NM_001291088:exon6:c.T6902A:p.V2301E,WDR87:NM_031951:exon6:c.T6785A:p.V2262E, chr19 38377409 38377409 A T het . 11 +line39048 synonymous SNV WDR87:NM_001291088:exon6:c.A6747G:p.K2249K,WDR87:NM_031951:exon6:c.A6630G:p.K2210K, chr19 38377564 38377564 T C het . 24 +line39049 nonsynonymous SNV WDR87:NM_001291088:exon6:c.C6538T:p.R2180W,WDR87:NM_031951:exon6:c.C6421T:p.R2141W, chr19 38377773 38377773 G A het . 20 +line39050 synonymous SNV WDR87:NM_001291088:exon6:c.C6204T:p.S2068S,WDR87:NM_031951:exon6:c.C6087T:p.S2029S, chr19 38378107 38378107 G A het . 36 +line39051 nonsynonymous SNV WDR87:NM_001291088:exon6:c.C5772G:p.N1924K,WDR87:NM_031951:exon6:c.C5655G:p.N1885K, chr19 38378539 38378539 G C het . 43 +line39052 nonsynonymous SNV WDR87:NM_001291088:exon6:c.G4882T:p.A1628S,WDR87:NM_031951:exon6:c.G4765T:p.A1589S, chr19 38379429 38379429 C A het . 34 +line39053 nonsynonymous SNV WDR87:NM_001291088:exon6:c.G4865A:p.R1622Q,WDR87:NM_031951:exon6:c.G4748A:p.R1583Q, chr19 38379446 38379446 C T het . 30 +line39054 nonsynonymous SNV WDR87:NM_001291088:exon6:c.G4654T:p.D1552Y,WDR87:NM_031951:exon6:c.G4537T:p.D1513Y, chr19 38379657 38379657 C A het . 26 +line39055 synonymous SNV WDR87:NM_001291088:exon5:c.G3258A:p.P1086P,WDR87:NM_031951:exon5:c.G3141A:p.P1047P, chr19 38382328 38382328 C T het . 33 +line39056 nonsynonymous SNV WDR87:NM_001291088:exon4:c.G1922C:p.G641A,WDR87:NM_031951:exon4:c.G1805C:p.G602A, chr19 38384421 38384421 C G het . 13 +line39061 synonymous SNV SIPA1L3:NM_015073:exon14:c.C3762T:p.S1254S, chr19 38652993 38652993 C T het . 19 +line39065 synonymous SNV CATSPERG:NM_021185:exon2:c.C225T:p.S75S,CATSPERG:NM_001330496:exon2:c.C225T:p.S75S, chr19 38828099 38828099 C T het . 24 +line39067 synonymous SNV CATSPERG:NM_021185:exon29:c.G3381A:p.P1127P,CATSPERG:NM_001330496:exon28:c.G3261A:p.P1087P, chr19 38861333 38861333 G A het . 26 +line39068 stopgain GGN:NM_152657:exon4:c.C1939T:p.Q647X, chr19 38875072 38875072 G A het . 5 +line39070 synonymous SNV RASGRP4:NM_001146204:exon13:c.C1386T:p.I462I,RASGRP4:NM_001146205:exon13:c.C1491T:p.I497I,RASGRP4:NM_001146207:exon11:c.C1302T:p.I434I,RASGRP4:NM_170604:exon13:c.C1593T:p.I531I,RASGRP4:NM_001146202:exon13:c.C1551T:p.I517I,RASGRP4:NM_001146206:exon10:c.C1026T:p.I342I,RASGRP4:NM_001146203:exon12:c.C1317T:p.I439I, chr19 38903399 38903399 G A het . 11 +line39072 nonsynonymous SNV RASGRP4:NM_001146204:exon2:c.T53C:p.I18T,RASGRP4:NM_001146205:exon2:c.T53C:p.I18T,RASGRP4:NM_001146207:exon2:c.T53C:p.I18T,RASGRP4:NM_170604:exon2:c.T53C:p.I18T,RASGRP4:NM_001146202:exon2:c.T53C:p.I18T,RASGRP4:NM_001146206:exon2:c.T53C:p.I18T,RASGRP4:NM_001146203:exon2:c.T53C:p.I18T, chr19 38912764 38912764 A G het . 6 +line39075 synonymous SNV RYR1:NM_001042723:exon7:c.A594G:p.L198L,RYR1:NM_000540:exon7:c.A594G:p.L198L, chr19 38935280 38935280 A G het . 21 +line39079 synonymous SNV RYR1:NM_001042723:exon11:c.T1077C:p.A359A,RYR1:NM_000540:exon11:c.T1077C:p.A359A, chr19 38939408 38939408 T C het . 11 +line39083 synonymous SNV RYR1:NM_001042723:exon15:c.G1668A:p.S556S,RYR1:NM_000540:exon15:c.G1668A:p.S556S, chr19 38946182 38946182 G A het . 26 +line39088 synonymous SNV RYR1:NM_001042723:exon19:c.C2286T:p.P762P,RYR1:NM_000540:exon19:c.C2286T:p.P762P, chr19 38949904 38949904 C T het . 18 +line39095 synonymous SNV RYR1:NM_001042723:exon24:c.G2943A:p.T981T,RYR1:NM_000540:exon24:c.G2943A:p.T981T, chr19 38956803 38956803 G A het . 22 +line39096 synonymous SNV RYR1:NM_001042723:exon26:c.C3456T:p.I1152I,RYR1:NM_000540:exon26:c.C3456T:p.I1152I, chr19 38959680 38959680 C T het . 30 +line39099 nonsynonymous SNV RYR1:NM_001042723:exon34:c.C5360T:p.P1787L,RYR1:NM_000540:exon34:c.C5360T:p.P1787L, chr19 38976655 38976655 C T het . 24 +line39102 synonymous SNV RYR1:NM_001042723:exon37:c.A6039G:p.K2013K,RYR1:NM_000540:exon37:c.A6039G:p.K2013K, chr19 38981284 38981284 A G het . 29 +line39104 nonsynonymous SNV RYR1:NM_001042723:exon38:c.G6178T:p.G2060C,RYR1:NM_000540:exon38:c.G6178T:p.G2060C, chr19 38983180 38983180 G T het . 33 +line39107 synonymous SNV RYR1:NM_001042723:exon47:c.G7500A:p.A2500A,RYR1:NM_000540:exon47:c.G7500A:p.A2500A, chr19 38991516 38991516 G A het . 34 +line39108 synonymous SNV RYR1:NM_001042723:exon47:c.G7527A:p.V2509V,RYR1:NM_000540:exon47:c.G7527A:p.V2509V, chr19 38991543 38991543 G A het . 25 +line39110 synonymous SNV RYR1:NM_001042723:exon49:c.C7863T:p.H2621H,RYR1:NM_000540:exon49:c.C7863T:p.H2621H, chr19 38993547 38993547 C T het . 29 +line39113 synonymous SNV RYR1:NM_001042723:exon50:c.G7977A:p.T2659T,RYR1:NM_000540:exon50:c.G7977A:p.T2659T, chr19 38994910 38994910 G A het . 15 +line39116 synonymous SNV RYR1:NM_001042723:exon51:c.T8118C:p.I2706I,RYR1:NM_000540:exon51:c.T8118C:p.I2706I, chr19 38995438 38995438 T C het . 22 +line39117 synonymous SNV RYR1:NM_001042723:exon51:c.T8190C:p.D2730D,RYR1:NM_000540:exon51:c.T8190C:p.D2730D, chr19 38995510 38995510 T C het . 33 +line39118 synonymous SNV RYR1:NM_001042723:exon53:c.G8337A:p.E2779E,RYR1:NM_000540:exon53:c.G8337A:p.E2779E, chr19 38995975 38995975 G A het . 20 +line39120 synonymous SNV RYR1:NM_001042723:exon55:c.T8589C:p.S2863S,RYR1:NM_000540:exon55:c.T8589C:p.S2863S, chr19 38996990 38996990 T C het . 25 +line39133 synonymous SNV RYR1:NM_001042723:exon62:c.A9186G:p.P3062P,RYR1:NM_000540:exon62:c.A9186G:p.P3062P, chr19 39002725 39002725 A G het . 17 +line39134 synonymous SNV RYR1:NM_001042723:exon67:c.C10218T:p.Y3406Y,RYR1:NM_000540:exon67:c.C10218T:p.Y3406Y, chr19 39010053 39010053 C T het . 15 +line39152 synonymous SNV ACTN4:NM_004924:exon16:c.T1977C:p.N659N,ACTN4:NM_001322033:exon16:c.T1977C:p.N659N, chr19 39215172 39215172 T C het . 43 +line39155 synonymous SNV ACTN4:NM_004924:exon20:c.T2563C:p.L855L,ACTN4:NM_001322033:exon20:c.T2548C:p.L850L, chr19 39219780 39219780 T C het . 18 +line39156 synonymous SNV CAPN12:NM_144691:exon18:c.T1887C:p.F629F, chr19 39224413 39224413 A G het . 11 +line39160 synonymous SNV CAPN12:NM_144691:exon5:c.G672C:p.L224L, chr19 39230748 39230748 C G het . 8 +line39162 synonymous SNV CAPN12:NM_144691:exon3:c.T330C:p.A110A, chr19 39233146 39233146 A G het . 15 +line39170 synonymous SNV ECH1:NM_001398:exon4:c.G375A:p.S125S, chr19 39308190 39308190 C T het . 6 +line39176 nonsynonymous SNV RINL:NM_198445:exon9:c.C863T:p.P288L,RINL:NM_001195833:exon9:c.C1205T:p.P402L, chr19 39360720 39360720 G A het . 5 +line39178 synonymous SNV RINL:NM_001195833:exon4:c.G255A:p.L85L, chr19 39364584 39364584 C T het . 18 +line39181 nonsynonymous SNV RINL:NM_001195833:exon3:c.A70G:p.N24D, chr19 39367111 39367111 T C het . 4 +line39197 synonymous SNV ACP7:NM_001363687:exon3:c.C213T:p.P71P,ACP7:NM_001004318:exon3:c.C213T:p.P71P, chr19 39589189 39589189 C T het . 6 +line39199 synonymous SNV ACP7:NM_001004318:exon5:c.G594A:p.P198P, chr19 39590955 39590955 G A het . 12 +line39203 synonymous SNV PAK4:NM_001014834:exon8:c.G1203T:p.V401V,PAK4:NM_001014831:exon11:c.G1662T:p.V554V,PAK4:NM_005884:exon10:c.G1662T:p.V554V,PAK4:NM_001014835:exon9:c.G1203T:p.V401V,PAK4:NM_001014832:exon9:c.G1662T:p.V554V, chr19 39669105 39669105 G T het . 11 +line39216 nonsynonymous SNV IFNL2:NM_172138:exon4:c.A334G:p.T112A, chr19 39760191 39760191 A G het . 4 +line39222 nonsynonymous SNV PLEKHG2:NM_001351693:exon18:c.A1687G:p.I563V,PLEKHG2:NM_022835:exon18:c.A1864G:p.I622V, chr19 39913558 39913558 A G het . 11 +line39223 synonymous SNV PLEKHG2:NM_001351693:exon19:c.G2694A:p.K898K,PLEKHG2:NM_022835:exon19:c.G2871A:p.K957K, chr19 39914644 39914644 G A het . 17 +line39224 nonsynonymous SNV PLEKHG2:NM_001351693:exon19:c.G2798A:p.R933K,PLEKHG2:NM_022835:exon19:c.G2975A:p.R992K, chr19 39914748 39914748 G A het . 5 +line39225 synonymous SNV PLEKHG2:NM_022835:exon19:c.G3864A:p.Q1288Q, chr19 39915637 39915637 G A het . 6 +line39227 synonymous SNV RPS16:NM_001363860:exon1:c.T27G:p.S9S,RPS16:NM_001020:exon1:c.T27G:p.S9S,RPS16:NM_001321111:exon1:c.T27G:p.S9S, chr19 39926509 39926509 A C het . 11 +line39228 synonymous SNV RPS16:NM_001363860:exon1:c.C15T:p.G5G,RPS16:NM_001020:exon1:c.C15T:p.G5G,RPS16:NM_001321111:exon1:c.C15T:p.G5G, chr19 39926521 39926521 G A het . 9 +line39234 synonymous SNV SUPT5H:NM_003169:exon2:c.C162T:p.Y54Y,SUPT5H:NM_001319991:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001111020:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001319990:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001130825:exon3:c.C162T:p.Y54Y,SUPT5H:NM_001130824:exon3:c.C162T:p.Y54Y, chr19 39944082 39944082 C T het . 14 +line39240 synonymous SNV SUPT5H:NM_003169:exon10:c.G720A:p.E240E,SUPT5H:NM_001319991:exon10:c.G708A:p.E236E,SUPT5H:NM_001111020:exon11:c.G720A:p.E240E,SUPT5H:NM_001319990:exon11:c.G720A:p.E240E,SUPT5H:NM_001130825:exon10:c.G708A:p.E236E,SUPT5H:NM_001130824:exon11:c.G720A:p.E240E, chr19 39955533 39955533 G A het . 19 +line39245 nonsynonymous SNV SUPT5H:NM_003169:exon17:c.C1631T:p.P544L,SUPT5H:NM_001319991:exon17:c.C1619T:p.P540L,SUPT5H:NM_001111020:exon18:c.C1631T:p.P544L,SUPT5H:NM_001319990:exon18:c.C1631T:p.P544L,SUPT5H:NM_001130825:exon17:c.C1619T:p.P540L,SUPT5H:NM_001130824:exon18:c.C1631T:p.P544L, chr19 39961117 39961117 C T het . 4 +line39250 nonsynonymous SNV TIMM50:NM_001001563:exon1:c.G248C:p.S83T, chr19 39971432 39971432 G C het . 22 +line39256 nonsynonymous SNV DLL3:NM_016941:exon5:c.T653C:p.L218P,DLL3:NM_203486:exon5:c.T653C:p.L218P, chr19 39994711 39994711 T C het . 9 +line39258 unknown UNKNOWN chr19 40005876 40005876 A C het . 3 +line39259 synonymous SNV EID2B:NM_152361:exon1:c.T135C:p.A45A, chr19 40023308 40023308 A G het . 6 +line39262 synonymous SNV EID2:NM_153232:exon1:c.C66G:p.V22V, chr19 40030654 40030654 G C het . 10 +line39263 nonsynonymous SNV EID2:NM_153232:exon1:c.G16A:p.A6T, chr19 40030704 40030704 C T het . 9 +line39271 nonsynonymous SNV LGALS16:NM_001190441:exon3:c.T290A:p.L97H, chr19 40149297 40149297 T A het . 11 +line39273 nonsynonymous SNV LGALS14:NM_020129:exon3:c.T199C:p.C67R,LGALS14:NM_203471:exon4:c.T286C:p.C96R, chr19 40197924 40197924 T C het . 34 +line39274 nonsynonymous SNV LGALS14:NM_020129:exon4:c.C381G:p.F127L,LGALS14:NM_203471:exon5:c.C468G:p.F156L, chr19 40199914 40199914 C G het . 23 +line39278 synonymous SNV CLC:NM_001828:exon3:c.T240C:p.N80N, chr19 40224986 40224986 A G het . 24 +line39280 nonsynonymous SNV CLC:NM_001828:exon2:c.C83T:p.A28V, chr19 40225646 40225646 G A het . 15 +line39297 nonsynonymous SNV FCGBP:NM_003890:exon32:c.C15050T:p.A5017V, chr19 40363020 40363020 G A het . 8 +line39298 nonsynonymous SNV FCGBP:NM_003890:exon31:c.G14716C:p.D4906H, chr19 40363926 40363926 C G het . 12 +line39299 synonymous SNV FCGBP:NM_003890:exon30:c.C13872G:p.L4624L, chr19 40366362 40366362 G C het . 18 +line39301 synonymous SNV FCGBP:NM_003890:exon28:c.C12957T:p.D4319D, chr19 40368391 40368391 G A het . 13 +line39302 nonsynonymous SNV FCGBP:NM_003890:exon28:c.G12953A:p.R4318H, chr19 40368395 40368395 C T het . 11 +line39303 nonframeshift substitution FCGBP:NM_003890:exon28:c.12849_12850GG, chr19 40368498 40368499 AA CC het . 19 +line39304 synonymous SNV FCGBP:NM_003890:exon28:c.C12828G:p.G4276G, chr19 40368520 40368520 G C het . 13 +line39314 synonymous SNV MAP3K10:NM_002446:exon8:c.T1818C:p.F606F, chr19 40719076 40719076 T C het . 5 +line39316 synonymous SNV MAP3K10:NM_002446:exon9:c.C2493T:p.D831D, chr19 40720079 40720079 C T het . 3 +line39331 nonsynonymous SNV HIPK4:NM_144685:exon3:c.G905A:p.R302Q, chr19 40886993 40886993 C T het . 8 +line39332 nonsynonymous SNV HIPK4:NM_144685:exon1:c.G182T:p.C61F, chr19 40895628 40895628 C A het . 27 +line39333 nonsynonymous SNV PRX:NM_181882:exon7:c.G3394A:p.G1132R, chr19 40900865 40900865 C T het . 3 +line39334 nonsynonymous SNV PRX:NM_181882:exon7:c.C3248G:p.P1083R, chr19 40901011 40901011 G C het . 21 +line39335 synonymous SNV PRX:NM_181882:exon7:c.T2925G:p.A975A, chr19 40901334 40901334 A C het . 23 +line39336 nonsynonymous SNV PRX:NM_181882:exon7:c.A2763G:p.I921M, chr19 40901496 40901496 T C het . 53 +line39337 synonymous SNV PRX:NM_181882:exon7:c.T2655C:p.P885P, chr19 40901604 40901604 A G het . 37 +line39338 nonsynonymous SNV PRX:NM_181882:exon7:c.T2645C:p.V882A, chr19 40901614 40901614 A G het . 35 +line39342 nonsynonymous SNV SPTBN4:NM_020971:exon2:c.G112A:p.A38T, chr19 40978640 40978640 G A het . 14 +line39345 synonymous SNV SPTBN4:NM_020971:exon9:c.A912G:p.V304V, chr19 41008049 41008049 A G het . 8 +line39346 synonymous SNV SPTBN4:NM_020971:exon13:c.C1713T:p.D571D, chr19 41012190 41012190 C T het . 12 +line39349 nonsynonymous SNV SPTBN4:NM_025213:exon2:c.G19A:p.G7S,SPTBN4:NM_020971:exon19:c.G3991A:p.G1331S, chr19 41038574 41038574 G A het . 8 +line39352 unknown UNKNOWN chr19 41111069 41111069 G A het . 9 +line39353 unknown UNKNOWN chr19 41111393 41111393 C A het . 11 +line39354 unknown UNKNOWN chr19 41123093 41123093 - G het . 14 +line39359 synonymous SNV NUMBL:NM_004756:exon10:c.G1323A:p.Q441Q,NUMBL:NM_001289980:exon9:c.G1200A:p.Q400Q,NUMBL:NM_001289979:exon9:c.G1200A:p.Q400Q, chr19 41173880 41173880 C T het . 30 +line39360 nonframeshift deletion NUMBL:NM_004756:exon10:c.1305_1310del:p.435_437del,NUMBL:NM_001289980:exon9:c.1182_1187del:p.394_396del,NUMBL:NM_001289979:exon9:c.1182_1187del:p.394_396del, chr19 41173893 41173898 TGCTGT - het . 35 +line39363 nonsynonymous SNV COQ8B:NM_024876:exon7:c.A521G:p.H174R,COQ8B:NM_001142555:exon6:c.A398G:p.H133R, chr19 41211056 41211056 T C het . 16 +line39367 nonsynonymous SNV C19orf54:NM_001353809:exon1:c.G209C:p.R70P,C19orf54:NM_198476:exon1:c.G209C:p.R70P,C19orf54:NM_001353806:exon1:c.G209C:p.R70P, chr19 41255500 41255500 C G het . 14 +line39374 nonsynonymous SNV CYP2A6:NM_000762:exon8:c.T1175A:p.F392Y, chr19 41350664 41350664 A T het . 12 +line39377 nonsynonymous SNV CYP2A6:NM_000762:exon1:c.G86A:p.S29N, chr19 41356246 41356246 C T het . 11 +line39378 synonymous SNV CYP2A6:NM_000762:exon1:c.A51G:p.V17V, chr19 41356281 41356281 T C het . 18 +line39379 nonsynonymous SNV CYP2A7:NM_000764:exon7:c.T1103C:p.M368T,CYP2A7:NM_030589:exon6:c.T950C:p.M317T, chr19 41383153 41383153 A G het . 20 +line39381 nonsynonymous SNV CYP2A7:NM_000764:exon6:c.C931T:p.R311C,CYP2A7:NM_030589:exon5:c.C778T:p.R260C, chr19 41383799 41383799 G A het . 8 +line39382 nonsynonymous SNV CYP2A7:NM_000764:exon4:c.T507G:p.D169E,CYP2A7:NM_030589:exon3:c.T354G:p.D118E, chr19 41386136 41386136 A C het . 8 +line39383 nonsynonymous SNV CYP2A7:NM_000764:exon3:c.T457G:p.S153A,CYP2A7:NM_030589:exon2:c.T304G:p.S102A, chr19 41386420 41386420 A C het . 13 +line39406 nonsynonymous SNV CYP2A13:NM_000766:exon7:c.A1135C:p.K379Q, chr19 41600311 41600311 A C het . 14 +line39420 synonymous SNV CYP2S1:NM_030622:exon2:c.G222C:p.P74P, chr19 41700493 41700493 G C het . 3 +line39427 nonsynonymous SNV AXL:NM_021913:exon7:c.A796G:p.N266D,AXL:NM_001699:exon7:c.A796G:p.N266D, chr19 41743861 41743861 A G het . 4 +line39431 synonymous SNV HNRNPUL1:NM_001301016:exon14:c.T2145C:p.T715T,HNRNPUL1:NM_007040:exon14:c.T2412C:p.T804T,HNRNPUL1:NM_144732:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_001321211:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_001321208:exon14:c.T2112C:p.T704T, chr19 41811730 41811730 T C het . 3 +line39434 nonsynonymous SNV TGFB1:NM_000660:exon1:c.C29T:p.P10L, chr19 41858921 41858921 G A het . 10 +line39436 nonsynonymous SNV B9D2:NM_030578:exon2:c.A33G:p.I11M, chr19 41869392 41869392 T C het . 25 +line39439 synonymous SNV TMEM91:NM_001098821:exon4:c.T489C:p.A163A, chr19 41889748 41889748 T C het . 6 +line39440 nonsynonymous SNV EXOSC5:NM_020158:exon1:c.C14T:p.T5M, chr19 41903220 41903220 G A het . 22 +line39445 synonymous SNV BCKDHA:NM_001164783:exon7:c.C969T:p.F323F,BCKDHA:NM_000709:exon7:c.C972T:p.F324F, chr19 41928652 41928652 C T het . 13 +line39449 synonymous SNV BCKDHA:NM_001164783:exon9:c.A1218G:p.L406L,BCKDHA:NM_000709:exon9:c.A1221G:p.L407L, chr19 41930396 41930396 A G het . 16 +line39450 synonymous SNV B3GNT8:NM_198540:exon3:c.C600A:p.A200A, chr19 41932084 41932084 G T het . 13 +line39451 synonymous SNV B3GNT8:NM_198540:exon3:c.G564A:p.V188V, chr19 41932120 41932120 C T het . 10 +line39452 nonsynonymous SNV B3GNT8:NM_198540:exon3:c.A409G:p.S137G, chr19 41932275 41932275 T C het . 16 +line39453 synonymous SNV B3GNT8:NM_198540:exon3:c.G72A:p.E24E, chr19 41932612 41932612 C T het . 16 +line39455 nonsynonymous SNV DMAC2:NM_018035:exon5:c.G476C:p.C159S,DMAC2:NM_001320839:exon4:c.G413C:p.C138S,DMAC2:NM_001167867:exon5:c.G494C:p.C165S,DMAC2:NM_001167871:exon4:c.G395C:p.C132S,DMAC2:NM_001320844:exon4:c.G395C:p.C132S,DMAC2:NM_001320840:exon4:c.G413C:p.C138S, chr19 41939297 41939297 C G het . 12 +line39456 nonsynonymous SNV DMAC2:NM_001320841:exon2:c.A119G:p.N40S,DMAC2:NM_018035:exon2:c.A101G:p.N34S,DMAC2:NM_001167868:exon2:c.A119G:p.N40S,DMAC2:NM_001167869:exon2:c.A101G:p.N34S,DMAC2:NM_001320839:exon2:c.A119G:p.N40S,DMAC2:NM_001167867:exon2:c.A119G:p.N40S,DMAC2:NM_001167870:exon2:c.A101G:p.N34S,DMAC2:NM_001167871:exon2:c.A101G:p.N34S,DMAC2:NM_001320838:exon2:c.A101G:p.N34S,DMAC2:NM_001320844:exon2:c.A101G:p.N34S,DMAC2:NM_001320840:exon2:c.A119G:p.N40S, chr19 41944237 41944237 T C het . 27 +line39469 synonymous SNV CEACAM5:NM_001308398:exon2:c.G147A:p.K49K,CEACAM5:NM_004363:exon2:c.G147A:p.K49K,CEACAM5:NM_001291484:exon2:c.G147A:p.K49K, chr19 42213681 42213681 G A het . 12 +line39470 nonsynonymous SNV CEACAM5:NM_001308398:exon5:c.A1189G:p.K397E,CEACAM5:NM_004363:exon5:c.A1192G:p.K398E,CEACAM5:NM_001291484:exon5:c.A1192G:p.K398E, chr19 42221607 42221607 A G het . 3 +line39472 nonsynonymous SNV CEACAM5:NM_001308398:exon9:c.G2029A:p.G677R,CEACAM5:NM_004363:exon9:c.G2032A:p.G678R,CEACAM5:NM_001291484:exon9:c.G2032A:p.G678R, chr19 42231159 42231159 G A het . 18 +line39474 synonymous SNV CEACAM6:NM_002483:exon2:c.G126A:p.P42P, chr19 42260569 42260569 G A het . 6 +line39484 synonymous SNV DMRTC2:NM_001040283:exon8:c.T852C:p.G284G, chr19 42354629 42354629 T C het . 11 +line39495 nonsynonymous SNV ARHGEF1:NM_199002:exon18:c.C1742A:p.T581N,ARHGEF1:NM_198977:exon17:c.C1598A:p.T533N,ARHGEF1:NM_004706:exon18:c.C1697A:p.T566N, chr19 42407007 42407007 C A het . 12 +line39497 nonsynonymous SNV RABAC1:NM_006423:exon2:c.A136G:p.S46G, chr19 42463021 42463021 T C het . 15 +line39502 synonymous SNV ATP1A3:NM_001256214:exon7:c.T705G:p.T235T,ATP1A3:NM_152296:exon7:c.T666G:p.T222T,ATP1A3:NM_001256213:exon7:c.T699G:p.T233T, chr19 42489516 42489516 A C het . 31 +line39503 synonymous SNV GSK3A:NM_019884:exon10:c.T1320C:p.L440L, chr19 42736267 42736267 A G het . 6 +line39506 synonymous SNV CIC:NM_001304815:exon11:c.A4254C:p.P1418P,CIC:NM_015125:exon10:c.A1527C:p.P509P, chr19 42794447 42794447 A C het . 13 +line39507 nonsynonymous SNV CIC:NM_001304815:exon11:c.A4259C:p.D1420A,CIC:NM_015125:exon10:c.A1532C:p.D511A, chr19 42794452 42794452 A C het . 13 +line39508 nonsynonymous SNV CIC:NM_001304815:exon11:c.A4265C:p.E1422A,CIC:NM_015125:exon10:c.A1538C:p.E513A, chr19 42794458 42794458 A C het . 12 +line39509 synonymous SNV CIC:NM_001304815:exon21:c.C7260T:p.I2420I,CIC:NM_015125:exon20:c.C4533T:p.I1511I, chr19 42799049 42799049 C T het . 17 +line39515 synonymous SNV CEACAM1:NM_001712:exon9:c.T1479C:p.Y493Y,CEACAM1:NM_001184813:exon8:c.T1191C:p.Y397Y,CEACAM1:NM_001184815:exon9:c.T1284C:p.Y428Y, chr19 43013363 43013363 A G het . 8 +line39519 nonsynonymous SNV CEACAM8:NM_001816:exon5:c.T964G:p.L322V, chr19 43087484 43087484 A C het . 15 +line39523 nonsynonymous SNV PSG3:NM_021016:exon5:c.G1214T:p.S405I, chr19 43233304 43233304 C A het . 7 +line39526 nonsynonymous SNV PSG8:NM_001130168:exon3:c.A578C:p.Q193P,PSG8:NM_001130167:exon4:c.A944C:p.Q315P,PSG8:NM_182707:exon4:c.A944C:p.Q315P, chr19 43259184 43259184 T G het . 9 +line39527 synonymous SNV PSG8:NM_001130167:exon2:c.T429C:p.Y143Y,PSG8:NM_182707:exon2:c.T429C:p.Y143Y, chr19 43268069 43268069 A G het . 8 +line39528 frameshift deletion PSG8:NM_001130167:exon2:c.357delC:p.S119fs,PSG8:NM_182707:exon2:c.357delC:p.S119fs, chr19 43268141 43268141 G - het . 21 +line39529 synonymous SNV PSG8:NM_001130167:exon2:c.A282C:p.A94A,PSG8:NM_182707:exon2:c.A282C:p.A94A, chr19 43268216 43268216 T G het . 8 +line39530 nonsynonymous SNV PSG8:NM_001130168:exon1:c.C29T:p.T10I,PSG8:NM_001130167:exon1:c.C29T:p.T10I,PSG8:NM_182707:exon1:c.C29T:p.T10I, chr19 43269705 43269705 G A het . 1 +line39533 unknown UNKNOWN chr19 43439793 43439793 G A het . 10 +line39540 synonymous SNV PSG11:NM_203287:exon3:c.G504A:p.Q168Q,PSG11:NM_001113410:exon3:c.G504A:p.Q168Q,PSG11:NM_002785:exon4:c.G870A:p.Q290Q, chr19 43519362 43519362 C T het . 21 +line39541 nonsynonymous SNV PSG11:NM_203287:exon3:c.A424G:p.N142D,PSG11:NM_001113410:exon3:c.A424G:p.N142D,PSG11:NM_002785:exon4:c.A790G:p.N264D, chr19 43519442 43519442 T C het . 19 +line39543 nonframeshift substitution PSG11:NM_002785:exon2:c.246_247CA, chr19 43529026 43529027 CA TG het . 12 +line39551 nonsynonymous SNV PSG5:NM_002781:exon3:c.G680A:p.R227H,PSG5:NM_001130014:exon3:c.G680A:p.R227H, chr19 43680051 43680051 C T het . 3 +line39552 nonsynonymous SNV PSG5:NM_002781:exon3:c.C462G:p.N154K,PSG5:NM_001130014:exon3:c.C462G:p.N154K, chr19 43680269 43680269 G C het . 4 +line39560 nonsynonymous SNV PSG4:NM_001316339:exon3:c.T352C:p.S118P,PSG4:NM_001276495:exon3:c.T439C:p.S147P,PSG4:NM_002780:exon4:c.T718C:p.S240P, chr19 43699417 43699417 A G het . 10 +line39561 synonymous SNV PSG4:NM_001316339:exon2:c.G150A:p.A50A,PSG4:NM_002780:exon3:c.G516A:p.A172A,PSG4:NM_213633:exon3:c.G516A:p.A172A, chr19 43702342 43702342 C T het . 20 +line39562 nonsynonymous SNV PSG4:NM_001276495:exon2:c.C223G:p.L75V,PSG4:NM_002780:exon2:c.C223G:p.L75V,PSG4:NM_213633:exon2:c.C223G:p.L75V, chr19 43708245 43708245 G C het . 27 +line39584 synonymous SNV PHLDB3:NM_198850:exon16:c.C1896A:p.T632T, chr19 43979589 43979589 G T het . 14 +line39591 synonymous SNV ETHE1:NM_001320869:exon1:c.G6A:p.A2A,ETHE1:NM_014297:exon1:c.G6A:p.A2A,ETHE1:NM_001320867:exon1:c.G6A:p.A2A, chr19 44031324 44031324 C T het . 5 +line39592 nonsynonymous SNV XRCC1:NM_006297:exon16:c.A1726T:p.N576Y, chr19 44047826 44047826 T A het . 5 +line39594 nonsynonymous SNV XRCC1:NM_006297:exon10:c.A1196G:p.Q399R, chr19 44055726 44055726 T C het . 2 +line39596 synonymous SNV XRCC1:NM_006297:exon7:c.A618G:p.P206P, chr19 44057227 44057227 T C het . 11 +line39597 nonsynonymous SNV SRRM5:NM_001145641:exon1:c.A683G:p.K228R, chr19 44116956 44116956 A G het . 14 +line39598 nonsynonymous SNV SRRM5:NM_001145641:exon1:c.G1918A:p.D640N, chr19 44118191 44118191 G A het . 28 +line39600 nonsynonymous SNV PLAUR:NM_001005377:exon6:c.T815C:p.L272P,PLAUR:NM_002659:exon7:c.T950C:p.L317P,PLAUR:NM_001301037:exon6:c.T803C:p.L268P, chr19 44153100 44153100 A G het . 4 +line39610 synonymous SNV IRGC:NM_019612:exon2:c.C415T:p.L139L, chr19 44223125 44223125 C T het . 6 +line39611 synonymous SNV IRGC:NM_019612:exon2:c.C435T:p.C145C, chr19 44223145 44223145 C T het . 9 +line39612 synonymous SNV IRGC:NM_019612:exon2:c.C702T:p.H234H, chr19 44223412 44223412 C T het . 5 +line39622 nonsynonymous SNV LYPD5:NM_001288763:exon3:c.A371G:p.N124S,LYPD5:NM_001031749:exon4:c.A500G:p.N167S,LYPD5:NM_182573:exon4:c.A371G:p.N124S, chr19 44302624 44302624 T C het . 7 +line39623 nonsynonymous SNV LYPD5:NM_001288763:exon2:c.G139C:p.A47P,LYPD5:NM_001031749:exon3:c.G268C:p.A90P,LYPD5:NM_182573:exon3:c.G139C:p.A47P, chr19 44303066 44303066 C G het . 15 +line39625 synonymous SNV LYPD5:NM_001031749:exon1:c.G51A:p.A17A, chr19 44306482 44306482 C T het . 21 +line39631 synonymous SNV ZNF283:NM_181845:exon7:c.G354A:p.T118T, chr19 44351107 44351107 G A het . 15 +line39632 frameshift deletion ZNF283:NM_001297752:wholegene, chr19 44351167 44351172 GGAGAT - het . 19 +line39633 nonsynonymous SNV ZNF283:NM_181845:exon7:c.C941T:p.T314I,ZNF283:NM_001297752:exon6:c.C524T:p.T175I, chr19 44351694 44351694 C T het . 28 +line39634 synonymous SNV ZNF283:NM_181845:exon7:c.G1083A:p.Q361Q,ZNF283:NM_001297752:exon6:c.G666A:p.Q222Q, chr19 44351836 44351836 G A het . 31 +line39635 synonymous SNV ZNF283:NM_181845:exon7:c.T1569G:p.A523A,ZNF283:NM_001297752:exon6:c.T1152G:p.A384A, chr19 44352322 44352322 T G het . 25 +line39636 nonsynonymous SNV ZNF283:NM_181845:exon7:c.A1574C:p.N525T,ZNF283:NM_001297752:exon6:c.A1157C:p.N386T, chr19 44352327 44352327 A C het . 25 +line39637 nonsynonymous SNV ZNF283:NM_181845:exon7:c.G1886A:p.R629H,ZNF283:NM_001297752:exon6:c.G1469A:p.R490H, chr19 44352639 44352639 G A het . 26 +line39638 nonframeshift substitution ZNF283:NM_181845:exon7:c.1912_1913CA,ZNF283:NM_001297752:exon6:c.1495_1496CA, chr19 44352665 44352666 TG CA het . 27 +line39639 synonymous SNV ZNF283:NM_181845:exon7:c.G1935A:p.E645E,ZNF283:NM_001297752:exon6:c.G1518A:p.E506E, chr19 44352688 44352688 G A het . 25 +line39643 nonsynonymous SNV ZNF404:NM_001033719:exon2:c.G1000A:p.G334S, chr19 44377357 44377357 C T het . 28 +line39644 nonsynonymous SNV ZNF404:NM_001033719:exon2:c.C743T:p.T248M, chr19 44377614 44377614 G A het . 23 +line39645 nonsynonymous SNV ZNF404:NM_001033719:exon2:c.C688T:p.H230Y, chr19 44377669 44377669 G A het . 16 +line39648 nonsynonymous SNV ZNF45:NM_003425:exon10:c.G1511A:p.R504K, chr19 44418077 44418077 C T het . 10 +line39649 synonymous SNV ZNF45:NM_003425:exon10:c.G1245A:p.P415P, chr19 44418343 44418343 C T het . 20 +line39650 synonymous SNV ZNF45:NM_003425:exon10:c.T1044C:p.N348N, chr19 44418544 44418544 A G het . 11 +line39651 nonsynonymous SNV ZNF45:NM_003425:exon10:c.C908G:p.P303R, chr19 44418680 44418680 G C het . 13 +line39652 nonsynonymous SNV ZNF45:NM_003425:exon10:c.A895G:p.T299A, chr19 44418693 44418693 T C het . 13 +line39653 nonsynonymous SNV ZNF45:NM_003425:exon10:c.G764A:p.R255K, chr19 44418824 44418824 C T het . 18 +line39654 synonymous SNV ZNF45:NM_003425:exon10:c.T558C:p.H186H, chr19 44419030 44419030 A G het . 23 +line39667 nonsynonymous SNV ZNF221:NM_001297589:exon5:c.G493A:p.V165M,ZNF221:NM_001297588:exon5:c.G493A:p.V165M,ZNF221:NM_013359:exon6:c.G493A:p.V165M, chr19 44470147 44470147 G A het . 19 +line39668 nonsynonymous SNV ZNF221:NM_001297589:exon5:c.T535A:p.F179I,ZNF221:NM_001297588:exon5:c.T535A:p.F179I,ZNF221:NM_013359:exon6:c.T535A:p.F179I, chr19 44470189 44470189 T A het . 28 +line39669 nonsynonymous SNV ZNF221:NM_001297589:exon5:c.T766C:p.C256R,ZNF221:NM_001297588:exon5:c.T766C:p.C256R,ZNF221:NM_013359:exon6:c.T766C:p.C256R, chr19 44470420 44470420 T C het . 26 +line39670 synonymous SNV ZNF221:NM_001297589:exon5:c.A894G:p.Q298Q,ZNF221:NM_001297588:exon5:c.A894G:p.Q298Q,ZNF221:NM_013359:exon6:c.A894G:p.Q298Q, chr19 44470548 44470548 A G het . 15 +line39671 nonsynonymous SNV ZNF221:NM_001297589:exon5:c.G1009C:p.A337P,ZNF221:NM_001297588:exon5:c.G1009C:p.A337P,ZNF221:NM_013359:exon6:c.G1009C:p.A337P, chr19 44470663 44470663 G C het . 29 +line39672 nonsynonymous SNV ZNF221:NM_001297589:exon5:c.T1555A:p.S519T,ZNF221:NM_001297588:exon5:c.T1555A:p.S519T,ZNF221:NM_013359:exon6:c.T1555A:p.S519T, chr19 44471209 44471209 T A het . 36 +line39673 nonsynonymous SNV ZNF221:NM_001297589:exon5:c.G1669A:p.G557R,ZNF221:NM_001297588:exon5:c.G1669A:p.G557R,ZNF221:NM_013359:exon6:c.G1669A:p.G557R, chr19 44471323 44471323 G A het . 14 +line39676 nonsynonymous SNV ZNF155:NM_001260487:exon5:c.A469T:p.I157F,ZNF155:NM_003445:exon5:c.A469T:p.I157F,ZNF155:NM_001260486:exon5:c.A469T:p.I157F,ZNF155:NM_198089:exon5:c.A469T:p.I157F,ZNF155:NM_001260488:exon6:c.A502T:p.I168F, chr19 44500478 44500478 A T het . 12 +line39677 nonsynonymous SNV ZNF155:NM_001260487:exon5:c.G752A:p.R251H,ZNF155:NM_003445:exon5:c.G752A:p.R251H,ZNF155:NM_001260486:exon5:c.G752A:p.R251H,ZNF155:NM_198089:exon5:c.G752A:p.R251H,ZNF155:NM_001260488:exon6:c.G785A:p.R262H, chr19 44500761 44500761 G A het . 18 +line39678 synonymous SNV ZNF155:NM_001260487:exon5:c.A1107G:p.E369E,ZNF155:NM_003445:exon5:c.A1107G:p.E369E,ZNF155:NM_001260486:exon5:c.A1107G:p.E369E,ZNF155:NM_198089:exon5:c.A1107G:p.E369E,ZNF155:NM_001260488:exon6:c.A1140G:p.E380E, chr19 44501116 44501116 A G het . 4 +line39679 synonymous SNV ZNF155:NM_001260487:exon5:c.A1218G:p.G406G,ZNF155:NM_003445:exon5:c.A1218G:p.G406G,ZNF155:NM_001260486:exon5:c.A1218G:p.G406G,ZNF155:NM_198089:exon5:c.A1218G:p.G406G,ZNF155:NM_001260488:exon6:c.A1251G:p.G417G, chr19 44501227 44501227 A G het . 24 +line39680 synonymous SNV ZNF155:NM_001260487:exon5:c.G1509A:p.P503P,ZNF155:NM_003445:exon5:c.G1509A:p.P503P,ZNF155:NM_001260486:exon5:c.G1509A:p.P503P,ZNF155:NM_198089:exon5:c.G1509A:p.P503P,ZNF155:NM_001260488:exon6:c.G1542A:p.P514P, chr19 44501518 44501518 G A het . 16 +line39688 synonymous SNV ZNF230:NM_006300:exon5:c.T1161G:p.T387T, chr19 44515352 44515352 T G het . 16 +line39689 nonsynonymous SNV ZNF230:NM_006300:exon5:c.C1323A:p.D441E, chr19 44515514 44515514 C A het . 29 +line39692 nonsynonymous SNV ZNF222:NM_013360:exon4:c.G172T:p.V58F,ZNF222:NM_001129996:exon4:c.G292T:p.V98F, chr19 44535999 44535999 G T het . 16 +line39694 synonymous SNV ZNF223:NM_013361:exon4:c.G222A:p.R74R, chr19 44564981 44564981 G A het . 18 +line39696 nonsynonymous SNV ZNF223:NM_013361:exon5:c.C412A:p.L138I, chr19 44570393 44570393 C A het . 21 +line39697 synonymous SNV ZNF223:NM_013361:exon5:c.G570A:p.A190A, chr19 44570551 44570551 G A het . 31 +line39698 synonymous SNV ZNF223:NM_013361:exon5:c.T1173C:p.H391H, chr19 44571154 44571154 T C het . 20 +line39703 nonframeshift deletion ZNF284:NM_001037813:exon5:c.369_371del:p.123_124del, chr19 44590000 44590002 CTC - het . 20 +line39704 synonymous SNV ZNF284:NM_001037813:exon5:c.C927T:p.H309H, chr19 44590558 44590558 C T het . 19 +line39705 nonsynonymous SNV ZNF284:NM_001037813:exon5:c.G1729A:p.E577K, chr19 44591360 44591360 G A het . 7 +line39709 nonsynonymous SNV ZNF224:NM_013398:exon5:c.A181G:p.R61G,ZNF224:NM_001321645:exon5:c.A181G:p.R61G, chr19 44605324 44605324 A G het . 23 +line39710 nonsynonymous SNV ZNF224:NM_013398:exon6:c.A352G:p.M118V,ZNF224:NM_001321645:exon6:c.A352G:p.M118V, chr19 44610665 44610665 A G het . 15 +line39711 nonsynonymous SNV ZNF224:NM_013398:exon6:c.A485T:p.H162L,ZNF224:NM_001321645:exon6:c.A485T:p.H162L, chr19 44610798 44610798 A T het . 9 +line39712 synonymous SNV ZNF224:NM_013398:exon6:c.T753C:p.H251H,ZNF224:NM_001321645:exon6:c.T753C:p.H251H, chr19 44611066 44611066 T C het . 8 +line39713 synonymous SNV ZNF224:NM_013398:exon6:c.A1107G:p.E369E,ZNF224:NM_001321645:exon6:c.A1107G:p.E369E, chr19 44611420 44611420 A G het . 3 +line39714 synonymous SNV ZNF224:NM_013398:exon6:c.A1692G:p.G564G,ZNF224:NM_001321645:exon6:c.A1692G:p.G564G, chr19 44612005 44612005 A G het . 12 +line39715 synonymous SNV ZNF224:NM_013398:exon6:c.A1701T:p.P567P,ZNF224:NM_001321645:exon6:c.A1701T:p.P567P, chr19 44612014 44612014 A T het . 11 +line39716 nonsynonymous SNV ZNF224:NM_013398:exon6:c.A1918G:p.K640E,ZNF224:NM_001321645:exon6:c.A1918G:p.K640E, chr19 44612231 44612231 A G het . 14 +line39720 nonsynonymous SNV ZNF234:NM_001144824:exon6:c.G622A:p.V208M,ZNF234:NM_006630:exon6:c.G622A:p.V208M, chr19 44660791 44660791 G A het . 36 +line39721 nonsynonymous SNV ZNF234:NM_001144824:exon6:c.C1387A:p.Q463K,ZNF234:NM_006630:exon6:c.C1387A:p.Q463K, chr19 44661556 44661556 C A het . 26 +line39722 nonsynonymous SNV ZNF234:NM_001144824:exon6:c.C1783A:p.P595T,ZNF234:NM_006630:exon6:c.C1783A:p.P595T, chr19 44661952 44661952 C A het . 23 +line39727 nonsynonymous SNV ZNF226:NM_001032373:exon6:c.C304A:p.Q102K,ZNF226:NM_016444:exon7:c.C304A:p.Q102K,ZNF226:NM_001319088:exon6:c.C304A:p.Q102K,ZNF226:NM_001319089:exon7:c.C304A:p.Q102K,ZNF226:NM_001319090:exon6:c.C304A:p.Q102K,ZNF226:NM_001032372:exon6:c.C304A:p.Q102K, chr19 44679719 44679719 C A het . 12 +line39728 nonsynonymous SNV ZNF226:NM_001032373:exon6:c.C2329T:p.H777Y,ZNF226:NM_016444:exon7:c.C2329T:p.H777Y,ZNF226:NM_001319088:exon6:c.C2329T:p.H777Y,ZNF226:NM_001319089:exon7:c.C2329T:p.H777Y,ZNF226:NM_001319090:exon6:c.C2329T:p.H777Y,ZNF226:NM_001032372:exon6:c.C2329T:p.H777Y, chr19 44681744 44681744 C T het . 25 +line39733 synonymous SNV ZNF227:NM_001289173:exon5:c.T636C:p.N212N,ZNF227:NM_001289166:exon6:c.T720C:p.N240N,ZNF227:NM_001289168:exon5:c.T567C:p.N189N,ZNF227:NM_001289171:exon4:c.T483C:p.N161N,ZNF227:NM_001289170:exon4:c.T483C:p.N161N,ZNF227:NM_001289167:exon6:c.T567C:p.N189N,ZNF227:NM_001289169:exon5:c.T567C:p.N189N,ZNF227:NM_001289172:exon4:c.T429C:p.N143N,ZNF227:NM_182490:exon6:c.T720C:p.N240N, chr19 44739303 44739303 T C het . 21 +line39734 synonymous SNV ZNF227:NM_001289173:exon5:c.T732C:p.H244H,ZNF227:NM_001289166:exon6:c.T816C:p.H272H,ZNF227:NM_001289168:exon5:c.T663C:p.H221H,ZNF227:NM_001289171:exon4:c.T579C:p.H193H,ZNF227:NM_001289170:exon4:c.T579C:p.H193H,ZNF227:NM_001289167:exon6:c.T663C:p.H221H,ZNF227:NM_001289169:exon5:c.T663C:p.H221H,ZNF227:NM_001289172:exon4:c.T525C:p.H175H,ZNF227:NM_182490:exon6:c.T816C:p.H272H, chr19 44739399 44739399 T C het . 11 +line39739 nonsynonymous SNV ZNF233:NM_181756:exon5:c.A1592C:p.K531T,ZNF233:NM_001207005:exon5:c.A1592C:p.K531T, chr19 44778405 44778405 A C het . 23 +line39740 nonsynonymous SNV ZNF235:NM_004234:exon5:c.A887C:p.H296P, chr19 44792701 44792701 T G het . 10 +line39741 synonymous SNV ZNF235:NM_004234:exon5:c.C619T:p.L207L, chr19 44792969 44792969 G A het . 18 +line39747 synonymous SNV ZNF112:NM_001348282:exon4:c.A1626C:p.T542T,ZNF112:NM_001348284:exon3:c.A1443C:p.T481T,ZNF112:NM_001348281:exon5:c.A1695C:p.T565T,ZNF112:NM_013380:exon4:c.A1626C:p.T542T,ZNF112:NM_001083335:exon5:c.A1644C:p.T548T,ZNF112:NM_001348283:exon4:c.A1626C:p.T542T,ZNF112:NM_001348285:exon5:c.A1443C:p.T481T, chr19 44832684 44832684 T G het . 34 +line39748 nonsynonymous SNV ZNF112:NM_001348282:exon4:c.T1435C:p.Y479H,ZNF112:NM_001348284:exon3:c.T1252C:p.Y418H,ZNF112:NM_001348281:exon5:c.T1504C:p.Y502H,ZNF112:NM_013380:exon4:c.T1435C:p.Y479H,ZNF112:NM_001083335:exon5:c.T1453C:p.Y485H,ZNF112:NM_001348283:exon4:c.T1435C:p.Y479H,ZNF112:NM_001348285:exon5:c.T1252C:p.Y418H, chr19 44832875 44832875 A G het . 21 +line39749 nonsynonymous SNV ZNF112:NM_001348282:exon4:c.G1318C:p.E440Q,ZNF112:NM_001348284:exon3:c.G1135C:p.E379Q,ZNF112:NM_001348281:exon5:c.G1387C:p.E463Q,ZNF112:NM_013380:exon4:c.G1318C:p.E440Q,ZNF112:NM_001083335:exon5:c.G1336C:p.E446Q,ZNF112:NM_001348283:exon4:c.G1318C:p.E440Q,ZNF112:NM_001348285:exon5:c.G1135C:p.E379Q, chr19 44832992 44832992 C G het . 13 +line39750 synonymous SNV ZNF112:NM_001348282:exon4:c.G804A:p.E268E,ZNF112:NM_001348284:exon3:c.G621A:p.E207E,ZNF112:NM_001348281:exon5:c.G873A:p.E291E,ZNF112:NM_013380:exon4:c.G804A:p.E268E,ZNF112:NM_001083335:exon5:c.G822A:p.E274E,ZNF112:NM_001348283:exon4:c.G804A:p.E268E,ZNF112:NM_001348285:exon5:c.G621A:p.E207E, chr19 44833506 44833506 C T het . 14 +line39751 nonsynonymous SNV ZNF112:NM_001348282:exon4:c.C459G:p.F153L,ZNF112:NM_001348284:exon3:c.C276G:p.F92L,ZNF112:NM_001348281:exon5:c.C528G:p.F176L,ZNF112:NM_013380:exon4:c.C459G:p.F153L,ZNF112:NM_001083335:exon5:c.C477G:p.F159L,ZNF112:NM_001348283:exon4:c.C459G:p.F153L,ZNF112:NM_001348285:exon5:c.C276G:p.F92L, chr19 44833851 44833851 G C het . 33 +line39753 synonymous SNV ZNF112:NM_001348282:exon3:c.A207G:p.R69R,ZNF112:NM_001348284:exon2:c.A24G:p.R8R,ZNF112:NM_001348281:exon4:c.A276G:p.R92R,ZNF112:NM_013380:exon3:c.A207G:p.R69R,ZNF112:NM_001083335:exon4:c.A225G:p.R75R,ZNF112:NM_001348283:exon3:c.A207G:p.R69R,ZNF112:NM_001348285:exon4:c.A24G:p.R8R, chr19 44840789 44840789 T C het . 19 +line39760 synonymous SNV ZNF285:NM_001291491:exon3:c.T1245C:p.H415H,ZNF285:NM_001291490:exon5:c.T1245C:p.H415H,ZNF285:NM_001291488:exon5:c.T1731C:p.H577H,ZNF285:NM_152354:exon4:c.T1710C:p.H570H,ZNF285:NM_001291489:exon4:c.T1710C:p.H570H, chr19 44890697 44890697 A G het . 3 +line39761 nonsynonymous SNV ZNF285:NM_001291491:exon3:c.A1141G:p.R381G,ZNF285:NM_001291490:exon5:c.A1141G:p.R381G,ZNF285:NM_001291488:exon5:c.A1627G:p.R543G,ZNF285:NM_152354:exon4:c.A1606G:p.R536G,ZNF285:NM_001291489:exon4:c.A1606G:p.R536G, chr19 44890801 44890801 T C het . 18 +line39762 nonsynonymous SNV ZNF285:NM_001291491:exon3:c.A158G:p.N53S,ZNF285:NM_001291490:exon5:c.A158G:p.N53S,ZNF285:NM_001291488:exon5:c.A644G:p.N215S,ZNF285:NM_152354:exon4:c.A623G:p.N208S,ZNF285:NM_001291489:exon4:c.A623G:p.N208S, chr19 44891784 44891784 T C het . 20 +line39774 frameshift insertion ZNF229:NM_001278510:exon6:c.2027dupA:p.K676fs,ZNF229:NM_014518:exon6:c.2045dupA:p.K682fs, chr19 44932910 44932910 - T het . 13 +line39775 nonsynonymous SNV ZNF229:NM_001278510:exon6:c.G1966A:p.G656R,ZNF229:NM_014518:exon6:c.G1984A:p.G662R, chr19 44932972 44932972 C T het . 11 +line39776 nonsynonymous SNV ZNF229:NM_001278510:exon6:c.C991T:p.R331C,ZNF229:NM_014518:exon6:c.C1009T:p.R337C, chr19 44933947 44933947 G A het . 12 +line39777 nonsynonymous SNV ZNF229:NM_001278510:exon6:c.C449T:p.S150F,ZNF229:NM_014518:exon6:c.C467T:p.S156F, chr19 44934489 44934489 G A het . 15 +line39790 synonymous SNV ZNF180:NM_001278509:exon5:c.A1242G:p.Q414Q,ZNF180:NM_013256:exon5:c.A1323G:p.Q441Q,ZNF180:NM_001288760:exon7:c.A294G:p.Q98Q,ZNF180:NM_001288761:exon4:c.A294G:p.Q98Q,ZNF180:NM_001278508:exon4:c.A1248G:p.Q416Q,ZNF180:NM_001291633:exon5:c.A1242G:p.Q414Q,ZNF180:NM_001288762:exon4:c.A294G:p.Q98Q,ZNF180:NM_001288759:exon5:c.A1320G:p.Q440Q, chr19 44981375 44981375 T C het . 24 +line39791 nonsynonymous SNV ZNF180:NM_001278509:exon5:c.G734C:p.C245S,ZNF180:NM_013256:exon5:c.G815C:p.C272S,ZNF180:NM_001278508:exon4:c.G740C:p.C247S,ZNF180:NM_001291633:exon5:c.G734C:p.C245S,ZNF180:NM_001288759:exon5:c.G812C:p.C271S, chr19 44981883 44981883 C G het . 22 +line39792 nonsynonymous SNV ZNF180:NM_001278509:exon4:c.G186C:p.W62C,ZNF180:NM_013256:exon4:c.G267C:p.W89C,ZNF180:NM_001278508:exon3:c.G192C:p.W64C,ZNF180:NM_001291633:exon4:c.G186C:p.W62C,ZNF180:NM_001288759:exon4:c.G264C:p.W88C, chr19 44983567 44983567 C G het . 15 +line39797 nonsynonymous SNV ZNF180:NM_001278509:exon2:c.C41T:p.A14V,ZNF180:NM_013256:exon2:c.C122T:p.A41V,ZNF180:NM_001278508:exon2:c.C122T:p.A41V,ZNF180:NM_001291633:exon2:c.C41T:p.A14V,ZNF180:NM_001288759:exon2:c.C119T:p.A40V, chr19 45001346 45001346 G A het . 4 +line39802 nonsynonymous SNV CEACAM20:NM_001102600:exon10:c.T1534C:p.C512R,CEACAM20:NM_001102599:exon9:c.T1255C:p.C419R,CEACAM20:NM_001102598:exon9:c.T1255C:p.C419R,CEACAM20:NM_001102597:exon10:c.T1534C:p.C512R, chr19 45016116 45016116 A G het . 19 +line39804 nonsynonymous SNV CEACAM20:NM_001102600:exon7:c.A1409G:p.Y470C,CEACAM20:NM_001102599:exon6:c.A1130G:p.Y377C,CEACAM20:NM_001102598:exon6:c.A1130G:p.Y377C,CEACAM20:NM_001102597:exon7:c.A1409G:p.Y470C, chr19 45017249 45017249 T C het . 11 +line39806 synonymous SNV CEACAM20:NM_001102600:exon5:c.G957C:p.T319T,CEACAM20:NM_001102599:exon5:c.G957C:p.T319T,CEACAM20:NM_001102598:exon5:c.G957C:p.T319T,CEACAM20:NM_001102597:exon5:c.G957C:p.T319T, chr19 45024581 45024581 C G het . 17 +line39807 nonsynonymous SNV CEACAM20:NM_001102600:exon3:c.G322A:p.V108I,CEACAM20:NM_001102599:exon3:c.G322A:p.V108I,CEACAM20:NM_001102598:exon3:c.G322A:p.V108I,CEACAM20:NM_001102597:exon3:c.G322A:p.V108I, chr19 45028169 45028169 C T het . 29 +line39816 nonsynonymous SNV IGSF23:NM_001205280:exon1:c.A11C:p.K4T, chr19 45116966 45116966 A C het . 4 +line39817 nonsynonymous SNV IGSF23:NM_001205280:exon1:c.A19C:p.S7R, chr19 45116974 45116974 A C het . 4 +line39825 nonsynonymous SNV PVR:NM_006505:exon6:c.A1020G:p.I340M,PVR:NM_001135770:exon6:c.A1020G:p.I340M, chr19 45162038 45162038 A G het . 19 +line39826 nonsynonymous SNV PVR:NM_006505:exon6:c.C1029A:p.N343K,PVR:NM_001135770:exon6:c.C1029A:p.N343K, chr19 45162047 45162047 C A het . 18 +line39830 nonsynonymous SNV BCAM:NM_001013257:exon12:c.A1615G:p.T539A,BCAM:NM_005581:exon12:c.A1615G:p.T539A, chr19 45322744 45322744 A G het . 19 +line39836 synonymous SNV NECTIN2:NM_001042724:exon7:c.A1227G:p.P409P, chr19 45389224 45389224 A G het . 23 +line39838 synonymous SNV TOMM40:NM_001128916:exon3:c.T339C:p.F113F,TOMM40:NM_006114:exon3:c.T339C:p.F113F,TOMM40:NM_001128917:exon2:c.T339C:p.F113F, chr19 45395714 45395714 T C het . 19 +line39840 synonymous SNV TOMM40:NM_001128916:exon4:c.C393T:p.F131F,TOMM40:NM_006114:exon4:c.C393T:p.F131F,TOMM40:NM_001128917:exon3:c.C393T:p.F131F, chr19 45396144 45396144 C T het . 4 +line39845 nonsynonymous SNV APOE:NM_001302688:exon1:c.C42G:p.N14K, chr19 45409167 45409167 C G het . 2 +line39847 synonymous SNV APOE:NM_000041:exon3:c.C99A:p.R33R,APOE:NM_001302689:exon3:c.C99A:p.R33R,APOE:NM_001302690:exon3:c.C99A:p.R33R,APOE:NM_001302691:exon3:c.C99A:p.R33R,APOE:NM_001302688:exon3:c.C177A:p.R59R, chr19 45411072 45411072 C A het . 19 +line39848 nonsynonymous SNV APOE:NM_000041:exon4:c.T388C:p.C130R,APOE:NM_001302689:exon4:c.T388C:p.C130R,APOE:NM_001302690:exon4:c.T388C:p.C130R,APOE:NM_001302691:exon4:c.T388C:p.C130R,APOE:NM_001302688:exon4:c.T466C:p.C156R, chr19 45411941 45411941 T C het . 19 +line39850 nonsynonymous SNV APOC4:NM_001646:exon3:c.T287G:p.L96R, chr19 45448465 45448465 T G het . 17 +line39856 synonymous SNV CLPTM1:NM_001294:exon3:c.T264C:p.A88A,CLPTM1:NM_001282175:exon3:c.T222C:p.A74A, chr19 45476422 45476422 T C het . 10 +line39862 synonymous SNV CLPTM1:NM_001282176:exon8:c.A621G:p.P207P,CLPTM1:NM_001294:exon8:c.A927G:p.P309P,CLPTM1:NM_001282175:exon8:c.A885G:p.P295P, chr19 45490570 45490570 A G het . 23 +line39863 synonymous SNV CLPTM1:NM_001282176:exon8:c.T687C:p.G229G,CLPTM1:NM_001294:exon8:c.T993C:p.G331G,CLPTM1:NM_001282175:exon8:c.T951C:p.G317G, chr19 45490636 45490636 T C het . 26 +line39876 nonsynonymous SNV CLASRP:NM_001278439:exon6:c.A334G:p.K112E,CLASRP:NM_007056:exon7:c.A520G:p.K174E, chr19 45561063 45561063 A G het . 25 +line39877 nonframeshift deletion CLASRP:NM_001278439:exon12:c.942_944del:p.314_315del,CLASRP:NM_007056:exon13:c.1128_1130del:p.376_377del, chr19 45567607 45567609 CTC - het . 7 +line39887 nonframeshift substitution BLOC1S3:NM_212550:exon2:c.111_112AA, chr19 45682665 45682666 GG AA het . 11 +line39888 synonymous SNV BLOC1S3:NM_212550:exon2:c.G270A:p.A90A, chr19 45682824 45682824 G A het . 11 +line39898 synonymous SNV MARK4:NM_031417:exon15:c.T1683C:p.R561R,MARK4:NM_001199867:exon15:c.T1683C:p.R561R, chr19 45801018 45801018 T C het . 2 +line39900 synonymous SNV CKM:NM_001824:exon8:c.T1119C:p.I373I, chr19 45810035 45810035 A G het . 20 +line39902 synonymous SNV CKM:NM_001824:exon5:c.C627A:p.R209R, chr19 45815033 45815033 G T het . 4 +line39904 synonymous SNV CKM:NM_001824:exon4:c.T369C:p.P123P, chr19 45818835 45818835 A G het . 9 +line39905 synonymous SNV KLC3:NM_177417:exon3:c.A366G:p.E122E, chr19 45849909 45849909 A G het . 23 +line39906 nonsynonymous SNV ERCC2:NM_000400:exon23:c.A2251C:p.K751Q, chr19 45854919 45854919 T G het . 14 +line39907 synonymous SNV ERCC2:NM_000400:exon22:c.C2133T:p.D711D, chr19 45855524 45855524 G A het . 27 +line39911 nonsynonymous SNV ERCC2:NM_000400:exon10:c.G934A:p.D312N,ERCC2:NM_001130867:exon9:c.G862A:p.D288N, chr19 45867259 45867259 C T het . 5 +line39914 synonymous SNV ERCC2:NM_000400:exon6:c.A468C:p.R156R,ERCC2:NM_001130867:exon5:c.A396C:p.R132R, chr19 45868309 45868309 T G het . 11 +line39919 nonsynonymous SNV CD3EAP:NM_012099:exon3:c.A776C:p.K259T,CD3EAP:NM_001297590:exon3:c.A782C:p.K261T, chr19 45912002 45912002 A C het . 25 +line39920 nonsynonymous SNV CD3EAP:NM_012099:exon3:c.A1117G:p.K373E,CD3EAP:NM_001297590:exon3:c.A1123G:p.K375E, chr19 45912343 45912343 A G het . 26 +line39921 nonsynonymous SNV CD3EAP:NM_012099:exon3:c.G1180A:p.D394N,CD3EAP:NM_001297590:exon3:c.G1186A:p.D396N, chr19 45912406 45912406 G A het . 24 +line39922 nonframeshift deletion CD3EAP:NM_012099:exon3:c.1264_1266del:p.422_422del,CD3EAP:NM_001297590:exon3:c.1270_1272del:p.424_424del, chr19 45912490 45912492 AAG - het . 23 +line39923 nonsynonymous SNV CD3EAP:NM_012099:exon3:c.C1510A:p.Q504K,CD3EAP:NM_001297590:exon3:c.C1516A:p.Q506K, chr19 45912736 45912736 C A het . 10 +line39928 synonymous SNV ERCC1:NM_202001:exon3:c.T354C:p.N118N,ERCC1:NM_001983:exon4:c.T354C:p.N118N,ERCC1:NM_001166049:exon4:c.T354C:p.N118N, chr19 45923653 45923653 A G het . 26 +line39932 synonymous SNV FOSB:NM_006732:exon1:c.C117G:p.A39A,FOSB:NM_001114171:exon1:c.C117G:p.A39A, chr19 45971961 45971961 C G het . 12 +line39937 synonymous SNV VASP:NM_003370:exon4:c.T348G:p.G116G, chr19 46024584 46024584 T G het . 8 +line39944 synonymous SNV OPA3:NM_025136:exon2:c.T231C:p.A77A, chr19 46057081 46057081 A G het . 14 +line39948 synonymous SNV EML2:NM_001193269:exon14:c.C1497T:p.Y499Y,EML2:NM_001352051:exon9:c.C708T:p.Y236Y,EML2:NM_001193268:exon14:c.C1659T:p.Y553Y,EML2:NM_001352054:exon11:c.C990T:p.Y330Y,EML2:NM_001352052:exon14:c.C1656T:p.Y552Y,EML2:NM_012155:exon11:c.C1056T:p.Y352Y,EML2:NM_001352053:exon14:c.C1494T:p.Y498Y, chr19 46124531 46124531 G A het . 6 +line39961 nonsynonymous SNV GIPR:NM_001308418:exon11:c.G952C:p.E318Q,GIPR:NM_000164:exon12:c.G1060C:p.E354Q, chr19 46181392 46181392 G C het . 34 +line39967 synonymous SNV QPCTL:NM_001163377:exon6:c.G822A:p.L274L,QPCTL:NM_017659:exon7:c.G1104A:p.L368L, chr19 46206262 46206262 G A het . 9 +line39975 nonsynonymous SNV BHMG1:NM_001310124:exon10:c.C1163A:p.T388N, chr19 46262286 46262286 C A het . 13 +line39977 nonsynonymous SNV SIX5:NM_175875:exon3:c.G2077A:p.V693M, chr19 46268902 46268902 C T het . 11 +line39978 nonsynonymous SNV SIX5:NM_175875:exon3:c.C1903T:p.P635S, chr19 46269076 46269076 G A het . 8 +line39979 nonsynonymous SNV SIX5:NM_175875:exon3:c.C1666G:p.L556V, chr19 46269313 46269313 G C het . 8 +line39987 nonsynonymous SNV RSPH6A:NM_030785:exon3:c.C1571G:p.P524R, chr19 46307592 46307592 G C het . 16 +line39993 synonymous SNV SYMPK:NM_004819:exon19:c.G2571A:p.T857T, chr19 46327053 46327053 C T het . 13 +line40003 synonymous SNV FOXA3:NM_004497:exon2:c.C516T:p.N172N, chr19 46375779 46375779 C T het . 38 +line40008 synonymous SNV NOVA2:NM_002516:exon4:c.A861C:p.A287A, chr19 46443739 46443739 T G het . 12 +line40017 synonymous SNV CCDC61:NM_001267723:exon5:c.T540C:p.H180H, chr19 46511548 46511548 T C het . 5 +line40018 nonsynonymous SNV CCDC61:NM_001267723:exon10:c.A1166G:p.Q389R, chr19 46520026 46520026 A G het . 7 +line40036 synonymous SNV HIF3A:NM_152796:exon4:c.A306G:p.T102T,HIF3A:NM_022462:exon4:c.A306G:p.T102T,HIF3A:NM_152795:exon5:c.A513G:p.T171T,HIF3A:NM_152794:exon5:c.A507G:p.T169T, chr19 46811984 46811984 A G het . 6 +line40038 synonymous SNV HIF3A:NM_152796:exon6:c.T645C:p.D215D,HIF3A:NM_022462:exon6:c.T645C:p.D215D,HIF3A:NM_152795:exon7:c.T852C:p.D284D,HIF3A:NM_152794:exon7:c.T846C:p.D282D, chr19 46815499 46815499 T C het . 11 +line40046 nonsynonymous SNV CCDC8:NM_032040:exon1:c.C1147T:p.H383Y, chr19 46914921 46914921 G A het . 36 +line40056 nonsynonymous SNV PNMA8B:NM_020709:exon1:c.G1201A:p.V401I, chr19 46997522 46997522 C T het . 10 +line40071 synonymous SNV PTGIR:NM_000960:exon3:c.A984C:p.S328S, chr19 47124714 47124714 T G het . 10 +line40072 synonymous SNV GNG8:NM_033258:exon2:c.G87A:p.V29V, chr19 47137459 47137459 C T het . 12 +line40075 nonsynonymous SNV PRKD2:NM_016457:exon18:c.T2504C:p.V835A,PRKD2:NM_001079882:exon17:c.T2033C:p.V678A,PRKD2:NM_001079881:exon19:c.T2504C:p.V835A,PRKD2:NM_001079880:exon19:c.T2504C:p.V835A, chr19 47177913 47177913 A G het . 17 +line40080 nonsynonymous SNV SLC1A5:NM_005628:exon1:c.C49G:p.P17A, chr19 47291174 47291174 G C het . 6 +line40082 nonsynonymous SNV AP2S1:NM_001301078:exon3:c.T164G:p.I55S, chr19 47342867 47342867 A C het . 14 +line40087 synonymous SNV ARHGAP35:NM_004491:exon1:c.G3492T:p.R1164R, chr19 47425424 47425424 G T het . 12 +line40097 synonymous SNV NPAS1:NM_002517:exon9:c.G1035A:p.Q345Q,NPAS1:NM_001321086:exon5:c.G507A:p.Q169Q, chr19 47543774 47543774 G A het . 7 +line40099 synonymous SNV NPAS1:NM_002517:exon12:c.G1542A:p.A514A, chr19 47548678 47548678 G A het . 6 +line40100 synonymous SNV TMEM160:NM_017854:exon3:c.C381A:p.P127P, chr19 47549431 47549431 G T het . 4 +line40101 nonsynonymous SNV TMEM160:NM_017854:exon3:c.G358A:p.G120S, chr19 47549454 47549454 C T het . 5 +line40105 synonymous SNV ZC3H4:NM_015168:exon10:c.C1254G:p.L418L, chr19 47585517 47585517 G C het . 19 +line40117 synonymous SNV CCDC9:NM_015603:exon8:c.A868C:p.R290R, chr19 47770015 47770015 A C het . 7 +line40118 synonymous SNV CCDC9:NM_015603:exon8:c.C885T:p.A295A, chr19 47770032 47770032 C T het . 10 +line40122 synonymous SNV CCDC9:NM_015603:exon12:c.C1233T:p.D411D, chr19 47774572 47774572 C T het . 11 +line40123 nonsynonymous SNV CCDC9:NM_015603:exon12:c.T1433C:p.L478P, chr19 47774772 47774772 T C het . 10 +line40124 nonsynonymous SNV INAFM1:NM_178511:exon1:c.G236T:p.R79L, chr19 47778412 47778412 G T het . 9 +line40127 unknown UNKNOWN chr19 47823484 47823484 T C het . 10 +line40128 unknown UNKNOWN chr19 47823871 47823871 G T het . 10 +line40133 nonsynonymous SNV C5AR2:NM_001271749:exon2:c.T881C:p.F294S,C5AR2:NM_001271750:exon2:c.T881C:p.F294S,C5AR2:NM_018485:exon2:c.T881C:p.F294S, chr19 47844937 47844937 T C het . 34 +line40134 nonsynonymous SNV DHX34:NM_014681:exon3:c.C899G:p.P300R, chr19 47858489 47858489 C G het . 25 +line40144 synonymous SNV KPTN:NM_001291296:exon8:c.C738T:p.P246P,KPTN:NM_007059:exon10:c.C906T:p.P302P, chr19 47980153 47980153 G A het . 15 +line40154 synonymous SNV BICRA:NM_015711:exon6:c.C360T:p.A120A, chr19 48182787 48182787 C T het . 14 +line40155 synonymous SNV BICRA:NM_015711:exon6:c.T519C:p.P173P, chr19 48182946 48182946 T C het . 6 +line40156 synonymous SNV BICRA:NM_015711:exon6:c.A687G:p.T229T, chr19 48183114 48183114 A G het . 7 +line40157 synonymous SNV BICRA:NM_015711:exon6:c.C1344T:p.S448S, chr19 48183771 48183771 C T het . 9 +line40158 nonsynonymous SNV BICRA:NM_015711:exon6:c.C2047T:p.P683S, chr19 48184474 48184474 C T het . 16 +line40161 frameshift deletion BICRA:NM_015711:exon9:c.3025delA:p.T1009fs, chr19 48198286 48198286 A - het . 1 +line40162 nonframeshift deletion BICRA:NM_015711:exon9:c.3029_3034del:p.1010_1012del, chr19 48198290 48198295 CCACTG - het . 1 +line40163 frameshift deletion BICRA:NM_015711:exon9:c.3043_3046del:p.H1015fs, chr19 48198304 48198307 CACG - het . 2 +line40164 nonsynonymous SNV BICRA:NM_015711:exon10:c.A3130G:p.T1044A, chr19 48198675 48198675 A G het . 11 +line40168 synonymous SNV BICRA:NM_015711:exon15:c.G4299A:p.A1433A, chr19 48205288 48205288 G A het . 7 +line40174 synonymous SNV EHD2:NM_014601:exon6:c.A1137G:p.L379L, chr19 48244194 48244194 A G het . 11 +line40175 synonymous SNV EHD2:NM_014601:exon6:c.G1512A:p.E504E, chr19 48244569 48244569 G A het . 29 +line40181 synonymous SNV NOP53:NM_015710:exon6:c.A705G:p.A235A, chr19 48255804 48255804 A G het . 9 +line40183 nonsynonymous SNV NOP53:NM_015710:exon9:c.A1166G:p.Q389R, chr19 48258717 48258717 A G het . 6 +line40188 unknown UNKNOWN chr19 48284002 48284002 C T het . 14 +line40208 synonymous SNV SULT2A1:NM_003167:exon1:c.T90C:p.F30F, chr19 48389425 48389425 A G het . 22 +line40212 nonsynonymous SNV BSPH1:NM_001128326:exon1:c.C35T:p.T12M, chr19 48495304 48495304 G A het . 18 +line40218 nonsynonymous SNV ELSPBP1:NM_022142:exon6:c.G595A:p.E199K, chr19 48525507 48525507 G A het . 15 +line40220 synonymous SNV CABP5:NM_019855:exon3:c.C238T:p.L80L, chr19 48543862 48543862 G A het . 17 +line40228 nonsynonymous SNV PLA2G4C:NM_001159322:exon7:c.T637C:p.S213P,PLA2G4C:NM_001159323:exon7:c.T607C:p.S203P,PLA2G4C:NM_003706:exon7:c.T607C:p.S203P, chr19 48598823 48598823 A G het . 15 +line40230 synonymous SNV PLA2G4C:NM_001159322:exon6:c.A540G:p.P180P,PLA2G4C:NM_001159323:exon6:c.A510G:p.P170P,PLA2G4C:NM_003706:exon6:c.A510G:p.P170P, chr19 48601454 48601454 T C het . 13 +line40232 nonsynonymous SNV PLA2G4C:NM_001159322:exon5:c.A457G:p.I153V,PLA2G4C:NM_001159323:exon5:c.A427G:p.I143V,PLA2G4C:NM_003706:exon5:c.A427G:p.I143V, chr19 48602948 48602948 T C het . 10 +line40237 nonsynonymous SNV ZSWIM9:NM_199341:exon3:c.C439A:p.P147T, chr19 48685875 48685875 C A het . 33 +line40238 synonymous SNV ZSWIM9:NM_199341:exon4:c.C640T:p.L214L, chr19 48697961 48697961 C T het . 5 +line40244 synonymous SNV CARD8:NM_001351784:exon12:c.A1113G:p.Q371Q,CARD8:NM_001351786:exon13:c.A1092G:p.Q364Q,CARD8:NM_001351782:exon15:c.A1428G:p.Q476Q,CARD8:NM_001184900:exon14:c.A1428G:p.Q476Q,CARD8:NM_014959:exon13:c.A1278G:p.Q426Q,CARD8:NM_001184901:exon11:c.A1278G:p.Q426Q,CARD8:NM_001351783:exon13:c.A1278G:p.Q426Q, chr19 48715153 48715153 T C het . 16 +line40259 nonsynonymous SNV ZNF114:NM_001331097:exon6:c.C661A:p.H221N,ZNF114:NM_153608:exon6:c.C661A:p.H221N,ZNF114:NM_001331098:exon6:c.C799A:p.H267N, chr19 48789542 48789542 C A het . 22 +line40261 synonymous SNV CCDC114:NM_001364171:exon16:c.T2019C:p.S673S,CCDC114:NM_144577:exon14:c.T1908C:p.S636S, chr19 48800338 48800338 A G het . 10 +line40265 synonymous SNV CCDC114:NM_001364171:exon10:c.C918T:p.D306D,CCDC114:NM_144577:exon8:c.C807T:p.D269D, chr19 48806977 48806977 G A het . 5 +line40266 synonymous SNV CCDC114:NM_001364171:exon9:c.G696T:p.L232L,CCDC114:NM_144577:exon7:c.G585T:p.L195L, chr19 48807367 48807367 C A het . 7 +line40271 nonsynonymous SNV EMP3:NM_001425:exon5:c.A373G:p.I125V,EMP3:NM_001313905:exon5:c.A373G:p.I125V, chr19 48833608 48833608 A G het . 9 +line40272 synonymous SNV TMEM143:NM_018273:exon8:c.C1183A:p.R395R,TMEM143:NM_001303540:exon6:c.C883A:p.R295R,TMEM143:NM_001303539:exon7:c.C988A:p.R330R,TMEM143:NM_001303538:exon7:c.C1078A:p.R360R, chr19 48836673 48836673 G T het . 6 +line40273 synonymous SNV TMEM143:NM_018273:exon3:c.G312A:p.S104S,TMEM143:NM_001303539:exon3:c.G312A:p.S104S, chr19 48863386 48863386 C T het . 10 +line40274 synonymous SNV SYNGR4:NM_012451:exon4:c.G417T:p.G139G, chr19 48878955 48878955 G T het . 16 +line40281 synonymous SNV GRIN2D:NM_000836:exon13:c.T2697C:p.A899A, chr19 48945880 48945880 T C het . 4 +line40282 synonymous SNV GRWD1:NM_031485:exon1:c.G24T:p.R8R, chr19 48949286 48949286 G T het . 9 +line40287 synonymous SNV KCNJ14:NM_013348:exon3:c.C789T:p.T263T, chr19 48967512 48967512 C T het . 16 +line40289 synonymous SNV LMTK3:NM_001080434:exon12:c.T1560G:p.G520G, chr19 49002853 49002853 A C het . 11 +line40303 synonymous SNV SULT2B1:NM_004605:exon4:c.C592T:p.L198L,SULT2B1:NM_177973:exon5:c.C637T:p.L213L, chr19 49096065 49096065 C T het . 9 +line40304 synonymous SNV SULT2B1:NM_004605:exon6:c.C789T:p.C263C,SULT2B1:NM_177973:exon7:c.C834T:p.C278C, chr19 49102399 49102399 C T het . 4 +line40306 nonsynonymous SNV FAM83E:NM_017708:exon1:c.A271G:p.T91A, chr19 49116359 49116359 T C het . 11 +line40307 synonymous SNV FAM83E:NM_017708:exon1:c.T192C:p.V64V, chr19 49116438 49116438 A G het . 19 +line40308 synonymous SNV FAM83E:NM_017708:exon1:c.T75C:p.F25F, chr19 49116555 49116555 A G het . 8 +line40317 synonymous SNV NTN5:NM_145807:exon7:c.T1452C:p.S484S, chr19 49164952 49164952 A G het . 2 +line40321 synonymous SNV FUT2:NM_001097638:exon2:c.C390T:p.N130N,FUT2:NM_000511:exon2:c.C390T:p.N130N, chr19 49206603 49206603 C T het . 13 +line40322 synonymous SNV FUT2:NM_001097638:exon2:c.C513T:p.H171H,FUT2:NM_000511:exon2:c.C513T:p.H171H, chr19 49206726 49206726 C T het . 8 +line40325 synonymous SNV MAMSTR:NM_182574:exon6:c.T456C:p.R152R,MAMSTR:NM_001130915:exon8:c.T765C:p.R255R,MAMSTR:NM_001297753:exon5:c.T261C:p.R87R, chr19 49217261 49217261 A G het . 7 +line40326 synonymous SNV RASIP1:NM_017805:exon9:c.G2205C:p.A735A, chr19 49228140 49228140 C G het . 16 +line40327 nonframeshift substitution IZUMO1:NM_001321864:exon9:c.659_660TT,IZUMO1:NM_182575:exon10:c.998_999TT,IZUMO1:NM_001321865:exon9:c.476_477TT, chr19 49244219 49244220 CG AA het . 17 +line40331 synonymous SNV IZUMO1:NM_182575:exon4:c.C321T:p.F107F, chr19 49247786 49247786 G A het . 25 +line40337 synonymous SNV FGF21:NM_019113:exon2:c.A36G:p.G12G, chr19 49259529 49259529 A G het . 8 +line40339 synonymous SNV FGF21:NM_019113:exon4:c.C420T:p.H140H, chr19 49261267 49261267 C T het . 3 +line40340 nonsynonymous SNV FGF21:NM_019113:exon4:c.T521C:p.L174P, chr19 49261368 49261368 T C het . 2 +line40347 nonsynonymous SNV BCAT2:NM_001284325:exon4:c.C178G:p.Q60E,BCAT2:NM_001190:exon3:c.C298G:p.Q100E, chr19 49309776 49309776 G C het . 12 +line40351 nonsynonymous SNV PLEKHA4:NM_020904:exon4:c.G224A:p.R75H,PLEKHA4:NM_001161354:exon4:c.G224A:p.R75H, chr19 49364918 49364918 C T het . 14 +line40352 nonsynonymous SNV PPP1R15A:NM_014330:exon2:c.G94A:p.A32T, chr19 49376584 49376584 G A het . 4 +line40365 nonsynonymous SNV DHDH:NM_014475:exon1:c.T2A:p.M1K, chr19 49436980 49436980 T A het . 25 +line40366 synonymous SNV DHDH:NM_014475:exon4:c.C396T:p.S132S, chr19 49442735 49442735 C T het . 7 +line40367 synonymous SNV DHDH:NM_014475:exon4:c.T594C:p.S198S, chr19 49442933 49442933 T C het . 10 +line40368 nonsynonymous SNV DHDH:NM_014475:exon5:c.T740C:p.V247A, chr19 49445817 49445817 T C het . 3 +line40372 synonymous SNV FTL:NM_000146:exon2:c.T163C:p.L55L, chr19 49469087 49469087 T C het . 22 +line40376 synonymous SNV GYS1:NM_002103:exon7:c.C1026T:p.F342F,GYS1:NM_001161587:exon6:c.C834T:p.F278F, chr19 49485548 49485548 G A het . 34 +line40383 synonymous SNV LHB:NM_000894:exon3:c.T285C:p.G95G, chr19 49519466 49519466 A G het . 29 +line40394 nonsynonymous SNV KCNA7:NM_031886:exon2:c.T1253C:p.M418T, chr19 49573438 49573438 A G het . 16 +line40395 nonsynonymous SNV KCNA7:NM_031886:exon2:c.C566G:p.P189R, chr19 49574125 49574125 G C het . 7 +line40398 nonsynonymous SNV C19orf73:NM_018111:exon1:c.C338T:p.P113L, chr19 49621942 49621942 G A het . 6 +line40399 nonsynonymous SNV C19orf73:NM_018111:exon1:c.A316G:p.S106G, chr19 49621964 49621964 T C het . 5 +line40414 synonymous SNV PPFIA3:NM_003660:exon29:c.T3537G:p.S1179S, chr19 49653347 49653347 T G het . 18 +line40417 nonframeshift insertion HRC:NM_002152:exon1:c.605_606insGGA:p.E202delinsEE, chr19 49657889 49657889 - TCC het . 10 +line40418 nonsynonymous SNV HRC:NM_002152:exon1:c.T286G:p.S96A, chr19 49658209 49658209 A C het . 23 +line40419 nonsynonymous SNV HRC:NM_002152:exon1:c.G128A:p.S43N, chr19 49658367 49658367 C T het . 25 +line40420 synonymous SNV HRC:NM_002152:exon1:c.A105G:p.L35L, chr19 49658390 49658390 T C het . 22 +line40436 nonsynonymous SNV SLC6A16:NM_014037:exon5:c.C832G:p.L278V, chr19 49812952 49812952 G C het . 19 +line40441 synonymous SNV CD37:NM_001774:exon2:c.T114C:p.I38I, chr19 49839015 49839015 T C het . 26 +line40444 nonsynonymous SNV DKKL1:NM_001197302:exon4:c.T101G:p.M34R,DKKL1:NM_014419:exon4:c.T326G:p.M109R, chr19 49869051 49869051 T G het . 8 +line40446 nonsynonymous SNV DKKL1:NM_001197302:exon5:c.G334A:p.G112S,DKKL1:NM_014419:exon5:c.G559A:p.G187S,DKKL1:NM_001197301:exon4:c.G466A:p.G156S, chr19 49878115 49878115 G A het . 8 +line40447 nonsynonymous SNV DKKL1:NM_001197302:exon5:c.G415A:p.E139K,DKKL1:NM_014419:exon5:c.G640A:p.E214K,DKKL1:NM_001197301:exon4:c.G547A:p.E183K, chr19 49878196 49878196 G A het . 5 +line40448 synonymous SNV CCDC155:NM_144688:exon2:c.C12T:p.P4P, chr19 49894152 49894152 C T het . 2 +line40450 nonsynonymous SNV CCDC155:NM_144688:exon5:c.G386A:p.R129Q, chr19 49899076 49899076 G A het . 12 +line40452 synonymous SNV CCDC155:NM_144688:exon7:c.T547C:p.L183L, chr19 49901318 49901318 T C het . 5 +line40455 nonsynonymous SNV GFY:NM_001195256:exon1:c.T1034C:p.V345A, chr19 49930721 49930721 T C het . 7 +line40459 nonsynonymous SNV PIH1D1:NM_017916:exon9:c.C860T:p.P287L, chr19 49949652 49949652 G A het . 19 +line40460 nonsynonymous SNV PIH1D1:NM_017916:exon7:c.G670A:p.V224I, chr19 49950298 49950298 C T het . 5 +line40461 synonymous SNV PIH1D1:NM_017916:exon7:c.G612C:p.G204G, chr19 49950356 49950356 C G het . 6 +line40462 nonsynonymous SNV PIH1D1:NM_017916:exon1:c.G29A:p.G10E, chr19 49954803 49954803 C T het . 17 +line40463 nonsynonymous SNV PIH1D1:NM_017916:exon1:c.A25C:p.M9L, chr19 49954807 49954807 T G het . 15 +line40466 nonsynonymous SNV ALDH16A1:NM_153329:exon6:c.C679G:p.L227V,ALDH16A1:NM_001145396:exon6:c.C679G:p.L227V, chr19 49964977 49964977 C G het . 9 +line40468 synonymous SNV ALDH16A1:NM_153329:exon12:c.T1530G:p.V510V,ALDH16A1:NM_001145396:exon11:c.T1377G:p.V459V, chr19 49967981 49967981 T G het . 18 +line40469 synonymous SNV ALDH16A1:NM_153329:exon13:c.C1659T:p.N553N,ALDH16A1:NM_001145396:exon12:c.C1506T:p.N502N, chr19 49969085 49969085 C T het . 15 +line40471 synonymous SNV RPL13A:NM_012423:exon3:c.C135G:p.G45G, chr19 49993535 49993535 C G het . 10 +line40473 synonymous SNV NOSIP:NM_001270960:exon5:c.C381T:p.N127N,NOSIP:NM_015953:exon6:c.C381T:p.N127N,NOSIP:NM_001363649:exon6:c.C381T:p.N127N, chr19 50060384 50060384 G A het . 14 +line40478 synonymous SNV RRAS:NM_006270:exon3:c.C333T:p.N111N, chr19 50140092 50140092 G A het . 16 +line40480 synonymous SNV SCAF1:NM_021228:exon7:c.C762T:p.T254T, chr19 50154408 50154408 C T het . 20 +line40481 nonsynonymous SNV SCAF1:NM_021228:exon7:c.A1258C:p.T420P, chr19 50154904 50154904 A C het . 2 +line40482 synonymous SNV SCAF1:NM_021228:exon7:c.T3250C:p.L1084L, chr19 50156896 50156896 T C het . 6 +line40483 nonsynonymous SNV IRF3:NM_001197125:exon7:c.G842C:p.S281T,IRF3:NM_001197128:exon5:c.G461C:p.S154T,IRF3:NM_001197122:exon8:c.G1296C:p.E432D,IRF3:NM_001197123:exon8:c.G1175C:p.S392T,IRF3:NM_001197127:exon6:c.G461C:p.S154T,IRF3:NM_001197124:exon7:c.G899C:p.S300T,IRF3:NM_001571:exon8:c.G1280C:p.S427T,IRF3:NM_001197126:exon6:c.G842C:p.S281T, chr19 50162909 50162909 C G het . 7 +line40486 nonsynonymous SNV CPT1C:NM_001199753:exon18:c.C2077A:p.L693M,CPT1C:NM_152359:exon17:c.C2077A:p.L693M,CPT1C:NM_001136052:exon18:c.C2044A:p.L682M,CPT1C:NM_001199752:exon18:c.C2077A:p.L693M, chr19 50216050 50216050 C A het . 20 +line40489 nonsynonymous SNV TSKS:NM_021733:exon4:c.G499A:p.E167K, chr19 50251422 50251422 C T het . 9 +line40501 nonsynonymous SNV PTOV1:NM_001305108:exon1:c.T47G:p.V16G,PTOV1:NM_001364747:exon1:c.T47G:p.V16G,PTOV1:NM_001364745:exon1:c.T47G:p.V16G,PTOV1:NM_001364749:exon1:c.T47G:p.V16G, chr19 50354184 50354184 T G het . 29 +line40503 nonsynonymous SNV TBC1D17:NM_024682:exon4:c.A251G:p.D84G,TBC1D17:NM_001168222:exon3:c.A152G:p.D51G, chr19 50383591 50383591 A G het . 10 +line40504 nonsynonymous SNV TBC1D17:NM_024682:exon4:c.T296C:p.L99P,TBC1D17:NM_001168222:exon3:c.T197C:p.L66P, chr19 50383636 50383636 T C het . 3 +line40506 synonymous SNV TBC1D17:NM_024682:exon12:c.C1257T:p.G419G,TBC1D17:NM_001168222:exon11:c.C1158T:p.G386G, chr19 50387729 50387729 C T het . 11 +line40508 synonymous SNV NUP62:NM_012346:exon2:c.T1323C:p.D441D,NUP62:NM_153719:exon3:c.T1323C:p.D441D,NUP62:NM_016553:exon3:c.T1323C:p.D441D,NUP62:NM_001193357:exon2:c.T1323C:p.D441D,NUP62:NM_153718:exon2:c.T1323C:p.D441D, chr19 50411742 50411742 A G het . 26 +line40509 nonsynonymous SNV NUP62:NM_012346:exon2:c.G848C:p.S283T,NUP62:NM_153719:exon3:c.G848C:p.S283T,NUP62:NM_016553:exon3:c.G848C:p.S283T,NUP62:NM_001193357:exon2:c.G848C:p.S283T,NUP62:NM_153718:exon2:c.G848C:p.S283T, chr19 50412217 50412217 C G het . 3 +line40510 synonymous SNV NUP62:NM_012346:exon2:c.C648T:p.S216S,NUP62:NM_153719:exon3:c.C648T:p.S216S,NUP62:NM_016553:exon3:c.C648T:p.S216S,NUP62:NM_001193357:exon2:c.C648T:p.S216S,NUP62:NM_153718:exon2:c.C648T:p.S216S, chr19 50412417 50412417 G A het . 22 +line40511 synonymous SNV ATF5:NM_001193646:exon3:c.T247C:p.L83L,ATF5:NM_001290746:exon3:c.T247C:p.L83L,ATF5:NM_012068:exon4:c.T247C:p.L83L, chr19 50435747 50435747 T C het . 6 +line40512 nonsynonymous SNV ATF5:NM_001193646:exon3:c.C362T:p.P121L,ATF5:NM_001290746:exon3:c.C362T:p.P121L,ATF5:NM_012068:exon4:c.C362T:p.P121L, chr19 50435862 50435862 C T het . 6 +line40513 synonymous SNV ATF5:NM_001193646:exon3:c.C498T:p.C166C,ATF5:NM_001290746:exon3:c.C498T:p.C166C,ATF5:NM_012068:exon4:c.C498T:p.C166C, chr19 50435998 50435998 C T het . 7 +line40517 synonymous SNV SIGLEC16:NM_001348364:exon6:c.G1059C:p.L353L, chr19 50475114 50475114 G C het . 3 +line40518 nonsynonymous SNV SIGLEC16:NM_001348364:exon6:c.G1204C:p.E402Q, chr19 50475259 50475259 G C het . 23 +line40548 synonymous SNV MYH14:NM_024729:exon5:c.G657A:p.A219A,MYH14:NM_001077186:exon5:c.G657A:p.A219A,MYH14:NM_001145809:exon5:c.G657A:p.A219A, chr19 50726570 50726570 G A het . 15 +line40558 synonymous SNV MYH14:NM_024729:exon17:c.A2127G:p.P709P,MYH14:NM_001077186:exon18:c.A2151G:p.P717P,MYH14:NM_001145809:exon19:c.A2250G:p.P750P, chr19 50762418 50762418 A G het . 5 +line40564 synonymous SNV MYH14:NM_024729:exon22:c.G2895A:p.L965L,MYH14:NM_001077186:exon23:c.G2919A:p.L973L,MYH14:NM_001145809:exon24:c.G3018A:p.L1006L, chr19 50771609 50771609 G A het . 16 +line40571 synonymous SNV MYH14:NM_024729:exon37:c.G5307A:p.S1769S,MYH14:NM_001077186:exon38:c.G5331A:p.S1777S,MYH14:NM_001145809:exon39:c.G5430A:p.S1810S, chr19 50796905 50796905 G A het . 3 +line40578 nonsynonymous SNV NAPSA:NM_004851:exon7:c.G928A:p.A310T, chr19 50862768 50862768 C T het . 7 +line40580 nonframeshift insertion NR1H2:NM_007121:exon6:c.514_515insAAC:p.K172delinsKQ,NR1H2:NM_001256647:exon5:c.223_224insAAC:p.K75delinsKQ, chr19 50881820 50881820 - AAC het . 7 +line40581 synonymous SNV POLD1:NM_001308632:exon11:c.C1485T:p.T495T,POLD1:NM_002691:exon12:c.C1485T:p.T495T,POLD1:NM_001256849:exon12:c.C1485T:p.T495T, chr19 50909765 50909765 C T het . 9 +line40589 synonymous SNV MYBPC2:NM_004533:exon26:c.T3207C:p.C1069C, chr19 50965272 50965272 T C het . 7 +line40598 synonymous SNV SYT3:NM_032298:exon6:c.A1563G:p.V521V,SYT3:NM_001160328:exon8:c.A1563G:p.V521V,SYT3:NM_001160329:exon8:c.A1563G:p.V521V, chr19 51128661 51128661 T C het . 4 +line40599 nonsynonymous SNV C19orf81:NM_001195076:exon3:c.T229G:p.S77A, chr19 51159571 51159571 T G het . 10 +line40600 nonsynonymous SNV SHANK1:NM_016148:exon23:c.T4511C:p.V1504A, chr19 51170706 51170706 A G het . 3 +line40601 synonymous SNV SHANK1:NM_016148:exon23:c.T3966G:p.G1322G, chr19 51171251 51171251 A C het . 3 +line40612 nonframeshift substitution ACP4:NM_033068:exon9:c.973_974AA, chr19 51297825 51297826 GC AA het . 15 +line40617 nonsynonymous SNV KLK1:NM_002257:exon3:c.G433C:p.E145Q, chr19 51323473 51323473 C G het . 2 +line40618 synonymous SNV KLK1:NM_002257:exon3:c.T405C:p.D135D, chr19 51323501 51323501 A G het . 9 +line40626 synonymous SNV KLK3:NM_001030047:exon2:c.T48C:p.G16G,KLK3:NM_001030048:exon2:c.T48C:p.G16G,KLK3:NM_001648:exon2:c.T48C:p.G16G, chr19 51359497 51359497 T C het . 3 +line40627 synonymous SNV KLK3:NM_001030047:exon2:c.A54G:p.A18A,KLK3:NM_001030048:exon2:c.A54G:p.A18A,KLK3:NM_001648:exon2:c.A54G:p.A18A, chr19 51359503 51359503 A G het . 3 +line40631 synonymous SNV KLK2:NM_001002231:exon3:c.C372T:p.L124L,KLK2:NM_005551:exon3:c.C372T:p.L124L,KLK2:NM_001256080:exon2:c.C66T:p.L22L, chr19 51379893 51379893 C T het . 25 +line40633 nonsynonymous SNV KLK4:NM_001302961:exon5:c.G386T:p.G129V,KLK4:NM_004917:exon5:c.G671T:p.G224V, chr19 51410284 51410284 C A het . 32 +line40635 nonsynonymous SNV KLK4:NM_001302961:exon4:c.C306A:p.H102Q,KLK4:NM_004917:exon4:c.C591A:p.H197Q, chr19 51411636 51411636 G T het . 22 +line40636 synonymous SNV KLK4:NM_004917:exon2:c.G66T:p.S22S, chr19 51412666 51412666 C A het . 20 +line40641 nonsynonymous SNV KLK5:NM_012427:exon4:c.A457G:p.N153D,KLK5:NM_001077491:exon5:c.A457G:p.N153D,KLK5:NM_001077492:exon4:c.A457G:p.N153D, chr19 51452250 51452250 T C het . 22 +line40647 nonsynonymous SNV KLK7:NM_001243126:exon2:c.T161C:p.L54P, chr19 51485622 51485622 A G het . 11 +line40649 nonsynonymous SNV KLK7:NM_001243126:exon1:c.A1C:p.M1L, chr19 51487175 51487175 T G het . 18 +line40652 synonymous SNV KLK9:NM_012315:exon4:c.A543C:p.G181G, chr19 51507020 51507020 T G het . 7 +line40659 nonsynonymous SNV KLK10:NM_002776:exon4:c.T446C:p.L149P,KLK10:NM_145888:exon4:c.T446C:p.L149P,KLK10:NM_001077500:exon4:c.T446C:p.L149P, chr19 51519236 51519236 A G het . 15 +line40660 synonymous SNV KLK10:NM_002776:exon4:c.G423A:p.L141L,KLK10:NM_145888:exon4:c.G423A:p.L141L,KLK10:NM_001077500:exon4:c.G423A:p.L141L, chr19 51519259 51519259 C T het . 17 +line40661 synonymous SNV KLK10:NM_002776:exon4:c.C336G:p.T112T,KLK10:NM_145888:exon4:c.C336G:p.T112T,KLK10:NM_001077500:exon4:c.C336G:p.T112T, chr19 51519346 51519346 G C het . 11 +line40662 synonymous SNV KLK10:NM_002776:exon4:c.A318C:p.G106G,KLK10:NM_145888:exon4:c.A318C:p.G106G,KLK10:NM_001077500:exon4:c.A318C:p.G106G, chr19 51519364 51519364 T G het . 8 +line40663 nonsynonymous SNV KLK10:NM_002776:exon3:c.T148G:p.S50A,KLK10:NM_145888:exon3:c.T148G:p.S50A,KLK10:NM_001077500:exon3:c.T148G:p.S50A, chr19 51520487 51520487 A C het . 13 +line40667 nonsynonymous SNV KLK11:NM_144947:exon1:c.G33C:p.K11N, chr19 51530741 51530741 C G het . 12 +line40677 nonsynonymous SNV KLK14:NM_022046:exon4:c.C133T:p.H45Y,KLK14:NM_001311182:exon4:c.C133T:p.H45Y, chr19 51584916 51584916 G A het . 8 +line40678 nonsynonymous SNV KLK14:NM_022046:exon4:c.A98G:p.Q33R,KLK14:NM_001311182:exon4:c.A98G:p.Q33R, chr19 51584951 51584951 T C het . 2 +line40679 nonsynonymous SNV CTU1:NM_145232:exon3:c.G607C:p.E203Q, chr19 51602298 51602298 C G het . 13 +line40680 nonsynonymous SNV SIGLEC9:NM_001198558:exon1:c.A298G:p.K100E,SIGLEC9:NM_014441:exon1:c.A298G:p.K100E, chr19 51628529 51628529 A G het . 13 +line40681 nonsynonymous SNV SIGLEC9:NM_001198558:exon4:c.C944A:p.A315E,SIGLEC9:NM_014441:exon4:c.C944A:p.A315E, chr19 51630482 51630482 C A het . 11 +line40683 synonymous SNV SIGLEC7:NM_016543:exon6:c.A1077T:p.G359G,SIGLEC7:NM_014385:exon7:c.A1356T:p.G452G, chr19 51656454 51656454 A T het . 6 +line40691 nonsynonymous SNV CD33:NM_001177608:exon2:c.A205G:p.R69G,CD33:NM_001772:exon2:c.A205G:p.R69G, chr19 51728641 51728641 A G het . 9 +line40696 frameshift insertion VSIG10L:NM_001163922:exon10:c.2576dupC:p.A859fs, chr19 51835892 51835892 - G het . 7 +line40697 synonymous SNV VSIG10L:NM_001163922:exon9:c.T2448C:p.P816P, chr19 51837171 51837171 A G het . 9 +line40700 nonsynonymous SNV VSIG10L:NM_001163922:exon3:c.G1068A:p.M356I, chr19 51843808 51843808 C T het . 22 +line40701 synonymous SNV VSIG10L:NM_001163922:exon2:c.C324A:p.S108S, chr19 51844978 51844978 G T het . 26 +line40702 nonsynonymous SNV VSIG10L:NM_001163922:exon1:c.A8C:p.N3T, chr19 51845371 51845371 T G het . 13 +line40703 nonsynonymous SNV ETFB:NM_001985:exon5:c.C461T:p.T154M,ETFB:NM_001014763:exon4:c.C734T:p.T245M, chr19 51850290 51850290 G A het . 14 +line40709 nonsynonymous SNV ETFB:NM_001014763:exon1:c.A302C:p.D101A, chr19 51857591 51857591 T G het . 16 +line40710 nonsynonymous SNV ETFB:NM_001014763:exon1:c.C155T:p.P52L, chr19 51857738 51857738 G A het . 24 +line40712 synonymous SNV CLDND2:NM_152353:exon2:c.C255T:p.C85C, chr19 51871195 51871195 G A het . 20 +line40715 synonymous SNV SIGLEC10:NM_001171161:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171158:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171157:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171159:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171156:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001322105:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_033130:exon2:c.G144A:p.Q48Q, chr19 51920613 51920613 C T het . 11 +line40718 nonsynonymous SNV SIGLEC8:NM_001363548:exon5:c.A883G:p.R295G,SIGLEC8:NM_014442:exon6:c.A1162G:p.R388G, chr19 51957556 51957556 T C het . 4 +line40721 nonsynonymous SNV CEACAM18:NM_001278392:exon3:c.T479A:p.L160H, chr19 51984725 51984725 T A het . 16 +line40726 nonsynonymous SNV SIGLEC12:NM_053003:exon7:c.A1582T:p.R528W,SIGLEC12:NM_033329:exon6:c.A1228T:p.R410W, chr19 52000151 52000151 T A het . 10 +line40727 nonsynonymous SNV SIGLEC12:NM_053003:exon6:c.A1481C:p.Y494S,SIGLEC12:NM_033329:exon5:c.A1127C:p.Y376S, chr19 52000624 52000624 T G het . 14 +line40728 nonsynonymous SNV SIGLEC12:NM_053003:exon6:c.C1433T:p.T478M,SIGLEC12:NM_033329:exon5:c.C1079T:p.T360M, chr19 52000672 52000672 G A het . 14 +line40730 nonsynonymous SNV SIGLEC12:NM_053003:exon2:c.C651G:p.H217Q,SIGLEC12:NM_033329:exon1:c.C297G:p.H99Q, chr19 52003331 52003331 G C het . 12 +line40731 nonsynonymous SNV SIGLEC12:NM_053003:exon1:c.C245T:p.A82V, chr19 52004743 52004743 G A het . 20 +line40732 frameshift insertion SIGLEC12:NM_053003:exon1:c.196dupG:p.A66fs, chr19 52004791 52004791 - C het . 20 +line40733 synonymous SNV SIGLEC12:NM_053003:exon1:c.C193A:p.R65R, chr19 52004795 52004795 G T het . 21 +line40739 nonsynonymous SNV SIGLEC6:NM_001177548:exon4:c.C736T:p.P246S, chr19 52033742 52033742 G A het . 10 +line40741 synonymous SNV ZNF175:NM_007147:exon4:c.G255A:p.P85P, chr19 52085095 52085095 G A het . 22 +line40743 nonsynonymous SNV ZNF175:NM_007147:exon5:c.C430T:p.R144C, chr19 52090014 52090014 C T het . 23 +line40744 synonymous SNV ZNF175:NM_007147:exon5:c.T516C:p.N172N, chr19 52090100 52090100 T C het . 21 +line40745 nonsynonymous SNV ZNF175:NM_007147:exon5:c.G1977C:p.K659N, chr19 52091561 52091561 G C het . 20 +line40751 nonsynonymous SNV SIGLEC5:NM_003830:exon9:c.C1495G:p.P499A, chr19 52115645 52115645 G C het . 7 +line40754 synonymous SNV SIGLEC5:NM_003830:exon6:c.G1167T:p.G389G, chr19 52130830 52130830 C A het . 17 +line40768 synonymous SNV HAS1:NM_001297436:exon3:c.C795T:p.D265D,HAS1:NM_001523:exon3:c.C798T:p.D266D, chr19 52220351 52220351 G A het . 19 +line40770 nonsynonymous SNV HAS1:NM_001297436:exon2:c.T37C:p.C13R,HAS1:NM_001523:exon2:c.T40C:p.C14R, chr19 52223121 52223121 A G het . 5 +line40772 nonsynonymous SNV FPR1:NM_002029:exon2:c.A1037C:p.E346A,FPR1:NM_001193306:exon3:c.A1037C:p.E346A, chr19 52249211 52249211 T G het . 11 +line40773 nonsynonymous SNV FPR1:NM_002029:exon2:c.T576G:p.N192K,FPR1:NM_001193306:exon3:c.T576G:p.N192K, chr19 52249672 52249672 A C het . 23 +line40774 nonsynonymous SNV FPR1:NM_002029:exon2:c.T32C:p.I11T,FPR1:NM_001193306:exon3:c.T32C:p.I11T, chr19 52250216 52250216 A G het . 14 +line40775 nonsynonymous SNV FPR2:NM_001005738:exon2:c.G211A:p.D71N,FPR2:NM_001462:exon2:c.G211A:p.D71N, chr19 52272122 52272122 G A het . 26 +line40777 synonymous SNV FPR3:NM_002030:exon2:c.C783T:p.G261G, chr19 52327784 52327784 C T het . 30 +line40778 nonsynonymous SNV ZNF577:NM_032679:exon7:c.A736G:p.K246E,ZNF577:NM_001135590:exon7:c.A559G:p.K187E, chr19 52376507 52376507 T C het . 19 +line40779 synonymous SNV ZNF577:NM_032679:exon7:c.A291T:p.V97V, chr19 52376952 52376952 T A het . 5 +line40795 synonymous SNV ZNF432:NM_001322285:exon5:c.A1356C:p.T452T,ZNF432:NM_014650:exon5:c.A1356C:p.T452T,ZNF432:NM_001322284:exon5:c.A1356C:p.T452T, chr19 52537576 52537576 T G het . 22 +line40796 synonymous SNV ZNF432:NM_001322285:exon5:c.T504C:p.G168G,ZNF432:NM_014650:exon5:c.T504C:p.G168G,ZNF432:NM_001322284:exon5:c.T504C:p.G168G, chr19 52538428 52538428 A G het . 44 +line40797 nonsynonymous SNV ZNF841:NM_001352298:exon6:c.G1430T:p.R477I,ZNF841:NM_001321349:exon5:c.G1082T:p.R361I,ZNF841:NM_001136499:exon7:c.G1430T:p.R477I,ZNF841:NM_001352299:exon6:c.G1430T:p.R477I, chr19 52569705 52569705 C A het . 13 +line40798 nonsynonymous SNV ZNF841:NM_001352298:exon6:c.G1427T:p.R476L,ZNF841:NM_001321349:exon5:c.G1079T:p.R360L,ZNF841:NM_001136499:exon7:c.G1427T:p.R476L,ZNF841:NM_001352299:exon6:c.G1427T:p.R476L, chr19 52569708 52569708 C A het . 12 +line40799 nonsynonymous SNV ZNF841:NM_001352298:exon6:c.G421C:p.V141L,ZNF841:NM_001321349:exon5:c.G73C:p.V25L,ZNF841:NM_001136499:exon7:c.G421C:p.V141L,ZNF841:NM_001352299:exon6:c.G421C:p.V141L, chr19 52570714 52570714 C G het . 20 +line40800 synonymous SNV ZNF841:NM_001352298:exon6:c.T352C:p.L118L,ZNF841:NM_001321349:exon5:c.T4C:p.L2L,ZNF841:NM_001136499:exon7:c.T352C:p.L118L,ZNF841:NM_001352299:exon6:c.T352C:p.L118L, chr19 52570783 52570783 A G het . 21 +line40802 stopgain ZNF836:NM_001102657:exon5:c.C1654T:p.Q552X, chr19 52659282 52659282 G A het . 31 +line40807 stopgain ZNF766:NM_001010851:exon4:c.C813A:p.Y271X, chr19 52793857 52793857 C A het . 28 +line40810 frameshift deletion ZNF480:NM_001297624:exon2:c.5_6del:p.L2fs,ZNF480:NM_144684:exon2:c.5_6del:p.L2fs, chr19 52803670 52803671 TG - het . 19 +line40812 nonsynonymous SNV ZNF480:NM_001297624:exon4:c.C400T:p.P134S,ZNF480:NM_144684:exon5:c.C529T:p.P177S,ZNF480:NM_001297625:exon4:c.C298T:p.P100S, chr19 52825032 52825032 C T het . 27 +line40813 synonymous SNV ZNF480:NM_001297624:exon4:c.A603G:p.S201S,ZNF480:NM_144684:exon5:c.A732G:p.S244S,ZNF480:NM_001297625:exon4:c.A501G:p.S167S, chr19 52825235 52825235 A G het . 17 +line40819 synonymous SNV ZNF610:NM_173530:exon4:c.C84T:p.D28D,ZNF610:NM_001161425:exon4:c.C84T:p.D28D,ZNF610:NM_001161427:exon4:c.C84T:p.D28D,ZNF610:NM_001161426:exon4:c.C84T:p.D28D, chr19 52856955 52856955 C T het . 20 +line40821 nonsynonymous SNV ZNF610:NM_173530:exon6:c.G391T:p.A131S,ZNF610:NM_001161425:exon6:c.G391T:p.A131S,ZNF610:NM_001161427:exon5:c.G262T:p.A88S,ZNF610:NM_001161426:exon6:c.G391T:p.A131S, chr19 52869022 52869022 G T het . 24 +line40822 nonsynonymous SNV ZNF610:NM_173530:exon6:c.G647C:p.R216P,ZNF610:NM_001161425:exon6:c.G647C:p.R216P,ZNF610:NM_001161427:exon5:c.G518C:p.R173P,ZNF610:NM_001161426:exon6:c.G647C:p.R216P, chr19 52869278 52869278 G C het . 27 +line40823 synonymous SNV ZNF610:NM_173530:exon6:c.T681C:p.T227T,ZNF610:NM_001161425:exon6:c.T681C:p.T227T,ZNF610:NM_001161427:exon5:c.T552C:p.T184T,ZNF610:NM_001161426:exon6:c.T681C:p.T227T, chr19 52869312 52869312 T C het . 28 +line40824 synonymous SNV ZNF610:NM_173530:exon6:c.G903A:p.S301S,ZNF610:NM_001161425:exon6:c.G903A:p.S301S,ZNF610:NM_001161427:exon5:c.G774A:p.S258S,ZNF610:NM_001161426:exon6:c.G903A:p.S301S, chr19 52869534 52869534 G A het . 25 +line40834 frameshift deletion ZNF880:NM_001145434:exon4:c.313delA:p.K105fs, chr19 52887146 52887146 A - het . 15 +line40835 nonframeshift insertion ZNF880:NM_001145434:exon4:c.413_414insCAA:p.I138delinsIN, chr19 52887246 52887246 - CAA het . 39 +line40836 nonsynonymous SNV ZNF880:NM_001145434:exon4:c.A594C:p.R198S, chr19 52887427 52887427 A C het . 26 +line40837 nonsynonymous SNV ZNF880:NM_001145434:exon4:c.A604C:p.N202H, chr19 52887437 52887437 A C het . 24 +line40838 synonymous SNV ZNF880:NM_001145434:exon4:c.T1071C:p.C357C, chr19 52887904 52887904 T C het . 18 +line40839 synonymous SNV ZNF880:NM_001145434:exon4:c.T1377C:p.T459T, chr19 52888210 52888210 T C het . 21 +line40840 nonsynonymous SNV ZNF880:NM_001145434:exon4:c.A1412G:p.K471R, chr19 52888245 52888245 A G het . 27 +line40850 nonsynonymous SNV ZNF528:NM_032423:exon7:c.G1328C:p.G443A, chr19 52919433 52919433 G C het . 21 +line40853 nonsynonymous SNV ZNF534:NM_001143938:exon2:c.A14C:p.Q5P,ZNF534:NM_001291369:exon2:c.A14C:p.Q5P,ZNF534:NM_001143939:exon2:c.A14C:p.Q5P,ZNF534:NM_001291368:exon2:c.A14C:p.Q5P, chr19 52934741 52934741 A C het . 12 +line40855 nonsynonymous SNV ZNF534:NM_001351679:exon3:c.C86A:p.T29N,ZNF534:NM_001143938:exon4:c.C170A:p.T57N,ZNF534:NM_001143939:exon4:c.C209A:p.T70N,ZNF534:NM_001291368:exon4:c.C170A:p.T57N, chr19 52938361 52938361 C A het . 11 +line40856 nonsynonymous SNV ZNF534:NM_001351679:exon3:c.A142G:p.I48V,ZNF534:NM_001143938:exon4:c.A226G:p.I76V,ZNF534:NM_001143939:exon4:c.A265G:p.I89V,ZNF534:NM_001291368:exon4:c.A226G:p.I76V, chr19 52938417 52938417 A G het . 13 +line40857 nonsynonymous SNV ZNF534:NM_001351679:exon3:c.A184G:p.T62A,ZNF534:NM_001143938:exon4:c.A268G:p.T90A,ZNF534:NM_001143939:exon4:c.A307G:p.T103A,ZNF534:NM_001291368:exon4:c.A268G:p.T90A, chr19 52938459 52938459 A G het . 5 +line40861 nonsynonymous SNV ZNF534:NM_001351679:exon4:c.T374C:p.F125S,ZNF534:NM_001143938:exon5:c.T458C:p.F153S,ZNF534:NM_001143939:exon5:c.T497C:p.F166S, chr19 52941171 52941171 T C het . 10 +line40862 nonsynonymous SNV ZNF534:NM_001351679:exon4:c.G743A:p.G248E,ZNF534:NM_001143938:exon5:c.G827A:p.G276E,ZNF534:NM_001143939:exon5:c.G866A:p.G289E, chr19 52941540 52941540 G A het . 23 +line40863 nonsynonymous SNV ZNF534:NM_001351679:exon4:c.A821C:p.E274A,ZNF534:NM_001143938:exon5:c.A905C:p.E302A,ZNF534:NM_001143939:exon5:c.A944C:p.E315A, chr19 52941618 52941618 A C het . 14 +line40864 synonymous SNV ZNF534:NM_001351679:exon4:c.A1050T:p.G350G,ZNF534:NM_001143938:exon5:c.A1134T:p.G378G,ZNF534:NM_001143939:exon5:c.A1173T:p.G391G, chr19 52941847 52941847 A T het . 10 +line40865 synonymous SNV ZNF534:NM_001351679:exon4:c.A1362G:p.Q454Q,ZNF534:NM_001143938:exon5:c.A1446G:p.Q482Q,ZNF534:NM_001143939:exon5:c.A1485G:p.Q495Q, chr19 52942159 52942159 A G het . 13 +line40878 synonymous SNV ZNF534:NM_001291369:exon4:c.T210C:p.A70A,ZNF534:NM_001291368:exon5:c.T339C:p.A113A, chr19 52954507 52954507 T C het . 18 +line40891 nonsynonymous SNV ZNF578:NM_001099694:exon6:c.G712A:p.E238K, chr19 53014346 53014346 G A het . 27 +line40898 nonsynonymous SNV ZNF808:NM_001039886:exon5:c.G784A:p.D262N,ZNF808:NM_001363550:exon3:c.G577A:p.D193N,ZNF808:NM_001321424:exon5:c.G784A:p.D262N,ZNF808:NM_001321425:exon4:c.G784A:p.D262N, chr19 53056953 53056953 G A het . 8 +line40899 nonsynonymous SNV ZNF701:NM_001172655:exon2:c.G25T:p.D9Y, chr19 53075519 53075519 G T het . 2 +line40901 nonsynonymous SNV ZNF701:NM_001172655:exon3:c.T209C:p.L70P,ZNF701:NM_018260:exon2:c.T11C:p.L4P, chr19 53077411 53077411 T C het . 13 +line40903 nonsynonymous SNV ZNF701:NM_001172655:exon5:c.C545T:p.T182I,ZNF701:NM_018260:exon4:c.C347T:p.T116I, chr19 53085659 53085659 C T het . 13 +line40904 synonymous SNV ZNF701:NM_001172655:exon5:c.T699C:p.A233A,ZNF701:NM_018260:exon4:c.T501C:p.A167A, chr19 53085813 53085813 T C het . 38 +line40905 nonsynonymous SNV ZNF701:NM_001172655:exon5:c.C1010A:p.T337K,ZNF701:NM_018260:exon4:c.C812A:p.T271K, chr19 53086124 53086124 C A het . 27 +line40930 nonsynonymous SNV ZNF83:NM_001277949:exon5:c.G287A:p.S96N,ZNF83:NM_001277947:exon6:c.G287A:p.S96N,ZNF83:NM_001277945:exon6:c.G287A:p.S96N,ZNF83:NM_001277951:exon3:c.G287A:p.S96N,ZNF83:NM_001105551:exon5:c.G287A:p.S96N,ZNF83:NM_001105552:exon4:c.G287A:p.S96N,ZNF83:NM_001105549:exon6:c.G287A:p.S96N,ZNF83:NM_001105550:exon5:c.G287A:p.S96N,ZNF83:NM_001277948:exon5:c.G287A:p.S96N,ZNF83:NM_001277946:exon4:c.G287A:p.S96N,ZNF83:NM_018300:exon3:c.G287A:p.S96N,ZNF83:NM_001348018:exon6:c.G287A:p.S96N,ZNF83:NM_001277952:exon5:c.G287A:p.S96N,ZNF83:NM_001348015:exon7:c.G287A:p.S96N,ZNF83:NM_001348016:exon4:c.G287A:p.S96N,ZNF83:NM_001348017:exon7:c.G287A:p.S96N,ZNF83:NM_001348019:exon7:c.G287A:p.S96N, chr19 53117531 53117531 C T het . 29 +line40931 synonymous SNV ZNF83:NM_001277949:exon5:c.G9T:p.G3G,ZNF83:NM_001277947:exon6:c.G9T:p.G3G,ZNF83:NM_001277945:exon6:c.G9T:p.G3G,ZNF83:NM_001277951:exon3:c.G9T:p.G3G,ZNF83:NM_001105551:exon5:c.G9T:p.G3G,ZNF83:NM_001105552:exon4:c.G9T:p.G3G,ZNF83:NM_001105549:exon6:c.G9T:p.G3G,ZNF83:NM_001105550:exon5:c.G9T:p.G3G,ZNF83:NM_001277948:exon5:c.G9T:p.G3G,ZNF83:NM_001277946:exon4:c.G9T:p.G3G,ZNF83:NM_018300:exon3:c.G9T:p.G3G,ZNF83:NM_001348018:exon6:c.G9T:p.G3G,ZNF83:NM_001277952:exon5:c.G9T:p.G3G,ZNF83:NM_001348015:exon7:c.G9T:p.G3G,ZNF83:NM_001348016:exon4:c.G9T:p.G3G,ZNF83:NM_001348017:exon7:c.G9T:p.G3G,ZNF83:NM_001348019:exon7:c.G9T:p.G3G, chr19 53117809 53117809 C A het . 10 +line40961 nonsynonymous SNV ZNF600:NM_001321866:exon6:c.T832C:p.C278R,ZNF600:NM_001321867:exon4:c.T832C:p.C278R,ZNF600:NM_198457:exon3:c.T625C:p.C209R, chr19 53270384 53270384 A G het . 7 +line40963 nonsynonymous SNV ZNF600:NM_001321866:exon4:c.G19C:p.A7P,ZNF600:NM_001321867:exon2:c.G19C:p.A7P, chr19 53282123 53282123 C G het . 10 +line40981 nonsynonymous SNV ZNF28:NM_006969:exon4:c.T1571C:p.M524T, chr19 53303527 53303527 A G het . 28 +line40982 nonsynonymous SNV ZNF28:NM_006969:exon4:c.A1393C:p.K465Q, chr19 53303705 53303705 T G het . 19 +line40983 synonymous SNV ZNF28:NM_006969:exon4:c.A1353G:p.Q451Q, chr19 53303745 53303745 T C het . 25 +line41001 nonsynonymous SNV ZNF468:NM_001008801:exon4:c.A1121G:p.H374R, chr19 53344426 53344426 T C het . 25 +line41002 synonymous SNV ZNF468:NM_001008801:exon4:c.T846C:p.H282H, chr19 53344701 53344701 A G het . 28 +line41003 nonsynonymous SNV ZNF468:NM_001008801:exon4:c.A628C:p.M210L, chr19 53344919 53344919 T G het . 37 +line41004 nonsynonymous SNV ZNF468:NM_001008801:exon4:c.G371A:p.G124D, chr19 53345176 53345176 C T het . 22 +line41010 synonymous SNV ZNF320:NM_001351775:exon6:c.G1194A:p.A398A,ZNF320:NM_207333:exon5:c.G1194A:p.A398A,ZNF320:NM_001351774:exon6:c.G1194A:p.A398A,ZNF320:NM_001351776:exon5:c.G1194A:p.A398A,ZNF320:NM_001351773:exon4:c.G1194A:p.A398A, chr19 53384185 53384185 C T het . 22 +line41011 nonsynonymous SNV ZNF888:NM_001310127:exon3:c.G1809T:p.E603D, chr19 53409766 53409766 C A het . 19 +line41012 synonymous SNV ZNF888:NM_001310127:exon3:c.A1599G:p.Q533Q, chr19 53409976 53409976 T C het . 2 +line41023 synonymous SNV ERVV-2:NM_001191055:exon2:c.G1182A:p.E394E, chr19 53553686 53553686 G A het . 9 +line41028 nonsynonymous SNV ZNF160:NM_001322125:exon5:c.C245G:p.P82R,ZNF160:NM_001322131:exon5:c.C245G:p.P82R,ZNF160:NM_001322136:exon4:c.C245G:p.P82R,ZNF160:NM_001322129:exon5:c.C245G:p.P82R,ZNF160:NM_001322139:exon8:c.C137G:p.P46R,ZNF160:NM_033288:exon5:c.C245G:p.P82R,ZNF160:NM_001322130:exon6:c.C245G:p.P82R,ZNF160:NM_001322138:exon6:c.C137G:p.P46R,ZNF160:NM_001322133:exon6:c.C245G:p.P82R,ZNF160:NM_001322134:exon6:c.C245G:p.P82R,ZNF160:NM_001322132:exon6:c.C245G:p.P82R,ZNF160:NM_001322126:exon6:c.C245G:p.P82R,ZNF160:NM_001102603:exon6:c.C245G:p.P82R,ZNF160:NM_198893:exon6:c.C245G:p.P82R,ZNF160:NM_001322135:exon5:c.C245G:p.P82R,ZNF160:NM_001322137:exon7:c.C137G:p.P46R,ZNF160:NM_001322128:exon6:c.C245G:p.P82R, chr19 53577419 53577419 G C het . 18 +line41031 synonymous SNV ZNF415:NM_001352130:exon6:c.A1218G:p.T406T,ZNF415:NM_001352140:exon5:c.A1023G:p.T341T,ZNF415:NM_001352144:exon5:c.A987G:p.T329T,ZNF415:NM_001352150:exon3:c.A297G:p.T99T,ZNF415:NM_001352139:exon5:c.A1023G:p.T341T,ZNF415:NM_001352141:exon5:c.A1023G:p.T341T,ZNF415:NM_001352137:exon5:c.A1095G:p.T365T,ZNF415:NM_001352142:exon4:c.A987G:p.T329T,ZNF415:NM_001352133:exon6:c.A1131G:p.T377T,ZNF415:NM_018355:exon4:c.A987G:p.T329T,ZNF415:NM_001352146:exon5:c.A987G:p.T329T,ZNF415:NM_001352151:exon4:c.A297G:p.T99T,ZNF415:NM_001136038:exon4:c.A987G:p.T329T,ZNF415:NM_001352135:exon4:c.A1125G:p.T375T,ZNF415:NM_001352148:exon5:c.A948G:p.T316T,ZNF415:NM_001330766:exon7:c.A1131G:p.T377T,ZNF415:NM_001352132:exon6:c.A1131G:p.T377T,ZNF415:NM_001352143:exon4:c.A987G:p.T329T,ZNF415:NM_001352134:exon6:c.A1131G:p.T377T,ZNF415:NM_001352149:exon6:c.A948G:p.T316T,ZNF415:NM_001352147:exon5:c.A948G:p.T316T,ZNF415:NM_001352131:exon6:c.A1218G:p.T406T,ZNF415:NM_001330759:exon3:c.A297G:p.T99T,ZNF415:NM_001352138:exon5:c.A1023G:p.T341T,ZNF415:NM_001352136:exon5:c.A1095G:p.T365T,ZNF415:NM_001164309:exon4:c.A987G:p.T329T, chr19 53612311 53612311 T C het . 11 +line41032 nonsynonymous SNV ZNF415:NM_001352130:exon6:c.A784G:p.I262V,ZNF415:NM_001352140:exon5:c.A589G:p.I197V,ZNF415:NM_001352144:exon5:c.A553G:p.I185V,ZNF415:NM_001352139:exon5:c.A589G:p.I197V,ZNF415:NM_001352141:exon5:c.A589G:p.I197V,ZNF415:NM_001352137:exon5:c.A661G:p.I221V,ZNF415:NM_001352142:exon4:c.A553G:p.I185V,ZNF415:NM_001352133:exon6:c.A697G:p.I233V,ZNF415:NM_018355:exon4:c.A553G:p.I185V,ZNF415:NM_001352146:exon5:c.A553G:p.I185V,ZNF415:NM_001136038:exon4:c.A553G:p.I185V,ZNF415:NM_001352135:exon4:c.A691G:p.I231V,ZNF415:NM_001352148:exon5:c.A514G:p.I172V,ZNF415:NM_001330766:exon7:c.A697G:p.I233V,ZNF415:NM_001352132:exon6:c.A697G:p.I233V,ZNF415:NM_001352143:exon4:c.A553G:p.I185V,ZNF415:NM_001352134:exon6:c.A697G:p.I233V,ZNF415:NM_001352149:exon6:c.A514G:p.I172V,ZNF415:NM_001352147:exon5:c.A514G:p.I172V,ZNF415:NM_001352131:exon6:c.A784G:p.I262V,ZNF415:NM_001352138:exon5:c.A589G:p.I197V,ZNF415:NM_001352136:exon5:c.A661G:p.I221V,ZNF415:NM_001164309:exon4:c.A553G:p.I185V, chr19 53612745 53612745 T C het . 19 +line41033 nonsynonymous SNV ZNF415:NM_001352130:exon6:c.A772C:p.I258L,ZNF415:NM_001352140:exon5:c.A577C:p.I193L,ZNF415:NM_001352144:exon5:c.A541C:p.I181L,ZNF415:NM_001352139:exon5:c.A577C:p.I193L,ZNF415:NM_001352141:exon5:c.A577C:p.I193L,ZNF415:NM_001352137:exon5:c.A649C:p.I217L,ZNF415:NM_001352142:exon4:c.A541C:p.I181L,ZNF415:NM_001352133:exon6:c.A685C:p.I229L,ZNF415:NM_018355:exon4:c.A541C:p.I181L,ZNF415:NM_001352146:exon5:c.A541C:p.I181L,ZNF415:NM_001136038:exon4:c.A541C:p.I181L,ZNF415:NM_001352135:exon4:c.A679C:p.I227L,ZNF415:NM_001352148:exon5:c.A502C:p.I168L,ZNF415:NM_001330766:exon7:c.A685C:p.I229L,ZNF415:NM_001352132:exon6:c.A685C:p.I229L,ZNF415:NM_001352143:exon4:c.A541C:p.I181L,ZNF415:NM_001352134:exon6:c.A685C:p.I229L,ZNF415:NM_001352149:exon6:c.A502C:p.I168L,ZNF415:NM_001352147:exon5:c.A502C:p.I168L,ZNF415:NM_001352131:exon6:c.A772C:p.I258L,ZNF415:NM_001352138:exon5:c.A577C:p.I193L,ZNF415:NM_001352136:exon5:c.A649C:p.I217L,ZNF415:NM_001164309:exon4:c.A541C:p.I181L, chr19 53612757 53612757 T G het . 13 +line41039 nonsynonymous SNV ZNF347:NM_001172675:exon5:c.A793G:p.N265D,ZNF347:NM_001172674:exon5:c.A793G:p.N265D,ZNF347:NM_032584:exon5:c.A790G:p.N264D, chr19 53645291 53645291 T C het . 38 +line41045 nonsynonymous SNV ZNF665:NM_001353457:exon5:c.G1933A:p.V645I,ZNF665:NM_001353459:exon4:c.G1939A:p.V647I,ZNF665:NM_001353458:exon5:c.G2023A:p.V675I,ZNF665:NM_024733:exon4:c.G1939A:p.V647I, chr19 53667804 53667804 C T het . 9 +line41046 synonymous SNV ZNF665:NM_001353457:exon5:c.T1824C:p.N608N,ZNF665:NM_001353459:exon4:c.T1830C:p.N610N,ZNF665:NM_001353458:exon5:c.T1914C:p.N638N,ZNF665:NM_024733:exon4:c.T1830C:p.N610N, chr19 53667913 53667913 A G het . 14 +line41047 synonymous SNV ZNF665:NM_001353457:exon5:c.T1797C:p.N599N,ZNF665:NM_001353459:exon4:c.T1803C:p.N601N,ZNF665:NM_001353458:exon5:c.T1887C:p.N629N,ZNF665:NM_024733:exon4:c.T1803C:p.N601N, chr19 53667940 53667940 A G het . 14 +line41048 nonsynonymous SNV ZNF665:NM_001353457:exon5:c.A1040G:p.N347S,ZNF665:NM_001353459:exon4:c.A1046G:p.N349S,ZNF665:NM_001353458:exon5:c.A1130G:p.N377S,ZNF665:NM_024733:exon4:c.A1046G:p.N349S, chr19 53668697 53668697 T C het . 19 +line41049 nonsynonymous SNV ZNF665:NM_001353457:exon5:c.A464G:p.H155R,ZNF665:NM_001353459:exon4:c.A470G:p.H157R,ZNF665:NM_001353458:exon5:c.A554G:p.H185R,ZNF665:NM_024733:exon4:c.A470G:p.H157R, chr19 53669273 53669273 T C het . 23 +line41050 nonsynonymous SNV ZNF665:NM_001353457:exon5:c.T245C:p.V82A,ZNF665:NM_001353459:exon4:c.T251C:p.V84A,ZNF665:NM_001353458:exon5:c.T335C:p.V112A,ZNF665:NM_024733:exon4:c.T251C:p.V84A, chr19 53669492 53669492 A G het . 16 +line41066 synonymous SNV ZNF677:NM_182609:exon5:c.A1158G:p.E386E,ZNF677:NM_001317998:exon5:c.A1158G:p.E386E, chr19 53740822 53740822 T C het . 19 +line41067 synonymous SNV ZNF677:NM_182609:exon5:c.G912A:p.S304S,ZNF677:NM_001317998:exon5:c.G912A:p.S304S, chr19 53741068 53741068 C T het . 14 +line41068 synonymous SNV ZNF677:NM_182609:exon5:c.G792A:p.K264K,ZNF677:NM_001317998:exon5:c.G792A:p.K264K, chr19 53741188 53741188 C T het . 20 +line41072 nonsynonymous SNV VN1R2:NM_173856:exon1:c.T112C:p.C38R, chr19 53761740 53761740 T C het . 6 +line41073 synonymous SNV VN1R2:NM_173856:exon1:c.C909T:p.L303L, chr19 53762537 53762537 C T het . 13 +line41079 nonsynonymous SNV BIRC8:NM_033341:exon1:c.C586T:p.H196Y, chr19 53793042 53793042 G A het . 22 +line41080 synonymous SNV BIRC8:NM_033341:exon1:c.T54C:p.V18V, chr19 53793574 53793574 A G het . 16 +line41090 nonsynonymous SNV ZNF845:NM_001321522:exon5:c.G2045T:p.R682L,ZNF845:NM_001321524:exon5:c.G2045T:p.R682L,ZNF845:NM_001321523:exon5:c.G2045T:p.R682L,ZNF845:NM_138374:exon4:c.G2045T:p.R682L, chr19 53855973 53855973 G T het . 31 +line41091 nonsynonymous SNV ZNF845:NM_001321522:exon5:c.A2421T:p.E807D,ZNF845:NM_001321524:exon5:c.A2421T:p.E807D,ZNF845:NM_001321523:exon5:c.A2421T:p.E807D,ZNF845:NM_138374:exon4:c.A2421T:p.E807D, chr19 53856349 53856349 A T het . 31 +line41093 nonsynonymous SNV ZNF525:NM_001348156:exon4:c.G580A:p.D194N,ZNF525:NM_001348157:exon4:c.G472A:p.D158N, chr19 53884412 53884412 G A het . 26 +line41101 synonymous SNV ZNF765:NM_001040185:exon4:c.G702A:p.Q234Q,ZNF765:NM_001350495:exon3:c.G543A:p.Q181Q, chr19 53911510 53911510 G A het . 25 +line41102 synonymous SNV ZNF765:NM_001040185:exon4:c.G1434A:p.T478T,ZNF765:NM_001350495:exon3:c.G1275A:p.T425T, chr19 53912242 53912242 G A het . 25 +line41122 nonsynonymous SNV ZNF761:NM_001289951:exon6:c.T365G:p.I122S,ZNF761:NM_001008401:exon7:c.T365G:p.I122S,ZNF761:NM_001289952:exon6:c.T365G:p.I122S,ZNF765-ZNF761:NM_001350496:exon14:c.T365G:p.I122S, chr19 53958126 53958126 T G het . 30 +line41123 nonsynonymous SNV ZNF761:NM_001289951:exon6:c.G502A:p.V168I,ZNF761:NM_001008401:exon7:c.G502A:p.V168I,ZNF761:NM_001289952:exon6:c.G502A:p.V168I,ZNF765-ZNF761:NM_001350496:exon14:c.G502A:p.V168I, chr19 53958263 53958263 G A het . 35 +line41124 nonsynonymous SNV ZNF761:NM_001289951:exon6:c.G1582A:p.G528S,ZNF761:NM_001008401:exon7:c.G1582A:p.G528S,ZNF761:NM_001289952:exon6:c.G1582A:p.G528S,ZNF765-ZNF761:NM_001350496:exon14:c.G1582A:p.G528S, chr19 53959343 53959343 G A het . 23 +line41125 nonsynonymous SNV ZNF761:NM_001289951:exon6:c.G1807C:p.E603Q,ZNF761:NM_001008401:exon7:c.G1807C:p.E603Q,ZNF761:NM_001289952:exon6:c.G1807C:p.E603Q,ZNF765-ZNF761:NM_001350496:exon14:c.G1807C:p.E603Q, chr19 53959568 53959568 G C het . 10 +line41134 nonsynonymous SNV ZNF813:NM_001004301:exon4:c.G184A:p.A62T, chr19 53993670 53993670 G A het . 18 +line41135 synonymous SNV ZNF813:NM_001004301:exon4:c.G1518A:p.R506R, chr19 53995004 53995004 G A het . 27 +line41144 synonymous SNV ZNF331:NM_001317121:exon5:c.A330G:p.R110R,ZNF331:NM_001317114:exon6:c.A330G:p.R110R,ZNF331:NM_001253800:exon6:c.A330G:p.R110R,ZNF331:NM_001317120:exon7:c.A330G:p.R110R,ZNF331:NM_001317115:exon7:c.A330G:p.R110R,ZNF331:NM_001253799:exon6:c.A330G:p.R110R,ZNF331:NM_001253798:exon7:c.A330G:p.R110R,ZNF331:NM_001317117:exon6:c.A330G:p.R110R,ZNF331:NM_001079907:exon6:c.A330G:p.R110R,ZNF331:NM_001317113:exon5:c.A330G:p.R110R,ZNF331:NM_018555:exon7:c.A330G:p.R110R,ZNF331:NM_001317116:exon5:c.A330G:p.R110R,ZNF331:NM_001317118:exon6:c.A330G:p.R110R,ZNF331:NM_001253801:exon5:c.A330G:p.R110R,ZNF331:NM_001317119:exon5:c.A330G:p.R110R,ZNF331:NM_001079906:exon6:c.A330G:p.R110R, chr19 54080144 54080144 A G het . 19 +line41152 stopgain DPRX:NM_001012728:exon3:c.C402A:p.Y134X, chr19 54140068 54140068 C A het . 17 +line41212 nonsynonymous SNV NLRP12:NM_144687:exon6:c.C2575T:p.R859W,NLRP12:NM_001277129:exon6:c.C2575T:p.R859W,NLRP12:NM_001277126:exon6:c.C2578T:p.R860W, chr19 54307216 54307216 G A het . 36 +line41213 synonymous SNV NLRP12:NM_144687:exon6:c.C2469T:p.L823L,NLRP12:NM_001277129:exon6:c.C2469T:p.L823L,NLRP12:NM_001277126:exon6:c.C2472T:p.L824L, chr19 54307322 54307322 G A het . 33 +line41214 synonymous SNV NLRP12:NM_144687:exon5:c.G2394A:p.Q798Q,NLRP12:NM_001277129:exon5:c.G2394A:p.Q798Q,NLRP12:NM_001277126:exon5:c.G2397A:p.Q799Q, chr19 54308554 54308554 C T het . 40 +line41223 synonymous SNV PRKCG:NM_002739:exon1:c.C72T:p.A24A,PRKCG:NM_001316329:exon1:c.C72T:p.A24A, chr19 54385820 54385820 C T het . 15 +line41232 nonsynonymous SNV VSTM1:NM_001288793:exon2:c.A127G:p.S43G,VSTM1:NM_001288791:exon5:c.A223G:p.S75G,VSTM1:NM_198481:exon5:c.A487G:p.S163G, chr19 54545531 54545531 T C het . 19 +line41239 nonsynonymous SNV OSCAR:NM_133169:exon4:c.T290G:p.I97S,OSCAR:NM_130771:exon5:c.T302G:p.I101S,OSCAR:NM_001282350:exon3:c.T257G:p.I86S,OSCAR:NM_133168:exon3:c.T257G:p.I86S,OSCAR:NM_001282349:exon4:c.T290G:p.I97S,OSCAR:NM_206818:exon5:c.T302G:p.I101S, chr19 54600232 54600232 A C het . 28 +line41244 synonymous SNV TFPT:NM_001321792:exon5:c.G417A:p.T139T,TFPT:NM_013342:exon5:c.G444A:p.T148T, chr19 54611531 54611531 C T het . 4 +line41257 synonymous SNV CNOT3:NM_014516:exon9:c.T729C:p.P243P, chr19 54649671 54649671 T C het . 4 +line41260 synonymous SNV MBOAT7:NM_001146056:exon6:c.A1179G:p.P393P,MBOAT7:NM_001146083:exon7:c.A1179G:p.P393P,MBOAT7:NM_024298:exon8:c.A1398G:p.P466P, chr19 54677759 54677759 T C het . 4 +line41261 synonymous SNV MBOAT7:NM_001146056:exon4:c.C516T:p.F172F,MBOAT7:NM_001146083:exon5:c.C516T:p.F172F,MBOAT7:NM_001146082:exon6:c.C735T:p.F245F,MBOAT7:NM_024298:exon6:c.C735T:p.F245F, chr19 54684609 54684609 G A het . 16 +line41263 synonymous SNV TSEN34:NM_001282333:exon5:c.C804T:p.P268P,TSEN34:NM_001282332:exon5:c.C795T:p.P265P,TSEN34:NM_001077446:exon4:c.C795T:p.P265P,TSEN34:NM_024075:exon5:c.C795T:p.P265P, chr19 54697079 54697079 C T het . 13 +line41281 nonsynonymous SNV LILRB5:NM_006840:exon12:c.G1625C:p.R542P,LILRB5:NM_001081442:exon12:c.G1628C:p.R543P,LILRB5:NM_001081443:exon11:c.G1328C:p.R443P, chr19 54755918 54755918 C G het . 10 +line41295 nonsynonymous SNV LILRB2:NM_001278403:exon6:c.G703A:p.V235M,LILRB2:NM_001278406:exon5:c.G703A:p.V235M,LILRB2:NM_001080978:exon6:c.G703A:p.V235M,LILRB2:NM_001278404:exon5:c.G355A:p.V119M,LILRB2:NM_005874:exon6:c.G703A:p.V235M,LILRB2:NM_001278405:exon5:c.G703A:p.V235M, chr19 54782919 54782919 C T het . 5 +line41296 nonsynonymous SNV LILRB2:NM_001278403:exon5:c.A483T:p.E161D,LILRB2:NM_001278406:exon4:c.A483T:p.E161D,LILRB2:NM_001080978:exon5:c.A483T:p.E161D,LILRB2:NM_001278404:exon4:c.A135T:p.E45D,LILRB2:NM_005874:exon5:c.A483T:p.E161D,LILRB2:NM_001278405:exon4:c.A483T:p.E161D, chr19 54783375 54783375 T A het . 10 +line41297 synonymous SNV LILRB2:NM_001278403:exon4:c.T78C:p.I26I,LILRB2:NM_001278406:exon3:c.T78C:p.I26I,LILRB2:NM_001080978:exon4:c.T78C:p.I26I,LILRB2:NM_005874:exon4:c.T78C:p.I26I,LILRB2:NM_001278405:exon3:c.T78C:p.I26I, chr19 54783923 54783923 A G het . 7 +line41317 synonymous SNV LENG8:NM_052925:exon8:c.C858G:p.P286P, chr19 54966579 54966579 C G het . 22 +line41319 nonframeshift deletion LENG9:NM_198988:exon1:c.785_787del:p.262_263del,LENG9:NM_001301782:exon1:c.719_721del:p.240_241del, chr19 54973989 54973991 CCT - het . 28 +line41320 nonsynonymous SNV LENG9:NM_198988:exon1:c.A458G:p.H153R,LENG9:NM_001301782:exon1:c.A392G:p.H131R, chr19 54974318 54974318 T C het . 14 +line41333 synonymous SNV LILRA2:NM_001290271:exon4:c.T228G:p.P76P,LILRA2:NM_001130917:exon3:c.T228G:p.P76P,LILRA2:NM_001290270:exon2:c.T192G:p.P64P,LILRA2:NM_006866:exon4:c.T228G:p.P76P, chr19 55085925 55085925 T G het . 28 +line41334 synonymous SNV LILRA2:NM_001290271:exon6:c.C708T:p.P236P,LILRA2:NM_001130917:exon5:c.C708T:p.P236P,LILRA2:NM_001290270:exon4:c.C672T:p.P224P,LILRA2:NM_006866:exon6:c.C708T:p.P236P, chr19 55086775 55086775 C T het . 9 +line41335 nonsynonymous SNV LILRA2:NM_001290271:exon7:c.T992G:p.V331G,LILRA2:NM_001130917:exon6:c.T992G:p.V331G,LILRA2:NM_001290270:exon5:c.T956G:p.V319G,LILRA2:NM_006866:exon7:c.T992G:p.V331G, chr19 55087313 55087313 T G het . 8 +line41336 synonymous SNV LILRA1:NM_001278319:exon2:c.C52A:p.R18R,LILRA1:NM_006863:exon3:c.C52A:p.R18R,LILRA1:NM_001278318:exon3:c.C52A:p.R18R, chr19 55105923 55105923 C A het . 13 +line41337 synonymous SNV LILRA1:NM_001278319:exon3:c.A258G:p.P86P,LILRA1:NM_006863:exon4:c.A258G:p.P86P,LILRA1:NM_001278318:exon4:c.A258G:p.P86P, chr19 55106317 55106317 A G het . 19 +line41338 nonsynonymous SNV LILRA1:NM_001278319:exon4:c.A457G:p.S153G,LILRA1:NM_006863:exon5:c.A457G:p.S153G,LILRA1:NM_001278318:exon5:c.A457G:p.S153G, chr19 55106663 55106663 A G het . 20 +line41339 synonymous SNV LILRA1:NM_001278319:exon4:c.G567A:p.P189P,LILRA1:NM_006863:exon5:c.G567A:p.P189P,LILRA1:NM_001278318:exon5:c.G567A:p.P189P, chr19 55106773 55106773 G A het . 14 +line41340 nonsynonymous SNV LILRA1:NM_001278319:exon6:c.G1159T:p.V387L,LILRA1:NM_006863:exon7:c.G1159T:p.V387L, chr19 55107854 55107854 G T het . 22 +line41342 nonsynonymous SNV LILRB1:NM_001278398:exon5:c.G464T:p.S155I,LILRB1:NM_001081638:exon5:c.G464T:p.S155I,LILRB1:NM_001081639:exon5:c.G464T:p.S155I,LILRB1:NM_001081637:exon5:c.G464T:p.S155I,LILRB1:NM_006669:exon6:c.G464T:p.S155I,LILRB1:NM_001278399:exon5:c.G464T:p.S155I, chr19 55143491 55143491 G T het . 10 +line41343 synonymous SNV LILRB1:NM_001278398:exon6:c.T729C:p.T243T,LILRB1:NM_001081638:exon6:c.T729C:p.T243T,LILRB1:NM_001081639:exon6:c.T729C:p.T243T,LILRB1:NM_001081637:exon6:c.T729C:p.T243T,LILRB1:NM_006669:exon7:c.T729C:p.T243T,LILRB1:NM_001278399:exon6:c.T729C:p.T243T, chr19 55143982 55143982 T C het . 6 +line41344 nonsynonymous SNV LILRB1:NM_001278398:exon7:c.C1115T:p.T372M,LILRB1:NM_001081638:exon7:c.C1115T:p.T372M,LILRB1:NM_001081639:exon7:c.C1115T:p.T372M,LILRB1:NM_001081637:exon7:c.C1115T:p.T372M,LILRB1:NM_006669:exon8:c.C1115T:p.T372M,LILRB1:NM_001278399:exon7:c.C1115T:p.T372M, chr19 55144623 55144623 C T het . 34 +line41345 synonymous SNV LILRB1:NM_001278398:exon7:c.G1176A:p.A392A,LILRB1:NM_001081638:exon7:c.G1176A:p.A392A,LILRB1:NM_001081639:exon7:c.G1176A:p.A392A,LILRB1:NM_001081637:exon7:c.G1176A:p.A392A,LILRB1:NM_006669:exon8:c.G1176A:p.A392A,LILRB1:NM_001278399:exon7:c.G1176A:p.A392A, chr19 55144684 55144684 G A het . 21 +line41346 synonymous SNV LILRB1:NM_001081638:exon8:c.G1266C:p.P422P,LILRB1:NM_001081639:exon8:c.G1266C:p.P422P,LILRB1:NM_001081637:exon8:c.G1266C:p.P422P,LILRB1:NM_006669:exon9:c.G1266C:p.P422P,LILRB1:NM_001278399:exon8:c.G1266C:p.P422P, chr19 55145093 55145093 G C het . 8 +line41347 nonsynonymous SNV LILRB1:NM_001278398:exon8:c.G1294A:p.G432R,LILRB1:NM_001081638:exon9:c.G1345A:p.G449R,LILRB1:NM_001081639:exon9:c.G1342A:p.G448R,LILRB1:NM_001081637:exon9:c.G1345A:p.G449R,LILRB1:NM_006669:exon10:c.G1342A:p.G448R,LILRB1:NM_001278399:exon9:c.G1345A:p.G449R, chr19 55145454 55145454 G A het . 5 +line41352 synonymous SNV LILRB1:NM_001278398:exon14:c.C1818T:p.L606L,LILRB1:NM_001081638:exon15:c.C1869T:p.L623L,LILRB1:NM_001081639:exon15:c.C1869T:p.L623L,LILRB1:NM_001081637:exon15:c.C1872T:p.L624L,LILRB1:NM_006669:exon16:c.C1866T:p.L622L, chr19 55148242 55148242 C T het . 8 +line41353 synonymous SNV LILRB1:NM_001278398:exon14:c.C1875A:p.P625P,LILRB1:NM_001081638:exon15:c.C1926A:p.P642P,LILRB1:NM_001081639:exon15:c.C1926A:p.P642P,LILRB1:NM_001081637:exon15:c.C1929A:p.P643P,LILRB1:NM_006669:exon16:c.C1923A:p.P641P, chr19 55148299 55148299 C A het . 10 +line41358 nonsynonymous SNV LILRB4:NM_001278428:exon1:c.T13C:p.F5L,LILRB4:NM_001278426:exon1:c.T13C:p.F5L,LILRB4:NM_001278429:exon1:c.T136C:p.F46L,LILRB4:NM_001278427:exon1:c.T13C:p.F5L,LILRB4:NM_001278430:exon1:c.T13C:p.F5L, chr19 55174498 55174498 T C het . 8 +line41359 synonymous SNV LILRB4:NM_001278428:exon4:c.C459T:p.F153F,LILRB4:NM_001278426:exon4:c.C459T:p.F153F,LILRB4:NM_001278429:exon3:c.C546T:p.F182F,LILRB4:NM_001278427:exon4:c.C459T:p.F153F,LILRB4:NM_001278430:exon4:c.C459T:p.F153F, chr19 55175740 55175740 C T het . 15 +line41360 nonsynonymous SNV LILRB4:NM_001278428:exon5:c.A668G:p.D223G,LILRB4:NM_001278426:exon5:c.A668G:p.D223G,LILRB4:NM_001278429:exon4:c.A755G:p.D252G,LILRB4:NM_001278427:exon5:c.A668G:p.D223G,LILRB4:NM_001278430:exon5:c.A668G:p.D223G, chr19 55176262 55176262 A G het . 5 +line41361 nonsynonymous SNV LILRB4:NM_001278428:exon12:c.A1241G:p.Q414R,LILRB4:NM_001278426:exon12:c.A1241G:p.Q414R,LILRB4:NM_001278429:exon11:c.A1331G:p.Q444R,LILRB4:NM_001278427:exon12:c.A1238G:p.Q413R, chr19 55179364 55179364 A G het . 15 +line41369 synonymous SNV KIR2DL3:NM_015868:exon6:c.G741C:p.L247L, chr19 55263126 55263126 G C het . 17 +line41371 nonsynonymous SNV KIR3DL1:NM_001322168:exon3:c.A193G:p.R65G,KIR3DL1:NM_013289:exon3:c.A193G:p.R65G, chr19 55329892 55329892 A G het . 11 +line41372 nonsynonymous SNV KIR3DL1:NM_001322168:exon4:c.C607T:p.P203S,KIR3DL1:NM_013289:exon4:c.C607T:p.P203S, chr19 55331419 55331419 C T het . 4 +line41376 nonsynonymous SNV KIR3DL1:NM_001322168:exon7:c.G1091A:p.C364Y,KIR3DL1:NM_013289:exon7:c.G1091A:p.C364Y, chr19 55340906 55340906 G A het . 21 +line41381 nonsynonymous SNV KIR2DS4:NM_001281972:exon3:c.G71A:p.G24E,KIR2DS4:NM_001281971:exon3:c.G71A:p.G24E, chr19 55349031 55349031 G A het . 7 +line41382 nonsynonymous SNV KIR2DS4:NM_001281972:exon3:c.C313A:p.P105T,KIR2DS4:NM_001281971:exon3:c.C313A:p.P105T, chr19 55349273 55349273 C A het . 13 +line41383 nonsynonymous SNV KIR2DS4:NM_001281972:exon4:c.A467G:p.K156R,KIR2DS4:NM_001281971:exon4:c.A467G:p.K156R, chr19 55350979 55350979 A G het . 19 +line41387 synonymous SNV FCAR:NM_133278:exon2:c.A288G:p.R96R,FCAR:NM_133274:exon2:c.A288G:p.R96R,FCAR:NM_133269:exon3:c.A324G:p.R108R,FCAR:NM_133271:exon3:c.A324G:p.R108R,FCAR:NM_133272:exon2:c.A288G:p.R96R,FCAR:NM_133273:exon2:c.A288G:p.R96R,FCAR:NM_002000:exon3:c.A324G:p.R108R, chr19 55396900 55396900 A G het . 10 +line41390 nonsynonymous SNV FCAR:NM_133278:exon4:c.A703G:p.S235G,FCAR:NM_133277:exon3:c.A478G:p.S160G,FCAR:NM_133269:exon5:c.A739G:p.S247G,FCAR:NM_133271:exon4:c.A517G:p.S173G,FCAR:NM_133272:exon4:c.A769G:p.S257G,FCAR:NM_133273:exon3:c.A481G:p.S161G,FCAR:NM_002000:exon5:c.A805G:p.S269G, chr19 55401170 55401170 A G het . 12 +line41396 synonymous SNV NLRP7:NM_206828:exon9:c.A2775G:p.A925A,NLRP7:NM_139176:exon9:c.A2691G:p.A897A,NLRP7:NM_001127255:exon9:c.A2775G:p.A925A, chr19 55441902 55441902 T C het . 26 +line41397 synonymous SNV NLRP7:NM_206828:exon9:c.T2682C:p.Y894Y,NLRP7:NM_139176:exon9:c.T2598C:p.Y866Y,NLRP7:NM_001127255:exon9:c.T2682C:p.Y894Y, chr19 55441995 55441995 A G het . 25 +line41401 synonymous SNV NLRP7:NM_206828:exon4:c.C1491T:p.I497I,NLRP7:NM_139176:exon4:c.C1491T:p.I497I,NLRP7:NM_001127255:exon4:c.C1491T:p.I497I, chr19 55450696 55450696 G A het . 19 +line41402 nonsynonymous SNV NLRP7:NM_206828:exon4:c.G1460A:p.G487E,NLRP7:NM_139176:exon4:c.G1460A:p.G487E,NLRP7:NM_001127255:exon4:c.G1460A:p.G487E, chr19 55450727 55450727 C T het . 11 +line41403 synonymous SNV NLRP7:NM_206828:exon4:c.G390A:p.Q130Q,NLRP7:NM_139176:exon4:c.G390A:p.Q130Q,NLRP7:NM_001127255:exon4:c.G390A:p.Q130Q, chr19 55451797 55451797 C T het . 38 +line41416 synonymous SNV NLRP2:NM_001174082:exon5:c.C519T:p.F173F,NLRP2:NM_001348003:exon6:c.C576T:p.F192F,NLRP2:NM_001174083:exon7:c.C516T:p.F172F,NLRP2:NM_001174081:exon6:c.C585T:p.F195F,NLRP2:NM_017852:exon6:c.C585T:p.F195F, chr19 55493651 55493651 C T het . 4 +line41417 nonsynonymous SNV NLRP2:NM_001174082:exon5:c.A994G:p.I332V,NLRP2:NM_001348003:exon6:c.A1051G:p.I351V,NLRP2:NM_001174083:exon7:c.A991G:p.I331V,NLRP2:NM_001174081:exon6:c.A1060G:p.I354V,NLRP2:NM_017852:exon6:c.A1060G:p.I354V, chr19 55494126 55494126 A G het . 6 +line41418 synonymous SNV NLRP2:NM_001174082:exon5:c.A1500G:p.E500E,NLRP2:NM_001348003:exon6:c.A1557G:p.E519E,NLRP2:NM_001174083:exon7:c.A1497G:p.E499E,NLRP2:NM_001174081:exon6:c.A1566G:p.E522E,NLRP2:NM_017852:exon6:c.A1566G:p.E522E, chr19 55494632 55494632 A G het . 16 +line41419 synonymous SNV NLRP2:NM_001174082:exon5:c.T1608C:p.F536F,NLRP2:NM_001348003:exon6:c.T1665C:p.F555F,NLRP2:NM_001174083:exon7:c.T1605C:p.F535F,NLRP2:NM_001174081:exon6:c.T1674C:p.F558F,NLRP2:NM_017852:exon6:c.T1674C:p.F558F, chr19 55494740 55494740 T C het . 21 +line41427 synonymous SNV NLRP2:NM_001174082:exon12:c.C2994A:p.I998I,NLRP2:NM_001348003:exon13:c.C3051A:p.I1017I,NLRP2:NM_001174083:exon14:c.C2991A:p.I997I,NLRP2:NM_001174081:exon13:c.C3060A:p.I1020I,NLRP2:NM_017852:exon13:c.C3060A:p.I1020I, chr19 55512137 55512137 C A het . 35 +line41428 nonsynonymous SNV NLRP2:NM_001174082:exon12:c.C3089A:p.A1030E,NLRP2:NM_001348003:exon13:c.C3146A:p.A1049E,NLRP2:NM_001174083:exon14:c.C3086A:p.A1029E,NLRP2:NM_001174081:exon13:c.C3155A:p.A1052E,NLRP2:NM_017852:exon13:c.C3155A:p.A1052E, chr19 55512232 55512232 C A het . 33 +line41435 nonsynonymous SNV GP6:NM_001083899:exon8:c.T1816C:p.F606L, chr19 55525497 55525497 A G het . 15 +line41436 nonsynonymous SNV GP6:NM_001083899:exon8:c.A1717G:p.R573G, chr19 55525596 55525596 T C het . 23 +line41437 synonymous SNV GP6:NM_001083899:exon8:c.C1419T:p.P473P, chr19 55525894 55525894 G A het . 18 +line41438 nonsynonymous SNV GP6:NM_016363:exon8:c.A964C:p.N322H,GP6:NM_001256017:exon7:c.A910C:p.N304H,GP6:NM_001083899:exon8:c.A968C:p.K323T, chr19 55526345 55526345 T G het . 15 +line41439 nonsynonymous SNV GP6:NM_016363:exon8:c.T950A:p.L317Q,GP6:NM_001256017:exon7:c.T896A:p.L299Q, chr19 55526359 55526359 A T het . 14 +line41440 nonsynonymous SNV GP6:NM_001083899:exon8:c.C940G:p.P314A, chr19 55526373 55526373 G C het . 12 +line41441 nonsynonymous SNV GP6:NM_016363:exon7:c.G745A:p.A249T,GP6:NM_001256017:exon6:c.G691A:p.A231T,GP6:NM_001083899:exon7:c.G745A:p.A249T, chr19 55527081 55527081 C T het . 24 +line41444 nonsynonymous SNV GP6:NM_016363:exon6:c.G709A:p.E237K,GP6:NM_001256017:exon5:c.G655A:p.E219K,GP6:NM_001083899:exon6:c.G709A:p.E237K, chr19 55530035 55530035 C T het . 34 +line41446 nonsynonymous SNV GP6:NM_016363:exon5:c.C655T:p.P219S,GP6:NM_001083899:exon5:c.C655T:p.P219S, chr19 55536595 55536595 G A het . 30 +line41448 synonymous SNV GP6:NM_016363:exon4:c.A576G:p.S192S,GP6:NM_001256017:exon4:c.A576G:p.S192S,GP6:NM_001083899:exon4:c.A576G:p.S192S, chr19 55538980 55538980 T C het . 10 +line41449 synonymous SNV GP6:NM_016363:exon4:c.T495C:p.F165F,GP6:NM_001256017:exon4:c.T495C:p.F165F,GP6:NM_001083899:exon4:c.T495C:p.F165F, chr19 55539061 55539061 A G het . 14 +line41450 synonymous SNV GP6:NM_016363:exon4:c.A484C:p.R162R,GP6:NM_001256017:exon4:c.A484C:p.R162R,GP6:NM_001083899:exon4:c.A484C:p.R162R, chr19 55539072 55539072 T G het . 12 +line41451 synonymous SNV RDH13:NM_001145971:exon5:c.C640T:p.L214L,RDH13:NM_138412:exon6:c.C427T:p.L143L, chr19 55559715 55559715 G A het . 19 +line41455 synonymous SNV RDH13:NM_001145971:exon2:c.T135C:p.G45G, chr19 55570574 55570574 A G het . 17 +line41457 nonsynonymous SNV EPS8L1:NM_133180:exon2:c.G10A:p.A4T, chr19 55587822 55587822 G A het . 4 +line41460 nonsynonymous SNV EPS8L1:NM_133180:exon14:c.C1369G:p.Q457E,EPS8L1:NM_017729:exon9:c.C988G:p.Q330E, chr19 55594996 55594996 C G het . 8 +line41461 nonsynonymous SNV EPS8L1:NM_133180:exon19:c.A2006G:p.K669R,EPS8L1:NM_017729:exon14:c.A1625G:p.K542R, chr19 55598724 55598724 A G het . 7 +line41464 synonymous SNV TNNT1:NM_001126133:exon13:c.T714G:p.R238R,TNNT1:NM_003283:exon14:c.T795G:p.R265R,TNNT1:NM_001291774:exon14:c.T714G:p.R238R,TNNT1:NM_001126132:exon14:c.T747G:p.R249R, chr19 55644325 55644325 A C het . 27 +line41467 unknown UNKNOWN chr19 55665410 55665410 C T het . 23 +line41476 nonsynonymous SNV DNAAF3:NM_001256714:exon10:c.G1294A:p.D432N,DNAAF3:NM_178837:exon10:c.G1234A:p.D412N,DNAAF3:NM_001256715:exon10:c.G1093A:p.D365N,DNAAF3:NM_001256716:exon10:c.G931A:p.D311N, chr19 55671337 55671337 C T het . 17 +line41477 synonymous SNV DNAAF3:NM_001256714:exon10:c.G1257A:p.P419P,DNAAF3:NM_178837:exon10:c.G1197A:p.P399P,DNAAF3:NM_001256715:exon10:c.G1056A:p.P352P,DNAAF3:NM_001256716:exon10:c.G894A:p.P298P, chr19 55671374 55671374 C T het . 7 +line41478 nonsynonymous SNV DNAAF3:NM_001256714:exon8:c.A1079G:p.E360G,DNAAF3:NM_178837:exon8:c.A1016G:p.E339G,DNAAF3:NM_001256715:exon8:c.A875G:p.E292G,DNAAF3:NM_001256716:exon8:c.A713G:p.E238G, chr19 55672470 55672470 T C het . 25 +line41481 nonsynonymous SNV PTPRH:NM_002842:exon20:c.A3226G:p.I1076V,PTPRH:NM_001161440:exon18:c.A2692G:p.I898V, chr19 55693244 55693244 T C het . 21 +line41482 synonymous SNV PTPRH:NM_002842:exon17:c.C2895T:p.L965L,PTPRH:NM_001161440:exon15:c.C2361T:p.L787L, chr19 55697236 55697236 G A het . 9 +line41483 nonsynonymous SNV PTPRH:NM_002842:exon13:c.A2467G:p.K823E,PTPRH:NM_001161440:exon11:c.A1933G:p.K645E, chr19 55699454 55699454 T C het . 14 +line41485 nonsynonymous SNV PTPRH:NM_002842:exon12:c.G2343T:p.K781N,PTPRH:NM_001161440:exon10:c.G1809T:p.K603N, chr19 55702910 55702910 C A het . 23 +line41488 synonymous SNV PTPRH:NM_002842:exon9:c.T1918C:p.L640L,PTPRH:NM_001161440:exon7:c.T1384C:p.L462L, chr19 55708557 55708557 A G het . 17 +line41489 synonymous SNV PTPRH:NM_002842:exon4:c.T513C:p.T171T, chr19 55716800 55716800 A G het . 11 +line41491 synonymous SNV TMEM86B:NM_173804:exon3:c.C484T:p.L162L, chr19 55738746 55738746 G A het . 5 +line41492 synonymous SNV TMEM86B:NM_173804:exon2:c.G252A:p.S84S, chr19 55739605 55739605 C T het . 11 +line41493 synonymous SNV TMEM86B:NM_173804:exon2:c.C168T:p.P56P, chr19 55739689 55739689 G A het . 29 +line41497 synonymous SNV PPP6R1:NM_014931:exon3:c.T294C:p.A98A, chr19 55756980 55756980 A G het . 19 +line41498 nonframeshift insertion HSPBP1:NM_001297600:exon1:c.228_229insGGCGGCGGC:p.S77delinsGGGS,HSPBP1:NM_001130106:exon3:c.90_91insGGCGGCGGC:p.S31delinsGGGS,HSPBP1:NM_012267:exon2:c.90_91insGGCGGCGGC:p.S31delinsGGGS, chr19 55790886 55790886 - GCCGCCGCC het . 11 +line41499 synonymous SNV HSPBP1:NM_001297600:exon1:c.G24A:p.L8L, chr19 55791091 55791091 C T het . 13 +line41505 nonsynonymous SNV BRSK1:NM_032430:exon18:c.C2162T:p.S721F, chr19 55820079 55820079 C T het . 10 +line41506 nonsynonymous SNV TMEM150B:NM_001282011:exon8:c.A597C:p.L199F,TMEM150B:NM_001085488:exon8:c.A597C:p.L199F, chr19 55824332 55824332 T G het . 13 +line41516 nonsynonymous SNV FAM71E2:NM_001145402:exon9:c.C2132G:p.P711R, chr19 55870104 55870104 G C het . 6 +line41517 synonymous SNV FAM71E2:NM_001145402:exon9:c.G1947A:p.A649A, chr19 55870289 55870289 C T het . 8 +line41518 nonsynonymous SNV FAM71E2:NM_001145402:exon9:c.A1885G:p.K629E, chr19 55870351 55870351 T C het . 20 +line41519 nonsynonymous SNV FAM71E2:NM_001145402:exon9:c.G1636C:p.E546Q, chr19 55870600 55870600 C G het . 10 +line41520 nonsynonymous SNV FAM71E2:NM_001145402:exon9:c.T1217C:p.L406P, chr19 55871019 55871019 A G het . 14 +line41522 synonymous SNV FAM71E2:NM_001145402:exon6:c.T729C:p.A243A, chr19 55872397 55872397 A G het . 16 +line41524 synonymous SNV FAM71E2:NM_001145402:exon5:c.T630C:p.A210A, chr19 55872566 55872566 A G het . 15 +line41525 nonsynonymous SNV FAM71E2:NM_001145402:exon3:c.G535A:p.E179K, chr19 55873642 55873642 C T het . 2 +line41526 nonsynonymous SNV IL11:NM_001267718:exon3:c.G98A:p.R33H,IL11:NM_000641:exon4:c.G335A:p.R112H, chr19 55879672 55879672 C T het . 16 +line41527 synonymous SNV IL11:NM_001267718:exon2:c.G9A:p.A3A,IL11:NM_000641:exon3:c.G246A:p.A82A, chr19 55879872 55879872 C T het . 4 +line41528 nonsynonymous SNV RPL28:NM_001363697:exon5:c.C388T:p.R130C, chr19 55914374 55914374 C T het . 13 +line41533 nonsynonymous SNV ZNF628:NM_033113:exon3:c.A700G:p.T234A, chr19 55993260 55993260 A G het . 6 +line41534 synonymous SNV ZNF628:NM_033113:exon3:c.A1230G:p.E410E, chr19 55993790 55993790 A G het . 7 +line41537 synonymous SNV SSC5D:NM_001144950:exon3:c.G228T:p.G76G,SSC5D:NM_001195267:exon3:c.G228T:p.G76G, chr19 56000896 56000896 G T het . 2 +line41539 synonymous SNV SSC5D:NM_001144950:exon10:c.C1983T:p.T661T,SSC5D:NM_001195267:exon10:c.C1983T:p.T661T, chr19 56011460 56011460 C T het . 24 +line41542 nonsynonymous SNV SSC5D:NM_001144950:exon13:c.T2927C:p.L976P, chr19 56024519 56024519 T C het . 2 +line41545 nonsynonymous SNV SSC5D:NM_001144950:exon14:c.G3822A:p.M1274I, chr19 56029465 56029465 G A het . 7 +line41549 nonsynonymous SNV SBK2:NM_001101401:exon4:c.G892C:p.A298P, chr19 56041255 56041255 C G het . 3 +line41550 frameshift insertion SBK3:NM_001199824:exon5:c.954dupG:p.F319fs, chr19 56052337 56052337 - C het . 7 +line41551 synonymous SNV SBK3:NM_001199824:exon4:c.G522A:p.P174P, chr19 56052770 56052770 C T het . 12 +line41552 synonymous SNV SBK3:NM_001199824:exon2:c.T177C:p.L59L, chr19 56056184 56056184 A G het . 3 +line41555 synonymous SNV ZNF579:NM_152600:exon2:c.G1653A:p.K551K, chr19 56089353 56089353 C T het . 22 +line41556 synonymous SNV ZNF579:NM_152600:exon2:c.T513G:p.P171P, chr19 56090493 56090493 A C het . 17 +line41557 nonsynonymous SNV FIZ1:NM_032836:exon3:c.A1171G:p.T391A, chr19 56104136 56104136 T C het . 16 +line41559 synonymous SNV ZNF524:NM_153219:exon2:c.G759A:p.E253E, chr19 56114237 56114237 G A het . 6 +line41560 nonframeshift deletion ZNF784:NM_203374:exon2:c.563_565del:p.188_189del, chr19 56133524 56133526 CCG - het . 8 +line41562 synonymous SNV CCDC106:NM_013301:exon5:c.C441T:p.S147S, chr19 56162776 56162776 C T het . 6 +line41567 synonymous SNV U2AF2:NM_001012478:exon11:c.C1191T:p.D397D,U2AF2:NM_007279:exon11:c.C1203T:p.D401D, chr19 56180968 56180968 C T het . 18 +line41569 synonymous SNV EPN1:NM_001130071:exon3:c.G327A:p.P109P, chr19 56189987 56189987 G A het . 18 +line41570 synonymous SNV NLRP9:NM_176820:exon3:c.T1926C:p.L642L, chr19 56241265 56241265 A G het . 24 +line41573 synonymous SNV NLRP11:NM_145007:exon8:c.T2205C:p.C735C,NLRP11:NM_001297743:exon5:c.T1908C:p.C636C, chr19 56307583 56307583 A G het . 17 +line41576 nonsynonymous SNV NLRP11:NM_145007:exon5:c.G562T:p.A188S,NLRP11:NM_001297743:exon2:c.G265T:p.A89S, chr19 56321414 56321414 C A het . 24 +line41580 synonymous SNV NLRP4:NM_134444:exon3:c.G555A:p.T185T, chr19 56369314 56369314 G A het . 17 +line41585 nonsynonymous SNV NLRP4:NM_134444:exon9:c.A2774T:p.Q925L, chr19 56390237 56390237 A T het . 9 +line41586 synonymous SNV NLRP4:NM_134444:exon10:c.T2907G:p.L969L, chr19 56392875 56392875 T G het . 20 +line41587 synonymous SNV NLRP13:NM_001321057:exon10:c.G2871A:p.L957L,NLRP13:NM_176810:exon10:c.G2871A:p.L957L, chr19 56410222 56410222 C T het . 22 +line41591 synonymous SNV NLRP13:NM_001321057:exon5:c.C1515T:p.I505I,NLRP13:NM_176810:exon5:c.C1515T:p.I505I, chr19 56423668 56423668 G A het . 26 +line41592 synonymous SNV NLRP13:NM_001321057:exon5:c.G1491A:p.T497T,NLRP13:NM_176810:exon5:c.G1491A:p.T497T, chr19 56423692 56423692 C T het . 20 +line41593 synonymous SNV NLRP13:NM_001321057:exon5:c.T1455C:p.S485S,NLRP13:NM_176810:exon5:c.T1455C:p.S485S, chr19 56423728 56423728 A G het . 10 +line41594 synonymous SNV NLRP13:NM_001321057:exon5:c.C1290T:p.T430T,NLRP13:NM_176810:exon5:c.C1290T:p.T430T, chr19 56423893 56423893 G A het . 16 +line41595 nonsynonymous SNV NLRP13:NM_001321057:exon5:c.A740G:p.Q247R,NLRP13:NM_176810:exon5:c.A740G:p.Q247R, chr19 56424443 56424443 T C het . 17 +line41596 synonymous SNV NLRP13:NM_001321057:exon5:c.C651T:p.R217R,NLRP13:NM_176810:exon5:c.C651T:p.R217R, chr19 56424532 56424532 G A het . 22 +line41599 nonsynonymous SNV NLRP8:NM_001317000:exon1:c.C74T:p.P25L,NLRP8:NM_176811:exon1:c.C74T:p.P25L, chr19 56459342 56459342 C T het . 9 +line41600 nonsynonymous SNV NLRP8:NM_001317000:exon1:c.G346C:p.V116L,NLRP8:NM_176811:exon1:c.G346C:p.V116L, chr19 56459614 56459614 G C het . 4 +line41603 synonymous SNV NLRP8:NM_001317000:exon4:c.T2070C:p.R690R,NLRP8:NM_176811:exon4:c.T2070C:p.R690R, chr19 56473460 56473460 T C het . 12 +line41605 synonymous SNV NLRP8:NM_001317000:exon5:c.A2322G:p.K774K,NLRP8:NM_176811:exon5:c.A2322G:p.K774K, chr19 56477687 56477687 A G het . 17 +line41606 nonsynonymous SNV NLRP8:NM_001317000:exon5:c.T2345C:p.V782A,NLRP8:NM_176811:exon5:c.T2345C:p.V782A, chr19 56477710 56477710 T C het . 11 +line41610 nonsynonymous SNV NLRP8:NM_001317000:exon8:c.A2753G:p.K918R,NLRP8:NM_176811:exon8:c.A2810G:p.K937R, chr19 56487603 56487603 A G het . 24 +line41611 synonymous SNV NLRP8:NM_001317000:exon9:c.C2838T:p.F946F,NLRP8:NM_176811:exon9:c.C2895T:p.F965F, chr19 56490778 56490778 C T het . 17 +line41613 stoploss NLRP8:NM_001317000:exon10:c.G3090C:p.X1030Y,NLRP8:NM_176811:exon10:c.G3147C:p.X1049Y, chr19 56499279 56499279 G C het . 15 +line41619 synonymous SNV NLRP5:NM_153447:exon2:c.C315T:p.N105N, chr19 56515334 56515334 C T het . 15 +line41624 nonsynonymous SNV NLRP5:NM_153447:exon7:c.G1377C:p.M459I, chr19 56538976 56538976 G C het . 15 +line41625 synonymous SNV NLRP5:NM_153447:exon7:c.C1641T:p.D547D, chr19 56539240 56539240 C T het . 12 +line41626 synonymous SNV NLRP5:NM_153447:exon7:c.C1962T:p.G654G, chr19 56539561 56539561 C T het . 11 +line41627 nonsynonymous SNV NLRP5:NM_153447:exon10:c.T2735C:p.M912T, chr19 56549510 56549510 T C het . 15 +line41628 synonymous SNV NLRP5:NM_153447:exon10:c.A2757G:p.R919R, chr19 56549532 56549532 A G het . 10 +line41636 nonsynonymous SNV NLRP5:NM_153447:exon13:c.G3289A:p.A1097T, chr19 56565164 56565164 G A het . 11 +line41637 nonsynonymous SNV NLRP5:NM_153447:exon15:c.G3541A:p.V1181I, chr19 56572832 56572832 G A het . 17 +line41642 synonymous SNV ZNF787:NM_001351682:exon2:c.G186A:p.L62L, chr19 56614401 56614401 C T het . 8 +line41652 nonsynonymous SNV GALP:NM_033106:exon4:c.C216G:p.I72M, chr19 56693620 56693620 C G het . 8 +line41654 nonsynonymous SNV ZSCAN5B:NM_001080456:exon3:c.G622A:p.V208I, chr19 56702323 56702323 C T het . 14 +line41656 nonsynonymous SNV ZSCAN5C:NM_001358413:exon1:c.A71G:p.Q24R, chr19 56717353 56717353 A G het . 10 +line41657 nonsynonymous SNV ZSCAN5C:NM_001358413:exon2:c.A542G:p.Q181R, chr19 56718585 56718585 A G het . 13 +line41658 nonsynonymous SNV ZSCAN5C:NM_001358413:exon3:c.A591C:p.E197D, chr19 56719405 56719405 A C het . 10 +line41665 nonsynonymous SNV ZSCAN5A:NM_001322073:exon6:c.G1007T:p.G336V,ZSCAN5A:NM_001322067:exon6:c.G1010T:p.G337V,ZSCAN5A:NM_001322075:exon6:c.G1007T:p.G336V,ZSCAN5A:NM_001322074:exon6:c.G1007T:p.G336V,ZSCAN5A:NM_001322078:exon5:c.G620T:p.G207V,ZSCAN5A:NM_001322061:exon7:c.G1166T:p.G389V,ZSCAN5A:NM_001322068:exon6:c.G1010T:p.G337V,ZSCAN5A:NM_001322066:exon6:c.G1010T:p.G337V,ZSCAN5A:NM_024303:exon6:c.G1010T:p.G337V,ZSCAN5A:NM_001322072:exon7:c.G1010T:p.G337V,ZSCAN5A:NM_001322065:exon6:c.G1010T:p.G337V,ZSCAN5A:NM_001322064:exon6:c.G1010T:p.G337V,ZSCAN5A:NM_001322062:exon6:c.G1166T:p.G389V,ZSCAN5A:NM_001322076:exon6:c.G1007T:p.G336V,ZSCAN5A:NM_001322077:exon5:c.G659T:p.G220V,ZSCAN5A:NM_001322070:exon6:c.G1010T:p.G337V, chr19 56733425 56733425 C A het . 26 +line41679 synonymous SNV ZNF582:NM_144690:exon5:c.G1290A:p.K430K,ZNF582:NM_001320371:exon5:c.G1383A:p.K461K, chr19 56895496 56895496 C T het . 11 +line41687 synonymous SNV ZNF583:NM_001159860:exon5:c.A1500G:p.A500A,ZNF583:NM_152478:exon5:c.A1500G:p.A500A,ZNF583:NM_001159861:exon5:c.A1500G:p.A500A, chr19 56935527 56935527 A G het . 12 +line41688 nonsynonymous SNV ZNF667:NM_001321355:exon6:c.A608G:p.K203R,ZNF667:NM_022103:exon5:c.A779G:p.K260R,ZNF667:NM_001321356:exon7:c.A779G:p.K260R, chr19 56953585 56953585 T C het . 40 +line41689 synonymous SNV ZNF667:NM_001321355:exon6:c.A330G:p.T110T,ZNF667:NM_022103:exon5:c.A501G:p.T167T,ZNF667:NM_001321356:exon7:c.A501G:p.T167T, chr19 56953863 56953863 T C het . 22 +line41690 nonsynonymous SNV ZNF667:NM_001321355:exon6:c.C230T:p.P77L,ZNF667:NM_022103:exon5:c.C401T:p.P134L,ZNF667:NM_001321356:exon7:c.C401T:p.P134L, chr19 56953963 56953963 G A het . 30 +line41702 nonsynonymous SNV ZNF471:NM_001321768:exon4:c.G995A:p.G332D,ZNF471:NM_020813:exon5:c.G1217A:p.G406D, chr19 57036653 57036653 G A het . 24 +line41703 synonymous SNV ZNF471:NM_001321768:exon4:c.G1020A:p.S340S,ZNF471:NM_020813:exon5:c.G1242A:p.S414S, chr19 57036678 57036678 G A het . 24 +line41704 nonsynonymous SNV ZFP28:NM_020828:exon1:c.C128G:p.A43G,ZFP28:NM_001308440:exon1:c.C128G:p.A43G, chr19 57050515 57050515 C G het . 22 +line41706 nonsynonymous SNV ZFP28:NM_020828:exon3:c.C422G:p.S141W,ZFP28:NM_001308440:exon3:c.C422G:p.S141W, chr19 57058998 57058998 C G het . 5 +line41709 nonsynonymous SNV ZFP28:NM_001308440:exon7:c.T997C:p.Y333H, chr19 57062073 57062073 T C het . 8 +line41710 synonymous SNV ZNF470:NM_001001668:exon6:c.T1053C:p.D351D, chr19 57088850 57088850 T C het . 17 +line41711 nonsynonymous SNV ZNF470:NM_001001668:exon6:c.C1253T:p.T418I, chr19 57089050 57089050 C T het . 14 +line41717 synonymous SNV ZNF835:NM_001005850:exon2:c.T1083C:p.P361P, chr19 57175484 57175484 A G het . 4 +line41718 synonymous SNV ZNF835:NM_001005850:exon2:c.A369C:p.S123S, chr19 57176198 57176198 T G het . 13 +line41719 nonsynonymous SNV ZNF835:NM_001005850:exon2:c.A263C:p.E88A, chr19 57176304 57176304 T G het . 17 +line41720 nonsynonymous SNV ZNF835:NM_001005850:exon2:c.G85A:p.E29K, chr19 57176482 57176482 C T het . 18 +line41732 frameshift deletion ZIM2:NM_001146327:exon12:c.1469_1470del:p.Q490fs,ZIM2:NM_015363:exon11:c.1469_1470del:p.Q490fs,ZIM2:NM_001146326:exon12:c.1469_1470del:p.Q490fs, chr19 57286170 57286171 TT - het . 26 +line41733 synonymous SNV ZIM2:NM_001146327:exon10:c.T573C:p.S191S,ZIM2:NM_015363:exon9:c.T573C:p.S191S,ZIM2:NM_001146326:exon10:c.T573C:p.S191S, chr19 57293394 57293394 A G het . 15 +line41735 synonymous SNV PEG3:NM_001146184:exon9:c.T2307C:p.Y769Y,PEG3:NM_001146187:exon9:c.T1935C:p.Y645Y,PEG3:NM_006210:exon10:c.T2307C:p.Y769Y,PEG3:NM_001146185:exon9:c.T1929C:p.Y643Y,PEG3:NM_001146186:exon7:c.T2307C:p.Y769Y, chr19 57327503 57327503 A G het . 12 +line41736 nonsynonymous SNV PEG3:NM_001146184:exon9:c.G1466T:p.S489I,PEG3:NM_001146187:exon9:c.G1094T:p.S365I,PEG3:NM_006210:exon10:c.G1466T:p.S489I,PEG3:NM_001146185:exon9:c.G1088T:p.S363I,PEG3:NM_001146186:exon7:c.G1466T:p.S489I, chr19 57328344 57328344 C A het . 29 +line41737 synonymous SNV ZIM2:NM_001146327:exon5:c.C42T:p.S14S,ZIM2:NM_015363:exon4:c.C42T:p.S14S,ZIM2:NM_001146326:exon5:c.C42T:p.S14S,PEG3:NM_001146184:exon4:c.C420T:p.S140S,PEG3:NM_001146187:exon4:c.C42T:p.S14S,PEG3:NM_006210:exon5:c.C420T:p.S140S,PEG3:NM_001146185:exon4:c.C42T:p.S14S,PEG3:NM_001146186:exon2:c.C420T:p.S140S, chr19 57335022 57335022 G A het . 19 +line41747 synonymous SNV USP29:NM_020903:exon4:c.G621A:p.R207R, chr19 57640664 57640664 G A het . 17 +line41748 stopgain USP29:NM_020903:exon4:c.C807A:p.C269X, chr19 57640850 57640850 C A het . 35 +line41749 nonsynonymous SNV USP29:NM_020903:exon4:c.C835A:p.H279N, chr19 57640878 57640878 C A het . 34 +line41750 nonsynonymous SNV USP29:NM_020903:exon4:c.A1103G:p.N368S, chr19 57641146 57641146 A G het . 19 +line41751 stopgain USP29:NM_020903:exon4:c.C2739A:p.Y913X, chr19 57642782 57642782 C A het . 7 +line41752 nonsynonymous SNV ZIM3:NM_052882:exon5:c.A469G:p.N157D, chr19 57647236 57647236 T C het . 34 +line41755 nonsynonymous SNV ZIM3:NM_052882:exon3:c.G20A:p.R7K, chr19 57649962 57649962 C T het . 11 +line41757 nonsynonymous SNV ZNF264:NM_003417:exon4:c.G542C:p.R181T, chr19 57723007 57723007 G C het . 27 +line41758 nonsynonymous SNV ZNF264:NM_003417:exon4:c.G548A:p.R183H, chr19 57723013 57723013 G A het . 27 +line41761 nonsynonymous SNV ZNF805:NM_001023563:exon3:c.G203A:p.G68E, chr19 57760018 57760018 G A het . 23 +line41762 nonsynonymous SNV ZNF805:NM_001023563:exon3:c.G242A:p.G81D, chr19 57760057 57760057 G A het . 12 +line41765 nonsynonymous SNV ZNF805:NM_001145078:exon3:c.G184A:p.V62I,ZNF805:NM_001023563:exon4:c.G583A:p.V195I, chr19 57764770 57764770 G A het . 18 +line41767 nonsynonymous SNV ZNF460:NM_001330622:exon3:c.C266A:p.A89E,ZNF460:NM_006635:exon3:c.C389A:p.A130E, chr19 57802298 57802298 C A het . 27 +line41777 nonsynonymous SNV ZNF543:NM_213598:exon3:c.C163G:p.P55A, chr19 57838018 57838018 C G het . 12 +line41781 nonsynonymous SNV ZNF543:NM_213598:exon4:c.A320G:p.Q107R, chr19 57839150 57839150 A G het . 15 +line41782 nonsynonymous SNV ZNF543:NM_213598:exon4:c.T737A:p.L246H, chr19 57839567 57839567 T A het . 15 +line41783 nonsynonymous SNV ZNF543:NM_213598:exon4:c.A1717G:p.M573V, chr19 57840547 57840547 A G het . 12 +line41791 nonsynonymous SNV ZNF304:NM_001290319:exon4:c.A973G:p.K325E,ZNF304:NM_001329456:exon4:c.A823G:p.K275E,ZNF304:NM_001290318:exon4:c.A1240G:p.K414E,ZNF304:NM_020657:exon3:c.A1099G:p.K367E, chr19 57868336 57868336 A G het . 19 +line41794 nonsynonymous SNV ZNF547:NM_173631:exon4:c.G728A:p.S243N, chr19 57889072 57889072 G A het . 15 +line41798 nonsynonymous SNV ZNF548:NM_152909:exon3:c.G217A:p.A73T,ZNF548:NM_001172773:exon4:c.G253A:p.A85T, chr19 57909872 57909872 G A het . 27 +line41802 nonsynonymous SNV ZNF17:NM_006959:exon3:c.C443A:p.T148K,ZNF17:NM_001330617:exon4:c.C449A:p.T150K, chr19 57931303 57931303 C A het . 21 +line41803 synonymous SNV ZNF17:NM_006959:exon3:c.C1167T:p.N389N,ZNF17:NM_001330617:exon4:c.C1173T:p.N391N, chr19 57932027 57932027 C T het . 20 +line41809 nonsynonymous SNV ZNF749:NM_001023561:exon3:c.T2312G:p.I771R,ZNF749:NM_001321953:exon2:c.T2051G:p.I684R,ZNF749:NM_001321952:exon3:c.T2291G:p.I764R,ZNF749:NM_001321954:exon2:c.T2051G:p.I684R, chr19 57956828 57956828 T G het . 5 +line41810 nonsynonymous SNV VN1R1:NM_020633:exon1:c.C806A:p.A269D, chr19 57967049 57967049 G T het . 14 +line41811 nonsynonymous SNV VN1R1:NM_020633:exon1:c.C722T:p.S241F, chr19 57967133 57967133 G A het . 10 +line41815 synonymous SNV ZNF772:NM_001144068:exon4:c.T1071C:p.S357S,ZNF772:NM_001330613:exon3:c.T858C:p.S286S,ZNF772:NM_001024596:exon5:c.T1194C:p.S398S, chr19 57984918 57984918 A G het . 18 +line41816 nonsynonymous SNV ZNF772:NM_001144068:exon4:c.A529T:p.M177L,ZNF772:NM_001330613:exon3:c.A316T:p.M106L,ZNF772:NM_001024596:exon5:c.A652T:p.M218L, chr19 57985460 57985460 T A het . 13 +line41817 nonsynonymous SNV ZNF772:NM_001144068:exon4:c.C423G:p.C141W,ZNF772:NM_001330613:exon3:c.C210G:p.C70W,ZNF772:NM_001024596:exon5:c.C546G:p.C182W, chr19 57985566 57985566 G C het . 11 +line41818 nonframeshift insertion ZNF772:NM_001144068:exon1:c.11_12insGGC:p.A4delinsAA,ZNF772:NM_001024596:exon1:c.11_12insGGC:p.A4delinsAA, chr19 57988666 57988666 - GCC het . 5 +line41826 nonsynonymous SNV ZNF419:NM_001291744:exon4:c.G157C:p.E53Q,ZNF419:NM_001098492:exon4:c.G385C:p.E129Q,ZNF419:NM_024691:exon5:c.G421C:p.E141Q,ZNF419:NM_001098496:exon3:c.G283C:p.E95Q,ZNF419:NM_001098493:exon4:c.G382C:p.E128Q,ZNF419:NM_001098494:exon4:c.G325C:p.E109Q,ZNF419:NM_001291743:exon4:c.G322C:p.E108Q,ZNF419:NM_001098495:exon3:c.G286C:p.E96Q,ZNF419:NM_001098491:exon5:c.G424C:p.E142Q, chr19 58004346 58004346 G C het . 20 +line41829 nonframeshift substitution ZNF773:NM_198542:exon4:c.290_291AG,ZNF773:NM_001304334:exon4:c.287_288AG,ZNF773:NM_001304336:exon4:c.283_284AG, chr19 58017753 58017754 CA AG het . 8 +line41830 nonsynonymous SNV ZNF773:NM_198542:exon4:c.G295C:p.A99P,ZNF773:NM_001304334:exon4:c.G292C:p.A98P, chr19 58017758 58017758 G C het . 8 +line41831 synonymous SNV ZNF773:NM_198542:exon4:c.A1155G:p.K385K,ZNF773:NM_001304334:exon4:c.A1152G:p.K384K, chr19 58018618 58018618 A G het . 17 +line41835 stopgain ZNF773:NM_001304335:exon4:c.G264A:p.W88X, chr19 58019892 58019892 G A het . 20 +line41841 nonsynonymous SNV ZNF549:NM_153263:exon1:c.T23A:p.I8N,ZNF549:NM_001199295:exon1:c.T23A:p.I8N, chr19 58038964 58038964 T A het . 14 +line41843 nonsynonymous SNV ZNF550:NM_001277092:exon4:c.T1076C:p.I359T,ZNF550:NM_001277091:exon4:c.T1076C:p.I359T,ZNF550:NM_001277090:exon4:c.T1076C:p.I359T, chr19 58058536 58058536 A G het . 8 +line41844 synonymous SNV ZNF550:NM_001277092:exon4:c.A873G:p.Q291Q,ZNF550:NM_001277091:exon4:c.A873G:p.Q291Q,ZNF550:NM_001277090:exon4:c.A873G:p.Q291Q, chr19 58058739 58058739 T C het . 13 +line41845 nonsynonymous SNV ZNF550:NM_001277093:exon4:c.G371T:p.G124V,ZNF550:NM_001277092:exon4:c.G371T:p.G124V,ZNF550:NM_001277091:exon4:c.G371T:p.G124V,ZNF550:NM_001277090:exon4:c.G371T:p.G124V, chr19 58059241 58059241 C A het . 36 +line41847 nonsynonymous SNV ZNF530:NM_001321981:exon4:c.T231A:p.H77Q,ZNF530:NM_020880:exon3:c.T330A:p.H110Q, chr19 58117223 58117223 T A het . 19 +line41851 frameshift deletion ZNF211:NM_001322306:exon4:c.310delG:p.V104fs,ZNF211:NM_001265598:exon3:c.277delG:p.V93fs,ZNF211:NM_001265599:exon4:c.94delG:p.V32fs,ZNF211:NM_001265597:exon4:c.316delG:p.V106fs, chr19 58151339 58151339 G - het . 17 +line41856 nonsynonymous SNV ZNF154:NM_001085384:exon3:c.G365T:p.G122V, chr19 58213952 58213952 C A het . 21 +line41868 nonsynonymous SNV ZNF814:NM_001144989:exon3:c.G1705T:p.V569F, chr19 58385053 58385053 C A het . 13 +line41873 nonsynonymous SNV ZNF418:NM_001317030:exon2:c.G449T:p.C150F,ZNF418:NM_001317027:exon5:c.G767T:p.C256F,ZNF418:NM_001317028:exon5:c.G707T:p.C236F,ZNF418:NM_001317029:exon5:c.G704T:p.C235F,ZNF418:NM_133460:exon4:c.G704T:p.C235F, chr19 58438845 58438845 C A het . 23 +line41874 synonymous SNV ZNF256:NM_005773:exon2:c.G81A:p.E27E, chr19 58455381 58455381 C T het . 15 +line41888 synonymous SNV ZNF606:NM_001348024:exon6:c.A849G:p.K283K,ZNF606:NM_001348022:exon7:c.A1119G:p.K373K,ZNF606:NM_001348025:exon7:c.A645G:p.K215K,ZNF606:NM_025027:exon7:c.A1119G:p.K373K,ZNF606:NM_001348023:exon6:c.A849G:p.K283K, chr19 58490929 58490929 T C het . 17 +line41899 synonymous SNV ZSCAN1:NM_182572:exon3:c.C162G:p.L54L, chr19 58549366 58549366 C G het . 10 +line41905 synonymous SNV ZNF135:NM_003436:exon3:c.G45A:p.T15T,ZNF135:NM_001164527:exon2:c.G81A:p.T27T,ZNF135:NM_007134:exon2:c.G81A:p.T27T,ZNF135:NM_001164530:exon2:c.G81A:p.T27T,ZNF135:NM_001164529:exon2:c.G81A:p.T27T,ZNF135:NM_001289401:exon3:c.G45A:p.T15T, chr19 58572959 58572959 G A het . 5 +line41906 nonsynonymous SNV ZNF135:NM_003436:exon3:c.G65A:p.G22D,ZNF135:NM_001164527:exon2:c.G101A:p.G34D,ZNF135:NM_007134:exon2:c.G101A:p.G34D,ZNF135:NM_001164530:exon2:c.G101A:p.G34D,ZNF135:NM_001164529:exon2:c.G101A:p.G34D,ZNF135:NM_001289401:exon3:c.G65A:p.G22D, chr19 58572979 58572979 G A het . 6 +line41921 unknown UNKNOWN chr19 58718360 58718360 - G het . 15 +line41925 nonsynonymous SNV ZNF544:NM_001320770:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320767:exon7:c.A2099G:p.Q700R,ZNF544:NM_014480:exon7:c.A2099G:p.Q700R,ZNF544:NM_001320771:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320773:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320769:exon7:c.A2099G:p.Q700R,ZNF544:NM_001320774:exon7:c.A1394G:p.Q465R, chr19 58774071 58774071 A G het . 9 +line41941 synonymous SNV ZNF8:NM_021089:exon4:c.T909C:p.H303H, chr19 58806083 58806083 T C het . 8 +line41943 synonymous SNV ZSCAN22:NM_181846:exon3:c.G1125C:p.T375T,ZSCAN22:NM_001321116:exon3:c.G1125C:p.T375T, chr19 58850341 58850341 G C het . 10 +line41948 synonymous SNV A1BG:NM_130786:exon5:c.T825G:p.G275G, chr19 58862842 58862842 A C het . 22 +line41949 nonsynonymous SNV A1BG:NM_130786:exon3:c.A155G:p.H52R, chr19 58864479 58864479 T C het . 9 +line41951 nonsynonymous SNV ZNF497:NM_001207009:exon2:c.C522A:p.H174Q,ZNF497:NM_198458:exon3:c.C522A:p.H174Q, chr19 58868480 58868480 G T het . 19 +line41952 nonsynonymous SNV ZNF497:NM_001207009:exon2:c.G314T:p.G105V,ZNF497:NM_198458:exon3:c.G314T:p.G105V, chr19 58868688 58868688 C A het . 20 +line41954 nonsynonymous SNV RNF225:NM_001195135:exon1:c.C179A:p.S60Y, chr19 58907635 58907635 C A het . 13 +line41955 nonsynonymous SNV RNF225:NM_001195135:exon1:c.G244A:p.D82N, chr19 58907700 58907700 G A het . 15 +line41956 synonymous SNV ZNF132:NM_003433:exon3:c.G849A:p.K283K, chr19 58945962 58945962 C T het . 21 +line41957 synonymous SNV ZNF324:NM_014347:exon4:c.A525G:p.R175R, chr19 58982384 58982384 A G het . 17 +line41958 nonsynonymous SNV ZNF446:NM_017908:exon4:c.A574C:p.N192H,ZNF446:NM_001304453:exon3:c.A574C:p.N192H, chr19 58989495 58989495 A C het . 17 +line41961 nonsynonymous SNV SLC27A5:NM_001321196:exon1:c.C157T:p.R53W,SLC27A5:NM_012254:exon1:c.C157T:p.R53W, chr19 59023166 59023166 G A het . 13 +line41962 nonsynonymous SNV SLC27A5:NM_001321196:exon1:c.T149C:p.M50T,SLC27A5:NM_012254:exon1:c.T149C:p.M50T, chr19 59023174 59023174 A G het . 14 +line41966 synonymous SNV TRIM28:NM_005762:exon15:c.C2148T:p.P716P, chr19 59061357 59061357 C T het . 14 +line41968 synonymous SNV MZF1:NM_198055:exon6:c.T2031C:p.G677G,MZF1:NM_003422:exon6:c.T2031C:p.G677G, chr19 59073613 59073613 A G het . 5 +line41969 synonymous SNV MZF1:NM_198055:exon6:c.G1215A:p.T405T,MZF1:NM_003422:exon6:c.G1215A:p.T405T, chr19 59074429 59074429 C T het . 18 +line41970 nonsynonymous SNV MZF1:NM_198055:exon6:c.A991G:p.I331V,MZF1:NM_003422:exon6:c.A991G:p.I331V, chr19 59074653 59074653 T C het . 9 +line41971 nonsynonymous SNV MZF1:NM_198055:exon2:c.G389A:p.R130Q,MZF1:NM_001267033:exon2:c.G389A:p.R130Q,MZF1:NM_003422:exon2:c.G389A:p.R130Q, chr19 59082368 59082368 C T het . 7 +line41972 nonsynonymous SNV MZF1:NM_198055:exon2:c.G310T:p.V104L,MZF1:NM_001267033:exon2:c.G310T:p.V104L,MZF1:NM_003422:exon2:c.G310T:p.V104L, chr19 59082447 59082447 C A het . 11 +line41975 synonymous SNV DEFB125:NM_153325:exon2:c.T375C:p.S125S, chr20 76962 76962 T C het . 18 +line41983 nonsynonymous SNV DEFB128:NM_001037732:exon2:c.A81T:p.K27N, chr20 168728 168728 T A het . 23 +line41988 nonframeshift deletion DEFB132:NM_207469:exon1:c.17_22del:p.6_8del, chr20 238436 238441 TGGTCT - het . 16 +line41992 synonymous SNV DEFB132:NM_207469:exon2:c.G189A:p.P63P, chr20 239848 239848 G A het . 17 +line41995 nonsynonymous SNV C20orf96:NM_080571:exon10:c.A910T:p.I304F,C20orf96:NM_153269:exon10:c.A913T:p.I305F, chr20 256727 256727 T A het . 12 +line41996 synonymous SNV C20orf96:NM_080571:exon8:c.T774C:p.S258S,C20orf96:NM_153269:exon8:c.T777C:p.S259S, chr20 257733 257733 A G het . 21 +line42007 synonymous SNV TRIB3:NM_001301201:exon4:c.T414C:p.Y138Y,TRIB3:NM_001301196:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301193:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301190:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301188:exon3:c.T333C:p.Y111Y,TRIB3:NM_021158:exon3:c.T333C:p.Y111Y, chr20 371972 371972 T C het . 9 +line42008 synonymous SNV TRIB3:NM_001301201:exon5:c.C1050T:p.A350A,TRIB3:NM_001301196:exon4:c.C969T:p.A323A,TRIB3:NM_001301193:exon4:c.C969T:p.A323A,TRIB3:NM_001301190:exon4:c.C969T:p.A323A,TRIB3:NM_001301188:exon4:c.C969T:p.A323A,TRIB3:NM_021158:exon4:c.C969T:p.A323A, chr20 377226 377226 C T het . 13 +line42013 synonymous SNV RBCK1:NM_001323960:exon3:c.C282T:p.Y94Y, chr20 391170 391170 C T het . 19 +line42026 synonymous SNV TCF15:NM_004609:exon1:c.T426C:p.R142R, chr20 590456 590456 A G het . 9 +line42027 nonframeshift substitution TCF15:NM_004609:exon1:c.339_340GC, chr20 590542 590543 CG GC het . 11 +line42038 synonymous SNV SLC52A3:NM_033409:exon5:c.T1233C:p.S411S, chr20 741847 741847 A G het . 8 +line42039 synonymous SNV SLC52A3:NM_033409:exon3:c.C765T:p.L255L, chr20 744450 744450 G A het . 39 +line42040 synonymous SNV SLC52A3:NM_033409:exon3:c.C645T:p.P215P, chr20 744570 744570 G A het . 28 +line42041 synonymous SNV SLC52A3:NM_033409:exon2:c.C321T:p.A107A, chr20 746098 746098 G A het . 45 +line42050 synonymous SNV FAM110A:NM_001042353:exon2:c.T231C:p.F77F,FAM110A:NM_001289147:exon2:c.T231C:p.F77F,FAM110A:NM_001289146:exon2:c.T231C:p.F77F,FAM110A:NM_001289145:exon3:c.T231C:p.F77F,FAM110A:NM_207121:exon2:c.T231C:p.F77F,FAM110A:NM_031424:exon1:c.T231C:p.F77F, chr20 825678 825678 T C het . 16 +line42055 synonymous SNV ANGPT4:NM_015985:exon6:c.C1017T:p.T339T,ANGPT4:NM_001322809:exon6:c.C1017T:p.T339T, chr20 860426 860426 G A het . 9 +line42069 nonsynonymous SNV PSMF1:NM_006814:exon1:c.T107G:p.F36C,PSMF1:NM_001323410:exon1:c.T107G:p.F36C,PSMF1:NM_178578:exon2:c.T107G:p.F36C,PSMF1:NM_001323409:exon1:c.T107G:p.F36C,PSMF1:NM_001323408:exon1:c.T107G:p.F36C, chr20 1099523 1099523 T G het . 20 +line42072 synonymous SNV PSMF1:NM_006814:exon3:c.C336T:p.I112I,PSMF1:NM_001323410:exon3:c.C336T:p.I112I,PSMF1:NM_178578:exon4:c.C336T:p.I112I,PSMF1:NM_001323409:exon3:c.C336T:p.I112I,PSMF1:NM_001323408:exon3:c.C336T:p.I112I,PSMF1:NM_001323407:exon3:c.C72T:p.I24I, chr20 1108122 1108122 C T het . 24 +line42078 nonsynonymous SNV RAD21L1:NM_001136566:exon3:c.T268C:p.C90R, chr20 1210647 1210647 T C het . 22 +line42079 nonsynonymous SNV RAD21L1:NM_001136566:exon5:c.A454C:p.I152L, chr20 1214814 1214814 A C het . 20 +line42087 synonymous SNV SDCBP2:NM_080489:exon7:c.G705A:p.V235V,SDCBP2:NM_015685:exon3:c.G450A:p.V150V,SDCBP2:NM_001199784:exon7:c.G705A:p.V235V, chr20 1293008 1293008 C T het . 11 +line42092 synonymous SNV FKBP1A:NM_001199786:exon4:c.A258G:p.P86P, chr20 1350709 1350709 T C het . 19 +line42101 nonsynonymous SNV SIRPB2:NM_001122962:exon3:c.A644C:p.E215A,SIRPB2:NM_001134836:exon3:c.A350C:p.E117A, chr20 1459060 1459060 T G het . 16 +line42108 nonsynonymous SNV SIRPD:NM_178460:exon2:c.A163G:p.N55D, chr20 1532595 1532595 T C het . 17 +line42109 synonymous SNV SIRPD:NM_178460:exon1:c.G51A:p.L17L, chr20 1538249 1538249 C T het . 1 +line42111 nonsynonymous SNV SIRPB1:NM_006065:exon5:c.G1087C:p.A363P,SIRPB1:NM_001083910:exon3:c.G436C:p.A146P,SIRPB1:NM_001330639:exon3:c.G433C:p.A145P, chr20 1546911 1546911 C G het . 9 +line42112 nonsynonymous SNV SIRPB1:NM_006065:exon3:c.A687G:p.I229M, chr20 1552430 1552430 T C het . 16 +line42115 nonsynonymous SNV SIRPB1:NM_006065:exon1:c.A67G:p.R23G,SIRPB1:NM_001083910:exon1:c.A67G:p.R23G,SIRPB1:NM_001329157:exon1:c.A67G:p.R23G,SIRPB1:NM_001135844:exon1:c.A67G:p.R23G, chr20 1600524 1600524 T C het . 8 +line42116 synonymous SNV SIRPG:NM_001039508:exon4:c.C807T:p.Y269Y,SIRPG:NM_080816:exon3:c.C489T:p.Y163Y,SIRPG:NM_018556:exon5:c.C1140T:p.Y380Y, chr20 1610894 1610894 G A het . 7 +line42117 synonymous SNV SIRPG:NM_018556:exon4:c.A1035G:p.L345L, chr20 1615959 1615959 T C het . 13 +line42118 nonsynonymous SNV SIRPG:NM_018556:exon4:c.C857T:p.S286L, chr20 1616137 1616137 G A het . 21 +line42119 nonsynonymous SNV SIRPG:NM_018556:exon4:c.T788C:p.V263A, chr20 1616206 1616206 A G het . 13 +line42120 synonymous SNV SIRPG:NM_001039508:exon2:c.G222A:p.R74R,SIRPG:NM_080816:exon2:c.G222A:p.R74R,SIRPG:NM_018556:exon2:c.G222A:p.R74R, chr20 1629906 1629906 C T het . 31 +line42144 synonymous SNV PDYN:NM_024411:exon4:c.T600C:p.H200H,PDYN:NM_001190898:exon4:c.T600C:p.H200H,PDYN:NM_001190900:exon4:c.T600C:p.H200H,PDYN:NM_001190899:exon3:c.T600C:p.H200H,PDYN:NM_001190892:exon3:c.T600C:p.H200H, chr20 1961134 1961134 A G het . 12 +line42145 nonsynonymous SNV PDYN:NM_024411:exon4:c.A436C:p.M146L,PDYN:NM_001190898:exon4:c.A436C:p.M146L,PDYN:NM_001190900:exon4:c.A436C:p.M146L,PDYN:NM_001190899:exon3:c.A436C:p.M146L,PDYN:NM_001190892:exon3:c.A436C:p.M146L, chr20 1961298 1961298 T G het . 31 +line42149 nonsynonymous SNV STK35:NM_080836:exon1:c.C205G:p.R69G, chr20 2082732 2082732 C G het . 4 +line42159 nonsynonymous SNV TGM3:NM_003245:exon2:c.C38A:p.T13K, chr20 2290333 2290333 C A het . 18 +line42167 nonsynonymous SNV TGM3:NM_003245:exon13:c.G1960C:p.G654R, chr20 2321105 2321105 G C het . 15 +line42174 nonsynonymous SNV TGM6:NM_001254734:exon2:c.A172G:p.M58V,TGM6:NM_198994:exon2:c.A172G:p.M58V, chr20 2375262 2375262 A G het . 18 +line42190 nonsynonymous SNV TMC2:NM_080751:exon3:c.G368A:p.R123K, chr20 2539387 2539387 G A het . 4 +line42204 synonymous SNV TMC2:NM_080751:exon19:c.T2406C:p.S802S, chr20 2618140 2618140 T C het . 18 +line42212 synonymous SNV NOP56:NM_006392:exon3:c.T105C:p.S35S, chr20 2633936 2633936 T C het . 9 +line42214 synonymous SNV NOP56:NM_006392:exon9:c.T1035C:p.T345T, chr20 2637071 2637071 T C het . 13 +line42216 synonymous SNV IDH3B:NM_006899:exon9:c.T831C:p.I277I,IDH3B:NM_001258384:exon9:c.T831C:p.I277I,IDH3B:NM_001330763:exon9:c.T831C:p.I277I,IDH3B:NM_174855:exon9:c.T831C:p.I277I, chr20 2640760 2640760 A G het . 29 +line42221 synonymous SNV EBF4:NM_001110514:exon17:c.T1755C:p.F585F, chr20 2739583 2739583 T C het . 26 +line42226 nonsynonymous SNV TMEM239:NM_001318207:exon1:c.G35A:p.R12H, chr20 2797015 2797015 G A het . 11 +line42227 nonsynonymous SNV PTPRA:NM_080840:exon5:c.C119A:p.A40E,PTPRA:NM_002836:exon9:c.C119A:p.A40E,PTPRA:NM_080841:exon5:c.C119A:p.A40E, chr20 2945552 2945552 C A het . 19 +line42228 nonsynonymous SNV PTPRA:NM_080840:exon5:c.C353A:p.T118K,PTPRA:NM_002836:exon9:c.C353A:p.T118K,PTPRA:NM_080841:exon5:c.C353A:p.T118K, chr20 2945786 2945786 C A het . 23 +line42237 nonsynonymous SNV UBOX5:NM_001267584:exon5:c.A1525C:p.T509P, chr20 3090848 3090848 T G het . 26 +line42239 synonymous SNV LZTS3:NM_001282533:exon3:c.C342T:p.N114N, chr20 3147468 3147468 G A het . 30 +line42242 synonymous SNV ITPA:NM_181493:exon3:c.G87A:p.Q29Q,ITPA:NM_033453:exon3:c.G138A:p.Q46Q,ITPA:NM_001324240:exon3:c.G138A:p.Q46Q, chr20 3193978 3193978 G A het . 60 +line42247 nonsynonymous SNV ITPA:NM_001324236:exon7:c.G224A:p.S75N,ITPA:NM_001324238:exon7:c.G224A:p.S75N,ITPA:NM_001324237:exon8:c.G224A:p.S75N,ITPA:NM_001351739:exon7:c.G224A:p.S75N, chr20 3204084 3204084 G A het . 24 +line42251 synonymous SNV SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001363745:exon5:c.A433C:p.R145R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R, chr20 3214819 3214819 T G het . 18 +line42255 nonsynonymous SNV SLC4A11:NM_001174090:exon1:c.C77G:p.P26R, chr20 3218634 3218634 G C het . 6 +line42258 synonymous SNV C20orf194:NM_001009984:exon21:c.T1743A:p.I581I, chr20 3285126 3285126 A T het . 23 +line42259 nonsynonymous SNV C20orf194:NM_001009984:exon21:c.A1729G:p.R577G, chr20 3285140 3285140 T C het . 26 +line42280 synonymous SNV ATRN:NM_001323332:exon17:c.C2892T:p.Y964Y,ATRN:NM_139322:exon17:c.C2892T:p.Y964Y,ATRN:NM_139321:exon17:c.C2892T:p.Y964Y,ATRN:NM_001207047:exon17:c.C2544T:p.Y848Y, chr20 3564672 3564672 C T het . 8 +line42288 synonymous SNV ATRN:NM_139321:exon28:c.G4080A:p.P1360P, chr20 3624830 3624830 G A het . 15 +line42289 synonymous SNV GFRA4:NM_022139:exon2:c.G102A:p.T34T,GFRA4:NM_145762:exon2:c.G102A:p.T34T, chr20 3641881 3641881 C T het . 4 +line42293 synonymous SNV ADAM33:NM_025220:exon16:c.G1722T:p.G574G,ADAM33:NM_153202:exon16:c.G1722T:p.G574G,ADAM33:NM_001282447:exon16:c.G1722T:p.G574G, chr20 3652411 3652411 C A het . 16 +line42296 nonsynonymous SNV SIGLEC1:NM_023068:exon11:c.C2921T:p.A974V, chr20 3675333 3675333 G A het . 9 +line42297 nonsynonymous SNV SIGLEC1:NM_023068:exon11:c.A2756C:p.H919P, chr20 3675498 3675498 T G het . 12 +line42298 synonymous SNV SIGLEC1:NM_023068:exon10:c.A2559G:p.K853K, chr20 3677357 3677357 T C het . 17 +line42299 synonymous SNV SIGLEC1:NM_023068:exon9:c.A2376C:p.V792V, chr20 3677736 3677736 T G het . 12 +line42300 synonymous SNV SIGLEC1:NM_023068:exon6:c.C1506T:p.S502S, chr20 3682011 3682011 G A het . 3 +line42301 nonsynonymous SNV SIGLEC1:NM_023068:exon4:c.A716G:p.K239R, chr20 3684729 3684729 T C het . 13 +line42302 nonsynonymous SNV SIGLEC1:NM_023068:exon3:c.G661A:p.V221M, chr20 3686436 3686436 C T het . 5 +line42305 synonymous SNV HSPA12B:NM_001197327:exon13:c.C1878T:p.C626C,HSPA12B:NM_001318322:exon12:c.C1623T:p.C541C,HSPA12B:NM_052970:exon13:c.C1881T:p.C627C, chr20 3732633 3732633 C T het . 18 +line42311 synonymous SNV CDC25B:NM_001287519:exon14:c.C1080T:p.I360I,CDC25B:NM_004358:exon14:c.C1374T:p.I458I,CDC25B:NM_001287522:exon13:c.C957T:p.I319I,CDC25B:NM_001287518:exon13:c.C1143T:p.I381I,CDC25B:NM_001287517:exon14:c.C1182T:p.I394I,CDC25B:NM_001287516:exon14:c.C1224T:p.I408I,CDC25B:NM_001287524:exon10:c.C840T:p.I280I,CDC25B:NM_001287520:exon14:c.C1080T:p.I360I,CDC25B:NM_021872:exon13:c.C1293T:p.I431I,CDC25B:NM_021873:exon14:c.C1416T:p.I472I, chr20 3784110 3784110 C T het . 25 +line42313 nonsynonymous SNV MAVS:NM_020746:exon3:c.C277G:p.Q93E, chr20 3838441 3838441 C G het . 19 +line42314 nonsynonymous SNV MAVS:NM_020746:exon5:c.C592A:p.Q198K,MAVS:NM_001206491:exon4:c.C169A:p.Q57K, chr20 3843027 3843027 C A het . 9 +line42315 nonsynonymous SNV MAVS:NM_020746:exon7:c.C1226T:p.S409F,MAVS:NM_001206491:exon6:c.C803T:p.S268F, chr20 3846397 3846397 C T het . 14 +line42317 nonsynonymous SNV PANK2:NM_001324192:exon1:c.A137T:p.D46V,PANK2:NM_153638:exon1:c.A137T:p.D46V, chr20 3869884 3869884 A T het . 22 +line42318 nonsynonymous SNV PANK2:NM_001324192:exon1:c.G377C:p.G126A,PANK2:NM_153638:exon1:c.G377C:p.G126A, chr20 3870124 3870124 G C het . 7 +line42341 synonymous SNV SMOX:NM_001270691:exon3:c.C375A:p.T125T,SMOX:NM_175841:exon3:c.C375A:p.T125T,SMOX:NM_175842:exon3:c.C375A:p.T125T,SMOX:NM_175839:exon3:c.C375A:p.T125T,SMOX:NM_175840:exon3:c.C375A:p.T125T, chr20 4158164 4158164 C A het . 27 +line42342 synonymous SNV SMOX:NM_001270691:exon5:c.C1116T:p.F372F,SMOX:NM_175842:exon6:c.C957T:p.F319F,SMOX:NM_175839:exon5:c.C1116T:p.F372F,SMOX:NM_175840:exon6:c.C957T:p.F319F, chr20 4163242 4163242 C T het . 13 +line42343 synonymous SNV SMOX:NM_001270691:exon5:c.A1176G:p.A392A,SMOX:NM_175842:exon6:c.A1017G:p.A339A,SMOX:NM_175839:exon5:c.A1176G:p.A392A,SMOX:NM_175840:exon6:c.A1017G:p.A339A, chr20 4163302 4163302 A G het . 8 +line42372 nonsynonymous SNV PRNP:NM_183079:exon2:c.A385G:p.M129V,PRNP:NM_001080121:exon2:c.A385G:p.M129V,PRNP:NM_000311:exon2:c.A385G:p.M129V,PRNP:NM_001080122:exon2:c.A385G:p.M129V,PRNP:NM_001080123:exon2:c.A385G:p.M129V, chr20 4680251 4680251 A G het . 23 +line42373 nonsynonymous SNV PRND:NM_012409:exon2:c.C521T:p.T174M, chr20 4705718 4705718 C T het . 12 +line42382 nonsynonymous SNV RASSF2:NM_170774:exon10:c.G867T:p.K289N,RASSF2:NM_014737:exon11:c.G867T:p.K289N, chr20 4766921 4766921 C A het . 17 +line42387 nonsynonymous SNV SLC23A2:NM_005116:exon17:c.G1790T:p.G597V,SLC23A2:NM_203327:exon17:c.G1790T:p.G597V, chr20 4837781 4837781 C A het . 10 +line42388 synonymous SNV SLC23A2:NM_005116:exon6:c.C375T:p.A125A,SLC23A2:NM_203327:exon6:c.C375T:p.A125A, chr20 4880308 4880308 G A het . 18 +line42428 nonsynonymous SNV SHLD1:NM_001303479:exon2:c.C68T:p.A23V,SHLD1:NM_001303477:exon3:c.C68T:p.A23V,SHLD1:NM_152504:exon2:c.C68T:p.A23V, chr20 5753579 5753579 C T het . 15 +line42436 synonymous SNV SHLD1:NM_001303478:exon4:c.T225C:p.G75G,SHLD1:NM_001303477:exon4:c.T321C:p.G107G,SHLD1:NM_152504:exon3:c.T321C:p.G107G, chr20 5843812 5843812 T C het . 16 +line42441 nonsynonymous SNV CHGB:NM_001819:exon4:c.T277A:p.S93T, chr20 5903067 5903067 T A het . 12 +line42442 nonsynonymous SNV CHGB:NM_001819:exon4:c.G533A:p.R178Q, chr20 5903323 5903323 G A het . 27 +line42443 nonsynonymous SNV CHGB:NM_001819:exon4:c.A727G:p.T243A, chr20 5903517 5903517 A G het . 17 +line42444 nonsynonymous SNV CHGB:NM_001819:exon4:c.C1058G:p.A353G, chr20 5903848 5903848 C G het . 21 +line42445 synonymous SNV CHGB:NM_001819:exon4:c.A1104G:p.E368E, chr20 5903894 5903894 A G het . 19 +line42446 nonsynonymous SNV CHGB:NM_001819:exon4:c.G1250A:p.R417H, chr20 5904040 5904040 G A het . 28 +line42461 nonsynonymous SNV LRRN4:NM_152611:exon2:c.C442T:p.L148F, chr20 6033004 6033004 G A het . 2 +line42462 nonsynonymous SNV LRRN4:NM_152611:exon2:c.A421G:p.T141A, chr20 6033025 6033025 T C het . 6 +line42467 synonymous SNV FERMT1:NM_017671:exon13:c.T1695C:p.F565F, chr20 6064710 6064710 A G het . 34 +line42469 nonsynonymous SNV FERMT1:NM_017671:exon12:c.G1577A:p.R526K, chr20 6065729 6065729 C T het . 33 +line42470 synonymous SNV FERMT1:NM_017671:exon12:c.A1575G:p.K525K, chr20 6065731 6065731 T C het . 33 +line42474 nonsynonymous SNV FERMT1:NM_017671:exon4:c.T479C:p.I160T, chr20 6093177 6093177 A G het . 39 +line42476 synonymous SNV FERMT1:NM_017671:exon3:c.C211T:p.L71L, chr20 6096632 6096632 G A het . 27 +line42478 synonymous SNV FERMT1:NM_017671:exon2:c.T114C:p.H38H, chr20 6100088 6100088 A G het . 26 +line42562 synonymous SNV TMX4:NM_021156:exon4:c.G456A:p.P152P, chr20 7980390 7980390 C T het . 8 +line42566 synonymous SNV PLCB1:NM_015192:exon2:c.C102T:p.D34D,PLCB1:NM_182734:exon2:c.C102T:p.D34D, chr20 8130943 8130943 C T het . 13 +line42595 synonymous SNV PLCB1:NM_015192:exon24:c.G2565A:p.A855A,PLCB1:NM_182734:exon24:c.G2565A:p.A855A, chr20 8737734 8737734 G A het . 19 +line42597 synonymous SNV PLCB1:NM_015192:exon27:c.T2988C:p.A996A,PLCB1:NM_182734:exon27:c.T2988C:p.A996A, chr20 8755243 8755243 T C het . 25 +line42604 synonymous SNV PLCB1:NM_015192:exon31:c.C3337T:p.L1113L,PLCB1:NM_182734:exon31:c.C3337T:p.L1113L, chr20 8770822 8770822 C T het . 36 +line42621 nonsynonymous SNV PLCB1:NM_015192:exon32:c.C3462A:p.F1154L, chr20 8862307 8862307 C A het . 33 +line42646 nonsynonymous SNV PLCB4:NM_182797:exon2:c.G61A:p.A21T,PLCB4:NM_000933:exon1:c.G61A:p.A21T,PLCB4:NM_001172646:exon3:c.G61A:p.A21T, chr20 9288522 9288522 G A het . 25 +line42657 nonsynonymous SNV PAK5:NM_020341:exon7:c.G1532A:p.S511N,PAK5:NM_177990:exon6:c.G1532A:p.S511N, chr20 9543622 9543622 C T het . 10 +line42681 synonymous SNV ANKEF1:NM_022096:exon3:c.A144G:p.G48G,ANKEF1:NM_198798:exon2:c.A144G:p.G48G, chr20 10019093 10019093 A G het . 11 +line42685 nonsynonymous SNV ANKEF1:NM_022096:exon7:c.T971A:p.L324Q,ANKEF1:NM_198798:exon6:c.T971A:p.L324Q,ANKEF1:NM_001303472:exon7:c.T404A:p.L135Q, chr20 10030188 10030188 T A het . 15 +line42686 synonymous SNV ANKEF1:NM_022096:exon8:c.T1746G:p.A582A,ANKEF1:NM_198798:exon7:c.T1746G:p.A582A,ANKEF1:NM_001303472:exon8:c.T1179G:p.A393A, chr20 10032413 10032413 T G het . 25 +line42699 synonymous SNV SNAP25:NM_001322904:exon7:c.C330T:p.D110D,SNAP25:NM_001322905:exon7:c.C330T:p.D110D,SNAP25:NM_001322906:exon7:c.C330T:p.D110D,SNAP25:NM_130811:exon6:c.C330T:p.D110D,SNAP25:NM_001322910:exon7:c.C330T:p.D110D,SNAP25:NM_001322907:exon8:c.C330T:p.D110D,SNAP25:NM_001322909:exon7:c.C330T:p.D110D,SNAP25:NM_001322908:exon8:c.C330T:p.D110D,SNAP25:NM_003081:exon6:c.C330T:p.D110D,SNAP25:NM_001322902:exon6:c.C330T:p.D110D,SNAP25:NM_001322903:exon7:c.C330T:p.D110D, chr20 10277621 10277621 C T het . 10 +line42731 synonymous SNV JAG1:NM_000214:exon26:c.C3528T:p.Y1176Y, chr20 10620275 10620275 G A het . 19 +line42732 synonymous SNV JAG1:NM_000214:exon26:c.T3417C:p.Y1139Y, chr20 10620386 10620386 A G het . 34 +line42734 nonsynonymous SNV JAG1:NM_000214:exon23:c.G2774T:p.C925F, chr20 10622250 10622250 C A het . 14 +line42737 nonsynonymous SNV JAG1:NM_000214:exon22:c.C2612G:p.P871R, chr20 10622501 10622501 G C het . 21 +line42739 synonymous SNV JAG1:NM_000214:exon17:c.A2214C:p.T738T, chr20 10625804 10625804 T G het . 30 +line42743 synonymous SNV JAG1:NM_000214:exon5:c.A744G:p.P248P, chr20 10637057 10637057 T C het . 27 +line42746 synonymous SNV JAG1:NM_000214:exon2:c.G267A:p.G89G, chr20 10653469 10653469 C T het . 34 +line42818 synonymous SNV SPTLC3:NM_018327:exon2:c.A289C:p.R97R,SPTLC3:NM_001349945:exon3:c.A289C:p.R97R, chr20 13029764 13029764 A C het . 15 +line42826 nonsynonymous SNV SPTLC3:NM_018327:exon3:c.T418G:p.L140V,SPTLC3:NM_001349945:exon4:c.T418G:p.L140V, chr20 13053018 13053018 T G het . 13 +line42827 synonymous SNV SPTLC3:NM_018327:exon3:c.A435G:p.S145S,SPTLC3:NM_001349945:exon4:c.A435G:p.S145S, chr20 13053035 13053035 A G het . 9 +line42833 synonymous SNV SPTLC3:NM_018327:exon10:c.T1398C:p.Y466Y,SPTLC3:NM_001349945:exon11:c.T1398C:p.Y466Y, chr20 13134768 13134768 T C het . 17 +line42854 nonsynonymous SNV ESF1:NM_016649:exon14:c.A2470C:p.I824L,ESF1:NM_001276380:exon14:c.A2470C:p.I824L, chr20 13695607 13695607 T G het . 36 +line42860 nonsynonymous SNV ESF1:NM_016649:exon8:c.T1649C:p.I550T,ESF1:NM_001276380:exon8:c.T1649C:p.I550T, chr20 13747441 13747441 A G het . 24 +line42880 synonymous SNV SEL1L2:NM_001363752:exon14:c.T939C:p.L313L,SEL1L2:NM_001271539:exon15:c.T1332C:p.L444L, chr20 13847420 13847420 A G het . 16 +line42908 nonsynonymous SNV FLRT3:NM_198391:exon3:c.C1200A:p.H400Q,FLRT3:NM_013281:exon2:c.C1200A:p.H400Q, chr20 14306953 14306953 G T het . 5 +line42987 nonsynonymous SNV MACROD2:NM_080676:exon14:c.C1004T:p.T335M,MACROD2:NM_001351661:exon14:c.C1004T:p.T335M,MACROD2:NM_001351664:exon11:c.C380T:p.T127M,MACROD2:NM_001033087:exon10:c.C299T:p.T100M,MACROD2:NM_001351663:exon14:c.C1004T:p.T335M, chr20 15967390 15967390 C T het . 9 +line43005 nonsynonymous SNV KIF16B:NM_001199866:exon23:c.G3784T:p.D1262Y, chr20 16348186 16348186 C A het . 18 +line43007 nonsynonymous SNV KIF16B:NM_001199865:exon19:c.T3080C:p.M1027T,KIF16B:NM_024704:exon19:c.T3080C:p.M1027T,KIF16B:NM_001199866:exon19:c.T3080C:p.M1027T, chr20 16359567 16359567 A G het . 17 +line43011 synonymous SNV KIF16B:NM_001199865:exon13:c.T1371A:p.I457I,KIF16B:NM_024704:exon13:c.T1371A:p.I457I,KIF16B:NM_001199866:exon13:c.T1371A:p.I457I, chr20 16410559 16410559 A T het . 27 +line43015 synonymous SNV KIF16B:NM_001199865:exon8:c.C837T:p.L279L,KIF16B:NM_024704:exon8:c.C837T:p.L279L,KIF16B:NM_001199866:exon8:c.C837T:p.L279L, chr20 16486698 16486698 G A het . 30 +line43016 synonymous SNV KIF16B:NM_001199865:exon5:c.A384G:p.G128G,KIF16B:NM_024704:exon5:c.A384G:p.G128G,KIF16B:NM_001199866:exon5:c.A384G:p.G128G, chr20 16493533 16493533 T C het . 21 +line43031 nonsynonymous SNV OTOR:NM_020157:exon1:c.T2C:p.M1T, chr20 16729048 16729048 T C het . 16 +line43066 synonymous SNV PCSK2:NM_001201528:exon9:c.C813T:p.A271A,PCSK2:NM_002594:exon8:c.C870T:p.A290A,PCSK2:NM_001201529:exon7:c.C765T:p.A255A, chr20 17417513 17417513 C T het . 6 +line43067 synonymous SNV PCSK2:NM_001201528:exon10:c.C1014T:p.N338N,PCSK2:NM_002594:exon9:c.C1071T:p.N357N,PCSK2:NM_001201529:exon8:c.C966T:p.N322N, chr20 17434572 17434572 C T het . 20 +line43070 synonymous SNV BFSP1:NM_001195:exon8:c.A1749G:p.P583P,BFSP1:NM_001278608:exon10:c.A1332G:p.P444P,BFSP1:NM_001278606:exon9:c.A1332G:p.P444P,BFSP1:NM_001161705:exon8:c.A1374G:p.P458P,BFSP1:NM_001278607:exon8:c.A1416G:p.P472P, chr20 17474968 17474968 T C het . 3 +line43071 synonymous SNV BFSP1:NM_001195:exon8:c.G1500A:p.A500A,BFSP1:NM_001278608:exon10:c.G1083A:p.A361A,BFSP1:NM_001278606:exon9:c.G1083A:p.A361A,BFSP1:NM_001161705:exon8:c.G1125A:p.A375A,BFSP1:NM_001278607:exon8:c.G1167A:p.A389A, chr20 17475217 17475217 C T het . 22 +line43072 nonsynonymous SNV BFSP1:NM_001195:exon8:c.G1438T:p.V480L,BFSP1:NM_001278608:exon10:c.G1021T:p.V341L,BFSP1:NM_001278606:exon9:c.G1021T:p.V341L,BFSP1:NM_001161705:exon8:c.G1063T:p.V355L,BFSP1:NM_001278607:exon8:c.G1105T:p.V369L, chr20 17475279 17475279 C A het . 16 +line43073 nonsynonymous SNV BFSP1:NM_001195:exon7:c.G1033A:p.G345S,BFSP1:NM_001278608:exon9:c.G616A:p.G206S,BFSP1:NM_001278606:exon8:c.G616A:p.G206S,BFSP1:NM_001161705:exon7:c.G658A:p.G220S,BFSP1:NM_001278607:exon7:c.G700A:p.G234S, chr20 17477592 17477592 C T het . 7 +line43086 nonsynonymous SNV RRBP1:NM_004587:exon19:c.C2297T:p.S766L,RRBP1:NM_001042576:exon20:c.C2297T:p.S766L, chr20 17600357 17600357 G A het . 12 +line43088 nonsynonymous SNV RRBP1:NM_004587:exon13:c.T1829A:p.L610H,RRBP1:NM_001042576:exon14:c.T1829A:p.L610H, chr20 17605240 17605240 A T het . 12 +line43093 nonsynonymous SNV BANF2:NM_178477:exon3:c.A7G:p.N3D,BANF2:NM_001159495:exon2:c.A28G:p.N10D,BANF2:NM_001014977:exon2:c.A7G:p.N3D, chr20 17705677 17705677 A G het . 15 +line43095 nonsynonymous SNV BANF2:NM_178477:exon4:c.C233G:p.T78S,BANF2:NM_001159495:exon3:c.C254G:p.T85S,BANF2:NM_001014977:exon3:c.C233G:p.T78S, chr20 17716416 17716416 C G het . 14 +line43108 synonymous SNV SNX5:NM_152227:exon7:c.G543A:p.E181E,SNX5:NM_001282454:exon6:c.G228A:p.E76E,SNX5:NM_014426:exon6:c.G543A:p.E181E, chr20 17932210 17932210 C T het . 27 +line43113 synonymous SNV MGME1:NM_052865:exon4:c.T846C:p.D282D,MGME1:NM_001310338:exon5:c.T891C:p.D297D,MGME1:NM_001363738:exon4:c.T606C:p.D202D, chr20 17968923 17968923 T C het . 12 +line43114 nonsynonymous SNV MGME1:NM_052865:exon5:c.A955G:p.T319A,MGME1:NM_001310338:exon6:c.A1000G:p.T334A,MGME1:NM_001310339:exon3:c.A602G:p.D201G,MGME1:NM_001363738:exon5:c.A715G:p.T239A, chr20 17970672 17970672 A G het . 23 +line43126 nonsynonymous SNV KAT14:NM_020536:exon6:c.T1199G:p.V400G, chr20 18143117 18143117 T G het . 23 +line43129 synonymous SNV KAT14:NM_020536:exon10:c.T2223C:p.P741P, chr20 18167977 18167977 T C het . 10 +line43139 nonsynonymous SNV ZNF133:NM_001352455:exon6:c.T577A:p.S193T,ZNF133:NM_001352460:exon8:c.T388A:p.S130T,ZNF133:NM_001352450:exon10:c.T388A:p.S130T,ZNF133:NM_001352453:exon2:c.T523A:p.S175T,ZNF133:NM_001282999:exon4:c.T577A:p.S193T,ZNF133:NM_001283004:exon5:c.T388A:p.S130T,ZNF133:NM_001352459:exon6:c.T574A:p.S192T,ZNF133:NM_001283005:exon2:c.T520A:p.S174T,ZNF133:NM_001352451:exon4:c.T574A:p.S192T,ZNF133:NM_001352452:exon7:c.T577A:p.S193T,ZNF133:NM_001352456:exon7:c.T574A:p.S192T,ZNF133:NM_001352464:exon7:c.T577A:p.S193T,ZNF133:NM_001283000:exon5:c.T577A:p.S193T,ZNF133:NM_001283002:exon5:c.T586A:p.S196T,ZNF133:NM_001283003:exon5:c.T388A:p.S130T,ZNF133:NM_003434:exon7:c.T574A:p.S192T,ZNF133:NM_001283007:exon3:c.T616A:p.S206T,ZNF133:NM_001282997:exon5:c.T577A:p.S193T,ZNF133:NM_001283008:exon4:c.T292A:p.S98T,ZNF133:NM_001352462:exon8:c.T385A:p.S129T,ZNF133:NM_001352458:exon8:c.T574A:p.S192T,ZNF133:NM_001352457:exon5:c.T574A:p.S192T,ZNF133:NM_001283001:exon5:c.T577A:p.S193T,ZNF133:NM_001352463:exon6:c.T577A:p.S193T,ZNF133:NM_001282995:exon6:c.T574A:p.S192T,ZNF133:NM_001352454:exon6:c.T577A:p.S193T,ZNF133:NM_001083330:exon4:c.T574A:p.S192T,ZNF133:NM_001282998:exon4:c.T577A:p.S193T,ZNF133:NM_001352461:exon7:c.T388A:p.S130T,ZNF133:NM_001283006:exon3:c.T598A:p.S200T,ZNF133:NM_001282996:exon6:c.T628A:p.S210T, chr20 18296072 18296072 T A het . 16 +line43154 synonymous SNV DZANK1:NM_001351684:exon13:c.G1467C:p.L489L,DZANK1:NM_001099407:exon13:c.G1410C:p.L470L,DZANK1:NM_001351683:exon13:c.G1494C:p.L498L, chr20 18393312 18393312 C G het . 19 +line43156 nonsynonymous SNV DZANK1:NM_001351684:exon11:c.G1117A:p.G373S,DZANK1:NM_001099407:exon11:c.G1060A:p.G354S,DZANK1:NM_001351683:exon11:c.G1144A:p.G382S, chr20 18395988 18395988 C T het . 3 +line43157 synonymous SNV DZANK1:NM_001351684:exon9:c.T858C:p.C286C,DZANK1:NM_001099407:exon9:c.T801C:p.C267C,DZANK1:NM_001351683:exon9:c.T885C:p.C295C, chr20 18414356 18414356 A G het . 14 +line43165 synonymous SNV DZANK1:NM_001351684:exon2:c.T40C:p.L14L,DZANK1:NM_001099407:exon2:c.T40C:p.L14L,DZANK1:NM_001351683:exon2:c.T67C:p.L23L, chr20 18445963 18445963 A G het . 18 +line43170 synonymous SNV POLR3F:NM_006466:exon8:c.A840G:p.T280T,POLR3F:NM_001282526:exon8:c.A717G:p.T239T, chr20 18462421 18462421 A G het . 8 +line43231 nonsynonymous SNV SLC24A3:NM_020689:exon2:c.G163A:p.V55I, chr20 19261623 19261623 G A het . 17 +line43245 synonymous SNV SLC24A3:NM_020689:exon4:c.G369A:p.A123A, chr20 19560664 19560664 G A het . 16 +line43250 synonymous SNV SLC24A3:NM_020689:exon7:c.G639A:p.L213L, chr20 19634732 19634732 G A het . 9 +line43251 synonymous SNV SLC24A3:NM_020689:exon7:c.T654C:p.I218I, chr20 19634747 19634747 T C het . 9 +line43278 nonsynonymous SNV RIN2:NM_001242581:exon7:c.T736A:p.S246T,RIN2:NM_018993:exon6:c.T589A:p.S197T, chr20 19951534 19951534 T A het . 18 +line43281 synonymous SNV NAA20:NM_181527:exon3:c.T90C:p.Y30Y,NAA20:NM_016100:exon3:c.T126C:p.Y42Y,NAA20:NM_181528:exon3:c.T126C:p.Y42Y, chr20 20006368 20006368 T C het . 17 +line43286 nonsynonymous SNV CRNKL1:NM_016652:exon2:c.A472G:p.T158A,CRNKL1:NM_001278625:exon2:c.A436G:p.T146A, chr20 20032998 20032998 T C het . 28 +line43287 nonsynonymous SNV CRNKL1:NM_016652:exon2:c.A333T:p.Q111H,CRNKL1:NM_001278625:exon2:c.A297T:p.Q99H, chr20 20033137 20033137 T A het . 32 +line43288 synonymous SNV CRNKL1:NM_016652:exon2:c.T228A:p.V76V,CRNKL1:NM_001278625:exon2:c.T192A:p.V64V, chr20 20033242 20033242 A T het . 23 +line43289 nonsynonymous SNV CRNKL1:NM_016652:exon2:c.T151C:p.F51L,CRNKL1:NM_001278625:exon2:c.T115C:p.F39L, chr20 20033319 20033319 A G het . 15 +line43290 nonsynonymous SNV CRNKL1:NM_016652:exon2:c.G103C:p.G35R, chr20 20033367 20033367 C G het . 4 +line43291 synonymous SNV CRNKL1:NM_016652:exon2:c.T90C:p.S30S, chr20 20033380 20033380 A G het . 4 +line43308 nonsynonymous SNV CFAP61:NM_015585:exon11:c.G1105A:p.V369I,CFAP61:NM_001167816:exon10:c.G1105A:p.V369I, chr20 20144772 20144772 G A het . 7 +line43319 synonymous SNV CFAP61:NM_015585:exon22:c.C2652T:p.S884S, chr20 20257958 20257958 C T het . 13 +line43343 unknown UNKNOWN chr20 21142523 21142523 C G het . 5 +line43344 unknown UNKNOWN chr20 21142813 21142813 T C het . 6 +line43349 unknown UNKNOWN chr20 21186161 21186161 - G het . 11 +line43409 synonymous SNV FOXA2:NM_021784:exon2:c.A1206G:p.Q402Q,FOXA2:NM_153675:exon3:c.A1188G:p.Q396Q, chr20 22562674 22562674 T C het . 13 +line43426 nonsynonymous SNV THBD:NM_000361:exon1:c.C1418T:p.A473V, chr20 23028724 23028724 G A het . 18 +line43429 synonymous SNV CD93:NM_012072:exon1:c.T1488C:p.R496R, chr20 23065342 23065342 A G het . 4 +line43445 nonsynonymous SNV CSTL1:NM_138283:exon3:c.T262C:p.W88R, chr20 23424613 23424613 T C het . 19 +line43447 synonymous SNV CST8:NM_005492:exon2:c.A87G:p.T29T,CST8:NM_001281730:exon2:c.A87G:p.T29T, chr20 23472391 23472391 A G het . 23 +line43448 nonsynonymous SNV CST8:NM_005492:exon2:c.C110T:p.P37L,CST8:NM_001281730:exon2:c.C110T:p.P37L, chr20 23472414 23472414 C T het . 34 +line43462 synonymous SNV CST3:NM_001288614:exon1:c.A105G:p.L35L,CST3:NM_000099:exon1:c.A105G:p.L35L, chr20 23618395 23618395 T C het . 12 +line43463 nonsynonymous SNV CST3:NM_001288614:exon1:c.G73A:p.A25T,CST3:NM_000099:exon1:c.G73A:p.A25T, chr20 23618427 23618427 C T het . 9 +line43465 synonymous SNV CST1:NM_001898:exon2:c.C273A:p.R91R, chr20 23729722 23729722 G T het . 2 +line43466 nonsynonymous SNV CST1:NM_001898:exon1:c.T10C:p.Y4H, chr20 23731494 23731494 A G het . 4 +line43473 nonsynonymous SNV CST5:NM_001900:exon1:c.T136C:p.C46R, chr20 23860178 23860178 A G het . 21 +line43479 synonymous SNV GGTLC1:NM_178311:exon2:c.C9T:p.S3S,GGTLC1:NM_178312:exon2:c.C9T:p.S3S, chr20 23967240 23967240 G A het . 7 +line43505 synonymous SNV CST7:NM_003650:exon3:c.G270C:p.L90L, chr20 24939590 24939590 G C het . 22 +line43516 synonymous SNV ACSS1:NM_001252676:exon6:c.G846A:p.K282K,ACSS1:NM_001252677:exon7:c.G1209A:p.K403K,ACSS1:NM_032501:exon7:c.G1209A:p.K403K,ACSS1:NM_001252675:exon7:c.G1209A:p.K403K, chr20 25000683 25000683 C T het . 18 +line43519 synonymous SNV ACSS1:NM_001252676:exon2:c.A240G:p.A80A,ACSS1:NM_001252677:exon3:c.A603G:p.A201A,ACSS1:NM_032501:exon3:c.A603G:p.A201A,ACSS1:NM_001252675:exon3:c.A603G:p.A201A, chr20 25011423 25011423 T C het . 4 +line43524 synonymous SNV ACSS1:NM_001252677:exon1:c.C255A:p.T85T,ACSS1:NM_032501:exon1:c.C255A:p.T85T,ACSS1:NM_001252675:exon1:c.C255A:p.T85T, chr20 25038484 25038484 G T het . 12 +line43527 nonsynonymous SNV VSX1:NM_199425:exon3:c.G650A:p.R217H, chr20 25059442 25059442 C T het . 25 +line43533 nonsynonymous SNV ENTPD6:NM_001322388:exon2:c.G41A:p.S14N,ENTPD6:NM_001317941:exon2:c.G41A:p.S14N,ENTPD6:NM_001247:exon2:c.G41A:p.S14N,ENTPD6:NM_001322397:exon2:c.G41A:p.S14N,ENTPD6:NM_001322378:exon2:c.G41A:p.S14N,ENTPD6:NM_001322390:exon3:c.G41A:p.S14N,ENTPD6:NM_001322391:exon2:c.G41A:p.S14N,ENTPD6:NM_001322387:exon2:c.G41A:p.S14N,ENTPD6:NM_001322396:exon2:c.G41A:p.S14N, chr20 25187213 25187213 G A het . 26 +line43537 synonymous SNV ENTPD6:NM_001322388:exon5:c.G504A:p.P168P,ENTPD6:NM_001322394:exon4:c.G450A:p.P150P,ENTPD6:NM_001322389:exon4:c.G495A:p.P165P,ENTPD6:NM_001322398:exon4:c.G495A:p.P165P,ENTPD6:NM_001322393:exon4:c.G453A:p.P151P,ENTPD6:NM_001317941:exon5:c.G501A:p.P167P,ENTPD6:NM_001247:exon5:c.G504A:p.P168P,ENTPD6:NM_001114089:exon4:c.G453A:p.P151P,ENTPD6:NM_001322392:exon4:c.G450A:p.P150P,ENTPD6:NM_001322397:exon5:c.G504A:p.P168P,ENTPD6:NM_001322378:exon5:c.G504A:p.P168P,ENTPD6:NM_001322390:exon6:c.G504A:p.P168P,ENTPD6:NM_001322391:exon5:c.G504A:p.P168P,ENTPD6:NM_001322386:exon4:c.G453A:p.P151P,ENTPD6:NM_001322395:exon4:c.G495A:p.P165P,ENTPD6:NM_001322396:exon5:c.G501A:p.P167P, chr20 25193949 25193949 G A het . 12 +line43539 nonsynonymous SNV ENTPD6:NM_001322388:exon6:c.A604G:p.K202E,ENTPD6:NM_001322385:exon4:c.A409G:p.K137E,ENTPD6:NM_001322394:exon5:c.A550G:p.K184E,ENTPD6:NM_001322389:exon5:c.A595G:p.K199E,ENTPD6:NM_001322398:exon5:c.A595G:p.K199E,ENTPD6:NM_001322393:exon5:c.A553G:p.K185E,ENTPD6:NM_001317941:exon6:c.A601G:p.K201E,ENTPD6:NM_001247:exon6:c.A604G:p.K202E,ENTPD6:NM_001114089:exon5:c.A553G:p.K185E,ENTPD6:NM_001322392:exon5:c.A550G:p.K184E,ENTPD6:NM_001322397:exon6:c.A604G:p.K202E,ENTPD6:NM_001322378:exon6:c.A604G:p.K202E,ENTPD6:NM_001322390:exon7:c.A604G:p.K202E,ENTPD6:NM_001322391:exon6:c.A604G:p.K202E,ENTPD6:NM_001322387:exon5:c.A460G:p.K154E,ENTPD6:NM_001322386:exon5:c.A553G:p.K185E,ENTPD6:NM_001322395:exon5:c.A595G:p.K199E,ENTPD6:NM_001322396:exon6:c.A601G:p.K201E, chr20 25195509 25195509 A G het . 16 +line43546 nonsynonymous SNV PYGB:NM_002862:exon8:c.G907T:p.A303S, chr20 25259006 25259006 G T het . 14 +line43548 synonymous SNV PYGB:NM_002862:exon10:c.A1122G:p.A374A, chr20 25260931 25260931 A G het . 6 +line43551 nonsynonymous SNV PYGB:NM_002862:exon12:c.G1504A:p.D502N, chr20 25262769 25262769 G A het . 9 +line43553 synonymous SNV PYGB:NM_002862:exon14:c.T1695C:p.D565D, chr20 25264814 25264814 T C het . 16 +line43558 nonsynonymous SNV ABHD12:NM_015600:exon13:c.G1169T:p.G390V, chr20 25275655 25275655 C A het . 24 +line43559 synonymous SNV PYGB:NM_002862:exon19:c.G2370A:p.Q790Q, chr20 25276297 25276297 G A het . 20 +line43562 synonymous SNV ABHD12:NM_015600:exon12:c.T1068C:p.D356D,ABHD12:NM_001042472:exon12:c.T1068C:p.D356D, chr20 25282944 25282944 A G het . 30 +line43566 synonymous SNV ABHD12:NM_015600:exon9:c.C837T:p.R279R,ABHD12:NM_001042472:exon9:c.C837T:p.R279R, chr20 25288632 25288632 G A het . 22 +line43579 nonsynonymous SNV GINS1:NM_021067:exon4:c.G289A:p.V97I, chr20 25398790 25398790 G A het . 19 +line43589 synonymous SNV NINL:NM_025176:exon17:c.T3039C:p.S1013S, chr20 25456888 25456888 A G het . 10 +line43590 nonframeshift deletion NINL:NM_025176:exon17:c.2872_2877del:p.958_959del, chr20 25457050 25457055 CTCCCA - het . 5 +line43823 synonymous SNV TPX2:NM_012112:exon5:c.G288A:p.P96P, chr20 30354417 30354417 G A het . 13 +line43826 synonymous SNV TPX2:NM_012112:exon14:c.G1617C:p.S539S, chr20 30381758 30381758 G C het . 20 +line43828 synonymous SNV TPX2:NM_012112:exon15:c.A1797G:p.R599R, chr20 30382315 30382315 A G het . 18 +line43834 synonymous SNV FOXS1:NM_004118:exon1:c.C207T:p.N69N, chr20 30433139 30433139 G A het . 32 +line43837 nonsynonymous SNV DUSP15:NM_001012644:exon7:c.G280C:p.V94L,DUSP15:NM_080611:exon7:c.G589C:p.V197L,DUSP15:NM_177991:exon7:c.G280C:p.V94L,DUSP15:NM_001320478:exon7:c.G580C:p.V194L, chr20 30449325 30449325 C G het . 10 +line43840 synonymous SNV DUSP15:NM_080611:exon4:c.G162A:p.P54P,DUSP15:NM_001320478:exon4:c.G153A:p.P51P,DUSP15:NM_001320479:exon4:c.G153A:p.P51P, chr20 30452782 30452782 C T het . 13 +line43842 synonymous SNV TTLL9:NM_001008409:exon14:c.T1239C:p.H413H, chr20 30527065 30527065 T C het . 4 +line43844 synonymous SNV CCM2L:NM_080625:exon7:c.G1107A:p.A369A, chr20 30616835 30616835 G A het . 15 +line43847 nonsynonymous SNV HCK:NM_001172132:exon13:c.C1295A:p.T432N,HCK:NM_001172133:exon13:c.C1292A:p.T431N,HCK:NM_002110:exon12:c.C1355A:p.T452N,HCK:NM_001172131:exon12:c.C1289A:p.T430N,HCK:NM_001172129:exon12:c.C1292A:p.T431N,HCK:NM_001172130:exon12:c.C1352A:p.T451N, chr20 30686915 30686915 C A het . 18 +line43856 synonymous SNV POFUT1:NM_015352:exon1:c.T75C:p.P25P,POFUT1:NM_172236:exon1:c.T75C:p.P25P, chr20 30795819 30795819 T C het . 21 +line43861 synonymous SNV KIF3B:NM_004798:exon7:c.T1965C:p.Y655Y, chr20 30915461 30915461 T C het . 10 +line43865 nonsynonymous SNV ASXL1:NM_001363734:exon11:c.T2261C:p.L754P,ASXL1:NM_015338:exon12:c.T2444C:p.L815P, chr20 31022959 31022959 T C het . 33 +line43893 nonsynonymous SNV EFCAB8:NM_001143967:exon5:c.C352T:p.R118C, chr20 31466534 31466534 C T het . 15 +line43900 nonsynonymous SNV EFCAB8:NM_001143967:exon12:c.G1103A:p.R368H, chr20 31494382 31494382 G A het . 20 +line43902 nonsynonymous SNV EFCAB8:NM_001143967:exon18:c.C1939T:p.R647W, chr20 31505189 31505189 C T het . 13 +line43903 nonsynonymous SNV EFCAB8:NM_001143967:exon18:c.C2042T:p.S681L, chr20 31505292 31505292 C T het . 11 +line43905 nonsynonymous SNV EFCAB8:NM_001143967:exon21:c.A2507G:p.E836G, chr20 31518298 31518298 A G het . 35 +line43915 nonsynonymous SNV SUN5:NM_080675:exon2:c.G117T:p.E39D, chr20 31590686 31590686 C A het . 11 +line43918 synonymous SNV BPIFB2:NM_025227:exon15:c.C1311T:p.V437V, chr20 31609581 31609581 C T het . 23 +line43919 nonsynonymous SNV BPIFB6:NM_174897:exon1:c.C47T:p.T16M, chr20 31619500 31619500 C T het . 20 +line43923 nonsynonymous SNV BPIFB6:NM_174897:exon3:c.G289A:p.V97I, chr20 31622083 31622083 G A het . 13 +line43924 synonymous SNV BPIFB6:NM_174897:exon7:c.C627T:p.S209S, chr20 31624300 31624300 C T het . 10 +line43930 nonsynonymous SNV BPIFB3:NM_182658:exon8:c.C869T:p.T290M, chr20 31652596 31652596 C T het . 8 +line43935 nonsynonymous SNV BPIFB3:NM_182658:exon14:c.C1345T:p.P449S, chr20 31660543 31660543 C T het . 24 +line43936 nonsynonymous SNV BPIFB4:NM_182519:exon3:c.A596G:p.D199G, chr20 31671599 31671599 A G het . 15 +line43937 synonymous SNV BPIFB4:NM_182519:exon3:c.T660C:p.T220T, chr20 31671663 31671663 T C het . 5 +line43940 synonymous SNV BPIFB4:NM_182519:exon8:c.T1072C:p.L358L, chr20 31678534 31678534 T C het . 15 +line43943 nonsynonymous SNV BPIFB4:NM_182519:exon12:c.T1579C:p.F527L, chr20 31688241 31688241 T C het . 14 +line43944 nonsynonymous SNV BPIFB4:NM_182519:exon12:c.C1598T:p.T533I, chr20 31688260 31688260 C T het . 12 +line43947 nonsynonymous SNV BPIFA3:NM_001042439:exon3:c.G298A:p.V100I,BPIFA3:NM_178466:exon4:c.G406A:p.V136I, chr20 31812923 31812923 G A het . 8 +line43954 nonsynonymous SNV BPIFB1:NM_033197:exon3:c.T185C:p.M62T, chr20 31876616 31876616 T C het . 9 +line43955 nonsynonymous SNV BPIFB1:NM_033197:exon3:c.A250G:p.I84V, chr20 31876681 31876681 A G het . 4 +line43956 nonsynonymous SNV BPIFB1:NM_033197:exon4:c.A280T:p.I94F, chr20 31877713 31877713 A T het . 12 +line43958 nonsynonymous SNV BPIFB1:NM_033197:exon16:c.G1436C:p.S479T, chr20 31897554 31897554 G C het . 21 +line43963 synonymous SNV CDK5RAP1:NM_001278167:exon4:c.A432G:p.T144T,CDK5RAP1:NM_001278168:exon4:c.A432G:p.T144T,CDK5RAP1:NM_001278169:exon4:c.A351G:p.T117T,CDK5RAP1:NM_016082:exon4:c.A435G:p.T145T,CDK5RAP1:NM_016408:exon4:c.A432G:p.T144T, chr20 31981849 31981849 T C het . 25 +line43969 synonymous SNV CBFA2T2:NM_001032999:exon3:c.T348C:p.T116T,CBFA2T2:NM_001039709:exon3:c.T288C:p.T96T,CBFA2T2:NM_005093:exon4:c.T375C:p.T125T, chr20 32199069 32199069 T C het . 21 +line43971 synonymous SNV ZNF341:NM_032819:exon15:c.T2484C:p.A828A,ZNF341:NM_001282935:exon14:c.T2235C:p.A745A,ZNF341:NM_001282933:exon15:c.T2505C:p.A835A, chr20 32379263 32379263 T C het . 8 +line43988 nonframeshift insertion RALY:NM_007367:exon7:c.641_642insCAG:p.A214delinsAS,RALY:NM_016732:exon8:c.689_690insCAG:p.A230delinsAS, chr20 32664864 32664864 - CAG het . 6 +line43989 nonsynonymous SNV RALY:NM_007367:exon7:c.G703A:p.G235S,RALY:NM_016732:exon8:c.G751A:p.G251S, chr20 32664926 32664926 G A het . 11 +line44030 synonymous SNV NCOA6:NM_014071:exon11:c.C3180T:p.P1060P,NCOA6:NM_001318240:exon12:c.C3180T:p.P1060P, chr20 33330880 33330880 G A het . 9 +line44031 synonymous SNV NCOA6:NM_001242539:exon7:c.A2247G:p.P749P,NCOA6:NM_014071:exon9:c.A2247G:p.P749P,NCOA6:NM_001318240:exon10:c.A2247G:p.P749P, chr20 33337751 33337751 T C het . 13 +line44037 synonymous SNV GGT7:NM_001351702:exon2:c.C373T:p.L125L,GGT7:NM_178026:exon2:c.C373T:p.L125L, chr20 33451148 33451148 G A het . 10 +line44039 synonymous SNV ACSS2:NM_018677:exon2:c.C276T:p.F92F,ACSS2:NM_001076552:exon2:c.C276T:p.F92F, chr20 33470694 33470694 C T het . 18 +line44041 synonymous SNV ACSS2:NM_018677:exon10:c.C1272A:p.V424V,ACSS2:NM_001242393:exon10:c.C987A:p.V329V,ACSS2:NM_001076552:exon11:c.C1311A:p.V437V, chr20 33508937 33508937 C A het . 18 +line44049 nonsynonymous SNV MYH7B:NM_020884:exon5:c.G73A:p.A25T, chr20 33565755 33565755 G A het . 16 +line44052 synonymous SNV MYH7B:NM_020884:exon24:c.T2284C:p.L762L, chr20 33578899 33578899 T C het . 4 +line44053 synonymous SNV MYH7B:NM_020884:exon27:c.G2577A:p.A859A, chr20 33581955 33581955 G A het . 4 +line44055 nonsynonymous SNV MYH7B:NM_020884:exon28:c.A3019G:p.K1007E, chr20 33583331 33583331 A G het . 28 +line44059 synonymous SNV MYH7B:NM_020884:exon32:c.C3867T:p.R1289R, chr20 33585437 33585437 C T het . 6 +line44060 synonymous SNV MYH7B:NM_020884:exon38:c.G4794A:p.G1598G, chr20 33587596 33587596 G A het . 8 +line44078 synonymous SNV TRPC4AP:NM_015638:exon3:c.C387T:p.Y129Y,TRPC4AP:NM_199368:exon3:c.C387T:p.Y129Y, chr20 33657126 33657126 G A het . 25 +line44087 nonsynonymous SNV PROCR:NM_006404:exon4:c.A655G:p.S219G, chr20 33764554 33764554 A G het . 29 +line44093 nonsynonymous SNV UQCC1:NM_018244:exon3:c.G152A:p.R51Q,UQCC1:NM_199487:exon3:c.G152A:p.R51Q, chr20 33971914 33971914 C T het . 14 +line44101 nonsynonymous SNV GDF5OS:NM_001355428:exon2:c.A431C:p.E144A,GDF5:NM_001319138:exon4:c.T826G:p.S276A,GDF5:NM_000557:exon2:c.T826G:p.S276A, chr20 34022387 34022387 A C het . 4 +line44110 synonymous SNV CEP250:NM_007186:exon30:c.G4782A:p.T1594T,CEP250:NM_001318219:exon28:c.G2886A:p.T962T, chr20 34090979 34090979 G A het . 20 +line44114 nonsynonymous SNV C20orf173:NM_001145350:exon4:c.A580G:p.K194E, chr20 34116282 34116282 T C het . 16 +line44128 synonymous SNV SPAG4:NM_003116:exon1:c.C48T:p.H16H, chr20 34203973 34203973 C T het . 15 +line44130 synonymous SNV CPNE1:NM_152926:exon15:c.A1239G:p.Q413Q,CPNE1:NM_152928:exon16:c.A1239G:p.Q413Q,CPNE1:NM_152925:exon15:c.A1239G:p.Q413Q,CPNE1:NM_152927:exon16:c.A1239G:p.Q413Q,CPNE1:NM_003915:exon15:c.A1254G:p.Q418Q, chr20 34214723 34214723 T C het . 11 +line44139 nonsynonymous SNV PHF20:NM_016436:exon3:c.C235A:p.H79N, chr20 34430646 34430646 C A het . 11 +line44142 nonsynonymous SNV EPB41L1:NM_001258329:exon5:c.T424G:p.F142V,EPB41L1:NM_001258330:exon5:c.T331G:p.F111V,EPB41L1:NM_177996:exon4:c.T238G:p.F80V,EPB41L1:NM_001258331:exon4:c.T238G:p.F80V,EPB41L1:NM_012156:exon4:c.T424G:p.F142V, chr20 34765955 34765955 T G het . 35 +line44145 nonsynonymous SNV EPB41L1:NM_001258329:exon16:c.C2060T:p.P687L,EPB41L1:NM_177996:exon14:c.C1838T:p.P613L,EPB41L1:NM_001258331:exon14:c.C1838T:p.P613L,EPB41L1:NM_012156:exon15:c.C2060T:p.P687L, chr20 34797801 34797801 C T het . 11 +line44151 synonymous SNV DLGAP4:NM_014902:exon3:c.A801C:p.P267P, chr20 35060921 35060921 A C het . 7 +line44152 synonymous SNV DLGAP4:NM_014902:exon3:c.A804C:p.P268P, chr20 35060924 35060924 A C het . 7 +line44153 synonymous SNV DLGAP4:NM_014902:exon3:c.G810C:p.P270P, chr20 35060930 35060930 G C het . 7 +line44160 nonsynonymous SNV SOGA1:NM_080627:exon8:c.G2787T:p.L929F,SOGA1:NM_199181:exon8:c.G2073T:p.L691F, chr20 35436943 35436943 C A het . 21 +line44163 nonsynonymous SNV SOGA1:NM_080627:exon1:c.T197C:p.F66S, chr20 35491551 35491551 A G het . 9 +line44164 synonymous SNV TLDC2:NM_001304783:exon3:c.G288A:p.R96R,TLDC2:NM_080628:exon3:c.G288A:p.R96R, chr20 35507542 35507542 G A het . 9 +line44182 unknown UNKNOWN chr20 35740794 35740794 T C het . 11 +line44188 unknown UNKNOWN chr20 35749348 35749349 GG AA het . 20 +line44190 unknown UNKNOWN chr20 35766337 35766337 A G het . 15 +line44191 unknown UNKNOWN chr20 35769592 35769592 T C het . 15 +line44192 unknown UNKNOWN chr20 35769647 35769647 G T het . 26 +line44194 unknown UNKNOWN chr20 35783494 35783494 T C het . 19 +line44199 unknown UNKNOWN chr20 35796541 35796541 T C het . 25 +line44222 synonymous SNV RPN2:NM_001324301:exon17:c.C1873T:p.L625L,RPN2:NM_001324303:exon16:c.C1825T:p.L609L,RPN2:NM_001324306:exon14:c.C1354T:p.L452L,RPN2:NM_001324305:exon17:c.C1873T:p.L625L,RPN2:NM_001324299:exon15:c.C1729T:p.L577L,RPN2:NM_001135771:exon15:c.C1729T:p.L577L,RPN2:NM_001324302:exon15:c.C1729T:p.L577L,RPN2:NM_002951:exon16:c.C1825T:p.L609L,RPN2:NM_001324304:exon16:c.C1825T:p.L609L, chr20 35865054 35865054 C T het . 37 +line44228 synonymous SNV SRC:NM_198291:exon12:c.G1218C:p.A406A,SRC:NM_005417:exon12:c.G1218C:p.A406A, chr20 36030939 36030939 G C het . 12 +line44255 nonsynonymous SNV TTI1:NM_001303457:exon2:c.A1835C:p.K612T,TTI1:NM_014657:exon3:c.A1835C:p.K612T, chr20 36640384 36640384 T G het . 27 +line44256 synonymous SNV TTI1:NM_001303457:exon2:c.G858A:p.K286K,TTI1:NM_014657:exon3:c.G858A:p.K286K, chr20 36641361 36641361 C T het . 33 +line44261 nonsynonymous SNV TGM2:NM_004613:exon12:c.G1794T:p.K598N,TGM2:NM_001323317:exon11:c.G1551T:p.K517N,TGM2:NM_001323316:exon13:c.G1794T:p.K598N,TGM2:NM_001323318:exon11:c.G1614T:p.K538N, chr20 36759614 36759614 C A het . 23 +line44265 synonymous SNV KIAA1755:NM_001029864:exon5:c.C1764T:p.A588A,KIAA1755:NM_001348708:exon5:c.C921T:p.A307A, chr20 36859711 36859711 G A het . 2 +line44267 nonsynonymous SNV KIAA1755:NM_001029864:exon3:c.G1017T:p.K339N, chr20 36869516 36869516 C A het . 15 +line44268 synonymous SNV KIAA1755:NM_001029864:exon3:c.A411C:p.P137P,KIAA1755:NM_001348708:exon3:c.A411C:p.P137P, chr20 36870122 36870122 T G het . 6 +line44271 nonsynonymous SNV BPI:NM_001725:exon6:c.G646A:p.E216K, chr20 36946848 36946848 G A het . 33 +line44288 synonymous SNV ARHGAP40:NM_001164431:exon4:c.C576G:p.G192G, chr20 37257590 37257590 C G het . 7 +line44367 nonsynonymous SNV PLCG1:NM_182811:exon21:c.T2438C:p.I813T,PLCG1:NM_002660:exon21:c.T2438C:p.I813T, chr20 39797465 39797465 T C het . 24 +line44370 nonsynonymous SNV ZHX3:NM_015035:exon3:c.A929G:p.N310S, chr20 39832628 39832628 T C het . 10 +line44382 synonymous SNV CHD6:NM_032221:exon34:c.G6873T:p.R2291R, chr20 40043892 40043892 C A het . 22 +line44384 nonsynonymous SNV CHD6:NM_032221:exon31:c.G5141T:p.S1714I, chr20 40050134 40050134 C A het . 19 +line44385 synonymous SNV CHD6:NM_032221:exon29:c.A4236G:p.E1412E, chr20 40053928 40053928 T C het . 42 +line44388 nonsynonymous SNV CHD6:NM_032221:exon21:c.G3136T:p.D1046Y, chr20 40081567 40081567 C A het . 20 +line44408 synonymous SNV PTPRT:NM_133170:exon29:c.C3918T:p.Y1306Y,PTPRT:NM_007050:exon28:c.C3861T:p.Y1287Y, chr20 40714479 40714479 G A het . 10 +line44434 synonymous SNV PTPRT:NM_133170:exon7:c.T1059C:p.D353D,PTPRT:NM_007050:exon7:c.T1059C:p.D353D, chr20 41306600 41306600 A G het . 23 +line44449 synonymous SNV SRSF6:NM_006275:exon4:c.G417A:p.A139A, chr20 42088708 42088708 G A het . 18 +line44450 synonymous SNV SRSF6:NM_006275:exon6:c.T843C:p.P281P, chr20 42089511 42089511 T C het . 10 +line44460 synonymous SNV IFT52:NM_016004:exon3:c.G159A:p.V53V,IFT52:NM_001303458:exon3:c.G159A:p.V53V,IFT52:NM_001303459:exon3:c.G159A:p.V53V, chr20 42225114 42225114 G A het . 15 +line44468 synonymous SNV IFT52:NM_016004:exon11:c.G1011A:p.A337A,IFT52:NM_001323578:exon11:c.G483A:p.A161A,IFT52:NM_001323581:exon12:c.G360A:p.A120A,IFT52:NM_001303458:exon11:c.G1011A:p.A337A,IFT52:NM_001323579:exon12:c.G360A:p.A120A,IFT52:NM_001323580:exon11:c.G483A:p.A161A,IFT52:NM_001303459:exon11:c.G1011A:p.A337A, chr20 42264653 42264653 G A het . 12 +line44481 synonymous SNV MYBL2:NM_002466:exon7:c.T906C:p.P302P,MYBL2:NM_001278610:exon6:c.T834C:p.P278P, chr20 42328639 42328639 T C het . 11 +line44482 nonsynonymous SNV MYBL2:NM_002466:exon8:c.A1279G:p.S427G,MYBL2:NM_001278610:exon7:c.A1207G:p.S403G, chr20 42331457 42331457 A G het . 11 +line44504 synonymous SNV JPH2:NM_020433:exon5:c.T2073C:p.F691F, chr20 42743454 42743454 A G het . 29 +line44517 synonymous SNV JPH2:NM_020433:exon1:c.C156T:p.Y52Y,JPH2:NM_175913:exon1:c.C156T:p.Y52Y, chr20 42815190 42815190 G A het . 26 +line44518 synonymous SNV OSER1:NM_016470:exon4:c.G642A:p.V214V, chr20 42825929 42825929 C T het . 16 +line44519 nonsynonymous SNV OSER1:NM_016470:exon4:c.T221G:p.V74G, chr20 42826350 42826350 A C het . 9 +line44520 synonymous SNV OSER1:NM_016470:exon4:c.G192A:p.G64G, chr20 42826379 42826379 C T het . 3 +line44522 nonsynonymous SNV FITM2:NM_001080472:exon2:c.G441T:p.W147C, chr20 42935613 42935613 C A het . 30 +line44523 synonymous SNV FITM2:NM_001080472:exon1:c.A39G:p.G13G, chr20 42939750 42939750 T C het . 16 +line44524 nonsynonymous SNV R3HDML:NM_178491:exon1:c.T44G:p.F15C, chr20 42965841 42965841 T G het . 5 +line44525 synonymous SNV R3HDML:NM_178491:exon4:c.T546C:p.C182C, chr20 42973935 42973935 T C het . 13 +line44536 synonymous SNV HNF4A:NM_001287183:exon10:c.A1071C:p.A357A,HNF4A:NM_001258355:exon10:c.A1125C:p.A375A,HNF4A:NM_001030003:exon9:c.A1080C:p.A360A,HNF4A:NM_178849:exon9:c.A1146C:p.A382A,HNF4A:NM_001287182:exon10:c.A1071C:p.A357A,HNF4A:NM_000457:exon9:c.A1146C:p.A382A,HNF4A:NM_175914:exon9:c.A1080C:p.A360A, chr20 43056991 43056991 A C het . 17 +line44543 synonymous SNV TTPAL:NM_024331:exon6:c.G864A:p.A288A,TTPAL:NM_001039199:exon5:c.G864A:p.A288A,TTPAL:NM_001261839:exon5:c.G762A:p.A254A, chr20 43118017 43118017 G A het . 30 +line44545 synonymous SNV ADA:NM_001322050:exon5:c.A129G:p.V43V,ADA:NM_001322051:exon6:c.A534G:p.V178V,ADA:NM_000022:exon6:c.A534G:p.V178V, chr20 43252915 43252915 T C het . 29 +line44546 nonsynonymous SNV ADA:NM_001322051:exon4:c.A239G:p.K80R,ADA:NM_000022:exon4:c.A239G:p.K80R, chr20 43255220 43255220 T C het . 28 +line44548 synonymous SNV ADA:NM_001322051:exon2:c.G36A:p.V12V,ADA:NM_000022:exon2:c.G36A:p.V12V, chr20 43264927 43264927 C T het . 20 +line44556 nonsynonymous SNV KCNK15:NM_022358:exon2:c.A284G:p.E95G, chr20 43378770 43378770 A G het . 5 +line44557 nonsynonymous SNV KCNK15:NM_022358:exon2:c.T968C:p.L323P, chr20 43379454 43379454 T C het . 3 +line44566 synonymous SNV YWHAB:NM_003404:exon3:c.A60C:p.R20R,YWHAB:NM_139323:exon2:c.A60C:p.R20R, chr20 43530234 43530234 A C het . 11 +line44573 nonsynonymous SNV PABPC1L:NM_001124756:exon4:c.T634G:p.S212A, chr20 43547677 43547677 T G het . 4 +line44575 synonymous SNV PABPC1L:NM_001124756:exon13:c.A1731G:p.S577S, chr20 43566787 43566787 A G het . 9 +line44585 nonsynonymous SNV KCNS1:NM_002251:exon5:c.A1465G:p.I489V,KCNS1:NM_001322799:exon4:c.A1465G:p.I489V, chr20 43723627 43723627 T C het . 24 +line44586 synonymous SNV KCNS1:NM_002251:exon4:c.G258A:p.E86E,KCNS1:NM_001322799:exon3:c.G258A:p.E86E, chr20 43727155 43727155 C T het . 10 +line44590 synonymous SNV MATN4:NM_030590:exon3:c.A348G:p.A116A,MATN4:NM_030592:exon3:c.A348G:p.A116A,MATN4:NM_003833:exon4:c.A348G:p.A116A, chr20 43933163 43933163 T C het . 11 +line44599 nonsynonymous SNV SDC4:NM_002999:exon1:c.T34C:p.F12L, chr20 43976991 43976991 A G het . 17 +line44607 nonsynonymous SNV WFDC9:NM_147198:exon3:c.A80C:p.N27T, chr20 44238741 44238741 T G het . 13 +line44610 nonsynonymous SNV WFDC10B:NM_172006:exon3:c.T23C:p.L8P, chr20 44314609 44314609 A G het . 5 +line44615 nonsynonymous SNV SPINT4:NM_178455:exon2:c.G217A:p.G73S, chr20 44352620 44352620 G A het . 13 +line44624 synonymous SNV WFDC3:NM_080614:exon3:c.T138C:p.G46G, chr20 44417643 44417643 A G het . 14 +line44625 nonsynonymous SNV WFDC3:NM_080614:exon3:c.C106G:p.H36D, chr20 44417675 44417675 G C het . 10 +line44627 synonymous SNV WFDC3:NM_080614:exon2:c.T51C:p.S17S, chr20 44418564 44418564 A G het . 16 +line44633 synonymous SNV SNX21:NM_152897:exon5:c.T594C:p.S198S, chr20 44470676 44470676 T C het . 16 +line44638 synonymous SNV ZSWIM3:NM_080752:exon2:c.C633T:p.T211T, chr20 44505830 44505830 C T het . 23 +line44639 nonsynonymous SNV ZSWIM3:NM_080752:exon2:c.T776C:p.V259A, chr20 44505973 44505973 T C het . 23 +line44640 synonymous SNV ZSWIM3:NM_080752:exon2:c.G1221A:p.R407R, chr20 44506418 44506418 G A het . 10 +line44641 synonymous SNV ZSWIM3:NM_080752:exon2:c.G1464A:p.P488P, chr20 44506661 44506661 G A het . 15 +line44645 nonframeshift deletion CTSA:NM_001127695:exon2:c.31_33del:p.11_11del,CTSA:NM_000308:exon2:c.85_87del:p.29_29del,CTSA:NM_001167594:exon2:c.85_87del:p.29_29del, chr20 44520238 44520240 CTG - het . 22 +line44646 synonymous SNV CTSA:NM_001127695:exon3:c.C219G:p.P73P,CTSA:NM_000308:exon3:c.C273G:p.P91P,CTSA:NM_001167594:exon3:c.C273G:p.P91P, chr20 44520579 44520579 C G het . 19 +line44654 synonymous SNV CTSA:NM_001127695:exon14:c.G1287A:p.K429K,CTSA:NM_000308:exon14:c.G1341A:p.K447K,CTSA:NM_001167594:exon13:c.G1290A:p.K430K, chr20 44526676 44526676 G A het . 25 +line44663 nonsynonymous SNV ZNF335:NM_022095:exon6:c.G881C:p.S294T, chr20 44596207 44596207 C G het . 26 +line44664 synonymous SNV ZNF335:NM_022095:exon5:c.C642T:p.S214S, chr20 44596545 44596545 G A het . 6 +line44669 nonsynonymous SNV MMP9:NM_004994:exon10:c.G1721C:p.R574P, chr20 44642406 44642406 G C het . 30 +line44670 synonymous SNV MMP9:NM_004994:exon11:c.A1821C:p.G607G, chr20 44642833 44642833 A C het . 8 +line44674 synonymous SNV SLC12A5:NM_001134771:exon17:c.G2169A:p.A723A,SLC12A5:NM_020708:exon17:c.G2100A:p.A700A, chr20 44678348 44678348 G A het . 10 +line44676 synonymous SNV NCOA5:NM_001348148:exon7:c.A1014C:p.T338T,NCOA5:NM_020967:exon8:c.A1329C:p.T443T, chr20 44691350 44691350 T G het . 15 +line44684 nonsynonymous SNV CD40:NM_001250:exon9:c.A683C:p.H228P,CD40:NM_001322421:exon9:c.A695C:p.H232P,CD40:NM_001322422:exon7:c.A527C:p.H176P, chr20 44757528 44757528 A C het . 13 +line44694 synonymous SNV ELMO2:NM_182764:exon21:c.T1980C:p.D660D,ELMO2:NM_001318253:exon22:c.T1716C:p.D572D,ELMO2:NM_133171:exon22:c.T1980C:p.D660D, chr20 44996182 44996182 A G het . 4 +line44701 synonymous SNV OCSTAMP:NM_080721:exon3:c.T1401C:p.S467S, chr20 45170213 45170213 A G het . 25 +line44702 synonymous SNV OCSTAMP:NM_080721:exon2:c.T987G:p.A329A, chr20 45174026 45174026 A C het . 5 +line44705 synonymous SNV SLC13A3:NM_001193339:exon9:c.C1128T:p.P376P,SLC13A3:NM_001011554:exon11:c.C1137T:p.P379P,SLC13A3:NM_001193340:exon10:c.C1032T:p.P344P,SLC13A3:NM_022829:exon10:c.C1278T:p.P426P,SLC13A3:NM_001193342:exon10:c.C984T:p.P328P, chr20 45204266 45204266 G A het . 10 +line44739 synonymous SNV ZMYND8:NM_001281778:exon19:c.T3114C:p.T1038T,ZMYND8:NM_001281779:exon20:c.T2247C:p.T749T,ZMYND8:NM_001281773:exon20:c.T3129C:p.T1043T,ZMYND8:NM_001281776:exon18:c.T2808C:p.T936T,ZMYND8:NM_001281771:exon18:c.T2733C:p.T911T,ZMYND8:NM_183048:exon19:c.T2976C:p.T992T,ZMYND8:NM_001363714:exon19:c.T3210C:p.T1070T,ZMYND8:NM_001281774:exon20:c.T2991C:p.T997T,ZMYND8:NM_001281775:exon19:c.T3189C:p.T1063T,ZMYND8:NM_001281772:exon21:c.T3129C:p.T1043T,ZMYND8:NM_001281783:exon19:c.T3189C:p.T1063T,ZMYND8:NM_001281781:exon18:c.T2835C:p.T945T,ZMYND8:NM_001281784:exon18:c.T2973C:p.T991T,ZMYND8:NM_001363741:exon20:c.T3129C:p.T1043T,ZMYND8:NM_001281777:exon19:c.T2976C:p.T992T,ZMYND8:NM_001281782:exon18:c.T2895C:p.T965T,ZMYND8:NM_012408:exon19:c.T3051C:p.T1017T,ZMYND8:NM_001281780:exon20:c.T2247C:p.T749T,ZMYND8:NM_183047:exon19:c.T3051C:p.T1017T, chr20 45853037 45853037 A G het . 37 +line44745 nonframeshift deletion ZMYND8:NM_001281778:exon15:c.2523_2525del:p.841_842del,ZMYND8:NM_001281773:exon16:c.2538_2540del:p.846_847del,ZMYND8:NM_001363714:exon15:c.2619_2621del:p.873_874del,ZMYND8:NM_001281775:exon15:c.2598_2600del:p.866_867del,ZMYND8:NM_001281772:exon17:c.2538_2540del:p.846_847del,ZMYND8:NM_001281783:exon15:c.2598_2600del:p.866_867del,ZMYND8:NM_001281784:exon14:c.2382_2384del:p.794_795del,ZMYND8:NM_001363741:exon16:c.2538_2540del:p.846_847del, chr20 45867567 45867569 TGC - het . 21 +line44764 nonsynonymous SNV NCOA3:NM_001174087:exon12:c.C2009A:p.T670K,NCOA3:NM_006534:exon12:c.C2009A:p.T670K,NCOA3:NM_181659:exon12:c.C2009A:p.T670K,NCOA3:NM_001174088:exon12:c.C2039A:p.T680K, chr20 46265139 46265139 C A het . 26 +line44809 nonsynonymous SNV PREX1:NM_020820:exon32:c.A4018G:p.K1340E, chr20 47253150 47253150 T C het . 26 +line44843 nonframeshift deletion DDX27:NM_001348187:exon5:c.582_584del:p.194_195del,DDX27:NM_017895:exon5:c.582_584del:p.194_195del, chr20 47841504 47841506 GAA - het . 24 +line44848 synonymous SNV DDX27:NM_001348187:exon12:c.C1395T:p.F465F,DDX27:NM_017895:exon11:c.C1302T:p.F434F, chr20 47850182 47850182 C T het . 24 +line44854 nonsynonymous SNV DDX27:NM_001348187:exon20:c.G2389A:p.G797S,DDX27:NM_017895:exon19:c.G2296A:p.G766S, chr20 47859217 47859217 G A het . 24 +line44857 synonymous SNV ZNFX1:NM_021035:exon14:c.C4189T:p.L1397L, chr20 47865372 47865372 G A het . 8 +line44858 nonsynonymous SNV ZNFX1:NM_021035:exon14:c.C4052T:p.T1351I, chr20 47865509 47865509 G A het . 17 +line44859 nonsynonymous SNV ZNFX1:NM_021035:exon14:c.G3517T:p.A1173S, chr20 47866044 47866044 C A het . 14 +line44861 nonsynonymous SNV ZNFX1:NM_021035:exon9:c.G2772C:p.Q924H, chr20 47872377 47872377 C G het . 12 +line44864 synonymous SNV ZNFX1:NM_021035:exon3:c.C1665T:p.Y555Y, chr20 47886684 47886684 G A het . 15 +line44873 synonymous SNV PTGIS:NM_000961:exon5:c.G534T:p.L178L, chr20 48156246 48156246 C A het . 23 +line44877 synonymous SNV B4GALT5:NM_004776:exon6:c.G660A:p.E220E, chr20 48257149 48257149 C T het . 17 +line44878 synonymous SNV B4GALT5:NM_004776:exon5:c.T577C:p.L193L, chr20 48259034 48259034 A G het . 18 +line44889 synonymous SNV SLC9A8:NM_001260491:exon11:c.T1023G:p.L341L,SLC9A8:NM_015266:exon11:c.T975G:p.L325L, chr20 48491258 48491258 T G het . 10 +line44893 synonymous SNV SPATA2:NM_006038:exon3:c.C1389T:p.C463C,SPATA2:NM_001135773:exon3:c.C1389T:p.C463C, chr20 48522330 48522330 G A het . 18 +line44894 synonymous SNV SPATA2:NM_006038:exon3:c.C1134T:p.S378S,SPATA2:NM_001135773:exon3:c.C1134T:p.S378S, chr20 48522585 48522585 G A het . 4 +line44895 synonymous SNV SPATA2:NM_006038:exon2:c.T201C:p.Y67Y,SPATA2:NM_001135773:exon2:c.T201C:p.Y67Y, chr20 48524827 48524827 A G het . 14 +line44918 synonymous SNV TMEM189-UBE2V1:NM_199203:exon4:c.G372A:p.P124P,TMEM189:NM_199129:exon4:c.G372A:p.P124P,TMEM189:NM_001162505:exon4:c.G363A:p.P121P, chr20 48746189 48746189 C T het . 19 +line44920 nonsynonymous SNV TMEM189-UBE2V1:NM_199203:exon1:c.A16G:p.N6D,TMEM189:NM_199129:exon1:c.A16G:p.N6D,TMEM189:NM_001162505:exon1:c.A16G:p.N6D, chr20 48770159 48770159 T C het . 4 +line44923 synonymous SNV CEBPB:NM_001285878:exon1:c.C372T:p.A124A,CEBPB:NM_005194:exon1:c.C441T:p.A147A, chr20 48808011 48808011 C T het . 7 +line44927 nonsynonymous SNV SMIM25:NM_001278655:exon4:c.C232T:p.L78F, chr20 48894756 48894756 C T het . 19 +line44940 nonsynonymous SNV RIPOR3:NM_080829:exon14:c.T1739C:p.L580P,RIPOR3:NM_001290268:exon14:c.T1751C:p.L584P, chr20 49214156 49214156 A G het . 19 +line44955 nonsynonymous SNV BCAS4:NM_001010974:exon1:c.G168T:p.E56D,BCAS4:NM_017843:exon1:c.G168T:p.E56D,BCAS4:NM_198799:exon1:c.G168T:p.E56D, chr20 49411698 49411698 G T het . 8 +line44960 synonymous SNV ADNP:NM_001347511:exon5:c.C2067T:p.G689G,ADNP:NM_001282531:exon6:c.C2067T:p.G689G,ADNP:NM_001282532:exon4:c.C2067T:p.G689G,ADNP:NM_015339:exon5:c.C2067T:p.G689G,ADNP:NM_181442:exon4:c.C2067T:p.G689G, chr20 49509184 49509184 G A het . 12 +line44978 synonymous SNV KCNG1:NM_002237:exon3:c.C1335A:p.I445I, chr20 49620783 49620783 G T het . 8 +line44979 synonymous SNV KCNG1:NM_002237:exon3:c.A969G:p.A323A, chr20 49621149 49621149 T C het . 10 +line44998 synonymous SNV NFATC2:NM_001258294:exon4:c.A846C:p.I282I,NFATC2:NM_001258297:exon4:c.A846C:p.I282I,NFATC2:NM_173091:exon4:c.A1503C:p.I501I,NFATC2:NM_012340:exon4:c.A1503C:p.I501I,NFATC2:NM_001136021:exon4:c.A1443C:p.I481I,NFATC2:NM_001258296:exon4:c.A846C:p.I282I,NFATC2:NM_001258295:exon4:c.A846C:p.I282I,NFATC2:NM_001258292:exon4:c.A1443C:p.I481I, chr20 50092027 50092027 T G het . 21 +line45012 synonymous SNV ATP9A:NM_006045:exon20:c.C2121T:p.T707T, chr20 50235577 50235577 G A het . 10 +line45018 synonymous SNV ATP9A:NM_006045:exon12:c.T1044C:p.R348R, chr20 50287790 50287790 A G het . 10 +line45041 synonymous SNV SALL4:NM_020436:exon2:c.C2037T:p.T679T, chr20 50406985 50406985 G A het . 35 +line45042 synonymous SNV SALL4:NM_020436:exon2:c.G1056A:p.A352A,SALL4:NM_001318031:exon2:c.G1056A:p.A352A, chr20 50407966 50407966 C T het . 14 +line45043 synonymous SNV SALL4:NM_020436:exon2:c.T540C:p.N180N,SALL4:NM_001318031:exon2:c.T540C:p.N180N, chr20 50408482 50408482 A G het . 16 +line45075 nonsynonymous SNV ZFP64:NM_022088:exon5:c.G1190A:p.S397N,ZFP64:NM_018197:exon6:c.G1352A:p.S451N,ZFP64:NM_199426:exon6:c.G1346A:p.S449N, chr20 50769379 50769379 C T het . 11 +line45076 synonymous SNV ZFP64:NM_022088:exon5:c.T1020C:p.H340H,ZFP64:NM_018197:exon6:c.T1182C:p.H394H,ZFP64:NM_199426:exon6:c.T1176C:p.H392H, chr20 50769549 50769549 A G het . 12 +line45118 synonymous SNV TSHZ2:NM_173485:exon2:c.T852C:p.F284F,TSHZ2:NM_001193421:exon2:c.T843C:p.F281F, chr20 51870849 51870849 T C het . 26 +line45153 nonsynonymous SNV BCAS1:NM_003657:exon10:c.A1416C:p.Q472H, chr20 52573971 52573971 T G het . 24 +line45169 synonymous SNV CYP24A1:NM_001128915:exon8:c.G1125A:p.P375P,CYP24A1:NM_000782:exon8:c.G1125A:p.P375P, chr20 52775528 52775528 C T het . 29 +line45175 synonymous SNV CYP24A1:NM_001128915:exon4:c.C552T:p.A184A,CYP24A1:NM_000782:exon4:c.C552T:p.A184A, chr20 52786219 52786219 G A het . 33 +line45269 nonsynonymous SNV AURKA:NM_001323304:exon4:c.A169G:p.I57V,AURKA:NM_003600:exon3:c.A169G:p.I57V,AURKA:NM_001323305:exon5:c.A169G:p.I57V,AURKA:NM_198437:exon3:c.A169G:p.I57V,AURKA:NM_198434:exon4:c.A169G:p.I57V,AURKA:NM_198435:exon3:c.A169G:p.I57V,AURKA:NM_001323303:exon4:c.A169G:p.I57V,AURKA:NM_198433:exon5:c.A169G:p.I57V,AURKA:NM_198436:exon4:c.A169G:p.I57V, chr20 54961463 54961463 T C het . 33 +line45270 nonsynonymous SNV AURKA:NM_001323304:exon4:c.T91A:p.F31I,AURKA:NM_003600:exon3:c.T91A:p.F31I,AURKA:NM_001323305:exon5:c.T91A:p.F31I,AURKA:NM_198437:exon3:c.T91A:p.F31I,AURKA:NM_198434:exon4:c.T91A:p.F31I,AURKA:NM_198435:exon3:c.T91A:p.F31I,AURKA:NM_001323303:exon4:c.T91A:p.F31I,AURKA:NM_198433:exon5:c.T91A:p.F31I,AURKA:NM_198436:exon4:c.T91A:p.F31I, chr20 54961541 54961541 A T het . 34 +line45274 synonymous SNV CASS4:NM_001164116:exon6:c.G1935A:p.R645R,CASS4:NM_020356:exon5:c.G1935A:p.R645R,CASS4:NM_001164114:exon5:c.G1773A:p.R591R, chr20 55028167 55028167 G A het . 11 +line45276 synonymous SNV CASS4:NM_001164115:exon5:c.C723G:p.L241L,CASS4:NM_001164116:exon7:c.C2034G:p.L678L,CASS4:NM_020356:exon6:c.C2034G:p.L678L,CASS4:NM_001164114:exon6:c.C1872G:p.L624L, chr20 55033476 55033476 C G het . 17 +line45277 synonymous SNV CASS4:NM_001164115:exon5:c.C882T:p.N294N,CASS4:NM_001164116:exon7:c.C2193T:p.N731N,CASS4:NM_020356:exon6:c.C2193T:p.N731N,CASS4:NM_001164114:exon6:c.C2031T:p.N677N, chr20 55033635 55033635 C T het . 10 +line45278 synonymous SNV CASS4:NM_001164115:exon5:c.T894C:p.R298R,CASS4:NM_001164116:exon7:c.T2205C:p.R735R,CASS4:NM_020356:exon6:c.T2205C:p.R735R,CASS4:NM_001164114:exon6:c.T2043C:p.R681R, chr20 55033647 55033647 T C het . 12 +line45279 synonymous SNV CASS4:NM_001164115:exon5:c.G960A:p.T320T,CASS4:NM_001164116:exon7:c.G2271A:p.T757T,CASS4:NM_020356:exon6:c.G2271A:p.T757T,CASS4:NM_001164114:exon6:c.G2109A:p.T703T, chr20 55033713 55033713 G A het . 15 +line45289 unknown UNKNOWN chr20 55070268 55070268 A T het . 16 +line45291 unknown UNKNOWN chr20 55072472 55072472 A G het . 34 +line45293 nonsynonymous SNV RTF2:NM_001283035:exon7:c.A601G:p.M201V,RTF2:NM_001283036:exon6:c.A511G:p.M171V,RTF2:NM_001283037:exon6:c.A511G:p.M171V,RTF2:NM_016407:exon6:c.A511G:p.M171V, chr20 55088404 55088404 A G het . 18 +line45294 nonsynonymous SNV FAM209B:NM_001013646:exon1:c.C220A:p.Q74K, chr20 55108617 55108617 C A het . 12 +line45295 synonymous SNV FAM209B:NM_001013646:exon2:c.G393A:p.Q131Q, chr20 55111371 55111371 G A het . 17 +line45299 synonymous SNV TFAP2C:NM_003222:exon5:c.T855C:p.I285I, chr20 55209257 55209257 T C het . 18 +line45332 synonymous SNV RAE1:NM_003610:exon4:c.C288T:p.D96D,RAE1:NM_001015885:exon4:c.C288T:p.D96D, chr20 55931594 55931594 C T het . 11 +line45344 synonymous SNV CTCFL:NM_001269043:exon12:c.G2010A:p.R670R, chr20 56071399 56071399 C T het . 12 +line45347 nonsynonymous SNV CTCFL:NM_080618:exon3:c.G148C:p.E50Q,CTCFL:NM_001269042:exon2:c.G148C:p.E50Q,CTCFL:NM_001269048:exon1:c.G148C:p.E50Q,CTCFL:NM_001269052:exon1:c.G148C:p.E50Q,CTCFL:NM_001269046:exon2:c.G148C:p.E50Q,CTCFL:NM_001269047:exon2:c.G148C:p.E50Q,CTCFL:NM_001269051:exon2:c.G148C:p.E50Q,CTCFL:NM_001269041:exon1:c.G148C:p.E50Q,CTCFL:NM_001269044:exon1:c.G148C:p.E50Q,CTCFL:NM_001269043:exon2:c.G148C:p.E50Q,CTCFL:NM_001269040:exon2:c.G148C:p.E50Q,CTCFL:NM_001269045:exon2:c.G148C:p.E50Q, chr20 56099114 56099114 C G het . 13 +line45349 synonymous SNV PCK1:NM_002591:exon2:c.A69G:p.L23L, chr20 56136536 56136536 A G het . 8 +line45350 synonymous SNV PCK1:NM_002591:exon4:c.G453A:p.S151S, chr20 56137798 56137798 G A het . 17 +line45351 synonymous SNV PCK1:NM_002591:exon4:c.A462G:p.S154S, chr20 56137807 56137807 A G het . 19 +line45352 synonymous SNV PCK1:NM_002591:exon4:c.A489G:p.S163S, chr20 56137834 56137834 A G het . 16 +line45353 nonsynonymous SNV PCK1:NM_002591:exon4:c.G550C:p.V184L, chr20 56137895 56137895 G C het . 14 +line45355 synonymous SNV PCK1:NM_002591:exon7:c.T1140C:p.G380G, chr20 56139403 56139403 T C het . 32 +line45361 nonsynonymous SNV ZBP1:NM_001160418:exon5:c.A548G:p.Q183R,ZBP1:NM_030776:exon6:c.A773G:p.Q258R,ZBP1:NM_001160417:exon6:c.A770G:p.Q257R, chr20 56186884 56186884 T C het . 8 +line45362 nonsynonymous SNV ZBP1:NM_001160419:exon3:c.G262A:p.E88K,ZBP1:NM_001323966:exon2:c.G37A:p.E13K,ZBP1:NM_001160418:exon2:c.G37A:p.E13K,ZBP1:NM_030776:exon3:c.G262A:p.E88K,ZBP1:NM_001160417:exon3:c.G262A:p.E88K, chr20 56190634 56190634 C T het . 4 +line45363 synonymous SNV PMEPA1:NM_001255976:exon4:c.A357G:p.P119P,PMEPA1:NM_199169:exon4:c.A336G:p.P112P,PMEPA1:NM_020182:exon4:c.A441G:p.P147P,PMEPA1:NM_199170:exon4:c.A291G:p.P97P,PMEPA1:NM_199171:exon4:c.A291G:p.P97P, chr20 56227532 56227532 T C het . 6 +line45388 nonsynonymous SNV ANKRD60:NM_001304369:exon4:c.C883T:p.R295C, chr20 56793706 56793706 G A het . 9 +line45389 synonymous SNV ANKRD60:NM_001304369:exon4:c.C825T:p.H275H, chr20 56793764 56793764 G A het . 4 +line45390 synonymous SNV ANKRD60:NM_001304369:exon1:c.G357A:p.R119R, chr20 56803353 56803353 C T het . 22 +line45391 nonsynonymous SNV ANKRD60:NM_001304369:exon1:c.G209A:p.R70H, chr20 56803501 56803501 C T het . 14 +line45433 nonsynonymous SNV GNAS:NM_001309883:exon1:c.C650A:p.A217E,GNAS:NM_001077490:exon1:c.C650A:p.A217E, chr20 57429157 57429157 C A het . 34 +line45448 synonymous SNV CTSZ:NM_001336:exon5:c.T732C:p.S244S, chr20 57571763 57571763 A G het . 13 +line45449 synonymous SNV CTSZ:NM_001336:exon4:c.T621C:p.Y207Y, chr20 57572675 57572675 A G het . 6 +line45450 synonymous SNV TUBB1:NM_030773:exon4:c.T534G:p.T178T, chr20 57599016 57599016 T G het . 17 +line45452 nonsynonymous SNV PRELID3B:NM_016045:exon6:c.G466T:p.G156C,PRELID3B:NM_001256403:exon5:c.G376T:p.G126C, chr20 57610181 57610181 C A het . 19 +line45458 synonymous SNV ZNF831:NM_178457:exon1:c.G969C:p.A323A, chr20 57767043 57767043 G C het . 9 +line45459 synonymous SNV ZNF831:NM_178457:exon1:c.T1653A:p.T551T, chr20 57767727 57767727 T A het . 5 +line45460 synonymous SNV ZNF831:NM_178457:exon1:c.T2325C:p.A775A, chr20 57768399 57768399 T C het . 4 +line45461 nonsynonymous SNV ZNF831:NM_178457:exon1:c.C2669T:p.A890V, chr20 57768743 57768743 C T het . 10 +line45465 nonsynonymous SNV ZNF831:NM_178457:exon5:c.T4537C:p.S1513P, chr20 57829301 57829301 T C het . 28 +line45485 synonymous SNV SYCP2:NM_014258:exon33:c.G3024A:p.P1008P, chr20 58452566 58452566 C T het . 28 +line45487 nonsynonymous SNV SYCP2:NM_014258:exon31:c.T2852C:p.I951T, chr20 58455447 58455447 A G het . 19 +line45490 synonymous SNV SYCP2:NM_014258:exon18:c.C1290T:p.V430V, chr20 58475307 58475307 G A het . 23 +line45491 synonymous SNV SYCP2:NM_014258:exon16:c.C1125T:p.D375D, chr20 58476774 58476774 G A het . 12 +line45496 nonsynonymous SNV FAM217B:NM_001190826:exon5:c.C476A:p.A159D,FAM217B:NM_022106:exon4:c.C476A:p.A159D,FAM217B:NM_001190827:exon4:c.C5A:p.A2D, chr20 58519474 58519474 C A het . 15 +line45502 nonsynonymous SNV CDH26:NM_177980:exon15:c.A2132G:p.Q711R,CDH26:NM_021810:exon3:c.A131G:p.Q44R, chr20 58576432 58576432 A G het . 14 +line45567 synonymous SNV CDH4:NM_001252339:exon4:c.C381T:p.I127I,CDH4:NM_001252338:exon4:c.C492T:p.I164I,CDH4:NM_001794:exon5:c.C603T:p.I201I, chr20 60419750 60419750 C T het . 6 +line45571 synonymous SNV CDH4:NM_001252339:exon8:c.C1116T:p.D372D,CDH4:NM_001252338:exon8:c.C1227T:p.D409D,CDH4:NM_001794:exon9:c.C1338T:p.D446D, chr20 60485627 60485627 C T het . 15 +line45576 synonymous SNV TAF4:NM_003185:exon14:c.G3033T:p.A1011A, chr20 60572663 60572663 C A het . 13 +line45596 synonymous SNV PSMA7:NM_002792:exon5:c.C507T:p.R169R, chr20 60713311 60713311 G A het . 7 +line45597 synonymous SNV PSMA7:NM_002792:exon5:c.T486C:p.G162G, chr20 60713332 60713332 A G het . 6 +line45611 synonymous SNV ADRM1:NM_007002:exon4:c.G408A:p.A136A,ADRM1:NM_175573:exon4:c.G408A:p.A136A,ADRM1:NM_001281438:exon3:c.G291A:p.A97A,ADRM1:NM_001281437:exon3:c.G291A:p.A97A, chr20 60881330 60881330 G A het . 21 +line45613 synonymous SNV ADRM1:NM_007002:exon5:c.T531C:p.L177L,ADRM1:NM_175573:exon5:c.T531C:p.L177L,ADRM1:NM_001281438:exon4:c.T414C:p.L138L,ADRM1:NM_001281437:exon4:c.T414C:p.L138L, chr20 60881780 60881780 T C het . 14 +line45617 synonymous SNV LAMA5:NM_005560:exon68:c.C9348T:p.T3116T, chr20 60887468 60887468 G A het . 19 +line45618 nonsynonymous SNV LAMA5:NM_005560:exon68:c.C9235T:p.R3079W, chr20 60887581 60887581 G A het . 13 +line45621 synonymous SNV LAMA5:NM_005560:exon55:c.T7386C:p.D2462D, chr20 60892526 60892526 A G het . 4 +line45624 nonsynonymous SNV LAMA5:NM_005560:exon47:c.G6184A:p.D2062N, chr20 60897487 60897487 C T het . 4 +line45626 nonsynonymous SNV LAMA5:NM_005560:exon43:c.G5698A:p.V1900M, chr20 60899206 60899206 C T het . 2 +line45627 nonsynonymous SNV LAMA5:NM_005560:exon41:c.T5420C:p.F1807S, chr20 60900481 60900481 A G het . 11 +line45628 synonymous SNV LAMA5:NM_005560:exon41:c.G5322T:p.T1774T, chr20 60900579 60900579 C A het . 3 +line45632 nonsynonymous SNV LAMA5:NM_005560:exon32:c.A4099G:p.K1367E, chr20 60904853 60904853 T C het . 6 +line45633 nonsynonymous SNV LAMA5:NM_005560:exon30:c.T3773C:p.M1258T, chr20 60905878 60905878 A G het . 4 +line45635 synonymous SNV LAMA5:NM_005560:exon28:c.A3534G:p.E1178E, chr20 60907446 60907446 T C het . 6 +line45636 synonymous SNV LAMA5:NM_005560:exon27:c.C3381T:p.A1127A, chr20 60907675 60907675 G A het . 4 +line45637 synonymous SNV LAMA5:NM_005560:exon23:c.C2871T:p.C957C, chr20 60908964 60908964 G A het . 4 +line45638 nonsynonymous SNV LAMA5:NM_005560:exon23:c.A2866G:p.T956A, chr20 60908969 60908969 T C het . 6 +line45639 synonymous SNV LAMA5:NM_005560:exon23:c.T2775C:p.P925P, chr20 60909060 60909060 A G het . 14 +line45642 synonymous SNV LAMA5:NM_005560:exon16:c.A2127G:p.T709T, chr20 60912683 60912683 T C het . 6 +line45647 synonymous SNV LAMA5:NM_005560:exon11:c.C1464T:p.A488A, chr20 60920887 60920887 G A het . 9 +line45649 nonsynonymous SNV LAMA5:NM_005560:exon9:c.A1201G:p.T401A, chr20 60921643 60921643 T C het . 8 +line45653 synonymous SNV LAMA5:NM_005560:exon4:c.G636A:p.A212A, chr20 60927349 60927349 C T het . 12 +line45654 synonymous SNV LAMA5:NM_005560:exon4:c.C573T:p.S191S, chr20 60927412 60927412 G A het . 6 +line45656 synonymous SNV LAMA5:NM_005560:exon2:c.T309C:p.C103C, chr20 60937597 60937597 A G het . 3 +line45658 nonsynonymous SNV CABLES2:NM_031215:exon9:c.C1283A:p.T428K, chr20 60966318 60966318 G T het . 6 +line45659 nonsynonymous SNV RBBP8NL:NM_080833:exon11:c.A1598C:p.D533A, chr20 60988534 60988534 T G het . 3 +line45660 nonsynonymous SNV RBBP8NL:NM_080833:exon10:c.C1220A:p.A407D, chr20 60989187 60989187 G T het . 8 +line45664 synonymous SNV GATA5:NM_080473:exon7:c.A1128G:p.P376P, chr20 61039958 61039958 T C het . 3 +line45667 synonymous SNV GATA5:NM_080473:exon3:c.C609T:p.D203D, chr20 61048549 61048549 G A het . 16 +line45672 nonsynonymous SNV MIR1-1HG:NM_001302812:exon4:c.T80C:p.V27A,MIR1-1HG:NM_178463:exon3:c.T80C:p.V27A, chr20 61162267 61162267 T C het . 7 +line45674 synonymous SNV MIR1-1HG:NM_001302812:exon5:c.G353A:p.X118X,MIR1-1HG:NM_178463:exon4:c.G353A:p.X118X, chr20 61167883 61167883 G A het . 4 +line45690 synonymous SNV OGFR:NM_007346:exon7:c.G720A:p.T240T, chr20 61443687 61443687 G A het . 11 +line45691 synonymous SNV COL9A3:NM_001853:exon2:c.C129T:p.P43P, chr20 61448969 61448969 C T het . 8 +line45699 synonymous SNV COL9A3:NM_001853:exon30:c.T1740C:p.P580P, chr20 61468571 61468571 T C het . 17 +line45707 synonymous SNV TCFL5:NM_006602:exon4:c.A1200G:p.Q400Q,TCFL5:NM_001301726:exon4:c.A1197G:p.Q399Q, chr20 61488785 61488785 T C het . 4 +line45713 nonsynonymous SNV DIDO1:NM_033081:exon16:c.A4702G:p.T1568A,DIDO1:NM_001193369:exon16:c.A4702G:p.T1568A, chr20 61512606 61512606 T C het . 6 +line45717 synonymous SNV SLC17A9:NM_022082:exon2:c.A102G:p.T34T,SLC17A9:NM_001302643:exon3:c.A84G:p.T28T, chr20 61588159 61588159 A G het . 13 +line45719 nonsynonymous SNV SLC17A9:NM_022082:exon6:c.A683G:p.N228S,SLC17A9:NM_001302643:exon7:c.A665G:p.N222S, chr20 61594679 61594679 A G het . 13 +line45734 synonymous SNV YTHDF1:NM_017798:exon4:c.C597T:p.A199A, chr20 61834695 61834695 G A het . 7 +line45740 synonymous SNV BIRC7:NM_022161:exon3:c.C528T:p.S176S,BIRC7:NM_139317:exon3:c.C528T:p.S176S, chr20 61869826 61869826 C T het . 8 +line45741 nonsynonymous SNV BIRC7:NM_139317:exon6:c.G667C:p.E223Q, chr20 61870727 61870727 G C het . 9 +line45746 nonsynonymous SNV NKAIN4:NM_001363747:exon4:c.C206A:p.A69D,NKAIN4:NM_001363718:exon4:c.C206A:p.A69D,NKAIN4:NM_152864:exon4:c.C392A:p.A131D, chr20 61879009 61879009 G T het . 5 +line45749 synonymous SNV NKAIN4:NM_152864:exon2:c.T183C:p.Y61Y, chr20 61881296 61881296 A G het . 7 +line45759 synonymous SNV COL20A1:NM_020882:exon11:c.A1278G:p.G426G, chr20 61941747 61941747 A G het . 8 +line45761 synonymous SNV COL20A1:NM_020882:exon24:c.G3015C:p.A1005A, chr20 61951489 61951489 G C het . 2 +line45767 synonymous SNV CHRNA4:NM_001256573:exon5:c.G1131A:p.A377A,CHRNA4:NM_000744:exon5:c.G1659A:p.A553A, chr20 61981104 61981104 C T het . 10 +line45768 synonymous SNV CHRNA4:NM_001256573:exon5:c.C1101T:p.S367S,CHRNA4:NM_000744:exon5:c.C1629T:p.S543S, chr20 61981134 61981134 G A het . 8 +line45769 synonymous SNV CHRNA4:NM_001256573:exon5:c.T699C:p.C233C,CHRNA4:NM_000744:exon5:c.T1227C:p.C409C, chr20 61981536 61981536 A G het . 2 +line45770 synonymous SNV CHRNA4:NM_001256573:exon5:c.G681T:p.P227P,CHRNA4:NM_000744:exon5:c.G1209T:p.P403P, chr20 61981554 61981554 C A het . 6 +line45771 synonymous SNV CHRNA4:NM_001256573:exon5:c.T150C:p.C50C,CHRNA4:NM_000744:exon5:c.T678C:p.C226C, chr20 61982085 61982085 A G het . 29 +line45772 synonymous SNV CHRNA4:NM_001256573:exon5:c.T111C:p.D37D,CHRNA4:NM_000744:exon5:c.T639C:p.D213D, chr20 61982124 61982124 A G het . 36 +line45774 synonymous SNV CHRNA4:NM_000744:exon1:c.G51A:p.L17L, chr20 61992467 61992467 C T het . 10 +line45777 nonsynonymous SNV KCNQ2:NM_172106:exon16:c.A2285C:p.N762T,KCNQ2:NM_172108:exon16:c.A2246C:p.N749T,KCNQ2:NM_172107:exon17:c.A2339C:p.N780T,KCNQ2:NM_004518:exon15:c.A2255C:p.N752T, chr20 62038277 62038277 T G het . 14 +line45780 nonsynonymous SNV KCNQ2:NM_172106:exon4:c.G643A:p.G215R,KCNQ2:NM_172108:exon4:c.G643A:p.G215R,KCNQ2:NM_172109:exon4:c.G643A:p.G215R,KCNQ2:NM_172107:exon4:c.G643A:p.G215R,KCNQ2:NM_004518:exon4:c.G643A:p.G215R, chr20 62076059 62076059 C T het . 9 +line45784 synonymous SNV EEF1A2:NM_001958:exon4:c.T594C:p.G198G, chr20 62126185 62126185 A G het . 15 +line45785 synonymous SNV EEF1A2:NM_001958:exon4:c.G480A:p.P160P, chr20 62126299 62126299 C T het . 19 +line45789 synonymous SNV SRMS:NM_080823:exon8:c.C1419T:p.F473F, chr20 62172219 62172219 G A het . 8 +line45791 synonymous SNV SRMS:NM_080823:exon5:c.C900A:p.I300I, chr20 62173562 62173562 G T het . 4 +line45792 synonymous SNV SRMS:NM_080823:exon3:c.C588T:p.Y196Y, chr20 62174724 62174724 G A het . 13 +line45793 synonymous SNV FNDC11:NM_024059:exon2:c.T171C:p.S57S,FNDC11:NM_001319152:exon2:c.T171C:p.S57S,FNDC11:NM_001319153:exon2:c.T171C:p.S57S, chr20 62187187 62187187 T C het . 11 +line45794 synonymous SNV FNDC11:NM_024059:exon2:c.T423C:p.D141D,FNDC11:NM_001319152:exon2:c.T423C:p.D141D,FNDC11:NM_001319153:exon2:c.T423C:p.D141D, chr20 62187439 62187439 T C het . 9 +line45795 synonymous SNV HELZ2:NM_001037335:exon19:c.T7785C:p.N2595N,HELZ2:NM_033405:exon13:c.T6078C:p.N2026N, chr20 62191321 62191321 A G het . 19 +line45798 nonsynonymous SNV HELZ2:NM_001037335:exon9:c.C6145G:p.Q2049E,HELZ2:NM_033405:exon3:c.C4438G:p.Q1480E, chr20 62194030 62194030 G C het . 14 +line45799 synonymous SNV HELZ2:NM_001037335:exon9:c.T6072C:p.P2024P,HELZ2:NM_033405:exon3:c.T4365C:p.P1455P, chr20 62194103 62194103 A G het . 15 +line45800 nonsynonymous SNV HELZ2:NM_001037335:exon9:c.T5462G:p.L1821R,HELZ2:NM_033405:exon3:c.T3755G:p.L1252R, chr20 62194713 62194713 A C het . 17 +line45801 synonymous SNV HELZ2:NM_001037335:exon9:c.T5088C:p.S1696S,HELZ2:NM_033405:exon3:c.T3381C:p.S1127S, chr20 62195087 62195087 A G het . 17 +line45802 nonsynonymous SNV HELZ2:NM_001037335:exon9:c.G4955A:p.R1652Q,HELZ2:NM_033405:exon3:c.G3248A:p.R1083Q, chr20 62195220 62195220 C T het . 15 +line45803 synonymous SNV HELZ2:NM_001037335:exon9:c.G4503A:p.L1501L,HELZ2:NM_033405:exon3:c.G2796A:p.L932L, chr20 62195672 62195672 C T het . 15 +line45804 nonsynonymous SNV HELZ2:NM_001037335:exon9:c.G4142A:p.R1381K,HELZ2:NM_033405:exon3:c.G2435A:p.R812K, chr20 62196033 62196033 C T het . 13 +line45805 synonymous SNV HELZ2:NM_001037335:exon9:c.C3993G:p.A1331A,HELZ2:NM_033405:exon3:c.C2286G:p.A762A, chr20 62196182 62196182 G C het . 7 +line45806 nonsynonymous SNV HELZ2:NM_001037335:exon9:c.G3922T:p.V1308L,HELZ2:NM_033405:exon3:c.G2215T:p.V739L, chr20 62196253 62196253 C A het . 15 +line45807 nonsynonymous SNV HELZ2:NM_001037335:exon9:c.A3368G:p.H1123R,HELZ2:NM_033405:exon3:c.A1661G:p.H554R, chr20 62196807 62196807 T C het . 23 +line45808 synonymous SNV HELZ2:NM_001037335:exon9:c.T3291C:p.T1097T,HELZ2:NM_033405:exon3:c.T1584C:p.T528T, chr20 62196884 62196884 A G het . 20 +line45809 synonymous SNV HELZ2:NM_001037335:exon7:c.C2475T:p.R825R,HELZ2:NM_033405:exon1:c.C768T:p.R256R, chr20 62198236 62198236 G A het . 9 +line45810 nonsynonymous SNV HELZ2:NM_001037335:exon7:c.G2363A:p.S788N,HELZ2:NM_033405:exon1:c.G656A:p.S219N, chr20 62198348 62198348 C T het . 13 +line45811 synonymous SNV HELZ2:NM_001037335:exon7:c.T2049C:p.Y683Y,HELZ2:NM_033405:exon1:c.T342C:p.Y114Y, chr20 62198662 62198662 A G het . 15 +line45812 synonymous SNV HELZ2:NM_001037335:exon5:c.A1014G:p.S338S, chr20 62200575 62200575 T C het . 3 +line45813 synonymous SNV HELZ2:NM_001037335:exon5:c.T729C:p.A243A, chr20 62200860 62200860 A G het . 13 +line45815 synonymous SNV GMEB2:NM_012384:exon10:c.A1425G:p.L475L, chr20 62221610 62221610 T C het . 4 +line45818 synonymous SNV GMEB2:NM_012384:exon6:c.T501C:p.H167H, chr20 62227081 62227081 A G het . 10 +line45821 synonymous SNV GMEB2:NM_012384:exon3:c.A177G:p.A59A, chr20 62236148 62236148 T C het . 20 +line45841 synonymous SNV RTEL1:NM_001283009:exon23:c.T1992C:p.D664D,RTEL1:NM_032957:exon23:c.T2064C:p.D688D,RTEL1:NM_001283010:exon22:c.T1323C:p.D441D,RTEL1:NM_016434:exon23:c.T1992C:p.D664D, chr20 62320968 62320968 T C het . 9 +line45842 synonymous SNV RTEL1:NM_001283009:exon24:c.C2112T:p.D704D,RTEL1:NM_032957:exon24:c.C2184T:p.D728D,RTEL1:NM_001283010:exon23:c.C1443T:p.D481D,RTEL1:NM_016434:exon24:c.C2112T:p.D704D, chr20 62321189 62321189 C T het . 8 +line45843 synonymous SNV RTEL1:NM_001283009:exon27:c.T2544C:p.P848P,RTEL1:NM_032957:exon27:c.T2616C:p.P872P,RTEL1:NM_001283010:exon26:c.T1875C:p.P625P,RTEL1:NM_016434:exon27:c.T2544C:p.P848P, chr20 62322288 62322288 T C het . 5 +line45844 nonsynonymous SNV RTEL1:NM_001283009:exon32:c.A3126C:p.Q1042H,RTEL1:NM_032957:exon32:c.A3198C:p.Q1066H,RTEL1:NM_001283010:exon31:c.A2457C:p.Q819H,RTEL1:NM_016434:exon32:c.A3126C:p.Q1042H, chr20 62326110 62326110 A C het . 4 +line45845 synonymous SNV TNFRSF6B:NM_003823:exon1:c.A255G:p.L85L, chr20 62328375 62328375 A G het . 16 +line45849 nonsynonymous SNV ZGPAT:NM_032527:exon2:c.C183G:p.S61R,ZGPAT:NM_001083113:exon2:c.C183G:p.S61R,ZGPAT:NM_001195654:exon2:c.C183G:p.S61R,ZGPAT:NM_181485:exon2:c.C183G:p.S61R,ZGPAT:NM_001195653:exon2:c.C183G:p.S61R, chr20 62340115 62340115 C G het . 4 +line45856 synonymous SNV SLC2A4RG:NM_020062:exon3:c.G372A:p.P124P, chr20 62372813 62372813 G A het . 5 +line45857 nonsynonymous SNV SLC2A4RG:NM_020062:exon6:c.G699T:p.E233D, chr20 62373707 62373707 G T het . 2 +line45859 synonymous SNV ZBTB46:NM_025224:exon5:c.G1704A:p.E568E, chr20 62378349 62378349 C T het . 13 +line45860 synonymous SNV ZBTB46:NM_025224:exon5:c.G1689A:p.A563A, chr20 62378364 62378364 C T het . 15 +line45874 synonymous SNV ZNF512B:NM_020713:exon9:c.T1578C:p.L526L, chr20 62595169 62595169 A G het . 18 +line45875 synonymous SNV ZNF512B:NM_020713:exon5:c.A834C:p.V278V, chr20 62597694 62597694 T G het . 24 +line45876 synonymous SNV ZNF512B:NM_020713:exon3:c.G183A:p.P61P, chr20 62598815 62598815 C T het . 7 +line45881 synonymous SNV PRPF6:NM_012469:exon10:c.G1239A:p.L413L, chr20 62641605 62641605 G A het . 35 +line45887 synonymous SNV LKAAEAR1:NM_001007125:exon2:c.G678C:p.A226A, chr20 62714783 62714783 C G het . 8 +line45888 nonsynonymous SNV LKAAEAR1:NM_001007125:exon1:c.G25T:p.G9W,LKAAEAR1:NM_001353425:exon1:c.G25T:p.G9W, chr20 62715548 62715548 C A het . 2 +line45889 nonsynonymous SNV OPRL1:NM_000913:exon4:c.G817A:p.V273M,OPRL1:NM_001200019:exon6:c.G817A:p.V273M,OPRL1:NM_182647:exon5:c.G817A:p.V273M,OPRL1:NM_001318854:exon3:c.G802A:p.V268M,OPRL1:NM_001318855:exon3:c.G730A:p.V244M, chr20 62729856 62729856 G A het . 25 +line45890 synonymous SNV NPBWR2:NM_005286:exon1:c.C867T:p.P289P, chr20 62737318 62737318 G A het . 13 +line45892 synonymous SNV MYT1:NM_004535:exon19:c.C2760T:p.A920A, chr20 62863601 62863601 C T het . 34 +line46303 synonymous SNV TPTE:NM_199259:exon21:c.G1362C:p.L454L,TPTE:NM_199260:exon20:c.G1302C:p.L434L,TPTE:NM_001290224:exon17:c.G1002C:p.L334L,TPTE:NM_199261:exon22:c.G1416C:p.L472L, chr21 10910340 10910340 C G het . 20 +line46304 nonsynonymous SNV TPTE:NM_199259:exon21:c.T1355C:p.L452P,TPTE:NM_199260:exon20:c.T1295C:p.L432P,TPTE:NM_001290224:exon17:c.T995C:p.L332P,TPTE:NM_199261:exon22:c.T1409C:p.L470P, chr21 10910347 10910347 A G het . 18 +line46309 nonsynonymous SNV TPTE:NM_199259:exon18:c.A1102G:p.K368E,TPTE:NM_199260:exon17:c.A1042G:p.K348E,TPTE:NM_001290224:exon14:c.A742G:p.K248E,TPTE:NM_199261:exon19:c.A1156G:p.K386E, chr21 10920098 10920098 T C het . 7 +line46314 nonframeshift deletion TPTE:NM_199259:exon11:c.606_608del:p.202_203del,TPTE:NM_199260:exon10:c.546_548del:p.182_183del,TPTE:NM_001290224:exon7:c.246_248del:p.82_83del,TPTE:NM_199261:exon12:c.660_662del:p.220_221del, chr21 10942925 10942927 CTT - het . 23 +line46585 nonsynonymous SNV LIPI:NM_001302999:exon9:c.C1242A:p.D414E,LIPI:NM_001303000:exon10:c.C1314A:p.D438E,LIPI:NM_198996:exon10:c.C1395A:p.D465E,LIPI:NM_001303001:exon8:c.C1043A:p.T348K,LIPI:NM_001302998:exon10:c.C1332A:p.D444E, chr21 15481365 15481365 G T het . 23 +line46587 nonsynonymous SNV LIPI:NM_001302999:exon8:c.G1201A:p.E401K,LIPI:NM_001303000:exon9:c.G1273A:p.E425K,LIPI:NM_198996:exon9:c.G1354A:p.E452K,LIPI:NM_001302998:exon9:c.G1291A:p.E431K, chr21 15516948 15516948 C T het . 38 +line46588 nonsynonymous SNV LIPI:NM_001302999:exon8:c.A1173T:p.R391S,LIPI:NM_001303000:exon9:c.A1245T:p.R415S,LIPI:NM_198996:exon9:c.A1326T:p.R442S,LIPI:NM_001302998:exon9:c.A1263T:p.R421S, chr21 15516976 15516976 T A het . 41 +line46596 synonymous SNV LIPI:NM_001302999:exon3:c.C477T:p.S159S,LIPI:NM_001303000:exon3:c.C477T:p.S159S,LIPI:NM_198996:exon3:c.C540T:p.S180S,LIPI:NM_001303001:exon3:c.C477T:p.S159S,LIPI:NM_001302998:exon3:c.C477T:p.S159S, chr21 15558346 15558346 G A het . 33 +line46603 nonsynonymous SNV RBM11:NM_001320602:exon4:c.T346G:p.L116V,RBM11:NM_144770:exon4:c.T346G:p.L116V, chr21 15596772 15596772 T G het . 14 +line46621 nonsynonymous SNV SAMSN1:NM_001256370:exon5:c.T563C:p.L188P,SAMSN1:NM_001286523:exon5:c.T152C:p.L51P,SAMSN1:NM_022136:exon4:c.T359C:p.L120P, chr21 15884815 15884815 A G het . 29 +line46626 synonymous SNV SAMSN1:NM_022136:exon1:c.C6G:p.L2L, chr21 15918577 15918577 G C het . 22 +line46636 nonsynonymous SNV SAMSN1:NM_001256370:exon2:c.C125T:p.P42L, chr21 15954593 15954593 G A het . 21 +line46637 nonsynonymous SNV SAMSN1:NM_001256370:exon2:c.A58G:p.N20D, chr21 15954660 15954660 T C het . 25 +line46641 nonsynonymous SNV LOC388813:NM_001256579:exon5:c.A250G:p.N84D, chr21 15974409 15974409 T C het . 18 +line46684 synonymous SNV USP25:NM_001283042:exon16:c.A1830T:p.A610A,USP25:NM_013396:exon16:c.A1830T:p.A610A,USP25:NM_001283041:exon16:c.A1830T:p.A610A,USP25:NM_001352560:exon16:c.A1167T:p.A389A,USP25:NM_001352561:exon16:c.A618T:p.A206A, chr21 17203785 17203785 A T het . 16 +line46800 nonsynonymous SNV C21orf91:NM_017447:exon3:c.C408G:p.D136E,C21orf91:NM_001100421:exon3:c.C408G:p.D136E,C21orf91:NM_001100420:exon3:c.C408G:p.D136E, chr21 19169155 19169155 G C het . 34 +line46827 nonsynonymous SNV TMPRSS15:NM_002772:exon19:c.C2194T:p.P732S, chr21 19670118 19670118 G A het . 36 +line46839 synonymous SNV TMPRSS15:NM_002772:exon13:c.G1473A:p.A491A, chr21 19713821 19713821 C T het . 23 +line46843 nonsynonymous SNV TMPRSS15:NM_002772:exon2:c.A230G:p.K77R, chr21 19770562 19770562 T C het . 31 +line47008 nonsynonymous SNV NCAM2:NM_001352595:exon6:c.T623C:p.L208P,NCAM2:NM_001352591:exon9:c.T1049C:p.L350P,NCAM2:NM_001352594:exon9:c.T1049C:p.L350P,NCAM2:NM_001352592:exon10:c.T1124C:p.L375P,NCAM2:NM_001352596:exon9:c.T1049C:p.L350P,NCAM2:NM_004540:exon9:c.T1049C:p.L350P,NCAM2:NM_001352593:exon9:c.T1049C:p.L350P,NCAM2:NM_001352597:exon10:c.T1124C:p.L375P, chr21 22746187 22746187 T C het . 4 +line47209 synonymous SNV MRPL39:NM_080794:exon8:c.C897T:p.G299G,MRPL39:NM_017446:exon8:c.C897T:p.G299G, chr21 26965148 26965148 G A het . 9 +line47210 synonymous SNV MRPL39:NM_080794:exon8:c.A840G:p.V280V,MRPL39:NM_017446:exon8:c.A840G:p.V280V, chr21 26965205 26965205 T C het . 15 +line47213 synonymous SNV MRPL39:NM_080794:exon6:c.A612G:p.K204K,MRPL39:NM_017446:exon6:c.A612G:p.K204K, chr21 26969703 26969703 T C het . 17 +line47220 nonsynonymous SNV MRPL39:NM_080794:exon2:c.T91C:p.S31P,MRPL39:NM_017446:exon2:c.T91C:p.S31P, chr21 26978950 26978950 A G het . 15 +line47241 nonsynonymous SNV APP:NM_001204302:exon13:c.G1738A:p.E580K,APP:NM_201414:exon12:c.G1570A:p.E524K,APP:NM_001136130:exon13:c.G1627A:p.E543K,APP:NM_001136131:exon12:c.G1465A:p.E489K,APP:NM_001204303:exon12:c.G1570A:p.E524K,APP:NM_001136016:exon13:c.G1723A:p.E575K,APP:NM_001204301:exon14:c.G1795A:p.E599K,APP:NM_201413:exon13:c.G1738A:p.E580K,APP:NM_000484:exon14:c.G1795A:p.E599K,APP:NM_001136129:exon11:c.G1402A:p.E468K, chr21 27284167 27284167 C T het . 41 +line47288 synonymous SNV CYYR1:NM_001320768:exon3:c.T525C:p.V175V,CYYR1:NM_052954:exon3:c.T201C:p.V67V, chr21 27852724 27852724 A G het . 13 +line47310 synonymous SNV ADAMTS1:NM_006988:exon5:c.C1500T:p.P500P, chr21 28212760 28212760 G A het . 17 +line47317 nonsynonymous SNV ADAMTS1:NM_006988:exon1:c.G679C:p.A227P, chr21 28216595 28216595 C G het . 7 +line47318 synonymous SNV ADAMTS1:NM_006988:exon1:c.C582A:p.V194V, chr21 28216692 28216692 G T het . 11 +line47319 synonymous SNV ADAMTS1:NM_006988:exon1:c.A96C:p.P32P, chr21 28217178 28217178 T G het . 10 +line47325 nonsynonymous SNV ADAMTS5:NM_007038:exon7:c.T2075C:p.L692P, chr21 28302355 28302355 A G het . 10 +line47326 nonsynonymous SNV ADAMTS5:NM_007038:exon5:c.G1841A:p.R614H, chr21 28305212 28305212 C T het . 4 +line47328 synonymous SNV ADAMTS5:NM_007038:exon1:c.G288C:p.R96R, chr21 28338423 28338423 C G het . 17 +line47329 nonsynonymous SNV ADAMTS5:NM_007038:exon1:c.C286T:p.R96W, chr21 28338425 28338425 G A het . 17 +line47422 nonsynonymous SNV N6AMT1:NM_013240:exon5:c.A497G:p.K166R,N6AMT1:NM_182749:exon4:c.A413G:p.K138R, chr21 30250555 30250555 T C het . 10 +line47423 nonsynonymous SNV N6AMT1:NM_013240:exon5:c.A437G:p.K146R,N6AMT1:NM_182749:exon4:c.A353G:p.K118R, chr21 30250615 30250615 T C het . 19 +line47426 synonymous SNV N6AMT1:NM_013240:exon1:c.G108C:p.L36L,N6AMT1:NM_182749:exon1:c.G108C:p.L36L, chr21 30257560 30257560 C G het . 9 +line47427 nonsynonymous SNV N6AMT1:NM_013240:exon1:c.A100G:p.N34D,N6AMT1:NM_182749:exon1:c.A100G:p.N34D, chr21 30257568 30257568 T C het . 12 +line47435 nonsynonymous SNV LTN1:NM_001320766:exon11:c.G2377A:p.V793I,LTN1:NM_015565:exon12:c.G2419A:p.V807I, chr21 30332911 30332911 C T het . 15 +line47437 nonsynonymous SNV LTN1:NM_001320766:exon10:c.G1831T:p.G611C,LTN1:NM_015565:exon10:c.G1831T:p.G611C, chr21 30339120 30339120 C A het . 25 +line47438 nonsynonymous SNV LTN1:NM_001320766:exon10:c.A1717G:p.S573G,LTN1:NM_015565:exon10:c.A1717G:p.S573G, chr21 30339234 30339234 T C het . 29 +line47439 nonsynonymous SNV LTN1:NM_001320766:exon10:c.A1589G:p.E530G,LTN1:NM_015565:exon10:c.A1589G:p.E530G, chr21 30339362 30339362 T C het . 27 +line47441 nonsynonymous SNV LTN1:NM_001320766:exon9:c.T1346C:p.L449S,LTN1:NM_015565:exon9:c.T1346C:p.L449S, chr21 30341891 30341891 A G het . 16 +line47451 nonsynonymous SNV USP16:NM_001001992:exon5:c.A423T:p.Q141H,USP16:NM_001032410:exon6:c.A423T:p.Q141H,USP16:NM_006447:exon5:c.A423T:p.Q141H, chr21 30408670 30408670 A T het . 16 +line47469 synonymous SNV BACH1:NM_001186:exon5:c.T1833C:p.G611G,BACH1:NM_206866:exon5:c.T1833C:p.G611G, chr21 30714776 30714776 T C het . 23 +line47512 synonymous SNV KRTAP24-1:NM_001085455:exon1:c.T39G:p.G13G, chr21 31655212 31655212 A C het . 4 +line47513 nonsynonymous SNV KRTAP25-1:NM_001128598:exon1:c.T118C:p.S40P, chr21 31661691 31661691 A G het . 20 +line47515 nonsynonymous SNV KRTAP27-1:NM_001077711:exon1:c.C296T:p.A99V, chr21 31709691 31709691 G A het . 31 +line47516 stopgain KRTAP13-2:NM_181621:exon1:c.T405A:p.C135X, chr21 31744127 31744127 A T het . 21 +line47518 nonsynonymous SNV KRTAP13-4:NM_181600:exon1:c.G175A:p.A59T, chr21 31802768 31802768 G A het . 17 +line47519 nonsynonymous SNV KRTAP15-1:NM_181623:exon1:c.C127A:p.L43M, chr21 31812772 31812772 C A het . 21 +line47524 nonsynonymous SNV KRTAP19-4:NM_181610:exon1:c.A143G:p.Y48C, chr21 31869286 31869286 T C het . 20 +line47525 frameshift deletion KRTAP19-6:NM_181612:exon1:c.171delC:p.F57fs, chr21 31913982 31913982 G - het . 16 +line47526 synonymous SNV KRTAP19-6:NM_181612:exon1:c.A153T:p.G51G,KRTAP19-6:NM_001303120:exon1:c.A153T:p.G51G, chr21 31914000 31914000 T A het . 17 +line47528 nonsynonymous SNV KRTAP6-3:NM_181605:exon1:c.A152C:p.Y51S, chr21 31964916 31964916 A C het . 8 +line47531 nonsynonymous SNV KRTAP22-1:NM_181620:exon1:c.T77A:p.L26H, chr21 31973516 31973516 T A het . 13 +line47533 nonsynonymous SNV KRTAP6-1:NM_181602:exon1:c.C127T:p.R43C, chr21 31986097 31986097 G A het . 16 +line47561 nonsynonymous SNV TIAM1:NM_001353688:exon11:c.C2108G:p.S703C,TIAM1:NM_001353687:exon9:c.C2108G:p.S703C,TIAM1:NM_001353693:exon10:c.C2108G:p.S703C,TIAM1:NM_001353686:exon9:c.C2108G:p.S703C,TIAM1:NM_001353691:exon11:c.C2108G:p.S703C,TIAM1:NM_001353689:exon10:c.C2108G:p.S703C,TIAM1:NM_001353692:exon9:c.C2108G:p.S703C,TIAM1:NM_003253:exon10:c.C2108G:p.S703C,TIAM1:NM_001353690:exon9:c.C2108G:p.S703C,TIAM1:NM_001353694:exon9:c.C2108G:p.S703C, chr21 32589903 32589903 G C het . 7 +line47564 nonframeshift substitution TIAM1:NM_001353688:exon6:c.739_740AT,TIAM1:NM_001353687:exon4:c.739_740AT,TIAM1:NM_001353693:exon5:c.739_740AT,TIAM1:NM_001353686:exon4:c.739_740AT,TIAM1:NM_001353691:exon6:c.739_740AT,TIAM1:NM_001353689:exon5:c.739_740AT,TIAM1:NM_001353692:exon4:c.739_740AT,TIAM1:NM_003253:exon5:c.739_740AT,TIAM1:NM_001353690:exon4:c.739_740AT,TIAM1:NM_001353694:exon4:c.739_740AT, chr21 32638549 32638550 CC AT het . 40 +line47586 synonymous SNV HUNK:NM_014586:exon10:c.T1413C:p.L471L, chr21 33368188 33368188 T C het . 25 +line47588 synonymous SNV HUNK:NM_014586:exon11:c.T1548C:p.S516S, chr21 33370900 33370900 T C het . 6 +line47601 synonymous SNV URB1:NM_014825:exon38:c.T6546C:p.A2182A, chr21 33688865 33688865 A G het . 12 +line47602 nonsynonymous SNV URB1:NM_014825:exon34:c.G5371C:p.V1791L, chr21 33694224 33694224 C G het . 17 +line47605 synonymous SNV URB1:NM_014825:exon22:c.T3733C:p.L1245L, chr21 33719400 33719400 A G het . 7 +line47606 synonymous SNV URB1:NM_014825:exon22:c.G3438A:p.K1146K, chr21 33719695 33719695 C T het . 14 +line47614 synonymous SNV URB1:NM_014825:exon4:c.C535T:p.L179L, chr21 33755763 33755763 G A het . 16 +line47615 nonsynonymous SNV URB1:NM_014825:exon2:c.T189A:p.D63E, chr21 33757947 33757947 A T het . 19 +line47626 nonframeshift insertion SYNJ1:NM_001160306:exon28:c.3957_3958insAATACT:p.L1320delinsNTL,SYNJ1:NM_003895:exon32:c.4215_4216insAATACT:p.L1406delinsNTL, chr21 34003928 34003928 - AGTATT het . 28 +line47642 nonsynonymous SNV C21orf62:NM_001162495:exon4:c.T543A:p.F181L,C21orf62:NM_019596:exon3:c.T543A:p.F181L,C21orf62:NM_001162496:exon2:c.T543A:p.F181L, chr21 34166190 34166190 A T het . 25 +line47643 synonymous SNV C21orf62:NM_001162495:exon4:c.G390A:p.E130E,C21orf62:NM_019596:exon3:c.G390A:p.E130E,C21orf62:NM_001162496:exon2:c.G390A:p.E130E, chr21 34166343 34166343 C T het . 11 +line47666 nonsynonymous SNV IFNAR2:NM_001289126:exon2:c.T23C:p.F8S,IFNAR2:NM_207584:exon2:c.T23C:p.F8S,IFNAR2:NM_001289125:exon2:c.T23C:p.F8S,IFNAR2:NM_000874:exon2:c.T23C:p.F8S,IFNAR2:NM_207585:exon2:c.T23C:p.F8S,IFNAR2:NM_001289128:exon2:c.T23C:p.F8S, chr21 34614250 34614250 T C het . 18 +line47667 nonsynonymous SNV IFNAR2:NM_001289126:exon2:c.T28G:p.F10V,IFNAR2:NM_207584:exon2:c.T28G:p.F10V,IFNAR2:NM_001289125:exon2:c.T28G:p.F10V,IFNAR2:NM_000874:exon2:c.T28G:p.F10V,IFNAR2:NM_207585:exon2:c.T28G:p.F10V,IFNAR2:NM_001289128:exon2:c.T28G:p.F10V, chr21 34614255 34614255 T G het . 20 +line47706 frameshift deletion DNAJC28:NM_001320746:exon2:c.947_951del:p.L316fs,DNAJC28:NM_017833:exon2:c.947_951del:p.L316fs,DNAJC28:NM_001040192:exon2:c.947_951del:p.L316fs, chr21 34860750 34860754 AATTA - het . 15 +line47710 nonsynonymous SNV GART:NM_001136005:exon17:c.A2255G:p.D752G,GART:NM_001136006:exon17:c.A2255G:p.D752G,GART:NM_000819:exon17:c.A2255G:p.D752G, chr21 34883618 34883618 T C het . 33 +line47713 nonsynonymous SNV GART:NM_001136005:exon12:c.G1314C:p.K438N,GART:NM_001136006:exon12:c.G1314C:p.K438N,GART:NM_000819:exon12:c.G1314C:p.K438N, chr21 34894574 34894574 C G het . 13 +line47716 nonsynonymous SNV GART:NM_001136005:exon11:c.G1261A:p.V421I,GART:NM_175085:exon11:c.G1261A:p.V421I,GART:NM_001136006:exon11:c.G1261A:p.V421I,GART:NM_000819:exon11:c.G1261A:p.V421I, chr21 34897113 34897113 C T het . 23 +line47721 synonymous SNV SON:NM_001291411:exon3:c.T2706C:p.D902D,SON:NM_032195:exon3:c.T2706C:p.D902D,SON:NM_138927:exon3:c.T2706C:p.D902D, chr21 34924243 34924243 T C het . 20 +line47722 nonsynonymous SNV SON:NM_001291411:exon3:c.C3605T:p.S1202L,SON:NM_032195:exon3:c.C3605T:p.S1202L,SON:NM_138927:exon3:c.C3605T:p.S1202L, chr21 34925142 34925142 C T het . 11 +line47723 synonymous SNV SON:NM_001291411:exon3:c.G4152A:p.L1384L,SON:NM_032195:exon3:c.G4152A:p.L1384L,SON:NM_138927:exon3:c.G4152A:p.L1384L, chr21 34925689 34925689 G A het . 7 +line47724 nonsynonymous SNV SON:NM_001291411:exon3:c.C4723T:p.R1575C,SON:NM_032195:exon3:c.C4723T:p.R1575C,SON:NM_138927:exon3:c.C4723T:p.R1575C, chr21 34926260 34926260 C T het . 11 +line47729 frameshift insertion SON:NM_001291412:exon11:c.1320dupA:p.G440fs,SON:NM_138927:exon12:c.7236dupA:p.G2412fs, chr21 34948684 34948684 - A het . 17 +line47730 frameshift deletion SON:NM_001291412:exon11:c.1332delA:p.R444fs,SON:NM_138927:exon12:c.7248delA:p.R2416fs, chr21 34948697 34948697 A - het . 18 +line47743 nonsynonymous SNV ITSN1:NM_001331011:exon18:c.G2089T:p.G697C,ITSN1:NM_001331009:exon18:c.G2089T:p.G697C,ITSN1:NM_003024:exon18:c.G2089T:p.G697C,ITSN1:NM_001331010:exon18:c.G2089T:p.G697C,ITSN1:NM_001001132:exon18:c.G2089T:p.G697C,ITSN1:NM_001331012:exon18:c.G1978T:p.G660C,ITSN1:NM_001331008:exon18:c.G2089T:p.G697C, chr21 35169819 35169819 G T het . 34 +line47747 synonymous SNV ITSN1:NM_003024:exon32:c.T4044C:p.D1348D,ITSN1:NM_001331010:exon31:c.T4029C:p.D1343D, chr21 35237608 35237608 T C het . 2 +line47755 synonymous SNV ITSN1:NM_003024:exon40:c.T5043C:p.R1681R,ITSN1:NM_001331010:exon39:c.T5028C:p.R1676R, chr21 35260481 35260481 T C het . 10 +line47759 synonymous SNV ATP5PO:NM_001697:exon4:c.T321C:p.N107N, chr21 35281393 35281393 A G het . 14 +line47760 nonsynonymous SNV ATP5PO:NM_001697:exon4:c.A293G:p.K98R, chr21 35281421 35281421 T C het . 20 +line47765 nonsynonymous SNV SLC5A3:NM_006933:exon2:c.A148G:p.T50A, chr21 35467645 35467645 A G het . 9 +line47766 nonsynonymous SNV SLC5A3:NM_006933:exon2:c.C1696A:p.Q566K, chr21 35469193 35469193 C A het . 16 +line47781 nonsynonymous SNV KCNE1B:NM_001330065:exon3:c.A121G:p.S41G,KCNE1:NM_001270404:exon2:c.A112G:p.S38G,KCNE1:NM_001127669:exon3:c.A112G:p.S38G,KCNE1:NM_001270405:exon3:c.A112G:p.S38G,KCNE1:NM_001127668:exon3:c.A112G:p.S38G,KCNE1:NM_001127670:exon2:c.A112G:p.S38G,KCNE1:NM_000219:exon4:c.A112G:p.S38G,KCNE1:NM_001270403:exon3:c.A112G:p.S38G,KCNE1:NM_001270402:exon3:c.A112G:p.S38G, chr21 35821821 35821821 T C het . 16 +line47794 nonsynonymous SNV CLIC6:NM_053277:exon1:c.C892G:p.Q298E,CLIC6:NM_001317009:exon1:c.C892G:p.Q298E, chr21 36042579 36042579 C G het . 3 +line47795 synonymous SNV CLIC6:NM_053277:exon1:c.G897A:p.S299S,CLIC6:NM_001317009:exon1:c.G897A:p.S299S, chr21 36042584 36042584 G A het . 3 +line47798 synonymous SNV CLIC6:NM_053277:exon3:c.C1533T:p.F511F,CLIC6:NM_001317009:exon4:c.C1587T:p.F529F, chr21 36080290 36080290 C T het . 28 +line47848 nonsynonymous SNV SETD4:NM_001286752:exon11:c.A1087G:p.I363V,SETD4:NM_017438:exon10:c.A1159G:p.I387V, chr21 37410477 37410477 T C het . 20 +line47872 synonymous SNV CBR3:NM_001236:exon1:c.C255T:p.N85N, chr21 37507745 37507745 C T het . 8 +line47875 synonymous SNV CBR3:NM_001236:exon3:c.G606A:p.T202T, chr21 37518582 37518582 G A het . 21 +line47876 nonsynonymous SNV CBR3:NM_001236:exon3:c.G730A:p.V244M, chr21 37518706 37518706 G A het . 6 +line47877 nonsynonymous SNV DOP1B:NM_005128:exon2:c.C130A:p.L44I,DOP1B:NM_001320714:exon2:c.C130A:p.L44I, chr21 37537161 37537161 C A het . 13 +line47889 synonymous SNV DOP1B:NM_005128:exon16:c.T2634C:p.R878R,DOP1B:NM_001320714:exon16:c.T2634C:p.R878R, chr21 37609571 37609571 T C het . 14 +line47890 nonsynonymous SNV DOP1B:NM_005128:exon19:c.T3352G:p.C1118G,DOP1B:NM_001320714:exon19:c.T3352G:p.C1118G, chr21 37617630 37617630 T G het . 16 +line47905 synonymous SNV DOP1B:NM_005128:exon36:c.G6615A:p.R2205R,DOP1B:NM_001320714:exon36:c.G6615A:p.R2205R, chr21 37664501 37664501 G A het . 15 +line47930 synonymous SNV MORC3:NM_001320445:exon13:c.C1287T:p.S429S,MORC3:NM_001320446:exon15:c.C1287T:p.S429S,MORC3:NM_015358:exon14:c.C1500T:p.S500S, chr21 37736438 37736438 C T het . 21 +line47933 synonymous SNV MORC3:NM_001320445:exon14:c.T2050C:p.L684L,MORC3:NM_001320446:exon16:c.T2050C:p.L684L,MORC3:NM_015358:exon15:c.T2263C:p.L755L, chr21 37741929 37741929 T C het . 37 +line47959 nonsynonymous SNV SIM2:NM_009586:exon2:c.C188T:p.A63V,SIM2:NM_005069:exon2:c.C188T:p.A63V, chr21 38081480 38081480 C T het . 8 +line47991 nonsynonymous SNV PIGP:NM_153681:exon1:c.G25A:p.A9T, chr21 38444863 38444863 C T het . 20 +line47992 nonsynonymous SNV PIGP:NM_153681:exon1:c.C7T:p.P3S, chr21 38444881 38444881 G A het . 14 +line48005 synonymous SNV TTC3:NM_001001894:exon20:c.A1755G:p.V585V,TTC3:NM_001353936:exon11:c.A825G:p.V275V,TTC3:NM_001320704:exon20:c.A1755G:p.V585V,TTC3:NM_001330682:exon11:c.A825G:p.V275V,TTC3:NM_003316:exon20:c.A1755G:p.V585V,TTC3:NM_001330683:exon20:c.A1755G:p.V585V,TTC3:NM_001330681:exon11:c.A825G:p.V275V,TTC3:NM_001320703:exon20:c.A1821G:p.V607V, chr21 38512956 38512956 A G het . 14 +line48012 nonsynonymous SNV TTC3:NM_001353938:exon17:c.T353C:p.M118T,TTC3:NM_001001894:exon27:c.T2519C:p.M840T,TTC3:NM_001353937:exon26:c.T353C:p.M118T,TTC3:NM_001353936:exon18:c.T1589C:p.M530T,TTC3:NM_001320704:exon27:c.T2519C:p.M840T,TTC3:NM_001330682:exon18:c.T1589C:p.M530T,TTC3:NM_003316:exon27:c.T2519C:p.M840T,TTC3:NM_001330683:exon27:c.T2519C:p.M840T,TTC3:NM_001330681:exon18:c.T1589C:p.M530T,TTC3:NM_001320703:exon27:c.T2585C:p.M862T, chr21 38525356 38525356 T C het . 14 +line48017 nonsynonymous SNV TTC3:NM_001353938:exon18:c.G605A:p.R202H,TTC3:NM_001001894:exon28:c.G2771A:p.R924H,TTC3:NM_001353937:exon27:c.G605A:p.R202H,TTC3:NM_001353936:exon19:c.G1841A:p.R614H,TTC3:NM_001320704:exon28:c.G2771A:p.R924H,TTC3:NM_001330682:exon19:c.G1841A:p.R614H,TTC3:NM_003316:exon28:c.G2771A:p.R924H,TTC3:NM_001330683:exon28:c.G2771A:p.R924H,TTC3:NM_001330681:exon19:c.G1841A:p.R614H,TTC3:NM_001320703:exon28:c.G2837A:p.R946H, chr21 38528987 38528987 G A het . 13 +line48048 synonymous SNV TTC3:NM_001353938:exon30:c.G2949A:p.K983K,TTC3:NM_001001894:exon40:c.G5115A:p.K1705K,TTC3:NM_001353937:exon39:c.G2949A:p.K983K,TTC3:NM_001353936:exon31:c.G4185A:p.K1395K,TTC3:NM_001320704:exon41:c.G5169A:p.K1723K,TTC3:NM_001330682:exon31:c.G4185A:p.K1395K,TTC3:NM_003316:exon40:c.G5115A:p.K1705K,TTC3:NM_001330683:exon40:c.G5115A:p.K1705K,TTC3:NM_001330681:exon31:c.G4185A:p.K1395K,TTC3:NM_001320703:exon41:c.G5235A:p.K1745K, chr21 38563725 38563725 G A het . 21 +line48052 nonsynonymous SNV TTC3:NM_001353938:exon32:c.G3085C:p.D1029H,TTC3:NM_001001894:exon42:c.G5251C:p.D1751H,TTC3:NM_001353937:exon41:c.G3085C:p.D1029H,TTC3:NM_001353936:exon33:c.G4321C:p.D1441H,TTC3:NM_001320704:exon43:c.G5305C:p.D1769H,TTC3:NM_001330682:exon33:c.G4321C:p.D1441H,TTC3:NM_003316:exon42:c.G5251C:p.D1751H,TTC3:NM_001330683:exon42:c.G5251C:p.D1751H,TTC3:NM_001330681:exon33:c.G4321C:p.D1441H,TTC3:NM_001320703:exon43:c.G5371C:p.D1791H, chr21 38568009 38568009 G C het . 8 +line48053 synonymous SNV TTC3:NM_001353938:exon32:c.C3384T:p.H1128H,TTC3:NM_001001894:exon42:c.C5550T:p.H1850H,TTC3:NM_001353937:exon41:c.C3384T:p.H1128H,TTC3:NM_001353936:exon33:c.C4620T:p.H1540H,TTC3:NM_001320704:exon43:c.C5604T:p.H1868H,TTC3:NM_001330682:exon33:c.C4620T:p.H1540H,TTC3:NM_003316:exon42:c.C5550T:p.H1850H,TTC3:NM_001330683:exon42:c.C5550T:p.H1850H,TTC3:NM_001330681:exon33:c.C4620T:p.H1540H,TTC3:NM_001320703:exon43:c.C5670T:p.H1890H, chr21 38568308 38568308 C T het . 12 +line48082 synonymous SNV KCNJ6:NM_002240:exon4:c.C1032T:p.D344D, chr21 38997701 38997701 G A het . 8 +line48093 synonymous SNV KCNJ6:NM_002240:exon3:c.A495G:p.P165P, chr21 39086965 39086965 T C het . 14 +line48116 nonsynonymous SNV KCNJ15:NM_170736:exon3:c.G293A:p.G98D,KCNJ15:NM_001276439:exon4:c.G293A:p.G98D,KCNJ15:NM_170737:exon3:c.G293A:p.G98D,KCNJ15:NM_001276435:exon5:c.G293A:p.G98D,KCNJ15:NM_001276437:exon4:c.G293A:p.G98D,KCNJ15:NM_001276438:exon3:c.G293A:p.G98D,KCNJ15:NM_001276436:exon5:c.G293A:p.G98D,KCNJ15:NM_002243:exon4:c.G293A:p.G98D, chr21 39671476 39671476 G A het . 12 +line48136 synonymous SNV ETS2:NM_005239:exon8:c.T816G:p.T272T,ETS2:NM_001256295:exon9:c.T1236G:p.T412T, chr21 40191431 40191431 T G het . 10 +line48137 synonymous SNV ETS2:NM_005239:exon8:c.A1023G:p.P341P,ETS2:NM_001256295:exon9:c.A1443G:p.P481P, chr21 40191638 40191638 A G het . 22 +line48170 synonymous SNV PSMG1:NM_203433:exon3:c.T297C:p.A99A,PSMG1:NM_003720:exon3:c.T297C:p.A99A,PSMG1:NM_001320795:exon3:c.T36C:p.A12A,PSMG1:NM_001261824:exon3:c.T297C:p.A99A, chr21 40552307 40552307 A G het . 10 +line48173 nonsynonymous SNV BRWD1:NM_018963:exon42:c.T6943C:p.W2315R, chr21 40558972 40558972 A G het . 13 +line48174 nonsynonymous SNV BRWD1:NM_033656:exon40:c.T5096C:p.L1699P,BRWD1:NM_018963:exon40:c.T5096C:p.L1699P, chr21 40571246 40571246 A G het . 23 +line48175 nonsynonymous SNV BRWD1:NM_033656:exon38:c.T4531C:p.S1511P,BRWD1:NM_018963:exon38:c.T4531C:p.S1511P, chr21 40574305 40574305 A G het . 20 +line48178 synonymous SNV BRWD1:NM_033656:exon34:c.G3894A:p.R1298R,BRWD1:NM_018963:exon34:c.G3894A:p.R1298R, chr21 40584598 40584598 C T het . 19 +line48195 synonymous SNV BRWD1:NM_033656:exon15:c.A1497C:p.T499T,BRWD1:NM_018963:exon15:c.A1497C:p.T499T, chr21 40641858 40641858 T G het . 14 +line48204 nonsynonymous SNV BRWD1:NM_033656:exon5:c.C247G:p.Q83E,BRWD1:NM_001007246:exon5:c.C247G:p.Q83E,BRWD1:NM_018963:exon5:c.C247G:p.Q83E, chr21 40670460 40670460 G C het . 10 +line48224 nonsynonymous SNV SH3BGR:NM_007341:exon1:c.G148A:p.D50N,SH3BGR:NM_001317740:exon1:c.G148A:p.D50N, chr21 40823981 40823981 G A het . 9 +line48229 nonsynonymous SNV SH3BGR:NM_007341:exon4:c.T563C:p.V188A,SH3BGR:NM_001317742:exon4:c.T230C:p.V77A,SH3BGR:NM_001001713:exon4:c.T230C:p.V77A,WRB-SH3BGR:NM_001317744:exon6:c.T665C:p.V222A,WRB-SH3BGR:NM_001350300:exon6:c.T665C:p.V222A, chr21 40871810 40871810 T C het . 20 +line48231 nonframeshift insertion SH3BGR:NM_001317741:exon5:c.263_264insAGA:p.G88delinsGE,SH3BGR:NM_007341:exon6:c.689_690insAGA:p.G230delinsGE,SH3BGR:NM_001317742:exon6:c.356_357insAGA:p.G119delinsGE,SH3BGR:NM_001001713:exon6:c.356_357insAGA:p.G119delinsGE,WRB-SH3BGR:NM_001317744:exon8:c.791_792insAGA:p.G264delinsGE,SH3BGR:NM_001317740:exon5:c.596_597insAGA:p.G199delinsGE, chr21 40883671 40883671 - AGA het . 8 +line48259 nonsynonymous SNV B3GALT5:NM_001356338:exon4:c.T254C:p.M85T,B3GALT5:NM_001356336:exon4:c.T254C:p.M85T,B3GALT5:NM_001356339:exon3:c.T254C:p.M85T,B3GALT5:NM_033171:exon4:c.T254C:p.M85T,B3GALT5:NM_001278650:exon3:c.T254C:p.M85T,B3GALT5:NM_033170:exon3:c.T254C:p.M85T,B3GALT5:NM_006057:exon3:c.T254C:p.M85T,B3GALT5:NM_033172:exon3:c.T266C:p.M89T, chr21 41032740 41032740 T C het . 9 +line48260 synonymous SNV B3GALT5:NM_001356338:exon4:c.G318A:p.T106T,B3GALT5:NM_001356336:exon4:c.G318A:p.T106T,B3GALT5:NM_001356339:exon3:c.G318A:p.T106T,B3GALT5:NM_033171:exon4:c.G318A:p.T106T,B3GALT5:NM_001278650:exon3:c.G318A:p.T106T,B3GALT5:NM_033170:exon3:c.G318A:p.T106T,B3GALT5:NM_006057:exon3:c.G318A:p.T106T,B3GALT5:NM_033172:exon3:c.G330A:p.T110T, chr21 41032804 41032804 G A het . 13 +line48270 synonymous SNV IGSF5:NM_001080444:exon3:c.A138G:p.Q46Q, chr21 41137499 41137499 A G het . 3 +line48271 nonsynonymous SNV IGSF5:NM_001080444:exon3:c.G146C:p.R49T, chr21 41137507 41137507 G C het . 4 +line48278 nonsynonymous SNV IGSF5:NM_001080444:exon8:c.C1050A:p.D350E, chr21 41165462 41165462 C A het . 13 +line48317 synonymous SNV DSCAM:NM_001389:exon9:c.G1980A:p.S660S,DSCAM:NM_001271534:exon9:c.G1980A:p.S660S, chr21 41684090 41684090 C T het . 29 +line48373 synonymous SNV FAM3B:NM_058186:exon5:c.T396C:p.G132G,FAM3B:NM_206964:exon4:c.T252C:p.G84G, chr21 42717662 42717662 T C het . 17 +line48387 synonymous SNV MX1:NM_001178046:exon14:c.A1623G:p.A541A,MX1:NM_002462:exon16:c.A1623G:p.A541A,MX1:NM_001144925:exon18:c.A1623G:p.A541A, chr21 42824661 42824661 A G het . 17 +line48390 synonymous SNV MX1:NM_001282920:exon10:c.A1509G:p.T503T, chr21 42830690 42830690 A G het . 5 +line48397 synonymous SNV TMPRSS2:NM_001135099:exon9:c.C888T:p.G296G,TMPRSS2:NM_005656:exon9:c.C777T:p.G259G, chr21 42845374 42845374 G A het . 11 +line48398 synonymous SNV TMPRSS2:NM_001135099:exon9:c.T879C:p.I293I,TMPRSS2:NM_005656:exon9:c.T768C:p.I256I, chr21 42845383 42845383 A G het . 9 +line48401 nonsynonymous SNV TMPRSS2:NM_001135099:exon6:c.G589A:p.V197M,TMPRSS2:NM_005656:exon6:c.G478A:p.V160M, chr21 42852497 42852497 C T het . 21 +line48405 nonsynonymous SNV TMPRSS2:NM_001135099:exon1:c.G23T:p.G8V, chr21 42879909 42879909 C A het . 4 +line48425 synonymous SNV RIPK4:NM_020639:exon1:c.G159A:p.S53S, chr21 43187043 43187043 C T het . 12 +line48426 nonsynonymous SNV RIPK4:NM_020639:exon1:c.C35G:p.A12G, chr21 43187167 43187167 G C het . 13 +line48428 nonsynonymous SNV PRDM15:NM_001282934:exon25:c.T3514C:p.S1172P,PRDM15:NM_001040424:exon24:c.T3454C:p.S1152P,PRDM15:NM_022115:exon31:c.T4441C:p.S1481P, chr21 43221483 43221483 A G het . 2 +line48429 synonymous SNV PRDM15:NM_001282934:exon25:c.A3171G:p.L1057L,PRDM15:NM_001040424:exon24:c.A3111G:p.L1037L,PRDM15:NM_022115:exon31:c.A4098G:p.L1366L, chr21 43221826 43221826 T C het . 3 +line48433 synonymous SNV PRDM15:NM_001282934:exon19:c.T2397C:p.N799N,PRDM15:NM_001040424:exon18:c.T2337C:p.N779N,PRDM15:NM_022115:exon25:c.T3324C:p.N1108N, chr21 43239972 43239972 A G het . 11 +line48443 nonsynonymous SNV PRDM15:NM_001282934:exon12:c.G1528C:p.D510H, chr21 43254623 43254623 C G het . 17 +line48445 synonymous SNV PRDM15:NM_001282934:exon10:c.G1359A:p.Q453Q,PRDM15:NM_001040424:exon10:c.G1359A:p.Q453Q,PRDM15:NM_022115:exon17:c.G2346A:p.Q782Q, chr21 43256252 43256252 C T het . 11 +line48448 synonymous SNV PRDM15:NM_001282934:exon6:c.G690A:p.E230E,PRDM15:NM_001040424:exon6:c.G690A:p.E230E,PRDM15:NM_022115:exon13:c.G1677A:p.E559E, chr21 43267260 43267260 C T het . 7 +line48451 synonymous SNV PRDM15:NM_022115:exon10:c.C1053T:p.H351H, chr21 43279316 43279316 G A het . 5 +line48456 synonymous SNV C2CD2:NM_015500:exon9:c.G1119A:p.S373S,C2CD2:NM_199050:exon8:c.G654A:p.S218S, chr21 43327793 43327793 C T het . 15 +line48457 synonymous SNV C2CD2:NM_015500:exon9:c.T1056C:p.F352F,C2CD2:NM_199050:exon8:c.T591C:p.F197F, chr21 43327856 43327856 A G het . 28 +line48469 nonsynonymous SNV ZBTB21:NM_001320731:exon4:c.A652C:p.K218Q,ZBTB21:NM_001098403:exon3:c.A652C:p.K218Q,ZBTB21:NM_001098402:exon3:c.A652C:p.K218Q,ZBTB21:NM_001320729:exon2:c.A652C:p.K218Q,ZBTB21:NM_020727:exon2:c.A652C:p.K218Q, chr21 43413553 43413553 T G het . 18 +line48470 synonymous SNV ZBTB21:NM_001320731:exon4:c.G474A:p.A158A,ZBTB21:NM_001098403:exon3:c.G474A:p.A158A,ZBTB21:NM_001098402:exon3:c.G474A:p.A158A,ZBTB21:NM_001320729:exon2:c.G474A:p.A158A,ZBTB21:NM_020727:exon2:c.G474A:p.A158A, chr21 43413731 43413731 C T het . 35 +line48476 synonymous SNV UMODL1:NM_001199528:exon3:c.T138C:p.P46P,UMODL1:NM_173568:exon3:c.T354C:p.P118P,UMODL1:NM_001199527:exon3:c.T138C:p.P46P,UMODL1:NM_001004416:exon3:c.T354C:p.P118P, chr21 43504228 43504228 T C het . 5 +line48478 nonsynonymous SNV UMODL1:NM_173568:exon11:c.C2071G:p.R691G,UMODL1:NM_001199527:exon11:c.C1855G:p.R619G, chr21 43531403 43531403 C G het . 12 +line48479 nonsynonymous SNV UMODL1:NM_173568:exon11:c.A2221C:p.T741P,UMODL1:NM_001199527:exon11:c.A2005C:p.T669P, chr21 43531553 43531553 A C het . 17 +line48480 nonsynonymous SNV UMODL1:NM_001199528:exon12:c.T1700C:p.I567T,UMODL1:NM_173568:exon11:c.T2300C:p.I767T,UMODL1:NM_001199527:exon11:c.T2084C:p.I695T,UMODL1:NM_001004416:exon12:c.T1916C:p.I639T, chr21 43531632 43531632 T C het . 9 +line48482 synonymous SNV UMODL1:NM_001199528:exon14:c.C2160A:p.L720L,UMODL1:NM_173568:exon13:c.C2760A:p.L920L,UMODL1:NM_001199527:exon13:c.C2544A:p.L848L,UMODL1:NM_001004416:exon14:c.C2376A:p.L792L, chr21 43535996 43535996 C A het . 18 +line48483 synonymous SNV UMODL1:NM_001199528:exon20:c.T3321C:p.P1107P,UMODL1:NM_173568:exon19:c.T3921C:p.P1307P,UMODL1:NM_001199527:exon19:c.T3705C:p.P1235P,UMODL1:NM_001004416:exon20:c.T3537C:p.P1179P, chr21 43547788 43547788 T C het . 8 +line48484 nonsynonymous SNV UMODL1:NM_001199528:exon20:c.G3406A:p.D1136N,UMODL1:NM_173568:exon19:c.G4006A:p.D1336N,UMODL1:NM_001199527:exon19:c.G3790A:p.D1264N,UMODL1:NM_001004416:exon20:c.G3622A:p.D1208N, chr21 43547873 43547873 G A het . 17 +line48491 nonsynonymous SNV ABCG1:NM_207174:exon14:c.C1726A:p.L576I,ABCG1:NM_004915:exon14:c.C1729A:p.L577I,ABCG1:NM_016818:exon14:c.C1693A:p.L565I,ABCG1:NM_207628:exon16:c.C1627A:p.L543I,ABCG1:NM_207627:exon15:c.C1699A:p.L567I,ABCG1:NM_207629:exon14:c.C1684A:p.L562I, chr21 43714691 43714691 C A het . 23 +line48503 synonymous SNV TFF1:NM_003225:exon2:c.C222T:p.I74I, chr21 43783380 43783380 G A het . 16 +line48508 nonsynonymous SNV TMPRSS3:NM_032404:exon5:c.A376G:p.I126V,TMPRSS3:NM_001256317:exon8:c.A757G:p.I253V,TMPRSS3:NM_032405:exon8:c.A757G:p.I253V,TMPRSS3:NM_024022:exon8:c.A757G:p.I253V, chr21 43803167 43803167 T C het . 16 +line48510 synonymous SNV TMPRSS3:NM_032404:exon3:c.G72A:p.V24V,TMPRSS3:NM_001256317:exon6:c.G453A:p.V151V,TMPRSS3:NM_032405:exon6:c.G453A:p.V151V,TMPRSS3:NM_024022:exon6:c.G453A:p.V151V, chr21 43805637 43805637 C T het . 28 +line48518 nonsynonymous SNV UBASH3A:NM_018961:exon1:c.A52G:p.S18G,UBASH3A:NM_001001895:exon1:c.A52G:p.S18G,UBASH3A:NM_001243467:exon1:c.A52G:p.S18G, chr21 43824106 43824106 A G het . 7 +line48519 synonymous SNV UBASH3A:NM_018961:exon1:c.G69C:p.S23S,UBASH3A:NM_001001895:exon1:c.G69C:p.S23S,UBASH3A:NM_001243467:exon1:c.G69C:p.S23S, chr21 43824123 43824123 G C het . 7 +line48526 synonymous SNV UBASH3A:NM_018961:exon13:c.A1731G:p.P577P,UBASH3A:NM_001001895:exon12:c.A1617G:p.P539P, chr21 43863521 43863521 A G het . 8 +line48528 nonsynonymous SNV RSPH1:NM_080860:exon8:c.G742A:p.G248R,RSPH1:NM_001286506:exon7:c.G628A:p.G210R, chr21 43896143 43896143 C T het . 5 +line48531 synonymous SNV RSPH1:NM_080860:exon5:c.G393A:p.A131A,RSPH1:NM_001286506:exon4:c.G279A:p.A93A, chr21 43905887 43905887 C T het . 15 +line48539 nonsynonymous SNV SLC37A1:NM_018964:exon16:c.G1240A:p.V414I,SLC37A1:NM_001320537:exon15:c.G1240A:p.V414I, chr21 43985955 43985955 G A het . 16 +line48570 synonymous SNV PDE9A:NM_001001569:exon8:c.C519T:p.C173C,PDE9A:NM_001001567:exon11:c.C723T:p.C241C,PDE9A:NM_001001582:exon11:c.C780T:p.C260C,PDE9A:NM_001001583:exon11:c.C825T:p.C275C,PDE9A:NM_001001579:exon9:c.C282T:p.C94C,PDE9A:NM_001001574:exon10:c.C645T:p.C215C,PDE9A:NM_001001580:exon6:c.C252T:p.C84C,PDE9A:NM_001001573:exon9:c.C282T:p.C94C,PDE9A:NM_001001575:exon7:c.C423T:p.C141C,PDE9A:NM_001001568:exon9:c.C522T:p.C174C,PDE9A:NM_001315533:exon12:c.C579T:p.C193C,PDE9A:NM_001001584:exon10:c.C282T:p.C94C,PDE9A:NM_002606:exon12:c.C903T:p.C301C,PDE9A:NM_001001571:exon10:c.C600T:p.C200C,PDE9A:NM_001001585:exon10:c.C282T:p.C94C,PDE9A:NM_001001581:exon10:c.C702T:p.C234C,PDE9A:NM_001001572:exon8:c.C282T:p.C94C,PDE9A:NM_001001576:exon7:c.C252T:p.C84C,PDE9A:NM_001001577:exon8:c.C501T:p.C167C,PDE9A:NM_001001578:exon9:c.C597T:p.C199C,PDE9A:NM_001001570:exon11:c.C744T:p.C248C, chr21 44180443 44180443 C T het . 10 +line48579 nonsynonymous SNV WDR4:NM_033661:exon11:c.G1169A:p.R390Q,WDR4:NM_001260475:exon11:c.G731A:p.R244Q,WDR4:NM_001260477:exon11:c.G731A:p.R244Q,WDR4:NM_001260474:exon11:c.G1166A:p.R389Q,WDR4:NM_001260476:exon11:c.G731A:p.R244Q,WDR4:NM_018669:exon11:c.G1169A:p.R390Q, chr21 44270229 44270229 C T het . 16 +line48581 nonsynonymous SNV WDR4:NM_033661:exon9:c.C796T:p.P266S,WDR4:NM_001260475:exon9:c.C358T:p.P120S,WDR4:NM_001260477:exon9:c.C358T:p.P120S,WDR4:NM_001260474:exon9:c.C793T:p.P265S,WDR4:NM_001260476:exon9:c.C358T:p.P120S,WDR4:NM_018669:exon9:c.C796T:p.P266S, chr21 44273858 44273858 G A het . 8 +line48586 nonsynonymous SNV WDR4:NM_033661:exon3:c.G213C:p.K71N,WDR4:NM_001260474:exon3:c.G213C:p.K71N,WDR4:NM_018669:exon3:c.G213C:p.K71N, chr21 44293744 44293744 C G het . 17 +line48596 synonymous SNV NDUFV3:NM_021075:exon3:c.T468G:p.S156S, chr21 44323590 44323590 T G het . 50 +line48597 nonsynonymous SNV NDUFV3:NM_021075:exon3:c.G1243A:p.D415N, chr21 44324365 44324365 G A het . 25 +line48599 nonsynonymous SNV ERVH48-1:NM_001308491:exon2:c.C449T:p.P150L, chr21 44338668 44338668 G A het . 10 +line48607 synonymous SNV PKNOX1:NM_001320694:exon4:c.T342C:p.T114T,PKNOX1:NM_004571:exon4:c.T342C:p.T114T, chr21 44430325 44430325 T C het . 7 +line48617 synonymous SNV CBS:NM_001178008:exon12:c.C1080T:p.A360A,CBSL:NM_001354012:exon12:c.C1080T:p.A360A,CBS:NM_001320298:exon13:c.C1080T:p.A360A,CBSL:NM_001354010:exon12:c.C1080T:p.A360A,CBSL:NM_001354009:exon12:c.C1080T:p.A360A,CBSL:NM_001321073:exon12:c.C1080T:p.A360A,CBS:NM_001321072:exon9:c.C765T:p.A255A,CBSL:NM_001354008:exon12:c.C1080T:p.A360A,CBSL:NM_001354006:exon13:c.C1080T:p.A360A,CBS:NM_001178009:exon12:c.C1080T:p.A360A,CBS:NM_000071:exon12:c.C1080T:p.A360A,CBSL:NM_001354015:exon12:c.C1080T:p.A360A,CBSL:NM_001354014:exon12:c.C1080T:p.A360A,CBSL:NM_001354007:exon13:c.C1080T:p.A360A, chr21 44480616 44480616 G A het . 17 +line48631 synonymous SNV CRYAA2:NM_001314050:exon1:c.C6T:p.D2D,CRYAA:NM_000394:exon1:c.C6T:p.D2D, chr21 44589215 44589215 C T het . 21 +line48635 synonymous SNV SIK1B:NM_001320643:exon13:c.C1848T:p.P616P,SIK1:NM_173354:exon13:c.C1848T:p.P616P, chr21 44837551 44837551 G A het . 9 +line48636 nonsynonymous SNV SIK1B:NM_001320643:exon13:c.C1844T:p.A615V,SIK1:NM_173354:exon13:c.C1844T:p.A615V, chr21 44837555 44837555 G A het . 9 +line48639 synonymous SNV H2BFS:NM_017445:exon1:c.C354T:p.A118A, chr21 44985473 44985473 C T het . 4 +line48655 synonymous SNV RRP1B:NM_015056:exon7:c.G603A:p.A201A, chr21 45096206 45096206 G A het . 22 +line48656 nonsynonymous SNV RRP1B:NM_015056:exon13:c.T1307C:p.L436P, chr21 45107562 45107562 T C het . 3 +line48669 synonymous SNV RRP1:NM_003683:exon7:c.T600C:p.I200I, chr21 45217559 45217559 T C het . 17 +line48671 synonymous SNV RRP1:NM_003683:exon8:c.T759C:p.G253G, chr21 45217929 45217929 T C het . 8 +line48672 synonymous SNV RRP1:NM_003683:exon9:c.T885C:p.V295V, chr21 45219524 45219524 T C het . 12 +line48673 nonsynonymous SNV RRP1:NM_003683:exon10:c.A977G:p.K326R, chr21 45220483 45220483 A G het . 25 +line48682 synonymous SNV TRAPPC10:NM_003274:exon6:c.C750T:p.D250D, chr21 45479055 45479055 C T het . 11 +line48688 nonsynonymous SNV PWP2:NM_005049:exon2:c.G73A:p.D25N, chr21 45528919 45528919 G A het . 20 +line48690 synonymous SNV PWP2:NM_005049:exon9:c.T984C:p.I328I, chr21 45538647 45538647 T C het . 7 +line48695 synonymous SNV PWP2:NM_005049:exon13:c.A1572G:p.T524T, chr21 45540919 45540919 A G het . 13 +line48696 synonymous SNV PWP2:NM_005049:exon15:c.T1951C:p.L651L, chr21 45544594 45544594 T C het . 10 +line48699 nonsynonymous SNV GATD3A:NM_001320383:exon1:c.T17C:p.V6A,GATD3A:NM_004649:exon1:c.T17C:p.V6A,GATD3B:NM_001363760:exon1:c.T17C:p.V6A,GATD3B:NM_001363758:exon1:c.T17C:p.V6A,GATD3A:NM_198155:exon1:c.T17C:p.V6A,GATD3A:NM_001320384:exon1:c.T17C:p.V6A, chr21 45553596 45553596 T C het . 20 +line48721 nonsynonymous SNV DNMT3L:NM_175867:exon10:c.A832G:p.R278G,DNMT3L:NM_013369:exon10:c.A832G:p.R278G, chr21 45670770 45670770 T C het . 9 +line48726 synonymous SNV AIRE:NM_000383:exon6:c.C681T:p.G227G, chr21 45709568 45709568 C T het . 14 +line48728 synonymous SNV AIRE:NM_000383:exon9:c.C1065T:p.P355P, chr21 45712254 45712254 C T het . 15 +line48730 synonymous SNV PFKL:NM_002626:exon4:c.C366T:p.L122L,PFKL:NM_001002021:exon7:c.C516T:p.L172L, chr21 45732116 45732116 C T het . 3 +line48738 synonymous SNV CFAP410:NM_004928:exon1:c.G33A:p.R11R,CFAP410:NM_001271440:exon1:c.G33A:p.R11R,CFAP410:NM_001271441:exon1:c.G33A:p.R11R, chr21 45759045 45759045 C T het . 7 +line48741 nonsynonymous SNV TRPM2:NM_003307:exon11:c.T1629G:p.D543E,TRPM2:NM_001320351:exon11:c.T1629G:p.D543E,TRPM2:NM_001320350:exon11:c.T1629G:p.D543E, chr21 45811343 45811343 T G het . 20 +line48752 nonsynonymous SNV TRPM2:NM_003307:exon24:c.A3566G:p.Q1189R,TRPM2:NM_001320351:exon24:c.A3566G:p.Q1189R,TRPM2:NM_001320350:exon25:c.A3716G:p.Q1239R, chr21 45844751 45844751 A G het . 7 +line48757 nonsynonymous SNV KRTAP10-1:NM_198691:exon1:c.G722A:p.R241Q, chr21 45959312 45959312 C T het . 21 +line48758 nonsynonymous SNV KRTAP10-1:NM_198691:exon1:c.C127A:p.L43M, chr21 45959907 45959907 G T het . 24 +line48759 nonsynonymous SNV KRTAP10-1:NM_198691:exon1:c.C116T:p.P39L, chr21 45959918 45959918 G A het . 22 +line48761 nonsynonymous SNV KRTAP10-2:NM_198693:exon1:c.C530T:p.P177L, chr21 45970812 45970812 G A het . 35 +line48763 nonframeshift deletion KRTAP10-3:NM_198696:exon1:c.493_603del:p.165_201del, chr21 45977996 45978106 GGGGCGGCAGAGGAGGGACACGCAGGAGGCCGGGCGGCAGCAGCTGGGCTGGCAGGTGGAGGCAGGGGCACAGCAGGAGGGGATGGGCACACAGCAGGTGGACCTGCACAC - het . 37 +line48764 nonsynonymous SNV KRTAP10-3:NM_198696:exon1:c.G509A:p.C170Y, chr21 45978090 45978090 C T het . 17 +line48767 nonsynonymous SNV KRTAP10-6:NM_198688:exon1:c.C898T:p.P300S, chr21 46011468 46011468 G A het . 11 +line48768 stopgain KRTAP10-6:NM_198688:exon1:c.C783A:p.C261X, chr21 46011583 46011583 G T het . 26 +line48769 synonymous SNV KRTAP10-6:NM_198688:exon1:c.G621A:p.S207S, chr21 46011745 46011745 C T het . 15 +line48770 synonymous SNV KRTAP10-6:NM_198688:exon1:c.G615A:p.T205T, chr21 46011751 46011751 C T het . 14 +line48772 synonymous SNV KRTAP10-7:NM_198689:exon1:c.C6T:p.A2A, chr21 46020527 46020527 C T het . 13 +line48773 nonsynonymous SNV KRTAP10-7:NM_198689:exon2:c.A331G:p.M111V, chr21 46020867 46020867 A G het . 4 +line48774 synonymous SNV KRTAP10-7:NM_198689:exon2:c.T834C:p.P278P, chr21 46021370 46021370 T C het . 16 +line48775 nonsynonymous SNV KRTAP10-7:NM_198689:exon2:c.G854C:p.S285T, chr21 46021390 46021390 G C het . 9 +line48776 synonymous SNV KRTAP10-7:NM_198689:exon2:c.A1071G:p.P357P, chr21 46021607 46021607 A G het . 7 +line48778 nonsynonymous SNV KRTAP10-8:NM_198695:exon1:c.A77G:p.H26R, chr21 46032094 46032094 A G het . 24 +line48779 synonymous SNV KRTAP10-9:NM_198690:exon1:c.C330T:p.C110C, chr21 46047418 46047418 C T het . 6 +line48780 nonsynonymous SNV KRTAP10-9:NM_198690:exon1:c.A545G:p.Y182C, chr21 46047633 46047633 A G het . 37 +line48781 synonymous SNV KRTAP10-9:NM_198690:exon1:c.T622C:p.L208L, chr21 46047710 46047710 T C het . 21 +line48782 nonsynonymous SNV KRTAP10-9:NM_198690:exon1:c.C769T:p.R257C, chr21 46047857 46047857 C T het . 31 +line48783 synonymous SNV KRTAP10-9:NM_198690:exon1:c.G837T:p.P279P, chr21 46047925 46047925 G T het . 11 +line48785 nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.T59A:p.V20D, chr21 46057393 46057393 T A het . 9 +line48786 nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.A214C:p.T72P, chr21 46057548 46057548 A C het . 26 +line48787 nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.A256T:p.T86S, chr21 46057590 46057590 A T het . 25 +line48788 nonframeshift deletion KRTAP10-10:NM_181688:exon1:c.279_293del:p.93_98del, chr21 46057613 46057627 CTGCTGTGTGCCTGT - het . 20 +line48789 nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.G472A:p.V158M, chr21 46057806 46057806 G A het . 26 +line48790 nonsynonymous SNV KRTAP10-11:NM_198692:exon1:c.C389T:p.S130F, chr21 46066764 46066764 C T het . 26 +line48791 nonsynonymous SNV KRTAP10-11:NM_198692:exon1:c.C805T:p.R269C, chr21 46067180 46067180 C T het . 26 +line48793 synonymous SNV KRTAP12-4:NM_198698:exon1:c.T330C:p.T110T, chr21 46074202 46074202 A G het . 7 +line48794 nonsynonymous SNV KRTAP12-3:NM_198697:exon1:c.A50G:p.H17R, chr21 46077946 46077946 A G het . 14 +line48797 nonframeshift substitution KRTAP12-2:NM_181684:exon1:c.85_86CG, chr21 46086718 46086719 GA CG het . 23 +line48798 nonframeshift substitution KRTAP12-2:NM_181684:exon1:c.46_47AT, chr21 46086757 46086758 GC AT het . 16 +line48828 nonsynonymous SNV PTTG1IP:NM_001286822:exon3:c.G259A:p.A87T, chr21 46271452 46271452 C T het . 9 +line48829 nonsynonymous SNV PTTG1IP:NM_001286822:exon3:c.A251G:p.E84G, chr21 46271460 46271460 T C het . 9 +line48836 synonymous SNV ITGB2:NM_000211:exon11:c.T1323C:p.V441V,ITGB2:NM_001127491:exon11:c.T1323C:p.V441V,ITGB2:NM_001303238:exon11:c.T1116C:p.V372V, chr21 46311813 46311813 A G het . 22 +line48837 synonymous SNV ITGB2:NM_000211:exon10:c.C1101A:p.V367V,ITGB2:NM_001127491:exon10:c.C1101A:p.V367V,ITGB2:NM_001303238:exon10:c.C894A:p.V298V, chr21 46313442 46313442 G T het . 31 +line48838 nonsynonymous SNV ITGB2:NM_000211:exon9:c.A1062T:p.Q354H,ITGB2:NM_001127491:exon9:c.A1062T:p.Q354H,ITGB2:NM_001303238:exon9:c.A855T:p.Q285H, chr21 46314907 46314907 T A het . 33 +line48840 synonymous SNV ITGB2:NM_000211:exon7:c.G819A:p.G273G,ITGB2:NM_001127491:exon7:c.G819A:p.G273G,ITGB2:NM_001303238:exon7:c.G612A:p.G204G, chr21 46320313 46320313 C T het . 24 +line48846 synonymous SNV ITGB2:NM_000211:exon2:c.G24T:p.L8L,ITGB2:NM_001127491:exon2:c.G24T:p.L8L, chr21 46330674 46330674 C A het . 19 +line48856 nonsynonymous SNV ADARB1:NM_001346687:exon1:c.A49G:p.I17V, chr21 46572572 46572572 A G het . 6 +line48863 nonsynonymous SNV POFUT2:NM_133635:exon3:c.G430A:p.A144T,POFUT2:NM_015227:exon3:c.G430A:p.A144T, chr21 46703395 46703395 C T het . 19 +line48866 synonymous SNV COL18A1:NM_030582:exon1:c.T120C:p.H40H,COL18A1:NM_130444:exon1:c.T120C:p.H40H, chr21 46875564 46875564 T C het . 29 +line48867 synonymous SNV COL18A1:NM_030582:exon1:c.A639G:p.P213P,COL18A1:NM_130444:exon1:c.A639G:p.P213P, chr21 46876083 46876083 A G het . 5 +line48868 synonymous SNV COL18A1:NM_130444:exon1:c.C729T:p.P243P, chr21 46876173 46876173 C T het . 7 +line48869 nonsynonymous SNV COL18A1:NM_130444:exon1:c.G862A:p.A288T, chr21 46876306 46876306 G A het . 4 +line48870 nonsynonymous SNV COL18A1:NM_130444:exon1:c.C1136T:p.T379M, chr21 46876580 46876580 C T het . 8 +line48873 synonymous SNV COL18A1:NM_030582:exon5:c.C1377G:p.P459P,COL18A1:NM_130444:exon5:c.C2082G:p.P694P,COL18A1:NM_130445:exon6:c.C837G:p.P279P, chr21 46896303 46896303 C G het . 30 +line48874 synonymous SNV COL18A1:NM_030582:exon5:c.G1386T:p.T462T,COL18A1:NM_130444:exon5:c.G2091T:p.T697T,COL18A1:NM_130445:exon6:c.G846T:p.T282T, chr21 46896312 46896312 G T het . 34 +line48886 synonymous SNV COL18A1:NM_030582:exon17:c.T2460C:p.L820L,COL18A1:NM_130444:exon17:c.T3165C:p.L1055L,COL18A1:NM_130445:exon18:c.T1920C:p.L640L, chr21 46908355 46908355 T C het . 30 +line48887 nonsynonymous SNV COL18A1:NM_030582:exon18:c.G2464A:p.G822R,COL18A1:NM_130444:exon18:c.G3169A:p.G1057R,COL18A1:NM_130445:exon19:c.G1924A:p.G642R, chr21 46909400 46909400 G A het . 8 +line48902 frameshift deletion COL18A1:NM_030582:exon33:c.3364delG:p.G1122fs,COL18A1:NM_130444:exon33:c.4069delG:p.G1357fs,COL18A1:NM_130445:exon34:c.2824delG:p.G942fs, chr21 46924426 46924434 GGCCCCCCA - het . 13 +line48908 synonymous SNV COL18A1:NM_030582:exon39:c.G3978A:p.A1326A,COL18A1:NM_130444:exon39:c.G4683A:p.A1561A,COL18A1:NM_130445:exon40:c.G3438A:p.A1146A, chr21 46929467 46929467 G A het . 11 +line48917 stopgain SLC19A1:NM_001205206:exon2:c.C153A:p.Y51X,SLC19A1:NM_194255:exon2:c.C153A:p.Y51X,SLC19A1:NM_001352512:exon2:c.C153A:p.Y51X,SLC19A1:NM_001352511:exon2:c.C153A:p.Y51X, chr21 46957721 46957721 G T het . 5 +line48918 nonsynonymous SNV SLC19A1:NM_001205206:exon2:c.G131T:p.G44V,SLC19A1:NM_194255:exon2:c.G131T:p.G44V,SLC19A1:NM_001352512:exon2:c.G131T:p.G44V,SLC19A1:NM_001352511:exon2:c.G131T:p.G44V, chr21 46957743 46957743 C A het . 10 +line48932 nonsynonymous SNV PCBP3:NM_001348243:exon9:c.C360A:p.S120R,PCBP3:NM_001348238:exon9:c.C360A:p.S120R,PCBP3:NM_020528:exon6:c.C360A:p.S120R,PCBP3:NM_001348245:exon7:c.C360A:p.S120R,PCBP3:NM_001348240:exon9:c.C360A:p.S120R,PCBP3:NM_001348239:exon10:c.C360A:p.S120R,PCBP3:NM_001348242:exon10:c.C264A:p.S88R,PCBP3:NM_001348241:exon9:c.C360A:p.S120R,PCBP3:NM_001348244:exon7:c.C360A:p.S120R,PCBP3:NM_001130141:exon6:c.C360A:p.S120R, chr21 47329289 47329289 C A het . 6 +line48933 synonymous SNV PCBP3:NM_001348243:exon9:c.T423C:p.C141C,PCBP3:NM_001348238:exon9:c.T423C:p.C141C,PCBP3:NM_020528:exon6:c.T423C:p.C141C,PCBP3:NM_001348245:exon7:c.T423C:p.C141C,PCBP3:NM_001348240:exon9:c.T423C:p.C141C,PCBP3:NM_001348239:exon10:c.T423C:p.C141C,PCBP3:NM_001348242:exon10:c.T327C:p.C109C,PCBP3:NM_001348241:exon9:c.T423C:p.C141C,PCBP3:NM_001348244:exon7:c.T423C:p.C141C,PCBP3:NM_001130141:exon6:c.T423C:p.C141C, chr21 47329352 47329352 T C het . 14 +line48943 synonymous SNV COL6A1:NM_001848:exon15:c.T1095C:p.G365G, chr21 47410931 47410931 T C het . 27 +line48962 nonsynonymous SNV COL6A2:NM_058174:exon3:c.G316A:p.E106K,COL6A2:NM_001849:exon3:c.G316A:p.E106K,COL6A2:NM_058175:exon3:c.G316A:p.E106K, chr21 47532093 47532093 G A het . 15 +line48968 nonsynonymous SNV COL6A2:NM_058174:exon14:c.G1196A:p.S399N,COL6A2:NM_001849:exon14:c.G1196A:p.S399N,COL6A2:NM_058175:exon14:c.G1196A:p.S399N, chr21 47538960 47538960 G A het . 25 +line48983 nonsynonymous SNV COL6A2:NM_058174:exon26:c.G2039A:p.R680H,COL6A2:NM_001849:exon26:c.G2039A:p.R680H,COL6A2:NM_058175:exon26:c.G2039A:p.R680H, chr21 47545768 47545768 G A het . 11 +line48984 synonymous SNV COL6A2:NM_058174:exon26:c.G2094A:p.A698A,COL6A2:NM_001849:exon26:c.G2094A:p.A698A,COL6A2:NM_058175:exon26:c.G2094A:p.A698A, chr21 47545823 47545823 G A het . 17 +line48985 synonymous SNV COL6A2:NM_058174:exon26:c.C2097T:p.G699G,COL6A2:NM_001849:exon26:c.C2097T:p.G699G,COL6A2:NM_058175:exon26:c.C2097T:p.G699G, chr21 47545826 47545826 C T het . 17 +line48986 synonymous SNV COL6A2:NM_058174:exon26:c.G2184A:p.V728V,COL6A2:NM_001849:exon26:c.G2184A:p.V728V,COL6A2:NM_058175:exon26:c.G2184A:p.V728V, chr21 47545913 47545913 G A het . 21 +line48989 synonymous SNV COL6A2:NM_001849:exon28:c.A2724G:p.T908T, chr21 47552130 47552130 A G het . 39 +line48990 synonymous SNV COL6A2:NM_001849:exon28:c.C2979T:p.R993R, chr21 47552385 47552385 C T het . 10 +line48995 synonymous SNV FTCD:NM_006657:exon12:c.C1392G:p.A464A,FTCD:NM_206965:exon12:c.C1392G:p.A464A,FTCD:NM_001320412:exon12:c.C1392G:p.A464A, chr21 47558473 47558473 G C het . 26 +line48998 nonsynonymous SNV FTCD:NM_006657:exon3:c.G301A:p.V101M,FTCD:NM_206965:exon3:c.G301A:p.V101M,FTCD:NM_001320412:exon3:c.G301A:p.V101M, chr21 47572887 47572887 C T het . 3 +line49003 nonsynonymous SNV LSS:NM_001145436:exon20:c.T1891G:p.L631V,LSS:NM_002340:exon20:c.T1924G:p.L642V,LSS:NM_001145437:exon19:c.T1684G:p.L562V,LSS:NM_001001438:exon20:c.T1924G:p.L642V, chr21 47614469 47614469 A C het . 15 +line49008 synonymous SNV LSS:NM_001145436:exon8:c.G831C:p.P277P,LSS:NM_002340:exon8:c.G864C:p.P288P,LSS:NM_001145437:exon7:c.G624C:p.P208P,LSS:NM_001001438:exon8:c.G864C:p.P288P, chr21 47635627 47635627 C G het . 4 +line49022 synonymous SNV MCM3AP:NM_003906:exon17:c.C3924T:p.S1308S, chr21 47676711 47676711 G A het . 4 +line49026 synonymous SNV MCM3AP:NM_003906:exon11:c.T2931C:p.H977H, chr21 47685939 47685939 A G het . 13 +line49027 synonymous SNV MCM3AP:NM_003906:exon2:c.C1323T:p.N441N, chr21 47703649 47703649 G A het . 33 +line49028 nonsynonymous SNV MCM3AP:NM_003906:exon1:c.C305T:p.S102L, chr21 47704896 47704896 G A het . 13 +line49044 nonsynonymous SNV PCNT:NM_006031:exon13:c.G2111A:p.G704E,PCNT:NM_001315529:exon13:c.G1757A:p.G586E, chr21 47777063 47777063 G A het . 25 +line49046 synonymous SNV PCNT:NM_006031:exon14:c.T2556C:p.A852A,PCNT:NM_001315529:exon14:c.T2202C:p.A734A, chr21 47783796 47783796 T C het . 3 +line49049 synonymous SNV PCNT:NM_006031:exon15:c.C2928G:p.L976L,PCNT:NM_001315529:exon15:c.C2574G:p.L858L, chr21 47786817 47786817 C G het . 30 +line49050 nonsynonymous SNV PCNT:NM_006031:exon15:c.T3113C:p.V1038A,PCNT:NM_001315529:exon15:c.T2759C:p.V920A, chr21 47787002 47787002 T C het . 16 +line49051 synonymous SNV PCNT:NM_006031:exon21:c.C4197T:p.D1399D,PCNT:NM_001315529:exon21:c.C3843T:p.D1281D, chr21 47811272 47811272 C T het . 9 +line49056 nonsynonymous SNV PCNT:NM_006031:exon37:c.G7977C:p.Q2659H,PCNT:NM_001315529:exon37:c.G7623C:p.Q2541H, chr21 47850484 47850484 G C het . 33 +line49058 nonsynonymous SNV PCNT:NM_006031:exon38:c.A8375G:p.Q2792R,PCNT:NM_001315529:exon38:c.A8021G:p.Q2674R, chr21 47851753 47851753 A G het . 31 +line49059 nonsynonymous SNV PCNT:NM_006031:exon38:c.G8707A:p.A2903T, chr21 47852085 47852085 G A het . 28 +line49081 synonymous SNV DIP2A:NM_001353942:exon22:c.C2635T:p.L879L,DIP2A:NM_015151:exon22:c.C2632T:p.L878L,DIP2A:NM_001146116:exon22:c.C2620T:p.L874L,DIP2A:NM_206889:exon22:c.C2632T:p.L878L,DIP2A:NM_001353943:exon22:c.C2632T:p.L878L, chr21 47969793 47969793 C T het . 11 +line49090 synonymous SNV S100B:NM_006272:exon2:c.G99C:p.L33L, chr21 48022230 48022230 C G het . 17 +line49094 synonymous SNV PRMT2:NM_001242865:exon3:c.C69G:p.A23A,PRMT2:NM_001286677:exon3:c.C69G:p.A23A,PRMT2:NM_001242866:exon3:c.C69G:p.A23A,PRMT2:NM_001286678:exon3:c.C69G:p.A23A,PRMT2:NM_001286676:exon3:c.C69G:p.A23A,PRMT2:NM_206962:exon4:c.C69G:p.A23A,PRMT2:NM_001242864:exon3:c.C69G:p.A23A,PRMT2:NM_001535:exon3:c.C69G:p.A23A, chr21 48063476 48063476 C G het . 10 +line49116 synonymous SNV CCT8L2:NM_014406:exon1:c.T375C:p.A125A, chr22 17073066 17073066 A G het . 9 +line49150 synonymous SNV GAB4:NM_001037814:exon6:c.G1287A:p.K429K, chr22 17446991 17446991 C T het . 10 +line49152 synonymous SNV GAB4:NM_001037814:exon3:c.C510T:p.H170H, chr22 17469026 17469026 G A het . 8 +line49153 stopgain GAB4:NM_001037814:exon3:c.G487T:p.G163X, chr22 17469049 17469049 C A het . 8 +line49175 synonymous SNV IL17RA:NM_001289905:exon12:c.G1035A:p.K345K,IL17RA:NM_014339:exon13:c.G1137A:p.K379K, chr22 17589246 17589246 G A het . 7 +line49177 nonsynonymous SNV TMEM121B:NM_001163079:exon2:c.G356T:p.G119V,TMEM121B:NM_031890:exon1:c.G1421T:p.G474V, chr22 17600597 17600597 C A het . 26 +line49178 synonymous SNV TMEM121B:NM_031890:exon1:c.A552G:p.R184R, chr22 17601466 17601466 T C het . 4 +line49188 synonymous SNV HDHD5:NM_017829:exon2:c.G186T:p.G62G,HDHD5:NM_033070:exon2:c.G276T:p.G92G, chr22 17630486 17630486 C A het . 16 +line49198 synonymous SNV ADA2:NM_001282228:exon2:c.C33T:p.N11N,ADA2:NM_001282227:exon2:c.C33T:p.N11N,ADA2:NM_001282226:exon2:c.C159T:p.N53N,ADA2:NM_001282225:exon2:c.C159T:p.N53N, chr22 17690409 17690409 G A het . 22 +line49199 synonymous SNV ADA2:NM_001282228:exon2:c.G12C:p.L4L,ADA2:NM_001282227:exon2:c.G12C:p.L4L,ADA2:NM_001282226:exon2:c.G138C:p.L46L,ADA2:NM_001282225:exon2:c.G138C:p.L46L, chr22 17690430 17690430 C G het . 24 +line49220 nonsynonymous SNV CECR2:NM_001290046:exon15:c.C1472T:p.P491L, chr22 18021604 18021604 C T het . 8 +line49246 nonsynonymous SNV BCL2L13:NM_015367:exon7:c.T1226C:p.L409P,BCL2L13:NM_001270726:exon6:c.T1298C:p.L433P,BCL2L13:NM_001270730:exon5:c.T740C:p.L247P,BCL2L13:NM_001270731:exon6:c.T740C:p.L247P,BCL2L13:NM_001270727:exon5:c.T1154C:p.L385P,BCL2L13:NM_001270729:exon6:c.T740C:p.L247P,BCL2L13:NM_001270733:exon2:c.T386C:p.L129P, chr22 18210068 18210068 T C het . 23 +line49253 synonymous SNV MICAL3:NM_015241:exon30:c.C5740T:p.L1914L, chr22 18273978 18273978 G A het . 11 +line49256 synonymous SNV MICAL3:NM_015241:exon26:c.A5187G:p.L1729L, chr22 18300240 18300240 T C het . 31 +line49257 synonymous SNV MICAL3:NM_015241:exon26:c.C4833T:p.D1611D, chr22 18300594 18300594 G A het . 6 +line49258 synonymous SNV MICAL3:NM_015241:exon26:c.C4548T:p.S1516S, chr22 18300879 18300879 G A het . 37 +line49264 synonymous SNV MICAL3:NM_015241:exon17:c.G2265A:p.P755P,MICAL3:NM_001122731:exon16:c.G2265A:p.P755P,MICAL3:NM_001136004:exon20:c.G2637A:p.P879P, chr22 18354766 18354766 C T het . 10 +line49308 synonymous SNV PRODH:NM_016335:exon15:c.C1741T:p.L581L,PRODH:NM_001195226:exon14:c.C1417T:p.L473L, chr22 18900750 18900750 G A het . 8 +line49309 nonsynonymous SNV PRODH:NM_016335:exon14:c.G1562A:p.R521Q,PRODH:NM_001195226:exon13:c.G1238A:p.R413Q, chr22 18901004 18901004 C T het . 14 +line49311 synonymous SNV PRODH:NM_016335:exon12:c.C1278T:p.D426D,PRODH:NM_001195226:exon11:c.C954T:p.D318D, chr22 18905978 18905978 G A het . 13 +line49321 nonsynonymous SNV PRODH:NM_016335:exon5:c.T553C:p.W185R,PRODH:NM_001195226:exon4:c.T229C:p.W77R, chr22 18912678 18912678 A G het . 25 +line49326 nonsynonymous SNV PRODH:NM_016335:exon2:c.C88T:p.P30S, chr22 18923713 18923713 G A het . 3 +line49335 nonsynonymous SNV DGCR2:NM_005137:exon10:c.T1418C:p.V473A,DGCR2:NM_001184781:exon10:c.T1409C:p.V470A,DGCR2:NM_001173534:exon9:c.T1286C:p.V429A,DGCR2:NM_001173533:exon9:c.T1295C:p.V432A, chr22 19026613 19026613 A G het . 12 +line49357 synonymous SNV TSSK2:NM_053006:exon1:c.C633T:p.C211C, chr22 19119545 19119545 C T het . 12 +line49358 synonymous SNV TSSK2:NM_053006:exon1:c.C774T:p.S258S, chr22 19119686 19119686 C T het . 13 +line49359 nonsynonymous SNV TSSK2:NM_053006:exon1:c.C839T:p.T280M, chr22 19119751 19119751 C T het . 8 +line49360 synonymous SNV TSSK2:NM_053006:exon1:c.G1026A:p.R342R, chr22 19119938 19119938 G A het . 10 +line49361 synonymous SNV ESS2:NM_022719:exon9:c.G1059A:p.E353E, chr22 19122665 19122665 C T het . 7 +line49370 nonsynonymous SNV CLTCL1:NM_001835:exon25:c.A3946G:p.M1316V,CLTCL1:NM_007098:exon25:c.A3946G:p.M1316V, chr22 19184095 19184095 T C het . 20 +line49373 frameshift insertion CLTCL1:NM_001835:exon23:c.3601dupG:p.V1201fs,CLTCL1:NM_007098:exon23:c.3601dupG:p.V1201fs, chr22 19189003 19189003 - C het . 6 +line49374 synonymous SNV CLTCL1:NM_001835:exon21:c.C3372T:p.A1124A,CLTCL1:NM_007098:exon21:c.C3372T:p.A1124A, chr22 19196502 19196502 G A het . 12 +line49375 synonymous SNV CLTCL1:NM_001835:exon20:c.A3189G:p.A1063A,CLTCL1:NM_007098:exon20:c.A3189G:p.A1063A, chr22 19197896 19197896 T C het . 7 +line49380 nonsynonymous SNV CLTCL1:NM_001835:exon6:c.A959G:p.K320R,CLTCL1:NM_007098:exon6:c.A959G:p.K320R, chr22 19223229 19223229 T C het . 6 +line49387 nonsynonymous SNV HIRA:NM_003325:exon21:c.G2470T:p.V824L, chr22 19343374 19343374 C A het . 21 +line49419 unknown UNKNOWN chr22 19868218 19868218 A G het . 12 +line49427 nonsynonymous SNV TXNRD2:NM_001282512:exon3:c.G196T:p.A66S,TXNRD2:NM_001352303:exon3:c.G100T:p.A34S, chr22 19907099 19907099 C A het . 25 +line49428 synonymous SNV TXNRD2:NM_001282512:exon3:c.C177T:p.A59A,TXNRD2:NM_001352303:exon3:c.C81T:p.A27A, chr22 19907118 19907118 G A het . 22 +line49433 synonymous SNV COMT:NM_001135161:exon3:c.C186T:p.H62H,COMT:NM_001362828:exon3:c.C186T:p.H62H,COMT:NM_007310:exon1:c.C36T:p.H12H,COMT:NM_000754:exon3:c.C186T:p.H62H,COMT:NM_001135162:exon3:c.C186T:p.H62H, chr22 19950235 19950235 C T het . 12 +line49434 nonsynonymous SNV COMT:NM_001135161:exon4:c.G472A:p.V158M,COMT:NM_001362828:exon4:c.G472A:p.V158M,COMT:NM_007310:exon2:c.G322A:p.V108M,COMT:NM_000754:exon4:c.G472A:p.V158M,COMT:NM_001135162:exon4:c.G472A:p.V158M, chr22 19951271 19951271 G A het . 30 +line49441 nonsynonymous SNV ARVCF:NM_001670:exon18:c.G2717A:p.R906Q, chr22 19959473 19959473 C T het . 7 +line49444 nonsynonymous SNV ARVCF:NM_001670:exon9:c.G1780A:p.E594K, chr22 19965028 19965028 C T het . 4 +line49452 nonsynonymous SNV RTN4R:NM_023004:exon2:c.A1279G:p.S427G, chr22 20229377 20229377 T C het . 15 +line49467 nonsynonymous SNV ZNF74:NM_001256525:exon5:c.C1230A:p.F410L,ZNF74:NM_003426:exon5:c.C1443A:p.F481L,ZNF74:NM_001256524:exon6:c.C1443A:p.F481L, chr22 20760766 20760766 C A het . 7 +line49470 synonymous SNV SCARF2:NM_153334:exon11:c.G2187C:p.P729P,SCARF2:NM_182895:exon11:c.G2172C:p.P724P, chr22 20780091 20780091 C G het . 7 +line49471 synonymous SNV SCARF2:NM_153334:exon11:c.C2181G:p.R727R,SCARF2:NM_182895:exon11:c.C2166G:p.R722R, chr22 20780097 20780097 G C het . 7 +line49474 nonsynonymous SNV SCARF2:NM_153334:exon7:c.A1273T:p.T425S,SCARF2:NM_182895:exon7:c.A1273T:p.T425S, chr22 20784050 20784050 T A het . 21 +line49476 synonymous SNV KLHL22:NM_032775:exon6:c.T1434C:p.D478D, chr22 20800835 20800835 A G het . 29 +line49498 nonframeshift deletion MED15:NM_001293236:exon5:c.295_297del:p.99_99del,MED15:NM_015889:exon6:c.508_510del:p.170_170del,MED15:NM_001293235:exon6:c.430_432del:p.144_144del,MED15:NM_001003891:exon6:c.508_510del:p.170_170del,MED15:NM_001293234:exon6:c.508_510del:p.170_170del,MED15:NM_001293237:exon6:c.430_432del:p.144_144del, chr22 20918793 20918795 CAG - het . 15 +line49499 nonframeshift deletion MED15:NM_001293236:exon5:c.319_321del:p.107_107del,MED15:NM_015889:exon6:c.532_534del:p.178_178del,MED15:NM_001293235:exon6:c.454_456del:p.152_152del,MED15:NM_001003891:exon6:c.532_534del:p.178_178del,MED15:NM_001293234:exon6:c.532_534del:p.178_178del,MED15:NM_001293237:exon6:c.454_456del:p.152_152del, chr22 20918817 20918819 CAG - het . 14 +line49500 nonframeshift deletion MED15:NM_001293236:exon5:c.399_401del:p.133_134del,MED15:NM_015889:exon6:c.612_614del:p.204_205del,MED15:NM_001293235:exon6:c.534_536del:p.178_179del,MED15:NM_001003891:exon6:c.612_614del:p.204_205del,MED15:NM_001293234:exon6:c.612_614del:p.204_205del,MED15:NM_001293237:exon6:c.534_536del:p.178_179del, chr22 20918897 20918899 GCA - het . 16 +line49504 synonymous SNV MED15:NM_001293236:exon15:c.G1869A:p.P623P,MED15:NM_015889:exon16:c.G2082A:p.P694P,MED15:NM_001293235:exon16:c.G2004A:p.P668P,MED15:NM_001003891:exon17:c.G2202A:p.P734P,MED15:NM_001293234:exon16:c.G2031A:p.P677P,MED15:NM_001293237:exon16:c.G2004A:p.P668P, chr22 20940085 20940085 G A het . 10 +line49517 synonymous SNV PI4KA:NM_001362863:exon49:c.T5721C:p.T1907T,PI4KA:NM_001362862:exon49:c.T5694C:p.T1898T,PI4KA:NM_058004:exon50:c.T5787C:p.T1929T, chr22 21066789 21066789 A G het . 5 +line49528 synonymous SNV SERPIND1:NM_000185:exon5:c.T1446C:p.H482H, chr22 21141300 21141300 T C het . 34 +line49530 synonymous SNV PI4KA:NM_001362863:exon8:c.C864T:p.C288C,PI4KA:NM_001362862:exon8:c.C864T:p.C288C,PI4KA:NM_058004:exon8:c.C864T:p.C288C, chr22 21167787 21167787 G A het . 12 +line49536 synonymous SNV SNAP29:NM_004782:exon1:c.A18G:p.K6K, chr22 21213416 21213416 A G het . 31 +line49542 synonymous SNV AIFM3:NM_001018060:exon11:c.C990T:p.A330A,AIFM3:NM_001146288:exon11:c.C1008T:p.A336A,AIFM3:NM_144704:exon11:c.C990T:p.A330A, chr22 21330787 21330787 C T het . 21 +line49559 synonymous SNV LZTR1:NM_006767:exon15:c.C1683T:p.R561R, chr22 21348914 21348914 C T het . 23 +line49562 nonsynonymous SNV THAP7:NM_030573:exon3:c.G343C:p.A115P,THAP7:NM_001008695:exon4:c.G343C:p.A115P, chr22 21354970 21354970 C G het . 7 +line49575 synonymous SNV P2RX6:NM_001349875:exon4:c.C81A:p.P27P,P2RX6:NM_005446:exon5:c.C534A:p.P178P,P2RX6:NM_001349874:exon4:c.C81A:p.P27P,P2RX6:NM_001159554:exon5:c.C456A:p.P152P,P2RX6:NM_001349876:exon4:c.C81A:p.P27P, chr22 21377301 21377301 C A het . 14 +line49576 nonsynonymous SNV P2RX6:NM_001349875:exon6:c.G272A:p.R91H,P2RX6:NM_005446:exon7:c.G725A:p.R242H,P2RX6:NM_001349874:exon6:c.G272A:p.R91H,P2RX6:NM_001159554:exon7:c.G647A:p.R216H,P2RX6:NM_001349876:exon6:c.G272A:p.R91H, chr22 21377650 21377650 G A het . 11 +line49578 synonymous SNV SLC7A4:NM_004173:exon2:c.C259T:p.L87L, chr22 21385843 21385843 G A het . 8 +line49579 synonymous SNV SLC7A4:NM_004173:exon2:c.G117A:p.T39T, chr22 21385985 21385985 C T het . 13 +line49589 synonymous SNV HIC2:NM_015094:exon3:c.T858C:p.A286A, chr22 21800042 21800042 T C het . 6 +line49590 synonymous SNV HIC2:NM_015094:exon3:c.T1260C:p.H420H, chr22 21800444 21800444 T C het . 6 +line49592 nonsynonymous SNV CCDC116:NM_001331066:exon3:c.G361A:p.G121R,CCDC116:NM_152612:exon3:c.G361A:p.G121R, chr22 21988599 21988599 G A het . 8 +line49614 synonymous SNV MAPK1:NM_002745:exon3:c.A330G:p.T110T,MAPK1:NM_138957:exon3:c.A330G:p.T110T, chr22 22160301 22160301 T C het . 5 +line49667 synonymous SNV ZNF280B:NM_080764:exon4:c.A1518G:p.S506S, chr22 22842206 22842206 T C het . 24 +line49668 nonsynonymous SNV ZNF280B:NM_080764:exon4:c.A767C:p.E256A, chr22 22842957 22842957 T G het . 18 +line49669 synonymous SNV ZNF280B:NM_080764:exon4:c.G606A:p.S202S, chr22 22843118 22843118 C T het . 25 +line49673 nonsynonymous SNV ZNF280A:NM_080740:exon2:c.C1462A:p.R488S, chr22 22868493 22868493 G T het . 19 +line49674 nonsynonymous SNV ZNF280A:NM_080740:exon2:c.C1458G:p.F486L, chr22 22868497 22868497 G C het . 19 +line49675 nonsynonymous SNV ZNF280A:NM_080740:exon2:c.A832G:p.N278D, chr22 22869123 22869123 T C het . 17 +line49676 nonsynonymous SNV ZNF280A:NM_080740:exon2:c.G746C:p.G249A, chr22 22869209 22869209 C G het . 20 +line49677 nonsynonymous SNV ZNF280A:NM_080740:exon2:c.A737G:p.N246S, chr22 22869218 22869218 T C het . 19 +line49678 synonymous SNV ZNF280A:NM_080740:exon2:c.T417C:p.D139D, chr22 22869538 22869538 A G het . 24 +line49679 nonsynonymous SNV ZNF280A:NM_080740:exon2:c.A410C:p.Y137S, chr22 22869545 22869545 T G het . 24 +line49680 nonsynonymous SNV ZNF280A:NM_080740:exon2:c.A407G:p.N136S, chr22 22869548 22869548 T C het . 23 +line49681 synonymous SNV ZNF280A:NM_080740:exon2:c.C306G:p.P102P, chr22 22869649 22869649 G C het . 26 +line49682 nonsynonymous SNV ZNF280A:NM_080740:exon2:c.G213T:p.K71N, chr22 22869742 22869742 C A het . 14 +line49688 nonsynonymous SNV PRAME:NM_206955:exon3:c.T19C:p.W7R,PRAME:NM_206956:exon3:c.T19C:p.W7R,PRAME:NM_006115:exon3:c.T19C:p.W7R,PRAME:NM_206953:exon2:c.T19C:p.W7R,PRAME:NM_001291715:exon2:c.T19C:p.W7R,PRAME:NM_001291716:exon2:c.T19C:p.W7R,PRAME:NM_206954:exon3:c.T19C:p.W7R, chr22 22899234 22899234 A G het . 24 +line49731 synonymous SNV GNAZ:NM_002073:exon2:c.C309T:p.D103D, chr22 23438191 23438191 C T het . 4 +line49734 synonymous SNV RSPH14:NM_014433:exon2:c.T148C:p.L50L, chr22 23482460 23482460 A G het . 24 +line49738 nonsynonymous SNV RAB36:NM_001349878:exon10:c.G853A:p.G285S, chr22 23503121 23503121 G A het . 14 +line49739 synonymous SNV BCR:NM_021574:exon1:c.C483A:p.I161I,BCR:NM_004327:exon1:c.C483A:p.I161I, chr22 23523630 23523630 C A het . 7 +line49740 nonsynonymous SNV BCR:NM_021574:exon1:c.G724A:p.V242I,BCR:NM_004327:exon1:c.G724A:p.V242I, chr22 23523871 23523871 G A het . 5 +line49749 nonsynonymous SNV BCR:NM_021574:exon10:c.A2387G:p.N796S,BCR:NM_004327:exon10:c.A2387G:p.N796S, chr22 23627369 23627369 A G het . 13 +line49751 synonymous SNV BCR:NM_021574:exon13:c.T2700C:p.N900N,BCR:NM_004327:exon13:c.T2700C:p.N900N, chr22 23631801 23631801 T C het . 16 +line49787 nonsynonymous SNV IGLL1:NM_020070:exon3:c.C443T:p.T148I, chr22 23915652 23915652 G A het . 23 +line49799 nonsynonymous SNV RGL4:NM_001329424:exon4:c.C721T:p.H241Y,RGL4:NM_153615:exon4:c.C721T:p.H241Y, chr22 24035970 24035970 C T het . 23 +line49803 synonymous SNV ZNF70:NM_021916:exon2:c.T1221C:p.I407I, chr22 24086107 24086107 A G het . 18 +line49807 synonymous SNV CHCHD10:NM_213720:exon3:c.C312T:p.Y104Y,CHCHD10:NM_001301339:exon3:c.C333T:p.Y111Y, chr22 24108412 24108412 G A het . 8 +line49811 nonsynonymous SNV MMP11:NM_005940:exon2:c.C113T:p.A38V, chr22 24121378 24121378 C T het . 5 +line49824 nonsynonymous SNV DERL3:NM_001135751:exon5:c.C447G:p.F149L,DERL3:NM_198440:exon5:c.C447G:p.F149L,DERL3:NM_001363072:exon5:c.C447G:p.F149L,DERL3:NM_001002862:exon5:c.C447G:p.F149L, chr22 24179922 24179922 G C het . 21 +line49826 nonsynonymous SNV SLC2A11:NM_030807:exon2:c.C28T:p.R10W,SLC2A11:NM_001282864:exon1:c.C28T:p.R10W, chr22 24199704 24199704 C T het . 13 +line49864 nonsynonymous SNV CABIN1:NM_001199281:exon8:c.G673A:p.D225N,CABIN1:NM_012295:exon8:c.G673A:p.D225N, chr22 24447303 24447303 G A het . 32 +line49867 synonymous SNV CABIN1:NM_001201429:exon13:c.T1563C:p.C521C,CABIN1:NM_001199281:exon14:c.T1713C:p.C571C,CABIN1:NM_012295:exon14:c.T1713C:p.C571C, chr22 24459438 24459438 T C het . 43 +line49868 nonsynonymous SNV CABIN1:NM_001201429:exon14:c.A1830C:p.R610S,CABIN1:NM_001199281:exon15:c.A1980C:p.R660S,CABIN1:NM_012295:exon15:c.A1980C:p.R660S, chr22 24460593 24460593 A C het . 43 +line49871 nonsynonymous SNV CABIN1:NM_001201429:exon19:c.C2611G:p.Q871E,CABIN1:NM_001199281:exon20:c.C2761G:p.Q921E,CABIN1:NM_012295:exon20:c.C2761G:p.Q921E, chr22 24479193 24479193 C G het . 12 +line49874 synonymous SNV CABIN1:NM_001201429:exon22:c.G3168A:p.K1056K,CABIN1:NM_001199281:exon23:c.G3318A:p.K1106K,CABIN1:NM_012295:exon23:c.G3318A:p.K1106K, chr22 24483459 24483459 G A het . 17 +line49878 synonymous SNV CABIN1:NM_001201429:exon30:c.G4797A:p.A1599A,CABIN1:NM_001199281:exon31:c.G4947A:p.A1649A,CABIN1:NM_012295:exon31:c.G4947A:p.A1649A, chr22 24561534 24561534 G A het . 22 +line49880 nonsynonymous SNV SUSD2:NM_019601:exon2:c.G101A:p.R34H, chr22 24579049 24579049 G A het . 9 +line49882 synonymous SNV SUSD2:NM_019601:exon6:c.T903C:p.D301D, chr22 24581182 24581182 T C het . 9 +line49889 nonsynonymous SNV GGT5:NM_001302464:exon6:c.A893G:p.K298R,GGT5:NM_001099782:exon6:c.A893G:p.K298R,GGT5:NM_001099781:exon7:c.A989G:p.K330R,GGT5:NM_004121:exon7:c.A989G:p.K330R,GGT5:NM_001302465:exon5:c.A758G:p.K253R, chr22 24622648 24622648 T C het . 16 +line49892 synonymous SNV SPECC1L:NM_001145468:exon4:c.G570A:p.T190T,SPECC1L:NM_001254732:exon4:c.G570A:p.T190T,SPECC1L:NM_015330:exon5:c.G570A:p.T190T, chr22 24717518 24717518 G A het . 44 +line49893 nonsynonymous SNV SPECC1L:NM_001145468:exon4:c.A902G:p.D301G,SPECC1L:NM_001254732:exon4:c.A902G:p.D301G,SPECC1L:NM_015330:exon5:c.A902G:p.D301G, chr22 24717850 24717850 A G het . 42 +line49896 nonsynonymous SNV SPECC1L:NM_001145468:exon12:c.G2851A:p.V951M,SPECC1L:NM_001254732:exon12:c.G2851A:p.V951M,SPECC1L:NM_001254733:exon5:c.G49A:p.V17M,SPECC1L:NM_015330:exon13:c.G2851A:p.V951M, chr22 24761467 24761467 G A het . 33 +line49899 nonsynonymous SNV ADORA2A:NM_000675:exon3:c.G614A:p.R205Q,ADORA2A:NM_001278499:exon3:c.G614A:p.R205Q,ADORA2A:NM_001278500:exon3:c.G614A:p.R205Q,ADORA2A:NM_001278497:exon4:c.G614A:p.R205Q,ADORA2A:NM_001278498:exon3:c.G614A:p.R205Q, chr22 24836832 24836832 G A het . 21 +line49900 synonymous SNV ADORA2A:NM_000675:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278499:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278500:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278497:exon4:c.T1083C:p.Y361Y,ADORA2A:NM_001278498:exon3:c.T1083C:p.Y361Y, chr22 24837301 24837301 T C het . 6 +line49912 synonymous SNV SNRPD3:NM_001278656:exon3:c.T303C:p.A101A,SNRPD3:NM_004175:exon3:c.T303C:p.A101A, chr22 24964128 24964128 T C het . 9 +line49928 synonymous SNV PIWIL3:NM_001008496:exon19:c.T2271G:p.A757A,PIWIL3:NM_001255975:exon19:c.T2244G:p.A748A, chr22 25119210 25119210 A C het . 32 +line49932 nonsynonymous SNV PIWIL3:NM_001008496:exon11:c.G1252A:p.V418M,PIWIL3:NM_001255975:exon11:c.G1252A:p.V418M, chr22 25145453 25145453 C T het . 11 +line49933 nonsynonymous SNV PIWIL3:NM_001008496:exon11:c.T1234C:p.C412R,PIWIL3:NM_001255975:exon11:c.T1234C:p.C412R, chr22 25145471 25145471 A G het . 12 +line49936 stopgain PIWIL3:NM_001008496:exon6:c.G637T:p.E213X,PIWIL3:NM_001255975:exon6:c.G637T:p.E213X, chr22 25151806 25151806 C A het . 38 +line49959 synonymous SNV KIAA1671:NM_001145206:exon8:c.G5097A:p.E1699E, chr22 25577688 25577688 G A het . 16 +line49960 synonymous SNV KIAA1671:NM_001145206:exon8:c.T5142C:p.P1714P, chr22 25577733 25577733 T C het . 17 +line49963 nonsynonymous SNV CRYBB3:NM_004076:exon5:c.C337G:p.H113D, chr22 25601196 25601196 C G het . 20 +line49995 nonsynonymous SNV MYO18B:NM_001318245:exon2:c.C9G:p.I3M,MYO18B:NM_032608:exon2:c.C9G:p.I3M, chr22 26157068 26157068 C G het . 13 +line49999 nonsynonymous SNV MYO18B:NM_001318245:exon3:c.G131A:p.G44E,MYO18B:NM_032608:exon3:c.G131A:p.G44E, chr22 26159289 26159289 G A het . 10 +line50003 nonsynonymous SNV MYO18B:NM_001318245:exon6:c.G1641C:p.W547C,MYO18B:NM_032608:exon6:c.G1641C:p.W547C, chr22 26166900 26166900 G C het . 20 +line50004 nonsynonymous SNV MYO18B:NM_001318245:exon8:c.T1981C:p.W661R,MYO18B:NM_032608:exon8:c.T1981C:p.W661R, chr22 26173661 26173661 T C het . 4 +line50012 synonymous SNV MYO18B:NM_001318245:exon12:c.C2439G:p.L813L,MYO18B:NM_032608:exon12:c.C2439G:p.L813L, chr22 26193982 26193982 C G het . 14 +line50013 synonymous SNV MYO18B:NM_001318245:exon12:c.T2502C:p.G834G,MYO18B:NM_032608:exon12:c.T2502C:p.G834G, chr22 26194045 26194045 T C het . 12 +line50019 synonymous SNV MYO18B:NM_001318245:exon16:c.G3009A:p.P1003P,MYO18B:NM_032608:exon16:c.G3009A:p.P1003P, chr22 26228913 26228913 G A het . 20 +line50021 nonsynonymous SNV MYO18B:NM_001318245:exon18:c.C3360A:p.H1120Q,MYO18B:NM_032608:exon18:c.C3357A:p.H1119Q, chr22 26239850 26239850 C A het . 6 +line50045 nonsynonymous SNV MYO18B:NM_001318245:exon43:c.A7043G:p.Q2348R,MYO18B:NM_032608:exon43:c.A7040G:p.Q2347R, chr22 26422980 26422980 A G het . 9 +line50051 synonymous SNV SEZ6L:NM_001184776:exon2:c.C561T:p.D187D,SEZ6L:NM_001184773:exon2:c.C561T:p.D187D,SEZ6L:NM_001184774:exon2:c.C561T:p.D187D,SEZ6L:NM_001184777:exon2:c.C561T:p.D187D,SEZ6L:NM_021115:exon2:c.C561T:p.D187D,SEZ6L:NM_001184775:exon2:c.C561T:p.D187D, chr22 26688838 26688838 C T het . 10 +line50052 synonymous SNV SEZ6L:NM_001184776:exon2:c.G828A:p.Q276Q,SEZ6L:NM_001184773:exon2:c.G828A:p.Q276Q,SEZ6L:NM_001184774:exon2:c.G828A:p.Q276Q,SEZ6L:NM_001184777:exon2:c.G828A:p.Q276Q,SEZ6L:NM_021115:exon2:c.G828A:p.Q276Q,SEZ6L:NM_001184775:exon2:c.G828A:p.Q276Q, chr22 26689105 26689105 G A het . 6 +line50054 synonymous SNV SEZ6L:NM_001184776:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184773:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184774:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184777:exon6:c.A1419C:p.T473T,SEZ6L:NM_021115:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184775:exon6:c.A1419C:p.T473T, chr22 26702015 26702015 A C het . 20 +line50075 nonsynonymous SNV HPS4:NM_001349904:exon13:c.G1875T:p.Q625H,HPS4:NM_001349896:exon13:c.G1875T:p.Q625H,HPS4:NM_001349898:exon14:c.G1875T:p.Q625H,HPS4:NM_022081:exon13:c.G1875T:p.Q625H,HPS4:NM_001349901:exon14:c.G1929T:p.Q643H,HPS4:NM_001349905:exon13:c.G1875T:p.Q625H,HPS4:NM_001349900:exon14:c.G1929T:p.Q643H,HPS4:NM_152841:exon11:c.G1860T:p.Q620H,HPS4:NM_001349899:exon13:c.G1875T:p.Q625H, chr22 26853905 26853905 C A het . 36 +line50077 nonsynonymous SNV HPS4:NM_001349904:exon12:c.C1816T:p.H606Y,HPS4:NM_001349896:exon12:c.C1816T:p.H606Y,HPS4:NM_001349898:exon13:c.C1816T:p.H606Y,HPS4:NM_022081:exon12:c.C1816T:p.H606Y,HPS4:NM_001349901:exon13:c.C1870T:p.H624Y,HPS4:NM_001349905:exon12:c.C1816T:p.H606Y,HPS4:NM_001349900:exon13:c.C1870T:p.H624Y,HPS4:NM_152841:exon10:c.C1801T:p.H601Y,HPS4:NM_001349899:exon12:c.C1816T:p.H606Y, chr22 26854441 26854441 G A het . 25 +line50080 nonsynonymous SNV HPS4:NM_001349904:exon11:c.G1654A:p.V552M,HPS4:NM_001349903:exon11:c.G1654A:p.V552M,HPS4:NM_001349896:exon11:c.G1654A:p.V552M,HPS4:NM_001349898:exon12:c.G1654A:p.V552M,HPS4:NM_022081:exon11:c.G1654A:p.V552M,HPS4:NM_001349901:exon12:c.G1708A:p.V570M,HPS4:NM_001349902:exon11:c.G1654A:p.V552M,HPS4:NM_001349905:exon11:c.G1654A:p.V552M,HPS4:NM_001349900:exon12:c.G1708A:p.V570M,HPS4:NM_152841:exon9:c.G1639A:p.V547M,HPS4:NM_001349899:exon11:c.G1654A:p.V552M, chr22 26859942 26859942 C T het . 12 +line50081 nonsynonymous SNV HPS4:NM_001349904:exon11:c.C1327G:p.L443V,HPS4:NM_001349903:exon11:c.C1327G:p.L443V,HPS4:NM_001349896:exon11:c.C1327G:p.L443V,HPS4:NM_001349898:exon12:c.C1327G:p.L443V,HPS4:NM_022081:exon11:c.C1327G:p.L443V,HPS4:NM_001349901:exon12:c.C1381G:p.L461V,HPS4:NM_001349902:exon11:c.C1327G:p.L443V,HPS4:NM_001349905:exon11:c.C1327G:p.L443V,HPS4:NM_001349900:exon12:c.C1381G:p.L461V,HPS4:NM_152841:exon9:c.C1312G:p.L438V,HPS4:NM_001349899:exon11:c.C1327G:p.L443V, chr22 26860269 26860269 G C het . 9 +line50083 stopgain HPS4:NM_001349901:exon10:c.C736T:p.R246X,HPS4:NM_001349900:exon10:c.C736T:p.R246X, chr22 26862041 26862041 G A het . 16 +line50085 nonsynonymous SNV HPS4:NM_001349904:exon9:c.A686G:p.E229G,HPS4:NM_001349903:exon9:c.A686G:p.E229G,HPS4:NM_001349896:exon9:c.A686G:p.E229G,HPS4:NM_001349898:exon10:c.A686G:p.E229G,HPS4:NM_022081:exon9:c.A686G:p.E229G,HPS4:NM_001349901:exon9:c.A686G:p.E229G,HPS4:NM_001349902:exon9:c.A686G:p.E229G,HPS4:NM_001349905:exon9:c.A686G:p.E229G,HPS4:NM_001349900:exon9:c.A686G:p.E229G,HPS4:NM_152841:exon7:c.A671G:p.E224G,HPS4:NM_001349899:exon9:c.A686G:p.E229G, chr22 26862212 26862212 T C het . 30 +line50090 nonsynonymous SNV SRRD:NM_001013694:exon3:c.G295A:p.A99T, chr22 26884039 26884039 G A het . 14 +line50091 nonsynonymous SNV SRRD:NM_001013694:exon5:c.C628A:p.R210S, chr22 26886028 26886028 C A het . 13 +line50097 synonymous SNV TFIP11:NM_001346862:exon7:c.C969T:p.H323H,TFIP11:NM_001008697:exon10:c.C1062T:p.H354H,TFIP11:NM_001346857:exon10:c.C1062T:p.H354H,TFIP11:NM_001346859:exon9:c.C1062T:p.H354H,TFIP11:NM_001346861:exon9:c.C1062T:p.H354H,TFIP11:NM_012143:exon9:c.C1062T:p.H354H,TFIP11:NM_001346858:exon10:c.C1062T:p.H354H, chr22 26895337 26895337 G A het . 7 +line50115 synonymous SNV CRYBA4:NM_001886:exon4:c.T171C:p.F57F, chr22 27021457 27021457 T C het . 9 +line50160 nonsynonymous SNV TTC28:NM_001145418:exon23:c.G6967C:p.A2323P, chr22 28378688 28378688 C G het . 8 +line50162 synonymous SNV TTC28:NM_001145418:exon18:c.A5298G:p.T1766T, chr22 28389453 28389453 T C het . 7 +line50165 synonymous SNV TTC28:NM_001145418:exon7:c.C1650T:p.R550R, chr22 28504183 28504183 G A het . 6 +line50166 synonymous SNV TTC28:NM_001145418:exon7:c.T1575C:p.N525N, chr22 28504258 28504258 A G het . 6 +line50208 synonymous SNV XBP1:NM_005080:exon1:c.C207T:p.P69P,XBP1:NM_001079539:exon1:c.C207T:p.P69P, chr22 29196306 29196306 G A het . 9 +line50214 synonymous SNV ZNRF3:NM_001206998:exon1:c.C237T:p.T79T, chr22 29279991 29279991 C T het . 4 +line50223 synonymous SNV ZNRF3:NM_032173:exon8:c.A2142C:p.P714P,ZNRF3:NM_001206998:exon8:c.A2442C:p.P814P, chr22 29446611 29446611 A C het . 13 +line50224 synonymous SNV C22orf31:NM_015370:exon2:c.A102G:p.S34S, chr22 29456733 29456733 T C het . 23 +line50225 synonymous SNV KREMEN1:NM_032045:exon1:c.A12C:p.P4P,KREMEN1:NM_001039570:exon1:c.A12C:p.P4P, chr22 29469130 29469130 A C het . 2 +line50244 unknown UNKNOWN chr22 29707639 29707639 - C het . 6 +line50245 unknown UNKNOWN chr22 29707955 29707955 A T het . 15 +line50248 synonymous SNV AP1B1:NM_001127:exon18:c.G2349A:p.A783A,AP1B1:NM_001166019:exon17:c.G2268A:p.A756A,AP1B1:NM_145730:exon17:c.G2328A:p.A776A, chr22 29727866 29727866 C T het . 3 +line50251 synonymous SNV AP1B1:NM_001127:exon4:c.A204G:p.L68L,AP1B1:NM_001166019:exon4:c.A204G:p.L68L,AP1B1:NM_145730:exon4:c.A204G:p.L68L, chr22 29755888 29755888 T C het . 12 +line50266 nonsynonymous SNV NEFH:NM_021076:exon1:c.C403A:p.Q135K, chr22 29876654 29876654 C A het . 18 +line50267 synonymous SNV NEFH:NM_021076:exon3:c.C1200T:p.A400A, chr22 29881828 29881828 C T het . 23 +line50269 nonsynonymous SNV NEFH:NM_021076:exon4:c.A2414C:p.E805A, chr22 29886043 29886043 A C het . 39 +line50270 synonymous SNV NEFH:NM_021076:exon4:c.A2784G:p.V928V, chr22 29886413 29886413 A G het . 7 +line50293 stopgain UQCR10:NM_013387:exon1:c.C33A:p.Y11X,UQCR10:NM_001003684:exon1:c.C33A:p.Y11X, chr22 30163420 30163420 C A het . 12 +line50294 nonsynonymous SNV UQCR10:NM_013387:exon1:c.A139G:p.I47V,UQCR10:NM_001003684:exon1:c.A139G:p.I47V, chr22 30163526 30163526 A G het . 14 +line50328 synonymous SNV CCDC157:NM_001017437:exon5:c.C633T:p.S211S,CCDC157:NM_001318334:exon5:c.C633T:p.S211S, chr22 30766527 30766527 C T het . 26 +line50331 nonsynonymous SNV CCDC157:NM_001017437:exon10:c.T1759G:p.S587A,CCDC157:NM_001318334:exon10:c.T1759G:p.S587A, chr22 30771554 30771554 T G het . 21 +line50332 synonymous SNV CCDC157:NM_001017437:exon12:c.C2211T:p.G737G,CCDC157:NM_001318334:exon12:c.C2211T:p.G737G, chr22 30772686 30772686 C T het . 12 +line50334 synonymous SNV RNF215:NM_001017981:exon3:c.T471C:p.L157L, chr22 30782089 30782089 A G het . 13 +line50335 nonsynonymous SNV SEC14L2:NM_012429:exon1:c.G32A:p.R11K,SEC14L2:NM_001204204:exon1:c.G32A:p.R11K,SEC14L2:NM_033382:exon1:c.G32A:p.R11K, chr22 30793137 30793137 G A het . 4 +line50345 synonymous SNV MTFP1:NM_016498:exon3:c.T234C:p.T78T, chr22 30823196 30823196 T C het . 19 +line50350 nonsynonymous SNV SEC14L3:NM_001257382:exon12:c.T828G:p.D276E,SEC14L3:NM_001257379:exon12:c.T828G:p.D276E,SEC14L3:NM_174975:exon11:c.T1005G:p.D335E,SEC14L3:NM_001257378:exon13:c.T774G:p.D258E, chr22 30857373 30857373 A C het . 6 +line50351 synonymous SNV SEC14L3:NM_001257382:exon12:c.T753C:p.D251D,SEC14L3:NM_001257379:exon12:c.T753C:p.D251D,SEC14L3:NM_174975:exon11:c.T930C:p.D310D,SEC14L3:NM_001257378:exon13:c.T699C:p.D233D, chr22 30857448 30857448 A G het . 11 +line50352 nonsynonymous SNV SEC14L3:NM_001257382:exon9:c.G464A:p.R155H,SEC14L3:NM_001257379:exon9:c.G464A:p.R155H,SEC14L3:NM_174975:exon8:c.G641A:p.R214H,SEC14L3:NM_001257378:exon10:c.G410A:p.R137H, chr22 30860830 30860830 C T het . 20 +line50358 nonsynonymous SNV SEC14L3:NM_001257382:exon6:c.T131C:p.I44T,SEC14L3:NM_001257379:exon6:c.T131C:p.I44T,SEC14L3:NM_174975:exon5:c.T308C:p.I103T,SEC14L3:NM_001257378:exon7:c.T77C:p.I26T, chr22 30864610 30864610 A G het . 9 +line50359 nonsynonymous SNV SEC14L3:NM_001257382:exon6:c.T86C:p.L29P,SEC14L3:NM_001257379:exon6:c.T86C:p.L29P,SEC14L3:NM_174975:exon5:c.T263C:p.L88P,SEC14L3:NM_001257378:exon7:c.T32C:p.L11P, chr22 30864655 30864655 A G het . 5 +line50369 nonsynonymous SNV SEC14L4:NM_174977:exon8:c.G633C:p.E211D,SEC14L4:NM_001161368:exon8:c.G633C:p.E211D, chr22 30888492 30888492 C G het . 15 +line50371 nonsynonymous SNV SEC14L4:NM_174977:exon1:c.A7G:p.S3G,SEC14L4:NM_001161368:exon1:c.A7G:p.S3G, chr22 30901592 30901592 T C het . 9 +line50377 synonymous SNV SEC14L6:NM_001353441:exon11:c.A885G:p.E295E,SEC14L6:NM_001193336:exon11:c.A1047G:p.E349E, chr22 30921371 30921371 T C het . 8 +line50379 nonsynonymous SNV SEC14L6:NM_001353441:exon6:c.C290G:p.A97G,SEC14L6:NM_001193336:exon6:c.C452G:p.A151G,SEC14L6:NM_001353443:exon6:c.C290G:p.A97G, chr22 30927957 30927957 G C het . 19 +line50380 nonsynonymous SNV SEC14L6:NM_001353441:exon6:c.G272A:p.R91K,SEC14L6:NM_001193336:exon6:c.G434A:p.R145K,SEC14L6:NM_001353443:exon6:c.G272A:p.R91K, chr22 30927975 30927975 C T het . 22 +line50383 nonsynonymous SNV SEC14L6:NM_001193336:exon2:c.A128G:p.Q43R, chr22 30934816 30934816 T C het . 6 +line50384 nonsynonymous SNV SEC14L6:NM_001193336:exon2:c.G59A:p.R20Q, chr22 30934885 30934885 C T het . 8 +line50385 synonymous SNV SEC14L6:NM_001193336:exon2:c.C57T:p.F19F, chr22 30934887 30934887 G A het . 8 +line50394 synonymous SNV GAL3ST1:NM_001318113:exon4:c.C264T:p.S88S,GAL3ST1:NM_001318109:exon3:c.C339T:p.S113S,GAL3ST1:NM_001318107:exon4:c.C267T:p.S89S,GAL3ST1:NM_004861:exon4:c.C264T:p.S88S,GAL3ST1:NM_001318103:exon3:c.C264T:p.S88S,GAL3ST1:NM_001318116:exon5:c.C264T:p.S88S,GAL3ST1:NM_001318108:exon4:c.C264T:p.S88S,GAL3ST1:NM_001318112:exon3:c.C264T:p.S88S,GAL3ST1:NM_001318110:exon4:c.C264T:p.S88S,GAL3ST1:NM_001318115:exon4:c.C264T:p.S88S,GAL3ST1:NM_001318111:exon3:c.C264T:p.S88S,GAL3ST1:NM_001318104:exon4:c.C264T:p.S88S,GAL3ST1:NM_001318114:exon3:c.C267T:p.S89S,GAL3ST1:NM_001318105:exon3:c.C264T:p.S88S,GAL3ST1:NM_001318106:exon4:c.C264T:p.S88S, chr22 30951948 30951948 G A het . 21 +line50395 nonsynonymous SNV GAL3ST1:NM_001318113:exon3:c.G100A:p.V34M,GAL3ST1:NM_001318109:exon2:c.G175A:p.V59M,GAL3ST1:NM_001318107:exon3:c.G100A:p.V34M,GAL3ST1:NM_004861:exon3:c.G100A:p.V34M,GAL3ST1:NM_001318103:exon2:c.G100A:p.V34M,GAL3ST1:NM_001318116:exon4:c.G100A:p.V34M,GAL3ST1:NM_001318108:exon3:c.G100A:p.V34M,GAL3ST1:NM_001318112:exon2:c.G100A:p.V34M,GAL3ST1:NM_001318110:exon3:c.G100A:p.V34M,GAL3ST1:NM_001318115:exon3:c.G100A:p.V34M,GAL3ST1:NM_001318111:exon2:c.G100A:p.V34M,GAL3ST1:NM_001318104:exon3:c.G100A:p.V34M,GAL3ST1:NM_001318114:exon2:c.G100A:p.V34M,GAL3ST1:NM_001318105:exon2:c.G100A:p.V34M,GAL3ST1:NM_001318106:exon3:c.G100A:p.V34M, chr22 30953280 30953280 C T het . 7 +line50402 nonsynonymous SNV TCN2:NM_000355:exon5:c.C643T:p.R215W,TCN2:NM_001184726:exon5:c.C562T:p.R188W, chr22 31011350 31011350 C T het . 16 +line50404 nonsynonymous SNV TCN2:NM_000355:exon6:c.G776C:p.R259P,TCN2:NM_001184726:exon6:c.G695C:p.R232P, chr22 31011610 31011610 G C het . 12 +line50417 synonymous SNV SLC35E4:NM_001318370:exon1:c.G399A:p.L133L,SLC35E4:NM_001001479:exon1:c.G399A:p.L133L,SLC35E4:NM_001318371:exon1:c.G399A:p.L133L, chr22 31032836 31032836 G A het . 15 +line50418 synonymous SNV SLC35E4:NM_001318370:exon1:c.A483G:p.P161P,SLC35E4:NM_001001479:exon1:c.A483G:p.P161P,SLC35E4:NM_001318371:exon1:c.A483G:p.P161P, chr22 31032920 31032920 A G het . 17 +line50422 nonsynonymous SNV SLC35E4:NM_001318371:exon2:c.G646C:p.D216H, chr22 31061506 31061506 G C het . 7 +line50433 synonymous SNV OSBP2:NM_001282741:exon2:c.T210C:p.A70A,OSBP2:NM_001282738:exon4:c.T489C:p.A163A,OSBP2:NM_030758:exon3:c.T984C:p.A328A,OSBP2:NM_001282739:exon3:c.T984C:p.A328A, chr22 31266546 31266546 T C het . 15 +line50439 nonsynonymous SNV PLA2G3:NM_015715:exon1:c.T208G:p.S70A, chr22 31536133 31536133 A C het . 7 +line50443 nonsynonymous SNV LIMK2:NM_005569:exon2:c.G103A:p.G35S, chr22 31621792 31621792 G A het . 12 +line50447 synonymous SNV LIMK2:NM_016733:exon9:c.C1146G:p.L382L,LIMK2:NM_005569:exon10:c.C1209G:p.L403L,LIMK2:NM_001031801:exon9:c.C1146G:p.L382L, chr22 31663842 31663842 C G het . 11 +line50450 nonsynonymous SNV PIK3IP1:NM_052880:exon6:c.C752G:p.T251S, chr22 31679110 31679110 G C het . 19 +line50457 synonymous SNV PATZ1:NM_032052:exon1:c.C522T:p.L174L,PATZ1:NM_014323:exon1:c.C522T:p.L174L,PATZ1:NM_032050:exon1:c.C522T:p.L174L,PATZ1:NM_032051:exon1:c.C522T:p.L174L, chr22 31741067 31741067 G A het . 11 +line50463 synonymous SNV DRG1:NM_004147:exon4:c.A387G:p.K129K, chr22 31807042 31807042 A G het . 23 +line50474 nonsynonymous SNV SFI1:NM_001007467:exon10:c.T964C:p.Y322H,SFI1:NM_001258325:exon9:c.T892C:p.Y298H,SFI1:NM_014775:exon10:c.T964C:p.Y322H,SFI1:NM_001258326:exon8:c.T718C:p.Y240H,SFI1:NM_001258327:exon8:c.T718C:p.Y240H, chr22 31971258 31971258 T C het . 8 +line50476 nonsynonymous SNV SFI1:NM_001007467:exon17:c.G1646A:p.R549Q,SFI1:NM_001258325:exon15:c.G1481A:p.R494Q,SFI1:NM_014775:exon16:c.G1553A:p.R518Q,SFI1:NM_001258326:exon15:c.G1400A:p.R467Q,SFI1:NM_001258327:exon15:c.G1400A:p.R467Q, chr22 31998612 31998612 G A het . 7 +line50477 synonymous SNV SFI1:NM_001007467:exon20:c.G1995A:p.V665V,SFI1:NM_001258325:exon18:c.G1830A:p.V610V,SFI1:NM_014775:exon19:c.G1902A:p.V634V,SFI1:NM_001258326:exon18:c.G1749A:p.V583V,SFI1:NM_001258327:exon18:c.G1749A:p.V583V, chr22 32000872 32000872 G A het . 10 +line50484 synonymous SNV DEPDC5:NM_001007188:exon22:c.A1677C:p.G559G, chr22 32211412 32211412 A C het . 2 +line50487 nonsynonymous SNV C22orf24:NM_001302820:exon1:c.T25G:p.L9V,C22orf24:NM_001302819:exon1:c.T25G:p.L9V, chr22 32334229 32334229 A C het . 12 +line50498 nonsynonymous SNV SLC5A1:NM_000343:exon2:c.A152G:p.N51S, chr22 32445946 32445946 A G het . 28 +line50503 nonsynonymous SNV SLC5A1:NM_001256314:exon10:c.G850A:p.A284T,SLC5A1:NM_000343:exon11:c.G1231A:p.A411T, chr22 32487700 32487700 G A het . 42 +line50504 synonymous SNV SLC5A1:NM_001256314:exon10:c.C894T:p.A298A,SLC5A1:NM_000343:exon11:c.C1275T:p.A425A, chr22 32487744 32487744 C T het . 37 +line50507 synonymous SNV SLC5A1:NM_001256314:exon14:c.A1455G:p.L485L,SLC5A1:NM_000343:exon15:c.A1836G:p.L612L, chr22 32506041 32506041 A G het . 16 +line50508 nonsynonymous SNV SLC5A1:NM_001256314:exon14:c.C1464G:p.H488Q,SLC5A1:NM_000343:exon15:c.C1845G:p.H615Q, chr22 32506050 32506050 C G het . 19 +line50509 synonymous SNV SLC5A1:NM_001256314:exon14:c.C1557T:p.N519N,SLC5A1:NM_000343:exon15:c.C1938T:p.N646N, chr22 32506143 32506143 C T het . 31 +line50512 synonymous SNV C22orf42:NM_001010859:exon8:c.G660A:p.K220K, chr22 32545762 32545762 C T het . 8 +line50515 nonsynonymous SNV C22orf42:NM_001010859:exon1:c.T218C:p.L73P, chr22 32554985 32554985 A G het . 15 +line50516 synonymous SNV C22orf42:NM_001010859:exon1:c.G207A:p.T69T, chr22 32554996 32554996 C T het . 13 +line50524 nonsynonymous SNV RFPL2:NM_001159546:exon4:c.G152A:p.C51Y,RFPL2:NM_001159545:exon3:c.G152A:p.C51Y,RFPL2:NM_001364982:exon5:c.G218A:p.C73Y,RFPL2:NM_001364983:exon5:c.G536A:p.C179Y,RFPL2:NM_001364985:exon3:c.G152A:p.C51Y,RFPL2:NM_006605:exon1:c.G239A:p.C80Y,RFPL2:NM_001364984:exon4:c.G152A:p.C51Y,RFPL2:NM_001098527:exon4:c.G422A:p.C141Y,RFPL2:NM_001364986:exon5:c.G536A:p.C179Y, chr22 32589023 32589023 C T het . 24 +line50525 synonymous SNV RFPL2:NM_001159546:exon4:c.A141G:p.L47L,RFPL2:NM_001159545:exon3:c.A141G:p.L47L,RFPL2:NM_001364982:exon5:c.A207G:p.L69L,RFPL2:NM_001364983:exon5:c.A525G:p.L175L,RFPL2:NM_001364985:exon3:c.A141G:p.L47L,RFPL2:NM_006605:exon1:c.A228G:p.L76L,RFPL2:NM_001364984:exon4:c.A141G:p.L47L,RFPL2:NM_001098527:exon4:c.A411G:p.L137L,RFPL2:NM_001364986:exon5:c.A525G:p.L175L, chr22 32589034 32589034 T C het . 24 +line50526 nonsynonymous SNV RFPL2:NM_001364983:exon4:c.C262T:p.R88C,RFPL2:NM_001098527:exon3:c.C148T:p.R50C,RFPL2:NM_001364986:exon4:c.C262T:p.R88C, chr22 32590449 32590449 G A het . 14 +line50539 synonymous SNV RFPL3:NM_001098535:exon2:c.A879G:p.Q293Q,RFPL3:NM_006604:exon3:c.A792G:p.Q264Q, chr22 32756744 32756744 A G het . 6 +line50543 synonymous SNV RTCB:NM_014306:exon6:c.G603A:p.Q201Q, chr22 32795641 32795641 C T het . 19 +line50545 synonymous SNV RTCB:NM_014306:exon1:c.C66T:p.I22I, chr22 32808078 32808078 G A het . 14 +line50547 nonsynonymous SNV BPIFC:NM_174932:exon15:c.A1436C:p.E479A, chr22 32810378 32810378 T G het . 12 +line50548 nonsynonymous SNV BPIFC:NM_174932:exon14:c.T1351C:p.S451P, chr22 32811952 32811952 A G het . 13 +line50552 nonsynonymous SNV BPIFC:NM_174932:exon8:c.G904C:p.V302L, chr22 32831711 32831711 C G het . 15 +line50555 nonsynonymous SNV FBXO7:NM_001033024:exon1:c.T35G:p.L12R, chr22 32871383 32871383 T G het . 22 +line50557 nonsynonymous SNV FBXO7:NM_012179:exon2:c.G345A:p.M115I,FBXO7:NM_001033024:exon2:c.G108A:p.M36I,FBXO7:NM_001257990:exon2:c.G3A:p.M1I, chr22 32875190 32875190 G A het . 27 +line50561 synonymous SNV FBXO7:NM_012179:exon6:c.C949T:p.L317L,FBXO7:NM_001033024:exon6:c.C712T:p.L238L,FBXO7:NM_001257990:exon6:c.C607T:p.L203L, chr22 32887150 32887150 C T het . 38 +line50660 nonsynonymous SNV ISX:NM_001303508:exon2:c.A82G:p.S28G, chr22 35463162 35463162 A G het . 25 +line50661 synonymous SNV ISX:NM_001303508:exon2:c.T99C:p.I33I, chr22 35463179 35463179 T C het . 28 +line50662 nonsynonymous SNV ISX:NM_001303508:exon2:c.C169T:p.P57S, chr22 35463249 35463249 C T het . 20 +line50681 nonsynonymous SNV HMGXB4:NM_001362972:exon4:c.G167T:p.G56V,HMGXB4:NM_001003681:exon5:c.G494T:p.G165V, chr22 35660875 35660875 G T het . 17 +line50714 nonsynonymous SNV APOL5:NM_030642:exon3:c.C815T:p.T272M, chr22 36122930 36122930 C T het . 30 +line50716 frameshift deletion RBFOX2:NM_001349999:exon4:c.534delA:p.K178fs,RBFOX2:NM_001082576:exon3:c.321delA:p.K107fs,RBFOX2:NM_001349982:exon4:c.387delA:p.K129fs,RBFOX2:NM_001349990:exon4:c.387delA:p.K129fs,RBFOX2:NM_001349994:exon4:c.387delA:p.K129fs,RBFOX2:NM_001349991:exon4:c.387delA:p.K129fs,RBFOX2:NM_001349996:exon4:c.390delA:p.K130fs,RBFOX2:NM_001349995:exon4:c.387delA:p.K129fs,RBFOX2:NM_001082579:exon4:c.531delA:p.K177fs,RBFOX2:NM_001082578:exon4:c.534delA:p.K178fs,RBFOX2:NM_014309:exon3:c.324delA:p.K108fs,RBFOX2:NM_001082577:exon3:c.321delA:p.K107fs,RBFOX2:NM_001349983:exon3:c.321delA:p.K107fs,RBFOX2:NM_001031695:exon3:c.321delA:p.K107fs,RBFOX2:NM_001349998:exon3:c.321delA:p.K107fs,RBFOX2:NM_001349989:exon4:c.387delA:p.K129fs,RBFOX2:NM_001349992:exon4:c.387delA:p.K129fs,RBFOX2:NM_001349997:exon3:c.324delA:p.K108fs, chr22 36177722 36177722 T - het . 24 +line50720 synonymous SNV APOL3:NM_145639:exon4:c.T744A:p.G248G,APOL3:NM_030644:exon5:c.T744A:p.G248G,APOL3:NM_145641:exon5:c.T357A:p.G119G,APOL3:NM_014349:exon4:c.T744A:p.G248G,APOL3:NM_145640:exon3:c.T957A:p.G319G,APOL3:NM_145642:exon4:c.T357A:p.G119G, chr22 36537500 36537500 A T het . 23 +line50721 synonymous SNV APOL3:NM_145639:exon4:c.T351C:p.N117N,APOL3:NM_030644:exon5:c.T351C:p.N117N,APOL3:NM_014349:exon4:c.T351C:p.N117N,APOL3:NM_145640:exon3:c.T564C:p.N188N, chr22 36537893 36537893 A G het . 12 +line50729 nonsynonymous SNV APOL3:NM_145640:exon1:c.C117A:p.S39R, chr22 36556823 36556823 G T het . 29 +line50731 unknown UNKNOWN chr22 36587704 36587704 T C het . 30 +line50732 unknown UNKNOWN chr22 36587886 36587886 C A het . 25 +line50736 nonsynonymous SNV APOL2:NM_145637:exon6:c.A733G:p.I245V,APOL2:NM_030882:exon5:c.A733G:p.I245V, chr22 36623731 36623731 T C het . 10 +line50737 nonsynonymous SNV APOL2:NM_145637:exon6:c.A391T:p.T131S,APOL2:NM_030882:exon5:c.A391T:p.T131S, chr22 36624073 36624073 T A het . 18 +line50738 nonsynonymous SNV APOL2:NM_145637:exon6:c.G233A:p.R78K,APOL2:NM_030882:exon5:c.G233A:p.R78K, chr22 36624231 36624231 C T het . 18 +line50739 nonsynonymous SNV APOL2:NM_145637:exon6:c.C222G:p.D74E,APOL2:NM_030882:exon5:c.C222G:p.D74E, chr22 36624242 36624242 G C het . 13 +line50756 nonsynonymous SNV APOL1:NM_001362927:exon5:c.G394A:p.E132K,APOL1:NM_145343:exon7:c.G496A:p.E166K,APOL1:NM_001136540:exon6:c.G448A:p.E150K,APOL1:NM_003661:exon6:c.G448A:p.E150K,APOL1:NM_001136541:exon5:c.G394A:p.E132K, chr22 36661330 36661330 G A het . 12 +line50757 synonymous SNV APOL1:NM_001362927:exon5:c.C600A:p.A200A,APOL1:NM_145343:exon7:c.C702A:p.A234A,APOL1:NM_001136540:exon6:c.C654A:p.A218A,APOL1:NM_003661:exon6:c.C654A:p.A218A,APOL1:NM_001136541:exon5:c.C600A:p.A200A, chr22 36661536 36661536 C A het . 13 +line50758 nonsynonymous SNV APOL1:NM_001362927:exon5:c.G630A:p.M210I,APOL1:NM_145343:exon7:c.G732A:p.M244I,APOL1:NM_001136540:exon6:c.G684A:p.M228I,APOL1:NM_003661:exon6:c.G684A:p.M228I,APOL1:NM_001136541:exon5:c.G630A:p.M210I, chr22 36661566 36661566 G A het . 6 +line50759 nonsynonymous SNV APOL1:NM_001362927:exon5:c.G710A:p.R237K,APOL1:NM_145343:exon7:c.G812A:p.R271K,APOL1:NM_001136540:exon6:c.G764A:p.R255K,APOL1:NM_003661:exon6:c.G764A:p.R255K,APOL1:NM_001136541:exon5:c.G710A:p.R237K, chr22 36661646 36661646 G A het . 4 +line50760 synonymous SNV APOL1:NM_001362927:exon5:c.G906A:p.R302R,APOL1:NM_145343:exon7:c.G1008A:p.R336R,APOL1:NM_001136540:exon6:c.G960A:p.R320R,APOL1:NM_003661:exon6:c.G960A:p.R320R,APOL1:NM_001136541:exon5:c.G906A:p.R302R, chr22 36661842 36661842 G A het . 14 +line50763 synonymous SNV MYH9:NM_002473:exon26:c.T3429G:p.A1143A, chr22 36691607 36691607 A C het . 34 +line50798 nonsynonymous SNV FOXRED2:NM_024955:exon4:c.A923G:p.N308S,FOXRED2:NM_001102371:exon4:c.A923G:p.N308S, chr22 36900271 36900271 T C het . 29 +line50799 nonsynonymous SNV FOXRED2:NM_024955:exon3:c.T535C:p.F179L,FOXRED2:NM_001102371:exon3:c.T535C:p.F179L,FOXRED2:NM_001363041:exon3:c.T535C:p.F179L,FOXRED2:NM_001363042:exon3:c.T535C:p.F179L, chr22 36900806 36900806 A G het . 17 +line50832 nonsynonymous SNV NCF4:NM_013416:exon8:c.T815C:p.L272P, chr22 37271882 37271882 T C het . 30 +line50839 nonsynonymous SNV CSF2RB:NM_000395:exon8:c.C910A:p.H304N, chr22 37326770 37326770 C A het . 21 +line50843 nonsynonymous SNV CSF2RB:NM_000395:exon14:c.C1807A:p.P603T, chr22 37333657 37333657 C A het . 4 +line50844 synonymous SNV CSF2RB:NM_000395:exon14:c.A1944G:p.P648P, chr22 37333794 37333794 A G het . 7 +line50846 synonymous SNV KCTD17:NM_001282684:exon4:c.C426T:p.H142H,KCTD17:NM_001282686:exon4:c.C426T:p.H142H,KCTD17:NM_024681:exon4:c.C426T:p.H142H,KCTD17:NM_001282685:exon4:c.C426T:p.H142H, chr22 37453452 37453452 C T het . 11 +line50847 synonymous SNV TMPRSS6:NM_153609:exon17:c.C2217T:p.Y739Y,TMPRSS6:NM_001289000:exon18:c.C2256T:p.Y752Y,TMPRSS6:NM_001289001:exon17:c.C2190T:p.Y730Y, chr22 37462926 37462926 G A het . 30 +line50848 nonsynonymous SNV TMPRSS6:NM_153609:exon17:c.T2207C:p.V736A,TMPRSS6:NM_001289000:exon18:c.T2246C:p.V749A,TMPRSS6:NM_001289001:exon17:c.T2180C:p.V727A, chr22 37462936 37462936 A G het . 28 +line50850 nonsynonymous SNV TMPRSS6:NM_153609:exon16:c.G2071T:p.A691S,TMPRSS6:NM_001289000:exon16:c.G2044T:p.A682S,TMPRSS6:NM_001289001:exon16:c.G2044T:p.A682S, chr22 37465182 37465182 C A het . 13 +line50851 synonymous SNV TMPRSS6:NM_153609:exon13:c.C1563T:p.D521D,TMPRSS6:NM_001289000:exon13:c.C1536T:p.D512D,TMPRSS6:NM_001289001:exon13:c.C1536T:p.D512D, chr22 37469591 37469591 G A het . 13 +line50857 synonymous SNV TMPRSS6:NM_153609:exon9:c.G1083A:p.S361S,TMPRSS6:NM_001289000:exon9:c.G1056A:p.S352S,TMPRSS6:NM_001289001:exon9:c.G1056A:p.S352S, chr22 37480797 37480797 C T het . 14 +line50860 nonsynonymous SNV TMPRSS6:NM_153609:exon7:c.A757G:p.K253E,TMPRSS6:NM_001289000:exon7:c.A730G:p.K244E,TMPRSS6:NM_001289001:exon7:c.A730G:p.K244E, chr22 37485724 37485724 T C het . 25 +line50870 synonymous SNV IL2RB:NM_000878:exon8:c.C750T:p.G250G,IL2RB:NM_001346223:exon8:c.C750T:p.G250G,IL2RB:NM_001346222:exon8:c.C750T:p.G250G, chr22 37531436 37531436 G A het . 11 +line50876 nonsynonymous SNV C1QTNF6:NM_031910:exon2:c.C125G:p.P42R,C1QTNF6:NM_182486:exon2:c.C125G:p.P42R, chr22 37581422 37581422 G C het . 5 +line50877 nonsynonymous SNV C1QTNF6:NM_031910:exon2:c.G62T:p.G21V,C1QTNF6:NM_182486:exon2:c.G62T:p.G21V, chr22 37581485 37581485 C A het . 2 +line50888 synonymous SNV CYTH4:NM_013385:exon8:c.T630C:p.F210F,CYTH4:NM_001318024:exon8:c.T459C:p.F153F, chr22 37699377 37699377 T C het . 12 +line50892 synonymous SNV ELFN2:NM_052906:exon3:c.C1509A:p.I503I, chr22 37770066 37770066 G T het . 6 +line50893 synonymous SNV ELFN2:NM_052906:exon3:c.T1218C:p.F406F, chr22 37770357 37770357 A G het . 13 +line50894 synonymous SNV ELFN2:NM_052906:exon3:c.C945T:p.I315I, chr22 37770630 37770630 G A het . 9 +line50895 synonymous SNV ELFN2:NM_052906:exon3:c.C417T:p.I139I, chr22 37771158 37771158 G A het . 19 +line50901 synonymous SNV CDC42EP1:NM_152243:exon3:c.C648G:p.L216L, chr22 37964299 37964299 C G het . 10 +line50913 nonsynonymous SNV SH3BP1:NM_001350055:exon18:c.C1760T:p.A587V, chr22 38051999 38051999 C T het . 26 +line50922 nonsynonymous SNV TRIOBP:NM_001039141:exon7:c.A1186G:p.T396A, chr22 38119749 38119749 A G het . 30 +line50923 nonsynonymous SNV TRIOBP:NM_001039141:exon7:c.A3899G:p.H1300R, chr22 38122462 38122462 A G het . 2 +line50925 nonsynonymous SNV TRIOBP:NM_001039141:exon9:c.G4116T:p.E1372D, chr22 38130459 38130459 G T het . 17 +line50926 nonsynonymous SNV TRIOBP:NM_001039141:exon9:c.T4129C:p.W1377R, chr22 38130472 38130472 T C het . 18 +line50930 synonymous SNV TRIOBP:NM_001039141:exon19:c.C6498T:p.Y2166Y,TRIOBP:NM_007032:exon9:c.C1359T:p.Y453Y, chr22 38164106 38164106 C T het . 29 +line50937 nonsynonymous SNV GCAT:NM_001171690:exon2:c.T230C:p.L77S, chr22 38205989 38205989 T C het . 15 +line50938 synonymous SNV EIF3L:NM_001363785:exon10:c.T852C:p.I284I,EIF3L:NM_016091:exon11:c.T1146C:p.I382I,EIF3L:NM_001242923:exon9:c.T1002C:p.I334I, chr22 38273749 38273749 T C het . 18 +line50948 nonsynonymous SNV SLC16A8:NM_013356:exon5:c.T1214C:p.V405A, chr22 38474696 38474696 A G het . 8 +line50949 nonsynonymous SNV SLC16A8:NM_013356:exon4:c.A703T:p.R235W, chr22 38477342 38477342 T A het . 7 +line50950 synonymous SNV SLC16A8:NM_013356:exon3:c.C324T:p.L108L, chr22 38477930 38477930 G A het . 14 +line50953 synonymous SNV BAIAP2L2:NM_025045:exon1:c.T24C:p.F8F, chr22 38506509 38506509 A G het . 5 +line50974 synonymous SNV KCNJ4:NM_152868:exon2:c.A1002G:p.S334S,KCNJ4:NM_004981:exon2:c.A1002G:p.S334S, chr22 38823136 38823136 T C het . 20 +line50978 nonsynonymous SNV KDELR3:NM_016657:exon4:c.T596G:p.V199G,KDELR3:NM_006855:exon4:c.T596G:p.V199G, chr22 38877461 38877461 T G het . 13 +line51007 synonymous SNV CBY1:NM_001002880:exon6:c.T450C:p.A150A,CBY1:NM_015373:exon5:c.T321C:p.A107A, chr22 39069181 39069181 T C het . 28 +line51018 nonsynonymous SNV GTPBP1:NM_004286:exon4:c.C524A:p.T175K, chr22 39112695 39112695 C A het . 11 +line51022 synonymous SNV SUN2:NM_015374:exon16:c.A1824G:p.Q608Q,SUN2:NM_001199579:exon16:c.A1887G:p.Q629Q,SUN2:NM_001199580:exon17:c.A1824G:p.Q608Q, chr22 39134715 39134715 T C het . 9 +line51029 synonymous SNV DNAL4:NM_005740:exon2:c.T36C:p.D12D, chr22 39178701 39178701 A G het . 6 +line51030 synonymous SNV NPTXR:NM_014293:exon3:c.C951T:p.Y317Y, chr22 39222652 39222652 G A het . 13 +line51041 nonsynonymous SNV APOBEC3B:NM_001270411:exon3:c.A184G:p.K62E,APOBEC3B:NM_004900:exon3:c.A184G:p.K62E, chr22 39381826 39381826 A G het . 6 +line51042 nonsynonymous SNV APOBEC3B:NM_001270411:exon3:c.C437A:p.T146K,APOBEC3B:NM_004900:exon3:c.C437A:p.T146K, chr22 39382079 39382079 C A het . 4 +line51051 nonsynonymous SNV APOBEC3D:NM_152426:exon3:c.C281A:p.A94D, chr22 39421145 39421145 C A het . 7 +line51052 synonymous SNV APOBEC3F:NM_145298:exon3:c.C429T:p.R143R, chr22 39441203 39441203 C T het . 9 +line51054 nonsynonymous SNV APOBEC3F:NM_145298:exon5:c.G691A:p.V231I, chr22 39445554 39445554 G A het . 21 +line51058 nonsynonymous SNV APOBEC3G:NM_021822:exon6:c.C823G:p.Q275E,APOBEC3G:NM_001349436:exon6:c.C790G:p.Q264E,APOBEC3G:NM_001349437:exon5:c.C622G:p.Q208E, chr22 39482371 39482371 C G het . 14 +line51061 synonymous SNV APOBEC3H:NM_001166003:exon2:c.G129C:p.T43T,APOBEC3H:NM_001166004:exon2:c.G129C:p.T43T,APOBEC3H:NM_001166002:exon2:c.G129C:p.T43T,APOBEC3H:NM_181773:exon2:c.G129C:p.T43T, chr22 39496412 39496412 G C het . 22 +line51062 nonsynonymous SNV APOBEC3H:NM_001166003:exon3:c.G313C:p.G105R,APOBEC3H:NM_001166004:exon3:c.G313C:p.G105R,APOBEC3H:NM_001166002:exon3:c.G313C:p.G105R,APOBEC3H:NM_181773:exon3:c.G313C:p.G105R, chr22 39497404 39497404 G C het . 22 +line51063 nonsynonymous SNV APOBEC3H:NM_001166003:exon3:c.A361G:p.K121E,APOBEC3H:NM_001166004:exon3:c.A361G:p.K121E,APOBEC3H:NM_001166002:exon3:c.A361G:p.K121E,APOBEC3H:NM_181773:exon3:c.A361G:p.K121E, chr22 39497452 39497452 A G het . 13 +line51064 nonsynonymous SNV APOBEC3H:NM_001166003:exon3:c.G363C:p.K121N,APOBEC3H:NM_001166004:exon3:c.G363C:p.K121N,APOBEC3H:NM_001166002:exon3:c.G363C:p.K121N,APOBEC3H:NM_181773:exon3:c.G363C:p.K121N, chr22 39497454 39497454 G C het . 13 +line51067 nonsynonymous SNV APOBEC3H:NM_001166003:exon4:c.G534C:p.E178D,APOBEC3H:NM_001166002:exon4:c.G534C:p.E178D,APOBEC3H:NM_181773:exon4:c.G534C:p.E178D, chr22 39498038 39498038 G C het . 14 +line51104 nonframeshift insertion SYNGR1:NM_004711:exon4:c.605_606insCAA:p.P202delinsPN, chr22 39777822 39777822 - CAA het . 20 +line51114 nonsynonymous SNV ATF4:NM_182810:exon2:c.A65C:p.Q22P,ATF4:NM_001675:exon1:c.A65C:p.Q22P, chr22 39917515 39917515 A C het . 4 +line51120 synonymous SNV CACNA1I:NM_021096:exon12:c.T2157C:p.I719I,CACNA1I:NM_001003406:exon11:c.T2052C:p.I684I, chr22 40054948 40054948 T C het . 12 +line51122 synonymous SNV CACNA1I:NM_021096:exon16:c.T2859C:p.S953S,CACNA1I:NM_001003406:exon15:c.T2754C:p.S918S, chr22 40057273 40057273 T C het . 7 +line51126 nonsynonymous SNV GRAP2:NM_001291824:exon6:c.A574C:p.T192P,GRAP2:NM_001291825:exon5:c.A574C:p.T192P,GRAP2:NM_001291826:exon5:c.A358C:p.T120P,GRAP2:NM_004810:exon6:c.A574C:p.T192P,GRAP2:NM_001291828:exon3:c.A235C:p.T79P, chr22 40364160 40364160 A C het . 19 +line51127 nonsynonymous SNV GRAP2:NM_001291824:exon6:c.T578G:p.L193R,GRAP2:NM_001291825:exon5:c.T578G:p.L193R,GRAP2:NM_001291826:exon5:c.T362G:p.L121R,GRAP2:NM_004810:exon6:c.T578G:p.L193R,GRAP2:NM_001291828:exon3:c.T239G:p.L80R, chr22 40364164 40364164 T G het . 15 +line51129 synonymous SNV FAM83F:NM_138435:exon4:c.C1266T:p.N422N, chr22 40417780 40417780 C T het . 36 +line51137 nonsynonymous SNV TNRC6B:NM_001162501:exon5:c.G2395T:p.D799Y,TNRC6B:NM_015088:exon5:c.G2395T:p.D799Y, chr22 40662629 40662629 G T het . 5 +line51150 nonsynonymous SNV MRTFA:NM_001282660:exon10:c.C2149T:p.P717S,MRTFA:NM_001282661:exon12:c.C1999T:p.P667S,MRTFA:NM_001282662:exon13:c.C2149T:p.P717S,MRTFA:NM_020831:exon13:c.C2149T:p.P717S,MRTFA:NM_001318139:exon11:c.C2254T:p.P752S, chr22 40813413 40813413 G A het . 15 +line51156 nonsynonymous SNV MCHR1:NM_005297:exon1:c.A94G:p.N32D, chr22 41075543 41075543 A G het . 24 +line51157 synonymous SNV MCHR1:NM_005297:exon1:c.C246T:p.N82N, chr22 41075695 41075695 C T het . 24 +line51166 nonsynonymous SNV DNAJB7:NM_145174:exon1:c.C433A:p.P145T, chr22 41257566 41257566 G T het . 24 +line51189 synonymous SNV EP300:NM_001429:exon17:c.T3183A:p.T1061T,EP300:NM_001362843:exon16:c.T3105A:p.T1035T, chr22 41551039 41551039 T A het . 46 +line51197 nonsynonymous SNV EP300:NM_001429:exon31:c.A6962C:p.Q2321P,EP300:NM_001362843:exon30:c.A6884C:p.Q2295P, chr22 41574677 41574677 A C het . 7 +line51204 synonymous SNV L3MBTL2:NM_031488:exon3:c.G390A:p.R130R, chr22 41610024 41610024 G A het . 9 +line51211 synonymous SNV RANGAP1:NM_002883:exon14:c.G1548C:p.L516L,RANGAP1:NM_001317930:exon14:c.G1548C:p.L516L,RANGAP1:NM_001278651:exon15:c.G1548C:p.L516L, chr22 41645757 41645757 C G het . 17 +line51212 synonymous SNV RANGAP1:NM_002883:exon11:c.G1170A:p.E390E,RANGAP1:NM_001317930:exon11:c.G1170A:p.E390E,RANGAP1:NM_001278651:exon12:c.G1170A:p.E390E, chr22 41650402 41650402 C T het . 13 +line51224 synonymous SNV TOB2:NM_016272:exon2:c.G234A:p.A78A, chr22 41833116 41833116 C T het . 25 +line51237 nonsynonymous SNV C22orf46:NM_001142964:exon2:c.T373C:p.W125R, chr22 42089623 42089623 T C het . 3 +line51242 synonymous SNV MEI1:NM_152513:exon19:c.G2172T:p.S724S, chr22 42159229 42159229 G T het . 15 +line51248 nonframeshift deletion SREBF2:NM_004599:exon2:c.203_205del:p.68_69del, chr22 42262949 42262951 GCA - het . 36 +line51249 nonsynonymous SNV SREBF2:NM_004599:exon10:c.G1784C:p.G595A, chr22 42276742 42276742 G C het . 21 +line51253 nonsynonymous SNV SREBF2:NM_004599:exon14:c.G2580C:p.R860S, chr22 42293140 42293140 G C het . 13 +line51254 synonymous SNV SREBF2:NM_004599:exon18:c.C3175A:p.R1059R, chr22 42300948 42300948 C A het . 15 +line51260 nonsynonymous SNV TNFRSF13C:NM_052945:exon1:c.C62G:p.P21R, chr22 42322716 42322716 G C het . 6 +line51262 stopgain CENPM:NM_001110215:exon1:c.C7T:p.R3X, chr22 42336172 42336172 G A het . 10 +line51263 nonsynonymous SNV CENPM:NM_001304372:exon3:c.T214C:p.S72P, chr22 42341308 42341308 A G het . 20 +line51264 synonymous SNV CENPM:NM_001304372:exon3:c.C159T:p.S53S, chr22 42341363 42341363 G A het . 14 +line51265 synonymous SNV CENPM:NM_024053:exon3:c.T213C:p.N71N,CENPM:NM_001304370:exon2:c.T111C:p.N37N,CENPM:NM_001002876:exon3:c.T213C:p.N71N,CENPM:NM_001304371:exon3:c.T213C:p.N71N,CENPM:NM_001304372:exon2:c.T111C:p.N37N,CENPM:NM_001304373:exon2:c.T111C:p.N37N, chr22 42341934 42341934 A G het . 10 +line51275 nonsynonymous SNV WBP2NL:NM_152613:exon4:c.A362G:p.D121G, chr22 42416056 42416056 A G het . 19 +line51277 nonsynonymous SNV WBP2NL:NM_152613:exon6:c.G855C:p.Q285H, chr22 42423110 42423110 G C het . 19 +line51283 synonymous SNV NAGA:NM_001362850:exon4:c.G279A:p.P93P,NAGA:NM_000262:exon3:c.G279A:p.P93P,NAGA:NM_001362848:exon4:c.G279A:p.P93P, chr22 42463814 42463814 C T het . 6 +line51285 synonymous SNV PHETA2:NM_001002034:exon3:c.C306T:p.A102A, chr22 42473603 42473603 C T het . 14 +line51286 nonsynonymous SNV NDUFA6:NM_002490:exon1:c.C26T:p.A9V, chr22 42486723 42486723 G A het . 35 +line51291 nonsynonymous SNV CYP2D6:NM_000106:exon6:c.T886C:p.C296R,CYP2D6:NM_001025161:exon5:c.T733C:p.C245R, chr22 42523943 42523943 A G het . 14 +line51292 synonymous SNV CYP2D6:NM_000106:exon4:c.T657C:p.F219F,CYP2D6:NM_001025161:exon3:c.T504C:p.F168F, chr22 42524795 42524795 A G het . 20 +line51293 nonframeshift substitution CYP2D6:NM_000106:exon4:c.637_638TC,CYP2D6:NM_001025161:exon3:c.484_485TC, chr22 42524814 42524815 AG GA het . 17 +line51294 frameshift insertion CYP2D6:NM_000106:exon4:c.631dupG:p.E211fs,CYP2D6:NM_001025161:exon3:c.478dupG:p.E160fs, chr22 42524820 42524820 - C het . 14 +line51301 unknown UNKNOWN chr22 42537271 42537271 T C het . 10 +line51302 unknown UNKNOWN chr22 42537404 42537404 G C het . 12 +line51303 unknown UNKNOWN chr22 42537597 42537597 A G het . 15 +line51305 unknown UNKNOWN chr22 42538876 42538876 A T het . 8 +line51309 synonymous SNV TCF20:NM_181492:exon1:c.G5055A:p.S1685S,TCF20:NM_005650:exon2:c.G5055A:p.S1685S, chr22 42606257 42606257 C T het . 6 +line51315 synonymous SNV CYB5R3:NM_000398:exon2:c.G132A:p.P44P,CYB5R3:NM_001171660:exon2:c.G231A:p.P77P,CYB5R3:NM_007326:exon2:c.G63A:p.P21P,CYB5R3:NM_001129819:exon2:c.G63A:p.P21P,CYB5R3:NM_001171661:exon3:c.G63A:p.P21P, chr22 43032742 43032742 C T het . 28 +line51316 nonsynonymous SNV CYB5R3:NM_000398:exon2:c.G109A:p.E37K,CYB5R3:NM_001171660:exon2:c.G208A:p.E70K,CYB5R3:NM_007326:exon2:c.G40A:p.E14K,CYB5R3:NM_001129819:exon2:c.G40A:p.E14K,CYB5R3:NM_001171661:exon3:c.G40A:p.E14K, chr22 43032765 43032765 C T het . 35 +line51321 synonymous SNV A4GALT:NM_017436:exon3:c.G987A:p.T329T,A4GALT:NM_001318038:exon3:c.G987A:p.T329T, chr22 43088971 43088971 C T het . 14 +line51322 synonymous SNV A4GALT:NM_017436:exon3:c.C903G:p.P301P,A4GALT:NM_001318038:exon3:c.C903G:p.P301P, chr22 43089055 43089055 G C het . 11 +line51323 nonsynonymous SNV A4GALT:NM_017436:exon3:c.A109G:p.M37V,A4GALT:NM_001318038:exon3:c.A109G:p.M37V, chr22 43089849 43089849 T C het . 13 +line51344 synonymous SNV ARFGAP3:NM_014570:exon15:c.T1431C:p.S477S,ARFGAP3:NM_001142293:exon14:c.T1299C:p.S433S, chr22 43195147 43195147 A G het . 10 +line51345 synonymous SNV ARFGAP3:NM_014570:exon14:c.G1353A:p.S451S,ARFGAP3:NM_001142293:exon13:c.G1221A:p.S407S, chr22 43203137 43203137 C T het . 22 +line51346 nonsynonymous SNV ARFGAP3:NM_014570:exon12:c.T1065G:p.S355R,ARFGAP3:NM_001142293:exon11:c.T933G:p.S311R, chr22 43206950 43206950 A C het . 21 +line51354 synonymous SNV PACSIN2:NM_001349968:exon7:c.G876A:p.P292P,PACSIN2:NM_001349969:exon7:c.G876A:p.P292P,PACSIN2:NM_001349974:exon6:c.G753A:p.P251P,PACSIN2:NM_001349971:exon7:c.G876A:p.P292P,PACSIN2:NM_001349973:exon7:c.G876A:p.P292P,PACSIN2:NM_007229:exon7:c.G876A:p.P292P,PACSIN2:NM_001184971:exon7:c.G876A:p.P292P,PACSIN2:NM_001349972:exon7:c.G876A:p.P292P,PACSIN2:NM_001349970:exon7:c.G876A:p.P292P,PACSIN2:NM_001184970:exon7:c.G876A:p.P292P, chr22 43278220 43278220 C T het . 10 +line51355 synonymous SNV PACSIN2:NM_001349968:exon3:c.C207T:p.L69L,PACSIN2:NM_001349969:exon3:c.C207T:p.L69L,PACSIN2:NM_001349974:exon2:c.C84T:p.L28L,PACSIN2:NM_001349971:exon3:c.C207T:p.L69L,PACSIN2:NM_001349973:exon3:c.C207T:p.L69L,PACSIN2:NM_007229:exon3:c.C207T:p.L69L,PACSIN2:NM_001184971:exon3:c.C207T:p.L69L,PACSIN2:NM_001349972:exon3:c.C207T:p.L69L,PACSIN2:NM_001349970:exon3:c.C207T:p.L69L,PACSIN2:NM_001184970:exon3:c.C207T:p.L69L, chr22 43289473 43289473 G A het . 11 +line51363 synonymous SNV TTLL1:NM_012263:exon11:c.G1242A:p.S414S, chr22 43435812 43435812 C T het . 9 +line51368 synonymous SNV TTLL1:NM_012263:exon7:c.C702T:p.D234D, chr22 43459864 43459864 G A het . 14 +line51370 synonymous SNV TTLL1:NM_012263:exon4:c.T150C:p.V50V, chr22 43465814 43465814 A G het . 19 +line51379 nonsynonymous SNV MCAT:NM_173467:exon4:c.C908T:p.A303V, chr22 43529314 43529314 G A het . 25 +line51384 nonsynonymous SNV TSPO:NM_001256531:exon4:c.A439G:p.T147A,TSPO:NM_000714:exon4:c.A439G:p.T147A,TSPO:NM_001256530:exon4:c.A439G:p.T147A, chr22 43558926 43558926 A G het . 15 +line51385 nonsynonymous SNV TSPO:NM_001256531:exon4:c.G485A:p.R162H,TSPO:NM_000714:exon4:c.G485A:p.R162H,TSPO:NM_001256530:exon4:c.G485A:p.R162H, chr22 43558972 43558972 G A het . 20 +line51389 synonymous SNV TTLL12:NM_015140:exon3:c.C390T:p.H130H, chr22 43576904 43576904 G A het . 9 +line51390 synonymous SNV SCUBE1:NM_173050:exon19:c.G2487A:p.A829A, chr22 43606143 43606143 C T het . 5 +line51393 nonsynonymous SNV SCUBE1:NM_173050:exon10:c.G1192C:p.G398R, chr22 43623395 43623395 C G het . 13 +line51407 synonymous SNV MPPED1:NM_001044370:exon3:c.C267T:p.Y89Y,MPPED1:NM_001362786:exon3:c.C267T:p.Y89Y, chr22 43830996 43830996 C T het . 11 +line51408 synonymous SNV MPPED1:NM_001044370:exon3:c.C327T:p.Y109Y,MPPED1:NM_001362786:exon3:c.C327T:p.Y109Y, chr22 43831056 43831056 C T het . 14 +line51414 nonsynonymous SNV EFCAB6:NM_198856:exon23:c.C2720T:p.A907V,EFCAB6:NM_022785:exon25:c.C3176T:p.A1059V, chr22 43976396 43976396 G A het . 17 +line51421 nonsynonymous SNV EFCAB6:NM_198856:exon9:c.A595G:p.T199A,EFCAB6:NM_022785:exon11:c.A1051G:p.T351A, chr22 44083442 44083442 T C het . 15 +line51425 synonymous SNV EFCAB6:NM_198856:exon7:c.G309A:p.S103S,EFCAB6:NM_022785:exon9:c.G765A:p.S255S, chr22 44112845 44112845 C T het . 14 +line51429 nonsynonymous SNV EFCAB6:NM_022785:exon3:c.G53A:p.R18Q, chr22 44178146 44178146 C T het . 24 +line51440 synonymous SNV PNPLA3:NM_025225:exon4:c.C561T:p.F187F, chr22 44328832 44328832 C T het . 26 +line51443 nonsynonymous SNV PNPLA3:NM_025225:exon9:c.A1300G:p.K434E, chr22 44342116 44342116 A G het . 22 +line51448 synonymous SNV SAMM50:NM_015380:exon5:c.A411G:p.G137G, chr22 44368204 44368204 A G het . 9 +line51451 synonymous SNV SAMM50:NM_015380:exon12:c.T1017C:p.L339L, chr22 44379822 44379822 T C het . 3 +line51452 nonsynonymous SNV SAMM50:NM_015380:exon12:c.A1033G:p.I345V, chr22 44379838 44379838 A G het . 4 +line51453 nonsynonymous SNV PARVB:NM_001003828:exon2:c.T109C:p.W37R, chr22 44395451 44395451 T C het . 19 +line51460 nonsynonymous SNV PARVB:NM_001243386:exon2:c.T17C:p.V6A,PARVB:NM_001243385:exon2:c.T62C:p.V21A,PARVB:NM_013327:exon2:c.T173C:p.V58A,PARVB:NM_001003828:exon3:c.T272C:p.V91A, chr22 44489868 44489868 T C het . 17 +line51461 synonymous SNV PARVB:NM_001243386:exon2:c.T45C:p.L15L,PARVB:NM_001243385:exon2:c.T90C:p.L30L,PARVB:NM_013327:exon2:c.T201C:p.L67L,PARVB:NM_001003828:exon3:c.T300C:p.L100L, chr22 44489896 44489896 T C het . 11 +line51474 synonymous SNV PARVG:NM_022141:exon7:c.C480T:p.V160V,PARVG:NM_001137605:exon7:c.C480T:p.V160V, chr22 44586522 44586522 C T het . 11 +line51476 synonymous SNV PARVG:NM_022141:exon12:c.C795G:p.P265P,PARVG:NM_001137605:exon12:c.C795G:p.P265P, chr22 44594584 44594584 C G het . 18 +line51477 synonymous SNV PARVG:NM_022141:exon14:c.A919C:p.R307R,PARVG:NM_001137605:exon14:c.A919C:p.R307R, chr22 44602229 44602229 A C het . 10 +line51484 synonymous SNV SHISAL1:NM_001099294:exon4:c.T295C:p.L99L, chr22 44681612 44681612 A G het . 10 +line51503 nonsynonymous SNV PRR5:NM_001198721:exon2:c.T59C:p.M20T, chr22 45075738 45075738 T C het . 11 +line51507 synonymous SNV PRR5:NM_001017528:exon7:c.T489C:p.R163R,PRR5:NM_001017529:exon6:c.T231C:p.R77R,PRR5:NM_001017530:exon6:c.T231C:p.R77R,PRR5:NM_015366:exon7:c.T489C:p.R163R,PRR5:NM_001198721:exon8:c.T585C:p.R195R,PRR5:NM_181333:exon6:c.T516C:p.R172R, chr22 45128232 45128232 T C het . 15 +line51515 synonymous SNV ARHGAP8:NM_181335:exon3:c.A132G:p.P44P,PRR5-ARHGAP8:NM_181334:exon6:c.A525G:p.P175P,ARHGAP8:NM_001017526:exon3:c.A132G:p.P44P,ARHGAP8:NM_001198726:exon3:c.A132G:p.P44P, chr22 45198009 45198009 A G het . 18 +line51524 synonymous SNV ARHGAP8:NM_181335:exon10:c.C867T:p.L289L,PRR5-ARHGAP8:NM_181334:exon13:c.C1260T:p.L420L,ARHGAP8:NM_001017526:exon11:c.C960T:p.L320L,ARHGAP8:NM_001198726:exon10:c.C867T:p.L289L, chr22 45244930 45244930 C T het . 8 +line51555 nonsynonymous SNV KIAA0930:NM_001009880:exon6:c.T602G:p.V201G,KIAA0930:NM_015264:exon6:c.T617G:p.V206G, chr22 45599781 45599781 A C het . 8 +line51577 synonymous SNV UPK3A:NM_006953:exon3:c.C402T:p.V134V, chr22 45683246 45683246 C T het . 13 +line51578 nonsynonymous SNV UPK3A:NM_006953:exon3:c.G460C:p.A154P, chr22 45683304 45683304 G C het . 13 +line51580 synonymous SNV UPK3A:NM_006953:exon6:c.A858G:p.Q286Q,UPK3A:NM_001167574:exon4:c.A495G:p.Q165Q, chr22 45691594 45691594 A G het . 9 +line51584 nonsynonymous SNV FAM118A:NM_001349914:exon4:c.G388C:p.V130L,FAM118A:NM_017911:exon4:c.G385C:p.V129L,FAM118A:NM_001349916:exon6:c.G427C:p.V143L,FAM118A:NM_001104595:exon5:c.G385C:p.V129L,FAM118A:NM_001349913:exon4:c.G385C:p.V129L, chr22 45723807 45723807 G C het . 34 +line51585 synonymous SNV FAM118A:NM_001349914:exon4:c.G423A:p.R141R,FAM118A:NM_017911:exon4:c.G420A:p.R140R,FAM118A:NM_001349916:exon6:c.G462A:p.R154R,FAM118A:NM_001104595:exon5:c.G420A:p.R140R,FAM118A:NM_001349913:exon4:c.G420A:p.R140R, chr22 45723842 45723842 G A het . 33 +line51586 synonymous SNV FAM118A:NM_001349914:exon4:c.C435G:p.V145V,FAM118A:NM_017911:exon4:c.C432G:p.V144V,FAM118A:NM_001349916:exon6:c.C474G:p.V158V,FAM118A:NM_001104595:exon5:c.C432G:p.V144V,FAM118A:NM_001349913:exon4:c.C432G:p.V144V, chr22 45723854 45723854 C G het . 35 +line51589 nonsynonymous SNV FAM118A:NM_001349914:exon6:c.G719A:p.R240H,FAM118A:NM_017911:exon6:c.G716A:p.R239H,FAM118A:NM_001349916:exon8:c.G758A:p.R253H,FAM118A:NM_001104595:exon7:c.G716A:p.R239H,FAM118A:NM_001349913:exon6:c.G716A:p.R239H,FAM118A:NM_001349915:exon5:c.G494A:p.R165H, chr22 45728370 45728370 G A het . 13 +line51598 nonsynonymous SNV SMC1B:NM_148674:exon21:c.C3148A:p.L1050M,SMC1B:NM_001291501:exon21:c.C3148A:p.L1050M, chr22 45749983 45749983 G T het . 8 +line51603 nonsynonymous SNV SMC1B:NM_148674:exon14:c.G2273A:p.R758Q,SMC1B:NM_001291501:exon14:c.G2273A:p.R758Q, chr22 45767391 45767391 C T het . 14 +line51604 synonymous SNV SMC1B:NM_148674:exon14:c.T2209C:p.L737L,SMC1B:NM_001291501:exon14:c.T2209C:p.L737L, chr22 45767455 45767455 A G het . 9 +line51610 synonymous SNV SMC1B:NM_148674:exon11:c.A1755G:p.L585L,SMC1B:NM_001291501:exon11:c.A1755G:p.L585L, chr22 45782903 45782903 T C het . 22 +line51611 nonsynonymous SNV SMC1B:NM_148674:exon10:c.G1729T:p.D577Y,SMC1B:NM_001291501:exon10:c.G1729T:p.D577Y, chr22 45785594 45785594 C A het . 11 +line51613 nonsynonymous SNV SMC1B:NM_148674:exon9:c.T1417G:p.F473V,SMC1B:NM_001291501:exon9:c.T1417G:p.F473V, chr22 45789642 45789642 A C het . 39 +line51618 unknown UNKNOWN chr22 45810278 45810278 - C het . 20 +line51620 unknown UNKNOWN chr22 45821887 45821887 G A het . 29 +line51621 unknown UNKNOWN chr22 45821956 45821956 C G het . 39 +line51622 unknown UNKNOWN chr22 45826880 45826880 G A het . 8 +line51633 nonsynonymous SNV FBLN1:NM_006487:exon4:c.A422G:p.Q141R,FBLN1:NM_006486:exon4:c.A422G:p.Q141R,FBLN1:NM_006485:exon4:c.A422G:p.Q141R,FBLN1:NM_001996:exon4:c.A422G:p.Q141R, chr22 45923827 45923827 A G het . 26 +line51634 synonymous SNV FBLN1:NM_006487:exon4:c.G483A:p.T161T,FBLN1:NM_006486:exon4:c.G483A:p.T161T,FBLN1:NM_006485:exon4:c.G483A:p.T161T,FBLN1:NM_001996:exon4:c.G483A:p.T161T, chr22 45923888 45923888 G A het . 22 +line51655 nonsynonymous SNV PRR34:NM_018280:exon1:c.C83G:p.P28R, chr22 46449891 46449891 G C het . 2 +line51656 stopgain PKDREJ:NM_006071:exon1:c.G5806T:p.E1936X, chr22 46653414 46653414 C A het . 20 +line51657 nonsynonymous SNV TTC38:NM_017931:exon7:c.T727C:p.F243L, chr22 46677607 46677607 T C het . 12 +line51658 nonframeshift substitution GTSE1:NM_016426:exon5:c.827_828AA, chr22 46708102 46708103 GG AA het . 15 +line51659 nonsynonymous SNV GTSE1:NM_016426:exon9:c.T1573C:p.W525R, chr22 46722400 46722400 T C het . 11 +line51664 nonsynonymous SNV CELSR1:NM_014246:exon20:c.A6802G:p.T2268A, chr22 46780521 46780521 T C het . 16 +line51665 nonsynonymous SNV CELSR1:NM_014246:exon19:c.G6656A:p.R2219H, chr22 46782382 46782382 C T het . 9 +line51667 nonsynonymous SNV CELSR1:NM_014246:exon17:c.A6319G:p.I2107V, chr22 46786315 46786315 T C het . 12 +line51668 nonsynonymous SNV CELSR1:NM_014246:exon15:c.T5984C:p.L1995P, chr22 46787694 46787694 A G het . 9 +line51669 nonsynonymous SNV CELSR1:NM_014246:exon15:c.T5981C:p.L1994P, chr22 46787697 46787697 A G het . 9 +line51673 synonymous SNV CELSR1:NM_014246:exon2:c.C3699G:p.A1233A, chr22 46860088 46860088 G C het . 20 +line51674 synonymous SNV CELSR1:NM_014246:exon2:c.G3564A:p.T1188T, chr22 46860223 46860223 C T het . 6 +line51682 nonsynonymous SNV CELSR1:NM_014246:exon1:c.T3376C:p.C1126R, chr22 46929692 46929692 A G het . 12 +line51683 nonsynonymous SNV CELSR1:NM_014246:exon1:c.C1991G:p.S664W, chr22 46931077 46931077 G C het . 8 +line51684 synonymous SNV CELSR1:NM_014246:exon1:c.C1275G:p.L425L, chr22 46931793 46931793 G C het . 2 +line51685 synonymous SNV CELSR1:NM_014246:exon1:c.C1230T:p.S410S, chr22 46931838 46931838 G A het . 5 +line51695 synonymous SNV GRAMD4:NM_015124:exon6:c.T522C:p.F174F, chr22 47058992 47058992 T C het . 11 +line51702 synonymous SNV CERK:NM_022766:exon11:c.C1131T:p.D377D, chr22 47087670 47087670 G A het . 10 +line51807 synonymous SNV ZBED4:NM_014838:exon2:c.T525C:p.S175S, chr22 50277835 50277835 T C het . 3 +line51808 synonymous SNV ZBED4:NM_014838:exon2:c.A573G:p.P191P, chr22 50277883 50277883 A G het . 4 +line51809 nonsynonymous SNV ZBED4:NM_014838:exon2:c.A1258G:p.I420V, chr22 50278568 50278568 A G het . 6 +line51810 synonymous SNV ZBED4:NM_014838:exon2:c.C1332T:p.G444G, chr22 50278642 50278642 C T het . 10 +line51811 synonymous SNV ZBED4:NM_014838:exon2:c.T2826C:p.A942A, chr22 50280136 50280136 T C het . 3 +line51813 synonymous SNV ALG12:NM_024105:exon6:c.G669T:p.L223L, chr22 50302991 50302991 C A het . 37 +line51814 synonymous SNV PIM3:NM_001001852:exon2:c.C132A:p.A44A, chr22 50354819 50354819 C A het . 11 +line51816 nonsynonymous SNV PIM3:NM_001001852:exon6:c.T899C:p.V300A, chr22 50356693 50356693 T C het . 14 +line51818 nonsynonymous SNV TTLL8:NM_001350317:exon9:c.G880A:p.E294K, chr22 50480108 50480108 C T het . 9 +line51830 nonsynonymous SNV MOV10L1:NM_018995:exon3:c.G391A:p.A131T,MOV10L1:NM_001164104:exon3:c.G391A:p.A131T,MOV10L1:NM_001164105:exon3:c.G331A:p.A111T, chr22 50537980 50537980 G A het . 10 +line51831 synonymous SNV MOV10L1:NM_018995:exon5:c.A717G:p.A239A,MOV10L1:NM_001164104:exon5:c.A717G:p.A239A,MOV10L1:NM_001164105:exon5:c.A657G:p.A219A, chr22 50547247 50547247 A G het . 3 +line51834 synonymous SNV MOV10L1:NM_018995:exon9:c.C1293T:p.L431L,MOV10L1:NM_001164104:exon9:c.C1293T:p.L431L,MOV10L1:NM_001164105:exon9:c.C1233T:p.L411L, chr22 50555619 50555619 C T het . 13 +line51835 nonsynonymous SNV MOV10L1:NM_018995:exon9:c.A1360C:p.I454L,MOV10L1:NM_001164104:exon9:c.A1360C:p.I454L,MOV10L1:NM_001164105:exon9:c.A1300C:p.I434L, chr22 50555686 50555686 A C het . 26 +line51841 nonsynonymous SNV MOV10L1:NM_018995:exon18:c.A2459G:p.Q820R,MOV10L1:NM_001164104:exon18:c.A2459G:p.Q820R,MOV10L1:NM_001164105:exon18:c.A2399G:p.Q800R, chr22 50582626 50582626 A G het . 10 +line51844 synonymous SNV MOV10L1:NM_001164106:exon3:c.C141A:p.G47G,MOV10L1:NM_018995:exon21:c.C2760A:p.G920G,MOV10L1:NM_001164104:exon21:c.C2760A:p.G920G,MOV10L1:NM_001164105:exon21:c.C2700A:p.G900G, chr22 50589196 50589196 C A het . 18 +line51846 synonymous SNV PANX2:NM_001160300:exon2:c.T1515C:p.P505P,PANX2:NM_052839:exon2:c.T1515C:p.P505P, chr22 50616656 50616656 T C het . 4 +line51851 unknown UNKNOWN chr22 50639528 50639528 T C het . 3 +line51852 unknown UNKNOWN chr22 50639965 50639965 C A het . 5 +line51855 nonsynonymous SNV TUBGCP6:NM_020461:exon22:c.G4861C:p.V1621L, chr22 50657010 50657010 C G het . 11 +line51857 nonsynonymous SNV TUBGCP6:NM_020461:exon9:c.T1700C:p.L567S, chr22 50664612 50664612 A G het . 9 +line51863 synonymous SNV TUBGCP6:NM_020461:exon1:c.G309A:p.P103P, chr22 50682580 50682580 C T het . 21 +line51866 nonsynonymous SNV HDAC10:NM_001159286:exon17:c.A1697G:p.Q566R,HDAC10:NM_032019:exon18:c.A1757G:p.Q586R, chr22 50684415 50684415 T C het . 7 +line51867 nonsynonymous SNV HDAC10:NM_001159286:exon16:c.G1570A:p.V524I,HDAC10:NM_032019:exon17:c.G1630A:p.V544I, chr22 50684747 50684747 C T het . 8 +line51869 synonymous SNV HDAC10:NM_001159286:exon10:c.C918T:p.A306A,HDAC10:NM_032019:exon11:c.C978T:p.A326A, chr22 50686830 50686830 G A het . 6 +line51870 synonymous SNV HDAC10:NM_001159286:exon9:c.G759A:p.G253G,HDAC10:NM_032019:exon10:c.G819A:p.G273G, chr22 50687178 50687178 C T het . 7 +line51873 synonymous SNV HDAC10:NM_001159286:exon8:c.T693C:p.V231V,HDAC10:NM_032019:exon8:c.T693C:p.V231V, chr22 50687595 50687595 A G het . 19 +line51877 synonymous SNV HDAC10:NM_001159286:exon5:c.T435C:p.C145C,HDAC10:NM_032019:exon5:c.T435C:p.C145C, chr22 50688348 50688348 A G het . 9 +line51880 nonsynonymous SNV MAPK12:NM_002969:exon12:c.G1064A:p.R355Q,MAPK12:NM_001303252:exon11:c.G1034A:p.R345Q, chr22 50691870 50691870 C T het . 18 +line51881 synonymous SNV MAPK12:NM_002969:exon10:c.C843T:p.S281S,MAPK12:NM_001303252:exon9:c.C813T:p.S271S, chr22 50693889 50693889 G A het . 12 +line51882 synonymous SNV MAPK12:NM_002969:exon8:c.T633C:p.S211S,MAPK12:NM_001303252:exon7:c.T603C:p.S201S, chr22 50694297 50694297 A G het . 4 +line51883 synonymous SNV MAPK12:NM_002969:exon5:c.C450T:p.I150I, chr22 50695370 50695370 G A het . 2 +line51885 synonymous SNV MAPK12:NM_002969:exon2:c.T183C:p.P61P,MAPK12:NM_001303252:exon2:c.T183C:p.P61P, chr22 50699668 50699668 A G het . 13 +line51886 synonymous SNV MAPK11:NM_002751:exon9:c.A756G:p.S252S, chr22 50704661 50704661 T C het . 11 +line51887 synonymous SNV MAPK11:NM_002751:exon7:c.T507C:p.F169F, chr22 50705466 50705466 A G het . 6 +line51894 synonymous SNV PLXNB2:NM_012401:exon24:c.T3915C:p.P1305P, chr22 50719251 50719251 A G het . 20 +line51896 nonsynonymous SNV PLXNB2:NM_012401:exon15:c.A2434G:p.T812A, chr22 50722167 50722167 T C het . 9 +line51897 nonsynonymous SNV PLXNB2:NM_012401:exon14:c.A2275G:p.N759D, chr22 50722408 50722408 T C het . 2 +line51900 nonsynonymous SNV PLXNB2:NM_012401:exon3:c.A952G:p.K318E, chr22 50728062 50728062 T C het . 27 +line51906 synonymous SNV DENND6B:NM_001001794:exon17:c.C1356G:p.P452P, chr22 50751529 50751529 G C het . 7 +line51907 nonsynonymous SNV DENND6B:NM_001001794:exon15:c.G1207A:p.V403M, chr22 50752150 50752150 C T het . 12 +line51909 synonymous SNV DENND6B:NM_001001794:exon10:c.C775T:p.L259L, chr22 50753334 50753334 G A het . 6 +line51911 synonymous SNV DENND6B:NM_001001794:exon8:c.G690A:p.Q230Q, chr22 50754466 50754466 C T het . 11 +line51912 synonymous SNV DENND6B:NM_001001794:exon7:c.A594G:p.A198A, chr22 50754648 50754648 T C het . 14 +line51913 synonymous SNV DENND6B:NM_001001794:exon5:c.C393T:p.F131F, chr22 50755782 50755782 G A het . 30 +line51924 synonymous SNV PPP6R2:NM_001351647:exon19:c.G1617C:p.A539A,PPP6R2:NM_001242900:exon18:c.G2022C:p.A674A,PPP6R2:NM_001351648:exon18:c.G1536C:p.A512A,PPP6R2:NM_001351644:exon18:c.G2022C:p.A674A,PPP6R2:NM_001351645:exon19:c.G2022C:p.A674A,PPP6R2:NM_014678:exon18:c.G2022C:p.A674A,PPP6R2:NM_001351646:exon18:c.G2019C:p.A673A,PPP6R2:NM_001242898:exon19:c.G2103C:p.A701A,PPP6R2:NM_001351642:exon19:c.G2103C:p.A701A,PPP6R2:NM_001242899:exon18:c.G2025C:p.A675A,PPP6R2:NM_001351643:exon20:c.G2103C:p.A701A,PPP6R2:NM_001351641:exon19:c.G2106C:p.A702A, chr22 50877166 50877166 G C het . 2 +line51927 synonymous SNV SBF1:NM_002972:exon40:c.T5559C:p.T1853T, chr22 50885775 50885775 A G het . 5 +line51931 synonymous SNV LMF2:NM_033200:exon6:c.C891T:p.H297H,LMF2:NM_001363816:exon6:c.C816T:p.H272H, chr22 50944128 50944128 G A het . 5 +line51935 synonymous SNV SCO2:NM_001169110:exon2:c.C763A:p.R255R,SCO2:NM_001169109:exon2:c.C763A:p.R255R,SCO2:NM_005138:exon2:c.C763A:p.R255R,SCO2:NM_001169111:exon2:c.C763A:p.R255R, chr22 50962078 50962078 G T het . 15 +line51936 synonymous SNV SCO2:NM_001169110:exon2:c.A633C:p.A211A,SCO2:NM_001169109:exon2:c.A633C:p.A211A,SCO2:NM_005138:exon2:c.A633C:p.A211A,SCO2:NM_001169111:exon2:c.A633C:p.A211A, chr22 50962208 50962208 T G het . 17 +line51937 nonsynonymous SNV SCO2:NM_001169110:exon2:c.G59C:p.R20P,SCO2:NM_001169109:exon2:c.G59C:p.R20P,SCO2:NM_005138:exon2:c.G59C:p.R20P,SCO2:NM_001169111:exon2:c.G59C:p.R20P, chr22 50962782 50962782 C G het . 23 +line51940 nonsynonymous SNV TYMP:NM_001953:exon10:c.C1412T:p.S471L,TYMP:NM_001113756:exon9:c.C1412T:p.S471L,TYMP:NM_001257989:exon10:c.C1427T:p.S476L,TYMP:NM_001113755:exon10:c.C1412T:p.S471L,TYMP:NM_001257988:exon10:c.C1412T:p.S471L, chr22 50964236 50964236 G A het . 30 +line51941 nonsynonymous SNV TYMP:NM_001953:exon10:c.G1393A:p.A465T,TYMP:NM_001113756:exon9:c.G1393A:p.A465T,TYMP:NM_001257989:exon10:c.G1408A:p.A470T,TYMP:NM_001113755:exon10:c.G1393A:p.A465T,TYMP:NM_001257988:exon10:c.G1393A:p.A465T, chr22 50964255 50964255 C T het . 22 +line51942 synonymous SNV TYMP:NM_001953:exon8:c.C972T:p.A324A,TYMP:NM_001113756:exon7:c.C972T:p.A324A,TYMP:NM_001257989:exon8:c.C972T:p.A324A,TYMP:NM_001113755:exon8:c.C972T:p.A324A,TYMP:NM_001257988:exon8:c.C972T:p.A324A, chr22 50964862 50964862 G A het . 5 +line51946 synonymous SNV KLHDC7B:NM_138433:exon1:c.T1203C:p.A401A, chr22 50985875 50985875 T C het . 2 +line51947 nonsynonymous SNV KLHDC7B:NM_138433:exon1:c.A2615G:p.Q872R, chr22 50987287 50987287 A G het . 4 +line51948 nonsynonymous SNV KLHDC7B:NM_138433:exon1:c.A3521G:p.H1174R, chr22 50988193 50988193 A G het . 5 +line51951 synonymous SNV CPT1B:NM_001145134:exon10:c.C1206T:p.L402L,CPT1B:NM_001145135:exon11:c.C1308T:p.L436L,CPT1B:NM_001145137:exon10:c.C1308T:p.L436L,CPT1B:NM_004377:exon11:c.C1308T:p.L436L,CPT1B:NM_152245:exon11:c.C1308T:p.L436L,CPT1B:NM_152246:exon11:c.C1308T:p.L436L, chr22 51011348 51011348 G A het . 19 +line51952 nonsynonymous SNV CPT1B:NM_001145134:exon10:c.C1178G:p.S393C,CPT1B:NM_001145135:exon11:c.C1280G:p.S427C,CPT1B:NM_001145137:exon10:c.C1280G:p.S427C,CPT1B:NM_004377:exon11:c.C1280G:p.S427C,CPT1B:NM_152245:exon11:c.C1280G:p.S427C,CPT1B:NM_152246:exon11:c.C1280G:p.S427C, chr22 51011376 51011376 G C het . 27 +line51961 unknown UNKNOWN chr22 51041663 51041663 C A het . 17 +line51962 unknown UNKNOWN chr22 51042484 51042484 C T het . 5 +line51963 unknown UNKNOWN chr22 51042513 51042513 - G het . 11 +line51967 nonsynonymous SNV ARSA:NM_001085426:exon8:c.C1178G:p.T393S,ARSA:NM_001362782:exon7:c.C920G:p.T307S,ARSA:NM_001085425:exon8:c.C1178G:p.T393S,ARSA:NM_001085427:exon8:c.C1178G:p.T393S,ARSA:NM_001085428:exon7:c.C920G:p.T307S,ARSA:NM_000487:exon7:c.C1178G:p.T393S, chr22 51064039 51064039 G C het . 18 +line51973 nonsynonymous SNV SHANK3:NM_033517:exon2:c.C240A:p.N80K, chr22 51113652 51113652 C A het . 16 +line51981 synonymous SNV ACR:NM_001097:exon5:c.C720T:p.S240S, chr22 51183089 51183089 C T het . 3 +line51986 nonsynonymous SNV XG:NM_001141919:exon8:c.T392C:p.L131P, chrX 2724760 2724760 T C het . 11 +line51997 nonsynonymous SNV GYG2:NM_001184702:exon7:c.C716T:p.A239V,GYG2:NM_001079855:exon7:c.C716T:p.A239V,GYG2:NM_001184704:exon6:c.C251T:p.A84V,GYG2:NM_001184703:exon8:c.C809T:p.A270V,GYG2:NM_003918:exon8:c.C809T:p.A270V, chrX 2777985 2777985 C T het . 16 +line51999 nonsynonymous SNV GYG2:NM_001184702:exon8:c.A845G:p.H282R,GYG2:NM_001079855:exon8:c.A845G:p.H282R,GYG2:NM_001184704:exon7:c.A380G:p.H127R,GYG2:NM_001184703:exon9:c.A938G:p.H313R,GYG2:NM_003918:exon9:c.A938G:p.H313R, chrX 2779570 2779570 A G het . 9 +line52000 nonsynonymous SNV GYG2:NM_001184702:exon8:c.C1024T:p.R342C,GYG2:NM_001079855:exon8:c.C1024T:p.R342C,GYG2:NM_001184704:exon7:c.C559T:p.R187C,GYG2:NM_001184703:exon9:c.C1117T:p.R373C,GYG2:NM_003918:exon9:c.C1117T:p.R373C, chrX 2779749 2779749 C T het . 14 +line52002 nonsynonymous SNV ARSD:NM_009589:exon7:c.C1073G:p.T358R, chrX 2832742 2832742 G C het . 21 +line52003 nonsynonymous SNV ARSD:NM_001669:exon5:c.C671G:p.S224C,ARSD:NM_009589:exon5:c.C671G:p.S224C, chrX 2836037 2836037 G C het . 31 +line52005 nonsynonymous SNV ARSE:NM_001282631:exon8:c.G1135A:p.G379S,ARSE:NM_000047:exon9:c.G1270A:p.G424S,ARSE:NM_001282628:exon10:c.G1345A:p.G449S, chrX 2856155 2856155 C T het . 21 +line52010 synonymous SNV ARSE:NM_001282631:exon5:c.G651A:p.T217T,ARSE:NM_000047:exon6:c.G786A:p.T262T,ARSE:NM_001282628:exon7:c.G861A:p.T287T, chrX 2867413 2867413 C T het . 23 +line52011 synonymous SNV ARSH:NM_001011719:exon2:c.C147T:p.L49L, chrX 2928125 2928125 C T het . 28 +line52012 synonymous SNV ARSH:NM_001011719:exon2:c.C192T:p.T64T, chrX 2928170 2928170 C T het . 20 +line52013 synonymous SNV ARSH:NM_001011719:exon6:c.T949C:p.L317L, chrX 2942109 2942109 T C het . 18 +line52023 nonsynonymous SNV ARSF:NM_001201539:exon11:c.C1579T:p.H527Y,ARSF:NM_004042:exon11:c.C1579T:p.H527Y,ARSF:NM_001201538:exon11:c.C1579T:p.H527Y, chrX 3030403 3030403 C T het . 18 +line52036 nonsynonymous SNV PRKX:NM_005044:exon1:c.T128C:p.V43A, chrX 3631167 3631167 A G het . 11 +line52107 nonsynonymous SNV NLGN4X:NM_181332:exon6:c.C2360T:p.T787M,NLGN4X:NM_020742:exon6:c.C2360T:p.T787M,NLGN4X:NM_001282145:exon7:c.C2360T:p.T787M,NLGN4X:NM_001282146:exon6:c.C2360T:p.T787M, chrX 5810949 5810949 G A het . 24 +line52131 nonsynonymous SNV PUDP:NM_001178135:exon4:c.C623A:p.T208N, chrX 6975752 6975752 G T het . 9 +line52132 nonsynonymous SNV PUDP:NM_001178135:exon4:c.G593C:p.C198S, chrX 6975782 6975782 C G het . 15 +line52133 synonymous SNV PUDP:NM_001178136:exon3:c.G327A:p.P109P,PUDP:NM_001135565:exon4:c.G525A:p.P175P,PUDP:NM_001178135:exon3:c.G456A:p.P152P,PUDP:NM_012080:exon3:c.G456A:p.P152P, chrX 6995315 6995315 C T het . 19 +line52157 nonsynonymous SNV VCX2:NM_016378:exon3:c.C413G:p.T138S, chrX 8138080 8138080 G C het . 16 +line52166 synonymous SNV ANOS1:NM_000216:exon12:c.C1833T:p.I611I, chrX 8503641 8503641 G A het . 10 +line52169 nonsynonymous SNV ANOS1:NM_000216:exon11:c.G1600A:p.V534I, chrX 8504833 8504833 C T het . 22 +line52216 synonymous SNV SHROOM2:NM_001649:exon3:c.A399G:p.P133P, chrX 9859098 9859098 A G het . 12 +line52225 synonymous SNV WWC3:NM_015691:exon11:c.T1575C:p.D525D, chrX 10085674 10085674 T C het . 7 +line52234 nonsynonymous SNV AMELX:NM_001142:exon5:c.A226C:p.T76P,AMELX:NM_182681:exon4:c.A178C:p.T60P,AMELX:NM_182680:exon6:c.A268C:p.T90P, chrX 11316749 11316749 A C het . 9 +line52268 synonymous SNV FRMPD4:NM_014728:exon13:c.C1401G:p.V467V, chrX 12725701 12725701 C G het . 13 +line52276 synonymous SNV PRPS2:NM_001039091:exon1:c.G45A:p.L15L,PRPS2:NM_002765:exon1:c.G45A:p.L15L, chrX 12809661 12809661 G A het . 5 +line52283 nonsynonymous SNV TLR7:NM_016562:exon3:c.A32T:p.Q11L, chrX 12903659 12903659 A T het . 14 +line52284 synonymous SNV TLR8:NM_016610:exon3:c.T2823C:p.D941D,TLR8:NM_138636:exon2:c.T2769C:p.D923D, chrX 12939928 12939928 T C het . 17 +line52309 nonsynonymous SNV TCEANC:NM_152634:exon4:c.C578T:p.S193L,TCEANC:NM_001297564:exon3:c.C488T:p.S163L,TCEANC:NM_001297563:exon5:c.C488T:p.S163L, chrX 13681115 13681115 C T het . 16 +line52310 synonymous SNV TCEANC:NM_152634:exon4:c.C1101T:p.N367N,TCEANC:NM_001297564:exon3:c.C1011T:p.N337N,TCEANC:NM_001297563:exon5:c.C1011T:p.N337N, chrX 13681638 13681638 C T het . 11 +line52311 nonsynonymous SNV TCEANC:NM_152634:exon4:c.G1142T:p.W381L,TCEANC:NM_001297564:exon3:c.G1052T:p.W351L,TCEANC:NM_001297563:exon5:c.G1052T:p.W351L, chrX 13681679 13681679 G T het . 6 +line52341 synonymous SNV GLRA2:NM_002063:exon7:c.T747C:p.H249H,GLRA2:NM_001118886:exon7:c.T747C:p.H249H,GLRA2:NM_001171942:exon9:c.T480C:p.H160H,GLRA2:NM_001118885:exon8:c.T747C:p.H249H, chrX 14627144 14627144 T C het . 12 +line52365 nonsynonymous SNV ASB9:NM_001031739:exon7:c.G785T:p.C262F, chrX 15262728 15262728 C A het . 27 +line52376 nonsynonymous SNV ASB11:NM_001012428:exon6:c.A724G:p.S242G,ASB11:NM_080873:exon6:c.A787G:p.S263G,ASB11:NM_001201583:exon6:c.A736G:p.S246G, chrX 15306063 15306063 T C het . 7 +line52377 synonymous SNV ASB11:NM_001012428:exon1:c.T51C:p.R17R, chrX 15332558 15332558 A G het . 22 +line52383 synonymous SNV PIR:NM_003662:exon8:c.G681A:p.Q227Q,PIR:NM_001018109:exon8:c.G681A:p.Q227Q, chrX 15415583 15415583 C T het . 20 +line52392 synonymous SNV ACE2:NM_021804:exon18:c.G2247A:p.V749V, chrX 15582209 15582209 C T het . 12 +line52409 synonymous SNV ZRSR2:NM_005089:exon10:c.C864T:p.N288N, chrX 15838366 15838366 C T het . 14 +line52417 synonymous SNV GRPR:NM_005314:exon2:c.T453C:p.S151S, chrX 16168467 16168467 T C het . 13 +line52418 synonymous SNV GRPR:NM_005314:exon2:c.T663C:p.I221I, chrX 16168677 16168677 T C het . 23 +line52436 synonymous SNV TXLNG:NM_001168683:exon8:c.G930A:p.Q310Q,TXLNG:NM_018360:exon10:c.G1326A:p.Q442Q, chrX 16859628 16859628 G A het . 14 +line52451 nonsynonymous SNV NHS:NM_001136024:exon7:c.C1720A:p.P574T,NHS:NM_001291868:exon6:c.C1657A:p.P553T,NHS:NM_001291867:exon7:c.C2251A:p.P751T,NHS:NM_198270:exon6:c.C2188A:p.P730T, chrX 17744477 17744477 C A het . 18 +line52452 nonsynonymous SNV RAI2:NM_021785:exon2:c.A754G:p.M252V,RAI2:NM_001172732:exon3:c.A604G:p.M202V,RAI2:NM_001172743:exon3:c.A754G:p.M252V,RAI2:NM_001172739:exon3:c.A754G:p.M252V, chrX 17819377 17819377 T C het . 5 +line52464 nonsynonymous SNV BEND2:NM_153346:exon4:c.T462G:p.F154L,BEND2:NM_001184767:exon4:c.T462G:p.F154L, chrX 18230715 18230715 A C het . 17 +line52466 synonymous SNV BEND2:NM_153346:exon3:c.G363A:p.T121T,BEND2:NM_001184767:exon3:c.G363A:p.T121T, chrX 18231907 18231907 C T het . 5 +line52470 synonymous SNV SCML2:NM_006089:exon5:c.C342T:p.D114D, chrX 18342034 18342034 G A het . 40 +line52479 synonymous SNV RS1:NM_000330:exon3:c.C87T:p.G29G, chrX 18674870 18674870 G A het . 28 +line52513 nonsynonymous SNV MAP3K15:NM_001001671:exon4:c.G574A:p.A192T, chrX 19482476 19482476 C T het . 14 +line52516 nonsynonymous SNV SH3KBP1:NM_001024666:exon16:c.A1808G:p.E603G,SH3KBP1:NM_001353892:exon17:c.A1865G:p.E622G,SH3KBP1:NM_001353891:exon18:c.A1994G:p.E665G,SH3KBP1:NM_001184960:exon12:c.A1205G:p.E402G,SH3KBP1:NM_001353893:exon17:c.A1817G:p.E606G,SH3KBP1:NM_001353894:exon16:c.A1688G:p.E563G,SH3KBP1:NM_001353897:exon11:c.A1076G:p.E359G,SH3KBP1:NM_001353890:exon16:c.A1790G:p.E597G,SH3KBP1:NM_001353895:exon17:c.A1745G:p.E582G,SH3KBP1:NM_031892:exon17:c.A1919G:p.E640G, chrX 19555872 19555872 T C het . 22 +line52521 nonsynonymous SNV RPS6KA3:NM_004586:exon2:c.T113G:p.I38S, chrX 20252889 20252889 A C het . 28 +line52542 synonymous SNV MBTPS2:NM_015884:exon2:c.A222G:p.Q74Q, chrX 21861434 21861434 A G het . 35 +line52565 nonsynonymous SNV CBLL2:NM_152577:exon1:c.C498A:p.D166E, chrX 22291606 22291606 C A het . 17 +line52566 synonymous SNV CBLL2:NM_152577:exon1:c.C624T:p.I208I, chrX 22291732 22291732 C T het . 13 +line52599 synonymous SNV PTCHD1:NM_173495:exon2:c.T858C:p.C286C, chrX 23398214 23398214 T C het . 10 +line52623 synonymous SNV ACOT9:NM_001330259:exon13:c.T1027C:p.L343L,ACOT9:NM_001033583:exon14:c.T1207C:p.L403L,ACOT9:NM_001037171:exon15:c.T1234C:p.L412L, chrX 23722835 23722835 A G het . 11 +line52640 nonsynonymous SNV CXorf58:NM_001169574:exon2:c.C70T:p.R24C,CXorf58:NM_152761:exon2:c.C70T:p.R24C, chrX 23928489 23928489 C T het . 14 +line52650 synonymous SNV EIF2S3:NM_001415:exon2:c.C99T:p.H33H, chrX 24073761 24073761 C T het . 33 +line52657 synonymous SNV SUPT20HL1:NM_001136234:exon1:c.G588C:p.T196T, chrX 24381387 24381387 G C het . 16 +line52658 nonsynonymous SNV SUPT20HL1:NM_001136234:exon1:c.A2599C:p.T867P, chrX 24383398 24383398 A C het . 22 +line52713 nonsynonymous SNV MAGEB18:NM_173699:exon2:c.C118T:p.P40S, chrX 26157220 26157220 C T het . 33 +line52714 synonymous SNV MAGEB18:NM_173699:exon2:c.C690T:p.A230A, chrX 26157792 26157792 C T het . 26 +line52760 nonsynonymous SNV PPP4R3C:NM_207319:exon1:c.T2075C:p.V692A, chrX 27479339 27479339 A G het . 42 +line52775 nonsynonymous SNV DCAF8L2:NM_001353448:exon7:c.A1033G:p.T345A,DCAF8L2:NM_001353449:exon6:c.A1033G:p.T345A,DCAF8L2:NM_001353450:exon5:c.A1033G:p.T345A, chrX 27766045 27766045 A G het . 29 +line52776 synonymous SNV DCAF8L2:NM_001353448:exon7:c.G1764A:p.T588T,DCAF8L2:NM_001353449:exon6:c.G1764A:p.T588T,DCAF8L2:NM_001353450:exon5:c.G1764A:p.T588T, chrX 27766776 27766776 G A het . 19 +line52777 nonsynonymous SNV MAGEB10:NM_182506:exon3:c.T149C:p.F50S, chrX 27839572 27839572 T C het . 27 +line52778 nonsynonymous SNV MAGEB10:NM_182506:exon3:c.G194A:p.R65Q, chrX 27839617 27839617 G A het . 21 +line52818 nonsynonymous SNV MAGEB2:NM_002364:exon2:c.G181A:p.E61K, chrX 30236878 30236878 G A het . 24 +line52819 nonsynonymous SNV MAGEB3:NM_002365:exon5:c.G320A:p.R107H, chrX 30254361 30254361 G A het . 12 +line52820 nonsynonymous SNV MAGEB3:NM_002365:exon5:c.T335C:p.I112T, chrX 30254376 30254376 T C het . 11 +line52821 synonymous SNV MAGEB3:NM_002365:exon5:c.A489G:p.V163V, chrX 30254530 30254530 A G het . 25 +line52822 synonymous SNV MAGEB4:NM_002367:exon1:c.A750G:p.V250V, chrX 30261002 30261002 A G het . 29 +line52823 synonymous SNV MAGEB4:NM_002367:exon1:c.G906C:p.L302L, chrX 30261158 30261158 G C het . 25 +line52833 synonymous SNV CXorf21:NM_025159:exon3:c.T627G:p.V209V, chrX 30577846 30577846 A C het . 22 +line52848 nonsynonymous SNV TAB3:NM_152787:exon6:c.T1180C:p.W394R, chrX 30872602 30872602 A G het . 18 +line52856 synonymous SNV FTHL17:NM_031894:exon1:c.G141A:p.V47V, chrX 31089930 31089930 C T het . 20 +line52879 nonsynonymous SNV DMD:NM_004014:exon5:c.G623A:p.R208Q,DMD:NM_004020:exon16:c.G1430A:p.R477Q,DMD:NM_004011:exon31:c.G4787A:p.R1596Q,DMD:NM_004023:exon16:c.G1430A:p.R477Q,DMD:NM_000109:exon59:c.G8786A:p.R2929Q,DMD:NM_004009:exon59:c.G8798A:p.R2933Q,DMD:NM_004021:exon16:c.G1430A:p.R477Q,DMD:NM_004022:exon16:c.G1430A:p.R477Q,DMD:NM_004006:exon59:c.G8810A:p.R2937Q,DMD:NM_004013:exon16:c.G1430A:p.R477Q,DMD:NM_004012:exon31:c.G4778A:p.R1593Q,DMD:NM_004010:exon59:c.G8441A:p.R2814Q, chrX 31496350 31496350 C T het . 31 +line52886 synonymous SNV DMD:NM_004020:exon10:c.T348C:p.N116N,DMD:NM_004011:exon25:c.T3705C:p.N1235N,DMD:NM_004023:exon10:c.T348C:p.N116N,DMD:NM_000109:exon53:c.T7704C:p.N2568N,DMD:NM_004009:exon53:c.T7716C:p.N2572N,DMD:NM_004021:exon10:c.T348C:p.N116N,DMD:NM_004022:exon10:c.T348C:p.N116N,DMD:NM_004006:exon53:c.T7728C:p.N2576N,DMD:NM_004013:exon10:c.T348C:p.N116N,DMD:NM_004012:exon25:c.T3696C:p.N1232N,DMD:NM_004010:exon53:c.T7359C:p.N2453N, chrX 31697636 31697636 A G het . 38 +line52907 nonsynonymous SNV DMD:NM_000109:exon21:c.A2621G:p.D874G,DMD:NM_004009:exon21:c.A2633G:p.D878G,DMD:NM_004006:exon21:c.A2645G:p.D882G,DMD:NM_004010:exon21:c.A2276G:p.D759G, chrX 32503194 32503194 T C het . 34 +line52956 synonymous SNV FAM47A:NM_203408:exon1:c.C1668T:p.L556L, chrX 34148728 34148728 G A het . 15 +line52960 nonsynonymous SNV FAM47B:NM_152631:exon1:c.C292T:p.L98F, chrX 34961240 34961240 C T het . 22 +line52961 nonsynonymous SNV FAM47B:NM_152631:exon1:c.C1162T:p.R388W, chrX 34962110 34962110 C T het . 21 +line52975 nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.C112T:p.L38F, chrX 35820425 35820425 C T het . 13 +line52976 nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.G383A:p.C128Y, chrX 35820696 35820696 G A het . 19 +line52977 nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.A482G:p.H161R, chrX 35820795 35820795 A G het . 22 +line52978 nonframeshift substitution MAGEB16:NM_001099921:exon2:c.742_743GA, chrX 35821055 35821056 AT GA het . 35 +line52979 stopgain MAGEB16:NM_001099921:exon2:c.C814T:p.R272X, chrX 35821127 35821127 C T het . 19 +line52983 nonsynonymous SNV CFAP47:NM_001304548:exon29:c.C4580A:p.T1527K, chrX 36091370 36091370 C A het . 37 +line52995 synonymous SNV DYNLT3:NM_006520:exon3:c.C183T:p.A61A, chrX 37701048 37701048 G A het . 9 +line53001 synonymous SNV HYPM:NM_012274:exon1:c.C171T:p.L57L, chrX 37850263 37850263 C T het . 27 +line53030 synonymous SNV BCOR:NM_001123383:exon4:c.T1260C:p.D420D,BCOR:NM_001123384:exon4:c.T1260C:p.D420D,BCOR:NM_017745:exon4:c.T1260C:p.D420D,BCOR:NM_001123385:exon4:c.T1260C:p.D420D, chrX 39933339 39933339 A G het . 33 +line53036 synonymous SNV ATP6AP2:NM_005765:exon3:c.G285A:p.S95S, chrX 40450602 40450602 G A het . 31 +line53043 synonymous SNV CXorf38:NM_144970:exon1:c.T76C:p.L26L, chrX 40506697 40506697 A G het . 8 +line53083 synonymous SNV GPR82:NM_080817:exon3:c.T939C:p.D313D, chrX 41587218 41587218 T C het . 13 +line53103 synonymous SNV MAOA:NM_001270458:exon9:c.G492T:p.R164R,MAOA:NM_000240:exon8:c.G891T:p.R297R, chrX 43591036 43591036 G T het . 37 +line53109 synonymous SNV MAOA:NM_001270458:exon15:c.T1011C:p.D337D,MAOA:NM_000240:exon14:c.T1410C:p.D470D, chrX 43603391 43603391 T C het . 44 +line53128 synonymous SNV FUNDC1:NM_173794:exon2:c.C48T:p.D16D, chrX 44401328 44401328 G A het . 8 +line53161 synonymous SNV KDM6A:NM_021140:exon20:c.G3111A:p.Q1037Q,KDM6A:NM_001291417:exon19:c.G2976A:p.Q992Q,KDM6A:NM_001291418:exon18:c.G2874A:p.Q958Q,KDM6A:NM_001291416:exon20:c.G3132A:p.Q1044Q,KDM6A:NM_001291421:exon18:c.G2223A:p.Q741Q,KDM6A:NM_001291415:exon21:c.G3267A:p.Q1089Q, chrX 44938563 44938563 G A het . 30 +line53166 nonsynonymous SNV CXorf36:NM_024689:exon2:c.G447C:p.E149D,CXorf36:NM_176819:exon2:c.G447C:p.E149D, chrX 45051047 45051047 C G het . 16 +line53167 nonsynonymous SNV CXorf36:NM_024689:exon2:c.G383A:p.R128K,CXorf36:NM_176819:exon2:c.G383A:p.R128K, chrX 45051111 45051111 C T het . 18 +line53208 synonymous SNV SLC9A7:NM_001257291:exon16:c.C1827T:p.Y609Y,SLC9A7:NM_032591:exon16:c.C1824T:p.Y608Y, chrX 46472826 46472826 G A het . 9 +line53213 synonymous SNV SLC9A7:NM_001257291:exon1:c.G144C:p.A48A,SLC9A7:NM_032591:exon1:c.G144C:p.A48A, chrX 46618321 46618321 C G het . 6 +line53224 synonymous SNV RBM10:NM_001204467:exon13:c.T1266C:p.G422G,RBM10:NM_001204466:exon12:c.T1038C:p.G346G,RBM10:NM_001204468:exon13:c.T1464C:p.G488G,RBM10:NM_152856:exon12:c.T1035C:p.G345G,RBM10:NM_005676:exon13:c.T1269C:p.G423G, chrX 47040634 47040634 T C het . 11 +line53225 nonsynonymous SNV RBM10:NM_001204467:exon18:c.C2013A:p.S671R,RBM10:NM_001204466:exon17:c.C1785A:p.S595R,RBM10:NM_001204468:exon18:c.C2211A:p.S737R,RBM10:NM_152856:exon17:c.C1782A:p.S594R,RBM10:NM_005676:exon18:c.C2016A:p.S672R, chrX 47044519 47044519 C A het . 39 +line53240 nonsynonymous SNV TIMP1:NM_003254:exon6:c.G575A:p.R192Q, chrX 47446041 47446041 G A het . 10 +line53242 synonymous SNV SYN1:NM_133499:exon3:c.T510C:p.N170N,SYN1:NM_006950:exon3:c.T510C:p.N170N, chrX 47466361 47466361 A G het . 31 +line53246 synonymous SNV ELK1:NM_005229:exon3:c.C465G:p.R155R,ELK1:NM_001114123:exon4:c.C465G:p.R155R, chrX 47498483 47498483 G C het . 31 +line53247 synonymous SNV ELK1:NM_005229:exon3:c.C234G:p.G78G,ELK1:NM_001257168:exon4:c.C234G:p.G78G,ELK1:NM_001114123:exon4:c.C234G:p.G78G, chrX 47498714 47498714 G C het . 13 +line53265 synonymous SNV ZNF630:NM_001037735:exon5:c.C1626T:p.P542P,ZNF630:NM_001190255:exon5:c.C1584T:p.P528P,ZNF630:NM_001282202:exon5:c.C1254T:p.P418P,ZNF630:NM_001282201:exon5:c.C1626T:p.P542P, chrX 47918205 47918205 G A het . 14 +line53275 synonymous SNV SSX5:NM_175723:exon6:c.G369A:p.S123S,SSX5:NM_021015:exon7:c.G492A:p.S164S, chrX 48049666 48049666 C T het . 17 +line53276 nonsynonymous SNV SSX5:NM_175723:exon2:c.G55C:p.E19Q,SSX5:NM_021015:exon2:c.G55C:p.E19Q, chrX 48054740 48054740 C G het . 12 +line53312 synonymous SNV EBP:NM_006579:exon2:c.G15T:p.A5A, chrX 48382174 48382174 G T het . 11 +line53313 nonsynonymous SNV TBC1D25:NM_001348265:exon6:c.A656G:p.N219S,TBC1D25:NM_001348264:exon6:c.A656G:p.N219S,TBC1D25:NM_001348262:exon6:c.A878G:p.N293S,TBC1D25:NM_001348263:exon6:c.A842G:p.N281S,TBC1D25:NM_002536:exon6:c.A830G:p.N277S, chrX 48418126 48418126 A G het . 11 +line53314 nonsynonymous SNV TBC1D25:NM_001348265:exon6:c.G1189A:p.A397T,TBC1D25:NM_001348264:exon6:c.G1189A:p.A397T,TBC1D25:NM_001348262:exon6:c.G1411A:p.A471T,TBC1D25:NM_001348263:exon6:c.G1375A:p.A459T,TBC1D25:NM_002536:exon6:c.G1363A:p.A455T, chrX 48418659 48418659 G A het . 14 +line53322 nonsynonymous SNV WDR13:NM_001347219:exon7:c.A698G:p.H233R,WDR13:NM_017883:exon6:c.A974G:p.H325R,WDR13:NM_001347217:exon7:c.A974G:p.H325R,WDR13:NM_001166426:exon5:c.A698G:p.H233R, chrX 48460314 48460314 A G het . 5 +line53332 synonymous SNV TIMM17B:NM_001167947:exon6:c.T378C:p.I126I,TIMM17B:NM_005834:exon5:c.T228C:p.I76I, chrX 48751471 48751471 A G het . 18 +line53334 frameshift deletion PQBP1:NM_001167989:exon5:c.451_452del:p.R151fs,PQBP1:NM_001032383:exon5:c.451_452del:p.R151fs,PQBP1:NM_001032384:exon5:c.451_452del:p.R151fs,PQBP1:NM_001032382:exon5:c.451_452del:p.R151fs,PQBP1:NM_001167990:exon5:c.427_428del:p.R143fs,PQBP1:NM_005710:exon4:c.451_452del:p.R151fs,PQBP1:NM_001032381:exon5:c.451_452del:p.R151fs, chrX 48759668 48759669 AG - het . 20 +line53337 synonymous SNV GRIPAP1:NM_020137:exon7:c.A483G:p.E161E, chrX 48847497 48847497 T C het . 12 +line53339 synonymous SNV TFE3:NM_006521:exon10:c.A1323G:p.V441V,TFE3:NM_001282142:exon10:c.A1008G:p.V336V, chrX 48888074 48888074 T C het . 7 +line53344 nonsynonymous SNV MAGIX:NM_024859:exon4:c.A335G:p.H112R, chrX 49021256 49021256 A G het . 26 +line53345 nonsynonymous SNV MAGIX:NM_001099682:exon4:c.G289C:p.V97L,MAGIX:NM_024859:exon5:c.G517C:p.V173L,MAGIX:NM_001099681:exon4:c.G289C:p.V97L, chrX 49021537 49021537 G C het . 5 +line53346 nonsynonymous SNV MAGIX:NM_001099682:exon5:c.T724C:p.F242L,MAGIX:NM_024859:exon6:c.T967C:p.F323L,MAGIX:NM_001099681:exon5:c.T739C:p.F247L, chrX 49022700 49022700 T C het . 4 +line53347 nonsynonymous SNV SYP:NM_003179:exon6:c.G877A:p.G293S, chrX 49047959 49047959 C T het . 21 +line53348 nonsynonymous SNV CACNA1F:NM_001256789:exon36:c.G4128T:p.E1376D,CACNA1F:NM_001256790:exon36:c.G3966T:p.E1322D,CACNA1F:NM_005183:exon36:c.G4161T:p.E1387D, chrX 49067914 49067914 C A het . 29 +line53351 nonsynonymous SNV CACNA1F:NM_001256789:exon5:c.G565T:p.D189Y,CACNA1F:NM_001256790:exon5:c.G370T:p.D124Y,CACNA1F:NM_005183:exon5:c.G565T:p.D189Y, chrX 49087028 49087028 C A het . 13 +line53377 synonymous SNV CCNB3:NM_033031:exon5:c.C1014A:p.T338T, chrX 50052183 50052183 C A het . 19 +line53380 stopgain CCNB3:NM_033670:exon7:c.C678A:p.Y226X,CCNB3:NM_033031:exon11:c.C3990A:p.Y1330X, chrX 50094269 50094269 C A het . 13 +line53381 unknown UNKNOWN chrX 50119085 50119085 C T het . 19 +line53382 unknown UNKNOWN chrX 50119882 50119882 C A het . 14 +line53383 unknown UNKNOWN chrX 50121146 50121146 - G het . 12 +line53385 unknown UNKNOWN chrX 50129369 50129369 A G het . 16 +line53391 unknown UNKNOWN chrX 50146570 50146570 C T het . 19 +line53399 synonymous SNV SHROOM4:NM_020717:exon6:c.A3468G:p.E1156E, chrX 50350674 50350674 T C het . 11 +line53402 nonsynonymous SNV SHROOM4:NM_020717:exon4:c.G1730T:p.R577L, chrX 50377343 50377343 C A het . 26 +line53417 synonymous SNV NUDT10:NM_001304963:exon1:c.A24G:p.T8T,NUDT10:NM_153183:exon2:c.A24G:p.T8T, chrX 51075841 51075841 A G het . 10 +line53448 synonymous SNV SPANXN5:NM_001009616:exon2:c.G201C:p.L67L, chrX 52825546 52825546 C G het . 15 +line53471 synonymous SNV XAGE3:NM_133179:exon5:c.G330A:p.Q110Q,XAGE3:NM_130776:exon5:c.G330A:p.Q110Q, chrX 52891653 52891653 C T het . 33 +line53492 nonframeshift deletion IQSEC2:NM_001111125:exon15:c.3735_3737del:p.1245_1246del, chrX 53264131 53264133 TGG - het . 14 +line53494 synonymous SNV IQSEC2:NM_015075:exon5:c.G1572T:p.L524L,IQSEC2:NM_001111125:exon5:c.G2187T:p.L729L, chrX 53279571 53279571 C A het . 14 +line53499 synonymous SNV RIBC1:NM_001267053:exon6:c.T597C:p.T199T,RIBC1:NM_001031745:exon7:c.T942C:p.T314T, chrX 53457622 53457622 T C het . 21 +line53505 nonsynonymous SNV HUWE1:NM_031407:exon79:c.T12319C:p.F4107L, chrX 53563447 53563447 A G het . 26 +line53506 synonymous SNV HUWE1:NM_031407:exon79:c.T12177C:p.G4059G, chrX 53563589 53563589 A G het . 11 +line53507 nonsynonymous SNV HUWE1:NM_031407:exon56:c.G7557T:p.M2519I, chrX 53587328 53587328 C A het . 22 +line53512 synonymous SNV HUWE1:NM_031407:exon23:c.A2109G:p.S703S, chrX 53641647 53641647 T C het . 40 +line53538 nonsynonymous SNV FAM120C:NM_017848:exon2:c.G897T:p.K299N,FAM120C:NM_001300788:exon2:c.G897T:p.K299N, chrX 54185852 54185852 C A het . 22 +line53540 nonsynonymous SNV FAM120C:NM_017848:exon1:c.T245C:p.I82T,FAM120C:NM_198456:exon1:c.T245C:p.I82T,FAM120C:NM_001300788:exon1:c.T245C:p.I82T, chrX 54209387 54209387 A G het . 19 +line53544 synonymous SNV ITIH6:NM_198510:exon8:c.G1716T:p.L572L, chrX 54784791 54784791 C A het . 27 +line53558 nonsynonymous SNV TRO:NM_016157:exon3:c.T665G:p.V222G,TRO:NM_001039705:exon3:c.T665G:p.V222G,TRO:NM_177556:exon3:c.T665G:p.V222G, chrX 54949630 54949630 T G het . 22 +line53560 synonymous SNV TRO:NM_001271183:exon10:c.C1938T:p.T646T,TRO:NM_001271184:exon11:c.C2154T:p.T718T,TRO:NM_001039705:exon12:c.C3345T:p.T1115T, chrX 54956502 54956502 C T het . 15 +line53562 nonsynonymous SNV PAGE2:NM_207339:exon2:c.C13G:p.L5V, chrX 55116466 55116466 C G het . 25 +line53577 synonymous SNV PAGE3:NM_001171252:exon4:c.A255C:p.G85G,PAGE3:NM_001303613:exon4:c.A255C:p.G85G,PAGE3:NM_001017931:exon4:c.A255C:p.G85G, chrX 55287031 55287031 T G het . 15 +line53578 nonsynonymous SNV PAGE3:NM_001171252:exon3:c.A103G:p.N35D,PAGE3:NM_001303613:exon3:c.A103G:p.N35D,PAGE3:NM_001017931:exon3:c.A103G:p.N35D, chrX 55289774 55289774 T C het . 13 +line53587 synonymous SNV MAGEH1:NM_014061:exon1:c.G492A:p.G164G, chrX 55479299 55479299 G A het . 19 +line53588 synonymous SNV USP51:NM_201286:exon2:c.G555A:p.E185E, chrX 55514818 55514818 C T het . 9 +line53592 nonsynonymous SNV FOXR2:NM_198451:exon1:c.T857C:p.V286A, chrX 55651001 55651001 T C het . 13 +line53640 synonymous SNV FAAH2:NM_001353840:exon1:c.T99C:p.G33G,FAAH2:NM_174912:exon1:c.T99C:p.G33G,FAAH2:NM_001353841:exon1:c.T99C:p.G33G, chrX 57313357 57313357 T C het . 9 +line53647 synonymous SNV FAAH2:NM_001353840:exon6:c.T822C:p.R274R,FAAH2:NM_174912:exon6:c.T822C:p.R274R,FAAH2:NM_001353841:exon5:c.T612C:p.R204R, chrX 57405163 57405163 T C het . 25 +line53664 synonymous SNV FAAH2:NM_001353840:exon9:c.T1284C:p.P428P,FAAH2:NM_174912:exon10:c.T1404C:p.P468P,FAAH2:NM_001353841:exon9:c.T1194C:p.P398P, chrX 57475132 57475132 T C het . 13 +line53672 nonsynonymous SNV ZXDB:NM_007157:exon1:c.G257T:p.G86V, chrX 57618738 57618738 G T het . 14 +line53709 synonymous SNV MSN:NM_002444:exon9:c.G1002A:p.E334E, chrX 64956699 64956699 G A het . 14 +line53719 nonsynonymous SNV HEPH:NM_138737:exon1:c.T116C:p.V39A, chrX 65382685 65382685 T C het . 18 +line53760 nonsynonymous SNV EDA2R:NM_001324201:exon4:c.A283G:p.T95A,EDA2R:NM_001199687:exon5:c.A385G:p.T129A,EDA2R:NM_001324204:exon3:c.A88G:p.T30A,EDA2R:NM_001324202:exon3:c.A104G:p.Y35C,EDA2R:NM_001324206:exon5:c.A385G:p.T129A,EDA2R:NM_001324199:exon3:c.A104G:p.Y35C,EDA2R:NM_021783:exon5:c.A385G:p.T129A,EDA2R:NM_001242310:exon4:c.A385G:p.T129A,EDA2R:NM_001324205:exon3:c.A88G:p.T30A, chrX 65822607 65822607 T C het . 9 +line53761 nonsynonymous SNV EDA2R:NM_001324201:exon3:c.G154A:p.D52N,EDA2R:NM_001199687:exon3:c.G170A:p.R57K,EDA2R:NM_001324206:exon3:c.G170A:p.R57K,EDA2R:NM_021783:exon3:c.G170A:p.R57K,EDA2R:NM_001242310:exon2:c.G170A:p.R57K, chrX 65824986 65824986 C T het . 13 +line53788 synonymous SNV AR:NM_000044:exon1:c.G639A:p.E213E,AR:NM_001348064:exon1:c.G639A:p.E213E,AR:NM_001348061:exon1:c.G639A:p.E213E,AR:NM_001348063:exon1:c.G639A:p.E213E, chrX 66765627 66765627 G A het . 19 +line53822 nonsynonymous SNV STARD8:NM_001142504:exon5:c.G980A:p.R327Q,STARD8:NM_014725:exon5:c.G980A:p.R327Q,STARD8:NM_001142503:exon6:c.G1220A:p.R407Q, chrX 67937976 67937976 G A het . 8 +line53831 nonsynonymous SNV PJA1:NM_001032396:exon2:c.G1653T:p.E551D,PJA1:NM_145119:exon2:c.G1818T:p.E606D,PJA1:NM_022368:exon3:c.G1254T:p.E418D, chrX 68381264 68381264 C A het . 9 +line53832 nonsynonymous SNV PJA1:NM_001032396:exon2:c.G1130A:p.S377N,PJA1:NM_145119:exon2:c.G1295A:p.S432N,PJA1:NM_022368:exon3:c.G731A:p.S244N, chrX 68381787 68381787 C T het . 29 +line53833 synonymous SNV PJA1:NM_001032396:exon2:c.C1005T:p.G335G,PJA1:NM_145119:exon2:c.C1170T:p.G390G,PJA1:NM_022368:exon3:c.C606T:p.G202G, chrX 68381912 68381912 G A het . 18 +line53834 synonymous SNV PJA1:NM_001032396:exon2:c.C81T:p.S27S,PJA1:NM_145119:exon2:c.C246T:p.S82S,PJA1:NM_022368:exon2:c.C246T:p.S82S, chrX 68382836 68382836 G A het . 18 +line53897 synonymous SNV GDPD2:NM_001171191:exon13:c.A1302G:p.R434R,GDPD2:NM_001171192:exon16:c.A1692G:p.R564R,GDPD2:NM_001171193:exon14:c.A1302G:p.R434R,GDPD2:NM_017711:exon15:c.A1539G:p.R513R, chrX 69652762 69652762 A G het . 21 +line53901 synonymous SNV TEX11:NM_001003811:exon27:c.T2319A:p.T773T,TEX11:NM_031276:exon26:c.T2274A:p.T758T, chrX 69774517 69774517 A T het . 9 +line53932 synonymous SNV SLC7A3:NM_032803:exon10:c.T1599C:p.S533S,SLC7A3:NM_001048164:exon10:c.T1599C:p.S533S, chrX 70146398 70146398 A G het . 5 +line53944 nonsynonymous SNV MED12:NM_005120:exon39:c.C5740A:p.Q1914K, chrX 70357225 70357225 C A het . 15 +line53967 synonymous SNV RTL5:NM_001024455:exon1:c.C1638T:p.R546R, chrX 71349753 71349753 G A het . 8 +line53968 synonymous SNV RTL5:NM_001024455:exon1:c.A1617G:p.G539G, chrX 71349774 71349774 T C het . 8 +line53969 nonsynonymous SNV RTL5:NM_001024455:exon1:c.A1258C:p.S420R, chrX 71350133 71350133 T G het . 29 +line53974 synonymous SNV NHSL2:NM_001013627:exon8:c.C3669T:p.P1223P, chrX 71363415 71363415 C T het . 10 +line53976 nonsynonymous SNV FLJ44635:NM_207422:exon2:c.T23C:p.I8T, chrX 71379702 71379702 T C het . 12 +line53977 synonymous SNV FLJ44635:NM_207422:exon2:c.C174T:p.S58S, chrX 71379853 71379853 C T het . 31 +line53978 nonsynonymous SNV FLJ44635:NM_207422:exon2:c.G202A:p.E68K, chrX 71379881 71379881 G A het . 30 +line53982 nonsynonymous SNV PIN4:NM_001170747:exon1:c.G47A:p.R16Q,PIN4:NM_006223:exon1:c.G47A:p.R16Q, chrX 71401607 71401607 G A het . 13 +line53983 nonsynonymous SNV PIN4:NM_001170747:exon1:c.C54A:p.S18R,PIN4:NM_006223:exon1:c.C54A:p.S18R, chrX 71401614 71401614 C A het . 13 +line53985 synonymous SNV PIN4:NM_006223:exon4:c.T444C:p.H148H, chrX 71417349 71417349 T C het . 15 +line53986 nonsynonymous SNV ERCC6L:NM_017669:exon2:c.G1939T:p.A647S,ERCC6L:NM_001009954:exon3:c.G1570T:p.A524S, chrX 71426678 71426678 C A het . 23 +line53987 nonsynonymous SNV ERCC6L:NM_017669:exon2:c.G897T:p.E299D,ERCC6L:NM_001009954:exon3:c.G528T:p.E176D, chrX 71427720 71427720 C A het . 28 +line53991 synonymous SNV RPS4X:NM_001007:exon5:c.G492A:p.L164L, chrX 71493691 71493691 C T het . 13 +line53996 nonsynonymous SNV CITED1:NM_001144887:exon3:c.G395T:p.G132V,CITED1:NM_001144886:exon3:c.G395T:p.G132V,CITED1:NM_001144885:exon4:c.G473T:p.G158V,CITED1:NM_004143:exon3:c.G395T:p.G132V, chrX 71521760 71521760 C A het . 18 +line53997 nonsynonymous SNV CITED1:NM_001144887:exon3:c.C288G:p.H96Q,CITED1:NM_001144886:exon3:c.C288G:p.H96Q,CITED1:NM_001144885:exon4:c.C366G:p.H122Q,CITED1:NM_004143:exon3:c.C288G:p.H96Q, chrX 71521867 71521867 G C het . 26 +line54006 nonsynonymous SNV PHKA1:NM_001172436:exon18:c.A1937C:p.N646T,PHKA1:NM_002637:exon18:c.A1937C:p.N646T,PHKA1:NM_001122670:exon18:c.A1937C:p.N646T, chrX 71842982 71842982 T G het . 24 +line54043 nonsynonymous SNV SLC16A2:NM_006517:exon1:c.T97C:p.S33P, chrX 73641569 73641569 T C het . 24 +line54053 nonsynonymous SNV NEXMIF:NM_001008537:exon3:c.G3728T:p.R1243L, chrX 73960664 73960664 C A het . 32 +line54054 synonymous SNV NEXMIF:NM_001008537:exon3:c.G816T:p.L272L, chrX 73963576 73963576 C A het . 26 +line54059 nonsynonymous SNV ABCB7:NM_004299:exon6:c.G640T:p.V214L,ABCB7:NM_001271697:exon5:c.G517T:p.V173L,ABCB7:NM_001271699:exon5:c.G520T:p.V174L,ABCB7:NM_001271698:exon5:c.G559T:p.V187L,ABCB7:NM_001271696:exon6:c.G637T:p.V213L, chrX 74295415 74295415 C A het . 33 +line54067 synonymous SNV UPRT:NM_001307944:exon1:c.T381G:p.R127R,UPRT:NM_145052:exon1:c.T381G:p.R127R, chrX 74494470 74494470 T G het . 3 +line54161 nonsynonymous SNV ATRX:NM_000489:exon9:c.C2785G:p.Q929E,ATRX:NM_138270:exon8:c.C2671G:p.Q891E, chrX 76937963 76937963 G C het . 46 +line54162 nonsynonymous SNV ATRX:NM_000489:exon9:c.G2733T:p.K911N,ATRX:NM_138270:exon8:c.G2619T:p.K873N, chrX 76938015 76938015 C A het . 54 +line54172 nonsynonymous SNV ATP7A:NM_000052:exon21:c.G4048A:p.E1350K,ATP7A:NM_001282224:exon20:c.G3814A:p.E1272K, chrX 77298857 77298857 G A het . 29 +line54180 synonymous SNV CYSLTR1:NM_006639:exon3:c.C927T:p.F309F,CYSLTR1:NM_001282188:exon4:c.C927T:p.F309F,CYSLTR1:NM_001282186:exon2:c.C927T:p.F309F,CYSLTR1:NM_001282187:exon4:c.C927T:p.F309F, chrX 77528317 77528317 G A het . 18 +line54196 nonsynonymous SNV RTL3:NM_152694:exon2:c.T803G:p.L268R, chrX 77913115 77913115 A C het . 18 +line54197 nonsynonymous SNV RTL3:NM_152694:exon2:c.C349T:p.P117S, chrX 77913569 77913569 G A het . 2 +line54229 synonymous SNV ITM2A:NM_001171581:exon4:c.G474A:p.V158V,ITM2A:NM_004867:exon5:c.G606A:p.V202V, chrX 78616923 78616923 C T het . 18 +line54268 nonsynonymous SNV TENT5D:NM_152630:exon3:c.C555G:p.D185E,TENT5D:NM_001170574:exon5:c.C555G:p.D185E, chrX 79698593 79698593 C G het . 35 +line54275 nonsynonymous SNV BRWD3:NM_153252:exon34:c.A3863G:p.K1288R, chrX 79943569 79943569 T C het . 29 +line54369 synonymous SNV POU3F4:NM_000307:exon1:c.A708G:p.E236E, chrX 82764040 82764040 A G het . 22 +line54370 nonsynonymous SNV POU3F4:NM_000307:exon1:c.G710C:p.G237A, chrX 82764042 82764042 G C het . 22 +line54386 nonsynonymous SNV HDX:NM_144657:exon3:c.T1190C:p.F397S,HDX:NM_001177479:exon4:c.T1190C:p.F397S,HDX:NM_001177478:exon3:c.T1016C:p.F339S, chrX 83723541 83723541 A G het . 5 +line54429 nonsynonymous SNV SATL1:NM_001012980:exon1:c.T835C:p.W279R, chrX 84363140 84363140 A G het . 19 +line54434 nonsynonymous SNV POF1B:NM_001307940:exon10:c.A1045T:p.M349L,POF1B:NM_024921:exon10:c.A1045T:p.M349L, chrX 84563135 84563135 T A het . 8 +line54435 nonsynonymous SNV POF1B:NM_001307940:exon6:c.G716C:p.C239S,POF1B:NM_024921:exon6:c.G716C:p.C239S, chrX 84600873 84600873 C G het . 10 +line54449 stopgain CHM:NM_001362519:exon13:c.G1153T:p.E385X,CHM:NM_001362517:exon13:c.G1153T:p.E385X,CHM:NM_000390:exon13:c.G1597T:p.E533X,CHM:NM_001362518:exon13:c.G1153T:p.E385X,CHM:NM_001320959:exon13:c.G1153T:p.E385X, chrX 85133982 85133982 C A het . 44 +line54454 synonymous SNV CHM:NM_000390:exon5:c.A351G:p.A117A, chrX 85219021 85219021 T C het . 24 +line54541 synonymous SNV KLHL4:NM_057162:exon7:c.C1359T:p.T453T,KLHL4:NM_019117:exon7:c.C1359T:p.T453T, chrX 86887244 86887244 C T het . 18 +line54603 nonsynonymous SNV TGIF2LX:NM_138960:exon2:c.G589A:p.V197I, chrX 89177673 89177673 G A het . 25 +line54662 nonsynonymous SNV NAP1L3:NM_004538:exon1:c.C670G:p.P224A, chrX 92927634 92927634 G C het . 37 +line54663 nonsynonymous SNV FAM133A:NM_001171110:exon5:c.G199A:p.E67K,FAM133A:NM_001171109:exon4:c.G199A:p.E67K,FAM133A:NM_001171111:exon3:c.G199A:p.E67K,FAM133A:NM_173698:exon4:c.G199A:p.E67K, chrX 92964617 92964617 G A het . 26 +line54747 nonsynonymous SNV RPA4:NM_013347:exon1:c.G97A:p.A33T, chrX 96139406 96139406 G A het . 15 +line54748 synonymous SNV RPA4:NM_013347:exon1:c.T150C:p.N50N, chrX 96139459 96139459 T C het . 15 +line54811 synonymous SNV PCDH19:NM_020766:exon1:c.C1627T:p.L543L,PCDH19:NM_001184880:exon1:c.C1627T:p.L543L,PCDH19:NM_001105243:exon1:c.C1627T:p.L543L, chrX 99661969 99661969 G A het . 24 +line54812 synonymous SNV PCDH19:NM_020766:exon1:c.C546T:p.G182G,PCDH19:NM_001184880:exon1:c.C546T:p.G182G,PCDH19:NM_001105243:exon1:c.C546T:p.G182G, chrX 99663050 99663050 G A het . 25 +line54819 synonymous SNV TNMD:NM_022144:exon3:c.G306A:p.V102V, chrX 99849017 99849017 G A het . 21 +line54831 nonsynonymous SNV SYTL4:NM_001174068:exon12:c.A1258G:p.I420V,SYTL4:NM_001129896:exon13:c.A1258G:p.I420V,SYTL4:NM_080737:exon14:c.A1258G:p.I420V, chrX 99941705 99941705 T C het . 15 +line54873 nonsynonymous SNV TAF7L:NM_024885:exon1:c.T101C:p.L34P, chrX 100547933 100547933 A G het . 37 +line54884 nonsynonymous SNV ARMCX4:NM_001256155:exon2:c.A250G:p.R84G, chrX 100743826 100743826 A G het . 15 +line54885 nonsynonymous SNV ARMCX4:NM_001256155:exon2:c.T2249C:p.L750P, chrX 100745825 100745825 T C het . 11 +line54886 nonsynonymous SNV ARMCX4:NM_001256155:exon2:c.A4502G:p.D1501G, chrX 100748078 100748078 A G het . 13 +line54887 nonsynonymous SNV ARMCX4:NM_001256155:exon2:c.A5551G:p.I1851V, chrX 100749127 100749127 A G het . 1 +line54888 synonymous SNV ARMCX4:NM_001256155:exon2:c.C6009T:p.H2003H, chrX 100749585 100749585 C T het . 18 +line54896 synonymous SNV ARMCX2:NM_177949:exon6:c.G1509A:p.Q503Q,ARMCX2:NM_014782:exon5:c.G1509A:p.Q503Q,ARMCX2:NM_001282231:exon6:c.G1509A:p.Q503Q, chrX 100911066 100911066 C T het . 35 +line54909 nonsynonymous SNV ZMAT1:NM_001282400:exon10:c.A1160G:p.K387R,ZMAT1:NM_001011657:exon7:c.A1673G:p.K558R,ZMAT1:NM_001282401:exon9:c.A1160G:p.K387R, chrX 101138726 101138726 T C het . 23 +line54910 nonsynonymous SNV ZMAT1:NM_001282400:exon10:c.A1094G:p.Q365R,ZMAT1:NM_001011657:exon7:c.A1607G:p.Q536R,ZMAT1:NM_001282401:exon9:c.A1094G:p.Q365R, chrX 101138792 101138792 T C het . 22 +line54923 nonsynonymous SNV TCEAL2:NM_080390:exon3:c.G203C:p.G68A, chrX 101382005 101382005 G C het . 34 +line54924 synonymous SNV TCEAL6:NM_001006938:exon3:c.C93T:p.D31D, chrX 101396211 101396211 G A het . 7 +line54928 synonymous SNV ARMCX5:NM_022838:exon3:c.C1653A:p.V551V,ARMCX5:NM_001168479:exon6:c.C1653A:p.V551V,ARMCX5:NM_001168480:exon6:c.C1653A:p.V551V,ARMCX5:NM_001168482:exon3:c.C1653A:p.V551V,ARMCX5:NM_001168478:exon4:c.C1653A:p.V551V,ARMCX5:NM_001168485:exon5:c.C1653A:p.V551V, chrX 101858722 101858722 C A het . 9 +line54932 synonymous SNV RAB40AL:NM_001031834:exon1:c.A786C:p.P262P, chrX 102193032 102193032 A C het . 8 +line54933 nonsynonymous SNV RAB40AL:NM_001031834:exon1:c.A791C:p.Q264P, chrX 102193037 102193037 A C het . 7 +line54934 nonsynonymous SNV RAB40AL:NM_001031834:exon1:c.A793C:p.S265R, chrX 102193039 102193039 A C het . 6 +line54936 synonymous SNV BEX1:NM_018476:exon3:c.C336T:p.P112P, chrX 102317867 102317867 G A het . 12 +line54937 stopgain NXF3:NM_022052:exon6:c.G589T:p.E197X, chrX 102338153 102338153 C A het . 18 +line54949 nonsynonymous SNV RAB40A:NM_080879:exon3:c.A134T:p.H45L, chrX 102755551 102755551 T A het . 23 +line54952 nonsynonymous SNV TCEAL4:NM_001300901:exon5:c.C464A:p.A155D,TCEAL4:NM_001305842:exon3:c.C35A:p.A12D,TCEAL4:NM_024863:exon3:c.C35A:p.A12D,TCEAL4:NM_001305841:exon2:c.C35A:p.A12D,TCEAL4:NM_001305840:exon4:c.C35A:p.A12D,TCEAL4:NM_001006935:exon3:c.C35A:p.A12D,TCEAL4:NM_001006937:exon3:c.C35A:p.A12D, chrX 102841638 102841638 C A het . 32 +line54953 synonymous SNV TCEAL4:NM_001300901:exon5:c.T867C:p.H289H,TCEAL4:NM_001305842:exon3:c.T438C:p.H146H,TCEAL4:NM_024863:exon3:c.T438C:p.H146H,TCEAL4:NM_001305841:exon2:c.T438C:p.H146H,TCEAL4:NM_001305840:exon4:c.T438C:p.H146H,TCEAL4:NM_001006935:exon3:c.T438C:p.H146H,TCEAL4:NM_001006937:exon3:c.T438C:p.H146H, chrX 102842041 102842041 T C het . 17 +line54954 synonymous SNV GLRA4:NM_001024452:exon8:c.C1047T:p.F349F, chrX 102968484 102968484 G A het . 18 +line54955 nonsynonymous SNV GLRA4:NM_001172285:exon7:c.C1003T:p.P335S, chrX 102973915 102973915 G A het . 9 +line54956 synonymous SNV GLRA4:NM_001024452:exon5:c.C555G:p.T185T,GLRA4:NM_001172285:exon5:c.C555G:p.T185T, chrX 102978806 102978806 G C het . 16 +line54957 nonsynonymous SNV GLRA4:NM_001024452:exon3:c.A253G:p.I85V,GLRA4:NM_001172285:exon3:c.A253G:p.I85V, chrX 102979486 102979486 T C het . 15 +line54963 synonymous SNV PLP1:NM_001128834:exon5:c.T609C:p.D203D,PLP1:NM_000533:exon4:c.T609C:p.D203D,PLP1:NM_001305004:exon4:c.T444C:p.D148D,PLP1:NM_199478:exon4:c.T504C:p.D168D, chrX 103042882 103042882 T C het . 23 +line54972 nonsynonymous SNV H2BFWT:NM_001002916:exon1:c.G368A:p.R123H, chrX 103267865 103267865 C T het . 24 +line54990 frameshift deletion TEX13A:NM_001291277:exon5:c.599delT:p.V200fs,TEX13A:NM_031274:exon5:c.599delT:p.V200fs, chrX 104464277 104464277 A - het . 31 +line55000 synonymous SNV NRK:NM_198465:exon13:c.A1368G:p.K456K, chrX 105153001 105153001 A G het . 9 +line55001 nonsynonymous SNV NRK:NM_198465:exon19:c.G3022A:p.G1008R, chrX 105168733 105168733 G A het . 16 +line55006 nonsynonymous SNV MUM1L1:NM_152423:exon5:c.C1536A:p.N512K,MUM1L1:NM_001171020:exon4:c.C1536A:p.N512K, chrX 105450961 105450961 C A het . 29 +line55024 synonymous SNV RBM41:NM_001171080:exon4:c.G411T:p.L137L,RBM41:NM_001324243:exon4:c.G516T:p.L172L,RBM41:NM_018301:exon4:c.G411T:p.L137L,RBM41:NM_001324242:exon4:c.G411T:p.L137L,RBM41:NM_001324244:exon4:c.G411T:p.L137L, chrX 106358694 106358694 C A het . 26 +line55031 synonymous SNV NUP62CL:NM_017681:exon7:c.T477C:p.R159R, chrX 106396455 106396455 A G het . 12 +line55047 synonymous SNV FRMPD3:NM_032428:exon10:c.G984A:p.S328S, chrX 106803609 106803609 G A het . 18 +line55070 synonymous SNV COL4A6:NM_001847:exon29:c.T2811C:p.R937R,COL4A6:NM_001287759:exon29:c.T2808C:p.R936R,COL4A6:NM_033641:exon29:c.T2808C:p.R936R,COL4A6:NM_001287758:exon30:c.T2859C:p.R953R,COL4A6:NM_001287760:exon29:c.T2808C:p.R936R, chrX 107418906 107418906 A G het . 17 +line55072 nonsynonymous SNV COL4A6:NM_001847:exon20:c.T1363C:p.S455P,COL4A6:NM_001287759:exon20:c.T1360C:p.S454P,COL4A6:NM_033641:exon20:c.T1360C:p.S454P,COL4A6:NM_001287758:exon20:c.T1360C:p.S454P,COL4A6:NM_001287760:exon20:c.T1360C:p.S454P, chrX 107433688 107433688 A G het . 17 +line55094 nonsynonymous SNV IRS4:NM_003604:exon1:c.G2786T:p.R929I, chrX 107976789 107976789 C A het . 48 +line55114 stopgain GUCY2F:NM_001522:exon2:c.G415T:p.G139X, chrX 108718751 108718751 C A het . 19 +line55138 synonymous SNV RTL9:NM_020769:exon3:c.T840A:p.G280G, chrX 109694685 109694685 T A het . 16 +line55152 synonymous SNV CHRDL1:NM_001143981:exon9:c.A954G:p.K318K,CHRDL1:NM_001143982:exon9:c.A951G:p.K317K,CHRDL1:NM_145234:exon9:c.A951G:p.K317K,CHRDL1:NM_001143983:exon7:c.A714G:p.K238K, chrX 109931856 109931856 T C het . 21 +line55175 nonsynonymous SNV RTL4:NM_001004308:exon3:c.T80C:p.L27P, chrX 111698036 111698036 T C het . 7 +line55176 nonsynonymous SNV RTL4:NM_001004308:exon3:c.G484T:p.D162Y, chrX 111698440 111698440 G T het . 17 +line55177 synonymous SNV RTL4:NM_001004308:exon3:c.C507T:p.L169L, chrX 111698463 111698463 C T het . 14 +line55183 nonframeshift deletion AMOT:NM_001113490:exon10:c.2903_2905del:p.968_969del,AMOT:NM_133265:exon11:c.1676_1678del:p.559_560del, chrX 112022477 112022479 CAG - het . 22 +line55184 nonsynonymous SNV AMOT:NM_001113490:exon9:c.G2473T:p.G825C,AMOT:NM_133265:exon10:c.G1246T:p.G416C, chrX 112024114 112024114 C A het . 21 +line55239 synonymous SNV RBMXL3:NM_001145346:exon1:c.G144A:p.S48S, chrX 114424148 114424148 G A het . 32 +line55240 nonsynonymous SNV RBMXL3:NM_001145346:exon1:c.C434G:p.P145R, chrX 114424438 114424438 C G het . 9 +line55241 synonymous SNV RBMXL3:NM_001145346:exon1:c.G501A:p.P167P, chrX 114424505 114424505 G A het . 3 +line55242 nonsynonymous SNV RBMXL3:NM_001145346:exon1:c.G1192A:p.D398N, chrX 114425196 114425196 G A het . 9 +line55243 synonymous SNV RBMXL3:NM_001145346:exon1:c.G1206A:p.G402G, chrX 114425210 114425210 G A het . 12 +line55244 nonsynonymous SNV RBMXL3:NM_001145346:exon1:c.G1234A:p.G412S, chrX 114425238 114425238 G A het . 13 +line55245 nonsynonymous SNV RBMXL3:NM_001145346:exon1:c.C1919A:p.A640D, chrX 114425923 114425923 C A het . 17 +line55246 nonsynonymous SNV RBMXL3:NM_001145346:exon1:c.C2167T:p.R723C, chrX 114426171 114426171 C T het . 12 +line55247 nonsynonymous SNV RBMXL3:NM_001145346:exon1:c.G2381A:p.R794H, chrX 114426385 114426385 G A het . 19 +line55248 synonymous SNV RBMXL3:NM_001145346:exon1:c.C2913T:p.Y971Y, chrX 114426917 114426917 C T het . 9 +line55343 nonsynonymous SNV WDR44:NM_001184966:exon11:c.C1610A:p.P537Q,WDR44:NM_019045:exon12:c.C1685A:p.P562Q,WDR44:NM_001184965:exon12:c.C1685A:p.P562Q, chrX 117544870 117544870 C A het . 19 +line55352 synonymous SNV DOCK11:NM_144658:exon17:c.G1872A:p.E624E, chrX 117722176 117722176 G A het . 5 +line55372 synonymous SNV LONRF3:NM_024778:exon1:c.T42C:p.A14A,LONRF3:NM_001031855:exon1:c.T42C:p.A14A, chrX 118108785 118108785 T C het . 5 +line55374 nonsynonymous SNV KIAA1210:NM_020721:exon2:c.G308T:p.G103V, chrX 118281538 118281538 C A het . 21 +line55383 nonsynonymous SNV SLC25A43:NM_145305:exon5:c.C1001T:p.P334L, chrX 118587003 118587003 C T het . 25 +line55386 nonsynonymous SNV SLC25A5:NM_001152:exon2:c.T332G:p.L111R, chrX 118603844 118603844 T G het . 27 +line55387 synonymous SNV SLC25A5:NM_001152:exon3:c.T699C:p.T233T, chrX 118604436 118604436 T C het . 18 +line55389 stopgain SLC25A5:NM_001152:exon4:c.G877T:p.E293X, chrX 118605001 118605001 G T het . 8 +line55390 nonsynonymous SNV SLC25A5:NM_001152:exon4:c.G888C:p.K296N, chrX 118605012 118605012 G C het . 8 +line55391 nonsynonymous SNV SLC25A5:NM_001152:exon4:c.C893T:p.T298I, chrX 118605017 118605017 C T het . 8 +line55403 synonymous SNV CXorf56:NM_001170570:exon3:c.C333T:p.G111G,CXorf56:NM_001170569:exon4:c.C228T:p.G76G,CXorf56:NM_022101:exon4:c.C375T:p.G125G, chrX 118678364 118678364 G A het . 13 +line55416 synonymous SNV SOWAHD:NM_001105576:exon1:c.C424A:p.R142R, chrX 118893054 118893054 C A het . 9 +line55417 synonymous SNV SOWAHD:NM_001105576:exon1:c.T507C:p.D169D, chrX 118893137 118893137 T C het . 13 +line55418 synonymous SNV SOWAHD:NM_001105576:exon1:c.T783C:p.S261S, chrX 118893413 118893413 T C het . 7 +line55440 nonframeshift insertion ZBTB33:NM_001184742:exon3:c.563_564insTGA:p.S188delinsSD,ZBTB33:NM_006777:exon2:c.563_564insTGA:p.S188delinsSD, chrX 119387833 119387833 - TGA het . 11 +line55445 synonymous SNV LAMP2:NM_002294:exon2:c.A156T:p.V52V,LAMP2:NM_001122606:exon2:c.A156T:p.V52V,LAMP2:NM_013995:exon2:c.A156T:p.V52V, chrX 119590533 119590533 T A het . 35 +line55451 nonsynonymous SNV MCTS1:NM_014060:exon3:c.G215A:p.R72K,MCTS1:NM_001137554:exon3:c.G218A:p.R73K, chrX 119739984 119739984 G A het . 22 +line55468 synonymous SNV CT47B1:NM_001145718:exon1:c.A546G:p.P182P, chrX 120008979 120008979 T C het . 18 +line55511 frameshift insertion GRIA3:NM_001256743:exon3:c.382dupG:p.G127fs, chrX 122336600 122336600 - G het . 12 +line55521 synonymous SNV GRIA3:NM_007325:exon9:c.T1200C:p.N400N,GRIA3:NM_000828:exon9:c.T1200C:p.N400N, chrX 122537277 122537277 T C het . 39 +line55523 synonymous SNV GRIA3:NM_007325:exon10:c.C1419T:p.S473S,GRIA3:NM_000828:exon10:c.C1419T:p.S473S, chrX 122538684 122538684 C T het . 27 +line55550 nonsynonymous SNV XIAP:NM_001167:exon6:c.A1268C:p.Q423P,XIAP:NM_001204401:exon6:c.A1268C:p.Q423P, chrX 123034511 123034511 A C het . 33 +line55578 nonsynonymous SNV TEX13D:NM_001355534:exon1:c.A44G:p.N15S, chrX 123466811 123466811 A G het . 3 +line55586 synonymous SNV TENM1:NM_001163278:exon26:c.C5007A:p.T1669T,TENM1:NM_014253:exon25:c.C4986A:p.T1662T,TENM1:NM_001163279:exon26:c.C5004A:p.T1668T, chrX 123540315 123540315 G T het . 14 +line55587 synonymous SNV TENM1:NM_001163278:exon25:c.A4497G:p.A1499A,TENM1:NM_014253:exon24:c.A4476G:p.A1492A,TENM1:NM_001163279:exon25:c.A4494G:p.A1498A, chrX 123554646 123554646 T C het . 11 +line55591 nonsynonymous SNV TENM1:NM_001163278:exon20:c.C3661T:p.P1221S,TENM1:NM_014253:exon20:c.C3661T:p.P1221S,TENM1:NM_001163279:exon20:c.C3658T:p.P1220S, chrX 123630900 123630900 G A het . 21 +line55599 nonsynonymous SNV TEX13C:NM_001195272:exon1:c.A2822G:p.K941R, chrX 124456790 124456790 A G het . 21 +line55650 synonymous SNV PRR32:NM_001122716:exon2:c.G807A:p.P269P, chrX 125955428 125955428 G A het . 32 +line55712 nonsynonymous SNV BCORL1:NM_001184772:exon3:c.T331C:p.F111L,BCORL1:NM_021946:exon3:c.T331C:p.F111L, chrX 129147079 129147079 T C het . 11 +line55714 synonymous SNV ELF4:NM_001127197:exon9:c.G1509A:p.T503T,ELF4:NM_001421:exon9:c.G1509A:p.T503T, chrX 129201179 129201179 C T het . 12 +line55724 synonymous SNV AIFM1:NM_145812:exon3:c.T261C:p.D87D,AIFM1:NM_001130847:exon3:c.T273C:p.D91D,AIFM1:NM_004208:exon3:c.T273C:p.D91D, chrX 129283520 129283520 A G het . 31 +line55726 nonsynonymous SNV AIFM1:NM_001130847:exon2:c.G184A:p.G62S,AIFM1:NM_004208:exon2:c.G184A:p.G62S, chrX 129290500 129290500 C T het . 37 +line55728 nonsynonymous SNV RAB33A:NM_004794:exon1:c.C16G:p.L6V, chrX 129306052 129306052 C G het . 13 +line55730 stopgain ZNF280C:NM_017666:exon18:c.G2185T:p.E729X, chrX 129339104 129339104 C A het . 25 +line55731 synonymous SNV ZNF280C:NM_017666:exon15:c.A1851C:p.G617G, chrX 129349295 129349295 T G het . 9 +line55752 synonymous SNV IGSF1:NM_001170961:exon14:c.T2571C:p.Y857Y,IGSF1:NM_001170962:exon13:c.T2529C:p.Y843Y,IGSF1:NM_001555:exon14:c.T2556C:p.Y852Y, chrX 130410965 130410965 A G het . 9 +line55755 synonymous SNV IGSF1:NM_001170961:exon6:c.G948A:p.V316V,IGSF1:NM_001170962:exon5:c.G921A:p.V307V,IGSF1:NM_001555:exon6:c.G948A:p.V316V, chrX 130416958 130416958 C T het . 15 +line55756 synonymous SNV IGSF1:NM_001170961:exon4:c.A114G:p.P38P,IGSF1:NM_205833:exon4:c.A114G:p.P38P,IGSF1:NM_001170963:exon4:c.A114G:p.P38P,IGSF1:NM_001170962:exon3:c.A87G:p.P29P,IGSF1:NM_001555:exon4:c.A114G:p.P38P, chrX 130420006 130420006 T C het . 7 +line55757 synonymous SNV IGSF1:NM_001170961:exon3:c.A93G:p.S31S,IGSF1:NM_205833:exon3:c.A93G:p.S31S,IGSF1:NM_001170963:exon3:c.A93G:p.S31S,IGSF1:NM_001555:exon3:c.A93G:p.S31S, chrX 130420415 130420415 T C het . 11 +line55764 synonymous SNV OR13H1:NM_001004486:exon1:c.A420G:p.V140V, chrX 130678467 130678467 A G het . 11 +line55765 synonymous SNV OR13H1:NM_001004486:exon1:c.C549G:p.L183L, chrX 130678596 130678596 C G het . 9 +line55766 nonsynonymous SNV OR13H1:NM_001004486:exon1:c.A797C:p.Y266S, chrX 130678844 130678844 A C het . 8 +line55785 synonymous SNV USP26:NM_031907:exon1:c.G576A:p.E192E, chrX 132161673 132161673 C T het . 20 +line55805 synonymous SNV CCDC160:NM_001101357:exon2:c.C721T:p.L241L,CCDC160:NM_001353453:exon3:c.C721T:p.L241L, chrX 133379551 133379551 C T het . 34 +line55825 synonymous SNV ZNF75D:NM_001185063:exon4:c.G1149A:p.T383T,ZNF75D:NM_007131:exon7:c.G1434A:p.T478T, chrX 134421168 134421168 C T het . 20 +line55850 synonymous SNV CT45A10:NM_001291528:exon3:c.T291C:p.N97N,CT45A10:NM_001291529:exon3:c.T291C:p.N97N,CT45A10:NM_001291530:exon3:c.T291C:p.N97N,CT45A10:NM_001291527:exon3:c.T291C:p.N97N, chrX 134948034 134948034 A G het . 37 +line55851 synonymous SNV SAGE1:NM_018666:exon2:c.G24A:p.T8T, chrX 134978425 134978425 G A het . 24 +line55852 synonymous SNV SAGE1:NM_018666:exon4:c.T285C:p.N95N, chrX 134986700 134986700 T C het . 12 +line55853 synonymous SNV SAGE1:NM_018666:exon13:c.A1497G:p.Q499Q, chrX 134991078 134991078 A G het . 19 +line55854 nonsynonymous SNV SAGE1:NM_018666:exon18:c.T2414C:p.L805S, chrX 134994005 134994005 T C het . 35 +line55855 synonymous SNV SAGE1:NM_018666:exon18:c.G2463A:p.K821K, chrX 134994054 134994054 G A het . 26 +line55880 nonsynonymous SNV MAP7D3:NM_024597:exon11:c.A1883G:p.Q628R,MAP7D3:NM_001173517:exon10:c.A1778G:p.Q593R,MAP7D3:NM_001173516:exon11:c.A1829G:p.Q610R, chrX 135310785 135310785 T C het . 16 +line55881 nonsynonymous SNV MAP7D3:NM_024597:exon9:c.A1505C:p.E502A,MAP7D3:NM_001173517:exon8:c.A1400C:p.E467A,MAP7D3:NM_001173516:exon9:c.A1451C:p.E484A, chrX 135313034 135313034 T G het . 12 +line55883 nonsynonymous SNV MAP7D3:NM_024597:exon5:c.A511G:p.M171V,MAP7D3:NM_001173517:exon5:c.A511G:p.M171V,MAP7D3:NM_001173516:exon5:c.A457G:p.M153V, chrX 135323343 135323343 T C het . 24 +line55887 nonsynonymous SNV ADGRG4:NM_153834:exon6:c.A828G:p.I276M, chrX 135426693 135426693 A G het . 23 +line55888 nonsynonymous SNV ADGRG4:NM_153834:exon6:c.C1103A:p.P368H, chrX 135426968 135426968 C A het . 19 +line55889 nonsynonymous SNV ADGRG4:NM_153834:exon6:c.C3638A:p.T1213N, chrX 135429503 135429503 C A het . 13 +line55890 nonsynonymous SNV ADGRG4:NM_153834:exon6:c.C3865T:p.R1289W, chrX 135429730 135429730 C T het . 13 +line55891 synonymous SNV ADGRG4:NM_153834:exon6:c.T4179C:p.T1393T, chrX 135430044 135430044 T C het . 22 +line55892 synonymous SNV ADGRG4:NM_153834:exon6:c.C4362T:p.F1454F, chrX 135430227 135430227 C T het . 24 +line55893 nonsynonymous SNV ADGRG4:NM_153834:exon6:c.T4618C:p.S1540P, chrX 135430483 135430483 T C het . 15 +line55894 nonsynonymous SNV ADGRG4:NM_153834:exon6:c.C4652T:p.P1551L, chrX 135430517 135430517 C T het . 12 +line55895 nonsynonymous SNV ADGRG4:NM_153834:exon6:c.T5371C:p.F1791L, chrX 135431236 135431236 T C het . 12 +line55896 synonymous SNV ADGRG4:NM_153834:exon6:c.C5493T:p.P1831P, chrX 135431358 135431358 C T het . 12 +line55899 synonymous SNV ADGRG4:NM_153834:exon17:c.C7941A:p.T2647T, chrX 135474420 135474420 C A het . 16 +line55900 nonframeshift deletion ADGRG4:NM_153834:exon17:c.7966_7968del:p.2656_2656del, chrX 135474445 135474447 GAT - het . 17 +line55902 synonymous SNV ADGRG4:NM_153834:exon20:c.T8271C:p.F2757F, chrX 135480126 135480126 T C het . 22 +line55903 synonymous SNV ADGRG4:NM_153834:exon25:c.G9117A:p.T3039T, chrX 135496398 135496398 G A het . 20 +line55906 nonsynonymous SNV BRS3:NM_001727:exon2:c.C611A:p.T204N, chrX 135572468 135572468 C A het . 25 +line55916 frameshift deletion RBMX:NM_002139:wholegene,RBMX:NM_001164803:wholegene, chrX 135961586 135961587 TG - het . 10 +line55920 nonsynonymous SNV GPR101:NM_054021:exon1:c.G370T:p.V124L, chrX 136113464 136113464 C A het . 4 +line55974 nonsynonymous SNV F9:NM_000133:exon6:c.A580G:p.T194A,F9:NM_001313913:exon5:c.A466G:p.T156A, chrX 138633280 138633280 A G het . 22 +line55986 nonsynonymous SNV ATP11C:NM_173694:exon5:c.T342G:p.C114W,ATP11C:NM_001010986:exon5:c.T342G:p.C114W,ATP11C:NM_001353811:exon5:c.T333G:p.C111W,ATP11C:NM_001353810:exon6:c.T333G:p.C111W,ATP11C:NM_001353812:exon5:c.T333G:p.C111W, chrX 138897130 138897130 A C het . 20 +line56024 nonsynonymous SNV SPANXD:NM_032417:exon2:c.A244C:p.M82L,SPANXC:NM_022661:exon2:c.A244C:p.M82L, chrX 140785672 140785672 T G het . 11 +line56031 nonsynonymous SNV MAGEC3:NM_138702:exon5:c.G919A:p.A307T, chrX 140983064 140983064 G A het . 5 +line56032 synonymous SNV MAGEC3:NM_138702:exon5:c.C958T:p.L320L, chrX 140983103 140983103 C T het . 7 +line56033 nonsynonymous SNV MAGEC3:NM_138702:exon5:c.G982A:p.A328T, chrX 140983127 140983127 G A het . 5 +line56034 nonsynonymous SNV MAGEC1:NM_005462:exon4:c.G74A:p.C25Y, chrX 140993264 140993264 G A het . 9 +line56035 nonsynonymous SNV MAGEC1:NM_005462:exon4:c.C452T:p.T151I, chrX 140993642 140993642 C T het . 32 +line56036 nonsynonymous SNV MAGEC1:NM_005462:exon4:c.C847A:p.L283I, chrX 140994037 140994037 C A het . 3 +line56037 nonsynonymous SNV MAGEC1:NM_005462:exon4:c.C981G:p.H327Q, chrX 140994171 140994171 C G het . 5 +line56038 nonsynonymous SNV MAGEC1:NM_005462:exon4:c.C1327G:p.L443V, chrX 140994517 140994517 C G het . 43 +line56039 nonsynonymous SNV MAGEC1:NM_005462:exon4:c.C2125T:p.H709Y, chrX 140995315 140995315 C T het . 17 +line56040 synonymous SNV MAGEC1:NM_005462:exon4:c.G3174A:p.E1058E, chrX 140996364 140996364 G A het . 10 +line56049 synonymous SNV MAGEC2:NM_016249:exon3:c.G909A:p.P303P, chrX 141290865 141290865 C T het . 27 +line56087 stopgain UBE2NL:NM_001012989:exon1:c.T266G:p.L89X, chrX 142967468 142967468 T G het . 20 +line56143 synonymous SNV SLITRK2:NM_001144005:exon5:c.G309A:p.T103T,SLITRK2:NM_001144004:exon5:c.G309A:p.T103T,SLITRK2:NM_032539:exon5:c.G309A:p.T103T,SLITRK2:NM_001144010:exon3:c.G309A:p.T103T,SLITRK2:NM_001144006:exon3:c.G309A:p.T103T,SLITRK2:NM_001144009:exon2:c.G309A:p.T103T,SLITRK2:NM_001144008:exon3:c.G309A:p.T103T,SLITRK2:NM_001144003:exon5:c.G309A:p.T103T, chrX 144904252 144904252 G A het . 21 +line56144 synonymous SNV SLITRK2:NM_001144005:exon5:c.T939C:p.P313P,SLITRK2:NM_001144004:exon5:c.T939C:p.P313P,SLITRK2:NM_032539:exon5:c.T939C:p.P313P,SLITRK2:NM_001144010:exon3:c.T939C:p.P313P,SLITRK2:NM_001144006:exon3:c.T939C:p.P313P,SLITRK2:NM_001144009:exon2:c.T939C:p.P313P,SLITRK2:NM_001144008:exon3:c.T939C:p.P313P,SLITRK2:NM_001144003:exon5:c.T939C:p.P313P, chrX 144904882 144904882 T C het . 24 +line56223 nonsynonymous SNV FMR1:NM_002024:exon11:c.C1046A:p.A349D,FMR1:NM_001185075:exon11:c.C1046A:p.A349D,FMR1:NM_001185081:exon11:c.C1046A:p.A349D,FMR1:NM_001185076:exon11:c.C1046A:p.A349D,FMR1:NM_001185082:exon11:c.C1046A:p.A349D, chrX 147019040 147019040 C A het . 44 +line56232 nonsynonymous SNV FMR1NB:NM_152578:exon3:c.C425T:p.A142V, chrX 147088249 147088249 C T het . 14 +line56288 synonymous SNV IDS:NM_000202:exon4:c.C438T:p.T146T,IDS:NM_006123:exon4:c.C438T:p.T146T,IDS:NM_001166550:exon4:c.C168T:p.T56T, chrX 148582549 148582549 G A het . 22 +line56291 synonymous SNV MAGEA11:NM_005366:exon5:c.T1077C:p.L359L,MAGEA11:NM_001011544:exon5:c.T990C:p.L330L, chrX 148798223 148798223 T C het . 9 +line56292 synonymous SNV MAGEA8:NM_005364:exon3:c.A681G:p.A227A,MAGEA8:NM_001166401:exon3:c.A681G:p.A227A,MAGEA8:NM_001166400:exon4:c.A681G:p.A227A, chrX 149013727 149013727 A G het . 6 +line56311 nonsynonymous SNV MAMLD1:NM_001177465:exon3:c.C1000T:p.P334S,MAMLD1:NM_005491:exon3:c.C1075T:p.P359S,MAMLD1:NM_001177466:exon2:c.C1000T:p.P334S, chrX 149638920 149638920 C T het . 8 +line56312 nonframeshift deletion MAMLD1:NM_001177465:exon3:c.1405_1407del:p.469_469del,MAMLD1:NM_005491:exon3:c.1480_1482del:p.494_494del,MAMLD1:NM_001177466:exon2:c.1405_1407del:p.469_469del, chrX 149639325 149639327 CAG - het . 23 +line56313 nonframeshift deletion MAMLD1:NM_001177465:exon3:c.1713_1715del:p.571_572del,MAMLD1:NM_005491:exon3:c.1788_1790del:p.596_597del,MAMLD1:NM_001177466:exon2:c.1713_1715del:p.571_572del, chrX 149639633 149639635 GCA - het . 40 +line56315 nonsynonymous SNV MAMLD1:NM_005491:exon4:c.A1985G:p.N662S,MAMLD1:NM_001177466:exon3:c.A1910G:p.N637S, chrX 149642019 149642019 A G het . 45 +line56318 synonymous SNV MAMLD1:NM_001177465:exon5:c.C2193T:p.C731C, chrX 149680539 149680539 C T het . 3 +line56319 synonymous SNV MAMLD1:NM_001177465:exon5:c.C2208T:p.S736S, chrX 149680554 149680554 C T het . 6 +line56328 synonymous SNV MTMR1:NM_001353995:exon16:c.C1620T:p.G540G,MTMR1:NM_001353991:exon16:c.C1620T:p.G540G,MTMR1:NM_001353990:exon16:c.C1953T:p.G651G,MTMR1:NM_001353996:exon15:c.C1620T:p.G540G,MTMR1:NM_001353994:exon16:c.C1620T:p.G540G,MTMR1:NM_001353992:exon17:c.C1620T:p.G540G,MTMR1:NM_001353993:exon15:c.C1620T:p.G540G,MTMR1:NM_001306144:exon16:c.C1926T:p.G642G,MTMR1:NM_003828:exon15:c.C1902T:p.G634G, chrX 149931106 149931106 C T het . 14 +line56334 nonsynonymous SNV HMGB3:NM_001301231:exon3:c.C335A:p.A112D,HMGB3:NM_005342:exon3:c.C275A:p.A92D,HMGB3:NM_001301229:exon3:c.C275A:p.A92D,HMGB3:NM_001301228:exon3:c.C275A:p.A92D, chrX 150154648 150154648 C A het . 10 +line56343 nonframeshift deletion GPR50:NM_004224:exon2:c.1503_1514del:p.501_505del, chrX 150349558 150349569 CACCACTGGCCA - het . 16 +line56344 nonsynonymous SNV GPR50:NM_004224:exon2:c.A1594G:p.T532A, chrX 150349649 150349649 A G het . 15 +line56345 nonsynonymous SNV GPR50:NM_004224:exon2:c.A1816G:p.I606V, chrX 150349871 150349871 A G het . 6 +line56371 nonsynonymous SNV PASD1:NM_173493:exon14:c.G1525A:p.V509M, chrX 150840742 150840742 G A het . 29 +line56377 synonymous SNV MAGEA4:NM_002362:exon3:c.A84G:p.A28A,MAGEA4:NM_001011549:exon3:c.A84G:p.A28A,MAGEA4:NM_001011550:exon3:c.A84G:p.A28A,MAGEA4:NM_001011548:exon3:c.A84G:p.A28A, chrX 151092220 151092220 A G het . 10 +line56378 nonsynonymous SNV MAGEA4:NM_002362:exon3:c.G517A:p.A173T,MAGEA4:NM_001011549:exon3:c.G517A:p.A173T,MAGEA4:NM_001011550:exon3:c.G517A:p.A173T,MAGEA4:NM_001011548:exon3:c.G517A:p.A173T, chrX 151092653 151092653 G A het . 28 +line56391 nonsynonymous SNV MAGEA10:NM_021048:exon4:c.G700A:p.V234I,MAGEA10:NM_001011543:exon5:c.G700A:p.V234I,MAGEA10:NM_001251828:exon5:c.G700A:p.V234I, chrX 151303393 151303393 C T het . 9 +line56392 nonsynonymous SNV MAGEA10:NM_021048:exon4:c.G497A:p.R166K,MAGEA10:NM_001011543:exon5:c.G497A:p.R166K,MAGEA10:NM_001251828:exon5:c.G497A:p.R166K, chrX 151303596 151303596 C T het . 27 +line56398 nonsynonymous SNV GABRQ:NM_018558:exon9:c.T1432A:p.F478I, chrX 151821277 151821277 T A het . 14 +line56399 nonsynonymous SNV MAGEA6:NM_175868:exon3:c.G455T:p.S152I,MAGEA6:NM_005363:exon3:c.G455T:p.S152I, chrX 151869765 151869765 G T het . 16 +line56404 synonymous SNV MAGEA12:NM_001166386:exon3:c.A888G:p.G296G,MAGEA12:NM_005367:exon2:c.A888G:p.G296G,MAGEA12:NM_001166387:exon3:c.A888G:p.G296G, chrX 151899913 151899913 T C het . 20 +line56405 nonframeshift substitution CSAG1:NM_001102576:exon3:c.83_84TG,CSAG1:NM_153478:exon4:c.83_84TG, chrX 151908844 151908845 AC TG het . 20 +line56406 nonsynonymous SNV CSAG1:NM_001102576:exon4:c.A185G:p.K62R,CSAG1:NM_153478:exon5:c.A185G:p.K62R, chrX 151909156 151909156 A G het . 25 +line56411 synonymous SNV NSDHL:NM_001129765:exon4:c.T132G:p.G44G,NSDHL:NM_015922:exon3:c.T132G:p.G44G, chrX 152018832 152018832 T G het . 22 +line56418 nonsynonymous SNV PNMA3:NM_013364:exon2:c.T1130C:p.V377A,PNMA3:NM_001282535:exon2:c.T1130C:p.V377A, chrX 152226542 152226542 T C het . 8 +line56429 nonsynonymous SNV HAUS7:NM_017518:exon8:c.G747T:p.Q249H, chrX 152721213 152721213 C A het . 7 +line56434 synonymous SNV BGN:NM_001711:exon2:c.G141A:p.S47S, chrX 152770230 152770230 G A het . 23 +line56444 synonymous SNV ATP2B3:NM_021949:exon9:c.A1473G:p.G491G,ATP2B3:NM_001001344:exon9:c.A1473G:p.G491G, chrX 152815089 152815089 A G het . 18 +line56447 synonymous SNV ATP2B3:NM_021949:exon15:c.G2592C:p.V864V,ATP2B3:NM_001001344:exon15:c.G2592C:p.V864V, chrX 152823728 152823728 G C het . 8 +line56453 unknown UNKNOWN chrX 152864513 152864513 - C het . 2 +line56462 synonymous SNV PNCK:NM_001039582:exon11:c.C1206T:p.G402G,PNCK:NM_001135740:exon11:c.C1008T:p.G336G, chrX 152935987 152935987 G A het . 13 +line56472 nonsynonymous SNV PLXNB3:NM_005393:exon20:c.G3468C:p.E1156D,PLXNB3:NM_001163257:exon21:c.G3537C:p.E1179D, chrX 153039502 153039502 G C het . 3 +line56474 nonsynonymous SNV PLXNB3:NM_005393:exon27:c.T4604C:p.M1535T,PLXNB3:NM_001163257:exon28:c.T4673C:p.M1558T, chrX 153041544 153041544 T C het . 6 +line56477 synonymous SNV SRPK3:NM_014370:exon10:c.A1014G:p.P338P,SRPK3:NM_001170760:exon10:c.A1011G:p.P337P, chrX 153049535 153049535 A G het . 10 +line56499 synonymous SNV AVPR2:NM_000054:exon4:c.A927G:p.L309L, chrX 153171993 153171993 A G het . 3 +line56501 synonymous SNV ARHGAP4:NM_001666:exon15:c.T1716C:p.H572H,ARHGAP4:NM_001164741:exon16:c.T1836C:p.H612H, chrX 153176254 153176254 A G het . 3 +line56508 synonymous SNV HCFC1:NM_005334:exon24:c.C5859T:p.C1953C, chrX 153215839 153215839 G A het . 4 +line56513 nonsynonymous SNV IRAK1:NM_001025243:exon11:c.C1358T:p.S453L,IRAK1:NM_001569:exon12:c.C1595T:p.S532L, chrX 153278829 153278829 G A het . 4 +line56515 nonsynonymous SNV IRAK1:NM_001025242:exon5:c.T587C:p.F196S,IRAK1:NM_001025243:exon5:c.T587C:p.F196S,IRAK1:NM_001569:exon5:c.T587C:p.F196S, chrX 153284192 153284192 A G het . 11 +line56516 synonymous SNV IRAK1:NM_001025242:exon4:c.C483T:p.V161V,IRAK1:NM_001025243:exon4:c.C483T:p.V161V,IRAK1:NM_001569:exon4:c.C483T:p.V161V, chrX 153284483 153284483 G A het . 5 +line56523 synonymous SNV DNASE1L1:NM_001009934:exon3:c.C201G:p.P67P,DNASE1L1:NM_001009932:exon5:c.C201G:p.P67P,DNASE1L1:NM_001303620:exon3:c.C201G:p.P67P,DNASE1L1:NM_006730:exon3:c.C201G:p.P67P,DNASE1L1:NM_001009933:exon4:c.C201G:p.P67P, chrX 153633359 153633359 G C het . 14 +line56528 synonymous SNV ATP6AP1:NM_001183:exon1:c.A45G:p.R15R, chrX 153657083 153657083 A G het . 10 +line56537 synonymous SNV DKC1:NM_001363:exon5:c.G369T:p.T123T,DKC1:NM_001288747:exon5:c.G369T:p.T123T,DKC1:NM_001142463:exon5:c.G369T:p.T123T, chrX 153994596 153994596 G T het . 18 +line56540 nonsynonymous SNV DKC1:NM_001363:exon10:c.C991A:p.Q331K,DKC1:NM_001288747:exon10:c.C991A:p.Q331K,DKC1:NM_001142463:exon10:c.C991A:p.Q331K, chrX 153999109 153999109 C A het . 26 +line56541 nonframeshift deletion DKC1:NM_001363:exon15:c.1492_1494del:p.498_498del,DKC1:NM_001142463:exon15:c.1477_1479del:p.493_493del, chrX 154005089 154005091 AAG - het . 22 +line56544 synonymous SNV MPP1:NM_001166462:exon4:c.G165T:p.T55T,MPP1:NM_001166460:exon3:c.G204T:p.T68T,MPP1:NM_002436:exon3:c.G255T:p.T85T,MPP1:NM_001166461:exon3:c.G255T:p.T85T, chrX 154020114 154020114 C A het . 17 +line56546 nonsynonymous SNV F8:NM_019863:exon5:c.C518T:p.S173F,F8:NM_000132:exon26:c.C6923T:p.S2308F, chrX 154066005 154066005 G A het . 21 +line56553 nonsynonymous SNV F8:NM_000132:exon11:c.G1600T:p.V534L, chrX 154185384 154185384 C A het . 30 +line56559 nonsynonymous SNV VBP1:NM_001303545:exon4:c.A256G:p.M86V,VBP1:NM_001303543:exon4:c.A475G:p.M159V,VBP1:NM_003372:exon4:c.A367G:p.M123V,VBP1:NM_001303544:exon5:c.A352G:p.M118V, chrX 154456747 154456747 A G het . 16 +line56857 nonsynonymous SNV CD24:NM_001359084:exon1:c.C170T:p.A57V,CD24:NM_001291739:exon1:c.C103T:p.R35W,CD24:NM_013230:exon1:c.C170T:p.A57V,CD24:NM_001291737:exon1:c.C170T:p.A57V,CD24:NM_001291738:exon2:c.C170T:p.A57V, chrY 21154426 21154426 G A het . 24 +line56858 nonsynonymous SNV CD24:NM_001359084:exon1:c.A130T:p.T44S,CD24:NM_013230:exon1:c.A130T:p.T44S,CD24:NM_001291737:exon1:c.A130T:p.T44S,CD24:NM_001291738:exon2:c.A130T:p.T44S, chrY 21154466 21154466 T A het . 18 +line56859 synonymous SNV CD24:NM_001359084:exon1:c.T27C:p.L9L,CD24:NM_013230:exon1:c.T27C:p.L9L,CD24:NM_001291737:exon1:c.T27C:p.L9L,CD24:NM_001291738:exon2:c.T27C:p.L9L, chrY 21154569 21154569 A G het . 2 diff --git a/Validation/7_Annovar/annovar_66_germ_out1.variant_function b/Validation/7_Annovar/annovar_66_germ_out1.variant_function new file mode 100644 index 0000000..b1badc9 --- /dev/null +++ b/Validation/7_Annovar/annovar_66_germ_out1.variant_function @@ -0,0 +1,59528 @@ +upstream RNR1(dist=577) chrM 73 73 G A het . 57 +upstream RNR1(dist=557) chrM 93 93 A G het . 52 +upstream RNR1(dist=500) chrM 150 150 T C het . 53 +upstream RNR1(dist=348) chrM 302 302 - C het . 25 +upstream RNR1(dist=240) chrM 410 410 A T het . 42 +ncRNA_exonic RNR2 chrM 2354 2354 C T het . 56 +ncRNA_exonic RNR2 chrM 2485 2485 C T het . 9 +ncRNA_exonic RNR2 chrM 2708 2708 G A het . 91 +intergenic RNR2(dist=4416),NONE(dist=NONE) chrM 7646 7646 T C het . 10 +intergenic RNR2(dist=5219),NONE(dist=NONE) chrM 8449 8449 T C het . 57 +intergenic RNR2(dist=5343),NONE(dist=NONE) chrM 8573 8573 G A het . 9 +intergenic RNR2(dist=5472),NONE(dist=NONE) chrM 8702 8702 G A het . 46 +intergenic RNR2(dist=6311),NONE(dist=NONE) chrM 9541 9541 C T het . 41 +intergenic RNR2(dist=6316),NONE(dist=NONE) chrM 9546 9546 A C het . 40 +intergenic RNR2(dist=6321),NONE(dist=NONE) chrM 9551 9551 A C het . 39 +intergenic RNR2(dist=6331),NONE(dist=NONE) chrM 9561 9561 A C het . 37 +intergenic RNR2(dist=7169),NONE(dist=NONE) chrM 10399 10399 G A het . 33 +intergenic RNR2(dist=7590),NONE(dist=NONE) chrM 10820 10820 G A het . 21 +intergenic RNR2(dist=7644),NONE(dist=NONE) chrM 10874 10874 C T het . 53 +intergenic RNR2(dist=8490),NONE(dist=NONE) chrM 11720 11720 A G het . 20 +intergenic RNR2(dist=8493),NONE(dist=NONE) chrM 11723 11723 C T het . 18 +intergenic RNR2(dist=9476),NONE(dist=NONE) chrM 12706 12706 T C het . 63 +intergenic RNR2(dist=9621),NONE(dist=NONE) chrM 12851 12851 G A het . 24 +intergenic RNR2(dist=10343),NONE(dist=NONE) chrM 13573 13573 T C het . 38 +intergenic RNR2(dist=10530),NONE(dist=NONE) chrM 13760 13760 G A het . 42 +intergenic RNR2(dist=10775),NONE(dist=NONE) chrM 14005 14005 C A het . 55 +intergenic RNR2(dist=10983),NONE(dist=NONE) chrM 14213 14213 C T het . 17 +intergenic RNR2(dist=11351),NONE(dist=NONE) chrM 14581 14581 G A het . 29 +intergenic RNR2(dist=11537),NONE(dist=NONE) chrM 14767 14767 T C het . 57 +intergenic RNR2(dist=11676),NONE(dist=NONE) chrM 14906 14906 A G het . 28 +intergenic RNR2(dist=12072),NONE(dist=NONE) chrM 15302 15302 A G het . 50 +intergenic RNR2(dist=12703),NONE(dist=NONE) chrM 15933 15933 C T het . 55 +intergenic RNR2(dist=12943),NONE(dist=NONE) chrM 16173 16173 C T het . 52 +intergenic RNR2(dist=12954),NONE(dist=NONE) chrM 16184 16184 C - het . 53 +intergenic RNR2(dist=12955),NONE(dist=NONE) chrM 16185 16185 C A het . 52 +intergenic RNR2(dist=12961),NONE(dist=NONE) chrM 16191 16191 C T het . 55 +intergenic RNR2(dist=12995),NONE(dist=NONE) chrM 16225 16225 T C het . 60 +intergenic RNR2(dist=13083),NONE(dist=NONE) chrM 16313 16313 T C het . 38 +intergenic RNR2(dist=13092),NONE(dist=NONE) chrM 16322 16322 T C het . 42 +intronic NOC2L chr1 884101 884101 A C het . 2 +exonic PERM1 chr1 914839 914839 C T het . 3 +exonic PERM1 chr1 914852 914852 G C het . 5 +exonic PERM1 chr1 914876 914876 T C het . 14 +intronic AGRN chr1 970550 970551 GG - het . 2 +intronic AGRN chr1 976514 976514 C A het . 2 +intronic AGRN chr1 978857 978857 T G het . 17 +intronic AGRN chr1 978862 978862 T G het . 16 +intronic AGRN chr1 978868 978868 T G het . 15 +intronic AGRN chr1 988932 988932 G C het . 4 +UTR3 AGRN(NM_001305275:c.*100C>A,NM_198576:c.*100C>A,NM_001364727:c.*100C>A) chr1 990461 990461 C A het . 19 +intronic ACAP3 chr1 1235460 1235460 G A het . 5 +UTR3 MXRA8(NM_032348:c.*401G>C,NM_001282583:c.*401G>C,NM_001282582:c.*401G>C,NM_001282585:c.*98G>C,NM_001282584:c.*401G>C) chr1 1288583 1288583 C G het . 3 +intronic CCNL2 chr1 1323144 1323145 CT - het . 6 +intronic CCNL2 chr1 1323946 1323947 TC - het . 3 +ncRNA_intronic LOC148413 chr1 1335790 1335790 A G het . 2 +ncRNA_intronic LOC148413 chr1 1335796 1335796 C A het . 1 +intronic ATAD3B chr1 1418531 1418531 G A het . 4 +exonic MIB2 chr1 1558792 1558792 T C het . 4 +intronic CDK11B chr1 1588717 1588717 G A het . 28 +intronic CDK11B chr1 1588737 1588737 C T het . 12 +intronic CDK11A,CDK11B chr1 1647686 1647686 A C het . 3 +intronic CDK11A,CDK11B chr1 1647745 1647745 G A het . 7 +intronic CDK11A,CDK11B chr1 1647753 1647753 C T het . 7 +intronic CDK11A,CDK11B chr1 1647778 1647778 C G het . 14 +exonic CDK11A,CDK11B chr1 1650787 1650787 T C het . 19 +exonic CDK11A,CDK11B chr1 1650797 1650797 A G het . 21 +exonic CDK11A,CDK11B chr1 1650801 1650801 T C het . 20 +exonic CDK11A,CDK11B chr1 1650807 1650807 T C het . 18 +exonic CDK11A,CDK11B chr1 1650832 1650832 A G het . 19 +intronic CDK11A,CDK11B chr1 1653885 1653885 C A het . 8 +intronic SLC35E2A chr1 1669734 1669734 G T het . 8 +intronic SLC35E2A chr1 1669748 1669748 A G het . 11 +exonic NADK chr1 1688606 1688606 C G het . 8 +intronic NADK chr1 1695075 1695075 G A het . 2 +intronic GNB1 chr1 1795774 1795776 AAG - het . 2 +UTR3 CFAP74(NM_001304360:c.*110_*111insTCAG) chr1 1853615 1853615 - CTGA het . 1 +intronic CFAP74 chr1 1884029 1884029 - AAAG het . 2 +intronic CFAP74 chr1 1887092 1887092 G - het . 15 +intronic CFAP74 chr1 1887112 1887112 C - het . 25 +intronic CFAP74 chr1 1890544 1890544 C A het . 16 +intronic CFAP74 chr1 1894972 1894972 - A het . 5 +intronic CFAP74 chr1 1894977 1894977 T C het . 5 +intronic CFAP74 chr1 1896223 1896223 C T het . 3 +intronic CFAP74 chr1 1900332 1900332 A G het . 4 +intronic CFAP74 chr1 1900339 1900339 A G het . 5 +intronic CFAP74 chr1 1900364 1900432 CCCTCCTGGGGGCTCCGGTCCTGCCCAGCAGCCCCAGGTGAGACAGCGCCTGGCGGCCCCTCCCTAGCT - het . 2 +intronic CFAP74 chr1 1900445 1900445 C T het . 2 +intergenic CFAP74(dist=7138),GABRD(dist=8354) chr1 1942414 1942414 T C het . 2 +intronic PRKCZ chr1 2082458 2082458 C T het . 9 +intronic PRKCZ chr1 2082478 2082478 C T het . 7 +intronic PRKCZ chr1 2082489 2082489 G A het . 4 +exonic PRKCZ chr1 2116389 2116389 G C het . 20 +intronic SKI chr1 2233312 2233312 A G het . 2 +UTR3 SKI(NM_003036:c.*33A>T) chr1 2238237 2238237 A T het . 5 +intronic MORN1 chr1 2285730 2285730 A G het . 2 +exonic MORN1 chr1 2290143 2290143 G A het . 12 +intronic PLCH2 chr1 2409892 2409892 A G het . 7 +intronic PLCH2 chr1 2420590 2420590 T C het . 3 +intronic TNFRSF14 chr1 2493089 2493089 C A het . 7 +UTR3 TNFRSF14(NM_001297605:c.*227G>A,NM_003820:c.*73G>A) chr1 2494785 2494785 G A het . 5 +exonic MMEL1 chr1 2560819 2560821 CAG - het . 9 +intronic TTC34 chr1 2587202 2587202 C T het . 3 +intergenic TTC34(dist=109379),ACTRT2(dist=122434) chr1 2815609 2815612 AAAC - het . 3 +exonic ACTRT2 chr1 2938963 2938963 T G het . 13 +exonic ACTRT2 chr1 2938989 2938989 G A het . 12 +intronic PRDM16 chr1 3334598 3334598 C T het . 1 +intronic PRDM16 chr1 3342109 3342109 G T het . 5 +exonic ARHGEF16 chr1 3383898 3383898 A G het . 7 +intronic ARHGEF16 chr1 3389927 3389927 G T het . 7 +exonic ARHGEF16 chr1 3394456 3394456 T C het . 14 +intronic ARHGEF16 chr1 3395229 3395229 T C het . 1 +intronic ARHGEF16 chr1 3395237 3395237 G T het . 1 +UTR3 ARHGEF16(NM_014448:c.*37T>C) chr1 3397188 3397188 T C het . 5 +downstream MEGF6(dist=521) chr1 3403985 3403985 A C het . 2 +downstream MEGF6(dist=517) chr1 3403989 3403989 T G het . 2 +intronic MEGF6 chr1 3520672 3520672 A C het . 2 +UTR3 TPRG1L(NM_182752:c.*9_*27delTTCTGGGAGCTCCTCCCCC) chr1 3545176 3545194 TTCTGGGAGCTCCTCCCCC - het . 5 +intronic TP73 chr1 3646214 3646214 T C het . 7 +exonic CCDC27 chr1 3680345 3680345 C T het . 22 +intronic LRRC47 chr1 3700537 3700537 A C het . 5 +intronic CEP104 chr1 3768829 3768829 A C het . 3 +intronic DFFB chr1 3788978 3788978 - A het . 10 +intergenic LINC01777(dist=93802),LINC01646(dist=53001) chr1 4578546 4578546 G A het . 2 +intergenic LINC01777(dist=112007),LINC01646(dist=34796) chr1 4596751 4596751 A C het . 2 +intergenic AJAP1(dist=60889),MIR4689(dist=1017992) chr1 4904740 4904740 C G het . 2 +intergenic AJAP1(dist=122179),MIR4689(dist=956702) chr1 4966030 4966030 C T het . 2 +intergenic AJAP1(dist=307394),MIR4689(dist=771487) chr1 5151245 5151245 C T het . 1 +intergenic AJAP1(dist=582736),MIR4689(dist=496145) chr1 5426587 5426587 T C het . 2 +intergenic AJAP1(dist=791465),MIR4689(dist=287416) chr1 5635316 5635316 A C het . 2 +intergenic AJAP1(dist=794547),MIR4689(dist=284334) chr1 5638398 5638398 C A het . 1 +intergenic AJAP1(dist=847853),MIR4689(dist=231028) chr1 5691704 5691704 T G het . 2 +intergenic AJAP1(dist=889533),MIR4689(dist=189348) chr1 5733384 5733384 C T het . 3 +intergenic AJAP1(dist=889548),MIR4689(dist=189333) chr1 5733399 5733399 T G het . 4 +intergenic AJAP1(dist=1058410),MIR4689(dist=20471) chr1 5902261 5902261 G A het . 1 +intronic NPHP4 chr1 5925040 5925040 G A het . 4 +exonic NPHP4 chr1 5926507 5926507 T C het . 20 +intronic NPHP4 chr1 5927738 5927738 G A het . 5 +exonic NPHP4 chr1 5927943 5927943 G A het . 16 +intronic NPHP4 chr1 5939544 5939544 T G het . 14 +intronic NPHP4 chr1 6027336 6027336 C T het . 6 +intronic NPHP4 chr1 6029087 6029087 A - het . 5 +intronic KCNAB2 chr1 6150432 6150432 A C het . 8 +intronic CHD5 chr1 6184192 6184192 A G het . 6 +intronic CHD5 chr1 6196943 6196943 A G het . 4 +intronic CHD5 chr1 6196951 6196951 T A het . 4 +exonic CHD5 chr1 6206764 6206764 C A het . 6 +exonic RPL22 chr1 6257809 6257809 A G het . 23 +UTR5 RPL22(NM_000983:c.-38G>T) chr1 6259671 6259671 C A het . 13 +intronic RNF207 chr1 6266793 6266793 G C het . 4 +exonic RNF207 chr1 6279365 6279365 G A het . 15 +intronic ACOT7 chr1 6342795 6342795 C T het . 13 +UTR3 TNFRSF25(NM_001039664:c.*17G>T) chr1 6524414 6524414 C A het . 9 +UTR5;UTR3 TNFRSF25(NM_148970:c.-8G>T,NM_148967:c.-8G>T,NM_148966:c.-8G>T,NM_148965:c.-8G>T,NM_003790:c.-8G>T,NM_001039664:c.-8G>T);PLEKHG5(NM_020631:c.*1448G>T,NM_001042663:c.*1448G>T,NM_001042664:c.*1448G>T,NM_001042665:c.*1448G>T,NM_001265592:c.*1448G>T,NM_001265593:c.*1448G>T,NM_001265594:c.*1476G>T,NM_198681:c.*1448G>T) chr1 6526175 6526175 C A het . 5 +intronic PLEKHG5 chr1 6530965 6530965 - G het . 8 +exonic PLEKHG5 chr1 6536011 6536013 CTC - het . 22 +UTR5 PLEKHG5(NM_198681:c.-36G>A) chr1 6579607 6579607 C T het . 24 +UTR3 NOL9(NM_024654:c.*110G>A) chr1 6585804 6585804 C T het . 3 +intronic NOL9 chr1 6586070 6586070 C T het . 19 +intronic NOL9 chr1 6608057 6608057 G C het . 2 +intronic NOL9 chr1 6609548 6609548 C A het . 9 +intronic NOL9 chr1 6609553 6609553 C A het . 9 +intronic NOL9 chr1 6609559 6609559 C A het . 11 +intronic NOL9 chr1 6609851 6609851 A G het . 4 +intronic NOL9 chr1 6609896 6609896 G A het . 2 +intronic NOL9 chr1 6610366 6610366 T C het . 6 +intronic NOL9 chr1 6610382 6610382 C T het . 10 +UTR5 NOL9(NM_024654:c.-91G>C) chr1 6614653 6614653 C G het . 4 +intronic DNAJC11 chr1 6700132 6700133 AA - het . 4 +intronic CAMTA1 chr1 6946516 6946516 G A het . 12 +intronic CAMTA1 chr1 6989407 6989407 T - het . 3 +intronic CAMTA1 chr1 7007980 7007980 C T het . 3 +intronic CAMTA1 chr1 7050865 7050865 - TA het . 1 +intronic CAMTA1 chr1 7217445 7217445 - A het . 2 +intronic CAMTA1 chr1 7252366 7252367 CG TA het . 2 +intronic CAMTA1 chr1 7335224 7335224 G A het . 2 +exonic CAMTA1 chr1 7723683 7723683 C T het . 8 +intronic CAMTA1 chr1 7730951 7730951 C A het . 3 +intronic CAMTA1 chr1 7809600 7809600 A - het . 3 +exonic PER3 chr1 7886642 7886642 T C het . 44 +intergenic PER3(dist=1236),UTS2(dist=1196) chr1 7906476 7906476 G T het . 22 +downstream UTS2(dist=813) chr1 7906859 7906859 - AAGA het . 15 +intergenic UTS2(dist=60096),TNFRSF9(dist=2284) chr1 7973647 7973647 - TTTGTTGTTG het . 3 +intronic TNFRSF9 chr1 7989218 7989218 C T het . 2 +intronic PARK7 chr1 8022801 8022803 TTT - het . 11 +intergenic ERRFI1(dist=126183),LINC01714(dist=56156) chr1 8212576 8212576 G T het . 2 +intergenic ERRFI1(dist=126197),LINC01714(dist=56142) chr1 8212590 8212590 A G het . 1 +intergenic LINC01714(dist=95903),SLC45A1(dist=6974) chr1 8371171 8371171 G A het . 3 +intergenic LINC01714(dist=95910),SLC45A1(dist=6967) chr1 8371178 8371178 A C het . 3 +intronic SLC45A1 chr1 8385485 8385485 - A het . 6 +exonic SLC45A1 chr1 8390480 8390480 G A het . 12 +exonic SLC45A1 chr1 8390495 8390495 A G het . 14 +intronic SLC45A1 chr1 8402887 8402887 A G het . 1 +intronic RERE chr1 8691879 8691879 T C het . 2 +intronic RERE chr1 8717382 8717382 G - het . 2 +intronic RERE chr1 8751268 8751268 C T het . 1 +intergenic RERE(dist=16658),ENO1(dist=26702) chr1 8894357 8894357 A T het . 2 +exonic CA6 chr1 9009470 9009470 G C het . 3 +intronic SLC2A7 chr1 9063602 9063602 G C het . 23 +intergenic SLC2A5(dist=5221),GPR157(dist=26969) chr1 9137507 9137507 C A het . 3 +intronic GPR157 chr1 9174154 9174154 A G het . 3 +intergenic LNCTAM34A(dist=21265),H6PD(dist=21454) chr1 9273409 9273409 C A het . 2 +intergenic LNCTAM34A(dist=21284),H6PD(dist=21435) chr1 9273428 9273428 G A het . 2 +intergenic SPSB1(dist=10669),LOC100506022(dist=44892) chr1 9440259 9440261 AAC - het . 4 +intergenic SPSB1(dist=10686),LOC100506022(dist=44875) chr1 9440276 9440278 GAG - het . 4 +intergenic LOC100506022(dist=54868),SLC25A33(dist=55605) chr1 9543923 9543923 C T het . 1 +intergenic LOC100506022(dist=78322),SLC25A33(dist=32151) chr1 9567377 9567377 C T het . 2 +intronic TMEM201 chr1 9658707 9658707 G A het . 3 +intergenic TMEM201(dist=10172),PIK3CD(dist=26682) chr1 9685107 9685107 T G het . 2 +intronic PIK3CD chr1 9770691 9770692 AG - het . 13 +intronic PIK3CD chr1 9770714 9770714 C G het . 14 +intronic CLSTN1 chr1 9794982 9794982 C T het . 8 +intronic CLSTN1 chr1 9824157 9824160 AGAA - het . 2 +UTR3 NMNAT1(NM_001297778:c.*383G>A,NM_022787:c.*383G>A) chr1 10043142 10043142 G A het . 2 +intronic UBE4B chr1 10132438 10132438 T - het . 10 +exonic UBE4B chr1 10195082 10195082 C A het . 20 +intronic KIF1B chr1 10335315 10335315 G A het . 16 +intronic KIF1B chr1 10352223 10352223 T C het . 35 +intronic KIF1B chr1 10356870 10356870 C T het . 15 +intronic KIF1B chr1 10357207 10357207 T - het . 22 +intronic KIF1B chr1 10402010 10402013 AAAA - het . 8 +intronic KIF1B chr1 10408017 10408017 T - het . 9 +intronic KIF1B chr1 10425064 10425064 A - het . 10 +intronic PGD chr1 10475003 10475003 C A het . 2 +intronic PGD chr1 10478857 10478857 C G het . 3 +UTR5 CENPS(NM_199294:c.-43C>T),CENPS-CORT(NM_199006:c.-43C>T,NM_198544:c.-43C>T,NM_001270517:c.-43C>T) chr1 10490532 10490532 C T het . 8 +intronic CENPS,CENPS-CORT chr1 10496602 10496602 A - het . 3 +intronic CENPS,CENPS-CORT chr1 10496623 10496623 C T het . 3 +exonic CENPS-CORT,CORT chr1 10511589 10511589 T C het . 11 +intronic PEX14 chr1 10555516 10555516 G - het . 7 +intronic PEX14 chr1 10596022 10596022 C T het . 6 +intronic CASZ1 chr1 10703203 10703203 - C het . 7 +intronic CASZ1 chr1 10719645 10719645 A G het . 2 +exonic CASZ1 chr1 10720305 10720305 A G het . 20 +intronic CASZ1 chr1 10845283 10845283 - CTTT het . 2 +exonic TARDBP chr1 11080512 11080512 C G het . 18 +intronic TARDBP chr1 11081210 11081210 T A het . 1 +exonic MASP2 chr1 11090916 11090916 C A het . 8 +UTR3 MASP2(NM_139208:c.*16C>T) chr1 11104981 11104981 G A het . 10 +intronic EXOSC10 chr1 11126941 11126941 C T het . 9 +intronic EXOSC10 chr1 11140622 11140622 C A het . 4 +intronic MTOR chr1 11292753 11292753 A G het . 3 +intronic MTOR chr1 11292952 11292952 T A het . 8 +intronic UBIAD1 chr1 11345658 11345658 C T het . 16 +intergenic UBIAD1(dist=89803),DISP3(dist=89864) chr1 11449431 11449431 C T het . 2 +intergenic UBIAD1(dist=93362),DISP3(dist=86305) chr1 11452990 11452990 A G het . 1 +intronic DISP3 chr1 11593798 11593798 - CACGCACGCACC het . 3 +intergenic DISP3(dist=70394),LINC01647(dist=1554) chr1 11668034 11668034 T G het . 1 +intergenic LINC01647(dist=1614),FBXO2(dist=33393) chr1 11675025 11675025 C A het . 2 +intergenic LINC01647(dist=1648),FBXO2(dist=33359) chr1 11675059 11675059 T G het . 2 +intronic FBXO2 chr1 11714368 11714368 T G het . 6 +UTR5 AGTRAP(NM_020350:c.-97_-93del-,NM_001040197:c.-97_-93del-,NM_001040196:c.-97_-93del-,NM_001040195:c.-97_-93del-,NM_001040194:c.-97_-93del-) chr1 11796169 11796173 GGGCG - het . 6 +intronic C1orf167 chr1 11827180 11827180 A G het . 2 +exonic C1orf167 chr1 11838848 11838848 G T het . 7 +intronic C1orf167 chr1 11841945 11841945 T C het . 1 +exonic C1orf167 chr1 11844330 11844330 C T het . 5 +intronic PLOD1 chr1 12018564 12018564 C G het . 27 +intronic PLOD1 chr1 12034676 12034676 T G het . 23 +exonic MFN2 chr1 12052673 12052673 A G het . 36 +UTR3 MFN2(NM_001127660:c.*19T>G,NM_014874:c.*19T>G) chr1 12071641 12071641 T G het . 18 +upstream MIIP(dist=42) chr1 12079257 12079257 T C het . 2 +intronic VPS13D chr1 12364835 12364835 G T het . 4 +intronic VPS13D chr1 12368706 12368707 TT - het . 6 +intronic VPS13D chr1 12383564 12383564 C A het . 6 +intronic VPS13D chr1 12383750 12383750 A C het . 29 +intronic VPS13D chr1 12405387 12405387 C A het . 7 +intronic VPS13D chr1 12418700 12418700 T C het . 2 +exonic VPS13D chr1 12475143 12475143 C A het . 19 +intronic VPS13D chr1 12475356 12475356 C A het . 18 +intergenic DHRS3(dist=3365),AADACL4(dist=23464) chr1 12681102 12681102 T C het . 2 +exonic AADACL4 chr1 12704586 12704586 G A het . 5 +intergenic AADACL4(dist=26725),AADACL3(dist=22291) chr1 12753822 12753827 TTTTTT - het . 2 +intronic C1orf158 chr1 12817301 12817301 T - het . 2 +intronic C1orf158 chr1 12817324 12817324 - T het . 2 +intergenic PRAMEF1(dist=14573),LINC01784(dist=11199) chr1 12871350 12871350 C - het . 2 +intergenic PRAMEF1(dist=15079),LINC01784(dist=10693) chr1 12871856 12871856 T - het . 2 +intergenic PRAMEF1(dist=15087),LINC01784(dist=10685) chr1 12871864 12871864 T A het . 2 +intergenic PRAMEF11(dist=6681),HNRNPCL3(dist=9285) chr1 12897945 12897945 G A het . 5 +exonic PRAMEF27,PRAMEF6,PRAMEF9 chr1 13001256 13001256 C T het . 6 +intergenic PRAMEF36P(dist=13426),HNRNPCL2(dist=2341) chr1 13180619 13180619 G A het . 1 +intergenic PRAMEF36P(dist=13550),HNRNPCL2(dist=2217) chr1 13180743 13180743 T C het . 2 +intergenic PRAMEF36P(dist=13576),HNRNPCL2(dist=2191) chr1 13180769 13180769 - T het . 2 +intergenic PRAMEF36P(dist=13579),HNRNPCL2(dist=2188) chr1 13180772 13180772 C T het . 2 +downstream HNRNPCL2(dist=131) chr1 13182829 13182829 A G het . 2 +intergenic HNRNPCL2(dist=2512),PRAMEF36P(dist=7680) chr1 13186838 13186838 A G het . 1 +intergenic HNRNPCL2(dist=2514),PRAMEF36P(dist=7678) chr1 13186840 13186840 A G het . 2 +intergenic HNRNPCL2(dist=2522),PRAMEF36P(dist=7669) chr1 13186848 13186849 AT CG het . 2 +intergenic HNRNPCL2(dist=2543),PRAMEF36P(dist=7648) chr1 13186869 13186870 TG CA het . 2 +intergenic HNRNPCL2(dist=2551),PRAMEF36P(dist=7641) chr1 13186877 13186877 A T het . 2 +intergenic HNRNPCL2(dist=2562),PRAMEF36P(dist=7630) chr1 13186888 13186888 T C het . 2 +intergenic HNRNPCL2(dist=2565),PRAMEF36P(dist=7627) chr1 13186891 13186891 C A het . 2 +intergenic HNRNPCL2(dist=2572),PRAMEF36P(dist=7620) chr1 13186898 13186898 C T het . 1 +intronic PRAMEF18,PRAMEF22 chr1 13345461 13345461 A G het . 2 +exonic PRDM2 chr1 14105139 14105139 T A het . 14 +exonic PRDM2 chr1 14106394 14106394 - CTC het . 23 +intronic PRDM2 chr1 14109409 14109409 T - het . 14 +intergenic PRDM2(dist=19746),KAZN-AS1(dist=504130) chr1 14171320 14171320 G T het . 3 +intergenic PRDM2(dist=448060),KAZN-AS1(dist=75816) chr1 14599634 14599634 T C het . 2 +intergenic PRDM2(dist=518086),KAZN-AS1(dist=5790) chr1 14669660 14669660 A G het . 5 +intronic KAZN chr1 14959413 14959416 TTTA - het . 2 +ncRNA_intronic TMEM51-AS1 chr1 15466112 15466112 - AAAAAAAAAAAAAAA het . 2 +intronic TMEM51 chr1 15479900 15479900 T C het . 1 +intronic TMEM51 chr1 15522298 15522298 C T het . 1 +intergenic TMEM51(dist=19127),FHAD1(dist=7618) chr1 15566103 15566103 C A het . 2 +intronic FHAD1 chr1 15608753 15608753 G A het . 2 +intronic FHAD1 chr1 15702566 15702577 TTTATTTATTTT - het . 2 +intronic CELA2A chr1 15788269 15788269 A C het . 5 +intronic CELA2A chr1 15788817 15788817 G C het . 8 +intronic CASP9 chr1 15831783 15831783 T C het . 2 +intronic DNAJC16 chr1 15859483 15859483 G C het . 1 +intergenic AGMAT(dist=8171),DDI2(dist=24177) chr1 15919776 15919776 C A het . 2 +intronic DDI2 chr1 15975348 15975348 C A het . 1 +exonic PLEKHM2 chr1 16042766 16042766 T C het . 13 +intronic PLEKHM2 chr1 16047726 16047726 T C het . 2 +UTR3 UQCRHL(NM_001089591:c.*134T>G) chr1 16133735 16133735 A C het . 4 +exonic SPEN chr1 16258756 16258756 T A het . 10 +exonic HSPB7 chr1 16344402 16344402 G A het . 9 +exonic CLCNKA chr1 16351275 16351275 A G het . 6 +intronic CLCNKA chr1 16358408 16358408 G A het . 3 +intronic CLCNKB chr1 16373200 16373202 CTT - het . 8 +exonic CLCNKB chr1 16375063 16375064 CA GC het . 14 +intronic CLCNKB chr1 16376458 16376458 T C het . 14 +UTR3 CLCNKB(NM_000085:c.*331C>G,NM_001165945:c.*331C>G) chr1 16383742 16383742 C G het . 18 +intergenic FAM131C(dist=22691),EPHA2(dist=28014) chr1 16422818 16422818 A - het . 5 +intergenic EPHA2(dist=23656),ARHGEF19(dist=18089) chr1 16506260 16506260 A G het . 1 +intergenic ARHGEF19(dist=16869),CPLANE2(dist=2147) chr1 16556035 16556035 G T het . 19 +intronic FBXO42 chr1 16609033 16609033 A - het . 2 +intronic FBXO42 chr1 16614947 16614947 A T het . 2 +intronic FBXO42 chr1 16621183 16621183 C T het . 4 +intronic FBXO42 chr1 16650280 16650280 A G het . 2 +intronic SPATA21 chr1 16730582 16730582 C G het . 5 +intronic SPATA21 chr1 16758626 16758626 G T het . 1 +intronic SPATA21 chr1 16758630 16758630 G T het . 1 +intronic NECAP2 chr1 16776804 16776804 C T het . 14 +exonic NBPF1 chr1 16891365 16891365 G A het . 68 +exonic NBPF1 chr1 16895634 16895634 T G het . 2 +intronic NBPF1 chr1 16903780 16903780 C T het . 8 +intronic NBPF1 chr1 16908883 16908883 T A het . 4 +intronic NBPF1 chr1 16908887 16908887 T C het . 4 +intronic NBPF1 chr1 16908914 16908914 G A het . 15 +upstream NBPF1(dist=320) chr1 16940420 16940420 A G het . 3 +upstream NBPF1(dist=353) chr1 16940453 16940453 C T het . 2 +upstream NBPF1(dist=424) chr1 16940524 16940524 T C het . 2 +upstream NBPF1(dist=454) chr1 16940554 16940554 A G het . 4 +intergenic NBPF1(dist=1928),CROCCP2(dist=2723) chr1 16942028 16942028 G A het . 2 +downstream CROCCP2(dist=600) chr1 16944151 16944151 T C het . 2 +ncRNA_intronic CROCCP2 chr1 16953108 16953108 G T het . 2 +ncRNA_intronic CROCCP2 chr1 16953121 16953121 C T het . 3 +ncRNA_intronic CROCCP2 chr1 16953889 16953889 G C het . 2 +ncRNA_exonic CROCCP2 chr1 16954981 16954981 C A het . 13 +ncRNA_intronic CROCCP2 chr1 16955663 16955663 - A het . 3 +upstream CROCCP2(dist=45) chr1 16957446 16957446 T G het . 7 +upstream CROCCP2(dist=582) chr1 16957983 16957983 C T het . 4 +upstream CROCCP2(dist=754) chr1 16958155 16958155 C T het . 3 +upstream CROCCP2(dist=771) chr1 16958172 16958172 C G het . 3 +intergenic CROCCP2(dist=4125),MST1P2(dist=10543) chr1 16961526 16961526 T A het . 2 +intergenic CROCCP2(dist=4134),MST1P2(dist=10534) chr1 16961535 16961535 C G het . 2 +intergenic CROCCP2(dist=4187),MST1P2(dist=10481) chr1 16961588 16961588 A G het . 5 +intergenic CROCCP2(dist=10241),MST1P2(dist=4427) chr1 16967642 16967642 A C het . 3 +downstream MIR3675(dist=605) chr1 17008428 17008428 C A het . 8 +intergenic MIR3675(dist=4886),ESPNP(dist=5004) chr1 17012709 17012709 G A het . 3 +ncRNA_exonic ESPNP chr1 17023376 17023376 C T het . 30 +ncRNA_exonic ESPNP chr1 17023403 17023403 G A het . 35 +ncRNA_intronic ESPNP chr1 17023569 17023569 T C het . 3 +ncRNA_exonic ESPNP chr1 17026043 17026043 - GCA het . 8 +ncRNA_intronic ESPNP chr1 17029513 17029513 C G het . 21 +ncRNA_intronic ESPNP chr1 17029536 17029536 T A het . 17 +ncRNA_exonic ESPNP chr1 17030504 17030504 T A het . 32 +ncRNA_exonic ESPNP chr1 17030515 17030515 G A het . 37 +ncRNA_exonic ESPNP chr1 17030518 17030519 CT TG het . 38 +ncRNA_exonic ESPNP chr1 17030544 17030544 C T het . 54 +ncRNA_exonic ESPNP chr1 17034041 17034041 T C het . 2 +ncRNA_exonic ESPNP chr1 17034125 17034125 - AGCT het . 20 +ncRNA_intronic ESPNP chr1 17034250 17034250 C G het . 3 +ncRNA_intronic ESPNP chr1 17044511 17044511 T C het . 3 +intergenic MST1L(dist=22395),MIR3675(dist=72074) chr1 17113370 17113370 C G het . 2 +intronic CROCC chr1 17249308 17249308 C T het . 8 +intronic CROCC chr1 17249395 17249395 A G het . 2 +exonic CROCC chr1 17263189 17263189 G A het . 13 +intronic CROCC chr1 17271941 17271941 A C het . 4 +intronic CROCC chr1 17272636 17272636 C T het . 3 +intronic CROCC chr1 17274319 17274319 A G het . 4 +intronic CROCC chr1 17274338 17274338 G T het . 3 +intronic ATP13A2 chr1 17313243 17313243 A - het . 9 +intronic ATP13A2 chr1 17313246 17313256 CCAGGGCTCCT - het . 10 +intronic PADI2 chr1 17418883 17418883 A G het . 2 +exonic PADI2 chr1 17419005 17419005 T G het . 5 +intronic PADI3 chr1 17597745 17597745 C T het . 3 +intronic PADI3 chr1 17599149 17599149 A G het . 1 +intronic PADI4 chr1 17672730 17672730 G A het . 1 +intronic PADI6 chr1 17699983 17699983 C A het . 1 +intronic RCC2 chr1 17735727 17735727 G A het . 10 +intergenic RCC2(dist=3432),ARHGEF10L(dist=96648) chr1 17769682 17769682 C A het . 1 +intergenic RCC2(dist=79068),ARHGEF10L(dist=21012) chr1 17845318 17845318 - AAAG het . 2 +intergenic RCC2(dist=88096),ARHGEF10L(dist=11977) chr1 17854346 17854353 TTTCTTTC - het . 2 +intergenic ACTL8(dist=62130),LINC01654(dist=176463) chr1 18215688 18215688 G T het . 5 +intergenic ACTL8(dist=110520),LINC01654(dist=128073) chr1 18264078 18264078 C T het . 2 +intergenic ACTL8(dist=180244),LINC01654(dist=58349) chr1 18333802 18333802 - AAAG het . 4 +intergenic ACTL8(dist=180278),LINC01654(dist=58315) chr1 18333836 18333836 T C het . 3 +intronic IGSF21 chr1 18554345 18554345 T C het . 4 +intronic IGSF21 chr1 18554356 18554356 C T het . 6 +intronic IGSF21 chr1 18633357 18633357 G T het . 1 +intergenic IGSF21(dist=38574),KLHDC7A(dist=63873) chr1 18743551 18743551 G A het . 3 +intergenic IGSF21(dist=93399),KLHDC7A(dist=9047) chr1 18798376 18798377 TT - het . 2 +intergenic KLHDC7A(dist=18282),PAX7(dist=126738) chr1 18830762 18830762 A G het . 2 +intergenic KLHDC7A(dist=105360),PAX7(dist=39660) chr1 18917840 18917840 C T het . 2 +intergenic PAX7(dist=60745),TAS1R2(dist=29988) chr1 19136105 19136105 C T het . 2 +intergenic PAX7(dist=65794),TAS1R2(dist=24939) chr1 19141154 19141154 C G het . 1 +exonic TAS1R2 chr1 19175898 19175898 G A het . 22 +intronic ALDH4A1 chr1 19200908 19200908 G C het . 6 +intronic ALDH4A1 chr1 19208386 19208386 C G het . 21 +intronic ALDH4A1 chr1 19208944 19208944 A G het . 3 +UTR3 IFFO2(NM_001136265:c.*32G>T) chr1 19235023 19235023 C A het . 11 +intergenic IFFO2(dist=64561),UBR4(dist=53604) chr1 19347387 19347396 AAAGAAAAGA - het . 2 +intergenic IFFO2(dist=105187),UBR4(dist=12987) chr1 19388013 19388013 - CAT het . 3 +intronic UBR4 chr1 19405284 19405284 G C het . 2 +intronic UBR4 chr1 19405308 19405308 C A het . 2 +intronic UBR4 chr1 19420392 19420392 G A het . 4 +exonic UBR4 chr1 19420444 19420444 T C het . 5 +exonic UBR4 chr1 19433219 19433219 C A het . 6 +intronic UBR4 chr1 19440107 19440107 A G het . 1 +exonic UBR4 chr1 19440511 19440511 C T het . 16 +intronic UBR4 chr1 19460635 19460635 A T het . 1 +intronic UBR4 chr1 19474930 19474930 C A het . 14 +intronic UBR4 chr1 19486839 19486839 T C het . 8 +intronic UBR4 chr1 19493394 19493394 - A het . 2 +intronic UBR4 chr1 19514155 19514155 - A het . 6 +intronic UBR4 chr1 19526363 19526363 A G het . 4 +intronic EMC1 chr1 19570426 19570426 C G het . 13 +intronic MRTO4 chr1 19578415 19578415 T G het . 11 +intronic PQLC2 chr1 19653148 19653148 G A het . 10 +intronic CAPZB chr1 19772660 19772660 G A het . 2 +intronic CAPZB chr1 19775303 19775303 C G het . 11 +intergenic CAPZB(dist=87149),LOC105378614(dist=19012) chr1 19899284 19899284 G A het . 2 +intergenic CAPZB(dist=87165),LOC105378614(dist=18996) chr1 19899300 19899300 C T het . 2 +intronic TMCO4 chr1 20018590 20018590 A G het . 3 +intronic OTUD3 chr1 20216860 20216860 G A het . 13 +upstream PLA2G5(dist=833) chr1 20395868 20395868 G A het . 2 +exonic PLA2G2D chr1 20442104 20442104 C A het . 17 +intronic PLA2G2D chr1 20442814 20442814 G A het . 9 +intronic VWA5B1 chr1 20631050 20631050 G A het . 2 +ncRNA_intronic PINK1-AS chr1 20972340 20972340 G A het . 8 +intronic KIF17 chr1 20991404 20991404 G C het . 3 +intronic KIF17 chr1 21012525 21012525 G A het . 24 +intronic KIF17 chr1 21018118 21018129 TTTTTTTTTTTT - het . 3 +exonic KIF17 chr1 21031042 21031042 T C het . 29 +exonic KIF17 chr1 21031065 21031065 T C het . 30 +exonic SH2D5 chr1 21054041 21054041 A G het . 15 +intronic HP1BP3 chr1 21099846 21099846 A G het . 3 +intronic HP1BP3 chr1 21106205 21106205 A - het . 5 +exonic EIF4G3 chr1 21133940 21133940 C A het . 14 +intronic EIF4G3 chr1 21188703 21188703 A T het . 7 +intronic EIF4G3 chr1 21307744 21307744 T - het . 7 +intronic EIF4G3 chr1 21486445 21486445 A T het . 2 +UTR5 EIF4G3(NM_001198802:c.-173490_-173492delGGC,NM_001198801:c.-173490_-173492delGGC) chr1 21502725 21502727 GCC - het . 2 +intronic ECE1 chr1 21553514 21553514 G A het . 16 +intergenic ECE1(dist=66200),NBPF3(dist=28349) chr1 21738234 21738234 C A het . 29 +intronic NBPF3 chr1 21806341 21806341 G A het . 2 +intergenic NBPF3(dist=12236),ALPL(dist=12222) chr1 21823629 21823629 C T het . 2 +intronic ALPL chr1 21900146 21900146 C G het . 22 +intronic ALPL chr1 21900151 21900151 T C het . 22 +exonic ALPL chr1 21900171 21900171 A G het . 23 +intronic ALPL chr1 21900396 21900397 AG CT het . 4 +intronic ALPL chr1 21900420 21900420 A G het . 3 +intronic ALPL chr1 21900444 21900444 A G het . 4 +intronic USP48 chr1 22038987 22038987 T C het . 2 +intronic USP48 chr1 22079457 22079457 - A het . 4 +intergenic USP48(dist=1817),LDLRAD2(dist=27247) chr1 22111509 22111511 AAC - het . 2 +intronic HSPG2 chr1 22172434 22172434 C A het . 1 +intronic HSPG2 chr1 22172458 22172458 T C het . 2 +intronic HSPG2 chr1 22178234 22178234 C A het . 23 +intronic HSPG2 chr1 22200835 22200835 C G het . 4 +intronic HSPG2 chr1 22207805 22207817 CCCAGGGTGGCAG - het . 15 +exonic HSPG2 chr1 22211599 22211599 C A het . 6 +intronic HSPG2 chr1 22215088 22215088 T C het . 2 +intronic HSPG2 chr1 22234654 22234654 C T het . 14 +intergenic HSPG2(dist=6474),CELA3B(dist=33123) chr1 22270264 22270264 - C het . 3 +intergenic HSPG2(dist=6475),CELA3B(dist=33122) chr1 22270265 22270265 - AAC het . 3 +intergenic HSPG2(dist=19136),CELA3B(dist=20461) chr1 22282926 22282926 C A het . 1 +intergenic HSPG2(dist=19148),CELA3B(dist=20449) chr1 22282938 22282938 C T het . 2 +exonic CELA3A chr1 22336277 22336277 C G het . 15 +exonic CELA3A chr1 22336305 22336305 C T het . 13 +exonic CELA3A chr1 22336308 22336308 G A het . 13 +intergenic CELA3A(dist=8217),LINC01635(dist=3235) chr1 22347252 22347252 C T het . 3 +intergenic MIR4418(dist=160651),ZBTB40(dist=24900) chr1 22753444 22753444 - G het . 1 +intergenic MIR4418(dist=167217),ZBTB40(dist=18334) chr1 22760010 22760010 - TAAG het . 6 +exonic ZBTB40 chr1 22832679 22832679 C A het . 36 +intronic ZBTB40 chr1 22837587 22837588 TT - het . 5 +exonic ZBTB40 chr1 22838561 22838563 AAG - het . 25 +exonic ZBTB40 chr1 22846681 22846681 C A het . 21 +exonic ZBTB40 chr1 22846709 22846709 G A het . 21 +exonic ZBTB40 chr1 22848935 22848935 C A het . 23 +intronic EPHB2 chr1 23108089 23108089 A G het . 2 +intronic EPHB2 chr1 23191746 23191746 G T het . 9 +exonic LUZP1 chr1 23419261 23419261 G A het . 11 +intergenic HTR1D(dist=32715),LINC01355(dist=53865) chr1 23553937 23553937 A G het . 1 +intronic TCEA3 chr1 23708919 23708919 C A het . 1 +intronic TCEA3 chr1 23710805 23710805 A G het . 6 +intronic ASAP3 chr1 23764149 23764149 C G het . 1 +UTR5 MDS2(NM_001348075:c.-1703G>A) chr1 23954342 23954342 G A het . 34 +exonic GALE chr1 24125169 24125169 C A het . 18 +intronic FUCA1 chr1 24172766 24172767 TT - het . 11 +intronic FUCA1 chr1 24186461 24186461 T - het . 9 +intronic CNR2 chr1 24210567 24210567 - TTTTTG het . 2 +intronic CNR2 chr1 24218125 24218125 - G het . 2 +intronic CNR2 chr1 24229276 24229276 T C het . 3 +intronic CNR2 chr1 24231681 24231681 T - het . 2 +intergenic CNR2(dist=2246),MIR378F(dist=13495) chr1 24242063 24242065 AAA - het . 3 +intronic MYOM3 chr1 24392600 24392600 G A het . 34 +intronic MYOM3 chr1 24400633 24400633 C G het . 6 +intronic MYOM3 chr1 24416628 24416628 T C het . 10 +intronic MYOM3 chr1 24416636 24416636 T G het . 6 +intronic MYOM3 chr1 24416643 24416643 T G het . 2 +exonic IL22RA1 chr1 24463710 24463710 G C het . 13 +intergenic IL22RA1(dist=9094),IFNLR1(dist=1778) chr1 24478869 24478869 C T het . 6 +intergenic IL22RA1(dist=9108),IFNLR1(dist=1764) chr1 24478883 24478883 A - het . 7 +intergenic LOC284632(dist=17536),GRHL3(dist=90096) chr1 24555716 24555716 G A het . 2 +intergenic LOC284632(dist=51815),GRHL3(dist=55817) chr1 24589995 24589995 T - het . 2 +intronic GRHL3 chr1 24657860 24657860 A G het . 3 +exonic GRHL3 chr1 24658063 24658063 C G het . 11 +intronic STPG1 chr1 24706003 24706003 G A het . 4 +intronic NIPAL3 chr1 24780522 24780522 T - het . 10 +intronic NIPAL3 chr1 24786952 24786952 C T het . 8 +exonic NCMAP chr1 24932146 24932146 G T het . 14 +exonic SRRM1 chr1 24996704 24996704 A C het . 6 +intronic CLIC4 chr1 25140825 25140825 A G het . 4 +intronic CLIC4 chr1 25140839 25140839 T C het . 1 +intronic TMEM50A chr1 25679279 25679279 T - het . 8 +exonic RHCE chr1 25729212 25729212 T A het . 23 +intronic MACO1 chr1 25780889 25780889 - TG het . 11 +intronic MACO1 chr1 25780893 25780893 A G het . 11 +intronic MACO1 chr1 25801409 25801409 C T het . 2 +intergenic MACO1(dist=16247),LDLRAP1(dist=27131) chr1 25842945 25842945 A C het . 2 +intronic MAN1C1 chr1 26077570 26077570 G A het . 4 +intronic MAN1C1 chr1 26098333 26098333 G A het . 2 +intronic SELENON chr1 26135448 26135448 A C het . 11 +intronic SELENON chr1 26135454 26135454 A C het . 10 +intronic SELENON chr1 26136452 26136452 A C het . 2 +ncRNA_exonic LOC646471 chr1 26146539 26146539 A C het . 2 +intergenic STMN1(dist=40788),PAFAH2(dist=12102) chr1 26274156 26274156 G A het . 2 +intronic PAFAH2 chr1 26292505 26292505 A T het . 3 +intronic PAFAH2 chr1 26307083 26307083 C T het . 2 +intronic PAFAH2 chr1 26307104 26307104 A T het . 2 +downstream C1orf232,FAM110D(dist=827) chr1 26489825 26489825 T C het . 2 +exonic CNKSR1 chr1 26510311 26510311 C - het . 12 +exonic CATSPER4 chr1 26517183 26517183 G C het . 14 +intronic CATSPER4 chr1 26519090 26519090 - T het . 2 +intronic CATSPER4 chr1 26524401 26524401 A G het . 4 +intronic CEP85 chr1 26563105 26563105 G A het . 2 +UTR5 SH3BGRL3(NM_031286:c.-356C>T) chr1 26606291 26606291 C T het . 7 +intronic UBXN11 chr1 26620846 26620846 - A het . 3 +intronic CD52 chr1 26646612 26646612 A - het . 6 +exonic CD52 chr1 26646726 26646726 A G het . 18 +exonic CD52 chr1 26646730 26646730 A G het . 17 +intronic CRYBG2 chr1 26655462 26655462 C T het . 2 +exonic CRYBG2 chr1 26670609 26670609 C T het . 9 +exonic CRYBG2 chr1 26671523 26671535 AAATGAGGCATCA - het . 3 +exonic CRYBG2 chr1 26671539 26671542 GCAC - het . 3 +exonic CRYBG2 chr1 26671545 26671578 GGGCCCTTCACGACCTCTTTCCAGGTGGGGAACA - het . 3 +UTR3 HMGN2(NM_005517:c.*92G>T) chr1 26801731 26801731 G T het . 5 +intergenic HMGN2(dist=40941),RPS6KA1(dist=12175) chr1 26844074 26844074 G C het . 2 +intronic RPS6KA1 chr1 26879792 26879792 T C het . 3 +intronic ZDHHC18 chr1 27179375 27179375 G T het . 8 +exonic TENT5B chr1 27333043 27333043 C A het . 22 +intronic SLC9A1 chr1 27435976 27435976 C G het . 2 +intergenic SLC9A1(dist=22041),WDTC1(dist=57345) chr1 27503662 27503662 T A het . 11 +intergenic SLC9A1(dist=66557),WDTC1(dist=12829) chr1 27548178 27548178 T A het . 1 +intronic WDTC1 chr1 27594890 27594893 TTTG - het . 2 +intronic WDTC1 chr1 27609980 27609980 T G het . 10 +intronic FCN3 chr1 27696011 27696011 C T het . 5 +intronic FCN3 chr1 27697478 27697478 G C het . 4 +intronic FCN3 chr1 27699923 27699923 C A het . 5 +intronic WASF2 chr1 27790889 27790889 G T het . 3 +intergenic IFI6(dist=14776),FAM76A(dist=38990) chr1 28013500 28013500 C T het . 6 +intronic FAM76A chr1 28066822 28066822 C A het . 10 +intronic FAM76A chr1 28075737 28075737 A G het . 3 +exonic STX12 chr1 28099921 28099921 C A het . 24 +intronic STX12 chr1 28136451 28136451 C A het . 2 +exonic PPP1R8 chr1 28169775 28169775 A G het . 28 +exonic RPA2 chr1 28240635 28240635 C A het . 9 +intronic EYA3 chr1 28369279 28369279 G A het . 5 +exonic DNAJC8 chr1 28527869 28527869 C A het . 17 +intronic DNAJC8 chr1 28527888 28527888 A T het . 13 +intronic DNAJC8 chr1 28537245 28537245 C T het . 5 +intergenic SESN2(dist=25070),MED18(dist=21441) chr1 28634072 28634072 A G het . 2 +intronic PHACTR4 chr1 28817356 28817356 A - het . 16 +ncRNA_intronic SNHG3 chr1 28834154 28834154 G T het . 9 +intronic YTHDF2 chr1 29064036 29064036 C T het . 6 +intronic EPB41 chr1 29230373 29230373 G T het . 2 +intronic EPB41 chr1 29273920 29273920 - ACAA het . 5 +intronic EPB41 chr1 29342090 29342090 - A het . 19 +intronic EPB41 chr1 29385042 29385042 C A het . 20 +intronic EPB41 chr1 29414565 29414565 C T het . 1 +intergenic TMEM200B(dist=14914),SRSF4(dist=8915) chr1 29465335 29465335 C G het . 2 +exonic SRSF4 chr1 29475341 29475341 C T het . 15 +exonic SRSF4 chr1 29475394 29475394 C G het . 14 +intronic PTPRU chr1 29631387 29631387 T G het . 6 +intergenic LINC01756(dist=7777),LINC01648(dist=802396) chr1 29684403 29684403 T A het . 2 +ncRNA_intronic LINC01648 chr1 30503031 30503031 A - het . 3 +ncRNA_intronic LINC01648 chr1 30503032 30503032 A G het . 3 +intergenic LINC01648(dist=570219),MATN1(dist=103446) chr1 31080678 31080678 T C het . 2 +intergenic LINC01648(dist=570221),MATN1(dist=103444) chr1 31080680 31080680 C G het . 2 +intergenic LINC01648(dist=646623),MATN1(dist=27042) chr1 31157082 31157082 A T het . 5 +intergenic LINC01648(dist=646656),MATN1(dist=27009) chr1 31157115 31157115 G T het . 4 +intronic PUM1 chr1 31415040 31415040 A T het . 6 +intronic NKAIN1 chr1 31665910 31665910 A - het . 2 +downstream SNRNP40(dist=25) chr1 31732390 31732390 G A het . 5 +UTR3 SNRNP40(NM_004814:c.*316delT) chr1 31732603 31732603 A - het . 20 +exonic SERINC2 chr1 31906921 31906921 A C het . 7 +UTR3 SERINC2(NM_001199038:c.*56A>G,NM_001199037:c.*56A>G,NM_178865:c.*56A>G,NM_018565:c.*56A>G,NM_001199039:c.*56A>G) chr1 31907102 31907102 A G het . 5 +UTR3 HCRTR1(NM_001525:c.*337_*338insTCC) chr1 32092918 32092918 - TCC het . 15 +intronic PEF1 chr1 32100552 32100552 A - het . 21 +splicing COL16A1(NM_001856:exon57:c.3556-2A>C) chr1 32128261 32128261 T G het . 3 +intronic COL16A1 chr1 32128276 32128276 C - het . 3 +intronic COL16A1 chr1 32146425 32146425 C T het . 8 +intronic COL16A1 chr1 32159820 32159820 C A het . 2 +intronic COL16A1 chr1 32165093 32165093 G A het . 3 +intronic KHDRBS1 chr1 32495856 32495856 C A het . 16 +intronic KHDRBS1 chr1 32496999 32496999 C A het . 6 +intergenic BSDC1(dist=28250),ZBTB8B(dist=42346) chr1 32888312 32888312 C T het . 7 +intronic ZBTB8B chr1 32948844 32948844 C A het . 2 +intergenic ZBTB8B(dist=48711),ZBTB8A(dist=2576) chr1 33002170 33002170 G T het . 4 +exonic ZBTB8A chr1 33065947 33065947 G C het . 15 +UTR3 ZBTB8OS(NM_001330475:c.*27G>A,NM_178547:c.*27G>A,NM_001308139:c.*27G>A,NM_001308138:c.*27G>A,NM_001308137:c.*67G>A,NM_001308136:c.*67G>A,NM_001308135:c.*27G>A,NM_001308141:c.*27G>A,NM_001308140:c.*27G>A) chr1 33087436 33087436 C T het . 22 +intronic ZBTB8OS chr1 33101688 33101688 G T het . 2 +intronic RBBP4 chr1 33139043 33139043 C T het . 15 +intronic RBBP4 chr1 33139044 33139044 - C het . 15 +intronic S100PBP chr1 33295554 33295554 C A het . 20 +UTR3 AK2(NM_001199199:c.*463C>T,NM_013411:c.*463C>T,NM_001319142:c.*463C>T,NM_001319141:c.*512C>T,NM_001319139:c.*463C>T) chr1 33475967 33475967 G A het . 31 +UTR3 AK2(NM_001199199:c.*206_*205delGT,NM_013411:c.*206_*205delGT,NM_001319142:c.*206_*205delGT,NM_001319141:c.*255_*254delGT,NM_001319139:c.*206_*205delGT) chr1 33476224 33476225 AC - het . 10 +UTR3 AK2(NM_001199199:c.*191A>G,NM_013411:c.*191A>G,NM_001319142:c.*191A>G,NM_001319141:c.*240A>G,NM_001319139:c.*191A>G) chr1 33476239 33476239 T C het . 13 +UTR3 AK2(NM_001625:c.*1541G>T,NM_001319140:c.*1541G>T) chr1 33477241 33477241 C A het . 40 +UTR3 AK2(NM_001625:c.*196_*195delTG,NM_001319140:c.*196_*195delTG) chr1 33478586 33478587 CA - het . 19 +exonic AK2 chr1 33478983 33478983 G A het . 21 +upstream ZNF362(dist=123) chr1 33722051 33722051 - CCGCCG het . 3 +intronic ZSCAN20 chr1 33941028 33941028 T A het . 3 +intronic ZSCAN20 chr1 33958397 33958397 G A het . 2 +intronic CSMD2 chr1 33987021 33987021 A C het . 3 +intronic CSMD2 chr1 33987025 33987025 A C het . 5 +intronic CSMD2 chr1 34023253 34023253 C T het . 3 +intronic CSMD2 chr1 34043170 34043170 C - het . 2 +intronic CSMD2 chr1 34215907 34215907 A G het . 3 +intronic CSMD2 chr1 34428525 34428525 G A het . 2 +exonic CSMD2 chr1 34554667 34554667 C A het . 33 +intronic C1orf94 chr1 34679129 34679129 C A het . 3 +intergenic C1orf94(dist=26716),MIR552(dist=423753) chr1 34711447 34711447 C T het . 1 +intergenic C1orf94(dist=88066),MIR552(dist=362403) chr1 34772797 34772797 - G het . 3 +intergenic C1orf94(dist=206833),MIR552(dist=243636) chr1 34891564 34891564 T G het . 1 +intergenic C1orf94(dist=206850),MIR552(dist=243619) chr1 34891581 34891581 C A het . 2 +intergenic C1orf94(dist=287740),MIR552(dist=162729) chr1 34972471 34972471 C G het . 2 +intergenic C1orf94(dist=388405),MIR552(dist=62064) chr1 35073136 35073136 G A het . 1 +intergenic MIR552(dist=48789),GJB5(dist=36564) chr1 35184084 35184084 C T het . 3 +intergenic GJA4(dist=15644),SMIM12(dist=38971) chr1 35276992 35276992 G A het . 1 +exonic DLGAP3 chr1 35332749 35332749 C A het . 29 +intronic ZMYM6 chr1 35472871 35472871 G T het . 2 +exonic ZMYM6 chr1 35476468 35476468 G A het . 11 +exonic ZMYM6 chr1 35476588 35476588 G A het . 8 +intronic ZMYM6 chr1 35478209 35478209 C A het . 18 +intronic ZMYM6 chr1 35484778 35484778 C A het . 5 +intronic ZMYM1 chr1 35535250 35535250 A T het . 2 +intergenic ZMYM1(dist=33969),SFPQ(dist=33772) chr1 35615428 35615429 TC - het . 1 +intergenic ZMYM1(dist=48889),SFPQ(dist=18853) chr1 35630348 35630348 G A het . 2 +intronic SFPQ chr1 35654477 35654477 G A het . 6 +exonic ZMYM4 chr1 35824704 35824704 C A het . 32 +intronic ZMYM4 chr1 35871119 35871119 C T het . 7 +intronic ZMYM4 chr1 35879556 35879556 T - het . 10 +intronic ZMYM4 chr1 35879694 35879694 T - het . 7 +intronic KIAA0319L chr1 36019907 36019907 C A het . 7 +exonic NCDN chr1 36030946 36030946 T C het . 8 +intergenic PSMB2(dist=5527),C1orf216(dist=66505) chr1 36112972 36112972 A G het . 3 +intergenic PSMB2(dist=29805),C1orf216(dist=42224) chr1 36137250 36137253 CTTG - het . 2 +intronic CLSPN chr1 36188237 36188237 T - het . 2 +intergenic CLSPN(dist=23816),AGO4(dist=14461) chr1 36259367 36259367 T - het . 2 +intergenic CLSPN(dist=23829),AGO4(dist=14447) chr1 36259380 36259381 CG - het . 2 +intergenic CLSPN(dist=23838),AGO4(dist=14439) chr1 36259389 36259389 T - het . 2 +intronic AGO4 chr1 36298020 36298020 T - het . 3 +upstream;downstream ADPRHL2(dist=11);TEKT2(dist=566) chr1 36554442 36554442 G C het . 12 +intronic COL8A2 chr1 36569787 36569789 CTC - het . 2 +intronic MAP7D1 chr1 36643126 36643128 AAC - het . 16 +intronic THRAP3 chr1 36754654 36754654 - A het . 10 +intronic THRAP3 chr1 36762396 36762396 C T het . 9 +intronic EVA1B chr1 36788356 36788356 A G het . 2 +intronic CSF3R chr1 36937392 36937392 T C het . 2 +intergenic CSF3R(dist=1860),GRIK3(dist=310353) chr1 36950775 36950775 A T het . 2 +intergenic CSF3R(dist=214461),GRIK3(dist=97752) chr1 37163376 37163376 A C het . 2 +intergenic CSF3R(dist=268084),GRIK3(dist=44129) chr1 37216999 37216999 A - het . 2 +intronic GRIK3 chr1 37411387 37411387 G A het . 2 +intronic GRIK3 chr1 37478768 37478768 A G het . 2 +intergenic MIR4255(dist=90552),LINC01137(dist=202693) chr1 37717787 37717787 A G het . 2 +intergenic MIR4255(dist=90575),LINC01137(dist=202670) chr1 37717810 37717810 G A het . 2 +intergenic MIR4255(dist=90577),LINC01137(dist=202668) chr1 37717812 37717812 C T het . 2 +intergenic MIR4255(dist=169074),LINC01137(dist=124171) chr1 37796309 37796309 T G het . 2 +intergenic MIR4255(dist=229733),LINC01137(dist=63512) chr1 37856968 37856968 T C het . 1 +intergenic MIR4255(dist=279206),LINC01137(dist=14039) chr1 37906441 37906441 G A het . 1 +intronic MEAF6 chr1 37959772 37959772 A - het . 16 +intergenic MEAF6(dist=11038),SNIP1(dist=8592) chr1 37991458 37991458 C T het . 2 +exonic GNL2 chr1 38041223 38041223 G A het . 4 +intronic GNL2 chr1 38058459 38058459 C T het . 16 +intronic CDCA8 chr1 38164724 38164724 C G het . 9 +intronic CDCA8 chr1 38166022 38166022 T C het . 4 +intergenic EPHA10(dist=10806),MANEAL(dist=18144) chr1 38241630 38241630 C G het . 2 +intergenic EPHA10(dist=10829),MANEAL(dist=18121) chr1 38241653 38241653 T G het . 2 +intergenic EPHA10(dist=10891),MANEAL(dist=18059) chr1 38241715 38241715 A C het . 1 +intronic MTF1 chr1 38283200 38283200 C A het . 18 +intronic MTF1 chr1 38293992 38293992 C T het . 7 +intronic MTF1 chr1 38301476 38301476 G A het . 5 +UTR3 INPP5B(NM_005540:c.*51_*50delCT,NM_001297434:c.*51_*50delCT,NM_001350228:c.*51_*50delCT,NM_001350227:c.*51_*50delCT) chr1 38327936 38327937 AG - het . 14 +intronic INPP5B chr1 38339012 38339012 - A het . 1 +exonic INPP5B chr1 38353097 38353097 G A het . 19 +intronic INPP5B chr1 38358758 38358768 TTTTTTTTTTT - het . 2 +intronic SF3A3 chr1 38435414 38435414 C - het . 8 +intronic SF3A3 chr1 38445393 38445393 A G het . 2 +intronic SF3A3 chr1 38447615 38447615 G T het . 2 +intergenic MIR3659(dist=41655),LINC01343(dist=78050) chr1 38596656 38596656 C G het . 1 +intergenic LINC01343(dist=105491),LINC01685(dist=154938) chr1 38785930 38785930 T C het . 1 +intergenic LINC01343(dist=115747),LINC01685(dist=144682) chr1 38796186 38796186 T A het . 2 +intergenic LINC01343(dist=115749),LINC01685(dist=144680) chr1 38796188 38796188 T A het . 2 +intergenic LINC01343(dist=126533),LINC01685(dist=133896) chr1 38806972 38806972 C T het . 2 +intergenic LINC01343(dist=249305),LINC01685(dist=11124) chr1 38929744 38929744 A C het . 2 +intergenic LINC01343(dist=249321),LINC01685(dist=11105) chr1 38929760 38929763 CAAA - het . 2 +intronic RHBDL2 chr1 39368097 39368097 T - het . 3 +intergenic RHBDL2(dist=2835),AKIRIN1(dist=46579) chr1 39410337 39410337 - A het . 2 +UTR5 AKIRIN1(NM_024595:c.-47C>T,NM_001136275:c.-47C>T) chr1 39457006 39457006 C T het . 5 +intronic MACF1 chr1 39559224 39559224 C G het . 2 +intronic MACF1 chr1 39567866 39567867 AG - het . 2 +intronic MACF1 chr1 39596109 39596109 A G het . 2 +intronic MACF1 chr1 39612786 39612786 T C het . 3 +intronic MACF1 chr1 39643695 39643695 T C het . 2 +intronic MACF1 chr1 39643712 39643712 C T het . 2 +intronic MACF1 chr1 39668327 39668327 A T het . 2 +intronic MACF1 chr1 39741600 39741600 T C het . 1 +exonic KIAA0754 chr1 39878143 39878144 CC AA het . 24 +intronic MACF1 chr1 39912165 39912165 T - het . 2 +intronic MACF1 chr1 39914223 39914223 G A het . 12 +intronic MACF1 chr1 39929163 39929163 A - het . 5 +intergenic PABPC4(dist=12681),HEYL(dist=33901) chr1 40055202 40055202 G A het . 2 +intronic NT5C1A chr1 40129211 40129211 G A het . 2 +intronic HPCAL4 chr1 40148418 40148418 G A het . 3 +intronic HPCAL4 chr1 40149870 40149870 C G het . 6 +intronic MFSD2A chr1 40422902 40422902 T G het . 3 +intronic CAP1 chr1 40519803 40519806 GAGT - het . 4 +intronic CAP1 chr1 40526003 40526003 T C het . 3 +intronic PPT1 chr1 40540102 40540102 G C het . 8 +intronic PPT1 chr1 40547238 40547241 ATAG - het . 2 +intronic ZMPSTE24 chr1 40746093 40746093 T - het . 16 +intronic COL9A2 chr1 40779986 40779986 C A het . 38 +intergenic COL9A2(dist=16377),SMAP2(dist=40062) chr1 40799316 40799316 A G het . 10 +intronic SMAP2 chr1 40840296 40840296 - GA het . 7 +exonic ZFP69 chr1 40960810 40960810 C A het . 37 +intergenic ZNF684(dist=9384),RIMS3(dist=63127) chr1 41023225 41023225 C T het . 2 +intronic NFYC chr1 41213548 41213548 T C het . 1 +exonic KCNQ4 chr1 41304089 41304089 A C het . 21 +intergenic CITED4(dist=81623),CTPS1(dist=35727) chr1 41409641 41409641 G T het . 1 +intronic CTPS1 chr1 41451436 41451436 T C het . 1 +intronic SCMH1 chr1 41592998 41592998 G A het . 2 +intronic SCMH1 chr1 41617252 41617252 C A het . 10 +intergenic NONE(dist=NONE),GUCA2B(dist=47097) chr1 42571995 42571995 C T het . 1 +intronic FOXJ3 chr1 42681719 42681719 T A het . 2 +intronic FOXJ3 chr1 42769934 42769934 A - het . 4 +exonic RIMKLA chr1 42880516 42880516 T C het . 10 +intronic CCDC30 chr1 43076556 43076558 TTT - het . 5 +intronic CCDC30 chr1 43076581 43076581 A C het . 7 +intronic YBX1 chr1 43158944 43158944 T - het . 3 +intronic P3H1 chr1 43220767 43220767 C A het . 25 +upstream C1orf50,P3H1(dist=118) chr1 43232798 43232798 G T het . 8 +upstream C1orf50,P3H1(dist=109) chr1 43232807 43232807 C G het . 8 +intronic TMEM269 chr1 43263280 43263280 C A het . 3 +ncRNA_exonic LOC339539 chr1 43352894 43352894 C T het . 13 +ncRNA_exonic LOC339539 chr1 43352917 43352917 - CGTCTCCTCT het . 12 +intergenic LOC339539(dist=2302),SLC2A1(dist=34281) chr1 43356765 43356765 T C het . 2 +intergenic LOC339539(dist=3340),SLC2A1(dist=33243) chr1 43357803 43357803 G T het . 5 +intergenic LOC339539(dist=3348),SLC2A1(dist=33234) chr1 43357811 43357812 AC - het . 5 +intergenic SLC2A1-AS1(dist=4159),FAM183A(dist=160406) chr1 43453188 43453188 A T het . 2 +exonic FAM183A chr1 43613627 43613627 C A het . 11 +intronic CFAP57 chr1 43651175 43651175 C A het . 7 +intronic CFAP57 chr1 43652305 43652305 G A het . 4 +intronic CFAP57 chr1 43684278 43684278 - AA het . 2 +intronic CFAP57 chr1 43689706 43689706 C A het . 15 +intronic CFAP57 chr1 43700140 43700140 A G het . 4 +intronic CFAP57 chr1 43713441 43713441 C T het . 2 +upstream MPL(dist=397) chr1 43803078 43803078 C T het . 2 +intronic CDC20 chr1 43825583 43825583 - TGAG het . 16 +UTR3 SZT2(NM_015284:c.*1646G>A) chr1 43917797 43917797 G A het . 1 +intergenic PTPRF(dist=15503),KDM4A(dist=10951) chr1 44104846 44104846 - T het . 2 +intergenic PTPRF(dist=25062),KDM4A(dist=1392) chr1 44114405 44114405 A T het . 3 +intronic KDM4A chr1 44118406 44118406 G A het . 3 +intronic KDM4A chr1 44119038 44119038 - T het . 5 +intronic KDM4A chr1 44125963 44125963 A - het . 9 +intronic ST3GAL3 chr1 44357685 44357685 A G het . 2 +intronic ST3GAL3 chr1 44386615 44386615 A G het . 2 +upstream;downstream CCDC24(dist=53);B4GALT2(dist=372) chr1 44457215 44457215 G A het . 4 +intergenic SLC6A9(dist=50726),KLF17(dist=36632) chr1 44547890 44547890 A G het . 2 +intergenic SLC6A9(dist=64622),KLF17(dist=22736) chr1 44561786 44561786 C G het . 2 +intronic KLF17 chr1 44587895 44587895 C T het . 24 +intronic ERI3 chr1 44724062 44724062 G T het . 2 +intronic ERI3 chr1 44754588 44754588 A G het . 1 +intronic RNF220 chr1 45070983 45070983 - AG het . 2 +intronic RNF220 chr1 45101951 45101951 G A het . 4 +intronic ARMH1 chr1 45169711 45169711 T A het . 5 +intronic KIF2C chr1 45220566 45220566 C A het . 7 +UTR3 EIF2B3(NM_001261418:c.*211G>A,NM_020365:c.*162G>A) chr1 45316461 45316461 C T het . 6 +intronic EIF2B3 chr1 45322201 45322203 AAA - het . 2 +intronic EIF2B3 chr1 45322222 45322222 G T het . 2 +intronic EIF2B3 chr1 45347553 45347553 C A het . 6 +upstream EIF2B3(dist=284) chr1 45452678 45452680 TTG - het . 2 +intronic HECTD3 chr1 45475852 45475852 A C het . 13 +exonic ZSWIM5 chr1 45500046 45500046 G A het . 11 +intronic ZSWIM5 chr1 45551776 45551776 G A het . 5 +intronic TESK2 chr1 45861781 45861781 A T het . 2 +intergenic PRDX1(dist=9039),AKR1A1(dist=18854) chr1 45997601 45997601 C A het . 1 +intronic NASP chr1 46066608 46066608 A G het . 2 +UTR3 CCDC17(NM_001114938:c.*68G>C,NM_001190182:c.*68G>C) chr1 46085879 46085879 C G het . 2 +intronic CCDC17 chr1 46087879 46087879 A G het . 4 +intronic GPBP1L1 chr1 46105726 46105726 A - het . 2 +intronic GPBP1L1 chr1 46124663 46124663 A G het . 9 +intergenic IPP(dist=31088),MAST2(dist=21706) chr1 46247573 46247573 C T het . 7 +intergenic IPP(dist=31090),MAST2(dist=21704) chr1 46247575 46247575 C A het . 7 +intergenic IPP(dist=31101),MAST2(dist=21693) chr1 46247586 46247586 T G het . 6 +intergenic IPP(dist=31106),MAST2(dist=21688) chr1 46247591 46247591 A G het . 6 +intergenic IPP(dist=31114),MAST2(dist=21680) chr1 46247599 46247599 C G het . 7 +intergenic IPP(dist=32808),MAST2(dist=19986) chr1 46249293 46249293 - T het . 2 +intronic MAST2 chr1 46347876 46347876 A T het . 5 +intronic MAST2 chr1 46347879 46347879 T A het . 5 +intronic MAST2 chr1 46347910 46347910 G A het . 4 +intronic MAST2 chr1 46407781 46407781 C T het . 3 +intronic MAST2 chr1 46445102 46445102 T - het . 2 +intronic MAST2 chr1 46445108 46445108 T G het . 2 +exonic MAST2 chr1 46495832 46495832 G A het . 15 +intronic LOC110117498-PIK3R3,PIK3R3 chr1 46511487 46511487 G C het . 10 +UTR5 PIK3R3(NM_001303429:c.-645G>T,NM_001328653:c.-55012G>T,NM_001328652:c.-645G>T,NM_001328654:c.-65660G>T,NM_003629:c.-645G>T) chr1 46598269 46598269 C A het . 9 +UTR5 PIK3R3(NM_001303429:c.-649T>G,NM_001328653:c.-55016T>G,NM_001328652:c.-649T>G,NM_001328654:c.-65664T>G,NM_003629:c.-649T>G) chr1 46598273 46598273 A C het . 10 +intronic POMGNT1 chr1 46660194 46660194 C A het . 11 +intronic POMGNT1 chr1 46660410 46660410 C A het . 20 +exonic RAD54L chr1 46714242 46714242 A G het . 30 +intronic RAD54L chr1 46730853 46730853 T A het . 2 +intronic UQCRH chr1 46770060 46770061 TT - het . 2 +intronic NSUN4 chr1 46806703 46806703 A G het . 9 +intronic NSUN4 chr1 46812519 46812519 A G het . 5 +intronic ATPAF1 chr1 47101796 47101796 C T het . 8 +ncRNA_exonic EFCAB14-AS1 chr1 47152351 47152351 C A het . 6 +intergenic EFCAB14(dist=72493),CYP4B1(dist=7441) chr1 47257229 47257229 A - het . 2 +intergenic CYP4Z2P(dist=8592),CYP4A11(dist=20103) chr1 47374739 47374743 CAAAA - het . 7 +intronic CYP4A11 chr1 47398743 47398743 G C het . 3 +intronic CYP4Z1 chr1 47571944 47571944 T - het . 6 +intergenic TAL1(dist=13799),STIL(dist=4005) chr1 47711806 47711806 - TTC het . 2 +intronic STIL chr1 47728515 47728515 C A het . 16 +intronic STIL chr1 47729034 47729034 T G het . 2 +intronic STIL chr1 47737485 47737485 A C het . 3 +intronic STIL chr1 47754752 47754752 A C het . 1 +intronic STIL chr1 47772694 47772694 G T het . 2 +intronic STIL chr1 47772716 47772716 C G het . 2 +upstream STIL(dist=583) chr1 47780402 47780402 T - het . 2 +intronic CMPK1 chr1 47827645 47827645 C A het . 2 +exonic FOXD2 chr1 47904668 47904668 T C het . 5 +exonic FOXD2 chr1 47904909 47904909 G C het . 3 +intergenic FOXD2(dist=61462),TRABD2B(dist=258375) chr1 47967825 47967825 C A het . 2 +intronic TRABD2B chr1 48267515 48267515 A G het . 1 +intronic TRABD2B chr1 48267524 48267524 T C het . 2 +ncRNA_intronic SKINT1L chr1 48612924 48612924 G A het . 2 +intergenic SKINT1L(dist=25195),SLC5A9(dist=15062) chr1 48673295 48673295 C T het . 2 +intronic SPATA6 chr1 48790912 48790912 G A het . 4 +intronic SPATA6 chr1 48864983 48864983 C A het . 6 +intronic AGBL4 chr1 49281579 49281579 C G het . 1 +ncRNA_intronic LOC101929721 chr1 49733352 49733352 A - het . 3 +intronic AGBL4 chr1 50277643 50277643 G T het . 2 +intronic ELAVL4 chr1 50610037 50610037 - A het . 4 +intronic ELAVL4 chr1 50610050 50610050 A C het . 4 +intergenic ELAVL4(dist=178379),DMRTA2(dist=35387) chr1 50847836 50847836 A G het . 1 +intergenic ELAVL4(dist=182990),DMRTA2(dist=30776) chr1 50852447 50852447 A G het . 1 +intergenic ELAVL4(dist=195551),DMRTA2(dist=18215) chr1 50865008 50865008 A G het . 3 +intronic FAF1 chr1 51120990 51120990 G A het . 11 +intronic EPS15 chr1 51909306 51909309 TTTC - het . 2 +intronic EPS15 chr1 51912557 51912557 C A het . 7 +intronic EPS15 chr1 51926649 51926649 A C het . 3 +intronic EPS15 chr1 51926909 51926909 G A het . 13 +intronic EPS15 chr1 51978678 51978678 T A het . 2 +intronic OSBPL9 chr1 52205662 52205662 T - het . 7 +intronic OSBPL9 chr1 52242433 52242433 T - het . 18 +splicing NRDC(NM_001242361:exon20:c.1918+1G>T,NM_002525:exon20:c.2314+1G>T,NM_001101662:exon18:c.2110+1G>T) chr1 52272465 52272465 C A het . 17 +exonic NRDC chr1 52301825 52301825 C A het . 19 +intergenic NRDC(dist=23710),RAB3B(dist=5309) chr1 52368319 52368319 T C het . 2 +UTR3 RAB3B(NM_002867:c.*4235_*4233delAAA) chr1 52381364 52381366 TTT - het . 3 +intronic TXNDC12 chr1 52489322 52489322 G A het . 6 +intronic TXNDC12 chr1 52494579 52494579 G C het . 1 +UTR3 BTF3L4(NM_152265:c.*2958C>T,NM_001136497:c.*2958C>T,NM_001243767:c.*2996C>T) chr1 52555388 52555388 C T het . 2 +intronic ZFYVE9 chr1 52717674 52717674 C A het . 3 +intronic ZFYVE9 chr1 52717821 52717821 A G het . 3 +intronic TUT4 chr1 52912122 52912122 - A het . 8 +intronic TUT4 chr1 52943225 52943225 C A het . 2 +intronic TUT4 chr1 52956518 52956518 A G het . 13 +intergenic SHISAL2A(dist=25761),COA7(dist=3516) chr1 53148498 53148498 - T het . 3 +intronic ZYG11B chr1 53271019 53271019 C A het . 9 +intronic ZYG11B chr1 53279194 53279194 T - het . 5 +intronic ZYG11A chr1 53332294 53332294 C A het . 11 +intronic ZYG11A chr1 53351350 53351351 TT - het . 5 +exonic SCP2 chr1 53446126 53446126 C A het . 22 +intronic SCP2 chr1 53460299 53460299 C A het . 8 +intronic SCP2 chr1 53480343 53480343 C A het . 5 +intronic SCP2 chr1 53513437 53513437 T C het . 11 +intronic PODN chr1 53541458 53541458 G A het . 3 +exonic SLC1A7 chr1 53553754 53553754 T C het . 2 +UTR3 SLC1A7(NM_001287596:c.*213_*210delATTG) chr1 53574048 53574051 CAAT - het . 1 +UTR3 SLC1A7(NM_001287596:c.*185C>T) chr1 53574076 53574076 G A het . 2 +intronic SLC1A7 chr1 53580663 53580663 T G het . 4 +intronic SLC1A7 chr1 53580671 53580671 T G het . 4 +intronic SLC1A7 chr1 53580676 53580676 T G het . 4 +intergenic SLC1A7(dist=49874),CPT2(dist=3923) chr1 53658178 53658178 G A het . 3 +intronic CPT2 chr1 53677273 53677280 TTTTTTTT - het . 2 +intronic C1orf123 chr1 53684525 53684525 C G het . 12 +exonic LRP8 chr1 53716416 53716416 G A het . 15 +intergenic LINC01771(dist=15181),SLC25A3P1(dist=86681) chr1 53817362 53817362 C - het . 2 +intronic GLIS1 chr1 54062718 54062718 G A het . 3 +intronic HSPB11 chr1 54389775 54389776 AG - het . 10 +intergenic LRRC42(dist=37256),LDLRAD1(dist=1874) chr1 54471097 54471097 T - het . 2 +intronic CDCP2 chr1 54618435 54618435 A T het . 2 +intronic CYB5RL chr1 54645292 54645292 C G het . 2 +intronic CYB5RL chr1 54645313 54645313 G A het . 2 +exonic MRPL37 chr1 54675751 54675751 C A het . 14 +intronic SSBP3 chr1 54845614 54845614 A G het . 1 +intronic SSBP3 chr1 54871567 54871570 CCGC - het . 6 +intergenic SSBP3(dist=36163),ACOT11(dist=105576) chr1 54908231 54908231 - T het . 2 +intergenic SSBP3(dist=36175),ACOT11(dist=105564) chr1 54908243 54908243 A T het . 2 +intronic ACOT11 chr1 55014099 55014099 C T het . 2 +intronic ACOT11 chr1 55094834 55094834 C T het . 2 +exonic MROH7 chr1 55175748 55175748 C A het . 35 +exonic TTC22 chr1 55251689 55251689 T C het . 10 +intronic LEXM chr1 55279346 55279352 CCGGCCT - het . 2 +intronic LEXM chr1 55300779 55300779 C A het . 2 +intronic LEXM chr1 55300802 55300802 G A het . 3 +UTR5 TMEM61(NM_182532:c.-75G>C) chr1 55446664 55446664 G C het . 3 +UTR5 TMEM61(NM_182532:c.-68C>T) chr1 55446671 55446671 C T het . 3 +UTR5 TMEM61(NM_182532:c.-42G>A) chr1 55446697 55446697 G A het . 5 +UTR5 BSND(NM_057176:c.-70C>G) chr1 55464790 55464790 C G het . 2 +intergenic BSND(dist=14366),PCSK9(dist=16318) chr1 55488831 55488831 T A het . 2 +exonic PCSK9 chr1 55509564 55509564 A C het . 25 +intronic PCSK9 chr1 55512137 55512137 G A het . 10 +UTR3 USP24(NM_015306:c.*1976C>G) chr1 55532742 55532742 G C het . 1 +intronic USP24 chr1 55541339 55541339 C - het . 7 +intronic USP24 chr1 55541341 55541348 CCACCACC - het . 7 +intronic USP24 chr1 55558021 55558021 T A het . 3 +intronic USP24 chr1 55593520 55593520 A G het . 3 +intronic USP24 chr1 55593546 55593546 A G het . 2 +intronic USP24 chr1 55605050 55605050 T C het . 2 +intronic USP24 chr1 55605056 55605056 A G het . 1 +intronic USP24 chr1 55614037 55614038 AT - het . 7 +intronic USP24 chr1 55637390 55637390 T C het . 22 +intronic USP24 chr1 55638227 55638227 C T het . 8 +intronic USP24 chr1 55643838 55643838 A - het . 14 +intergenic MIR4422HG(dist=15562),LINC01753(dist=665870) chr1 55715412 55715412 C T het . 2 +intergenic MIR4422HG(dist=44317),LINC01753(dist=637115) chr1 55744167 55744167 C T het . 2 +intergenic MIR4422HG(dist=436883),LINC01753(dist=244549) chr1 56136733 56136733 G A het . 1 +intergenic LINC01755(dist=159914),LINC01767(dist=304929) chr1 56575706 56575706 A G het . 2 +intronic PLPP3 chr1 56986633 56986633 C T het . 4 +intergenic PLPP3(dist=41476),LOC101929935(dist=6731) chr1 57086733 57086733 T C het . 1 +intronic PRKAA2 chr1 57165812 57165812 A G het . 2 +exonic PRKAA2 chr1 57170074 57170074 C A het . 13 +intronic FYB2 chr1 57207400 57207400 G T het . 1 +intronic FYB2 chr1 57207411 57207411 G C het . 2 +intronic FYB2 chr1 57219631 57219631 - A het . 17 +intronic C8A chr1 57320690 57320690 G A het . 25 +intronic C8B chr1 57415594 57415594 A G het . 3 +exonic DAB1 chr1 57480648 57480649 CC TT het . 5 +intronic DAB1 chr1 57563960 57563960 G A het . 1 +intronic DAB1 chr1 58084415 58084415 - T het . 2 +intronic DAB1 chr1 58101205 58101205 C T het . 4 +intronic DAB1 chr1 58128884 58128884 C A het . 1 +intronic DAB1 chr1 58128897 58128897 C A het . 2 +intronic DAB1 chr1 58488824 58488824 T A het . 1 +intergenic DAB1(dist=219570),OMA1(dist=10591) chr1 58935789 58935800 TTTATTTATTTA - het . 2 +intronic OMA1 chr1 58975094 58975094 C A het . 2 +intronic OMA1 chr1 58999373 58999373 C T het . 5 +UTR5 OMA1(NM_145243:c.-13G>A) chr1 59004979 59004979 C T het . 10 +intergenic OMA1(dist=1862),TACSTD2(dist=26762) chr1 59014333 59014333 G T het . 1 +intergenic TACSTD2(dist=52879),MYSM1(dist=24366) chr1 59096045 59096045 G A het . 21 +intergenic TACSTD2(dist=52889),MYSM1(dist=24356) chr1 59096055 59096055 G A het . 23 +intergenic TACSTD2(dist=52894),MYSM1(dist=24351) chr1 59096060 59096060 C A het . 21 +intergenic TACSTD2(dist=53378),MYSM1(dist=23867) chr1 59096544 59096544 A G het . 7 +intergenic TACSTD2(dist=54006),MYSM1(dist=23239) chr1 59097172 59097172 C T het . 21 +intronic MYSM1 chr1 59131088 59131089 AA GC het . 9 +intronic MYSM1 chr1 59155683 59155683 T C het . 5 +intronic MYSM1 chr1 59160725 59160726 AA - het . 9 +intronic MYSM1 chr1 59160735 59160735 A G het . 9 +ncRNA_intronic LINC01135 chr1 59344307 59344307 G A het . 4 +ncRNA_intronic LINC01135 chr1 59364707 59364707 C A het . 7 +intergenic LINC01135(dist=110330),LINC01358(dist=10434) chr1 59475714 59475714 T - het . 2 +intergenic LINC01135(dist=110348),LINC01358(dist=10416) chr1 59475732 59475732 C T het . 2 +intergenic LINC01135(dist=110352),LINC01358(dist=10412) chr1 59475736 59475736 G C het . 2 +ncRNA_intronic LINC01358 chr1 59541358 59541358 A T het . 2 +intergenic LINC01358(dist=16619),HSD52(dist=27070) chr1 59570538 59570538 G T het . 2 +intergenic HSD52(dist=125159),FGGY(dist=24672) chr1 59737638 59737638 C A het . 1 +intronic FGGY chr1 60021328 60021328 C A het . 2 +UTR3 CYP2J2(NM_000775:c.*77T>A) chr1 60359246 60359246 A T het . 3 +intergenic CYP2J2(dist=12471),C1orf87(dist=51125) chr1 60404941 60404941 A G het . 2 +exonic C1orf87 chr1 60521096 60521096 C A het . 18 +intergenic C1orf87(dist=412397),LINC01748(dist=29549) chr1 60951839 60951839 C A het . 2 +intergenic C1orf87(dist=412433),LINC01748(dist=29513) chr1 60951875 60951875 T A het . 2 +ncRNA_intronic LOC101926964 chr1 61254718 61254718 G T het . 2 +intronic NFIA chr1 61605087 61605087 A G het . 2 +intronic NFIA chr1 61774940 61774940 - ATGTTAGTCCTAT het . 2 +intronic NFIA chr1 61774969 61774969 G A het . 2 +exonic NFIA chr1 61869783 61869783 G A het . 14 +intronic TM2D1 chr1 62160542 62160542 A G het . 5 +intergenic TM2D1(dist=7767),PATJ(dist=9276) chr1 62198862 62198862 T G het . 8 +intronic PATJ chr1 62329886 62329886 T - het . 9 +exonic PATJ chr1 62330134 62330134 G A het . 19 +intronic PATJ chr1 62341157 62341157 T C het . 8 +intronic PATJ chr1 62518459 62518459 T C het . 1 +intronic PATJ chr1 62519876 62519876 A G het . 1 +intronic PATJ chr1 62529898 62529898 G A het . 2 +intronic PATJ chr1 62587014 62587014 - A het . 3 +exonic L1TD1 chr1 62675619 62675619 C T het . 35 +exonic L1TD1 chr1 62676836 62676836 C A het . 32 +intergenic KANK4(dist=5109),USP1(dist=111781) chr1 62790194 62790194 - AAGA het . 2 +intergenic KANK4(dist=5194),USP1(dist=111696) chr1 62790279 62790279 A T het . 4 +intergenic USP1(dist=1553),DOCK7(dist=1369) chr1 62919028 62919028 T - het . 2 +intronic DOCK7 chr1 62943264 62943264 C T het . 5 +exonic DOCK7 chr1 62970397 62970397 C T het . 14 +intronic DOCK7 chr1 63044646 63044646 A - het . 14 +intronic DOCK7 chr1 63081377 63081377 T C het . 2 +intronic DOCK7 chr1 63085483 63085483 - A het . 3 +UTR5 DOCK7(NM_001330614:c.-18G>A,NM_001272001:c.-18G>A,NM_001272000:c.-18G>A,NM_001271999:c.-18G>A,NM_033407:c.-18G>A,NM_001272002:c.-18G>A) chr1 63153953 63153953 C T het . 3 +intergenic ATG4C(dist=11141),LINC01739(dist=124086) chr1 63342082 63342082 T A het . 2 +ncRNA_intronic LINC00466 chr1 63718059 63718059 C T het . 2 +intronic ITGB3BP chr1 63912564 63912568 CAATT - het . 17 +exonic ITGB3BP chr1 63975830 63975830 T C het . 9 +intronic ITGB3BP chr1 63988484 63988484 C T het . 2 +intergenic PGM1(dist=53396),ROR1(dist=60378) chr1 64179312 64179312 A G het . 1 +intronic ROR1 chr1 64361979 64361979 G C het . 1 +ncRNA_intronic ROR1-AS1 chr1 64565852 64565852 A T het . 2 +ncRNA_intronic ROR1-AS1 chr1 64565871 64565871 T A het . 3 +exonic ROR1 chr1 64643452 64643452 C A het . 11 +intergenic UBE2U(dist=14457),CACHD1(dist=209398) chr1 64726414 64726414 A C het . 15 +intergenic UBE2U(dist=110292),CACHD1(dist=113563) chr1 64822249 64822249 G C het . 2 +intergenic UBE2U(dist=110300),CACHD1(dist=113555) chr1 64822257 64822257 T C het . 1 +intergenic UBE2U(dist=147714),CACHD1(dist=76141) chr1 64859671 64859671 - GAAA het . 2 +intronic CACHD1 chr1 65016349 65016349 A T het . 14 +intronic CACHD1 chr1 65100061 65100061 - TATTTATT het . 2 +intronic CACHD1 chr1 65138787 65138787 - A het . 7 +intronic CACHD1 chr1 65138809 65138809 A T het . 11 +intronic CACHD1 chr1 65138815 65138815 G T het . 9 +intronic JAK1 chr1 65351830 65351830 C A het . 6 +intronic JAK1 chr1 65409520 65409520 A - het . 2 +intronic DNAJC6 chr1 65769416 65769416 T G het . 3 +intronic DNAJC6 chr1 65780968 65780968 - T het . 2 +intronic DNAJC6 chr1 65867391 65867391 C G het . 2 +intronic LEPR chr1 66004808 66004808 T - het . 2 +intronic LEPR chr1 66057441 66057441 T C het . 3 +intronic LEPR chr1 66082084 66082084 A G het . 3 +intronic LEPR chr1 66085574 66085574 T A het . 22 +intronic LEPR chr1 66098653 66098653 T C het . 12 +intergenic LEPR(dist=119943),PDE4B(dist=35069) chr1 66223119 66223124 TTCTTT - het . 2 +intronic PDE4B chr1 66426100 66426100 T C het . 1 +intronic PDE4B chr1 66472117 66472117 C T het . 2 +intronic PDE4B chr1 66523243 66523243 A T het . 2 +intronic PDE4B chr1 66599727 66599728 AA - het . 2 +intronic PDE4B chr1 66612042 66612042 A G het . 2 +intronic PDE4B chr1 66779912 66779912 C A het . 2 +intronic SGIP1 chr1 67098590 67098590 C A het . 6 +intronic SGIP1 chr1 67098840 67098840 C T het . 6 +intronic SGIP1 chr1 67159900 67159900 T - het . 4 +intronic SGIP1 chr1 67208537 67208537 C A het . 3 +intronic MIER1 chr1 67441672 67441672 - G het . 2 +intronic MIER1 chr1 67441673 67441673 - G het . 2 +intronic C1orf141 chr1 67577367 67577367 A T het . 5 +intronic IL23R chr1 67666402 67666402 T - het . 31 +intronic IL23R chr1 67717700 67717700 - T het . 8 +intergenic IL23R(dist=18850),IL12RB2(dist=28547) chr1 67744500 67744500 C G het . 2 +intronic IL12RB2 chr1 67852141 67852141 A G het . 3 +intronic IL12RB2 chr1 67852555 67852555 T A het . 2 +intergenic SERBP1(dist=78862),GADD45A(dist=175875) chr1 67974985 67974985 A G het . 2 +intronic GADD45A chr1 68151980 68151980 T G het . 5 +intronic GNG12 chr1 68173264 68173264 C T het . 13 +ncRNA_intronic GNG12-AS1 chr1 68382348 68382348 C T het . 2 +ncRNA_intronic GNG12-AS1 chr1 68596345 68596345 C T het . 2 +ncRNA_intronic GNG12-AS1 chr1 68598726 68598726 - GGCAGC het . 8 +ncRNA_intronic GNG12-AS1 chr1 68620998 68620998 C G het . 5 +intergenic WLS(dist=10077),RPE65(dist=186146) chr1 68708361 68708361 G T het . 35 +intergenic WLS(dist=114298),RPE65(dist=81925) chr1 68812582 68812582 T C het . 2 +intronic RPE65 chr1 68905368 68905368 T - het . 16 +intronic DEPDC1 chr1 68955445 68955445 A - het . 4 +intergenic DEPDC1-AS1(dist=10055),LINC01707(dist=507216) chr1 69014365 69014365 - AAC het . 2 +intergenic DEPDC1-AS1(dist=456979),LINC01707(dist=60292) chr1 69461289 69461289 C T het . 2 +intergenic LINC01707(dist=81589),LINC01758(dist=166659) chr1 69732274 69732279 TTTTTG - het . 2 +intergenic LINC01758(dist=38824),LRRC7(dist=92952) chr1 69939916 69939916 - CTT het . 2 +intergenic LINC01758(dist=112852),LRRC7(dist=18924) chr1 70013944 70013944 C A het . 1 +intergenic LINC01758(dist=112862),LRRC7(dist=18914) chr1 70013954 70013954 T C het . 2 +intronic LRRC7 chr1 70034370 70034370 - CAGCCGCGTG het . 11 +intronic LRRC7 chr1 70144056 70144056 T C het . 4 +intronic LRRC7 chr1 70502414 70502414 T - het . 6 +intronic LRRC7 chr1 70538262 70538267 CTGCTG - het . 12 +intronic LRRC40 chr1 70617052 70617052 T C het . 22 +intronic ANKRD13C chr1 70763599 70763599 A - het . 2 +intronic ANKRD13C chr1 70790767 70790767 T C het . 4 +intronic CTH chr1 70883878 70883878 G A het . 4 +intronic CTH chr1 70899674 70899674 C A het . 19 +intergenic CTH(dist=71678),LINC01788(dist=194924) chr1 70977212 70977212 C A het . 2 +intergenic CTH(dist=91345),LINC01788(dist=175257) chr1 70996879 70996879 G T het . 42 +intergenic CTH(dist=95229),LINC01788(dist=171373) chr1 71000763 71000763 T C het . 2 +intergenic CTH(dist=95241),LINC01788(dist=171361) chr1 71000775 71000775 C T het . 2 +intergenic CTH(dist=214322),LINC01788(dist=52280) chr1 71119856 71119856 C T het . 1 +ncRNA_intronic LINC01788 chr1 71207367 71207367 A T het . 4 +intergenic LINC01788(dist=22265),PTGER3(dist=43620) chr1 71274416 71274416 A G het . 1 +intronic PTGER3 chr1 71397835 71397835 A G het . 2 +intronic PTGER3 chr1 71397839 71397839 C A het . 2 +intronic ZRANB2 chr1 71544490 71544490 C A het . 13 +intergenic ZRANB2-AS2(dist=119610),NEGR1(dist=45609) chr1 71823016 71823016 - TG het . 3 +intergenic ZRANB2-AS2(dist=159081),NEGR1(dist=6138) chr1 71862487 71862487 G A het . 3 +intronic NEGR1 chr1 71937346 71937346 A - het . 3 +intronic NEGR1 chr1 72161139 72161139 G C het . 1 +intronic NEGR1 chr1 72171477 72171477 A G het . 2 +ncRNA_intronic NEGR1-IT1 chr1 72287866 72287866 G T het . 2 +intronic NEGR1 chr1 72510281 72510281 C T het . 1 +intergenic NEGR1(dist=302354),LINC01360(dist=721221) chr1 73050631 73050632 AG GT het . 2 +intergenic NEGR1(dist=439182),LINC01360(dist=584392) chr1 73187459 73187461 TTC - het . 2 +intergenic NEGR1(dist=764257),LINC01360(dist=259319) chr1 73512534 73512534 A G het . 1 +intergenic LINC01360(dist=54885),LINC02238(dist=280916) chr1 73859445 73859446 CT - het . 3 +ncRNA_intronic LINC02238 chr1 74196781 74196781 G A het . 4 +intergenic LINC02238(dist=60051),LRRIQ3(dist=227326) chr1 74264376 74264376 G A het . 2 +intergenic LINC02238(dist=121080),LRRIQ3(dist=166297) chr1 74325405 74325405 C T het . 2 +intronic LRRIQ3 chr1 74539193 74539193 - AAAC het . 11 +intronic LRRIQ3 chr1 74539260 74539260 G T het . 6 +intronic LRRIQ3 chr1 74549763 74549763 C A het . 12 +exonic FPGT chr1 74671185 74671185 C A het . 18 +intronic FPGT-TNNI3K chr1 74700941 74700941 T C het . 5 +intronic FPGT-TNNI3K,TNNI3K chr1 74902132 74902132 C A het . 8 +exonic ERICH3 chr1 75038225 75038225 C A het . 24 +exonic ERICH3 chr1 75038228 75038228 A C het . 26 +intronic ERICH3 chr1 75042626 75042626 - A het . 14 +intronic CRYZ chr1 75172757 75172757 A - het . 8 +intronic CRYZ chr1 75175632 75175632 - TAAAT het . 4 +intronic CRYZ chr1 75185560 75185560 C A het . 2 +intronic TYW3 chr1 75199152 75199152 C T het . 6 +intergenic TYW3(dist=179355),LHX8(dist=182404) chr1 75411715 75411715 A G het . 5 +intronic LHX8 chr1 75614381 75614381 T - het . 11 +intronic LHX8 chr1 75621855 75621855 A T het . 9 +intronic LHX8 chr1 75621896 75621898 TTG - het . 7 +intronic SLC44A5 chr1 75687614 75687614 G A het . 3 +intronic SLC44A5 chr1 75708568 75708568 T G het . 7 +intronic SLC44A5 chr1 75713530 75713530 A - het . 2 +intronic SLC44A5 chr1 75713532 75713532 A T het . 2 +intronic SLC44A5 chr1 75715255 75715255 C T het . 1 +intronic SLC44A5 chr1 75772242 75772242 C A het . 3 +intergenic SLC44A5(dist=25267),ACADM(dist=83070) chr1 76106961 76106962 TT AC het . 3 +intergenic SLC44A5(dist=26194),ACADM(dist=82144) chr1 76107888 76107888 C G het . 4 +intronic ACADM chr1 76194230 76194230 T - het . 19 +intronic ACADM chr1 76198033 76198033 A G het . 2 +ncRNA_exonic DLSTP1 chr1 76209879 76209879 G T het . 20 +intronic RABGGTB chr1 76255761 76255761 C A het . 18 +intronic MSH4 chr1 76272554 76272554 A G het . 5 +intronic MSH4 chr1 76272654 76272654 A T het . 3 +intronic MSH4 chr1 76313874 76313874 C T het . 15 +intronic MSH4 chr1 76315845 76315845 T C het . 2 +intronic MSH4 chr1 76378361 76378361 T A het . 6 +intergenic ASB17(dist=69238),LOC101927342(dist=9655) chr1 76467354 76467354 G A het . 2 +intergenic LOC101927342(dist=51072),ST6GALNAC3(dist=4256) chr1 76536113 76536113 T A het . 2 +intronic ST6GALNAC3 chr1 76661827 76661827 T C het . 2 +intronic ST6GALNAC3 chr1 76669314 76669314 T - het . 3 +UTR3 ST6GALNAC3(NM_001349110:c.*77G>C,NM_001160011:c.*91G>C) chr1 77042631 77042631 G C het . 4 +intergenic ST6GALNAC3(dist=37884),LINC02567(dist=82924) chr1 77140885 77140885 G A het . 4 +intergenic ST6GALNAC3(dist=63709),LINC02567(dist=57099) chr1 77166710 77166710 A T het . 2 +intronic PIGK chr1 77558234 77558234 A G het . 14 +intronic PIGK chr1 77595400 77595403 AAAT - het . 20 +intronic PIGK chr1 77660479 77660479 G A het . 3 +intronic ZZZ3 chr1 78033982 78033986 AAATG - het . 12 +intronic ZZZ3 chr1 78036366 78036366 T A het . 2 +intronic ZZZ3 chr1 78065423 78065423 A C het . 2 +intronic ZZZ3 chr1 78065439 78065439 G T het . 1 +intronic ZZZ3 chr1 78101582 78101582 C T het . 3 +intronic ZZZ3 chr1 78101584 78101584 C T het . 3 +intronic USP33 chr1 78163754 78163754 T - het . 6 +intronic MIGA1 chr1 78338475 78338475 T C het . 3 +intronic NEXN chr1 78403856 78403856 T A het . 2 +intronic DNAJB4 chr1 78471060 78471060 - C het . 4 +intronic DNAJB4 chr1 78477804 78477804 - AAGAC het . 4 +intronic DNAJB4 chr1 78477829 78477833 TTTTC - het . 1 +intronic DNAJB4 chr1 78478675 78478675 G A het . 2 +upstream GIPC2(dist=676) chr1 78509970 78509970 T - het . 2 +intronic GIPC2 chr1 78557418 78557418 A G het . 30 +intronic GIPC2 chr1 78583628 78583628 T G het . 2 +intergenic GIPC2(dist=12461),MGC27382(dist=78689) chr1 78616594 78616594 G A het . 1 +ncRNA_intronic MGC27382 chr1 78745366 78745366 - CAAA het . 4 +exonic IFI44L chr1 79093614 79093614 C A het . 10 +intronic IFI44L chr1 79102677 79102677 C A het . 10 +intergenic IFI44(dist=86048),ADGRL4(dist=139638) chr1 79215811 79215811 C T het . 40 +intronic ADGRL4 chr1 79358773 79358773 A C het . 13 +intronic ADGRL4 chr1 79424660 79424660 C T het . 1 +intergenic ADGRL4(dist=267066),LINC01781(dist=1261879) chr1 79739561 79739561 C A het . 2 +intergenic ADGRL4(dist=1096679),LINC01781(dist=432266) chr1 80569174 80569174 G A het . 4 +intergenic ADGRL4(dist=1099311),LINC01781(dist=429634) chr1 80571806 80571806 G C het . 1 +intergenic ADGRL4(dist=1114719),LINC01781(dist=414226) chr1 80587214 80587214 G A het . 2 +intergenic ADGRL4(dist=1424893),LINC01781(dist=104052) chr1 80897388 80897388 A G het . 3 +intergenic ADGRL4(dist=1445015),LINC01781(dist=83930) chr1 80917510 80917510 A T het . 12 +intergenic ADGRL4(dist=1445031),LINC01781(dist=83914) chr1 80917526 80917526 C A het . 14 +intergenic ADGRL4(dist=1445055),LINC01781(dist=83890) chr1 80917550 80917550 T G het . 12 +intergenic LINC01781(dist=342255),LOC101927434(dist=524837) chr1 81454728 81454728 C G het . 1 +intergenic LINC01781(dist=371405),LOC101927434(dist=495687) chr1 81483878 81483878 T C het . 1 +intergenic LINC01781(dist=428898),LOC101927434(dist=438194) chr1 81541371 81541371 T C het . 1 +intergenic LINC01781(dist=428911),LOC101927434(dist=438181) chr1 81541384 81541384 G T het . 2 +intergenic LINC01781(dist=780012),LOC101927434(dist=87080) chr1 81892485 81892485 C T het . 13 +intergenic LINC01781(dist=780034),LOC101927434(dist=87058) chr1 81892507 81892507 A T het . 16 +intergenic LINC01781(dist=780501),LOC101927434(dist=86591) chr1 81892974 81892974 C T het . 12 +intergenic LINC01781(dist=780512),LOC101927434(dist=86580) chr1 81892985 81892985 T C het . 8 +intergenic LINC01781(dist=829358),LOC101927434(dist=37731) chr1 81941831 81941834 AGAA - het . 3 +intergenic LINC01781(dist=855023),LOC101927434(dist=12069) chr1 81967496 81967496 A G het . 14 +intergenic LINC01781(dist=855035),LOC101927434(dist=12057) chr1 81967508 81967508 A G het . 14 +intergenic LINC01781(dist=855039),LOC101927434(dist=12053) chr1 81967512 81967512 A C het . 14 +intronic ADGRL2 chr1 82187543 82187543 - A het . 28 +intronic ADGRL2 chr1 82207364 82207364 T C het . 2 +intronic ADGRL2 chr1 82269605 82269605 T C het . 2 +intronic ADGRL2 chr1 82291995 82291995 A G het . 1 +intronic ADGRL2 chr1 82325665 82325665 T C het . 3 +intronic ADGRL2 chr1 82343393 82343393 A - het . 2 +intergenic ADGRL2(dist=45530),LINC01362(dist=863720) chr1 82505146 82505146 G A het . 3 +intergenic ADGRL2(dist=708961),LINC01362(dist=200289) chr1 83168577 83168577 A G het . 1 +intergenic ADGRL2(dist=711621),LINC01362(dist=197629) chr1 83171237 83171237 G A het . 1 +intergenic ADGRL2(dist=759033),LINC01362(dist=150217) chr1 83218649 83218649 C G het . 2 +intergenic LINC01712(dist=49262),LINC01725(dist=71755) chr1 83969716 83969716 A G het . 2 +ncRNA_intronic LINC01725 chr1 84096279 84096279 A T het . 2 +ncRNA_intronic LINC01725 chr1 84139541 84139541 A C het . 2 +intronic TTLL7 chr1 84355735 84355748 AGAACTTCAAGGAT - het . 24 +intronic TTLL7 chr1 84386709 84386709 G A het . 15 +intronic TTLL7 chr1 84414483 84414483 C A het . 6 +exonic TTLL7 chr1 84417585 84417585 T C het . 28 +intronic PRKACB chr1 84668231 84668231 C A het . 2 +intronic SAMD13 chr1 84791239 84791239 T C het . 2 +intergenic UOX(dist=3798),DNASE2B(dist=9933) chr1 84854282 84854282 C T het . 2 +exonic DNASE2B chr1 84867610 84867610 G A het . 1 +intergenic DNASE2B(dist=16017),RPF1(dist=48212) chr1 84896708 84896708 - T het . 4 +intergenic DNASE2B(dist=34771),RPF1(dist=29458) chr1 84915462 84915462 C A het . 3 +intronic RPF1 chr1 84946464 84946464 C T het . 6 +intronic SPATA1 chr1 84986214 84986214 T - het . 13 +exonic CTBS chr1 85039999 85040007 GCAGCGCCA - het . 18 +intergenic CTBS(dist=20348),LINC01461(dist=3136) chr1 85060511 85060511 G A het . 1 +exonic SSX2IP chr1 85113203 85113203 T C het . 14 +exonic SSX2IP chr1 85113229 85113229 A G het . 19 +intronic SSX2IP chr1 85128280 85128280 T C het . 8 +intronic SSX2IP chr1 85128305 85128305 G C het . 3 +intergenic SSX2IP(dist=56479),LPAR3(dist=66367) chr1 85212719 85212719 A T het . 2 +intergenic MCOLN3(dist=12712),WDR63(dist=1046) chr1 85526935 85526935 - TTAT het . 2 +intronic WDR63 chr1 85528483 85528483 C G het . 2 +intronic WDR63 chr1 85564138 85564138 A G het . 5 +intronic WDR63 chr1 85597147 85597147 T A het . 1 +intergenic MIR4423(dist=22507),SYDE2(dist=1293) chr1 85622063 85622063 C G het . 2 +UTR3 SYDE2(NM_032184:c.*104C>T) chr1 85624329 85624329 G A het . 5 +exonic SYDE2 chr1 85624549 85624549 C T het . 25 +intronic BCL10 chr1 85741968 85741968 G C het . 15 +UTR3 DDAH1(NM_012137:c.*21T>A,NM_001134445:c.*21T>A,NM_001330655:c.*21T>A) chr1 85787114 85787114 A T het . 12 +UTR3 DDAH1(NM_012137:c.*17C>G,NM_001134445:c.*17C>G,NM_001330655:c.*17C>G) chr1 85787118 85787118 G C het . 12 +intronic DDAH1 chr1 85790633 85790633 G A het . 2 +intronic DDAH1 chr1 85932419 85932419 T C het . 4 +intronic DDAH1 chr1 85955679 85955679 T C het . 4 +intronic DDAH1 chr1 85956727 85956727 T C het . 2 +intronic DDAH1 chr1 85966003 85966003 A G het . 2 +intronic DDAH1 chr1 85985466 85985472 AAACATT - het . 2 +intronic DDAH1 chr1 85985500 85985500 C T het . 2 +intronic COL24A1 chr1 86207749 86207749 C T het . 2 +intronic COL24A1 chr1 86225754 86225754 - TTTG het . 1 +intronic COL24A1 chr1 86226926 86226926 G A het . 5 +intronic COL24A1 chr1 86241400 86241400 A - het . 27 +intronic COL24A1 chr1 86330589 86330589 A G het . 2 +intronic COL24A1 chr1 86554813 86554813 - A het . 11 +intronic COL24A1 chr1 86554821 86554821 G A het . 11 +intergenic COL24A1(dist=144592),ODF2L(dist=45761) chr1 86766746 86766746 G A het . 1 +intronic ODF2L chr1 86850624 86850624 T G het . 3 +intronic CLCA2 chr1 86920572 86920572 A - het . 2 +exonic CLCA2 chr1 86921129 86921129 C A het . 10 +intronic CLCA1 chr1 86959796 86959796 C T het . 2 +intronic CLCA4 chr1 87025819 87025819 T C het . 10 +ncRNA_intronic LOC105378828 chr1 87044893 87044893 C G het . 2 +exonic CLCA4 chr1 87045897 87045902 CCTACA - het . 26 +intronic SH3GLB1 chr1 87203928 87203931 TTTG - het . 3 +intergenic SH3GLB1(dist=46210),SELENOF(dist=68051) chr1 87260077 87260077 A G het . 1 +intergenic SH3GLB1(dist=50372),SELENOF(dist=63889) chr1 87264239 87264239 G T het . 1 +intronic HS2ST1 chr1 87384620 87384620 A G het . 2 +intronic HS2ST1 chr1 87512392 87512392 T C het . 3 +intronic HS2ST1 chr1 87538426 87538426 G A het . 4 +intronic HS2ST1 chr1 87552604 87552604 - ATT het . 3 +intergenic LINC01364(dist=134802),PKN2-AS1(dist=1031056) chr1 87972140 87972140 G A het . 2 +intergenic LINC01364(dist=198542),PKN2-AS1(dist=967316) chr1 88035880 88035880 T G het . 3 +intergenic LINC01364(dist=201193),PKN2-AS1(dist=964660) chr1 88038531 88038536 AAAAAG - het . 1 +intergenic LINC01364(dist=382547),PKN2-AS1(dist=783311) chr1 88219885 88219885 G A het . 2 +intergenic LINC01364(dist=675489),PKN2-AS1(dist=490365) chr1 88512827 88512831 AGAAC - het . 13 +intergenic LINC01364(dist=773110),PKN2-AS1(dist=392748) chr1 88610448 88610448 A T het . 1 +intergenic LINC01364(dist=870155),PKN2-AS1(dist=295703) chr1 88707493 88707493 A - het . 2 +intergenic LINC01364(dist=996209),PKN2-AS1(dist=169649) chr1 88833547 88833547 G T het . 1 +intergenic LINC01364(dist=1127238),PKN2-AS1(dist=38615) chr1 88964576 88964581 TTTTTC - het . 1 +intronic PKN2 chr1 89280965 89280965 A G het . 5 +intronic PKN2 chr1 89286593 89286593 T C het . 2 +intronic PKN2 chr1 89289955 89289955 T - het . 7 +intronic KYAT3 chr1 89419575 89419575 T C het . 2 +exonic KYAT3 chr1 89426902 89426902 G A het . 10 +intronic KYAT3 chr1 89427252 89427252 G A het . 6 +exonic RBMXL1 chr1 89449509 89449510 TT - het . 22 +intronic GBP3 chr1 89475230 89475230 T G het . 6 +intergenic GBP1(dist=35112),GBP2(dist=5661) chr1 89566155 89566155 T C het . 1 +exonic GBP7 chr1 89599013 89599013 G T het . 44 +exonic GBP7 chr1 89599037 89599037 A G het . 48 +exonic GBP7 chr1 89599070 89599070 T C het . 33 +intronic GBP7 chr1 89602691 89602691 G C het . 2 +exonic GBP4 chr1 89652071 89652072 TC CT het . 14 +exonic GBP4 chr1 89652078 89652078 A T het . 12 +upstream LOC729930(dist=15) chr1 89756060 89756060 G T het . 5 +intergenic LOC729930(dist=12001),GBP6(dist=61390) chr1 89768046 89768046 G - het . 2 +ncRNA_intronic GBP1P1 chr1 89889427 89889427 C G het . 2 +ncRNA_intronic GBP1P1 chr1 89889438 89889438 C T het . 2 +exonic LRRC8B chr1 90058372 90058372 C A het . 28 +exonic LRRC8C chr1 90178803 90178803 C A het . 17 +intronic ZNF326 chr1 90475947 90475947 A G het . 15 +exonic ZNF326 chr1 90493026 90493026 G A het . 43 +intergenic ZNF326(dist=36936),SNORD3G(dist=585282) chr1 90538025 90538025 C A het . 2 +intergenic ZNF326(dist=253506),SNORD3G(dist=368712) chr1 90754595 90754595 A C het . 2 +intergenic ZNF326(dist=253513),SNORD3G(dist=368705) chr1 90754602 90754602 G - het . 2 +intergenic ZNF326(dist=253517),SNORD3G(dist=368701) chr1 90754606 90754606 C G het . 2 +intergenic BARHL2(dist=13305),LOC105378853(dist=52442) chr1 91196099 91196099 A G het . 2 +exonic ZNF644 chr1 91403396 91403396 C A het . 25 +exonic ZNF644 chr1 91403431 91403431 C T het . 30 +intronic ZNF644 chr1 91448185 91448185 T A het . 4 +intergenic ZNF644(dist=74712),HFM1(dist=163799) chr1 91562524 91562524 A G het . 3 +intronic HFM1 chr1 91742420 91742422 ATT - het . 21 +intronic HFM1 chr1 91779203 91779203 T C het . 5 +intronic HFM1 chr1 91787002 91787005 AAAT - het . 2 +intronic HFM1 chr1 91787039 91787039 A C het . 2 +intronic HFM1 chr1 91794248 91794248 G A het . 8 +intronic HFM1 chr1 91815042 91815043 TC - het . 2 +intronic HFM1 chr1 91841301 91841301 T C het . 16 +intronic CDC7 chr1 91978963 91978963 - AA het . 3 +intergenic CDC7(dist=21618),TGFBR3(dist=132961) chr1 92012939 92012939 G T het . 2 +intergenic CDC7(dist=30290),TGFBR3(dist=124289) chr1 92021611 92021611 C T het . 1 +intergenic CDC7(dist=116954),TGFBR3(dist=37625) chr1 92108275 92108275 A - het . 15 +UTR3 TGFBR3(NM_001195684:c.*1693_*1694insT,NM_001195683:c.*1693_*1694insT,NM_003243:c.*1693_*1694insT) chr1 92147602 92147602 - A het . 27 +UTR3 TGFBR3(NM_001195684:c.*1283G>A,NM_001195683:c.*1283G>A,NM_003243:c.*1283G>A) chr1 92148013 92148013 C T het . 23 +UTR3 TGFBR3(NM_001195684:c.*833G>T,NM_001195683:c.*833G>T,NM_003243:c.*833G>T) chr1 92148463 92148463 C A het . 25 +intronic TGFBR3 chr1 92200819 92200819 C T het . 2 +intronic TGFBR3 chr1 92263077 92263077 C A het . 16 +UTR5 TGFBR3(NM_001195683:c.-24544G>T,NM_003243:c.-24544G>T) chr1 92351632 92351632 C A het . 25 +intergenic TGFBR3(dist=28548),BRDT(dist=14821) chr1 92400107 92400107 T C het . 2 +intergenic TGFBR3(dist=28567),BRDT(dist=14802) chr1 92400126 92400126 T G het . 2 +intronic BRDT chr1 92425621 92425621 G T het . 1 +intronic BRDT chr1 92434352 92434352 A G het . 2 +intronic BRDT chr1 92450195 92450195 A T het . 2 +intronic BTBD8 chr1 92591916 92591916 G A het . 15 +intronic BTBD8 chr1 92592063 92592063 - G het . 16 +intronic BTBD8 chr1 92592064 92592064 - A het . 16 +intronic KIAA1107 chr1 92641069 92641069 T C het . 2 +exonic KIAA1107 chr1 92642927 92642927 C A het . 27 +intronic GLMN chr1 92712266 92712266 C T het . 22 +intronic GLMN chr1 92712599 92712600 AA - het . 24 +exonic GLMN chr1 92735308 92735308 T G het . 32 +intronic GLMN chr1 92763092 92763092 A - het . 11 +intronic RPAP2 chr1 92765880 92765880 - T het . 6 +intronic RPAP2 chr1 92797207 92797207 T C het . 4 +intronic EVI5 chr1 93159469 93159469 - A het . 9 +intronic EVI5 chr1 93159821 93159821 - A het . 12 +intronic EVI5 chr1 93161326 93161326 C T het . 3 +intronic EVI5 chr1 93193551 93193551 A - het . 2 +intronic EVI5 chr1 93193575 93193575 - A het . 2 +intergenic EVI5(dist=7853),RPL5(dist=31783) chr1 93265814 93265814 T C het . 2 +intergenic EVI5(dist=31229),RPL5(dist=8407) chr1 93289190 93289190 G C het . 3 +intronic FAM69A chr1 93426866 93426866 T C het . 5 +intronic FAM69A chr1 93426869 93426869 G C het . 5 +intronic MTF2 chr1 93552187 93552187 C G het . 1 +intronic MTF2 chr1 93572076 93572076 C A het . 1 +intronic MTF2 chr1 93572078 93572079 TT - het . 1 +intronic MTF2 chr1 93572097 93572097 A C het . 2 +intronic MTF2 chr1 93580135 93580135 A G het . 4 +intronic MTF2 chr1 93584199 93584199 G A het . 4 +intergenic MTF2(dist=3654),TMED5(dist=7007) chr1 93608292 93608292 A G het . 2 +UTR5 CCDC18(NM_206886:c.-2486T>C,NM_001306076:c.-2486T>C) chr1 93646433 93646433 T C het . 13 +intronic CCDC18 chr1 93658989 93658989 C A het . 3 +intronic CCDC18 chr1 93673899 93673899 G T het . 1 +intronic CCDC18 chr1 93680711 93680711 A T het . 1 +intronic CCDC18 chr1 93680736 93680736 G A het . 2 +intronic CCDC18 chr1 93687526 93687526 T G het . 12 +intronic CCDC18 chr1 93687529 93687529 T - het . 12 +intronic CCDC18 chr1 93702119 93702119 A T het . 3 +intronic CCDC18 chr1 93704726 93704726 - A het . 7 +intronic CCDC18 chr1 93704794 93704794 T - het . 4 +intronic BCAR3 chr1 94055048 94055048 C A het . 3 +intronic BCAR3 chr1 94197793 94197793 A G het . 1 +intronic ABCA4 chr1 94563476 94563476 T G het . 2 +intronic ABCA4 chr1 94568491 94568491 A G het . 13 +intronic ABCA4 chr1 94568510 94568510 C A het . 16 +intergenic ABCA4(dist=1376),ARHGAP29(dist=46382) chr1 94588081 94588081 - TGA het . 4 +UTR3 ARHGAP29(NM_001328664:c.*88T>C,NM_001328667:c.*88T>C,NM_001328666:c.*88T>C,NM_001328665:c.*88T>C,NM_004815:c.*88T>C) chr1 94639337 94639337 A G het . 5 +intronic ARHGAP29 chr1 94643144 94643144 T - het . 13 +intronic ARHGAP29 chr1 94658569 94658569 A C het . 2 +intergenic ARHGAP29(dist=14620),ABCD3(dist=155997) chr1 94727936 94727936 T C het . 2 +intronic ABCD3 chr1 94921128 94921128 A G het . 2 +intronic ABCD3 chr1 94940443 94940443 A - het . 3 +UTR3 ABCD3(NM_002858:c.*91_*92insT) chr1 94982776 94982776 - T het . 9 +intronic CNN3 chr1 95373737 95373737 A T het . 2 +downstream LOC729970(dist=694) chr1 95429520 95429520 G C het . 1 +intronic RWDD3,TMEM56-RWDD3 chr1 95705533 95705533 T A het . 7 +intergenic RWDD3(dist=15409),LINC01760(dist=48294) chr1 95728190 95728190 C T het . 1 +intergenic LINC01650(dist=13553),LINC01761(dist=109077) chr1 95831216 95831216 - AC het . 2 +intergenic LINC01650(dist=13557),LINC01761(dist=109073) chr1 95831220 95831220 C A het . 2 +intergenic LOC100996635(dist=42392),LOC102723661(dist=434212) chr1 96023412 96023412 C T het . 1 +intergenic LOC100996635(dist=239883),LOC102723661(dist=236721) chr1 96220903 96220903 G A het . 1 +intergenic LOC100996635(dist=310349),LOC102723661(dist=166255) chr1 96291369 96291369 G A het . 1 +intergenic LOC100996635(dist=465453),LOC102723661(dist=11151) chr1 96446473 96446473 T - het . 2 +ncRNA_intronic LOC102723661 chr1 96464377 96464377 T C het . 2 +intergenic LOC102723661(dist=86060),LINC01787(dist=145129) chr1 96574496 96574496 T - het . 4 +intergenic LOC102723661(dist=181032),LINC01787(dist=50157) chr1 96669468 96669468 C - het . 2 +intergenic LINC01787(dist=16752),PTBP2(dist=330728) chr1 96856433 96856433 G T het . 11 +intergenic LINC01787(dist=16755),PTBP2(dist=330725) chr1 96856436 96856436 G T het . 11 +intergenic LINC01787(dist=304657),PTBP2(dist=42823) chr1 97144338 97144338 C T het . 3 +ncRNA_intronic DPYD-AS1 chr1 97700276 97700276 C A het . 15 +ncRNA_intronic DPYD-AS1 chr1 97700589 97700589 C T het . 16 +ncRNA_intronic DPYD-AS1 chr1 97760915 97760915 - AA het . 3 +ncRNA_intronic DPYD-AS1 chr1 97760936 97760936 C T het . 2 +ncRNA_intronic DPYD-AS1 chr1 97779384 97779384 C T het . 1 +intronic DPYD chr1 97871455 97871455 A T het . 1 +intronic DPYD chr1 97981242 97981243 TG CA het . 20 +intronic DPYD chr1 98062039 98062039 C T het . 2 +exonic DPYD chr1 98144726 98144726 T C het . 23 +intergenic MIR137HG(dist=156016),LINC01776(dist=5002) chr1 98671265 98671265 A G het . 2 +intergenic LINC01776(dist=78084),SNX7(dist=310938) chr1 98816298 98816298 T C het . 1 +intergenic LINC01776(dist=180220),SNX7(dist=208802) chr1 98918434 98918434 T G het . 1 +intergenic LINC01776(dist=244921),SNX7(dist=144101) chr1 98983135 98983135 G A het . 2 +intergenic LINC01776(dist=244942),SNX7(dist=144080) chr1 98983156 98983156 T C het . 2 +intronic SNX7 chr1 99147707 99147707 G T het . 3 +intronic SNX7 chr1 99156895 99156895 T - het . 2 +intronic SNX7 chr1 99164247 99164247 T - het . 7 +intronic SNX7 chr1 99167216 99167216 A - het . 4 +ncRNA_intronic LOC100129620 chr1 99585796 99585796 T C het . 1 +intergenic LINC01708(dist=94750),PALMD(dist=63321) chr1 100048110 100048110 A - het . 4 +intergenic LINC01708(dist=94755),PALMD(dist=63313) chr1 100048115 100048118 AAAA - het . 4 +intronic PALMD chr1 100152799 100152799 G A het . 15 +intergenic FRRS1(dist=10540),AGL(dist=72917) chr1 100242723 100242723 - TTTA het . 2 +intergenic FRRS1(dist=53448),AGL(dist=30009) chr1 100285631 100285631 G A het . 4 +intergenic FRRS1(dist=53452),AGL(dist=30005) chr1 100285635 100285635 A G het . 3 +intronic AGL chr1 100340225 100340225 G A het . 19 +intronic AGL chr1 100346410 100346410 C A het . 19 +intronic AGL chr1 100366447 100366449 TTT - het . 13 +intronic AGL chr1 100376448 100376448 G A het . 11 +intronic AGL chr1 100376456 100376456 T A het . 12 +UTR3 MFSD14A(NM_033055:c.*229T>C) chr1 100547994 100547994 T C het . 2 +intronic SASS6 chr1 100572824 100572824 - AA het . 14 +intronic SASS6 chr1 100584315 100584316 AG - het . 3 +intronic SASS6 chr1 100587250 100587250 A C het . 4 +exonic TRMT13 chr1 100598866 100598867 GC AT het . 20 +intronic LRRC39 chr1 100618225 100618225 A G het . 2 +intronic DBT chr1 100671861 100671861 T - het . 27 +intronic DBT chr1 100671866 100671866 T A het . 27 +intronic DBT chr1 100678993 100678993 A C het . 4 +intronic DBT chr1 100680594 100680594 T - het . 17 +intronic DBT chr1 100684343 100684343 T - het . 18 +intronic DBT chr1 100685204 100685204 T C het . 2 +intronic DBT chr1 100685209 100685209 C G het . 2 +intronic DBT chr1 100696185 100696185 - A het . 3 +intronic RTCA chr1 100750734 100750738 GTTTT - het . 6 +intergenic RTCA(dist=2197),CDC14A(dist=50049) chr1 100760522 100760522 T C het . 2 +intergenic RTCA(dist=39532),CDC14A(dist=12714) chr1 100797857 100797857 G A het . 6 +intergenic GPR88(dist=11845),LINC01349(dist=73178) chr1 101019428 101019428 A T het . 1 +intergenic GPR88(dist=31689),LINC01349(dist=53334) chr1 101039272 101039272 C A het . 2 +intronic SLC30A7 chr1 101407352 101407352 G T het . 9 +intronic DPH5 chr1 101456192 101456192 - A het . 7 +intergenic LOC102606465(dist=108531),LOC101928370(dist=38963) chr1 101661466 101661466 C T het . 2 +intergenic S1PR1(dist=15071),LINC01307(dist=67246) chr1 101722147 101722147 G T het . 6 +intergenic LINC01307(dist=64586),OLFM3(dist=360668) chr1 101907455 101907455 T - het . 3 +intergenic LINC01307(dist=93200),OLFM3(dist=332054) chr1 101936069 101936069 C - het . 2 +intergenic LINC01307(dist=408899),OLFM3(dist=16354) chr1 102251768 102251769 TT - het . 2 +UTR5 OLFM3(NM_001288823:c.-166016G>T,NM_058170:c.-18G>T) chr1 102462390 102462390 C A het . 21 +UTR5 OLFM3(NM_001288823:c.-166073_-166077delACTGA,NM_058170:c.-75_-79delACTGA) chr1 102462447 102462451 TCAGT - het . 10 +intergenic OLFM3(dist=212569),COL11A1(dist=666664) chr1 102675359 102675359 G A het . 1 +intergenic OLFM3(dist=212579),COL11A1(dist=666654) chr1 102675369 102675369 C T het . 1 +intergenic OLFM3(dist=419090),COL11A1(dist=460143) chr1 102881880 102881880 A - het . 3 +intergenic OLFM3(dist=425096),COL11A1(dist=454137) chr1 102887886 102887886 - AAAT het . 3 +intergenic OLFM3(dist=546928),COL11A1(dist=332305) chr1 103009718 103009718 G A het . 2 +intergenic OLFM3(dist=579206),COL11A1(dist=300025) chr1 103041996 103041998 TTA - het . 2 +intergenic OLFM3(dist=579213),COL11A1(dist=300015) chr1 103042003 103042008 TTTATT - het . 2 +intergenic OLFM3(dist=590440),COL11A1(dist=288793) chr1 103053230 103053230 G A het . 3 +intergenic OLFM3(dist=602273),COL11A1(dist=276960) chr1 103065063 103065063 - TG het . 2 +intergenic OLFM3(dist=756482),COL11A1(dist=122751) chr1 103219272 103219272 C - het . 2 +intergenic OLFM3(dist=797986),COL11A1(dist=81247) chr1 103260776 103260776 G C het . 2 +intronic COL11A1 chr1 103352773 103352773 C T het . 10 +intronic COL11A1 chr1 103352801 103352801 G A het . 7 +intronic COL11A1 chr1 103380379 103380379 - A het . 14 +exonic COL11A1 chr1 103387081 103387081 C T het . 28 +intronic COL11A1 chr1 103404384 103404384 T C het . 3 +intronic COL11A1 chr1 103420630 103420631 AT TA het . 2 +intronic COL11A1 chr1 103435626 103435626 G A het . 8 +intronic COL11A1 chr1 103496806 103496807 AA - het . 21 +intronic COL11A1 chr1 103537426 103537429 TATA - het . 1 +intronic COL11A1 chr1 103539981 103539981 A G het . 1 +intronic COL11A1 chr1 103573518 103573518 T - het . 1 +intronic COL11A1 chr1 103573535 103573535 G T het . 1 +intronic COL11A1 chr1 103573547 103573547 G A het . 5 +intergenic COL11A1(dist=86060),LOC101928436(dist=299591) chr1 103660112 103660112 G A het . 3 +intergenic COL11A1(dist=113691),LOC101928436(dist=271960) chr1 103687743 103687743 A T het . 3 +intergenic COL11A1(dist=201357),LOC101928436(dist=184294) chr1 103775409 103775409 C T het . 2 +intergenic COL11A1(dist=201373),LOC101928436(dist=184278) chr1 103775425 103775425 T - het . 2 +intergenic COL11A1(dist=204923),LOC101928436(dist=180728) chr1 103778975 103778975 T C het . 2 +exonic RNPC3 chr1 104076462 104076462 C T het . 22 +intronic RNPC3 chr1 104076495 104076495 A G het . 16 +intronic RNPC3 chr1 104079868 104079868 A C het . 3 +intronic AMY2B chr1 104117683 104117686 TATA - het . 7 +intergenic AMY1C(dist=3840),AMY1C(dist=19021) chr1 104211016 104211016 C T het . 12 +intergenic AMY1C(dist=12010),LOC100129138(dist=302321) chr1 104313324 104313324 A G het . 3 +intergenic AMY1C(dist=22155),LOC100129138(dist=292176) chr1 104323469 104323469 G A het . 2 +intergenic AMY1C(dist=211673),LOC100129138(dist=102657) chr1 104512987 104512988 TT - het . 2 +intergenic AMY1C(dist=253536),LOC100129138(dist=60795) chr1 104554850 104554850 A - het . 2 +intergenic AMY1C(dist=253554),LOC100129138(dist=60777) chr1 104554868 104554868 G A het . 2 +intergenic LOC100129138(dist=243405),LINC01676(dist=1269218) chr1 104863098 104863098 C A het . 2 +intergenic LOC100129138(dist=535840),LINC01676(dist=976783) chr1 105155533 105155533 T C het . 2 +intergenic LOC100129138(dist=547521),LINC01676(dist=965102) chr1 105167214 105167214 A G het . 2 +intergenic LOC100129138(dist=566779),LINC01676(dist=945844) chr1 105186472 105186472 A G het . 1 +intergenic LOC100129138(dist=656211),LINC01676(dist=856412) chr1 105275904 105275904 G C het . 2 +intergenic LOC100129138(dist=721540),LINC01676(dist=791083) chr1 105341233 105341233 T C het . 1 +intergenic LOC100129138(dist=753577),LINC01676(dist=759046) chr1 105373270 105373270 A - het . 3 +intergenic LOC100129138(dist=826535),LINC01676(dist=686088) chr1 105446228 105446228 A C het . 3 +intergenic LOC100129138(dist=889514),LINC01676(dist=623109) chr1 105509207 105509207 T C het . 2 +intergenic LOC100129138(dist=898547),LINC01676(dist=614076) chr1 105518240 105518240 A G het . 1 +intergenic LOC100129138(dist=938154),LINC01676(dist=574469) chr1 105557847 105557847 T G het . 2 +intergenic LOC100129138(dist=1242848),LINC01676(dist=269775) chr1 105862541 105862541 G A het . 2 +intergenic LOC100129138(dist=1242873),LINC01676(dist=269750) chr1 105862566 105862566 A G het . 3 +intergenic LOC100129138(dist=1322880),LINC01676(dist=189743) chr1 105942573 105942573 G C het . 2 +intergenic LOC100129138(dist=1361707),LINC01676(dist=150916) chr1 105981400 105981400 G T het . 2 +intergenic LOC100129138(dist=1496151),LINC01676(dist=16472) chr1 106115844 106115844 G T het . 2 +intergenic LOC100129138(dist=1496184),LINC01676(dist=16439) chr1 106115877 106115877 C T het . 2 +intergenic LOC100129138(dist=1504376),LINC01676(dist=8247) chr1 106124069 106124069 T A het . 2 +intergenic LINC01676(dist=161425),LINC01677(dist=147264) chr1 106322982 106322982 A G het . 2 +intergenic LINC01676(dist=274832),LINC01677(dist=33857) chr1 106436389 106436389 T - het . 2 +intergenic LINC01676(dist=283036),LINC01677(dist=25650) chr1 106444593 106444596 AATT - het . 2 +intergenic LINC01677(dist=312482),LINC01661(dist=477504) chr1 106883357 106883357 - AA het . 2 +intergenic LINC01677(dist=636644),LINC01661(dist=153342) chr1 107207519 107207519 A T het . 2 +intergenic LINC01661(dist=100653),PRMT6(dist=117799) chr1 107481468 107481468 C T het . 1 +intronic NTNG1 chr1 107849538 107849538 G A het . 1 +intronic VAV3 chr1 108299776 108299783 TGTGTGTG - het . 3 +intronic VAV3 chr1 108299809 108299809 G A het . 10 +intronic VAV3 chr1 108315256 108315256 G C het . 6 +intronic VAV3 chr1 108417352 108417352 - TTG het . 5 +downstream HENMT1(dist=254) chr1 109190656 109190656 G C het . 1 +intronic HENMT1 chr1 109192099 109192099 A G het . 11 +intergenic HENMT1(dist=6276),PRPF38B(dist=24508) chr1 109210424 109210424 A G het . 2 +intronic FNDC7 chr1 109265326 109265326 G C het . 3 +intronic STXBP3 chr1 109349880 109349892 AAAAAAAAAAAAA - het . 9 +exonic GPSM2 chr1 109457023 109457023 C T het . 31 +intronic GPSM2 chr1 109461634 109461634 - T het . 8 +intronic CLCC1 chr1 109505913 109505913 A C het . 7 +intronic CLCC1 chr1 109505947 109505947 A C het . 5 +intronic WDR47 chr1 109529322 109529322 - AA het . 9 +intronic WDR47 chr1 109560373 109560373 T - het . 9 +intronic WDR47 chr1 109576837 109576837 G A het . 2 +exonic KIAA1324 chr1 109714606 109714606 C A het . 15 +intronic KIAA1324 chr1 109727475 109727475 T C het . 3 +exonic KIAA1324 chr1 109735416 109735416 A C het . 13 +intronic KIAA1324 chr1 109740312 109740312 T A het . 6 +intronic KIAA1324 chr1 109740314 109740314 T A het . 6 +intronic KIAA1324 chr1 109740316 109740316 T A het . 6 +exonic CELSR2 chr1 109792735 109792735 - CGC het . 10 +exonic PSRC1 chr1 109824295 109824295 C A het . 13 +intronic MYBPHL chr1 109839954 109839954 G C het . 1 +intergenic PSMA5(dist=38528),SYPL2(dist=1464) chr1 110007636 110007636 G C het . 2 +intergenic PSMA5(dist=38544),SYPL2(dist=1448) chr1 110007652 110007652 G A het . 1 +intronic SYPL2 chr1 110012123 110012123 A T het . 4 +intergenic AMIGO1(dist=5969),GPR61(dist=24152) chr1 110058342 110058342 T C het . 2 +exonic GPR61 chr1 110086382 110086382 C A het . 12 +intronic GNAI3 chr1 110129583 110129583 T - het . 8 +intronic GSTM5 chr1 110255686 110255686 C A het . 12 +intronic GSTM3 chr1 110279914 110279914 C T het . 4 +intergenic EPS8L3(dist=49144),CSF1(dist=97443) chr1 110355788 110355790 TTC - het . 5 +intergenic EPS8L3(dist=49200),CSF1(dist=97384) chr1 110355844 110355849 CTTCTC - het . 4 +intergenic EPS8L3(dist=69819),CSF1(dist=76770) chr1 110376463 110376463 C A het . 1 +intergenic CSF1(dist=5244),AHCYL1(dist=48526) chr1 110478860 110478861 GT AC het . 3 +intergenic CSF1(dist=7171),AHCYL1(dist=46600) chr1 110480787 110480787 C T het . 2 +intronic AHCYL1 chr1 110559140 110559140 A G het . 9 +ncRNA_intronic LINC01397 chr1 110650002 110650002 A G het . 2 +ncRNA_intronic LINC01397 chr1 110650009 110650009 A G het . 2 +intergenic UBL4B(dist=6723),SLC6A17(dist=29844) chr1 110663292 110663292 T G het . 4 +intergenic UBL4B(dist=6726),SLC6A17(dist=29841) chr1 110663295 110663295 T G het . 4 +exonic SLC6A17 chr1 110738226 110738226 C T het . 15 +intergenic KCNC4(dist=14401),RBM15-AS1(dist=37924) chr1 110791075 110791075 - T het . 3 +intergenic KCNC4(dist=14411),RBM15-AS1(dist=37914) chr1 110791085 110791085 G T het . 3 +exonic LAMTOR5 chr1 110950277 110950277 G A het . 25 +intergenic LAMTOR5-AS1(dist=10365),PROK1(dist=24527) chr1 110969261 110969261 G A het . 2 +intergenic LAMTOR5-AS1(dist=10374),PROK1(dist=24518) chr1 110969270 110969270 C G het . 2 +intergenic KCNA2(dist=27713),KCNA3(dist=13264) chr1 111201809 111201810 AC - het . 1 +intergenic KCNA3(dist=104772),CD53(dist=91394) chr1 111322427 111322427 A G het . 1 +intronic CD53 chr1 111439527 111439527 A G het . 2 +intergenic CD53(dist=20994),LRIF1(dist=26260) chr1 111463552 111463552 T C het . 1 +intergenic CD53(dist=21003),LRIF1(dist=26251) chr1 111463561 111463561 G A het . 2 +intergenic LRIF1(dist=14638),DRAM2(dist=138588) chr1 111521204 111521204 A G het . 1 +intergenic LRIF1(dist=27427),DRAM2(dist=125799) chr1 111533993 111533993 G T het . 2 +intronic CEPT1 chr1 111698614 111698614 C T het . 2 +intronic DENND2D chr1 111739771 111739771 - CAGGACAAA het . 15 +intronic DENND2D chr1 111739788 111739788 C T het . 23 +intronic CHI3L2 chr1 111770591 111770591 A G het . 2 +intronic TMIGD3 chr1 112028331 112028331 C G het . 3 +intronic TMIGD3 chr1 112028334 112028334 A C het . 3 +intronic TMIGD3 chr1 112029193 112029193 A G het . 8 +intronic TMIGD3 chr1 112084708 112084708 T - het . 5 +intronic TMIGD3 chr1 112085319 112085319 T - het . 3 +intronic TMIGD3 chr1 112100975 112100975 T - het . 3 +ncRNA_intronic LINC01160 chr1 112147767 112147767 C T het . 2 +intergenic LINC01160(dist=9724),RAP1A(dist=1741) chr1 112160664 112160664 A - het . 2 +intronic RAP1A chr1 112237831 112237831 - TAATAT het . 12 +intergenic LINC01750(dist=20976),CTTNBP2NL(dist=376361) chr1 112562439 112562439 G A het . 2 +intergenic LINC01750(dist=289171),CTTNBP2NL(dist=108166) chr1 112830634 112830634 C A het . 2 +intronic CTTNBP2NL chr1 112989625 112989625 A G het . 1 +intronic CTTNBP2NL chr1 112996902 112996902 C G het . 3 +intronic ST7L chr1 113078019 113078019 G T het . 2 +intronic ST7L chr1 113078022 113078022 G T het . 2 +intronic CAPZA1 chr1 113196197 113196197 A T het . 4 +intronic CAPZA1 chr1 113202204 113202208 CTCTC - het . 5 +intronic CAPZA1 chr1 113202220 113202220 C G het . 3 +intronic MOV10 chr1 113239505 113239505 T C het . 2 +intronic RHOC chr1 113247927 113247927 C A het . 3 +intergenic FAM19A3(dist=71751),LINC01356(dist=21184) chr1 113341607 113341607 T C het . 2 +intergenic FAM19A3(dist=81133),LINC01356(dist=11799) chr1 113350989 113350992 TTTG - het . 3 +ncRNA_intronic LOC100996251 chr1 113595133 113595133 A G het . 2 +ncRNA_intronic LOC100996251 chr1 113605162 113605165 TTTT - het . 2 +intronic LRIG2 chr1 113635612 113635612 A - het . 4 +intergenic LRIG2(dist=35938),LOC643441(dist=35637) chr1 113703762 113703767 AAAAAC - het . 2 +ncRNA_intronic LOC643441 chr1 113746209 113746209 T A het . 2 +intergenic LOC643441(dist=40261),MAGI3(dist=144339) chr1 113789136 113789136 T C het . 1 +intronic MAGI3 chr1 113937803 113937803 G T het . 3 +intronic MAGI3 chr1 113937817 113937817 G T het . 3 +intronic MAGI3 chr1 114064042 114064042 G T het . 1 +ncRNA_intronic AP4B1-AS1 chr1 114375540 114375540 C A het . 7 +ncRNA_intronic AP4B1-AS1 chr1 114401467 114401467 C A het . 6 +ncRNA_intronic AP4B1-AS1 chr1 114423633 114423633 C A het . 16 +ncRNA_intronic AP4B1-AS1 chr1 114423653 114423653 C T het . 13 +ncRNA_intronic AP4B1-AS1 chr1 114429515 114429515 A C het . 2 +ncRNA_intronic AP4B1-AS1 chr1 114429525 114429525 A C het . 2 +ncRNA_intronic AP4B1-AS1 chr1 114429529 114429529 T - het . 2 +ncRNA_intronic AP4B1-AS1 chr1 114440258 114440258 C G het . 4 +exonic HIPK1 chr1 114500716 114500716 C A het . 21 +intergenic SYT6(dist=79690),TRIM33(dist=159237) chr1 114776162 114776162 A C het . 2 +intergenic SYT6(dist=79700),TRIM33(dist=159227) chr1 114776172 114776172 T C het . 2 +intergenic SYT6(dist=89130),TRIM33(dist=149797) chr1 114785602 114785602 G A het . 2 +intergenic SYT6(dist=122522),TRIM33(dist=116405) chr1 114818994 114818994 C T het . 2 +intergenic SYT6(dist=128084),TRIM33(dist=110842) chr1 114824556 114824557 GA AC het . 2 +intergenic SYT6(dist=163353),TRIM33(dist=75574) chr1 114859825 114859825 A T het . 2 +intronic TRIM33 chr1 114940633 114940633 A - het . 8 +intronic TRIM33 chr1 115023144 115023144 A - het . 2 +intronic DENND2C chr1 115165472 115165472 T A het . 4 +exonic DENND2C chr1 115167998 115167998 C A het . 30 +intronic AMPD1 chr1 115238017 115238017 A - het . 8 +intronic CSDE1 chr1 115276979 115276979 A - het . 10 +intronic SYCP1 chr1 115399779 115399781 GAG - het . 5 +intronic SYCP1 chr1 115399788 115399788 G A het . 5 +intronic SYCP1 chr1 115401136 115401136 G A het . 13 +exonic SYCP1 chr1 115401322 115401322 A G het . 19 +intronic SYCP1 chr1 115487205 115487205 A C het . 16 +intronic TSPAN2 chr1 115631924 115631924 C T het . 2 +intronic TSPAN2 chr1 115631940 115631940 A C het . 4 +intergenic TSPAN2(dist=137606),NGF-AS1(dist=55928) chr1 115769727 115769727 G A het . 1 +exonic VANGL1 chr1 116206407 116206407 C T het . 18 +intronic VANGL1 chr1 116226459 116226459 C T het . 2 +intronic VANGL1 chr1 116226862 116226862 T C het . 3 +intronic CASQ2 chr1 116246533 116246533 A - het . 2 +intronic CASQ2 chr1 116255487 116255490 AAAG - het . 1 +intronic CASQ2 chr1 116268179 116268180 AA - het . 4 +intronic CASQ2 chr1 116283625 116283625 A G het . 2 +intronic CASQ2 chr1 116286763 116286765 AAA - het . 2 +intergenic NHLH2(dist=16608),LINC01649(dist=61642) chr1 116400355 116400355 C T het . 7 +intergenic NHLH2(dist=39624),LINC01649(dist=38626) chr1 116423371 116423371 A - het . 2 +intergenic NHLH2(dist=39627),LINC01649(dist=38623) chr1 116423374 116423374 A C het . 2 +intergenic NHLH2(dist=39641),LINC01649(dist=38609) chr1 116423388 116423388 C A het . 2 +intergenic NHLH2(dist=67709),LINC01649(dist=10541) chr1 116451456 116451456 G A het . 2 +ncRNA_intronic LOC101928977 chr1 116493187 116493187 C T het . 2 +ncRNA_intronic LOC101928977 chr1 116493216 116493216 A C het . 2 +intergenic MAB21L3(dist=56158),ATP1A1(dist=181776) chr1 116734019 116734019 C A het . 1 +intronic CD58 chr1 117076092 117076092 C A het . 21 +exonic IGSF3 chr1 117122285 117122285 - TCC het . 13 +exonic IGSF3 chr1 117122288 117122288 G C het . 14 +intergenic C1orf137(dist=34352),CD2(dist=13475) chr1 117283577 117283577 C T het . 12 +intronic PTGFRN chr1 117496397 117496397 T C het . 1 +intronic TTF2 chr1 117633134 117633134 T - het . 14 +intronic TTF2 chr1 117641705 117641705 G T het . 3 +downstream TRIM45(dist=297) chr1 117653380 117653380 G A het . 3 +intronic TRIM45 chr1 117660608 117660608 C T het . 2 +intergenic TRIM45(dist=16888),VTCN1(dist=4910) chr1 117681299 117681299 C T het . 2 +intronic VTCN1 chr1 117699714 117699714 - AT het . 5 +intergenic VTCN1(dist=12909),LINC01525(dist=71597) chr1 117766491 117766491 T C het . 2 +intergenic VTCN1(dist=12911),LINC01525(dist=71595) chr1 117766493 117766493 A G het . 2 +intronic MAN1A2 chr1 118003027 118003027 T C het . 9 +intronic MAN1A2 chr1 118006336 118006336 A - het . 3 +intergenic MAN1A2(dist=20439),LOC100996263(dist=47523) chr1 118091931 118091931 C A het . 2 +intergenic MAN1A2(dist=20453),LOC100996263(dist=47509) chr1 118091945 118091945 C G het . 3 +intergenic MAN1A2(dist=58792),LOC100996263(dist=9170) chr1 118130284 118130284 C G het . 2 +intergenic TENT5C(dist=142975),GDAP2(dist=92121) chr1 118313986 118313986 C A het . 3 +intergenic TENT5C(dist=163568),GDAP2(dist=71528) chr1 118334579 118334579 T G het . 3 +intronic GDAP2 chr1 118429438 118429438 - ACA het . 3 +intronic SPAG17 chr1 118527592 118527592 C A het . 5 +exonic SPAG17 chr1 118554987 118554987 T G het . 14 +intergenic SPAG17(dist=429598),TBX15(dist=268176) chr1 119157490 119157490 A G het . 8 +intergenic SPAG17(dist=430017),TBX15(dist=267757) chr1 119157909 119157909 C T het . 1 +intergenic SPAG17(dist=472272),TBX15(dist=225502) chr1 119200164 119200164 G T het . 1 +exonic HAO2 chr1 119925645 119925645 T A het . 10 +intronic HAO2 chr1 119927680 119927680 A G het . 7 +intergenic HSD3B2(dist=50760),HSD3B1(dist=33404) chr1 120016422 120016422 A G het . 12 +exonic ZNF697 chr1 120166681 120166681 G A het . 2 +UTR5 PHGDH(NM_006623:c.-101G>C) chr1 120254545 120254545 G C het . 14 +UTR5 PHGDH(NM_006623:c.-80C>A) chr1 120254566 120254566 C A het . 18 +intronic PHGDH chr1 120255126 120255126 A G het . 1 +intronic PHGDH chr1 120267598 120267598 C - het . 9 +intergenic NBPF7(dist=2456),ADAM30(dist=46197) chr1 120389959 120389959 G T het . 6 +exonic ADAM30 chr1 120438556 120438556 C A het . 20 +exonic ADAM30 chr1 120438827 120438827 T C het . 18 +exonic NOTCH2 chr1 120460310 120460310 T C het . 38 +intronic NOTCH2 chr1 120468590 120468590 C T het . 4 +intronic NOTCH2 chr1 120478285 120478285 T C het . 4 +intronic NOTCH2 chr1 120480394 120480394 T C het . 4 +exonic NOTCH2 chr1 120484189 120484189 C A het . 26 +intergenic SRGAP2-AS1(dist=3105),EMBP1(dist=118040) chr1 121142870 121142870 C T het . 2 +intergenic SRGAP2-AS1(dist=3115),EMBP1(dist=118030) chr1 121142880 121142880 C G het . 2 +intergenic SRGAP2-AS1(dist=20537),EMBP1(dist=100608) chr1 121160302 121160302 G A het . 2 +intergenic SRGAP2-AS1(dist=20559),EMBP1(dist=100586) chr1 121160324 121160324 C A het . 2 +intergenic EMBP1(dist=41401),NONE(dist=NONE) chr1 121355087 121355087 T A het . 1 +intergenic EMBP1(dist=42050),NONE(dist=NONE) chr1 121355736 121355736 T C het . 3 +intergenic EMBP1(dist=42068),NONE(dist=NONE) chr1 121355754 121355754 G C het . 3 +intergenic EMBP1(dist=42079),NONE(dist=NONE) chr1 121355765 121355765 A T het . 3 +intergenic EMBP1(dist=42466),NONE(dist=NONE) chr1 121356152 121356152 T G het . 3 +intergenic EMBP1(dist=44811),NONE(dist=NONE) chr1 121358497 121358497 A G het . 3 +intergenic EMBP1(dist=68619),NONE(dist=NONE) chr1 121382305 121382305 T G het . 2 +intergenic EMBP1(dist=68625),NONE(dist=NONE) chr1 121382311 121382311 A G het . 2 +intergenic EMBP1(dist=68657),NONE(dist=NONE) chr1 121382343 121382343 A G het . 3 +intergenic EMBP1(dist=68660),NONE(dist=NONE) chr1 121382346 121382346 G C het . 3 +intergenic EMBP1(dist=68667),NONE(dist=NONE) chr1 121382353 121382353 C G het . 3 +intergenic EMBP1(dist=68682),NONE(dist=NONE) chr1 121382368 121382368 A G het . 3 +intergenic EMBP1(dist=164984),NONE(dist=NONE) chr1 121478670 121478670 A T het . 11 +intergenic EMBP1(dist=169706),NONE(dist=NONE) chr1 121483392 121483392 C G het . 2 +intergenic EMBP1(dist=170117),NONE(dist=NONE) chr1 121483803 121483803 C T het . 4 +intergenic EMBP1(dist=170497),NONE(dist=NONE) chr1 121484183 121484183 A C het . 3 +intergenic EMBP1(dist=170550),NONE(dist=NONE) chr1 121484236 121484236 T C het . 3 +intergenic EMBP1(dist=170557),NONE(dist=NONE) chr1 121484243 121484243 A T het . 3 +intergenic EMBP1(dist=170737),NONE(dist=NONE) chr1 121484423 121484423 T C het . 17 +intergenic EMBP1(dist=170783),NONE(dist=NONE) chr1 121484469 121484469 T C het . 65 +intergenic EMBP1(dist=170784),NONE(dist=NONE) chr1 121484470 121484470 A G het . 65 +intergenic EMBP1(dist=170788),NONE(dist=NONE) chr1 121484474 121484474 A G het . 64 +intergenic EMBP1(dist=170817),NONE(dist=NONE) chr1 121484503 121484503 T A het . 55 +intergenic EMBP1(dist=170905),NONE(dist=NONE) chr1 121484591 121484591 T A het . 32 +intergenic EMBP1(dist=170916),NONE(dist=NONE) chr1 121484602 121484602 T C het . 38 +intergenic EMBP1(dist=170964),NONE(dist=NONE) chr1 121484650 121484650 A G het . 70 +intergenic EMBP1(dist=170999),NONE(dist=NONE) chr1 121484685 121484685 A G het . 51 +intergenic EMBP1(dist=171026),NONE(dist=NONE) chr1 121484712 121484712 T G het . 23 +intergenic EMBP1(dist=171029),NONE(dist=NONE) chr1 121484715 121484715 G T het . 19 +intergenic EMBP1(dist=171036),NONE(dist=NONE) chr1 121484722 121484722 - GA het . 12 +intergenic EMBP1(dist=171037),NONE(dist=NONE) chr1 121484723 121484723 T G het . 13 +intergenic EMBP1(dist=171041),NONE(dist=NONE) chr1 121484727 121484727 T C het . 11 +intergenic EMBP1(dist=171044),NONE(dist=NONE) chr1 121484730 121484730 T - het . 10 +intergenic EMBP1(dist=171046),NONE(dist=NONE) chr1 121484732 121484732 A - het . 11 +intergenic EMBP1(dist=171046),NONE(dist=NONE) chr1 121484732 121484732 A C het . 10 +intergenic EMBP1(dist=171093),NONE(dist=NONE) chr1 121484779 121484779 G A het . 41 +intergenic EMBP1(dist=171115),NONE(dist=NONE) chr1 121484801 121484801 C G het . 58 +intergenic EMBP1(dist=171149),NONE(dist=NONE) chr1 121484835 121484835 A T het . 52 +intergenic EMBP1(dist=171161),NONE(dist=NONE) chr1 121484847 121484847 T G het . 47 +intergenic EMBP1(dist=171166),NONE(dist=NONE) chr1 121484852 121484852 G A het . 44 +intergenic EMBP1(dist=171169),NONE(dist=NONE) chr1 121484855 121484855 T G het . 43 +intergenic EMBP1(dist=171172),NONE(dist=NONE) chr1 121484858 121484858 A T het . 43 +intergenic EMBP1(dist=171181),NONE(dist=NONE) chr1 121484867 121484867 G T het . 48 +intergenic EMBP1(dist=171194),NONE(dist=NONE) chr1 121484880 121484880 T C het . 48 +intergenic EMBP1(dist=171220),NONE(dist=NONE) chr1 121484906 121484906 C T het . 54 +intergenic EMBP1(dist=171257),NONE(dist=NONE) chr1 121484943 121484943 G A het . 51 +intergenic EMBP1(dist=171265),NONE(dist=NONE) chr1 121484951 121484951 T C het . 41 +intergenic EMBP1(dist=171293),NONE(dist=NONE) chr1 121484979 121484979 G T het . 49 +intergenic EMBP1(dist=171315),NONE(dist=NONE) chr1 121485001 121485001 G A het . 53 +intergenic EMBP1(dist=171318),NONE(dist=NONE) chr1 121485004 121485004 C G het . 54 +intergenic EMBP1(dist=171326),NONE(dist=NONE) chr1 121485012 121485012 A C het . 61 +intergenic EMBP1(dist=171329),NONE(dist=NONE) chr1 121485015 121485015 G T het . 63 +intergenic EMBP1(dist=171385),NONE(dist=NONE) chr1 121485071 121485071 C A het . 43 +intergenic EMBP1(dist=171402),NONE(dist=NONE) chr1 121485088 121485088 T A het . 26 +intergenic EMBP1(dist=171404),NONE(dist=NONE) chr1 121485090 121485090 A G het . 23 +intergenic EMBP1(dist=171413),NONE(dist=NONE) chr1 121485099 121485099 T A het . 13 +intergenic EMBP1(dist=171415),NONE(dist=NONE) chr1 121485101 121485101 A T het . 13 +intergenic EMBP1(dist=171479),NONE(dist=NONE) chr1 121485165 121485165 A T het . 27 +intergenic EMBP1(dist=171527),NONE(dist=NONE) chr1 121485213 121485213 G A het . 47 +intergenic EMBP1(dist=171528),NONE(dist=NONE) chr1 121485214 121485214 G T het . 45 +intergenic EMBP1(dist=171531),NONE(dist=NONE) chr1 121485217 121485217 A C het . 49 +intergenic EMBP1(dist=171533),NONE(dist=NONE) chr1 121485219 121485219 T A het . 49 +intergenic EMBP1(dist=171541),NONE(dist=NONE) chr1 121485227 121485227 A T het . 40 +intergenic EMBP1(dist=171555),NONE(dist=NONE) chr1 121485241 121485241 G C het . 29 +intergenic EMBP1(dist=171565),NONE(dist=NONE) chr1 121485251 121485251 A T het . 27 +intergenic EMBP1(dist=171574),NONE(dist=NONE) chr1 121485260 121485260 T C het . 27 +intergenic EMBP1(dist=171583),NONE(dist=NONE) chr1 121485269 121485269 G T het . 28 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=161447) chr1 142535974 142535974 G C het . 3 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=161303) chr1 142536118 142536118 C A het . 5 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=159940) chr1 142537481 142537481 A C het . 7 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=159596) chr1 142537825 142537825 T A het . 3 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=159594) chr1 142537827 142537827 G C het . 3 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=159590) chr1 142537831 142537831 G T het . 3 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=159556) chr1 142537865 142537865 C T het . 4 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=159488) chr1 142537933 142537933 T A het . 5 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=159472) chr1 142537949 142537949 C G het . 5 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=159087) chr1 142538334 142538334 T A het . 3 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=159059) chr1 142538362 142538362 G A het . 3 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=158286) chr1 142539135 142539135 A T het . 4 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=154445) chr1 142542976 142542976 T G het . 2 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=113261) chr1 142584160 142584160 A G het . 2 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=113229) chr1 142584192 142584192 C T het . 2 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=92402) chr1 142605019 142605019 C A het . 2 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=92129) chr1 142605292 142605292 G A het . 1 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=88581) chr1 142608840 142608840 A C het . 3 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=85887) chr1 142611534 142611534 G T het . 3 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=85880) chr1 142611541 142611541 G A het . 3 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=82398) chr1 142615023 142615023 A G het . 6 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=82381) chr1 142615040 142615040 G T het . 4 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=82379) chr1 142615042 142615042 C A het . 4 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=82248) chr1 142615173 142615173 G T het . 4 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=82244) chr1 142615177 142615177 A T het . 4 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=79646) chr1 142617775 142617775 C T het . 3 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=79320) chr1 142618101 142618101 G C het . 2 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=76446) chr1 142620975 142620975 T G het . 14 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=76424) chr1 142620997 142620997 C T het . 9 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=74855) chr1 142622566 142622566 C T het . 4 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=53928) chr1 142643493 142643493 C A het . 2 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=53920) chr1 142643501 142643501 G T het . 2 +intergenic NONE(dist=NONE),ANKRD20A12P(dist=50349) chr1 142647072 142647072 T C het . 2 +intergenic ANKRD20A12P(dist=68823),LOC102723769(dist=352175) chr1 142782428 142782428 G A het . 6 +intergenic ANKRD20A12P(dist=68826),LOC102723769(dist=352172) chr1 142782431 142782431 C T het . 6 +intergenic ANKRD20A12P(dist=68846),LOC102723769(dist=352152) chr1 142782451 142782451 C A het . 3 +intergenic ANKRD20A12P(dist=79494),LOC102723769(dist=341504) chr1 142793099 142793099 A G het . 2 +intergenic ANKRD20A12P(dist=90833),LOC102723769(dist=330165) chr1 142804438 142804438 G T het . 5 +ncRNA_intronic LOC102723769 chr1 143148238 143148238 C A het . 3 +ncRNA_intronic LOC102723769 chr1 143148264 143148264 G C het . 3 +ncRNA_intronic LOC102723769 chr1 143149431 143149431 C T het . 3 +ncRNA_intronic LOC102723769 chr1 143149462 143149462 C G het . 3 +ncRNA_intronic LOC102723769 chr1 143149477 143149477 A G het . 3 +ncRNA_intronic LOC102723769 chr1 143175669 143175669 G A het . 3 +ncRNA_intronic LINC01138 chr1 143744160 143744160 G A het . 20 +intergenic FAM72C(dist=95851),NBPF20(dist=136287) chr1 144010524 144010524 - CTCCTTCTT het . 11 +intergenic FAM72C(dist=100501),NBPF20(dist=131637) chr1 144015174 144015174 G A het . 7 +intergenic FAM72C(dist=100549),NBPF20(dist=131589) chr1 144015222 144015222 G A het . 4 +intronic NBPF19,NBPF20 chr1 144527203 144527203 T A het . 2 +intronic NBPF19,NBPF20 chr1 144529075 144529075 T C het . 2 +intronic NBPF19,NBPF20 chr1 144530879 144530879 T C het . 2 +ncRNA_intronic LOC100996724 chr1 144843200 144843200 A T het . 3 +ncRNA_intronic LOC100996724 chr1 144864979 144864979 C T het . 3 +exonic PDE4DIP chr1 144866643 144866643 G A het . 18 +exonic PDE4DIP chr1 144866662 144866662 T C het . 23 +ncRNA_intronic LOC100996724 chr1 144875799 144875799 G A het . 3 +exonic PDE4DIP chr1 144879264 144879264 A G het . 40 +ncRNA_intronic LOC100996724 chr1 144892149 144892149 G A het . 15 +ncRNA_intronic LOC100996724 chr1 144912516 144912516 A - het . 3 +ncRNA_intronic LOC100996724 chr1 144916995 144916995 A T het . 2 +ncRNA_intronic LOC100996724 chr1 144919009 144919009 C - het . 16 +ncRNA_intronic LOC100996724 chr1 144920745 144920745 - GAAA het . 2 +ncRNA_intronic LOC100996724 chr1 144931739 144931739 - GGC het . 6 +ncRNA_intronic LOC100996724 chr1 144986081 144986081 A T het . 3 +ncRNA_intronic LOC100996724 chr1 145000956 145000956 G C het . 2 +ncRNA_intronic LOC100996724 chr1 145013802 145013802 T G het . 3 +ncRNA_intronic LOC100996724 chr1 145014053 145014053 T C het . 12 +ncRNA_intronic LOC100996724 chr1 145014187 145014188 AA - het . 25 +ncRNA_intronic LOC100996724 chr1 145014198 145014199 AC CA het . 27 +ncRNA_intronic LOC100996724 chr1 145014210 145014210 G A het . 26 +ncRNA_intronic LOC100996724 chr1 145014218 145014218 G A het . 22 +ncRNA_intronic LOC100996724 chr1 145014535 145014536 CT - het . 3 +ncRNA_intronic LOC100996724 chr1 145025303 145025303 G A het . 1 +ncRNA_intronic LOC100996724 chr1 145037984 145037984 T G het . 3 +ncRNA_intronic LOC100996724 chr1 145038815 145038815 A G het . 11 +ncRNA_intronic LOC100996724 chr1 145038952 145038952 C T het . 27 +intronic NBPF19,NBPF20,NBPF9,PDE4DIP chr1 145045565 145045565 G A het . 2 +intronic NBPF19,NBPF20,NBPF9,PDE4DIP chr1 145056066 145056066 T A het . 2 +intronic NBPF19,NBPF20,NBPF9,PDE4DIP chr1 145068320 145068320 A G het . 2 +exonic PDE4DIP chr1 145075854 145075854 G C het . 32 +UTR5 PDE4DIP(NM_001350521:c.-41G>A,NM_022359:c.-41G>A) chr1 145075903 145075903 C T het . 31 +UTR5 PDE4DIP(NM_001350521:c.-61G>A,NM_022359:c.-61G>A) chr1 145075923 145075923 C T het . 24 +intronic NBPF19,NBPF20,NBPF9 chr1 145091809 145091809 G C het . 2 +intronic NBPF19,NBPF20,NBPF9 chr1 145091824 145091824 T C het . 2 +intronic NBPF19,NBPF20,NBPF9,SEC22B chr1 145104053 145104054 GT - het . 9 +intronic NBPF19,NBPF20,NBPF9,SEC22B chr1 145104075 145104075 G A het . 8 +intronic NBPF19,NBPF20,NBPF9,SEC22B chr1 145113413 145113413 G A het . 3 +intronic NBPF19,NBPF20,NBPF9 chr1 145152275 145152275 A G het . 1 +ncRNA_intronic NOTCH2NLR chr1 145213056 145213056 A T het . 3 +ncRNA_intronic NOTCH2NLR chr1 145280713 145280714 TT - het . 3 +ncRNA_intronic NOTCH2NLR chr1 145281780 145281780 T A het . 23 +exonic NBPF10 chr1 145293469 145293469 G C het . 71 +exonic NBPF10 chr1 145293490 145293490 G C het . 48 +exonic NBPF10 chr1 145293498 145293498 G C het . 41 +exonic NBPF10 chr1 145323656 145323656 A T het . 30 +exonic NBPF10 chr1 145323668 145323668 G C het . 40 +exonic HJV chr1 145416892 145416892 C A het . 32 +intronic NBPF10,NBPF19,NBPF20 chr1 145428296 145428296 C T het . 2 +UTR5 TXNIP(NM_006472:c.-225C>A) chr1 145438578 145438578 C A het . 3 +exonic POLR3GL chr1 145457040 145457042 TCT - het . 35 +ncRNA_intronic LIX1L-AS1 chr1 145494560 145494563 AAAT - het . 1 +UTR5 ANKRD35(NM_144698:c.-91T>A,NM_001280799:c.-91T>A) chr1 145549226 145549226 T A het . 8 +exonic ANKRD35 chr1 145561594 145561594 C T het . 9 +ncRNA_intronic LOC728989 chr1 146511926 146511926 A T het . 1 +intronic NBPF19 chr1 146515860 146515861 AA - het . 9 +intronic NBPF19 chr1 146524039 146524039 A G het . 10 +intronic NBPF19 chr1 146524094 146524094 C T het . 5 +ncRNA_intronic NBPF13P chr1 146583568 146583569 GA AT het . 16 +intronic NBPF19 chr1 146592787 146592787 T C het . 6 +intronic NBPF19 chr1 146595630 146595630 G T het . 12 +intronic CHD1L,FMO5,NBPF19 chr1 146672375 146672375 C T het . 2 +intronic CHD1L,FMO5,NBPF19 chr1 146685121 146685121 G A het . 3 +intronic CHD1L,FMO5,NBPF19 chr1 146687250 146687250 A T het . 3 +intronic NBPF19 chr1 146791923 146791923 G T het . 18 +ncRNA_intronic LINC00624 chr1 146871108 146871108 T G het . 1 +ncRNA_intronic LINC00624 chr1 146871119 146871119 A G het . 2 +ncRNA_intronic LINC00624 chr1 146934737 146934737 T A het . 2 +intronic NBPF19 chr1 147011783 147011783 T C het . 2 +exonic BCL9 chr1 147084920 147084920 A - het . 16 +intronic NBPF19 chr1 147313488 147313488 A G het . 9 +intronic NBPF19 chr1 147364430 147364430 G A het . 2 +intronic NBPF19 chr1 147381444 147381444 A C het . 12 +ncRNA_intronic LOC100996740 chr1 147966820 147966820 T G het . 4 +ncRNA_exonic DRD5P2,LOC101060524 chr1 148903577 148903577 A G het . 5 +ncRNA_exonic DRD5P2,LOC101060524 chr1 148903616 148903617 GG AA het . 9 +ncRNA_intronic NBPF25P chr1 149038923 149038923 C T het . 28 +ncRNA_intronic NBPF25P chr1 149050276 149050276 G A het . 8 +ncRNA_intronic NBPF25P chr1 149095210 149095210 - A het . 12 +ncRNA_intronic NBPF25P chr1 149095248 149095248 A T het . 16 +ncRNA_intronic NBPF25P chr1 149095260 149095260 C T het . 17 +ncRNA_intronic NBPF25P chr1 149095280 149095280 C G het . 22 +intergenic NBPF25P(dist=112614),LOC644634(dist=65896) chr1 149222339 149222339 C T het . 6 +intergenic NBPF25P(dist=112641),LOC644634(dist=65869) chr1 149222366 149222366 G A het . 8 +intergenic NBPF25P(dist=112647),LOC644634(dist=65863) chr1 149222372 149222372 G T het . 7 +intergenic NBPF25P(dist=112653),LOC644634(dist=65857) chr1 149222378 149222378 G A het . 6 +intronic HIST2H2BF chr1 149764212 149764212 T C het . 8 +UTR5 SF3B4(NM_005850:c.-61G>T) chr1 149899712 149899712 C A het . 26 +ncRNA_intronic LOC105371433 chr1 150139579 150139579 A G het . 1 +intergenic ANP32E(dist=13503),CA14(dist=8131) chr1 150222007 150222007 A T het . 2 +intronic CA14 chr1 150236315 150236316 TT - het . 4 +UTR5 PRPF3(NM_001350529:c.-3527T>A,NM_004698:c.-20T>A) chr1 150297381 150297381 T A het . 11 +intronic PRPF3 chr1 150315720 150315726 AAAAAAT - het . 13 +intronic PRPF3 chr1 150315724 150315724 A T het . 6 +intronic PRPF3 chr1 150319884 150319884 G A het . 2 +intronic RPRD2 chr1 150390413 150390413 C T het . 3 +intronic RPRD2 chr1 150438504 150438511 AAAAAAAT - het . 2 +exonic ECM1 chr1 150483594 150483594 C A het . 18 +intronic ECM1 chr1 150485566 150485566 T G het . 6 +intronic ECM1 chr1 150485571 150485571 T C het . 6 +intergenic FALEC(dist=17183),ADAMTSL4(dist=14154) chr1 150507691 150507691 - GGG het . 3 +intronic ADAMTSL4 chr1 150529322 150529322 - AA het . 21 +intergenic MCL1(dist=10631),ENSA(dist=31754) chr1 150562845 150562845 C T het . 3 +intergenic MCL1(dist=11269),ENSA(dist=31116) chr1 150563483 150563483 T C het . 2 +intergenic ENSA(dist=11084),GOLPH3L(dist=5519) chr1 150613182 150613182 A - het . 2 +intergenic CTSS(dist=5231),CTSK(dist=25020) chr1 150743664 150743664 G T het . 2 +intronic CTSK chr1 150771843 150771843 C A het . 5 +intronic ARNT chr1 150799112 150799112 A C het . 12 +intronic ARNT chr1 150809059 150809059 C A het . 11 +intronic ARNT chr1 150833904 150833904 C T het . 9 +intronic ANXA9 chr1 150960303 150960303 C A het . 5 +intronic BNIPL chr1 151017254 151017254 - T het . 12 +UTR5 CDC42SE1(NM_001038707:c.-28C>A,NM_020239:c.-28C>A) chr1 151028234 151028234 G T het . 17 +intronic ZNF687 chr1 151256088 151256088 C G het . 1 +intronic PI4KB chr1 151269261 151269261 T - het . 2 +intronic PI4KB chr1 151273884 151273884 T A het . 2 +exonic PI4KB chr1 151274329 151274329 C A het . 26 +exonic SELENBP1 chr1 151338102 151338102 C T het . 23 +intronic SELENBP1 chr1 151341859 151341859 G C het . 5 +intergenic SELENBP1(dist=24160),PSMB4(dist=2668) chr1 151369370 151369373 CTTT - het . 2 +upstream PSMB4(dist=351) chr1 151371690 151371690 C T het . 4 +upstream PSMB4(dist=317) chr1 151371723 151371724 AT - het . 3 +intronic POGZ chr1 151400942 151400942 A C het . 4 +intronic POGZ chr1 151403381 151403385 TTTAT - het . 4 +intergenic POGZ(dist=1627),CGN(dist=50294) chr1 151433568 151433568 T A het . 1 +exonic CGN chr1 151491836 151491836 C T het . 7 +intronic CGN chr1 151496903 151496903 C T het . 6 +intronic CGN chr1 151499635 151499635 C T het . 7 +intronic TUFT1 chr1 151551078 151551078 A G het . 3 +intronic SNX27 chr1 151639862 151639862 G C het . 2 +exonic CELF3 chr1 151678723 151678725 TGC - het . 22 +intronic OAZ3 chr1 151740420 151740420 G A het . 3 +exonic TDRKH chr1 151747970 151747970 A G het . 7 +exonic LINGO4 chr1 151774920 151774920 C A het . 12 +intergenic THEM5(dist=13862),THEM4(dist=3306) chr1 151840035 151840037 TTC - het . 2 +exonic THEM4 chr1 151867528 151867528 C T het . 16 +exonic THEM4 chr1 151867560 151867560 G A het . 2 +intronic THEM4 chr1 151874337 151874337 A C het . 3 +intergenic THEM4(dist=40152),S100A10(dist=32873) chr1 151922513 151922513 A G het . 5 +intergenic THEM4(dist=45315),S100A10(dist=27710) chr1 151927676 151927676 T C het . 1 +intergenic THEM4(dist=65064),S100A10(dist=7961) chr1 151947425 151947425 T G het . 1 +exonic TCHH chr1 152083314 152083314 C A het . 40 +exonic TCHH chr1 152083325 152083325 A T het . 40 +intergenic RPTN(dist=38437),HRNR(dist=14411) chr1 152170141 152170141 - TT het . 3 +intergenic RPTN(dist=38445),HRNR(dist=14403) chr1 152170149 152170149 C T het . 3 +intergenic RPTN(dist=38512),HRNR(dist=14336) chr1 152170216 152170216 C T het . 3 +exonic HRNR chr1 152191709 152191709 C G het . 9 +exonic HRNR chr1 152193121 152193121 G T het . 15 +intergenic HRNR(dist=13076),FLG(dist=64900) chr1 152209748 152209751 TTAT - het . 2 +intronic CRNN chr1 152384833 152384833 T C het . 4 +intergenic CRCT1(dist=41141),LCE3E(dist=8553) chr1 152529622 152529622 T C het . 1 +exonic LCE3D chr1 152552348 152552348 G A het . 11 +exonic LCE2B chr1 152659471 152659471 T G het . 19 +intronic LCE1E chr1 152759678 152759678 C T het . 3 +exonic LCE1E chr1 152759950 152759950 A G het . 2 +UTR5 LCE1C(NM_001276331:c.-10C>T,NM_178351:c.-10C>T) chr1 152777964 152777964 G A het . 4 +intergenic LCE6A(dist=1637),SMCP(dist=32702) chr1 152818096 152818096 T C het . 1 +ncRNA_intronic SPRR2C chr1 153113275 153113275 C T het . 3 +exonic LOR chr1 153233510 153233510 A G het . 5 +exonic LOR chr1 153234011 153234011 T G het . 7 +intergenic S100A12(dist=5285),S100A8(dist=9148) chr1 153353360 153353360 G A het . 1 +intronic S100A8 chr1 153362788 153362788 T C het . 7 +intronic S100A8 chr1 153362799 153362799 A T het . 6 +intergenic S100A7A(dist=13992),S100A7(dist=20527) chr1 153409693 153409693 T A het . 10 +intergenic S100A7(dist=31486),S100A6(dist=42453) chr1 153464623 153464623 - T het . 2 +ncRNA_intronic LOC101928034 chr1 153520784 153520784 C A het . 6 +ncRNA_intronic LOC101928034 chr1 153520790 153520790 G C het . 6 +intronic ILF2 chr1 153636472 153636472 T C het . 7 +exonic INTS3 chr1 153737536 153737536 C A het . 10 +intergenic SLC27A3(dist=8306),LOC343052(dist=5481) chr1 153760942 153760942 G A het . 2 +intronic GATAD2B chr1 153825208 153825208 A G het . 12 +exonic NUP210L chr1 153974341 153974341 C A het . 27 +intronic NUP210L chr1 154027382 154027383 TT - het . 13 +intronic NUP210L chr1 154082027 154082027 - T het . 2 +intronic NUP210L chr1 154095545 154095545 A T het . 2 +intronic NUP210L chr1 154098785 154098785 T C het . 12 +intronic NUP210L chr1 154112167 154112167 A C het . 2 +intronic TPM3 chr1 154141908 154141908 A G het . 8 +upstream MIR190B(dist=50) chr1 154166269 154166269 G A het . 12 +exonic C1orf43 chr1 154185051 154185051 C A het . 24 +intronic C1orf43 chr1 154192463 154192463 - T het . 15 +intronic UBAP2L chr1 154200704 154200704 T C het . 2 +intronic UBAP2L chr1 154205823 154205823 C T het . 2 +intronic UBAP2L chr1 154215621 154215621 C T het . 8 +intronic UBAP2L chr1 154227239 154227239 C A het . 9 +intronic UBAP2L chr1 154231667 154231667 G T het . 1 +intronic HAX1 chr1 154247295 154247295 T C het . 17 +exonic AQP10 chr1 154293675 154293675 G A het . 3 +intergenic ATP8B2(dist=27293),IL6R-AS1(dist=23726) chr1 154351073 154351073 T C het . 13 +intronic IL6R chr1 154426947 154426947 T - het . 9 +exonic IL6R chr1 154426970 154426970 A C het . 15 +UTR3 IL6R(NM_000565:c.*40T>C,NM_181359:c.*255T>C) chr1 154437896 154437896 T C het . 3 +exonic TDRD10 chr1 154516477 154516477 G A het . 3 +intronic UBE2Q1 chr1 154523588 154523588 T G het . 4 +UTR5 ADAR(NM_001025107:c.-26140T>C) chr1 154600372 154600372 A G het . 7 +intergenic ADAR(dist=52800),KCNN3(dist=16669) chr1 154653273 154653273 G C het . 2 +exonic KCNN3 chr1 154680586 154680588 GCT - het . 21 +intronic KCNN3 chr1 154732308 154732308 A G het . 2 +intronic KCNN3 chr1 154745031 154745031 T G het . 2 +intronic KCNN3 chr1 154750989 154750989 G A het . 3 +ncRNA_intronic DCST1-AS1 chr1 155020514 155020514 A C het . 10 +exonic ADAM15 chr1 155033308 155033308 G A het . 9 +ncRNA_intronic GBAP1 chr1 155196145 155196148 AAAG - het . 1 +intergenic PKLR(dist=2371),FDPS(dist=4939) chr1 155273600 155273600 C A het . 2 +exonic FDPS chr1 155290222 155290222 C A het . 11 +exonic RUSC1 chr1 155294274 155294274 A G het . 3 +exonic ASH1L chr1 155308175 155308175 G A het . 5 +intronic ASH1L chr1 155319532 155319532 G T het . 5 +intronic ASH1L chr1 155381960 155381960 G A het . 2 +exonic ASH1L chr1 155451184 155451184 C A het . 33 +exonic ASH1L chr1 155451379 155451379 C A het . 23 +ncRNA_exonic ASH1L-AS1 chr1 155532935 155532935 A C het . 19 +intergenic ASH1L-AS1(dist=4884),MSTO1(dist=41337) chr1 155538619 155538624 TTTTTC - het . 3 +intergenic MSTO1(dist=5033),YY1AP1(dist=39442) chr1 155589791 155589791 G T het . 2 +intergenic MSTO1(dist=5041),YY1AP1(dist=39433) chr1 155589799 155589800 GG TT het . 2 +intronic YY1AP1 chr1 155644931 155644931 G T het . 10 +intronic DAP3 chr1 155695656 155695656 A G het . 8 +exonic DAP3 chr1 155699156 155699156 C T het . 13 +intronic GON4L chr1 155774599 155774599 T C het . 6 +exonic GON4L chr1 155783534 155783534 G C het . 23 +intronic GON4L chr1 155785579 155785582 AACT - het . 26 +intronic KHDC4 chr1 155884156 155884156 A - het . 7 +intronic SSR2 chr1 155981489 155981489 C G het . 4 +intronic SSR2 chr1 155983710 155983710 A G het . 2 +intronic LMNA chr1 156105928 156105928 G A het . 15 +intronic LMNA chr1 156106863 156106863 C T het . 19 +exonic GLMP chr1 156263820 156263820 C A het . 17 +intronic CCT3 chr1 156303074 156303074 C A het . 6 +intronic TSACC chr1 156316553 156316553 C A het . 6 +intronic RHBG chr1 156344379 156344380 TT - het . 7 +exonic RHBG chr1 156354367 156354367 A G het . 3 +intergenic C1orf61(dist=13274),MEF2D(dist=20899) chr1 156412614 156412614 T C het . 3 +intronic IQGAP3 chr1 156503541 156503541 T C het . 5 +intronic IQGAP3 chr1 156515296 156515298 TTT - het . 2 +intronic IQGAP3 chr1 156536353 156536353 A G het . 5 +intergenic IQGAP3(dist=4568),TTC24(dist=4193) chr1 156546964 156546964 C T het . 1 +intronic NAXE chr1 156562143 156562143 G A het . 3 +intergenic HAPLN2(dist=3313),BCAN(dist=12910) chr1 156598830 156598830 T - het . 3 +exonic NES chr1 156639636 156639636 G A het . 17 +exonic NES chr1 156640678 156640678 G A het . 11 +intronic RRNAD1 chr1 156703456 156703456 G C het . 4 +exonic RRNAD1 chr1 156704077 156704077 C A het . 11 +intronic LRRC71 chr1 156898219 156898221 TCT - het . 5 +intronic LRRC71 chr1 156898243 156898245 TCT - het . 4 +intronic ARHGEF11 chr1 156907031 156907031 C T het . 4 +intronic ARHGEF11 chr1 156916640 156916640 - CCTATCCCTT het . 12 +intronic ARHGEF11 chr1 156948957 156948959 CCT - het . 12 +intronic ARHGEF11 chr1 156956048 156956048 G T het . 3 +intergenic ARHGEF11(dist=39035),ETV3L(dist=7638) chr1 157054197 157054197 C T het . 2 +intergenic ETV3(dist=75384),FCRL5(dist=299400) chr1 157183767 157183767 G T het . 2 +intergenic ETV3(dist=293323),FCRL5(dist=81461) chr1 157401706 157401706 A G het . 1 +intronic FCRL4 chr1 157548538 157548538 C G het . 17 +intronic FCRL4 chr1 157550195 157550195 C A het . 16 +intergenic FCRL4(dist=52273),FCRL3(dist=26128) chr1 157620143 157620143 T C het . 1 +exonic FCRL3 chr1 157667052 157667052 C A het . 4 +intronic FCRL2 chr1 157740187 157740188 TC - het . 18 +intronic FCRL2 chr1 157740189 157740189 A G het . 18 +intronic FCRL1 chr1 157774897 157774897 T C het . 3 +intergenic LOC105371458(dist=10939),KIRREL1(dist=33263) chr1 157929800 157929800 G A het . 3 +intronic KIRREL1 chr1 158001894 158001894 C - het . 3 +intronic KIRREL1 chr1 158001898 158001898 C - het . 3 +intergenic KIRREL1(dist=29041),LINC01704(dist=2741) chr1 158099093 158099093 A T het . 2 +intergenic KIRREL1(dist=29044),LINC01704(dist=2738) chr1 158099096 158099096 T A het . 2 +exonic CD1D chr1 158151477 158151477 C A het . 25 +intergenic CD1D(dist=9125),CD1A(dist=52778) chr1 158165341 158165341 C T het . 6 +intergenic CD1D(dist=9141),CD1A(dist=52762) chr1 158165357 158165357 T - het . 6 +intergenic CD1D(dist=9151),CD1A(dist=52752) chr1 158165367 158165367 T A het . 6 +intergenic CD1D(dist=59083),CD1A(dist=2820) chr1 158215299 158215299 C A het . 2 +exonic CD1C chr1 158262408 158262408 C A het . 13 +exonic OR10T2 chr1 158368541 158368541 A G het . 9 +exonic OR6Y1 chr1 158517468 158517468 T C het . 13 +exonic OR6P1 chr1 158532614 158532614 G A het . 10 +exonic OR10Z1 chr1 158576646 158576646 C T het . 11 +exonic OR10Z1 chr1 158576979 158576979 C T het . 4 +intronic SPTA1 chr1 158596111 158596111 C A het . 20 +intronic SPTA1 chr1 158607788 158607788 T G het . 25 +intronic SPTA1 chr1 158613381 158613381 G T het . 6 +intronic SPTA1 chr1 158613927 158613927 A - het . 12 +exonic SPTA1 chr1 158647495 158647495 A T het . 24 +intronic SPTA1 chr1 158648490 158648490 T C het . 5 +UTR5 SPTA1(NM_003126:c.-41_-40insCT) chr1 158656347 158656347 - AG het . 16 +upstream SPTA1(dist=127) chr1 158656632 158656632 - AA het . 1 +upstream SPTA1(dist=136) chr1 158656641 158656641 C A het . 2 +upstream SPTA1(dist=148) chr1 158656653 158656653 A T het . 2 +exonic OR6N1 chr1 158735595 158735595 C T het . 2 +exonic OR6N2 chr1 158746909 158746909 C T het . 18 +intergenic MNDA(dist=33387),PYHIN1(dist=48656) chr1 158852681 158852681 C T het . 2 +intronic PYHIN1 chr1 158941634 158941634 A G het . 2 +intergenic OR10J1(dist=78100),OR10J5(dist=16015) chr1 159488853 159488853 G C het . 1 +ncRNA_intronic SNHG28 chr1 159807946 159807946 T C het . 2 +ncRNA_intronic SNHG28 chr1 159807969 159807969 A T het . 3 +intergenic CFAP45(dist=4376),TAGLN2(dist=13615) chr1 159874282 159874282 G A het . 1 +intronic IGSF9 chr1 159897682 159897682 A - het . 5 +exonic IGSF9 chr1 159904611 159904611 T G het . 9 +intronic SLAMF9 chr1 159922369 159922369 C T het . 2 +intronic IGSF8 chr1 160068068 160068068 A C het . 5 +intronic ATP1A2 chr1 160090674 160090674 T C het . 18 +intronic ATP1A2 chr1 160090682 160090685 CCTT - het . 14 +intronic ATP1A2 chr1 160098927 160098927 - G het . 8 +intronic ATP1A2 chr1 160099305 160099305 C T het . 5 +intronic ATP1A2 chr1 160104853 160104853 C T het . 8 +upstream ATP1A4(dist=578) chr1 160120771 160120774 TTTG - het . 2 +exonic ATP1A4 chr1 160124875 160124875 G A het . 6 +exonic ATP1A4 chr1 160124897 160124897 A C het . 10 +intronic ATP1A4 chr1 160151421 160151421 G C het . 4 +intronic ATP1A4 chr1 160151450 160151450 T C het . 6 +intergenic LOC100287049(dist=4361),PEX19(dist=9670) chr1 160236929 160236929 G C het . 20 +intronic COPA chr1 160307512 160307515 AAAC - het . 2 +intronic NCSTN chr1 160325813 160325813 C A het . 12 +exonic NCSTN chr1 160326105 160326105 C A het . 31 +intronic VANGL2 chr1 160390175 160390175 A C het . 5 +intronic VANGL2 chr1 160390189 160390189 T G het . 10 +splicing VANGL2(NM_020335:exon5:c.801-2A>C) chr1 160390199 160390199 A C het . 12 +intronic SLAMF1 chr1 160585554 160585554 C G het . 9 +intronic SLAMF1 chr1 160585706 160585706 C T het . 2 +intronic CD244 chr1 160802545 160802545 G A het . 12 +intronic CD244 chr1 160810951 160810951 C T het . 2 +intronic ITLN1 chr1 160848993 160848993 G A het . 2 +intronic ITLN1 chr1 160849030 160849030 T A het . 4 +intronic ITLN1 chr1 160849060 160849060 G A het . 4 +ncRNA_intronic LOC101928372 chr1 160905975 160905975 T - het . 11 +ncRNA_intronic LOC101928372 chr1 160905990 160905990 T - het . 14 +UTR5 F11R(NM_016946:c.-12_-13delinsTG,NM_001348091:c.-12_-13delinsTG) chr1 160990875 160990876 TC CA het . 24 +UTR5 F11R(NM_016946:c.-15G>A,NM_001348091:c.-15G>A) chr1 160990878 160990878 C T het . 24 +exonic TSTD1 chr1 161007576 161007576 T C het . 14 +intronic USF1 chr1 161014370 161014370 C G het . 1 +exonic ARHGAP30 chr1 161017892 161017892 C G het . 12 +intronic ARHGAP30 chr1 161030060 161030060 A - het . 11 +intronic NECTIN4 chr1 161047126 161047129 TATA - het . 6 +intronic USP21 chr1 161131949 161131949 G C het . 11 +intronic B4GALT3 chr1 161144773 161144773 T C het . 6 +intronic NDUFS2 chr1 161179588 161179588 C A het . 18 +intronic FCER1G chr1 161188158 161188158 C A het . 3 +downstream PCP4L1(dist=577) chr1 161255817 161255817 T - het . 2 +intronic SDHC chr1 161284224 161284224 - GT het . 23 +intronic SDHC chr1 161332092 161332092 T - het . 18 +intergenic CFAP126(dist=19093),FCGR2A(dist=118438) chr1 161356766 161356767 TT - het . 3 +intronic FCGR3B chr1 161601133 161601133 T C het . 2 +intronic DUSP12 chr1 161721403 161721403 T - het . 14 +intronic ATF6 chr1 161761099 161761099 C T het . 2 +intronic ATF6 chr1 161863898 161863898 A G het . 2 +intronic NOS1AP chr1 162041614 162041614 G A het . 3 +intronic NOS1AP chr1 162297354 162297354 A T het . 2 +exonic C1orf226 chr1 162353379 162353379 C A het . 16 +intronic SH2D1B chr1 162372701 162372701 - TT het . 7 +intronic SH2D1B chr1 162372703 162372703 C T het . 9 +intronic SH2D1B chr1 162372715 162372715 C T het . 9 +intronic SH2D1B chr1 162372718 162372718 G A het . 9 +intronic UHMK1 chr1 162473500 162473500 T C het . 9 +intergenic CCDC190(dist=23058),RGS4(dist=176733) chr1 162861663 162861663 G A het . 2 +intergenic RGS4(dist=51277),RGS5(dist=14220) chr1 163097869 163097869 A C het . 4 +intronic RGS5 chr1 163279289 163279289 T - het . 2 +UTR5 NUF2(NM_031423:c.-8C>A,NM_145697:c.-8C>A) chr1 163295834 163295834 C A het . 22 +intronic NUF2 chr1 163298769 163298769 A - het . 8 +intronic NUF2 chr1 163313696 163313696 A - het . 7 +intronic NUF2 chr1 163317427 163317427 T C het . 3 +intergenic NUF2(dist=32817),LOC100422212(dist=32490) chr1 163358370 163358370 A G het . 2 +intergenic LOC100422212(dist=83079),PBX1(dist=1052529) chr1 163476060 163476068 ATGAAATAT - het . 2 +intergenic LOC100422212(dist=83089),PBX1(dist=1052519) chr1 163476070 163476078 TTTGCCTCT - het . 2 +intergenic LOC100422212(dist=83102),PBX1(dist=1052514) chr1 163476083 163476083 T A het . 2 +intergenic LOC100422212(dist=712995),PBX1(dist=422621) chr1 164105976 164105976 A C het . 3 +intergenic LOC100422212(dist=859003),PBX1(dist=276613) chr1 164251984 164251984 G A het . 1 +intronic PBX1 chr1 164530130 164530130 A G het . 1 +intergenic PBX1(dist=106076),LMX1A(dist=209744) chr1 164961360 164961360 T C het . 1 +intronic LMX1A chr1 165309962 165309962 T C het . 1 +intronic RXRG chr1 165376227 165376227 - CG het . 4 +intronic RXRG chr1 165376232 165376233 TG - het . 5 +ncRNA_intronic LOC400794 chr1 165541412 165541412 C T het . 2 +intergenic LOC400794(dist=40031),MGST3(dist=8687) chr1 165591423 165591423 - A het . 2 +intergenic LOC400794(dist=40049),MGST3(dist=8669) chr1 165591441 165591441 C T het . 2 +intronic ALDH9A1 chr1 165634425 165634425 C G het . 5 +intronic ALDH9A1 chr1 165636749 165636749 A G het . 3 +UTR3 TMCO1(NM_001256165:c.*2998_*2995delTATA,NM_019026:c.*2998_*2995delTATA,NM_001256164:c.*2998_*2995delTATA) chr1 165694262 165694265 TATA - het . 3 +intronic TMCO1 chr1 165712556 165712557 AA - het . 16 +intronic UCK2 chr1 165847566 165847566 T C het . 1 +intronic UCK2 chr1 165859630 165859630 C G het . 2 +intronic FAM78B chr1 166124134 166124134 A G het . 4 +intergenic LINC01675(dist=2701),FMO9P(dist=111176) chr1 166461977 166461977 A - het . 2 +intergenic LINC01675(dist=2709),FMO9P(dist=111168) chr1 166461985 166461985 A G het . 2 +intergenic FMO9P(dist=9638),POGK(dist=204530) chr1 166604111 166604111 C T het . 3 +intergenic FMO9P(dist=15153),POGK(dist=199015) chr1 166609626 166609626 C T het . 2 +intergenic FMO9P(dist=15168),POGK(dist=199000) chr1 166609641 166609641 G A het . 2 +intergenic FMO9P(dist=43503),POGK(dist=170665) chr1 166637976 166637976 G T het . 3 +intergenic FMO9P(dist=55334),POGK(dist=158834) chr1 166649807 166649807 C T het . 2 +intergenic FMO9P(dist=106452),POGK(dist=107716) chr1 166700925 166700925 C A het . 2 +intergenic FMO9P(dist=199744),POGK(dist=14424) chr1 166794217 166794217 T C het . 1 +intronic TADA1 chr1 166838866 166838866 - ATTTT het . 11 +intronic GPA33 chr1 167059433 167059434 CC TT het . 3 +intronic GPA33 chr1 167059462 167059462 G C het . 7 +intronic POU2F1 chr1 167232754 167232754 - A het . 2 +UTR3 POU2F1(NM_002697:c.*278delA,NM_001198786:c.*278delA,NM_001198783:c.*278delA) chr1 167385325 167385325 A - het . 13 +UTR3 POU2F1(NM_002697:c.*297G>A,NM_001198786:c.*297G>A,NM_001198783:c.*297G>A) chr1 167385344 167385344 G A het . 20 +UTR3 POU2F1(NM_002697:c.*301C>A,NM_001198786:c.*301C>A,NM_001198783:c.*301C>A) chr1 167385348 167385348 C A het . 21 +intronic CD247 chr1 167408007 167408007 T G het . 6 +intronic RCSD1 chr1 167668050 167668050 G T het . 2 +intronic ADCY10 chr1 167792617 167792617 C T het . 1 +exonic ADCY10 chr1 167825477 167825477 T C het . 15 +exonic ADCY10 chr1 167825485 167825485 T C het . 16 +intronic ADCY10 chr1 167871298 167871298 A - het . 18 +exonic MPC2 chr1 167893759 167893759 G A het . 11 +intronic DCAF6 chr1 167971979 167971980 GC TG het . 2 +intronic DCAF6 chr1 168001752 168001752 C G het . 2 +intronic TIPRL chr1 168148529 168148529 T G het . 4 +intronic TBX19 chr1 168277904 168277904 C A het . 12 +intergenic XCL1(dist=19631),DPT(dist=93749) chr1 168570946 168570946 T - het . 4 +intronic DPT chr1 168665974 168665974 T C het . 7 +intronic DPT chr1 168670146 168670146 G T het . 3 +exonic BLZF1 chr1 169345835 169345835 C A het . 16 +exonic CCDC181 chr1 169388379 169388379 C A het . 17 +exonic CCDC181 chr1 169391306 169391306 C A het . 28 +exonic F5 chr1 169487778 169487778 C A het . 40 +intronic F5 chr1 169551581 169551581 C A het . 23 +exonic SELP chr1 169580880 169580880 C T het . 6 +exonic SELP chr1 169580885 169580885 C T het . 6 +intronic C1orf112 chr1 169772040 169772042 AAG - het . 6 +intronic C1orf112 chr1 169783246 169783246 G A het . 2 +intronic C1orf112 chr1 169795130 169795130 A G het . 11 +intronic C1orf112 chr1 169799572 169799572 - TA het . 5 +intronic SCYL3 chr1 169828098 169828098 A G het . 7 +intronic KIFAP3 chr1 169926760 169926760 - T het . 2 +intronic KIFAP3 chr1 169947146 169947146 - A het . 6 +intronic KIFAP3 chr1 169978265 169978265 G A het . 2 +UTR5 KIFAP3(NM_001204516:c.-2_-1insTGCCGC,NM_001204514:c.-32708_-32707insTGCCGC,NM_014970:c.-2_-1insTGCCGC) chr1 170043609 170043609 - GCGGCA het . 10 +ncRNA_intronic LINC01681 chr1 170179457 170179459 ATG - het . 4 +ncRNA_intronic LINC01681 chr1 170188648 170188648 C T het . 1 +intronic GORAB chr1 170508755 170508755 - T het . 17 +UTR3 GORAB(NM_152281:c.*147C>A,NM_001320252:c.*147C>A) chr1 170521750 170521750 C A het . 27 +UTR3 GORAB(NM_152281:c.*1054delT,NM_001320252:c.*1054delT) chr1 170522657 170522657 T - het . 19 +intergenic GORAB(dist=78521),PRRX1(dist=31818) chr1 170601495 170601495 G A het . 3 +intergenic PRRX1(dist=167680),MROH9(dist=28391) chr1 170876221 170876221 T G het . 2 +intronic FMO3 chr1 171060732 171060732 - C het . 2 +intronic FMO3 chr1 171060738 171060738 A C het . 2 +ncRNA_exonic FMO6P chr1 171130599 171130603 ACACA - het . 3 +exonic FMO1 chr1 171251130 171251130 G A het . 14 +UTR3 FMO4(NM_002022:c.*25A>C) chr1 171311003 171311003 A C het . 2 +intergenic FMO4(dist=71573),PRRC2C(dist=71870) chr1 171382796 171382796 G A het . 4 +intronic PRRC2C chr1 171458250 171458250 T C het . 3 +intronic PRRC2C chr1 171478523 171478523 G A het . 1 +intronic PRRC2C chr1 171491264 171491264 T A het . 8 +intronic PRRC2C chr1 171496295 171496295 A G het . 2 +exonic PRRC2C chr1 171506539 171506539 T G het . 23 +intronic PRRC2C chr1 171514848 171514848 - TTTA het . 6 +exonic PRRC2C chr1 171526570 171526570 G A het . 15 +exonic PRRC2C chr1 171526910 171526910 G A het . 11 +intergenic PRRC2C(dist=4689),MYOC(dist=37218) chr1 171567339 171567339 T C het . 3 +intergenic PRRC2C(dist=31100),MYOC(dist=10807) chr1 171593750 171593750 G T het . 2 +intergenic PRRC2C(dist=31102),MYOC(dist=10805) chr1 171593752 171593752 G T het . 2 +intergenic PRRC2C(dist=31114),MYOC(dist=10793) chr1 171593764 171593764 T G het . 2 +intronic MYOC chr1 171618949 171618949 G A het . 2 +intergenic VAMP4(dist=26569),METTL13(dist=12813) chr1 171737948 171737948 A G het . 1 +intronic C1orf105 chr1 172414342 172414342 C T het . 14 +intronic SUCO chr1 172522249 172522249 A G het . 10 +intronic SUCO chr1 172526605 172526605 C A het . 14 +intergenic FASLG(dist=64856),TNFSF18(dist=309492) chr1 172700868 172700868 G A het . 2 +intergenic FASLG(dist=81782),TNFSF18(dist=292566) chr1 172717794 172717794 C A het . 34 +intergenic FASLG(dist=119122),TNFSF18(dist=255226) chr1 172755134 172755134 C T het . 2 +intergenic TNFSF18(dist=17145),TNFSF4(dist=115622) chr1 173037248 173037248 A G het . 3 +ncRNA_intronic LOC100506023 chr1 173301683 173301683 T A het . 2 +intronic DARS2 chr1 173794587 173794587 - ATTATT het . 7 +intronic DARS2 chr1 173795821 173795821 A T het . 15 +intronic DARS2 chr1 173819422 173819422 A - het . 20 +ncRNA_intronic GAS5 chr1 173835747 173835747 A C het . 13 +UTR3 RC3H1(NM_172071:c.*5T>C,NM_001300851:c.*5T>C,NM_001300850:c.*5T>C,NM_001300852:c.*5T>C) chr1 173907854 173907854 A G het . 6 +intronic RC3H1 chr1 173911380 173911380 A - het . 2 +intronic RC3H1 chr1 173930702 173930702 A - het . 3 +intronic RABGAP1L chr1 174338695 174338695 G A het . 2 +UTR5 GPR52(NM_005684:c.-19G>A) chr1 174417231 174417231 G A het . 3 +intronic RABGAP1L chr1 174752938 174752938 C G het . 1 +intronic RABGAP1L chr1 174788383 174788383 G A het . 2 +intronic RABGAP1L chr1 174933593 174933593 C T het . 2 +intergenic MRPS14(dist=22016),TNN(dist=22387) chr1 175014607 175014607 T C het . 5 +intronic TNN chr1 175043243 175043243 A G het . 1 +exonic TNN chr1 175066690 175066690 G A het . 14 +intronic TNN chr1 175087677 175087677 G A het . 7 +exonic TNN chr1 175087729 175087729 T C het . 2 +intronic TNN chr1 175095936 175095936 C T het . 2 +exonic KIAA0040 chr1 175129924 175129924 - CTT het . 23 +exonic KIAA0040 chr1 175129946 175129946 C - het . 29 +exonic KIAA0040 chr1 175129948 175129955 TCTTCTTG - het . 32 +intergenic KIAA0040(dist=96290),TNR(dist=33416) chr1 175258519 175258519 T C het . 1 +intergenic KIAA0040(dist=97249),TNR(dist=32457) chr1 175259478 175259478 A C het . 2 +intronic TNR chr1 175324519 175324520 CA - het . 4 +intronic TNR chr1 175324521 175324521 A T het . 4 +intronic TNR chr1 175336530 175336530 T C het . 3 +intronic TNR chr1 175364742 175364742 T - het . 2 +intronic COP1 chr1 175934721 175934721 - TTTG het . 2 +intronic COP1 chr1 175945390 175945390 A C het . 3 +exonic COP1 chr1 176015346 176015346 C A het . 15 +intronic COP1 chr1 176050431 176050432 AA - het . 9 +intronic COP1 chr1 176103054 176103055 AC - het . 15 +intronic COP1 chr1 176153658 176153658 T C het . 7 +exonic PAPPA2 chr1 176526148 176526148 G A het . 23 +intronic PAPPA2 chr1 176543100 176543100 T - het . 2 +intronic PAPPA2 chr1 176687423 176687423 G T het . 3 +intronic PAPPA2 chr1 176765752 176765752 T - het . 3 +intronic PAPPA2 chr1 176765752 176765752 - TTTC het . 3 +intergenic PAPPA2(dist=10812),ASTN1(dist=3659) chr1 176822782 176822782 A - het . 2 +exonic BRINP2 chr1 177199202 177199202 C T het . 9 +intergenic LINC01741(dist=18066),SEC16B(dist=200393) chr1 177697531 177697531 G - het . 1 +intronic CRYZL2P-SEC16B,SEC16B chr1 177930096 177930096 T C het . 6 +intronic RASAL2 chr1 178398932 178398932 C G het . 1 +exonic RASAL2 chr1 178411950 178411950 C A het . 35 +exonic TEX35 chr1 178483868 178483868 C T het . 15 +exonic TEX35 chr1 178489924 178489924 C A het . 18 +intergenic MIR4424(dist=17229),RALGPS2(dist=30084) chr1 178664198 178664198 A - het . 3 +intergenic MIR4424(dist=18624),RALGPS2(dist=28689) chr1 178665593 178665593 C T het . 2 +intronic RALGPS2 chr1 178754864 178754864 C A het . 16 +intronic FAM20B chr1 179035866 179035866 C A het . 13 +intronic ABL2 chr1 179117101 179117101 G A het . 3 +intronic ABL2 chr1 179137138 179137138 A G het . 13 +intronic ABL2 chr1 179153675 179153675 C T het . 7 +intronic ABL2 chr1 179153697 179153697 G A het . 5 +intronic ABL2 chr1 179167978 179167979 TT - het . 2 +intronic ABL2 chr1 179192238 179192238 C T het . 1 +intergenic ABL2(dist=27091),SOAT1(dist=36939) chr1 179225910 179225910 A - het . 2 +intronic SOAT1 chr1 179311494 179311494 G A het . 2 +intronic AXDND1 chr1 179335930 179335932 CTC - het . 5 +intronic AXDND1 chr1 179335952 179335952 C A het . 2 +intronic AXDND1 chr1 179335960 179335960 C T het . 1 +intronic AXDND1 chr1 179364391 179364391 A G het . 18 +intronic AXDND1 chr1 179364394 179364394 G C het . 18 +intronic AXDND1 chr1 179416878 179416878 C T het . 14 +intronic AXDND1 chr1 179441653 179441653 G A het . 2 +intronic AXDND1 chr1 179441687 179441687 T G het . 3 +intronic AXDND1 chr1 179497359 179497359 T C het . 8 +exonic AXDND1 chr1 179503912 179503912 C A het . 26 +exonic AXDND1 chr1 179504026 179504028 AAG - het . 35 +exonic AXDND1 chr1 179504043 179504043 C G het . 41 +UTR5 TDRD5(NM_001199091:c.-68A>T) chr1 179561683 179561683 A T het . 3 +intronic TDRD5 chr1 179620247 179620247 C T het . 6 +intronic TDRD5 chr1 179620253 179620253 G A het . 7 +intronic TDRD5 chr1 179630514 179630514 - T het . 1 +intronic TDRD5 chr1 179630536 179630536 C T het . 2 +intronic TOR1AIP1 chr1 179852159 179852160 GC CT het . 6 +intronic TOR1AIP1 chr1 179859742 179859742 T - het . 2 +intronic TOR1AIP1 chr1 179870426 179870426 C A het . 17 +intronic TOR1AIP1 chr1 179876034 179876034 G C het . 2 +intronic TOR1AIP1 chr1 179883278 179883278 C A het . 15 +exonic CEP350 chr1 179966166 179966166 C A het . 28 +intronic CEP350 chr1 180010702 180010702 T C het . 6 +intronic QSOX1 chr1 180124872 180124872 T C het . 2 +intronic ACBD6 chr1 180283659 180283659 T C het . 2 +intronic ACBD6 chr1 180471054 180471054 C A het . 5 +intronic ACBD6 chr1 180471066 180471066 C T het . 8 +UTR5 ACBD6(NM_032360:c.-88A>G) chr1 180471489 180471489 T C het . 7 +intergenic OVAAL(dist=24231),XPR1(dist=41261) chr1 180559885 180559885 A - het . 2 +intergenic OVAAL(dist=24237),XPR1(dist=41255) chr1 180559891 180559891 A G het . 2 +intronic XPR1 chr1 180757117 180757117 - T het . 8 +exonic KIAA1614 chr1 180913597 180913597 A G het . 13 +intergenic KIAA1614-AS1(dist=6001),STX6(dist=11826) chr1 180930024 180930024 C G het . 1 +intronic STX6 chr1 180991665 180991665 C G het . 3 +intronic MR1 chr1 181017348 181017348 A G het . 2 +intronic MR1 chr1 181017360 181017360 - AAATA het . 2 +exonic IER5 chr1 181058191 181058191 G T het . 14 +exonic IER5 chr1 181058618 181058618 C G het . 7 +exonic IER5 chr1 181058643 181058643 A G het . 5 +intergenic LINC01699(dist=44488),CACNA1E(dist=200458) chr1 181252228 181252228 A G het . 2 +intergenic LINC01699(dist=199243),CACNA1E(dist=45703) chr1 181406983 181406983 C A het . 3 +intronic CACNA1E chr1 181597172 181597172 C T het . 1 +intronic CACNA1E chr1 181752924 181752928 AGCTT - het . 7 +intronic CACNA1E chr1 181762771 181762771 C A het . 9 +intergenic CACNA1E(dist=44636),ZNF648(dist=203148) chr1 181820557 181820557 A - het . 3 +intergenic CACNA1E(dist=44640),ZNF648(dist=203144) chr1 181820561 181820561 A C het . 3 +intergenic ZNF648(dist=57965),LINC01344(dist=84268) chr1 182088812 182088812 C G het . 2 +intergenic ZNF648(dist=112095),LINC01344(dist=30138) chr1 182142942 182142942 A T het . 3 +ncRNA_intronic LINC01344 chr1 182260307 182260307 - GGG het . 2 +ncRNA_intronic LINC01344 chr1 182266873 182266873 G A het . 1 +intergenic LINC00272(dist=23571),RGSL1(dist=11737) chr1 182407519 182407519 C G het . 2 +intronic RGSL1 chr1 182470380 182470380 G T het . 3 +intronic RGSL1 chr1 182470401 182470401 - TCTT het . 2 +intronic RGSL1 chr1 182477807 182477807 G T het . 3 +intronic RGSL1 chr1 182499296 182499296 A - het . 8 +intronic RGSL1 chr1 182502033 182502033 G T het . 5 +intronic RNASEL chr1 182550200 182550200 A G het . 2 +intronic RGS16 chr1 182571003 182571003 C T het . 6 +UTR5 RGS8(NM_033345:c.-82A>C,NM_001102450:c.-3257A>C) chr1 182642041 182642041 T G het . 7 +intronic SHCBP1L chr1 182920666 182920666 T - het . 3 +intronic LAMC1 chr1 183083907 183083907 C T het . 4 +intronic LAMC1 chr1 183095477 183095477 G A het . 2 +intronic LAMC1 chr1 183100308 183100308 A - het . 4 +intronic LAMC1 chr1 183100555 183100555 T C het . 10 +intronic LAMC1 chr1 183100563 183100563 G T het . 10 +intronic LAMC1 chr1 183104527 183104527 T C het . 3 +intronic LAMC2 chr1 183195081 183195081 G A het . 4 +intronic LAMC2 chr1 183202085 183202085 C A het . 12 +intronic NMNAT2 chr1 183290050 183290050 C T het . 2 +intronic NMNAT2 chr1 183307343 183307343 T A het . 1 +intronic NMNAT2 chr1 183372038 183372038 C - het . 4 +exonic SMG7 chr1 183486834 183486834 C A het . 17 +exonic SMG7 chr1 183486859 183486859 G A het . 21 +intronic RGL1 chr1 183691776 183691776 G A het . 1 +intronic RGL1 chr1 183711483 183711483 C T het . 7 +UTR5 RGL1(NM_001297672:c.-18C>A,NM_001297671:c.-18C>A) chr1 183774414 183774414 C A het . 37 +intronic RGL1 chr1 183866708 183866708 G T het . 2 +splicing COLGALT2(NM_001303420:exon11:c.1604+1G>T,NM_015101:exon11:c.1604+1G>T,NM_001303421:exon11:c.1244+1G>T) chr1 183909714 183909714 C A het . 14 +intronic C1orf21 chr1 184400947 184400947 C T het . 2 +intronic C1orf21 chr1 184476576 184476576 C A het . 3 +intronic C1orf21 chr1 184536611 184536611 T G het . 6 +intronic C1orf21 chr1 184537507 184537509 CTC - het . 9 +UTR3 C1orf21(NM_030806:c.*7806C>A) chr1 184596496 184596496 C A het . 2 +exonic EDEM3 chr1 184675814 184675814 G A het . 6 +intronic FAM129A chr1 184863516 184863516 C A het . 3 +intronic TRMT1L chr1 185097674 185097674 C A het . 11 +exonic TRMT1L chr1 185106756 185106756 C A het . 15 +intronic TRMT1L chr1 185119794 185119794 C T het . 3 +intronic SWT1 chr1 185140797 185140797 T - het . 17 +exonic SWT1 chr1 185143959 185143959 C A het . 37 +intronic SWT1 chr1 185191181 185191182 GG AA het . 4 +intronic IVNS1ABP chr1 185269101 185269101 A - het . 16 +intronic IVNS1ABP chr1 185279655 185279655 T C het . 1 +intronic HMCN1 chr1 185951574 185951574 T - het . 20 +exonic HMCN1 chr1 186026487 186026487 A G het . 34 +intronic HMCN1 chr1 186034252 186034252 T G het . 10 +intergenic HMCN1(dist=87387),PRG4(dist=17930) chr1 186247472 186247475 TTTT - het . 2 +intronic PRG4 chr1 186270894 186270894 A G het . 15 +exonic TPR chr1 186296603 186296603 C A het . 25 +exonic TPR chr1 186296618 186296618 C A het . 30 +intronic TPR chr1 186339878 186339878 C A het . 1 +intronic ODR4 chr1 186352347 186352347 A T het . 18 +intronic ODR4 chr1 186357523 186357523 T C het . 6 +intronic ODR4 chr1 186368339 186368339 T - het . 14 +intronic PLA2G4A chr1 186839769 186839769 C A het . 22 +intronic PLA2G4A chr1 186863051 186863051 A - het . 11 +ncRNA_intronic LINC01036 chr1 187143433 187143433 C A het . 1 +ncRNA_intronic LINC01036 chr1 187262281 187262281 C T het . 1 +intergenic LINC01037(dist=86090),NONE(dist=NONE) chr1 187532444 187532444 - GTGGGCTC het . 8 +intergenic LINC01037(dist=157480),NONE(dist=NONE) chr1 187603834 187603834 A G het . 1 +intergenic LINC01037(dist=157482),NONE(dist=NONE) chr1 187603836 187603836 A G het . 1 +intergenic LINC01037(dist=164423),NONE(dist=NONE) chr1 187610777 187610777 C G het . 14 +intergenic LINC01037(dist=179023),NONE(dist=NONE) chr1 187625377 187625377 A G het . 2 +intergenic LINC01037(dist=238121),NONE(dist=NONE) chr1 187684475 187684475 T C het . 2 +intergenic LINC01037(dist=402957),NONE(dist=NONE) chr1 187849311 187849311 A G het . 2 +intergenic LINC01037(dist=877658),BRINP3(dist=1742785) chr1 188324012 188324012 G T het . 2 +intergenic LINC01037(dist=980493),BRINP3(dist=1639950) chr1 188426847 188426847 - T het . 2 +intergenic LINC01037(dist=1069308),BRINP3(dist=1551135) chr1 188515662 188515662 A - het . 2 +intergenic LINC01037(dist=1084905),BRINP3(dist=1535537) chr1 188531259 188531260 AC - het . 2 +intergenic LINC01037(dist=1227759),BRINP3(dist=1392684) chr1 188674113 188674113 G A het . 2 +intergenic LINC01037(dist=1749507),BRINP3(dist=870936) chr1 189195861 189195861 A - het . 3 +intergenic LINC01037(dist=1911839),BRINP3(dist=708604) chr1 189358193 189358193 C T het . 2 +intergenic NONE(dist=NONE),BRINP3(dist=358741) chr1 189708056 189708056 T A het . 2 +intergenic NONE(dist=NONE),BRINP3(dist=335459) chr1 189731338 189731338 A C het . 2 +intergenic NONE(dist=NONE),BRINP3(dist=303042) chr1 189763755 189763755 A C het . 2 +intergenic NONE(dist=NONE),BRINP3(dist=296671) chr1 189770126 189770126 C A het . 2 +intergenic LINC01351(dist=85656),LINC01720(dist=57840) chr1 190536180 190536180 T C het . 2 +ncRNA_intronic LINC01720 chr1 190679631 190679631 T - het . 2 +intergenic LINC01720(dist=3257),LINC01680(dist=416244) chr1 190774045 190774045 C T het . 3 +intergenic LINC01720(dist=239800),LINC01680(dist=179701) chr1 191010588 191010588 C T het . 2 +intergenic LINC01680(dist=358812),RGS18(dist=571152) chr1 191556440 191556440 T A het . 3 +intergenic LINC01680(dist=416563),RGS18(dist=513401) chr1 191614191 191614191 T C het . 2 +intergenic LINC01680(dist=492478),RGS18(dist=437486) chr1 191690106 191690106 A G het . 3 +intergenic LINC01680(dist=714363),RGS18(dist=215601) chr1 191911991 191911991 T A het . 2 +exonic RGS21 chr1 192335084 192335084 T A het . 32 +UTR3 RGS21(NM_001039152:c.*17_*18insTAAT) chr1 192335271 192335271 - TAAT het . 25 +intergenic MIR4426(dist=66296),RGS2(dist=26353) chr1 192751816 192751816 G T het . 2 +ncRNA_intronic LINC01032 chr1 192907276 192907277 AA - het . 2 +intronic TROVE2 chr1 193045324 193045324 A G het . 2 +intronic CDC73 chr1 193202001 193202001 C G het . 16 +intronic CDC73 chr1 193202033 193202033 A - het . 13 +intergenic LINC01031(dist=479119),NONE(dist=NONE) chr1 193814202 193814202 A T het . 3 +intergenic LINC01031(dist=496448),NONE(dist=NONE) chr1 193831531 193831531 C A het . 3 +intergenic LINC01031(dist=603477),NONE(dist=NONE) chr1 193938560 193938561 AA - het . 4 +intergenic LINC01031(dist=672732),LINC01724(dist=2006195) chr1 194007815 194007815 C A het . 1 +intergenic LINC01031(dist=697592),LINC01724(dist=1981335) chr1 194032675 194032675 T - het . 2 +intergenic LINC01031(dist=987161),LINC01724(dist=1691766) chr1 194322244 194322244 T A het . 3 +intergenic LINC01031(dist=1225777),LINC01724(dist=1453150) chr1 194560860 194560860 A - het . 3 +intergenic LINC01031(dist=1662058),LINC01724(dist=1016869) chr1 194997141 194997141 T C het . 2 +intergenic LINC01031(dist=1708874),LINC01724(dist=970053) chr1 195043957 195043957 C A het . 2 +intergenic LINC01031(dist=1709365),LINC01724(dist=969562) chr1 195044448 195044448 T G het . 2 +intergenic LINC01031(dist=1710582),LINC01724(dist=968345) chr1 195045665 195045665 T G het . 2 +intergenic LINC01031(dist=1710592),LINC01724(dist=968335) chr1 195045675 195045675 A C het . 2 +intergenic LINC01031(dist=1815479),LINC01724(dist=863448) chr1 195150562 195150562 G A het . 2 +intergenic NONE(dist=NONE),LINC01724(dist=224081) chr1 195789929 195789929 A G het . 1 +intergenic NONE(dist=NONE),LINC01724(dist=203965) chr1 195810045 195810045 C A het . 1 +intronic KCNT2 chr1 196227711 196227711 - GTTATA het . 19 +intronic KCNT2 chr1 196280805 196280805 C T het . 2 +intronic CFH chr1 196648965 196648965 C A het . 18 +intergenic CFHR1(dist=46150),CFHR4(dist=9675) chr1 196847469 196847469 T G het . 4 +exonic CFHR2 chr1 196918738 196918738 C T het . 30 +intronic CFHR5 chr1 196952909 196952910 TA - het . 9 +intronic CFHR5 chr1 196966853 196966853 G A het . 2 +intergenic CFHR5(dist=5876),F13B(dist=23642) chr1 196984679 196984679 A G het . 2 +UTR3 ASPM(NM_018136:c.*81C>T,NM_001206846:c.*81C>T) chr1 197053373 197053373 G A het . 6 +intronic ASPM chr1 197060295 197060295 C A het . 28 +intronic ASPM chr1 197084463 197084463 T G het . 3 +intronic ASPM chr1 197091234 197091234 C A het . 40 +intronic ASPM chr1 197093921 197093921 C A het . 30 +intronic ASPM chr1 197097473 197097473 - A het . 5 +intronic ZBTB41 chr1 197141243 197141243 A C het . 7 +intronic ZBTB41 chr1 197145382 197145382 C G het . 3 +intronic ZBTB41 chr1 197145413 197145413 T C het . 2 +intronic ZBTB41 chr1 197145999 197145999 C A het . 2 +intronic CRB1 chr1 197216632 197216632 A G het . 2 +intronic CRB1 chr1 197288476 197288476 T C het . 5 +intronic CRB1 chr1 197297540 197297540 A T het . 21 +intronic CRB1 chr1 197298373 197298373 T C het . 5 +intronic CRB1 chr1 197325908 197325908 T G het . 8 +intronic CRB1 chr1 197375864 197375864 T - het . 3 +intronic CRB1 chr1 197422902 197422902 A C het . 2 +intronic CRB1 chr1 197422905 197422905 A C het . 2 +intronic CRB1 chr1 197422932 197422932 T C het . 2 +UTR3 CRB1(NM_001257965:c.*28T>C,NM_001193640:c.*28T>C,NM_001257966:c.*28T>C,NM_201253:c.*28T>C) chr1 197447037 197447037 T C het . 14 +intronic DENND1B chr1 197514199 197514199 G T het . 3 +intronic DENND1B chr1 197590190 197590190 A G het . 2 +intronic DENND1B chr1 197658799 197658799 C T het . 2 +intronic DENND1B chr1 197741951 197741951 C A het . 18 +intronic LHX9 chr1 197898023 197898023 - A het . 10 +intergenic LHX9(dist=1933),NEK7(dist=224902) chr1 197901206 197901206 - A het . 11 +intergenic LHX9(dist=63129),NEK7(dist=163706) chr1 197962402 197962402 C T het . 2 +intronic NEK7 chr1 198167287 198167287 T C het . 7 +downstream NEK7(dist=657) chr1 198292205 198292205 - G het . 2 +intergenic NEK7(dist=39515),ATP6V1G3(dist=161289) chr1 198331063 198331063 C T het . 2 +intergenic ATP6V1G3(dist=74891),PTPRC(dist=23132) chr1 198584966 198584966 T - het . 3 +intronic PTPRC chr1 198691479 198691480 AT - het . 19 +intronic PTPRC chr1 198698349 198698349 A G het . 21 +intronic PTPRC chr1 198711171 198711171 A - het . 24 +intronic PTPRC chr1 198713515 198713515 A G het . 3 +intergenic MIR181A1HG(dist=11944),LINC01222(dist=43216) chr1 198918502 198918502 T C het . 2 +intergenic MIR181A1HG(dist=11966),LINC01222(dist=43194) chr1 198918524 198918524 A G het . 2 +intergenic MIR181A1HG(dist=12058),LINC01222(dist=43102) chr1 198918616 198918616 C G het . 3 +intergenic LINC01221(dist=66480),LOC400800(dist=5382) chr1 199112344 199112344 A T het . 2 +ncRNA_intronic LOC400800 chr1 199318537 199318537 A - het . 2 +intergenic LOC400800(dist=204573),NR5A2(dist=429722) chr1 199567008 199567008 G T het . 1 +intergenic LOC400800(dist=285314),NR5A2(dist=348981) chr1 199647749 199647749 G A het . 1 +intergenic LOC400800(dist=327454),NR5A2(dist=306841) chr1 199689889 199689889 G A het . 2 +intergenic LOC400800(dist=457239),NR5A2(dist=177053) chr1 199819674 199819677 AAAA - het . 7 +intergenic LOC400800(dist=468328),NR5A2(dist=165967) chr1 199830763 199830763 G A het . 1 +intergenic LOC400800(dist=476804),NR5A2(dist=157491) chr1 199839239 199839239 A G het . 2 +intronic NR5A2 chr1 200080614 200080614 T G het . 3 +intergenic NR5A2(dist=36217),LINC00862(dist=128905) chr1 200182767 200182767 C A het . 24 +exonic ZNF281 chr1 200377226 200377226 C A het . 17 +intronic KIF14 chr1 200523514 200523514 A G het . 13 +intronic KIF14 chr1 200523518 200523518 - A het . 13 +intronic KIF14 chr1 200534517 200534517 C A het . 17 +exonic KIF14 chr1 200586864 200586864 C T het . 35 +intronic DDX59 chr1 200619333 200619333 A T het . 1 +intronic CAMSAP2 chr1 200798831 200798831 G T het . 2 +intronic CAMSAP2 chr1 200798900 200798900 G C het . 4 +intronic CAMSAP2 chr1 200816521 200816521 G T het . 13 +upstream GPR25(dist=825) chr1 200841258 200841258 C T het . 1 +ncRNA_intronic MROH3P chr1 200908358 200908362 TTTTG - het . 2 +intronic KIF21B chr1 200943794 200943797 AGGA - het . 9 +intronic KIF21B chr1 200967778 200967778 G T het . 3 +exonic CACNA1S chr1 201010647 201010647 G A het . 28 +exonic CACNA1S chr1 201047150 201047150 G T het . 16 +intronic CACNA1S chr1 201060943 201060943 G A het . 22 +intronic CACNA1S chr1 201079590 201079590 C A het . 2 +intronic TMEM9 chr1 201139616 201139616 G A het . 1 +intronic IGFN1 chr1 201171007 201171007 T G het . 1 +intronic IGFN1 chr1 201173104 201173104 C T het . 1 +intronic PKP1 chr1 201286615 201286615 A - het . 6 +intronic PKP1 chr1 201286628 201286628 C G het . 6 +intronic PKP1 chr1 201292110 201292110 T C het . 2 +exonic TNNT2 chr1 201328377 201328377 C A het . 31 +intronic TNNT2 chr1 201328929 201328929 T G het . 7 +intronic TNNT2 chr1 201341341 201341341 C T het . 18 +intergenic PHLDA3(dist=9578),CSRP1(dist=4781) chr1 201447877 201447877 G C het . 2 +intronic CSRP1 chr1 201456561 201456561 A - het . 2 +ncRNA_exonic RPS10P7 chr1 201489266 201489266 A G het . 6 +intergenic RPS10P7(dist=34233),NAV1(dist=93497) chr1 201523953 201523953 A G het . 2 +intergenic RPS10P7(dist=76221),NAV1(dist=51509) chr1 201565941 201565941 - TTTG het . 2 +ncRNA_intronic IPO9-AS1 chr1 201735660 201735660 T - het . 2 +ncRNA_intronic IPO9-AS1 chr1 201742382 201742382 G T het . 1 +ncRNA_intronic IPO9-AS1 chr1 201748715 201748715 G A het . 1 +ncRNA_intronic IPO9-AS1 chr1 201773731 201773731 T A het . 8 +ncRNA_intronic IPO9-AS1 chr1 201783209 201783209 C A het . 1 +UTR3 IPO9(NM_018085:c.*250C>T) chr1 201845432 201845432 C T het . 4 +exonic LMOD1 chr1 201869267 201869267 C A het . 40 +exonic LMOD1 chr1 201869717 201869717 C A het . 24 +intronic LMOD1 chr1 201915140 201915140 A T het . 3 +intergenic TIMM17A(dist=5725),SNORA70H(dist=2075) chr1 201945514 201945514 G T het . 4 +UTR5 RNPEP(NM_001319182:c.-17T>C) chr1 201952574 201952574 T C het . 17 +intronic RNPEP chr1 201967182 201967182 T C het . 4 +intergenic ELF3(dist=75800),GPR37L1(dist=29854) chr1 202062115 202062115 G T het . 2 +UTR5 GPR37L1(NM_004767:c.-46C>T) chr1 202092046 202092046 C T het . 5 +exonic GPR37L1 chr1 202092360 202092360 G A het . 5 +ncRNA_exonic PTPRVP chr1 202156482 202156482 G A het . 1 +intronic LGR6 chr1 202274936 202274936 T C het . 10 +exonic LGR6 chr1 202287813 202287813 T C het . 12 +intronic PPP1R12B chr1 202527795 202527795 T C het . 3 +intronic KDM5B chr1 202698370 202698370 C A het . 13 +intronic KDM5B chr1 202731986 202731986 - CTCAA het . 13 +intergenic MGAT4EP(dist=11833),LOC148709(dist=22708) chr1 202808174 202808174 G T het . 2 +intergenic MGAT4EP(dist=22901),LOC148709(dist=11640) chr1 202819242 202819242 A T het . 3 +intergenic MGAT4EP(dist=22905),LOC148709(dist=11636) chr1 202819246 202819246 A T het . 3 +intronic KLHL12 chr1 202893919 202893919 C T het . 2 +intronic PPFIA4 chr1 202997214 202997214 A G het . 2 +intronic PPFIA4 chr1 203040922 203040922 G T het . 14 +UTR3 PPFIA4(NM_001304332:c.*65T>C,NM_001304331:c.*65T>C) chr1 203045583 203045583 T C het . 3 +intronic CHIT1 chr1 203194758 203194758 A C het . 12 +upstream CHIT1(dist=10) chr1 203198870 203198870 A C het . 5 +upstream CHIT1(dist=14) chr1 203198874 203198874 G C het . 5 +upstream CHIT1(dist=18) chr1 203198878 203198878 T G het . 5 +upstream CHIT1(dist=22) chr1 203198882 203198882 T G het . 5 +upstream CHIT1(dist=29) chr1 203198889 203198889 G T het . 4 +intergenic CHIT1(dist=26679),LINC01353(dist=30741) chr1 203225539 203225539 A C het . 15 +intergenic BTG2(dist=23128),FMOD(dist=7892) chr1 203301857 203301857 G T het . 2 +intergenic FMOD(dist=42792),PRELP(dist=81534) chr1 203363349 203363349 C G het . 2 +intronic OPTC chr1 203472506 203472506 C T het . 3 +intronic LAX1 chr1 203740692 203740692 T C het . 9 +intronic ZC3H11A chr1 203774870 203774870 G T het . 26 +intronic ZC3H11A chr1 203787627 203787627 C A het . 15 +intronic SNRPE chr1 203833111 203833111 T C het . 1 +ncRNA_intronic LINC00303 chr1 204005018 204005018 C T het . 1 +intergenic LINC00303(dist=6372),SOX13(dist=25482) chr1 204016764 204016764 G A het . 1 +intergenic LINC00628(dist=19437),PPP1R15B(dist=14208) chr1 204358284 204358284 G A het . 2 +exonic PPP1R15B chr1 204379355 204379355 C A het . 15 +exonic PIK3C2B chr1 204429775 204429775 C A het . 13 +intronic PIK3C2B chr1 204434277 204434277 T C het . 1 +intronic MDM4 chr1 204495595 204495595 - T het . 6 +intronic MDM4 chr1 204505977 204505977 A - het . 8 +UTR3 MDM4(NM_001204172:c.*32C>A,NM_001204171:c.*32C>A,NM_001278516:c.*1014C>A,NM_001278519:c.*32C>A,NM_001278518:c.*675C>A,NM_001278517:c.*32C>A,NM_002393:c.*32C>A) chr1 204518842 204518842 C A het . 3 +intergenic MDM4(dist=22058),LRRN2(dist=36997) chr1 204549306 204549306 G A het . 3 +intronic NFASC chr1 204877142 204877142 T C het . 2 +intronic NFASC chr1 204915393 204915393 A G het . 3 +intronic NFASC chr1 204915904 204915904 A G het . 18 +intronic NFASC chr1 204915920 204915920 T C het . 11 +intronic NFASC chr1 204915939 204915939 T C het . 12 +intronic NFASC chr1 204943991 204943992 CA TG het . 12 +intronic CNTN2 chr1 205038731 205038731 C T het . 2 +intronic CNTN2 chr1 205041465 205041465 T C het . 1 +intronic RBBP5 chr1 205059282 205059282 A G het . 2 +intergenic RBBP5(dist=9513),DSTYK(dist=10968) chr1 205100663 205100663 G C het . 2 +intergenic TMCC2(dist=3838),NUAK2(dist=24881) chr1 205246309 205246310 TT - het . 3 +intronic KLHDC8A chr1 205307815 205307815 C A het . 7 +intronic LEMD1 chr1 205380071 205380071 G A het . 3 +intergenic LOC284577(dist=3440),CDK18(dist=32089) chr1 205441592 205441595 GGAA - het . 1 +intronic MFSD4A chr1 205547036 205547036 C T het . 2 +intronic MFSD4A chr1 205558200 205558200 A G het . 2 +intronic ELK4 chr1 205594808 205594809 TT - het . 7 +intronic SLC45A3 chr1 205630942 205630942 C A het . 2 +UTR3 RAB29(NM_001135663:c.*204G>A,NM_001135662:c.*204G>A,NM_001135664:c.*204G>A,NM_003929:c.*204G>A) chr1 205739266 205739266 C T het . 2 +intronic RAB29 chr1 205740403 205740403 A G het . 2 +intronic RAB29 chr1 205741816 205741816 A T het . 12 +intergenic RAB29(dist=10436),SLC41A1(dist=3175) chr1 205755046 205755046 G A het . 1 +intronic SLC41A1 chr1 205766160 205766160 A - het . 15 +exonic PM20D1 chr1 205801872 205801872 A G het . 3 +intergenic FAM72A(dist=1166),AVPR1B(dist=67964) chr1 206156317 206156317 - TTTG het . 3 +intronic RHEX chr1 206279447 206279447 T - het . 2 +exonic IKBKE chr1 206651107 206651107 G A het . 6 +exonic IKBKE chr1 206651143 206651143 G A het . 8 +intronic IKBKE chr1 206651725 206651725 C T het . 4 +intronic IKBKE chr1 206653115 206653115 G A het . 2 +intronic RASSF5 chr1 206702871 206702871 C A het . 23 +intronic RASSF5 chr1 206733417 206733417 C T het . 1 +intronic EIF2D chr1 206770430 206770430 G A het . 7 +intronic EIF2D chr1 206776203 206776203 T C het . 3 +exonic DYRK3 chr1 206821738 206821738 C A het . 11 +intronic MAPKAPK2 chr1 206905293 206905293 T G het . 10 +intronic MAPKAPK2 chr1 206905299 206905299 T G het . 9 +intronic IL10 chr1 206944861 206944861 A C het . 18 +exonic IL10 chr1 206945692 206945692 C A het . 24 +intergenic IL10(dist=23433),IL19(dist=2943) chr1 206969272 206969272 A G het . 2 +intronic IL20 chr1 207040627 207040627 C A het . 7 +intronic FCAMR chr1 207139362 207139362 C G het . 2 +intronic C4BPB chr1 207262980 207262980 T G het . 7 +intronic C4BPA chr1 207297484 207297484 G C het . 5 +exonic C4BPA chr1 207297680 207297680 T C het . 10 +intronic CD55 chr1 207512577 207512577 - TAA het . 12 +exonic CD55 chr1 207513869 207513869 C T het . 22 +intergenic CD55(dist=50714),CR2(dist=42620) chr1 207585025 207585025 G A het . 2 +intronic CR1L chr1 207828633 207828634 TT - het . 16 +intergenic CR1L(dist=17756),CD46(dist=10591) chr1 207914792 207914792 T G het . 3 +intronic CD46 chr1 207930564 207930564 - T het . 28 +intronic CD46 chr1 207934487 207934487 A C het . 2 +exonic CD46 chr1 207940467 207940468 CC AA het . 44 +intronic CD46 chr1 207959123 207959125 TTT - het . 8 +intronic CD46 chr1 207959136 207959136 - AA het . 11 +intronic CD34 chr1 208062260 208062260 T C het . 4 +intronic CD34 chr1 208063067 208063067 G A het . 8 +intronic CD34 chr1 208063099 208063099 - C het . 7 +intronic CD34 chr1 208063100 208063100 G A het . 7 +intronic PLXNA2 chr1 208206379 208206379 - TT het . 2 +intronic PLXNA2 chr1 208206394 208206394 A G het . 2 +intronic PLXNA2 chr1 208213125 208213125 A G het . 4 +intergenic PLXNA2(dist=30524),LINC01717(dist=453844) chr1 208448189 208448189 - T het . 2 +intergenic PLXNA2(dist=32981),LINC01717(dist=451387) chr1 208450646 208450646 C T het . 3 +intergenic PLXNA2(dist=160053),LINC01717(dist=324315) chr1 208577718 208577718 T C het . 2 +intergenic PLXNA2(dist=246252),LINC01717(dist=238116) chr1 208663917 208663917 - G het . 2 +intergenic PLXNA2(dist=282090),LINC01717(dist=202278) chr1 208699755 208699755 T A het . 2 +intergenic PLXNA2(dist=402400),LINC01717(dist=81968) chr1 208820065 208820065 - CTTTT het . 4 +intergenic PLXNA2(dist=452951),LINC01717(dist=31417) chr1 208870616 208870616 T - het . 5 +intergenic PLXNA2(dist=453031),LINC01717(dist=31337) chr1 208870696 208870696 C T het . 11 +intergenic LINC01774(dist=41843),LINC01696(dist=308306) chr1 209190495 209190495 G C het . 2 +intergenic LINC01774(dist=41844),LINC01696(dist=308305) chr1 209190496 209190496 - TT het . 2 +intergenic LINC01774(dist=91644),LINC01696(dist=258505) chr1 209240296 209240296 C G het . 2 +intergenic LINC01774(dist=150491),LINC01696(dist=199658) chr1 209299143 209299143 T C het . 2 +intergenic LINC01774(dist=344710),LINC01696(dist=5433) chr1 209493362 209493368 GTTTTTG - het . 2 +ncRNA_exonic MIR205HG chr1 209605637 209605648 AGCAGCAGCAGC - het . 25 +intergenic MIR205HG(dist=65450),CAMK1G(dist=85703) chr1 209671342 209671342 G A het . 2 +splicing LAMB3(NM_001127641:exon22:c.3229-1G>T,NM_001017402:exon21:c.3229-1G>T,NM_000228:exon22:c.3229-1G>T) chr1 209789970 209789970 C A het . 34 +ncRNA_intronic LOC101930114 chr1 209905594 209905594 A C het . 5 +ncRNA_intronic LOC101930114 chr1 209911004 209911006 TTG - het . 4 +intronic SYT14 chr1 210139223 210139224 TT - het . 17 +intronic SYT14 chr1 210204005 210204005 C T het . 1 +intronic SYT14 chr1 210328813 210328813 G T het . 6 +UTR3 SYT14(NM_001256006:c.*279_*284delTTAATT,NM_001146264:c.*279_*284delTTAATT,NM_001146261:c.*279_*284delTTAATT,NM_001146262:c.*279_*284delTTAATT,NM_153262:c.*279_*284delTTAATT) chr1 210334666 210334671 TTAATT - het . 17 +UTR3 SYT14(NM_001256006:c.*347C>A,NM_001146264:c.*347C>A,NM_001146261:c.*347C>A,NM_001146262:c.*347C>A,NM_153262:c.*347C>A) chr1 210334734 210334734 C A het . 26 +UTR3 SYT14(NM_001256006:c.*641T>C,NM_001146264:c.*641T>C,NM_001146261:c.*641T>C,NM_001146262:c.*641T>C,NM_153262:c.*641T>C) chr1 210335028 210335028 T C het . 30 +intergenic SYT14(dist=8504),SERTAD4-AS1(dist=58667) chr1 210346137 210346137 A T het . 3 +intergenic SYT14(dist=31782),SERTAD4-AS1(dist=35389) chr1 210369415 210369415 C T het . 1 +intergenic SYT14(dist=52449),SERTAD4-AS1(dist=14722) chr1 210390082 210390082 T A het . 2 +intronic HHAT chr1 210560794 210560794 C A het . 15 +intronic HHAT chr1 210804319 210804319 T C het . 10 +downstream HHAT(dist=308) chr1 210849946 210849946 A G het . 1 +intronic KCNH1 chr1 210977562 210977562 G A het . 9 +intronic KCNH1 chr1 210997309 210997309 G - het . 2 +intronic KCNH1 chr1 210997311 210997312 TG - het . 2 +intergenic KCNH1(dist=39200),RCOR3(dist=85962) chr1 211346657 211346657 T C het . 2 +intergenic KCNH1(dist=62020),RCOR3(dist=63142) chr1 211369477 211369477 T G het . 2 +intergenic KCNH1(dist=62042),RCOR3(dist=63120) chr1 211369499 211369499 G A het . 2 +intronic TRAF5 chr1 211544483 211544483 C A het . 10 +intergenic RD3(dist=41799),SLC30A1(dist=40323) chr1 211708058 211708058 C T het . 1 +intronic NEK2 chr1 211832097 211832097 A - het . 6 +exonic LPGAT1 chr1 212002482 212002482 G A het . 30 +intronic DTL chr1 212217945 212217945 A - het . 9 +intronic DTL chr1 212217971 212217971 - TT het . 11 +intronic DTL chr1 212225343 212225343 T C het . 3 +intronic DTL chr1 212225379 212225379 G A het . 13 +intronic DTL chr1 212226082 212226082 A T het . 2 +intergenic DTL(dist=21720),LOC101929541(dist=86276) chr1 212300068 212300068 G T het . 1 +intronic PPP2R5A chr1 212482754 212482754 T C het . 27 +intronic PPP2R5A chr1 212482760 212482760 C T het . 26 +intronic PPP2R5A chr1 212506255 212506255 A T het . 2 +intronic ATF3 chr1 212791289 212791290 GT - het . 2 +UTR3 NSL1(NM_001297739:c.*49_*50insC,NM_001297737:c.*11574_*11575insC,NM_001297736:c.*11315_*11316insC,NM_015471:c.*11315_*11316insC,NM_001042549:c.*11604_*11605insC) chr1 212900434 212900434 - G het . 3 +intronic NSL1 chr1 212950109 212950109 T G het . 9 +UTR3 TATDN3(NM_001363589:c.*293T>G,NM_001146171:c.*160T>G,NM_001146170:c.*160T>G,NM_001146169:c.*249T>G,NM_001363590:c.*293T>G,NM_001042553:c.*160T>G,NM_001042552:c.*160T>G) chr1 212988658 212988658 T G het . 5 +intronic FLVCR1 chr1 213057078 213057078 A G het . 2 +intronic FLVCR1 chr1 213058852 213058852 T A het . 6 +intronic FLVCR1 chr1 213058871 213058871 C G het . 3 +intronic FLVCR1 chr1 213062017 213062017 - TTG het . 14 +intronic FLVCR1 chr1 213062067 213062067 T C het . 13 +UTR3 FLVCR1(NM_014053:c.*842_*843insT) chr1 213069474 213069474 - T het . 2 +intronic ANGEL2 chr1 213180442 213180443 AA - het . 9 +intergenic RPS6KC1(dist=53295),PROX1-AS1(dist=491572) chr1 213501412 213501412 T G het . 1 +intergenic RPS6KC1(dist=393228),PROX1-AS1(dist=151639) chr1 213841345 213841345 G A het . 4 +intergenic RPS6KC1(dist=400037),PROX1-AS1(dist=144830) chr1 213848154 213848154 A T het . 2 +intronic SMYD2 chr1 214478440 214478440 C A het . 5 +exonic PTPN14 chr1 214542819 214542819 T C het . 11 +intronic PTPN14 chr1 214551276 214551276 G A het . 13 +intronic PTPN14 chr1 214564442 214564442 C G het . 6 +intronic PTPN14 chr1 214564465 214564465 G A het . 5 +intronic PTPN14 chr1 214567014 214567014 G - het . 10 +intronic PTPN14 chr1 214575807 214575807 C T het . 1 +intronic PTPN14 chr1 214625321 214625321 G A het . 10 +intronic PTPN14 chr1 214656575 214656575 C T het . 31 +intronic PTPN14 chr1 214656607 214656610 TCTT - het . 27 +intergenic PTPN14(dist=8626),CENPF(dist=42882) chr1 214733650 214733650 C T het . 2 +intergenic PTPN14(dist=41009),CENPF(dist=10499) chr1 214766033 214766033 T C het . 1 +intergenic PTPN14(dist=46660),CENPF(dist=4848) chr1 214771684 214771684 G A het . 2 +intergenic PTPN14(dist=46689),CENPF(dist=4819) chr1 214771713 214771713 A G het . 2 +intronic CENPF chr1 214779147 214779147 T C het . 8 +exonic CENPF chr1 214814525 214814525 C A het . 20 +exonic CENPF chr1 214815132 214815132 C A het . 10 +exonic CENPF chr1 214818670 214818670 C A het . 30 +intronic KCNK2 chr1 215382049 215382049 T C het . 3 +intronic KCNK2 chr1 215390073 215390073 C T het . 1 +intronic KCNK2 chr1 215398566 215398566 G - het . 2 +intronic KCTD3 chr1 215749406 215749406 - T het . 16 +intronic KCTD3 chr1 215754199 215754199 T A het . 7 +intronic KCTD3 chr1 215768873 215768873 T - het . 9 +intronic USH2A chr1 215822331 215822331 G A het . 3 +intronic USH2A chr1 215853749 215853749 T - het . 14 +exonic USH2A chr1 215916563 215916563 G A het . 21 +exonic USH2A chr1 215916663 215916663 C T het . 15 +exonic USH2A chr1 216019349 216019349 C T het . 36 +intronic USH2A chr1 216019685 216019685 G C het . 3 +intronic USH2A chr1 216373489 216373489 C A het . 22 +intronic USH2A chr1 216495024 216495024 G A het . 10 +intronic USH2A chr1 216495187 216495187 T - het . 28 +intergenic USH2A(dist=7936),ESRRG(dist=71914) chr1 216604674 216604674 C A het . 2 +intronic ESRRG chr1 216830854 216830854 G A het . 2 +intronic ESRRG chr1 216842937 216842937 G - het . 3 +intronic ESRRG chr1 217013302 217013302 C G het . 2 +intronic ESRRG chr1 217013389 217013389 T A het . 3 +intronic ESRRG chr1 217106265 217106265 G T het . 4 +intronic ESRRG chr1 217164582 217164582 C T het . 2 +intronic GPATCH2 chr1 217722449 217722449 A C het . 3 +intronic GPATCH2 chr1 217722469 217722469 G C het . 1 +intronic GPATCH2 chr1 217722483 217722483 G T het . 1 +intronic GPATCH2 chr1 217775681 217775681 A T het . 1 +intronic SPATA17 chr1 217975057 217975057 C A het . 13 +intergenic LINC00210(dist=35238),LINC01653(dist=87463) chr1 218129384 218129384 C - het . 5 +intergenic LINC00210(dist=35240),LINC01653(dist=87453) chr1 218129386 218129394 TTTCTTTTC - het . 5 +intronic TGFB2 chr1 218554600 218554600 G T het . 2 +intronic TGFB2 chr1 218610663 218610663 T - het . 3 +ncRNA_intronic MIR548F3 chr1 218839914 218839914 - TTAT het . 2 +ncRNA_intronic MIR548F3 chr1 218847266 218847266 - A het . 2 +ncRNA_intronic MIR548F3 chr1 218960914 218960914 G A het . 3 +intronic LYPLAL1 chr1 219377957 219377957 C A het . 1 +intronic LYPLAL1 chr1 219383848 219383848 - CTTTTT het . 10 +exonic LYPLAL1 chr1 219383867 219383867 T C het . 11 +intergenic LYPLAL1(dist=103927),LOC102723886(dist=118366) chr1 219490134 219490134 G A het . 2 +ncRNA_intronic LOC102723886 chr1 219710566 219710566 T C het . 1 +intergenic ZC3H11B(dist=90300),RNU5F-1(dist=169832) chr1 219876787 219876787 C T het . 2 +intergenic ZC3H11B(dist=96046),RNU5F-1(dist=164086) chr1 219882533 219882533 G T het . 2 +intergenic ZC3H11B(dist=142074),RNU5F-1(dist=118058) chr1 219928561 219928561 T C het . 2 +intergenic ZC3H11B(dist=142112),RNU5F-1(dist=118017) chr1 219928599 219928602 TTAG - het . 3 +intergenic ZC3H11B(dist=214381),RNU5F-1(dist=45751) chr1 220000868 220000868 T - het . 2 +ncRNA_intronic RNU5F-1 chr1 220184151 220184151 A - het . 3 +ncRNA_intronic RNU5F-1 chr1 220184164 220184164 A G het . 3 +ncRNA_intronic RNU5F-1 chr1 220205704 220205704 T A het . 10 +ncRNA_intronic RNU5F-1 chr1 220231033 220231033 A G het . 18 +ncRNA_intronic RNU5F-1 chr1 220243002 220243002 A G het . 2 +intronic IARS2 chr1 220313672 220313672 G A het . 14 +intronic RAB3GAP2 chr1 220327509 220327509 C A het . 19 +intronic RAB3GAP2 chr1 220335488 220335488 G A het . 14 +intronic RAB3GAP2 chr1 220366773 220366774 AT - het . 17 +intronic RAB3GAP2 chr1 220366787 220366787 C T het . 14 +ncRNA_exonic SNORA36B chr1 220373980 220373980 G A het . 13 +exonic RAB3GAP2 chr1 220375675 220375675 C A het . 33 +intronic RAB3GAP2 chr1 220384659 220384659 G C het . 20 +intronic RAB3GAP2 chr1 220387075 220387075 G - het . 2 +intergenic RAB3GAP2(dist=44969),MARK1(dist=210713) chr1 220490812 220490812 G A het . 4 +intergenic RAB3GAP2(dist=110368),MARK1(dist=145314) chr1 220556211 220556211 G A het . 2 +intergenic RAB3GAP2(dist=157468),MARK1(dist=98211) chr1 220603311 220603314 GTGA - het . 4 +intronic MARK1 chr1 220789362 220789362 T A het . 16 +intronic MARK1 chr1 220805516 220805516 G A het . 7 +intronic MARC2 chr1 220955033 220955033 C A het . 17 +exonic MARC1 chr1 220970028 220970028 A G het . 6 +intergenic HLX(dist=189637),C1orf140(dist=255233) chr1 221248037 221248037 C T het . 2 +intergenic C1orf140(dist=105110),DUSP10(dist=260014) chr1 221614748 221614748 C G het . 2 +intergenic C1orf140(dist=267857),DUSP10(dist=97267) chr1 221777495 221777495 T A het . 2 +intergenic LINC01655(dist=32304),LINC02257(dist=40675) chr1 222046312 222046312 G T het . 2 +intergenic LINC01655(dist=38673),LINC02257(dist=34306) chr1 222052681 222052681 T C het . 2 +ncRNA_intronic LINC02257 chr1 222092113 222092113 A G het . 1 +ncRNA_intronic LINC02257 chr1 222095827 222095828 TT - het . 2 +intergenic LINC02474(dist=361789),HHIPL2(dist=175507) chr1 222520095 222520095 T G het . 3 +intronic HHIPL2 chr1 222705270 222705270 T C het . 3 +exonic TAF1A chr1 222732082 222732082 C A het . 26 +intronic TAF1A chr1 222736405 222736405 A G het . 3 +intronic TAF1A chr1 222741512 222741512 C T het . 2 +intronic MIA3 chr1 222791646 222791646 C T het . 4 +exonic MIA3 chr1 222801911 222801911 C T het . 20 +intronic MIA3 chr1 222823739 222823739 T - het . 13 +exonic FAM177B chr1 222919965 222919965 C A het . 15 +upstream DISP1(dist=172) chr1 222988251 222988251 - CGCCCGCCGCCCGC het . 3 +intronic DISP1 chr1 223156214 223156214 C T het . 3 +intronic DISP1 chr1 223165176 223165176 - T het . 14 +intergenic DISP1(dist=4097),TLR5(dist=99314) chr1 223183434 223183434 G T het . 2 +intronic SUSD4 chr1 223395611 223395611 T C het . 8 +exonic SUSD4 chr1 223465874 223465874 T C het . 36 +exonic CCDC185 chr1 223568054 223568054 G A het . 10 +intergenic CCDC185(dist=47581),CAPN8(dist=98579) chr1 223616393 223616393 C A het . 2 +intronic CAPN8 chr1 223715249 223715249 T - het . 19 +intronic CAPN8 chr1 223717379 223717379 A C het . 3 +intronic CAPN8 chr1 223722646 223722646 - A het . 14 +intronic CAPN8 chr1 223813441 223813441 C T het . 7 +intergenic CAPN8(dist=27972),CAPN2(dist=7887) chr1 223881408 223881408 T C het . 2 +exonic CAPN2 chr1 223900347 223900347 C A het . 14 +intronic CAPN2 chr1 223929170 223929170 - TT het . 2 +intronic TP53BP2 chr1 223988619 223988619 C A het . 10 +intronic TP53BP2 chr1 223990965 223990965 C T het . 5 +intergenic TP53BP2(dist=11188),GTF2IP20(dist=94106) chr1 224044862 224044862 C A het . 11 +intergenic TP53BP2(dist=69088),GTF2IP20(dist=36206) chr1 224102762 224102762 - T het . 5 +intergenic LOC100287497(dist=20930),FBXO28(dist=59298) chr1 224242491 224242491 A G het . 2 +intronic FBXO28 chr1 224318151 224318151 - TTG het . 12 +intronic FBXO28 chr1 224321220 224321220 C T het . 3 +intronic FBXO28 chr1 224321984 224321984 C T het . 7 +intergenic FBXO28(dist=5192),DEGS1(dist=15969) chr1 224354941 224354941 A - het . 2 +intronic NVL chr1 224418835 224418836 AA - het . 13 +intronic NVL chr1 224441451 224441451 G A het . 4 +intronic NVL chr1 224500881 224500881 A G het . 6 +intronic NVL chr1 224505570 224505570 - AA het . 21 +intergenic NVL(dist=17215),CNIH4(dist=9407) chr1 224535106 224535106 - TCTT het . 2 +intronic WDR26 chr1 224600910 224600910 C A het . 4 +intronic WDR26 chr1 224600920 224600920 C A het . 3 +intronic WDR26 chr1 224619015 224619015 A T het . 2 +intronic CNIH3 chr1 224628508 224628508 A T het . 2 +intergenic CNIH3(dist=53346),DNAH14(dist=135759) chr1 224981597 224981597 G A het . 2 +intronic DNAH14 chr1 225174041 225174041 G A het . 2 +intronic DNAH14 chr1 225185136 225185136 - TTTG het . 6 +intronic DNAH14 chr1 225203408 225203408 C A het . 2 +intronic DNAH14 chr1 225208247 225208247 T C het . 3 +UTR3 DNAH14(NM_001145154:c.*113G>A,NM_001349911:c.*113G>A) chr1 225211684 225211684 G A het . 11 +intronic DNAH14 chr1 225252881 225252881 T C het . 1 +intronic DNAH14 chr1 225261335 225261335 - TTG het . 3 +intronic DNAH14 chr1 225261359 225261359 A G het . 3 +intronic DNAH14 chr1 225311167 225311167 C A het . 10 +splicing DNAH14(NM_001373:exon27:c.4167-1G>T) chr1 225328432 225328432 G T het . 15 +exonic DNAH14 chr1 225328440 225328440 T G het . 16 +exonic DNAH14 chr1 225380562 225380565 AAAG - het . 23 +intronic DNAH14 chr1 225393588 225393588 C A het . 7 +intronic DNAH14 chr1 225477869 225477869 A G het . 7 +intronic DNAH14 chr1 225522205 225522205 A - het . 2 +exonic DNAH14 chr1 225533969 225533969 G A het . 19 +intronic DNAH14 chr1 225541308 225541308 A G het . 5 +intronic LBR chr1 225600383 225600383 A G het . 16 +intronic LBR chr1 225606099 225606099 A - het . 6 +UTR3 ENAH(NM_018212:c.*9597_*9596delinsAT,NM_001008493:c.*9597_*9596delinsAT) chr1 225675880 225675881 TA AT het . 2 +intronic ENAH chr1 225702144 225702144 C T het . 6 +intronic ENAH chr1 225707271 225707271 - A het . 7 +intronic ENAH chr1 225747281 225747281 A T het . 4 +intronic ENAH chr1 225767512 225767512 T C het . 2 +intronic ENAH chr1 225794280 225794280 C T het . 2 +intergenic ENAH(dist=12336),SRP9(dist=112334) chr1 225853181 225853181 T C het . 3 +intronic SRP9 chr1 225974486 225974486 - G het . 6 +intergenic SRP9(dist=13008),EPHX1(dist=6600) chr1 225991176 225991176 T G het . 5 +intronic TMEM63A chr1 226057352 226057352 - TTTCT het . 3 +UTR3 LEFTY1(NM_020997:c.*106G>A) chr1 226074321 226074321 C T het . 2 +exonic PYCR2 chr1 226108200 226108200 C T het . 2 +upstream SDE2(dist=63) chr1 226187129 226187129 C T het . 5 +intergenic SDE2(dist=1181),H3F3A(dist=62161) chr1 226188247 226188247 T A het . 1 +intergenic SDE2(dist=58650),H3F3A(dist=4692) chr1 226245716 226245716 A - het . 3 +intergenic LINC01703(dist=29762),ACBD3(dist=24628) chr1 226307752 226307752 - T het . 2 +intronic LIN9 chr1 226438485 226438488 CTCA - het . 24 +intronic PARP1 chr1 226556094 226556094 T C het . 14 +intronic PARP1 chr1 226567008 226567008 C G het . 22 +intergenic PARP1(dist=39408),STUM(dist=101292) chr1 226635209 226635209 T C het . 1 +intergenic PARP1(dist=122295),STUM(dist=18405) chr1 226718096 226718096 G C het . 2 +intronic PSEN2 chr1 227073410 227073410 G C het . 15 +exonic PSEN2 chr1 227076684 227076684 C A het . 18 +intronic CDC42BPA chr1 227218069 227218069 - AT het . 18 +intronic CDC42BPA chr1 227288655 227288655 G A het . 19 +splicing CDC42BPA(NM_003607:exon15:c.2249+1G>T,NM_014826:exon14:c.2006+1G>T) chr1 227288692 227288692 C A het . 30 +intronic CDC42BPA chr1 227330759 227330759 A G het . 4 +intronic CDC42BPA chr1 227381326 227381326 C T het . 2 +intronic CDC42BPA chr1 227452359 227452359 C T het . 1 +intergenic CDC42BPA(dist=92914),ZNF678(dist=152480) chr1 227598740 227598740 C T het . 3 +intergenic CDC42BPA(dist=118041),ZNF678(dist=127353) chr1 227623867 227623867 T A het . 2 +intergenic CDC42BPA(dist=118066),ZNF678(dist=127328) chr1 227623892 227623892 A C het . 1 +intronic ZNF678 chr1 227751602 227751602 C A het . 4 +intronic ZNF678 chr1 227834229 227834229 T - het . 12 +intronic ZNF678 chr1 227834234 227834234 C - het . 14 +UTR3 JMJD4(NM_023007:c.*32A>C,NM_001161465:c.*32A>C) chr1 227920061 227920061 T G het . 4 +exonic JMJD4 chr1 227920103 227920103 G A het . 6 +intergenic SNAP47(dist=18731),PRSS38(dist=15748) chr1 227987663 227987670 TCCTTCCT - het . 2 +exonic PRSS38 chr1 228003839 228003839 C T het . 12 +intergenic LOC107985355(dist=5792),WNT3A(dist=33310) chr1 228161413 228161413 T C het . 3 +intergenic LOC107985355(dist=5858),WNT3A(dist=33244) chr1 228161479 228161479 C T het . 21 +intergenic LOC107985355(dist=6152),WNT3A(dist=32950) chr1 228161773 228161773 C T het . 11 +exonic C1orf35 chr1 228288896 228288896 C T het . 17 +intergenic MRPL55(dist=6107),GUK1(dist=24665) chr1 228303120 228303120 G A het . 13 +intronic OBSCN chr1 228412106 228412106 T C het . 1 +exonic OBSCN chr1 228412227 228412228 TG CA het . 12 +intronic OBSCN chr1 228440867 228440870 TTTA - het . 2 +intronic OBSCN chr1 228445187 228445187 A G het . 2 +intronic OBSCN chr1 228446146 228446146 A G het . 1 +intronic OBSCN chr1 228525898 228525898 C G het . 5 +intronic RNF187 chr1 228680265 228680265 T C het . 3 +intergenic BTNL10(dist=20284),DUSP5P1(dist=60384) chr1 228720273 228720273 A C het . 3 +intergenic RHOU(dist=328532),MIR4454(dist=99482) chr1 229210948 229210948 C T het . 1 +intergenic MIR4454(dist=40873),LOC105373159(dist=41218) chr1 229351421 229351421 G T het . 2 +intergenic MIR4454(dist=75122),LOC105373159(dist=6968) chr1 229385670 229385671 TC - het . 30 +intergenic MIR4454(dist=75173),LOC105373159(dist=6915) chr1 229385721 229385724 CCTT - het . 25 +intergenic CCSAP(dist=50692),ACTA1(dist=37613) chr1 229529380 229529380 - A het . 3 +intergenic CCSAP(dist=55433),ACTA1(dist=32872) chr1 229534121 229534121 T C het . 2 +intronic ABCB10 chr1 229657220 229657220 - A het . 9 +exonic TAF5L chr1 229738236 229738236 G A het . 5 +intergenic LINC01682(dist=93505),LINC01736(dist=15304) chr1 230123160 230123160 G A het . 3 +intergenic LINC01736(dist=4013),GALNT2(dist=46614) chr1 230146922 230146922 A G het . 2 +intronic GALNT2 chr1 230338870 230338870 C A het . 3 +intronic GALNT2 chr1 230344323 230344323 G A het . 2 +intronic PGBD5 chr1 230485040 230485040 G A het . 2 +intronic PGBD5 chr1 230499026 230499026 A G het . 1 +intronic PGBD5 chr1 230513128 230513128 G A het . 8 +intronic COG2 chr1 230779335 230779335 - TTTTCTAT het . 1 +intronic CAPN9 chr1 230937295 230937296 TC - het . 24 +intronic TTC13 chr1 231052183 231052183 G T het . 7 +intronic FAM89A chr1 231160646 231160646 C T het . 2 +intronic LOC149373,TRIM67 chr1 231323140 231323140 T A het . 5 +intronic TRIM67 chr1 231344630 231344630 G T het . 3 +intronic C1orf131 chr1 231361374 231361374 C A het . 15 +intronic C1orf131 chr1 231365084 231365084 A - het . 8 +intergenic GNPAT(dist=44081),EXOC8(dist=10677) chr1 231457800 231457800 G T het . 3 +intronic SPRTN chr1 231480507 231480507 A G het . 16 +intronic SPRTN chr1 231480520 231480520 C A het . 17 +intergenic SPRTN(dist=5315),EGLN1(dist=3409) chr1 231496088 231496088 A G het . 1 +intronic EGLN1 chr1 231502243 231502245 AAT - het . 26 +intronic EGLN1 chr1 231502245 231502245 T - het . 23 +intronic EGLN1 chr1 231502245 231502245 T A het . 28 +ncRNA_intronic TSNAX-DISC1 chr1 231758353 231758353 G C het . 3 +ncRNA_intronic TSNAX-DISC1 chr1 231825074 231825074 T A het . 2 +ncRNA_intronic TSNAX-DISC1 chr1 231837505 231837505 C A het . 15 +ncRNA_intronic TSNAX-DISC1 chr1 231905291 231905291 G A het . 4 +ncRNA_intronic TSNAX-DISC1 chr1 231935661 231935661 C T het . 4 +ncRNA_intronic TSNAX-DISC1 chr1 231935694 231935694 T C het . 10 +ncRNA_intronic TSNAX-DISC1 chr1 231985728 231985728 T C het . 2 +ncRNA_intronic TSNAX-DISC1 chr1 232059053 232059053 C A het . 1 +ncRNA_intronic TSNAX-DISC1 chr1 232059065 232059065 C A het . 1 +exonic SIPA1L2 chr1 232574983 232574983 G A het . 9 +exonic SIPA1L2 chr1 232650867 232650867 C T het . 15 +exonic SIPA1L2 chr1 232650894 232650894 C T het . 12 +intergenic SIPA1L2(dist=30767),LINC01745(dist=171696) chr1 232682121 232682121 G A het . 1 +intergenic SIPA1L2(dist=96156),LINC01745(dist=106307) chr1 232747510 232747510 G A het . 6 +exonic MAP10 chr1 232942867 232942867 C A het . 19 +intergenic MAP10(dist=52445),NTPCR(dist=87740) chr1 232998537 232998537 G A het . 3 +intergenic MAP10(dist=103980),NTPCR(dist=36205) chr1 233050072 233050072 T C het . 2 +intronic NTPCR chr1 233091277 233091277 T - het . 12 +intronic PCNX2 chr1 233132976 233132976 C A het . 2 +intronic PCNX2 chr1 233183927 233183927 A G het . 2 +intronic PCNX2 chr1 233329815 233329816 AA - het . 2 +exonic PCNX2 chr1 233353799 233353799 C A het . 17 +intronic PCNX2 chr1 233354017 233354017 T C het . 6 +intronic MAP3K21 chr1 233489707 233489707 G T het . 3 +intronic MAP3K21 chr1 233490985 233490988 AGAG - het . 2 +intronic MAP3K21 chr1 233499460 233499460 G A het . 1 +exonic MAP3K21 chr1 233518394 233518394 C A het . 5 +intergenic MAP3K21(dist=23796),KCNK1(dist=205060) chr1 233544690 233544690 T C het . 1 +UTR5 KCNK1(NM_002245:c.-63A>G) chr1 233749855 233749855 A G het . 2 +UTR5 KCNK1(NM_002245:c.-22_-21insTTGGCTTTGGCT) chr1 233749896 233749896 - TTGGCTTTGGCT het . 4 +intronic KCNK1 chr1 233798018 233798020 CTC - het . 3 +intergenic KCNK1(dist=69833),SLC35F3(dist=162367) chr1 233878091 233878091 C T het . 2 +intronic SLC35F3 chr1 234068987 234068987 A T het . 2 +intronic SLC35F3 chr1 234068999 234068999 G T het . 2 +intronic SLC35F3 chr1 234325209 234325209 C A het . 2 +intronic SLC35F3 chr1 234359798 234359798 - TTTG het . 6 +exonic SLC35F3 chr1 234367347 234367347 C A het . 30 +intronic SLC35F3 chr1 234444762 234444762 A - het . 4 +intergenic SLC35F3(dist=32138),LOC101927765(dist=16150) chr1 234492402 234492403 TT - het . 4 +UTR5 COA6(NM_001301733:c.-133del-) chr1 234509859 234509859 T - het . 5 +UTR5 COA6(NM_001301733:c.-127T>G) chr1 234509865 234509865 T G het . 5 +intronic TARBP1 chr1 234527575 234527575 C T het . 14 +intronic TARBP1 chr1 234528373 234528373 C T het . 3 +intronic TARBP1 chr1 234528460 234528460 T - het . 2 +intronic TARBP1 chr1 234586504 234586504 T G het . 2 +intronic TARBP1 chr1 234586513 234586513 C T het . 1 +intronic TARBP1 chr1 234608326 234608326 C A het . 6 +intronic TARBP1 chr1 234611583 234611583 T C het . 2 +intergenic TARBP1(dist=16812),LINC01354(dist=31976) chr1 234631661 234631661 - TCTC het . 4 +exonic IRF2BP2 chr1 234745009 234745009 A G het . 5 +intergenic LOC101927787(dist=18991),LINC01132(dist=44128) chr1 234815661 234815661 T A het . 4 +intergenic LOC101927851(dist=69321),TOMM20(dist=103591) chr1 235169067 235169067 T A het . 2 +intergenic LOC101927851(dist=69338),TOMM20(dist=103574) chr1 235169084 235169084 T G het . 1 +intronic RBM34 chr1 235301390 235301390 T C het . 25 +intronic RBM34 chr1 235301497 235301498 AA - het . 15 +exonic ARID4B chr1 235345698 235345698 C A het . 23 +intronic ARID4B chr1 235409547 235409550 TAAG - het . 5 +intronic TBCE chr1 235565315 235565315 T C het . 2 +intronic TBCE chr1 235567606 235567608 ATT - het . 2 +intronic TBCE chr1 235601958 235601958 G T het . 11 +intronic TBCE chr1 235601990 235601990 C A het . 14 +exonic GNG4 chr1 235715523 235715523 A G het . 8 +intronic GNG4 chr1 235715556 235715556 C G het . 3 +intronic GNG4 chr1 235724710 235724710 A T het . 3 +intronic GNG4 chr1 235762600 235762600 C T het . 2 +intronic GNG4 chr1 235810748 235810748 A - het . 4 +intronic LYST chr1 235887276 235887276 G T het . 10 +intergenic LYST(dist=31628),NID1(dist=60496) chr1 236078636 236078636 G A het . 2 +intronic NID1 chr1 236204108 236204108 T C het . 2 +intronic NID1 chr1 236204110 236204110 C G het . 2 +intergenic NID1(dist=16444),GPR137B(dist=60907) chr1 236244925 236244925 G T het . 1 +intergenic NID1(dist=46654),GPR137B(dist=30697) chr1 236275135 236275135 C A het . 11 +intronic GPR137B chr1 236349343 236349343 G T het . 2 +intronic ERO1B chr1 236385071 236385071 - TTAATA het . 5 +intronic ERO1B chr1 236398938 236398938 C T het . 6 +intronic ERO1B chr1 236413446 236413446 C T het . 4 +intronic ERO1B chr1 236415444 236415444 G A het . 15 +intronic ERO1B chr1 236433136 236433136 T - het . 21 +intronic ERO1B chr1 236433163 236433163 T C het . 23 +intronic ERO1B chr1 236434855 236434855 G A het . 1 +intergenic ERO1B(dist=109096),EDARADD(dist=3245) chr1 236554435 236554435 T C het . 2 +intronic EDARADD chr1 236590629 236590629 C T het . 15 +intronic EDARADD chr1 236590659 236590659 G C het . 20 +intergenic EDARADD(dist=30033),LGALS8(dist=3473) chr1 236678041 236678041 G A het . 2 +intronic LGALS8 chr1 236701492 236701492 T C het . 1 +exonic LGALS8 chr1 236702209 236702210 CA TG het . 34 +intronic LGALS8 chr1 236702447 236702447 T G het . 6 +intronic LGALS8 chr1 236702450 236702450 T C het . 6 +intronic LGALS8 chr1 236702475 236702475 A G het . 3 +intronic LGALS8 chr1 236704888 236704888 - ACAGGT het . 12 +intronic LGALS8 chr1 236704892 236704894 AAA - het . 12 +intronic LGALS8 chr1 236704898 236704899 TT - het . 12 +intronic LGALS8 chr1 236708224 236708224 A C het . 10 +intronic LGALS8 chr1 236710313 236710313 - ATCA het . 2 +intronic LGALS8 chr1 236710326 236710326 G A het . 2 +splicing HEATR1(NM_018072:exon45:c.6347-2->T) chr1 236714292 236714292 - A het . 6 +UTR3 LGALS8(NM_201545:c.*2874C>T,NM_006499:c.*2874C>T,NM_201543:c.*2874C>T,NM_201544:c.*2874C>T) chr1 236714335 236714335 C T het . 12 +intronic HEATR1 chr1 236718524 236718524 G C het . 2 +intronic HEATR1 chr1 236729458 236729458 G C het . 3 +intronic HEATR1 chr1 236743236 236743238 AAC - het . 2 +intronic HEATR1 chr1 236745706 236745706 C T het . 2 +exonic HEATR1 chr1 236746443 236746443 C T het . 8 +intronic HEATR1 chr1 236749022 236749022 G A het . 15 +intronic HEATR1 chr1 236749026 236749026 T A het . 13 +intronic HEATR1 chr1 236749433 236749433 A C het . 7 +intronic HEATR1 chr1 236749452 236749452 A - het . 10 +intronic HEATR1 chr1 236767176 236767176 C G het . 9 +intronic HEATR1 chr1 236767179 236767179 G - het . 9 +intergenic HEATR1(dist=29116),ACTN2(dist=52797) chr1 236796957 236796957 A T het . 3 +intronic ACTN2 chr1 236854109 236854109 T C het . 2 +intronic ACTN2 chr1 236854111 236854111 G T het . 2 +intronic ACTN2 chr1 236900598 236900598 C T het . 13 +exonic ACTN2 chr1 236924427 236924427 C A het . 40 +UTR3 ACTN2(NM_001278344:c.*111A>G,NM_001278343:c.*111A>G,NM_001103:c.*111A>G) chr1 236926030 236926030 A G het . 3 +intronic MTR chr1 236978992 236978992 - TCTG het . 24 +exonic MTR chr1 236987512 236987512 C T het . 21 +intronic MTR chr1 237002877 237002877 A G het . 2 +intronic MTR chr1 237013915 237013917 TGA - het . 6 +intronic MTR chr1 237037999 237037999 T - het . 20 +intronic MTR chr1 237038008 237038009 TA - het . 21 +exonic MTR chr1 237058828 237058828 C T het . 7 +intronic RYR2 chr1 237238356 237238356 G A het . 2 +intronic RYR2 chr1 237285982 237285985 AAAC - het . 5 +intronic RYR2 chr1 237295207 237295207 G A het . 1 +intronic RYR2 chr1 237297310 237297310 G A het . 2 +intronic RYR2 chr1 237339415 237339415 T C het . 2 +intronic RYR2 chr1 237445099 237445099 T C het . 2 +intronic RYR2 chr1 237446446 237446446 C T het . 2 +intronic RYR2 chr1 237477258 237477259 TT - het . 2 +intronic RYR2 chr1 237527551 237527551 A G het . 11 +intronic RYR2 chr1 237527568 237527568 C A het . 11 +intronic RYR2 chr1 237669843 237669843 - A het . 3 +intronic RYR2 chr1 237675150 237675150 A G het . 2 +intronic RYR2 chr1 237685089 237685089 T C het . 1 +intronic RYR2 chr1 237693834 237693834 T A het . 19 +intronic RYR2 chr1 237709691 237709691 T G het . 3 +intronic RYR2 chr1 237731271 237731271 T G het . 1 +intronic RYR2 chr1 237732669 237732669 C A het . 13 +intronic RYR2 chr1 237772961 237772961 A G het . 3 +exonic RYR2 chr1 237777594 237777594 C A het . 16 +intronic RYR2 chr1 237794603 237794603 A G het . 2 +intronic RYR2 chr1 237862458 237862458 A G het . 4 +intronic RYR2 chr1 237905571 237905571 T - het . 12 +intronic RYR2 chr1 237924112 237924112 C A het . 1 +intronic RYR2 chr1 237993724 237993724 C T het . 6 +ncRNA_intronic LOC100130331 chr1 238040011 238040015 AAAAG - het . 3 +exonic ZP4 chr1 238053217 238053217 T C het . 18 +intergenic LOC100130331(dist=18729),LINC01139(dist=533336) chr1 238110348 238110348 G C het . 1 +intergenic LOC100130331(dist=118782),LINC01139(dist=433283) chr1 238210401 238210401 G C het . 1 +intergenic LOC100130331(dist=320478),LINC01139(dist=231587) chr1 238412097 238412097 G A het . 2 +intergenic LOC100130331(dist=432387),LINC01139(dist=119678) chr1 238524006 238524006 G A het . 2 +intergenic LOC100130331(dist=438596),LINC01139(dist=113469) chr1 238530215 238530215 T C het . 1 +intergenic LOC100130331(dist=446684),LINC01139(dist=105381) chr1 238538303 238538303 C T het . 2 +intergenic LINC01139(dist=361256),CHRM3(dist=539657) chr1 239010573 239010573 C T het . 1 +intergenic LINC01139(dist=554116),CHRM3(dist=346797) chr1 239203433 239203433 A G het . 1 +intronic CHRM3 chr1 239668560 239668562 GAT - het . 2 +downstream CHRM3(dist=292) chr1 240079041 240079041 G A het . 4 +intergenic CHRM3(dist=7314),RPS7P5(dist=84761) chr1 240086063 240086063 C T het . 1 +intergenic CHRM3(dist=7324),RPS7P5(dist=84751) chr1 240086073 240086073 C T het . 2 +intergenic CHRM3(dist=58765),RPS7P5(dist=33310) chr1 240137514 240137514 G A het . 9 +intronic FMN2 chr1 240580060 240580060 T - het . 2 +intronic RGS7 chr1 240963879 240963879 C A het . 7 +intronic RGS7 chr1 240971365 240971365 C T het . 1 +intronic RGS7 chr1 240977964 240977964 G T het . 31 +intronic RGS7 chr1 241083829 241083829 C A het . 26 +intronic RGS7 chr1 241146136 241146136 G A het . 9 +intronic RGS7 chr1 241426408 241426408 C T het . 2 +intronic KMO chr1 241744904 241744904 G A het . 2 +intronic WDR64 chr1 241932428 241932428 T A het . 2 +intronic WDR64 chr1 241933876 241933876 A G het . 3 +intergenic WDR64(dist=12367),EXO1(dist=33692) chr1 241977801 241977801 A G het . 2 +intergenic WDR64(dist=30212),EXO1(dist=15847) chr1 241995646 241995646 T G het . 20 +intergenic WDR64(dist=30226),EXO1(dist=15833) chr1 241995660 241995660 - TG het . 22 +intergenic WDR64(dist=30230),EXO1(dist=15828) chr1 241995664 241995665 CG - het . 22 +intergenic WDR64(dist=30242),EXO1(dist=15817) chr1 241995676 241995676 T G het . 22 +intergenic WDR64(dist=30266),EXO1(dist=15793) chr1 241995700 241995700 G T het . 18 +intergenic WDR64(dist=30275),EXO1(dist=15784) chr1 241995709 241995709 - T het . 16 +intergenic WDR64(dist=30277),EXO1(dist=15782) chr1 241995711 241995711 G A het . 16 +intronic EXO1 chr1 242020391 242020392 TC AT het . 3 +intronic EXO1 chr1 242023590 242023590 - T het . 4 +exonic EXO1 chr1 242023952 242023952 C A het . 31 +exonic EXO1 chr1 242023981 242023981 C A het . 29 +intronic EXO1 chr1 242036770 242036770 - T het . 2 +intronic EXO1 chr1 242041933 242041933 A G het . 8 +intronic EXO1 chr1 242048514 242048514 - TAAATAAA het . 7 +intronic EXO1 chr1 242049167 242049167 G T het . 2 +intronic EXO1 chr1 242052387 242052387 T A het . 1 +UTR3 EXO1(NM_130398:c.*129delT,NM_001319224:c.*129delT,NM_003686:c.*256delT,NM_006027:c.*129delT) chr1 242053031 242053031 T - het . 13 +UTR3 EXO1(NM_130398:c.*140A>G,NM_001319224:c.*140A>G,NM_003686:c.*267A>G,NM_006027:c.*140A>G) chr1 242053042 242053042 A G het . 14 +intergenic EXO1(dist=26131),BECN2(dist=41697) chr1 242079372 242079372 T C het . 8 +intergenic BECN2(dist=34365),MAP1LC3C(dist=2063) chr1 242156729 242156729 G A het . 2 +intergenic BECN2(dist=34370),MAP1LC3C(dist=2058) chr1 242156734 242156734 C T het . 2 +intergenic BECN2(dist=34669),MAP1LC3C(dist=1759) chr1 242157033 242157033 C T het . 4 +intergenic MAP1LC3C(dist=60958),PLD5(dist=28346) chr1 242223343 242223343 G A het . 9 +intergenic MAP1LC3C(dist=68160),PLD5(dist=21144) chr1 242230545 242230545 A G het . 2 +intronic PLD5 chr1 242264102 242264102 A G het . 17 +intronic PLD5 chr1 242307104 242307104 A C het . 1 +intronic PLD5 chr1 242356126 242356127 TC - het . 2 +intronic PLD5 chr1 242369945 242369945 G T het . 3 +intronic PLD5 chr1 242641126 242641126 A G het . 1 +intergenic PLD5(dist=252726),LINC01347(dist=278892) chr1 242940724 242940724 - TTTG het . 5 +intergenic PLD5(dist=308315),LINC01347(dist=223303) chr1 242996313 242996313 T C het . 2 +intergenic PLD5(dist=355169),LINC01347(dist=176449) chr1 243043167 243043167 T G het . 3 +intergenic PLD5(dist=432312),LINC01347(dist=99306) chr1 243120310 243120310 A C het . 2 +intergenic PLD5(dist=493146),LINC01347(dist=38470) chr1 243181144 243181146 TTT - het . 4 +intronic CEP170 chr1 243394455 243394455 - CAT het . 4 +exonic SDCCAG8 chr1 243449668 243449668 C T het . 38 +intronic AKT3,SDCCAG8 chr1 243662773 243662773 T C het . 4 +UTR3 AKT3(NM_005465:c.*1856_*1855delAG) chr1 243666695 243666696 CT - het . 1 +intronic AKT3 chr1 243752619 243752619 A G het . 2 +intronic AKT3 chr1 244004483 244004483 T - het . 2 +intergenic AKT3(dist=68365),LOC339529(dist=5453) chr1 244075251 244075251 C A het . 2 +ncRNA_intronic LOC339529 chr1 244150083 244150083 C T het . 1 +ncRNA_intronic LOC339529 chr1 244176424 244176424 G T het . 2 +intergenic ZBTB18(dist=159613),C1orf100(dist=135544) chr1 244380393 244380393 A C het . 2 +intergenic ZBTB18(dist=167642),C1orf100(dist=127515) chr1 244388422 244388422 C T het . 2 +intergenic ZBTB18(dist=199852),C1orf100(dist=95305) chr1 244420632 244420632 G A het . 3 +intergenic C1orf100(dist=16614),ADSS(dist=2792) chr1 244569002 244569002 T - het . 3 +intronic CATSPERE chr1 244697426 244697426 T A het . 1 +intronic CATSPERE chr1 244697434 244697434 A G het . 2 +intronic CATSPERE chr1 244773923 244773923 G T het . 4 +intronic CATSPERE chr1 244801722 244801722 C G het . 2 +intronic CATSPERE chr1 244803206 244803208 TTT - het . 12 +exonic HNRNPU chr1 245027349 245027349 C T het . 21 +intergenic HNRNPU(dist=35834),LOC101928068(dist=64845) chr1 245063661 245063661 A C het . 1 +intergenic HNRNPU(dist=69248),LOC101928068(dist=31427) chr1 245097075 245097079 AAAAG - het . 2 +ncRNA_intronic LOC101928068 chr1 245133623 245133623 - CCTCC het . 6 +intronic EFCAB2 chr1 245211973 245211973 C G het . 2 +intronic EFCAB2 chr1 245222839 245222839 G T het . 6 +intergenic EFCAB2(dist=20999),KIF26B(dist=8757) chr1 245309529 245309530 CG - het . 4 +intergenic EFCAB2(dist=21000),KIF26B(dist=8757) chr1 245309530 245309530 G - het . 3 +intronic KIF26B chr1 245319505 245319505 T C het . 1 +intronic KIF26B chr1 245328354 245328354 C T het . 3 +intronic KIF26B chr1 245639830 245639833 TTAC - het . 2 +intronic KIF26B chr1 245647987 245647987 T G het . 2 +intronic KIF26B chr1 245806987 245806987 G A het . 3 +intronic SMYD3 chr1 245988345 245988345 C A het . 2 +intronic SMYD3 chr1 246249188 246249188 A G het . 1 +intronic SMYD3 chr1 246282476 246282476 A C het . 2 +intronic SMYD3 chr1 246670333 246670333 A G het . 3 +exonic CNST chr1 246755023 246755023 C A het . 16 +intronic CNST chr1 246822622 246822622 T C het . 2 +intergenic SCCPDH(dist=8170),LINC01341(dist=13309) chr1 246939610 246939610 - TATT het . 9 +exonic AHCTF1 chr1 247007113 247007113 T C het . 8 +exonic AHCTF1 chr1 247014287 247014287 T C het . 30 +intronic AHCTF1 chr1 247021260 247021260 - TTC het . 2 +intronic AHCTF1 chr1 247081465 247081465 C A het . 6 +intergenic ZNF670-ZNF695(dist=10006),ZNF669(dist=11143) chr1 247252121 247252121 A C het . 1 +intergenic ZNF124(dist=27159),MIR3916(dist=2791) chr1 247362478 247362478 G C het . 2 +intergenic VN1R5(dist=16520),ZNF496(dist=23748) chr1 247436967 247436967 - G het . 2 +intergenic ZNF496(dist=49525),NLRP3(dist=34691) chr1 247544767 247544767 A G het . 3 +intronic NLRP3 chr1 247582464 247582466 ATA - het . 8 +intronic NLRP3 chr1 247582466 247582466 A - het . 8 +intronic NLRP3 chr1 247596527 247596527 G A het . 2 +exonic OR2W5 chr1 247655033 247655033 C A het . 18 +intergenic GCSAML(dist=6203),OR2G2(dist=4467) chr1 247747195 247747195 G A het . 2 +exonic OR2G2 chr1 247751666 247751666 G A het . 10 +downstream OR2G2(dist=36) chr1 247752651 247752651 T - het . 2 +intergenic OR2G3(dist=51145),OR13G1(dist=14458) chr1 247820962 247820962 C A het . 2 +intergenic OR2G3(dist=63055),OR13G1(dist=2548) chr1 247832872 247832872 A G het . 2 +intergenic OR13G1(dist=13130),OR6F1(dist=25658) chr1 247849473 247849473 - TT het . 2 +exonic OR6F1 chr1 247875395 247875395 G A het . 15 +exonic OR6F1 chr1 247875415 247875415 A G het . 17 +exonic OR14A16 chr1 247978542 247978544 AGG - het . 14 +intergenic OR14A16(dist=11901),OR11L1(dist=13298) chr1 247990932 247990932 G A het . 2 +intergenic TRIM58(dist=7086),OR2W3(dist=8365) chr1 248050524 248050524 - T het . 2 +intergenic TRIM58(dist=7108),OR2W3(dist=8343) chr1 248050546 248050546 T C het . 3 +upstream OR2W3(dist=44) chr1 248058845 248058845 A C het . 3 +upstream OR2W3(dist=10) chr1 248058879 248058879 A T het . 2 +exonic OR2AK2 chr1 248128637 248128637 A G het . 12 +exonic OR2L3 chr1 248224216 248224216 C T het . 19 +exonic OR2L3 chr1 248224227 248224227 T C het . 24 +intergenic OR2M4(dist=11794),OR2T33(dist=21194) chr1 248414960 248414960 A G het . 4 +intergenic OR2T33(dist=8586),OR2T12(dist=12216) chr1 248445702 248445702 T C het . 2 +intergenic OR2T33(dist=8594),OR2T12(dist=12208) chr1 248445710 248445710 T A het . 1 +intergenic OR2T33(dist=8598),OR2T12(dist=12204) chr1 248445714 248445714 A T het . 1 +exonic OR14C36 chr1 248512450 248512450 G A het . 12 +intergenic OR2T4(dist=13791),OR2T6(dist=11190) chr1 248539720 248539720 T C het . 2 +intergenic OR2T6(dist=15693),OR2T1(dist=1767) chr1 248567529 248567529 G C het . 1 +upstream OR2T1(dist=14) chr1 248569282 248569282 A G het . 10 +intergenic OR2T11(dist=2810),OR2T35(dist=8349) chr1 248793239 248793239 G T het . 2 +downstream OR2T27(dist=97) chr1 248813135 248813135 G A het . 5 +intergenic OR2T27(dist=2925),OR14I1(dist=27554) chr1 248817110 248817116 TTTTTAT - het . 1 +intergenic OR2T27(dist=26691),OR14I1(dist=3794) chr1 248840876 248840876 A - het . 1 +intergenic OR2T27(dist=26707),OR14I1(dist=3778) chr1 248840892 248840892 G A het . 1 +intronic ACP1 chr2 271999 271999 A - het . 7 +intergenic LINC01865(dist=12138),LINC01874(dist=141755) chr2 349192 349192 C T het . 3 +intergenic LOC105373352(dist=83719),TMEM18(dist=18067) chr2 645811 645811 - A het . 2 +ncRNA_intronic LINC01115 chr2 792464 792464 T C het . 3 +ncRNA_intronic LINC01115 chr2 843960 843960 G A het . 1 +intergenic LINC01939(dist=4830),LOC101060391(dist=39354) chr2 905967 905967 A G het . 8 +intronic SNTG2 chr2 1062590 1062590 C T het . 5 +intronic SNTG2 chr2 1155190 1155190 T C het . 1 +intronic TPO chr2 1457364 1457364 A G het . 12 +exonic TPO chr2 1459978 1459978 C A het . 36 +intronic TPO chr2 1545110 1545110 G A het . 1 +UTR3 TPO(NM_001206745:c.*81C>G,NM_175719:c.*81C>G,NM_001206744:c.*81C>G,NM_000547:c.*81C>G,NM_175722:c.*81C>G,NM_175721:c.*81C>G) chr2 1546327 1546327 C G het . 15 +intergenic TPO(dist=67596),PXDN(dist=21564) chr2 1614095 1614095 G A het . 2 +intronic PXDN chr2 1687653 1687653 T G het . 7 +intronic PXDN chr2 1724316 1724316 T C het . 2 +intronic MYT1L chr2 1844677 1844678 TT - het . 2 +intronic MYT1L chr2 1893862 1893862 G T het . 1 +intronic MYT1L chr2 2002283 2002283 A C het . 2 +intergenic MYT1L(dist=242679),LINC01250(dist=321056) chr2 2577764 2577764 G A het . 1 +intergenic MYT1L(dist=274139),LINC01250(dist=289596) chr2 2609224 2609224 T C het . 2 +intergenic MYT1L(dist=290158),LINC01250(dist=273577) chr2 2625243 2625243 G T het . 2 +intergenic MYT1L(dist=290163),LINC01250(dist=273572) chr2 2625248 2625248 A G het . 3 +intergenic MYT1L(dist=315046),LINC01250(dist=248689) chr2 2650131 2650131 G A het . 2 +intergenic MYT1L(dist=409065),LINC01250(dist=154670) chr2 2744150 2744150 G A het . 2 +intergenic MYT1L(dist=500249),LINC01250(dist=63486) chr2 2835334 2835334 T C het . 2 +intergenic MYT1L(dist=500271),LINC01250(dist=63462) chr2 2835356 2835358 TCT - het . 2 +ncRNA_intronic LINC01250 chr2 3021257 3021257 - A het . 3 +intronic EIPR1 chr2 3369720 3369768 GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCC - het . 2 +intronic TRAPPC12 chr2 3466609 3466609 C T het . 7 +intronic COLEC11 chr2 3660869 3660869 G A het . 19 +exonic COLEC11 chr2 3691324 3691324 C T het . 25 +intronic DCDC2C chr2 3815250 3815250 A G het . 4 +intergenic DCDC2C(dist=85305),LINC01304(dist=24940) chr2 3980305 3980305 G A het . 2 +intergenic LOC105373394(dist=221727),LINC01249(dist=431211) chr2 4244597 4244597 G C het . 2 +intergenic LOC105373394(dist=551394),LINC01249(dist=101544) chr2 4574264 4574264 - T het . 2 +intergenic LOC105373394(dist=551395),LINC01249(dist=101543) chr2 4574265 4574265 C T het . 2 +intergenic LOC105373394(dist=578606),LINC01249(dist=74332) chr2 4601476 4601476 A G het . 2 +intergenic LINC01249(dist=91515),LINC01248(dist=978946) chr2 4795327 4795327 A - het . 2 +intergenic LINC01249(dist=217984),LINC01248(dist=852477) chr2 4921796 4921796 A G het . 2 +intergenic LINC01249(dist=246411),LINC01248(dist=824050) chr2 4950223 4950223 - AT het . 1 +intergenic LINC01249(dist=724835),LINC01248(dist=345626) chr2 5428647 5428647 T C het . 2 +intergenic LINC01249(dist=816913),LINC01248(dist=253548) chr2 5520725 5520725 A - het . 2 +intergenic LINC01249(dist=954167),LINC01248(dist=116294) chr2 5657979 5657979 A G het . 2 +intergenic LINC01249(dist=960064),LINC01248(dist=110397) chr2 5663876 5663876 - C het . 2 +intergenic LINC01249(dist=960070),LINC01248(dist=110391) chr2 5663882 5663882 C A het . 2 +intergenic LINC01249(dist=1000722),LINC01248(dist=69739) chr2 5704534 5704534 C G het . 2 +intergenic SOX11(dist=55518),LINC01810(dist=53733) chr2 5897035 5897035 C T het . 2 +ncRNA_intronic LINC01105 chr2 6099273 6099274 GG AA het . 2 +intergenic LOC400940(dist=25856),LINC01247(dist=351922) chr2 6154220 6154220 T - het . 2 +intergenic LOC400940(dist=28812),LINC01247(dist=348966) chr2 6157176 6157176 C T het . 2 +intergenic LOC400940(dist=28822),LINC01247(dist=348956) chr2 6157186 6157186 T C het . 2 +intergenic LOC400940(dist=105347),LINC01247(dist=272431) chr2 6233711 6233711 T A het . 3 +intergenic LINC01247(dist=67221),LINC01246(dist=183466) chr2 6582775 6582775 C T het . 1 +intergenic LINC01246(dist=11255),MIR7515HG(dist=3146) chr2 6786093 6786093 C T het . 2 +intronic CMPK2 chr2 7001259 7001259 C A het . 4 +intronic RNF144A chr2 7107958 7107958 T C het . 1 +intronic RNF144A chr2 7147152 7147152 A T het . 1 +intronic RNF144A chr2 7154827 7154827 T - het . 14 +intronic RNF144A chr2 7195146 7195146 T G het . 3 +intronic RNF144A chr2 7195192 7195192 C A het . 3 +intergenic LOC101929452(dist=259703),LOC100506274(dist=83678) chr2 7477714 7477714 A T het . 2 +intergenic LOC101929452(dist=325018),LOC100506274(dist=18363) chr2 7543029 7543029 T C het . 2 +intergenic LOC101929452(dist=325026),LOC100506274(dist=18355) chr2 7543037 7543037 G C het . 2 +intergenic LOC100506274(dist=405133),LOC101929551(dist=31384) chr2 7995514 7995514 G A het . 2 +ncRNA_intronic LOC101929551 chr2 8039398 8039401 TTCC - het . 2 +ncRNA_intronic LOC101929551 chr2 8039425 8039425 C T het . 2 +intergenic LOC101929551(dist=1424),LINC00298(dist=21346) chr2 8041210 8041210 G A het . 1 +intergenic LOC101929551(dist=14631),LINC00298(dist=8139) chr2 8054417 8054417 C T het . 2 +ncRNA_intronic LINC00299 chr2 8178735 8178735 A G het . 13 +intergenic LINC00299(dist=33697),LINC01814(dist=197717) chr2 8502246 8502246 C T het . 1 +intergenic LINC00299(dist=43863),LINC01814(dist=187551) chr2 8512412 8512412 C G het . 2 +intergenic LINC01814(dist=19707),ID2-AS1(dist=67485) chr2 8743629 8743629 A - het . 2 +ncRNA_intronic ID2-AS1 chr2 8819144 8819146 CCA - het . 3 +intronic ID2 chr2 8822905 8822905 A C het . 7 +intronic ID2 chr2 8822912 8822912 A C het . 5 +intronic KIDINS220 chr2 8929311 8929311 T - het . 2 +intronic KIDINS220 chr2 8943291 8943291 G A het . 17 +intronic MBOAT2 chr2 9136008 9136008 T C het . 1 +intergenic MBOAT2(dist=32006),ASAP2(dist=171009) chr2 9175885 9175885 A - het . 2 +intergenic MBOAT2(dist=32020),ASAP2(dist=170995) chr2 9175899 9175899 A C het . 2 +intergenic MBOAT2(dist=195250),ASAP2(dist=7765) chr2 9339129 9339129 - ACAA het . 4 +intergenic MBOAT2(dist=199672),ASAP2(dist=3343) chr2 9343551 9343551 T - het . 2 +intronic ASAP2 chr2 9419411 9419411 G A het . 6 +intronic ASAP2 chr2 9419415 9419415 C T het . 7 +exonic ASAP2 chr2 9419447 9419447 C A het . 13 +intronic ASAP2 chr2 9484562 9484565 AAAA - het . 2 +intronic ITGB1BP1 chr2 9547171 9547171 G A het . 2 +intronic ITGB1BP1 chr2 9548396 9548396 C A het . 19 +intronic CPSF3 chr2 9583840 9583840 C A het . 18 +intronic CPSF3 chr2 9593028 9593028 T - het . 17 +intronic ADAM17 chr2 9662410 9662410 T C het . 3 +intronic ADAM17 chr2 9663295 9663295 C A het . 5 +intronic YWHAQ chr2 9747326 9747326 T - het . 4 +upstream TAF1B(dist=86) chr2 9983485 9983485 C A het . 3 +UTR5 TAF1B(NM_005680:c.-80_-79insG,NM_001318977:c.-39302_-39301insG,NM_001318976:c.-39302_-39301insG) chr2 9983591 9983591 - G het . 9 +intronic TAF1B chr2 9986098 9986098 C T het . 4 +intronic TAF1B chr2 9991556 9991556 G A het . 3 +intronic TAF1B chr2 10059097 10059097 A C het . 7 +intronic TAF1B chr2 10059337 10059337 T - het . 11 +intronic GRHL1 chr2 10133421 10133421 C A het . 24 +intergenic CYS1(dist=2057),RRM2(dist=40100) chr2 10222595 10222595 A - het . 3 +intergenic CYS1(dist=30663),RRM2(dist=11494) chr2 10251201 10251201 A T het . 4 +intronic RRM2 chr2 10263269 10263269 C T het . 5 +UTR3 RRM2(NM_001165931:c.*32delT,NM_001034:c.*32delT) chr2 10269545 10269545 T - het . 9 +intronic C2orf48 chr2 10291414 10291414 G C het . 1 +intergenic C2orf48(dist=35846),HPCAL1(dist=55328) chr2 10387702 10387702 A T het . 2 +intronic HPCAL1 chr2 10447993 10447993 A G het . 1 +intronic HPCAL1 chr2 10448001 10448001 G C het . 2 +intergenic LOC101929715(dist=85242),NOL10(dist=29972) chr2 10680920 10680920 G A het . 3 +intronic NOL10 chr2 10773471 10773471 C T het . 2 +intronic NOL10 chr2 10808776 10808776 - AA het . 24 +intergenic RN7SL832P(dist=13746),ATP6V1C2(dist=15808) chr2 10845967 10845967 G A het . 2 +intronic PDIA6 chr2 10928777 10928777 A C het . 12 +intronic PDIA6 chr2 10929602 10929602 T C het . 1 +intronic PDIA6 chr2 10930107 10930110 TTTT - het . 8 +intronic PQLC3 chr2 11300948 11300948 T A het . 3 +intronic PQLC3 chr2 11303199 11303199 G A het . 2 +intronic PQLC3 chr2 11303230 11303230 T C het . 2 +intronic ROCK2 chr2 11352035 11352035 T - het . 8 +intronic ROCK2 chr2 11397407 11397407 - G het . 8 +intronic ROCK2 chr2 11397883 11397883 T C het . 5 +ncRNA_intronic LINC00570 chr2 11541973 11541973 A T het . 2 +ncRNA_intronic LINC00570 chr2 11541975 11541975 A - het . 2 +intergenic LINC00570(dist=29612),E2F6(dist=11686) chr2 11572815 11572815 G A het . 1 +intronic GREB1 chr2 11716434 11716435 AA - het . 11 +intronic GREB1 chr2 11738765 11738765 C T het . 8 +exonic GREB1 chr2 11738820 11738820 C A het . 11 +intronic GREB1 chr2 11761309 11761309 T C het . 3 +exonic GREB1 chr2 11780436 11780436 C A het . 8 +intergenic MIR4262(dist=19708),MIR3681HG(dist=150422) chr2 11996820 11996820 G - het . 2 +intergenic MIR4262(dist=135834),MIR3681HG(dist=34296) chr2 12112946 12112946 T - het . 3 +ncRNA_intronic MIR3681HG chr2 12148220 12148220 C T het . 2 +ncRNA_intronic MIR3681HG chr2 12148225 12148225 T C het . 2 +ncRNA_intronic MIR3681HG chr2 12159417 12159417 C A het . 2 +ncRNA_intronic MIR3681HG chr2 12169144 12169144 - TTGT het . 2 +ncRNA_intronic MIR3681HG chr2 12283275 12283275 G C het . 2 +ncRNA_intronic MIR3681HG chr2 12604095 12604095 C T het . 2 +ncRNA_intronic MIR3681HG chr2 12606613 12606613 T - het . 2 +ncRNA_intronic MIR3681HG chr2 12640139 12640139 C T het . 2 +ncRNA_intronic MIR3681HG chr2 12652931 12652931 C T het . 3 +ncRNA_intronic MIR3681HG chr2 12716214 12716214 G A het . 2 +intergenic TRIB2(dist=166241),LOC100506474(dist=57809) chr2 13049099 13049099 T C het . 2 +intergenic TRIB2(dist=190517),LOC100506474(dist=33533) chr2 13073375 13073375 C A het . 2 +intergenic LOC100506474(dist=151305),LINC00276(dist=1070555) chr2 13298443 13298443 T C het . 2 +intergenic LOC100506474(dist=646513),LINC00276(dist=575347) chr2 13793651 13793651 G A het . 2 +intergenic LOC100506474(dist=667474),LINC00276(dist=554386) chr2 13814612 13814612 A G het . 2 +intergenic LOC100506474(dist=794685),LINC00276(dist=427175) chr2 13941823 13941823 C A het . 6 +intergenic LOC100506474(dist=809419),LINC00276(dist=412441) chr2 13956557 13956557 - GCTAAGATCGC het . 3 +ncRNA_intronic LINC00276 chr2 14516375 14516375 T - het . 4 +intergenic FAM84A(dist=250810),NBAS(dist=276054) chr2 15030978 15030978 C A het . 9 +intronic NBAS chr2 15372731 15372731 T G het . 4 +intronic NBAS chr2 15378822 15378822 - AATT het . 23 +intronic NBAS chr2 15417281 15417282 TT - het . 17 +intronic NBAS chr2 15417285 15417285 T A het . 17 +intronic NBAS chr2 15524648 15524648 A - het . 1 +intronic NBAS chr2 15533779 15533779 G A het . 21 +intronic NBAS chr2 15537641 15537641 T C het . 4 +intronic NBAS chr2 15538271 15538272 GG - het . 3 +intronic NBAS chr2 15538274 15538276 TTG - het . 3 +intronic NBAS chr2 15601574 15601574 C T het . 17 +intronic NBAS chr2 15607762 15607762 C A het . 24 +intronic NBAS chr2 15676457 15676457 A - het . 13 +intronic NBAS chr2 15691464 15691464 - A het . 6 +intronic NBAS chr2 15693988 15693999 CTCTCTCCCTCT - het . 11 +intronic DDX1 chr2 15739603 15739603 G T het . 2 +intronic DDX1 chr2 15744123 15744123 T G het . 5 +ncRNA_intronic LINC01804 chr2 15835961 15835961 C T het . 3 +ncRNA_intronic LINC01804 chr2 15837099 15837099 G A het . 1 +intergenic LINC01804(dist=118281),MYCNUT(dist=83155) chr2 15977366 15977366 G T het . 2 +intergenic GACAT3(dist=314210),FAM49A(dist=190709) chr2 16540021 16540021 T C het . 2 +intergenic GACAT3(dist=314244),FAM49A(dist=190675) chr2 16540055 16540055 C T het . 2 +intergenic GACAT3(dist=450658),FAM49A(dist=54261) chr2 16676469 16676469 G T het . 1 +intergenic FAM49A(dist=283047),RAD51AP2(dist=561670) chr2 17130181 17130181 - CAT het . 5 +intergenic FAM49A(dist=512591),RAD51AP2(dist=332126) chr2 17359725 17359725 G A het . 2 +intergenic FAM49A(dist=528652),RAD51AP2(dist=316065) chr2 17375786 17375786 G A het . 2 +intergenic FAM49A(dist=798117),RAD51AP2(dist=46600) chr2 17645251 17645251 C T het . 1 +intronic RAD51AP2 chr2 17695805 17695805 - C het . 9 +intronic SMC6 chr2 17883218 17883218 T - het . 19 +intronic SMC6 chr2 17883218 17883218 T A het . 23 +intronic SMC6 chr2 17904290 17904290 G A het . 2 +intronic GEN1 chr2 17954202 17954202 C T het . 4 +intronic GEN1 chr2 17959405 17959405 - TA het . 13 +intergenic MSGN1(dist=39918),KCNS3(dist=20128) chr2 18038983 18038986 TTTC - het . 2 +intergenic KCNS3(dist=47688),NT5C1B-RDH14(dist=574076) chr2 18161913 18161913 C A het . 2 +intergenic KCNS3(dist=307292),NT5C1B-RDH14(dist=314469) chr2 18421517 18421520 TTTG - het . 2 +intergenic KCNS3(dist=464628),NT5C1B-RDH14(dist=157136) chr2 18578853 18578853 C T het . 2 +intronic NT5C1B,NT5C1B-RDH14 chr2 18757967 18757967 T C het . 2 +intergenic NT5C1B-RDH14(dist=125911),LINC01376(dist=270972) chr2 18896757 18896757 T A het . 1 +intergenic NT5C1B-RDH14(dist=354666),LINC01376(dist=42217) chr2 19125512 19125512 G T het . 3 +intergenic LINC01376(dist=68844),MIR4757(dist=252620) chr2 19295570 19295570 A C het . 1 +intergenic LINC01376(dist=203877),MIR4757(dist=117587) chr2 19430603 19430603 T G het . 1 +intergenic LINC01376(dist=234798),MIR4757(dist=86666) chr2 19461524 19461524 C T het . 2 +intergenic OSR1(dist=147930),LINC00954(dist=362313) chr2 19706302 19706302 G A het . 2 +intergenic OSR1(dist=157525),LINC00954(dist=352718) chr2 19715897 19715897 A G het . 2 +intergenic OSR1(dist=166967),LINC00954(dist=343276) chr2 19725339 19725339 A - het . 2 +intergenic OSR1(dist=467602),LINC00954(dist=42641) chr2 20025974 20025974 G T het . 1 +intergenic OSR1(dist=467606),LINC00954(dist=42637) chr2 20025978 20025978 T C het . 2 +intergenic OSR1(dist=469291),LINC00954(dist=40952) chr2 20027663 20027663 A G het . 1 +intronic TTC32 chr2 20097874 20097874 T C het . 5 +intergenic TTC32(dist=3367),WDR35(dist=4915) chr2 20105114 20105114 A - het . 2 +intronic WDR35 chr2 20119160 20119160 G A het . 2 +exonic SDC1 chr2 20403919 20403919 C T het . 10 +intergenic PUM2(dist=2141),RHOB(dist=92502) chr2 20554330 20554330 - AAC het . 6 +intergenic PUM2(dist=32368),RHOB(dist=62275) chr2 20584557 20584557 G T het . 1 +intergenic PUM2(dist=56838),RHOB(dist=37805) chr2 20609027 20609027 T C het . 1 +exonic HS1BP3 chr2 20818764 20818764 C T het . 4 +intronic HS1BP3 chr2 20827425 20827425 A G het . 1 +intergenic LDAH(dist=172189),APOB(dist=29222) chr2 21195079 21195079 G A het . 2 +intergenic LDAH(dist=194600),APOB(dist=6811) chr2 21217490 21217490 C T het . 1 +intronic APOB chr2 21226219 21226219 A - het . 23 +exonic APOB chr2 21250810 21250810 C A het . 41 +exonic APOB chr2 21266775 21266783 GCAGCGCCA - het . 9 +intergenic APOB(dist=31439),TDRD15(dist=48474) chr2 21298384 21298384 T A het . 2 +intergenic APOB(dist=72987),TDRD15(dist=6926) chr2 21339932 21339932 G A het . 1 +intergenic TDRD15(dist=17911),LINC01822(dist=525157) chr2 21385149 21385149 T C het . 2 +intergenic TDRD15(dist=17923),LINC01822(dist=525145) chr2 21385161 21385161 C G het . 1 +intergenic TDRD15(dist=23728),LINC01822(dist=519340) chr2 21390966 21390966 T G het . 1 +intergenic TDRD15(dist=23730),LINC01822(dist=519336) chr2 21390968 21390970 TTT - het . 2 +intergenic TDRD15(dist=23754),LINC01822(dist=519314) chr2 21390992 21390992 G A het . 2 +intergenic TDRD15(dist=24293),LINC01822(dist=518775) chr2 21391531 21391531 G A het . 2 +intergenic TDRD15(dist=28763),LINC01822(dist=514305) chr2 21396001 21396001 C A het . 1 +intergenic TDRD15(dist=241919),LINC01822(dist=301149) chr2 21609157 21609157 T C het . 1 +intergenic TDRD15(dist=422340),LINC01822(dist=120728) chr2 21789578 21789578 - A het . 3 +intergenic TDRD15(dist=422350),LINC01822(dist=120718) chr2 21789588 21789588 G A het . 3 +intergenic TDRD15(dist=422354),LINC01822(dist=120714) chr2 21789592 21789592 C A het . 3 +intergenic TDRD15(dist=425474),LINC01822(dist=117594) chr2 21792712 21792712 T C het . 1 +intergenic TDRD15(dist=477394),LINC01822(dist=65674) chr2 21844632 21844632 T - het . 3 +intergenic LINC01822(dist=679215),LINC01884(dist=146612) chr2 22612739 22612739 C A het . 2 +intergenic LINC01884(dist=5570),KLHL29(dist=841569) chr2 22766729 22766729 A G het . 2 +downstream KLHL29(dist=442) chr2 23931925 23931925 A T het . 2 +exonic SF3B6 chr2 24291323 24291323 G A het . 14 +intronic FAM228B chr2 24358836 24358836 A G het . 3 +exonic FAM228A chr2 24398359 24398359 A T het . 28 +intronic FAM228A chr2 24402127 24402127 - AA het . 12 +intronic ITSN2 chr2 24521766 24521766 C T het . 7 +intergenic ITSN2(dist=36486),NCOA1(dist=94240) chr2 24619883 24619883 A G het . 3 +intronic NCOA1 chr2 24922435 24922435 G A het . 2 +intronic ADCY3 chr2 25100738 25100738 C A het . 5 +ncRNA_intronic DNAJC27-AS1 chr2 25201471 25201471 G T het . 1 +ncRNA_intronic DNAJC27-AS1 chr2 25218054 25218054 T G het . 2 +intronic EFR3B chr2 25302690 25302690 - AAG het . 9 +intergenic POMC(dist=20650),LINC01381(dist=14810) chr2 25412370 25412372 AAT - het . 2 +upstream LINC01381(dist=256) chr2 25426926 25426926 - A het . 2 +intronic DTNB chr2 25872652 25872652 T C het . 2 +exonic ASXL2 chr2 25966129 25966129 C A het . 24 +intergenic KIF3C(dist=16491),RAB10(dist=34795) chr2 26221934 26221934 C T het . 2 +intergenic KIF3C(dist=16499),RAB10(dist=34787) chr2 26221942 26221942 T C het . 1 +upstream RAB10(dist=738) chr2 26255991 26255991 A G het . 1 +intronic RAB10 chr2 26298369 26298370 TG - het . 2 +intergenic RAB10(dist=1564),GAREM2(dist=34073) chr2 26361887 26361887 C A het . 2 +exonic HADHA chr2 26414377 26414377 C A het . 30 +intronic HADHA chr2 26448830 26448830 T A het . 2 +intronic HADHA chr2 26457328 26457328 G A het . 7 +exonic HADHB chr2 26477125 26477125 - ACT het . 43 +intronic HADHB chr2 26486184 26486184 G T het . 6 +intronic ADGRF3 chr2 26532735 26532735 G A het . 3 +exonic ADGRF3 chr2 26534861 26534861 C A het . 11 +exonic ADGRF3 chr2 26534901 26534901 G T het . 5 +exonic ADGRF3 chr2 26534922 26534922 G T het . 6 +intronic ADGRF3 chr2 26553745 26553745 C T het . 1 +intronic SELENOI chr2 26611667 26611667 T C het . 2 +UTR3 SELENOI(NM_033505:c.*5238A>G) chr2 26617209 26617209 A G het . 2 +intronic DRC1 chr2 26655473 26655473 - AAAG het . 4 +intronic DRC1 chr2 26663214 26663215 TA - het . 13 +intronic DRC1 chr2 26677688 26677688 T G het . 2 +exonic OTOF chr2 26683586 26683586 C T het . 27 +exonic OTOF chr2 26693554 26693556 CTT - het . 21 +intronic OTOF chr2 26739247 26739247 T A het . 4 +intronic OTOF chr2 26750645 26750645 G A het . 9 +exonic C2orf70 chr2 26802174 26802174 C A het . 12 +intronic KCNK3 chr2 26941651 26941651 T - het . 3 +exonic KCNK3 chr2 26950755 26950755 C A het . 8 +intronic CENPA chr2 27015903 27015903 T C het . 3 +intergenic CENPA(dist=11033),DPYSL5(dist=42481) chr2 27028488 27028488 C G het . 2 +intronic DPYSL5 chr2 27121650 27121650 G A het . 6 +intronic DPYSL5 chr2 27163044 27163044 T C het . 5 +intergenic TCF23(dist=40883),SLC5A6(dist=5753) chr2 27416702 27416702 A T het . 1 +intronic SLC5A6 chr2 27426878 27426878 C T het . 1 +exonic CAD chr2 27440785 27440785 C T het . 3 +intronic MPV17 chr2 27535311 27535311 - G het . 34 +intronic EIF2B4 chr2 27587923 27587923 T - het . 8 +intronic IFT172 chr2 27688540 27688540 A C het . 5 +intronic IFT172 chr2 27688545 27688545 A C het . 6 +UTR3 FNDC4(NM_022823:c.*103A>T) chr2 27715207 27715207 T A het . 9 +intronic GCKR chr2 27729480 27729480 G A het . 14 +exonic C2orf16 chr2 27802509 27802509 C A het . 18 +exonic C2orf16 chr2 27802526 27802526 G A het . 21 +exonic C2orf16 chr2 27804432 27804432 T C het . 30 +exonic CCDC121 chr2 27849929 27849930 TC - het . 9 +intronic GPN1 chr2 27855397 27855397 A T het . 11 +intronic SLC4A1AP chr2 27892023 27892023 A T het . 6 +intronic RBKS chr2 28068934 28068934 C A het . 2 +intronic BABAM2 chr2 28362208 28362208 - AAAAG het . 2 +ncRNA_intronic LOC100505736 chr2 28402298 28402298 G A het . 1 +intronic BABAM2 chr2 28471080 28471080 T C het . 1 +intergenic BABAM2(dist=26853),FLJ31356(dist=18656) chr2 28588620 28588620 A G het . 2 +intergenic FOSL2(dist=24748),PLB1(dist=56674) chr2 28662264 28662264 G A het . 2 +exonic PLB1 chr2 28796165 28796165 C T het . 22 +intronic PLB1 chr2 28804836 28804836 A - het . 5 +intronic PLB1 chr2 28824837 28824837 T G het . 12 +intronic PLB1 chr2 28855918 28855918 - G het . 15 +intronic PPP1CB chr2 28975107 28975107 G C het . 3 +intronic PPP1CB chr2 29004923 29004923 G A het . 15 +intronic PPP1CB chr2 29006624 29006624 A - het . 10 +intronic PPP1CB chr2 29014191 29014191 G T het . 2 +intronic SPDYA chr2 29052256 29052256 T C het . 6 +intronic SPDYA chr2 29052283 29052283 - T het . 5 +intronic WDR43 chr2 29152376 29152376 A - het . 5 +intronic WDR43 chr2 29161010 29161010 G A het . 5 +intronic WDR43 chr2 29161763 29161763 A G het . 3 +intronic TOGARAM2 chr2 29240005 29240005 T C het . 6 +exonic TOGARAM2 chr2 29240040 29240040 G C het . 5 +intergenic PCARE(dist=14688),CLIP4(dist=8727) chr2 29311815 29311815 T C het . 3 +intronic CLIP4 chr2 29349617 29349617 A T het . 2 +intronic CLIP4 chr2 29366875 29366875 - ACAG het . 5 +intronic CLIP4 chr2 29375828 29375828 T C het . 5 +intronic CLIP4 chr2 29375840 29375840 C A het . 3 +exonic ALK chr2 29416615 29416615 G A het . 6 +intronic ALK chr2 29519622 29519622 C T het . 4 +intronic ALK chr2 29722599 29722599 C T het . 2 +intronic ALK chr2 29754378 29754378 A G het . 3 +intronic ALK chr2 29926519 29926519 T C het . 2 +intronic ALK chr2 29926552 29926552 A G het . 2 +intronic ALK chr2 29981696 29981696 G C het . 1 +intronic ALK chr2 30006970 30006970 G A het . 2 +intronic ALK chr2 30125593 30125593 T C het . 2 +intergenic ALK(dist=94877),YPEL5(dist=130396) chr2 30239354 30239354 G T het . 6 +intronic YPEL5 chr2 30379448 30379448 C A het . 8 +intergenic YPEL5(dist=9222),SNORA10B(dist=17679) chr2 30392621 30392621 - T het . 3 +intergenic LINC01936(dist=91212),LCLAT1(dist=5856) chr2 30664236 30664236 T - het . 4 +intronic LCLAT1 chr2 30682360 30682360 G A het . 3 +intergenic LCLAT1(dist=57759),CAPN13(dist=20788) chr2 30924850 30924850 G T het . 2 +exonic CAPN13 chr2 31010102 31010102 G A het . 16 +intronic CAPN14 chr2 31414297 31414298 AA - het . 13 +intronic CAPN14 chr2 31414325 31414325 T G het . 12 +intronic EHD3 chr2 31484334 31484334 G A het . 2 +intergenic EHD3(dist=23217),XDH(dist=42711) chr2 31514477 31514477 - A het . 7 +intergenic EHD3(dist=23225),XDH(dist=42703) chr2 31514485 31514485 T A het . 7 +intronic XDH chr2 31569471 31569471 A G het . 3 +intronic XDH chr2 31588664 31588664 C T het . 2 +exonic XDH chr2 31609349 31609349 G A het . 24 +intronic XDH chr2 31628955 31628955 C G het . 7 +intergenic XDH(dist=89913),SRD5A2(dist=22132) chr2 31727524 31727524 A T het . 2 +intergenic SRD5A2(dist=199082),LINC01946(dist=13760) chr2 32005122 32005130 AAAAAAAAG - het . 3 +intergenic LINC01946(dist=26512),MEMO1(dist=37318) chr2 32055561 32055561 - TTTT het . 3 +intergenic LINC01946(dist=26537),MEMO1(dist=37293) chr2 32055586 32055586 C T het . 4 +intronic MEMO1 chr2 32168462 32168462 G C het . 17 +intronic SLC30A6 chr2 32398110 32398110 A G het . 2 +intronic SLC30A6 chr2 32427093 32427093 A - het . 10 +intronic SLC30A6 chr2 32429288 32429288 T C het . 2 +intronic NLRC4 chr2 32449872 32449875 TTTT - het . 9 +intronic NLRC4 chr2 32449879 32449879 - AAA het . 9 +intronic NLRC4 chr2 32460348 32460348 A G het . 4 +intronic NLRC4 chr2 32461493 32461493 - C het . 11 +intronic NLRC4 chr2 32481794 32481794 T - het . 8 +intronic NLRC4 chr2 32481795 32481795 T A het . 8 +intronic BIRC6 chr2 32706927 32706927 A T het . 2 +intronic BIRC6 chr2 32706929 32706929 T A het . 2 +intronic BIRC6 chr2 32716452 32716452 T A het . 12 +exonic BIRC6 chr2 32724715 32724715 C G het . 21 +exonic BIRC6 chr2 32733295 32733295 C A het . 14 +intronic BIRC6 chr2 32770668 32770668 T C het . 18 +exonic BIRC6 chr2 32774505 32774505 C T het . 8 +exonic BIRC6 chr2 32819010 32819010 G A het . 14 +intronic BIRC6 chr2 32832732 32832732 A C het . 11 +intronic TTC27 chr2 32855568 32855568 G A het . 16 +intronic TTC27 chr2 32867761 32867761 C G het . 2 +intronic TTC27 chr2 33007681 33007681 C A het . 25 +intronic TTC27 chr2 33007992 33007992 T G het . 5 +intronic LTBP1 chr2 33273016 33273016 T C het . 2 +intronic LTBP1 chr2 33300146 33300146 T C het . 1 +intronic LTBP1 chr2 33327565 33327565 C A het . 3 +intronic LTBP1 chr2 33327574 33327574 G C het . 3 +intronic LTBP1 chr2 33453763 33453763 C T het . 2 +intronic LTBP1 chr2 33528419 33528419 - TT het . 2 +intronic LTBP1 chr2 33528436 33528436 G T het . 2 +intronic LTBP1 chr2 33548696 33548696 - AAAC het . 4 +intronic LTBP1 chr2 33614187 33614187 C T het . 3 +intronic LTBP1 chr2 33622448 33622448 T C het . 6 +intronic LTBP1 chr2 33622475 33622475 T C het . 5 +intronic LTBP1 chr2 33623387 33623388 AT GC het . 6 +intronic RASGRP3 chr2 33675889 33675889 C T het . 5 +intronic RASGRP3 chr2 33752130 33752130 C - het . 4 +ncRNA_intronic LINC01317 chr2 33977111 33977111 G C het . 1 +ncRNA_intronic LINC01317 chr2 34001569 34001569 G A het . 2 +ncRNA_intronic LINC01317 chr2 34001571 34001571 G A het . 2 +ncRNA_intronic LINC01317 chr2 34017652 34017652 C A het . 2 +ncRNA_intronic LINC01317 chr2 34044557 34044557 A G het . 1 +ncRNA_intronic LINC01317 chr2 34044565 34044565 A G het . 2 +ncRNA_intronic LINC01317 chr2 34222246 34222246 G T het . 1 +ncRNA_intronic LINC01317 chr2 34253277 34253277 A C het . 2 +ncRNA_intronic LINC01317 chr2 34279720 34279720 T A het . 2 +ncRNA_intronic LINC01317 chr2 34339763 34339763 T C het . 2 +ncRNA_intronic LINC01317 chr2 34400673 34400673 A C het . 2 +ncRNA_intronic LINC01317 chr2 34442052 34442052 C G het . 2 +ncRNA_intronic LINC01317 chr2 34458232 34458232 G C het . 1 +ncRNA_intronic LINC01317 chr2 34501593 34501593 G A het . 2 +ncRNA_intronic LINC01317 chr2 34507891 34507891 C T het . 1 +ncRNA_intronic LINC01317 chr2 34507897 34507897 T A het . 1 +intergenic LINC01317(dist=30615),LINC01320(dist=349196) chr2 34553428 34553428 C T het . 3 +intergenic LINC01317(dist=120662),LINC01320(dist=259149) chr2 34643475 34643475 G A het . 3 +intergenic LINC01317(dist=219946),LINC01320(dist=159865) chr2 34742759 34742759 - AAAC het . 4 +intergenic LINC01317(dist=292100),LINC01320(dist=87711) chr2 34814913 34814913 - T het . 3 +intergenic LINC01317(dist=299177),LINC01320(dist=80634) chr2 34821990 34821990 C A het . 2 +intergenic LINC01317(dist=299737),LINC01320(dist=80074) chr2 34822550 34822550 G T het . 2 +intergenic LINC01317(dist=344012),LINC01320(dist=35799) chr2 34866825 34866825 G A het . 2 +intergenic LINC01320(dist=77823),MIR548AD(dist=671018) chr2 35025453 35025453 A - het . 2 +intergenic LINC01320(dist=437721),MIR548AD(dist=311120) chr2 35385351 35385351 A G het . 2 +intergenic LINC01320(dist=621040),MIR548AD(dist=127801) chr2 35568670 35568670 T A het . 2 +intergenic MIR548AD(dist=264446),LOC100288911(dist=620894) chr2 35960998 35960998 C A het . 2 +intergenic MIR548AD(dist=384164),LOC100288911(dist=501176) chr2 36080716 36080716 G C het . 2 +intergenic MIR548AD(dist=435980),LOC100288911(dist=449360) chr2 36132532 36132532 T C het . 1 +intergenic MIR548AD(dist=584250),LOC100288911(dist=301090) chr2 36280802 36280802 A C het . 1 +intronic CRIM1 chr2 36750005 36750005 C A het . 2 +exonic FEZ2 chr2 36785616 36785616 G C het . 25 +intronic FEZ2 chr2 36794288 36794288 T G het . 3 +intronic FEZ2 chr2 36794300 36794300 G T het . 2 +intronic FEZ2 chr2 36794316 36794316 C T het . 2 +exonic FEZ2 chr2 36818109 36818109 T C het . 12 +intergenic FEZ2(dist=25747),VIT(dist=72754) chr2 36851079 36851079 A G het . 1 +intergenic FEZ2(dist=38510),VIT(dist=59991) chr2 36863842 36863842 G T het . 2 +intronic VIT chr2 36931163 36931163 T G het . 1 +intronic VIT chr2 36933453 36933453 G A het . 2 +intronic VIT chr2 36987058 36987058 A C het . 2 +intronic STRN chr2 37088083 37088083 C T het . 2 +intronic STRN chr2 37101085 37101085 A - het . 2 +intronic GPATCH11 chr2 37322913 37322913 A G het . 4 +intronic SULT6B1 chr2 37410357 37410357 T C het . 2 +intronic CEBPZ chr2 37435119 37435119 G A het . 3 +intronic CEBPZ chr2 37440882 37440882 T G het . 6 +intronic CEBPZ chr2 37458543 37458543 C A het . 9 +intronic PRKD3 chr2 37483772 37483772 T A het . 9 +intronic PRKD3 chr2 37495434 37495434 C A het . 14 +exonic PRKD3 chr2 37516543 37516543 G A het . 23 +intergenic CDC42EP3(dist=59130),LINC00211(dist=94582) chr2 37958808 37958808 G C het . 1 +intergenic CDC42EP3(dist=59135),LINC00211(dist=94577) chr2 37958813 37958813 T G het . 1 +intergenic CDC42EP3(dist=74758),LINC00211(dist=78954) chr2 37974436 37974436 T C het . 1 +intergenic CDC42EP3(dist=74767),LINC00211(dist=78945) chr2 37974445 37974445 G C het . 1 +intergenic CDC42EP3(dist=85265),LINC00211(dist=68447) chr2 37984943 37984943 A T het . 1 +intergenic CDC42EP3(dist=90850),LINC00211(dist=62862) chr2 37990528 37990528 C T het . 2 +intergenic CDC42EP3(dist=90852),LINC00211(dist=62860) chr2 37990530 37990530 G A het . 2 +ncRNA_intronic LINC00211 chr2 38065069 38065069 G T het . 1 +ncRNA_intronic LINC00211 chr2 38065092 38065092 T G het . 1 +intergenic LINC00211(dist=20086),RMDN2(dist=29370) chr2 38123092 38123092 G A het . 2 +ncRNA_intronic RMDN2-AS1 chr2 38201783 38201783 A - het . 2 +intronic ATL2 chr2 38542573 38542573 T C het . 5 +intronic ATL2 chr2 38570908 38570908 T A het . 1 +intergenic ATL2(dist=28400),LINC01883(dist=24310) chr2 38634126 38634126 G C het . 2 +intergenic LOC101929596(dist=26406),HNRNPLL(dist=21040) chr2 38769288 38769288 C T het . 1 +intronic HNRNPLL chr2 38829562 38829562 G A het . 17 +intergenic HNRNPLL(dist=29453),GALM(dist=33418) chr2 38859631 38859634 TTTG - het . 2 +intronic GALM chr2 38908272 38908272 A - het . 4 +intronic SRSF7 chr2 38975943 38975943 T - het . 6 +intronic GEMIN6 chr2 39006603 39006603 T G het . 3 +intronic DHX57 chr2 39043388 39043388 G C het . 21 +intronic DHX57 chr2 39050062 39050062 T - het . 2 +intronic DHX57 chr2 39050067 39050067 C A het . 3 +intronic DHX57 chr2 39082580 39082591 CAATCAAAAGGA - het . 16 +intronic SOS1 chr2 39251375 39251375 - CAC het . 14 +intronic SOS1 chr2 39262297 39262297 A - het . 21 +intronic SOS1 chr2 39306652 39306652 - TG het . 2 +intronic MAP4K3 chr2 39486151 39486151 - TT het . 2 +intronic MAP4K3 chr2 39494566 39494566 C A het . 2 +intronic MAP4K3 chr2 39531290 39531290 T - het . 2 +intronic MAP4K3 chr2 39564620 39564620 C A het . 18 +intronic MAP4K3 chr2 39576796 39576796 G A het . 2 +ncRNA_intronic LOC728730 chr2 39671294 39671294 A C het . 2 +intergenic THUMPD2(dist=12539),SLC8A1-AS1(dist=125819) chr2 40018955 40018955 T A het . 4 +intergenic THUMPD2(dist=20167),SLC8A1-AS1(dist=118191) chr2 40026583 40026583 G A het . 3 +intronic SLC8A1 chr2 40613472 40613473 TA - het . 1 +intronic SLC8A1 chr2 40619207 40619207 - GAAG het . 2 +intronic SLC8A1 chr2 40619230 40619230 A G het . 1 +intronic SLC8A1 chr2 40619386 40619389 AAGC - het . 3 +intergenic SLC8A1(dist=2908),LINC01913(dist=1362212) chr2 40742483 40742483 C G het . 2 +intergenic SLC8A1(dist=186563),LINC01913(dist=1178557) chr2 40926138 40926138 G T het . 2 +intergenic SLC8A1(dist=290297),LINC01913(dist=1074823) chr2 41029872 41029872 G A het . 2 +intergenic SLC8A1(dist=890746),LINC01913(dist=474374) chr2 41630321 41630321 C T het . 2 +intergenic SLC8A1(dist=1303301),LINC01913(dist=61819) chr2 42042876 42042876 A C het . 1 +intergenic SLC8A1(dist=1319765),LINC01913(dist=45355) chr2 42059340 42059340 T G het . 3 +exonic PKDCC chr2 42275876 42275876 G C het . 11 +intergenic EML4(dist=1268),COX7A2L(dist=1745) chr2 42560956 42560956 C A het . 17 +intergenic EML4(dist=1287),COX7A2L(dist=1726) chr2 42560975 42560975 A G het . 17 +intronic MTA3 chr2 42888667 42888669 AAG - het . 2 +intronic MTA3 chr2 42946243 42946243 C A het . 9 +exonic OXER1 chr2 42990225 42990225 C G het . 6 +exonic OXER1 chr2 42990563 42990563 G - het . 10 +intronic HAAO chr2 43004464 43004464 G A het . 2 +intergenic HAAO(dist=5990),LINC01819(dist=229251) chr2 43025741 43025741 A G het . 2 +intergenic HAAO(dist=34284),LINC01819(dist=200957) chr2 43054035 43054035 T - het . 12 +intergenic HAAO(dist=34599),LINC01819(dist=200642) chr2 43054350 43054350 C A het . 21 +intergenic HAAO(dist=34618),LINC01819(dist=200623) chr2 43054369 43054369 T C het . 26 +intergenic HAAO(dist=41895),LINC01819(dist=193346) chr2 43061646 43061646 C G het . 1 +intergenic HAAO(dist=79004),LINC01819(dist=156237) chr2 43098755 43098755 C A het . 2 +intergenic HAAO(dist=138457),LINC01819(dist=96784) chr2 43158208 43158208 G A het . 2 +intergenic HAAO(dist=195706),LINC01819(dist=39535) chr2 43215457 43215457 G C het . 7 +intergenic HAAO(dist=232581),LINC01819(dist=2660) chr2 43252332 43252332 A C het . 3 +intergenic LINC01819(dist=52366),LINC02580(dist=5836) chr2 43319048 43319048 - T het . 4 +exonic ZFP36L2 chr2 43451601 43451601 T G het . 9 +intronic THADA chr2 43802347 43802347 T A het . 1 +intergenic THADA(dist=30957),PLEKHH2(dist=10297) chr2 43854142 43854142 G A het . 4 +intronic PLEKHH2 chr2 43903483 43903483 T C het . 4 +intronic PLEKHH2 chr2 43906634 43906636 TTT - het . 5 +intronic PLEKHH2 chr2 43949229 43949229 A - het . 2 +intronic PLEKHH2 chr2 43953264 43953267 AAAA - het . 8 +intronic DYNC2LI1 chr2 44002831 44002831 - T het . 7 +intronic ABCG5 chr2 44055649 44055649 A C het . 13 +intronic ABCG8 chr2 44101394 44101394 A G het . 9 +intronic ABCG8 chr2 44101430 44101430 T G het . 8 +intronic ABCG8 chr2 44101649 44101649 - CCC het . 20 +intronic LRPPRC chr2 44173088 44173091 AATT - het . 7 +intergenic LRPPRC(dist=48939),PPM1B(dist=123859) chr2 44272083 44272083 T A het . 2 +intergenic LRPPRC(dist=152466),PPM1B(dist=20332) chr2 44375610 44375610 C A het . 2 +intergenic LRPPRC(dist=152480),PPM1B(dist=20318) chr2 44375624 44375624 - AA het . 2 +intergenic PPM1B(dist=16907),SLC3A1(dist=23948) chr2 44478649 44478649 C G het . 1 +intronic SLC3A1 chr2 44520657 44520657 G - het . 2 +intronic SLC3A1 chr2 44526171 44526172 TT - het . 3 +UTR3 PREPL(NM_001171617:c.*3260_*3259delAA,NM_001171613:c.*3260_*3259delAA,NM_006036:c.*3260_*3259delAA,NM_001042385:c.*3260_*3259delAA,NM_001171606:c.*3260_*3259delAA,NM_001171603:c.*3260_*3259delAA,NM_001042386:c.*3260_*3259delAA) chr2 44545235 44545236 TT - het . 10 +exonic PREPL chr2 44554063 44554063 C A het . 19 +intronic PREPL chr2 44571216 44571218 AAT - het . 5 +intronic CAMKMT chr2 44605518 44605518 C T het . 4 +intronic CAMKMT chr2 44605522 44605522 G A het . 4 +intronic CAMKMT chr2 44893874 44893874 A G het . 4 +intronic CAMKMT chr2 44942384 44942384 C G het . 5 +intergenic CAMKMT(dist=59198),LINC01833(dist=89290) chr2 45058929 45058929 G A het . 2 +intergenic SIX2(dist=158094),LINC01121(dist=6840) chr2 45394636 45394640 TTAAT - het . 2 +intergenic SIX2(dist=158126),LINC01121(dist=6812) chr2 45394668 45394668 C A het . 2 +intronic PRKCE chr2 46117939 46117939 C T het . 2 +intronic PRKCE chr2 46117946 46117946 C G het . 1 +intronic PRKCE chr2 46117952 46117952 G T het . 1 +intronic PRKCE chr2 46117959 46117959 G T het . 1 +intronic PRKCE chr2 46197059 46197059 T A het . 2 +intronic PRKCE chr2 46197068 46197068 G A het . 2 +intronic EPAS1 chr2 46583235 46583235 C A het . 15 +intronic EPAS1 chr2 46583278 46583278 - G het . 32 +intronic EPAS1 chr2 46583279 46583279 - T het . 33 +intronic EPAS1 chr2 46583281 46583281 C T het . 32 +intronic EPAS1 chr2 46604043 46604043 C T het . 4 +intergenic LINC01820(dist=3293),LINC02583(dist=31730) chr2 46624599 46624599 G A het . 1 +exonic PIGF chr2 46839477 46839477 T C het . 14 +intronic PIGF chr2 46839488 46839488 A - het . 11 +intronic CRIPT chr2 46851181 46851181 T - het . 7 +intronic CRIPT chr2 46851183 46851183 T A het . 7 +intronic SOCS5 chr2 46940505 46940505 G T het . 2 +intronic MCFD2 chr2 47133185 47133185 C A het . 19 +intronic TTC7A chr2 47188322 47188322 G T het . 1 +intronic TTC7A chr2 47201753 47201753 C A het . 19 +intronic TTC7A chr2 47201797 47201797 A T het . 22 +exonic TTC7A chr2 47221525 47221525 G C het . 9 +exonic TTC7A chr2 47233090 47233090 G T het . 18 +intronic STPG4 chr2 47319254 47319254 C G het . 3 +intronic STPG4 chr2 47371700 47371700 A C het . 3 +intronic MSH2 chr2 47641779 47641779 C A het . 4 +intronic MSH2 chr2 47656762 47656762 C A het . 24 +intronic MSH2 chr2 47702451 47702451 - T het . 5 +intergenic KCNK12(dist=81780),MSH6(dist=130971) chr2 47879250 47879250 G T het . 2 +intergenic KCNK12(dist=120322),MSH6(dist=92429) chr2 47917792 47917792 A - het . 4 +intergenic KCNK12(dist=158449),MSH6(dist=54302) chr2 47955919 47955919 A C het . 1 +intergenic KCNK12(dist=161573),MSH6(dist=51165) chr2 47959043 47959056 AAAAAAAAAAAAAA - het . 9 +intronic MSH6 chr2 48020458 48020459 AA TC het . 1 +intronic MSH6 chr2 48022900 48022900 A G het . 9 +intronic MSH6 chr2 48030838 48030838 A T het . 24 +intronic MSH6 chr2 48032312 48032312 G A het . 6 +intronic MSH6 chr2 48032741 48032741 T - het . 28 +intronic MSH6 chr2 48032875 48032878 CTAT - het . 24 +intronic MSH6 chr2 48033891 48033892 TT - het . 29 +intronic FBXO11 chr2 48035673 48035673 A G het . 2 +intergenic FBXO11(dist=44712),FOXN2(dist=364151) chr2 48177644 48177644 C A het . 4 +intronic PPP1R21 chr2 48688259 48688259 T - het . 11 +intronic PPP1R21 chr2 48695016 48695016 G T het . 2 +intronic PPP1R21 chr2 48728060 48728060 C A het . 2 +upstream STON1,STON1-GTF2A1L(dist=509) chr2 48756555 48756555 A C het . 8 +intronic STON1-GTF2A1L chr2 48834953 48834953 G C het . 2 +intronic STON1-GTF2A1L chr2 48840979 48840979 T - het . 3 +intronic GTF2A1L,STON1-GTF2A1L chr2 48873513 48873513 T - het . 3 +exonic GTF2A1L,STON1-GTF2A1L chr2 48873978 48873978 A G het . 13 +intronic LHCGR,STON1-GTF2A1L chr2 48925987 48925987 T - het . 19 +intronic LHCGR,STON1-GTF2A1L chr2 48948919 48948919 C A het . 28 +intronic LHCGR,STON1-GTF2A1L chr2 48952740 48952740 A C het . 19 +exonic LHCGR chr2 48982755 48982755 - GCTGCA het . 12 +UTR3 STON1-GTF2A1L(NM_001198593:c.*4C>T) chr2 49003458 49003458 C T het . 30 +intronic FSHR chr2 49244522 49244522 C A het . 3 +intronic FSHR chr2 49278585 49278585 A C het . 1 +intergenic FSHR(dist=194958),NRXN1(dist=569019) chr2 49576624 49576624 C T het . 1 +intergenic FSHR(dist=347653),NRXN1(dist=416324) chr2 49729319 49729319 G C het . 1 +UTR3 NRXN1(NM_001135659:c.*98A>G,NM_138735:c.*98A>G,NM_001330082:c.*98A>G,NM_001330085:c.*98A>G,NM_001320157:c.*98A>G,NM_001320156:c.*98A>G,NM_001330093:c.*98A>G,NM_001330092:c.*98A>G,NM_001330091:c.*98A>G,NM_001330088:c.*98A>G,NM_001330087:c.*98A>G,NM_001330086:c.*98A>G,NM_001330077:c.*98A>G,NM_001330097:c.*98A>G,NM_001330084:c.*98A>G,NM_001330083:c.*98A>G,NM_004801:c.*98A>G,NM_001330094:c.*98A>G,NM_001330096:c.*98A>G,NM_001330095:c.*98A>G,NM_001330078:c.*98A>G) chr2 50148984 50148984 T C het . 5 +intronic NRXN1 chr2 50239195 50239195 A G het . 2 +intronic NRXN1 chr2 50893978 50893980 ATG - het . 3 +splicing NRXN1(NM_001135659:exon3:c.773-1G>A) chr2 51253608 51253608 C T het . 12 +ncRNA_intronic LOC730100 chr2 51388956 51388956 A G het . 2 +ncRNA_intronic LOC730100 chr2 51891537 51891537 A T het . 3 +ncRNA_intronic LOC730100 chr2 52062275 52062275 T A het . 3 +ncRNA_intronic LOC730100 chr2 52466503 52466503 C T het . 2 +ncRNA_intronic LOC730100 chr2 52466512 52466512 T A het . 2 +intergenic LOC730100(dist=40231),MIR4431(dist=254374) chr2 52675286 52675286 G A het . 3 +intergenic LOC730100(dist=261621),MIR4431(dist=32984) chr2 52896676 52896676 C A het . 2 +intergenic LOC730100(dist=261627),MIR4431(dist=32978) chr2 52896682 52896682 T C het . 2 +intergenic MIR4431(dist=7564),ASB3(dist=959800) chr2 52937317 52937317 T G het . 5 +intergenic MIR4431(dist=141940),ASB3(dist=825424) chr2 53071693 53071693 T A het . 1 +intergenic MIR4431(dist=169653),ASB3(dist=797711) chr2 53099406 53099406 A G het . 2 +intergenic MIR4431(dist=226482),ASB3(dist=740882) chr2 53156235 53156235 G A het . 2 +intergenic MIR4431(dist=452485),ASB3(dist=514879) chr2 53382238 53382238 C T het . 2 +intergenic MIR4431(dist=591991),ASB3(dist=375373) chr2 53521744 53521744 G A het . 3 +intergenic MIR4431(dist=711462),ASB3(dist=255902) chr2 53641215 53641215 T C het . 2 +intronic ASB3,GPR75-ASB3 chr2 53956055 53956055 - T het . 17 +intronic PSME4 chr2 54125495 54125495 T C het . 18 +intronic ACYP2 chr2 54240879 54240881 AAG - het . 2 +intronic ACYP2 chr2 54462416 54462416 T - het . 4 +intronic ACYP2 chr2 54462418 54462418 T G het . 4 +intronic ACYP2 chr2 54501808 54501808 G T het . 3 +exonic C2orf73 chr2 54587596 54587596 C T het . 17 +intronic SPTBN1 chr2 54711907 54711907 - GTG het . 10 +intronic SPTBN1 chr2 54819088 54819088 G T het . 1 +intronic SPTBN1 chr2 54834380 54834380 G A het . 2 +intronic SPTBN1 chr2 54882092 54882110 CCATCAGTTTCTTTCAAGG - het . 8 +intergenic SPTBN1(dist=26597),EML6(dist=26969) chr2 54925180 54925180 A C het . 2 +intergenic SPTBN1(dist=44601),EML6(dist=8965) chr2 54943184 54943184 A G het . 2 +intergenic SPTBN1(dist=44605),EML6(dist=8961) chr2 54943188 54943188 T A het . 2 +intronic EML6 chr2 55093657 55093657 G A het . 2 +intronic EML6 chr2 55118359 55118359 C A het . 7 +intronic EML6 chr2 55138379 55138379 T C het . 3 +intronic EML6 chr2 55176112 55176112 C T het . 16 +exonic RTN4 chr2 55252528 55252528 C A het . 23 +intronic RTN4 chr2 55263763 55263763 A - het . 2 +intronic RPS27A chr2 55460751 55460751 C T het . 1 +intronic CCDC88A chr2 55528514 55528514 A G het . 7 +intronic CCDC88A chr2 55559652 55559654 AAA - het . 5 +intronic CCDC88A chr2 55591176 55591176 T C het . 20 +intronic CCDC88A chr2 55617255 55617255 C T het . 3 +intronic CCDC88A chr2 55617261 55617261 - CTAACAAAAAC het . 2 +intronic CCDC88A chr2 55617278 55617278 A C het . 2 +intergenic CCDC88A(dist=15733),CFAP36(dist=83941) chr2 55662790 55662790 A G het . 6 +intronic PPP4R3B chr2 55804281 55804281 G A het . 6 +intronic PPP4R3B chr2 55836366 55836366 C T het . 2 +intronic PNPT1 chr2 55867938 55867938 A G het . 8 +intronic PNPT1 chr2 55870874 55870874 A - het . 3 +intronic PNPT1 chr2 55894090 55894090 A G het . 5 +intronic PNPT1 chr2 55915898 55915898 C A het . 14 +intronic PNPT1 chr2 55915901 55915901 C A het . 14 +intronic EFEMP1 chr2 56108958 56108958 A - het . 10 +intergenic MIR217HG(dist=22165),LINC01813(dist=5163) chr2 56296626 56296626 G A het . 2 +intronic CCDC85A chr2 56596007 56596007 T C het . 2 +UTR3 CCDC85A(NM_001348516:c.*93_*94insAAG,NM_001348515:c.*53_*54insAAG,NM_001348514:c.*53_*54insAAG,NM_001348513:c.*53_*54insAAG,NM_001348512:c.*53_*54insAAG,NM_001080433:c.*53_*54insAAG) chr2 56611543 56611543 - AAG het . 19 +intergenic CCDC85A(dist=19598),VRK2(dist=1501877) chr2 56632907 56632909 AAA - het . 2 +intergenic CCDC85A(dist=258150),VRK2(dist=1263327) chr2 56871459 56871459 - T het . 2 +intergenic CCDC85A(dist=359608),VRK2(dist=1161869) chr2 56972917 56972917 A G het . 1 +intergenic CCDC85A(dist=490294),VRK2(dist=1031183) chr2 57103603 57103603 G A het . 1 +intergenic CCDC85A(dist=540228),VRK2(dist=981249) chr2 57153537 57153537 A G het . 1 +intergenic CCDC85A(dist=609474),VRK2(dist=912003) chr2 57222783 57222783 C T het . 2 +intergenic CCDC85A(dist=786273),VRK2(dist=735204) chr2 57399582 57399582 T A het . 2 +intergenic CCDC85A(dist=828898),VRK2(dist=692579) chr2 57442207 57442207 A G het . 2 +intergenic CCDC85A(dist=992554),VRK2(dist=528923) chr2 57605863 57605863 C A het . 2 +intergenic CCDC85A(dist=1179689),VRK2(dist=341788) chr2 57792998 57792998 C T het . 2 +intergenic CCDC85A(dist=1276999),VRK2(dist=244478) chr2 57890308 57890308 C T het . 2 +intronic FANCL chr2 58446080 58446080 G T het . 1 +intronic FANCL chr2 58453843 58453843 - A het . 22 +intergenic LINC01795(dist=163925),LINC01122(dist=60280) chr2 58687608 58687608 G T het . 36 +ncRNA_intronic LINC01122 chr2 59171271 59171271 T - het . 2 +ncRNA_intronic LINC01122 chr2 59171431 59171431 G A het . 4 +ncRNA_intronic LINC01122 chr2 59196042 59196042 A T het . 2 +intergenic LINC01793(dist=778787),MIR4432HG(dist=301029) chr2 60285322 60285322 G A het . 2 +intergenic LINC01793(dist=778825),MIR4432HG(dist=300991) chr2 60285360 60285360 - AAAAG het . 3 +intergenic BCL11A(dist=6351),PAPOLG(dist=196381) chr2 60786984 60786984 T C het . 3 +intronic PAPOLG chr2 60983639 60983639 T G het . 3 +intronic REL chr2 61121492 61121492 G A het . 4 +intronic REL chr2 61143919 61143919 A G het . 6 +exonic REL chr2 61145729 61145729 C A het . 20 +intergenic REL(dist=8667),PUS10(dist=3590) chr2 61163958 61163958 G T het . 6 +intronic PUS10 chr2 61180288 61180288 C T het . 9 +intronic KIAA1841 chr2 61308570 61308570 T - het . 15 +intronic C2orf74 chr2 61385100 61385100 G A het . 14 +intronic C2orf74 chr2 61385105 61385105 G C het . 12 +intronic C2orf74 chr2 61390505 61390505 A T het . 2 +intronic USP34 chr2 61483715 61483715 A T het . 6 +intronic USP34 chr2 61483725 61483725 T A het . 6 +intronic USP34 chr2 61538615 61538615 G A het . 7 +intronic USP34 chr2 61538621 61538621 G A het . 6 +intronic USP34 chr2 61612881 61612881 C A het . 4 +intronic XPO1 chr2 61709748 61709748 T - het . 5 +intronic XPO1 chr2 61722752 61722752 C A het . 13 +intronic XPO1 chr2 61728900 61728900 - AT het . 4 +intergenic XPO1(dist=35859),FAM161A(dist=250706) chr2 61801277 61801277 T A het . 2 +intronic FAM161A chr2 62063094 62063095 AA - het . 14 +exonic FAM161A chr2 62065678 62065678 A G het . 20 +intronic FAM161A chr2 62066418 62066422 TATAT - het . 10 +UTR5 FAM161A(NM_032180:c.-41T>C,NM_001201543:c.-41T>C) chr2 62081217 62081217 A G het . 11 +intronic CCT4 chr2 62100305 62100305 C A het . 29 +intronic COMMD1 chr2 62330981 62330981 T - het . 2 +intergenic COMMD1(dist=11252),B3GNT2(dist=48805) chr2 62374457 62374457 - A het . 3 +intergenic COMMD1(dist=53704),B3GNT2(dist=6352) chr2 62416909 62416910 AA - het . 1 +intergenic B3GNT2(dist=179667),TMEM17(dist=95823) chr2 62631533 62631533 - AAAGA het . 2 +intronic EHBP1 chr2 62901299 62901299 C A het . 11 +intronic EHBP1 chr2 62998656 62998656 T C het . 7 +intronic EHBP1 chr2 63001019 63001019 - AG het . 1 +intronic EHBP1 chr2 63101170 63101170 G A het . 3 +intronic EHBP1 chr2 63235757 63235757 C G het . 2 +exonic OTX1 chr2 63283372 63283372 C A het . 17 +intronic WDPCP chr2 63545598 63545598 A T het . 2 +intronic WDPCP chr2 63590875 63590875 - T het . 2 +intronic WDPCP chr2 63640895 63640895 G T het . 3 +intronic WDPCP chr2 63664885 63664885 - T het . 13 +intronic WDPCP chr2 63721421 63721421 - GACGACGAC het . 14 +intronic WDPCP chr2 63777670 63777670 T C het . 2 +intronic WDPCP chr2 63810814 63810814 A - het . 3 +intronic MDH1 chr2 63816776 63816776 T C het . 2 +intergenic MDH1(dist=160823),UGP2(dist=72945) chr2 63995153 63995153 T A het . 2 +intergenic LGALSL(dist=1586),LINC01805(dist=23384) chr2 64690103 64690103 A C het . 3 +intronic AFTPH chr2 64776057 64776057 C T het . 2 +intronic SERTAD2 chr2 64867609 64867610 CT - het . 2 +intergenic SERTAD2(dist=103979),LINC01800(dist=88238) chr2 64985025 64985026 AC - het . 2 +intronic SLC1A4 chr2 65243038 65243038 T G het . 2 +exonic SLC1A4 chr2 65243589 65243589 C A het . 19 +intronic SLC1A4 chr2 65243822 65243822 G A het . 17 +intronic RAB1A chr2 65325265 65325265 A G het . 3 +intergenic RAB1A(dist=5579),ACTR2(dist=91815) chr2 65363014 65363014 G A het . 3 +intergenic SPRED2(dist=26898),MIR4778(dist=898827) chr2 65686554 65686554 T C het . 1 +intergenic SPRED2(dist=109877),MIR4778(dist=815848) chr2 65769533 65769533 A - het . 2 +intergenic SPRED2(dist=111568),MIR4778(dist=814157) chr2 65771224 65771224 A G het . 2 +intergenic SPRED2(dist=235433),MIR4778(dist=690292) chr2 65895089 65895089 C T het . 1 +intergenic SPRED2(dist=317249),MIR4778(dist=608476) chr2 65976905 65976905 T C het . 1 +intergenic SPRED2(dist=879555),MIR4778(dist=46170) chr2 66539211 66539211 A - het . 2 +ncRNA_intronic LINC01828 chr2 67349441 67349441 G T het . 2 +ncRNA_intronic LINC01828,LINC01829 chr2 67416392 67416392 T - het . 3 +intergenic LINC01828(dist=42800),ETAA1(dist=65266) chr2 67559176 67559176 C T het . 3 +exonic ETAA1 chr2 67631676 67631676 C A het . 42 +intergenic ETAA1(dist=139155),LINC01812(dist=246494) chr2 67776688 67776692 TATTT - het . 2 +ncRNA_intronic LINC01812 chr2 68035007 68035009 CTT - het . 4 +ncRNA_intronic LINC01812 chr2 68035394 68035394 T - het . 2 +ncRNA_intronic LINC01812 chr2 68036207 68036207 G A het . 2 +intergenic LINC01812(dist=49825),C1D(dist=166813) chr2 68102519 68102519 G A het . 2 +intergenic LINC01812(dist=198653),C1D(dist=17985) chr2 68251347 68251347 A G het . 5 +intronic C1D chr2 68272970 68272970 - A het . 6 +intronic C1D chr2 68273851 68273851 G C het . 2 +intronic PNO1 chr2 68388283 68388283 C T het . 13 +UTR5 PPP3R1(NM_000945:c.-106A>C) chr2 68479365 68479365 T G het . 7 +UTR3 CNRIP1(NM_001111101:c.*53delT) chr2 68511507 68511507 A - het . 8 +intronic CNRIP1 chr2 68512800 68512800 - AAAAG het . 2 +intronic PROKR1 chr2 68881939 68881939 A - het . 10 +exonic ARHGAP25 chr2 69049745 69049745 C A het . 23 +intronic ANTXR1 chr2 69297688 69297688 C A het . 15 +intronic ANTXR1 chr2 69300281 69300281 T G het . 17 +intronic ANTXR1 chr2 69379614 69379614 G A het . 3 +intronic ANTXR1 chr2 69409565 69409565 C A het . 33 +intronic ANTXR1 chr2 69420591 69420591 T A het . 15 +intronic ANTXR1 chr2 69420596 69420596 T C het . 14 +intronic GFPT1 chr2 69553376 69553377 AA - het . 24 +intronic GFPT1 chr2 69565843 69565843 A - het . 15 +intronic GFPT1 chr2 69565844 69565844 A T het . 15 +intronic AAK1 chr2 69709732 69709732 C A het . 14 +exonic AAK1 chr2 69741854 69741854 T G het . 8 +exonic AAK1 chr2 69784110 69784110 C A het . 20 +exonic MXD1 chr2 70162493 70162493 C T het . 28 +intronic MXD1 chr2 70164306 70164306 G T het . 19 +intronic C2orf42 chr2 70381204 70381204 - A het . 3 +exonic TIA1 chr2 70439942 70439942 T C het . 16 +intronic TIA1 chr2 70441783 70441783 A C het . 1 +intronic TIA1 chr2 70454794 70454794 G C het . 9 +splicing TIA1(NM_001351525:exon4:UTR5,NM_001351512:exon4:c.118-2->T,NM_001351508:exon4:c.223-2->T,NM_001351511:exon4:c.112-2->T,NM_001351510:exon4:c.223-2->T,NM_001351509:exon4:c.229-2->T,NM_001351515:exon4:UTR5,NM_001351514:exon3:c.28-2->T,NM_001351513:exon4:c.112-2->T,NM_022037:exon4:c.223-2->T,NM_001351524:exon4:UTR5,NM_001351517:exon4:UTR5,NM_022173:exon4:c.223-2->T,NM_001351516:exon4:c.223-2->T,NM_001351518:exon4:c.223-2->T,NM_001351522:exon4:c.223-2->T,NM_001351523:exon3:c.28-2->T,NM_001351521:exon4:c.223-2->T,NM_001351520:exon4:c.229-2->T,NM_001351519:exon4:c.223-2->T) chr2 70456452 70456452 - A het . 13 +intronic TIA1 chr2 70457740 70457740 T C het . 6 +intronic TIA1 chr2 70457785 70457785 A - het . 4 +intronic TIA1 chr2 70463335 70463335 T - het . 11 +intergenic FAM136A(dist=36507),TGFA(dist=108684) chr2 70565727 70565728 AT - het . 2 +UTR3 TGFA(NM_003236:c.*1352T>C,NM_001308159:c.*1352T>C,NM_001308158:c.*1352T>C,NM_001099691:c.*1352T>C) chr2 70676639 70676639 A G het . 3 +UTR5 ADD2(NM_001617:c.-61551A>C,NM_017488:c.-61551A>C,NM_001185055:c.-60A>C,NM_017482:c.-61551A>C) chr2 70995091 70995091 T G het . 10 +UTR5 ADD2(NM_001617:c.-61556A>C,NM_017488:c.-61556A>C,NM_001185055:c.-65A>C,NM_017482:c.-61556A>C) chr2 70995096 70995096 T G het . 11 +intronic CLEC4F chr2 71040644 71040647 TTTC - het . 2 +intronic VAX2 chr2 71147775 71147778 ACAC - het . 2 +intronic ATP6V1B1 chr2 71185576 71185576 A G het . 4 +intronic ATP6V1B1 chr2 71185581 71185581 T G het . 3 +exonic ANKRD53 chr2 71211989 71211989 A G het . 13 +intergenic OR7E91P(dist=25390),NAGK(dist=12958) chr2 71282450 71282450 G C het . 6 +intronic MPHOSPH10 chr2 71360723 71360723 A G het . 5 +intronic MPHOSPH10 chr2 71361752 71361752 G A het . 15 +intronic MPHOSPH10 chr2 71376201 71376201 C T het . 3 +intergenic PAIP2B(dist=36393),ZNF638(dist=68259) chr2 71490626 71490626 - T het . 2 +exonic ZNF638 chr2 71576610 71576610 G T het . 18 +exonic ZNF638 chr2 71577063 71577063 C A het . 33 +intronic ZNF638 chr2 71609097 71609097 C T het . 2 +UTR3 ZNF638(NM_001252612:c.*12G>A,NM_001252613:c.*12G>A,NM_014497:c.*12G>A,NM_001014972:c.*12G>A) chr2 71661949 71661949 G A het . 12 +intergenic ZNF638(dist=13725),DYSF(dist=4837) chr2 71675916 71675916 G T het . 2 +intronic DYSF chr2 71710645 71710645 T C het . 1 +intronic DYSF chr2 71744202 71744202 T C het . 39 +intronic DYSF chr2 71747851 71747851 T C het . 6 +intronic DYSF chr2 71762092 71762092 G A het . 7 +exonic DYSF chr2 71801334 71801334 - AGGCGG het . 13 +intergenic CYP26B1(dist=14343),EXOC6B(dist=13779) chr2 72389334 72389334 G T het . 2 +intronic EXOC6B chr2 72692272 72692272 - AG het . 17 +intronic EXOC6B chr2 72719793 72719793 - T het . 4 +intronic EXOC6B chr2 72741729 72741730 AA - het . 3 +intronic EXOC6B chr2 72741733 72741734 AA - het . 3 +intronic EXOC6B chr2 72742084 72742085 AC - het . 3 +intronic EXOC6B chr2 72766892 72766892 C T het . 2 +intronic EXOC6B chr2 72958022 72958022 - AAG het . 14 +intronic SFXN5 chr2 73247148 73247148 A C het . 3 +intronic CCT7 chr2 73467677 73467678 AA - het . 19 +intronic FBXO41 chr2 73489871 73489871 T C het . 2 +intronic ALMS1 chr2 73628325 73628325 - T het . 2 +intronic ALMS1 chr2 73635900 73635901 TT - het . 16 +intronic ALMS1 chr2 73651389 73651389 A G het . 5 +exonic ALMS1 chr2 73680166 73680166 C A het . 22 +exonic ALMS1 chr2 73828538 73828538 G A het . 23 +intronic ALMS1 chr2 73829294 73829294 - T het . 34 +UTR3 ALMS1(NM_015120:c.*55C>A) chr2 73836794 73836794 C A het . 30 +intergenic ALMS1(dist=1712),NAT8(dist=29091) chr2 73838758 73838759 TT - het . 2 +intergenic ALMS1(dist=1715),NAT8(dist=29088) chr2 73838761 73838762 AG - het . 2 +ncRNA_intronic ALMS1P1 chr2 73900844 73900844 C G het . 8 +ncRNA_intronic ALMS1P1 chr2 73900900 73900900 T C het . 10 +ncRNA_intronic ALMS1P1 chr2 73900919 73900919 T - het . 7 +exonic NAT8B chr2 73927931 73927931 A G het . 8 +intronic TPRKB chr2 73957227 73957227 T A het . 10 +intronic STAMBP chr2 74086659 74086659 T A het . 2 +intronic STAMBP chr2 74089267 74089267 A - het . 7 +intronic ACTG2 chr2 74135732 74135732 G A het . 3 +intronic ACTG2 chr2 74135797 74135797 T C het . 4 +ncRNA_intronic DGUOK-AS1 chr2 74203218 74203218 T G het . 1 +intronic TET3 chr2 74230311 74230320 GTGCGTGTGT - het . 3 +intronic SLC4A5 chr2 74533780 74533780 T - het . 7 +ncRNA_intronic DCTN1-AS1 chr2 74618997 74618997 G C het . 10 +ncRNA_intronic DCTN1-AS1 chr2 74619001 74619001 T C het . 10 +intergenic DCTN1-AS1(dist=16697),C2orf81(dist=3598) chr2 74637705 74637705 C A het . 4 +exonic CCDC142 chr2 74709785 74709785 C A het . 15 +UTR3 TLX2(NM_016170:c.*67C>A) chr2 74743383 74743383 C A het . 8 +intergenic HK2(dist=7965),LINC01291(dist=7812) chr2 75128446 75128446 T G het . 2 +intergenic HK2(dist=7971),LINC01291(dist=7806) chr2 75128452 75128452 T C het . 2 +intronic TACR1 chr2 75335617 75335617 T G het . 2 +intergenic TACR1(dist=123020),EVA1A(dist=169779) chr2 75549665 75549665 - T het . 2 +intronic EVA1A chr2 75778286 75778286 C T het . 3 +UTR3 MRPL19(NM_014763:c.*26C>A) chr2 75882437 75882437 C A het . 20 +intronic GCFC2 chr2 75897535 75897535 A G het . 5 +intronic GCFC2 chr2 75923516 75923516 G C het . 16 +intergenic GCFC2(dist=248337),LRRTM4(dist=788402) chr2 76186448 76186448 G A het . 2 +intergenic GCFC2(dist=248371),LRRTM4(dist=788368) chr2 76186482 76186482 A G het . 2 +intergenic GCFC2(dist=312902),LRRTM4(dist=723837) chr2 76251013 76251013 G A het . 3 +intergenic GCFC2(dist=312922),LRRTM4(dist=723817) chr2 76251033 76251033 T A het . 3 +intergenic GCFC2(dist=317844),LRRTM4(dist=718895) chr2 76255955 76255955 T - het . 3 +intergenic GCFC2(dist=375594),LRRTM4(dist=661145) chr2 76313705 76313705 C - het . 2 +intergenic GCFC2(dist=375628),LRRTM4(dist=661111) chr2 76313739 76313739 T G het . 2 +intergenic GCFC2(dist=456701),LRRTM4(dist=580038) chr2 76394812 76394812 C A het . 1 +intergenic GCFC2(dist=518930),LRRTM4(dist=517806) chr2 76457041 76457044 AAGT - het . 3 +intergenic GCFC2(dist=651316),LRRTM4(dist=385423) chr2 76589427 76589427 A G het . 2 +intergenic GCFC2(dist=654426),LRRTM4(dist=382313) chr2 76592537 76592537 C T het . 2 +intergenic GCFC2(dist=746012),LRRTM4(dist=290727) chr2 76684123 76684123 - TAAAA het . 2 +intergenic GCFC2(dist=898536),LRRTM4(dist=138203) chr2 76836647 76836647 A G het . 5 +intronic LRRTM4 chr2 77055306 77055306 G T het . 2 +intronic LRRTM4 chr2 77403999 77403999 T A het . 1 +intronic LRRTM4 chr2 77405758 77405758 C T het . 2 +intronic LRRTM4 chr2 77638531 77638531 A C het . 2 +intronic LRRTM4 chr2 77748605 77748605 A - het . 5 +intergenic LRRTM4(dist=33322),LOC101927967(dist=187941) chr2 77782881 77782881 T C het . 1 +ncRNA_intronic LOC101927967 chr2 78206096 78206096 A T het . 1 +ncRNA_intronic LOC101927967 chr2 78206140 78206140 A G het . 2 +ncRNA_intronic LOC101927948,LOC101927967 chr2 78329080 78329080 G C het . 3 +intergenic LOC101927967(dist=13458),LOC105374820(dist=241342) chr2 78531315 78531315 C A het . 1 +intergenic LOC101927967(dist=13461),LOC105374820(dist=241339) chr2 78531318 78531318 T G het . 1 +intergenic LOC101927967(dist=13464),LOC105374820(dist=241336) chr2 78531321 78531321 - AAA het . 1 +intergenic LOC101927967(dist=13486),LOC105374820(dist=241314) chr2 78531343 78531343 G T het . 1 +intergenic LOC101927967(dist=33582),LOC105374820(dist=221218) chr2 78551439 78551439 G A het . 2 +intergenic LOC101927967(dist=54752),LOC105374820(dist=200048) chr2 78572609 78572609 - TCCTC het . 3 +intergenic LOC101927967(dist=198081),LOC105374820(dist=56719) chr2 78715938 78715938 T C het . 3 +intergenic LOC105374820(dist=142760),REG3G(dist=316842) chr2 78935970 78935970 T A het . 3 +intergenic LOC105374820(dist=228219),REG3G(dist=231383) chr2 79021429 79021429 T C het . 1 +intergenic LOC105374820(dist=305829),REG3G(dist=153773) chr2 79099039 79099039 C A het . 2 +intronic REG1B chr2 79314062 79314062 - A het . 8 +intronic REG1B chr2 79314081 79314081 T C het . 8 +intronic REG1B chr2 79314094 79314094 G T het . 10 +intronic REG1B chr2 79314099 79314099 G A het . 11 +intergenic REG3A(dist=241058),LOC101927987(dist=92904) chr2 79627938 79627938 G A het . 2 +intronic CTNNA2 chr2 79760238 79760238 T C het . 1 +intronic CTNNA2 chr2 79781036 79781036 T C het . 1 +intronic CTNNA2 chr2 79837477 79837477 G A het . 1 +intronic CTNNA2 chr2 80241233 80241233 A G het . 1 +intronic CTNNA2 chr2 80430581 80430581 C T het . 1 +intergenic CTNNA2(dist=418210),LINC01815(dist=394285) chr2 81294198 81294198 G A het . 2 +intergenic CTNNA2(dist=548170),LINC01815(dist=264325) chr2 81424158 81424158 G T het . 4 +intergenic CTNNA2(dist=551199),LINC01815(dist=261296) chr2 81427187 81427187 C T het . 5 +intergenic LINC01815(dist=174062),DHFRP3(dist=1215795) chr2 81868132 81868132 A G het . 2 +intergenic LINC01815(dist=214531),DHFRP3(dist=1175326) chr2 81908601 81908601 T C het . 2 +intergenic LINC01815(dist=363642),DHFRP3(dist=1026215) chr2 82057712 82057712 A G het . 3 +intergenic LINC01815(dist=363653),DHFRP3(dist=1026204) chr2 82057723 82057723 G A het . 3 +intergenic LINC01815(dist=391971),DHFRP3(dist=997886) chr2 82086041 82086041 A - het . 4 +intergenic LINC01815(dist=412748),DHFRP3(dist=977109) chr2 82106818 82106818 G A het . 2 +intergenic LINC01815(dist=420807),DHFRP3(dist=969050) chr2 82114877 82114877 - T het . 2 +intergenic LINC01815(dist=440424),DHFRP3(dist=949433) chr2 82134494 82134494 G C het . 2 +intergenic LINC01815(dist=594593),DHFRP3(dist=795264) chr2 82288663 82288663 G T het . 2 +intergenic LINC01815(dist=607636),DHFRP3(dist=782221) chr2 82301706 82301706 C A het . 1 +intergenic LINC01815(dist=642309),DHFRP3(dist=747548) chr2 82336379 82336379 T C het . 1 +intergenic LINC01815(dist=980275),DHFRP3(dist=409582) chr2 82674345 82674345 A T het . 6 +intergenic LINC01815(dist=1088660),DHFRP3(dist=301197) chr2 82782730 82782730 C T het . 2 +intergenic LINC01815(dist=1120380),DHFRP3(dist=269477) chr2 82814450 82814450 A G het . 2 +intergenic LINC01815(dist=1348099),DHFRP3(dist=41758) chr2 83042169 83042169 T C het . 1 +intergenic LINC01815(dist=1348113),DHFRP3(dist=41744) chr2 83042183 83042183 C T het . 1 +intergenic DHFRP3(dist=66430),LINC01809(dist=598615) chr2 83151323 83151323 C T het . 1 +intergenic DHFRP3(dist=199783),LINC01809(dist=465262) chr2 83284676 83284676 C T het . 2 +intergenic DHFRP3(dist=294029),LINC01809(dist=371016) chr2 83378922 83378922 A T het . 2 +intergenic DHFRP3(dist=373617),LINC01809(dist=291428) chr2 83458510 83458510 G A het . 2 +intergenic DHFRP3(dist=580095),LINC01809(dist=84950) chr2 83664988 83664988 C T het . 1 +intergenic DHFRP3(dist=595878),LINC01809(dist=69167) chr2 83680771 83680771 A G het . 1 +intergenic DHFRP3(dist=622092),LINC01809(dist=42953) chr2 83706985 83706985 A C het . 2 +intergenic LINC01809(dist=616613),FUNDC2P2(dist=150588) chr2 84367218 84367218 A - het . 2 +intergenic LINC01809(dist=688013),FUNDC2P2(dist=79188) chr2 84438618 84438618 T C het . 1 +intergenic LINC01809(dist=688041),FUNDC2P2(dist=79160) chr2 84438646 84438646 C T het . 2 +intergenic LINC01809(dist=728422),FUNDC2P2(dist=38770) chr2 84479027 84479036 GAAAAGGAAA - het . 3 +intergenic LINC01809(dist=728476),FUNDC2P2(dist=38724) chr2 84479081 84479082 GG - het . 3 +intergenic FUNDC2P2(dist=117649),SUCLG1(dist=13674) chr2 84636973 84636973 A T het . 1 +intronic SUCLG1 chr2 84677140 84677140 A G het . 3 +intergenic SUCLG1(dist=4340),DNAH6(dist=52653) chr2 84690926 84690926 A G het . 2 +intronic DNAH6 chr2 84756450 84756450 C A het . 8 +intronic DNAH6 chr2 84770266 84770266 G A het . 3 +intronic DNAH6 chr2 84770278 84770278 C A het . 3 +intronic DNAH6 chr2 84828584 84828584 T G het . 1 +intronic DNAH6 chr2 84831265 84831265 T G het . 2 +intronic DNAH6 chr2 84899761 84899761 C G het . 2 +intronic TRABD2A chr2 85069244 85069244 G A het . 4 +intergenic TMSB10(dist=52087),KCMF1(dist=12345) chr2 85185886 85185886 G A het . 1 +intergenic TGOLN2(dist=11547),RETSAT(dist=2112) chr2 85566966 85566966 C T het . 1 +intronic SH2D6 chr2 85650321 85650321 T G het . 1 +intergenic SH2D6(dist=4836),PARTICL(dist=95602) chr2 85668988 85668988 A G het . 2 +intergenic SH2D6(dist=85644),PARTICL(dist=14794) chr2 85749796 85749796 - CTTT het . 1 +intronic MAT2A chr2 85766545 85766545 C T het . 5 +intronic GGCX chr2 85779495 85779495 G A het . 20 +intronic VAMP8 chr2 85807082 85807082 T A het . 2 +intronic GNLY chr2 85925386 85925386 T C het . 4 +intronic ST3GAL5 chr2 86075582 86075582 C T het . 8 +intronic ST3GAL5 chr2 86107952 86107952 A - het . 17 +intronic ST3GAL5 chr2 86107987 86107987 T C het . 16 +intronic ST3GAL5 chr2 86108254 86108254 T G het . 2 +intergenic ST3GAL5-AS1(dist=8631),POLR1A(dist=119333) chr2 86128006 86128006 C T het . 3 +intronic POLR1A chr2 86282960 86282960 A G het . 2 +intronic POLR1A chr2 86291900 86291900 C T het . 2 +intronic PTCD3 chr2 86344367 86344367 T C het . 7 +intronic PTCD3 chr2 86352010 86352010 G T het . 6 +intronic IMMT chr2 86400704 86400704 A - het . 19 +intronic REEP1 chr2 86447989 86447989 G A het . 2 +exonic REEP1 chr2 86479088 86479088 C A het . 35 +intergenic REEP1(dist=40633),KDM3A(dist=62432) chr2 86605839 86605839 T - het . 11 +intergenic REEP1(dist=69984),KDM3A(dist=33081) chr2 86635190 86635190 A G het . 2 +exonic KDM3A chr2 86693737 86693737 G T het . 32 +intronic KDM3A chr2 86711086 86711086 A G het . 7 +UTR5 RNF103(NM_005667:c.-105A>C,NM_001198952:c.-105A>C) chr2 86850114 86850114 T G het . 4 +UTR3 CD8A(NM_001768:c.*643_*642delTT,NM_171827:c.*643_*642delTT,NM_001145873:c.*643_*642delTT) chr2 87012400 87012401 AA - het . 18 +intronic CD8A chr2 87015549 87015549 A G het . 13 +intergenic LOC285074(dist=73408),MIR4771-2(dist=44965) chr2 87376944 87376944 G A het . 4 +intergenic RGPD1(dist=16716),KRCC1(dist=24697) chr2 88302025 88302025 - AAAG het . 2 +intronic SMYD1 chr2 88376640 88376640 T A het . 1 +intergenic FABP1(dist=20698),THNSL2(dist=21466) chr2 88448348 88448348 A G het . 4 +intergenic THNSL2(dist=193653),FOXI3(dist=66497) chr2 88679809 88679809 C T het . 2 +intronic TEX37 chr2 88825316 88825316 T - het . 2 +intronic TEX37 chr2 88825911 88825911 C A het . 10 +intronic RPIA chr2 89034289 89034289 C A het . 5 +ncRNA_intronic ANKRD36BP2 chr2 89082318 89082318 G T het . 34 +ncRNA_intronic ANKRD36BP2 chr2 89082536 89082536 T G het . 12 +ncRNA_exonic ANKRD36BP2 chr2 89100759 89100759 A C het . 25 +ncRNA_exonic ANKRD36BP2 chr2 89100764 89100764 A G het . 23 +intergenic MIR4436A(dist=49101),NONE(dist=NONE) chr2 89161069 89161069 G C het . 20 +intergenic MIR4436A(dist=58146),NONE(dist=NONE) chr2 89170114 89170114 T C het . 3 +intergenic MIR4436A(dist=85271),NONE(dist=NONE) chr2 89197239 89197239 T C het . 29 +intergenic MIR4436A(dist=165879),NONE(dist=NONE) chr2 89277847 89277847 C T het . 2 +intergenic MIR4436A(dist=741287),LSP1P4(dist=1971454) chr2 89853255 89853255 T A het . 9 +intergenic MIR4436A(dist=996448),LSP1P4(dist=1716293) chr2 90108416 90108416 G A het . 3 +intergenic MIR4436A(dist=1183453),LSP1P4(dist=1529288) chr2 90295421 90295421 A G het . 3 +intergenic MIR4436A(dist=1373450),LSP1P4(dist=1339291) chr2 90485418 90485418 T C het . 1 +intergenic MIR4436A(dist=1373499),LSP1P4(dist=1339242) chr2 90485467 90485467 G A het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=131420) chr2 91693282 91693289 AAAAAAAA - het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=130141) chr2 91694568 91694568 T C het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=63366) chr2 91761343 91761343 A T het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=63349) chr2 91761360 91761360 A G het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=63304) chr2 91761405 91761405 A G het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=62123) chr2 91762586 91762586 C T het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=58445) chr2 91766264 91766264 T G het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=57834) chr2 91766875 91766875 A C het . 5 +intergenic NONE(dist=NONE),LSP1P4(dist=57745) chr2 91766964 91766964 T C het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=57510) chr2 91767199 91767199 A C het . 14 +intergenic NONE(dist=NONE),LSP1P4(dist=56673) chr2 91768036 91768036 T C het . 4 +intergenic NONE(dist=NONE),LSP1P4(dist=56658) chr2 91768051 91768051 T C het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=56527) chr2 91768182 91768182 C T het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=56517) chr2 91768192 91768192 A T het . 4 +intergenic NONE(dist=NONE),LSP1P4(dist=54919) chr2 91769790 91769790 G A het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=53731) chr2 91770978 91770978 A G het . 1 +intergenic NONE(dist=NONE),LSP1P4(dist=52824) chr2 91771885 91771885 G A het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=52630) chr2 91772079 91772079 G T het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=52617) chr2 91772092 91772092 T C het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=52561) chr2 91772148 91772148 C T het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=52193) chr2 91772516 91772516 G C het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=51986) chr2 91772723 91772723 T C het . 1 +intergenic NONE(dist=NONE),LSP1P4(dist=51779) chr2 91772930 91772930 A G het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=51501) chr2 91773208 91773208 G A het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=50411) chr2 91774295 91774298 CTCA - het . 4 +intergenic NONE(dist=NONE),LSP1P4(dist=49799) chr2 91774910 91774910 C G het . 10 +intergenic NONE(dist=NONE),LSP1P4(dist=49744) chr2 91774965 91774965 T C het . 6 +intergenic NONE(dist=NONE),LSP1P4(dist=49481) chr2 91775228 91775228 A G het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=49417) chr2 91775292 91775292 G A het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=48343) chr2 91776366 91776366 A G het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=48322) chr2 91776387 91776387 A G het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=48247) chr2 91776462 91776462 T C het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=48240) chr2 91776469 91776469 A T het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=47735) chr2 91776974 91776974 A C het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=47087) chr2 91777622 91777622 A G het . 1 +intergenic NONE(dist=NONE),LSP1P4(dist=46970) chr2 91777739 91777739 T A het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=46824) chr2 91777885 91777885 C A het . 11 +intergenic NONE(dist=NONE),LSP1P4(dist=46807) chr2 91777902 91777902 C T het . 19 +intergenic NONE(dist=NONE),LSP1P4(dist=46781) chr2 91777928 91777928 G T het . 24 +intergenic NONE(dist=NONE),LSP1P4(dist=46726) chr2 91777983 91777983 T C het . 8 +intergenic NONE(dist=NONE),LSP1P4(dist=46339) chr2 91778370 91778370 G A het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=44226) chr2 91780483 91780483 T C het . 1 +intergenic NONE(dist=NONE),LSP1P4(dist=43909) chr2 91780800 91780800 T C het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=41906) chr2 91782803 91782803 G A het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=41214) chr2 91783492 91783495 AAAT - het . 4 +intergenic NONE(dist=NONE),LSP1P4(dist=40505) chr2 91784204 91784204 T G het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=39920) chr2 91784789 91784789 G A het . 1 +intergenic NONE(dist=NONE),LSP1P4(dist=39898) chr2 91784811 91784811 A G het . 4 +intergenic NONE(dist=NONE),LSP1P4(dist=39739) chr2 91784970 91784970 T A het . 6 +intergenic NONE(dist=NONE),LSP1P4(dist=39286) chr2 91785423 91785423 G A het . 7 +intergenic NONE(dist=NONE),LSP1P4(dist=39175) chr2 91785532 91785534 TTT - het . 15 +intergenic NONE(dist=NONE),LSP1P4(dist=39151) chr2 91785551 91785558 TTGTTGTT - het . 22 +intergenic NONE(dist=NONE),LSP1P4(dist=39151) chr2 91785554 91785558 TTGTT - het . 9 +intergenic NONE(dist=NONE),LSP1P4(dist=39151) chr2 91785557 91785558 TT - het . 13 +intergenic NONE(dist=NONE),LSP1P4(dist=39131) chr2 91785578 91785578 T G het . 21 +intergenic NONE(dist=NONE),LSP1P4(dist=39107) chr2 91785602 91785602 T C het . 18 +intergenic NONE(dist=NONE),LSP1P4(dist=39022) chr2 91785687 91785687 T C het . 8 +intergenic NONE(dist=NONE),LSP1P4(dist=36891) chr2 91787818 91787818 T - het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=34293) chr2 91790416 91790416 A G het . 5 +intergenic NONE(dist=NONE),LSP1P4(dist=33949) chr2 91790760 91790760 A - het . 6 +intergenic NONE(dist=NONE),LSP1P4(dist=33916) chr2 91790793 91790793 C A het . 13 +intergenic NONE(dist=NONE),LSP1P4(dist=33651) chr2 91791058 91791058 G A het . 21 +intergenic NONE(dist=NONE),LSP1P4(dist=33333) chr2 91791376 91791376 G C het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=31665) chr2 91793044 91793044 T C het . 4 +intergenic NONE(dist=NONE),LSP1P4(dist=29899) chr2 91794810 91794810 A T het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=29475) chr2 91795234 91795234 A C het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=29111) chr2 91795594 91795598 CAACT - het . 49 +intergenic NONE(dist=NONE),LSP1P4(dist=29034) chr2 91795675 91795675 A G het . 25 +intergenic NONE(dist=NONE),LSP1P4(dist=28970) chr2 91795739 91795739 T C het . 8 +intergenic NONE(dist=NONE),LSP1P4(dist=26138) chr2 91798571 91798571 T C het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=24674) chr2 91800035 91800035 T C het . 4 +intergenic NONE(dist=NONE),LSP1P4(dist=24554) chr2 91800155 91800155 G A het . 10 +intergenic NONE(dist=NONE),LSP1P4(dist=24498) chr2 91800211 91800211 A T het . 32 +intergenic NONE(dist=NONE),LSP1P4(dist=24362) chr2 91800347 91800347 G A het . 17 +intergenic NONE(dist=NONE),LSP1P4(dist=24329) chr2 91800380 91800380 T C het . 11 +intergenic NONE(dist=NONE),LSP1P4(dist=24300) chr2 91800409 91800409 T C het . 18 +intergenic NONE(dist=NONE),LSP1P4(dist=24264) chr2 91800445 91800445 G A het . 27 +intergenic NONE(dist=NONE),LSP1P4(dist=24218) chr2 91800491 91800491 T A het . 27 +intergenic NONE(dist=NONE),LSP1P4(dist=23994) chr2 91800715 91800715 A G het . 31 +intergenic NONE(dist=NONE),LSP1P4(dist=23877) chr2 91800832 91800832 C T het . 32 +intergenic NONE(dist=NONE),LSP1P4(dist=23846) chr2 91800863 91800863 T G het . 31 +intergenic NONE(dist=NONE),LSP1P4(dist=23819) chr2 91800890 91800890 G A het . 26 +intergenic NONE(dist=NONE),LSP1P4(dist=23770) chr2 91800939 91800939 T C het . 20 +intergenic NONE(dist=NONE),LSP1P4(dist=23749) chr2 91800960 91800960 G C het . 22 +intergenic NONE(dist=NONE),LSP1P4(dist=22043) chr2 91802666 91802666 C G het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=22027) chr2 91802682 91802682 C T het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=19217) chr2 91805492 91805492 C T het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=19175) chr2 91805534 91805534 T C het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=18893) chr2 91805816 91805816 G A het . 4 +intergenic NONE(dist=NONE),LSP1P4(dist=18876) chr2 91805833 91805833 A G het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=16062) chr2 91808647 91808647 G A het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=15922) chr2 91808787 91808787 A G het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=10932) chr2 91813777 91813777 C G het . 1 +intergenic NONE(dist=NONE),LSP1P4(dist=9014) chr2 91815695 91815695 A G het . 5 +intergenic NONE(dist=NONE),LSP1P4(dist=8909) chr2 91815800 91815800 A G het . 4 +intergenic NONE(dist=NONE),LSP1P4(dist=7709) chr2 91817000 91817000 G T het . 5 +intergenic NONE(dist=NONE),LSP1P4(dist=6862) chr2 91817847 91817847 - TTAC het . 2 +intergenic NONE(dist=NONE),LSP1P4(dist=5456) chr2 91819253 91819253 C T het . 3 +intergenic NONE(dist=NONE),LSP1P4(dist=4505) chr2 91820204 91820204 T G het . 4 +intergenic NONE(dist=NONE),LSP1P4(dist=4475) chr2 91820234 91820234 C A het . 4 +intergenic NONE(dist=NONE),LSP1P4(dist=3368) chr2 91821341 91821341 A G het . 5 +intergenic LSP1P4(dist=34943),LOC101927050(dist=4793) chr2 91882918 91882921 TTTT - het . 2 +intergenic LSP1P4(dist=34954),LOC101927050(dist=4785) chr2 91882929 91882929 T C het . 2 +intergenic LSP1P4(dist=34966),LOC101927050(dist=4773) chr2 91882941 91882941 C T het . 2 +intergenic LOC101927050(dist=17266),GGT8P(dist=45966) chr2 91917402 91917402 G A het . 5 +intergenic ACTR3BP2(dist=111364),NONE(dist=NONE) chr2 92241860 92241860 T C het . 6 +intergenic ACTR3BP2(dist=111390),NONE(dist=NONE) chr2 92241886 92241886 T C het . 12 +intergenic ACTR3BP2(dist=111394),NONE(dist=NONE) chr2 92241890 92241890 C T het . 12 +intergenic ACTR3BP2(dist=150830),NONE(dist=NONE) chr2 92281326 92281327 GG AT het . 19 +intergenic ACTR3BP2(dist=150831),NONE(dist=NONE) chr2 92281327 92281327 G T het . 15 +intergenic ACTR3BP2(dist=150837),NONE(dist=NONE) chr2 92281333 92281333 G A het . 19 +intergenic ACTR3BP2(dist=150846),NONE(dist=NONE) chr2 92281342 92281343 AT CG het . 19 +intergenic ACTR3BP2(dist=150859),NONE(dist=NONE) chr2 92281355 92281355 T C het . 19 +intergenic ACTR3BP2(dist=150863),NONE(dist=NONE) chr2 92281359 92281359 G C het . 19 +intergenic ACTR3BP2(dist=150887),NONE(dist=NONE) chr2 92281383 92281383 C T het . 3 +intergenic ACTR3BP2(dist=153867),NONE(dist=NONE) chr2 92284363 92284363 G A het . 4 +intergenic ACTR3BP2(dist=153881),NONE(dist=NONE) chr2 92284377 92284377 A T het . 3 +intergenic ACTR3BP2(dist=160433),NONE(dist=NONE) chr2 92290929 92290929 C A het . 4 +intergenic ACTR3BP2(dist=166348),NONE(dist=NONE) chr2 92296844 92296844 A G het . 7 +intergenic ACTR3BP2(dist=166388),NONE(dist=NONE) chr2 92296884 92296884 C A het . 10 +intergenic ACTR3BP2(dist=166390),NONE(dist=NONE) chr2 92296886 92296886 A G het . 10 +intergenic ACTR3BP2(dist=166610),NONE(dist=NONE) chr2 92297106 92297106 G T het . 2 +intergenic ACTR3BP2(dist=166612),NONE(dist=NONE) chr2 92297108 92297108 A G het . 2 +intergenic ACTR3BP2(dist=166625),NONE(dist=NONE) chr2 92297121 92297121 A G het . 3 +intergenic ACTR3BP2(dist=175220),NONE(dist=NONE) chr2 92305716 92305716 A C het . 5 +intergenic ACTR3BP2(dist=175223),NONE(dist=NONE) chr2 92305719 92305719 C T het . 5 +intergenic ACTR3BP2(dist=175286),NONE(dist=NONE) chr2 92305782 92305782 G C het . 10 +intergenic ACTR3BP2(dist=175296),NONE(dist=NONE) chr2 92305792 92305792 T A het . 10 +intergenic ACTR3BP2(dist=175300),NONE(dist=NONE) chr2 92305796 92305796 T G het . 10 +intergenic ACTR3BP2(dist=175326),NONE(dist=NONE) chr2 92305822 92305822 G A het . 5 +intergenic ACTR3BP2(dist=175328),NONE(dist=NONE) chr2 92305824 92305824 T G het . 5 +intergenic ACTR3BP2(dist=175631),NONE(dist=NONE) chr2 92306127 92306127 A G het . 2 +intergenic ACTR3BP2(dist=175634),NONE(dist=NONE) chr2 92306130 92306130 C G het . 2 +intergenic ACTR3BP2(dist=175639),NONE(dist=NONE) chr2 92306135 92306135 G A het . 2 +intergenic ACTR3BP2(dist=186839),NONE(dist=NONE) chr2 92317335 92317335 T G het . 4 +intergenic ACTR3BP2(dist=186865),NONE(dist=NONE) chr2 92317361 92317361 C - het . 5 +intergenic ACTR3BP2(dist=186867),NONE(dist=NONE) chr2 92317363 92317363 G A het . 5 +intergenic ACTR3BP2(dist=186877),NONE(dist=NONE) chr2 92317373 92317373 T C het . 4 +intergenic ACTR3BP2(dist=186895),NONE(dist=NONE) chr2 92317391 92317392 GT TC het . 3 +intergenic ACTR3BP2(dist=186906),NONE(dist=NONE) chr2 92317402 92317402 T C het . 3 +intergenic ACTR3BP2(dist=186908),NONE(dist=NONE) chr2 92317404 92317404 T C het . 3 +intergenic ACTR3BP2(dist=189949),NONE(dist=NONE) chr2 92320445 92320445 T C het . 3 +ncRNA_intronic LOC442028 chr2 95605243 95605243 C A het . 5 +intronic MAL chr2 95692774 95692774 G A het . 2 +downstream PROM2(dist=722) chr2 95957777 95957777 G A het . 2 +intronic KCNIP3 chr2 95988592 95988592 C T het . 2 +intronic KCNIP3 chr2 96006086 96006086 - AAAC het . 7 +intergenic TRIM43B(dist=93308),TRIM43(dist=13979) chr2 96243787 96243787 - A het . 6 +intergenic TRIM43(dist=140129),LINC00342(dist=67152) chr2 96405648 96405648 G A het . 2 +downstream ANKRD36C(dist=688) chr2 96514608 96514608 A - het . 21 +exonic ANKRD36C chr2 96525640 96525640 G T het . 25 +exonic ANKRD36C chr2 96525643 96525643 T C het . 26 +exonic ANKRD36C chr2 96525652 96525652 T C het . 26 +exonic ANKRD36C chr2 96525659 96525659 C T het . 26 +intronic ANKRD36C chr2 96526704 96526706 AAC - het . 3 +intronic ANKRD36C chr2 96617023 96617023 C A het . 8 +intronic ANKRD36C chr2 96617025 96617025 C A het . 8 +intronic ANKRD36C chr2 96617039 96617039 A C het . 9 +ncRNA_intronic FAHD2CP chr2 96684876 96684876 A G het . 4 +ncRNA_exonic FAHD2CP chr2 96687157 96687157 C A het . 11 +upstream SNRNP200(dist=48) chr2 96971355 96971355 T C het . 5 +intronic ITPRIPL1 chr2 96991647 96991647 T G het . 8 +exonic ITPRIPL1 chr2 96993974 96993974 G A het . 11 +intronic NCAPH chr2 97014447 97014447 G A het . 2 +intergenic NCAPH(dist=26925),NEURL3(dist=93620) chr2 97069758 97069760 CTT - het . 2 +exonic KANSL3 chr2 97276476 97276476 C A het . 12 +exonic CNNM4 chr2 97427869 97427869 C A het . 18 +intronic CNNM4 chr2 97464972 97464972 G A het . 13 +intronic CNNM3 chr2 97492479 97492479 G A het . 2 +intronic SEMA4C chr2 97529360 97529360 T A het . 3 +intronic FAM178B chr2 97544089 97544089 G C het . 9 +intronic FAM178B chr2 97595109 97595109 T C het . 3 +intronic FAM178B chr2 97600916 97600916 C A het . 2 +intergenic FAM178B(dist=26793),FAHD2B(dist=70229) chr2 97679094 97679094 T C het . 1 +intergenic FAM178B(dist=41665),FAHD2B(dist=55357) chr2 97693966 97693966 A G het . 20 +intronic ANKRD36 chr2 97827787 97827787 G A het . 7 +intronic ANKRD36 chr2 97827790 97827790 T C het . 7 +intronic ANKRD36 chr2 97827800 97827800 A G het . 9 +exonic ANKRD36 chr2 97827839 97827839 G A het . 12 +intronic ANKRD36 chr2 97833553 97833553 C T het . 2 +intronic ANKRD36 chr2 97833567 97833567 A G het . 5 +intronic ANKRD36 chr2 97833569 97833569 C T het . 5 +intronic ANKRD36 chr2 97833583 97833583 C T het . 8 +intronic ANKRD36 chr2 97860529 97860529 G A het . 6 +exonic ANKRD36B chr2 98165911 98165911 T C het . 13 +exonic ANKRD36B chr2 98165947 98165947 C A het . 31 +intronic ANKRD36B chr2 98169185 98169185 A C het . 2 +intronic ANKRD36B chr2 98169192 98169192 G T het . 2 +intronic ANKRD36B chr2 98169198 98169198 C T het . 2 +intergenic ANKRD36B(dist=47992),COX5B(dist=8101) chr2 98254420 98254420 C T het . 2 +intronic ZAP70 chr2 98351986 98351986 T C het . 1 +exonic TMEM131 chr2 98409006 98409006 A C het . 7 +exonic TMEM131 chr2 98409012 98409012 T G het . 5 +intronic TMEM131 chr2 98475979 98475979 C T het . 10 +intergenic TMEM131(dist=82507),VWA3B(dist=8734) chr2 98694861 98694861 A G het . 1 +intronic VWA3B chr2 98872663 98872663 T - het . 15 +intronic VWA3B chr2 98887116 98887116 G C het . 14 +intronic CNGA3 chr2 98994414 98994414 T C het . 7 +intronic UNC50 chr2 99234586 99234586 - T het . 12 +intronic KIAA1211L chr2 99464530 99464530 C T het . 2 +intergenic KIAA1211L(dist=21640),TSGA10(dist=39400) chr2 99574324 99574324 T C het . 1 +exonic TSGA10 chr2 99636771 99636771 C A het . 36 +intronic TSGA10 chr2 99721805 99721806 TT - het . 7 +exonic LYG1 chr2 99909001 99909001 C A het . 18 +intronic TXNDC9 chr2 99936266 99936267 AA - het . 16 +intronic EIF5B chr2 100002065 100002065 G A het . 2 +intronic EIF5B chr2 100006890 100006890 G T het . 8 +intronic EIF5B chr2 100006904 100006904 - A het . 8 +intronic EIF5B chr2 100010685 100010685 A G het . 5 +intronic REV1 chr2 100017906 100017906 - A het . 6 +exonic REV1 chr2 100019496 100019496 A G het . 24 +intronic REV1 chr2 100079144 100079144 A - het . 7 +intronic REV1 chr2 100081317 100081317 T C het . 12 +intronic REV1 chr2 100081323 100081323 C T het . 12 +intergenic REV1(dist=42818),AFF3(dist=14380) chr2 100149336 100149336 T C het . 3 +intronic AFF3 chr2 100245107 100245107 T C het . 2 +intronic AFF3 chr2 100266186 100266186 C A het . 15 +intronic AFF3 chr2 100316586 100316586 T - het . 3 +intronic AFF3 chr2 100377321 100377321 T C het . 2 +intronic AFF3 chr2 100608135 100608135 C A het . 2 +intronic AFF3 chr2 100671941 100671941 G A het . 5 +ncRNA_intronic LINC01104 chr2 100862903 100862903 C T het . 3 +intergenic LONRF2(dist=32583),CHST10(dist=36544) chr2 100971778 100971778 C T het . 1 +intronic TBC1D8 chr2 101640086 101640086 - T het . 14 +intronic TBC1D8 chr2 101655133 101655133 C A het . 15 +intronic TBC1D8 chr2 101684871 101684871 G A het . 2 +intronic TBC1D8 chr2 101690336 101690336 T C het . 2 +intergenic TBC1D8-AS1(dist=67575),CNOT11(dist=29896) chr2 101839449 101839449 T - het . 2 +intronic CNOT11 chr2 101881549 101881549 A T het . 4 +intronic RFX8 chr2 102031815 102031815 T C het . 1 +intronic RFX8 chr2 102033867 102033867 T C het . 2 +intronic RFX8 chr2 102038154 102038154 A C het . 12 +intronic RFX8 chr2 102055427 102055427 C T het . 2 +intronic MAP4K4 chr2 102320512 102320512 A C het . 1 +intronic MAP4K4 chr2 102450854 102450854 C A het . 28 +intronic MAP4K4 chr2 102475380 102475380 G A het . 5 +intronic IL1R2 chr2 102642558 102642558 - T het . 16 +intronic IL1R1 chr2 102775155 102775155 G A het . 2 +intronic IL1R1 chr2 102782433 102782433 T A het . 3 +intronic IL1R1 chr2 102785158 102785158 G T het . 8 +intronic IL1RL1 chr2 102959416 102959416 - T het . 12 +intronic IL18RAP chr2 103040247 103040247 - G het . 25 +intronic IL18RAP chr2 103040249 103040249 C T het . 25 +intronic SLC9A4 chr2 103141447 103141447 A G het . 2 +intronic SLC9A2 chr2 103243608 103243613 AACAAT - het . 2 +intronic SLC9A2 chr2 103311441 103311441 A T het . 12 +intronic MFSD9 chr2 103340535 103340535 T C het . 1 +intronic MFSD9 chr2 103340541 103340541 T C het . 2 +intronic MFSD9 chr2 103349002 103349002 T C het . 6 +intronic TMEM182 chr2 103358648 103358648 G T het . 2 +UTR5 TMEM182(NM_144632:c.-95_-92del-) chr2 103378582 103378585 TTTT - het . 8 +intronic TMEM182 chr2 103394261 103394261 A C het . 2 +intergenic LINC01935(dist=212728),LOC100287010(dist=1181693) chr2 103813615 103813615 C G het . 1 +intergenic LINC01831(dist=3999),LINC01102(dist=16317) chr2 105034488 105034488 - T het . 4 +ncRNA_intronic LINC01102 chr2 105064563 105064563 A C het . 2 +intergenic LINC01102(dist=165576),LINC01114(dist=68303) chr2 105294791 105294792 CA - het . 3 +intergenic LINC01102(dist=219298),LINC01114(dist=14582) chr2 105348513 105348513 C T het . 2 +ncRNA_intronic PANTR1 chr2 105454090 105454090 - A het . 2 +intronic MRPS9 chr2 105698759 105698759 T C het . 2 +intergenic UTAT33(dist=21625),LINC01918(dist=19544) chr2 105741027 105741027 G C het . 1 +intronic TGFBRAP1 chr2 105897261 105897261 C T het . 3 +intronic TGFBRAP1 chr2 105924017 105924017 C T het . 1 +intronic TGFBRAP1 chr2 105937629 105937629 T A het . 2 +intronic FHL2 chr2 106007256 106007256 T - het . 2 +intronic FHL2 chr2 106007269 106007269 T G het . 2 +intronic FHL2 chr2 106011038 106011038 G A het . 3 +intergenic FHL2(dist=46978),LOC285000(dist=107346) chr2 106102208 106102208 C A het . 2 +intergenic FHL2(dist=130266),LOC285000(dist=24058) chr2 106185496 106185496 T - het . 3 +intergenic FHL2(dist=138033),LOC285000(dist=16291) chr2 106193263 106193263 C T het . 2 +intergenic FHL2(dist=146455),LOC285000(dist=7869) chr2 106201685 106201685 - AA het . 3 +intergenic LOC285000(dist=12921),NCK2(dist=121583) chr2 106239937 106239937 - AAAG het . 2 +intergenic LOC285000(dist=58735),NCK2(dist=75769) chr2 106285751 106285751 C T het . 3 +intergenic LOC285000(dist=58740),NCK2(dist=75764) chr2 106285756 106285756 G A het . 3 +intronic NCK2 chr2 106471825 106471825 - A het . 2 +intergenic NCK2(dist=133463),C2orf40(dist=37920) chr2 106644193 106644193 A G het . 3 +intergenic NCK2(dist=133479),C2orf40(dist=37904) chr2 106644209 106644209 A G het . 4 +intergenic NCK2(dist=138468),C2orf40(dist=32915) chr2 106649198 106649198 G A het . 1 +intergenic NCK2(dist=145126),C2orf40(dist=26257) chr2 106655856 106655856 T A het . 3 +intronic UXS1 chr2 106742177 106742177 T A het . 3 +intronic UXS1 chr2 106780055 106780055 - TG het . 17 +UTR5 UXS1(NM_001253875:c.-30T>C,NM_025076:c.-30T>C) chr2 106810727 106810727 A G het . 3 +intronic RGPD3 chr2 107057701 107057701 G A het . 9 +intergenic CD8B2(dist=8590),ST6GAL2(dist=281915) chr2 107136141 107136141 G T het . 3 +intergenic CD8B2(dist=204590),ST6GAL2(dist=85915) chr2 107332141 107332141 C T het . 1 +intronic ST6GAL2 chr2 107449321 107449321 A T het . 10 +intergenic ST6GAL2(dist=54450),MIR548AU(dist=208108) chr2 107558013 107558013 G A het . 2 +ncRNA_intronic MIR548AU chr2 107936035 107936035 T - het . 3 +intergenic MIR548AU(dist=126359),LINC01886(dist=53535) chr2 108092340 108092340 - AAAAA het . 1 +intergenic MIR548AU(dist=126376),LINC01886(dist=53518) chr2 108092357 108092357 C - het . 1 +intergenic MIR548AU(dist=137379),LINC01886(dist=42515) chr2 108103360 108103360 T C het . 4 +intergenic MIR548AU(dist=137421),LINC01886(dist=42473) chr2 108103402 108103402 A G het . 5 +intergenic RGPD4(dist=28213),SLC5A7(dist=65757) chr2 108537213 108537213 T - het . 3 +intergenic RGPD4(dist=28335),SLC5A7(dist=65635) chr2 108537335 108537335 A G het . 14 +intergenic RGPD4(dist=28374),SLC5A7(dist=65596) chr2 108537374 108537374 G T het . 6 +exonic SLC5A7 chr2 108625133 108625133 C A het . 18 +intergenic LINC01593(dist=46170),LINC01594(dist=68822) chr2 108715381 108715382 AG - het . 2 +intronic SULT1C3 chr2 108867838 108867838 T C het . 2 +exonic SULT1C2 chr2 108924838 108924838 C A het . 21 +intronic RANBP2 chr2 109371850 109371850 T - het . 13 +intronic CCDC138 chr2 109404474 109404474 - T het . 13 +exonic CCDC138 chr2 109414991 109414991 A G het . 26 +intronic CCDC138 chr2 109431904 109431904 G A het . 2 +intronic EDAR chr2 109513786 109513786 A T het . 14 +intronic EDAR chr2 109595121 109595121 G A het . 1 +intronic SH3RF3 chr2 110091420 110091420 G T het . 2 +exonic SEPT10 chr2 110343382 110343382 C T het . 26 +intergenic SOWAHC(dist=29858),RGPD6(dist=143913) chr2 110406422 110406422 G T het . 2 +intronic NPHP1 chr2 110896262 110896262 C T het . 2 +intronic NPHP1 chr2 110922487 110922487 C A het . 24 +intronic BUB1 chr2 111416113 111416113 G A het . 14 +exonic BUB1 chr2 111425226 111425226 G A het . 22 +exonic BUB1 chr2 111430434 111430434 C A het . 4 +intergenic BUB1(dist=41094),ACOXL(dist=13372) chr2 111476778 111476778 G A het . 1 +intronic ACOXL chr2 111562983 111562983 C T het . 7 +intronic ACOXL chr2 111627300 111627300 G A het . 2 +intronic ACOXL chr2 111627319 111627319 G T het . 1 +intronic ACOXL chr2 111721180 111721180 G T het . 9 +intronic ACOXL chr2 111742329 111742329 T A het . 1 +intronic ACOXL chr2 111806686 111806686 C A het . 4 +intronic ACOXL chr2 111833042 111833042 - TCTT het . 2 +intronic ACOXL chr2 111850215 111850215 G A het . 1 +intergenic BCL2L11(dist=2351),MIR4435-2HG(dist=25071) chr2 111928373 111928373 A C het . 2 +intronic MERTK chr2 112725684 112725684 - TGTGTG het . 11 +intronic MERTK chr2 112736723 112736723 T G het . 2 +intronic MERTK chr2 112740597 112740597 A - het . 14 +intronic MERTK chr2 112740598 112740598 T G het . 14 +exonic TMEM87B chr2 112832536 112832538 AAT - het . 19 +intronic ZC3H6 chr2 113048297 113048297 G C het . 1 +exonic ZC3H6 chr2 113057459 113057459 C G het . 23 +intronic POLR1B chr2 113305756 113305756 G A het . 1 +intronic POLR1B chr2 113307115 113307115 C T het . 2 +intronic POLR1B chr2 113310198 113310198 T - het . 8 +intronic POLR1B chr2 113312044 113312044 A C het . 1 +UTR3 CHCHD5(NM_032309:c.*46A>C,NM_001304353:c.*46A>C,NM_001304354:c.*46A>C) chr2 113346512 113346512 A C het . 5 +intronic NT5DC4 chr2 113479746 113479746 C - het . 9 +intronic NT5DC4 chr2 113481547 113481547 A G het . 5 +UTR3 NT5DC4(NM_001350494:c.*219C>A) chr2 113500246 113500246 C A het . 23 +UTR3 IL1A(NM_000575:c.*17G>T) chr2 113532627 113532627 C A het . 16 +intronic IL1A chr2 113541410 113541410 C A het . 8 +intronic IL1B chr2 113593728 113593728 C A het . 11 +intergenic IL37(dist=55805),IL36G(dist=3333) chr2 113732263 113732263 A G het . 1 +UTR5 IL36B(NM_014438:c.-30G>A,NM_173178:c.-30G>A) chr2 113789316 113789316 C T het . 13 +intergenic IL1F10(dist=16410),IL1RN(dist=25633) chr2 113849837 113849837 C T het . 2 +intergenic IL1F10(dist=16430),IL1RN(dist=25613) chr2 113849857 113849857 C A het . 1 +intergenic IL1F10(dist=36550),IL1RN(dist=5493) chr2 113869977 113869977 T C het . 1 +intergenic IL1F10(dist=36572),IL1RN(dist=5471) chr2 113869999 113869999 T C het . 1 +ncRNA_intronic PAX8-AS1 chr2 113994417 113994417 G T het . 2 +intronic PAX8 chr2 114028433 114028433 A - het . 2 +intronic CBWD2 chr2 114210818 114210818 T - het . 29 +ncRNA_intronic ACTR3-AS1 chr2 114600012 114600012 A G het . 2 +intronic ACTR3 chr2 114691810 114691810 T - het . 6 +intergenic LINC01191(dist=41260),DPP10(dist=373015) chr2 114826919 114826920 AC - het . 2 +intergenic LINC01191(dist=200505),DPP10(dist=213771) chr2 114986164 114986164 G T het . 2 +intergenic LINC01191(dist=200508),DPP10(dist=213768) chr2 114986167 114986167 T G het . 2 +intergenic LINC01191(dist=204815),DPP10(dist=209461) chr2 114990474 114990474 - TC het . 2 +intergenic LINC01191(dist=368446),DPP10(dist=45829) chr2 115154105 115154106 CT TC het . 2 +intronic DPP10 chr2 115213306 115213306 - T het . 2 +intronic DPP10 chr2 115213331 115213331 A C het . 2 +intronic DPP10 chr2 115780917 115780917 - A het . 2 +intronic DPP10 chr2 115826120 115826120 C T het . 2 +intronic DPP10 chr2 115919677 115919678 CT GC het . 3 +intronic DPP10 chr2 115999654 115999654 T G het . 2 +intronic DPP10 chr2 116098839 116098839 T - het . 2 +intronic DPP10 chr2 116141985 116141990 AGAAGA - het . 3 +intronic DPP10 chr2 116335387 116335387 C T het . 1 +intronic DPP10 chr2 116380416 116380416 - G het . 2 +intronic DPP10 chr2 116434539 116434539 T C het . 1 +intronic DPP10 chr2 116451841 116451845 TACTT - het . 3 +intronic DPP10 chr2 116453722 116453722 A G het . 2 +intronic DPP10 chr2 116473019 116473019 A T het . 2 +intronic DPP10 chr2 116519966 116519966 T - het . 10 +intronic DPP10 chr2 116533139 116533139 C A het . 2 +intronic DPP10 chr2 116593676 116593679 TGTG - het . 3 +intronic DPP10 chr2 116593696 116593697 AT - het . 5 +intronic DPP10 chr2 116597894 116597895 GG TT het . 1 +UTR3 DPP10(NM_020868:c.*6T>C,NM_001321910:c.*6T>C,NM_001321907:c.*6T>C,NM_001321905:c.*6T>C,NM_001178036:c.*6T>C,NM_001321912:c.*127T>C,NM_001321908:c.*6T>C,NM_001321911:c.*6T>C,NM_001178037:c.*6T>C,NM_001321914:c.*6T>C,NM_001321906:c.*6T>C,NM_001178034:c.*6T>C,NM_001321909:c.*6T>C,NM_001004360:c.*6T>C,NM_001321913:c.*6T>C) chr2 116599927 116599927 T C het . 5 +intergenic DPP10(dist=22511),DDX18(dist=1946416) chr2 116625839 116625839 C T het . 2 +intergenic DPP10(dist=194075),DDX18(dist=1774852) chr2 116797403 116797403 C T het . 4 +intergenic DPP10(dist=194129),DDX18(dist=1774798) chr2 116797457 116797457 C T het . 12 +intergenic DPP10(dist=465622),DDX18(dist=1503305) chr2 117068950 117068950 T C het . 3 +intergenic DPP10(dist=515874),DDX18(dist=1453053) chr2 117119202 117119202 C T het . 2 +intergenic DPP10(dist=675069),DDX18(dist=1293858) chr2 117278397 117278397 C A het . 1 +intergenic DPP10(dist=675072),DDX18(dist=1293855) chr2 117278400 117278400 G A het . 1 +intergenic DPP10(dist=888654),DDX18(dist=1080273) chr2 117491982 117491982 T - het . 3 +intergenic DPP10(dist=1128864),DDX18(dist=840063) chr2 117732192 117732192 C A het . 2 +intergenic DPP10(dist=1211972),DDX18(dist=756944) chr2 117815300 117815311 TTCTTTCCTTCT - het . 2 +intergenic DPP10(dist=1348919),DDX18(dist=620008) chr2 117952247 117952247 C G het . 1 +intergenic DPP10(dist=1442775),DDX18(dist=526152) chr2 118046103 118046103 T G het . 2 +intergenic DPP10(dist=1472862),DDX18(dist=496065) chr2 118076190 118076190 G A het . 2 +intronic CCDC93 chr2 118753148 118753148 - TC het . 9 +intronic CCDC93 chr2 118764242 118764242 - A het . 12 +intronic CCDC93 chr2 118764527 118764527 T A het . 6 +intronic CCDC93 chr2 118766024 118766024 A G het . 6 +intergenic THORLNC(dist=101147),LOC101927709(dist=312250) chr2 119045109 119045109 C T het . 2 +intergenic LOC101927709(dist=194516),EN1(dist=44689) chr2 119555058 119555058 T G het . 2 +intergenic EN1(dist=15200),MARCO(dist=78786) chr2 119620959 119620959 T - het . 2 +intergenic EN1(dist=15203),MARCO(dist=78783) chr2 119620962 119620962 T C het . 2 +intergenic EN1(dist=36234),MARCO(dist=57752) chr2 119641993 119641993 G A het . 5 +intronic MARCO chr2 119739128 119739128 T - het . 14 +intronic MARCO chr2 119748136 119748136 C - het . 5 +intronic MARCO chr2 119748143 119748143 C G het . 5 +intergenic MARCO(dist=59823),C1QL2(dist=101760) chr2 119812059 119812059 - G het . 2 +intergenic STEAP3(dist=14611),C2orf76(dist=21955) chr2 120037838 120037838 - TGTT het . 4 +UTR3 C2orf76(NM_001322330:c.*152_*153insTTTC,NM_001322329:c.*152_*153insTTTC,NM_001322332:c.*152_*153insTTTC,NM_001322331:c.*152_*153insTTTC,NM_001017927:c.*152_*153insTTTC) chr2 120059895 120059895 - GAAA het . 1 +exonic C2orf76 chr2 120078778 120078778 T C het . 19 +intronic SCTR chr2 120210949 120210949 G A het . 21 +intronic SCTR chr2 120277443 120277443 A C het . 2 +intronic CFAP221 chr2 120317648 120317648 G T het . 7 +intronic CFAP221 chr2 120340739 120340739 A G het . 4 +intronic CFAP221 chr2 120366057 120366057 - T het . 9 +intronic CFAP221 chr2 120404630 120404630 T - het . 6 +intergenic TMEM177(dist=17663),PTPN4(dist=59850) chr2 120457357 120457357 C A het . 5 +intergenic TMEM177(dist=27718),PTPN4(dist=49795) chr2 120467412 120467412 C A het . 2 +intergenic TMEM177(dist=51444),PTPN4(dist=26069) chr2 120491138 120491138 G A het . 2 +intronic PTPN4 chr2 120620093 120620093 T - het . 5 +intronic PTPN4 chr2 120704164 120704164 - T het . 26 +intronic PTPN4 chr2 120704166 120704166 G T het . 26 +exonic PTPN4 chr2 120714430 120714430 G T het . 12 +intronic PTPN4 chr2 120715208 120715208 A - het . 4 +intronic PTPN4 chr2 120720030 120720030 - A het . 4 +exonic PTPN4 chr2 120725525 120725525 C A het . 16 +intronic PTPN4 chr2 120734351 120734351 C A het . 4 +UTR3 PTPN4(NM_002830:c.*3858G>A) chr2 120738504 120738504 G A het . 2 +intergenic PTPN4(dist=20004),EPB41L5(dist=8126) chr2 120762478 120762478 - TTA het . 2 +intronic EPB41L5 chr2 120774036 120774036 G A het . 1 +intronic EPB41L5 chr2 120774841 120774841 C G het . 3 +intronic EPB41L5 chr2 120830815 120830815 A G het . 26 +intronic EPB41L5 chr2 120875372 120875372 A C het . 2 +intronic EPB41L5 chr2 120889173 120889173 G C het . 9 +intronic EPB41L5 chr2 120918585 120918585 A C het . 12 +intronic EPB41L5 chr2 120921532 120921532 C T het . 4 +intronic EPB41L5 chr2 120921536 120921536 - TTTTA het . 4 +intronic RALB chr2 121038291 121038291 A - het . 5 +intronic RALB chr2 121038611 121038611 C T het . 6 +intronic RALB chr2 121043403 121043403 G A het . 4 +intergenic LINC01101(dist=11835),GLI2(dist=319107) chr2 121235760 121235760 T C het . 1 +intronic GLI2 chr2 121684663 121684663 C G het . 2 +intronic GLI2 chr2 121712729 121712729 C T het . 4 +intergenic GLI2(dist=192248),TFCP2L1(dist=31687) chr2 121942477 121942477 T C het . 1 +intronic TFCP2L1 chr2 121981986 121981986 G A het . 16 +intronic TFCP2L1 chr2 121982011 121982011 T A het . 10 +intergenic TFCP2L1(dist=38925),CLASP1(dist=13648) chr2 122081703 122081704 TT - het . 2 +exonic CLASP1 chr2 122106099 122106099 C A het . 17 +intronic CLASP1 chr2 122155805 122155805 C A het . 8 +intronic CLASP1 chr2 122208588 122208588 C A het . 15 +intronic CLASP1 chr2 122303488 122303488 - A het . 2 +intergenic TSN(dist=123229),LINC01826(dist=1175075) chr2 122648657 122648657 C T het . 2 +intergenic TSN(dist=797801),LINC01826(dist=500503) chr2 123323229 123323229 G A het . 2 +intergenic TSN(dist=816771),LINC01826(dist=481533) chr2 123342199 123342199 A G het . 2 +intergenic TSN(dist=904425),LINC01826(dist=393879) chr2 123429853 123429853 T A het . 2 +intergenic TSN(dist=1227654),LINC01826(dist=70650) chr2 123753082 123753082 C A het . 3 +intergenic TSN(dist=1288379),LINC01826(dist=9925) chr2 123813807 123813807 C A het . 2 +intergenic LINC01826(dist=18827),LOC107985820(dist=919628) chr2 123849884 123849884 A T het . 2 +intergenic LINC01826(dist=90478),LOC107985820(dist=847977) chr2 123921535 123921535 G T het . 2 +intergenic LINC01826(dist=116550),LOC107985820(dist=821905) chr2 123947607 123947607 A C het . 2 +intergenic LINC01826(dist=394145),LOC107985820(dist=544310) chr2 124225202 124225202 C T het . 1 +intergenic LINC01826(dist=495681),LOC107985820(dist=442774) chr2 124326738 124326738 C T het . 2 +intronic CNTNAP5 chr2 125219437 125219437 - A het . 4 +intronic CNTNAP5 chr2 125219450 125219450 - A het . 4 +intronic CNTNAP5 chr2 125372744 125372744 C T het . 2 +intronic CNTNAP5 chr2 125406295 125406295 G C het . 2 +intronic CNTNAP5 chr2 125650506 125650506 C T het . 1 +intronic CNTNAP5 chr2 125668987 125668987 G A het . 11 +intergenic CNTNAP5(dist=662589),LINC01941(dist=532134) chr2 126335543 126335543 A G het . 2 +intergenic CNTNAP5(dist=666275),LINC01941(dist=528448) chr2 126339229 126339229 T C het . 3 +intergenic CNTNAP5(dist=726992),LINC01941(dist=467728) chr2 126399946 126399949 AAAT - het . 2 +intergenic CNTNAP5(dist=834549),LINC01941(dist=360174) chr2 126507503 126507503 T G het . 3 +intergenic CNTNAP5(dist=847948),LINC01941(dist=346775) chr2 126520902 126520902 T G het . 2 +exonic GYPC chr2 127413849 127413849 A G het . 26 +intergenic GYPC(dist=79297),TEX51(dist=122914) chr2 127533548 127533548 A - het . 2 +intergenic GYPC(dist=119271),TEX51(dist=82940) chr2 127573522 127573522 A - het . 5 +intergenic GYPC(dist=171393),TEX51(dist=30818) chr2 127625644 127625644 - A het . 2 +intronic CYP27C1 chr2 127951797 127951797 C T het . 2 +intronic ERCC3 chr2 128034533 128034533 T A het . 1 +intronic ERCC3 chr2 128034539 128034539 A G het . 2 +intronic MAP3K2 chr2 128075624 128075624 - T het . 5 +exonic MAP3K2 chr2 128084393 128084393 C T het . 10 +upstream MAP3K2(dist=8) chr2 128100813 128100813 G A het . 10 +intergenic MAP3K2(dist=2909),PROC(dist=72282) chr2 128103714 128103714 C A het . 5 +intergenic MAP3K2(dist=4304),PROC(dist=70887) chr2 128105109 128105109 - A het . 2 +intronic PROC chr2 128176195 128176195 G A het . 1 +exonic PROC chr2 128186022 128186022 A C het . 24 +intronic IWS1 chr2 128252553 128252553 T - het . 10 +intronic MYO7B chr2 128306739 128306742 CTTT - het . 2 +intronic MYO7B chr2 128342547 128342547 G A het . 3 +intronic MYO7B chr2 128354024 128354024 T C het . 6 +intronic MYO7B chr2 128383174 128383174 T C het . 2 +exonic MYO7B chr2 128388790 128388790 G A het . 5 +UTR5 SFT2D3(NM_032740:c.-64A>G) chr2 128459039 128459039 A G het . 1 +intronic WDR33 chr2 128500448 128500448 C A het . 1 +intronic WDR33 chr2 128551767 128551770 AAGC - het . 2 +intronic POLR2D chr2 128608272 128608272 A - het . 5 +intronic POLR2D chr2 128608290 128608290 T C het . 8 +intronic SAP130 chr2 128744580 128744580 A G het . 2 +intronic SAP130 chr2 128753854 128753854 T C het . 2 +intronic SAP130 chr2 128754197 128754197 A G het . 3 +intergenic SAP130(dist=27060),UGGT1(dist=36000) chr2 128812754 128812754 A G het . 2 +intergenic SAP130(dist=55550),UGGT1(dist=7510) chr2 128841244 128841244 T C het . 2 +intergenic SAP130(dist=55572),UGGT1(dist=7488) chr2 128841266 128841266 A G het . 2 +intronic UGGT1 chr2 128865858 128865858 A G het . 1 +intronic UGGT1 chr2 128885836 128885836 G A het . 1 +intronic UGGT1 chr2 128912685 128912685 C G het . 2 +UTR3 UGGT1(NM_020120:c.*189G>A) chr2 128947505 128947505 G A het . 5 +intergenic HS6ST1(dist=89299),LOC101927881(dist=456704) chr2 129165470 129165470 C T het . 2 +intergenic HS6ST1(dist=110865),LOC101927881(dist=435138) chr2 129187036 129187036 C T het . 2 +intergenic HS6ST1(dist=200613),LOC101927881(dist=345390) chr2 129276784 129276784 C T het . 29 +intergenic LOC101927881(dist=358813),LINC01854(dist=14632) chr2 129985114 129985114 C A het . 1 +intergenic LINC01854(dist=291156),LINC02572(dist=295166) chr2 130322620 130322620 T A het . 3 +intergenic LINC01854(dist=323287),LINC02572(dist=263035) chr2 130354751 130354751 T - het . 2 +intergenic LINC02572(dist=16857),PLAC9P1(dist=28514) chr2 130651921 130651921 G A het . 1 +ncRNA_intronic LINC01856 chr2 130694101 130694101 - G het . 2 +ncRNA_intronic LINC01856 chr2 130694129 130694129 G T het . 2 +intergenic RAB6C(dist=36222),FAR2P1(dist=7035) chr2 130776533 130776537 TTTTT - het . 2 +intronic POTEF chr2 130870933 130870933 G T het . 2 +intronic MZT2B chr2 130940090 130940090 G T het . 13 +intergenic TUBA3E(dist=5695),CCDC115(dist=133777) chr2 130961729 130961729 - T het . 2 +intergenic TUBA3E(dist=93670),CCDC115(dist=45801) chr2 131049704 131049705 TT - het . 2 +intergenic AMER3(dist=147243),ARHGEF4(dist=1274) chr2 131672950 131672950 A G het . 13 +upstream ARHGEF4(dist=89) chr2 131674135 131674135 A G het . 12 +intronic ARHGEF4 chr2 131675397 131675399 TTT - het . 4 +intronic ARHGEF4 chr2 131677651 131677651 T G het . 2 +intronic ARHGEF4 chr2 131692797 131692797 A G het . 2 +intronic ARHGEF4 chr2 131708264 131708266 CCA - het . 1 +intronic ARHGEF4 chr2 131777217 131777217 - T het . 2 +intronic ARHGEF4 chr2 131777229 131777229 T C het . 2 +intronic PLEKHB2 chr2 131884200 131884200 A G het . 23 +exonic PLEKHB2 chr2 131884269 131884269 C A het . 19 +intergenic PLEKHB2(dist=40868),POTEE(dist=27631) chr2 131948293 131948293 A G het . 9 +intergenic PLEKHB2(dist=44584),POTEE(dist=23915) chr2 131952009 131952009 G T het . 9 +intergenic PLEKHB2(dist=47690),POTEE(dist=20809) chr2 131955115 131955115 G T het . 19 +ncRNA_intronic LOC440910 chr2 132044730 132044730 G A het . 2 +ncRNA_intronic LOC440910 chr2 132044746 132044746 C A het . 2 +intergenic LOC440910(dist=28462),RAB6D(dist=32211) chr2 132085854 132085854 T G het . 27 +intergenic RAB6D(dist=6705),LINC01120(dist=32038) chr2 132128436 132128436 G A het . 2 +ncRNA_exonic NOC2LP2 chr2 132200568 132200568 C T het . 30 +ncRNA_exonic NOC2LP2 chr2 132200577 132200577 C A het . 33 +intronic MZT2A chr2 132246765 132246765 C T het . 4 +upstream LOC150776,MZT2A(dist=31) chr2 132250355 132250355 G C het . 2 +ncRNA_intronic LOC150776 chr2 132260365 132260365 - TTTAT het . 2 +upstream POTEKP(dist=202) chr2 132349413 132349413 G A het . 25 +ncRNA_intronic POTEKP chr2 132367062 132367062 - T het . 15 +ncRNA_intronic POTEKP chr2 132368807 132368807 A T het . 10 +ncRNA_intronic POTEKP chr2 132382097 132382098 AT - het . 6 +ncRNA_intronic LINC01945 chr2 132792504 132792504 T C het . 3 +intergenic ANKRD30BL(dist=79037),MIR663B(dist=15977) chr2 132998562 132998562 G C het . 4 +intergenic ANKRD30BL(dist=82405),MIR663B(dist=12609) chr2 133001930 133001930 G C het . 1 +intergenic ANKRD30BL(dist=82408),MIR663B(dist=12606) chr2 133001933 133001933 G A het . 1 +intergenic ANKRD30BL(dist=82414),MIR663B(dist=12600) chr2 133001939 133001939 C G het . 1 +intergenic ANKRD30BL(dist=85613),MIR663B(dist=9401) chr2 133005138 133005138 A C het . 2 +intergenic ANKRD30BL(dist=85851),MIR663B(dist=9163) chr2 133005376 133005376 A C het . 2 +intergenic ANKRD30BL(dist=85893),MIR663B(dist=9121) chr2 133005418 133005418 T C het . 2 +intergenic ANKRD30BL(dist=85901),MIR663B(dist=9113) chr2 133005426 133005426 T G het . 2 +intergenic ANKRD30BL(dist=85904),MIR663B(dist=9110) chr2 133005429 133005429 C G het . 2 +intergenic ANKRD30BL(dist=85908),MIR663B(dist=9106) chr2 133005433 133005433 A T het . 2 +intergenic ANKRD30BL(dist=85917),MIR663B(dist=9097) chr2 133005442 133005442 G T het . 2 +intergenic ANKRD30BL(dist=91186),MIR663B(dist=3828) chr2 133010711 133010711 G A het . 1 +intergenic ANKRD30BL(dist=91195),MIR663B(dist=3819) chr2 133010720 133010720 T C het . 1 +intergenic ANKRD30BL(dist=91202),MIR663B(dist=3812) chr2 133010727 133010727 T C het . 1 +intergenic ANKRD30BL(dist=91386),MIR663B(dist=3628) chr2 133010911 133010911 C G het . 2 +intergenic ANKRD30BL(dist=93793),MIR663B(dist=1221) chr2 133013318 133013318 A G het . 2 +intergenic ANKRD30BL(dist=93799),MIR663B(dist=1215) chr2 133013324 133013324 C A het . 2 +intergenic ANKRD30BL(dist=93802),MIR663B(dist=1212) chr2 133013327 133013327 G T het . 2 +intergenic ANKRD30BL(dist=93826),MIR663B(dist=1188) chr2 133013351 133013351 G A het . 2 +downstream MIR663B(dist=613) chr2 133013925 133013926 CC TT het . 2 +downstream MIR663B(dist=608) chr2 133013931 133013931 G C het . 2 +downstream MIR663B(dist=600) chr2 133013939 133013939 A C het . 2 +downstream MIR663B(dist=565) chr2 133013974 133013974 T C het . 4 +downstream MIR663B(dist=551) chr2 133013988 133013988 G A het . 4 +downstream MIR663B(dist=546) chr2 133013993 133013993 C A het . 3 +downstream MIR663B(dist=518) chr2 133014021 133014021 C T het . 4 +downstream MIR663B(dist=509) chr2 133014030 133014030 G A het . 4 +downstream MIR663B(dist=483) chr2 133014056 133014056 G T het . 3 +downstream MIR663B(dist=455) chr2 133014084 133014084 G C het . 4 +downstream MIR663B(dist=423) chr2 133014116 133014116 C A het . 3 +downstream MIR663B(dist=261) chr2 133014278 133014278 T C het . 4 +downstream MIR663B(dist=254) chr2 133014285 133014285 G C het . 4 +downstream MIR663B(dist=63) chr2 133014476 133014476 A G het . 6 +ncRNA_exonic MIR663B chr2 133014546 133014546 C G het . 12 +ncRNA_exonic MIR663B chr2 133014556 133014556 C T het . 11 +ncRNA_exonic MIR663B chr2 133014557 133014557 G A het . 12 +ncRNA_exonic MIR663B chr2 133014580 133014580 C T het . 15 +ncRNA_exonic MIR663B chr2 133014587 133014587 C T het . 16 +upstream MIR663B(dist=50) chr2 133014703 133014703 T C het . 19 +upstream MIR663B(dist=68) chr2 133014721 133014721 T C het . 20 +upstream MIR663B(dist=98) chr2 133014751 133014751 T C het . 19 +upstream MIR663B(dist=123) chr2 133014776 133014777 CA TG het . 10 +upstream MIR663B(dist=133) chr2 133014786 133014786 G A het . 7 +upstream MIR663B(dist=152) chr2 133014805 133014805 C T het . 5 +upstream MIR663B(dist=257) chr2 133014910 133014910 C T het . 6 +upstream MIR663B(dist=269) chr2 133014922 133014922 C T het . 6 +upstream MIR663B(dist=923) chr2 133015576 133015576 T C het . 1 +upstream MIR663B(dist=929) chr2 133015582 133015582 G C het . 2 +upstream MIR663B(dist=939) chr2 133015592 133015592 G A het . 2 +upstream MIR663B(dist=950) chr2 133015603 133015603 A C het . 2 +upstream MIR663B(dist=972) chr2 133015625 133015625 G A het . 2 +upstream MIR663B(dist=977) chr2 133015630 133015630 C T het . 2 +intergenic MIR663B(dist=1336),ZNF806(dist=46376) chr2 133015989 133015989 G T het . 3 +intergenic MIR663B(dist=1346),ZNF806(dist=46366) chr2 133015999 133015999 T G het . 3 +intergenic MIR663B(dist=1711),ZNF806(dist=46001) chr2 133016364 133016364 G A het . 4 +intergenic MIR663B(dist=1750),ZNF806(dist=45962) chr2 133016403 133016403 G A het . 2 +intergenic MIR663B(dist=2001),ZNF806(dist=45711) chr2 133016654 133016654 A T het . 3 +intergenic MIR663B(dist=2343),ZNF806(dist=45369) chr2 133016996 133016996 T C het . 9 +intergenic MIR663B(dist=2368),ZNF806(dist=45344) chr2 133017021 133017021 T C het . 11 +intergenic MIR663B(dist=2409),ZNF806(dist=45303) chr2 133017062 133017062 A T het . 8 +intergenic MIR663B(dist=2428),ZNF806(dist=45284) chr2 133017081 133017081 T A het . 5 +intergenic MIR663B(dist=2466),ZNF806(dist=45246) chr2 133017119 133017119 T C het . 1 +intergenic MIR663B(dist=2497),ZNF806(dist=45215) chr2 133017150 133017150 C T het . 4 +intergenic MIR663B(dist=2503),ZNF806(dist=45209) chr2 133017156 133017156 C T het . 4 +intergenic MIR663B(dist=2505),ZNF806(dist=45207) chr2 133017158 133017158 C T het . 4 +intergenic MIR663B(dist=2522),ZNF806(dist=45190) chr2 133017175 133017175 C T het . 5 +intergenic MIR663B(dist=2549),ZNF806(dist=45163) chr2 133017202 133017202 A T het . 4 +intergenic MIR663B(dist=2551),ZNF806(dist=45161) chr2 133017204 133017204 C T het . 4 +intergenic MIR663B(dist=3991),ZNF806(dist=43721) chr2 133018644 133018644 C G het . 6 +intergenic MIR663B(dist=4117),ZNF806(dist=43595) chr2 133018770 133018770 T C het . 13 +intergenic MIR663B(dist=4132),ZNF806(dist=43580) chr2 133018785 133018785 T C het . 15 +intergenic MIR663B(dist=4174),ZNF806(dist=43538) chr2 133018827 133018827 G A het . 21 +intergenic MIR663B(dist=4196),ZNF806(dist=43516) chr2 133018849 133018849 G A het . 18 +intergenic MIR663B(dist=4472),ZNF806(dist=43240) chr2 133019125 133019125 T A het . 25 +intergenic MIR663B(dist=4474),ZNF806(dist=43238) chr2 133019127 133019127 C A het . 26 +intergenic MIR663B(dist=4519),ZNF806(dist=43193) chr2 133019172 133019172 T G het . 39 +intergenic MIR663B(dist=4523),ZNF806(dist=43189) chr2 133019176 133019176 A G het . 39 +intergenic MIR663B(dist=4530),ZNF806(dist=43182) chr2 133019183 133019183 C T het . 38 +intergenic MIR663B(dist=4538),ZNF806(dist=43174) chr2 133019191 133019191 T G het . 34 +intergenic MIR663B(dist=4549),ZNF806(dist=43163) chr2 133019202 133019202 C T het . 38 +intergenic MIR663B(dist=4563),ZNF806(dist=43149) chr2 133019216 133019216 C T het . 32 +intergenic MIR663B(dist=4600),ZNF806(dist=43112) chr2 133019253 133019253 - CC het . 36 +intergenic MIR663B(dist=4601),ZNF806(dist=43111) chr2 133019254 133019254 A C het . 36 +intergenic MIR663B(dist=4618),ZNF806(dist=43094) chr2 133019271 133019271 A G het . 37 +intergenic MIR663B(dist=4620),ZNF806(dist=43092) chr2 133019273 133019273 A G het . 40 +intergenic MIR663B(dist=4621),ZNF806(dist=43091) chr2 133019274 133019274 T A het . 40 +intergenic MIR663B(dist=4622),ZNF806(dist=43090) chr2 133019275 133019275 - GT het . 38 +intergenic MIR663B(dist=4625),ZNF806(dist=43086) chr2 133019278 133019279 CA - het . 36 +intergenic MIR663B(dist=4625),ZNF806(dist=43086) chr2 133019278 133019279 CA TT het . 38 +intergenic MIR663B(dist=4638),ZNF806(dist=43074) chr2 133019291 133019291 C A het . 32 +intergenic MIR663B(dist=4661),ZNF806(dist=43051) chr2 133019314 133019314 C A het . 29 +intergenic MIR663B(dist=4669),ZNF806(dist=43043) chr2 133019322 133019322 G A het . 30 +intergenic MIR663B(dist=4707),ZNF806(dist=43005) chr2 133019360 133019360 T C het . 10 +intergenic MIR663B(dist=4713),ZNF806(dist=42999) chr2 133019366 133019366 C T het . 10 +intergenic MIR663B(dist=4836),ZNF806(dist=42876) chr2 133019489 133019489 T C het . 6 +intergenic MIR663B(dist=4838),ZNF806(dist=42874) chr2 133019491 133019491 C T het . 6 +intergenic MIR663B(dist=4925),ZNF806(dist=42787) chr2 133019578 133019578 C G het . 23 +intergenic MIR663B(dist=4930),ZNF806(dist=42782) chr2 133019583 133019583 C T het . 24 +intergenic MIR663B(dist=4941),ZNF806(dist=42771) chr2 133019594 133019594 A C het . 22 +intergenic MIR663B(dist=4950),ZNF806(dist=42762) chr2 133019603 133019603 T C het . 22 +intergenic MIR663B(dist=4983),ZNF806(dist=42729) chr2 133019636 133019636 T C het . 30 +intergenic MIR663B(dist=5018),ZNF806(dist=42694) chr2 133019671 133019671 C T het . 39 +intergenic MIR663B(dist=5032),ZNF806(dist=42680) chr2 133019685 133019685 G A het . 42 +intergenic MIR663B(dist=5034),ZNF806(dist=42678) chr2 133019687 133019687 T C het . 42 +intergenic MIR663B(dist=5047),ZNF806(dist=42665) chr2 133019700 133019700 G A het . 41 +intergenic MIR663B(dist=5050),ZNF806(dist=42662) chr2 133019703 133019703 T G het . 36 +intergenic MIR663B(dist=5057),ZNF806(dist=42655) chr2 133019710 133019710 A C het . 33 +intergenic MIR663B(dist=5080),ZNF806(dist=42632) chr2 133019733 133019733 G A het . 28 +intergenic MIR663B(dist=5164),ZNF806(dist=42548) chr2 133019817 133019817 G C het . 15 +intergenic MIR663B(dist=5170),ZNF806(dist=42542) chr2 133019823 133019823 T C het . 16 +intergenic MIR663B(dist=5179),ZNF806(dist=42533) chr2 133019832 133019832 T A het . 16 +intergenic MIR663B(dist=5182),ZNF806(dist=42530) chr2 133019835 133019835 A T het . 15 +intergenic MIR663B(dist=5233),ZNF806(dist=42479) chr2 133019886 133019886 - GAA het . 10 +intergenic MIR663B(dist=5421),ZNF806(dist=42291) chr2 133020074 133020074 G A het . 9 +intergenic MIR663B(dist=5460),ZNF806(dist=42252) chr2 133020113 133020113 A G het . 23 +intergenic MIR663B(dist=5463),ZNF806(dist=42249) chr2 133020116 133020116 T - het . 26 +intergenic MIR663B(dist=5465),ZNF806(dist=42247) chr2 133020118 133020118 C T het . 26 +intergenic MIR663B(dist=5471),ZNF806(dist=42241) chr2 133020124 133020124 G A het . 28 +intergenic MIR663B(dist=5498),ZNF806(dist=42214) chr2 133020151 133020151 T C het . 26 +intergenic MIR663B(dist=5502),ZNF806(dist=42210) chr2 133020155 133020155 G A het . 24 +intergenic MIR663B(dist=5507),ZNF806(dist=42205) chr2 133020160 133020160 A T het . 24 +intergenic MIR663B(dist=5511),ZNF806(dist=42201) chr2 133020164 133020164 G T het . 22 +intergenic MIR663B(dist=5649),ZNF806(dist=42063) chr2 133020302 133020302 T A het . 16 +intergenic MIR663B(dist=5678),ZNF806(dist=42034) chr2 133020331 133020331 A T het . 24 +intergenic MIR663B(dist=5686),ZNF806(dist=42026) chr2 133020339 133020339 T G het . 24 +intergenic MIR663B(dist=5691),ZNF806(dist=42021) chr2 133020344 133020344 A G het . 30 +intergenic MIR663B(dist=5693),ZNF806(dist=42019) chr2 133020346 133020346 T C het . 30 +intergenic MIR663B(dist=5695),ZNF806(dist=42017) chr2 133020348 133020348 T C het . 30 +intergenic MIR663B(dist=5701),ZNF806(dist=42011) chr2 133020354 133020354 C G het . 33 +intergenic MIR663B(dist=5710),ZNF806(dist=42002) chr2 133020363 133020363 G A het . 33 +intergenic MIR663B(dist=5729),ZNF806(dist=41983) chr2 133020382 133020382 C T het . 21 +intergenic MIR663B(dist=5761),ZNF806(dist=41951) chr2 133020414 133020414 A G het . 18 +intergenic MIR663B(dist=5785),ZNF806(dist=41926) chr2 133020438 133020439 CA TG het . 13 +intergenic MIR663B(dist=5886),ZNF806(dist=41826) chr2 133020539 133020539 A G het . 7 +intergenic MIR663B(dist=5889),ZNF806(dist=41823) chr2 133020542 133020542 G A het . 7 +intergenic MIR663B(dist=5913),ZNF806(dist=41799) chr2 133020566 133020566 - A het . 7 +intergenic MIR663B(dist=5923),ZNF806(dist=41789) chr2 133020576 133020576 G A het . 7 +intergenic MIR663B(dist=5944),ZNF806(dist=41768) chr2 133020597 133020597 - A het . 4 +intergenic MIR663B(dist=19103),ZNF806(dist=28609) chr2 133033756 133033756 C A het . 6 +intergenic MIR663B(dist=19125),ZNF806(dist=28587) chr2 133033778 133033778 G A het . 5 +intergenic MIR663B(dist=19148),ZNF806(dist=28564) chr2 133033801 133033801 A G het . 4 +intergenic MIR663B(dist=20911),ZNF806(dist=26801) chr2 133035564 133035564 A G het . 2 +intergenic MIR663B(dist=27837),ZNF806(dist=19875) chr2 133042490 133042490 C T het . 3 +intergenic MIR663B(dist=27845),ZNF806(dist=19867) chr2 133042498 133042498 A G het . 3 +intergenic MIR663B(dist=27851),ZNF806(dist=19861) chr2 133042504 133042504 A T het . 3 +intergenic MIR663B(dist=34129),ZNF806(dist=13583) chr2 133048782 133048782 T G het . 5 +intergenic MIR663B(dist=34777),ZNF806(dist=12935) chr2 133049430 133049430 C G het . 3 +intergenic MIR663B(dist=36878),ZNF806(dist=10834) chr2 133051531 133051531 G A het . 3 +intergenic MIR663B(dist=38913),ZNF806(dist=8799) chr2 133053566 133053566 A G het . 2 +intergenic MIR663B(dist=39183),ZNF806(dist=8529) chr2 133053836 133053836 T A het . 2 +intergenic MIR663B(dist=39573),ZNF806(dist=8139) chr2 133054226 133054226 C T het . 4 +intergenic MIR663B(dist=40676),ZNF806(dist=7036) chr2 133055329 133055329 C A het . 3 +intergenic MIR663B(dist=40919),ZNF806(dist=6793) chr2 133055572 133055572 A G het . 2 +intergenic MIR663B(dist=43718),ZNF806(dist=3994) chr2 133058371 133058371 T A het . 2 +intergenic MIR663B(dist=43720),ZNF806(dist=3992) chr2 133058373 133058373 G A het . 2 +intergenic MIR663B(dist=43952),ZNF806(dist=3760) chr2 133058605 133058605 G A het . 2 +intergenic MIR663B(dist=44320),ZNF806(dist=3392) chr2 133058973 133058973 A G het . 2 +intergenic MIR663B(dist=44325),ZNF806(dist=3387) chr2 133058978 133058978 A G het . 3 +intergenic MIR663B(dist=44344),ZNF806(dist=3368) chr2 133058997 133058997 C A het . 4 +intronic ZNF806 chr2 133066725 133066727 GAT - het . 24 +intronic ZNF806 chr2 133066967 133066967 - GGT het . 17 +intronic ZNF806 chr2 133067025 133067025 C G het . 4 +intronic ZNF806 chr2 133067049 133067049 T C het . 2 +intronic ZNF806 chr2 133070318 133070318 A C het . 20 +exonic ZNF806 chr2 133070449 133070449 T C het . 17 +exonic ZNF806 chr2 133070508 133070508 G T het . 25 +exonic ZNF806 chr2 133070531 133070531 C T het . 16 +intronic ZNF806 chr2 133070656 133070656 T G het . 10 +intronic ZNF806 chr2 133070685 133070685 C T het . 7 +intronic ZNF806 chr2 133074569 133074572 TTAA - het . 7 +intronic ZNF806 chr2 133074638 133074638 C T het . 12 +exonic ZNF806 chr2 133074683 133074683 T C het . 9 +exonic ZNF806 chr2 133074759 133074759 A C het . 15 +exonic ZNF806 chr2 133074851 133074851 A T het . 22 +exonic ZNF806 chr2 133075027 133075027 G A het . 29 +exonic ZNF806 chr2 133075104 133075104 C T het . 24 +exonic ZNF806 chr2 133075207 133075207 C T het . 22 +exonic ZNF806 chr2 133075479 133075479 C - het . 13 +exonic ZNF806 chr2 133075602 133075602 A C het . 13 +exonic ZNF806 chr2 133075612 133075612 C T het . 15 +exonic ZNF806 chr2 133075615 133075615 G C het . 14 +exonic ZNF806 chr2 133075639 133075639 G T het . 12 +exonic ZNF806 chr2 133075664 133075664 T G het . 18 +exonic ZNF806 chr2 133075674 133075674 G C het . 19 +exonic ZNF806 chr2 133075726 133075726 A G het . 16 +exonic ZNF806 chr2 133076032 133076032 T G het . 29 +exonic ZNF806 chr2 133076048 133076048 A G het . 31 +exonic ZNF806 chr2 133076118 133076118 A - het . 31 +exonic ZNF806 chr2 133076155 133076155 G A het . 21 +UTR3 ZNF806(NM_001304449:c.*2T>C) chr2 133076311 133076311 T C het . 4 +intergenic ZNF806(dist=1968),FAM201B(dist=27950) chr2 133082290 133082290 T C het . 4 +intergenic ZNF806(dist=2172),FAM201B(dist=27746) chr2 133082494 133082494 C T het . 4 +intergenic ZNF806(dist=2197),FAM201B(dist=27721) chr2 133082519 133082519 A C het . 3 +intergenic ZNF806(dist=5458),FAM201B(dist=24460) chr2 133085780 133085780 A T het . 2 +intergenic ZNF806(dist=5509),FAM201B(dist=24409) chr2 133085831 133085831 A G het . 3 +intergenic ZNF806(dist=6027),FAM201B(dist=23891) chr2 133086349 133086349 - A het . 2 +intergenic ZNF806(dist=21916),FAM201B(dist=7999) chr2 133102238 133102241 TTGA - het . 2 +intergenic ZNF806(dist=21921),FAM201B(dist=7997) chr2 133102243 133102243 T C het . 2 +intergenic ZNF806(dist=21928),FAM201B(dist=7990) chr2 133102250 133102250 T C het . 2 +intergenic ZNF806(dist=21951),FAM201B(dist=7967) chr2 133102273 133102273 T C het . 3 +intergenic ZNF806(dist=21975),FAM201B(dist=7943) chr2 133102297 133102297 G C het . 3 +intergenic ZNF806(dist=22008),FAM201B(dist=7910) chr2 133102330 133102330 G A het . 2 +intergenic ZNF806(dist=25946),FAM201B(dist=3972) chr2 133106268 133106268 G A het . 3 +ncRNA_exonic FAM201B chr2 133110744 133110744 C T het . 8 +ncRNA_exonic FAM201B chr2 133110748 133110748 C G het . 8 +ncRNA_exonic FAM201B chr2 133110759 133110759 G T het . 9 +intronic GPR39 chr2 133244091 133244091 A G het . 2 +intronic GPR39 chr2 133382758 133382758 T C het . 3 +intronic GPR39 chr2 133387826 133387826 T C het . 2 +exonic GPR39 chr2 133402949 133402949 G A het . 9 +intronic NCKAP5 chr2 133753220 133753220 - AAAC het . 4 +intronic NCKAP5 chr2 134075696 134075696 G T het . 3 +intergenic NCKAP5(dist=173718),MIR3679(dist=384947) chr2 134499749 134499749 T C het . 2 +intronic MGAT5 chr2 135076111 135076111 C G het . 1 +intronic MGAT5 chr2 135170634 135170634 C A het . 20 +exonic ACMSD chr2 135625215 135625215 G A het . 13 +intronic CCNT2 chr2 135703339 135703339 T - het . 23 +intronic RAB3GAP1 chr2 135870967 135870967 C A het . 19 +intronic RAB3GAP1 chr2 135887515 135887515 T - het . 27 +intronic R3HDM1 chr2 136474541 136474541 - AAAC het . 2 +intronic UBXN4 chr2 136527443 136527443 - TGAT het . 9 +intronic LCT chr2 136548169 136548169 A G het . 4 +intronic LCT chr2 136548192 136548192 G A het . 4 +splicing DARS(NM_001293312:exon6:c.205-2->T,NM_001349:exon7:c.505-2->T) chr2 136690414 136690414 - A het . 10 +intergenic CXCR4(dist=211599),THSD7B(dist=435808) chr2 137087324 137087324 A G het . 21 +intergenic CXCR4(dist=411770),THSD7B(dist=235637) chr2 137287495 137287495 C T het . 2 +intergenic CXCR4(dist=433232),THSD7B(dist=214175) chr2 137308957 137308957 A C het . 2 +intergenic CXCR4(dist=532035),THSD7B(dist=115372) chr2 137407760 137407760 G A het . 3 +intergenic CXCR4(dist=540310),THSD7B(dist=107097) chr2 137416035 137416035 A G het . 1 +intergenic CXCR4(dist=571209),THSD7B(dist=76198) chr2 137446934 137446934 - G het . 1 +intronic THSD7B chr2 137530668 137530668 G T het . 2 +intronic THSD7B chr2 138181689 138181689 A - het . 1 +intronic THSD7B chr2 138296374 138296374 A C het . 2 +intergenic THSD7B(dist=177224),LOC101928273(dist=23818) chr2 138612506 138612506 - T het . 2 +intergenic THSD7B(dist=177239),LOC101928273(dist=23803) chr2 138612521 138612521 A G het . 2 +intergenic THSD7B(dist=177251),LOC101928273(dist=23791) chr2 138612533 138612533 C A het . 1 +intergenic LOC101928273(dist=3280),HNMT(dist=33026) chr2 138688782 138688782 G A het . 4 +intergenic HNMT(dist=40506),LINC01832(dist=45014) chr2 138814440 138814440 - AAAAGAAAAAGA het . 3 +intergenic LINC01832(dist=36914),SPOPL(dist=358961) chr2 138900389 138900389 A - het . 2 +intergenic LINC01832(dist=78140),SPOPL(dist=317735) chr2 138941615 138941615 G A het . 3 +intergenic LINC01832(dist=78168),SPOPL(dist=317707) chr2 138941643 138941643 G T het . 2 +intergenic LINC01832(dist=173015),SPOPL(dist=222859) chr2 139036490 139036491 GG AA het . 11 +intergenic LINC01832(dist=201935),SPOPL(dist=193939) chr2 139065410 139065411 GG AA het . 18 +intergenic LINC01832(dist=201936),SPOPL(dist=193939) chr2 139065411 139065411 G A het . 20 +intronic NXPH2 chr2 139513373 139513373 C T het . 2 +ncRNA_exonic YY1P2 chr2 139655338 139655338 T - het . 3 +ncRNA_exonic YY1P2 chr2 139655372 139655372 C A het . 5 +intergenic YY1P2(dist=117717),LRP1B(dist=1214535) chr2 139774461 139774461 T C het . 3 +intergenic YY1P2(dist=151115),LRP1B(dist=1181137) chr2 139807859 139807859 A G het . 3 +intergenic YY1P2(dist=202780),LRP1B(dist=1129472) chr2 139859524 139859524 C T het . 2 +intergenic YY1P2(dist=326720),LRP1B(dist=1005532) chr2 139983464 139983464 G A het . 2 +intergenic YY1P2(dist=418088),LRP1B(dist=914164) chr2 140074832 140074832 T - het . 2 +intergenic YY1P2(dist=606482),LRP1B(dist=725770) chr2 140263226 140263226 A G het . 1 +intergenic YY1P2(dist=832524),LRP1B(dist=499728) chr2 140489268 140489268 G A het . 2 +intergenic YY1P2(dist=1016109),LRP1B(dist=316143) chr2 140672853 140672853 C A het . 2 +UTR3 LRP1B(NM_018557:c.*6G>T) chr2 140990749 140990749 C A het . 12 +intronic LRP1B chr2 140996908 140996908 C A het . 8 +intronic LRP1B chr2 141004513 141004513 C T het . 1 +intronic LRP1B chr2 141004529 141004529 A G het . 2 +intronic LRP1B chr2 141047213 141047213 T C het . 1 +intronic LRP1B chr2 141086388 141086388 A G het . 2 +intronic LRP1B chr2 141116601 141116601 C A het . 14 +intronic LRP1B chr2 141253408 141253408 T C het . 3 +exonic LRP1B chr2 141274504 141274504 G A het . 31 +intronic LRP1B chr2 141304485 141304485 T G het . 2 +intronic LRP1B chr2 141549682 141549682 C T het . 1 +intronic LRP1B chr2 141600541 141600541 T C het . 2 +intronic LRP1B chr2 141673062 141673062 A - het . 3 +intronic LRP1B chr2 141703647 141703647 G A het . 2 +intronic LRP1B chr2 141835903 141835903 T A het . 3 +intronic LRP1B chr2 141860248 141860248 G T het . 2 +intronic LRP1B chr2 141860257 141860257 A G het . 2 +intronic LRP1B chr2 141876527 141876527 C A het . 1 +intronic LRP1B chr2 142094007 142094007 T C het . 2 +intronic LRP1B chr2 142103710 142103710 G T het . 2 +intronic LRP1B chr2 142116876 142116876 T C het . 2 +intronic LRP1B chr2 142234712 142234712 - AC het . 5 +intronic LRP1B chr2 142234732 142234732 A G het . 7 +intronic LRP1B chr2 142234737 142234737 C - het . 5 +intronic LRP1B chr2 142238325 142238325 A T het . 7 +intronic LRP1B chr2 142243966 142243966 T C het . 2 +intronic LRP1B chr2 142279077 142279077 T C het . 1 +intronic LRP1B chr2 142427942 142427942 C A het . 2 +intronic LRP1B chr2 142639173 142639173 C A het . 2 +UTR5 LRP1B(NM_018557:c.-78C>G) chr2 142888376 142888376 G C het . 9 +intergenic LRP1B(dist=20952),KYNU(dist=724973) chr2 142910222 142910222 C T het . 8 +intergenic LRP1B(dist=21034),KYNU(dist=724890) chr2 142910304 142910305 TC - het . 5 +intergenic LRP1B(dist=21150),KYNU(dist=724774) chr2 142910420 142910421 CC - het . 16 +intergenic LRP1B(dist=225697),KYNU(dist=520228) chr2 143114967 143114967 C A het . 2 +intergenic LRP1B(dist=344068),KYNU(dist=401857) chr2 143233338 143233338 T A het . 2 +intronic KYNU chr2 143676142 143676142 T - het . 14 +intronic KYNU chr2 143787161 143787161 C A het . 22 +downstream KYNU(dist=22) chr2 143799907 143799907 G A het . 6 +intergenic KYNU(dist=85246),ARHGAP15(dist=1768) chr2 143885131 143885131 A G het . 1 +intronic ARHGAP15 chr2 143887084 143887084 C T het . 2 +intronic ARHGAP15 chr2 144087701 144087701 C A het . 3 +intronic ARHGAP15 chr2 144308780 144308780 C G het . 2 +intronic ARHGAP15 chr2 144515838 144515838 C T het . 2 +intergenic ARHGAP15(dist=47194),LOC101928386(dist=121519) chr2 144573115 144573115 A G het . 2 +intergenic ARHGAP15(dist=50414),LOC101928386(dist=118299) chr2 144576335 144576335 C T het . 2 +intergenic ARHGAP15(dist=130338),LOC101928386(dist=38373) chr2 144656259 144656261 AAC - het . 2 +intronic GTDC1 chr2 145070291 145070291 G T het . 1 +intronic ZEB2 chr2 145182093 145182093 C A het . 19 +intronic ZEB2 chr2 145236142 145236142 A G het . 3 +intronic ZEB2 chr2 145236163 145236163 G T het . 2 +intronic ZEB2 chr2 145268858 145268858 A C het . 2 +intronic ZEB2 chr2 145273364 145273364 - AG het . 2 +ncRNA_intronic LINC01412 chr2 145286696 145286696 A T het . 2 +ncRNA_intronic TEX41 chr2 145519623 145519623 A G het . 2 +intergenic TEX41(dist=12660),PABPC1P2(dist=1497674) chr2 145846951 145846951 C G het . 1 +intergenic TEX41(dist=54545),PABPC1P2(dist=1455789) chr2 145888836 145888836 T C het . 3 +intergenic TEX41(dist=54549),PABPC1P2(dist=1455785) chr2 145888840 145888840 T G het . 2 +intergenic TEX41(dist=75362),PABPC1P2(dist=1434972) chr2 145909653 145909653 G A het . 3 +intergenic TEX41(dist=232886),PABPC1P2(dist=1277448) chr2 146067177 146067177 A G het . 1 +intergenic TEX41(dist=1072676),PABPC1P2(dist=437658) chr2 146906967 146906967 C A het . 2 +intergenic TEX41(dist=1240256),PABPC1P2(dist=270078) chr2 147074547 147074547 G A het . 2 +intergenic TEX41(dist=1371943),PABPC1P2(dist=138391) chr2 147206234 147206234 C T het . 2 +intergenic TEX41(dist=1464750),PABPC1P2(dist=45584) chr2 147299041 147299041 C A het . 2 +intergenic PABPC1P2(dist=212178),ACVR2A(dist=1041350) chr2 147560736 147560736 A - het . 5 +intergenic PABPC1P2(dist=475713),ACVR2A(dist=777815) chr2 147824271 147824271 T A het . 2 +intergenic PABPC1P2(dist=509073),ACVR2A(dist=744455) chr2 147857631 147857631 A C het . 1 +intergenic PABPC1P2(dist=585461),ACVR2A(dist=668067) chr2 147934019 147934019 C T het . 2 +intergenic PABPC1P2(dist=769493),ACVR2A(dist=484035) chr2 148118051 148118051 C A het . 2 +intergenic PABPC1P2(dist=894306),ACVR2A(dist=359222) chr2 148242864 148242864 G A het . 1 +intronic ACVR2A chr2 148636556 148636556 G T het . 2 +intronic ORC4 chr2 148701100 148701101 AA - het . 22 +intronic ORC4 chr2 148705979 148705979 C A het . 4 +UTR5 ORC4(NM_181742:c.-45541_-45543delCAG) chr2 148779068 148779070 CTG - het . 14 +intronic MBD5 chr2 148866193 148866193 A T het . 2 +exonic MBD5 chr2 149226513 149226513 A C het . 30 +exonic MBD5 chr2 149226520 149226520 A C het . 29 +intronic MBD5 chr2 149240658 149240658 T - het . 12 +intronic MBD5 chr2 149241063 149241063 C A het . 15 +intronic EPC2 chr2 149434485 149434485 G A het . 2 +intronic EPC2 chr2 149524519 149524519 G A het . 2 +intergenic EPC2(dist=33916),KIF5C(dist=53740) chr2 149579052 149579052 T - het . 3 +intronic LYPD6 chr2 150320628 150320628 A - het . 11 +intronic MMADHC chr2 150432690 150432690 T A het . 2 +ncRNA_intronic LOC101929231 chr2 150457960 150457960 C G het . 2 +ncRNA_intronic LINC01931,LOC101929231 chr2 150694477 150694477 A G het . 2 +intergenic LINC01817(dist=58248),RND3(dist=152938) chr2 151171769 151171769 G A het . 1 +intronic RND3 chr2 151328285 151328285 A - het . 8 +UTR5 RND3(NM_001254738:c.-58_-57insA) chr2 151343988 151343988 - T het . 3 +intergenic RND3(dist=5710),LINC01920(dist=59125) chr2 151349919 151349921 ATC - het . 2 +upstream LOC101929282(dist=508) chr2 151484903 151484903 T G het . 2 +upstream LOC101929282(dist=482) chr2 151484929 151484929 A G het . 3 +upstream LOC101929282(dist=469) chr2 151484942 151484942 G A het . 3 +intergenic LOC101929282(dist=30655),RBM43(dist=582202) chr2 151522526 151522526 C T het . 1 +intergenic LOC101929282(dist=127169),RBM43(dist=485688) chr2 151619040 151619040 C T het . 2 +intergenic LOC101929282(dist=148532),RBM43(dist=464325) chr2 151640403 151640403 A C het . 1 +intergenic LOC101929282(dist=464337),RBM43(dist=148520) chr2 151956208 151956208 A G het . 2 +intronic RBM43 chr2 152111931 152111931 - A het . 14 +exonic TNFAIP6 chr2 152236046 152236046 A - het . 5 +intergenic TNFAIP6(dist=22903),RIF1(dist=6931) chr2 152259465 152259466 TT - het . 2 +intronic RIF1 chr2 152293620 152293620 C T het . 13 +intronic NEB chr2 152388416 152388416 T - het . 20 +intronic NEB chr2 152404985 152404985 C A het . 6 +intronic NEB chr2 152417064 152417064 G A het . 15 +exonic NEB chr2 152422076 152422076 C G het . 16 +exonic NEB chr2 152422087 152422087 A G het . 17 +intronic NEB chr2 152424934 152424934 A - het . 12 +intronic NEB chr2 152499580 152499580 C T het . 12 +intronic NEB chr2 152524209 152524209 T - het . 6 +intronic NEB chr2 152573902 152573902 - GGC het . 22 +exonic NEB chr2 152581400 152581400 C A het . 9 +intronic CACNB4 chr2 152772849 152772850 TT - het . 2 +intronic CACNB4 chr2 152874230 152874230 A C het . 2 +intronic CACNB4 chr2 152886021 152886021 - AAAAGAAAAG het . 2 +intronic STAM2 chr2 153006831 153006831 T C het . 4 +intergenic STAM2(dist=2341),FMNL2(dist=156904) chr2 153034847 153034847 A T het . 3 +intergenic STAM2(dist=29648),FMNL2(dist=129594) chr2 153062154 153062157 AAAT - het . 2 +intergenic STAM2(dist=130752),FMNL2(dist=28493) chr2 153163258 153163258 - AT het . 2 +intronic FMNL2 chr2 153195784 153195784 A - het . 4 +intronic FMNL2 chr2 153195967 153195967 T C het . 2 +intronic FMNL2 chr2 153205734 153205734 A G het . 2 +intronic FMNL2 chr2 153224480 153224480 G A het . 1 +intronic FMNL2 chr2 153246363 153246363 C A het . 20 +intronic FMNL2 chr2 153415229 153415229 - T het . 11 +intronic FMNL2 chr2 153467862 153467862 C A het . 5 +intronic FMNL2 chr2 153491380 153491380 A G het . 7 +intronic FMNL2 chr2 153491428 153491428 T G het . 10 +intronic FMNL2 chr2 153491440 153491440 C T het . 7 +intronic PRPF40A chr2 153515764 153515764 C A het . 32 +intronic PRPF40A chr2 153523404 153523404 C T het . 1 +intronic PRPF40A chr2 153532655 153532655 C T het . 1 +intronic PRPF40A chr2 153534139 153534139 G A het . 7 +intronic PRPF40A chr2 153549814 153549814 G C het . 2 +intronic ARL6IP6 chr2 153576265 153576265 A - het . 3 +intronic ARL6IP6 chr2 153576279 153576279 A C het . 3 +intronic ARL6IP6 chr2 153576580 153576580 - TTTC het . 5 +intronic ARL6IP6 chr2 153576599 153576599 A C het . 3 +intronic ARL6IP6 chr2 153576607 153576607 G A het . 2 +intergenic ARL6IP6(dist=156618),RPRM(dist=559467) chr2 153774385 153774385 A G het . 2 +intergenic ARL6IP6(dist=439564),RPRM(dist=276521) chr2 154057331 154057331 G T het . 2 +intergenic ARL6IP6(dist=439574),RPRM(dist=276511) chr2 154057341 154057341 G T het . 1 +intergenic ARL6IP6(dist=439581),RPRM(dist=276504) chr2 154057348 154057348 G T het . 1 +intronic GALNT13 chr2 154729498 154729498 A G het . 2 +intronic GALNT13 chr2 154844782 154844782 T C het . 1 +intronic GALNT13 chr2 154844785 154844785 T C het . 1 +intronic GALNT13 chr2 155098390 155098390 G C het . 4 +intronic GALNT13 chr2 155122355 155122355 G T het . 2 +intronic GALNT13 chr2 155122376 155122376 C G het . 1 +intergenic LOC100144595(dist=48472),KCNJ3(dist=192671) chr2 155362422 155362422 A G het . 1 +intergenic LOC100144595(dist=107424),KCNJ3(dist=133719) chr2 155421374 155421374 A G het . 2 +intergenic LOC100144595(dist=112595),KCNJ3(dist=128548) chr2 155426545 155426545 A T het . 2 +exonic KCNJ3 chr2 155566141 155566141 C A het . 16 +intergenic KCNJ3(dist=1092372),LINC01876(dist=69811) chr2 156807236 156807236 C T het . 2 +ncRNA_intronic LINC01876 chr2 156878500 156878500 T - het . 2 +ncRNA_intronic LINC01876 chr2 157076454 157076454 T C het . 3 +intronic NR4A2 chr2 157183212 157183212 C - het . 21 +intronic GPD2 chr2 157352735 157352735 T - het . 29 +intronic GPD2 chr2 157370019 157370019 T - het . 13 +intronic GPD2 chr2 157425503 157425503 T - het . 8 +intronic GPD2 chr2 157435842 157435842 T - het . 15 +intergenic GPD2(dist=305935),GALNT5(dist=365260) chr2 157748850 157748850 C T het . 1 +intergenic GPD2(dist=498819),GALNT5(dist=172376) chr2 157941734 157941734 C G het . 2 +intronic GALNT5 chr2 158146687 158146687 A C het . 2 +intronic GALNT5 chr2 158153091 158153091 C A het . 22 +intronic ACVR1C chr2 158406515 158406516 AA - het . 3 +intronic ACVR1C chr2 158406602 158406602 T - het . 4 +intergenic ACVR1C(dist=73795),ACVR1(dist=33764) chr2 158559194 158559194 C A het . 2 +intronic ACVR1 chr2 158655883 158655883 - AA het . 10 +intronic CCDC148 chr2 159102211 159102211 G C het . 1 +exonic CCDC148 chr2 159195339 159195339 G A het . 24 +intronic CCDC148 chr2 159215111 159215111 A G het . 10 +intronic CCDC148 chr2 159239271 159239271 A - het . 2 +intronic PKP4 chr2 159448238 159448238 G A het . 2 +intronic PKP4 chr2 159498940 159498940 A T het . 6 +ncRNA_intronic PKP4-AS1 chr2 159530651 159530651 A T het . 3 +ncRNA_intronic PKP4-AS1 chr2 159557977 159557977 A C het . 1 +ncRNA_intronic PKP4-AS1 chr2 159560007 159560007 C T het . 8 +intergenic DAPL1(dist=15510),TANC1(dist=137140) chr2 159688006 159688006 A T het . 2 +intergenic DAPL1(dist=37588),TANC1(dist=115062) chr2 159710084 159710084 C T het . 3 +intergenic DAPL1(dist=151527),TANC1(dist=1123) chr2 159824023 159824023 T G het . 2 +intronic TANC1 chr2 159961801 159961801 C T het . 2 +intronic TANC1 chr2 159961821 159961821 A T het . 2 +intronic TANC1 chr2 159993907 159993907 G A het . 1 +exonic TANC1 chr2 160086251 160086251 C A het . 29 +intronic WDSUB1 chr2 160092704 160092704 A - het . 12 +intronic WDSUB1 chr2 160092728 160092728 C A het . 20 +intronic BAZ2B chr2 160181544 160181545 TA - het . 3 +exonic BAZ2B chr2 160206591 160206591 C A het . 22 +intronic BAZ2B chr2 160241998 160241998 - TT het . 2 +intronic BAZ2B chr2 160246152 160246152 T C het . 2 +intronic BAZ2B chr2 160261721 160261721 T C het . 12 +intronic BAZ2B chr2 160261730 160261731 CT - het . 9 +intronic BAZ2B chr2 160319041 160319041 G T het . 21 +intronic BAZ2B chr2 160319160 160319160 G T het . 35 +intronic MARCH7 chr2 160590835 160590835 T - het . 2 +intronic MARCH7 chr2 160619233 160619233 T G het . 3 +intronic CD302,LY75-CD302 chr2 160634565 160634566 CC - het . 13 +intronic CD302,LY75-CD302 chr2 160634583 160634588 AATATC - het . 11 +intronic CD302,LY75-CD302 chr2 160637267 160637267 C A het . 5 +intronic CD302,LY75-CD302 chr2 160637902 160637902 - T het . 3 +intronic LY75-CD302 chr2 160658739 160658739 T G het . 2 +intronic LY75,LY75-CD302 chr2 160688351 160688351 C T het . 10 +intronic LY75,LY75-CD302 chr2 160688589 160688589 T - het . 2 +intronic LY75,LY75-CD302 chr2 160711248 160711248 T C het . 2 +intronic LY75,LY75-CD302 chr2 160734382 160734382 A G het . 1 +intronic LY75,LY75-CD302 chr2 160737495 160737495 A C het . 1 +intronic LY75,LY75-CD302 chr2 160738509 160738509 A G het . 1 +intronic PLA2R1 chr2 160806114 160806114 C A het . 8 +intronic PLA2R1 chr2 160857568 160857568 T C het . 1 +intronic PLA2R1 chr2 160872788 160872788 G A het . 1 +intronic PLA2R1 chr2 160872990 160872991 GT - het . 4 +intronic PLA2R1 chr2 160873021 160873021 G A het . 8 +intronic PLA2R1 chr2 160873270 160873270 A G het . 9 +intronic PLA2R1 chr2 160873282 160873282 T C het . 7 +intronic PLA2R1 chr2 160873294 160873294 - A het . 4 +intronic ITGB6 chr2 160958350 160958351 AA - het . 12 +intronic ITGB6 chr2 160968744 160968744 A - het . 14 +intergenic ITGB6(dist=3491),LINC02478(dist=53915) chr2 161060315 161060315 C T het . 1 +exonic RBMS1 chr2 161174693 161174693 C T het . 14 +intronic RBMS1 chr2 161223688 161223688 T A het . 8 +intronic RBMS1 chr2 161305447 161305447 C A het . 2 +intergenic RBMS1(dist=95326),TANK(dist=547822) chr2 161445644 161445644 C G het . 1 +intergenic RBMS1(dist=135632),TANK(dist=507516) chr2 161485950 161485950 T C het . 4 +intergenic RBMS1(dist=244515),TANK(dist=398633) chr2 161594833 161594833 C G het . 1 +intergenic RBMS1(dist=338754),TANK(dist=304392) chr2 161689072 161689074 ATC - het . 2 +intergenic RBMS1(dist=364789),TANK(dist=278359) chr2 161715107 161715107 T G het . 2 +intergenic RBMS1(dist=396650),TANK(dist=246498) chr2 161746968 161746968 - A het . 2 +intergenic RBMS1(dist=530482),TANK(dist=112666) chr2 161880800 161880800 T C het . 1 +intergenic RBMS1(dist=587252),TANK(dist=55896) chr2 161937570 161937570 G A het . 2 +intergenic RBMS1(dist=587292),TANK(dist=55852) chr2 161937610 161937614 TTTTC - het . 2 +intergenic LOC101929512(dist=24430),PSMD14(dist=29202) chr2 162135584 162135584 C G het . 3 +intergenic LOC101929512(dist=24729),PSMD14(dist=28903) chr2 162135883 162135883 A T het . 2 +intergenic LOC101929512(dist=24740),PSMD14(dist=28892) chr2 162135894 162135894 A G het . 5 +intergenic LOC101929512(dist=24742),PSMD14(dist=28890) chr2 162135896 162135896 T G het . 5 +intergenic LOC101929512(dist=24747),PSMD14(dist=28885) chr2 162135901 162135901 G A het . 4 +intergenic LOC101929512(dist=25346),PSMD14(dist=28286) chr2 162136500 162136500 A G het . 4 +intergenic LOC101929512(dist=25366),PSMD14(dist=28266) chr2 162136520 162136520 A G het . 3 +intergenic LOC101929512(dist=25626),PSMD14(dist=28006) chr2 162136780 162136780 C G het . 3 +intergenic LOC101929512(dist=25635),PSMD14(dist=27997) chr2 162136789 162136789 T C het . 4 +intergenic LOC101929512(dist=27139),PSMD14(dist=26493) chr2 162138293 162138293 C A het . 4 +intergenic LOC101929512(dist=27220),PSMD14(dist=26412) chr2 162138374 162138374 A G het . 2 +intronic PSMD14 chr2 162175290 162175290 T C het . 12 +intronic PSMD14 chr2 162242226 162242226 C T het . 3 +intronic PSMD14 chr2 162259210 162259210 A - het . 4 +intronic SLC4A10 chr2 162486927 162486928 CC - het . 2 +intronic SLC4A10 chr2 162559426 162559426 T C het . 2 +intronic SLC4A10 chr2 162729068 162729068 A - het . 4 +intronic SLC4A10 chr2 162758993 162758993 G A het . 2 +intronic SLC4A10 chr2 162762034 162762034 G A het . 4 +intronic SLC4A10 chr2 162787445 162787449 TTTTA - het . 2 +exonic SLC4A10 chr2 162830800 162830800 A C het . 17 +intronic DPP4 chr2 162876828 162876828 C T het . 9 +intronic DPP4 chr2 162890197 162890197 A - het . 6 +intronic DPP4 chr2 162903238 162903238 G A het . 24 +intronic FAP chr2 163054893 163054893 C A het . 12 +intergenic KCNH7(dist=114484),FIGN(dist=651721) chr2 163809741 163809741 T C het . 1 +intergenic KCNH7(dist=167592),FIGN(dist=598613) chr2 163862849 163862849 G A het . 2 +intergenic KCNH7(dist=499758),FIGN(dist=266442) chr2 164195015 164195020 GCAGCA - het . 6 +UTR3 FIGN(NM_001321825:c.*22delA,NM_018086:c.*22delA) chr2 164466040 164466040 T - het . 9 +intronic FIGN chr2 164576841 164576841 C A het . 1 +intergenic FIGN(dist=475000),GRB14(dist=281399) chr2 165067517 165067517 A C het . 2 +intergenic FIGN(dist=475002),GRB14(dist=281397) chr2 165067519 165067519 A C het . 2 +intronic GRB14 chr2 165358672 165358672 A G het . 7 +intronic GRB14 chr2 165381368 165381368 T - het . 14 +intronic GRB14 chr2 165472980 165472980 C T het . 3 +intronic COBLL1 chr2 165584407 165584407 C T het . 3 +ncRNA_intronic LOC101929633 chr2 165698715 165698715 - G het . 2 +UTR3 SCN3A(NM_006922:c.*79G>T,NM_001081676:c.*79G>T,NM_001081677:c.*79G>T) chr2 165946581 165946581 C A het . 15 +exonic SCN3A chr2 165947005 165947005 G A het . 45 +exonic SCN3A chr2 165956845 165956845 A G het . 43 +intronic SCN3A chr2 165994859 165994859 T G het . 6 +exonic SCN3A chr2 166003293 166003293 C A het . 32 +intronic SCN2A chr2 166141001 166141001 A C het . 2 +intronic SCN2A chr2 166141012 166141012 C A het . 2 +intronic SCN2A chr2 166164216 166164216 A - het . 6 +intronic SCN2A chr2 166226978 166226978 A G het . 2 +intronic SCN2A chr2 166226990 166226990 T A het . 1 +intergenic SCN2A(dist=64943),CSRNP3(dist=12394) chr2 166313763 166313763 G C het . 2 +UTR5 CSRNP3(NM_001172173:c.-5C>A,NM_024969:c.-5C>A) chr2 166451571 166451571 C A het . 15 +intronic GALNT3 chr2 166615555 166615555 C T het . 17 +exonic GALNT3 chr2 166615896 166615896 C A het . 39 +intronic GALNT3 chr2 166618262 166618262 C T het . 27 +exonic GALNT3 chr2 166618424 166618424 C A het . 46 +intronic TTC21B chr2 166775662 166775662 - T het . 8 +intronic TTC21B chr2 166781242 166781242 - A het . 15 +intronic TTC21B chr2 166810161 166810161 - CCCGCTCA het . 16 +ncRNA_intronic LOC102724058 chr2 166889979 166889979 - C het . 2 +ncRNA_intronic LOC102724058 chr2 166889996 166889996 C T het . 2 +intronic SCN1A chr2 166895914 166895916 TTT - het . 19 +intronic SCN1A chr2 166897989 166897989 - A het . 9 +intronic SCN1A chr2 166898017 166898017 G T het . 11 +intronic SCN1A chr2 166901989 166901989 T - het . 7 +intronic SCN1A chr2 166905375 166905375 A G het . 21 +ncRNA_intronic LOC101929680 chr2 166954841 166954841 G T het . 3 +ncRNA_intronic LOC101929680 chr2 167060981 167060984 AAAC - het . 11 +intronic SCN9A chr2 167160915 167160915 T G het . 10 +intronic SCN9A chr2 167162119 167162119 T C het . 5 +intronic SCN9A chr2 167163663 167163663 C T het . 16 +intronic SCN9A chr2 167176877 167176877 C T het . 1 +intronic SCN9A chr2 167205637 167205640 AAAC - het . 9 +intronic SCN9A chr2 167205701 167205701 C T het . 9 +intronic SCN9A chr2 167206514 167206514 T A het . 2 +intronic SCN7A chr2 167273603 167273603 C A het . 7 +intronic SCN7A chr2 167313338 167313341 ATAG - het . 10 +intergenic SCN7A(dist=113334),XIRP2(dist=288182) chr2 167456815 167456815 A G het . 3 +intergenic SCN7A(dist=276370),XIRP2(dist=125146) chr2 167619851 167619851 A T het . 1 +intronic XIRP2 chr2 167854787 167854787 C T het . 3 +intronic XIRP2 chr2 167899886 167899886 A G het . 2 +ncRNA_intronic XIRP2-AS1 chr2 167986380 167986380 A - het . 4 +ncRNA_intronic XIRP2-AS1 chr2 167986391 167986391 A G het . 4 +intronic XIRP2 chr2 168030049 168030049 C T het . 3 +exonic XIRP2 chr2 168110647 168110647 C T het . 14 +intergenic XIRP2(dist=68975),LOC105616981(dist=486048) chr2 168185236 168185236 A G het . 1 +intergenic XIRP2(dist=223605),LOC105616981(dist=331418) chr2 168339866 168339866 T G het . 1 +intergenic XIRP2(dist=354267),LOC105616981(dist=200756) chr2 168470528 168470528 G A het . 2 +intergenic XIRP2(dist=356334),LOC105616981(dist=198687) chr2 168472595 168472597 AAG - het . 2 +intergenic XIRP2(dist=454094),LOC105616981(dist=100929) chr2 168570355 168570355 T C het . 40 +intergenic XIRP2(dist=454510),LOC105616981(dist=100513) chr2 168570771 168570771 G A het . 18 +intergenic XIRP2(dist=476494),LOC105616981(dist=78529) chr2 168592755 168592755 T C het . 2 +intronic STK39 chr2 168861927 168861927 A - het . 2 +intergenic STK39(dist=169513),CERS6(dist=39141) chr2 169273618 169273618 A T het . 2 +intronic CERS6 chr2 169520281 169520281 - A het . 2 +intronic CERS6 chr2 169622280 169622280 C T het . 8 +intronic CERS6 chr2 169623949 169623949 A T het . 2 +intronic NOSTRIN chr2 169647418 169647418 G A het . 2 +intronic NOSTRIN chr2 169681278 169681278 - TTTGTTTG het . 5 +exonic NOSTRIN chr2 169721377 169721377 G A het . 25 +intronic SPC25 chr2 169728070 169728072 AAA - het . 5 +intronic G6PC2 chr2 169758248 169758248 T - het . 5 +intronic ABCB11 chr2 169828995 169828995 C T het . 1 +exonic LRP2 chr2 170019097 170019097 G A het . 35 +intronic LRP2 chr2 170025340 170025340 C T het . 5 +intronic LRP2 chr2 170060793 170060793 - A het . 24 +intronic LRP2 chr2 170070539 170070539 G C het . 4 +intronic LRP2 chr2 170113034 170113034 G T het . 4 +intronic LRP2 chr2 170115856 170115857 AA - het . 6 +intronic LRP2 chr2 170151406 170151409 AATC - het . 3 +intergenic LRP2(dist=73915),BBS5(dist=42969) chr2 170293037 170293037 T - het . 2 +intronic BBS5 chr2 170360902 170360902 C A het . 43 +intronic FASTKD1 chr2 170391981 170391981 G A het . 1 +intronic FASTKD1 chr2 170391985 170391985 A G het . 1 +intronic FASTKD1 chr2 170393925 170393925 G A het . 16 +intronic FASTKD1 chr2 170413525 170413525 A - het . 11 +exonic FASTKD1 chr2 170413733 170413733 C A het . 39 +intronic PPIG chr2 170446879 170446879 A G het . 2 +intronic PPIG chr2 170448777 170448777 T C het . 2 +intronic PPIG chr2 170448782 170448782 C T het . 2 +intronic PPIG chr2 170460823 170460823 T G het . 3 +intronic PPIG chr2 170462148 170462148 - T het . 2 +intronic PPIG chr2 170462149 170462149 G A het . 2 +intronic PPIG chr2 170465957 170465958 AT - het . 2 +intronic CCDC173 chr2 170523522 170523522 T A het . 8 +exonic KLHL23,PHOSPHO2-KLHL23 chr2 170592709 170592709 A G het . 3 +intergenic PHOSPHO2-KLHL23(dist=24564),SSB(dist=22362) chr2 170632960 170632960 - A het . 20 +intergenic PHOSPHO2-KLHL23(dist=24573),SSB(dist=22353) chr2 170632969 170632969 C A het . 26 +intronic SSB chr2 170668106 170668106 G A het . 8 +intronic METTL5 chr2 170668813 170668813 C T het . 3 +intronic METTL5 chr2 170677855 170677855 - T het . 4 +intronic UBR3 chr2 170707613 170707613 G A het . 4 +intronic UBR3 chr2 170734871 170734871 - A het . 3 +intronic UBR3 chr2 170734893 170734893 A C het . 3 +intronic UBR3 chr2 170770833 170770833 G C het . 3 +intronic UBR3 chr2 170783093 170783099 AAAAACA - het . 13 +intronic UBR3 chr2 170784049 170784049 G A het . 8 +intronic UBR3 chr2 170785129 170785129 A G het . 7 +intronic UBR3 chr2 170785148 170785148 C A het . 12 +intronic UBR3 chr2 170870595 170870595 T C het . 3 +intergenic UBR3(dist=28401),MYO3B(dist=65615) chr2 170969040 170969040 T C het . 3 +exonic MYO3B chr2 171225761 171225761 C A het . 15 +intronic MYO3B chr2 171243920 171243920 C G het . 2 +intronic MYO3B chr2 171300273 171300273 - TTAC het . 2 +intronic MYO3B chr2 171458544 171458544 C A het . 18 +exonic SP5 chr2 171573185 171573185 G T het . 12 +ncRNA_intronic LOC101926913 chr2 171580401 171580401 T - het . 2 +ncRNA_intronic LOC101926913 chr2 171608871 171608871 C T het . 11 +ncRNA_intronic LOC101926913 chr2 171609243 171609243 T C het . 8 +ncRNA_intronic LOC101926913 chr2 171609250 171609250 C G het . 8 +intronic GAD1 chr2 171675381 171675381 A G het . 2 +intergenic GAD1(dist=15819),GORASP2(dist=51470) chr2 171733478 171733478 C T het . 1 +intergenic GAD1(dist=65865),GORASP2(dist=1421) chr2 171783524 171783527 AAGG - het . 2 +intronic GORASP2 chr2 171790707 171790707 C T het . 2 +intronic GORASP2 chr2 171818289 171818289 G A het . 9 +intergenic GORASP2(dist=1702),TLK1(dist=21988) chr2 171825345 171825345 C T het . 1 +exonic TLK1 chr2 171863395 171863395 C A het . 17 +intronic TLK1 chr2 171962771 171962771 G A het . 2 +intronic TLK1 chr2 172074809 172074809 A C het . 2 +intergenic TLK1(dist=21290),METTL8(dist=63142) chr2 172109114 172109114 C T het . 3 +intronic METTL8 chr2 172194080 172194080 T A het . 16 +intronic DCAF17 chr2 172305520 172305520 T - het . 7 +intronic DCAF17 chr2 172309577 172309577 C A het . 5 +UTR3 DCAF17(NM_001164821:c.*1555delT,NM_025000:c.*1555delT) chr2 172339179 172339179 T - het . 12 +intergenic DCAF17(dist=6833),CYBRD1(dist=30362) chr2 172348395 172348395 A G het . 16 +intergenic DCAF17(dist=6837),CYBRD1(dist=30358) chr2 172348399 172348399 C T het . 14 +intergenic DCAF17(dist=32558),CYBRD1(dist=4637) chr2 172374120 172374120 G A het . 9 +UTR5 CYBRD1(NM_024843:c.-167C>G,NM_001127383:c.-167C>G) chr2 172378889 172378889 C G het . 4 +intronic CYBRD1 chr2 172410186 172410186 A G het . 11 +intergenic CYBRD1(dist=73662),DYNC1I2(dist=55614) chr2 172488305 172488305 C G het . 1 +intronic DYNC1I2 chr2 172582281 172582281 - TTAC het . 11 +intronic DYNC1I2 chr2 172584624 172584624 T - het . 3 +intronic SLC25A12 chr2 172693513 172693513 C A het . 17 +intronic SLC25A12 chr2 172712480 172712480 T C het . 40 +intronic METAP1D chr2 172879558 172879558 G A het . 1 +intergenic DLX2-DT(dist=15860),ITGA6(dist=301512) chr2 172990570 172990570 A G het . 2 +intergenic DLX2-DT(dist=194610),ITGA6(dist=122762) chr2 173169320 173169320 A G het . 2 +intergenic DLX2-DT(dist=194618),ITGA6(dist=122754) chr2 173169328 173169328 G A het . 2 +intergenic DLX2-DT(dist=252252),ITGA6(dist=65120) chr2 173226962 173226962 T C het . 1 +intergenic DLX2-DT(dist=307341),ITGA6(dist=10031) chr2 173282051 173282051 A G het . 2 +intronic ITGA6 chr2 173292709 173292709 A G het . 17 +intronic ITGA6 chr2 173292713 173292713 C T het . 17 +intronic ITGA6 chr2 173292728 173292728 T C het . 19 +intronic ITGA6 chr2 173332198 173332198 C T het . 29 +intronic ITGA6 chr2 173334161 173334161 - ATGATTTAGTACC het . 17 +intronic ITGA6 chr2 173337669 173337669 - T het . 7 +intronic ITGA6 chr2 173344538 173344538 C A het . 14 +intronic ITGA6 chr2 173355903 173355903 C A het . 34 +exonic ITGA6 chr2 173362737 173362737 C A het . 33 +intergenic PDK1(dist=5470),RAPGEF4-AS1(dist=118586) chr2 173469332 173469332 G A het . 2 +ncRNA_intronic RAPGEF4-AS1 chr2 173599819 173599819 G A het . 2 +ncRNA_intronic RAPGEF4-AS1 chr2 173600829 173600829 C A het . 8 +intronic RAPGEF4 chr2 173667166 173667166 G T het . 2 +exonic RAPGEF4 chr2 173832137 173832137 C A het . 9 +intronic MAP3K20 chr2 173942906 173942906 G A het . 4 +ncRNA_intronic MAP3K20-AS1 chr2 174094345 174094345 A T het . 14 +ncRNA_intronic MAP3K20-AS1 chr2 174123399 174123399 A G het . 9 +intergenic MAP3K20-AS1(dist=14102),CDCA7(dist=58695) chr2 174160866 174160866 G A het . 4 +intergenic MAP3K20-AS1(dist=14114),CDCA7(dist=58680) chr2 174160878 174160881 AAAC - het . 3 +intergenic CDCA7(dist=28844),SP3(dist=508625) chr2 174262562 174262562 C G het . 2 +intergenic CDCA7(dist=39193),SP3(dist=498276) chr2 174272911 174272911 - TTATT het . 2 +intergenic CDCA7(dist=116645),SP3(dist=420824) chr2 174350363 174350363 T A het . 3 +intergenic CDCA7(dist=532204),SP3(dist=5262) chr2 174765922 174765925 AGAT - het . 2 +intronic SP3 chr2 174818513 174818513 A - het . 4 +intergenic SP3(dist=56947),LINC01960(dist=2631) chr2 174887377 174887377 - AA het . 2 +UTR3 OLA1(NM_013341:c.*170_*171insT,NM_001328688:c.*170_*171insT,NM_001011708:c.*170_*171insT) chr2 174939983 174939983 - A het . 4 +intronic OLA1 chr2 175077961 175077961 G A het . 3 +intronic CIR1 chr2 175246387 175246387 A - het . 11 +UTR3 SCRN3(NM_001193528:c.*61A>T,NM_024583:c.*61A>T) chr2 175292684 175292684 A T het . 8 +intergenic GPR155(dist=28840),RNU6-2(dist=42038) chr2 175380656 175380656 A G het . 1 +intergenic GPR155(dist=61560),RNU6-2(dist=9318) chr2 175413376 175413376 G A het . 3 +intergenic GPR155(dist=61565),RNU6-2(dist=9313) chr2 175413381 175413381 T G het . 1 +intergenic GPR155(dist=61571),RNU6-2(dist=9307) chr2 175413387 175413387 A C het . 1 +intergenic GPR155(dist=65860),RNU6-2(dist=5018) chr2 175417676 175417676 G T het . 1 +intronic WIPF1 chr2 175439682 175439682 A - het . 19 +intronic CHRNA1 chr2 175614909 175614911 AAA - het . 11 +exonic CHRNA1 chr2 175622386 175622386 G A het . 33 +intronic CHRNA1 chr2 175628971 175628971 G A het . 8 +intronic ATF2 chr2 175957533 175957533 A C het . 8 +intronic ATF2 chr2 175957537 175957537 C T het . 8 +intronic ATP5MC3 chr2 176044008 176044008 G T het . 6 +intergenic ATP5MC3(dist=41445),LNPK(dist=700685) chr2 176087935 176087935 C T het . 2 +intergenic ATP5MC3(dist=177405),LNPK(dist=564725) chr2 176223895 176223895 G T het . 2 +intergenic ATP5MC3(dist=256145),LNPK(dist=485985) chr2 176302635 176302635 A T het . 3 +intergenic ATP5MC3(dist=679782),LNPK(dist=62348) chr2 176726272 176726272 C A het . 2 +intergenic ATP5MC3(dist=679804),LNPK(dist=62325) chr2 176726294 176726295 AA TT het . 2 +UTR3 LNPK(NM_030650:c.*5284_*5285insG,NM_001305009:c.*5284_*5285insG,NM_001305008:c.*5284_*5285insG,NM_001305011:c.*5284_*5285insG,NM_001305010:c.*5284_*5285insG) chr2 176789410 176789410 - C het . 2 +UTR3 LNPK(NM_030650:c.*5280delT,NM_001305009:c.*5280delT,NM_001305008:c.*5280delT,NM_001305011:c.*5280delT,NM_001305010:c.*5280delT) chr2 176789415 176789415 A - het . 2 +UTR3 LNPK(NM_030650:c.*5268T>G,NM_001305009:c.*5268T>G,NM_001305008:c.*5268T>G,NM_001305011:c.*5268T>G,NM_001305010:c.*5268T>G) chr2 176789427 176789427 A C het . 2 +exonic LNPK chr2 176805795 176805795 A C het . 7 +exonic HOXD8 chr2 176995146 176995148 GCG - het . 10 +intronic HOXD8 chr2 176996023 176996023 C T het . 7 +intergenic HOXD1(dist=52423),MTX2(dist=26065) chr2 177108058 177108058 C T het . 1 +intronic MTX2 chr2 177185424 177185424 T - het . 2 +intronic MTX2 chr2 177185453 177185453 T C het . 2 +ncRNA_intronic LINC01117 chr2 177507377 177507377 A G het . 2 +intergenic LINC01117(dist=49370),HNRNPA3(dist=507366) chr2 177570056 177570056 T A het . 3 +intergenic LINC01117(dist=150206),HNRNPA3(dist=406530) chr2 177670892 177670892 C A het . 1 +intergenic LINC01117(dist=150225),HNRNPA3(dist=406511) chr2 177670911 177670911 T C het . 2 +intergenic LINC01117(dist=152735),HNRNPA3(dist=404001) chr2 177673421 177673421 C T het . 1 +intergenic LINC01117(dist=341047),HNRNPA3(dist=215689) chr2 177861733 177861733 G A het . 2 +intergenic LINC01117(dist=428578),HNRNPA3(dist=128158) chr2 177949264 177949264 T C het . 2 +intergenic LINC01117(dist=522265),HNRNPA3(dist=34471) chr2 178042951 178042951 G A het . 3 +intronic HNRNPA3 chr2 178081123 178081123 T G het . 10 +exonic NFE2L2 chr2 178096564 178096564 C A het . 24 +intergenic NFE2L2(dist=9001),LOC100130691(dist=9376) chr2 178138860 178138860 A G het . 2 +intronic AGPS chr2 178323810 178323810 A G het . 2 +intronic AGPS chr2 178358072 178358072 C T het . 9 +intronic AGPS chr2 178362572 178362572 G A het . 13 +intronic AGPS chr2 178364328 178364328 - T het . 23 +intronic AGPS chr2 178370040 178370040 T C het . 13 +exonic TTC30B chr2 178416682 178416682 A T het . 12 +intergenic TTC30B(dist=41801),TTC30A(dist=19701) chr2 178459325 178459325 G C het . 3 +intergenic TTC30B(dist=53327),TTC30A(dist=8175) chr2 178470851 178470851 T A het . 2 +exonic PDE11A chr2 178494173 178494173 - GGA het . 31 +intronic PDE11A chr2 178534534 178534534 G C het . 2 +ncRNA_intronic LOC105373764 chr2 178561865 178561865 T C het . 2 +intronic RBM45 chr2 178986132 178986132 C T het . 4 +intergenic RBM45(dist=42689),OSBPL6(dist=22137) chr2 179037071 179037071 A G het . 2 +intergenic RBM45(dist=60116),OSBPL6(dist=4710) chr2 179054498 179054498 G T het . 2 +ncRNA_intronic LOC101927027,MIR548N chr2 179301056 179301057 AG - het . 29 +exonic PRKRA chr2 179308023 179308023 A C het . 21 +ncRNA_intronic MIR548N chr2 179363659 179363659 A G het . 4 +ncRNA_intronic MIR548N chr2 179363685 179363685 C T het . 4 +ncRNA_intronic MIR548N chr2 179363910 179363910 T - het . 15 +ncRNA_intronic MIR548N chr2 179366093 179366093 C T het . 4 +exonic TTN chr2 179395953 179395953 C A het . 32 +exonic TTN chr2 179395958 179395958 T C het . 32 +exonic TTN chr2 179407977 179407977 G A het . 17 +exonic TTN chr2 179439952 179439952 C T het . 19 +exonic TTN chr2 179442483 179442483 T C het . 18 +ncRNA_intronic MIR548N,TTN-AS1 chr2 179481361 179481361 A - het . 15 +ncRNA_intronic MIR548N chr2 179529808 179529808 T G het . 13 +ncRNA_intronic MIR548N chr2 179535702 179535702 C A het . 6 +intronic TTN chr2 179563644 179563644 A - het . 11 +intronic TTN chr2 179563659 179563659 G A het . 11 +intronic TTN chr2 179563669 179563669 G A het . 13 +intronic TTN chr2 179566092 179566092 T - het . 5 +intronic TTN chr2 179566126 179566126 G T het . 3 +intronic TTN chr2 179582162 179582162 C T het . 2 +intronic TTN chr2 179588063 179588063 C A het . 13 +exonic TTN chr2 179600382 179600382 C A het . 28 +exonic TTN chr2 179604803 179604803 C A het . 21 +exonic TTN chr2 179612465 179612465 G A het . 24 +exonic TTN chr2 179614150 179614150 C A het . 37 +intronic TTN chr2 179616771 179616772 AA - het . 14 +intronic TTN chr2 179619397 179619397 G C het . 1 +exonic TTN chr2 179621249 179621249 C A het . 10 +intronic TTN chr2 179623939 179623939 T C het . 30 +ncRNA_exonic LOC101927055 chr2 179642925 179642925 T C het . 4 +intronic TTN chr2 179647963 179647967 TATAT - het . 13 +exonic TTN chr2 179650701 179650701 C T het . 28 +exonic TTN chr2 179650715 179650715 C T het . 32 +intronic TTN chr2 179656746 179656746 C A het . 28 +intronic CCDC141 chr2 179736850 179736850 C T het . 11 +intronic CCDC141 chr2 179737144 179737144 C A het . 3 +intronic CCDC141 chr2 179743027 179743027 - TTTA het . 6 +intronic CCDC141 chr2 179747078 179747078 A G het . 1 +intronic CCDC141 chr2 179826241 179826241 A G het . 12 +intergenic CCDC141(dist=34418),SESTD1(dist=17215) chr2 179949204 179949204 - T het . 2 +intronic SESTD1 chr2 179988395 179988395 - A het . 7 +intronic SESTD1 chr2 180014000 180014000 A G het . 16 +intronic ZNF385B chr2 180383498 180383498 C A het . 3 +intronic ZNF385B chr2 180385898 180385903 TTTTTG - het . 2 +intronic ZNF385B chr2 180463312 180463312 T C het . 2 +intronic CWC22 chr2 180823590 180823590 C T het . 6 +intronic CWC22 chr2 180835053 180835053 A T het . 3 +intergenic CWC22(dist=21561),SCHLAP1(dist=663490) chr2 180893341 180893341 G A het . 2 +intergenic CWC22(dist=90534),SCHLAP1(dist=594517) chr2 180962314 180962314 G C het . 3 +intergenic CWC22(dist=120227),SCHLAP1(dist=564824) chr2 180992007 180992007 C A het . 1 +intergenic CWC22(dist=148775),SCHLAP1(dist=536276) chr2 181020555 181020555 - T het . 2 +intergenic CWC22(dist=193619),SCHLAP1(dist=491432) chr2 181065399 181065399 C T het . 2 +intergenic CWC22(dist=264970),SCHLAP1(dist=420081) chr2 181136750 181136750 T C het . 2 +intergenic CWC22(dist=397755),SCHLAP1(dist=287296) chr2 181269535 181269535 A G het . 2 +intergenic CWC22(dist=420622),SCHLAP1(dist=264429) chr2 181292402 181292402 G A het . 2 +ncRNA_intronic SCHLAP1 chr2 181738180 181738180 - GCGCCGCGCTGGAGCA het . 10 +intronic UBE2E3 chr2 181880741 181880741 C G het . 1 +intronic UBE2E3 chr2 181895036 181895036 A G het . 6 +ncRNA_intronic LINC01934 chr2 182044183 182044186 TTTT - het . 2 +ncRNA_intronic LINC01934 chr2 182077203 182077206 ACTC - het . 1 +intronic ITGA4 chr2 182339828 182339828 A C het . 14 +intronic ITGA4 chr2 182344846 182344846 - T het . 13 +intronic ITGA4 chr2 182399497 182399497 - TT het . 9 +intronic CERKL chr2 182403792 182403792 - T het . 25 +intronic CERKL chr2 182413259 182413259 A G het . 25 +intronic CERKL chr2 182478665 182478665 T C het . 2 +intronic PPP1R1C chr2 182918506 182918509 TTTA - het . 2 +intronic PPP1R1C chr2 182927319 182927319 C T het . 1 +intronic PDE1A chr2 183058986 183058986 A G het . 1 +intronic PDE1A chr2 183066377 183066377 - AAA het . 6 +intronic PDE1A chr2 183066391 183066391 C A het . 6 +intronic PDE1A chr2 183066394 183066394 C A het . 6 +intronic PDE1A chr2 183067732 183067732 T C het . 2 +intronic PDE1A chr2 183157900 183157900 A C het . 2 +intronic PDE1A chr2 183168640 183168640 T G het . 2 +intronic DNAJC10 chr2 183593882 183593882 - T het . 4 +intronic DNAJC10 chr2 183597063 183597063 T G het . 3 +intronic DNAJC10 chr2 183600806 183600806 - AAG het . 2 +exonic DNAJC10 chr2 183623948 183623948 G A het . 14 +intergenic DNAJC10(dist=13610),FRZB(dist=39645) chr2 183658360 183658360 A G het . 3 +intergenic NCKAP1(dist=24895),DUSP19(dist=14806) chr2 183928481 183928481 C T het . 2 +intergenic NCKAP1(dist=32281),DUSP19(dist=7420) chr2 183935867 183935867 G A het . 4 +intergenic DUSP19(dist=16307),NUP35(dist=1189) chr2 183981029 183981029 T A het . 2 +intergenic NUP35(dist=20555),MIR548AE1(dist=1196735) chr2 184046967 184046967 C T het . 3 +intergenic NUP35(dist=99130),MIR548AE1(dist=1118160) chr2 184125542 184125542 T A het . 9 +intergenic NUP35(dist=99161),MIR548AE1(dist=1118129) chr2 184125573 184125573 A G het . 10 +intergenic NUP35(dist=178384),MIR548AE1(dist=1038906) chr2 184204796 184204796 A T het . 2 +intergenic NUP35(dist=250474),MIR548AE1(dist=966816) chr2 184276886 184276886 C T het . 1 +intergenic NUP35(dist=802990),MIR548AE1(dist=414300) chr2 184829402 184829402 C A het . 1 +intergenic NUP35(dist=919735),MIR548AE1(dist=297555) chr2 184946147 184946147 T - het . 2 +intergenic NUP35(dist=1045634),MIR548AE1(dist=171656) chr2 185072046 185072046 A C het . 2 +intergenic NUP35(dist=1066433),MIR548AE1(dist=150857) chr2 185092845 185092845 - TTTTTATT het . 2 +intergenic NUP35(dist=1066438),MIR548AE1(dist=150852) chr2 185092850 185092850 C T het . 2 +intergenic NUP35(dist=1099300),MIR548AE1(dist=117990) chr2 185125712 185125712 A - het . 2 +intergenic NUP35(dist=1186529),MIR548AE1(dist=30761) chr2 185212941 185212941 T - het . 2 +intergenic NUP35(dist=1186539),MIR548AE1(dist=30751) chr2 185212951 185212951 A C het . 2 +exonic ZNF804A chr2 185802211 185802211 - ACA het . 32 +exonic ZNF804A chr2 185802243 185802243 C A het . 25 +intergenic LOC105373782(dist=120322),LOC101927196(dist=432480) chr2 186152121 186152121 - C het . 1 +intergenic LOC105373782(dist=120325),LOC101927196(dist=432477) chr2 186152124 186152124 A T het . 1 +intergenic LOC105373782(dist=417187),LOC101927196(dist=135615) chr2 186448986 186448986 T C het . 2 +intronic FSIP2 chr2 186611566 186611566 C A het . 12 +intronic FSIP2 chr2 186645771 186645771 T C het . 2 +exonic FSIP2 chr2 186655726 186655726 G A het . 19 +exonic FSIP2 chr2 186655975 186655975 C A het . 23 +intergenic FSIP2(dist=163519),LINC01473(dist=36726) chr2 186861535 186861535 T - het . 2 +intergenic LINC01473(dist=211975),ZC3H15(dist=187866) chr2 187163019 187163019 T C het . 2 +intronic ZC3H15 chr2 187351344 187351344 - TG het . 2 +intronic ZC3H15 chr2 187372205 187372205 A T het . 24 +intronic ZC3H15 chr2 187373146 187373146 G A het . 4 +intronic ITGAV chr2 187503226 187503226 T C het . 12 +intronic ITGAV chr2 187505486 187505486 A G het . 7 +intronic ITGAV chr2 187505703 187505703 A - het . 27 +intronic ITGAV chr2 187529824 187529825 TT - het . 7 +exonic FAM171B chr2 187559029 187559029 - CAG het . 15 +intergenic FAM171B(dist=27849),ZSWIM2(dist=35846) chr2 187656361 187656361 T A het . 2 +exonic ZSWIM2 chr2 187693034 187693034 C A het . 28 +intronic ZSWIM2 chr2 187709168 187709168 A G het . 2 +intergenic ZSWIM2(dist=25729),CALCRL(dist=467063) chr2 187739626 187739627 AT - het . 2 +intergenic ZSWIM2(dist=202348),CALCRL(dist=290445) chr2 187916245 187916245 G C het . 2 +intergenic ZSWIM2(dist=433405),CALCRL(dist=59388) chr2 188147302 188147302 A T het . 2 +intronic CALCRL chr2 188222928 188222928 T A het . 1 +intronic CALCRL chr2 188224009 188224009 C A het . 25 +intronic CALCRL chr2 188245640 188245640 G A het . 3 +intronic TFPI chr2 188348750 188348750 - TA het . 11 +intronic TFPI chr2 188399182 188399182 T C het . 2 +ncRNA_intronic LINC01090 chr2 188983813 188983813 T A het . 3 +intronic GULP1 chr2 189257389 189257389 A G het . 2 +intronic GULP1 chr2 189448932 189448944 ATTTAGCATTACA - het . 12 +intergenic GULP1(dist=19396),DIRC1(dist=118417) chr2 189480048 189480048 - TTG het . 2 +intergenic GULP1(dist=81036),DIRC1(dist=56777) chr2 189541688 189541688 A T het . 1 +intergenic GULP1(dist=107788),DIRC1(dist=30025) chr2 189568440 189568440 G A het . 3 +intronic DIRC1 chr2 189629714 189629714 G C het . 2 +intronic DIRC1 chr2 189629716 189629716 C T het . 2 +intronic DIRC1 chr2 189642219 189642219 C T het . 2 +intergenic DIRC1(dist=56959),COL3A1(dist=127309) chr2 189711790 189711790 A G het . 2 +intergenic DIRC1(dist=161838),COL3A1(dist=22430) chr2 189816669 189816669 A C het . 3 +intergenic DIRC1(dist=165890),COL3A1(dist=18378) chr2 189820721 189820721 A - het . 5 +intronic COL3A1 chr2 189852093 189852093 C A het . 9 +intronic COL3A1 chr2 189853489 189853489 A T het . 10 +intronic COL3A1 chr2 189857904 189857904 C A het . 9 +exonic COL3A1 chr2 189858127 189858127 C A het . 40 +intronic COL3A1 chr2 189860996 189860996 G A het . 5 +intronic COL3A1 chr2 189867311 189867311 T C het . 6 +intronic COL3A1 chr2 189868334 189868334 A G het . 22 +exonic COL5A2 chr2 189904038 189904038 C A het . 35 +intronic COL5A2 chr2 189917237 189917239 TTT AAA het . 4 +intronic COL5A2 chr2 189923401 189923401 T C het . 31 +intronic COL5A2 chr2 189923434 189923434 A C het . 25 +intronic COL5A2 chr2 189923631 189923632 TT - het . 30 +intronic COL5A2 chr2 189928999 189928999 - AAGTA het . 15 +intronic COL5A2 chr2 189943122 189943122 A - het . 3 +intronic COL5A2 chr2 189952632 189952632 G A het . 2 +intronic COL5A2 chr2 189953285 189953285 - AATG het . 16 +intronic COL5A2 chr2 189997838 189997838 G A het . 2 +intergenic COL5A2(dist=9092),WDR75(dist=252462) chr2 190053697 190053697 A T het . 3 +intergenic COL5A2(dist=44290),WDR75(dist=217264) chr2 190088895 190088895 - A het . 2 +intergenic COL5A2(dist=107244),WDR75(dist=154310) chr2 190151849 190151849 A C het . 2 +exonic WDR75 chr2 190334119 190334119 T A het . 44 +intergenic WDR75(dist=11328),SLC40A1(dist=73700) chr2 190351616 190351616 - TTTCT het . 4 +intronic SLC40A1 chr2 190436370 190436371 CC AT het . 21 +intronic SLC40A1 chr2 190442446 190442446 T C het . 2 +intergenic SLC40A1(dist=8721),ASDURF(dist=71867) chr2 190454258 190454258 A G het . 1 +intergenic SLC40A1(dist=73685),ASDURF(dist=6903) chr2 190519222 190519222 C A het . 2 +intronic ANKAR chr2 190541861 190541861 G T het . 1 +intronic ANKAR chr2 190572063 190572063 G A het . 2 +intronic ANKAR chr2 190603201 190603201 - A het . 5 +intronic ANKAR chr2 190603780 190603780 C T het . 2 +intronic OSGEPL1 chr2 190615177 190615177 G - het . 22 +intronic OSGEPL1 chr2 190615178 190615178 A T het . 22 +intergenic OSGEPL1-AS1(dist=1169),ORMDL1(dist=3542) chr2 190631451 190631451 A - het . 4 +intergenic OSGEPL1-AS1(dist=1177),ORMDL1(dist=3534) chr2 190631459 190631459 A C het . 5 +UTR3 ORMDL1(NM_001128150:c.*82G>C,NM_016467:c.*82G>C) chr2 190636411 190636411 C G het . 6 +intergenic PMS1(dist=114908),MSTN(dist=63163) chr2 190857263 190857263 - A het . 2 +intergenic PMS1(dist=121944),MSTN(dist=56127) chr2 190864299 190864299 G A het . 3 +exonic MSTN chr2 190922224 190922224 A T het . 34 +UTR5 MSTN(NM_005259:c.-99G>T) chr2 190927421 190927421 C A het . 14 +exonic C2orf88 chr2 191064753 191064753 C T het . 50 +intronic HIBCH chr2 191109870 191109870 C A het . 7 +intronic HIBCH chr2 191116438 191116438 - AT het . 1 +intronic INPP1 chr2 191231273 191231273 C A het . 2 +intergenic INPP1(dist=8680),MFSD6(dist=28010) chr2 191245071 191245071 C T het . 4 +intronic MFSD6 chr2 191290749 191290749 T C het . 3 +exonic MFSD6 chr2 191301518 191301518 G A het . 43 +intronic NAB1 chr2 191517090 191517090 A G het . 3 +intronic NAB1 chr2 191537538 191537538 - A het . 2 +intergenic NAB1(dist=163176),GLS(dist=24879) chr2 191720668 191720668 G C het . 2 +UTR5 GLS(NM_014905:c.-212_-210del-,NM_001256310:c.-212_-210del-) chr2 191745599 191745601 GCA - het . 18 +intronic GLS chr2 191766555 191766555 G A het . 14 +intronic GLS chr2 191774763 191774763 C T het . 3 +intronic STAT1 chr2 191841889 191841889 C A het . 9 +intronic STAT1 chr2 191848793 191848793 - A het . 7 +intronic STAT1 chr2 191872546 191872546 C A het . 19 +exonic STAT1 chr2 191873787 191873787 C A het . 42 +intronic STAT4 chr2 191899149 191899149 A - het . 5 +intronic STAT4 chr2 191920322 191920322 A G het . 2 +intronic STAT4 chr2 191942827 191942827 - A het . 2 +intronic STAT4 chr2 191987054 191987054 A - het . 2 +intergenic STAT4(dist=45490),MYO1B(dist=48190) chr2 192061812 192061812 T - het . 2 +intergenic STAT4(dist=59768),MYO1B(dist=33912) chr2 192076090 192076090 T C het . 2 +intronic MYO1B chr2 192253037 192253037 T C het . 2 +intronic MYO1B chr2 192283457 192283457 C T het . 2 +intergenic MYO1B(dist=24613),NABP1(dist=228070) chr2 192314728 192314728 T C het . 2 +intergenic MYO1B(dist=68854),NABP1(dist=183822) chr2 192358969 192358976 ACTCTTCT - het . 2 +intergenic MYO1B(dist=68863),NABP1(dist=183808) chr2 192358978 192358990 CGCTGCTCTTCCA - het . 2 +intergenic MYO1B(dist=71628),NABP1(dist=181055) chr2 192361743 192361743 A G het . 3 +intergenic MYO1B(dist=93851),NABP1(dist=158832) chr2 192383966 192383966 T G het . 1 +intergenic MYO1B(dist=115719),NABP1(dist=136963) chr2 192405834 192405835 AA - het . 2 +intergenic MYO1B(dist=116046),NABP1(dist=136637) chr2 192406161 192406161 T C het . 2 +intergenic MYO1B(dist=230478),NABP1(dist=22205) chr2 192520593 192520593 C T het . 1 +intergenic MYO1B(dist=232430),NABP1(dist=20253) chr2 192522545 192522545 C T het . 2 +intergenic LOC105747689(dist=32971),CAVIN2(dist=90866) chr2 192608166 192608166 C - het . 1 +intergenic LOC105747689(dist=61806),CAVIN2(dist=62031) chr2 192637001 192637001 T A het . 2 +intergenic LOC105747689(dist=87374),CAVIN2(dist=36463) chr2 192662569 192662569 C T het . 1 +intergenic LOC105747689(dist=88025),CAVIN2(dist=35812) chr2 192663220 192663220 A G het . 1 +exonic CAVIN2 chr2 192700777 192700777 A C het . 39 +intergenic CAVIN2(dist=20749),TMEFF2(dist=81017) chr2 192732755 192732755 - TTTA het . 2 +intergenic CAVIN2(dist=47714),TMEFF2(dist=54052) chr2 192759720 192759720 G T het . 1 +intronic TMEFF2 chr2 192815312 192815312 G C het . 16 +intronic TMEFF2 chr2 192815323 192815323 A G het . 17 +intronic TMEFF2 chr2 192815350 192815355 GAAGTT - het . 15 +intronic TMEFF2 chr2 192985843 192985843 - A het . 2 +intronic TMEFF2 chr2 193032057 193032057 G C het . 1 +intronic TMEFF2 chr2 193039979 193039979 T A het . 1 +intergenic TMEFF2(dist=54872),PCGEM1(dist=500040) chr2 193114531 193114531 C T het . 2 +intergenic TMEFF2(dist=142666),PCGEM1(dist=412246) chr2 193202325 193202325 C A het . 1 +intergenic TMEFF2(dist=200670),PCGEM1(dist=354242) chr2 193260329 193260329 C T het . 1 +intergenic TMEFF2(dist=200690),PCGEM1(dist=354222) chr2 193260349 193260349 C T het . 1 +intergenic TMEFF2(dist=234046),PCGEM1(dist=320866) chr2 193293705 193293705 A G het . 2 +intergenic TMEFF2(dist=297448),PCGEM1(dist=257464) chr2 193357107 193357107 A - het . 1 +intergenic TMEFF2(dist=328790),PCGEM1(dist=226122) chr2 193388449 193388449 A C het . 2 +intergenic TMEFF2(dist=550409),PCGEM1(dist=4503) chr2 193610068 193610068 G A het . 2 +intergenic PCGEM1(dist=342996),LINC01821(dist=1224372) chr2 193984621 193984621 A G het . 1 +intergenic PCGEM1(dist=364039),LINC01821(dist=1203329) chr2 194005664 194005664 A G het . 1 +intergenic PCGEM1(dist=394289),LINC01821(dist=1173079) chr2 194035914 194035914 T C het . 3 +intergenic PCGEM1(dist=445372),LINC01821(dist=1121994) chr2 194086997 194086999 AAG - het . 2 +intergenic PCGEM1(dist=850086),LINC01821(dist=717282) chr2 194491711 194491711 G A het . 1 +intergenic PCGEM1(dist=1095512),LINC01821(dist=471856) chr2 194737137 194737137 G A het . 2 +intergenic PCGEM1(dist=1095540),LINC01821(dist=471828) chr2 194737165 194737165 T C het . 2 +intergenic PCGEM1(dist=1098087),LINC01821(dist=469281) chr2 194739712 194739712 T A het . 2 +intergenic PCGEM1(dist=1100062),LINC01821(dist=467306) chr2 194741687 194741687 A C het . 3 +intergenic PCGEM1(dist=1225920),LINC01821(dist=341448) chr2 194867545 194867545 G A het . 2 +intergenic PCGEM1(dist=1314756),LINC01821(dist=252611) chr2 194956381 194956382 TG - het . 4 +intergenic PCGEM1(dist=1318385),LINC01821(dist=248983) chr2 194960010 194960010 C G het . 3 +intergenic PCGEM1(dist=1396804),LINC01821(dist=170564) chr2 195038429 195038429 G A het . 2 +intergenic PCGEM1(dist=1411537),LINC01821(dist=155831) chr2 195053162 195053162 - A het . 7 +intergenic PCGEM1(dist=1415308),LINC01821(dist=152060) chr2 195056933 195056933 T G het . 2 +intergenic PCGEM1(dist=1415323),LINC01821(dist=152045) chr2 195056948 195056948 T C het . 2 +intergenic PCGEM1(dist=1427206),LINC01821(dist=140162) chr2 195068831 195068831 T C het . 1 +intergenic PCGEM1(dist=1566008),LINC01821(dist=1360) chr2 195207633 195207633 - TT het . 1 +intergenic PCGEM1(dist=1566020),LINC01821(dist=1348) chr2 195207645 195207645 - AT het . 1 +ncRNA_intronic LINC01821 chr2 195227835 195227835 A G het . 2 +ncRNA_intronic LINC01821 chr2 195250383 195250383 G A het . 2 +intergenic LINC01821(dist=107595),LINC01790(dist=203369) chr2 195391950 195391950 T A het . 2 +intergenic LINC01821(dist=243253),LINC01790(dist=67711) chr2 195527608 195527608 C G het . 3 +intergenic LINC01821(dist=280492),LINC01790(dist=30472) chr2 195564847 195564847 T C het . 4 +intergenic LINC01821(dist=281592),LINC01790(dist=29372) chr2 195565947 195565947 A - het . 2 +intergenic LINC01790(dist=188012),SLC39A10(dist=707361) chr2 195814171 195814171 T A het . 2 +intergenic LINC01790(dist=253695),SLC39A10(dist=641678) chr2 195879854 195879854 A - het . 3 +intergenic LINC01790(dist=374733),SLC39A10(dist=520640) chr2 196000892 196000892 C T het . 2 +intergenic LINC01790(dist=426879),SLC39A10(dist=468494) chr2 196053038 196053038 C T het . 1 +intergenic LINC01790(dist=430790),SLC39A10(dist=464583) chr2 196056949 196056949 C A het . 2 +intergenic LINC01790(dist=433475),SLC39A10(dist=461898) chr2 196059634 196059634 A G het . 4 +intergenic LINC01790(dist=462335),SLC39A10(dist=433038) chr2 196088494 196088494 A G het . 2 +intergenic LINC01790(dist=753927),SLC39A10(dist=141446) chr2 196380086 196380086 C T het . 2 +intergenic LINC01790(dist=824292),SLC39A10(dist=71081) chr2 196450451 196450451 G A het . 1 +intergenic LINC01790(dist=824308),SLC39A10(dist=71065) chr2 196450467 196450467 T C het . 2 +intergenic LINC01790(dist=846925),SLC39A10(dist=48448) chr2 196473084 196473084 G A het . 1 +intergenic LINC01790(dist=849658),SLC39A10(dist=45715) chr2 196475817 196475817 T - het . 2 +intergenic LINC01790(dist=863787),SLC39A10(dist=31586) chr2 196489946 196489946 - AAAG het . 2 +intronic SLC39A10 chr2 196578314 196578314 T - het . 10 +intronic SLC39A10 chr2 196582816 196582816 T C het . 6 +UTR3 DNAH7(NM_018897:c.*196_*197insTAAA) chr2 196602448 196602448 - TTTA het . 3 +intronic DNAH7 chr2 196636341 196636341 T C het . 10 +exonic DNAH7 chr2 196729335 196729335 C A het . 32 +intronic DNAH7 chr2 196738264 196738264 A T het . 11 +intronic DNAH7 chr2 196762492 196762494 AAA - het . 10 +intronic DNAH7 chr2 196788189 196788189 T C het . 4 +exonic DNAH7 chr2 196851911 196851911 G A het . 19 +intronic DNAH7 chr2 196910030 196910030 - A het . 2 +intronic DNAH7 chr2 196910054 196910054 G C het . 3 +intronic DNAH7 chr2 196912354 196912354 - T het . 7 +intergenic DNAH7(dist=18641),STK17B(dist=46130) chr2 196952177 196952177 G T het . 4 +intergenic DNAH7(dist=47226),STK17B(dist=17541) chr2 196980762 196980766 AAAAG - het . 2 +exonic STK17B chr2 197002221 197002221 C T het . 20 +intronic STK17B chr2 197008112 197008112 - CAATA het . 7 +intronic STK17B chr2 197012458 197012458 - TT het . 1 +intronic STK17B chr2 197012460 197012460 A T het . 1 +intronic HECW2 chr2 197066175 197066175 T G het . 6 +intronic HECW2 chr2 197084672 197084672 T C het . 9 +intronic HECW2 chr2 197092767 197092767 A G het . 3 +intronic HECW2 chr2 197104929 197104929 G A het . 2 +intronic HECW2 chr2 197135434 197135434 T - het . 2 +intronic HECW2 chr2 197195644 197195644 C T het . 2 +intronic HECW2 chr2 197254887 197254887 T C het . 2 +intronic HECW2 chr2 197254889 197254889 T C het . 2 +intronic HECW2 chr2 197254937 197254937 C T het . 3 +intronic HECW2 chr2 197261859 197261864 AAAAAA - het . 2 +intronic CCDC150 chr2 197510998 197510998 G T het . 4 +intronic CCDC150 chr2 197521252 197521252 C T het . 3 +exonic CCDC150 chr2 197531519 197531519 A - het . 30 +intronic CCDC150 chr2 197586085 197586085 T C het . 2 +intronic GTF3C3 chr2 197662419 197662419 C A het . 13 +UTR3 PGAP1(NM_024989:c.*7322C>T,NM_001321099:c.*7322C>T,NM_001321100:c.*7322C>T) chr2 197698636 197698636 G A het . 2 +intronic PGAP1 chr2 197744885 197744885 A - het . 21 +intergenic PGAP1(dist=1849),ANKRD44(dist=58082) chr2 197793304 197793304 T C het . 2 +intronic ANKRD44 chr2 197862154 197862154 T C het . 4 +intronic ANKRD44 chr2 197872727 197872727 - TCTC het . 6 +intronic ANKRD44 chr2 197873563 197873563 T C het . 3 +intronic ANKRD44 chr2 197951615 197951615 C T het . 2 +intronic ANKRD44 chr2 197953373 197953377 AAGTC - het . 7 +intronic ANKRD44 chr2 197976362 197976362 - A het . 2 +intronic ANKRD44 chr2 197983343 197983343 G A het . 1 +intronic ANKRD44 chr2 197989945 197989945 T C het . 2 +intronic ANKRD44 chr2 198028787 198028787 T G het . 2 +ncRNA_intronic ANKRD44-IT1 chr2 198119114 198119114 C A het . 2 +ncRNA_intronic ANKRD44-IT1 chr2 198119123 198119123 C - het . 2 +ncRNA_intronic ANKRD44-IT1 chr2 198139633 198139633 T C het . 2 +intergenic ANKRD44(dist=43013),SF3B1(dist=38164) chr2 198218534 198218534 - GAAGTTATG het . 2 +intergenic ANKRD44(dist=43014),SF3B1(dist=38163) chr2 198218535 198218535 - CG het . 2 +intronic SF3B1 chr2 198265350 198265350 T C het . 6 +intronic SF3B1 chr2 198267770 198267770 - AA het . 34 +intronic SF3B1 chr2 198269306 198269306 T A het . 6 +exonic SF3B1 chr2 198269895 198269895 C A het . 28 +intronic SF3B1 chr2 198281776 198281776 C A het . 4 +intronic SF3B1 chr2 198293691 198293691 T C het . 2 +intronic COQ10B chr2 198318469 198318469 T G het . 8 +intronic COQ10B chr2 198338420 198338421 AA - het . 13 +intronic COQ10B chr2 198338436 198338436 C A het . 13 +intronic RFTN2 chr2 198520615 198520615 A G het . 2 +upstream RFTN2(dist=427) chr2 198541011 198541011 A - het . 2 +intronic PLCL1 chr2 198692321 198692321 - TAAT het . 3 +intronic PLCL1 chr2 198911166 198911166 C T het . 2 +intronic PLCL1 chr2 198956782 198956782 G T het . 3 +intergenic PLCL1(dist=67229),LINC01923(dist=82248) chr2 199081837 199081839 TTT - het . 1 +intergenic PLCL1(dist=85913),LINC01923(dist=63566) chr2 199100521 199100521 C A het . 2 +intergenic PLCL1(dist=85919),LINC01923(dist=63560) chr2 199100527 199100527 G T het . 1 +intergenic PLCL1(dist=103730),LINC01923(dist=45749) chr2 199118338 199118338 A G het . 3 +intergenic PLCL1(dist=119697),LINC01923(dist=29782) chr2 199134305 199134305 A - het . 4 +intergenic PLCL1(dist=141529),LINC01923(dist=7950) chr2 199156137 199156137 G A het . 2 +intergenic LINC01923(dist=58431),SATB2(dist=835971) chr2 199298252 199298252 C T het . 1 +intergenic LINC01923(dist=78951),SATB2(dist=815451) chr2 199318772 199318772 - CTTT het . 3 +intergenic LINC01923(dist=118382),SATB2(dist=776020) chr2 199358203 199358203 - T het . 2 +intergenic LINC01923(dist=176948),SATB2(dist=717454) chr2 199416769 199416769 A - het . 2 +intergenic LINC01923(dist=176959),SATB2(dist=717443) chr2 199416780 199416780 T G het . 2 +intergenic LINC01923(dist=301194),SATB2(dist=593208) chr2 199541015 199541015 T G het . 2 +intergenic LINC01923(dist=303016),SATB2(dist=591386) chr2 199542837 199542837 C A het . 2 +intergenic LINC01923(dist=461715),SATB2(dist=432687) chr2 199701536 199701536 T G het . 3 +intergenic LINC01923(dist=536948),SATB2(dist=357454) chr2 199776769 199776769 G C het . 2 +intergenic LINC01923(dist=555410),SATB2(dist=338992) chr2 199795231 199795231 A G het . 1 +intergenic LINC01923(dist=612421),SATB2(dist=281981) chr2 199852242 199852242 T C het . 2 +intergenic LINC01923(dist=638904),SATB2(dist=255498) chr2 199878725 199878725 A G het . 2 +intergenic LINC01923(dist=687319),SATB2(dist=207083) chr2 199927140 199927140 - A het . 2 +intergenic LINC01923(dist=748621),SATB2(dist=145781) chr2 199988442 199988442 G A het . 1 +intronic SATB2 chr2 200205152 200205152 C G het . 2 +exonic SATB2 chr2 200246533 200246533 C A het . 40 +intronic SATB2 chr2 200275096 200275096 C T het . 2 +intronic SATB2 chr2 200297940 200297940 G A het . 3 +intronic SATB2 chr2 200323353 200323353 C T het . 14 +intergenic SATB2-AS1(dist=28443),LINC01877(dist=106867) chr2 200365924 200365924 C T het . 2 +ncRNA_intronic LINC01877 chr2 200491187 200491187 G A het . 1 +ncRNA_exonic LINC01877 chr2 200494781 200494781 C G het . 2 +intergenic LINC01877(dist=14271),FTCDNL1(dist=87133) chr2 200538126 200538126 A C het . 2 +intronic FTCDNL1 chr2 200677663 200677663 T C het . 7 +exonic FTCDNL1 chr2 200684266 200684266 C A het . 10 +intergenic FTCDNL1(dist=14978),C2orf69(dist=45098) chr2 200730874 200730881 TTTGTTTG - het . 2 +intronic TYW5 chr2 200801361 200801361 C A het . 10 +intergenic MAIP1(dist=41717),SPATS2L(dist=300040) chr2 200870564 200870564 C A het . 20 +intergenic MAIP1(dist=44298),SPATS2L(dist=297444) chr2 200873145 200873160 ATACAAAAAAAACTTG - het . 19 +intergenic MAIP1(dist=249241),SPATS2L(dist=92516) chr2 201078088 201078088 T C het . 2 +intergenic MAIP1(dist=307935),SPATS2L(dist=33822) chr2 201136782 201136782 A C het . 2 +intergenic MAIP1(dist=322548),SPATS2L(dist=19208) chr2 201151395 201151396 AA - het . 2 +intergenic MAIP1(dist=326768),SPATS2L(dist=14989) chr2 201155615 201155615 T C het . 3 +intronic SPATS2L chr2 201173620 201173620 A G het . 6 +intronic KCTD18 chr2 201362424 201362424 T - het . 16 +intronic AOX1 chr2 201523736 201523736 A G het . 2 +ncRNA_intronic AOX3P-AOX2P chr2 201623635 201623635 G A het . 2 +intergenic BZW1(dist=13398),CLK1(dist=15760) chr2 201701972 201701972 T - het . 1 +intronic ORC2 chr2 201778733 201778733 C A het . 10 +intronic FAM126B chr2 201856291 201856291 - A het . 2 +intronic NDUFB3 chr2 201943496 201943496 T - het . 10 +intronic NDUFB3 chr2 201950167 201950167 T - het . 11 +intergenic NDUFB3(dist=24057),CFLAR(dist=6297) chr2 201974530 201974530 A - het . 3 +intronic CFLAR chr2 202004806 202004806 - C het . 8 +ncRNA_intronic CFLAR-AS1 chr2 202014589 202014589 C A het . 18 +UTR3 CASP10(NM_001306083:c.*101C>A) chr2 202065326 202065326 C A het . 7 +intronic CASP10 chr2 202073764 202073764 - T het . 9 +intronic CASP10 chr2 202082278 202082278 - A het . 26 +intronic CASP8 chr2 202137782 202137782 T - het . 3 +intronic TRAK2 chr2 202245945 202245946 AA - het . 3 +intronic TRAK2 chr2 202245955 202245955 A G het . 4 +intronic TRAK2 chr2 202246495 202246495 - T het . 3 +exonic C2CD6 chr2 202358886 202358886 C A het . 39 +intronic TMEM237 chr2 202505719 202505719 - T het . 12 +intronic TMEM237 chr2 202505740 202505740 T A het . 14 +intronic MPP4 chr2 202518762 202518762 C G het . 2 +intronic MPP4 chr2 202523347 202523347 C T het . 6 +intronic MPP4 chr2 202526589 202526589 T A het . 2 +intronic MPP4 chr2 202534524 202534524 C A het . 11 +intronic MPP4 chr2 202549685 202549685 A - het . 4 +exonic ALS2 chr2 202571733 202571733 C A het . 27 +exonic ALS2 chr2 202580435 202580435 C A het . 30 +intronic ALS2 chr2 202583442 202583442 C A het . 1 +intronic ALS2 chr2 202591769 202591769 - A het . 16 +intronic ALS2 chr2 202593930 202593930 A - het . 30 +intronic ALS2 chr2 202603794 202603794 T C het . 2 +intronic ALS2 chr2 202603837 202603837 C T het . 2 +intronic ALS2 chr2 202633726 202633727 AA - het . 8 +intronic ALS2 chr2 202635649 202635649 A C het . 2 +intronic CDK15 chr2 202694483 202694483 A T het . 2 +intronic CDK15 chr2 202741256 202741256 A T het . 21 +intronic CDK15 chr2 202742349 202742349 G C het . 2 +intronic CDK15 chr2 202753099 202753099 C A het . 23 +exonic FZD7 chr2 202899496 202899496 C T het . 19 +intergenic FZD7(dist=15836),KIAA2012(dist=18980) chr2 202918996 202918996 G A het . 3 +ncRNA_intronic LOC729224 chr2 202962311 202962311 T - het . 11 +intronic KIAA2012 chr2 203000730 203000730 A T het . 3 +intronic KIAA2012 chr2 203003066 203003066 - GTGT het . 10 +exonic KIAA2012 chr2 203061614 203061614 G A het . 56 +intronic SUMO1 chr2 203072693 203072693 A G het . 2 +upstream SUMO1(dist=867) chr2 203104189 203104189 - G het . 6 +intronic NOP58 chr2 203130941 203130941 G A het . 2 +intronic NOP58 chr2 203149027 203149027 T - het . 7 +intronic BMPR2 chr2 203382151 203382151 C T het . 4 +intronic BMPR2 chr2 203384776 203384776 - TT het . 20 +intronic BMPR2 chr2 203406833 203406833 A - het . 7 +intronic FAM117B chr2 203573929 203573929 T - het . 2 +intronic ICA1L chr2 203696607 203696607 A G het . 1 +intronic ICA1L chr2 203701557 203701557 C T het . 3 +intronic ICA1L chr2 203733551 203733551 C T het . 2 +intronic WDR12 chr2 203749392 203749392 - TTT het . 2 +intronic NBEAL1 chr2 203922572 203922572 C T het . 2 +intronic NBEAL1 chr2 204002809 204002809 A C het . 16 +exonic NBEAL1 chr2 204016260 204016260 G A het . 26 +intronic NBEAL1 chr2 204048823 204048823 - AAAC het . 1 +intronic NBEAL1 chr2 204048840 204048840 G A het . 2 +intronic CYP20A1 chr2 204111997 204111997 G A het . 2 +intronic CYP20A1 chr2 204154325 204154325 G A het . 1 +intronic CYP20A1 chr2 204154677 204154677 A T het . 2 +intronic CYP20A1 chr2 204154686 204154686 A G het . 2 +intergenic CYP20A1(dist=12897),ABI2(dist=9502) chr2 204183460 204183460 C T het . 2 +intronic ABI2 chr2 204198667 204198669 TTT - het . 3 +intronic ABI2 chr2 204216255 204216255 - T het . 9 +intronic ABI2 chr2 204249013 204249013 G T het . 2 +intronic ABI2 chr2 204249018 204249018 T G het . 2 +intronic RAPH1 chr2 204358740 204358740 A T het . 2 +intronic RAPH1 chr2 204359733 204359733 A T het . 3 +intronic RAPH1 chr2 204359736 204359736 G T het . 3 +intergenic RAPH1(dist=6775),CD28(dist=164364) chr2 204406834 204406834 G T het . 2 +intergenic RAPH1(dist=100095),CD28(dist=71044) chr2 204500154 204500154 G A het . 24 +intergenic CD28(dist=34070),CTLA4(dist=94777) chr2 204637706 204637717 TCATCATCATCA - het . 21 +intronic ICOS chr2 204821641 204821641 C A het . 8 +intergenic ICOS(dist=215194),PARD3B(dist=369024) chr2 205041492 205041492 C A het . 1 +intergenic ICOS(dist=298475),PARD3B(dist=285743) chr2 205124773 205124773 C T het . 2 +intergenic ICOS(dist=515774),PARD3B(dist=68444) chr2 205342072 205342072 G A het . 4 +intronic PARD3B chr2 205520150 205520150 G A het . 2 +intronic PARD3B chr2 205685553 205685553 - AAAC het . 3 +intronic PARD3B chr2 205917744 205917744 G T het . 2 +intronic PARD3B chr2 205988398 205988398 T A het . 1 +intronic PARD3B chr2 206041367 206041367 A - het . 4 +intronic PARD3B chr2 206219012 206219013 TA CC het . 2 +intronic PARD3B chr2 206222384 206222384 - A het . 2 +intronic PARD3B chr2 206250758 206250758 T C het . 2 +intronic PARD3B chr2 206348577 206348577 G T het . 1 +intronic PARD3B chr2 206470187 206470187 T C het . 2 +exonic NRP2 chr2 206562328 206562328 A C het . 24 +exonic NRP2 chr2 206562334 206562334 A C het . 27 +exonic NRP2 chr2 206562339 206562340 TA GG het . 27 +exonic NRP2 chr2 206641201 206641201 A C het . 23 +intergenic NRP2(dist=48734),INO80D(dist=146854) chr2 206711591 206711591 T A het . 3 +intergenic NRP2(dist=138967),INO80D(dist=56621) chr2 206801824 206801824 T C het . 1 +intronic INO80D chr2 206871991 206871991 C A het . 18 +intronic INO80D chr2 206877266 206877266 T C het . 3 +intronic INO80D chr2 206936985 206936985 G A het . 3 +intronic NDUFS1 chr2 206993437 206993437 T A het . 3 +intronic NDUFS1 chr2 206995081 206995082 TT - het . 22 +intronic NDUFS1 chr2 206995139 206995139 C A het . 9 +intronic NDUFS1 chr2 206997836 206997836 A - het . 27 +intronic NDUFS1 chr2 207014747 207014747 - TCTATCTA het . 13 +intronic EEF1B2 chr2 207026471 207026471 C T het . 3 +intronic EEF1B2 chr2 207026491 207026491 C T het . 2 +ncRNA_intronic GPR1-AS chr2 207077463 207077463 C T het . 1 +ncRNA_intronic GPR1-AS chr2 207111091 207111091 C A het . 4 +intergenic ZDBF2(dist=91343),ADAM23(dist=37875) chr2 207270493 207270493 G A het . 4 +intronic ADAM23 chr2 207414907 207414907 T G het . 18 +intronic ADAM23 chr2 207423645 207423645 T G het . 12 +intronic ADAM23 chr2 207431577 207431577 A - het . 2 +intronic ADAM23 chr2 207472573 207472573 A G het . 17 +intronic ADAM23 chr2 207472606 207472606 - T het . 16 +intronic DYTN chr2 207542897 207542897 G A het . 3 +exonic FASTKD2 chr2 207651584 207651584 C A het . 33 +intronic FASTKD2 chr2 207653456 207653459 AAAA - het . 24 +intergenic CPO(dist=27379),KLF7(dist=77284) chr2 207861577 207861578 AA - het . 6 +intergenic CPO(dist=56042),KLF7(dist=48622) chr2 207890240 207890240 A T het . 2 +intergenic LINC01802(dist=232726),CREB1(dist=26102) chr2 208368514 208368514 A T het . 2 +UTR3 CREB1(NM_004379:c.*1793delA,NM_134442:c.*1793delA) chr2 208463575 208463575 A - het . 3 +UTR5 METTL21A(NM_001308021:c.-16G>T,NM_001330136:c.-16G>T,NM_001330135:c.-16G>T,NM_001330133:c.-16G>T,NM_001330132:c.-16G>T,NM_001330131:c.-16G>T,NM_145280:c.-16G>T,NM_001127395:c.-16G>T,NM_001330137:c.-16G>T,NM_001330134:c.-16G>T,NM_001330130:c.-16G>T) chr2 208489115 208489115 C A het . 4 +intergenic METTL21A(dist=10168),LINC01857(dist=26163) chr2 208500945 208500945 C T het . 2 +intergenic METTL21A(dist=20291),LINC01857(dist=16040) chr2 208511068 208511068 C T het . 2 +intergenic METTL21A(dist=23566),LINC01857(dist=12765) chr2 208514343 208514343 G A het . 1 +intergenic METTL21A(dist=28671),LINC01857(dist=7660) chr2 208519448 208519448 A C het . 5 +intergenic METTL21A(dist=28685),LINC01857(dist=7646) chr2 208519462 208519462 T A het . 5 +intronic CCNYL1 chr2 208606876 208606877 AA - het . 9 +intergenic FZD5(dist=9804),PLEKHM3(dist=42065) chr2 208643947 208643947 - T het . 4 +intronic PLEKHM3 chr2 208700599 208700599 G T het . 2 +intergenic PLEKHM3(dist=5931),LOC100507443(dist=87638) chr2 208896215 208896215 A G het . 29 +intergenic PLEKHM3(dist=12985),LOC100507443(dist=80584) chr2 208903269 208903269 T A het . 1 +intergenic PLEKHM3(dist=87104),LOC100507443(dist=6465) chr2 208977388 208977388 A G het . 2 +ncRNA_intronic LOC100507443 chr2 208992766 208992766 A C het . 7 +intronic C2orf80 chr2 209035485 209035485 T G het . 2 +exonic C2orf80 chr2 209036712 209036712 T C het . 17 +intronic C2orf80 chr2 209037868 209037868 A C het . 1 +intronic C2orf80 chr2 209046162 209046162 G A het . 5 +intronic C2orf80 chr2 209046164 209046164 A G het . 5 +intronic C2orf80 chr2 209049829 209049829 - C het . 8 +intronic C2orf80 chr2 209049830 209049830 T C het . 8 +intronic C2orf80 chr2 209049840 209049840 C T het . 6 +intronic IDH1 chr2 209101906 209101906 A - het . 38 +intronic IDH1 chr2 209110007 209110007 A - het . 21 +intronic IDH1 chr2 209110376 209110376 G T het . 1 +intronic IDH1 chr2 209110386 209110386 T C het . 1 +intronic IDH1 chr2 209112045 209112045 C G het . 2 +intronic PIKFYVE chr2 209131576 209131576 A T het . 3 +intronic PIKFYVE chr2 209133343 209133343 A C het . 1 +intronic PIKFYVE chr2 209136928 209136928 C T het . 2 +exonic PIKFYVE chr2 209169714 209169714 C A het . 43 +exonic PIKFYVE chr2 209180013 209180013 C A het . 32 +intronic PIKFYVE chr2 209180234 209180234 - TTTG het . 8 +intronic PIKFYVE chr2 209180516 209180516 C T het . 3 +intronic PIKFYVE chr2 209191761 209191761 G A het . 1 +intronic PIKFYVE chr2 209195491 209195491 - AGA het . 17 +exonic PIKFYVE chr2 209215586 209215586 A G het . 30 +exonic PIKFYVE chr2 209215610 209215610 C A het . 33 +intronic PIKFYVE chr2 209219190 209219190 A G het . 23 +intronic PTH2R chr2 209230087 209230087 T C het . 1 +intronic PTH2R chr2 209345945 209345948 TTTT - het . 10 +ncRNA_intronic LOC101927960 chr2 209454490 209454490 - A het . 2 +ncRNA_intronic LOC101927960 chr2 209454495 209454495 T A het . 2 +ncRNA_intronic LOC101927960 chr2 209470820 209470820 A G het . 1 +ncRNA_intronic LOC101927960 chr2 209471061 209471061 C A het . 2 +intergenic LOC101927960(dist=327716),MAP2(dist=270744) chr2 210018027 210018027 C A het . 2 +intergenic LOC101927960(dist=449618),MAP2(dist=148842) chr2 210139929 210139929 A G het . 2 +intergenic LOC101927960(dist=511781),MAP2(dist=86679) chr2 210202092 210202092 - TCTT het . 2 +intergenic LOC101927960(dist=514159),MAP2(dist=84301) chr2 210204470 210204470 A C het . 2 +intergenic LOC101927960(dist=524169),MAP2(dist=74291) chr2 210214480 210214480 - TAT het . 3 +intronic MAP2 chr2 210345261 210345261 - GTTTGTTT het . 5 +intronic MAP2 chr2 210358391 210358391 C G het . 2 +exonic MAP2 chr2 210558755 210558755 C A het . 14 +intronic MAP2 chr2 210594768 210594768 T C het . 13 +downstream MAP2(dist=264) chr2 210599098 210599098 A G het . 3 +intronic UNC80 chr2 210673521 210673521 T G het . 2 +intronic RPE chr2 210868129 210868129 C A het . 19 +intronic RPE chr2 210882456 210882456 G T het . 5 +intronic RPE chr2 210882481 210882481 C T het . 6 +intronic KANSL1L chr2 210888632 210888632 C T het . 2 +intronic KANSL1L chr2 211018090 211018090 - A het . 7 +upstream KANSL1L(dist=625) chr2 211036719 211036719 - A het . 2 +intergenic ACADL(dist=52288),MYL1(dist=12365) chr2 211142503 211142503 C G het . 2 +intergenic ACADL(dist=52293),MYL1(dist=12360) chr2 211142508 211142508 - T het . 2 +intergenic ACADL(dist=52294),MYL1(dist=12359) chr2 211142509 211142509 G A het . 2 +ncRNA_intronic LANCL1-AS1 chr2 211266803 211266803 A G het . 1 +ncRNA_intronic LANCL1-AS1 chr2 211300507 211300507 C G het . 3 +intronic CPS1 chr2 211366405 211366405 A C het . 2 +exonic CPS1 chr2 211464179 211464179 T A het . 25 +intronic CPS1 chr2 211521228 211521230 TTT - het . 23 +intronic CPS1 chr2 211521417 211521417 - T het . 10 +intronic CPS1 chr2 211525447 211525447 C A het . 21 +intergenic CPS1(dist=73766),ERBB4(dist=622844) chr2 211617598 211617598 G A het . 2 +intergenic CPS1(dist=108180),ERBB4(dist=588430) chr2 211652012 211652012 C T het . 2 +intergenic CPS1(dist=311466),ERBB4(dist=385144) chr2 211855298 211855298 T G het . 2 +intergenic CPS1(dist=410927),ERBB4(dist=285683) chr2 211954759 211954759 G T het . 2 +intergenic CPS1(dist=600561),ERBB4(dist=96049) chr2 212144393 212144393 G A het . 1 +intergenic CPS1(dist=649264),ERBB4(dist=47335) chr2 212193096 212193107 TTTTTTTTTTTT - het . 1 +intergenic CPS1(dist=665022),ERBB4(dist=31588) chr2 212208854 212208854 C A het . 2 +intronic ERBB4 chr2 212252955 212252955 C T het . 4 +intronic ERBB4 chr2 212438431 212438431 T - het . 3 +intronic ERBB4 chr2 212506556 212506556 C T het . 1 +intronic ERBB4 chr2 212542728 212542729 TG CA het . 2 +intronic ERBB4 chr2 212544075 212544075 C A het . 9 +intronic ERBB4 chr2 212555823 212555823 T C het . 1 +intronic ERBB4 chr2 212578380 212578380 A - het . 25 +intronic ERBB4 chr2 212603081 212603081 - TTTTG het . 1 +intronic ERBB4 chr2 212615328 212615328 C A het . 22 +intronic ERBB4 chr2 212695738 212695738 A T het . 2 +intronic ERBB4 chr2 212871508 212871508 G A het . 1 +intronic ERBB4 chr2 212927257 212927257 C T het . 2 +intronic ERBB4 chr2 213016998 213016998 A C het . 1 +intronic ERBB4 chr2 213017019 213017019 C T het . 2 +intronic ERBB4 chr2 213091936 213091936 T C het . 2 +intergenic LINC01878(dist=46495),MIR4776-2(dist=60499) chr2 213730482 213730482 C T het . 1 +intergenic MIR4776-2(dist=17502),IKZF2(dist=55849) chr2 213808562 213808562 G T het . 3 +intergenic MIR4776-2(dist=26537),IKZF2(dist=46812) chr2 213817597 213817599 ATG - het . 20 +UTR3 IKZF2(NM_016260:c.*5370C>T,NM_001079526:c.*5370C>T) chr2 213866714 213866714 G A het . 2 +intronic IKZF2 chr2 213883603 213883603 G A het . 2 +intronic IKZF2 chr2 213892167 213892167 T C het . 2 +intronic IKZF2 chr2 214012405 214012405 A C het . 31 +downstream LOC100130451(dist=940) chr2 214139570 214139570 - AAAAAG het . 3 +intronic SPAG16 chr2 214180419 214180419 T - het . 2 +intronic SPAG16 chr2 214228959 214228959 G A het . 14 +exonic SPAG16 chr2 214354781 214354781 A T het . 26 +intronic SPAG16 chr2 214406839 214406839 G A het . 2 +intronic SPAG16 chr2 214513147 214513147 G A het . 1 +intronic SPAG16 chr2 214552990 214552990 A G het . 2 +intronic SPAG16 chr2 214576220 214576220 - T het . 2 +intronic SPAG16 chr2 214624952 214624952 A G het . 3 +intronic SPAG16 chr2 214624966 214624966 C A het . 3 +intronic SPAG16 chr2 214705921 214705921 C T het . 2 +intronic SPAG16 chr2 214739859 214739859 C G het . 2 +intronic SPAG16 chr2 214851813 214851813 C T het . 3 +intronic SPAG16 chr2 214856583 214856583 - TTTA het . 2 +intronic SPAG16 chr2 214951329 214951329 C T het . 3 +intronic SPAG16 chr2 215013801 215013801 - TATA het . 4 +intronic SPAG16 chr2 215066804 215066804 T C het . 2 +intronic SPAG16 chr2 215078808 215078808 A C het . 2 +intronic SPAG16 chr2 215150491 215150491 C T het . 1 +intronic SPAG16 chr2 215216499 215216499 T - het . 2 +intronic SPAG16 chr2 215226734 215226734 G A het . 2 +intronic SPAG16 chr2 215234040 215234040 C T het . 2 +intronic SPAG16 chr2 215267040 215267040 G T het . 3 +intronic VWC2L chr2 215292776 215292776 G A het . 2 +intronic VWC2L chr2 215302916 215302916 C G het . 2 +intronic VWC2L chr2 215319260 215319260 T G het . 2 +intergenic VWC2L(dist=48807),BARD1(dist=97887) chr2 215492483 215492483 C G het . 3 +intergenic VWC2L(dist=49965),BARD1(dist=96729) chr2 215493641 215493641 T G het . 3 +intergenic VWC2L(dist=76088),BARD1(dist=70606) chr2 215519764 215519764 A T het . 2 +intergenic VWC2L(dist=76143),BARD1(dist=70551) chr2 215519819 215519819 G A het . 2 +intergenic VWC2L(dist=77709),BARD1(dist=68985) chr2 215521385 215521385 G A het . 2 +intergenic VWC2L(dist=77719),BARD1(dist=68975) chr2 215521395 215521395 A G het . 1 +intergenic VWC2L(dist=113104),BARD1(dist=33590) chr2 215556780 215556780 C T het . 2 +intronic BARD1 chr2 215657183 215657184 AA - het . 10 +upstream BARD1,LOC101928103(dist=517) chr2 215674436 215674436 C T het . 10 +ncRNA_intronic LOC101928103 chr2 215765730 215765730 A C het . 2 +ncRNA_intronic LOC101928103 chr2 215802428 215802428 C A het . 25 +ncRNA_intronic LOC101928103 chr2 215821550 215821550 A - het . 18 +exonic ABCA12 chr2 215855494 215855494 C A het . 39 +intronic ABCA12 chr2 215876589 215876589 - T het . 9 +exonic ABCA12 chr2 215876751 215876751 C A het . 38 +intronic ABCA12 chr2 215879893 215879893 T - het . 4 +intronic ABCA12 chr2 215890312 215890312 A G het . 31 +intronic ABCA12 chr2 215890324 215890324 - T het . 23 +intronic ABCA12 chr2 215890353 215890354 TT - het . 21 +intronic ABCA12 chr2 215919166 215919166 G A het . 7 +intronic ABCA12 chr2 215976217 215976217 C A het . 31 +intronic ABCA12 chr2 215976231 215976231 A T het . 29 +intronic ATIC chr2 216184274 216184274 - T het . 22 +intronic ATIC chr2 216191333 216191333 A - het . 2 +intronic FN1 chr2 216226585 216226585 T - het . 13 +intronic FN1 chr2 216229779 216229779 T G het . 7 +intronic FN1 chr2 216230530 216230531 TT - het . 4 +intronic FN1 chr2 216230535 216230535 T A het . 4 +intronic FN1 chr2 216246080 216246080 A G het . 3 +intronic FN1 chr2 216256221 216256221 T G het . 6 +intronic FN1 chr2 216256227 216256227 G C het . 7 +intronic FN1 chr2 216269030 216269030 - TTTTG het . 15 +intronic FN1 chr2 216269046 216269046 G T het . 9 +intronic FN1 chr2 216274853 216274853 - AC het . 18 +intronic FN1 chr2 216295627 216295627 G A het . 28 +upstream LOC102724849(dist=684) chr2 216317746 216317746 A G het . 1 +intergenic LOC102724849(dist=36905),LINC00607(dist=110790) chr2 216365496 216365496 - CTTT het . 3 +intergenic LOC102724849(dist=37922),LINC00607(dist=109773) chr2 216366513 216366513 C A het . 2 +intergenic LOC102724849(dist=67023),LINC00607(dist=80672) chr2 216395614 216395614 G T het . 2 +intergenic LOC102724849(dist=141194),LINC00607(dist=6501) chr2 216469785 216469785 C T het . 2 +intergenic LOC102724849(dist=146275),LINC00607(dist=1420) chr2 216474866 216474866 A T het . 1 +ncRNA_intronic LINC00607 chr2 216488342 216488342 T - het . 2 +intergenic LINC00607(dist=77881),MREG(dist=21142) chr2 216786140 216786172 TTTTTTTTGTTTTTTGTTGTTGGTGGTGGTGTT - het . 3 +intronic MREG chr2 216817646 216817646 T C het . 3 +intronic MREG chr2 216859283 216859283 A - het . 2 +exonic XRCC5 chr2 216992282 216992282 G A het . 28 +exonic XRCC5 chr2 216997061 216997061 T A het . 43 +intronic XRCC5 chr2 217024698 217024698 T - het . 4 +intronic XRCC5 chr2 217025775 217025775 G A het . 1 +intergenic LINC01963(dist=19340),MARCH4(dist=18330) chr2 217104255 217104255 T A het . 7 +exonic MARCH4 chr2 217124328 217124328 C A het . 33 +exonic SMARCAL1 chr2 217280194 217280194 C T het . 41 +intronic SMARCAL1 chr2 217293606 217293606 C A het . 18 +intronic SMARCAL1 chr2 217329154 217329154 T C het . 13 +intronic SMARCAL1 chr2 217329433 217329433 A - het . 15 +intronic RPL37A chr2 217364144 217364144 T G het . 21 +intergenic RPL37A(dist=42536),LINC01280(dist=45992) chr2 217408724 217408724 T - het . 3 +intergenic RPL37A(dist=75763),LINC01280(dist=12765) chr2 217441951 217441951 G A het . 2 +intergenic LINC01280(dist=3333),IGFBP2(dist=22555) chr2 217474994 217474996 TTT - het . 11 +intergenic LINC01280(dist=3559),IGFBP2(dist=22331) chr2 217475220 217475220 C T het . 13 +intergenic LINC01280(dist=3815),IGFBP2(dist=22075) chr2 217475476 217475476 G T het . 15 +intergenic IGFBP5(dist=73041),TNP1(dist=90869) chr2 217633313 217633313 T C het . 2 +intergenic IGFBP5(dist=75900),TNP1(dist=88010) chr2 217636172 217636172 A C het . 4 +intergenic LINC01921(dist=145581),DIRC3-AS1(dist=265513) chr2 217881943 217881943 T C het . 2 +intergenic LINC01921(dist=148598),DIRC3-AS1(dist=262496) chr2 217884960 217884960 A G het . 2 +intergenic LINC01921(dist=217885),DIRC3-AS1(dist=193209) chr2 217954247 217954247 C A het . 2 +intergenic LINC01921(dist=398541),DIRC3-AS1(dist=12553) chr2 218134903 218134903 G T het . 1 +intergenic LINC01921(dist=398563),DIRC3-AS1(dist=12531) chr2 218134925 218134925 - G het . 2 +ncRNA_intronic DIRC3 chr2 218273453 218273453 A G het . 2 +ncRNA_intronic DIRC3 chr2 218411273 218411273 C T het . 4 +ncRNA_intronic DIRC3 chr2 218414521 218414521 C A het . 3 +ncRNA_intronic DIRC3 chr2 218537099 218537099 A G het . 1 +ncRNA_intronic DIRC3 chr2 218575929 218575929 G A het . 2 +ncRNA_intronic DIRC3 chr2 218577882 218577882 C T het . 9 +ncRNA_intronic DIRC3 chr2 218601552 218601552 A G het . 1 +ncRNA_intronic DIRC3 chr2 218604302 218604302 - A het . 7 +ncRNA_intronic DIRC3 chr2 218604356 218604356 G A het . 8 +intergenic DIRC3(dist=39376),TNS1(dist=3820) chr2 218660692 218660692 A C het . 1 +intronic TNS1 chr2 218670751 218670751 C - het . 2 +intronic TNS1 chr2 218670771 218670771 C T het . 2 +intronic TNS1 chr2 218694511 218694511 T - het . 15 +intronic TNS1 chr2 218694512 218694512 T G het . 15 +intergenic LOC105373878(dist=22996),CXCR2P1(dist=43544) chr2 218880334 218880334 G A het . 2 +intergenic RUFY4(dist=24814),CXCR2(dist=9895) chr2 218980118 218980118 G T het . 7 +intergenic CXCR2(dist=11876),CXCR1(dist=13716) chr2 219013852 219013852 G A het . 2 +intergenic CXCR1(dist=17972),ARPC2(dist=32129) chr2 219049688 219049688 G A het . 1 +intergenic CXCR1(dist=34768),ARPC2(dist=15333) chr2 219066484 219066484 G A het . 3 +intergenic CXCR1(dist=34802),ARPC2(dist=15299) chr2 219066518 219066518 T C het . 3 +intronic ARPC2 chr2 219096333 219096333 G C het . 1 +intronic ARPC2 chr2 219103314 219103316 TTT - het . 2 +UTR3 AAMP(NM_001302545:c.*196T>C,NM_001087:c.*196T>C) chr2 219129060 219129060 A G het . 1 +intronic PNKD chr2 219187901 219187901 C T het . 3 +intergenic CATIP(dist=11358),SLC11A1(dist=2577) chr2 219244175 219244175 C T het . 6 +intronic SLC11A1 chr2 219259547 219259547 G A het . 3 +intronic CTDSP1 chr2 219267913 219267913 A G het . 2 +intergenic CTDSP1(dist=3478),VIL1(dist=9696) chr2 219274142 219274142 G A het . 2 +intergenic CTDSP1(dist=4304),VIL1(dist=8870) chr2 219274968 219274968 T - het . 2 +intronic USP37 chr2 219320207 219320207 C A het . 11 +intronic USP37 chr2 219321693 219321693 A - het . 7 +intronic USP37 chr2 219337192 219337192 T - het . 2 +intronic USP37 chr2 219389236 219389236 A G het . 1 +intronic USP37 chr2 219393514 219393515 CC AA het . 2 +intronic CNOT9 chr2 219438351 219438354 TTTC - het . 2 +intronic CNOT9 chr2 219450297 219450297 - A het . 2 +intergenic CNOT9(dist=6350),PLCD4(dist=4980) chr2 219467508 219467508 A G het . 4 +exonic STK36 chr2 219549894 219549894 G A het . 27 +exonic PRKAG3 chr2 219688521 219688521 C A het . 29 +intronic PRKAG3 chr2 219693356 219693356 T G het . 4 +UTR5 WNT10A(NM_025216:c.-18C>T) chr2 219745700 219745700 C T het . 12 +exonic WNT10A chr2 219754729 219754729 T C het . 29 +upstream LINC01494(dist=984) chr2 219796343 219796343 A G het . 4 +exonic CFAP65 chr2 219903723 219903723 C T het . 17 +intergenic IHH(dist=4953),NHEJ1(dist=9855) chr2 219930191 219930191 C T het . 3 +intronic NHEJ1 chr2 220011306 220011306 C A het . 16 +exonic RETREG2 chr2 220046840 220046840 G A het . 30 +exonic RETREG2 chr2 220046975 220046975 C A het . 16 +UTR3 RETREG2(NM_024293:c.*115T>G,NM_001321109:c.*115T>G,NM_001321110:c.*115T>G) chr2 220047466 220047466 T G het . 3 +UTR3 RETREG2(NM_024293:c.*1771_*1774delCTGG,NM_001321109:c.*1771_*1774delCTGG,NM_001321110:c.*1771_*1774delCTGG) chr2 220049122 220049125 CTGG - het . 3 +intronic ZFAND2B chr2 220071803 220071803 C G het . 12 +intronic ABCB6 chr2 220078302 220078302 C A het . 21 +exonic ABCB6 chr2 220081416 220081416 G A het . 17 +exonic ANKZF1 chr2 220100787 220100787 C T het . 23 +exonic GLB1L chr2 220102673 220102673 G A het . 21 +exonic STK16 chr2 220111842 220111842 C A het . 15 +intergenic TUBA4B(dist=3167),DNAJB2(dist=3950) chr2 220140086 220140090 TTTTG - het . 3 +intergenic RESP18(dist=13154),DNPEP(dist=25695) chr2 220211053 220211056 TCTT - het . 2 +intergenic RESP18(dist=13195),DNPEP(dist=25657) chr2 220211094 220211094 G - het . 2 +intergenic RESP18(dist=26349),DNPEP(dist=12503) chr2 220224248 220224248 A - het . 2 +intronic DNPEP chr2 220240213 220240213 T C het . 3 +intronic DNPEP chr2 220250826 220250826 G A het . 4 +intronic DNPEP chr2 220250898 220250898 G - het . 4 +intronic DNPEP chr2 220264543 220264543 - AT het . 4 +intronic DES chr2 220283826 220283826 T G het . 16 +intronic DES chr2 220284717 220284717 G C het . 10 +intronic DES chr2 220284729 220284729 A C het . 11 +intronic DES chr2 220284744 220284744 A C het . 16 +intronic DES chr2 220284779 220284779 C T het . 27 +exonic DES chr2 220285666 220285666 G C het . 28 +exonic SPEG chr2 220312849 220312849 A C het . 11 +exonic SPEG chr2 220312871 220312871 A C het . 12 +intronic SPEG chr2 220330724 220330724 C T het . 14 +intronic SPEG chr2 220345340 220345340 C A het . 6 +exonic SPEG chr2 220355242 220355242 C T het . 14 +intronic SPEG chr2 220357272 220357272 C A het . 9 +exonic GMPPA chr2 220371058 220371058 A C het . 7 +exonic TMEM198 chr2 220414016 220414016 C T het . 21 +exonic TMEM198 chr2 220414019 220414019 T C het . 21 +exonic OBSL1 chr2 220435034 220435034 A G het . 14 +intronic INHA chr2 220438312 220438312 T C het . 1 +exonic INHA chr2 220439456 220439456 C A het . 14 +exonic INHA chr2 220440156 220440156 C A het . 13 +intergenic INHA(dist=6529),STK11IP(dist=15609) chr2 220446964 220446964 T C het . 1 +intronic STK11IP chr2 220480639 220480639 T C het . 8 +intronic STK11IP chr2 220480693 220480693 G C het . 3 +exonic SLC4A3 chr2 220502367 220502367 A C het . 6 +intronic SLC4A3 chr2 220502606 220502606 C T het . 3 +intergenic SLC4A3(dist=79773),LINC01803(dist=182297) chr2 220586475 220586475 T - het . 10 +intergenic SLC4A3(dist=138230),LINC01803(dist=123840) chr2 220644932 220644932 G A het . 3 +intergenic SLC4A3(dist=217346),LINC01803(dist=44724) chr2 220724048 220724048 A G het . 3 +intergenic SLC4A3(dist=219599),LINC01803(dist=42471) chr2 220726301 220726301 A G het . 2 +intergenic MIR4268(dist=272642),EPHA4(dist=1238819) chr2 221043928 221043928 T C het . 1 +intergenic MIR4268(dist=344450),EPHA4(dist=1167011) chr2 221115736 221115736 G T het . 4 +intergenic MIR4268(dist=395088),EPHA4(dist=1116373) chr2 221166374 221166374 T C het . 2 +intergenic MIR4268(dist=775426),EPHA4(dist=736035) chr2 221546712 221546712 - TTTTC het . 2 +intergenic MIR4268(dist=867860),EPHA4(dist=643601) chr2 221639146 221639146 G A het . 1 +intergenic MIR4268(dist=985857),EPHA4(dist=525604) chr2 221757143 221757143 C A het . 2 +intergenic MIR4268(dist=1063150),EPHA4(dist=448311) chr2 221834436 221834436 T C het . 2 +intergenic MIR4268(dist=1071389),EPHA4(dist=440072) chr2 221842675 221842675 C T het . 2 +intergenic MIR4268(dist=1073720),EPHA4(dist=437741) chr2 221845006 221845006 C T het . 2 +intergenic MIR4268(dist=1081198),EPHA4(dist=430263) chr2 221852484 221852484 T C het . 1 +intergenic MIR4268(dist=1137203),EPHA4(dist=374258) chr2 221908489 221908489 G A het . 3 +intergenic MIR4268(dist=1441757),EPHA4(dist=69704) chr2 222213043 222213043 A G het . 2 +intergenic MIR4268(dist=1443869),EPHA4(dist=67592) chr2 222215155 222215155 T - het . 2 +intergenic MIR4268(dist=1447249),EPHA4(dist=64212) chr2 222218535 222218535 T G het . 2 +intergenic MIR4268(dist=1452856),EPHA4(dist=58605) chr2 222224142 222224142 C A het . 1 +intergenic EPHA4(dist=32906),PAX3(dist=592778) chr2 222471828 222471828 T - het . 2 +intergenic EPHA4(dist=45012),PAX3(dist=580672) chr2 222483934 222483934 - ACAAA het . 3 +intergenic EPHA4(dist=120453),PAX3(dist=505231) chr2 222559375 222559375 G A het . 2 +intergenic EPHA4(dist=214214),PAX3(dist=411470) chr2 222653136 222653136 C A het . 2 +intergenic EPHA4(dist=385061),PAX3(dist=240623) chr2 222823983 222823983 T - het . 3 +intergenic EPHA4(dist=388736),PAX3(dist=236948) chr2 222827658 222827658 G T het . 22 +intergenic EPHA4(dist=429432),PAX3(dist=196252) chr2 222868354 222868354 T - het . 2 +intergenic EPHA4(dist=606396),PAX3(dist=19288) chr2 223045318 223045318 T A het . 4 +UTR3 PAX3(NM_181457:c.*86T>A) chr2 223066557 223066557 A T het . 10 +intronic PAX3 chr2 223160933 223160933 G A het . 2 +intronic PAX3 chr2 223161624 223161624 A G het . 10 +intronic CCDC140 chr2 223167619 223167619 A C het . 2 +intronic CCDC140 chr2 223167635 223167635 T C het . 1 +intergenic CCDC140(dist=7267),LOC440934(dist=5987) chr2 223177203 223177203 T C het . 1 +intronic SGPP2 chr2 223311047 223311047 - AAAC het . 1 +intronic SGPP2 chr2 223317837 223317837 - AAATATG het . 24 +intronic SGPP2 chr2 223354293 223354293 A T het . 1 +intronic SGPP2 chr2 223385437 223385437 C A het . 2 +intronic SGPP2 chr2 223406310 223406310 C A het . 4 +intronic SGPP2 chr2 223406314 223406317 TTTA - het . 4 +exonic FARSB chr2 223436724 223436724 C A het . 12 +intronic FARSB chr2 223496435 223496435 C A het . 14 +intronic FARSB chr2 223497854 223497854 C A het . 21 +intronic MOGAT1 chr2 223553731 223553731 G A het . 2 +intergenic MOGAT1(dist=19710),ACSL3(dist=131293) chr2 223594359 223594359 A G het . 2 +intergenic MOGAT1(dist=19723),ACSL3(dist=131280) chr2 223594372 223594372 A G het . 2 +intronic ACSL3 chr2 223769011 223769011 - A het . 2 +intronic ACSL3 chr2 223771337 223771338 TT - het . 2 +intronic ACSL3 chr2 223780921 223780921 G A het . 3 +intronic ACSL3 chr2 223781018 223781018 T - het . 9 +intronic ACSL3 chr2 223781018 223781018 T A het . 3 +intronic ACSL3 chr2 223783297 223783297 - G het . 2 +intronic ACSL3 chr2 223783299 223783299 T G het . 2 +intronic ACSL3 chr2 223789080 223789080 C G het . 6 +intronic ACSL3 chr2 223793471 223793471 C T het . 3 +intronic ACSL3 chr2 223793480 223793480 C T het . 5 +intronic ACSL3 chr2 223798062 223798062 C A het . 8 +intronic ACSL3 chr2 223806189 223806189 - T het . 9 +intronic ACSL3 chr2 223806194 223806194 C T het . 11 +intergenic ACSL3(dist=1242),KCNE4(dist=106037) chr2 223810611 223810611 - TTA het . 2 +intergenic ACSL3(dist=81955),KCNE4(dist=25324) chr2 223891324 223891324 A G het . 2 +exonic KCNE4 chr2 223917983 223917983 T G het . 24 +intergenic KCNE4(dist=50117),SCG2(dist=491184) chr2 223970474 223970474 G T het . 3 +intergenic KCNE4(dist=54808),SCG2(dist=486493) chr2 223975165 223975165 C T het . 1 +intergenic KCNE4(dist=59341),SCG2(dist=481960) chr2 223979698 223979698 A - het . 1 +intergenic KCNE4(dist=59344),SCG2(dist=481956) chr2 223979701 223979702 AA - het . 1 +intergenic KCNE4(dist=65843),SCG2(dist=475458) chr2 223986200 223986200 A G het . 1 +intergenic KCNE4(dist=118824),SCG2(dist=422467) chr2 224039181 224039191 AAAAAAAAAAA - het . 2 +intergenic KCNE4(dist=167840),SCG2(dist=373461) chr2 224088197 224088197 G A het . 2 +intergenic KCNE4(dist=205673),SCG2(dist=335628) chr2 224126030 224126030 A T het . 2 +intergenic KCNE4(dist=205683),SCG2(dist=335618) chr2 224126040 224126040 C A het . 1 +intergenic KCNE4(dist=276537),SCG2(dist=264764) chr2 224196894 224196894 T C het . 1 +intergenic KCNE4(dist=484717),SCG2(dist=56584) chr2 224405074 224405074 G A het . 2 +intergenic KCNE4(dist=487687),SCG2(dist=53614) chr2 224408044 224408044 G A het . 2 +intergenic KCNE4(dist=510418),SCG2(dist=30883) chr2 224430775 224430775 C T het . 3 +intergenic SCG2(dist=37311),AP1S3(dist=115519) chr2 224504528 224504528 A - het . 3 +intergenic SCG2(dist=127027),AP1S3(dist=25803) chr2 224594244 224594244 A C het . 3 +intergenic SCG2(dist=127031),AP1S3(dist=25799) chr2 224594248 224594248 T A het . 3 +intergenic SCG2(dist=131107),AP1S3(dist=21723) chr2 224598324 224598324 A - het . 5 +intergenic SCG2(dist=150283),AP1S3(dist=2545) chr2 224617500 224617502 TTC - het . 8 +intronic AP1S3 chr2 224640803 224640803 - AA het . 50 +intronic WDFY1 chr2 224770389 224770389 G A het . 1 +intergenic WDFY1(dist=8837),MRPL44(dist=3180) chr2 224818941 224818941 T C het . 1 +UTR3 MRPL44(NM_022915:c.*160T>C) chr2 224831911 224831911 T C het . 3 +intronic SERPINE2 chr2 224866695 224866695 T - het . 11 +intergenic SERPINE2(dist=213552),FAM124B(dist=125827) chr2 225117588 225117588 C T het . 2 +intergenic SERPINE2(dist=237271),FAM124B(dist=102108) chr2 225141307 225141307 C T het . 3 +intergenic SERPINE2(dist=257282),FAM124B(dist=82097) chr2 225161318 225161318 - A het . 2 +intergenic SERPINE2(dist=277481),FAM124B(dist=61898) chr2 225181517 225181517 C T het . 1 +exonic CUL3 chr2 225378339 225378339 C A het . 36 +intronic CUL3 chr2 225422240 225422240 T - het . 3 +intronic CUL3 chr2 225427302 225427302 G C het . 2 +intronic DOCK10 chr2 225654502 225654503 TT - het . 2 +intronic DOCK10 chr2 225695335 225695335 G - het . 23 +exonic DOCK10 chr2 225706553 225706553 A G het . 42 +exonic DOCK10 chr2 225710033 225710033 C A het . 20 +intronic DOCK10 chr2 225781669 225781670 GT AC het . 4 +intronic DOCK10 chr2 225807707 225807707 T G het . 1 +intergenic DOCK10(dist=259721),NYAP2(dist=98551) chr2 226167051 226167051 G A het . 2 +intergenic DOCK10(dist=304808),NYAP2(dist=53464) chr2 226212138 226212138 G A het . 3 +intergenic DOCK10(dist=355333),NYAP2(dist=2939) chr2 226262663 226262663 A G het . 3 +intronic NYAP2 chr2 226512699 226512699 - GTATAT het . 5 +intergenic NYAP2(dist=325509),LOC646736(dist=163267) chr2 226844243 226844243 A T het . 2 +intergenic NYAP2(dist=369026),LOC646736(dist=119750) chr2 226887760 226887760 - A het . 2 +ncRNA_intronic LOC646736 chr2 227013796 227013801 AACAAC - het . 3 +intergenic LOC646736(dist=235329),MIR5702(dist=243319) chr2 227280107 227280107 G A het . 2 +intronic RHBDD1 chr2 227771670 227771670 C A het . 17 +intronic RHBDD1 chr2 227773354 227773354 - AC het . 7 +intronic COL4A4 chr2 227890579 227890579 G A het . 18 +exonic COL4A4 chr2 227892619 227892619 C T het . 29 +intronic COL4A4 chr2 227914561 227914561 C T het . 3 +intronic COL4A4 chr2 227914625 227914625 T C het . 9 +intronic COL4A4 chr2 227914655 227914655 C G het . 11 +intronic COL4A4 chr2 227916908 227916908 A - het . 15 +intronic COL4A4 chr2 227942951 227942951 T C het . 3 +exonic COL4A4 chr2 227953482 227953482 G T het . 26 +intronic COL4A4 chr2 227966298 227966298 - A het . 25 +intronic COL4A3 chr2 228074630 228074630 A G het . 2 +ncRNA_intronic LOC654841 chr2 228105607 228105607 C T het . 2 +ncRNA_intronic LOC654841 chr2 228109626 228109626 - G het . 50 +ncRNA_intronic LOC654841 chr2 228111651 228111651 A G het . 4 +ncRNA_intronic LOC654841 chr2 228113280 228113281 CT - het . 18 +ncRNA_intronic LOC654841 chr2 228146992 228146995 ATAT - het . 3 +ncRNA_intronic LOC654841 chr2 228159661 228159661 T - het . 25 +ncRNA_intronic LOC654841 chr2 228159666 228159666 T G het . 28 +ncRNA_intronic LOC654841 chr2 228168476 228168476 A C het . 14 +ncRNA_intronic LOC654841 chr2 228183415 228183415 G A het . 3 +intronic MFF chr2 228193052 228193052 T C het . 1 +intronic MFF chr2 228204982 228204982 C T het . 13 +intergenic SLC19A3(dist=20715),CCL20(dist=75098) chr2 228603460 228603460 T C het . 2 +intergenic SLC19A3(dist=35507),CCL20(dist=60306) chr2 228618252 228618252 T C het . 2 +intergenic SLC19A3(dist=72448),CCL20(dist=23364) chr2 228655193 228655194 TT - het . 2 +intergenic CCL20(dist=52750),DAW1(dist=1062) chr2 228735030 228735030 G C het . 18 +intergenic CCL20(dist=52754),DAW1(dist=1057) chr2 228735034 228735035 AC GT het . 19 +intronic DAW1 chr2 228736527 228736527 A G het . 5 +intergenic DAW1(dist=14671),SPHKAP(dist=40940) chr2 228803730 228803730 C T het . 2 +exonic SPHKAP chr2 228883447 228883447 C A het . 22 +exonic SPHKAP chr2 228884238 228884238 C A het . 35 +intronic SPHKAP chr2 228906393 228906393 A G het . 2 +intronic SPHKAP chr2 228926928 228926928 A C het . 2 +intergenic SPHKAP(dist=12835),LINC01807(dist=288783) chr2 229059196 229059196 C T het . 1 +intergenic SPHKAP(dist=32899),LINC01807(dist=268719) chr2 229079260 229079260 G A het . 3 +intergenic LINC01807(dist=248530),PID1(dist=164048) chr2 229724641 229724641 A G het . 2 +intergenic LINC01807(dist=283217),PID1(dist=129361) chr2 229759328 229759328 C T het . 2 +intronic PID1 chr2 230093003 230093003 G A het . 3 +intergenic PID1(dist=13213),DNER(dist=73075) chr2 230149270 230149270 A G het . 2 +intronic DNER chr2 230347793 230347793 G A het . 1 +intronic DNER chr2 230442159 230442159 G A het . 1 +intronic DNER chr2 230453214 230453214 - A het . 7 +exonic DNER chr2 230456533 230456535 GCT - het . 9 +intronic DNER chr2 230456828 230456828 T C het . 1 +intronic TRIP12 chr2 230655614 230655614 T - het . 2 +intronic FBXO36 chr2 230840186 230840188 TTT - het . 2 +intronic SLC16A14 chr2 230931354 230931354 - T het . 5 +intergenic SLC16A14(dist=15581),SP110(dist=84349) chr2 230949296 230949296 G A het . 2 +intergenic SLC16A14(dist=15594),SP110(dist=84336) chr2 230949309 230949309 G T het . 2 +intergenic SLC16A14(dist=15616),SP110(dist=84314) chr2 230949331 230949331 G T het . 1 +intergenic SLC16A14(dist=63174),SP110(dist=36756) chr2 230996889 230996889 T C het . 2 +intergenic SLC16A14(dist=63184),SP110(dist=36746) chr2 230996899 230996899 G T het . 1 +intronic SP110 chr2 231042588 231042588 T G het . 4 +UTR5 SP140(NM_001278451:c.-86G>A,NM_001278452:c.-86G>A,NM_001278453:c.-86G>A,NM_007237:c.-86G>A,NM_001005176:c.-86G>A) chr2 231090474 231090474 G A het . 13 +intronic SP140 chr2 231110737 231110737 C T het . 21 +intronic SP140 chr2 231113499 231113499 G A het . 9 +intronic SP140 chr2 231120256 231120256 G - het . 3 +intronic SP140 chr2 231150567 231150567 C T het . 16 +intronic SP140 chr2 231177201 231177202 TT - het . 14 +intronic SP140L chr2 231253183 231253183 A G het . 3 +intronic SP140L chr2 231253216 231253216 A G het . 6 +intronic SP140L chr2 231258675 231258675 T G het . 2 +intronic SP100 chr2 231327430 231327430 G A het . 4 +intronic SP100 chr2 231334505 231334508 AAAG - het . 15 +intronic SP100 chr2 231338211 231338211 T G het . 5 +intronic SP100 chr2 231358382 231358382 T C het . 1 +UTR3 SP100(NM_001080391:c.*202_*203insA) chr2 231407863 231407863 - A het . 2 +intergenic SP100(dist=25017),LINC01907(dist=120302) chr2 231435334 231435334 A C het . 2 +intergenic CAB39(dist=35804),ITM2C(dist=7719) chr2 231721594 231721594 A G het . 1 +intergenic GPR55(dist=43363),SPATA3-AS1(dist=15779) chr2 231833304 231833304 T C het . 1 +ncRNA_exonic SPATA3-AS1 chr2 231851895 231851895 T G het . 2 +exonic ARMC9 chr2 232087474 232087475 AT GA het . 23 +intergenic B3GNT7(dist=32937),NCL(dist=20647) chr2 232298812 232298812 C T het . 17 +intergenic B3GNT7(dist=32941),NCL(dist=20643) chr2 232298816 232298816 G A het . 16 +ncRNA_exonic SNORA75 chr2 232320581 232320581 T G het . 19 +intronic NCL chr2 232321956 232321956 C T het . 11 +intronic NCL chr2 232323103 232323103 A G het . 15 +exonic NCL chr2 232325274 232325274 C A het . 27 +intergenic NCL(dist=25603),LINC00471(dist=18328) chr2 232354808 232354809 CC - het . 3 +intergenic NCL(dist=25627),LINC00471(dist=18305) chr2 232354832 232354832 G T het . 6 +intergenic NMUR1(dist=21386),TEX44(dist=41007) chr2 232416568 232416568 A - het . 3 +intergenic NMUR1(dist=29474),TEX44(dist=32919) chr2 232424656 232424656 T G het . 10 +exonic TEX44 chr2 232458139 232458139 C A het . 21 +intergenic TEX44(dist=24634),PTMA(dist=89598) chr2 232483628 232483637 AAAAGAAAAG - het . 1 +intergenic TEX44(dist=24665),PTMA(dist=89576) chr2 232483659 232483659 G A het . 1 +intergenic TEX44(dist=104376),PTMA(dist=9865) chr2 232563370 232563370 A C het . 3 +UTR5 PTMA(NM_002823:c.-125T>C,NM_001099285:c.-125T>C) chr2 232573292 232573292 T C het . 8 +UTR5 PTMA(NM_002823:c.-116C>T,NM_001099285:c.-116C>T) chr2 232573301 232573301 C T het . 8 +intergenic COPS7B(dist=48916),MIR1471(dist=34073) chr2 232722879 232722879 - T het . 3 +intergenic NPPC(dist=30832),DIS3L2(dist=4348) chr2 232821945 232821945 G A het . 1 +intronic DIS3L2 chr2 232835535 232835535 - ATA het . 4 +intronic DIS3L2 chr2 233182202 233182202 A G het . 2 +downstream ECEL1P2(dist=584) chr2 233249876 233249876 G A het . 2 +intergenic ALPG(dist=31412),ALPI(dist=13986) chr2 233306836 233306836 A G het . 11 +intronic ECEL1 chr2 233345204 233345204 T G het . 9 +intronic EIF4E2 chr2 233421285 233421285 T - het . 18 +intronic EFHD1 chr2 233532235 233532235 - TTAA het . 2 +intronic EFHD1 chr2 233536926 233536926 T C het . 11 +intronic EFHD1 chr2 233539899 233539899 G A het . 1 +intronic GIGYF2 chr2 233620908 233620908 T - het . 8 +intronic GIGYF2 chr2 233690382 233690382 G T het . 3 +exonic GIGYF2 chr2 233697764 233697766 GCA - het . 30 +exonic GIGYF2 chr2 233712227 233712229 ACA - het . 25 +UTR3 GIGYF2(NM_015575:c.*1792C>A,NM_001103148:c.*1792C>A,NM_001103147:c.*1792C>A,NM_001103146:c.*1792C>A) chr2 233723362 233723362 C A het . 11 +intronic NGEF chr2 233750118 233750118 G A het . 9 +intronic NGEF chr2 233755949 233755949 A G het . 2 +intronic NGEF chr2 233850459 233850459 C T het . 2 +intronic INPP5D chr2 233929906 233929906 G C het . 2 +intronic INPP5D chr2 234062803 234062803 - T het . 2 +intronic INPP5D chr2 234063780 234063780 A G het . 1 +intronic INPP5D chr2 234079536 234079536 A G het . 5 +intronic INPP5D chr2 234104154 234104154 T G het . 11 +intronic INPP5D chr2 234104159 234104159 T G het . 10 +intronic SAG chr2 234217742 234217742 C A het . 5 +intronic SAG chr2 234230596 234230596 T C het . 2 +intronic SAG chr2 234252190 234252190 C A het . 14 +intronic USP40 chr2 234438354 234438354 C T het . 2 +intronic USP40 chr2 234442438 234442438 A - het . 5 +exonic UGT1A10 chr2 234545859 234545859 G A het . 30 +exonic UGT1A7 chr2 234590970 234590970 T G het . 16 +exonic UGT1A7 chr2 234590974 234590975 CG AA het . 15 +intronic UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 chr2 234604069 234604071 CTT - het . 4 +intronic UGT1A10,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 chr2 234627248 234627248 C T het . 2 +exonic DNAJB3 chr2 234652331 234652331 T C het . 22 +intronic MROH2A chr2 234704495 234704495 T G het . 5 +intronic MROH2A chr2 234707341 234707341 T C het . 8 +intronic MROH2A chr2 234709000 234709000 C T het . 3 +intronic MROH2A chr2 234740797 234740797 - AAAA het . 15 +intronic MROH2A chr2 234740798 234740798 T A het . 15 +intronic HJURP chr2 234753008 234753008 G A het . 4 +intronic HJURP chr2 234761355 234761355 G A het . 10 +ncRNA_intronic MSL3P1 chr2 234776751 234776751 G A het . 6 +intronic TRPM8 chr2 234923362 234923362 G A het . 5 +intronic TRPM8 chr2 234923428 234923428 - AA het . 2 +intergenic SPP2(dist=106872),LINC01891(dist=260586) chr2 235092648 235092648 G A het . 2 +intergenic LINC01173(dist=161331),SH3BP4(dist=72889) chr2 235787739 235787739 G A het . 2 +intergenic SH3BP4(dist=45810),AGAP1(dist=392565) chr2 236010168 236010168 A G het . 2 +intergenic SH3BP4(dist=67456),AGAP1(dist=370919) chr2 236031814 236031814 T C het . 2 +intergenic SH3BP4(dist=226280),AGAP1(dist=212095) chr2 236190638 236190638 C T het . 2 +intergenic SH3BP4(dist=235698),AGAP1(dist=202677) chr2 236200056 236200056 T G het . 1 +intronic AGAP1 chr2 236722603 236722603 C T het . 2 +intronic AGAP1 chr2 236728540 236728540 C T het . 2 +intronic AGAP1 chr2 236817629 236817629 C T het . 5 +intronic AGAP1 chr2 236823985 236823985 C T het . 2 +intronic AGAP1 chr2 236839616 236839616 C T het . 3 +intergenic ASB18(dist=13337),IQCA1(dist=46465) chr2 237186325 237186325 G A het . 3 +intergenic ACKR3(dist=21640),LOC93463(dist=444608) chr2 237512634 237512634 - C het . 2 +intergenic COPS8(dist=139043),COL6A3(dist=86123) chr2 238146532 238146532 A C het . 2 +intronic COL6A3 chr2 238233483 238233483 G A het . 14 +intronic COL6A3 chr2 238261112 238261113 GC AA het . 9 +exonic COL6A3 chr2 238277778 238277778 C A het . 21 +exonic MLPH chr2 238419315 238419315 C A het . 44 +exonic MLPH chr2 238427215 238427215 G A het . 30 +intronic LRRFIP1 chr2 238575383 238575383 - TTCTTTCA het . 3 +exonic LRRFIP1 chr2 238642460 238642460 G T het . 9 +intronic LRRFIP1 chr2 238683166 238683166 G A het . 13 +intronic RAMP1 chr2 238816330 238816330 C A het . 4 +intronic RAMP1 chr2 238816356 238816356 A T het . 2 +ncRNA_intronic UBE2F-SCLY chr2 238894785 238894788 TTTT - het . 12 +ncRNA_intronic UBE2F-SCLY chr2 238899046 238899046 T - het . 8 +ncRNA_intronic UBE2F-SCLY chr2 238912120 238912120 A C het . 2 +ncRNA_intronic UBE2F-SCLY chr2 238943069 238943069 - A het . 2 +ncRNA_intronic UBE2F-SCLY chr2 238944442 238944443 CT - het . 20 +ncRNA_intronic UBE2F-SCLY chr2 238970159 238970168 GCCTTATGGG - het . 3 +ncRNA_intronic UBE2F-SCLY chr2 238996343 238996343 A - het . 2 +ncRNA_intronic UBE2F-SCLY chr2 239002481 239002483 TTG - het . 12 +intronic KLHL30 chr2 239055073 239055073 G A het . 2 +intronic ERFE chr2 239072674 239072674 C T het . 3 +intronic ASB1 chr2 239339712 239339712 C A het . 2 +intergenic LINC01107(dist=273264),TWIST2(dist=19269) chr2 239737404 239737404 C A het . 2 +intergenic LINC01940(dist=42731),HDAC4(dist=79168) chr2 239890696 239890696 G A het . 1 +intergenic LINC01940(dist=95994),HDAC4(dist=25905) chr2 239943959 239943959 C T het . 2 +intronic HDAC4 chr2 239988558 239988558 C A het . 12 +intronic HDAC4 chr2 240016606 240016606 C A het . 16 +intronic HDAC4 chr2 240111477 240111477 A T het . 5 +intronic HDAC4 chr2 240219793 240219793 C A het . 20 +intronic HDAC4 chr2 240274625 240274625 G A het . 3 +intergenic LOC101928111(dist=180753),LOC150935(dist=179743) chr2 240504811 240504811 C A het . 20 +intergenic LOC101928111(dist=228506),LOC150935(dist=131990) chr2 240552564 240552564 G T het . 1 +exonic NDUFA10 chr2 240951071 240951071 C T het . 33 +intronic NDUFA10 chr2 240954091 240954091 G - het . 23 +intronic NDUFA10 chr2 240960542 240960542 C A het . 6 +intergenic OR6B2(dist=11529),OR6B3(dist=3119) chr2 240981375 240981375 T A het . 22 +intergenic OTOS(dist=45014),GPC1(dist=250028) chr2 241125087 241125087 G A het . 2 +intergenic OTOS(dist=45032),GPC1(dist=250010) chr2 241125105 241125105 C T het . 2 +intergenic OTOS(dist=128165),GPC1(dist=166877) chr2 241208238 241208238 T A het . 3 +exonic GPC1 chr2 241401741 241401741 C T het . 9 +intronic GPC1 chr2 241405454 241405454 G A het . 4 +intronic ANKMY1 chr2 241442591 241442591 G A het . 2 +intronic ANKMY1 chr2 241452198 241452198 T C het . 7 +intronic ANKMY1 chr2 241470058 241470058 G A het . 1 +UTR5 ANKMY1(NM_001354025:c.-35332A>G,NM_001354024:c.-6157A>G,NM_001308375:c.-141A>G,NM_001354023:c.-3756A>G,NM_001354026:c.-6157A>G) chr2 241500508 241500508 T C het . 3 +exonic GPR35 chr2 241570249 241570249 A C het . 7 +exonic GPR35 chr2 241570284 241570284 C T het . 8 +exonic KIF1A chr2 241696841 241696843 TCC - het . 5 +intronic AGXT chr2 241815308 241815308 A G het . 2 +intronic CROCC2 chr2 241889171 241889171 G A het . 3 +exonic SNED1 chr2 242011060 242011060 C T het . 20 +intronic SNED1 chr2 242011151 242011151 A G het . 5 +UTR3 SNED1(NM_001080437:c.*2859C>A) chr2 242033910 242033910 C A het . 9 +intronic PASK chr2 242067116 242067116 A C het . 3 +UTR3 PPP1R7(NM_001282413:c.*153T>C,NM_001282412:c.*153T>C,NM_002712:c.*153T>C,NM_001282409:c.*153T>C) chr2 242122391 242122391 T C het . 2 +UTR3 PPP1R7(NM_001282413:c.*157A>C,NM_001282412:c.*157A>C,NM_002712:c.*157A>C,NM_001282409:c.*157A>C) chr2 242122395 242122395 A C het . 1 +intronic SEPT2 chr2 242259614 242259614 G A het . 18 +intronic SEPT2 chr2 242274489 242274489 G C het . 11 +intronic SEPT2 chr2 242274512 242274512 C A het . 16 +intronic FARP2 chr2 242371245 242371245 A T het . 20 +intronic FARP2 chr2 242433013 242433013 T - het . 5 +exonic THAP4 chr2 242573338 242573338 G A het . 11 +UTR3 ATG4B(NM_013325:c.*1410A>G,NM_178326:c.*1469A>G) chr2 242613089 242613089 A G het . 31 +intronic DTYMK chr2 242617792 242617792 A G het . 3 +exonic ING5 chr2 242648743 242648743 G A het . 5 +intronic D2HGDH chr2 242674959 242674959 T G het . 10 +intronic D2HGDH chr2 242699290 242699290 C T het . 1 +UTR5 NEU4(NM_001167601:c.-5451T>G,NM_001167600:c.-5451T>G) chr2 242750231 242750231 T G het . 6 +exonic RTP5 chr2 242814283 242814283 C T het . 8 +intronic CHL1 chr3 239347 239347 - G het . 3 +intronic CHL1 chr3 239556 239557 TT - het . 5 +intronic CHL1 chr3 273987 273987 A G het . 2 +intronic CHL1 chr3 329644 329644 T G het . 5 +intronic CHL1 chr3 375631 375631 G T het . 2 +intronic CHL1 chr3 386150 386153 ACAC - het . 6 +ncRNA_intronic CHL1-AS1 chr3 417994 417994 A G het . 3 +intronic CHL1 chr3 440946 440946 G A het . 6 +intronic CHL1 chr3 440977 440977 G A het . 3 +intronic CHL1 chr3 445235 445235 C A het . 2 +intronic CHL1 chr3 447069 447069 C T het . 5 +intergenic CHL1(dist=157308),LINC01266(dist=25383) chr3 608405 608405 T C het . 2 +intergenic CHL1(dist=180057),LINC01266(dist=2634) chr3 631154 631154 C T het . 2 +ncRNA_intronic LINC01266 chr3 702087 702087 C T het . 3 +ncRNA_intronic LINC01266 chr3 731258 731258 C T het . 2 +intergenic LINC01266(dist=41154),CNTN6(dist=205490) chr3 928852 928852 - TTCC het . 1 +intergenic LINC01266(dist=171319),CNTN6(dist=75325) chr3 1059017 1059017 A G het . 2 +intronic CNTN6 chr3 1334893 1334893 T C het . 3 +intronic CNTN6 chr3 1339681 1339686 GTTTTT - het . 13 +intronic CNTN6 chr3 1363309 1363309 A C het . 8 +intronic CNTN6 chr3 1371421 1371421 C G het . 12 +intronic CNTN6 chr3 1371634 1371634 A G het . 5 +intronic CNTN6 chr3 1394159 1394159 C A het . 8 +intergenic CNTN6(dist=28935),CNTN4(dist=666260) chr3 1474227 1474227 - TTTT het . 2 +intergenic CNTN6(dist=28963),CNTN4(dist=666232) chr3 1474255 1474255 T A het . 2 +intergenic CNTN6(dist=37505),CNTN4(dist=657690) chr3 1482797 1482797 G A het . 3 +intergenic CNTN6(dist=50444),CNTN4(dist=644751) chr3 1495736 1495736 T C het . 2 +intergenic CNTN6(dist=50466),CNTN4(dist=644729) chr3 1495758 1495758 A T het . 2 +intergenic CNTN6(dist=220774),CNTN4(dist=474421) chr3 1666066 1666066 T C het . 2 +intergenic CNTN6(dist=378618),CNTN4(dist=316577) chr3 1823910 1823910 C T het . 1 +intergenic CNTN6(dist=487172),CNTN4(dist=208023) chr3 1932464 1932464 T C het . 2 +intronic CNTN4 chr3 2196935 2196935 G T het . 2 +intronic CNTN4 chr3 2365247 2365247 T C het . 2 +intronic CNTN4 chr3 2569093 2569093 - TGCTGCTGCTGC het . 12 +intronic CNTN4 chr3 2569119 2569119 - C het . 13 +intronic CNTN4 chr3 2569120 2569120 - GCTGC het . 13 +intronic CNTN4 chr3 2576692 2576692 C G het . 5 +intronic CNTN4 chr3 2652997 2652997 G A het . 2 +intronic CNTN4 chr3 2653009 2653009 G C het . 2 +intronic TRNT1 chr3 3178322 3178322 G A het . 16 +intronic TRNT1 chr3 3178343 3178344 TT - het . 14 +intronic TRNT1 chr3 3179262 3179262 A T het . 1 +intronic TRNT1 chr3 3182485 3182485 A G het . 7 +intronic TRNT1 chr3 3182500 3182500 G C het . 4 +UTR3 TRNT1(NM_001302946:c.*27A>G,NM_182916:c.*27A>G) chr3 3189865 3189865 A G het . 16 +UTR3 CRBN(NM_001173482:c.*24_*25insGTTA,NM_016302:c.*24_*25insGTTA) chr3 3192524 3192524 - TAAC het . 18 +intronic CRBN chr3 3196274 3196274 T - het . 10 +intronic CRBN chr3 3197871 3197871 T C het . 26 +exonic CRBN chr3 3197904 3197904 G T het . 35 +intronic CRBN chr3 3214379 3214379 C A het . 17 +intergenic CRBN(dist=83887),LOC100130207(dist=437210) chr3 3305288 3305288 T G het . 2 +intergenic CRBN(dist=164515),LOC100130207(dist=356582) chr3 3385916 3385916 C T het . 2 +intergenic CRBN(dist=210863),LOC100130207(dist=310234) chr3 3432264 3432264 C A het . 3 +intergenic CRBN(dist=269263),LOC100130207(dist=251834) chr3 3490664 3490664 - T het . 3 +intergenic CRBN(dist=417729),LOC100130207(dist=103368) chr3 3639130 3639130 T C het . 1 +intergenic LRRN1(dist=132157),SETMAR(dist=321313) chr3 4023675 4023675 G A het . 5 +intergenic LRRN1(dist=132188),SETMAR(dist=321282) chr3 4023706 4023706 T C het . 11 +intergenic LRRN1(dist=155173),SETMAR(dist=298297) chr3 4046691 4046691 G A het . 3 +intergenic LRRN1(dist=184418),SETMAR(dist=269052) chr3 4075936 4075936 G A het . 1 +intronic SUMF1 chr3 4410619 4410619 G C het . 2 +intronic SUMF1 chr3 4459972 4459972 A G het . 3 +intronic SUMF1 chr3 4478549 4478549 T A het . 1 +intergenic SUMF1(dist=4577),ITPR1-DT(dist=18458) chr3 4513543 4513543 A G het . 1 +intergenic SUMF1(dist=4583),ITPR1-DT(dist=18452) chr3 4513549 4513549 G C het . 1 +intronic ITPR1 chr3 4609296 4609296 G T het . 2 +intronic ITPR1 chr3 4609300 4609300 - G het . 2 +intronic ITPR1 chr3 4609301 4609301 C T het . 2 +exonic ITPR1 chr3 4681152 4681152 C T het . 9 +intronic ITPR1 chr3 4722956 4722956 A G het . 9 +intronic ITPR1 chr3 4843485 4843485 A T het . 2 +intronic ITPR1 chr3 4872603 4872603 C A het . 25 +intronic ITPR1 chr3 4872791 4872796 TCTCTC - het . 8 +ncRNA_intronic BHLHE40-AS1 chr3 4996698 4996698 A T het . 2 +intronic BHLHE40 chr3 5024415 5024415 - T het . 7 +intronic ARL8B chr3 5213750 5213750 C A het . 22 +intronic EDEM1 chr3 5236826 5236826 G A het . 10 +intergenic MIR4790(dist=153260),GRM7-AS3(dist=1228845) chr3 5445200 5445200 - AAAC het . 3 +intergenic MIR4790(dist=185444),GRM7-AS3(dist=1196660) chr3 5477384 5477385 TG GT het . 2 +intergenic MIR4790(dist=409980),GRM7-AS3(dist=972125) chr3 5701920 5701920 G A het . 2 +intergenic MIR4790(dist=1104201),GRM7-AS3(dist=277904) chr3 6396141 6396141 - TATAT het . 2 +intergenic MIR4790(dist=1104702),GRM7-AS3(dist=277403) chr3 6396642 6396642 C G het . 3 +intergenic MIR4790(dist=1368569),GRM7-AS3(dist=13536) chr3 6660509 6660509 T C het . 4 +intergenic MIR4790(dist=1368574),GRM7-AS3(dist=13531) chr3 6660514 6660514 - G het . 5 +intergenic MIR4790(dist=1368575),GRM7-AS3(dist=13530) chr3 6660515 6660515 C G het . 5 +ncRNA_intronic GRM7-AS3 chr3 6734797 6734797 T C het . 2 +ncRNA_intronic GRM7-AS3 chr3 6745703 6745703 G A het . 1 +ncRNA_intronic GRM7-AS3 chr3 6794705 6794705 G A het . 2 +intronic GRM7 chr3 6903601 6903601 A G het . 4 +intronic GRM7 chr3 7294371 7294371 - TTTTC het . 1 +intronic GRM7 chr3 7294407 7294407 T C het . 1 +intronic GRM7 chr3 7309584 7309584 G T het . 2 +intronic GRM7 chr3 7444483 7444483 G A het . 1 +intronic GRM7 chr3 7451262 7451271 TTTGTTTTGT - het . 2 +intronic GRM7 chr3 7470855 7470855 C T het . 2 +intronic GRM7 chr3 7517972 7517972 C T het . 2 +intronic GRM7 chr3 7517981 7517981 T C het . 2 +intronic GRM7 chr3 7592083 7592083 T G het . 2 +intronic GRM7 chr3 7619517 7619517 G A het . 2 +intronic GRM7 chr3 7678090 7678090 G A het . 4 +intronic GRM7 chr3 7678134 7678134 C T het . 3 +intronic GRM7 chr3 7682704 7682704 T C het . 1 +intergenic GRM7(dist=145487),LOC101927394(dist=65787) chr3 7928705 7928705 A C het . 2 +intergenic LOC101927394(dist=15580),LMCD1-AS1(dist=189260) chr3 8073574 8073574 C T het . 2 +intergenic LOC101927394(dist=120298),LMCD1-AS1(dist=84542) chr3 8178292 8178292 A T het . 1 +intergenic LOC101927394(dist=134449),LMCD1-AS1(dist=70391) chr3 8192443 8192443 T C het . 1 +intergenic LOC101927394(dist=175516),LMCD1-AS1(dist=29324) chr3 8233510 8233510 C T het . 2 +intronic LMCD1 chr3 8543713 8543713 - T het . 9 +intronic LMCD1 chr3 8578859 8578859 A C het . 9 +intronic SSUH2 chr3 8669361 8669361 C A het . 4 +intronic SSUH2 chr3 8669368 8669368 G - het . 4 +intergenic SSUH2(dist=29497),CAV3(dist=52225) chr3 8723261 8723261 A G het . 2 +intergenic SSUH2(dist=36496),CAV3(dist=45226) chr3 8730260 8730260 G A het . 4 +intergenic SSUH2(dist=36525),CAV3(dist=45197) chr3 8730289 8730289 C G het . 8 +intronic SRGAP3 chr3 9036335 9036335 C T het . 6 +intronic SRGAP3 chr3 9066587 9066587 C G het . 3 +intronic SRGAP3 chr3 9102112 9102112 - TT het . 3 +intronic SRGAP3 chr3 9102137 9102137 G C het . 5 +ncRNA_intronic SRGAP3-AS4 chr3 9296779 9296779 G A het . 3 +intronic THUMPD3 chr3 9406661 9406661 G A het . 3 +UTR5 THUMPD3(NM_001114092:c.-49G>A,NM_015453:c.-49G>A) chr3 9406704 9406704 G A het . 8 +intronic THUMPD3 chr3 9425743 9425743 A G het . 2 +exonic SETD5 chr3 9517294 9517294 A C het . 27 +intergenic LHFPL4(dist=85369),MTMR14(dist=10262) chr3 9680855 9680855 - TCTT het . 3 +intergenic RPUSD3(dist=16840),CIDEC(dist=5811) chr3 9902583 9902583 T C het . 2 +exonic CIDEC chr3 9918834 9918834 C A het . 22 +intronic IL17RE chr3 9953470 9953470 T C het . 2 +UTR5 IL17RC(NM_001203265:c.-53_-52insG,NM_001203264:c.-53_-52insG,NM_001203263:c.-53_-52insG,NM_032732:c.-53_-52insG,NM_153460:c.-53_-52insG,NM_153461:c.-53_-52insG) chr3 9958947 9958947 - G het . 2 +exonic IL17RC chr3 9970031 9970031 A G het . 2 +exonic IL17RC chr3 9970063 9970063 G A het . 3 +exonic IL17RC chr3 9975247 9975247 C G het . 4 +upstream;downstream CRELD1(dist=171);IL17RC(dist=48) chr3 9975353 9975353 A G het . 2 +intronic EMC3 chr3 10019293 10019293 C A het . 5 +intronic FANCD2 chr3 10101867 10101867 C A het . 4 +intronic FANCD2 chr3 10103932 10103933 TT - het . 22 +intronic FANCD2 chr3 10119557 10119557 A - het . 2 +intronic FANCD2,FANCD2OS chr3 10142750 10142750 A - het . 5 +intronic BRK1 chr3 10165212 10165212 C T het . 2 +intronic IRAK2 chr3 10272181 10272181 T G het . 2 +intronic IRAK2 chr3 10283671 10283671 A - het . 3 +intronic TATDN2 chr3 10306368 10306368 T - het . 6 +intronic TATDN2 chr3 10318230 10318230 - T het . 8 +exonic SEC13 chr3 10353626 10353626 C T het . 7 +intronic ATP2B2 chr3 10380209 10380209 T C het . 2 +intronic ATP2B2 chr3 10427190 10427190 C T het . 3 +intronic ATP2B2 chr3 10637339 10637339 G - het . 2 +intergenic SLC6A1(dist=95932),HRH1(dist=1912) chr3 11176867 11176867 G A het . 1 +intronic HRH1 chr3 11244121 11244124 TAAT - het . 1 +intronic HRH1 chr3 11249228 11249228 C G het . 2 +intronic ATG7 chr3 11360855 11360855 C - het . 3 +intronic ATG7 chr3 11488632 11488632 T C het . 1 +intronic ATG7 chr3 11488640 11488640 A G het . 2 +intronic ATG7 chr3 11504498 11504498 G T het . 1 +intronic ATG7 chr3 11540732 11540736 CTATC - het . 2 +intronic ATG7 chr3 11542137 11542137 C T het . 2 +intronic VGLL4 chr3 11659592 11659592 C T het . 1 +intronic VGLL4 chr3 11748949 11748949 C A het . 1 +intergenic VGLL4(dist=33768),TAMM41(dist=35906) chr3 11796010 11796010 - A het . 2 +intergenic VGLL4(dist=33776),TAMM41(dist=35898) chr3 11796018 11796018 T A het . 2 +intergenic VGLL4(dist=33782),TAMM41(dist=35892) chr3 11796024 11796024 A G het . 2 +intergenic TAMM41(dist=24242),SYN2(dist=133199) chr3 11912635 11912635 C T het . 2 +intergenic TAMM41(dist=53857),SYN2(dist=103584) chr3 11942250 11942250 C T het . 1 +intergenic TAMM41(dist=59099),SYN2(dist=98342) chr3 11947492 11947492 T C het . 5 +UTR5 SYN2(NM_133625:c.-135T>C,NM_003178:c.-135T>C) chr3 12045891 12045891 T C het . 3 +UTR5 SYN2(NM_133625:c.-127C>T,NM_003178:c.-127C>T) chr3 12045899 12045899 C T het . 3 +UTR5 SYN2(NM_133625:c.-103A>C,NM_003178:c.-103A>C) chr3 12045923 12045923 A C het . 3 +exonic SYN2 chr3 12046076 12046076 T C het . 3 +intronic SYN2 chr3 12047275 12047275 A G het . 1 +intronic SYN2 chr3 12047280 12047280 G A het . 1 +intronic SYN2 chr3 12120453 12120453 A G het . 2 +intergenic SYN2(dist=48772),PPARG(dist=46680) chr3 12282304 12282304 G C het . 3 +intronic TSEN2 chr3 12533840 12533840 C A het . 18 +exonic MKRN2OS chr3 12581771 12581771 G T het . 30 +exonic MKRN2 chr3 12610396 12610396 C A het . 19 +intronic RAF1 chr3 12660291 12660291 C T het . 17 +intronic TMEM40 chr3 12791255 12791255 G A het . 17 +exonic TMEM40 chr3 12810783 12810783 C T het . 11 +intronic IQSEC1 chr3 12954868 12954868 A G het . 6 +intronic IQSEC1 chr3 13013514 13013514 - AAAC het . 2 +intronic IQSEC1 chr3 13099190 13099190 A G het . 2 +intergenic IQSEC1(dist=84570),NUP210(dist=158543) chr3 13199187 13199187 A C het . 2 +intergenic IQSEC1(dist=84579),NUP210(dist=158534) chr3 13199196 13199196 T G het . 2 +intronic NUP210 chr3 13415146 13415146 G T het . 3 +intronic NUP210 chr3 13439005 13439005 A G het . 1 +intronic HDAC11 chr3 13527790 13527790 G A het . 2 +intergenic HDAC11(dist=39441),FBLN2(dist=3260) chr3 13587365 13587365 A C het . 1 +UTR3 FBLN2(NM_001998:c.*269T>A,NM_001004019:c.*269T>A,NM_001165035:c.*269T>A) chr3 13679688 13679688 T A het . 7 +UTR3 FBLN2(NM_001998:c.*276C>A,NM_001004019:c.*276C>A,NM_001165035:c.*276C>A) chr3 13679695 13679695 C A het . 8 +intronic WNT7A chr3 13910936 13910936 - AAAG het . 2 +intronic WNT7A chr3 13916794 13916794 G T het . 4 +intergenic WNT7A(dist=13716),FGD5P1(dist=39219) chr3 13935334 13935334 - G het . 2 +ncRNA_exonic FGD5P1 chr3 13977703 13977703 A C het . 1 +upstream;downstream TPRXL(dist=108);FGD5P1(dist=255) chr3 13978699 13978699 C A het . 4 +intergenic TPRXL(dist=15937),CHCHD4(dist=30159) chr3 14123418 14123418 C A het . 3 +intronic TMEM43 chr3 14179704 14179704 T C het . 2 +exonic XPC chr3 14187449 14187449 G T het . 8 +intronic XPC chr3 14187710 14187710 T C het . 5 +intergenic LSM3(dist=15615),LINC01267(dist=134467) chr3 14255484 14255484 A G het . 2 +intergenic LSM3(dist=18873),LINC01267(dist=131209) chr3 14258742 14258742 - CTTT het . 4 +upstream GRIP2(dist=29) chr3 14581879 14581879 T - het . 16 +upstream GRIP2(dist=35) chr3 14581885 14581885 C T het . 16 +intergenic GRIP2(dist=71214),CCDC174(dist=40189) chr3 14653064 14653064 C A het . 1 +intronic CCDC174 chr3 14696955 14696955 - T het . 10 +intronic FGD5 chr3 14935189 14935189 C T het . 2 +intronic FGD5 chr3 14960204 14960204 G T het . 6 +intronic RBSN chr3 15126102 15126102 C G het . 1 +intronic CAPN7 chr3 15269258 15269258 A - het . 9 +intronic CAPN7 chr3 15282164 15282164 A - het . 14 +intronic SH3BP5 chr3 15354907 15354907 G C het . 4 +intergenic SH3BP5(dist=29895),METTL6(dist=38471) chr3 15412796 15412796 G T het . 1 +intergenic SH3BP5(dist=44216),METTL6(dist=24150) chr3 15427117 15427117 G A het . 2 +intronic EAF1 chr3 15471529 15471529 T - het . 12 +intergenic BTD(dist=14141),ANKRD28(dist=5462) chr3 15703282 15703282 T G het . 2 +intronic ANKRD28 chr3 15807346 15807346 C A het . 3 +intronic ANKRD28 chr3 15807355 15807356 AA - het . 4 +intronic ANKRD28 chr3 15821995 15821995 T C het . 2 +intronic ANKRD28 chr3 15837784 15837784 C T het . 4 +intergenic MIR563(dist=4865),GALNT15(dist=295606) chr3 15920221 15920223 CTG - het . 2 +intergenic MIR563(dist=280933),GALNT15(dist=19540) chr3 16196289 16196289 G C het . 2 +intronic GALNT15 chr3 16268846 16268846 C A het . 6 +intronic DPH3 chr3 16303882 16303882 T C het . 1 +intronic OXNAD1 chr3 16312717 16312717 T - het . 2 +intronic OXNAD1 chr3 16344307 16344307 A C het . 7 +intronic OXNAD1 chr3 16349246 16349250 TTTTG - het . 3 +exonic RFTN1 chr3 16419309 16419309 C T het . 5 +intergenic RFTN1(dist=10337),LINC00690(dist=12266) chr3 16565559 16565559 C T het . 1 +intronic DAZL chr3 16633802 16633802 G A het . 16 +intronic DAZL chr3 16633947 16633947 T G het . 4 +intronic DAZL chr3 16639146 16639146 T C het . 11 +intergenic DAZL(dist=94217),PLCL2(dist=185229) chr3 16741223 16741223 - AT het . 3 +intergenic DAZL(dist=117083),PLCL2(dist=162363) chr3 16764089 16764089 T A het . 2 +UTR3 PLCL2(NM_001144382:c.*17C>T,NM_015184:c.*17C>T) chr3 17131421 17131421 C T het . 11 +intronic TBC1D5 chr3 17275173 17275173 G C het . 34 +exonic TBC1D5 chr3 17275177 17275177 C A het . 36 +intronic TBC1D5 chr3 17425738 17425738 A G het . 2 +intronic TBC1D5 chr3 17469888 17469889 TG - het . 8 +intronic TBC1D5 chr3 17532320 17532320 T C het . 4 +intergenic LOC105376975(dist=194405),LOC339862(dist=22505) chr3 17981559 17981559 G T het . 2 +intronic LOC339862 chr3 18297289 18297289 C T het . 3 +intergenic LOC339862(dist=55376),SATB1(dist=21094) chr3 18365786 18365786 T C het . 1 +exonic SATB1 chr3 18390958 18390958 C A het . 16 +exonic SATB1 chr3 18391133 18391135 CTG - het . 12 +intergenic SATB1-AS1(dist=98514),KCNH8(dist=519897) chr3 18670120 18670120 C T het . 2 +intergenic SATB1-AS1(dist=305936),KCNH8(dist=312475) chr3 18877542 18877542 T C het . 2 +intergenic SATB1-AS1(dist=305956),KCNH8(dist=312455) chr3 18877562 18877562 C T het . 3 +intergenic SATB1-AS1(dist=485462),KCNH8(dist=132949) chr3 19057068 19057068 C T het . 2 +intronic KCNH8 chr3 19556991 19556991 T - het . 5 +exonic KCNH8 chr3 19574902 19574902 C A het . 10 +exonic KCNH8 chr3 19575403 19575403 C A het . 24 +intronic EFHB chr3 19931170 19931170 T C het . 2 +intronic EFHB chr3 19955170 19955170 C G het . 2 +UTR3 RAB5A(NM_001292048:c.*350_*351insA,NM_004162:c.*350_*351insA) chr3 20025665 20025665 - A het . 11 +exonic PP2D1 chr3 20043487 20043487 T A het . 28 +UTR5 PP2D1(NM_001252657:c.-17G>A) chr3 20053581 20053581 C T het . 9 +intronic KAT2B chr3 20110071 20110071 C G het . 1 +intronic KAT2B chr3 20114044 20114044 T C het . 5 +intronic KAT2B chr3 20114048 20114048 G A het . 5 +intronic KAT2B chr3 20141530 20141530 C A het . 17 +intergenic LOC101927829(dist=660431),VENTXP7(dist=394367) chr3 21052851 21052851 T - het . 2 +ncRNA_exonic VENTXP7 chr3 21447525 21447525 G A het . 4 +ncRNA_exonic VENTXP7 chr3 21447895 21447895 C A het . 7 +ncRNA_exonic VENTXP7 chr3 21447896 21447896 A G het . 7 +ncRNA_exonic VENTXP7 chr3 21447901 21447901 - CC het . 5 +intronic ZNF385D chr3 21478152 21478152 T G het . 2 +intronic ZNF385D chr3 21488299 21488299 - A het . 1 +ncRNA_intronic ZNF385D-AS1 chr3 21602714 21602714 T G het . 2 +exonic ZNF385D chr3 21606093 21606093 G T het . 16 +intronic ZNF385D chr3 21650998 21650998 C A het . 4 +intergenic ZNF385D(dist=123665),ZNF385D-AS2(dist=82150) chr3 21916481 21916481 T - het . 2 +intergenic ZNF385D(dist=148519),ZNF385D-AS2(dist=57296) chr3 21941335 21941335 C T het . 3 +intergenic ZNF385D-AS2(dist=92097),UBE2E2-AS1(dist=1123144) chr3 22113417 22113417 G A het . 2 +intergenic ZNF385D-AS2(dist=214937),UBE2E2-AS1(dist=1000304) chr3 22236257 22236257 G A het . 2 +intergenic ZNF385D-AS2(dist=616032),UBE2E2-AS1(dist=599209) chr3 22637352 22637352 A G het . 1 +intergenic ZNF385D-AS2(dist=616044),UBE2E2-AS1(dist=599197) chr3 22637364 22637364 C A het . 1 +intergenic ZNF385D-AS2(dist=1034006),UBE2E2-AS1(dist=181235) chr3 23055326 23055326 A - het . 2 +intergenic ZNF385D-AS2(dist=1166953),UBE2E2-AS1(dist=48288) chr3 23188273 23188273 C T het . 4 +intergenic MIR548AC(dist=23469),UBE2E1-AS1(dist=173164) chr3 23672351 23672351 A T het . 1 +intergenic MIR548AC(dist=23489),UBE2E1-AS1(dist=173144) chr3 23672371 23672371 A G het . 3 +intronic RPL15 chr3 23963064 23963064 T G het . 6 +intronic NR1D2 chr3 23997328 23997328 G A het . 4 +intergenic NR1D2(dist=4140),LINC00691(dist=115216) chr3 24026249 24026249 T - het . 3 +intergenic LINC00691(dist=9768),THRB(dist=4139) chr3 24154506 24154506 C T het . 2 +intergenic LINC00691(dist=9774),THRB(dist=4133) chr3 24154512 24154512 A G het . 2 +intronic THRB chr3 24295853 24295853 G T het . 5 +intergenic THRB-AS1(dist=87278),RARB(dist=242034) chr3 24628780 24628780 T C het . 3 +intergenic THRB-AS1(dist=277810),RARB(dist=51502) chr3 24819312 24819312 G A het . 2 +intronic RARB chr3 24987736 24987736 C A het . 2 +intronic RARB chr3 25123001 25123001 G C het . 2 +intronic RARB chr3 25177101 25177101 C A het . 1 +intronic RARB chr3 25266865 25266865 G A het . 3 +intronic RARB chr3 25601292 25601292 G A het . 2 +intronic TOP2B chr3 25640465 25640465 C G het . 2 +intronic TOP2B chr3 25661557 25661557 - A het . 18 +intronic TOP2B chr3 25677684 25677684 C A het . 14 +intronic TOP2B chr3 25679443 25679443 C G het . 5 +intronic TOP2B chr3 25679474 25679474 T A het . 8 +UTR3 NGLY1(NM_001145295:c.*147G>T,NM_001145294:c.*37G>T,NM_018297:c.*37G>T,NM_001145293:c.*37G>T) chr3 25760914 25760914 C A het . 15 +intronic NGLY1 chr3 25791436 25791437 AA - het . 6 +downstream OXSM(dist=63) chr3 25836088 25836088 C A het . 2 +intergenic LINC00692(dist=52066),LRRC3B(dist=697045) chr3 25967252 25967252 - A het . 2 +intergenic LINC00692(dist=210303),LRRC3B(dist=538808) chr3 26125489 26125489 A G het . 2 +intergenic LRRC3B(dist=300540),NEK10(dist=99589) chr3 27052805 27052805 G C het . 1 +intergenic LRRC3B(dist=354208),NEK10(dist=45921) chr3 27106473 27106473 G A het . 2 +intronic NEK10 chr3 27157830 27157830 C T het . 5 +intronic NEK10 chr3 27260283 27260283 G A het . 2 +intronic NEK10 chr3 27329417 27329417 A C het . 4 +intronic NEK10 chr3 27350635 27350635 - TT het . 7 +intronic NEK10 chr3 27363637 27363637 - A het . 11 +intronic NEK10 chr3 27407087 27407087 T G het . 1 +intronic SLC4A7 chr3 27480085 27480089 ATAAC - het . 3 +intronic SLC4A7 chr3 27518167 27518167 C A het . 2 +intergenic EOMES(dist=30951),LINC01980(dist=43922) chr3 27795157 27795157 C T het . 1 +intergenic LINC01980(dist=95595),CMC1(dist=285713) chr3 27997411 27997411 - CCTTT het . 2 +intergenic LINC01980(dist=121673),CMC1(dist=259635) chr3 28023489 28023489 T - het . 3 +intronic CMC1 chr3 28357733 28357733 T - het . 17 +ncRNA_intronic LINC00693 chr3 28747616 28747616 T - het . 2 +ncRNA_intronic LINC00693 chr3 28761228 28761228 - TGC het . 11 +intergenic LINC00693(dist=172510),RBMS3-AS3(dist=333347) chr3 28972338 28972338 G T het . 2 +intergenic LINC00693(dist=264520),RBMS3-AS3(dist=241337) chr3 29064348 29064348 C T het . 2 +intergenic LINC00693(dist=501625),RBMS3-AS3(dist=4232) chr3 29301453 29301453 T C het . 1 +intronic RBMS3 chr3 29917869 29917869 A G het . 2 +intergenic RBMS3(dist=198233),LINC01985(dist=310241) chr3 30250119 30250119 A G het . 2 +intergenic RBMS3(dist=198245),LINC01985(dist=310229) chr3 30250131 30250131 A G het . 2 +intergenic RBMS3(dist=502011),LINC01985(dist=6463) chr3 30553897 30553897 C A het . 2 +intronic TGFBR2 chr3 30697330 30697330 C G het . 1 +intronic GADL1 chr3 30903304 30903304 C T het . 6 +intergenic MIR466(dist=176694),STT3B(dist=194020) chr3 31379973 31379973 G T het . 4 +intergenic MIR466(dist=255675),STT3B(dist=115039) chr3 31458954 31458954 - G het . 3 +intronic STT3B chr3 31621228 31621228 - AAA het . 5 +intronic STT3B chr3 31639335 31639335 A T het . 2 +intronic STT3B chr3 31642037 31642037 A T het . 10 +intronic OSBPL10 chr3 31725691 31725691 T C het . 1 +intronic OSBPL10 chr3 31810558 31810558 A G het . 1 +intronic OSBPL10 chr3 31822325 31822325 - A het . 3 +intronic OSBPL10 chr3 31822337 31822337 C - het . 3 +intronic OSBPL10 chr3 31857404 31857404 G A het . 1 +intronic OSBPL10 chr3 31925967 31925967 G A het . 1 +intronic OSBPL10 chr3 31953888 31953888 - A het . 2 +intronic OSBPL10 chr3 31972779 31972779 C T het . 2 +UTR5 ZNF860(NM_001137674:c.-118G>T) chr3 32030454 32030454 G T het . 5 +intronic GPD1L chr3 32200972 32200973 AG GA het . 10 +intergenic GPD1L(dist=26943),CMTM8(dist=43021) chr3 32237150 32237150 T - het . 3 +intronic CMTM8 chr3 32342468 32342468 T - het . 3 +intronic CMTM8 chr3 32388107 32388107 T - het . 2 +exonic CMTM8 chr3 32409408 32409408 C T het . 15 +intronic CMTM7 chr3 32444709 32444709 C T het . 2 +intronic CMTM6 chr3 32531906 32531906 C T het . 2 +intronic DYNC1LI1 chr3 32571824 32571824 A - het . 6 +intronic DYNC1LI1 chr3 32586236 32586237 AA - het . 6 +intronic CNOT10 chr3 32805843 32805843 G T het . 6 +intergenic CNOT10(dist=11746),TRIM71(dist=32397) chr3 32827113 32827113 A - het . 7 +intergenic CNOT10(dist=34608),TRIM71(dist=9535) chr3 32849975 32849975 G T het . 2 +intronic TRIM71 chr3 32894597 32894598 TC - het . 2 +UTR3 TRIM71(NM_001039111:c.*57_*58insTT) chr3 32933360 32933360 - TT het . 4 +UTR3 TRIM71(NM_001039111:c.*68_*69delTT) chr3 32933371 32933372 TT - het . 3 +intergenic TRIM71(dist=43409),CCR4(dist=10339) chr3 32982727 32982727 - TTGT het . 3 +intergenic TRIM71(dist=43422),CCR4(dist=10326) chr3 32982740 32982740 T - het . 3 +exonic CCR4 chr3 32995691 32995691 C A het . 20 +intergenic CCR4(dist=24072),GLB1(dist=17625) chr3 33020475 33020475 T C het . 1 +intronic GLB1 chr3 33042712 33042713 TC CT het . 2 +intronic GLB1 chr3 33138433 33138433 A C het . 15 +intronic SUSD5 chr3 33246120 33246134 TTTTGTTTTGTTTTG - het . 2 +exonic SUSD5 chr3 33255592 33255592 A G het . 3 +intronic UBP1 chr3 33444286 33444286 T G het . 1 +intronic CLASP2 chr3 33612365 33612366 AA - het . 9 +intronic CLASP2 chr3 33616716 33616716 T C het . 2 +intronic CLASP2 chr3 33618551 33618551 - A het . 7 +intronic CLASP2 chr3 33659426 33659426 T A het . 2 +exonic PDCD6IP chr3 33855083 33855083 C T het . 19 +UTR3 PDCD6IP(NM_001256192:c.*40_*41delTT) chr3 33868211 33868212 TT - het . 6 +intronic PDCD6IP chr3 33893930 33893930 T - het . 6 +intergenic PDCD6IP(dist=141494),LOC101928135(dist=864596) chr3 34052693 34052693 C A het . 2 +intergenic PDCD6IP(dist=229178),LOC101928135(dist=776912) chr3 34140377 34140377 C T het . 2 +intergenic PDCD6IP(dist=229194),LOC101928135(dist=776896) chr3 34140393 34140393 A G het . 2 +intergenic PDCD6IP(dist=235430),LOC101928135(dist=770660) chr3 34146629 34146629 - A het . 2 +intergenic PDCD6IP(dist=261433),LOC101928135(dist=744657) chr3 34172632 34172632 C G het . 2 +intergenic PDCD6IP(dist=319250),LOC101928135(dist=686840) chr3 34230449 34230449 G A het . 4 +intergenic PDCD6IP(dist=475465),LOC101928135(dist=530625) chr3 34386664 34386664 T C het . 3 +intergenic PDCD6IP(dist=762579),LOC101928135(dist=243511) chr3 34673778 34673778 T - het . 2 +intergenic PDCD6IP(dist=788274),LOC101928135(dist=217816) chr3 34699473 34699473 T - het . 2 +intergenic PDCD6IP(dist=788278),LOC101928135(dist=217812) chr3 34699477 34699477 T G het . 2 +intergenic PDCD6IP(dist=788282),LOC101928135(dist=217808) chr3 34699481 34699481 T G het . 2 +intergenic PDCD6IP(dist=812402),LOC101928135(dist=193688) chr3 34723601 34723601 G A het . 1 +ncRNA_intronic LOC101928135 chr3 35245530 35245530 - A het . 2 +intergenic LOC101928135(dist=40028),ARPP21(dist=205123) chr3 35475543 35475543 G C het . 2 +intergenic LOC101928135(dist=117330),ARPP21(dist=127821) chr3 35552845 35552845 C T het . 3 +intronic ARPP21 chr3 35709332 35709333 CA TG het . 3 +intronic ARPP21 chr3 35724255 35724256 TT - het . 10 +intronic ARPP21 chr3 35724256 35724256 T C het . 12 +intergenic ARPP21(dist=42918),STAC(dist=543073) chr3 35878906 35878906 G A het . 3 +intergenic ARPP21(dist=125089),STAC(dist=460902) chr3 35961077 35961077 C T het . 2 +intergenic ARPP21(dist=148356),STAC(dist=437635) chr3 35984344 35984344 G A het . 1 +intergenic ARPP21(dist=332710),STAC(dist=253281) chr3 36168698 36168698 C A het . 2 +intronic STAC chr3 36489691 36489691 C T het . 3 +intronic STAC chr3 36489717 36489720 TTTA - het . 4 +intergenic STAC(dist=56234),DCLK3(dist=108181) chr3 36645732 36645732 G T het . 1 +intergenic DCLK3(dist=28754),LINC02033(dist=51935) chr3 36810106 36810106 T C het . 5 +intronic TRANK1 chr3 36934343 36934343 - ATATATATATAT het . 3 +intronic MLH1 chr3 37055712 37055712 - GGGA het . 5 +intronic GOLGA4 chr3 37376876 37376876 G A het . 2 +intronic ITGA9 chr3 37544808 37544808 C T het . 16 +intronic ITGA9 chr3 37550028 37550028 T - het . 25 +intronic CTDSPL chr3 38009191 38009191 A C het . 13 +intronic PLCD1 chr3 38061928 38061928 C A het . 12 +intronic DLEC1 chr3 38135090 38135090 T G het . 12 +exonic MYD88 chr3 38181402 38181402 G C het . 17 +intronic OXSR1 chr3 38261270 38261270 - GAT het . 5 +intronic OXSR1 chr3 38287521 38287521 C T het . 5 +exonic SLC22A14 chr3 38347785 38347785 G A het . 13 +intronic SLC22A14 chr3 38355184 38355184 T C het . 7 +intergenic SLC22A14(dist=26145),XYLB(dist=2040) chr3 38386211 38386211 A G het . 1 +intergenic SLC22A14(dist=27088),XYLB(dist=1096) chr3 38387154 38387155 AA - het . 3 +intergenic SCN10A(dist=17442),SCN11A(dist=34317) chr3 38852943 38852943 - AA het . 2 +intronic SCN11A chr3 38899144 38899144 G A het . 2 +intronic SCN11A chr3 38926977 38926977 T G het . 2 +intronic SCN11A chr3 38941602 38941602 C A het . 11 +intronic WDR48 chr3 39125543 39125543 C T het . 11 +intronic TTC21A chr3 39156840 39156841 AA - het . 2 +exonic TTC21A chr3 39172211 39172211 C A het . 15 +exonic CSRNP1 chr3 39185248 39185248 A G het . 29 +intronic CX3CR1 chr3 39308293 39308293 A T het . 2 +intergenic CX3CR1(dist=7870),CCR8(dist=40101) chr3 39331096 39331096 A T het . 2 +intergenic CCR8(dist=25895),SLC25A38(dist=23749) chr3 39401066 39401066 G T het . 6 +intronic RPSA chr3 39452523 39452523 C T het . 13 +intergenic MOBP(dist=128036),MYRIP(dist=164874) chr3 39685530 39685531 AG - het . 1 +intronic MYRIP chr3 39908976 39908976 - AAT het . 2 +intronic MYRIP chr3 39951378 39951378 - G het . 2 +intronic MYRIP chr3 39951379 39951379 - TTG het . 2 +ncRNA_intronic EIF1B-AS1 chr3 40219446 40219446 T C het . 2 +ncRNA_intronic EIF1B-AS1 chr3 40285145 40285145 G T het . 2 +ncRNA_intronic EIF1B-AS1 chr3 40285160 40285160 G A het . 2 +ncRNA_intronic EIF1B-AS1 chr3 40291836 40291836 C T het . 12 +ncRNA_intronic EIF1B-AS1 chr3 40291877 40291877 C T het . 13 +ncRNA_intronic ENTPD3-AS1 chr3 40435657 40435657 A G het . 4 +intronic RPL14 chr3 40499182 40499182 C T het . 2 +intergenic RPL14(dist=7637),ZNF619(dist=7104) chr3 40511500 40511500 T - het . 2 +exonic ZNF620 chr3 40557795 40557795 C A het . 27 +intergenic ZNF620(dist=2024),ZNF621(dist=4633) chr3 40561736 40561736 A G het . 2 +downstream ZNF621(dist=946) chr3 40582231 40582231 C T het . 2 +intergenic ZNF621(dist=159520),CTNNB1(dist=500110) chr3 40740805 40740805 C A het . 15 +intergenic ZNF621(dist=179784),CTNNB1(dist=479846) chr3 40761069 40761069 A C het . 1 +intergenic ZNF621(dist=292125),CTNNB1(dist=367505) chr3 40873410 40873410 T - het . 3 +intergenic ZNF621(dist=514637),CTNNB1(dist=144993) chr3 41095922 41095922 A C het . 1 +exonic CTNNB1 chr3 41266887 41266887 C A het . 28 +intronic CTNNB1 chr3 41268677 41268678 AT - het . 20 +intronic ULK4 chr3 41484180 41484180 G A het . 2 +intronic ULK4 chr3 41492187 41492187 T A het . 2 +intronic ULK4 chr3 41554494 41554497 CTAA - het . 2 +intronic ULK4 chr3 41607701 41607701 C G het . 6 +intronic ULK4 chr3 41756846 41756846 A - het . 9 +intronic ULK4 chr3 41874789 41874789 T G het . 2 +intronic ULK4 chr3 41925261 41925277 AGAGAAAAAACAAGTGA - het . 11 +intronic ULK4 chr3 41925301 41925301 T C het . 13 +intronic ULK4 chr3 41939993 41939993 T A het . 24 +intronic ULK4 chr3 41954464 41954464 A G het . 13 +intronic ULK4 chr3 42001022 42001022 T - het . 2 +intergenic ULK4(dist=15078),TRAK1(dist=109679) chr3 42019010 42019013 AAAA - het . 10 +intergenic ULK4(dist=20117),TRAK1(dist=104643) chr3 42024049 42024049 - T het . 4 +intergenic LYZL4(dist=59201),VIPR1(dist=19496) chr3 42511295 42511295 A G het . 11 +exonic VIPR1 chr3 42555249 42555249 G - het . 6 +intronic SEC22C chr3 42599234 42599234 C T het . 7 +exonic NKTR chr3 42680269 42680271 GAG - het . 35 +exonic ZBTB47 chr3 42700717 42700717 A G het . 7 +exonic CCDC13 chr3 42794180 42794180 C A het . 20 +intronic CCDC13 chr3 42800778 42800778 G A het . 1 +intronic CCDC13 chr3 42810190 42810190 A - het . 2 +intronic HIGD1A chr3 42842449 42842449 C T het . 7 +intronic ANO10 chr3 43527526 43527526 C T het . 5 +intronic ANO10 chr3 43591142 43591142 G A het . 7 +intronic ABHD5 chr3 43759755 43759755 C T het . 2 +intergenic ABHD5(dist=12882),MIR138-1(dist=366959) chr3 43788745 43788745 A G het . 1 +intergenic ABHD5(dist=353168),MIR138-1(dist=26673) chr3 44129031 44129031 - A het . 13 +intergenic MIR138-1(dist=74368),TOPAZ1(dist=53208) chr3 44230170 44230170 C T het . 1 +exonic TOPAZ1 chr3 44285420 44285420 A G het . 21 +intronic TOPAZ1 chr3 44296867 44296867 A - het . 2 +intronic TCAIM chr3 44420289 44420289 A - het . 2 +exonic ZKSCAN7 chr3 44607013 44607013 T C het . 2 +ncRNA_intronic ZKSCAN7-AS1 chr3 44621467 44621467 - G het . 5 +ncRNA_intronic ZKSCAN7-AS1 chr3 44621494 44621494 T C het . 8 +ncRNA_intronic ZKSCAN7-AS1 chr3 44621980 44621980 C G het . 25 +exonic ZNF660 chr3 44635903 44635903 C A het . 12 +ncRNA_intronic ZKSCAN7-AS1,ZNF197-AS1 chr3 44661598 44661598 C T het . 2 +exonic ZNF197,ZNF660-ZNF197 chr3 44683672 44683672 C A het . 27 +exonic ZNF35 chr3 44701118 44701118 C A het . 13 +intergenic ZKSCAN7-AS1(dist=23543),ZNF502(dist=3446) chr3 44750688 44750689 TG - het . 3 +exonic ZNF502 chr3 44763037 44763037 A C het . 21 +exonic ZNF502 chr3 44763414 44763414 C A het . 18 +intronic KIF15 chr3 44826315 44826315 - T het . 12 +intronic KIF15 chr3 44843558 44843558 G A het . 6 +intergenic CDCP1(dist=45017),TMEM158(dist=33025) chr3 45232931 45232931 G T het . 1 +intronic LARS2 chr3 45440944 45440944 A G het . 2 +intronic LARS2 chr3 45450698 45450698 - T het . 4 +intronic LARS2 chr3 45515648 45515648 T C het . 5 +ncRNA_intronic LARS2-AS1 chr3 45542600 45542600 A G het . 2 +intergenic LARS2(dist=14676),LIMD1(dist=31319) chr3 45605004 45605004 T C het . 3 +exonic LIMD1 chr3 45637253 45637253 C T het . 9 +intronic LIMD1 chr3 45677635 45677635 - T het . 5 +intronic LIMD1 chr3 45677639 45677639 A - het . 5 +intronic SACM1L chr3 45748599 45748599 T A het . 1 +intronic SLC6A20 chr3 45821624 45821624 T C het . 4 +intergenic SLC6A20(dist=14341),LZTFL1(dist=12434) chr3 45852376 45852376 G C het . 1 +intronic LZTFL1 chr3 45868973 45868973 C A het . 22 +intronic LTF chr3 46477764 46477764 C T het . 8 +intronic LTF chr3 46509933 46509933 A G het . 2 +intergenic LRRC2(dist=4865),TDGF1(dist=3140) chr3 46612905 46612905 - G het . 2 +intergenic LRRC2(dist=4875),TDGF1(dist=3130) chr3 46612915 46612915 T G het . 2 +intronic FAM240A chr3 46663505 46663505 - T het . 2 +intergenic FAM240A(dist=8556),ALS2CL(dist=33896) chr3 46676589 46676589 T C het . 1 +intergenic FAM240A(dist=10206),ALS2CL(dist=32246) chr3 46678239 46678239 G A het . 2 +intergenic FAM240A(dist=10215),ALS2CL(dist=32237) chr3 46678248 46678248 G T het . 2 +intergenic FAM240A(dist=13813),ALS2CL(dist=28639) chr3 46681846 46681846 G C het . 1 +intronic ALS2CL chr3 46712570 46712570 C A het . 15 +exonic TMIE chr3 46751074 46751076 AAG - het . 28 +UTR3 CCDC12(NM_144716:c.*45A>G,NM_001277074:c.*45A>G) chr3 46963502 46963502 T C het . 3 +intronic NBEAL2 chr3 47029426 47029426 G A het . 4 +exonic NBEAL2 chr3 47045739 47045739 C G het . 8 +ncRNA_intronic KIF9-AS1 chr3 47215114 47215114 C A het . 2 +ncRNA_intronic KIF9-AS1 chr3 47267718 47267718 G A het . 2 +intronic KIF9 chr3 47312636 47312641 AAAAAG - het . 7 +intronic KIF9 chr3 47316725 47316725 G A het . 7 +intronic KLHL18 chr3 47361082 47361082 G T het . 13 +intronic KLHL18 chr3 47362842 47362846 TTTTT - het . 3 +exonic PTPN23 chr3 47449058 47449058 T C het . 14 +intronic PTPN23 chr3 47449580 47449580 T C het . 4 +exonic PTPN23 chr3 47454399 47454399 G A het . 2 +intronic SCAP chr3 47465349 47465349 C A het . 5 +intergenic SCAP(dist=3866),ELP6(dist=15812) chr3 47521315 47521318 AAAG - het . 2 +intronic ELP6 chr3 47551321 47551321 A G het . 2 +intergenic ELP6(dist=3269),CSPG5(dist=45260) chr3 47558468 47558468 T - het . 2 +intronic SMARCC1 chr3 47676665 47676665 C A het . 15 +intronic SMARCC1 chr3 47749581 47749581 T C het . 3 +intronic SMARCC1 chr3 47777774 47777774 C A het . 6 +intronic SMARCC1 chr3 47804556 47804556 A - het . 3 +intronic DHX30 chr3 47888715 47888715 A C het . 3 +intronic MAP4 chr3 47963444 47963444 T - het . 10 +intergenic MAP4(dist=39129),CDC25A(dist=28770) chr3 48169898 48169898 A - het . 2 +intergenic MAP4(dist=51557),CDC25A(dist=16342) chr3 48182326 48182326 A G het . 2 +intronic CDC25A chr3 48223282 48223282 A - het . 6 +intergenic CDC25A(dist=5254),MIR4443(dist=2999) chr3 48235055 48235055 C A het . 1 +intergenic CDC25A(dist=5256),MIR4443(dist=2997) chr3 48235057 48235057 C A het . 1 +intronic NME6 chr3 48342669 48342669 C T het . 2 +intergenic SPINK8(dist=40950),FBXW12(dist=2928) chr3 48410781 48410781 C A het . 1 +intronic FBXW12 chr3 48428432 48428432 T - het . 9 +exonic PLXNB1 chr3 48461019 48461019 G C het . 6 +ncRNA_intronic ATRIP-TREX1 chr3 48491350 48491350 - A het . 9 +ncRNA_intronic ATRIP-TREX1 chr3 48500740 48500740 C A het . 18 +exonic COL7A1 chr3 48610336 48610336 C A het . 31 +intronic COL7A1 chr3 48616887 48616887 C A het . 19 +intronic COL7A1 chr3 48621065 48621065 C A het . 32 +intronic COL7A1 chr3 48622422 48622422 C A het . 22 +intronic IP6K2 chr3 48730290 48730290 C A het . 3 +intronic PRKAR2A chr3 48831588 48831588 T - het . 8 +exonic ARIH2OS chr3 48956088 48956088 C A het . 38 +exonic ARIH2 chr3 48965064 48965066 GAA - het . 35 +exonic ARIH2 chr3 48965083 48965083 A C het . 38 +intronic ARIH2 chr3 48992766 48992766 T - het . 2 +intronic WDR6 chr3 49048449 49048449 A - het . 13 +intronic WDR6 chr3 49048535 49048535 T - het . 15 +exonic USP19 chr3 49156540 49156540 C A het . 12 +exonic CCDC71 chr3 49200627 49200627 A G het . 6 +exonic CCDC71 chr3 49200692 49200692 T A het . 8 +intronic USP4 chr3 49354976 49354976 T - het . 2 +UTR3 NICN1(NM_032316:c.*1356C>G) chr3 49460910 49460910 G C het . 2 +intronic NICN1 chr3 49463926 49463926 A G het . 2 +intergenic NICN1(dist=1932),DAG1(dist=37447) chr3 49468689 49468689 A C het . 1 +intronic IP6K1 chr3 49812866 49812866 C T het . 2 +exonic CDHR4 chr3 49831058 49831058 G A het . 12 +exonic UBA7 chr3 49846474 49846474 T G het . 15 +intronic TRAIP chr3 49884853 49884857 AAGAG - het . 7 +intronic MST1R chr3 49931343 49931343 A T het . 3 +intronic RBM6 chr3 50052867 50052867 T A het . 1 +intronic RBM6 chr3 50052870 50052870 T A het . 1 +intronic RBM6 chr3 50091941 50091941 - T het . 9 +intronic RBM6 chr3 50112590 50112590 A - het . 7 +intronic SLC38A3 chr3 50255305 50255305 A G het . 6 +intronic SLC38A3 chr3 50255330 50255330 C A het . 5 +intronic SLC38A3 chr3 50257251 50257251 C T het . 6 +UTR3 GNAI2(NM_001282620:c.*555_*556insA,NM_001282619:c.*555_*556insA,NM_001282617:c.*555_*556insA,NM_002070:c.*555_*556insA,NM_001282618:c.*555_*556insA,NM_001166425:c.*555_*556insA) chr3 50296330 50296330 - A het . 15 +intergenic CACNA2D2(dist=29830),C3orf18(dist=23951) chr3 50571505 50571505 A G het . 2 +intronic MAPKAPK3 chr3 50684489 50684489 A G het . 3 +intergenic MAPKAPK3(dist=14979),MIR4787(dist=10804) chr3 50701707 50701707 T C het . 3 +intronic DOCK3 chr3 50765477 50765477 G C het . 3 +intronic DOCK3 chr3 51038094 51038094 T - het . 2 +intronic DOCK3 chr3 51243219 51243219 G A het . 1 +intronic DOCK3 chr3 51251474 51251474 G A het . 4 +intronic DOCK3 chr3 51265669 51265669 C A het . 2 +exonic DOCK3 chr3 51375831 51375831 G C het . 14 +intronic DCAF1 chr3 51452025 51452025 T C het . 5 +intergenic DCAF1(dist=5050),RAD54L2(dist=33631) chr3 51539068 51539068 G A het . 2 +ncRNA_exonic IQCF5-AS1 chr3 51908430 51908430 T C het . 5 +intergenic IQCF5-AS1(dist=1335),IQCF1(dist=17774) chr3 51911118 51911118 C T het . 3 +intergenic IQCF1(dist=18577),RRP9(dist=11479) chr3 51955963 51955963 A G het . 3 +exonic RPL29 chr3 52027853 52027853 - CCTTGG het . 8 +exonic TWF2 chr3 52265507 52265507 C G het . 13 +upstream;downstream GLYCTK(dist=36);GLYCTK-AS1(dist=36) chr3 52321800 52321800 G T het . 10 +exonic GLYCTK chr3 52325039 52325039 G A het . 16 +UTR3 GLYCTK(NM_145262:c.*1209C>A) chr3 52328351 52328351 C A het . 7 +intronic DNAH1 chr3 52386808 52386808 T C het . 3 +intronic DNAH1 chr3 52415865 52415865 A G het . 2 +exonic DNAH1 chr3 52417882 52417882 C A het . 6 +exonic BAP1 chr3 52436873 52436873 C A het . 36 +intronic NISCH chr3 52492085 52492085 G A het . 2 +exonic NISCH chr3 52514236 52514236 A C het . 5 +exonic NISCH chr3 52514241 52514241 A C het . 5 +exonic NISCH chr3 52514248 52514248 A C het . 5 +intronic STAB1 chr3 52537969 52537969 T C het . 11 +intronic STAB1 chr3 52546487 52546487 C T het . 3 +intronic PBRM1 chr3 52676065 52676065 C T het . 9 +intronic GLT8D1 chr3 52730696 52730696 C A het . 12 +intronic ITIH1 chr3 52816314 52816314 C A het . 10 +intronic ITIH1 chr3 52821993 52821993 T C het . 6 +intronic ITIH3 chr3 52838044 52838044 G A het . 6 +intronic ITIH4 chr3 52854347 52854348 AG - het . 15 +intronic ITIH4 chr3 52854492 52854492 G A het . 6 +intronic MUSTN1,TMEM110-MUSTN1 chr3 52867595 52867595 C A het . 5 +intronic STIMATE,TMEM110-MUSTN1 chr3 52876716 52876716 C T het . 2 +intronic STIMATE,TMEM110-MUSTN1 chr3 52877647 52877647 - A het . 9 +intronic STIMATE,TMEM110-MUSTN1 chr3 52877649 52877649 G A het . 9 +intronic STIMATE,TMEM110-MUSTN1 chr3 52881096 52881096 T A het . 2 +exonic SFMBT1 chr3 52941583 52941583 C T het . 15 +intronic SFMBT1 chr3 52979178 52979178 A G het . 2 +exonic TKT chr3 53269163 53269163 G A het . 4 +splicing DCP1A chr3 53324820 53324825 TGGCAC - het . 11 +UTR5 CACNA1D(NM_001128839:c.-54T>C,NM_001128840:c.-54T>C,NM_000720:c.-54T>C) chr3 53529140 53529140 T C het . 4 +intronic CACNA1D chr3 53725190 53725190 G T het . 1 +intronic CACNA1D chr3 53753744 53753744 C A het . 26 +intronic CACNA1D chr3 53776857 53776857 C G het . 9 +intronic CACNA1D chr3 53776872 53776872 T G het . 7 +intronic CACNA1D chr3 53779580 53779580 G C het . 2 +intronic CACNA1D chr3 53783548 53783548 C A het . 20 +exonic CACNA1D chr3 53820954 53820954 C T het . 26 +exonic CHDH chr3 53857676 53857676 C T het . 11 +exonic CHDH chr3 53857803 53857803 A C het . 10 +exonic IL17RB chr3 53890983 53890983 C A het . 15 +intergenic SELENOK(dist=95502),CACNA2D3(dist=135149) chr3 54021544 54021544 C G het . 3 +intergenic SELENOK(dist=143763),CACNA2D3(dist=86888) chr3 54069805 54069805 C G het . 1 +intergenic SELENOK(dist=204927),CACNA2D3(dist=25724) chr3 54130969 54130969 C T het . 5 +intergenic SELENOK(dist=204973),CACNA2D3(dist=25675) chr3 54131015 54131018 TTCT - het . 2 +intronic CACNA2D3 chr3 54191863 54191866 AAAA - het . 2 +intronic CACNA2D3 chr3 54191870 54191870 A C het . 2 +intronic CACNA2D3 chr3 54191874 54191874 A C het . 2 +intronic CACNA2D3 chr3 54205065 54205065 C T het . 3 +intronic CACNA2D3 chr3 54222255 54222255 - AAAC het . 4 +intronic CACNA2D3 chr3 54225425 54225427 CAT - het . 6 +intronic CACNA2D3 chr3 54281372 54281372 A C het . 3 +intronic CACNA2D3 chr3 54623416 54623416 A C het . 2 +intronic CACNA2D3 chr3 54708571 54708571 G A het . 2 +intronic CACNA2D3,LRTM1 chr3 54976706 54976706 A G het . 2 +intronic CACNA2D3 chr3 55018616 55018616 T G het . 13 +ncRNA_intronic LINC02017 chr3 55214125 55214125 C T het . 2 +intergenic LINC02017(dist=238928),WNT5A(dist=37573) chr3 55462170 55462170 C T het . 1 +intronic ERC2 chr3 55573403 55573403 A C het . 4 +intronic ERC2 chr3 56037242 56037242 A - het . 8 +intronic ERC2 chr3 56037249 56037249 - G het . 9 +exonic ERC2 chr3 56053034 56053034 C A het . 20 +intronic ERC2 chr3 56093126 56093126 T - het . 2 +intronic ERC2 chr3 56207010 56207010 C A het . 2 +intronic ERC2 chr3 56301906 56301906 G A het . 2 +exonic ERC2 chr3 56468428 56468428 C A het . 7 +upstream CCDC66(dist=6) chr3 56591178 56591178 A G het . 9 +intronic CCDC66 chr3 56599258 56599258 - TATT het . 5 +exonic CCDC66 chr3 56627048 56627048 A G het . 28 +intronic CCDC66 chr3 56627358 56627358 G T het . 2 +intronic CCDC66 chr3 56632179 56632182 TTTG - het . 1 +exonic FAM208A chr3 56707635 56707635 C A het . 20 +intergenic FAM208A(dist=18434),ARHGEF3(dist=25747) chr3 56735699 56735699 - TT het . 4 +intergenic FAM208A(dist=26996),ARHGEF3(dist=17185) chr3 56744261 56744261 - AAAAAC het . 3 +exonic ARHGEF3 chr3 56763489 56763489 C A het . 28 +intronic ARHGEF3 chr3 56805010 56805010 G A het . 1 +intronic ARHGEF3 chr3 56932708 56932708 G A het . 2 +intronic IL17RD chr3 57153581 57153581 G A het . 2 +intronic IL17RD chr3 57168341 57168341 C T het . 11 +intronic APPL1 chr3 57292955 57292955 T - het . 5 +exonic DNAH12 chr3 57335885 57335885 C T het . 32 +intronic DNAH12 chr3 57391285 57391288 TTCA - het . 7 +intronic DNAH12 chr3 57414330 57414330 C A het . 2 +intronic DNAH12 chr3 57420696 57420696 C T het . 1 +intronic DNAH12 chr3 57422824 57422824 A G het . 9 +intronic DNAH12 chr3 57456093 57456093 - A het . 15 +intronic DNAH12 chr3 57473141 57473141 - AAAG het . 2 +intronic DNAH12 chr3 57488279 57488279 - TTC het . 10 +intronic DNAH12 chr3 57505772 57505772 T C het . 3 +exonic PDE12 chr3 57542273 57542273 C A het . 14 +intronic DENND6A,PDE12 chr3 57627500 57627500 T C het . 4 +intergenic DENND6A-DT(dist=30982),SLMAP(dist=29623) chr3 57713360 57713360 A C het . 2 +intergenic DENND6A-DT(dist=52135),SLMAP(dist=8470) chr3 57734513 57734513 - AAAAC het . 1 +intergenic DENND6A-DT(dist=52298),SLMAP(dist=8307) chr3 57734676 57734676 T - het . 4 +intronic SLMAP chr3 57829432 57829435 TTTC - het . 2 +intronic SLMAP chr3 57846577 57846577 C A het . 9 +intronic FLNB chr3 58095128 58095128 C A het . 11 +exonic FLNB chr3 58107008 58107008 C A het . 27 +intronic FLNB chr3 58109431 58109431 A - het . 7 +exonic FLNB chr3 58110119 58110119 G C het . 16 +intronic FLNB chr3 58141641 58141641 C A het . 12 +intronic ABHD6 chr3 58231554 58231554 - AAAG het . 2 +intronic ABHD6 chr3 58237885 58237885 A T het . 2 +intronic ABHD6 chr3 58239380 58239380 C T het . 2 +intronic HTD2,RPP14 chr3 58296208 58296208 A T het . 15 +intronic HTD2,RPP14 chr3 58296210 58296210 T - het . 15 +UTR5 PXK(NM_001349498:c.-125C>T) chr3 58319152 58319152 C T het . 2 +intronic PXK chr3 58351661 58351662 TT - het . 12 +intronic PDHB chr3 58416770 58416770 - TTA het . 20 +intronic ACOX2 chr3 58494879 58494879 T - het . 5 +intronic FAM107A chr3 58552623 58552623 C T het . 2 +intronic FAM107A chr3 58553302 58553302 G A het . 1 +intronic FAM3D chr3 58641352 58641352 C T het . 9 +ncRNA_intronic C3orf67-AS1 chr3 58884459 58884459 C A het . 1 +ncRNA_intronic C3orf67-AS1 chr3 58884479 58884479 C A het . 2 +intergenic C3orf67(dist=318605),LOC339902(dist=268659) chr3 59354363 59354363 T A het . 2 +intergenic C3orf67(dist=318615),LOC339902(dist=268649) chr3 59354373 59354373 G T het . 2 +intergenic C3orf67(dist=324648),LOC339902(dist=262616) chr3 59360406 59360406 A G het . 2 +intergenic C3orf67(dist=459621),LOC339902(dist=127643) chr3 59495379 59495379 - AGAC het . 2 +intronic FHIT chr3 59996969 59996969 C T het . 7 +intronic FHIT chr3 59999661 59999661 T A het . 4 +intronic FHIT chr3 60111308 60111308 A G het . 1 +intronic FHIT chr3 60241445 60241445 A G het . 2 +intronic FHIT chr3 60430590 60430590 T A het . 2 +intronic FHIT chr3 60663953 60663953 A G het . 2 +intronic FHIT chr3 60890153 60890153 A - het . 2 +intronic FHIT chr3 61153302 61153303 AA - het . 2 +intronic FHIT chr3 61182738 61182738 C T het . 2 +intronic PTPRG chr3 61637513 61637513 G A het . 1 +intronic PTPRG chr3 61731705 61731705 C T het . 3 +intronic PTPRG chr3 61743402 61743402 A C het . 2 +intronic PTPRG chr3 61989867 61989867 C T het . 2 +intronic PTPRG chr3 62012762 62012762 C T het . 1 +intronic PTPRG chr3 62012764 62012764 G C het . 1 +intronic PTPRG chr3 62086989 62086989 T C het . 3 +intronic PTPRG chr3 62153605 62153605 - T het . 8 +intronic PTPRG chr3 62180720 62180720 C T het . 3 +exonic PTPRG chr3 62189437 62189437 G C het . 4 +ncRNA_intronic PTPRG-AS1 chr3 62272237 62272237 - A het . 2 +ncRNA_intronic PTPRG-AS1 chr3 62288830 62288830 T C het . 2 +ncRNA_intronic PTPRG-AS1 chr3 62288839 62288839 T G het . 2 +intronic FEZF2 chr3 62357146 62357146 G A het . 1 +exonic FEZF2 chr3 62358019 62358019 C A het . 13 +intronic CADPS chr3 62431415 62431415 T C het . 9 +intronic CADPS chr3 62451161 62451161 C A het . 12 +intronic CADPS chr3 62611998 62611998 C T het . 1 +intronic CADPS chr3 62612013 62612013 C T het . 2 +intergenic LINC00698(dist=100835),SYNPR(dist=52342) chr3 63211572 63211572 A T het . 2 +intronic SYNPR chr3 63281961 63281961 - TTTT het . 3 +intronic SYNPR chr3 63343948 63343948 G A het . 3 +intronic SYNPR chr3 63375059 63375059 A T het . 2 +intronic SNTN chr3 63640535 63640535 A - het . 7 +exonic ATXN7 chr3 63981938 63981938 C A het . 31 +intronic PRICKLE2 chr3 64146632 64146639 AAACAAAC - het . 3 +intergenic PRICKLE2(dist=274894),ADAMTS9(dist=15306) chr3 64486025 64486025 T C het . 2 +intergenic PRICKLE2(dist=274910),ADAMTS9(dist=15290) chr3 64486041 64486041 C T het . 2 +ncRNA_intronic ADAMTS9-AS2 chr3 64690383 64690383 A T het . 3 +ncRNA_intronic ADAMTS9-AS2 chr3 64701890 64701890 T C het . 1 +ncRNA_intronic ADAMTS9-AS2 chr3 64706545 64706545 - C het . 2 +intronic MAGI1 chr3 65373063 65373063 - T het . 5 +intronic MAGI1 chr3 65409444 65409444 C T het . 1 +intronic MAGI1 chr3 65479068 65479068 A C het . 4 +intronic MAGI1 chr3 65679329 65679329 G A het . 1 +intronic MAGI1 chr3 65784007 65784007 C A het . 3 +intronic LRIG1 chr3 66458046 66458046 T C het . 2 +intronic LRIG1 chr3 66485495 66485495 - TGG het . 2 +intronic LRIG1 chr3 66485496 66485496 - A het . 2 +intergenic LRIG1(dist=95467),LOC105377143(dist=134490) chr3 66646312 66646312 G T het . 2 +intergenic LRIG1(dist=169461),LOC105377143(dist=60496) chr3 66720306 66720306 G A het . 1 +intergenic KBTBD8(dist=164021),MIR4272(dist=50235) chr3 67225653 67225653 A G het . 2 +intergenic MIR4272(dist=31506),SUCLG2(dist=103427) chr3 67307457 67307457 T C het . 2 +intergenic MIR4272(dist=74033),SUCLG2(dist=60899) chr3 67349984 67349985 AA - het . 2 +intronic SUCLG2 chr3 67431131 67431131 - AG het . 3 +intronic SUCLG2 chr3 67559217 67559217 T - het . 12 +intronic SUCLG2 chr3 67570634 67570634 T C het . 3 +intronic SUCLG2 chr3 67570650 67570650 C G het . 2 +ncRNA_intronic SUCLG2-AS1 chr3 67747286 67747286 C T het . 3 +ncRNA_intronic SUCLG2-AS1 chr3 67974057 67974057 C T het . 1 +intronic FAM19A1 chr3 68492625 68492627 AAA - het . 2 +intronic FAM19A1 chr3 68492636 68492636 A C het . 2 +intronic FAM19A1 chr3 68492642 68492642 A C het . 2 +intronic FAM19A4 chr3 68934478 68934479 AA - het . 4 +intronic FAM19A4 chr3 68963500 68963500 A C het . 2 +intronic EOGT chr3 69053444 69053444 T C het . 6 +intronic TMF1 chr3 69091716 69091716 T C het . 14 +intronic UBA3 chr3 69104695 69104695 T A het . 13 +intronic UBA3 chr3 69105622 69105622 C A het . 8 +intronic UBA3 chr3 69112673 69112673 G C het . 11 +intronic UBA3 chr3 69112677 69112677 C A het . 10 +intronic ARL6IP5 chr3 69147018 69147018 G T het . 1 +intronic ARL6IP5 chr3 69147030 69147030 G A het . 2 +intronic FRMD4B chr3 69245910 69245910 C A het . 5 +intronic FRMD4B chr3 69247825 69247825 C A het . 13 +intronic FRMD4B chr3 69390377 69390377 A G het . 1 +intergenic FRMD4B(dist=79352),MITF(dist=273779) chr3 69514807 69514807 T C het . 3 +intergenic FRMD4B(dist=79376),MITF(dist=273755) chr3 69514831 69514831 G C het . 3 +intergenic FRMD4B(dist=119103),MITF(dist=234028) chr3 69554558 69554558 C A het . 2 +intronic MITF chr3 69845553 69845553 A T het . 2 +intronic MITF chr3 69845572 69845572 C G het . 2 +intronic MITF chr3 70005695 70005695 C T het . 29 +intergenic SAMMSON(dist=82716),MDFIC2(dist=96463) chr3 70147167 70147167 C A het . 2 +intergenic SAMMSON(dist=110810),MDFIC2(dist=68369) chr3 70175261 70175261 T C het . 20 +intergenic SAMMSON(dist=110921),MDFIC2(dist=68258) chr3 70175372 70175372 C T het . 13 +intergenic MDFIC2(dist=62765),FOXP1(dist=579311) chr3 70424554 70424554 T - het . 2 +intergenic MDFIC2(dist=120291),FOXP1(dist=521785) chr3 70482080 70482080 A G het . 2 +intergenic MDFIC2(dist=543376),FOXP1(dist=98700) chr3 70905165 70905165 A - het . 4 +intergenic MDFIC2(dist=550021),FOXP1(dist=92055) chr3 70911810 70911810 A - het . 2 +UTR3 FOXP1(NM_001349341:c.*1037C>A,NM_001349337:c.*1037C>A,NM_001349343:c.*1037C>A,NM_001349342:c.*1037C>A,NM_001349340:c.*1037C>A,NM_032682:c.*1037C>A,NM_001244814:c.*1037C>A,NM_001244810:c.*1037C>A,NM_001244813:c.*1037C>A,NM_001349344:c.*1037C>A,NM_001244816:c.*1037C>A,NM_001244815:c.*1037C>A,NM_001349338:c.*1037C>A,NM_001244808:c.*1037C>A,NM_001244812:c.*1037C>A) chr3 71007361 71007361 G T het . 2 +intronic FOXP1 chr3 71197538 71197538 A - het . 2 +intronic FOXP1 chr3 71247572 71247572 A T het . 6 +intronic FOXP1 chr3 71247576 71247576 A T het . 5 +intronic FOXP1 chr3 71426956 71426956 C T het . 1 +intronic FOXP1 chr3 71594837 71594837 T C het . 1 +intronic EIF4E3 chr3 71779488 71779488 A G het . 1 +intergenic PROK2(dist=117424),LINC00877(dist=132889) chr3 71951781 71951781 C T het . 1 +intergenic LINC00870(dist=195659),RYBP(dist=4595) chr3 72419149 72419149 T A het . 3 +intergenic LINC00870(dist=195663),RYBP(dist=4591) chr3 72419153 72419153 T A het . 3 +upstream RYBP(dist=3) chr3 72495777 72495777 C G het . 9 +intergenic RYBP(dist=35888),LOC105377162(dist=180785) chr3 72531662 72531662 T C het . 1 +intergenic RYBP(dist=101892),LOC105377162(dist=114781) chr3 72597666 72597666 - A het . 4 +intronic GXYLT2 chr3 72977936 72977936 - A het . 5 +intronic GXYLT2 chr3 72978517 72978517 A G het . 21 +intronic GXYLT2 chr3 72994454 72994454 - AAAT het . 2 +intronic PPP4R2 chr3 73096591 73096591 - TAAT het . 4 +intronic PPP4R2 chr3 73113363 73113363 C A het . 12 +intergenic PPP4R2(dist=41577),PDZRN3(dist=271652) chr3 73159929 73159929 C T het . 1 +intergenic PPP4R2(dist=41633),PDZRN3(dist=271596) chr3 73159985 73159985 A C het . 3 +intergenic PPP4R2(dist=41637),PDZRN3(dist=271592) chr3 73159989 73159989 C G het . 3 +intergenic PPP4R2(dist=41639),PDZRN3(dist=271590) chr3 73159991 73159991 T C het . 3 +intergenic PPP4R2(dist=41663),PDZRN3(dist=271566) chr3 73160015 73160015 T A het . 2 +intergenic PPP4R2(dist=41670),PDZRN3(dist=271559) chr3 73160022 73160022 T G het . 2 +intergenic PPP4R2(dist=114097),PDZRN3(dist=199132) chr3 73232449 73232449 A G het . 15 +intronic PDZRN3 chr3 73440108 73440108 - A het . 4 +intronic PDZRN3 chr3 73457560 73457560 A G het . 2 +intronic PDZRN3 chr3 73564151 73564151 A G het . 1 +ncRNA_intronic LOC101927296 chr3 73570834 73570834 C A het . 2 +ncRNA_intronic LOC101927296 chr3 73570837 73570837 C A het . 2 +intergenic LINC02005(dist=179806),CNTN3(dist=203143) chr3 74108577 74108577 T C het . 2 +intergenic LINC02005(dist=182364),CNTN3(dist=200585) chr3 74111135 74111135 A G het . 1 +intronic CNTN3 chr3 74565665 74565665 C T het . 1 +intergenic CNTN3(dist=302013),MIR4444-2(dist=391323) chr3 74872304 74872304 C T het . 1 +intergenic CNTN3(dist=492602),MIR4444-2(dist=200734) chr3 75062893 75062893 T C het . 2 +intergenic CNTN3(dist=535565),MIR4444-2(dist=157771) chr3 75105856 75105856 - GAAG het . 2 +intergenic CNTN3(dist=563766),MIR4444-2(dist=129570) chr3 75134057 75134057 A G het . 4 +intergenic MIR4444-2(dist=12932),FAM86DP(dist=194072) chr3 75276631 75276631 A C het . 4 +intergenic MIR4444-2(dist=12942),FAM86DP(dist=194062) chr3 75276641 75276641 A C het . 4 +exonic ZNF717 chr3 75786832 75786832 C T het . 28 +exonic ZNF717 chr3 75786833 75786833 G A het . 28 +exonic ZNF717 chr3 75786845 75786845 T C het . 21 +intergenic ZNF717(dist=139517),ROBO2(dist=1115043) chr3 75974251 75974251 C T het . 2 +intergenic ZNF717(dist=150560),ROBO2(dist=1104000) chr3 75985294 75985294 T C het . 4 +intergenic ZNF717(dist=150563),ROBO2(dist=1103997) chr3 75985297 75985297 C A het . 3 +intergenic ZNF717(dist=152140),ROBO2(dist=1102420) chr3 75986874 75986874 G C het . 2 +intergenic ZNF717(dist=156566),ROBO2(dist=1097994) chr3 75991300 75991300 - C het . 1 +intergenic ZNF717(dist=358502),ROBO2(dist=896058) chr3 76193236 76193236 T C het . 1 +intergenic ZNF717(dist=724653),ROBO2(dist=529907) chr3 76559387 76559387 A G het . 2 +intergenic ZNF717(dist=795892),ROBO2(dist=458668) chr3 76630626 76630626 C A het . 2 +intergenic ZNF717(dist=803721),ROBO2(dist=450839) chr3 76638455 76638455 G T het . 2 +intergenic ZNF717(dist=848991),ROBO2(dist=405569) chr3 76683725 76683725 - G het . 2 +intergenic ZNF717(dist=849003),ROBO2(dist=405557) chr3 76683737 76683737 A G het . 2 +intergenic ZNF717(dist=943328),ROBO2(dist=311232) chr3 76778062 76778062 T - het . 2 +intergenic ZNF717(dist=1136099),ROBO2(dist=118458) chr3 76970833 76970836 TTTC - het . 2 +intronic ROBO2 chr3 77410828 77410828 T C het . 1 +intronic ROBO2 chr3 77535687 77535688 AT - het . 2 +intronic ROBO2 chr3 77645947 77645949 TTT - het . 19 +intergenic ROBO2(dist=129692),LINC02077(dist=259050) chr3 77828806 77828806 G T het . 2 +intergenic ROBO2(dist=287921),LINC02077(dist=100821) chr3 77987035 77987035 A C het . 1 +intronic ROBO1 chr3 78700779 78700779 C A het . 1 +intronic ROBO1 chr3 78742819 78742819 A G het . 3 +intronic ROBO1 chr3 78842286 78842286 A - het . 2 +intronic ROBO1 chr3 79812769 79812769 A C het . 2 +intronic ROBO1 chr3 79812789 79812789 A G het . 1 +intergenic ROBO1(dist=73927),LINC02050(dist=923062) chr3 79890986 79890986 T C het . 2 +intergenic ROBO1(dist=121601),LINC02050(dist=875388) chr3 79938660 79938660 C A het . 2 +intergenic ROBO1(dist=160722),LINC02050(dist=836267) chr3 79977781 79977781 A - het . 2 +intergenic ROBO1(dist=425696),LINC02050(dist=571293) chr3 80242755 80242755 C T het . 1 +intergenic ROBO1(dist=449149),LINC02050(dist=547840) chr3 80266208 80266208 C T het . 20 +intergenic ROBO1(dist=686498),LINC02050(dist=310487) chr3 80503557 80503561 AAAAC - het . 2 +intergenic ROBO1(dist=835281),LINC02050(dist=161708) chr3 80652340 80652340 A T het . 2 +intergenic ROBO1(dist=835297),LINC02050(dist=161692) chr3 80652356 80652356 A T het . 1 +intergenic LINC02050(dist=197662),LINC02027(dist=6818) chr3 81036201 81036201 G A het . 2 +intergenic LINC02027(dist=196840),GBE1(dist=197212) chr3 81341638 81341638 C A het . 2 +intergenic LINC02027(dist=338626),GBE1(dist=55426) chr3 81483424 81483424 G C het . 1 +intergenic LINC02027(dist=368471),GBE1(dist=25581) chr3 81513269 81513269 T C het . 1 +intergenic LINC02008(dist=42324),NONE(dist=NONE) chr3 82555150 82555150 C T het . 1 +intergenic LINC02008(dist=297986),LINC00971(dist=1876744) chr3 82810812 82810812 G A het . 1 +intergenic LINC02008(dist=342985),LINC00971(dist=1831745) chr3 82855811 82855811 C A het . 15 +intergenic LINC02008(dist=432166),LINC00971(dist=1742564) chr3 82944992 82944992 A - het . 2 +intergenic LINC02008(dist=650959),LINC00971(dist=1523770) chr3 83163785 83163786 GT AC het . 2 +intergenic LINC02025(dist=24394),CADM2(dist=41209) chr3 84966924 84966924 C T het . 3 +intergenic LINC02025(dist=24412),CADM2(dist=41191) chr3 84966942 84966942 T A het . 2 +intergenic LINC02025(dist=42395),CADM2(dist=23208) chr3 84984925 84984925 A G het . 2 +intronic CADM2 chr3 85023386 85023386 A G het . 2 +intronic CADM2 chr3 85455066 85455066 A G het . 2 +intronic CADM2 chr3 85539217 85539217 - ATTAT het . 2 +intronic CADM2 chr3 85539234 85539234 T C het . 2 +intronic CADM2 chr3 85564575 85564575 - T het . 3 +intronic CADM2 chr3 85593984 85593986 AAG - het . 2 +intronic CADM2 chr3 85605180 85605180 T C het . 2 +intronic CADM2 chr3 85605183 85605183 C T het . 2 +intronic CADM2 chr3 85605206 85605206 G T het . 1 +intronic CADM2 chr3 86062228 86062228 G A het . 24 +intronic CADM2 chr3 86062237 86062237 C T het . 26 +intergenic CADM2(dist=189343),LINC02070(dist=218171) chr3 86312922 86312922 A T het . 1 +intergenic VGLL3(dist=61208),LINC00506(dist=36949) chr3 87101481 87101481 C A het . 25 +UTR3 POU1F1(NM_001122757:c.*140A>T,NM_000306:c.*140A>T) chr3 87308904 87308904 T A het . 12 +intergenic POU1F1(dist=188131),HTR1F(dist=328049) chr3 87513868 87513868 - A het . 3 +intergenic POU1F1(dist=195556),HTR1F(dist=320624) chr3 87521293 87521293 C T het . 2 +intergenic HTR1F(dist=56515),CGGBP1(dist=1604) chr3 88099496 88099496 A T het . 2 +intergenic C3orf38(dist=68982),EPHA3(dist=880577) chr3 88276097 88276097 G T het . 2 +intergenic C3orf38(dist=85875),EPHA3(dist=863684) chr3 88292990 88292990 T - het . 2 +intergenic C3orf38(dist=109162),EPHA3(dist=840397) chr3 88316277 88316277 T C het . 2 +intergenic C3orf38(dist=167275),EPHA3(dist=782284) chr3 88374390 88374390 G T het . 2 +intergenic C3orf38(dist=285653),EPHA3(dist=663906) chr3 88492768 88492768 A G het . 2 +intergenic C3orf38(dist=411738),EPHA3(dist=537821) chr3 88618853 88618853 - G het . 2 +intergenic C3orf38(dist=792196),EPHA3(dist=157363) chr3 88999311 88999311 T C het . 5 +intergenic C3orf38(dist=853665),EPHA3(dist=95894) chr3 89060780 89060780 A - het . 2 +intergenic EPHA3(dist=30925),NONE(dist=NONE) chr3 89562209 89562209 T C het . 1 +intergenic EPHA3(dist=374574),NONE(dist=NONE) chr3 89905858 89905858 G T het . 16 +intergenic EPHA3(dist=745377),NONE(dist=NONE) chr3 90276661 90276661 G A het . 10 +intronic ARL13B chr3 93707631 93707632 TT - het . 5 +exonic STX19 chr3 93733448 93733448 C A het . 36 +intergenic NSUN3(dist=215776),MIR6730(dist=243205) chr3 94066451 94066451 T C het . 2 +intergenic NSUN3(dist=267627),MIR6730(dist=191354) chr3 94118302 94118302 C A het . 1 +intergenic NSUN3(dist=267641),MIR6730(dist=191340) chr3 94118316 94118316 C T het . 2 +intergenic NSUN3(dist=274888),MIR6730(dist=184093) chr3 94125563 94125563 C T het . 3 +intergenic NSUN3(dist=402176),MIR6730(dist=56805) chr3 94252851 94252851 G A het . 2 +intergenic NSUN3(dist=418107),MIR6730(dist=40874) chr3 94268782 94268782 C G het . 2 +intergenic MIR6730(dist=8354),LINC00879(dist=339077) chr3 94318030 94318030 A G het . 2 +intergenic MIR6730(dist=98630),LINC00879(dist=248801) chr3 94408306 94408306 A T het . 2 +intergenic LINC00879(dist=199319),MTHFD2P1(dist=463776) chr3 94909491 94909491 C T het . 1 +intergenic LINC00879(dist=208662),MTHFD2P1(dist=454433) chr3 94918834 94918834 T A het . 1 +intergenic LINC00879(dist=218341),MTHFD2P1(dist=444754) chr3 94928513 94928513 A G het . 2 +intergenic LINC00879(dist=581701),MTHFD2P1(dist=81394) chr3 95291873 95291873 C T het . 2 +ncRNA_intronic MTHFD2P1 chr3 95397836 95397836 C A het . 5 +intergenic MTHFD2P1(dist=16056),MIR8060(dist=660715) chr3 95418093 95418093 T - het . 2 +intergenic MTHFD2P1(dist=144580),MIR8060(dist=532191) chr3 95546617 95546617 T C het . 1 +intergenic MTHFD2P1(dist=267760),MIR8060(dist=409010) chr3 95669797 95669798 TC GA het . 1 +intergenic MTHFD2P1(dist=279808),MIR8060(dist=396963) chr3 95681845 95681845 G A het . 1 +intergenic MTHFD2P1(dist=377886),MIR8060(dist=298885) chr3 95779923 95779923 T C het . 1 +intergenic MTHFD2P1(dist=408755),MIR8060(dist=268016) chr3 95810792 95810792 A G het . 1 +intergenic MTHFD2P1(dist=449671),MIR8060(dist=227100) chr3 95851708 95851708 A C het . 1 +intergenic MTHFD2P1(dist=636319),MIR8060(dist=40452) chr3 96038356 96038356 C T het . 2 +intergenic MIR8060(dist=49127),EPHA6(dist=405415) chr3 96128010 96128010 G T het . 3 +intergenic MIR8060(dist=117377),EPHA6(dist=337165) chr3 96196260 96196260 A T het . 1 +intergenic MIR8060(dist=254786),EPHA6(dist=199756) chr3 96333669 96333669 A T het . 1 +intergenic MIR8060(dist=264233),EPHA6(dist=190309) chr3 96343116 96343116 A - het . 2 +intergenic MIR8060(dist=264237),EPHA6(dist=190305) chr3 96343120 96343120 T G het . 2 +intergenic MIR8060(dist=264239),EPHA6(dist=190303) chr3 96343122 96343122 T A het . 2 +intergenic MIR8060(dist=331617),EPHA6(dist=122925) chr3 96410500 96410500 G A het . 2 +intergenic MIR8060(dist=407233),EPHA6(dist=47309) chr3 96486116 96486116 G A het . 1 +intronic EPHA6 chr3 96728830 96728831 TT - het . 20 +exonic EPHA6 chr3 96728849 96728849 A C het . 26 +intronic EPHA6 chr3 97198113 97198113 T - het . 19 +intronic EPHA6 chr3 97198386 97198386 C T het . 5 +exonic RIOX2 chr3 97686159 97686159 C T het . 32 +exonic GABRR3 chr3 97731291 97731291 C A het . 27 +intronic GABRR3 chr3 97731434 97731434 - A het . 13 +intergenic GABRR3(dist=34776),OR5AC2(dist=17093) chr3 97788924 97788924 A G het . 1 +intergenic GABRR3(dist=34796),OR5AC2(dist=17073) chr3 97788944 97788944 T C het . 2 +intergenic OR5AC2(dist=1990),OR5H1(dist=42606) chr3 97808936 97808936 C A het . 1 +intergenic OR5H15(dist=27746),OR5H6(dist=66898) chr3 97916231 97916231 A G het . 17 +intergenic OR5H15(dist=27866),OR5H6(dist=66778) chr3 97916351 97916351 T C het . 14 +intergenic OR5H15(dist=27890),OR5H6(dist=66754) chr3 97916375 97916375 A G het . 13 +intergenic OR5H15(dist=27902),OR5H6(dist=66742) chr3 97916387 97916387 T C het . 9 +upstream OR5H6(dist=12) chr3 97983117 97983117 A G het . 12 +intergenic OR5K3(dist=36494),OR5K1(dist=41355) chr3 98146969 98146969 C T het . 2 +intergenic OR5K2(dist=8185),CLDND1(dist=8657) chr3 98225660 98225660 T G het . 5 +intronic ST3GAL6 chr3 98490141 98490141 A T het . 3 +intronic ST3GAL6 chr3 98503941 98503941 G A het . 7 +UTR3 DCBLD2(NM_080927:c.*55_*56insT) chr3 98518160 98518160 - A het . 2 +intronic DCBLD2 chr3 98519697 98519697 - T het . 4 +intronic DCBLD2 chr3 98536571 98536571 T C het . 2 +intronic DCBLD2 chr3 98539606 98539606 C A het . 2 +intronic DCBLD2 chr3 98540931 98540931 T C het . 10 +intronic DCBLD2 chr3 98544124 98544125 AA - het . 9 +intronic DCBLD2 chr3 98589507 98589507 A C het . 1 +intergenic DCBLD2(dist=632091),MIR548G(dist=20529) chr3 99252624 99252624 G T het . 2 +intergenic DCBLD2(dist=642294),MIR548G(dist=10326) chr3 99262827 99262827 G A het . 1 +intergenic DCBLD2(dist=644498),MIR548G(dist=8122) chr3 99265031 99265031 G A het . 1 +intronic TBC1D23 chr3 100015146 100015146 G T het . 10 +intronic TBC1D23 chr3 100015166 100015166 C T het . 8 +intronic TBC1D23 chr3 100016726 100016726 - T het . 9 +intronic TBC1D23 chr3 100016737 100016737 C A het . 10 +intronic TOMM70 chr3 100092526 100092526 - G het . 12 +intronic TOMM70 chr3 100092528 100092528 - GCA het . 13 +exonic LNP1 chr3 100170628 100170628 A G het . 35 +exonic LNP1 chr3 100170634 100170634 T C het . 35 +intergenic LNP1(dist=6698),TMEM45A(dist=29595) chr3 100181868 100181868 G A het . 3 +intergenic LNP1(dist=8376),TMEM45A(dist=27917) chr3 100183546 100183546 G A het . 1 +intronic ADGRG7 chr3 100364715 100364715 C A het . 15 +intronic TFG chr3 100432752 100432752 A - het . 14 +intronic TFG chr3 100432752 100432752 A T het . 13 +intronic TFG chr3 100432753 100432753 A T het . 14 +intronic TFG chr3 100433429 100433429 A G het . 2 +intronic TFG chr3 100433797 100433797 T C het . 3 +intronic TFG chr3 100447408 100447408 T - het . 4 +intronic TFG chr3 100447416 100447416 T A het . 4 +intronic ABI3BP chr3 100565384 100565384 C A het . 20 +intronic ABI3BP chr3 100581262 100581263 TT - het . 13 +intronic ABI3BP chr3 100594327 100594332 GGCATA - het . 10 +intronic ABI3BP chr3 100604786 100604786 C T het . 2 +intronic ABI3BP chr3 100612036 100612036 T G het . 1 +intergenic ABI3BP(dist=66176),IMPG2(dist=162880) chr3 100778510 100778510 T C het . 2 +intronic IMPG2 chr3 100945983 100945983 A T het . 7 +exonic IMPG2 chr3 100961532 100961532 C A het . 23 +intronic IMPG2 chr3 101011183 101011183 C T het . 2 +intronic SENP7 chr3 101048729 101048729 G A het . 2 +intronic SENP7 chr3 101049154 101049154 C A het . 10 +intronic SENP7 chr3 101066964 101066964 T C het . 4 +intronic SENP7 chr3 101067010 101067010 - AGA het . 2 +intronic SENP7 chr3 101165724 101165724 G A het . 2 +intronic SENP7 chr3 101212953 101212954 AC GT het . 3 +upstream SENP7(dist=8) chr3 101232093 101232093 C A het . 6 +ncRNA_exonic FAM172BP chr3 101241304 101241304 C A het . 27 +intergenic PCNP(dist=4713),ZBTB11(dist=50260) chr3 101318023 101318023 - T het . 2 +intergenic PCNP(dist=24319),ZBTB11(dist=30654) chr3 101337629 101337629 G A het . 2 +ncRNA_intronic LINC02085 chr3 101673536 101673536 C G het . 2 +intergenic LOC101929411(dist=100030),ZPLD1(dist=170114) chr3 101983745 101983745 C T het . 1 +intergenic ZPLD1(dist=202439),MIR548AB(dist=841753) chr3 102401124 102401124 - G het . 4 +intergenic ZPLD1(dist=358806),MIR548AB(dist=685386) chr3 102557491 102557491 A G het . 2 +intergenic ZPLD1(dist=368899),MIR548AB(dist=675293) chr3 102567584 102567584 T - het . 2 +intergenic ZPLD1(dist=378194),MIR548AB(dist=665957) chr3 102576879 102576920 TCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTTTCTCTCTCTC - het . 2 +intergenic ZPLD1(dist=383963),MIR548AB(dist=660229) chr3 102582648 102582648 C A het . 1 +intergenic ZPLD1(dist=383977),MIR548AB(dist=660215) chr3 102582662 102582662 G T het . 3 +intergenic ZPLD1(dist=584153),MIR548AB(dist=460039) chr3 102782838 102782838 C A het . 2 +intergenic ZPLD1(dist=1033420),MIR548AB(dist=10772) chr3 103232105 103232105 T G het . 2 +intergenic MIR548AB(dist=327906),MIR548A3(dist=332610) chr3 103570866 103570866 C A het . 2 +intergenic MIR548AB(dist=440887),MIR548A3(dist=219623) chr3 103683847 103683853 AAATAAA - het . 8 +intergenic MIR548AB(dist=501734),MIR548A3(dist=158782) chr3 103744694 103744694 G A het . 1 +intergenic MIR548AB(dist=593657),MIR548A3(dist=66859) chr3 103836617 103836617 C T het . 1 +intergenic MIR548A3(dist=73989),ALCAM(dist=1065463) chr3 104020094 104020094 T C het . 2 +intergenic MIR548A3(dist=136963),ALCAM(dist=1002489) chr3 104083068 104083068 T A het . 2 +intergenic MIR548A3(dist=192439),ALCAM(dist=947013) chr3 104138544 104138544 C T het . 1 +intergenic MIR548A3(dist=429223),ALCAM(dist=710229) chr3 104375328 104375328 - C het . 2 +intergenic MIR548A3(dist=433422),ALCAM(dist=706030) chr3 104379527 104379527 T C het . 3 +intergenic MIR548A3(dist=538469),ALCAM(dist=600983) chr3 104484574 104484574 G A het . 2 +intergenic MIR548A3(dist=543109),ALCAM(dist=596343) chr3 104489214 104489214 T C het . 1 +intergenic MIR548A3(dist=543114),ALCAM(dist=596338) chr3 104489219 104489219 T C het . 1 +intergenic MIR548A3(dist=586423),ALCAM(dist=553029) chr3 104532528 104532528 T C het . 4 +intergenic MIR548A3(dist=626353),ALCAM(dist=513099) chr3 104572458 104572458 G A het . 2 +intergenic MIR548A3(dist=675274),ALCAM(dist=464178) chr3 104621379 104621379 G A het . 2 +intergenic MIR548A3(dist=844015),ALCAM(dist=295437) chr3 104790120 104790120 A G het . 2 +intergenic MIR548A3(dist=1053125),ALCAM(dist=86327) chr3 104999230 104999230 C T het . 4 +intergenic MIR548A3(dist=1135943),ALCAM(dist=3509) chr3 105082048 105082048 G T het . 2 +intronic ALCAM chr3 105252687 105252687 G A het . 2 +intergenic CBLB(dist=6243),LINC00882(dist=1234128) chr3 105594509 105594509 G - het . 2 +intergenic CBLB(dist=235821),LINC00882(dist=1004550) chr3 105824087 105824087 C G het . 3 +intergenic CBLB(dist=377505),LINC00882(dist=862866) chr3 105965771 105965771 - CTTTT het . 3 +intergenic CBLB(dist=383308),LINC00882(dist=857063) chr3 105971574 105971574 G A het . 1 +intergenic CBLB(dist=637936),LINC00882(dist=602435) chr3 106226202 106226202 G A het . 2 +intergenic CBLB(dist=693605),LINC00882(dist=546766) chr3 106281871 106281871 G C het . 2 +intergenic CBLB(dist=693612),LINC00882(dist=546759) chr3 106281878 106281878 - AAA het . 2 +intergenic CBLB(dist=844163),LINC00882(dist=396208) chr3 106432429 106432429 G C het . 1 +intergenic CBLB(dist=1099252),LINC00882(dist=141119) chr3 106687518 106687518 T C het . 2 +intergenic CBLB(dist=1144198),LINC00882(dist=96173) chr3 106732464 106732464 A - het . 2 +intergenic CBLB(dist=1144203),LINC00882(dist=96168) chr3 106732469 106732469 A G het . 2 +intergenic CBLB(dist=1155458),LINC00882(dist=84913) chr3 106743724 106743724 G A het . 1 +intergenic CBLB(dist=1237002),LINC00882(dist=3369) chr3 106825268 106825268 - C het . 8 +intergenic LOC101929579(dist=5117),LINC01990(dist=43654) chr3 107106123 107106123 C T het . 2 +intergenic LINC01990(dist=22778),BBX(dist=36246) chr3 107205537 107205537 C A het . 2 +intronic BBX chr3 107417178 107417178 T A het . 2 +intronic BBX chr3 107474223 107474223 C G het . 2 +intronic BBX chr3 107510197 107510197 - TAAG het . 15 +intronic BBX chr3 107524097 107524097 A C het . 4 +UTR3 BBX(NM_001276286:c.*27C>A,NM_020235:c.*97C>A,NM_001142568:c.*97C>A) chr3 107524401 107524401 C A het . 3 +ncRNA_exonic LINC00636 chr3 107647010 107647010 - C het . 8 +intergenic CD47(dist=25325),LINC01215(dist=8651) chr3 107835260 107835260 - A het . 2 +intronic IFT57 chr3 107885875 107885875 A G het . 24 +exonic HHLA2 chr3 108074103 108074103 C A het . 32 +intronic MYH15 chr3 108102580 108102580 - A het . 7 +intronic MYH15 chr3 108102586 108102586 T A het . 5 +intronic MYH15 chr3 108122776 108122776 A G het . 1 +exonic MYH15 chr3 108147552 108147552 G A het . 18 +exonic MYH15 chr3 108147728 108147728 T C het . 9 +intronic MYH15 chr3 108179219 108179219 - A het . 9 +intronic MYH15 chr3 108211869 108211869 - AAGG het . 4 +intronic MYH15 chr3 108224686 108224687 AA - het . 10 +intronic MYH15 chr3 108229437 108229437 - A het . 13 +intronic CIP2A chr3 108291641 108291641 T C het . 1 +intronic DZIP3 chr3 108327050 108327050 - AAC het . 16 +intronic DZIP3 chr3 108343147 108343149 GTT - het . 6 +intronic DZIP3 chr3 108403019 108403019 - G het . 3 +exonic DZIP3 chr3 108403086 108403086 T C het . 11 +intergenic RETNLB(dist=29332),TRAT1(dist=36083) chr3 108505462 108505462 - G het . 3 +intronic TRAT1 chr3 108541932 108541933 AT - het . 6 +intronic GUCA1C chr3 108630682 108630682 G A het . 2 +intronic GUCA1C chr3 108630705 108630705 A C het . 2 +exonic GUCA1C chr3 108639423 108639423 C T het . 8 +intronic GUCA1C chr3 108672336 108672336 A - het . 10 +intronic MORC1 chr3 108754059 108754059 C T het . 3 +exonic MORC1 chr3 108754238 108754238 A T het . 24 +intronic MORC1 chr3 108754320 108754320 - AA het . 4 +intronic MORC1 chr3 108754347 108754347 A - het . 13 +intronic MORC1 chr3 108773810 108773810 T - het . 5 +intronic MORC1 chr3 108809493 108809493 G A het . 2 +intronic MORC1 chr3 108829765 108829765 C T het . 7 +downstream C3orf85(dist=83) chr3 108869034 108869034 T A het . 2 +downstream C3orf85(dist=87) chr3 108869038 108869038 - A het . 2 +downstream C3orf85(dist=91) chr3 108869042 108869042 G A het . 2 +intergenic LINC00488(dist=75251),DPPA2(dist=33276) chr3 108979359 108979359 T G het . 1 +intronic DPPA4 chr3 109049720 109049720 - TAAGGGT het . 4 +intronic DPPA4 chr3 109050980 109050980 T C het . 5 +intergenic DPPA4(dist=66461),LINC01205(dist=5957) chr3 109122880 109122880 A G het . 1 +ncRNA_intronic LINC01205 chr3 109191875 109191875 G - het . 3 +intergenic MIR4445(dist=32346),NECTIN3-AS1(dist=1410073) chr3 109354090 109354090 T A het . 2 +intergenic MIR4445(dist=164155),NECTIN3-AS1(dist=1278264) chr3 109485899 109485899 T - het . 2 +intergenic MIR4445(dist=234126),NECTIN3-AS1(dist=1208293) chr3 109555870 109555870 G A het . 2 +intergenic MIR4445(dist=262025),NECTIN3-AS1(dist=1180394) chr3 109583769 109583769 C A het . 2 +intergenic MIR4445(dist=542576),NECTIN3-AS1(dist=899843) chr3 109864320 109864320 G C het . 4 +intergenic MIR4445(dist=629716),NECTIN3-AS1(dist=812703) chr3 109951460 109951460 T C het . 1 +intergenic MIR4445(dist=629901),NECTIN3-AS1(dist=812518) chr3 109951645 109951645 C G het . 4 +intergenic MIR4445(dist=910191),NECTIN3-AS1(dist=532228) chr3 110231935 110231935 C A het . 2 +intergenic MIR4445(dist=949281),NECTIN3-AS1(dist=493138) chr3 110271025 110271025 C A het . 2 +intergenic MIR4445(dist=955192),NECTIN3-AS1(dist=487227) chr3 110276936 110276936 A T het . 1 +intergenic MIR4445(dist=1036101),NECTIN3-AS1(dist=406318) chr3 110357845 110357845 G A het . 2 +intergenic MIR4445(dist=1079788),NECTIN3-AS1(dist=362631) chr3 110401532 110401532 G T het . 26 +intergenic MIR4445(dist=1377522),NECTIN3-AS1(dist=64897) chr3 110699266 110699266 G T het . 1 +intergenic MIR4445(dist=1377527),NECTIN3-AS1(dist=64892) chr3 110699271 110699271 - A het . 2 +intergenic MIR4445(dist=1377561),NECTIN3-AS1(dist=64858) chr3 110699305 110699305 T C het . 2 +intronic NECTIN3 chr3 110866437 110866437 G A het . 9 +intergenic NECTIN3(dist=143046),CD96(dist=204864) chr3 111056062 111056062 C A het . 2 +intergenic NECTIN3(dist=256349),CD96(dist=91561) chr3 111169365 111169365 A - het . 3 +intergenic NECTIN3(dist=258356),CD96(dist=89554) chr3 111171372 111171372 C A het . 1 +intergenic NECTIN3(dist=293708),CD96(dist=54202) chr3 111206724 111206724 A G het . 2 +intergenic NECTIN3(dist=298946),CD96(dist=48964) chr3 111211962 111211962 A C het . 2 +intronic CD96 chr3 111316886 111316886 - TTATG het . 10 +intronic PHLDB2 chr3 111632133 111632143 CCCACTGACCT - het . 3 +intronic PHLDB2 chr3 111638199 111638199 A G het . 4 +intronic PHLDB2 chr3 111639353 111639353 G T het . 9 +intronic PHLDB2 chr3 111671284 111671284 A G het . 5 +intronic ABHD10 chr3 111710202 111710202 T - het . 7 +intronic TMPRSS7 chr3 111766215 111766215 A G het . 9 +intronic TMPRSS7 chr3 111793316 111793316 G T het . 4 +intronic C3orf52 chr3 111805438 111805438 - T het . 5 +ncRNA_exonic MIR567 chr3 111831724 111831724 A - het . 26 +intronic SLC9C1 chr3 111869973 111869973 G A het . 2 +intronic SLC9C1 chr3 111873902 111873902 - A het . 18 +intronic SLC9C1 chr3 111923047 111923047 G A het . 3 +intronic SLC9C1 chr3 111936200 111936200 C A het . 7 +intronic SLC9C1 chr3 111936207 111936207 T A het . 7 +intronic SLC9C1 chr3 111936564 111936564 G A het . 2 +intergenic CD200(dist=19566),BTLA(dist=81589) chr3 112101224 112101224 T G het . 2 +intergenic CD200(dist=19918),BTLA(dist=81237) chr3 112101576 112101576 C T het . 1 +intronic ATG3 chr3 112253193 112253193 - A het . 6 +intronic ATG3 chr3 112253234 112253236 AAG - het . 11 +UTR5 SLC35A5(NM_001348906:c.-2033G>A) chr3 112280218 112280218 G A het . 10 +intronic SLC35A5 chr3 112301359 112301360 TA - het . 2 +intronic SLC35A5 chr3 112301458 112301458 - CTTAGTAAT het . 18 +intergenic LINC02042(dist=30084),LOC100129297(dist=23075) chr3 112498250 112498250 A G het . 2 +exonic GTPBP8 chr3 112715746 112715746 A T het . 14 +exonic NEPRO chr3 112730176 112730176 C A het . 27 +intronic NEPRO chr3 112738318 112738318 C T het . 3 +upstream NEPRO(dist=45) chr3 112738625 112738625 C T het . 2 +intergenic NEPRO(dist=59894),LINC02044(dist=62723) chr3 112798474 112798474 G A het . 6 +intergenic NEPRO(dist=71874),LINC02044(dist=50743) chr3 112810454 112810454 A G het . 2 +intergenic NEPRO(dist=108982),LINC02044(dist=13635) chr3 112847562 112847562 T C het . 1 +intronic CFAP44 chr3 113015436 113015436 G C het . 2 +exonic CFAP44 chr3 113063447 113063447 C A het . 21 +intronic CFAP44 chr3 113079774 113079774 A - het . 8 +intronic SPICE1 chr3 113207969 113207969 T - het . 12 +intronic SIDT1 chr3 113300183 113300183 A T het . 4 +intronic NAA50 chr3 113442784 113442784 - A het . 7 +intronic GRAMD1C chr3 113594465 113594465 C A het . 11 +intronic QTRT2 chr3 113802162 113802170 TGTTGTTGT - het . 1 +intergenic QTRT2(dist=39074),DRD3(dist=1157) chr3 113846342 113846342 G A het . 2 +UTR3 ZNF80(NM_007136:c.*44delT) chr3 113955056 113955056 A - het . 3 +intronic ZBTB20 chr3 114602764 114602764 T C het . 3 +intronic ZBTB20 chr3 114626063 114626063 - AG het . 1 +intronic ZBTB20 chr3 114662758 114662758 A - het . 2 +intronic ZBTB20 chr3 114730257 114730257 G T het . 1 +intronic LSAMP chr3 115535432 115535432 T C het . 18 +intronic LSAMP chr3 115916171 115916171 C T het . 1 +intronic LSAMP chr3 115945064 115945064 C T het . 2 +intronic LSAMP chr3 115962943 115962943 C A het . 2 +intronic LSAMP chr3 115973250 115973250 T A het . 2 +intronic LSAMP chr3 115989027 115989027 A C het . 2 +intergenic LINC00903(dist=55159),TUSC7(dist=86188) chr3 116342447 116342447 G A het . 2 +intergenic LINC00903(dist=55162),TUSC7(dist=86185) chr3 116342450 116342450 T C het . 2 +intergenic LINC00903(dist=100002),TUSC7(dist=41345) chr3 116387290 116387290 C T het . 2 +intergenic TUSC7(dist=35365),MIR4447(dist=97872) chr3 116471252 116471252 C A het . 2 +intergenic MIR4447(dist=1088),LINC00901(dist=69976) chr3 116570302 116570302 A G het . 2 +intergenic LINC00901(dist=31890),LINC02024(dist=714565) chr3 116682975 116682975 A T het . 2 +intergenic LINC00901(dist=95482),LINC02024(dist=650973) chr3 116746567 116746567 A - het . 4 +intergenic LINC00901(dist=165601),LINC02024(dist=580854) chr3 116816686 116816686 C T het . 2 +intergenic LINC00901(dist=202198),LINC02024(dist=544257) chr3 116853283 116853283 C A het . 2 +intergenic LINC00901(dist=202200),LINC02024(dist=544255) chr3 116853285 116853285 A - het . 2 +intergenic LINC00901(dist=459025),LINC02024(dist=287430) chr3 117110110 117110110 T C het . 1 +intergenic LINC00901(dist=536787),LINC02024(dist=209668) chr3 117187872 117187872 A G het . 2 +intergenic LINC02024(dist=50866),LOC105374060(dist=766620) chr3 117460638 117460638 G A het . 2 +intergenic LINC02024(dist=50876),LOC105374060(dist=766610) chr3 117460648 117460648 T C het . 1 +intergenic LINC02024(dist=442429),LOC105374060(dist=375053) chr3 117852201 117852205 AGGAA - het . 3 +intergenic LINC02024(dist=578397),LOC105374060(dist=239089) chr3 117988169 117988169 A G het . 1 +intergenic LINC02024(dist=591432),LOC105374060(dist=226054) chr3 118001204 118001204 C T het . 2 +ncRNA_intronic LOC105374060 chr3 118436597 118436597 T G het . 2 +intronic ARHGAP31 chr3 119013988 119013988 T - het . 5 +intronic ARHGAP31 chr3 119054576 119054576 C T het . 1 +exonic ARHGAP31 chr3 119084258 119084258 C A het . 43 +intronic ARHGAP31 chr3 119099598 119099598 A G het . 2 +intronic POGLUT1 chr3 119196334 119196334 G T het . 3 +intergenic MAATS1(dist=6851),NR1I2(dist=6528) chr3 119492800 119492803 GAAG - het . 2 +intronic NR1I2 chr3 119511158 119511158 C G het . 18 +intronic NR1I2 chr3 119511216 119511216 G A het . 23 +exonic NR1I2 chr3 119533910 119533910 T C het . 33 +exonic NR1I2 chr3 119533938 119533938 C T het . 28 +intronic GSK3B chr3 119748666 119748666 G T het . 19 +intergenic GSK3B(dist=19694),GPR156(dist=51370) chr3 119832958 119832958 C T het . 1 +intronic GPR156 chr3 119955713 119955713 A T het . 2 +intergenic GPR156(dist=46429),LRRC58(dist=34005) chr3 120009571 120009571 C T het . 2 +intronic LRRC58 chr3 120065169 120065169 A G het . 5 +intergenic FSTL1(dist=3047),NDUFB4(dist=142162) chr3 120172965 120172966 AC - het . 2 +intergenic FSTL1(dist=107665),NDUFB4(dist=37545) chr3 120277583 120277583 A G het . 2 +intronic HGD chr3 120369575 120369575 T G het . 18 +intronic HGD chr3 120371369 120371369 G A het . 8 +intronic HGD chr3 120371387 120371387 C A het . 12 +intronic HGD chr3 120371414 120371414 G A het . 18 +intronic RABL3 chr3 120412922 120412922 C A het . 12 +intronic RABL3 chr3 120449707 120449709 TAC - het . 11 +exonic GTF2E1 chr3 120469773 120469773 C A het . 31 +intronic STXBP5L chr3 121043563 121043563 G A het . 8 +intronic POLQ chr3 121202132 121202133 TT - het . 4 +intronic POLQ chr3 121213811 121213811 A - het . 8 +exonic FBXO40 chr3 121340536 121340536 T C het . 9 +exonic HCLS1 chr3 121351315 121351315 - GGCTCAGGCTCA het . 9 +intronic GOLGB1 chr3 121418755 121418755 C A het . 15 +intronic GOLGB1 chr3 121445302 121445302 G A het . 7 +intronic IQCB1 chr3 121514454 121514454 T G het . 25 +intronic IQCB1 chr3 121514459 121514460 AA - het . 18 +intronic IQCB1 chr3 121515940 121515940 - T het . 24 +exonic IQCB1 chr3 121516005 121516005 C A het . 44 +intronic IQCB1 chr3 121527904 121527904 T - het . 17 +exonic EAF2 chr3 121591543 121591543 G A het . 24 +intergenic EAF2(dist=3777),SLC15A2(dist=4021) chr3 121609150 121609150 C A het . 1 +intronic SLC15A2 chr3 121631841 121631841 G A het . 4 +intronic ILDR1 chr3 121720494 121720494 C T het . 9 +intronic ILDR1 chr3 121720515 121720515 T - het . 6 +intronic CD86 chr3 121836967 121836968 GA - het . 21 +intronic CASR chr3 121912051 121912051 - TGTT het . 4 +exonic CASR chr3 121976148 121976148 C T het . 29 +intronic CASR chr3 121980242 121980242 T C het . 4 +exonic CASR chr3 121980384 121980384 G A het . 29 +intronic CASR chr3 121998105 121998105 T C het . 2 +exonic CASR chr3 122003039 122003039 G A het . 13 +exonic CASR chr3 122003045 122003045 G C het . 14 +intergenic CASR(dist=17821),CSTA(dist=20846) chr3 122023165 122023165 G T het . 2 +intronic KPNA1 chr3 122172361 122172364 TTTT - het . 3 +intronic KPNA1 chr3 122172361 122172361 T G het . 3 +intronic PARP9 chr3 122259745 122259745 - T het . 3 +intronic PARP9 chr3 122259782 122259782 A G het . 4 +intronic PARP9 chr3 122269380 122269380 A G het . 17 +intronic DTX3L chr3 122289005 122289005 A G het . 3 +intergenic PARP15(dist=21673),PARP14(dist=20105) chr3 122379567 122379567 C A het . 8 +intronic PARP14 chr3 122428747 122428747 - G het . 5 +intronic HSPBAP1 chr3 122464020 122464020 A C het . 2 +intronic HSPBAP1 chr3 122464026 122464026 A C het . 2 +intronic HSPBAP1 chr3 122471408 122471408 A - het . 10 +intronic HSPBAP1 chr3 122471424 122471424 C - het . 11 +intronic HSPBAP1 chr3 122474285 122474286 AA - het . 3 +intronic HSPBAP1 chr3 122474305 122474305 C A het . 5 +intergenic LINC02035(dist=9062),SEMA5B(dist=7715) chr3 122620325 122620325 C G het . 2 +intronic SEMA5B chr3 122632535 122632535 T G het . 7 +intronic SEMA5B chr3 122642724 122642724 - CAC het . 2 +intronic SEMA5B chr3 122654975 122654975 G T het . 2 +intronic SEMA5B chr3 122654982 122654982 G T het . 2 +intronic PDIA5 chr3 122821108 122821108 C T het . 3 +intronic PDIA5 chr3 122821671 122821672 AT GA het . 19 +intronic PDIA5 chr3 122829934 122829934 T G het . 2 +intronic PDIA5 chr3 122829936 122829936 T G het . 2 +intronic ADCY5 chr3 123010276 123010276 G A het . 5 +intronic ADCY5 chr3 123046723 123046723 C T het . 4 +intronic ADCY5 chr3 123066555 123066555 - AAGG het . 5 +intronic ADCY5 chr3 123115083 123115084 AA - het . 2 +ncRNA_intronic MYLK-AS1 chr3 123332875 123332875 - T het . 10 +ncRNA_intronic MYLK-AS1 chr3 123338956 123338956 T A het . 14 +exonic MYLK chr3 123359207 123359207 C T het . 31 +intronic MYLK chr3 123403401 123403401 T C het . 2 +intronic MYLK chr3 123443591 123443594 ATTT - het . 2 +intronic MYLK chr3 123558705 123558705 G A het . 2 +intronic CCDC14 chr3 123675557 123675557 C A het . 21 +intergenic ROPN1(dist=57341),KALRN(dist=45170) chr3 123768358 123768358 G T het . 1 +intronic KALRN chr3 123871399 123871399 - T het . 5 +intronic KALRN chr3 123871405 123871405 T G het . 5 +intronic KALRN chr3 123888182 123888182 A G het . 1 +intronic KALRN chr3 124097532 124097533 TT - het . 2 +intronic KALRN chr3 124309494 124309494 G A het . 2 +intronic KALRN chr3 124321787 124321788 GT - het . 1 +intronic KALRN chr3 124321795 124321795 T G het . 1 +intronic KALRN chr3 124349227 124349227 - TGTT het . 4 +intronic KALRN chr3 124361650 124361650 C T het . 2 +intronic KALRN chr3 124361652 124361652 C T het . 2 +intronic KALRN chr3 124378147 124378147 C T het . 11 +intronic KALRN chr3 124379641 124379641 C A het . 4 +intronic KALRN chr3 124412524 124412524 T G het . 7 +intronic KALRN chr3 124416711 124416711 A G het . 3 +intronic KALRN chr3 124416744 124416744 C T het . 3 +intronic KALRN chr3 124420625 124420625 T G het . 2 +intronic UMPS chr3 124458740 124458740 C A het . 18 +UTR3 UMPS(NM_000373:c.*4631T>G) chr3 124467562 124467562 T G het . 3 +UTR3 UMPS(NM_000373:c.*5100C>A) chr3 124468031 124468031 C A het . 27 +intronic MUC13 chr3 124635444 124635444 A G het . 4 +intronic MUC13 chr3 124642587 124642587 T - het . 6 +exonic MUC13 chr3 124646594 124646594 A G het . 30 +intronic SLC12A8 chr3 124842062 124842062 T G het . 2 +UTR3 ZNF148(NM_001348425:c.*13delA,NM_001348426:c.*13delA,NM_001348428:c.*13delA,NM_001348430:c.*13delA,NM_001348431:c.*13delA,NM_021964:c.*13delA,NM_001348424:c.*13delA,NM_001348429:c.*13delA,NM_001348432:c.*13delA,NM_001348434:c.*13delA,NM_001348433:c.*13delA,NM_001348427:c.*13delA) chr3 124951172 124951172 T - het . 4 +intronic ZNF148 chr3 124971233 124971233 G A het . 1 +intronic ZNF148 chr3 125000909 125000909 C A het . 2 +intronic ZNF148 chr3 125062531 125062531 C T het . 5 +intergenic OSBPL11(dist=152255),LOC105374312(dist=26921) chr3 125466636 125466636 A C het . 3 +intergenic OSBPL11(dist=152265),LOC105374312(dist=26911) chr3 125466646 125466646 C A het . 1 +intergenic OSBPL11(dist=170882),LOC105374312(dist=8294) chr3 125485263 125485263 G A het . 1 +upstream FAM86JP(dist=39) chr3 125635405 125635405 G C het . 7 +intronic ZXDC chr3 126161439 126161439 A C het . 1 +intronic UROC1 chr3 126211479 126211479 - CTCT het . 10 +intronic UROC1 chr3 126228678 126228678 G T het . 2 +intronic TXNRD3 chr3 126365127 126365127 - T het . 17 +intronic CHCHD6 chr3 126435873 126435873 G A het . 2 +intronic CHCHD6 chr3 126517457 126517457 - G het . 2 +exonic PLXNA1 chr3 126734160 126734160 C T het . 4 +intergenic PLXNA1(dist=80491),C3orf56(dist=75248) chr3 126836726 126836726 A G het . 1 +intergenic LINC02016(dist=89066),LINC01471(dist=17865) chr3 127198579 127198579 T C het . 1 +ncRNA_intronic LINC01471 chr3 127256010 127256010 C T het . 2 +exonic MCM2 chr3 127339645 127339645 C T het . 6 +intergenic MCM2(dist=2602),PODXL2(dist=4119) chr3 127343880 127343883 GTGT - het . 1 +intergenic MCM2(dist=2624),PODXL2(dist=4100) chr3 127343902 127343902 A G het . 3 +intronic ABTB1 chr3 127396220 127396220 T C het . 2 +intergenic ABTB1(dist=2463),MGLL(dist=5673) chr3 127402232 127402232 - TTTA het . 3 +UTR3 MGLL(NM_007283:c.*126G>A,NM_001256585:c.*126G>A,NM_001003794:c.*126G>A) chr3 127410915 127410915 C T het . 3 +intronic SEC61A1 chr3 127774328 127774328 C A het . 5 +intronic EEFSEC chr3 127889375 127889375 T G het . 2 +exonic DNAJB8 chr3 128181537 128181537 C T het . 17 +ncRNA_intronic GATA2-AS1 chr3 128213528 128213528 - TTG het . 10 +intergenic LOC90246(dist=17664),LINC01565(dist=43745) chr3 128247093 128247098 TTGTTC - het . 4 +intronic ACAD9 chr3 128614075 128614075 - A het . 3 +intronic ACAD9,KIAA1257 chr3 128629505 128629505 - TGAT het . 28 +UTR3 ACAD9(NM_014049:c.*180C>A) chr3 128631630 128631630 C A het . 34 +intronic ISY1-RAB43,RAB43 chr3 128840034 128840034 T C het . 5 +intronic ISY1,ISY1-RAB43 chr3 128859202 128859202 - TTAG het . 20 +intronic ISY1,ISY1-RAB43 chr3 128872728 128872728 C A het . 2 +intronic CNBP chr3 128890402 128890402 G T het . 22 +intronic COPG1 chr3 128968668 128968668 C A het . 8 +intronic COPG1 chr3 128979334 128979334 C A het . 5 +intergenic H1FX-AS1(dist=56659),RPL32P3(dist=1606) chr3 129100071 129100071 C A het . 9 +intronic MBD4 chr3 129152144 129152144 T C het . 21 +intronic MBD4 chr3 129152181 129152181 - T het . 14 +exonic MBD4 chr3 129155548 129155548 T - het . 41 +exonic PLXND1 chr3 129324193 129324193 A G het . 5 +exonic PLXND1 chr3 129324703 129324703 G C het . 16 +intronic TMCC1 chr3 129565609 129565609 A T het . 2 +intergenic TRH(dist=20148),ALG1L2(dist=83742) chr3 129716929 129716932 CTTT - het . 1 +intergenic TRH(dist=24914),ALG1L2(dist=78979) chr3 129721695 129721695 C T het . 7 +intergenic TRH(dist=48107),ALG1L2(dist=55786) chr3 129744888 129744888 A G het . 3 +intergenic TRH(dist=48118),ALG1L2(dist=55775) chr3 129744899 129744899 A G het . 3 +downstream LINC02021(dist=828) chr3 129840240 129840244 TATAA - het . 2 +intronic COL6A5 chr3 130142588 130142588 T - het . 3 +intronic COL6A5 chr3 130195570 130195570 A G het . 9 +intronic COL6A5 chr3 130198263 130198263 - AAAACA het . 5 +intergenic COL6A5(dist=15083),COL6A6(dist=60405) chr3 130218773 130218773 C - het . 2 +intronic COL6A6 chr3 130281373 130281373 T A het . 1 +intronic COL6A6 chr3 130292743 130292743 T C het . 8 +intronic PIK3R4 chr3 130404933 130404933 A - het . 3 +intronic ATP2C1 chr3 130602321 130602322 TC - het . 2 +intronic ATP2C1 chr3 130651188 130651188 C A het . 5 +intronic ATP2C1 chr3 130718640 130718640 C A het . 22 +intronic ASTE1,ATP2C1 chr3 130734887 130734887 - T het . 31 +intronic NEK11 chr3 130852185 130852185 T C het . 17 +intronic NEK11 chr3 130992438 130992438 C A het . 11 +ncRNA_intronic LOC339874 chr3 131056850 131056850 G A het . 2 +intronic CPNE4 chr3 131669520 131669520 C T het . 1 +intronic CPNE4 chr3 131715254 131715254 T A het . 1 +intronic CPNE4 chr3 131727109 131727109 G A het . 1 +intronic ACPP chr3 132048257 132048257 G A het . 2 +intergenic ACPP(dist=19883),DNAJC13(dist=29475) chr3 132107029 132107029 T C het . 10 +intronic DNAJC13 chr3 132169705 132169705 - A het . 7 +intronic DNAJC13 chr3 132196816 132196816 A T het . 12 +intronic DNAJC13 chr3 132221077 132221077 T - het . 3 +ncRNA_intronic NPHP3-ACAD11 chr3 132360390 132360390 - ATG het . 12 +ncRNA_intronic NPHP3-ACAD11 chr3 132395435 132395435 T A het . 9 +ncRNA_intronic NPHP3-ACAD11 chr3 132438748 132438749 AT - het . 9 +ncRNA_intronic NPHP3-AS1 chr3 132514373 132514373 G C het . 2 +ncRNA_intronic NPHP3-AS1 chr3 132520552 132520552 A T het . 1 +ncRNA_intronic NPHP3-AS1 chr3 132543035 132543035 T G het . 1 +intergenic NPHP3-AS1(dist=9838),TMEM108(dist=154239) chr3 132602893 132602893 C T het . 2 +intergenic NPHP3-AS1(dist=11463),TMEM108(dist=152614) chr3 132604518 132604518 T C het . 1 +intronic TMEM108 chr3 133075233 133075233 C T het . 2 +UTR3 TMEM108(NM_001136469:c.*63C>T,NM_023943:c.*63C>T,NM_001282865:c.*63C>T) chr3 133114893 133114893 C T het . 12 +ncRNA_intronic BFSP2-AS1 chr3 133157398 133157398 A - het . 2 +exonic TOPBP1 chr3 133331241 133331241 A G het . 6 +intronic TOPBP1 chr3 133347602 133347602 G T het . 10 +intronic TOPBP1 chr3 133347604 133347604 T C het . 12 +intronic TOPBP1 chr3 133380130 133380130 T C het . 6 +intronic SRPRB chr3 133527733 133527733 - A het . 2 +intronic RAB6B chr3 133556965 133556976 CCGTGCCGGGCC - het . 7 +intronic SLCO2A1 chr3 133687864 133687864 C A het . 2 +intronic AMOTL2 chr3 134085370 134085370 G A het . 2 +intergenic AMOTL2(dist=59080),MIR4788(dist=3330) chr3 134153339 134153339 A G het . 1 +intergenic AMOTL2(dist=59096),MIR4788(dist=3314) chr3 134153355 134153355 G A het . 2 +intronic ANAPC13 chr3 134201781 134201781 C A het . 16 +intronic CEP63 chr3 134266457 134266459 TTT - het . 6 +intronic CEP63 chr3 134277195 134277195 - T het . 28 +intronic EPHB1 chr3 134580987 134580987 G A het . 1 +intronic EPHB1 chr3 134581007 134581007 C T het . 2 +intronic EPHB1 chr3 134706449 134706449 A T het . 1 +intronic EPHB1 chr3 134848863 134848863 G A het . 2 +intronic EPHB1 chr3 134945885 134945885 A G het . 1 +intergenic EPHB1(dist=561077),PPP2R3A(dist=144131) chr3 135540384 135540384 C T het . 3 +exonic PPP2R3A chr3 135720736 135720736 C A het . 23 +intronic PPP2R3A chr3 135774219 135774219 T C het . 21 +intergenic MSL2(dist=11420),PCCB(dist=43059) chr3 135926108 135926108 A C het . 2 +intergenic MSL2(dist=47060),PCCB(dist=7419) chr3 135961748 135961748 C - het . 2 +intronic PCCB chr3 135980673 135980673 C T het . 14 +intronic STAG1 chr3 136137422 136137422 G A het . 5 +intronic STAG1 chr3 136247837 136247837 T C het . 1 +intronic STAG1 chr3 136300732 136300732 A G het . 2 +intergenic IL20RB(dist=347062),SOX14(dist=406146) chr3 137076988 137076988 G A het . 1 +intergenic IL20RB(dist=666653),SOX14(dist=86555) chr3 137396579 137396579 G T het . 3 +intergenic LINC01210(dist=149318),CLDN18(dist=68621) chr3 137649037 137649037 G A het . 2 +intergenic LINC01210(dist=190479),CLDN18(dist=27460) chr3 137690198 137690198 T C het . 2 +intronic CLDN18 chr3 137748979 137748979 T G het . 2 +intronic DZIP1L chr3 137781923 137781923 A C het . 4 +exonic DZIP1L chr3 137787192 137787192 T C het . 2 +intronic DZIP1L chr3 137820611 137820611 G A het . 16 +intergenic A4GNT(dist=25062),DBR1(dist=3539) chr3 137876291 137876291 A T het . 4 +exonic DBR1 chr3 137880743 137880743 G A het . 10 +intronic ARMC8 chr3 137940905 137940905 A G het . 9 +exonic MRAS chr3 138121035 138121037 AGA - het . 22 +intronic CEP70 chr3 138219923 138219923 A G het . 1 +intronic CEP70 chr3 138233904 138233904 G C het . 2 +intronic CEP70 chr3 138248009 138248009 - A het . 10 +intronic CEP70 chr3 138251448 138251452 GGTAT - het . 8 +intronic CEP70 chr3 138263351 138263351 - TGTA het . 2 +exonic PIK3CB chr3 138376532 138376532 C A het . 15 +intronic PIK3CB chr3 138423489 138423489 A - het . 14 +intronic PIK3CB chr3 138446697 138446697 T C het . 2 +intergenic PIK3CB(dist=106735),LINC01391(dist=69095) chr3 138584936 138584936 C A het . 4 +downstream PRR23A(dist=873) chr3 138721931 138721931 G C het . 2 +exonic PRR23B chr3 138739146 138739146 C A het . 20 +intronic COPB2 chr3 139098551 139098551 T A het . 1 +ncRNA_intronic LOC100507291 chr3 139181201 139181201 C A het . 6 +intronic CLSTN2 chr3 139956711 139956711 T C het . 1 +intronic CLSTN2 chr3 139981342 139981346 TTGAA - het . 2 +intronic CLSTN2 chr3 140080290 140080290 T A het . 2 +intergenic TRIM42(dist=3832),SLC25A36(dist=236838) chr3 140423824 140423824 A G het . 2 +UTR5 SPSB4(NM_080862:c.-18T>C) chr3 140784929 140784929 T C het . 3 +intergenic PXYLP1(dist=27953),ZBTB38(dist=1357) chr3 141041698 141041698 A G het . 2 +intronic RASA2 chr3 141246735 141246735 A G het . 2 +ncRNA_intronic LOC646730 chr3 141387546 141387546 G A het . 1 +UTR5 RNF7(NM_014245:c.-70T>G,NM_183237:c.-70T>G,NM_001201370:c.-70T>G) chr3 141457114 141457114 T G het . 6 +UTR5 RNF7(NM_014245:c.-67A>C,NM_183237:c.-67A>C,NM_001201370:c.-67A>C) chr3 141457117 141457117 A C het . 6 +intronic TFDP2 chr3 141682825 141682825 C G het . 14 +intronic GK5 chr3 141892042 141892042 A - het . 8 +intronic GK5 chr3 141906447 141906447 A - het . 10 +intronic GK5 chr3 141923506 141923506 C T het . 26 +intronic GK5 chr3 141932619 141932619 T A het . 3 +intronic GK5 chr3 141934611 141934611 C A het . 10 +intronic XRN1 chr3 142074095 142074095 - A het . 9 +intronic XRN1 chr3 142074103 142074103 G A het . 9 +intronic XRN1 chr3 142074109 142074109 G C het . 8 +intronic XRN1 chr3 142098799 142098799 G A het . 3 +intronic ATR chr3 142212900 142212900 A - het . 3 +intronic ATR chr3 142215178 142215178 A C het . 11 +intronic ATR chr3 142217728 142217728 T - het . 13 +intronic ATR chr3 142234473 142234473 C A het . 14 +intronic ATR chr3 142272314 142272314 G A het . 11 +intronic ATR chr3 142277366 142277369 AAAT - het . 5 +exonic ATR chr3 142277575 142277575 A T het . 20 +intronic PLS1 chr3 142408271 142408271 - ATAA het . 2 +intergenic PCOLCE2(dist=15101),LOC100507389(dist=22371) chr3 142623146 142623146 A - het . 2 +intronic U2SURP chr3 142730774 142730774 T G het . 30 +intronic U2SURP chr3 142742285 142742285 A G het . 2 +intronic U2SURP chr3 142752293 142752293 G A het . 10 +intergenic CHST2(dist=27940),SLC9A9(dist=113268) chr3 142870796 142870796 T G het . 3 +intergenic CHST2(dist=27960),SLC9A9(dist=113248) chr3 142870816 142870816 C T het . 4 +intergenic CHST2(dist=27965),SLC9A9(dist=113243) chr3 142870821 142870821 C T het . 4 +intergenic CHST2(dist=100169),SLC9A9(dist=41039) chr3 142943025 142943025 A G het . 2 +intronic SLC9A9 chr3 143214462 143214462 G A het . 6 +intronic SLC9A9 chr3 143222973 143222973 G T het . 4 +intronic SLC9A9 chr3 143236986 143236986 C T het . 9 +intronic SLC9A9 chr3 143329823 143329823 - A het . 2 +intronic SLC9A9 chr3 143424523 143424523 T C het . 2 +intronic SLC9A9 chr3 143530576 143530576 C T het . 23 +intronic SLC9A9 chr3 143536383 143536383 T G het . 2 +intergenic C3orf58(dist=251769),LNCSRLR(dist=1821152) chr3 143962979 143962979 T - het . 2 +intergenic C3orf58(dist=278581),LNCSRLR(dist=1794340) chr3 143989791 143989791 G C het . 2 +intergenic C3orf58(dist=493712),LNCSRLR(dist=1579209) chr3 144204922 144204922 T C het . 2 +intergenic C3orf58(dist=502387),LNCSRLR(dist=1570534) chr3 144213597 144213597 C G het . 2 +intergenic C3orf58(dist=506871),LNCSRLR(dist=1566050) chr3 144218081 144218081 C G het . 2 +intergenic C3orf58(dist=614762),LNCSRLR(dist=1458159) chr3 144325972 144325972 T C het . 1 +intergenic C3orf58(dist=689217),LNCSRLR(dist=1383703) chr3 144400427 144400428 TG - het . 2 +intergenic C3orf58(dist=699087),LNCSRLR(dist=1373834) chr3 144410297 144410297 T C het . 2 +intergenic C3orf58(dist=1089176),LNCSRLR(dist=983745) chr3 144800386 144800386 A - het . 1 +intergenic C3orf58(dist=1325230),LNCSRLR(dist=747691) chr3 145036440 145036440 T C het . 1 +intergenic C3orf58(dist=1574240),LNCSRLR(dist=498681) chr3 145285450 145285450 T A het . 2 +intergenic C3orf58(dist=1897469),LNCSRLR(dist=175452) chr3 145608679 145608679 C T het . 2 +intergenic C3orf58(dist=1912099),LNCSRLR(dist=160822) chr3 145623309 145623309 - A het . 2 +intergenic C3orf58(dist=2053292),LNCSRLR(dist=19629) chr3 145764502 145764502 T G het . 2 +intronic PLOD2 chr3 145790046 145790046 C T het . 1 +intronic PLOD2 chr3 145790063 145790064 AT - het . 2 +intronic PLOD2 chr3 145790948 145790948 A G het . 13 +intronic PLOD2 chr3 145793029 145793029 G A het . 2 +intronic PLOD2 chr3 145793045 145793045 C G het . 2 +intronic PLOD2 chr3 145795559 145795559 A G het . 7 +intronic PLOD2 chr3 145799355 145799355 G A het . 4 +intronic PLOD2 chr3 145804524 145804524 C A het . 29 +intergenic PLSCR4(dist=102464),PLSCR2(dist=79645) chr3 146071430 146071430 C T het . 3 +intergenic PLSCR4(dist=141461),PLSCR2(dist=40644) chr3 146110427 146110431 TTAAT - het . 2 +intronic PLSCR2 chr3 146167164 146167165 AA - het . 9 +intronic PLSCR5 chr3 146309386 146309386 C A het . 22 +intronic PLSCR5 chr3 146311938 146311938 A - het . 8 +intergenic PLSCR5(dist=55873),LINC02010(dist=259834) chr3 146379876 146379876 T C het . 3 +intergenic PLSCR5(dist=83644),LINC02010(dist=232063) chr3 146407647 146407647 G A het . 1 +intergenic PLSCR5(dist=239531),LINC02010(dist=76176) chr3 146563534 146563534 T - het . 2 +intergenic LINC02010(dist=352043),ZIC4(dist=108787) chr3 146995048 146995048 A - het . 5 +exonic ZIC4 chr3 147114032 147114032 C G het . 18 +intergenic LOC440982(dist=148975),LINC02032(dist=419274) chr3 147376672 147376672 T C het . 2 +intergenic LINC02032(dist=157225),LINC02046(dist=35637) chr3 147963041 147963041 - T het . 5 +intergenic LINC02046(dist=234096),AGTR1(dist=63819) chr3 148351839 148351839 G A het . 3 +intronic CPB1 chr3 148546001 148546001 A G het . 2 +exonic CPB1 chr3 148562365 148562365 C A het . 13 +intronic CPB1 chr3 148562397 148562397 G C het . 10 +intronic CPB1 chr3 148562399 148562399 G A het . 10 +intronic GYG1 chr3 148726933 148726933 G A het . 3 +intronic HLTF chr3 148756761 148756761 T C het . 9 +intronic HLTF chr3 148780854 148780854 - T het . 24 +ncRNA_intronic HLTF-AS1 chr3 148806498 148806498 C T het . 2 +intronic HPS3 chr3 148858988 148858988 T - het . 14 +intronic CP chr3 148901407 148901407 C - het . 9 +intronic CP chr3 148930079 148930079 C A het . 11 +intronic CP chr3 148930096 148930096 T A het . 11 +intronic CP chr3 148930107 148930107 A - het . 7 +intergenic TM4SF1-AS1(dist=19691),TM4SF4(dist=68307) chr3 149124061 149124061 G A het . 5 +intergenic TM4SF1-AS1(dist=71076),TM4SF4(dist=16922) chr3 149175446 149175446 G A het . 2 +intergenic TM4SF4(dist=12557),WWTR1(dist=1278) chr3 149233738 149233738 A G het . 1 +intronic WWTR1 chr3 149347047 149347047 G A het . 2 +downstream ANKUB1(dist=966) chr3 149478260 149478260 C A het . 1 +intronic RNF13 chr3 149589795 149589795 T C het . 15 +intronic PFN2 chr3 149686367 149686368 AC - het . 4 +ncRNA_intronic LOC105374313 chr3 149852271 149852271 T C het . 2 +intergenic LINC01214(dist=14027),TSC22D2(dist=70561) chr3 150055561 150055561 G T het . 4 +intergenic LINC01214(dist=21058),TSC22D2(dist=63530) chr3 150062592 150062592 T G het . 5 +intronic TSC22D2 chr3 150174677 150174677 C A het . 12 +intergenic EIF2A(dist=13298),SELENOT(dist=3949) chr3 150317101 150317101 G A het . 2 +intronic SELENOT chr3 150339161 150339161 T C het . 1 +intergenic SELENOT(dist=16830),ERICH6(dist=12608) chr3 150365064 150365064 A G het . 2 +intronic ERICH6 chr3 150382410 150382410 G A het . 3 +intronic ERICH6 chr3 150382434 150382434 A - het . 2 +intronic ERICH6 chr3 150403420 150403420 T - het . 7 +intronic ERICH6 chr3 150416516 150416516 C A het . 16 +intronic MINDY4B chr3 150603248 150603248 - AAAAGC het . 10 +UTR3 CLRN1(NM_001256819:c.*617_*616delGT,NM_174878:c.*304_*303delGT,NM_001195794:c.*304_*303delGT) chr3 150645419 150645420 AC - het . 8 +intronic MED12L chr3 150910640 150910640 G C het . 1 +intronic GPR87,MED12L chr3 151029832 151029832 - AAC het . 3 +intronic MED12L,P2RY12 chr3 151099741 151099741 A G het . 2 +intronic MED12L chr3 151143354 151143354 - TG het . 4 +UTR3 MED12L(NM_053002:c.*138delA) chr3 151150730 151150730 A - het . 4 +exonic IGSF10 chr3 151155409 151155409 C A het . 25 +exonic IGSF10 chr3 151171439 151171439 A C het . 29 +exonic IGSF10 chr3 151171489 151171489 C T het . 14 +intergenic IGSF10(dist=4827),MIR5186(dist=102340) chr3 151181324 151181324 T G het . 2 +ncRNA_intronic AADACL2-AS1,MIR548H2 chr3 151524738 151524738 C T het . 1 +ncRNA_intronic AADACL2-AS1 chr3 151545318 151545318 A T het . 12 +ncRNA_intronic AADACL2-AS1 chr3 151545322 151545322 T - het . 12 +ncRNA_intronic AADACL2-AS1 chr3 151545323 151545323 T G het . 12 +intergenic AADACL2-AS1(dist=229349),LOC101928166(dist=1941) chr3 151875312 151875312 G A het . 1 +intergenic MBNL1(dist=233655),P2RY1(dist=135258) chr3 152417224 152417224 - ACA het . 4 +intergenic P2RY1(dist=122265),RAP2B(dist=198508) chr3 152681493 152681493 G C het . 6 +intergenic P2RY1(dist=298918),RAP2B(dist=21855) chr3 152858146 152858146 C T het . 5 +ncRNA_intronic LINC02006 chr3 153219952 153219952 T C het . 3 +ncRNA_intronic LINC02006 chr3 153422761 153422761 C G het . 2 +ncRNA_intronic LINC02006 chr3 153422791 153422791 T - het . 3 +intergenic LINC02006(dist=252530),ARHGEF26-AS1(dist=9345) chr3 153732845 153732845 C T het . 2 +intergenic LINC02006(dist=252683),ARHGEF26-AS1(dist=9192) chr3 153732998 153732998 A G het . 2 +intergenic LINC02006(dist=252699),ARHGEF26-AS1(dist=9176) chr3 153733014 153733014 T C het . 2 +intergenic LINC02006(dist=253439),ARHGEF26-AS1(dist=8436) chr3 153733754 153733754 T A het . 2 +downstream ARHGEF26-AS1(dist=41) chr3 153742149 153742149 G A het . 13 +downstream ARHGEF26-AS1(dist=21) chr3 153742168 153742169 AC - het . 5 +ncRNA_intronic ARHGEF26-AS1 chr3 153784698 153784698 G A het . 3 +intronic ARHGEF26 chr3 153842162 153842162 T - het . 9 +intronic DHX36 chr3 154018188 154018188 C A het . 12 +exonic GPR149 chr3 154055892 154055892 C A het . 27 +intronic GPR149 chr3 154091931 154091931 - TTTC het . 4 +intergenic GPR149(dist=560891),MME(dist=33518) chr3 154708395 154708395 A G het . 3 +intronic MME chr3 154856082 154856082 C A het . 27 +intronic MME chr3 154890513 154890514 TT - het . 5 +intergenic DWORF(dist=44059),PLCH1(dist=142123) chr3 155055548 155055548 T C het . 1 +intergenic DWORF(dist=66986),PLCH1(dist=119196) chr3 155078475 155078475 C T het . 2 +intergenic DWORF(dist=109345),PLCH1(dist=76837) chr3 155120834 155120834 T C het . 1 +intergenic DWORF(dist=109350),PLCH1(dist=76832) chr3 155120839 155120839 T C het . 1 +intergenic DWORF(dist=158408),PLCH1(dist=27774) chr3 155169897 155169897 G T het . 3 +intronic PLCH1 chr3 155271825 155271825 G A het . 4 +intronic C3orf33 chr3 155500128 155500128 A - het . 2 +exonic GMPS chr3 155649563 155649563 C A het . 15 +intronic GMPS chr3 155654017 155654017 C T het . 3 +intergenic GMPS(dist=11221),KCNAB1(dist=171596) chr3 155666741 155666741 G C het . 2 +intergenic GMPS(dist=38586),KCNAB1(dist=144231) chr3 155694106 155694106 A G het . 3 +intergenic GMPS(dist=93174),KCNAB1(dist=89643) chr3 155748694 155748694 A G het . 2 +intergenic GMPS(dist=151636),KCNAB1(dist=31181) chr3 155807156 155807156 - A het . 2 +intronic KCNAB1 chr3 155885702 155885702 G A het . 1 +intronic KCNAB1 chr3 156004235 156004235 T A het . 1 +intronic KCNAB1 chr3 156139481 156139481 T G het . 6 +intergenic SSR3(dist=87868),TIPARP-AS1(dist=30103) chr3 156360857 156360857 A G het . 2 +intergenic SSR3(dist=108129),TIPARP-AS1(dist=9842) chr3 156381118 156381118 C T het . 2 +intergenic TIPARP(dist=34114),LINC00886(dist=6461) chr3 156458671 156458671 G A het . 1 +intergenic TIPARP(dist=36722),LINC00886(dist=3853) chr3 156461279 156461279 G A het . 2 +intronic LEKR1 chr3 156639036 156639036 G A het . 1 +intronic LEKR1 chr3 156695011 156695011 A G het . 2 +intronic LEKR1 chr3 156742390 156742390 G A het . 13 +intronic LEKR1 chr3 156742775 156742775 C T het . 14 +intronic LEKR1 chr3 156742804 156742804 C T het . 6 +intronic VEPH1 chr3 157132577 157132577 C T het . 2 +intergenic VEPH1(dist=14807),PQLC2L(dist=24911) chr3 157236222 157236222 T G het . 2 +intronic PQLC2L chr3 157267725 157267725 G A het . 1 +intronic PQLC2L chr3 157311090 157311090 - T het . 2 +intergenic PQLC2L(dist=8544),SHOX2(dist=486235) chr3 157327565 157327565 T C het . 2 +intergenic PQLC2L(dist=381687),SHOX2(dist=113092) chr3 157700708 157700708 G A het . 2 +intronic RSRC1 chr3 157839004 157839004 G A het . 3 +intronic RSRC1 chr3 158107097 158107097 A T het . 2 +intronic RSRC1 chr3 158144264 158144264 C T het . 1 +intronic MLF1 chr3 158308949 158308949 T - het . 11 +exonic GFM1 chr3 158366861 158366861 C T het . 28 +UTR3 GFM1(NM_001308166:c.*41C>A) chr3 158399999 158399999 C A het . 29 +intronic GFM1 chr3 158407931 158407933 TTT - het . 23 +exonic RARRES1 chr3 158450151 158450151 C T het . 5 +exonic RARRES1 chr3 158450169 158450169 C G het . 10 +exonic RARRES1 chr3 158450178 158450178 A G het . 14 +intergenic RARRES1(dist=50018),MFSD1(dist=19422) chr3 158500293 158500293 T - het . 2 +intergenic MFSD1(dist=225384),IQCJ-SCHIP1(dist=14149) chr3 158772892 158772892 G A het . 2 +intronic IQCJ,IQCJ-SCHIP1 chr3 158800137 158800137 - T het . 2 +ncRNA_intronic IL12A-AS1 chr3 159736932 159736932 T C het . 18 +ncRNA_intronic IL12A-AS1 chr3 159820310 159820310 G A het . 13 +ncRNA_intronic TRIM59-IFT80 chr3 160074767 160074767 A G het . 2 +exonic IFT80 chr3 160099509 160099509 T C het . 29 +ncRNA_intronic TRIM59-IFT80 chr3 160129913 160129913 C A het . 16 +ncRNA_intronic TRIM59-IFT80 chr3 160141147 160141147 G T het . 11 +ncRNA_intronic TRIM59-IFT80 chr3 160141671 160141671 A T het . 11 +exonic SMC4 chr3 160150141 160150141 C A het . 30 +exonic SMC4 chr3 160150847 160150847 C A het . 17 +intronic KPNA4 chr3 160243705 160243705 T - het . 10 +intronic KPNA4 chr3 160282965 160282965 A C het . 14 +intronic KPNA4 chr3 160282967 160282967 A C het . 15 +intronic KPNA4 chr3 160282974 160282974 A C het . 18 +UTR5 ARL14(NM_025047:c.-45del-) chr3 160395090 160395090 A - het . 10 +UTR5 ARL14(NM_025047:c.-42A>G) chr3 160395093 160395093 A G het . 10 +intronic PPM1L chr3 160491722 160491722 T A het . 3 +intronic PPM1L chr3 160560294 160560294 T G het . 3 +intronic PPM1L chr3 160657297 160657297 C T het . 1 +intronic PPM1L chr3 160740016 160740016 A C het . 14 +exonic B3GALNT1 chr3 160803912 160803912 C A het . 15 +intronic NMD3 chr3 160955879 160955879 G T het . 23 +intronic NMD3 chr3 160955883 160955884 TT - het . 19 +ncRNA_intronic LINC02067 chr3 161146760 161146760 A G het . 5 +intergenic OTOL1(dist=424841),LINC01192(dist=1248460) chr3 161646571 161646571 G A het . 1 +intergenic OTOL1(dist=424846),LINC01192(dist=1248455) chr3 161646576 161646576 C T het . 1 +intergenic OTOL1(dist=689189),LINC01192(dist=984112) chr3 161910919 161910919 A G het . 2 +intergenic OTOL1(dist=824615),LINC01192(dist=848686) chr3 162046345 162046345 A G het . 1 +intergenic OTOL1(dist=930628),LINC01192(dist=742673) chr3 162152358 162152358 A G het . 1 +intergenic OTOL1(dist=1097663),LINC01192(dist=575638) chr3 162319393 162319393 A G het . 3 +intergenic OTOL1(dist=1193795),LINC01192(dist=479506) chr3 162415525 162415525 T A het . 2 +intergenic OTOL1(dist=1244529),LINC01192(dist=428772) chr3 162466259 162466259 - TATG het . 2 +intergenic OTOL1(dist=1263705),LINC01192(dist=409596) chr3 162485435 162485435 C A het . 1 +intergenic OTOL1(dist=1347388),LINC01192(dist=325913) chr3 162569118 162569118 A T het . 2 +intergenic OTOL1(dist=1351107),LINC01192(dist=322194) chr3 162572837 162572837 C A het . 2 +intergenic OTOL1(dist=1562001),LINC01192(dist=111300) chr3 162783731 162783731 - C het . 2 +intergenic OTOL1(dist=1612144),LINC01192(dist=61157) chr3 162833874 162833874 C A het . 3 +intergenic OTOL1(dist=1621783),LINC01192(dist=51518) chr3 162843513 162843513 T C het . 1 +intergenic OTOL1(dist=1624137),LINC01192(dist=49164) chr3 162845867 162845867 A T het . 3 +intergenic OTOL1(dist=1638954),LINC01192(dist=34347) chr3 162860684 162860684 C T het . 1 +ncRNA_intronic LINC01192 chr3 162937186 162937186 - A het . 2 +intergenic LINC01192(dist=200970),MIR1263(dist=667200) chr3 163222059 163222059 - A het . 2 +intergenic LINC01192(dist=250346),MIR1263(dist=617824) chr3 163271435 163271435 A T het . 2 +intergenic LINC01192(dist=315186),MIR1263(dist=552984) chr3 163336275 163336275 - TTTC het . 2 +intergenic LINC01192(dist=321723),MIR1263(dist=546447) chr3 163342812 163342812 A C het . 2 +intergenic LINC01192(dist=664810),MIR1263(dist=203360) chr3 163685899 163685899 T C het . 2 +intergenic LINC01192(dist=688971),MIR1263(dist=179199) chr3 163710060 163710060 T C het . 2 +intergenic LINC01192(dist=689256),MIR1263(dist=178914) chr3 163710345 163710345 T A het . 4 +intergenic LINC01192(dist=726825),MIR1263(dist=141345) chr3 163747914 163747914 C T het . 2 +intergenic LINC01192(dist=748847),MIR1263(dist=119322) chr3 163769936 163769937 AA GG het . 2 +intergenic MIR1263(dist=215142),LINC01324(dist=327395) chr3 164104486 164104488 AAA - het . 2 +intergenic MIR1263(dist=215704),LINC01324(dist=326835) chr3 164105048 164105048 A G het . 1 +intergenic MIR1263(dist=456043),LINC01324(dist=86496) chr3 164345387 164345387 C G het . 2 +ncRNA_intronic LINC01324 chr3 164515528 164515528 C T het . 1 +intergenic LINC01324(dist=74783),SI(dist=72635) chr3 164624051 164624051 C - het . 2 +intronic SI chr3 164748666 164748666 A - het . 15 +exonic SI chr3 164754197 164754197 C T het . 34 +intronic SI chr3 164756345 164756345 - A het . 2 +intronic SI chr3 164777867 164777867 C A het . 20 +intronic SI chr3 164783260 164783260 T G het . 10 +exonic SLITRK3 chr3 164906479 164906479 C A het . 13 +intergenic BCHE(dist=410481),LOC105374194(dist=650727) chr3 165965741 165965744 AAAA - het . 2 +intergenic BCHE(dist=487430),LOC105374194(dist=573781) chr3 166042690 166042690 T A het . 1 +intergenic BCHE(dist=534139),LOC105374194(dist=527072) chr3 166089399 166089399 - TCTA het . 3 +intergenic BCHE(dist=534143),LOC105374194(dist=527068) chr3 166089403 166089403 A C het . 3 +intergenic BCHE(dist=917376),LOC105374194(dist=143835) chr3 166472636 166472636 A - het . 2 +intergenic BCHE(dist=917379),LOC105374194(dist=143832) chr3 166472639 166472639 A C het . 2 +intergenic BCHE(dist=960855),LOC105374194(dist=100352) chr3 166516115 166516119 TTTTA - het . 2 +intergenic BCHE(dist=992912),LOC105374194(dist=68299) chr3 166548172 166548172 A G het . 2 +intergenic LOC105374194(dist=64787),ZBBX(dist=243678) chr3 166714399 166714399 A C het . 2 +intronic ZBBX chr3 166966327 166966327 C A het . 10 +intronic ZBBX chr3 166979995 166979995 G - het . 2 +intronic ZBBX chr3 167048579 167048581 AAG - het . 3 +ncRNA_intronic LINC01327 chr3 167120076 167120076 G A het . 2 +intronic WDR49 chr3 167339549 167339549 A G het . 5 +intronic PDCD10 chr3 167402273 167402273 A - het . 10 +intronic SERPINI1 chr3 167510214 167510214 A G het . 9 +intronic GOLIM4 chr3 167762679 167762679 A - het . 12 +intergenic GOLIM4(dist=65764),EGFEM1P(dist=87833) chr3 167879477 167879477 - A het . 2 +ncRNA_intronic EGFEM1P chr3 168269865 168269865 A - het . 7 +UTR5 MECOM(NM_001164000:c.-15285A>T) chr3 168864550 168864550 T A het . 3 +intronic MECOM chr3 168940919 168940919 T - het . 2 +intronic MECOM chr3 169324222 169324222 T A het . 1 +intergenic MECOM(dist=81448),TERC(dist=19373) chr3 169463011 169463025 GTTTTTTTTTGTTTT - het . 2 +intronic MYNN chr3 169501505 169501505 - T het . 24 +intronic MYNN chr3 169502180 169502180 T C het . 4 +upstream LRRIQ4(dist=30) chr3 169539649 169539649 T A het . 2 +exonic LRRC31 chr3 169557919 169557919 G A het . 18 +intronic SEC62 chr3 169687034 169687034 A - het . 19 +intronic PHC3 chr3 169868488 169868488 G A het . 10 +intronic PHC3 chr3 169889439 169889439 C A het . 2 +intergenic PRKCI(dist=6265),SKIL(dist=45438) chr3 170030035 170030035 G A het . 2 +intergenic PRKCI(dist=50604),SKIL(dist=1099) chr3 170074374 170074374 C A het . 2 +intronic SKIL chr3 170099219 170099222 TTAT - het . 6 +exonic SLC7A14 chr3 170184933 170184933 C T het . 24 +UTR3 RPL22L1(NM_001099645:c.*105T>G,NM_001320451:c.*105T>G) chr3 170584064 170584064 A C het . 3 +UTR3 RPL22L1(NM_001099645:c.*95T>C,NM_001320451:c.*95T>C) chr3 170584074 170584074 A G het . 3 +intronic RPL22L1 chr3 170585617 170585617 A G het . 2 +UTR3 SLC2A2(NM_001278658:c.*8delA,NM_001278659:c.*8delA,NM_000340:c.*8delA) chr3 170715684 170715684 T - het . 28 +intronic SLC2A2 chr3 170732599 170732599 G A het . 9 +intronic TNIK chr3 171065011 171065011 A - het . 13 +intronic TNIK chr3 171065031 171065031 G C het . 13 +intronic TNIK chr3 171123926 171123926 T C het . 2 +intergenic TNIK(dist=25208),PLD1(dist=114790) chr3 171203405 171203405 T A het . 2 +intergenic TNIK(dist=85086),PLD1(dist=54912) chr3 171263283 171263283 T C het . 2 +intergenic TMEM212-AS1(dist=11119),FNDC3B(dist=127769) chr3 171629649 171629649 G T het . 1 +intergenic TMEM212-AS1(dist=12394),FNDC3B(dist=126494) chr3 171630924 171630924 G A het . 3 +upstream FNDC3B(dist=506) chr3 171756912 171756912 A G het . 2 +upstream FNDC3B(dist=498) chr3 171756920 171756920 A - het . 2 +upstream FNDC3B(dist=495) chr3 171756923 171756923 A C het . 2 +exonic FNDC3B chr3 172062001 172062001 C T het . 8 +intronic FNDC3B chr3 172064091 172064091 G A het . 3 +intergenic GHSR(dist=50360),TNFSF10(dist=6692) chr3 172216606 172216606 - AAAC het . 6 +intronic TNFSF10 chr3 172233002 172233002 T G het . 4 +intronic NCEH1 chr3 172368083 172368083 A G het . 2 +intronic NCEH1 chr3 172416535 172416535 T C het . 1 +upstream NCEH1(dist=125) chr3 172429133 172429133 G A het . 2 +intronic ECT2 chr3 172501953 172501953 C T het . 2 +intronic NLGN1 chr3 173415824 173415825 AA - het . 2 +intronic NLGN1 chr3 173518320 173518320 A C het . 4 +intronic NLGN1 chr3 173570187 173570187 T A het . 2 +intronic NLGN1 chr3 173651626 173651626 A C het . 1 +intronic NLGN1 chr3 173738817 173738817 A C het . 1 +intronic NLGN1 chr3 173834115 173834115 G T het . 7 +intergenic NLGN1(dist=27906),NAALADL2(dist=548066) chr3 174029045 174029045 A G het . 1 +intergenic NLGN1(dist=277375),NAALADL2(dist=298597) chr3 174278514 174278514 C T het . 2 +intronic NAALADL2 chr3 174914575 174914575 A G het . 2 +intronic NAALADL2 chr3 175018529 175018529 - ATTT het . 3 +intronic NAALADL2 chr3 175043706 175043706 T C het . 1 +exonic NAALADL2 chr3 175165079 175165079 C T het . 19 +intronic NAALADL2 chr3 175189260 175189260 C G het . 8 +intronic NAALADL2 chr3 175189290 175189291 AA - het . 6 +intronic NAALADL2 chr3 175189407 175189407 T - het . 13 +intronic NAALADL2 chr3 175189417 175189417 G A het . 17 +exonic NAALADL2 chr3 175189447 175189447 G A het . 18 +intronic NAALADL2 chr3 175198453 175198453 G A het . 1 +intronic NAALADL2 chr3 175205248 175205248 A T het . 9 +intronic NAALADL2 chr3 175205251 175205251 A T het . 9 +intergenic NAALADL2(dist=103722),MIR7977(dist=605741) chr3 175627150 175627150 A G het . 3 +intergenic NAALADL2(dist=136704),MIR7977(dist=572759) chr3 175660132 175660132 A G het . 3 +intergenic NAALADL2(dist=136725),MIR7977(dist=572738) chr3 175660153 175660153 T A het . 3 +intergenic NAALADL2(dist=137395),MIR7977(dist=572068) chr3 175660823 175660823 C T het . 1 +intergenic NAALADL2(dist=150002),MIR7977(dist=559461) chr3 175673430 175673430 A G het . 2 +intergenic NAALADL2(dist=169066),MIR7977(dist=540397) chr3 175692494 175692494 C T het . 2 +intergenic NAALADL2(dist=263055),MIR7977(dist=446408) chr3 175786483 175786483 C T het . 5 +intergenic NAALADL2(dist=411611),MIR7977(dist=297852) chr3 175935039 175935039 A - het . 2 +intergenic MIR7977(dist=81243),LINC01208(dist=7754) chr3 176314182 176314182 A - het . 3 +intronic TBL1XR1 chr3 176768249 176768249 C A het . 11 +intergenic TBL1XR1(dist=5446),LINC00501(dist=91670) chr3 176920560 176920560 G A het . 2 +ncRNA_intronic LINC00501 chr3 177015339 177015339 T G het . 14 +ncRNA_intronic LINC00578 chr3 177416388 177416388 A C het . 2 +intergenic LINC02015(dist=21974),LINC01014(dist=498003) chr3 177638986 177638986 G T het . 3 +ncRNA_intronic KCNMB2-AS1 chr3 178484054 178484054 G A het . 1 +exonic PIK3CA chr3 178917663 178917663 C A het . 22 +intronic MFN1 chr3 179096007 179096007 A - het . 15 +intronic MFN1 chr3 179096024 179096024 C A het . 16 +intronic MFN1 chr3 179109735 179109735 A G het . 20 +intronic ACTL6A chr3 179291309 179291309 T - het . 10 +intronic NDUFB5 chr3 179333754 179333755 TT - het . 29 +intronic USP13 chr3 179371332 179371332 G C het . 3 +intronic USP13 chr3 179399570 179399570 C T het . 3 +intronic USP13 chr3 179448067 179448067 T - het . 12 +intronic PEX5L chr3 179588891 179588891 T C het . 1 +intronic PEX5L chr3 179593072 179593072 T A het . 5 +intronic PEX5L chr3 179609181 179609181 G T het . 2 +intronic CCDC39 chr3 180351158 180351158 A G het . 2 +intergenic CCDC39(dist=4126),LOC101928882(dist=23975) chr3 180401403 180401403 G T het . 1 +intergenic CCDC39(dist=4149),LOC101928882(dist=23952) chr3 180401426 180401426 T A het . 2 +ncRNA_exonic LOC101928882 chr3 180466073 180466073 A G het . 22 +intronic FXR1 chr3 180651193 180651193 C A het . 20 +intronic DNAJC19 chr3 180706141 180706141 C T het . 2 +intergenic DNAJC19(dist=16829),SOX2-OT(dist=50077) chr3 180724391 180724391 C A het . 2 +ncRNA_intronic SOX2-OT chr3 181237523 181237523 C T het . 2 +ncRNA_intronic SOX2-OT chr3 181372267 181372268 TA - het . 2 +intronic ATP11B chr3 182576923 182576923 T A het . 16 +intergenic ATP11B(dist=12557),DCUN1D1(dist=3968) chr3 182651978 182651978 G A het . 2 +intronic DCUN1D1 chr3 182673196 182673196 C T het . 13 +intronic DCUN1D1 chr3 182681853 182681853 T C het . 6 +UTR3 MCCC1(NM_020166:c.*40T>C,NM_001363880:c.*40T>C,NM_001293273:c.*40T>C) chr3 182733186 182733186 A G het . 22 +intronic MCCC1 chr3 182779943 182779943 A G het . 2 +intronic MCCC1 chr3 182805996 182805996 - T het . 1 +intronic MCCC1 chr3 182805998 182805998 G T het . 1 +UTR5 MCCC1(NM_020166:c.-100G>C,NM_001363880:c.-12806G>C,NM_001293273:c.-4938G>C) chr3 182817328 182817328 C G het . 8 +intronic LAMP3 chr3 182852374 182852374 T G het . 1 +intronic LAMP3 chr3 182870981 182870981 G A het . 2 +intergenic LAMP3(dist=14006),MCF2L2(dist=1119) chr3 182894673 182894673 A C het . 2 +intronic MCF2L2 chr3 183028331 183028331 A G het . 2 +intronic MCF2L2 chr3 183094705 183094705 A T het . 1 +intronic MCF2L2 chr3 183094709 183094709 G T het . 1 +intronic MCF2L2 chr3 183094718 183094718 C A het . 2 +intronic YEATS2 chr3 183476487 183476487 - AG het . 8 +intronic YEATS2 chr3 183476490 183476490 A T het . 8 +intronic YEATS2 chr3 183521771 183521771 T A het . 16 +ncRNA_exonic YEATS2-AS1 chr3 183524948 183524948 T C het . 6 +intronic ABCC5 chr3 183643629 183643631 TTT - het . 2 +intronic ABCC5 chr3 183663824 183663824 C A het . 11 +intronic ABCC5 chr3 183663833 183663833 T C het . 8 +intronic ABCC5 chr3 183664873 183664873 C T het . 1 +intergenic ABCC5(dist=1750),HTR3D(dist=11834) chr3 183737498 183737498 A G het . 1 +intergenic ABCC5(dist=3989),HTR3D(dist=9595) chr3 183739737 183739737 - TTTG het . 2 +intronic HTR3D chr3 183753182 183753182 G C het . 5 +UTR3 HTR3D(NM_182537:c.*45G>A,NM_001145143:c.*45G>A,NM_001163646:c.*45G>A) chr3 183756808 183756808 G A het . 6 +UTR3 HTR3D(NM_182537:c.*73_*74insT,NM_001145143:c.*73_*74insT,NM_001163646:c.*73_*74insT) chr3 183756836 183756836 - T het . 6 +UTR3 HTR3D(NM_182537:c.*74_*75insTCAGTCCAAATT,NM_001145143:c.*74_*75insTCAGTCCAAATT,NM_001163646:c.*74_*75insTCAGTCCAAATT) chr3 183756837 183756837 - TCAGTCCAAATT het . 6 +intronic HTR3C chr3 183777919 183777919 G A het . 3 +intronic EIF2B5 chr3 183857834 183857834 C A het . 15 +exonic EEF1AKMT4 chr3 183976108 183976108 T C het . 2 +UTR3 ECE2(NM_001100120:c.*22G>C,NM_001100121:c.*22G>C,NM_001037324:c.*22G>C),EEF1AKMT4-ECE2(NM_014693:c.*22G>C) chr3 184010048 184010048 G C het . 3 +intronic PSMD2 chr3 184025326 184025326 C A het . 20 +intronic PSMD2 chr3 184025335 184025335 G C het . 20 +UTR3 PSMD2(NM_002808:c.*25C>T,NM_001278708:c.*25C>T,NM_001278709:c.*25C>T) chr3 184026703 184026703 C T het . 5 +UTR3 PSMD2(NM_002808:c.*45C>A,NM_001278708:c.*45C>A,NM_001278709:c.*45C>A) chr3 184026723 184026723 C A het . 6 +intronic EIF4G1 chr3 184033346 184033346 T A het . 8 +exonic EIF4G1 chr3 184039767 184039775 AGGAGAAGC - het . 19 +exonic EIF4G1 chr3 184041271 184041271 A C het . 24 +intronic EIF4G1 chr3 184042663 184042663 C T het . 37 +intronic CHRD chr3 184101242 184101242 T G het . 7 +intronic CHRD chr3 184101247 184101247 T G het . 7 +exonic MAGEF1 chr3 184429133 184429133 - TCC het . 16 +intronic VPS8 chr3 184573473 184573473 T - het . 10 +intronic VPS8 chr3 184583828 184583828 A G het . 2 +intronic VPS8 chr3 184612320 184612321 AC - het . 5 +intronic VPS8 chr3 184658058 184658058 - TATATA het . 13 +intronic VPS8 chr3 184684313 184684313 G A het . 3 +intronic VPS8 chr3 184717471 184717471 C A het . 19 +intronic VPS8 chr3 184722770 184722771 TA - het . 2 +intronic VPS8 chr3 184766148 184766148 A G het . 3 +intronic MAP3K13 chr3 185017867 185017867 C T het . 4 +intronic MAP3K13 chr3 185159798 185159798 G T het . 2 +intronic MAP3K13 chr3 185183418 185183418 G C het . 4 +exonic TMEM41A chr3 185214664 185214664 G A het . 35 +intronic LIPH chr3 185244418 185244418 T A het . 1 +intronic LIPH chr3 185244425 185244425 - ATA het . 1 +intronic SENP2 chr3 185330959 185330959 C G het . 5 +intronic DGKG chr3 185963753 185963753 C A het . 2 +UTR5 DGKG(NM_001346:c.-73G>T,NM_001080745:c.-73G>T,NM_001080744:c.-73G>T) chr3 186038321 186038321 C A het . 11 +intergenic DGKG(dist=11661),LINC02020(dist=66450) chr3 186091684 186091684 C T het . 1 +intergenic DGKG(dist=39942),LINC02020(dist=38169) chr3 186119965 186119965 T G het . 1 +ncRNA_intronic LINC02052 chr3 186207417 186207417 A G het . 1 +exonic AHSG chr3 186338425 186338425 A C het . 5 +intronic HRG chr3 186386664 186386664 - A het . 5 +intronic HRG chr3 186386713 186386713 G T het . 13 +intronic HRG chr3 186394556 186394556 C T het . 3 +exonic HRG chr3 186394982 186394982 A C het . 21 +intergenic HRG(dist=37687),KNG1(dist=1382) chr3 186433716 186433716 A G het . 1 +intronic KNG1 chr3 186435583 186435583 T C het . 15 +intronic KNG1 chr3 186435591 186435591 - CA het . 12 +intergenic KNG1(dist=5654),EIF4A2(dist=33508) chr3 186467853 186467853 A - het . 3 +intergenic KNG1(dist=16920),EIF4A2(dist=22242) chr3 186479119 186479119 T C het . 13 +intronic ADIPOQ chr3 186567702 186567702 - A het . 2 +intronic ADIPOQ chr3 186569659 186569665 ACTTGAG - het . 2 +intronic ST6GAL1 chr3 186654766 186654766 A G het . 2 +intronic ST6GAL1 chr3 186654824 186654824 C T het . 3 +intronic ST6GAL1 chr3 186654826 186654826 C A het . 3 +intronic ST6GAL1 chr3 186654836 186654836 G A het . 3 +intronic ST6GAL1 chr3 186703562 186703562 - A het . 2 +intergenic RPL39L(dist=34802),LOC101929106(dist=22765) chr3 186892113 186892113 C T het . 2 +UTR3 MASP1(NM_139125:c.*1437delT) chr3 186952035 186952035 A - het . 23 +UTR3 MASP1(NM_139125:c.*1434_*1435insC) chr3 186952037 186952037 - G het . 24 +intergenic LOC101929130(dist=23775),RTP4(dist=46672) chr3 187039496 187039496 C A het . 2 +exonic RTP4 chr3 187088656 187088656 C T het . 13 +intergenic LINC02041(dist=50632),SST(dist=168325) chr3 187218369 187218369 C A het . 1 +intergenic LINC02041(dist=139641),SST(dist=79316) chr3 187307378 187307378 A - het . 2 +intergenic BCL6(dist=100268),LINC01991(dist=112782) chr3 187563781 187563781 T - het . 2 +intronic LPP chr3 187871975 187871975 - GCC het . 3 +intronic LPP chr3 187894272 187894272 A G het . 1 +intronic LPP chr3 188383234 188383235 TT - het . 2 +intronic LPP chr3 188383237 188383237 T - het . 2 +intronic LPP chr3 188426021 188426021 G T het . 11 +exonic LPP chr3 188426084 188426084 G A het . 21 +intronic LPP chr3 188439137 188439137 G C het . 2 +intronic LPP chr3 188464174 188464174 T C het . 7 +intronic LPP chr3 188590358 188590358 C T het . 3 +intergenic TPRG1-AS1(dist=83690),TPRG1(dist=140645) chr3 188749118 188749118 C T het . 2 +intergenic TPRG1(dist=47186),TP63(dist=226078) chr3 189088457 189088457 G C het . 2 +intronic TP63 chr3 189378640 189378640 - G het . 1 +intronic TP63 chr3 189415719 189415719 C T het . 2 +intronic TP63 chr3 189586030 189586030 T G het . 3 +intronic TP63 chr3 189587080 189587080 C T het . 35 +intronic TP63 chr3 189587091 189587091 A G het . 33 +intronic TP63 chr3 189590824 189590825 GG CA het . 19 +intronic P3H2 chr3 189702200 189702200 T C het . 10 +intronic P3H2 chr3 189702396 189702396 A - het . 23 +intronic P3H2 chr3 189709861 189709861 G T het . 2 +intronic P3H2 chr3 189745997 189745997 C T het . 2 +intronic P3H2 chr3 189763772 189763772 C T het . 1 +intergenic P3H2-AS1(dist=12355),CLDN1(dist=148500) chr3 189874990 189874990 A C het . 1 +intergenic P3H2-AS1(dist=95297),CLDN1(dist=65558) chr3 189957932 189957932 G T het . 2 +intergenic CLDN1(dist=12578),CLDN16(dist=52840) chr3 190052813 190052821 TTTTTTTTT - het . 5 +intergenic CLDN1(dist=12611),CLDN16(dist=52815) chr3 190052846 190052846 C T het . 4 +intergenic CLDN1(dist=25877),CLDN16(dist=39549) chr3 190066112 190066112 A G het . 1 +intronic CLDN16 chr3 190127476 190127476 T - het . 7 +intergenic TMEM207(dist=33894),IL1RAP(dist=30281) chr3 190201559 190201559 G A het . 3 +intergenic IL1RAP(dist=134748),GMNC(dist=58239) chr3 190512287 190512287 G C het . 1 +intergenic IL1RAP(dist=156239),GMNC(dist=36748) chr3 190533778 190533778 A C het . 2 +intergenic IL1RAP(dist=172124),GMNC(dist=20863) chr3 190549663 190549663 - AG het . 33 +ncRNA_intronic OSTN-AS1 chr3 190932249 190932249 A G het . 2 +UTR3 OSTN(NM_198184:c.*1226T>G) chr3 190981868 190981868 T G het . 1 +intronic UTS2B chr3 191007240 191007243 AAAC - het . 5 +intronic UTS2B chr3 191007247 191007247 C T het . 5 +exonic CCDC50 chr3 191075902 191075902 C T het . 22 +intronic CCDC50 chr3 191087439 191087439 C A het . 2 +intronic CCDC50 chr3 191087477 191087477 G A het . 2 +UTR3 CCDC50(NM_178335:c.*812C>T,NM_174908:c.*812C>T) chr3 191110361 191110361 C T het . 2 +ncRNA_intronic LINCR-0002 chr3 191187491 191187491 A G het . 2 +ncRNA_intronic LINCR-0002 chr3 191187509 191187509 A T het . 2 +intergenic LINCR-0002(dist=390404),FGF12(dist=158633) chr3 191698549 191698549 G A het . 1 +intergenic LINCR-0002(dist=430010),FGF12(dist=119027) chr3 191738155 191738155 G A het . 1 +intronic FGF12 chr3 191873224 191873224 T C het . 2 +intronic FGF12 chr3 191888452 191888452 - A het . 5 +intronic FGF12 chr3 192093629 192093629 - A het . 3 +intronic FGF12 chr3 192093637 192093637 T A het . 3 +intronic FGF12 chr3 192213396 192213396 T G het . 2 +intronic FGF12 chr3 192351054 192351054 T C het . 2 +intronic FGF12 chr3 192358585 192358592 TTTGTTTG - het . 2 +intronic FGF12 chr3 192378779 192378779 - T het . 2 +intronic FGF12 chr3 192378781 192378781 - T het . 2 +intronic MB21D2 chr3 192538725 192538725 A T het . 2 +intronic MB21D2 chr3 192626528 192626528 C G het . 1 +intronic ATP13A5 chr3 193017063 193017063 C T het . 16 +intronic ATP13A5 chr3 193080344 193080344 C T het . 18 +intronic ATP13A5 chr3 193081206 193081206 G A het . 7 +intronic ATP13A5 chr3 193081830 193081830 A G het . 2 +intronic ATP13A5 chr3 193081866 193081866 T A het . 2 +intronic ATP13A5 chr3 193090255 193090255 C T het . 2 +intronic ATP13A5 chr3 193090260 193090260 T C het . 2 +intergenic ATP13A5(dist=1418),ATP13A4(dist=18706) chr3 193098050 193098050 T C het . 2 +intronic ATP13A4 chr3 193156149 193156149 A G het . 12 +intronic OPA1 chr3 193313987 193313989 TTT - het . 3 +intronic OPA1 chr3 193314014 193314014 A T het . 4 +intronic OPA1 chr3 193361107 193361107 T A het . 20 +intergenic OPA1(dist=31810),LINC02038(dist=111207) chr3 193447410 193447410 T C het . 2 +intergenic OPA1(dist=31859),LINC02038(dist=111158) chr3 193447459 193447459 C T het . 2 +intergenic LINC02038(dist=97288),LINC02026(dist=16075) chr3 193659086 193659086 C A het . 2 +upstream LINC02028(dist=757) chr3 193789516 193789516 C T het . 2 +intergenic HES1(dist=14741),LINC02036(dist=49663) chr3 193871142 193871142 G A het . 3 +intergenic HES1(dist=53534),LINC02036(dist=10870) chr3 193909935 193909935 T C het . 1 +ncRNA_intronic LINC02037 chr3 193972664 193972664 G T het . 2 +ncRNA_intronic LINC02037 chr3 193972678 193972678 T A het . 1 +ncRNA_intronic LINC02037 chr3 193972680 193972680 A - het . 1 +intronic ATP13A3 chr3 194174220 194174220 C T het . 2 +intergenic LINC00884(dist=15359),TMEM44-AS1(dist=80361) chr3 194224633 194224636 TGTT - het . 2 +intergenic LINC00884(dist=15363),TMEM44-AS1(dist=80360) chr3 194224637 194224637 - AC het . 2 +intergenic LINC00884(dist=39430),TMEM44-AS1(dist=56293) chr3 194248704 194248704 T C het . 4 +intergenic LINC00884(dist=39454),TMEM44-AS1(dist=56269) chr3 194248728 194248728 G C het . 7 +intronic TMEM44 chr3 194331875 194331875 A T het . 7 +intronic TMEM44 chr3 194344526 194344526 G C het . 3 +intronic TMEM44 chr3 194353772 194353772 - CCGCCCGACAG het . 11 +intergenic TMEM44(dist=5540),LSG1(dist=1827) chr3 194359690 194359690 T - het . 4 +intergenic TMEM44(dist=5557),LSG1(dist=1807) chr3 194359707 194359710 CAAA - het . 3 +intronic LSG1 chr3 194379567 194379567 A G het . 4 +intronic LSG1 chr3 194379596 194379596 C A het . 4 +ncRNA_intronic LINC01968 chr3 194455295 194455295 G - het . 5 +ncRNA_intronic LINC01968 chr3 194455308 194455311 AAAC - het . 5 +intergenic LINC01968(dist=75826),XXYLT1(dist=210285) chr3 194578723 194578723 G A het . 3 +intergenic LINC01968(dist=183471),XXYLT1(dist=102640) chr3 194686368 194686368 G C het . 2 +exonic XXYLT1 chr3 194790613 194790613 C A het . 11 +intronic XXYLT1 chr3 194792112 194792112 G A het . 2 +intronic ACAP2 chr3 195005422 195005422 G A het . 2 +intronic ACAP2 chr3 195132962 195132962 G T het . 5 +UTR3 APOD(NM_001647:c.*62_*63insACCC) chr3 195295708 195295708 - GGGT het . 6 +intronic APOD chr3 195300676 195300676 A G het . 3 +intergenic MUC20(dist=8095),MUC4(dist=5119) chr3 195468519 195468519 G A het . 3 +intronic MUC4 chr3 195478188 195478188 G A het . 2 +intronic MUC4 chr3 195483514 195483518 TTTCT - het . 3 +exonic MUC4 chr3 195486072 195486072 G A het . 14 +intronic MUC4 chr3 195489930 195489930 C T het . 7 +exonic MUC4 chr3 195501149 195501149 C T het . 4 +exonic MUC4 chr3 195506037 195506037 G T het . 5 +exonic MUC4 chr3 195510749 195510749 C A het . 2 +exonic MUC4 chr3 195510827 195510827 C T het . 17 +exonic MUC4 chr3 195511170 195511170 T G het . 18 +exonic MUC4 chr3 195511331 195511331 A G het . 6 +exonic MUC4 chr3 195512103 195512103 G A het . 35 +exonic MUC4 chr3 195512107 195512107 T A het . 36 +exonic MUC4 chr3 195513102 195513102 A G het . 25 +exonic MUC4 chr3 195513126 195513126 G A het . 23 +exonic MUC4 chr3 195513345 195513345 A C het . 14 +exonic MUC4 chr3 195513365 195513365 G A het . 16 +exonic MUC4 chr3 195513370 195513370 G A het . 17 +exonic;splicing MUC4;MUC4(NM_001322468:exon2:c.338+1->TGTTACGCAGGAGAC) chr3 195518112 195518112 - GTCTCCTGCGTAACA het . 17 +intronic TNK2 chr3 195603652 195603652 T G het . 5 +intronic TFRC chr3 195779661 195779661 C T het . 2 +intronic TFRC chr3 195790022 195790022 A T het . 3 +intronic TFRC chr3 195801928 195801938 AAAAAAAAAAT - het . 5 +intronic SLC51A chr3 195950729 195950732 TTTT - het . 10 +intronic PCYT1A chr3 195990491 195990491 C G het . 5 +intronic PCYT1A chr3 195996771 195996771 G A het . 2 +intronic TCTEX1D2 chr3 196034122 196034122 G T het . 5 +intronic TCTEX1D2 chr3 196034138 196034138 A G het . 3 +intergenic TM4SF19-TCTEX1D2(dist=3335),UBXN7(dist=11743) chr3 196068626 196068626 A G het . 2 +intronic UBXN7 chr3 196088809 196088809 - A het . 6 +exonic UBXN7 chr3 196089326 196089326 C A het . 23 +intronic UBXN7 chr3 196096396 196096396 G T het . 16 +intronic RNF168 chr3 196211033 196211033 C T het . 1 +intronic RNF168 chr3 196215353 196215353 A - het . 14 +intronic SMCO1 chr3 196236244 196236244 T C het . 4 +intergenic SMCO1(dist=11862),WDR53(dist=26951) chr3 196254099 196254099 T C het . 2 +intergenic SMCO1(dist=25348),WDR53(dist=13465) chr3 196267585 196267585 G A het . 1 +intergenic SMCO1(dist=32715),WDR53(dist=6098) chr3 196274952 196274952 G T het . 1 +intergenic SMCO1(dist=32728),WDR53(dist=6085) chr3 196274965 196274965 A C het . 2 +UTR3 FBXO45(NM_001105573:c.*3415A>C) chr3 196314604 196314604 A C het . 2 +intronic PIGX chr3 196455682 196455682 G A het . 6 +exonic PAK2 chr3 196529978 196529978 C T het . 9 +exonic PAK2 chr3 196530013 196530013 A G het . 7 +exonic PAK2 chr3 196530022 196530022 C T het . 7 +intronic SENP5 chr3 196657671 196657671 T - het . 7 +intronic MELTF chr3 196737673 196737673 G T het . 14 +intronic MELTF chr3 196750595 196750595 - T het . 6 +intronic DLG1 chr3 196778438 196778438 C T het . 11 +intronic DLG1 chr3 196875180 196875180 C T het . 2 +intergenic DLG1-AS1(dist=31139),LINC02012(dist=170373) chr3 197061760 197061760 C T het . 2 +intergenic DLG1-AS1(dist=56479),LINC02012(dist=145033) chr3 197087100 197087100 G T het . 7 +intergenic DLG1-AS1(dist=157099),LINC02012(dist=44413) chr3 197187720 197187720 T A het . 1 +exonic RUBCN chr3 197432020 197432020 C A het . 28 +intronic FYTTD1 chr3 197482523 197482523 A T het . 5 +intronic FYTTD1 chr3 197500394 197500394 - TTTG het . 9 +intronic FYTTD1 chr3 197501003 197501003 T - het . 8 +intronic LRCH3 chr3 197544201 197544201 A G het . 8 +intronic LRCH3 chr3 197544213 197544213 G A het . 4 +intronic LRCH3 chr3 197544215 197544215 G - het . 3 +intronic LRCH3 chr3 197544217 197544217 C T het . 2 +intronic LRCH3 chr3 197544230 197544230 T C het . 2 +intronic LRCH3 chr3 197577223 197577223 T - het . 16 +intronic LRCH3 chr3 197577241 197577241 C A het . 16 +intronic LRCH3 chr3 197577251 197577251 C A het . 8 +intronic LMLN chr3 197702876 197702876 T - het . 12 +intronic LMLN chr3 197713715 197713715 - TT het . 2 +ncRNA_exonic ANKRD18DP chr3 197807195 197807195 G A het . 3 +ncRNA_exonic FAM157A,FAM157B chr3 197880131 197880139 GCAGCAGCA - het . 7 +intergenic NONE(dist=NONE),ZNF595(dist=23231) chr4 29948 29948 C A het . 2 +intergenic NONE(dist=NONE),ZNF595(dist=15239) chr4 37940 37940 T C het . 2 +intergenic NONE(dist=NONE),ZNF595(dist=13000) chr4 40179 40179 T C het . 2 +intergenic NONE(dist=NONE),ZNF595(dist=10855) chr4 42324 42324 T C het . 1 +intergenic NONE(dist=NONE),ZNF595(dist=5700) chr4 47477 47479 AAG - het . 17 +intergenic NONE(dist=NONE),ZNF595(dist=5539) chr4 47640 47640 A G het . 6 +intergenic NONE(dist=NONE),ZNF595(dist=5521) chr4 47658 47658 C A het . 4 +intergenic NONE(dist=NONE),ZNF595(dist=2615) chr4 50564 50564 C - het . 2 +intronic ZNF595,ZNF718 chr4 54995 54995 A G het . 3 +intronic ZNF595,ZNF718 chr4 61834 61834 G A het . 2 +intronic ZNF595,ZNF718 chr4 65051 65051 G A het . 14 +intronic ZNF595,ZNF718 chr4 65077 65077 A T het . 13 +intronic ZNF595,ZNF718 chr4 65136 65136 T G het . 7 +intronic ZNF595,ZNF718 chr4 65239 65239 G A het . 3 +intronic ZNF595,ZNF718 chr4 66350 66350 C T het . 3 +intronic ZNF595,ZNF718 chr4 66559 66559 C G het . 2 +intronic ZNF595,ZNF718 chr4 67784 67784 T - het . 33 +exonic ZNF595 chr4 85995 85995 - A het . 8 +exonic;splicing ZNF595;ZNF595(NM_001286052:exon4:c.526+1T>C,NM_001286054:exon6:c.73+1T>C,NM_001286053:exon3:c.73+1T>C,NM_182524:exon5:c.622+1T>C) chr4 86018 86018 T C het . 2 +exonic ZNF595 chr4 87277 87277 G C het . 13 +exonic ZNF595 chr4 87313 87313 - A het . 9 +ncRNA_exonic ZNF876P chr4 206445 206445 C T het . 5 +UTR3 ZNF732(NM_001137608:c.*326G>T) chr4 264562 264562 C A het . 6 +intronic ZNF732 chr4 289213 289213 T C het . 10 +intergenic ZNF732(dist=8452),ZNF141(dist=23858) chr4 307710 307710 - AAG het . 3 +intergenic ZNF732(dist=8477),ZNF141(dist=23833) chr4 307735 307735 G T het . 2 +intergenic ZNF732(dist=19106),ZNF141(dist=13204) chr4 318364 318364 C T het . 1 +exonic ZNF141 chr4 367113 367113 C G het . 34 +ncRNA_intronic ABCA11P chr4 434462 434462 A T het . 2 +intronic PIGG chr4 499422 499422 A - het . 8 +intronic PIGG chr4 499440 499440 C A het . 9 +exonic PIGG chr4 515020 515020 C A het . 18 +intronic PDE6B chr4 651022 651022 C T het . 3 +intronic PCGF3 chr4 732482 732482 A - het . 3 +intronic PCGF3 chr4 759733 759733 T C het . 3 +downstream LOC100129917(dist=887) chr4 773050 773050 G A het . 2 +exonic TMEM175 chr4 946226 946226 T C het . 7 +exonic IDUA chr4 980896 980896 C A het . 12 +exonic IDUA chr4 980932 980932 G A het . 8 +intronic IDUA chr4 992993 992993 A - het . 2 +exonic RNF212 chr4 1087329 1087329 C T het . 2 +exonic RNF212 chr4 1087338 1087338 C T het . 4 +intronic CTBP1 chr4 1215585 1215585 T C het . 3 +intronic CTBP1 chr4 1217056 1217056 G A het . 2 +intergenic NKX1-1(dist=19326),FAM53A(dist=222052) chr4 1419556 1419556 T G het . 2 +UTR3 FAM53A(NM_001297435:c.*914T>C,NM_001174070:c.*646T>C,NM_001013622:c.*646T>C) chr4 1642374 1642374 A G het . 4 +intronic FAM53A chr4 1659128 1659128 T C het . 15 +intronic TACC3 chr4 1741534 1741534 C T het . 2 +UTR3 FGFR3(NM_001354809:c.*201T>G,NM_001354810:c.*175T>G,NM_001163213:c.*201T>G,NM_022965:c.*201T>G,NM_000142:c.*201T>G) chr4 1809190 1809190 T G het . 6 +UTR3 FGFR3(NM_001354809:c.*204_*205delAG,NM_001354810:c.*178_*179delAG,NM_001163213:c.*204_*205delAG,NM_022965:c.*204_*205delAG,NM_000142:c.*204_*205delAG) chr4 1809193 1809194 AG - het . 6 +intronic POLN chr4 2107531 2107531 - TGA het . 4 +intronic POLN chr4 2130784 2130784 A - het . 10 +intronic POLN chr4 2130814 2130814 G T het . 7 +intronic POLN chr4 2147772 2147772 - A het . 2 +intronic POLN chr4 2158103 2158104 TT - het . 8 +intronic POLN chr4 2158118 2158118 C A het . 10 +intronic POLN chr4 2183376 2183376 G A het . 2 +intronic ZFYVE28 chr4 2377944 2377944 T - het . 2 +intronic RNF4 chr4 2500923 2500923 - A het . 7 +intronic RNF4 chr4 2513620 2513620 G A het . 21 +intronic RNF4 chr4 2513624 2513624 A G het . 21 +intergenic RNF4(dist=34496),FAM193A(dist=75077) chr4 2552082 2552082 T A het . 3 +intergenic RNF4(dist=34498),FAM193A(dist=75075) chr4 2552084 2552084 A T het . 3 +intergenic RNF4(dist=34589),FAM193A(dist=74984) chr4 2552175 2552175 A G het . 7 +intergenic FAM193A(dist=5046),TNIP2(dist=4039) chr4 2739348 2739348 T A het . 1 +intronic TNIP2 chr4 2746285 2746285 A C het . 14 +intronic TNIP2 chr4 2746307 2746307 A C het . 11 +intergenic TNIP2(dist=9052),SH3BP2(dist=27595) chr4 2767155 2767155 T C het . 2 +intronic ADD1 chr4 2883485 2883485 G C het . 2 +exonic MFSD10 chr4 2935579 2935579 C A het . 32 +intronic GRK4 chr4 2965875 2965875 C - het . 7 +intronic GRK4 chr4 2965914 2965914 C A het . 9 +intronic GRK4 chr4 2994107 2994107 T G het . 11 +exonic GRK4 chr4 3039150 3039150 T C het . 10 +intergenic GRK4(dist=17973),HTT-AS(dist=4526) chr4 3060447 3060447 - T het . 2 +intronic HTT chr4 3144632 3144632 - AT het . 10 +intronic HTT chr4 3144633 3144633 G T het . 10 +exonic MSANTD1 chr4 3250969 3250969 C A het . 3 +exonic RGS12 chr4 3318413 3318413 A G het . 28 +intronic RGS12 chr4 3344891 3344891 T C het . 10 +exonic RGS12 chr4 3415833 3415833 C T het . 6 +intronic RGS12 chr4 3419312 3419313 CC TT het . 11 +intronic HGFAC chr4 3449793 3449793 G A het . 10 +intronic DOK7 chr4 3494055 3494055 T C het . 2 +intronic DOK7 chr4 3501924 3501924 A G het . 2 +exonic LRPAP1 chr4 3520698 3520698 G A het . 19 +intergenic LRPAP1(dist=39384),LINC00955(dist=4988) chr4 3573608 3573608 A G het . 1 +upstream LINC00955(dist=128) chr4 3578468 3578468 G A het . 2 +ncRNA_intronic LINC00955 chr4 3583891 3583891 A G het . 1 +ncRNA_exonic LINC00955 chr4 3589623 3589623 G A het . 25 +ncRNA_exonic LINC00955 chr4 3589689 3589689 C A het . 48 +ncRNA_exonic LINC00955 chr4 3589720 3589720 A - het . 38 +ncRNA_intronic LINC00955 chr4 3589846 3589846 T C het . 13 +ncRNA_intronic LINC00955 chr4 3590537 3590537 G C het . 3 +ncRNA_intronic LINC00955 chr4 3590549 3590549 G A het . 2 +ncRNA_exonic LINC00955 chr4 3590817 3590817 T C het . 24 +ncRNA_exonic LINC00955 chr4 3590824 3590827 ACAC - het . 24 +ncRNA_exonic LINC00955 chr4 3590878 3590878 C T het . 29 +ncRNA_exonic LINC00955 chr4 3590911 3590911 A C het . 48 +intergenic LINC00955(dist=10557),LINC02171(dist=72051) chr4 3603269 3603269 C T het . 2 +intergenic LINC00955(dist=11690),LINC02171(dist=70918) chr4 3604402 3604402 C A het . 2 +intergenic LINC00955(dist=11700),LINC02171(dist=70908) chr4 3604412 3604412 G T het . 2 +intergenic LINC00955(dist=11706),LINC02171(dist=70902) chr4 3604418 3604418 A T het . 1 +intergenic LINC00955(dist=11714),LINC02171(dist=70894) chr4 3604426 3604426 G A het . 1 +intergenic LINC00955(dist=11720),LINC02171(dist=70886) chr4 3604432 3604434 GGG - het . 1 +intergenic LINC00955(dist=11724),LINC02171(dist=70884) chr4 3604436 3604436 G T het . 1 +intergenic LINC00955(dist=13796),LINC02171(dist=68811) chr4 3606508 3606509 GG - het . 2 +intergenic LINC00955(dist=13800),LINC02171(dist=68808) chr4 3606512 3606512 - TA het . 2 +intergenic LINC00955(dist=31300),LINC02171(dist=51308) chr4 3624012 3624012 C T het . 1 +intergenic LINC00955(dist=37224),LINC02171(dist=45384) chr4 3629936 3629936 C T het . 2 +intergenic ADRA2C(dist=147830),FAM86EP(dist=25404) chr4 3918083 3918083 T C het . 2 +intergenic ADRA2C(dist=153475),FAM86EP(dist=19759) chr4 3923728 3923728 A G het . 2 +intergenic ADRA2C(dist=167868),FAM86EP(dist=5366) chr4 3938121 3938121 C T het . 10 +ncRNA_exonic FAM86EP chr4 3944184 3944184 C T het . 9 +intergenic FAM86EP(dist=152043),OTOP1(dist=81256) chr4 4109198 4109198 T C het . 9 +intergenic FAM86EP(dist=219554),OTOP1(dist=13745) chr4 4176709 4176709 - CT het . 7 +intronic OTOP1 chr4 4227398 4227398 T C het . 1 +intergenic TMEM128(dist=12698),LYAR(dist=6762) chr4 4262667 4262667 T C het . 2 +intronic LYAR chr4 4285221 4285221 A C het . 16 +intronic ZBTB49 chr4 4307969 4307969 A G het . 21 +intergenic ZBTB49(dist=16835),NSG1(dist=47635) chr4 4340348 4340348 G A het . 1 +exonic STX18 chr4 4425272 4425272 C A het . 28 +intronic STX18 chr4 4507324 4507324 C T het . 2 +intronic STX18 chr4 4507353 4507353 A T het . 2 +intronic MSX1 chr4 4862136 4862136 T G het . 14 +intronic STK32B chr4 5418539 5418539 C T het . 9 +ncRNA_intronic LINC01587 chr4 5528116 5528116 T - het . 4 +exonic EVC2 chr4 5620310 5620310 G A het . 18 +exonic EVC2 chr4 5624704 5624704 A G het . 9 +intronic EVC2 chr4 5624727 5624727 T A het . 8 +exonic EVC2 chr4 5627493 5627493 G T het . 31 +intronic EVC2 chr4 5690802 5690802 C A het . 16 +intronic EVC chr4 5735226 5735226 G C het . 13 +intronic EVC chr4 5746916 5746916 C T het . 32 +exonic EVC chr4 5746977 5746977 C A het . 42 +intronic EVC chr4 5757933 5757933 A - het . 13 +intronic EVC chr4 5757944 5757944 A C het . 15 +intronic CRMP1 chr4 5830414 5830414 T C het . 2 +intronic CRMP1 chr4 5853477 5853477 G A het . 2 +intergenic CRMP1(dist=19005),MIR378D1(dist=11187) chr4 5913815 5913815 C A het . 1 +intronic JAKMIP1 chr4 6050572 6050572 G A het . 9 +intronic JAKMIP1 chr4 6082373 6082373 C T het . 1 +intronic JAKMIP1 chr4 6114420 6114422 GCC TAA het . 9 +intronic JAKMIP1 chr4 6121299 6121299 - C het . 6 +ncRNA_intronic LINC02495 chr4 6211549 6211549 C A het . 4 +intronic WFS1 chr4 6279047 6279047 C T het . 3 +intronic WFS1 chr4 6293237 6293237 C G het . 5 +intronic PPP2R2C chr4 6330894 6330894 C A het . 4 +intronic PPP2R2C chr4 6350403 6350403 C T het . 2 +exonic PPP2R2C chr4 6383542 6383542 G A het . 14 +intronic PPP2R2C chr4 6385312 6385312 C T het . 2 +intronic PPP2R2C chr4 6424090 6424090 G A het . 2 +intronic PPP2R2C chr4 6425308 6425308 G A het . 1 +intronic MAN2B2 chr4 6596476 6596476 G A het . 7 +intergenic MRFAP1(dist=5351),LINC02482(dist=22634) chr4 6649821 6649821 G A het . 1 +intergenic BLOC1S4(dist=24395),KIAA0232(dist=40677) chr4 6743782 6743782 C T het . 1 +intergenic KIAA0232(dist=23908),TBC1D14(dist=1364) chr4 6909807 6909807 C G het . 2 +intergenic LINC02447(dist=43715),SORCS2(dist=45556) chr4 7148818 7148818 C A het . 1 +UTR3 PSAPL1(NM_001085382:c.*2903C>T) chr4 7432138 7432138 G A het . 2 +intronic SORCS2 chr4 7605310 7605310 C A het . 2 +intronic AFAP1 chr4 7793579 7793579 C A het . 1 +intronic AFAP1 chr4 7817699 7817699 T - het . 5 +exonic AFAP1 chr4 7844890 7844890 G A het . 20 +exonic LOC389199 chr4 7941318 7941318 T C het . 6 +exonic LOC389199 chr4 7941346 7941346 G C het . 12 +intergenic LOC389199(dist=7689),ABLIM2(dist=17325) chr4 7949712 7949712 A G het . 2 +intronic ABLIM2 chr4 8017759 8017759 T G het . 1 +intronic ABLIM2 chr4 8062871 8062871 A C het . 6 +intronic ABLIM2 chr4 8155985 8155985 A G het . 3 +intronic ABLIM2 chr4 8156009 8156009 T - het . 2 +intronic ABLIM2 chr4 8156014 8156014 T C het . 2 +intergenic ABLIM2(dist=16186),SH3TC1(dist=24225) chr4 8176745 8176746 AA - het . 7 +intronic SH3TC1 chr4 8211624 8211624 C T het . 3 +intronic HTRA3 chr4 8275787 8275787 G C het . 2 +intergenic LINC02517(dist=32669),ACOX3(dist=9648) chr4 8358361 8358361 G A het . 8 +intergenic LINC02517(dist=32817),ACOX3(dist=9500) chr4 8358509 8358509 G A het . 20 +intergenic LINC02517(dist=33163),ACOX3(dist=9154) chr4 8358855 8358855 G C het . 21 +exonic TRMT44 chr4 8456476 8456476 G T het . 19 +intergenic TRMT44(dist=93030),GPR78(dist=10905) chr4 8571312 8571312 G A het . 1 +intronic CPZ chr4 8613026 8613026 G A het . 9 +intergenic CPZ(dist=94500),HMX1(dist=131814) chr4 8715988 8715988 C T het . 1 +intergenic CPZ(dist=97847),HMX1(dist=128464) chr4 8719335 8719338 AAAG - het . 4 +intergenic CPZ(dist=136217),HMX1(dist=90097) chr4 8757705 8757705 - AG het . 3 +intergenic CPZ(dist=139955),HMX1(dist=86359) chr4 8761443 8761443 - A het . 2 +intergenic CPZ(dist=139961),HMX1(dist=86353) chr4 8761449 8761449 T A het . 2 +intergenic CPZ(dist=140725),HMX1(dist=85589) chr4 8762213 8762213 G T het . 2 +exonic HMX1 chr4 8869587 8869587 T C het . 4 +intergenic HMX1(dist=78273),FAM90A26(dist=223083) chr4 8951816 8951816 A G het . 3 +intergenic HMX1(dist=281485),FAM90A26(dist=19871) chr4 9155028 9155028 C A het . 24 +intergenic USP17L15(dist=2338),USP17L17(dist=5207) chr4 9240398 9240398 A G het . 2 +downstream USP17L6P(dist=152) chr4 9370948 9370948 C G het . 2 +intergenic USP17L6P(dist=16459),DEFB131A(dist=59005) chr4 9387255 9387255 T - het . 2 +intergenic MIR548I2(dist=68854),DRD5(dist=156467) chr4 9626791 9626791 T A het . 1 +intergenic MIR548I2(dist=143196),DRD5(dist=82125) chr4 9701133 9701133 C G het . 10 +intergenic MIR548I2(dist=149890),DRD5(dist=75431) chr4 9707827 9707827 A G het . 4 +intergenic DRD5(dist=30129),SLC2A9(dist=12086) chr4 9815762 9815762 G A het . 1 +intronic SLC2A9 chr4 10020757 10020757 A G het . 9 +intergenic SLC2A9(dist=14504),WDR1(dist=19587) chr4 10056376 10056376 T C het . 1 +intergenic SLC2A9(dist=24262),WDR1(dist=9829) chr4 10066134 10066134 C G het . 1 +intergenic WDR1(dist=52447),ZNF518B(dist=270399) chr4 10171105 10171105 C T het . 5 +intergenic WDR1(dist=52465),ZNF518B(dist=270381) chr4 10171123 10171123 C G het . 4 +intergenic WDR1(dist=84221),ZNF518B(dist=238625) chr4 10202879 10202879 A C het . 2 +intergenic WDR1(dist=176842),ZNF518B(dist=146004) chr4 10295500 10295500 T C het . 1 +exonic ZNF518B chr4 10446444 10446444 G C het . 29 +UTR5 ZNF518B(NM_053042:c.-34delA) chr4 10447986 10447986 T - het . 4 +intronic CLNK chr4 10617169 10617169 C A het . 2 +intronic CLNK chr4 10636063 10636063 G A het . 2 +intergenic CLNK(dist=201072),MIR572(dist=482890) chr4 10887561 10887561 C T het . 1 +intergenic CLNK(dist=228081),MIR572(dist=455881) chr4 10914570 10914570 A - het . 4 +intergenic CLNK(dist=281901),MIR572(dist=402061) chr4 10968390 10968390 T A het . 2 +intergenic CLNK(dist=291914),MIR572(dist=392048) chr4 10978403 10978403 A - het . 3 +intergenic CLNK(dist=618740),MIR572(dist=65222) chr4 11305229 11305229 G A het . 3 +intronic HS3ST1 chr4 11412519 11412522 AAAT - het . 2 +intergenic HS3ST1(dist=102066),LINC02360(dist=209972) chr4 11532603 11532603 G A het . 3 +intergenic LINC02270(dist=248520),RAB28(dist=867918) chr4 12501429 12501429 G A het . 1 +intergenic LINC02270(dist=860219),RAB28(dist=256219) chr4 13113128 13113128 C A het . 3 +intergenic LINC02270(dist=1058622),RAB28(dist=57816) chr4 13311531 13311531 G T het . 2 +intergenic LINC02270(dist=1086111),RAB28(dist=30327) chr4 13339020 13339020 A G het . 30 +intronic BOD1L1 chr4 13582681 13582681 A - het . 32 +intronic BOD1L1 chr4 13589180 13589180 C A het . 13 +intronic BOD1L1 chr4 13589212 13589212 A G het . 17 +ncRNA_intronic LINC01182 chr4 13684265 13684265 A G het . 2 +ncRNA_intronic LINC01182 chr4 13840371 13840371 C A het . 2 +ncRNA_intronic LINC01182 chr4 13840377 13840378 AA - het . 2 +intergenic LINC01085(dist=77859),LINC00504(dist=252555) chr4 14219535 14219535 G C het . 1 +intergenic LINC01085(dist=86102),LINC00504(dist=244312) chr4 14227778 14227778 C A het . 1 +intergenic LINC01085(dist=86125),LINC00504(dist=244289) chr4 14227801 14227801 A C het . 2 +ncRNA_intronic LINC00504 chr4 14514611 14514611 C - het . 5 +ncRNA_intronic LINC00504 chr4 14544383 14544383 A G het . 1 +ncRNA_intronic LINC00504 chr4 14712226 14712226 G A het . 2 +ncRNA_intronic LINC00504 chr4 14714599 14714599 A - het . 2 +ncRNA_intronic LINC00504 chr4 14719324 14719324 C T het . 5 +ncRNA_intronic LOC101929095 chr4 15083363 15083363 C T het . 2 +ncRNA_intronic LOC101929095 chr4 15090453 15090453 C T het . 2 +intronic CC2D2A chr4 15480225 15480225 A C het . 3 +intronic CC2D2A chr4 15503928 15503928 C A het . 20 +intronic CC2D2A chr4 15548550 15548550 T C het . 1 +intronic CC2D2A chr4 15562342 15562342 C T het . 9 +intronic FBXL5 chr4 15607562 15607562 T G het . 5 +exonic FGFBP1 chr4 15938093 15938093 C T het . 19 +intronic PROM1 chr4 15981927 15981928 AA - het . 9 +intronic PROM1 chr4 15982163 15982163 - G het . 11 +intronic PROM1 chr4 15994129 15994129 A T het . 5 +intronic PROM1 chr4 16000334 16000334 T C het . 6 +intronic PROM1 chr4 16010548 16010548 C A het . 6 +intronic PROM1 chr4 16012648 16012648 C G het . 2 +intergenic PROM1(dist=69572),TAPT1(dist=6933) chr4 16155195 16155195 C T het . 2 +intergenic TAPT1-AS1(dist=78264),LDB2(dist=165083) chr4 16338074 16338074 A C het . 1 +intronic LDB2 chr4 16865939 16865939 A G het . 2 +intergenic LDB2(dist=207306),LINC02493(dist=65642) chr4 17107738 17107738 C T het . 1 +intergenic SNORA75B(dist=125194),QDPR(dist=40317) chr4 17447699 17447699 T A het . 2 +intronic QDPR chr4 17494139 17494139 C A het . 5 +intergenic CLRN2(dist=25116),LAP3(dist=25084) chr4 17553843 17553843 A G het . 17 +intergenic CLRN2(dist=25144),LAP3(dist=25056) chr4 17553871 17553871 C A het . 15 +intergenic CLRN2(dist=25309),LAP3(dist=24891) chr4 17554036 17554036 A G het . 7 +intronic LAP3 chr4 17583201 17583202 AA - het . 3 +intronic LAP3 chr4 17590671 17590671 G A het . 3 +intronic LAP3 chr4 17604802 17604802 T C het . 1 +upstream MED28(dist=37) chr4 17616214 17616214 C A het . 4 +intronic MED28 chr4 17621310 17621310 G A het . 2 +intronic FAM184B chr4 17634255 17634255 G A het . 20 +intronic FAM184B chr4 17634256 17634256 - AA het . 20 +intronic FAM184B chr4 17636597 17636597 T C het . 8 +intronic FAM184B chr4 17666290 17666290 C A het . 5 +intronic FAM184B chr4 17666303 17666303 G A het . 5 +intronic FAM184B chr4 17682102 17682106 AAACA - het . 1 +intronic FAM184B chr4 17682130 17682130 T C het . 2 +intronic FAM184B chr4 17698454 17698457 AATA - het . 1 +intronic FAM184B chr4 17711970 17711970 G C het . 4 +intronic FAM184B chr4 17779295 17779295 A T het . 3 +intronic FAM184B chr4 17780381 17780381 C A het . 2 +intronic FAM184B chr4 17782700 17782700 C T het . 4 +intronic FAM184B chr4 17782705 17782705 G A het . 4 +intronic NCAPG chr4 17819135 17819135 T A het . 6 +intronic NCAPG chr4 17841848 17841848 A C het . 7 +exonic LCORL chr4 17910815 17910815 C A het . 39 +intergenic LCORL(dist=263389),SLIT2(dist=1966641) chr4 18286887 18286887 A G het . 1 +intergenic LCORL(dist=423875),SLIT2(dist=1806155) chr4 18447373 18447373 G A het . 2 +intergenic LCORL(dist=881888),SLIT2(dist=1348142) chr4 18905386 18905386 C T het . 3 +intergenic LCORL(dist=1017081),SLIT2(dist=1212949) chr4 19040579 19040579 A G het . 2 +intergenic LCORL(dist=1029863),SLIT2(dist=1200165) chr4 19053361 19053363 AAG - het . 1 +intergenic LCORL(dist=1112274),SLIT2(dist=1117756) chr4 19135772 19135772 G C het . 2 +intergenic LCORL(dist=1211477),SLIT2(dist=1018553) chr4 19234975 19234975 A G het . 2 +intergenic LCORL(dist=1222321),SLIT2(dist=1007709) chr4 19245819 19245819 - T het . 2 +intergenic LCORL(dist=1792695),SLIT2(dist=437335) chr4 19816193 19816193 T A het . 2 +intergenic LCORL(dist=1859962),SLIT2(dist=370068) chr4 19883460 19883460 - C het . 1 +intergenic LCORL(dist=2071484),SLIT2(dist=158546) chr4 20094982 20094982 A C het . 1 +intronic SLIT2 chr4 20469665 20469665 A T het . 3 +intronic SLIT2 chr4 20541327 20541327 G A het . 4 +intronic SLIT2 chr4 20555671 20555671 C A het . 13 +intronic KCNIP4 chr4 21420119 21420119 - A het . 3 +intronic KCNIP4 chr4 21420133 21420133 A C het . 3 +intronic KCNIP4 chr4 21517383 21517383 G C het . 2 +intronic KCNIP4 chr4 21579257 21579260 AAAC - het . 3 +intronic KCNIP4 chr4 21666388 21666388 A T het . 2 +intronic KCNIP4 chr4 21775376 21775376 T G het . 1 +intronic KCNIP4 chr4 21775382 21775382 G T het . 1 +intronic KCNIP4 chr4 21780019 21780019 A G het . 2 +intronic KCNIP4 chr4 21780026 21780026 A G het . 2 +ncRNA_intronic LOC100505912 chr4 22336971 22336971 T C het . 2 +intronic ADGRA3 chr4 22403331 22403331 T C het . 4 +intronic ADGRA3 chr4 22414715 22414715 C A het . 1 +intronic ADGRA3 chr4 22414722 22414722 C A het . 2 +intronic ADGRA3 chr4 22437995 22437995 C A het . 4 +intergenic ADGRA3(dist=78032),GBA3(dist=98827) chr4 22595709 22595710 AC - het . 2 +intergenic ADGRA3(dist=78172),GBA3(dist=98688) chr4 22595849 22595849 T A het . 2 +intergenic GBA3(dist=355260),PPARGC1A(dist=617189) chr4 23176455 23176455 A G het . 2 +intergenic GBA3(dist=396283),PPARGC1A(dist=576166) chr4 23217478 23217478 G C het . 2 +UTR3 PPARGC1A(NM_001330753:c.*32G>T,NM_001354825:c.*32G>T,NM_013261:c.*32G>T,NM_001354827:c.*32G>T,NM_001330752:c.*32G>T,NM_001330751:c.*32G>T,NM_001354826:c.*32G>T) chr4 23797413 23797413 C A het . 8 +exonic PPARGC1A chr4 23815346 23815346 C A het . 12 +intronic PPARGC1A chr4 23826138 23826138 A - het . 18 +intronic PPARGC1A chr4 23891841 23891842 AA - het . 2 +intronic PPARGC1A chr4 24003844 24003844 G A het . 1 +intronic PPARGC1A chr4 24212477 24212477 C A het . 1 +intergenic PPARGC1A(dist=12949),MIR573(dist=34414) chr4 24487401 24487401 A C het . 2 +intronic CCDC149 chr4 24896481 24896481 C A het . 5 +intronic CCDC149 chr4 24909529 24909529 T G het . 2 +intronic LGI2 chr4 25030312 25030312 G C het . 6 +intronic SEPSECS chr4 25153381 25153381 C G het . 5 +intronic SEPSECS chr4 25160732 25160732 - A het . 14 +intronic PI4K2B chr4 25277301 25277301 - A het . 2 +intergenic PI4K2B(dist=32305),ZCCHC4(dist=1260) chr4 25313136 25313136 A G het . 2 +intronic ZCCHC4 chr4 25342463 25342463 A C het . 2 +intronic ANAPC4 chr4 25381931 25381931 C - het . 11 +intronic ANAPC4 chr4 25396405 25396405 A G het . 16 +intergenic ANAPC4(dist=78447),LOC101929161(dist=34095) chr4 25498567 25498567 T C het . 3 +intergenic ANAPC4(dist=106622),LOC101929161(dist=5920) chr4 25526742 25526742 - TTTG het . 6 +intergenic ANAPC4(dist=106646),LOC101929161(dist=5896) chr4 25526766 25526766 A G het . 7 +downstream LOC101929161(dist=584) chr4 25532078 25532078 C G het . 2 +intergenic LOC101929161(dist=3688),SLC34A2(dist=82779) chr4 25574656 25574656 G T het . 3 +intergenic LOC101929161(dist=59927),SLC34A2(dist=26540) chr4 25630895 25630895 A - het . 2 +intergenic LOC101929161(dist=59936),SLC34A2(dist=26531) chr4 25630904 25630904 A T het . 2 +intergenic LOC101929161(dist=81033),SLC34A2(dist=5434) chr4 25652001 25652001 - GACTTCCTGGGCTCAAGCAGCCCC het . 3 +intergenic LOC101929161(dist=81624),SLC34A2(dist=4843) chr4 25652592 25652592 A T het . 2 +exonic SLC34A2 chr4 25678199 25678199 A G het . 22 +intronic SEL1L3 chr4 25779152 25779152 C A het . 1 +intronic SEL1L3 chr4 25779160 25779160 G A het . 2 +intronic SEL1L3 chr4 25780891 25780891 A G het . 5 +intronic SMIM20 chr4 25921128 25921128 T - het . 3 +intergenic SMIM20(dist=75848),RBPJ(dist=313983) chr4 26007349 26007349 G T het . 2 +intergenic SMIM20(dist=75863),RBPJ(dist=313968) chr4 26007364 26007364 G A het . 2 +intergenic SMIM20(dist=226455),RBPJ(dist=163376) chr4 26157956 26157956 G T het . 2 +UTR5 RBPJ(NM_005349:c.-981G>C,NM_203283:c.-99G>C) chr4 26321398 26321398 G C het . 12 +exonic RBPJ chr4 26322399 26322399 G A het . 11 +intronic RBPJ chr4 26416886 26416886 G A het . 2 +intronic TBC1D19 chr4 26615982 26615982 C T het . 12 +intronic TBC1D19 chr4 26616004 26616004 T G het . 19 +intronic TBC1D19 chr4 26690146 26690146 G T het . 6 +intergenic TBC1D19(dist=86107),LOC105374546(dist=17304) chr4 26843942 26843942 - TTTTC het . 2 +intronic STIM2 chr4 26995164 26995164 T - het . 2 +intronic STIM2 chr4 27021304 27021304 - T het . 5 +UTR3 STIM2(NM_001169117:c.*21delA) chr4 27022680 27022680 A - het . 15 +intergenic STIM2(dist=12403),LINC02261(dist=179695) chr4 27039406 27039406 - TT het . 2 +intergenic STIM2(dist=180396),LINC02261(dist=11702) chr4 27207399 27207399 A G het . 3 +intergenic STIM2(dist=180428),LINC02261(dist=11670) chr4 27207431 27207431 T C het . 3 +ncRNA_intronic LINC02261 chr4 27228894 27228894 A - het . 2 +intergenic LINC02261(dist=141429),MIR4275(dist=1395927) chr4 27425276 27425277 TA - het . 1 +intergenic LINC02261(dist=303549),MIR4275(dist=1233808) chr4 27587396 27587396 A G het . 3 +intergenic LINC02261(dist=490058),MIR4275(dist=1047298) chr4 27773905 27773906 TT - het . 1 +intergenic LINC02261(dist=490073),MIR4275(dist=1047284) chr4 27773920 27773920 T A het . 2 +intergenic LINC02261(dist=497669),MIR4275(dist=1039686) chr4 27781516 27781518 AAG - het . 2 +intergenic LINC02261(dist=497711),MIR4275(dist=1039646) chr4 27781558 27781558 T A het . 2 +intergenic LINC02261(dist=836809),MIR4275(dist=700548) chr4 28120656 28120656 G T het . 1 +intergenic LINC02261(dist=872096),MIR4275(dist=665261) chr4 28155943 28155943 - T het . 2 +intergenic LINC02261(dist=931874),MIR4275(dist=605483) chr4 28215721 28215721 - AAAG het . 2 +intergenic LINC02261(dist=1080188),MIR4275(dist=457169) chr4 28364035 28364035 C A het . 5 +intergenic LINC02261(dist=1115320),MIR4275(dist=422037) chr4 28399167 28399167 T G het . 3 +intergenic LINC02261(dist=1381395),MIR4275(dist=155962) chr4 28665242 28665242 A G het . 7 +intergenic LINC02261(dist=1473863),MIR4275(dist=63494) chr4 28757710 28757710 T G het . 2 +intergenic MIR4275(dist=97389),LINC02364(dist=79727) chr4 28918679 28918679 G C het . 1 +intergenic MIR4275(dist=169851),LINC02364(dist=7265) chr4 28991141 28991141 A T het . 2 +intergenic LINC02472(dist=41922),PCDH7(dist=1457325) chr4 29264705 29264705 T C het . 2 +intergenic LINC02472(dist=143088),PCDH7(dist=1356159) chr4 29365871 29365871 C G het . 2 +intergenic LINC02472(dist=346907),PCDH7(dist=1152340) chr4 29569690 29569690 A G het . 2 +intergenic LINC02472(dist=362538),PCDH7(dist=1136709) chr4 29585321 29585321 C - het . 4 +intergenic LINC02472(dist=447132),PCDH7(dist=1052112) chr4 29669915 29669918 GAGA - het . 2 +intronic PCDH7 chr4 31080171 31080171 T C het . 2 +intergenic PCDH7(dist=16330),LINC02497(dist=8013) chr4 31164753 31164753 G T het . 2 +intergenic LINC02501(dist=244034),LINC02506(dist=194524) chr4 31804477 31804477 T C het . 2 +upstream LINC02506(dist=669) chr4 31998332 31998332 G C het . 3 +intergenic LINC02506(dist=48553),LINC02353(dist=147079) chr4 32205581 32205581 C T het . 3 +intergenic LINC02506(dist=132480),LINC02353(dist=63152) chr4 32289508 32289508 C G het . 2 +intergenic LINC02506(dist=132488),LINC02353(dist=63144) chr4 32289516 32289516 C A het . 1 +intergenic LINC02506(dist=142421),LINC02353(dist=53211) chr4 32299449 32299449 C T het . 2 +intergenic LINC02353(dist=16578),LOC101928622(dist=1526541) chr4 32371420 32371420 T C het . 1 +intergenic LINC02353(dist=942804),LOC101928622(dist=600315) chr4 33297646 33297646 G C het . 2 +intergenic LINC02353(dist=942807),LOC101928622(dist=600312) chr4 33297649 33297649 G C het . 2 +intergenic LINC02353(dist=945121),LOC101928622(dist=597998) chr4 33299963 33299963 G T het . 2 +intergenic LINC02353(dist=966695),LOC101928622(dist=576424) chr4 33321537 33321537 T C het . 4 +intergenic LINC02353(dist=1488799),LOC101928622(dist=54320) chr4 33843641 33843641 A G het . 3 +intergenic LINC02353(dist=1488826),LOC101928622(dist=54293) chr4 33843668 33843668 A T het . 2 +intergenic LINC02353(dist=1488828),LOC101928622(dist=54288) chr4 33843670 33843673 AAAT - het . 2 +intergenic LINC02353(dist=1493511),LOC101928622(dist=49608) chr4 33848353 33848353 A G het . 3 +intergenic LINC02353(dist=1493514),LOC101928622(dist=49604) chr4 33848356 33848357 CT TC het . 3 +intergenic LINC02353(dist=1493540),LOC101928622(dist=49579) chr4 33848382 33848382 G A het . 3 +intergenic LINC02353(dist=1493544),LOC101928622(dist=49575) chr4 33848386 33848386 A G het . 3 +intergenic LINC02353(dist=1493547),LOC101928622(dist=49572) chr4 33848389 33848389 T A het . 3 +intergenic LINC02353(dist=1493574),LOC101928622(dist=49545) chr4 33848416 33848416 G T het . 4 +intergenic LINC02353(dist=1493581),LOC101928622(dist=49538) chr4 33848423 33848423 C T het . 4 +intergenic LINC02353(dist=1493615),LOC101928622(dist=49504) chr4 33848457 33848457 G T het . 1 +intergenic LINC02484(dist=877918),ARAP2(dist=918333) chr4 35149287 35149287 T C het . 1 +intergenic LINC02484(dist=877921),ARAP2(dist=918330) chr4 35149290 35149290 A T het . 1 +intergenic LINC02484(dist=1000201),ARAP2(dist=796050) chr4 35271570 35271570 G C het . 2 +intergenic LINC02484(dist=1045944),ARAP2(dist=750307) chr4 35317313 35317313 C T het . 2 +intergenic LINC02484(dist=1172958),ARAP2(dist=623293) chr4 35444327 35444327 C T het . 2 +intergenic LINC02484(dist=1442900),ARAP2(dist=353351) chr4 35714269 35714269 T C het . 1 +intronic ARAP2 chr4 36149025 36149025 G A het . 21 +intronic ARAP2 chr4 36149047 36149047 C A het . 18 +intronic ARAP2 chr4 36206739 36206739 A C het . 4 +ncRNA_intronic LINC02505 chr4 36565411 36565411 - T het . 3 +intergenic LINC02505(dist=251888),LOC100508631(dist=107991) chr4 36895410 36895410 G A het . 2 +ncRNA_intronic LOC100508631 chr4 37019341 37019341 C T het . 2 +intergenic LOC100508631(dist=1711),MIR4801(dist=219493) chr4 37024039 37024039 G A het . 10 +intergenic LOC100508631(dist=41050),MIR4801(dist=180154) chr4 37063378 37063378 T G het . 1 +intronic NWD2 chr4 37328896 37328896 G A het . 2 +intronic C4orf19 chr4 37462263 37462263 A G het . 21 +intronic C4orf19 chr4 37582073 37582073 C T het . 2 +intronic C4orf19 chr4 37590570 37590570 G A het . 13 +intronic RELL1 chr4 37672704 37672704 A G het . 1 +intronic RELL1 chr4 37674674 37674674 G T het . 2 +intronic PGM2 chr4 37845234 37845234 T A het . 4 +intronic PGM2 chr4 37848530 37848530 T G het . 11 +exonic PGM2 chr4 37863144 37863144 C A het . 17 +intronic TBC1D1 chr4 38045212 38045212 A - het . 2 +UTR3 KLF3(NM_016531:c.*40C>T) chr4 38698924 38698924 C T het . 3 +intronic FAM114A1 chr4 38937317 38937317 T - het . 7 +intronic FAM114A1 chr4 38942004 38942004 A - het . 2 +intronic TMEM156 chr4 39000734 39000734 T A het . 1 +intronic KLHL5 chr4 39111442 39111442 T C het . 1 +intronic KLHL5 chr4 39117103 39117103 G A het . 3 +intronic KLHL5 chr4 39118337 39118337 T C het . 2 +upstream WDR19(dist=577) chr4 39183447 39183447 G A het . 1 +intronic WDR19 chr4 39187522 39187522 G - het . 3 +intronic WDR19 chr4 39233720 39233720 A - het . 8 +intronic WDR19 chr4 39242277 39242277 A G het . 1 +intronic WDR19 chr4 39270599 39270599 C G het . 1 +intronic WDR19 chr4 39279907 39279907 A G het . 3 +exonic RFC1 chr4 39302029 39302029 T C het . 8 +intronic RFC1 chr4 39302709 39302709 A G het . 2 +intronic RFC1 chr4 39304540 39304540 C A het . 12 +downstream KLB(dist=577) chr4 39453730 39453730 G C het . 2 +intronic LIAS chr4 39463777 39463777 C A het . 7 +UTR3 UGDH(NM_001184700:c.*878delT,NM_003359:c.*878delT,NM_001184701:c.*878delT) chr4 39500885 39500885 A - het . 2 +UTR3 UGDH(NM_001184700:c.*40_*37delTTTT,NM_003359:c.*40_*37delTTTT,NM_001184701:c.*40_*37delTTTT) chr4 39501723 39501726 AAAA - het . 15 +ncRNA_intronic UGDH-AS1 chr4 39572279 39572279 T - het . 1 +intronic SMIM14 chr4 39627062 39627062 - T het . 2 +intronic UBE2K chr4 39772897 39772897 C A het . 12 +intergenic UBE2K(dist=20916),PDS5A(dist=19157) chr4 39805326 39805326 - TTCT het . 2 +intronic PDS5A chr4 39918633 39918633 - T het . 6 +intronic PDS5A chr4 39918636 39918636 A T het . 6 +intronic PDS5A chr4 39928486 39928486 - AA het . 10 +intronic PDS5A chr4 39931141 39931141 A C het . 2 +intronic PDS5A chr4 39974654 39974663 TTTTGCAATT - het . 11 +ncRNA_intronic LOC344967 chr4 40055006 40055006 - T het . 3 +ncRNA_intronic LOC344967 chr4 40055025 40055025 C A het . 3 +exonic N4BP2 chr4 40104105 40104105 C A het . 28 +intronic N4BP2 chr4 40106154 40106154 A G het . 2 +intronic RHOH chr4 40235546 40235555 AAATAAAATA - het . 2 +intergenic RHOH(dist=5722),LINC02265(dist=57095) chr4 40252106 40252107 AA - het . 2 +intergenic LINC02265(dist=2304),CHRNA9(dist=2606) chr4 40334740 40334740 C T het . 1 +intergenic LINC02265(dist=2314),CHRNA9(dist=2596) chr4 40334750 40334750 G T het . 1 +exonic RBM47 chr4 40440854 40440854 G C het . 7 +intronic RBM47 chr4 40454172 40454172 G A het . 3 +intronic RBM47 chr4 40454187 40454187 A - het . 3 +intronic RBM47 chr4 40492308 40492308 G A het . 2 +intronic NSUN7 chr4 40777011 40777011 C A het . 7 +intronic APBB2 chr4 40867329 40867329 A T het . 1 +intronic APBB2 chr4 40901888 40901889 CA TG het . 1 +intronic APBB2 chr4 40937220 40937220 A - het . 8 +intronic APBB2 chr4 40948272 40948272 C G het . 2 +exonic APBB2 chr4 41016117 41016117 C A het . 28 +intronic APBB2 chr4 41142908 41142908 C A het . 2 +intergenic UCHL1(dist=14291),LIMCH1(dist=76887) chr4 41284737 41284737 C T het . 1 +UTR5 LIMCH1(NM_001289122:c.-52A>G,NM_001112718:c.-52A>G,NM_001112717:c.-52A>G,NM_001330784:c.-52A>G,NM_014988:c.-52A>G,NM_001330792:c.-52A>G,NM_001330791:c.-52A>G,NM_001330790:c.-52A>G,NM_001330789:c.-52A>G,NM_001330788:c.-52A>G,NM_001330787:c.-52A>G) chr4 41362806 41362806 A G het . 6 +intronic LIMCH1 chr4 41568437 41568437 T C het . 2 +intronic LIMCH1 chr4 41589845 41589845 G A het . 2 +downstream LIMCH1(dist=372) chr4 41702433 41702433 - T het . 4 +intergenic LIMCH1(dist=42389),PHOX2B(dist=1648) chr4 41744450 41744451 TT - het . 2 +intronic PHOX2B chr4 41749359 41749359 C A het . 16 +intronic PHOX2B chr4 41749938 41749938 C T het . 3 +intronic TMEM33 chr4 41942064 41942064 T C het . 3 +intronic SLC30A9 chr4 42022782 42022782 G C het . 2 +intronic SLC30A9 chr4 42031437 42031437 A G het . 7 +intronic SLC30A9 chr4 42031448 42031448 C - het . 7 +intronic SLC30A9 chr4 42031472 42031472 T A het . 5 +intronic SLC30A9 chr4 42037517 42037517 T - het . 6 +intronic SLC30A9 chr4 42088050 42088050 C A het . 14 +intronic ATP8A1 chr4 42526711 42526711 C A het . 11 +exonic ATP8A1 chr4 42526781 42526781 T C het . 15 +intronic ATP8A1 chr4 42557859 42557859 C A het . 10 +intronic ATP8A1 chr4 42576522 42576522 C T het . 2 +intronic ATP8A1 chr4 42596462 42596463 AC - het . 7 +intergenic GRXCR1(dist=31285),LINC02383(dist=395591) chr4 43063960 43063960 T C het . 1 +intergenic GRXCR1(dist=116890),LINC02383(dist=309986) chr4 43149565 43149565 - C het . 3 +intergenic GRXCR1(dist=144149),LINC02383(dist=282727) chr4 43176824 43176824 T C het . 2 +intergenic GRXCR1(dist=161482),LINC02383(dist=265394) chr4 43194157 43194157 C T het . 2 +intergenic GRXCR1(dist=161490),LINC02383(dist=265386) chr4 43194165 43194165 C A het . 1 +ncRNA_intronic LINC02383 chr4 43493194 43493194 G A het . 3 +intergenic LINC02383(dist=173937),LINC02475(dist=350381) chr4 43668497 43668497 T - het . 2 +intergenic LINC02383(dist=217180),LINC02475(dist=307138) chr4 43711740 43711740 C A het . 2 +intergenic LINC02383(dist=284896),LINC02475(dist=239422) chr4 43779456 43779456 - A het . 2 +intergenic LINC02475(dist=16634),KCTD8(dist=135208) chr4 44040712 44040712 C T het . 2 +intronic KCTD8 chr4 44407258 44407258 - TTTG het . 2 +intergenic KCTD8(dist=36344),YIPF7(dist=137186) chr4 44487168 44487168 A C het . 2 +intergenic KCTD8(dist=71063),YIPF7(dist=102467) chr4 44521887 44521887 G A het . 2 +intronic YIPF7 chr4 44626846 44626846 G A het . 5 +intronic GUF1 chr4 44684438 44684438 A G het . 3 +intronic GUF1 chr4 44684455 44684455 C T het . 5 +intronic GUF1 chr4 44684507 44684507 C T het . 4 +UTR5 GNPDA2(NM_138335:c.-4290A>G,NM_001270881:c.-8173A>G,NM_001270880:c.-4290A>G) chr4 44728514 44728514 T C het . 1 +intergenic GNPDA2(dist=148758),GABRG1(dist=1160378) chr4 44877409 44877409 G T het . 2 +intergenic GNPDA2(dist=408754),GABRG1(dist=900382) chr4 45137405 45137405 A G het . 1 +intergenic GNPDA2(dist=427221),GABRG1(dist=881915) chr4 45155872 45155872 T C het . 1 +intergenic GNPDA2(dist=639403),GABRG1(dist=669733) chr4 45368054 45368054 - AAAC het . 2 +intergenic GNPDA2(dist=953597),GABRG1(dist=355539) chr4 45682248 45682248 G A het . 2 +intergenic GNPDA2(dist=999316),GABRG1(dist=309820) chr4 45727967 45727967 C T het . 2 +intronic GABRA2 chr4 46299716 46299716 A C het . 2 +intronic COX7B2 chr4 46741360 46741360 C A het . 2 +intronic COX7B2 chr4 46878944 46878944 A G het . 2 +intronic GABRB1 chr4 47033771 47033772 CG - het . 9 +intronic GABRB1 chr4 47034145 47034145 G A het . 6 +intronic GABRB1 chr4 47174343 47174343 G A het . 1 +intronic GABRB1 chr4 47197415 47197415 A - het . 2 +intronic GABRB1 chr4 47203501 47203501 C G het . 1 +intergenic COMMD8(dist=4528),ATP10D(dist=17135) chr4 47470275 47470275 G A het . 2 +intronic ATP10D chr4 47488431 47488431 A G het . 2 +intronic ATP10D chr4 47493308 47493308 - TAACAC het . 16 +intronic ATP10D chr4 47560859 47560859 A C het . 8 +intronic ATP10D chr4 47582387 47582387 A C het . 13 +intronic ATP10D chr4 47582393 47582393 C A het . 13 +intronic CORIN chr4 47603338 47603338 T - het . 2 +exonic CORIN chr4 47667257 47667257 C A het . 16 +exonic CORIN chr4 47682174 47682174 A G het . 3 +exonic CORIN chr4 47685818 47685818 C A het . 24 +ncRNA_intronic LOC101927179 chr4 47888137 47888137 T A het . 3 +ncRNA_intronic LOC101927157 chr4 47944030 47944030 A - het . 16 +ncRNA_intronic LOC101927157 chr4 47945352 47945352 C A het . 32 +ncRNA_intronic LOC101927157 chr4 47951945 47951945 G A het . 14 +upstream NIPAL1(dist=28) chr4 48018761 48018761 A G het . 6 +intronic TXK chr4 48077384 48077384 C T het . 2 +UTR3 TEC(NM_003215:c.*41G>A) chr4 48139392 48139392 C T het . 4 +intronic TEC chr4 48139565 48139565 C A het . 13 +intronic TEC chr4 48143587 48143587 G A het . 8 +intronic TEC chr4 48158780 48158780 C A het . 6 +intronic TEC chr4 48165834 48165834 T C het . 16 +intronic TEC chr4 48165835 48165835 - GAAA het . 16 +intronic TEC chr4 48165889 48165891 TTA - het . 10 +intronic TEC chr4 48183718 48183718 - A het . 3 +intronic TEC chr4 48200656 48200656 C T het . 2 +intronic TEC chr4 48207802 48207802 T A het . 2 +intergenic TEC(dist=61155),SLAIN2(dist=10644) chr4 48332969 48332969 C T het . 2 +intronic SLAIN2 chr4 48367159 48367159 G A het . 2 +intronic SLAIN2 chr4 48402394 48402394 G A het . 2 +intronic FRYL chr4 48537633 48537633 T C het . 3 +intronic FRYL chr4 48578345 48578345 G A het . 5 +intronic FRYL chr4 48589419 48589419 T C het . 2 +intronic FRYL chr4 48625213 48625213 C A het . 10 +intronic FRYL chr4 48625217 48625217 C A het . 9 +intronic FRYL chr4 48779942 48779942 T C het . 1 +intronic CWH43 chr4 49002857 49002858 CT - het . 2 +intronic CWH43 chr4 49018334 49018334 G C het . 1 +intergenic CWH43(dist=55961),NONE(dist=NONE) chr4 49120056 49120056 T C het . 2 +intergenic CWH43(dist=56001),NONE(dist=NONE) chr4 49120096 49120096 G A het . 2 +intergenic CWH43(dist=57917),NONE(dist=NONE) chr4 49122012 49122013 GC CA het . 3 +intergenic CWH43(dist=58978),NONE(dist=NONE) chr4 49123073 49123073 A G het . 3 +intergenic CWH43(dist=58983),NONE(dist=NONE) chr4 49123078 49123078 T A het . 2 +intergenic CWH43(dist=78996),NONE(dist=NONE) chr4 49143091 49143091 T C het . 1 +intergenic CWH43(dist=93097),NONE(dist=NONE) chr4 49157192 49157192 G C het . 2 +intergenic CWH43(dist=94589),NONE(dist=NONE) chr4 49158684 49158684 A G het . 2 +intergenic CWH43(dist=157381),NONE(dist=NONE) chr4 49221476 49221476 A C het . 2 +intergenic CWH43(dist=159095),NONE(dist=NONE) chr4 49223190 49223190 G A het . 2 +intergenic CWH43(dist=180914),NONE(dist=NONE) chr4 49245009 49245009 C A het . 4 +intergenic CWH43(dist=180924),NONE(dist=NONE) chr4 49245019 49245019 A G het . 4 +intergenic CWH43(dist=180929),NONE(dist=NONE) chr4 49245024 49245024 A C het . 4 +intergenic CWH43(dist=182521),NONE(dist=NONE) chr4 49246616 49246616 G A het . 3 +intergenic CWH43(dist=260980),NONE(dist=NONE) chr4 49325075 49325075 A G het . 3 +intergenic CWH43(dist=592037),NONE(dist=NONE) chr4 49656132 49656132 T G het . 2 +intergenic CWH43(dist=592045),NONE(dist=NONE) chr4 49656140 49656140 T A het . 2 +intergenic CWH43(dist=592047),NONE(dist=NONE) chr4 49656142 49656142 A G het . 2 +intronic DCUN1D4 chr4 52753274 52753275 TT - het . 20 +intronic SPATA18 chr4 52951214 52951216 TTT - het . 6 +intergenic SPATA18(dist=51147),USP46(dist=442509) chr4 53014618 53014618 - T het . 2 +intergenic SPATA18(dist=56967),USP46(dist=436689) chr4 53020438 53020438 G A het . 2 +intergenic SPATA18(dist=118306),USP46(dist=375350) chr4 53081777 53081777 A T het . 3 +intergenic SPATA18(dist=118311),USP46(dist=375345) chr4 53081782 53081782 T G het . 3 +intergenic SPATA18(dist=127340),USP46(dist=366316) chr4 53090811 53090811 T C het . 1 +intergenic SPATA18(dist=407029),USP46(dist=86627) chr4 53370500 53370500 T C het . 2 +intergenic ERVMER34-1(dist=35588),LINC01618(dist=2766) chr4 53653395 53653395 A T het . 2 +intergenic ERVMER34-1(dist=35617),LINC01618(dist=2737) chr4 53653424 53653424 T A het . 2 +intergenic ERVMER34-1(dist=35620),LINC01618(dist=2734) chr4 53653427 53653427 T A het . 2 +upstream LINC01618(dist=845) chr4 53655316 53655316 C A het . 1 +ncRNA_intronic LINC01618 chr4 53675420 53675420 A G het . 2 +intronic SCFD2 chr4 53822377 53822377 C T het . 23 +intronic SCFD2 chr4 54028197 54028197 G A het . 2 +intronic SCFD2 chr4 54203267 54203267 A C het . 1 +intronic SCFD2 chr4 54228851 54228851 - A het . 3 +intronic FIP1L1 chr4 54280706 54280706 A - het . 3 +intronic FIP1L1 chr4 54310058 54310058 C A het . 4 +intronic FIP1L1 chr4 54310188 54310188 A G het . 9 +intronic LNX1 chr4 54327235 54327235 T C het . 18 +intronic LNX1 chr4 54348167 54348167 C T het . 3 +ncRNA_exonic RPL21P44 chr4 54852694 54852698 TTTTA - het . 3 +intergenic GSX2(dist=69439),PDGFRA(dist=57695) chr4 55037561 55037561 A C het . 2 +intronic PDGFRA chr4 55130161 55130161 - T het . 7 +intronic PDGFRA chr4 55131002 55131002 A - het . 2 +intronic PDGFRA chr4 55144447 55144447 T C het . 3 +intronic PDGFRA chr4 55146389 55146389 C T het . 16 +intronic PDGFRA chr4 55146406 55146406 - TGTAGGTCCCCCAG het . 18 +intergenic LINC02283(dist=72697),LINC02260(dist=174410) chr4 55294968 55294968 G A het . 1 +intergenic KIT(dist=235592),KDR(dist=102175) chr4 55842473 55842473 A G het . 2 +intronic KDR chr4 55954882 55954882 T C het . 2 +intronic KDR chr4 55964605 55964605 C T het . 4 +intronic KDR chr4 55976948 55976948 A - het . 19 +intergenic KDR(dist=119642),SRD5A3(dist=100984) chr4 56111404 56111404 - TTTATA het . 3 +intronic SRD5A3 chr4 56218339 56218339 G T het . 24 +ncRNA_intronic SRD5A3-AS1 chr4 56235898 56235898 A - het . 11 +ncRNA_intronic SRD5A3-AS1 chr4 56244527 56244527 A G het . 1 +intronic TMEM165 chr4 56269405 56269405 A G het . 30 +intronic TMEM165 chr4 56290940 56290940 - AATA het . 7 +intronic CLOCK chr4 56309643 56309643 A - het . 3 +intronic CLOCK chr4 56310343 56310343 C G het . 2 +intronic CLOCK chr4 56320065 56320065 C A het . 9 +intronic CLOCK chr4 56330038 56330038 C A het . 18 +intronic CLOCK chr4 56342091 56342091 G C het . 31 +intronic NMU chr4 56475151 56475151 C A het . 18 +intronic NMU chr4 56475460 56475461 AT TA het . 10 +intronic NMU chr4 56493405 56493405 A C het . 1 +intronic EXOC1 chr4 56737096 56737096 - A het . 9 +intronic CEP135 chr4 56877726 56877726 T - het . 10 +intergenic CEP135(dist=24451),KIAA1211(dist=112381) chr4 56923980 56923980 G T het . 2 +exonic KIAA1211 chr4 57182265 57182267 AGA - het . 22 +exonic KIAA1211 chr4 57182647 57182647 G A het . 14 +intronic AASDH chr4 57205094 57205094 T G het . 4 +intronic PPAT chr4 57263903 57263903 A T het . 2 +intronic SRP72 chr4 57360597 57360597 G A het . 1 +exonic ARL9 chr4 57384993 57384993 C T het . 15 +intronic ARL9 chr4 57385092 57385092 G T het . 13 +intronic THEGL chr4 57423432 57423432 A G het . 1 +intergenic HOPX(dist=50937),SPINK2(dist=77217) chr4 57598809 57598809 T - het . 2 +intergenic HOPX(dist=67640),SPINK2(dist=60514) chr4 57615512 57615512 A G het . 1 +intergenic HOPX(dist=68573),SPINK2(dist=59581) chr4 57616445 57616445 G A het . 4 +intronic SPINK2 chr4 57686808 57686808 T - het . 7 +intronic SPINK2 chr4 57686821 57686821 T A het . 7 +intergenic SPINK2(dist=52047),REST(dist=33960) chr4 57740082 57740082 - AAGT het . 2 +intergenic SPINK2(dist=58138),REST(dist=27869) chr4 57746173 57746173 A G het . 2 +intergenic REST(dist=11501),NOA1(dist=15999) chr4 57813511 57813511 C A het . 4 +intronic NOA1 chr4 57833557 57833557 - C het . 3 +exonic NOA1 chr4 57843644 57843644 G A het . 32 +intronic POLR2B chr4 57854298 57854298 T G het . 5 +intronic POLR2B chr4 57861117 57861117 G A het . 8 +intronic POLR2B chr4 57861358 57861358 C T het . 4 +intronic IGFBP7 chr4 57906986 57906986 A T het . 18 +intronic IGFBP7 chr4 57939178 57939179 CA TG het . 9 +intronic IGFBP7 chr4 57966806 57966806 A T het . 2 +intergenic IGFBP7-AS1(dist=65427),LINC02380(dist=155146) chr4 58136892 58136892 G A het . 2 +intergenic IGFBP7-AS1(dist=210097),LINC02380(dist=10476) chr4 58281562 58281562 C T het . 2 +intergenic IGFBP7-AS1(dist=212250),LINC02380(dist=8323) chr4 58283715 58283715 A G het . 2 +ncRNA_intronic LINC02380 chr4 58307206 58307206 G C het . 2 +intergenic LINC02380(dist=217671),LINC02494(dist=840857) chr4 58549823 58549823 - T het . 2 +intergenic LINC02380(dist=257163),LINC02494(dist=801365) chr4 58589315 58589315 G A het . 2 +intergenic LINC02380(dist=259462),LINC02494(dist=799066) chr4 58591614 58591614 - A het . 2 +intergenic LINC02380(dist=259469),LINC02494(dist=799059) chr4 58591621 58591621 T C het . 2 +intergenic LINC02380(dist=357231),LINC02494(dist=701297) chr4 58689383 58689383 C T het . 2 +intergenic LINC02380(dist=532352),LINC02494(dist=526176) chr4 58864504 58864504 T - het . 3 +intergenic LINC02380(dist=631568),LINC02494(dist=426960) chr4 58963720 58963720 T C het . 2 +intergenic LINC02380(dist=631592),LINC02494(dist=426936) chr4 58963744 58963744 A T het . 3 +intergenic LINC02380(dist=661404),LINC02494(dist=397124) chr4 58993556 58993556 A G het . 2 +intergenic LINC02380(dist=811442),LINC02494(dist=247086) chr4 59143594 59143594 - TAT het . 1 +intergenic LINC02494(dist=69786),LINC02429(dist=377721) chr4 59472279 59472279 T C het . 1 +intergenic LINC02494(dist=308928),LINC02429(dist=138579) chr4 59711421 59711421 A - het . 2 +intergenic LINC02494(dist=326121),LINC02429(dist=121386) chr4 59728614 59728614 G A het . 3 +intergenic LINC02494(dist=439077),LINC02429(dist=8430) chr4 59841570 59841570 A G het . 1 +intergenic LINC02429(dist=115686),MIR548AG1(dist=1759974) chr4 60028363 60028363 G A het . 4 +intergenic LINC02429(dist=119128),MIR548AG1(dist=1756532) chr4 60031805 60031805 C A het . 1 +intergenic LINC02429(dist=177620),MIR548AG1(dist=1698040) chr4 60090297 60090297 - TA het . 2 +intergenic LINC02429(dist=502509),MIR548AG1(dist=1373151) chr4 60415186 60415186 A C het . 1 +intergenic LINC02429(dist=564025),MIR548AG1(dist=1311635) chr4 60476702 60476702 T C het . 2 +intergenic LINC02429(dist=637845),MIR548AG1(dist=1237815) chr4 60550522 60550522 G A het . 4 +intergenic LINC02429(dist=1311331),MIR548AG1(dist=564329) chr4 61224008 61224008 T G het . 3 +intergenic LINC02429(dist=1336569),MIR548AG1(dist=539091) chr4 61249246 61249246 G A het . 1 +intergenic LINC02429(dist=1461449),MIR548AG1(dist=414210) chr4 61374126 61374127 AA - het . 3 +intergenic LINC02429(dist=1689764),MIR548AG1(dist=185896) chr4 61602441 61602441 C T het . 2 +intergenic LINC02429(dist=1689769),MIR548AG1(dist=185891) chr4 61602446 61602446 T A het . 2 +intergenic LINC02429(dist=1807411),MIR548AG1(dist=68249) chr4 61720088 61720088 T C het . 3 +intergenic MIR548AG1(dist=14899),LINC02271(dist=206073) chr4 61803301 61803301 G A het . 1 +intergenic MIR548AG1(dist=48231),LINC02271(dist=172741) chr4 61836633 61836633 C A het . 2 +intergenic MIR548AG1(dist=208666),LINC02271(dist=12306) chr4 61997068 61997068 A G het . 1 +intronic ADGRL3 chr4 62626565 62626565 G T het . 2 +intronic ADGRL3 chr4 62626590 62626590 G T het . 1 +intronic ADGRL3 chr4 62752342 62752342 - TTTG het . 4 +exonic ADGRL3 chr4 62775294 62775294 C A het . 6 +intergenic ADGRL3-AS1(dist=261032),TECRL(dist=1853503) chr4 63288515 63288515 T C het . 2 +intergenic ADGRL3-AS1(dist=328028),TECRL(dist=1786507) chr4 63355511 63355511 T C het . 2 +intergenic ADGRL3-AS1(dist=455055),TECRL(dist=1659480) chr4 63482538 63482538 C G het . 5 +intergenic ADGRL3-AS1(dist=655460),TECRL(dist=1459075) chr4 63682943 63682943 T A het . 23 +intergenic ADGRL3-AS1(dist=655489),TECRL(dist=1459046) chr4 63682972 63682972 G T het . 24 +intergenic ADGRL3-AS1(dist=1251630),TECRL(dist=862905) chr4 64279113 64279113 - A het . 2 +intergenic ADGRL3-AS1(dist=1286500),TECRL(dist=828035) chr4 64313983 64313983 C A het . 3 +intergenic ADGRL3-AS1(dist=1345609),TECRL(dist=768926) chr4 64373092 64373092 C T het . 1 +intergenic ADGRL3-AS1(dist=1696818),TECRL(dist=417717) chr4 64724301 64724301 G A het . 1 +intergenic ADGRL3-AS1(dist=1721861),TECRL(dist=392674) chr4 64749344 64749344 T G het . 2 +intronic TECRL chr4 65147288 65147288 G A het . 13 +intronic TECRL chr4 65216778 65216778 A G het . 2 +intronic TECRL chr4 65220231 65220231 G A het . 2 +intergenic TECRL(dist=7033),LINC02232(dist=497788) chr4 65282211 65282211 T G het . 2 +intergenic TECRL(dist=23782),LINC02232(dist=481039) chr4 65298960 65298960 T G het . 6 +intergenic TECRL(dist=23811),LINC02232(dist=481010) chr4 65298989 65298989 G C het . 2 +intergenic TECRL(dist=101174),LINC02232(dist=403647) chr4 65376352 65376352 G C het . 1 +intergenic TECRL(dist=158511),LINC02232(dist=346309) chr4 65433689 65433690 TT GG het . 7 +intergenic TECRL(dist=170740),LINC02232(dist=334081) chr4 65445918 65445918 G A het . 2 +intergenic TECRL(dist=244022),LINC02232(dist=260799) chr4 65519200 65519200 T G het . 3 +intergenic TECRL(dist=244034),LINC02232(dist=260787) chr4 65519212 65519212 T C het . 3 +intergenic TECRL(dist=435823),LINC02232(dist=68998) chr4 65711001 65711001 A T het . 3 +intergenic TECRL(dist=491872),LINC02232(dist=12949) chr4 65767050 65767050 C T het . 2 +intergenic LINC02232(dist=75291),EPHA5(dist=239772) chr4 65945509 65945509 C T het . 1 +intergenic LINC02232(dist=203248),EPHA5(dist=111815) chr4 66073466 66073466 C A het . 2 +intergenic LINC02232(dist=307565),EPHA5(dist=7498) chr4 66177783 66177783 C T het . 2 +intronic EPHA5 chr4 66192122 66192122 T C het . 2 +intronic EPHA5 chr4 66232955 66232955 A - het . 6 +intronic EPHA5 chr4 66325423 66325423 G A het . 3 +intronic EPHA5 chr4 66473213 66473213 A C het . 2 +intronic EPHA5 chr4 66475281 66475281 C A het . 2 +intronic EPHA5 chr4 66499016 66499016 T G het . 1 +ncRNA_intronic EPHA5-AS1 chr4 66542704 66542704 A C het . 2 +intergenic EPHA5-AS1(dist=355062),MIR1269A(dist=228376) chr4 66914166 66914166 C A het . 3 +intergenic EPHA5-AS1(dist=425005),MIR1269A(dist=158433) chr4 66984109 66984109 A G het . 3 +intergenic MIR1269A(dist=135198),LOC101927237(dist=1005179) chr4 67277844 67277844 A - het . 3 +intergenic MIR1269A(dist=470626),LOC101927237(dist=669751) chr4 67613272 67613272 C A het . 2 +intergenic MIR1269A(dist=501900),LOC101927237(dist=638477) chr4 67644546 67644546 G A het . 2 +intergenic MIR1269A(dist=1121636),LOC101927237(dist=18741) chr4 68264282 68264282 C A het . 3 +intergenic MIR1269A(dist=1121639),LOC101927237(dist=18738) chr4 68264285 68264285 A G het . 3 +intergenic MIR1269A(dist=1122955),LOC101927237(dist=17422) chr4 68265601 68265601 G T het . 10 +intergenic MIR1269A(dist=1122959),LOC101927237(dist=17418) chr4 68265605 68265605 A G het . 6 +intergenic MIR1269A(dist=1123090),LOC101927237(dist=17287) chr4 68265736 68265736 T A het . 3 +intergenic MIR1269A(dist=1123436),LOC101927237(dist=16941) chr4 68266082 68266082 T C het . 2 +UTR3 CENPC(NM_001362481:c.*160_*159delCA,NM_001812:c.*160_*159delCA) chr4 68338163 68338164 TG - het . 4 +UTR3 CENPC(NM_001362481:c.*124C>G,NM_001812:c.*124C>G) chr4 68338199 68338199 G C het . 8 +intronic CENPC chr4 68398763 68398763 A G het . 1 +intronic CENPC chr4 68400064 68400065 GC AA het . 2 +intronic CENPC chr4 68406627 68406630 ATTA - het . 15 +intronic UBA6 chr4 68494924 68494924 C A het . 21 +intronic UBA6 chr4 68496379 68496379 T - het . 6 +ncRNA_intronic UBA6-AS1 chr4 68582636 68582636 C A het . 6 +intergenic TMPRSS11D(dist=18750),TMPRSS11A(dist=7553) chr4 68768466 68768466 T C het . 3 +intronic TMPRSS11A chr4 68827201 68827201 C T het . 5 +intronic TMPRSS11A chr4 68827204 68827204 T C het . 5 +intergenic TMPRSS11GP(dist=41677),TMPRSS11F(dist=14082) chr4 68904834 68904834 T G het . 10 +ncRNA_intronic LOC550113 chr4 68924724 68924724 T C het . 1 +ncRNA_intronic LOC550113 chr4 68930963 68930963 G T het . 2 +intronic TMPRSS11F chr4 68956498 68956498 C T het . 3 +intronic TMPRSS11F chr4 68979132 68979132 - A het . 2 +intronic TMPRSS11B chr4 69094927 69094930 TAAA - het . 9 +intergenic TMPRSS11E(dist=20462),UGT2B17(dist=19119) chr4 69383784 69383784 - AT het . 2 +intergenic TMPRSS11E(dist=20471),UGT2B17(dist=19110) chr4 69383793 69383793 G T het . 1 +intronic UGT2B17 chr4 69433293 69433293 A C het . 1 +intronic UGT2B17 chr4 69433351 69433351 C A het . 3 +intronic UGT2B17 chr4 69433354 69433354 C A het . 3 +intronic UGT2B10 chr4 69879878 69879878 - A het . 6 +intronic UGT2B7 chr4 69964235 69964235 T - het . 9 +ncRNA_intronic LOC105377267 chr4 70048146 70048146 G A het . 3 +intergenic UGT2B28(dist=115985),UGT2B4(dist=69130) chr4 70276753 70276753 G A het . 3 +intergenic UGT2B28(dist=126408),UGT2B4(dist=58707) chr4 70287176 70287176 T A het . 2 +intergenic UGT2B4(dist=35184),UGT2A1(dist=27219) chr4 70426916 70426916 A G het . 2 +exonic SULT1B1 chr4 70592858 70592858 A G het . 16 +intronic SULT1B1 chr4 70620708 70620708 G A het . 8 +intergenic SULT1B1(dist=2281),SULT1E1(dist=78219) chr4 70628711 70628711 - T het . 2 +intronic SULT1E1 chr4 70714992 70714992 C A het . 3 +intronic CSN1S1 chr4 70798235 70798235 C T het . 18 +upstream CSN2(dist=81) chr4 70826810 70826810 - A het . 7 +intergenic CSN2(dist=4350),STATH(dist=30569) chr4 70831079 70831079 - A het . 2 +intronic HTN3 chr4 70899037 70899037 T A het . 6 +intergenic CSN1S2AP(dist=31995),CSN1S2BP(dist=16338) chr4 70982983 70982983 C T het . 3 +intergenic CSN1S2AP(dist=32018),CSN1S2BP(dist=16315) chr4 70983006 70983006 A C het . 3 +intergenic CSN1S2AP(dist=36227),CSN1S2BP(dist=12106) chr4 70987215 70987215 A C het . 2 +intronic PRR27 chr4 71021888 71021888 C T het . 3 +intergenic PRR27(dist=24700),ODAM(dist=5218) chr4 71057026 71057026 G A het . 3 +exonic ODAM chr4 71062426 71062426 C T het . 14 +intronic ODAM chr4 71067010 71067010 T C het . 2 +intronic CSN3 chr4 71110639 71110639 G A het . 13 +intronic CSN3 chr4 71114677 71114679 ATA - het . 3 +intronic CSN3 chr4 71114702 71114702 - T het . 3 +UTR5 OPRPN(NM_021225:c.-12C>A,NM_001302807:c.-12C>A) chr4 71264991 71264991 C A het . 22 +intergenic OPRPN(dist=6392),MUC7(dist=13903) chr4 71282306 71282306 C A het . 2 +intergenic OPRPN(dist=6543),MUC7(dist=13752) chr4 71282457 71282457 A G het . 2 +intergenic OPRPN(dist=6551),MUC7(dist=13744) chr4 71282465 71282465 T C het . 3 +intergenic AMTN(dist=20728),AMBN(dist=38787) chr4 71419188 71419188 A G het . 2 +intergenic AMTN(dist=20739),AMBN(dist=38776) chr4 71419199 71419199 A G het . 2 +intergenic AMBN(dist=19604),ENAM(dist=1853) chr4 71492608 71492608 - A het . 2 +splicing ENAM(NM_031889:exon5:c.169-2A>G) chr4 71498366 71498366 A G het . 41 +intronic RUFY3 chr4 71648766 71648766 T C het . 10 +UTR3 RUFY3(NM_001130709:c.*36C>A) chr4 71655349 71655349 C A het . 13 +exonic RUFY3 chr4 71672353 71672353 C A het . 15 +UTR3 GRSF1(NM_001098477:c.*3736C>G,NM_002092:c.*3736C>G) chr4 71682868 71682868 G C het . 2 +UTR3 GRSF1(NM_001098477:c.*3720C>G,NM_002092:c.*3720C>G) chr4 71682884 71682884 G C het . 2 +UTR5 GRSF1(NM_001098477:c.-3158A>C) chr4 71705060 71705060 T G het . 18 +intergenic GRSF1(dist=8863),MOB1B(dist=53567) chr4 71714490 71714490 A T het . 1 +intergenic GRSF1(dist=8872),MOB1B(dist=53558) chr4 71714499 71714499 C T het . 1 +intergenic GRSF1(dist=16326),MOB1B(dist=46104) chr4 71721953 71721953 C G het . 1 +intronic DCK chr4 71864013 71864013 A G het . 5 +intergenic DCK(dist=84481),SLC4A4(dist=71893) chr4 71981110 71981110 C A het . 2 +intergenic DCK(dist=118827),SLC4A4(dist=37547) chr4 72015456 72015456 C T het . 2 +intronic SLC4A4 chr4 72139935 72139935 G T het . 2 +intronic SLC4A4 chr4 72158550 72158550 G T het . 2 +intronic SLC4A4 chr4 72426133 72426133 - TCTT het . 12 +intronic SLC4A4 chr4 72429288 72429288 A C het . 5 +intronic SLC4A4 chr4 72429304 72429304 C A het . 4 +intergenic GC(dist=40128),NPFFR2(dist=186156) chr4 72711365 72711365 T A het . 3 +intronic NPFFR2 chr4 72904622 72904622 C T het . 3 +intronic NPFFR2 chr4 72908359 72908359 A G het . 2 +intronic NPFFR2 chr4 72908603 72908603 C T het . 1 +intronic NPFFR2 chr4 72938114 72938114 G A het . 2 +intronic NPFFR2 chr4 72938132 72938132 A G het . 2 +intronic ADAMTS3 chr4 73338782 73338782 G A het . 2 +intronic ADAMTS3 chr4 73423490 73423490 G A het . 2 +intronic ADAMTS3 chr4 73433315 73433315 G C het . 2 +intronic ADAMTS3 chr4 73434380 73434380 T - het . 16 +intergenic ADAMTS3(dist=239345),COX18(dist=246552) chr4 73673861 73673861 C T het . 12 +intergenic ADAMTS3(dist=239357),COX18(dist=246540) chr4 73673873 73673873 T C het . 8 +intergenic ADAMTS3(dist=261335),COX18(dist=224562) chr4 73695851 73695851 A T het . 2 +intergenic ADAMTS3(dist=307595),COX18(dist=178302) chr4 73742111 73742111 G A het . 3 +intronic COX18 chr4 73930893 73930893 T G het . 1 +intronic ANKRD17 chr4 73968016 73968016 A G het . 15 +intronic ANKRD17 chr4 73979413 73979417 AAACA - het . 17 +intronic ANKRD17 chr4 74014521 74014521 T C het . 5 +intronic ANKRD17 chr4 74077947 74077947 C T het . 1 +intergenic ANKRD17(dist=70153),ALB(dist=75288) chr4 74194668 74194668 A G het . 2 +intergenic ANKRD17(dist=70159),ALB(dist=75279) chr4 74194674 74194677 TTTT - het . 2 +intergenic ANKRD17(dist=75092),ALB(dist=70349) chr4 74199607 74199607 - TT het . 2 +intergenic ANKRD17(dist=109740),ALB(dist=35701) chr4 74234255 74234255 G A het . 2 +intergenic AFP(dist=3783),AFM(dist=22174) chr4 74325285 74325288 TTTT - het . 2 +intergenic AFP(dist=5325),AFM(dist=20619) chr4 74326827 74326843 TTCTTCTTTCTTCTTTC - het . 2 +intronic AFM chr4 74351908 74351908 C T het . 8 +intronic AFM chr4 74354632 74354632 T C het . 3 +exonic AFM chr4 74357657 74357657 A C het . 18 +intronic AFM chr4 74364993 74364994 TT - het . 4 +intronic RASSF6 chr4 74453656 74453656 G A het . 24 +intronic RASSF6 chr4 74453686 74453686 C A het . 17 +intronic RASSF6 chr4 74453691 74453691 T C het . 17 +intronic RASSF6 chr4 74453719 74453719 T G het . 11 +intronic RASSF6 chr4 74454595 74454595 T G het . 3 +UTR5 RASSF6(NM_001270391:c.-8752C>T,NM_001270392:c.-47C>T,NM_177532:c.-8752C>T,NM_201431:c.-47C>T) chr4 74486264 74486264 G A het . 5 +intergenic RASSF6(dist=50806),CXCL8(dist=69069) chr4 74537154 74537154 G - het . 5 +intergenic CXCL8(dist=4816),CXCL6(dist=88024) chr4 74614249 74614249 A T het . 2 +intronic CXCL1 chr4 74736144 74736144 A G het . 5 +intergenic CXCL1(dist=67904),PF4(dist=41619) chr4 74804923 74804923 G T het . 5 +intronic CXCL3 chr4 74903134 74903134 T C het . 3 +intergenic EREG(dist=9593),AREG(dist=46745) chr4 75264070 75264070 G T het . 3 +intergenic EREG(dist=13077),AREG(dist=43261) chr4 75267554 75267554 - G het . 1 +intergenic EREG(dist=18210),AREG(dist=38128) chr4 75272687 75272687 G - het . 2 +intergenic AREG(dist=5024),BTC(dist=174461) chr4 75495509 75495509 T C het . 1 +intergenic AREG(dist=27697),BTC(dist=151788) chr4 75518182 75518182 G A het . 1 +intergenic BTC(dist=1798),PARM1(dist=136591) chr4 75721694 75721694 C T het . 2 +intergenic THAP6(dist=12354),ODAPH(dist=13668) chr4 76467590 76467590 C T het . 17 +intronic CDKL2 chr4 76552904 76552904 - CTTTT het . 2 +intergenic CDKL2(dist=9899),G3BP2(dist=2330) chr4 76565623 76565623 G A het . 2 +intronic G3BP2 chr4 76573688 76573688 G A het . 2 +intronic USO1 chr4 76690980 76690980 T G het . 2 +intronic USO1 chr4 76721705 76721705 C G het . 11 +intronic USO1 chr4 76726517 76726517 T - het . 7 +intronic USO1 chr4 76726528 76726528 T C het . 9 +intronic USO1 chr4 76726539 76726539 C T het . 10 +intronic USO1 chr4 76729892 76729892 - TTT het . 3 +intergenic USO1(dist=33151),PPEF2(dist=12433) chr4 76768593 76768593 G A het . 2 +intergenic USO1(dist=40540),PPEF2(dist=5044) chr4 76775982 76775982 G A het . 1 +intronic PPEF2 chr4 76790991 76790991 C T het . 1 +intronic PPEF2 chr4 76809319 76809319 A G het . 3 +intronic NAAA chr4 76838930 76838930 A - het . 10 +intronic ART3 chr4 76997157 76997157 - T het . 10 +intronic ART3 chr4 77021782 77021782 - A het . 8 +intronic ART3 chr4 77025794 77025794 A G het . 21 +intronic NUP54 chr4 77065477 77065479 AAA - het . 15 +intronic NUP54 chr4 77065518 77065518 T C het . 21 +intronic FAM47E,FAM47E-STBD1 chr4 77173299 77173299 T C het . 1 +intronic SHROOM3 chr4 77357491 77357491 - T het . 17 +intronic SHROOM3 chr4 77357492 77357492 C A het . 17 +intronic SHROOM3 chr4 77357497 77357497 - AAA het . 16 +intronic SHROOM3 chr4 77357498 77357498 G T het . 16 +intronic SHROOM3 chr4 77357528 77357528 G T het . 9 +intronic SHROOM3 chr4 77568331 77568331 G A het . 2 +intronic SHROOM3 chr4 77647214 77647214 G T het . 1 +intronic SHROOM3 chr4 77647227 77647227 G C het . 2 +intronic SHROOM3 chr4 77649164 77649164 G A het . 1 +intronic SHROOM3 chr4 77677571 77677572 TT - het . 14 +intergenic SOWAHB(dist=24350),SEPT11(dist=27438) chr4 77843429 77843429 G T het . 2 +UTR5 SEPT11(NM_018243:c.-41T>G,NM_001306147:c.-46019T>G) chr4 77871016 77871016 T G het . 20 +UTR3 SEPT11(NM_018243:c.*2465G>A,NM_001306147:c.*2465G>A) chr4 77958130 77958130 G A het . 2 +UTR3 CCNG2(NM_004354:c.*2251A>G) chr4 78089328 78089328 A G het . 1 +intergenic CCNG2(dist=9013),CXCL13(dist=332681) chr4 78100226 78100226 A C het . 2 +intergenic CCNG2(dist=9026),CXCL13(dist=332668) chr4 78100239 78100239 G T het . 3 +intergenic CCNG2(dist=9035),CXCL13(dist=332659) chr4 78100248 78100248 T C het . 2 +intronic CXCL13 chr4 78509289 78509289 - A het . 2 +intronic CNOT6L chr4 78647256 78647256 C A het . 14 +intronic CNOT6L chr4 78697552 78697552 - A het . 7 +UTR5 CNOT6L(NM_001365007:c.-42596C>G) chr4 78740132 78740132 G C het . 8 +intronic MRPL1 chr4 78806253 78806253 C A het . 6 +intergenic MRPL1(dist=8387),FRAS1(dist=96393) chr4 78882331 78882331 - A het . 6 +intergenic MRPL1(dist=91032),FRAS1(dist=13748) chr4 78964976 78964976 T C het . 2 +intronic FRAS1 chr4 78987328 78987328 A G het . 9 +intronic FRAS1 chr4 79158350 79158350 T C het . 2 +intronic FRAS1 chr4 79188161 79188161 G A het . 2 +exonic FRAS1 chr4 79238649 79238649 T C het . 3 +intronic FRAS1 chr4 79362209 79362209 A G het . 1 +intronic FRAS1 chr4 79377462 79377462 C A het . 1 +intronic FRAS1 chr4 79389531 79389531 C T het . 2 +exonic FRAS1 chr4 79400868 79400868 C T het . 2 +intronic FRAS1 chr4 79416297 79416297 T G het . 2 +intronic FRAS1 chr4 79420664 79420664 C T het . 1 +intronic FRAS1 chr4 79430178 79430178 G A het . 4 +exonic ANXA3 chr4 79522685 79522685 C T het . 26 +intronic ANXA3 chr4 79525584 79525584 - TTTT het . 10 +intronic ANXA3 chr4 79525591 79525593 CCT - het . 11 +intronic PAQR3 chr4 79854436 79854436 T C het . 8 +ncRNA_intronic LINC01088 chr4 79926447 79926447 T C het . 2 +ncRNA_intronic LINC01088 chr4 80148633 80148633 T A het . 1 +intergenic LINC00989(dist=165976),PCAT4(dist=85035) chr4 80663590 80663590 G A het . 1 +intergenic LINC00989(dist=194235),PCAT4(dist=56776) chr4 80691849 80691849 T C het . 2 +intergenic LINC00989(dist=224875),PCAT4(dist=26136) chr4 80722489 80722489 A - het . 2 +intergenic LINC00989(dist=227601),PCAT4(dist=23409) chr4 80725215 80725216 TT - het . 2 +intergenic LINC00989(dist=227757),PCAT4(dist=23254) chr4 80725371 80725371 C T het . 4 +intergenic LINC00989(dist=249676),PCAT4(dist=1335) chr4 80747290 80747290 T C het . 1 +exonic ANTXR2 chr4 80905990 80905990 C G het . 10 +intergenic FGF5(dist=10115),CFAP299(dist=34588) chr4 81222286 81222286 T G het . 8 +intergenic FGF5(dist=26022),CFAP299(dist=18681) chr4 81238193 81238193 C T het . 1 +intronic CFAP299 chr4 81340800 81340800 A G het . 2 +intronic BMP3 chr4 81966095 81966095 T C het . 1 +exonic PRKG2 chr4 82027073 82027073 C A het . 23 +intergenic PRKG2(dist=1618),RASGEF1B(dist=209658) chr4 82137889 82137889 C A het . 3 +intronic RASGEF1B chr4 82363658 82363658 C A het . 16 +intergenic RASGEF1B(dist=248889),HNRNPD(dist=632496) chr4 82641971 82641971 A C het . 1 +intergenic RASGEF1B(dist=291807),HNRNPD(dist=589578) chr4 82684889 82684889 C A het . 3 +intergenic RASGEF1B(dist=322046),HNRNPD(dist=559339) chr4 82715128 82715128 A - het . 2 +intergenic RASGEF1B(dist=538932),HNRNPD(dist=342453) chr4 82932014 82932014 T - het . 6 +upstream TMEM150C(dist=239) chr4 83483952 83483952 G C het . 3 +upstream TMEM150C(dist=290) chr4 83484003 83484008 TTTTTC - het . 3 +intronic SCD5 chr4 83615810 83615810 - TT het . 12 +intronic SCD5 chr4 83619272 83619272 C A het . 18 +intronic SEC31A chr4 83784743 83784743 G C het . 6 +exonic SEC31A chr4 83800060 83800060 C T het . 21 +intronic LIN54 chr4 83857402 83857402 T C het . 25 +intronic LIN54 chr4 83857638 83857638 G T het . 6 +intronic LIN54 chr4 83919695 83919695 - AAAG het . 3 +intronic LIN54 chr4 83930859 83930859 T C het . 2 +intronic COPS4 chr4 83967059 83967059 T G het . 3 +intronic COPS4 chr4 83979665 83979665 T C het . 1 +intronic COPS4 chr4 83987220 83987220 A G het . 1 +intergenic PLAC8(dist=74664),COQ2(dist=74400) chr4 84110575 84110577 AAA - het . 3 +intergenic PLAC8(dist=87787),COQ2(dist=61279) chr4 84123698 84123698 C T het . 1 +intergenic PLAC8(dist=87794),COQ2(dist=61272) chr4 84123705 84123705 C T het . 2 +intronic COQ2 chr4 84190901 84190901 T C het . 6 +intronic HPSE chr4 84227482 84227482 C A het . 7 +intronic HELQ chr4 84347423 84347423 C T het . 5 +exonic HELQ chr4 84350891 84350891 C A het . 23 +intergenic ABRAXAS1(dist=16707),GPAT3(dist=34029) chr4 84423038 84423038 C T het . 2 +intronic GPAT3 chr4 84461869 84461869 C T het . 2 +intronic GPAT3 chr4 84523767 84523767 A - het . 2 +intergenic GPAT3(dist=52872),LOC101928978(dist=309336) chr4 84579899 84579899 C T het . 2 +intergenic GPAT3(dist=273233),LOC101928978(dist=88975) chr4 84800260 84800260 T C het . 5 +intergenic GPAT3(dist=288109),LOC101928978(dist=74099) chr4 84815136 84815136 T - het . 2 +intergenic GPAT3(dist=288119),LOC101928978(dist=74089) chr4 84815146 84815146 T C het . 2 +intergenic GPAT3(dist=308533),LOC101928978(dist=53675) chr4 84835560 84835560 - C het . 3 +ncRNA_intronic LOC101928978 chr4 84954561 84954561 T - het . 2 +ncRNA_intronic LOC101928978 chr4 85171727 85171727 T G het . 2 +ncRNA_intronic LOC101928978 chr4 85171731 85171731 T C het . 2 +intergenic LOC101928978(dist=13655),NKX6-1(dist=180459) chr4 85233977 85233977 G A het . 2 +intergenic LOC101928978(dist=93654),NKX6-1(dist=100460) chr4 85313976 85313976 C T het . 2 +intronic CDS1 chr4 85534018 85534018 T C het . 2 +intronic WDFY3 chr4 85615773 85615773 C A het . 1 +intronic WDFY3 chr4 85615792 85615792 A C het . 2 +exonic WDFY3 chr4 85672670 85672670 C A het . 19 +exonic WDFY3 chr4 85704134 85704134 C A het . 16 +intronic WDFY3 chr4 85715656 85715656 A - het . 7 +intronic WDFY3 chr4 85723104 85723104 T - het . 7 +intergenic WDFY3-AS2(dist=75806),ARHGAP24(dist=390580) chr4 86005702 86005704 TTG - het . 2 +intergenic WDFY3-AS2(dist=90961),ARHGAP24(dist=375427) chr4 86020857 86020857 T A het . 2 +intergenic WDFY3-AS2(dist=237600),ARHGAP24(dist=228788) chr4 86167496 86167496 C T het . 2 +intronic ARHGAP24 chr4 86478405 86478405 - CT het . 1 +intronic ARHGAP24 chr4 86698914 86698914 T C het . 1 +intronic ARHGAP24 chr4 86871837 86871837 T - het . 3 +intronic ARHGAP24 chr4 86921612 86921612 C G het . 11 +exonic MAPK10 chr4 86952556 86952556 A C het . 35 +intronic MAPK10 chr4 87261547 87261547 T C het . 2 +intronic PTPN13 chr4 87728676 87728676 A C het . 7 +intergenic PTPN13(dist=2352),SLC10A6(dist=5941) chr4 87738680 87738680 G T het . 2 +intronic C4orf36 chr4 87812564 87812564 G C het . 9 +intronic C4orf36 chr4 87812587 87812587 A - het . 9 +intronic C4orf36 chr4 87812588 87812588 A T het . 9 +intronic AFF1 chr4 87870690 87870690 T - het . 6 +intronic AFF1 chr4 87870693 87870693 T A het . 6 +intronic AFF1 chr4 87870696 87870696 T A het . 6 +intronic AFF1 chr4 87904689 87904692 AAAA - het . 2 +intronic AFF1 chr4 87941614 87941614 C A het . 3 +intronic AFF1 chr4 87957989 87957989 T C het . 8 +intronic AFF1 chr4 87964978 87964978 T - het . 2 +intronic AFF1 chr4 87986955 87986955 C - het . 2 +intronic AFF1 chr4 88056720 88056720 T - het . 2 +UTR3 AFF1(NM_001166693:c.*72A>G,NM_001313959:c.*72A>G,NM_001313960:c.*72A>G,NM_005935:c.*72A>G) chr4 88056925 88056925 A G het . 4 +intronic HSD17B11 chr4 88311223 88311223 A C het . 2 +UTR5 HSD17B11(NM_016245:c.-71T>A) chr4 88312293 88312293 A T het . 9 +intergenic NUDT9(dist=4840),SPARCL1(dist=9036) chr4 88385446 88385446 C T het . 2 +intronic DSPP chr4 88533164 88533171 TGTGTGTG - het . 12 +exonic DSPP chr4 88533691 88533691 C T het . 52 +exonic DSPP chr4 88535868 88535869 AC GT het . 10 +exonic DSPP chr4 88536362 88536362 G A het . 31 +exonic DSPP chr4 88536692 88536692 A G het . 13 +UTR3 DSPP(NM_014208:c.*17G>A) chr4 88537737 88537737 G A het . 29 +intronic IBSP chr4 88728193 88728193 C T het . 1 +intergenic MEPE(dist=45301),SPP1(dist=83533) chr4 88813269 88813269 - C het . 13 +intergenic MEPE(dist=45303),SPP1(dist=83531) chr4 88813271 88813271 - ATT het . 13 +exonic PKD2 chr4 88929174 88929176 GAG - het . 26 +intronic ABCG2 chr4 89055163 89055163 G - het . 2 +ncRNA_intronic LOC105369192 chr4 89252840 89252840 C T het . 1 +intergenic LOC105369192(dist=18211),HERC6(dist=18871) chr4 89281020 89281020 T C het . 2 +exonic HERC6 chr4 89352435 89352435 C A het . 11 +intronic HERC5 chr4 89421229 89421229 A - het . 8 +intronic HERC3 chr4 89571260 89571260 A G het . 5 +exonic NAP1L5 chr4 89618837 89618837 T C het . 8 +intronic FAM13A chr4 89696890 89696890 C G het . 2 +intronic FAM13A chr4 89802970 89802970 G C het . 2 +intronic FAM13A chr4 89912464 89912464 C T het . 2 +exonic FAM13A chr4 89941787 89941787 C A het . 27 +intronic FAM13A chr4 89972465 89972465 T C het . 1 +intergenic FAM13A(dist=12230),TIGD2(dist=43392) chr4 89990576 89990576 C A het . 2 +UTR3 GPRIN3(NM_198281:c.*49C>T) chr4 90168882 90168882 G A het . 4 +intronic SNCA chr4 90650172 90650172 - T het . 10 +intronic SNCA chr4 90749463 90749463 - AAAAA het . 12 +intronic CCSER1 chr4 91234250 91234250 A G het . 6 +intronic CCSER1 chr4 91459216 91459216 C T het . 1 +intronic CCSER1 chr4 91571491 91571491 G A het . 2 +intronic CCSER1 chr4 91631424 91631424 G T het . 4 +intronic CCSER1 chr4 91633365 91633365 A G het . 2 +intronic CCSER1 chr4 91763203 91763203 C A het . 1 +intronic CCSER1 chr4 91969442 91969442 A T het . 2 +intronic CCSER1 chr4 92181913 92181913 A T het . 2 +intronic CCSER1 chr4 92240317 92240317 T C het . 3 +intronic CCSER1 chr4 92246252 92246252 C A het . 8 +intronic CCSER1 chr4 92249009 92249009 C T het . 1 +intronic CCSER1 chr4 92470352 92470352 G T het . 2 +intronic CCSER1 chr4 92498586 92498586 T C het . 1 +intergenic CCSER1(dist=12299),LNCPRESS2(dist=647980) chr4 92535669 92535669 - AATC het . 2 +intergenic CCSER1(dist=632568),LNCPRESS2(dist=27711) chr4 93155938 93155938 C T het . 1 +UTR5 GRID2(NM_001286838:c.-55del-,NM_001510:c.-55del-) chr4 93225753 93225753 A - het . 10 +intronic GRID2 chr4 93439321 93439321 T A het . 2 +intronic GRID2 chr4 93748554 93748554 A - het . 2 +ncRNA_intronic LOC101929210 chr4 95100235 95100235 - T het . 1 +ncRNA_intronic LOC101929210 chr4 95100243 95100243 A T het . 2 +ncRNA_intronic LOC101929210 chr4 95103005 95103005 C T het . 2 +intronic SMARCAD1 chr4 95129238 95129238 T C het . 8 +intronic SMARCAD1 chr4 95144761 95144761 C T het . 2 +intronic SMARCAD1 chr4 95147553 95147553 - T het . 4 +intronic SMARCAD1 chr4 95157240 95157240 A G het . 2 +intronic SMARCAD1 chr4 95205244 95205244 G A het . 2 +intronic SMARCAD1 chr4 95206253 95206256 TATC - het . 19 +intronic PDLIM5 chr4 95503670 95503670 G T het . 4 +intronic PDLIM5 chr4 95503902 95503902 T C het . 8 +intronic PDLIM5 chr4 95508128 95508128 G T het . 3 +intronic PDLIM5 chr4 95508130 95508130 A T het . 3 +intronic PDLIM5 chr4 95510856 95510856 - CTTT het . 2 +intronic PDLIM5 chr4 95564221 95564221 T A het . 1 +UTR3 PDLIM5(NM_001256428:c.*2041A>C,NM_001256427:c.*82A>C,NM_001256426:c.*2041A>C,NM_001256425:c.*2041A>C,NM_006457:c.*2041A>C,NM_001011513:c.*2041A>C) chr4 95587259 95587259 A C het . 21 +intronic BMPR1B chr4 95745282 95745282 A T het . 1 +intronic BMPR1B chr4 95753106 95753106 C G het . 2 +intronic BMPR1B chr4 95885247 95885247 T G het . 2 +intronic BMPR1B chr4 95898655 95898655 C T het . 2 +intronic BMPR1B chr4 96040704 96040704 C T het . 2 +intronic BMPR1B chr4 96070297 96070297 C T het . 2 +intronic BMPR1B chr4 96070299 96070299 A C het . 2 +intronic UNC5C chr4 96199674 96199674 G A het . 10 +intronic UNC5C chr4 96359601 96359602 AT - het . 2 +intronic UNC5C chr4 96390455 96390455 A T het . 3 +intergenic UNC5C(dist=255989),PDHA2(dist=34889) chr4 96726350 96726350 T C het . 1 +intergenic PDHA2(dist=218893),LINC02267(dist=250336) chr4 96981518 96981518 T A het . 2 +intergenic PDHA2(dist=293877),LINC02267(dist=175351) chr4 97056502 97056503 AA - het . 3 +intergenic PDHA2(dist=354096),LINC02267(dist=115133) chr4 97116721 97116721 A G het . 1 +ncRNA_intronic LINC02267 chr4 97340567 97340567 C T het . 3 +ncRNA_intronic LINC02267 chr4 97392005 97392005 C A het . 2 +ncRNA_intronic LINC02267 chr4 97422997 97422997 C A het . 1 +ncRNA_intronic LINC02267 chr4 97423007 97423007 T C het . 3 +ncRNA_intronic LINC02267 chr4 97450798 97450798 G T het . 5 +ncRNA_intronic LINC02267 chr4 97588063 97588063 C T het . 1 +intronic STPG2 chr4 98674152 98674152 C T het . 2 +intronic STPG2 chr4 98899213 98899213 T C het . 3 +intronic RAP1GDS1 chr4 99194070 99194070 G C het . 2 +intronic RAP1GDS1 chr4 99214538 99214538 T - het . 6 +intronic TSPAN5 chr4 99485507 99485507 T C het . 2 +intronic EIF4E chr4 99805825 99805825 A T het . 3 +intronic EIF4E chr4 99805854 99805854 A C het . 6 +intergenic EIF4E(dist=49770),METAP1(dist=15216) chr4 99901558 99901572 TTTTCTTTTCTTTTC - het . 2 +intronic METAP1 chr4 99924219 99924219 - AAAC het . 2 +intronic ADH5 chr4 100002372 100002372 C T het . 5 +ncRNA_intronic LOC100507053 chr4 100039396 100039396 A T het . 3 +ncRNA_intronic LOC100507053 chr4 100039423 100039427 AAACA - het . 3 +ncRNA_intronic LOC100507053 chr4 100048211 100048211 C A het . 6 +ncRNA_intronic LOC100507053 chr4 100048327 100048327 G A het . 14 +ncRNA_intronic LOC100507053 chr4 100048344 100048344 - A het . 12 +UTR3 ADH1B(NM_001286650:c.*100G>T,NM_000668:c.*100G>T) chr4 100228897 100228897 C A het . 5 +intronic ADH1C chr4 100260670 100260672 CCC - het . 8 +intronic ADH1C chr4 100260681 100260681 C A het . 10 +intergenic ADH1C(dist=17441),ADH7(dist=41775) chr4 100291643 100291643 G T het . 2 +intergenic ADH1C(dist=53601),ADH7(dist=5615) chr4 100327803 100327803 G A het . 2 +intronic C4orf17 chr4 100445589 100445589 - C het . 11 +intronic C4orf17 chr4 100445592 100445592 C A het . 12 +intronic MTTP chr4 100532253 100532253 A T het . 26 +exonic C4orf54 chr4 100572865 100572865 C A het . 17 +exonic C4orf54 chr4 100573062 100573062 G A het . 7 +exonic C4orf54 chr4 100573518 100573518 C A het . 22 +exonic C4orf54 chr4 100574821 100574821 C G het . 5 +intronic DDIT4L chr4 101109385 101109385 A C het . 5 +ncRNA_intronic LOC101929353 chr4 101117014 101117014 T C het . 4 +intergenic LOC101929353(dist=138196),SNORA101A(dist=41426) chr4 101274858 101274858 A C het . 2 +intronic EMCN chr4 101425878 101425878 C T het . 4 +intronic EMCN chr4 101436992 101436992 - AAAC het . 3 +intergenic LINC01216(dist=10966),PPP3CA(dist=337351) chr4 101607236 101607236 A - het . 2 +intergenic LINC01216(dist=10974),PPP3CA(dist=337343) chr4 101607244 101607244 A C het . 2 +intergenic LINC01216(dist=93354),PPP3CA(dist=254963) chr4 101689624 101689624 A G het . 2 +intergenic LINC01216(dist=100646),PPP3CA(dist=247671) chr4 101696916 101696916 T G het . 2 +intronic PPP3CA chr4 101953776 101953776 C A het . 4 +intronic PPP3CA chr4 102142617 102142617 T - het . 2 +intronic PPP3CA chr4 102198113 102198113 T C het . 2 +UTR5 PPP3CA(NM_001130692:c.-82_-90delGCGGCGGCG,NM_001130691:c.-82_-90delGCGGCGGCG,NM_000944:c.-82_-90delGCGGCGGCG) chr4 102268035 102268043 CGCCGCCGC - het . 11 +intergenic FLJ20021(dist=97588),BANK1(dist=344136) chr4 102367628 102367628 G A het . 1 +intergenic FLJ20021(dist=268642),BANK1(dist=173081) chr4 102538682 102538683 TT - het . 2 +intronic BANK1 chr4 102839362 102839362 A T het . 7 +intergenic BANK1(dist=52386),SLC39A8(dist=123843) chr4 103048355 103048355 - AA het . 2 +intergenic BANK1(dist=130119),SLC39A8(dist=46110) chr4 103126088 103126088 T - het . 2 +intronic SLC39A8 chr4 103176039 103176039 T C het . 1 +intronic SLC39A8 chr4 103203776 103203776 G - het . 3 +intronic SLC39A8 chr4 103203915 103203915 A G het . 6 +intronic NFKB1 chr4 103497985 103497985 C A het . 10 +intronic MANBA chr4 103592591 103592591 - A het . 16 +ncRNA_intronic LOC102723704 chr4 103708519 103708519 A - het . 2 +intronic SLC9B1 chr4 103827870 103827870 C - het . 10 +intronic SLC9B1 chr4 103872854 103872854 C A het . 2 +upstream SLC9B1(dist=514) chr4 103941410 103941410 - TTT het . 6 +intronic SLC9B2 chr4 103952169 103952169 T - het . 2 +intronic SLC9B2 chr4 103988899 103988899 G T het . 9 +intronic BDH2 chr4 104007719 104007719 A - het . 15 +intronic BDH2 chr4 104012903 104012903 - A het . 22 +intronic BDH2 chr4 104013719 104013719 T C het . 19 +intronic CENPE chr4 104061665 104061665 C A het . 5 +exonic CENPE chr4 104066991 104066991 C A het . 10 +intergenic CENPE(dist=98894),LINC02428(dist=127739) chr4 104218460 104218460 C A het . 3 +intergenic LINC02428(dist=82723),TACR3(dist=67017) chr4 104443608 104443608 G C het . 1 +intergenic LINC02428(dist=133159),TACR3(dist=16581) chr4 104494044 104494044 C A het . 5 +intronic TACR3 chr4 104579587 104579587 C T het . 20 +ncRNA_intronic CXXC4-AS1 chr4 105523268 105523272 TCCTT - het . 4 +ncRNA_intronic CXXC4-AS1 chr4 105577946 105577946 G T het . 2 +intergenic CXXC4-AS1(dist=22607),TET2(dist=425676) chr4 105641356 105641356 C T het . 2 +ncRNA_intronic TET2-AS1 chr4 106135300 106135300 G T het . 1 +ncRNA_intronic TET2-AS1 chr4 106135316 106135316 G T het . 2 +exonic TET2 chr4 106156187 106156187 C T het . 19 +ncRNA_intronic TET2-AS1 chr4 106164284 106164284 T G het . 2 +intronic PPA2 chr4 106317370 106317370 - ATAAA het . 5 +intronic PPA2 chr4 106317499 106317502 CAAA - het . 15 +intronic PPA2 chr4 106317512 106317512 A - het . 13 +intronic PPA2 chr4 106345125 106345125 A G het . 3 +intergenic PPA2(dist=52965),ARHGEF38(dist=25585) chr4 106448192 106448192 C T het . 10 +intronic NPNT chr4 106819053 106819053 G A het . 13 +intronic TBCK chr4 106982201 106982201 A - het . 3 +intronic TBCK chr4 107157700 107157701 AA - het . 8 +intronic TBCK chr4 107202263 107202263 A G het . 3 +intergenic LINC02173(dist=10610),DKK2(dist=457745) chr4 107385214 107385214 - G het . 2 +intergenic LINC02173(dist=281816),DKK2(dist=186539) chr4 107656420 107656420 G A het . 3 +intergenic LINC02173(dist=316204),DKK2(dist=152151) chr4 107690808 107690808 T C het . 2 +intergenic LINC02173(dist=356796),DKK2(dist=111557) chr4 107731400 107731402 CTT - het . 2 +intergenic DKK2(dist=192321),PAPSS1(dist=385048) chr4 108149774 108149774 - A het . 2 +intergenic DKK2(dist=318170),PAPSS1(dist=259199) chr4 108275623 108275623 G A het . 9 +intronic PAPSS1 chr4 108631681 108631685 GGGAG - het . 3 +intronic PAPSS1 chr4 108631701 108631701 A G het . 3 +intronic PAPSS1 chr4 108641119 108641119 C A het . 2 +intronic PAPSS1 chr4 108641169 108641169 C G het . 5 +intronic CYP2U1 chr4 108861751 108861751 - CA het . 2 +intronic CYP2U1 chr4 108861760 108861760 C T het . 2 +intronic HADH chr4 108931133 108931133 - T het . 7 +intronic HADH chr4 108935769 108935769 T - het . 14 +intronic HADH chr4 108935770 108935770 T C het . 14 +intronic HADH chr4 108935771 108935771 T C het . 14 +intergenic LEF1-AS1(dist=3951),RPL34-AS1(dist=357809) chr4 109101537 109101537 G T het . 5 +intergenic LEF1-AS1(dist=4269),RPL34-AS1(dist=357491) chr4 109101855 109101855 - G het . 3 +intergenic LEF1-AS1(dist=4274),RPL34-AS1(dist=357486) chr4 109101860 109101860 A - het . 3 +intergenic LEF1-AS1(dist=4275),RPL34-AS1(dist=357485) chr4 109101861 109101861 A G het . 3 +intergenic LEF1-AS1(dist=132924),RPL34-AS1(dist=228836) chr4 109230510 109230510 G A het . 3 +intronic COL25A1 chr4 109773001 109773001 C A het . 3 +intronic COL25A1 chr4 109789915 109789915 T A het . 6 +intronic COL25A1 chr4 109790374 109790378 AAATA - het . 16 +intronic COL25A1 chr4 109819136 109819136 A - het . 2 +intronic COL25A1 chr4 109931456 109931456 C - het . 16 +intronic COL25A1 chr4 109931457 109931457 C T het . 16 +intronic COL25A1 chr4 109938920 109938920 A G het . 1 +intronic COL25A1 chr4 109978348 109978348 C T het . 3 +intronic SEC24B chr4 110459634 110459634 T C het . 16 +intronic MCUB chr4 110608536 110608536 C T het . 3 +intronic CFI chr4 110678979 110678979 - TTTAA het . 33 +intronic CFI chr4 110679002 110679002 G T het . 31 +intronic CFI chr4 110680993 110680993 T C het . 2 +intronic CFI chr4 110681008 110681008 C A het . 2 +intronic CFI chr4 110681013 110681013 G C het . 3 +intronic CFI chr4 110681018 110681018 C A het . 3 +intronic CFI chr4 110681092 110681092 - ACAA het . 5 +intronic CFI chr4 110681121 110681121 G A het . 7 +intergenic LRIT3(dist=12042),EGF(dist=28527) chr4 110805513 110805513 C G het . 3 +intronic EGF chr4 110884221 110884221 A - het . 11 +intronic EGF chr4 110890080 110890080 C A het . 20 +intergenic ELOVL6(dist=68290),ENPEP(dist=209119) chr4 111188110 111188110 G A het . 2 +intergenic ELOVL6(dist=218989),ENPEP(dist=58420) chr4 111338809 111338809 - T het . 3 +exonic ENPEP chr4 111397851 111397851 C T het . 27 +intronic ENPEP chr4 111436741 111436741 C G het . 4 +exonic ENPEP chr4 111463961 111463961 C A het . 22 +intergenic ENPEP(dist=4958),PANCR(dist=27218) chr4 111489451 111489451 C A het . 4 +intergenic PITX2(dist=168607),FAM241A(dist=1334667) chr4 111731886 111731886 A - het . 2 +intergenic PITX2(dist=272581),FAM241A(dist=1230693) chr4 111835860 111835860 C T het . 2 +intergenic PITX2(dist=272584),FAM241A(dist=1230690) chr4 111835863 111835863 C A het . 2 +intergenic PITX2(dist=311495),FAM241A(dist=1191779) chr4 111874774 111874774 T A het . 3 +intergenic PITX2(dist=462095),FAM241A(dist=1041178) chr4 112025374 112025375 TT - het . 4 +intergenic PITX2(dist=462116),FAM241A(dist=1041152) chr4 112025395 112025401 TTTTCTT - het . 2 +intergenic PITX2(dist=496611),FAM241A(dist=1006663) chr4 112059890 112059890 G T het . 3 +intergenic PITX2(dist=570837),FAM241A(dist=932437) chr4 112134116 112134116 C A het . 2 +intergenic PITX2(dist=784680),FAM241A(dist=718594) chr4 112347959 112347959 G A het . 1 +intergenic PITX2(dist=794894),FAM241A(dist=708380) chr4 112358173 112358173 G A het . 2 +intergenic PITX2(dist=877037),FAM241A(dist=626237) chr4 112440316 112440316 A G het . 2 +intergenic PITX2(dist=930995),FAM241A(dist=572276) chr4 112494274 112494277 TATA - het . 2 +intergenic PITX2(dist=956540),FAM241A(dist=546734) chr4 112519819 112519819 C T het . 2 +intronic ALPK1 chr4 113346665 113346665 A G het . 3 +intronic ALPK1 chr4 113346714 113346714 T C het . 9 +intronic ZGRF1 chr4 113486045 113486045 C A het . 4 +intronic ZGRF1 chr4 113533796 113533796 T C het . 4 +intronic LARP7 chr4 113566682 113566682 G A het . 14 +intronic LARP7 chr4 113571857 113571857 A G het . 5 +intronic ANK2 chr4 113709346 113709346 C T het . 14 +intronic ANK2 chr4 113748438 113748438 A G het . 26 +intronic ANK2 chr4 113788509 113788509 C T het . 3 +intronic ANK2 chr4 113933776 113933776 A G het . 1 +intronic ANK2 chr4 114039783 114039783 G A het . 1 +intronic ANK2 chr4 114039792 114039792 C A het . 2 +intronic ANK2 chr4 114039808 114039808 C G het . 2 +intronic ANK2 chr4 114154262 114154262 G T het . 2 +intronic ANK2 chr4 114207869 114207869 T C het . 3 +intronic ANK2 chr4 114299347 114299347 A C het . 14 +intronic CAMK2D chr4 114410161 114410161 T C het . 2 +intronic CAMK2D chr4 114436142 114436142 C A het . 10 +intronic ARSJ chr4 114830352 114830352 G A het . 2 +intergenic ARSJ(dist=249670),UGT8(dist=369010) chr4 115150548 115150548 A G het . 1 +intergenic ARSJ(dist=515370),UGT8(dist=103310) chr4 115416248 115416248 G A het . 3 +intergenic ARSJ(dist=515376),UGT8(dist=103304) chr4 115416254 115416254 T C het . 3 +intergenic ARSJ(dist=515400),UGT8(dist=103280) chr4 115416278 115416278 G C het . 2 +exonic UGT8 chr4 115544401 115544401 C A het . 19 +intronic UGT8 chr4 115586973 115586973 T - het . 8 +intergenic NDST4(dist=92647),MIR1973(dist=1093202) chr4 116127679 116127679 A G het . 5 +intergenic NDST4(dist=151119),MIR1973(dist=1034730) chr4 116186151 116186151 T C het . 3 +intergenic NDST4(dist=402904),MIR1973(dist=782945) chr4 116437936 116437936 A G het . 1 +intergenic NDST4(dist=479685),MIR1973(dist=706164) chr4 116514717 116514717 G A het . 2 +intergenic NDST4(dist=681978),MIR1973(dist=503871) chr4 116717010 116717010 G A het . 2 +intergenic NDST4(dist=929495),MIR1973(dist=256354) chr4 116964527 116964527 T C het . 3 +intergenic NDST4(dist=1022987),MIR1973(dist=162862) chr4 117058019 117058019 A - het . 4 +intergenic NDST4(dist=1023020),MIR1973(dist=162829) chr4 117058052 117058052 - AACAA het . 2 +intergenic NDST4(dist=1116533),MIR1973(dist=69316) chr4 117151565 117151565 C T het . 2 +intergenic MIR1973(dist=19856),TRAM1L1(dist=763930) chr4 117240780 117240780 C T het . 2 +intergenic MIR1973(dist=19867),TRAM1L1(dist=763919) chr4 117240791 117240791 C G het . 2 +intergenic MIR1973(dist=24506),TRAM1L1(dist=759280) chr4 117245430 117245430 C T het . 1 +intergenic MIR1973(dist=70883),TRAM1L1(dist=712903) chr4 117291807 117291807 G A het . 2 +intergenic MIR1973(dist=337351),TRAM1L1(dist=446435) chr4 117558275 117558275 G C het . 2 +intergenic MIR1973(dist=382311),TRAM1L1(dist=401475) chr4 117603235 117603235 A G het . 8 +intergenic MIR1973(dist=382335),TRAM1L1(dist=401451) chr4 117603259 117603259 T C het . 7 +intergenic MIR1973(dist=447470),TRAM1L1(dist=336316) chr4 117668394 117668394 G T het . 2 +intergenic MIR1973(dist=651276),TRAM1L1(dist=132510) chr4 117872200 117872200 A G het . 1 +intergenic TRAM1L1(dist=138129),LINC02262(dist=90888) chr4 118144865 118144865 G A het . 1 +intergenic LINC01378(dist=48218),LINC02264(dist=97080) chr4 118658476 118658476 C T het . 2 +intergenic LINC02264(dist=121264),NDST3(dist=43133) chr4 118912367 118912367 T - het . 2 +intronic NDST3 chr4 119064668 119064668 G A het . 11 +intronic PRSS12 chr4 119227953 119227953 G A het . 2 +intronic PRSS12 chr4 119237522 119237522 A - het . 13 +intronic PRSS12 chr4 119239900 119239900 C A het . 12 +intergenic PRSS12(dist=62603),CEP170P1(dist=100970) chr4 119336525 119336525 C A het . 2 +ncRNA_exonic LOC729218 chr4 119552849 119552849 C T het . 3 +ncRNA_intronic LOC101929741 chr4 119591979 119591979 G A het . 9 +ncRNA_intronic LOC101929741 chr4 119591983 119591983 A G het . 9 +intronic SEC24D chr4 119653822 119653822 G C het . 2 +intronic SEC24D chr4 119661552 119661552 G C het . 2 +intronic SEC24D chr4 119674051 119674051 - A het . 7 +intronic SYNPO2 chr4 119861121 119861121 C T het . 3 +intronic SYNPO2 chr4 119861151 119861151 T - het . 2 +intronic MYOZ2 chr4 120074687 120074687 G A het . 2 +ncRNA_exonic LOC101929762 chr4 120133712 120133712 G A het . 12 +intronic USP53 chr4 120180790 120180790 T C het . 4 +intronic USP53 chr4 120187868 120187868 A T het . 1 +exonic USP53 chr4 120192625 120192625 C A het . 20 +intronic USP53 chr4 120194718 120194718 - T het . 7 +intronic C4orf3 chr4 120220085 120220085 - AAAC het . 12 +intronic FABP2 chr4 120240805 120240805 A C het . 9 +intergenic FABP2(dist=55232),LINC01061(dist=28130) chr4 120298548 120298548 C T het . 6 +intergenic FABP2(dist=55260),LINC01061(dist=28100) chr4 120298576 120298578 TTG - het . 7 +intergenic FABP2(dist=81231),LINC01061(dist=2129) chr4 120324547 120324549 CTC - het . 4 +intronic PDE5A chr4 120432447 120432447 T C het . 4 +intronic PDE5A chr4 120517491 120517491 C T het . 3 +intronic PDE5A chr4 120543998 120543998 A G het . 2 +intronic PDE5A chr4 120547986 120547987 TT GA het . 2 +upstream PDE5A(dist=161) chr4 120550142 120550144 GCA - het . 6 +intergenic PDE5A(dist=57727),LINC01365(dist=112553) chr4 120607708 120607708 G T het . 3 +intergenic PDE5A(dist=94090),LINC01365(dist=76190) chr4 120644071 120644071 G A het . 2 +intergenic LINC01365(dist=52588),LINC02502(dist=82437) chr4 120778258 120778258 G A het . 2 +UTR3 MAD2L1(NM_002358:c.*59A>G) chr4 120981214 120981214 T C het . 7 +intergenic MAD2L1(dist=521252),PRDM5(dist=103803) chr4 121509265 121509265 A T het . 2 +intergenic MAD2L1(dist=521256),PRDM5(dist=103799) chr4 121509269 121509269 A T het . 2 +intergenic MAD2L1(dist=521260),PRDM5(dist=103795) chr4 121509273 121509273 A T het . 2 +intronic PRDM5 chr4 121723110 121723110 C T het . 2 +intronic PRDM5 chr4 121828519 121828519 C T het . 4 +intergenic PRDM5(dist=18873),NDNF(dist=93888) chr4 121862894 121862894 - C het . 4 +intronic TNIP3 chr4 122053911 122053911 A - het . 11 +intergenic TNIP3(dist=61825),QRFPR(dist=39351) chr4 122210446 122210446 T C het . 3 +splicing QRFPR(NM_198179:exon4:c.797+2T>G) chr4 122253974 122253974 A C het . 14 +intergenic QRFPR(dist=113892),ANXA5(dist=173079) chr4 122416073 122416073 C T het . 2 +intergenic QRFPR(dist=117758),ANXA5(dist=169213) chr4 122419939 122419939 G T het . 2 +intergenic QRFPR(dist=199799),ANXA5(dist=87172) chr4 122501980 122501980 T C het . 2 +intergenic QRFPR(dist=199840),ANXA5(dist=87128) chr4 122502021 122502024 TTTA - het . 2 +intergenic QRFPR(dist=199922),ANXA5(dist=87049) chr4 122502103 122502103 A G het . 2 +intergenic QRFPR(dist=235933),ANXA5(dist=51038) chr4 122538114 122538114 A C het . 2 +intergenic QRFPR(dist=260308),ANXA5(dist=26663) chr4 122562489 122562489 G T het . 3 +intronic ANXA5 chr4 122599249 122599249 G A het . 3 +intergenic PP12613(dist=14465),EXOSC9(dist=20044) chr4 122702428 122702428 A G het . 2 +intergenic PP12613(dist=14496),EXOSC9(dist=20013) chr4 122702459 122702459 T C het . 2 +intronic EXOSC9 chr4 122731061 122731061 C A het . 12 +intergenic TRPC3(dist=126543),KIAA1109(dist=92306) chr4 122999452 122999452 T C het . 3 +intronic KIAA1109 chr4 123122147 123122151 TAACA - het . 15 +exonic KIAA1109 chr4 123145660 123145660 C A het . 2 +intronic SPATA5 chr4 123889757 123889757 C T het . 1 +intronic SPATA5 chr4 124000989 124000989 C A het . 2 +intronic SPATA5 chr4 124048283 124048283 T C het . 2 +intronic SPATA5 chr4 124114871 124114871 G A het . 2 +intergenic SPRY1(dist=76672),LINC01091(dist=169556) chr4 124401587 124401590 TTAT - het . 2 +intergenic SPRY1(dist=77901),LINC01091(dist=168330) chr4 124402816 124402816 A C het . 3 +intergenic SPRY1(dist=232268),LINC01091(dist=13963) chr4 124557183 124557183 T C het . 1 +intergenic LINC01091(dist=87769),LINC02516(dist=481395) chr4 124939702 124939702 T - het . 3 +intergenic LINC01091(dist=368561),LINC02516(dist=200603) chr4 125220494 125220494 C T het . 2 +intergenic LINC01091(dist=546055),LINC02516(dist=23109) chr4 125397988 125397988 T C het . 2 +intergenic ANKRD50(dist=168539),FAT4(dist=435141) chr4 125802426 125802426 C T het . 1 +intergenic ANKRD50(dist=302766),FAT4(dist=300914) chr4 125936653 125936653 A C het . 2 +intergenic ANKRD50(dist=393669),FAT4(dist=210011) chr4 126027556 126027556 C T het . 2 +intronic FAT4 chr4 126246475 126246475 C T het . 2 +intronic FAT4 chr4 126319751 126319751 G A het . 2 +exonic FAT4 chr4 126328133 126328133 G A het . 44 +exonic FAT4 chr4 126372665 126372665 C T het . 15 +exonic FAT4 chr4 126411199 126411199 C T het . 15 +intergenic MIR2054(dist=61240),NONE(dist=NONE) chr4 126489702 126489702 C - het . 5 +intergenic MIR2054(dist=61241),NONE(dist=NONE) chr4 126489703 126489703 C A het . 5 +intergenic MIR2054(dist=84078),INTU(dist=2041547) chr4 126512540 126512540 C T het . 2 +intergenic MIR2054(dist=231347),INTU(dist=1894278) chr4 126659809 126659809 C A het . 2 +intergenic MIR2054(dist=231366),INTU(dist=1894259) chr4 126659828 126659828 T C het . 2 +intergenic MIR2054(dist=1045623),INTU(dist=1080002) chr4 127474085 127474085 T C het . 2 +intergenic MIR2054(dist=1239301),INTU(dist=886324) chr4 127667763 127667763 C G het . 2 +intergenic MIR2054(dist=1486640),INTU(dist=638985) chr4 127915102 127915102 G T het . 3 +intergenic MIR2054(dist=1565232),INTU(dist=560393) chr4 127993694 127993694 A - het . 4 +intergenic MIR2054(dist=1664909),INTU(dist=460716) chr4 128093371 128093371 G A het . 4 +intergenic MIR2054(dist=1676478),INTU(dist=449147) chr4 128104940 128104940 T G het . 4 +intergenic MIR2054(dist=2056693),INTU(dist=68932) chr4 128485155 128485155 A C het . 2 +intergenic NONE(dist=NONE),INTU(dist=9391) chr4 128544696 128544696 A G het . 2 +exonic INTU chr4 128628120 128628120 T C het . 4 +intronic PLK4 chr4 128814426 128814426 T - het . 7 +intronic ABHD18 chr4 128932635 128932635 T - het . 7 +intronic LARP1B chr4 129043601 129043601 - G het . 16 +intronic LARP1B chr4 129043614 129043614 G T het . 13 +intronic LARP1B chr4 129043617 129043617 T G het . 13 +intronic LARP1B chr4 129073715 129073720 TTTTTA - het . 2 +intronic LARP1B chr4 129130877 129130877 A G het . 3 +intronic PGRMC2 chr4 129200363 129200363 - A het . 2 +intergenic PGRMC2(dist=120986),LOC100507487(dist=18201) chr4 129330970 129330970 C T het . 2 +ncRNA_intronic LOC100507487 chr4 129389738 129389738 A G het . 2 +intergenic LOC100507487(dist=243393),JADE1(dist=46834) chr4 129683944 129683944 - ATTTAAA het . 2 +intergenic LOC100507487(dist=243397),JADE1(dist=46830) chr4 129683948 129683948 - ATAA het . 2 +intergenic LOC100507487(dist=243398),JADE1(dist=46829) chr4 129683949 129683949 G A het . 2 +intronic SCLT1 chr4 129842433 129842433 C T het . 3 +intronic SCLT1 chr4 129842449 129842449 C A het . 3 +intergenic C4orf33(dist=151608),LINC02466(dist=459875) chr4 130185451 130185451 G C het . 1 +intergenic C4orf33(dist=238812),LINC02466(dist=372671) chr4 130272655 130272655 T C het . 1 +intergenic C4orf33(dist=300063),LINC02466(dist=311420) chr4 130333906 130333906 T A het . 2 +intergenic C4orf33(dist=547185),LINC02466(dist=64298) chr4 130581028 130581028 C T het . 2 +intergenic C4orf33(dist=571635),LINC02466(dist=39848) chr4 130605478 130605478 T C het . 2 +ncRNA_intronic LINC02465 chr4 130829416 130829416 G T het . 2 +intergenic LINC02479(dist=19827),SNHG27(dist=1356940) chr4 131329053 131329053 - T het . 3 +intergenic LINC02479(dist=47864),SNHG27(dist=1328903) chr4 131357090 131357090 A T het . 1 +intergenic LINC02479(dist=149521),SNHG27(dist=1227246) chr4 131458747 131458747 G - het . 2 +intergenic LINC02479(dist=149526),SNHG27(dist=1227241) chr4 131458752 131458752 G T het . 2 +intergenic LINC02479(dist=332108),SNHG27(dist=1044659) chr4 131641334 131641334 C T het . 2 +intergenic LINC02479(dist=493870),SNHG27(dist=882897) chr4 131803096 131803096 G A het . 1 +intergenic LINC02479(dist=493873),SNHG27(dist=882894) chr4 131803099 131803099 G C het . 1 +intergenic LINC02479(dist=493886),SNHG27(dist=882881) chr4 131803112 131803112 G A het . 2 +intergenic LINC02479(dist=522578),SNHG27(dist=854189) chr4 131831804 131831804 T A het . 1 +intergenic LINC02479(dist=539635),SNHG27(dist=837132) chr4 131848861 131848861 A G het . 1 +intergenic LINC02479(dist=853820),SNHG27(dist=522945) chr4 132163046 132163048 TTG - het . 2 +intergenic LINC02479(dist=1026246),SNHG27(dist=350521) chr4 132335472 132335472 A G het . 1 +intergenic LINC02479(dist=1144835),SNHG27(dist=231932) chr4 132454061 132454061 C T het . 2 +intergenic LINC02479(dist=1151868),SNHG27(dist=224899) chr4 132461094 132461094 G A het . 2 +intergenic LINC02479(dist=1214679),SNHG27(dist=162088) chr4 132523905 132523905 C A het . 1 +intergenic SNHG27(dist=237021),LINC01256(dist=562586) chr4 132949658 132949658 C A het . 2 +intergenic SNHG27(dist=463688),LINC01256(dist=335919) chr4 133176325 133176325 G A het . 1 +intergenic SNHG27(dist=542679),LINC01256(dist=256928) chr4 133255316 133255316 G A het . 2 +intergenic SNHG27(dist=756720),LINC01256(dist=42887) chr4 133469357 133469357 T A het . 4 +ncRNA_intronic LINC01256 chr4 133588452 133588452 G A het . 2 +intergenic LINC01256(dist=214032),LOC101927359(dist=201329) chr4 133813687 133813687 A C het . 2 +intergenic LINC01256(dist=214040),LOC101927359(dist=201321) chr4 133813695 133813695 G A het . 2 +intergenic LINC01256(dist=217255),LOC101927359(dist=198106) chr4 133816910 133816910 A C het . 4 +intergenic LINC01256(dist=217258),LOC101927359(dist=198103) chr4 133816913 133816913 A - het . 4 +intergenic PCDH10(dist=24375),PABPC4L(dist=977348) chr4 134140140 134140140 C A het . 2 +intergenic PCDH10(dist=67885),PABPC4L(dist=933838) chr4 134183650 134183650 C A het . 2 +intergenic PCDH10(dist=953140),PABPC4L(dist=48581) chr4 135068905 135068907 TGT - het . 1 +intergenic PCDH10(dist=994472),PABPC4L(dist=7251) chr4 135110237 135110237 G C het . 1 +intergenic PABPC4L(dist=182202),LINC02462(dist=39877) chr4 135305146 135305146 T A het . 2 +intergenic PABPC4L(dist=187385),LINC02462(dist=34694) chr4 135310329 135310329 T C het . 1 +intergenic PABPC4L(dist=198368),LINC02462(dist=23711) chr4 135321312 135321312 C T het . 1 +ncRNA_intronic LINC02462 chr4 135353524 135353524 T G het . 2 +ncRNA_intronic LINC02462 chr4 135368899 135368899 T A het . 3 +ncRNA_intronic LINC02462 chr4 135444215 135444215 A C het . 1 +intergenic LINC02462(dist=406135),LINC02485(dist=161446) chr4 135872794 135872794 T G het . 2 +intergenic LINC02462(dist=437956),LINC02485(dist=129625) chr4 135904615 135904615 C T het . 1 +intergenic LINC02462(dist=500273),LINC02485(dist=67308) chr4 135966932 135966932 G A het . 4 +intergenic LINC02462(dist=500295),LINC02485(dist=67286) chr4 135966954 135966954 T C het . 6 +ncRNA_intronic LINC00613 chr4 136810719 136810719 C T het . 2 +intergenic LINC00613(dist=42099),LINC02511(dist=840123) chr4 136876934 136876934 C T het . 7 +intergenic LINC00613(dist=442178),LINC02511(dist=440044) chr4 137277013 137277013 C A het . 28 +intergenic LINC00613(dist=602051),LINC02511(dist=280171) chr4 137436886 137436886 C A het . 2 +ncRNA_intronic LINC02511 chr4 137742540 137742540 A C het . 2 +ncRNA_intronic LINC02511 chr4 137755386 137755386 - A het . 2 +ncRNA_intronic LINC02511 chr4 137778050 137778050 - C het . 3 +ncRNA_intronic LINC02511 chr4 137965797 137965797 T - het . 3 +ncRNA_intronic LINC02511 chr4 138047987 138047987 G T het . 2 +intergenic LINC02511(dist=23094),PCDH18(dist=283026) chr4 138157047 138157047 A G het . 2 +intergenic LINC02511(dist=209433),PCDH18(dist=96687) chr4 138343386 138343386 T C het . 1 +ncRNA_intronic LINC02172 chr4 138497150 138497150 G T het . 3 +intergenic LINC02172(dist=59250),LINC00616(dist=364743) chr4 138583834 138583834 A - het . 2 +intergenic LINC02172(dist=378823),LINC00616(dist=45170) chr4 138903407 138903407 T - het . 2 +intronic SLC7A11 chr4 139143730 139143730 C T het . 2 +intronic SLC7A11 chr4 139157719 139157719 G A het . 2 +ncRNA_intronic LINC00499 chr4 139293393 139293393 G A het . 3 +intergenic LINC00499(dist=112424),LOC105377448(dist=283189) chr4 139457922 139457922 T C het . 2 +intronic ELF2 chr4 140036422 140036422 T C het . 3 +intronic NAA15 chr4 140283103 140283103 A - het . 8 +intergenic NAA15(dist=22496),RAB33B(dist=40529) chr4 140334431 140334432 TG - het . 2 +UTR3 SETD7(NM_001306199:c.*36C>A) chr4 140417471 140417471 G T het . 2 +intronic SETD7 chr4 140438630 140438644 AAAAAAAAAAAAAAA - het . 2 +intergenic SETD7(dist=84333),MGST2(dist=24666) chr4 140562256 140562256 G A het . 1 +intronic MGST2 chr4 140587263 140587263 C T het . 12 +intronic MGST2 chr4 140598999 140598999 G A het . 3 +intronic MAML3,MGST2 chr4 140644267 140644267 G T het . 3 +intronic MAML3,MGST2 chr4 140644273 140644273 G T het . 3 +intronic MAML3 chr4 140726102 140726102 A C het . 2 +intronic MAML3 chr4 140759091 140759091 - AAG het . 2 +intronic MAML3 chr4 140759099 140759100 AC - het . 3 +intronic MAML3 chr4 140759122 140759122 G A het . 2 +intronic MAML3 chr4 140810334 140810334 T C het . 18 +exonic MAML3 chr4 140810541 140810541 C A het . 19 +intronic MAML3 chr4 140847579 140847579 C G het . 2 +intronic CLGN chr4 141334065 141334065 T C het . 18 +exonic MGAT4D chr4 141396091 141396091 G A het . 5 +intronic ELMOD2 chr4 141448596 141448598 TTT - het . 13 +intronic ELMOD2 chr4 141448705 141448705 - A het . 7 +intronic ELMOD2 chr4 141463680 141463680 C A het . 16 +intronic UCP1 chr4 141484372 141484372 A - het . 41 +intronic UCP1 chr4 141484766 141484766 T - het . 20 +intronic RNF150 chr4 141801823 141801823 G T het . 2 +intronic RNF150 chr4 141847279 141847279 G A het . 4 +intergenic RNF150(dist=57894),ZNF330(dist=29531) chr4 142112510 142112510 C G het . 2 +intergenic ZNF330(dist=28978),LINC02432(dist=57450) chr4 142184828 142184828 C A het . 2 +intergenic ZNF330(dist=56121),LINC02432(dist=30307) chr4 142211971 142211971 - T het . 2 +intergenic IL15(dist=270625),INPP4B(dist=18548) chr4 142925765 142925765 A T het . 2 +intronic INPP4B chr4 143003155 143003155 - A het . 8 +intronic INPP4B chr4 143007169 143007169 C A het . 3 +intronic INPP4B chr4 143007197 143007197 C T het . 4 +exonic INPP4B chr4 143045853 143045853 A G het . 3 +intronic INPP4B chr4 143066884 143066884 A G het . 13 +intronic INPP4B chr4 143066926 143066926 T - het . 16 +intronic INPP4B chr4 143095042 143095042 A C het . 10 +intronic INPP4B chr4 143181484 143181484 G A het . 7 +intronic INPP4B chr4 143181748 143181748 T A het . 15 +intronic INPP4B chr4 143305702 143305702 T C het . 2 +intergenic INPP4B(dist=161547),LOC105377623(dist=169578) chr4 143929235 143929235 C T het . 2 +intergenic INPP4B(dist=304972),LOC105377623(dist=26153) chr4 144072660 144072660 G A het . 6 +intronic USP38 chr4 144125549 144125549 - T het . 9 +intronic GAB1 chr4 144295040 144295040 T A het . 2 +intronic SMARCA5 chr4 144461871 144461871 C T het . 1 +intronic SMARCA5 chr4 144469383 144469383 A G het . 3 +intronic SMARCA5 chr4 144471036 144471036 A - het . 4 +UTR3 SMARCA5(NM_003601:c.*1925A>G) chr4 144476262 144476262 A G het . 12 +intronic GYPE chr4 144824269 144824269 C T het . 6 +intronic GYPE chr4 144824273 144824273 C T het . 4 +intronic GYPB chr4 144922549 144922549 G A het . 11 +intergenic GYPB(dist=35163),GYPA(dist=54795) chr4 144975661 144975661 C G het . 1 +intergenic GYPB(dist=35177),GYPA(dist=54781) chr4 144975675 144975675 T C het . 2 +intronic GYPA chr4 145035068 145035071 AATA - het . 3 +intronic GYPA chr4 145037980 145037980 C G het . 2 +intergenic GYPA(dist=72046),HHIP-AS1(dist=430083) chr4 145133985 145133985 G T het . 2 +intergenic GYPA(dist=259067),HHIP-AS1(dist=243062) chr4 145321006 145321006 A G het . 1 +intergenic GYPA(dist=298149),HHIP-AS1(dist=203980) chr4 145360088 145360088 G T het . 3 +intronic HHIP chr4 145580290 145580290 C A het . 4 +exonic HHIP chr4 145635480 145635480 C A het . 32 +intergenic HHIP(dist=2414),ANAPC10(dist=253432) chr4 145662295 145662295 A - het . 3 +intergenic HHIP(dist=2416),ANAPC10(dist=253430) chr4 145662297 145662297 A T het . 3 +intergenic HHIP(dist=19074),ANAPC10(dist=236772) chr4 145678955 145678955 A - het . 2 +intergenic HHIP(dist=84565),ANAPC10(dist=171281) chr4 145744446 145744446 T C het . 2 +intergenic HHIP(dist=207080),ANAPC10(dist=48766) chr4 145866961 145866961 C T het . 2 +intergenic HHIP(dist=224590),ANAPC10(dist=31256) chr4 145884471 145884471 T A het . 2 +intronic ANAPC10 chr4 146018573 146018573 C A het . 5 +intronic ABCE1 chr4 146031237 146031237 T - het . 8 +exonic ABCE1 chr4 146031258 146031258 C A het . 12 +exonic OTUD4 chr4 146077132 146077132 C T het . 23 +UTR3 OTUD4(NM_017493:c.*73delA) chr4 146080578 146080578 T - het . 10 +intergenic OTUD4(dist=87642),LINC02266(dist=67941) chr4 146188474 146188474 A C het . 2 +intergenic LINC02266(dist=35816),SMAD1(dist=105071) chr4 146297387 146297387 - AA het . 12 +intergenic LINC02266(dist=35846),SMAD1(dist=105041) chr4 146297417 146297417 C T het . 10 +intergenic LINC02266(dist=35853),SMAD1(dist=105034) chr4 146297424 146297424 G C het . 11 +intergenic LINC02266(dist=77088),SMAD1(dist=63799) chr4 146338659 146338659 - AAG het . 5 +intronic SMAD1 chr4 146463966 146463966 T C het . 9 +intronic MMAA chr4 146545110 146545110 - G het . 4 +intergenic C4orf51(dist=9442),ZNF827(dist=15389) chr4 146663390 146663390 C T het . 3 +intergenic ZNF827(dist=68548),LINC01095(dist=101947) chr4 146928660 146928660 T - het . 2 +intergenic ZNF827(dist=137436),LINC01095(dist=33059) chr4 146997548 146997548 G A het . 1 +UTR3 TTC29(NM_031956:c.*29G>A,NM_001317806:c.*29G>A,NM_001300761:c.*29G>A) chr4 147628281 147628281 C T het . 24 +intergenic TTC29(dist=98684),EDNRA(dist=436342) chr4 147965722 147965727 AAAAAA - het . 2 +intergenic TTC29(dist=184414),EDNRA(dist=350617) chr4 148051452 148051452 A G het . 2 +intergenic TTC29(dist=219997),EDNRA(dist=315034) chr4 148087035 148087035 T - het . 5 +intergenic TTC29(dist=513094),EDNRA(dist=21937) chr4 148380132 148380132 T G het . 4 +intronic EDNRA chr4 148457009 148457009 - TC het . 8 +intronic PRMT9 chr4 148604884 148604884 C G het . 3 +intronic PRMT9 chr4 148604886 148604886 G A het . 3 +intergenic PRMT9(dist=46065),ARHGAP10(dist=2007) chr4 148651446 148651446 C T het . 2 +intronic ARHGAP10 chr4 148787669 148787669 G A het . 3 +intronic ARHGAP10 chr4 148827697 148827697 - A het . 7 +intronic ARHGAP10 chr4 148886160 148886160 T - het . 9 +UTR3 NR3C2(NM_001354819:c.*478delA,NM_001166104:c.*478delA,NM_000901:c.*478delA) chr4 149002017 149002017 T - het . 8 +intronic NR3C2 chr4 149076195 149076195 A G het . 9 +intronic NR3C2 chr4 149199264 149199264 G - het . 5 +intronic NR3C2 chr4 149199266 149199268 TTG - het . 5 +intronic NR3C2 chr4 149269088 149269088 A G het . 2 +intronic NR3C2 chr4 149303212 149303212 G A het . 1 +intronic IQCM chr4 150370999 150370999 C G het . 2 +intronic IQCM chr4 150390444 150390444 G A het . 1 +intronic IQCM chr4 150442427 150442427 C A het . 2 +intronic IQCM chr4 150494922 150494922 A - het . 2 +intronic IQCM chr4 150541530 150541530 A - het . 8 +intronic DCLK2 chr4 151078642 151078645 TTTG - het . 5 +intronic DCLK2 chr4 151113359 151113359 A G het . 1 +intronic DCLK2 chr4 151138020 151138020 T C het . 3 +intronic DCLK2 chr4 151160864 151160864 C G het . 8 +intronic DCLK2 chr4 151161490 151161490 T C het . 4 +intronic DCLK2 chr4 151161502 151161502 G T het . 4 +intronic DCLK2 chr4 151166237 151166237 C T het . 1 +exonic DCLK2 chr4 151177340 151177341 CC TG het . 7 +intronic LRBA chr4 151302893 151302893 C T het . 1 +intronic LRBA chr4 151336754 151336754 T A het . 8 +intronic LRBA chr4 151344325 151344325 G A het . 3 +intronic LRBA chr4 151894300 151894300 - TGTT het . 7 +intergenic LRBA(dist=42817),RPS3A(dist=41259) chr4 151979466 151979466 - AAAG het . 5 +intergenic LRBA(dist=45949),RPS3A(dist=38127) chr4 151982598 151982598 G A het . 3 +intergenic LRBA(dist=68725),RPS3A(dist=15351) chr4 152005374 152005374 T A het . 2 +UTR3 RPS3A(NM_001267699:c.*1240_*1241insCTTAT) chr4 152025273 152025273 - CTTAT het . 8 +intronic SH3D19 chr4 152048936 152048936 A T het . 6 +intronic SH3D19 chr4 152053550 152053550 C T het . 24 +exonic SH3D19 chr4 152054367 152054367 C A het . 20 +exonic PRSS48 chr4 152201018 152201018 - CAGGT het . 11 +exonic PRSS48 chr4 152201053 152201053 G A het . 12 +intronic FAM160A1 chr4 152333840 152333840 T - het . 2 +intronic GATB chr4 152592469 152592469 - TTAC het . 11 +intronic GATB chr4 152626516 152626516 A - het . 11 +intergenic GATB(dist=237005),LINC02273(dist=102725) chr4 152919180 152919180 A C het . 1 +exonic TIGD4 chr4 153691455 153691455 T C het . 25 +intronic TRIM2 chr4 154157749 154157749 C T het . 3 +intronic TRIM2 chr4 154179016 154179016 T C het . 2 +intronic MND1 chr4 154330065 154330066 TA - het . 8 +intronic TMEM131L chr4 154457298 154457298 C A het . 2 +intronic TMEM131L chr4 154478287 154478287 G T het . 10 +intronic TMEM131L chr4 154542814 154542814 G T het . 3 +intronic RNF175 chr4 154641579 154641580 TG - het . 4 +intergenic SFRP2(dist=130894),DCHS2(dist=314405) chr4 154841122 154841122 - A het . 3 +intronic DCHS2 chr4 155236778 155236778 C G het . 3 +intronic DCHS2 chr4 155242505 155242505 G T het . 4 +exonic DCHS2 chr4 155244475 155244475 G T het . 18 +intronic DCHS2 chr4 155244487 155244487 A - het . 11 +intronic DCHS2 chr4 155244671 155244671 G T het . 2 +intronic DCHS2 chr4 155405543 155405543 T - het . 2 +intergenic DCHS2(dist=28494),PLRG1(dist=14778) chr4 155441371 155441371 C T het . 2 +intergenic DCHS2(dist=31881),PLRG1(dist=11391) chr4 155444758 155444758 A G het . 1 +exonic FGA chr4 155507999 155507999 C A het . 22 +intergenic FGG(dist=87063),LRAT(dist=40969) chr4 155621023 155621024 GG TA het . 2 +intergenic FGG(dist=90106),LRAT(dist=37927) chr4 155624066 155624066 T A het . 3 +intergenic RBM46(dist=260434),NPY2R(dist=119381) chr4 156010399 156010400 TT - het . 2 +UTR3 MAP9(NM_001039580:c.*1991C>T) chr4 156266944 156266944 G A het . 2 +intergenic MAP9(dist=149347),GUCY1A1(dist=140393) chr4 156447469 156447469 A G het . 2 +intergenic MAP9(dist=204326),GUCY1A1(dist=85414) chr4 156502448 156502448 T A het . 1 +intergenic GUCY1A1(dist=14519),GUCY1B1(dist=7392) chr4 156672733 156672733 T C het . 2 +intergenic GUCY1A1(dist=14524),GUCY1B1(dist=7387) chr4 156672738 156672738 G A het . 2 +intergenic GUCY1A1(dist=17394),GUCY1B1(dist=4517) chr4 156675608 156675608 A C het . 2 +intergenic GUCY1A1(dist=17404),GUCY1B1(dist=4507) chr4 156675618 156675618 G A het . 1 +intronic GUCY1B1 chr4 156695954 156695954 C A het . 12 +intronic GUCY1B1 chr4 156696022 156696022 C A het . 10 +exonic GUCY1B1 chr4 156723540 156723540 C A het . 29 +UTR3 ASIC5(NM_017419:c.*75C>G) chr4 156750933 156750933 G C het . 5 +UTR3 ASIC5(NM_017419:c.*49A>C) chr4 156750959 156750959 T G het . 6 +intronic ASIC5 chr4 156787214 156787214 A G het . 5 +intronic CTSO chr4 156847230 156847230 A G het . 15 +intronic CTSO chr4 156847238 156847238 G - het . 14 +intergenic CTSO(dist=3416),PDGFC(dist=804299) chr4 156878464 156878464 T C het . 1 +intergenic CTSO(dist=3418),PDGFC(dist=804297) chr4 156878466 156878466 T C het . 1 +intergenic CTSO(dist=589024),PDGFC(dist=218691) chr4 157464072 157464072 A G het . 2 +intergenic CTSO(dist=637941),PDGFC(dist=169774) chr4 157512989 157512989 G T het . 5 +intergenic CTSO(dist=637955),PDGFC(dist=169755) chr4 157513003 157513008 TCATCA - het . 4 +intergenic CTSO(dist=681079),PDGFC(dist=126635) chr4 157556127 157556128 CC AG het . 5 +intergenic CTSO(dist=681089),PDGFC(dist=126626) chr4 157556137 157556137 C A het . 4 +exonic PDGFC chr4 157891943 157891943 T C het . 13 +intergenic PDGFC(dist=13213),GLRB(dist=91518) chr4 157905759 157905759 A T het . 2 +intergenic PDGFC(dist=64991),GLRB(dist=39740) chr4 157957537 157957537 A G het . 2 +intronic GLRB chr4 158043828 158043828 G T het . 4 +intergenic GRIA2(dist=20329),LINC02433(dist=186086) chr4 158307555 158307556 AA CG het . 28 +intergenic GRIA2(dist=135769),LINC02433(dist=70647) chr4 158422995 158422995 - TAC het . 1 +intergenic GRIA2(dist=163521),LINC02433(dist=42895) chr4 158450747 158450747 - CCATTT het . 2 +intergenic GRIA2(dist=163523),LINC02433(dist=42893) chr4 158450749 158450749 - T het . 2 +intergenic GRIA2(dist=163547),LINC02433(dist=42869) chr4 158450773 158450773 C G het . 2 +intergenic LINC02433(dist=64556),FAM198B(dist=483873) chr4 158561859 158561859 G A het . 4 +intergenic LINC02433(dist=115338),FAM198B(dist=433088) chr4 158612641 158612644 AAAG - het . 2 +intergenic LINC02433(dist=238818),FAM198B(dist=309611) chr4 158736121 158736121 G A het . 11 +intergenic LINC02433(dist=238826),FAM198B(dist=309603) chr4 158736129 158736129 T C het . 12 +intergenic LINC02433(dist=405578),FAM198B(dist=142851) chr4 158902881 158902881 C T het . 1 +intergenic TMEM144(dist=126255),RXFP1(dist=140172) chr4 159302694 159302694 C A het . 2 +intronic RXFP1 chr4 159450399 159450399 G - het . 2 +intronic RXFP1 chr4 159450402 159450402 G - het . 2 +intronic RXFP1 chr4 159538571 159538571 - AA het . 4 +intronic RXFP1 chr4 159554322 159554322 A - het . 4 +intergenic RXFP1(dist=6261),C4orf46(dist=7045) chr4 159580782 159580782 G A het . 2 +intronic ETFDH chr4 159612468 159612468 A G het . 3 +intronic PPID chr4 159636306 159636306 G - het . 14 +exonic PPID chr4 159638248 159638249 AT - het . 22 +intergenic PPID(dist=10853),FNIP2(dist=34742) chr4 159655405 159655405 - T het . 2 +intronic C4orf45 chr4 159881230 159881230 C T het . 8 +intronic C4orf45 chr4 159884439 159884439 T - het . 2 +intronic C4orf45 chr4 159890417 159890417 A G het . 1 +intronic C4orf45 chr4 159928227 159928227 C A het . 3 +intronic C4orf45 chr4 159932906 159932906 C A het . 1 +intergenic C4orf45(dist=37979),RAPGEF2(dist=30966) chr4 159994312 159994312 G C het . 2 +intronic RAPGEF2 chr4 160153569 160153569 G T het . 3 +intronic RAPGEF2 chr4 160250879 160250879 C A het . 7 +intronic RAPGEF2 chr4 160264026 160264026 T A het . 8 +intergenic RAPGEF2(dist=80426),LINC02233(dist=225911) chr4 160361747 160361747 C T het . 1 +intergenic RAPGEF2(dist=225149),LINC02233(dist=81188) chr4 160506470 160506470 C T het . 2 +ncRNA_intronic LINC02233 chr4 160670504 160670504 A T het . 2 +ncRNA_intronic LINC02233 chr4 160680223 160680223 A - het . 2 +intergenic LINC02233(dist=3000),FSTL5(dist=1603108) chr4 160701936 160701936 C T het . 2 +intergenic LINC02233(dist=17196),FSTL5(dist=1588912) chr4 160716132 160716132 T - het . 2 +intergenic LINC02233(dist=20486),FSTL5(dist=1585622) chr4 160719422 160719422 T G het . 2 +intergenic LINC02233(dist=20496),FSTL5(dist=1585611) chr4 160719432 160719433 CC TA het . 1 +intergenic LINC02233(dist=186558),FSTL5(dist=1419550) chr4 160885494 160885494 T C het . 2 +intergenic LINC02233(dist=481308),FSTL5(dist=1124800) chr4 161180244 161180244 C T het . 1 +intergenic LINC02233(dist=515976),FSTL5(dist=1090132) chr4 161214912 161214912 G A het . 1 +intergenic LINC02233(dist=557852),FSTL5(dist=1048256) chr4 161256788 161256788 G A het . 1 +intergenic LINC02233(dist=657411),FSTL5(dist=948697) chr4 161356347 161356347 A G het . 2 +intergenic LINC02233(dist=761837),FSTL5(dist=844271) chr4 161460773 161460773 C A het . 1 +intergenic LINC02233(dist=787238),FSTL5(dist=818870) chr4 161486174 161486174 - T het . 2 +intergenic LINC02233(dist=796239),FSTL5(dist=809869) chr4 161495175 161495175 A G het . 2 +intergenic LINC02233(dist=817845),FSTL5(dist=788263) chr4 161516781 161516781 C T het . 2 +intergenic LINC02233(dist=1036282),FSTL5(dist=569826) chr4 161735218 161735218 C T het . 2 +intergenic LINC02233(dist=1379319),FSTL5(dist=226789) chr4 162078255 162078255 A C het . 1 +intergenic LINC02233(dist=1379341),FSTL5(dist=226767) chr4 162078277 162078277 A T het . 1 +intronic FSTL5 chr4 162443018 162443018 A - het . 1 +intronic FSTL5 chr4 162443036 162443036 G A het . 2 +intronic FSTL5 chr4 162611902 162611902 T C het . 1 +intronic FSTL5 chr4 162715964 162715964 G C het . 2 +intronic FSTL5 chr4 162811765 162811765 G A het . 2 +intronic FSTL5 chr4 163081951 163081951 C T het . 2 +intergenic FSTL5(dist=236227),MIR4454(dist=693312) chr4 163321413 163321414 CC AT het . 2 +intergenic FSTL5(dist=406623),MIR4454(dist=522917) chr4 163491809 163491809 T C het . 1 +intergenic FSTL5(dist=419515),MIR4454(dist=510021) chr4 163504701 163504705 TTTGT - het . 3 +intergenic FSTL5(dist=536341),MIR4454(dist=393199) chr4 163621527 163621527 T G het . 1 +intergenic FSTL5(dist=536351),MIR4454(dist=393189) chr4 163621537 163621537 A G het . 2 +intergenic FSTL5(dist=755598),MIR4454(dist=173942) chr4 163840784 163840784 C A het . 2 +intergenic FSTL5(dist=770427),MIR4454(dist=159113) chr4 163855613 163855613 C T het . 1 +intergenic FSTL5(dist=881879),MIR4454(dist=47661) chr4 163967065 163967065 T - het . 4 +intergenic FSTL5(dist=914185),MIR4454(dist=15355) chr4 163999371 163999371 T G het . 1 +intronic NAF1 chr4 164061198 164061198 G A het . 2 +intronic NAF1 chr4 164067105 164067105 T A het . 15 +intronic MARCH1 chr4 165082677 165082677 - ATCATC het . 2 +intronic MARCH1 chr4 165085131 165085131 C A het . 3 +intronic MARCH1 chr4 165117921 165117921 A T het . 2 +exonic ANP32C chr4 165118286 165118288 TCC - het . 38 +intronic MARCH1 chr4 165162272 165162272 T G het . 2 +intronic MARCH1 chr4 165177585 165177585 A - het . 2 +intergenic MARCH1(dist=132033),SMIM31(dist=238842) chr4 165436440 165436441 GC AT het . 2 +intergenic MARCH1(dist=280689),SMIM31(dist=90187) chr4 165585096 165585096 T C het . 2 +intergenic MARCH1(dist=324436),SMIM31(dist=46440) chr4 165628843 165628843 A G het . 1 +intergenic TRIM60(dist=4577),TMEM192(dist=29754) chr4 165967473 165967476 AAAA - het . 4 +ncRNA_exonic GK3P chr4 166200843 166200843 T G het . 17 +ncRNA_exonic GK3P chr4 166200871 166200871 T G het . 7 +intergenic MSMO1(dist=28923),CPE(dist=6857) chr4 166293237 166293237 G C het . 3 +intronic CPE chr4 166325774 166325774 C A het . 18 +intronic CPE chr4 166418599 166418599 T G het . 12 +intergenic CPE(dist=98122),LINC01179(dist=87970) chr4 166517821 166517821 T G het . 2 +intergenic CPE(dist=98125),LINC01179(dist=87967) chr4 166517824 166517824 C G het . 2 +intergenic CPE(dist=139282),LINC01179(dist=46810) chr4 166558981 166558981 C G het . 2 +intergenic CPE(dist=144286),LINC01179(dist=41806) chr4 166563985 166563985 - T het . 2 +intronic TLL1 chr4 166978540 166978540 T - het . 8 +intronic TLL1 chr4 166987125 166987125 A G het . 8 +intronic TLL1 chr4 167012063 167012063 G A het . 8 +intronic TLL1 chr4 167012242 167012244 TTT - het . 17 +intronic TLL1 chr4 167012250 167012250 - AA het . 17 +intergenic TLL1(dist=200203),SPOCK3(dist=428724) chr4 167225812 167225812 G T het . 3 +intergenic TLL1(dist=200209),SPOCK3(dist=428718) chr4 167225818 167225818 A - het . 3 +intergenic TLL1(dist=369054),SPOCK3(dist=259872) chr4 167394663 167394664 GA - het . 2 +intronic SPOCK3 chr4 167656278 167656278 A C het . 5 +intronic SPOCK3 chr4 167794132 167794132 C G het . 2 +intergenic SPOCK3(dist=484113),ANXA10(dist=373834) chr4 168639854 168639854 G C het . 4 +exonic DDX60 chr4 169183895 169183895 C T het . 16 +intronic DDX60 chr4 169189306 169189306 T A het . 5 +intergenic DDX60(dist=29180),DDX60L(dist=8748) chr4 169269138 169269138 A G het . 2 +intronic DDX60L chr4 169292759 169292759 T C het . 11 +intronic DDX60L chr4 169312801 169312801 A G het . 3 +intronic DDX60L chr4 169323997 169323997 C T het . 1 +intronic DDX60L chr4 169324016 169324016 G A het . 2 +intronic DDX60L chr4 169382822 169382822 - C het . 4 +intronic DDX60L chr4 169392003 169392003 - C het . 10 +intronic PALLD chr4 169604093 169604093 C A het . 24 +intronic PALLD chr4 169612062 169612062 C T het . 7 +intronic PALLD chr4 169612581 169612581 C A het . 11 +intronic PALLD chr4 169812313 169812313 T C het . 13 +intronic PALLD chr4 169835324 169835324 T G het . 3 +intronic PALLD chr4 169835341 169835341 C T het . 2 +intronic PALLD chr4 169846360 169846361 CT - het . 29 +intergenic PALLD(dist=54591),CBR4(dist=4543) chr4 169904199 169904199 G A het . 1 +intronic CBR4 chr4 169911596 169911596 A T het . 5 +intergenic CBR4(dist=64925),SH3RF1(dist=19014) chr4 169996393 169996393 A C het . 3 +intronic SH3RF1 chr4 170088060 170088060 T G het . 4 +intronic NEK1 chr4 170346090 170346090 C T het . 2 +intronic NEK1 chr4 170394256 170394256 A - het . 3 +intronic NEK1 chr4 170428352 170428352 G T het . 3 +intronic NEK1 chr4 170476699 170476699 - CA het . 3 +exonic NEK1 chr4 170477000 170477000 C A het . 24 +intronic NEK1 chr4 170483153 170483153 T A het . 13 +intronic CLCN3 chr4 170611981 170611981 A G het . 4 +intronic CLCN3 chr4 170611991 170611991 T G het . 4 +exonic HPF1 chr4 170663235 170663235 C T het . 21 +intergenic HPF1(dist=40655),LINC02275(dist=119164) chr4 170719748 170719748 T C het . 1 +intergenic AADAT(dist=128229),LINC01612(dist=7975) chr4 171139767 171139767 A G het . 1 +intergenic AADAT(dist=129416),LINC01612(dist=6788) chr4 171140954 171140954 - A het . 9 +ncRNA_exonic LINC01612 chr4 171204521 171204521 C T het . 2 +intergenic LINC01612(dist=28984),LINC02382(dist=429763) chr4 171233857 171233857 C A het . 1 +intergenic LINC01612(dist=92126),LINC02382(dist=366621) chr4 171296999 171296999 C T het . 1 +intergenic LINC01612(dist=220697),LINC02382(dist=238050) chr4 171425570 171425570 - CGC het . 3 +intergenic LINC01612(dist=220699),LINC02382(dist=238048) chr4 171425572 171425572 - GCAAT het . 3 +intergenic LINC01612(dist=220711),LINC02382(dist=238036) chr4 171425584 171425584 C A het . 3 +intergenic LINC02382(dist=104828),LINC02431(dist=192039) chr4 171769714 171769714 G A het . 2 +intergenic LINC02382(dist=219111),LINC02431(dist=77756) chr4 171883997 171883997 T A het . 2 +intergenic MIR6082(dist=155713),LINC02174(dist=260678) chr4 172263156 172263156 - T het . 3 +intergenic MIR6082(dist=155714),LINC02174(dist=260677) chr4 172263157 172263157 C A het . 3 +intergenic MIR6082(dist=181241),LINC02174(dist=235150) chr4 172288684 172288684 G A het . 1 +intergenic MIR6082(dist=255736),LINC02174(dist=160655) chr4 172363179 172363179 T C het . 2 +ncRNA_intronic LINC02174 chr4 172556748 172556748 - G het . 2 +intronic GALNTL6 chr4 172752277 172752277 G A het . 2 +intronic GALNTL6 chr4 172974435 172974436 AA TT het . 2 +intronic GALNTL6 chr4 173162110 173162110 C T het . 3 +intronic SCRG1 chr4 174420983 174420983 A G het . 3 +ncRNA_intronic HAND2-AS1 chr4 174486449 174486449 T C het . 2 +intergenic HAND2-AS1(dist=43613),LINC02269(dist=262405) chr4 174556019 174556019 T C het . 2 +intergenic HAND2-AS1(dist=274908),LINC02269(dist=31110) chr4 174787314 174787314 A C het . 2 +ncRNA_intronic LINC02269 chr4 174836991 174836991 G A het . 1 +intergenic LINC02269(dist=44602),LINC02268(dist=120533) chr4 174895278 174895278 T G het . 1 +intergenic LINC02269(dist=97751),LINC02268(dist=67384) chr4 174948427 174948427 A G het . 1 +intergenic LINC02269(dist=116936),LINC02268(dist=48199) chr4 174967612 174967612 C T het . 3 +ncRNA_intronic LINC02268 chr4 175054539 175054539 T A het . 2 +ncRNA_intronic LINC02268 chr4 175060768 175060768 T A het . 3 +exonic CEP44 chr4 175232009 175232009 C A het . 23 +intronic GLRA3 chr4 175636795 175636795 A T het . 10 +ncRNA_intronic LOC101928551 chr4 175771273 175771273 G A het . 2 +intergenic LOC101928551(dist=30615),ADAM29(dist=11779) chr4 175827730 175827730 A T het . 2 +intergenic ADAM29(dist=54304),GPM6A(dist=600453) chr4 175953635 175953635 C T het . 2 +intergenic ADAM29(dist=212349),GPM6A(dist=442408) chr4 176111680 176111680 G A het . 2 +intergenic ADAM29(dist=458555),GPM6A(dist=196202) chr4 176357886 176357886 A G het . 2 +intergenic ADAM29(dist=517445),GPM6A(dist=137312) chr4 176416776 176416776 C A het . 7 +intergenic ADAM29(dist=592519),GPM6A(dist=62238) chr4 176491850 176491850 C A het . 3 +intronic GPM6A chr4 176692568 176692568 C A het . 3 +intronic GPM6A chr4 176790950 176790950 G C het . 1 +intronic GPM6A chr4 176873123 176873123 G A het . 2 +intergenic GPM6A(dist=7374),WDR17(dist=55769) chr4 176931216 176931216 T A het . 2 +intronic WDR17 chr4 176992021 176992021 G T het . 2 +intronic WDR17 chr4 177033646 177033646 C T het . 1 +intronic WDR17 chr4 177089584 177089584 G T het . 4 +intronic SPATA4 chr4 177116489 177116489 C A het . 8 +exonic ASB5 chr4 177137988 177137988 C T het . 9 +intergenic SPCS3(dist=7665),VEGFC(dist=343624) chr4 177261061 177261061 T G het . 3 +intergenic SPCS3(dist=17956),VEGFC(dist=333333) chr4 177271352 177271352 A G het . 2 +intergenic SPCS3(dist=22588),VEGFC(dist=328701) chr4 177275984 177275984 G C het . 2 +intergenic SPCS3(dist=35511),VEGFC(dist=315778) chr4 177288907 177288907 C T het . 2 +intergenic SPCS3(dist=35540),VEGFC(dist=315749) chr4 177288936 177288936 G A het . 2 +intergenic SPCS3(dist=113333),VEGFC(dist=237956) chr4 177366729 177366729 T C het . 2 +intergenic SPCS3(dist=150056),VEGFC(dist=201233) chr4 177403452 177403452 G C het . 4 +intergenic SPCS3(dist=255153),VEGFC(dist=96136) chr4 177508549 177508549 A G het . 1 +exonic VEGFC chr4 177605082 177605084 TCA - het . 9 +intronic VEGFC chr4 177609203 177609203 G A het . 7 +intronic VEGFC chr4 177667073 177667073 G T het . 1 +ncRNA_exonic LINC02509 chr4 177796977 177796977 G T het . 2 +intergenic LINC02509(dist=62132),NEIL3(dist=367105) chr4 177863886 177863886 C T het . 2 +intergenic LINC02509(dist=62149),NEIL3(dist=367088) chr4 177863903 177863903 A G het . 2 +intergenic NEIL3(dist=55001),AGA(dist=12835) chr4 178339093 178339094 TT CG het . 1 +intronic AGA chr4 178354667 178354667 C A het . 5 +intronic AGA chr4 178354680 178354680 A T het . 3 +intronic AGA chr4 178361018 178361018 A - het . 4 +ncRNA_intronic LINC01098 chr4 178887811 178887811 - TTT het . 9 +ncRNA_intronic LINC01098 chr4 178887815 178887815 C T het . 10 +intergenic LINC01098(dist=505107),NONE(dist=NONE) chr4 179417011 179417018 AAACAAAC - het . 2 +intergenic LINC01098(dist=531272),NONE(dist=NONE) chr4 179443176 179443176 C A het . 2 +intergenic LINC01098(dist=531284),NONE(dist=NONE) chr4 179443188 179443188 C T het . 2 +intergenic LINC01098(dist=679787),NONE(dist=NONE) chr4 179591691 179591691 C T het . 2 +intergenic LINC01098(dist=690708),NONE(dist=NONE) chr4 179602612 179602612 G A het . 2 +intergenic LINC01098(dist=690720),NONE(dist=NONE) chr4 179602624 179602624 T A het . 2 +intergenic LINC01098(dist=690737),NONE(dist=NONE) chr4 179602641 179602641 - T het . 2 +intergenic LINC01098(dist=957906),NONE(dist=NONE) chr4 179869810 179869811 CA AC het . 2 +intergenic LINC01098(dist=1070921),LINC00290(dist=2002418) chr4 179982825 179982825 A C het . 3 +intergenic LINC01098(dist=1123814),LINC00290(dist=1949525) chr4 180035718 180035718 T - het . 2 +intergenic LINC01098(dist=1123826),LINC00290(dist=1949513) chr4 180035730 180035730 T A het . 2 +intergenic LINC01098(dist=1387479),LINC00290(dist=1685860) chr4 180299383 180299383 G A het . 1 +intergenic LINC01098(dist=1456586),LINC00290(dist=1616753) chr4 180368490 180368490 T G het . 1 +intergenic LINC01098(dist=1492791),LINC00290(dist=1580548) chr4 180404695 180404695 G T het . 2 +intergenic LINC01098(dist=1816782),LINC00290(dist=1256557) chr4 180728686 180728686 C T het . 1 +intergenic LINC01098(dist=1869361),LINC00290(dist=1203978) chr4 180781265 180781265 C T het . 2 +intergenic LINC01098(dist=1869387),LINC00290(dist=1203952) chr4 180781291 180781291 A - het . 3 +intergenic LINC01098(dist=1967160),LINC00290(dist=1106179) chr4 180879064 180879064 T A het . 1 +intergenic LINC01098(dist=1968213),LINC00290(dist=1105126) chr4 180880117 180880117 T C het . 2 +intergenic LINC01098(dist=1968244),LINC00290(dist=1105095) chr4 180880148 180880148 C T het . 2 +intergenic LINC01098(dist=2013311),LINC00290(dist=1060028) chr4 180925215 180925215 T G het . 2 +intergenic NONE(dist=NONE),LINC00290(dist=790932) chr4 181194311 181194311 T C het . 2 +intergenic NONE(dist=NONE),LINC00290(dist=744564) chr4 181240679 181240679 T C het . 1 +intergenic NONE(dist=NONE),LINC00290(dist=548920) chr4 181436323 181436323 A G het . 1 +intergenic NONE(dist=NONE),LINC00290(dist=548895) chr4 181436348 181436348 T C het . 2 +intergenic NONE(dist=NONE),LINC00290(dist=472243) chr4 181513000 181513000 G C het . 2 +intergenic NONE(dist=NONE),LINC00290(dist=455149) chr4 181530094 181530094 T A het . 1 +intergenic NONE(dist=NONE),LINC00290(dist=449900) chr4 181535343 181535343 C A het . 2 +intergenic NONE(dist=NONE),LINC00290(dist=443088) chr4 181542155 181542155 T C het . 2 +intergenic NONE(dist=NONE),LINC00290(dist=443085) chr4 181542158 181542158 C A het . 2 +intergenic NONE(dist=NONE),LINC00290(dist=421694) chr4 181563549 181563549 G T het . 1 +intergenic NONE(dist=NONE),LINC00290(dist=220110) chr4 181765132 181765133 CA TC het . 2 +intergenic NONE(dist=NONE),LINC00290(dist=127704) chr4 181857538 181857539 AT - het . 4 +intergenic TEMN3-AS1(dist=10006),LOC90768(dist=298681) chr4 182761132 182761132 A C het . 2 +intergenic TEMN3-AS1(dist=40806),LOC90768(dist=267881) chr4 182791932 182791932 C T het . 2 +intergenic TEMN3-AS1(dist=62111),LOC90768(dist=246576) chr4 182813237 182813237 T C het . 1 +intergenic TEMN3-AS1(dist=200426),LOC90768(dist=108261) chr4 182951552 182951552 A G het . 1 +intergenic TEMN3-AS1(dist=245799),LOC90768(dist=62888) chr4 182996925 182996925 A G het . 1 +intergenic TEMN3-AS1(dist=245911),LOC90768(dist=62776) chr4 182997037 182997037 G A het . 2 +intronic TENM3 chr4 183458564 183458564 C T het . 2 +intronic TENM3 chr4 183650027 183650028 AA - het . 5 +intronic TENM3 chr4 183650051 183650051 C A het . 7 +intronic TENM3 chr4 183673247 183673247 T A het . 2 +ncRNA_exonic FAM92A1P2 chr4 183960782 183960782 T G het . 1 +intergenic FAM92A1P2(dist=10969),WWC2-AS2(dist=45933) chr4 183972241 183972241 G T het . 1 +intronic WWC2 chr4 184079842 184079842 C T het . 1 +intronic WWC2 chr4 184171187 184171187 T C het . 9 +intronic WWC2 chr4 184215025 184215025 C A het . 2 +intergenic CLDN24(dist=46885),CDKN2AIP(dist=75280) chr4 184290464 184290464 T C het . 2 +intergenic CLDN24(dist=46904),CDKN2AIP(dist=75261) chr4 184290483 184290483 A C het . 2 +intergenic CLDN24(dist=58034),CDKN2AIP(dist=64131) chr4 184301613 184301613 A G het . 5 +intergenic CLDN24(dist=59105),CDKN2AIP(dist=63060) chr4 184302684 184302684 G A het . 4 +intergenic CLDN24(dist=59688),CDKN2AIP(dist=62477) chr4 184303267 184303267 T C het . 9 +intergenic CLDN24(dist=96056),CDKN2AIP(dist=26109) chr4 184339635 184339635 - AATA het . 1 +intergenic CLDN24(dist=96090),CDKN2AIP(dist=26075) chr4 184339669 184339669 C A het . 2 +intergenic ING2(dist=77519),RWDD4(dist=49688) chr4 184511100 184511100 G T het . 1 +intergenic ING2(dist=77528),RWDD4(dist=49679) chr4 184511109 184511109 A C het . 2 +intronic RWDD4 chr4 184578221 184578221 C T het . 2 +intronic TRAPPC11 chr4 184619017 184619017 C G het . 5 +intronic TRAPPC11 chr4 184619032 184619032 G A het . 5 +intronic TRAPPC11 chr4 184619035 184619035 C T het . 5 +intronic STOX2 chr4 184869548 184869548 A G het . 4 +intronic STOX2 chr4 184869558 184869558 G A het . 3 +intronic STOX2 chr4 184882510 184882512 TGC - het . 8 +intronic STOX2 chr4 184927894 184927894 A G het . 3 +intergenic STOX2(dist=47020),ENPP6(dist=18156) chr4 184991703 184991703 C T het . 2 +downstream ENPP6(dist=3) chr4 185009856 185009856 A G het . 2 +intronic ENPP6 chr4 185025175 185025175 C T het . 1 +intronic ENPP6 chr4 185071103 185071103 T C het . 1 +intronic ENPP6 chr4 185074897 185074897 G T het . 10 +intronic ENPP6 chr4 185078850 185078850 T C het . 1 +intronic ENPP6 chr4 185101281 185101281 A G het . 1 +intergenic ENPP6(dist=25714),LINC02363(dist=97356) chr4 185164828 185164828 T G het . 4 +intergenic ENPP6(dist=36345),LINC02363(dist=86725) chr4 185175459 185175459 C G het . 2 +ncRNA_intronic LINC02362 chr4 185290488 185290488 T C het . 1 +intronic IRF2 chr4 185373892 185373892 C T het . 1 +intronic IRF2 chr4 185389648 185389648 - A het . 2 +ncRNA_intronic LINC02427 chr4 185429096 185429096 A G het . 3 +intronic PRIMPOL chr4 185612953 185612953 A G het . 6 +intronic CENPU chr4 185616631 185616631 T C het . 11 +intronic CENPU chr4 185620822 185620822 - TCTT het . 12 +intronic CENPU chr4 185623712 185623712 A - het . 11 +intronic CENPU chr4 185623716 185623716 A G het . 11 +intronic CENPU chr4 185634172 185634172 A - het . 17 +intronic CENPU chr4 185634218 185634218 A C het . 25 +exonic CENPU chr4 185655171 185655171 C T het . 17 +exonic CENPU chr4 185655190 185655190 C G het . 15 +exonic CENPU chr4 185655192 185655192 G C het . 15 +upstream ACSL1(dist=578) chr4 185747846 185747846 T G het . 1 +intergenic LINC01093(dist=29374),MIR4455(dist=9548) chr4 185849989 185849989 T C het . 2 +intronic CFAP97 chr4 186085427 186085427 - T het . 11 +intronic CFAP97 chr4 186100459 186100459 T C het . 2 +intronic CFAP97 chr4 186112369 186112369 - A het . 10 +intronic SNX25 chr4 186177215 186177215 G A het . 2 +intronic SNX25 chr4 186177226 186177226 T C het . 2 +intronic SNX25 chr4 186232081 186232081 A G het . 2 +exonic SNX25 chr4 186244784 186244784 C A het . 33 +intronic ANKRD37 chr4 186320667 186320667 A - het . 16 +intronic C4orf47 chr4 186357035 186357039 TATCT - het . 5 +intronic C4orf47 chr4 186361876 186361876 A G het . 8 +intronic C4orf47 chr4 186364893 186364893 T C het . 2 +exonic CCDC110 chr4 186379371 186379371 G A het . 24 +exonic CCDC110 chr4 186380182 186380182 C A het . 21 +exonic CCDC110 chr4 186380497 186380497 G A het . 28 +exonic PDLIM3 chr4 186423510 186423510 C A het . 20 +intronic PDLIM3 chr4 186431073 186431073 T - het . 2 +intronic PDLIM3 chr4 186431085 186431085 T G het . 2 +intronic PDLIM3 chr4 186444698 186444698 A C het . 11 +intronic PDLIM3 chr4 186444704 186444704 C T het . 10 +intronic PDLIM3 chr4 186444722 186444722 - TT het . 4 +intronic SORBS2 chr4 186567600 186567600 T C het . 2 +intronic SORBS2 chr4 186615865 186615870 CTTTTC - het . 3 +intergenic SORBS2(dist=17562),TLR3(dist=94877) chr4 186895432 186895432 T A het . 2 +intronic TLR3 chr4 187001729 187001733 TATTT - het . 2 +intronic TLR3 chr4 187003339 187003339 G A het . 2 +intronic TLR3 chr4 187005376 187005376 T C het . 15 +intronic TLR3 chr4 187005379 187005379 - T het . 15 +intronic TLR3 chr4 187005683 187005683 - A het . 5 +intergenic TLR3(dist=54003),FAM149A(dist=5186) chr4 187060255 187060255 T A het . 2 +intronic FAM149A chr4 187071516 187071516 G T het . 2 +intronic FAM149A chr4 187071519 187071519 G T het . 2 +exonic FAM149A chr4 187078722 187078722 G T het . 15 +intronic CYP4V2 chr4 187130534 187130534 - A het . 3 +ncRNA_intronic F11-AS1 chr4 187241497 187241497 C T het . 2 +downstream MTNR1A(dist=108) chr4 187454701 187454701 T C het . 3 +exonic MTNR1A chr4 187476492 187476492 T C het . 7 +intergenic MTNR1A(dist=18081),FAT1(dist=14135) chr4 187494802 187494802 - A het . 5 +exonic FAT1 chr4 187627915 187627915 C A het . 25 +exonic FAT1 chr4 187630410 187630410 C T het . 28 +intergenic FAT1(dist=344142),LINC02374(dist=134011) chr4 187989129 187989129 G A het . 1 +intergenic LINC02374(dist=54235),LOC339975(dist=36973) chr4 188188264 188188264 - G het . 2 +intergenic LINC02374(dist=54239),LOC339975(dist=36969) chr4 188188268 188188268 T G het . 2 +intergenic LINC02374(dist=77917),LOC339975(dist=13291) chr4 188211946 188211946 T A het . 1 +intergenic LINC02374(dist=79375),LOC339975(dist=11833) chr4 188213404 188213404 G T het . 3 +ncRNA_intronic LOC339975 chr4 188258197 188258197 G A het . 2 +intronic TRIML2 chr4 189018454 189018454 A G het . 22 +intergenic TRIML2(dist=18765),TRIML1(dist=15089) chr4 189045506 189045506 A C het . 1 +intergenic TRIML2(dist=22244),TRIML1(dist=11610) chr4 189048985 189048985 G T het . 1 +intergenic TRIML2(dist=22266),TRIML1(dist=11588) chr4 189049007 189049007 G A het . 1 +intronic TRIML1 chr4 189065055 189065055 C G het . 11 +intronic TRIML1 chr4 189065104 189065104 T G het . 4 +intergenic TRIML1(dist=43723),LINC01060(dist=264115) chr4 189112617 189112617 C T het . 2 +intergenic TRIML1(dist=162372),LINC01060(dist=145466) chr4 189231266 189231266 A G het . 1 +intergenic TRIML1(dist=239683),LINC01060(dist=68155) chr4 189308577 189308577 A T het . 2 +intergenic TRIML1(dist=239693),LINC01060(dist=68145) chr4 189308587 189308587 T - het . 2 +ncRNA_intronic LINC01060 chr4 189447588 189447588 C T het . 2 +ncRNA_intronic LINC01060 chr4 189447596 189447596 A G het . 2 +ncRNA_intronic LINC01060 chr4 189475731 189475731 G T het . 2 +ncRNA_intronic LINC01060 chr4 189506714 189506714 G T het . 2 +intergenic LINC02508(dist=62425),LINC01262(dist=811670) chr4 189769090 189769090 C T het . 2 +intergenic LINC02508(dist=62443),LINC01262(dist=811652) chr4 189769108 189769108 A T het . 3 +intergenic LINC02508(dist=260211),LINC01262(dist=613884) chr4 189966876 189966876 C T het . 1 +intergenic LINC02508(dist=334696),LINC01262(dist=539399) chr4 190041361 190041361 G A het . 2 +intergenic LINC02508(dist=421563),LINC01262(dist=452532) chr4 190128228 190128228 A T het . 1 +intergenic LINC02508(dist=451588),LINC01262(dist=422507) chr4 190158253 190158253 G T het . 1 +intergenic LINC02508(dist=451605),LINC01262(dist=422490) chr4 190158270 190158270 C G het . 2 +intergenic LINC02508(dist=484954),LINC01262(dist=389140) chr4 190191619 190191620 AC GG het . 5 +intergenic LINC02508(dist=484989),LINC01262(dist=389106) chr4 190191654 190191654 C T het . 4 +intergenic LINC02508(dist=494229),LINC01262(dist=379866) chr4 190200894 190200894 G A het . 3 +intergenic LINC02508(dist=494254),LINC01262(dist=379841) chr4 190200919 190200919 G C het . 3 +intergenic LINC02508(dist=496028),LINC01262(dist=378067) chr4 190202693 190202693 A G het . 6 +intergenic LINC02508(dist=496036),LINC01262(dist=378059) chr4 190202701 190202701 G - het . 8 +intergenic LINC02508(dist=496037),LINC01262(dist=378058) chr4 190202702 190202702 G A het . 8 +intergenic LINC02508(dist=496044),LINC01262(dist=378051) chr4 190202709 190202709 G C het . 10 +intergenic LINC02508(dist=496099),LINC01262(dist=377996) chr4 190202764 190202764 G T het . 5 +intergenic LINC02508(dist=496138),LINC01262(dist=377957) chr4 190202803 190202803 A G het . 2 +intergenic LINC02508(dist=829985),LINC01262(dist=44110) chr4 190536650 190536650 G A het . 2 +intergenic LINC02508(dist=834000),LINC01262(dist=40094) chr4 190540665 190540666 TG CA het . 2 +intergenic LINC02508(dist=834005),LINC01262(dist=40090) chr4 190540670 190540670 G A het . 2 +intergenic LINC02508(dist=834872),LINC01262(dist=39223) chr4 190541537 190541537 A C het . 2 +intergenic LINC02508(dist=834879),LINC01262(dist=39216) chr4 190541544 190541544 C A het . 2 +intergenic LINC02508(dist=835702),LINC01262(dist=38393) chr4 190542367 190542367 G A het . 2 +intergenic LINC02508(dist=835773),LINC01262(dist=38322) chr4 190542438 190542438 C G het . 3 +intergenic LINC02508(dist=836149),LINC01262(dist=37946) chr4 190542814 190542814 G C het . 2 +intergenic LINC02508(dist=836154),LINC01262(dist=37941) chr4 190542819 190542819 A T het . 2 +intergenic LINC02508(dist=836951),LINC01262(dist=37144) chr4 190543616 190543616 G A het . 2 +intergenic LINC02508(dist=836975),LINC01262(dist=37120) chr4 190543640 190543640 C A het . 2 +intergenic LINC02508(dist=838435),LINC01262(dist=35660) chr4 190545100 190545100 A G het . 5 +intergenic LINC02508(dist=838587),LINC01262(dist=35508) chr4 190545252 190545252 C A het . 2 +intergenic LINC02508(dist=838915),LINC01262(dist=35180) chr4 190545580 190545580 C T het . 2 +intergenic LINC02508(dist=839855),LINC01262(dist=34240) chr4 190546520 190546520 C T het . 2 +intergenic LINC02508(dist=841118),LINC01262(dist=32977) chr4 190547783 190547783 T C het . 3 +intergenic LINC02508(dist=843234),LINC01262(dist=30861) chr4 190549899 190549899 G A het . 2 +intergenic LINC02508(dist=843274),LINC01262(dist=30821) chr4 190549939 190549939 C T het . 2 +intergenic LINC02508(dist=843896),LINC01262(dist=30199) chr4 190550561 190550561 G A het . 2 +intergenic LINC02508(dist=843901),LINC01262(dist=30194) chr4 190550566 190550566 T C het . 2 +intergenic LINC02508(dist=844402),LINC01262(dist=29693) chr4 190551067 190551067 A - het . 5 +intergenic LINC02508(dist=844433),LINC01262(dist=29662) chr4 190551098 190551098 C T het . 8 +intergenic LINC02508(dist=844439),LINC01262(dist=29656) chr4 190551104 190551104 C T het . 8 +intergenic LINC02508(dist=844468),LINC01262(dist=29627) chr4 190551133 190551133 G A het . 7 +intergenic LINC02508(dist=845148),LINC01262(dist=28947) chr4 190551813 190551813 C T het . 2 +intergenic LINC02508(dist=845771),LINC01262(dist=28324) chr4 190552436 190552436 G A het . 2 +intergenic LINC02508(dist=846366),LINC01262(dist=27729) chr4 190553031 190553031 T C het . 2 +intergenic LINC02508(dist=846812),LINC01262(dist=27283) chr4 190553477 190553477 A G het . 5 +intergenic LINC02508(dist=846838),LINC01262(dist=27257) chr4 190553503 190553503 C T het . 2 +intergenic LINC02508(dist=846993),LINC01262(dist=27102) chr4 190553658 190553658 T C het . 3 +intergenic LINC02508(dist=848971),LINC01262(dist=25124) chr4 190555636 190555636 T C het . 3 +intergenic LINC02508(dist=849143),LINC01262(dist=24952) chr4 190555808 190555808 A G het . 2 +intergenic LINC02508(dist=849192),LINC01262(dist=24903) chr4 190555857 190555857 G A het . 2 +intergenic LINC02508(dist=849600),LINC01262(dist=24495) chr4 190556265 190556265 - A het . 4 +intergenic LINC02508(dist=849981),LINC01262(dist=24114) chr4 190556646 190556646 A C het . 2 +intergenic LINC02508(dist=850007),LINC01262(dist=24088) chr4 190556672 190556672 C T het . 2 +intergenic LINC02508(dist=850027),LINC01262(dist=24068) chr4 190556692 190556692 T C het . 4 +intergenic LINC02508(dist=850070),LINC01262(dist=24025) chr4 190556735 190556735 A C het . 2 +intergenic LINC02508(dist=850457),LINC01262(dist=23638) chr4 190557122 190557122 A C het . 2 +intergenic LINC02508(dist=850959),LINC01262(dist=23136) chr4 190557624 190557624 T C het . 2 +intergenic LINC02508(dist=850975),LINC01262(dist=23120) chr4 190557640 190557640 C G het . 2 +intergenic LINC02508(dist=851867),LINC01262(dist=22228) chr4 190558532 190558532 G A het . 4 +intergenic LINC02508(dist=851955),LINC01262(dist=22140) chr4 190558620 190558620 C T het . 4 +intergenic LINC02508(dist=851969),LINC01262(dist=22126) chr4 190558634 190558634 - AA het . 4 +intergenic LINC02508(dist=852006),LINC01262(dist=22089) chr4 190558671 190558671 G A het . 2 +intergenic LINC02508(dist=852011),LINC01262(dist=22084) chr4 190558676 190558676 T G het . 1 +intergenic LINC02508(dist=852354),LINC01262(dist=21741) chr4 190559019 190559019 C T het . 2 +intergenic LINC02508(dist=852373),LINC01262(dist=21722) chr4 190559038 190559038 A T het . 3 +intergenic LINC02508(dist=853967),LINC01262(dist=20128) chr4 190560632 190560632 C T het . 2 +intergenic LINC02508(dist=854340),LINC01262(dist=19755) chr4 190561005 190561005 G A het . 4 +intergenic LINC02508(dist=854376),LINC01262(dist=19719) chr4 190561041 190561041 G A het . 4 +intergenic LINC02508(dist=854733),LINC01262(dist=19362) chr4 190561398 190561398 G - het . 3 +intergenic LINC02508(dist=854810),LINC01262(dist=19285) chr4 190561475 190561475 A G het . 4 +intergenic LINC02508(dist=854860),LINC01262(dist=19235) chr4 190561525 190561525 C A het . 3 +intergenic LINC02508(dist=855462),LINC01262(dist=18633) chr4 190562127 190562127 T C het . 1 +intergenic LINC02508(dist=855472),LINC01262(dist=18623) chr4 190562137 190562137 T C het . 2 +intergenic LINC02508(dist=855477),LINC01262(dist=18618) chr4 190562142 190562142 A C het . 2 +intergenic LINC02508(dist=855644),LINC01262(dist=18451) chr4 190562309 190562309 T A het . 2 +intergenic LINC02508(dist=855672),LINC01262(dist=18423) chr4 190562337 190562337 G T het . 2 +intergenic LINC02508(dist=855679),LINC01262(dist=18416) chr4 190562344 190562344 C G het . 2 +intergenic LINC02508(dist=855861),LINC01262(dist=18234) chr4 190562526 190562526 T C het . 4 +intergenic LINC02508(dist=855928),LINC01262(dist=18167) chr4 190562593 190562593 A G het . 3 +intergenic LINC02508(dist=856916),LINC01262(dist=17179) chr4 190563581 190563581 G A het . 2 +intergenic LINC02508(dist=857996),LINC01262(dist=16099) chr4 190564661 190564661 C T het . 2 +intergenic LINC02508(dist=858029),LINC01262(dist=16066) chr4 190564694 190564694 - AGAC het . 2 +intergenic LINC02508(dist=858048),LINC01262(dist=16047) chr4 190564713 190564713 G T het . 2 +intergenic LINC02508(dist=859197),LINC01262(dist=14898) chr4 190565862 190565862 A G het . 3 +intergenic LINC02508(dist=859645),LINC01262(dist=14450) chr4 190566310 190566310 G C het . 3 +intergenic LINC02508(dist=859655),LINC01262(dist=14440) chr4 190566320 190566320 G A het . 3 +intergenic LINC02508(dist=859759),LINC01262(dist=14336) chr4 190566424 190566424 G A het . 1 +intergenic LINC02508(dist=861053),LINC01262(dist=13042) chr4 190567718 190567718 C A het . 4 +intergenic LINC02508(dist=861613),LINC01262(dist=12482) chr4 190568278 190568278 T C het . 2 +intergenic LINC02508(dist=862699),LINC01262(dist=11396) chr4 190569364 190569364 T G het . 2 +intergenic LINC02508(dist=864195),LINC01262(dist=9900) chr4 190570860 190570860 G T het . 5 +intergenic LINC02508(dist=867553),LINC01262(dist=6542) chr4 190574218 190574218 G T het . 2 +intergenic LINC02508(dist=867573),LINC01262(dist=6522) chr4 190574238 190574238 C T het . 3 +intergenic LINC02508(dist=870602),LINC01262(dist=3493) chr4 190577267 190577267 C T het . 3 +intergenic LINC02508(dist=870622),LINC01262(dist=3473) chr4 190577287 190577287 A G het . 2 +intergenic LINC02508(dist=870624),LINC01262(dist=3471) chr4 190577289 190577289 A G het . 2 +intergenic LINC02508(dist=870649),LINC01262(dist=3446) chr4 190577314 190577314 C A het . 2 +intergenic LINC02508(dist=871065),LINC01262(dist=3030) chr4 190577730 190577730 - G het . 2 +intergenic LINC02508(dist=871081),LINC01262(dist=3014) chr4 190577746 190577746 C A het . 1 +intergenic LINC02508(dist=871329),LINC01262(dist=2766) chr4 190577994 190577994 G A het . 1 +intergenic LINC02508(dist=871339),LINC01262(dist=2756) chr4 190578004 190578004 - G het . 1 +intergenic LINC02508(dist=871541),LINC01262(dist=2554) chr4 190578206 190578206 G A het . 3 +intergenic LINC02508(dist=871715),LINC01262(dist=2380) chr4 190578380 190578380 C - het . 2 +intergenic LINC02508(dist=872233),LINC01262(dist=1862) chr4 190578898 190578898 C A het . 4 +intergenic LINC02508(dist=872327),LINC01262(dist=1768) chr4 190578992 190578992 C T het . 2 +intergenic LINC02508(dist=872335),LINC01262(dist=1760) chr4 190579000 190579000 C T het . 2 +intergenic LINC02508(dist=872427),LINC01262(dist=1668) chr4 190579092 190579092 G T het . 2 +intergenic LINC02508(dist=872540),LINC01262(dist=1555) chr4 190579205 190579205 G A het . 3 +upstream LINC01262(dist=905) chr4 190579855 190579855 G C het . 2 +upstream LINC01262(dist=865) chr4 190579895 190579895 C G het . 2 +upstream LINC01262(dist=470) chr4 190580290 190580290 A C het . 2 +upstream LINC01262(dist=431) chr4 190580329 190580329 G A het . 2 +upstream LINC01262(dist=400) chr4 190580360 190580360 C T het . 2 +upstream LINC01262(dist=381) chr4 190580379 190580379 C T het . 2 +upstream LINC01262(dist=373) chr4 190580387 190580387 C T het . 2 +ncRNA_exonic LINC01262 chr4 190581194 190581194 C A het . 2 +ncRNA_exonic LINC01262 chr4 190581201 190581201 C G het . 2 +ncRNA_intronic LINC01262 chr4 190581489 190581489 C G het . 2 +ncRNA_intronic LINC01262 chr4 190581504 190581504 T C het . 2 +ncRNA_intronic LINC01262 chr4 190581680 190581680 T C het . 4 +ncRNA_exonic LINC01262 chr4 190582470 190582470 G T het . 2 +ncRNA_exonic LINC01262 chr4 190582484 190582484 G A het . 2 +ncRNA_exonic LINC01262 chr4 190582490 190582490 C T het . 2 +downstream LINC01262(dist=164) chr4 190582804 190582804 C T het . 2 +intergenic LINC01262(dist=1158),LOC105379514(dist=15171) chr4 190583798 190583798 C T het . 2 +intergenic LINC01262(dist=1536),LOC105379514(dist=14793) chr4 190584176 190584176 C T het . 4 +intergenic LINC01262(dist=1737),LOC105379514(dist=14592) chr4 190584377 190584377 A G het . 4 +intergenic LINC01262(dist=1817),LOC105379514(dist=14512) chr4 190584457 190584457 C T het . 2 +intergenic LINC01262(dist=1854),LOC105379514(dist=14475) chr4 190584494 190584494 G A het . 1 +intergenic LINC01262(dist=2106),LOC105379514(dist=14223) chr4 190584746 190584746 A G het . 1 +intergenic LINC01262(dist=2132),LOC105379514(dist=14197) chr4 190584772 190584772 T G het . 1 +intergenic LINC01262(dist=2861),LOC105379514(dist=13468) chr4 190585501 190585501 C T het . 1 +intergenic LINC01262(dist=3116),LOC105379514(dist=13213) chr4 190585756 190585756 G T het . 2 +intergenic LINC01262(dist=3121),LOC105379514(dist=13208) chr4 190585761 190585761 T C het . 2 +intergenic LINC01262(dist=3904),LOC105379514(dist=12425) chr4 190586544 190586544 T G het . 2 +intergenic LINC01262(dist=3924),LOC105379514(dist=12405) chr4 190586564 190586564 A G het . 2 +intergenic LINC01262(dist=4680),LOC105379514(dist=11649) chr4 190587320 190587320 G A het . 3 +intergenic LINC01262(dist=4737),LOC105379514(dist=11590) chr4 190587377 190587379 AGA - het . 3 +intergenic LINC01262(dist=4881),LOC105379514(dist=11448) chr4 190587521 190587521 C G het . 3 +intergenic LINC01262(dist=4899),LOC105379514(dist=11430) chr4 190587539 190587539 C G het . 3 +intergenic LINC01262(dist=4910),LOC105379514(dist=11418) chr4 190587550 190587551 TG CC het . 2 +intergenic LINC01262(dist=5074),LOC105379514(dist=11255) chr4 190587714 190587714 T C het . 2 +intergenic LINC01262(dist=5169),LOC105379514(dist=11160) chr4 190587809 190587809 G A het . 2 +intergenic LINC01262(dist=5186),LOC105379514(dist=11143) chr4 190587826 190587826 G A het . 3 +intergenic LINC01262(dist=5234),LOC105379514(dist=11095) chr4 190587874 190587874 T C het . 2 +intergenic LINC01262(dist=5349),LOC105379514(dist=10980) chr4 190587989 190587989 C T het . 5 +intergenic LINC01262(dist=5378),LOC105379514(dist=10951) chr4 190588018 190588018 T G het . 5 +intergenic LINC01262(dist=5555),LOC105379514(dist=10774) chr4 190588195 190588195 G C het . 3 +intergenic LINC01262(dist=5563),LOC105379514(dist=10766) chr4 190588203 190588203 G A het . 2 +intergenic LINC01262(dist=5570),LOC105379514(dist=10759) chr4 190588210 190588210 T C het . 2 +intergenic LINC01262(dist=5583),LOC105379514(dist=10746) chr4 190588223 190588223 A T het . 2 +intergenic LINC01262(dist=6375),LOC105379514(dist=9954) chr4 190589015 190589015 T A het . 5 +intergenic LINC01262(dist=7269),LOC105379514(dist=9059) chr4 190589909 190589910 CG AA het . 2 +intergenic LINC01262(dist=7275),LOC105379514(dist=9054) chr4 190589915 190589915 A G het . 2 +intergenic LINC01262(dist=7286),LOC105379514(dist=9043) chr4 190589926 190589926 T A het . 2 +intergenic LINC01262(dist=7332),LOC105379514(dist=8997) chr4 190589972 190589972 C A het . 1 +intergenic LINC01262(dist=7940),LOC105379514(dist=8389) chr4 190590580 190590580 C A het . 2 +intergenic LINC01262(dist=7947),LOC105379514(dist=8382) chr4 190590587 190590587 G A het . 2 +intergenic LINC01262(dist=7957),LOC105379514(dist=8372) chr4 190590597 190590597 G A het . 3 +intergenic LINC01262(dist=7961),LOC105379514(dist=8368) chr4 190590601 190590601 G T het . 3 +intergenic LINC01262(dist=8141),LOC105379514(dist=8188) chr4 190590781 190590781 G A het . 2 +intergenic LINC01262(dist=8225),LOC105379514(dist=8104) chr4 190590865 190590865 G T het . 1 +intergenic LINC01262(dist=8651),LOC105379514(dist=7678) chr4 190591291 190591291 C T het . 4 +intergenic LINC01262(dist=8655),LOC105379514(dist=7674) chr4 190591295 190591295 T C het . 4 +intergenic LINC01262(dist=8680),LOC105379514(dist=7649) chr4 190591320 190591320 G A het . 4 +intergenic LINC01262(dist=8943),LOC105379514(dist=7386) chr4 190591583 190591583 C T het . 1 +intergenic LINC01262(dist=8953),LOC105379514(dist=7376) chr4 190591593 190591593 C T het . 2 +intergenic LINC01262(dist=8972),LOC105379514(dist=7357) chr4 190591612 190591612 G A het . 2 +intergenic LINC01262(dist=8990),LOC105379514(dist=7338) chr4 190591630 190591631 GG CA het . 1 +intergenic LINC01262(dist=9143),LOC105379514(dist=7186) chr4 190591783 190591783 G C het . 3 +intergenic LINC01262(dist=9182),LOC105379514(dist=7147) chr4 190591822 190591822 G A het . 2 +intergenic LINC01262(dist=9191),LOC105379514(dist=7138) chr4 190591831 190591831 A T het . 3 +intergenic LINC01262(dist=9194),LOC105379514(dist=7135) chr4 190591834 190591834 T G het . 2 +intergenic LINC01262(dist=9236),LOC105379514(dist=7093) chr4 190591876 190591876 C A het . 2 +intergenic LINC01262(dist=9855),LOC105379514(dist=6474) chr4 190592495 190592495 A G het . 2 +intergenic LINC01262(dist=10162),LOC105379514(dist=6167) chr4 190592802 190592802 G A het . 3 +intergenic LINC01262(dist=11369),LOC105379514(dist=4960) chr4 190594009 190594009 G T het . 2 +intergenic LINC01262(dist=11405),LOC105379514(dist=4924) chr4 190594045 190594045 G A het . 1 +intergenic LINC01262(dist=11420),LOC105379514(dist=4909) chr4 190594060 190594060 A G het . 1 +intergenic LINC01262(dist=11817),LOC105379514(dist=4511) chr4 190594457 190594458 CT - het . 3 +intergenic LINC01262(dist=14413),LOC105379514(dist=1916) chr4 190597053 190597053 C T het . 2 +intergenic LINC01262(dist=14453),LOC105379514(dist=1876) chr4 190597093 190597093 C T het . 3 +intergenic LINC01262(dist=14899),LOC105379514(dist=1430) chr4 190597539 190597539 C T het . 2 +ncRNA_intronic LOC105379514 chr4 190599216 190599216 C T het . 2 +ncRNA_intronic LOC105379514 chr4 190599577 190599577 C T het . 2 +ncRNA_intronic LOC105379514 chr4 190600995 190600995 A C het . 3 +ncRNA_intronic LOC105379514 chr4 190601015 190601015 C T het . 5 +ncRNA_intronic LOC105379514 chr4 190601025 190601025 A G het . 5 +ncRNA_exonic LOC105379514 chr4 190601308 190601308 T A het . 1 +ncRNA_exonic LOC105379514 chr4 190601329 190601329 G A het . 2 +downstream LOC105379514(dist=226) chr4 190601753 190601753 C G het . 2 +downstream LOC105379514(dist=463) chr4 190601990 190601990 C T het . 2 +downstream LOC105379514(dist=479) chr4 190602006 190602006 A G het . 2 +downstream LOC105379514(dist=517) chr4 190602044 190602044 A G het . 2 +downstream LOC105379514(dist=716) chr4 190602243 190602243 G A het . 2 +intergenic LOC105379514(dist=1749),FRG1-DT(dist=82269) chr4 190603276 190603276 C T het . 3 +intergenic LOC105379514(dist=3447),FRG1-DT(dist=80571) chr4 190604974 190604974 A G het . 2 +intergenic LOC105379514(dist=3450),FRG1-DT(dist=80568) chr4 190604977 190604977 A G het . 2 +intergenic LOC105379514(dist=3459),FRG1-DT(dist=80559) chr4 190604986 190604986 - T het . 2 +intergenic LOC105379514(dist=3903),FRG1-DT(dist=80114) chr4 190605430 190605431 TT - het . 2 +intergenic LOC105379514(dist=3918),FRG1-DT(dist=80100) chr4 190605445 190605445 C T het . 3 +intergenic LOC105379514(dist=3929),FRG1-DT(dist=80089) chr4 190605456 190605456 T C het . 3 +intergenic LOC105379514(dist=3963),FRG1-DT(dist=80055) chr4 190605490 190605490 A G het . 4 +intergenic LOC105379514(dist=9635),FRG1-DT(dist=74383) chr4 190611162 190611162 C T het . 2 +intergenic LOC105379514(dist=9640),FRG1-DT(dist=74378) chr4 190611167 190611167 C T het . 2 +intergenic LOC105379514(dist=9918),FRG1-DT(dist=74100) chr4 190611445 190611445 G A het . 4 +intergenic LOC105379514(dist=9920),FRG1-DT(dist=74098) chr4 190611447 190611447 C A het . 4 +intergenic LOC105379514(dist=9925),FRG1-DT(dist=74093) chr4 190611452 190611452 T C het . 4 +intergenic LOC105379514(dist=10292),FRG1-DT(dist=73726) chr4 190611819 190611819 G T het . 1 +intergenic LOC105379514(dist=11141),FRG1-DT(dist=72877) chr4 190612668 190612668 T C het . 2 +intergenic LOC105379514(dist=11194),FRG1-DT(dist=72824) chr4 190612721 190612721 A G het . 3 +intergenic LOC105379514(dist=11202),FRG1-DT(dist=72816) chr4 190612729 190612729 G T het . 2 +intergenic LOC105379514(dist=12115),FRG1-DT(dist=71903) chr4 190613642 190613642 C T het . 3 +intergenic LOC105379514(dist=12561),FRG1-DT(dist=71457) chr4 190614088 190614088 G C het . 2 +intergenic LOC105379514(dist=17448),FRG1-DT(dist=66570) chr4 190618975 190618975 T C het . 3 +intergenic LOC105379514(dist=17988),FRG1-DT(dist=66030) chr4 190619515 190619515 C T het . 3 +intergenic LOC105379514(dist=18256),FRG1-DT(dist=65760) chr4 190619783 190619785 AAA - het . 3 +intergenic LOC105379514(dist=18261),FRG1-DT(dist=65751) chr4 190619788 190619794 AAAACAT - het . 4 +intergenic LOC105379514(dist=19537),FRG1-DT(dist=64481) chr4 190621064 190621064 T C het . 2 +intergenic LOC105379514(dist=19562),FRG1-DT(dist=64456) chr4 190621089 190621089 C T het . 2 +intergenic LOC105379514(dist=19570),FRG1-DT(dist=64448) chr4 190621097 190621097 T A het . 2 +intergenic LOC105379514(dist=20841),FRG1-DT(dist=63177) chr4 190622368 190622368 C T het . 2 +intergenic LOC105379514(dist=20958),FRG1-DT(dist=63060) chr4 190622485 190622485 G C het . 4 +intergenic LOC105379514(dist=20982),FRG1-DT(dist=63036) chr4 190622509 190622509 C A het . 4 +intergenic LOC105379514(dist=21033),FRG1-DT(dist=62985) chr4 190622560 190622560 A G het . 3 +intergenic LOC105379514(dist=21077),FRG1-DT(dist=62941) chr4 190622604 190622604 C T het . 6 +intergenic LOC105379514(dist=21085),FRG1-DT(dist=62933) chr4 190622612 190622612 C T het . 6 +intergenic LOC105379514(dist=21094),FRG1-DT(dist=62924) chr4 190622621 190622621 A - het . 4 +intergenic LOC105379514(dist=21140),FRG1-DT(dist=62878) chr4 190622667 190622667 G A het . 3 +intergenic LOC105379514(dist=21236),FRG1-DT(dist=62782) chr4 190622763 190622763 A T het . 4 +intergenic LOC105379514(dist=21286),FRG1-DT(dist=62732) chr4 190622813 190622813 G A het . 2 +intergenic LOC105379514(dist=21694),FRG1-DT(dist=62324) chr4 190623221 190623221 C G het . 3 +intergenic LOC105379514(dist=21754),FRG1-DT(dist=62264) chr4 190623281 190623281 G A het . 3 +intergenic LOC105379514(dist=21763),FRG1-DT(dist=62255) chr4 190623290 190623290 G A het . 3 +intergenic LOC105379514(dist=22210),FRG1-DT(dist=61808) chr4 190623737 190623737 C A het . 2 +intergenic LOC105379514(dist=22219),FRG1-DT(dist=61799) chr4 190623746 190623746 G A het . 2 +intergenic LOC105379514(dist=22254),FRG1-DT(dist=61764) chr4 190623781 190623781 A C het . 1 +intergenic LOC105379514(dist=22535),FRG1-DT(dist=61483) chr4 190624062 190624062 T C het . 5 +intergenic LOC105379514(dist=22559),FRG1-DT(dist=61459) chr4 190624086 190624086 G A het . 3 +intergenic LOC105379514(dist=23832),FRG1-DT(dist=60186) chr4 190625359 190625359 C A het . 3 +intergenic LOC105379514(dist=23843),FRG1-DT(dist=60175) chr4 190625370 190625370 G C het . 3 +intergenic LOC105379514(dist=23866),FRG1-DT(dist=60152) chr4 190625393 190625393 G T het . 4 +intergenic LOC105379514(dist=25144),FRG1-DT(dist=58874) chr4 190626671 190626671 G A het . 3 +intergenic LOC105379514(dist=25270),FRG1-DT(dist=58748) chr4 190626797 190626797 T C het . 2 +intergenic LOC105379514(dist=26215),FRG1-DT(dist=57803) chr4 190627742 190627742 T C het . 3 +intergenic LOC105379514(dist=26217),FRG1-DT(dist=57801) chr4 190627744 190627744 C G het . 3 +intergenic LOC105379514(dist=26592),FRG1-DT(dist=57425) chr4 190628119 190628120 CA TG het . 2 +intergenic LOC105379514(dist=28029),FRG1-DT(dist=55989) chr4 190629556 190629556 T C het . 3 +intergenic LOC105379514(dist=28506),FRG1-DT(dist=55512) chr4 190630033 190630033 C A het . 3 +intergenic LOC105379514(dist=29079),FRG1-DT(dist=54939) chr4 190630606 190630606 C G het . 2 +intergenic LOC105379514(dist=29438),FRG1-DT(dist=54580) chr4 190630965 190630965 C T het . 3 +intergenic LOC105379514(dist=29467),FRG1-DT(dist=54551) chr4 190630994 190630994 - A het . 2 +intergenic LOC105379514(dist=29473),FRG1-DT(dist=54545) chr4 190631000 190631000 A C het . 2 +intergenic LOC105379514(dist=29475),FRG1-DT(dist=54543) chr4 190631002 190631002 G A het . 2 +intergenic LOC105379514(dist=29481),FRG1-DT(dist=54537) chr4 190631008 190631008 T G het . 2 +intergenic LOC105379514(dist=29488),FRG1-DT(dist=54530) chr4 190631015 190631015 A G het . 2 +intergenic LOC105379514(dist=29493),FRG1-DT(dist=54525) chr4 190631020 190631020 G A het . 2 +intergenic LOC105379514(dist=31800),FRG1-DT(dist=52218) chr4 190633327 190633327 A T het . 3 +intergenic LOC105379514(dist=32203),FRG1-DT(dist=51815) chr4 190633730 190633730 C T het . 3 +intergenic LOC105379514(dist=33287),FRG1-DT(dist=50731) chr4 190634814 190634814 A G het . 2 +intergenic LOC105379514(dist=33313),FRG1-DT(dist=50705) chr4 190634840 190634840 C T het . 3 +intergenic LOC105379514(dist=34118),FRG1-DT(dist=49900) chr4 190635645 190635645 G C het . 2 +intergenic LOC105379514(dist=34121),FRG1-DT(dist=49897) chr4 190635648 190635648 A G het . 2 +intergenic LOC105379514(dist=34172),FRG1-DT(dist=49846) chr4 190635699 190635699 C T het . 2 +intergenic LOC105379514(dist=35621),FRG1-DT(dist=48397) chr4 190637148 190637148 A G het . 2 +intergenic LOC105379514(dist=35696),FRG1-DT(dist=48322) chr4 190637223 190637223 A G het . 2 +intergenic LOC105379514(dist=36784),FRG1-DT(dist=47234) chr4 190638311 190638311 A G het . 2 +intergenic LOC105379514(dist=37742),FRG1-DT(dist=46276) chr4 190639269 190639269 G A het . 2 +intergenic LOC105379514(dist=38144),FRG1-DT(dist=45874) chr4 190639671 190639671 A G het . 3 +intergenic LOC105379514(dist=39468),FRG1-DT(dist=44550) chr4 190640995 190640995 C T het . 4 +intergenic LOC105379514(dist=39517),FRG1-DT(dist=44501) chr4 190641044 190641044 C T het . 3 +intergenic LOC105379514(dist=39529),FRG1-DT(dist=44489) chr4 190641056 190641056 T C het . 1 +intergenic LOC105379514(dist=40684),FRG1-DT(dist=43334) chr4 190642211 190642211 A G het . 4 +intergenic LOC105379514(dist=40871),FRG1-DT(dist=43146) chr4 190642398 190642399 TG CA het . 2 +intergenic LOC105379514(dist=40896),FRG1-DT(dist=43122) chr4 190642423 190642423 G A het . 2 +intergenic LOC105379514(dist=40912),FRG1-DT(dist=43106) chr4 190642439 190642439 G A het . 2 +intergenic LOC105379514(dist=40914),FRG1-DT(dist=43104) chr4 190642441 190642441 C T het . 2 +intergenic LOC105379514(dist=40921),FRG1-DT(dist=43097) chr4 190642448 190642448 A G het . 2 +intergenic LOC105379514(dist=42683),FRG1-DT(dist=41335) chr4 190644210 190644210 A G het . 3 +intergenic LOC105379514(dist=42690),FRG1-DT(dist=41328) chr4 190644217 190644217 T A het . 3 +intergenic LOC105379514(dist=42732),FRG1-DT(dist=41286) chr4 190644259 190644259 G A het . 4 +intergenic LOC105379514(dist=42765),FRG1-DT(dist=41253) chr4 190644292 190644292 A G het . 2 +intergenic LOC105379514(dist=43005),FRG1-DT(dist=41013) chr4 190644532 190644532 - AT het . 2 +intergenic LOC105379514(dist=43054),FRG1-DT(dist=40964) chr4 190644581 190644581 T C het . 1 +intergenic LOC105379514(dist=43744),FRG1-DT(dist=40274) chr4 190645271 190645271 A T het . 4 +intergenic LOC105379514(dist=45133),FRG1-DT(dist=38885) chr4 190646660 190646660 T C het . 2 +intergenic LOC105379514(dist=45170),FRG1-DT(dist=38848) chr4 190646697 190646697 A G het . 2 +intergenic LOC105379514(dist=45289),FRG1-DT(dist=38729) chr4 190646816 190646816 G A het . 1 +intergenic LOC105379514(dist=46576),FRG1-DT(dist=37442) chr4 190648103 190648103 G T het . 2 +intergenic LOC105379514(dist=46579),FRG1-DT(dist=37439) chr4 190648106 190648106 T C het . 2 +intergenic LOC105379514(dist=46617),FRG1-DT(dist=37401) chr4 190648144 190648144 A G het . 3 +intergenic LOC105379514(dist=46767),FRG1-DT(dist=37251) chr4 190648294 190648294 T A het . 4 +intergenic LOC105379514(dist=46862),FRG1-DT(dist=37156) chr4 190648389 190648389 A G het . 2 +intergenic LOC105379514(dist=47210),FRG1-DT(dist=36808) chr4 190648737 190648737 T C het . 2 +intergenic LOC105379514(dist=47297),FRG1-DT(dist=36721) chr4 190648824 190648824 G C het . 2 +intergenic LOC105379514(dist=47581),FRG1-DT(dist=36437) chr4 190649108 190649108 T C het . 2 +intergenic LOC105379514(dist=47850),FRG1-DT(dist=36168) chr4 190649377 190649377 C T het . 2 +intergenic LOC105379514(dist=48452),FRG1-DT(dist=35566) chr4 190649979 190649979 G A het . 4 +intergenic LOC105379514(dist=48483),FRG1-DT(dist=35535) chr4 190650010 190650010 T C het . 4 +intergenic LOC105379514(dist=48490),FRG1-DT(dist=35528) chr4 190650017 190650017 C T het . 4 +intergenic LOC105379514(dist=48497),FRG1-DT(dist=35521) chr4 190650024 190650024 C G het . 4 +intergenic LOC105379514(dist=48572),FRG1-DT(dist=35446) chr4 190650099 190650099 C T het . 2 +intergenic LOC105379514(dist=48591),FRG1-DT(dist=35426) chr4 190650118 190650119 CA TT het . 2 +intergenic LOC105379514(dist=48702),FRG1-DT(dist=35316) chr4 190650229 190650229 A G het . 2 +intergenic LOC105379514(dist=48711),FRG1-DT(dist=35307) chr4 190650238 190650238 C A het . 2 +intergenic LOC105379514(dist=48724),FRG1-DT(dist=35294) chr4 190650251 190650251 G T het . 2 +intergenic LOC105379514(dist=49383),FRG1-DT(dist=34635) chr4 190650910 190650910 C T het . 3 +intergenic LOC105379514(dist=50751),FRG1-DT(dist=33267) chr4 190652278 190652278 G T het . 2 +intergenic LOC105379514(dist=50776),FRG1-DT(dist=33242) chr4 190652303 190652303 C T het . 2 +intergenic LOC105379514(dist=51369),FRG1-DT(dist=32649) chr4 190652896 190652896 A G het . 3 +intergenic LOC105379514(dist=51581),FRG1-DT(dist=32437) chr4 190653108 190653108 A T het . 4 +intergenic LOC105379514(dist=52805),FRG1-DT(dist=31213) chr4 190654332 190654332 T C het . 2 +intergenic LOC105379514(dist=53463),FRG1-DT(dist=30555) chr4 190654990 190654990 G C het . 1 +intergenic LOC105379514(dist=53482),FRG1-DT(dist=30536) chr4 190655009 190655009 T C het . 2 +intergenic LOC105379514(dist=53518),FRG1-DT(dist=30500) chr4 190655045 190655045 C G het . 2 +intergenic LOC105379514(dist=54119),FRG1-DT(dist=29899) chr4 190655646 190655646 G A het . 2 +intergenic LOC105379514(dist=54137),FRG1-DT(dist=29881) chr4 190655664 190655664 T C het . 2 +intergenic LOC105379514(dist=54346),FRG1-DT(dist=29672) chr4 190655873 190655873 C A het . 5 +intergenic LOC105379514(dist=54407),FRG1-DT(dist=29611) chr4 190655934 190655934 C G het . 4 +intergenic LOC105379514(dist=54485),FRG1-DT(dist=29533) chr4 190656012 190656012 C T het . 2 +intergenic LOC105379514(dist=56466),FRG1-DT(dist=27552) chr4 190657993 190657993 G A het . 2 +intergenic LOC105379514(dist=56543),FRG1-DT(dist=27475) chr4 190658070 190658070 A G het . 2 +intergenic LOC105379514(dist=56967),FRG1-DT(dist=27051) chr4 190658494 190658494 C T het . 2 +intergenic LOC105379514(dist=59041),FRG1-DT(dist=24977) chr4 190660568 190660568 T C het . 2 +intergenic LOC105379514(dist=59188),FRG1-DT(dist=24830) chr4 190660715 190660715 C G het . 2 +intergenic LOC105379514(dist=59198),FRG1-DT(dist=24820) chr4 190660725 190660725 T C het . 2 +intergenic LOC105379514(dist=59220),FRG1-DT(dist=24798) chr4 190660747 190660747 C T het . 3 +intergenic LOC105379514(dist=59259),FRG1-DT(dist=24759) chr4 190660786 190660786 G A het . 2 +intergenic LOC105379514(dist=59263),FRG1-DT(dist=24755) chr4 190660790 190660790 C T het . 2 +intergenic LOC105379514(dist=59719),FRG1-DT(dist=24299) chr4 190661246 190661246 T A het . 2 +intergenic LOC105379514(dist=59745),FRG1-DT(dist=24273) chr4 190661272 190661272 G A het . 2 +intergenic LOC105379514(dist=61184),FRG1-DT(dist=22834) chr4 190662711 190662711 C A het . 4 +intergenic LOC105379514(dist=62814),FRG1-DT(dist=21204) chr4 190664341 190664341 C T het . 3 +intergenic LOC105379514(dist=62849),FRG1-DT(dist=21169) chr4 190664376 190664376 T G het . 2 +intergenic LOC105379514(dist=63154),FRG1-DT(dist=20864) chr4 190664681 190664681 G T het . 5 +intergenic LOC105379514(dist=63309),FRG1-DT(dist=20709) chr4 190664836 190664836 G A het . 1 +intergenic LOC105379514(dist=63843),FRG1-DT(dist=20175) chr4 190665370 190665370 A G het . 2 +intergenic LOC105379514(dist=64370),FRG1-DT(dist=19648) chr4 190665897 190665897 A G het . 2 +intergenic LOC105379514(dist=65297),FRG1-DT(dist=18721) chr4 190666824 190666824 G A het . 4 +intergenic LOC105379514(dist=65328),FRG1-DT(dist=18690) chr4 190666855 190666855 A G het . 2 +intergenic LOC105379514(dist=65340),FRG1-DT(dist=18678) chr4 190666867 190666867 C A het . 3 +intergenic LOC105379514(dist=65342),FRG1-DT(dist=18676) chr4 190666869 190666869 A T het . 3 +intergenic LOC105379514(dist=65353),FRG1-DT(dist=18665) chr4 190666880 190666880 T G het . 3 +intergenic LOC105379514(dist=65371),FRG1-DT(dist=18647) chr4 190666898 190666898 G A het . 3 +intergenic LOC105379514(dist=65551),FRG1-DT(dist=18467) chr4 190667078 190667078 A C het . 4 +intergenic LOC105379514(dist=65558),FRG1-DT(dist=18460) chr4 190667085 190667085 G A het . 4 +intergenic LOC105379514(dist=65571),FRG1-DT(dist=18447) chr4 190667098 190667098 T C het . 3 +intergenic LOC105379514(dist=65657),FRG1-DT(dist=18361) chr4 190667184 190667184 G T het . 2 +intergenic LOC105379514(dist=65958),FRG1-DT(dist=18060) chr4 190667485 190667485 - A het . 4 +intergenic LOC105379514(dist=66702),FRG1-DT(dist=17316) chr4 190668229 190668229 C T het . 2 +intergenic LOC105379514(dist=66727),FRG1-DT(dist=17291) chr4 190668254 190668254 C T het . 2 +intergenic LOC105379514(dist=66822),FRG1-DT(dist=17196) chr4 190668349 190668349 T C het . 5 +intergenic LOC105379514(dist=66849),FRG1-DT(dist=17169) chr4 190668376 190668376 G A het . 4 +intergenic LOC105379514(dist=67124),FRG1-DT(dist=16894) chr4 190668651 190668651 G A het . 2 +intergenic LOC105379514(dist=67395),FRG1-DT(dist=16623) chr4 190668922 190668922 G A het . 2 +intergenic LOC105379514(dist=67568),FRG1-DT(dist=16450) chr4 190669095 190669095 T C het . 3 +intergenic LOC105379514(dist=67586),FRG1-DT(dist=16432) chr4 190669113 190669113 G A het . 5 +intergenic LOC105379514(dist=67611),FRG1-DT(dist=16407) chr4 190669138 190669138 A C het . 4 +intergenic LOC105379514(dist=67650),FRG1-DT(dist=16368) chr4 190669177 190669177 T A het . 2 +intergenic LOC105379514(dist=68337),FRG1-DT(dist=15681) chr4 190669864 190669864 A C het . 2 +intergenic LOC105379514(dist=69157),FRG1-DT(dist=14861) chr4 190670684 190670684 T C het . 3 +intergenic LOC105379514(dist=69162),FRG1-DT(dist=14856) chr4 190670689 190670689 A G het . 3 +intergenic LOC105379514(dist=69164),FRG1-DT(dist=14854) chr4 190670691 190670691 A G het . 3 +intergenic LOC105379514(dist=69182),FRG1-DT(dist=14836) chr4 190670709 190670709 A G het . 2 +intergenic LOC105379514(dist=69187),FRG1-DT(dist=14831) chr4 190670714 190670714 T C het . 2 +intergenic LOC105379514(dist=69259),FRG1-DT(dist=14759) chr4 190670786 190670786 T C het . 2 +intergenic LOC105379514(dist=70495),FRG1-DT(dist=13523) chr4 190672022 190672022 T G het . 2 +intergenic LOC105379514(dist=70528),FRG1-DT(dist=13490) chr4 190672055 190672055 T C het . 4 +intergenic LOC105379514(dist=70673),FRG1-DT(dist=13343) chr4 190672200 190672202 CTC - het . 3 +intergenic LOC105379514(dist=70681),FRG1-DT(dist=13337) chr4 190672208 190672208 A G het . 3 +intergenic LOC105379514(dist=70685),FRG1-DT(dist=13333) chr4 190672212 190672212 T - het . 3 +intergenic LOC105379514(dist=70694),FRG1-DT(dist=13324) chr4 190672221 190672221 G T het . 4 +intergenic LOC105379514(dist=70726),FRG1-DT(dist=13292) chr4 190672253 190672253 T A het . 2 +intergenic LOC105379514(dist=70959),FRG1-DT(dist=13059) chr4 190672486 190672486 C A het . 4 +intergenic LOC105379514(dist=70961),FRG1-DT(dist=13057) chr4 190672488 190672488 G C het . 4 +intergenic LOC105379514(dist=71014),FRG1-DT(dist=13004) chr4 190672541 190672541 A C het . 3 +intergenic LOC105379514(dist=71774),FRG1-DT(dist=12242) chr4 190673301 190673303 AAT - het . 4 +intergenic LOC105379514(dist=71783),FRG1-DT(dist=12232) chr4 190673310 190673313 TACT - het . 4 +intergenic LOC105379514(dist=71788),FRG1-DT(dist=12229) chr4 190673315 190673316 AC - het . 4 +intergenic LOC105379514(dist=71791),FRG1-DT(dist=12226) chr4 190673318 190673319 TA - het . 4 +intergenic LOC105379514(dist=72184),FRG1-DT(dist=11833) chr4 190673711 190673712 TG - het . 4 +intergenic LOC105379514(dist=72378),FRG1-DT(dist=11640) chr4 190673905 190673905 A G het . 3 +intergenic LOC105379514(dist=72383),FRG1-DT(dist=11635) chr4 190673910 190673910 A G het . 3 +intergenic LOC105379514(dist=72385),FRG1-DT(dist=11633) chr4 190673912 190673912 A G het . 3 +intergenic LOC105379514(dist=72409),FRG1-DT(dist=11609) chr4 190673936 190673936 A G het . 6 +intergenic LOC105379514(dist=72413),FRG1-DT(dist=11605) chr4 190673940 190673940 - T het . 6 +intergenic LOC105379514(dist=72557),FRG1-DT(dist=11461) chr4 190674084 190674084 T G het . 2 +intergenic LOC105379514(dist=72913),FRG1-DT(dist=11105) chr4 190674440 190674440 A G het . 2 +intergenic LOC105379514(dist=72921),FRG1-DT(dist=11097) chr4 190674448 190674448 T G het . 3 +intergenic LOC105379514(dist=73978),FRG1-DT(dist=10040) chr4 190675505 190675505 A G het . 2 +intergenic LOC105379514(dist=74134),FRG1-DT(dist=9884) chr4 190675661 190675661 A G het . 4 +intergenic LOC105379514(dist=74498),FRG1-DT(dist=9520) chr4 190676025 190676025 C T het . 2 +intergenic LOC105379514(dist=74542),FRG1-DT(dist=9476) chr4 190676069 190676069 A T het . 4 +intergenic LOC105379514(dist=75724),FRG1-DT(dist=8294) chr4 190677251 190677251 C - het . 2 +intergenic LOC105379514(dist=75786),FRG1-DT(dist=8232) chr4 190677313 190677313 C T het . 4 +intergenic LOC105379514(dist=75797),FRG1-DT(dist=8221) chr4 190677324 190677324 T C het . 4 +intergenic LOC105379514(dist=75829),FRG1-DT(dist=8189) chr4 190677356 190677356 C T het . 2 +intergenic LOC105379514(dist=76183),FRG1-DT(dist=7835) chr4 190677710 190677710 A G het . 3 +intergenic LOC105379514(dist=76191),FRG1-DT(dist=7827) chr4 190677718 190677718 C T het . 3 +intergenic LOC105379514(dist=76221),FRG1-DT(dist=7797) chr4 190677748 190677748 A G het . 2 +intergenic LOC105379514(dist=77081),FRG1-DT(dist=6937) chr4 190678608 190678608 C G het . 2 +intergenic LOC105379514(dist=77085),FRG1-DT(dist=6933) chr4 190678612 190678612 A C het . 2 +intergenic LOC105379514(dist=77576),FRG1-DT(dist=6442) chr4 190679103 190679103 A G het . 4 +intergenic LOC105379514(dist=78250),FRG1-DT(dist=5768) chr4 190679777 190679777 T A het . 3 +intergenic LOC105379514(dist=78290),FRG1-DT(dist=5728) chr4 190679817 190679817 A G het . 4 +intergenic LOC105379514(dist=81698),FRG1-DT(dist=2320) chr4 190683225 190683225 G C het . 2 +intergenic LOC105379514(dist=81886),FRG1-DT(dist=2132) chr4 190683413 190683413 T A het . 4 +intergenic LOC105379514(dist=81938),FRG1-DT(dist=2080) chr4 190683465 190683465 A G het . 2 +intergenic LOC105379514(dist=82760),FRG1-DT(dist=1258) chr4 190684287 190684287 C T het . 2 +ncRNA_intronic FRG1-DT chr4 190690843 190690843 T - het . 2 +ncRNA_intronic FRG1-DT chr4 190708873 190708873 G A het . 2 +ncRNA_intronic FRG1-DT chr4 190766177 190766177 A C het . 3 +ncRNA_intronic FRG1-DT chr4 190842477 190842477 A - het . 2 +ncRNA_intronic FRG1-DT chr4 190843395 190843395 - A het . 1 +intergenic FRG1(dist=24417),FRG2(dist=36747) chr4 190908776 190908776 T C het . 2 +intergenic FRG1(dist=58654),FRG2(dist=2510) chr4 190943013 190943013 G A het . 6 +intergenic FRG1(dist=58661),FRG2(dist=2503) chr4 190943020 190943020 C A het . 6 +intergenic FRG1(dist=58674),FRG2(dist=2490) chr4 190943033 190943033 G A het . 4 +intergenic FRG1(dist=58679),FRG2(dist=2485) chr4 190943038 190943038 C G het . 4 +intergenic FRG1(dist=58690),FRG2(dist=2474) chr4 190943049 190943049 G A het . 2 +downstream DBET(dist=581) chr4 190989600 190989600 G T het . 2 +downstream DBET(dist=601) chr4 190989620 190989620 G T het . 2 +downstream DBET(dist=606) chr4 190989625 190989625 C T het . 2 +downstream DBET(dist=611) chr4 190989630 190989630 G A het . 2 +downstream DBET(dist=636) chr4 190989655 190989655 G T het . 2 +downstream DBET(dist=641) chr4 190989660 190989660 C - het . 2 +intergenic DBET(dist=42478),NONE(dist=NONE) chr4 191031497 191031497 A G het . 2 +intergenic NONE(dist=NONE),PLEKHG4B(dist=78522) chr5 13740 13744 ATGTT - het . 3 +intergenic NONE(dist=NONE),PLEKHG4B(dist=76382) chr5 15884 15884 C A het . 2 +intergenic NONE(dist=NONE),PLEKHG4B(dist=76376) chr5 15890 15890 T C het . 2 +intergenic NONE(dist=NONE),PLEKHG4B(dist=76369) chr5 15897 15897 G A het . 2 +intergenic NONE(dist=NONE),PLEKHG4B(dist=76364) chr5 15902 15902 A G het . 2 +intronic PLEKHG4B chr5 164581 164581 T C het . 2 +intronic PLEKHG4B chr5 167557 167557 - A het . 2 +exonic PLEKHG4B chr5 171455 171455 C A het . 42 +intronic PLEKHG4B chr5 174240 174241 GC AA het . 10 +UTR3 PLEKHG4B(NM_052909:c.*1955C>T) chr5 184393 184393 C T het . 1 +exonic CCDC127 chr5 205433 205433 C A het . 18 +intronic SDHA chr5 230980 230980 A G het . 28 +intronic SDHA chr5 235201 235201 C A het . 29 +intronic SDHA chr5 236490 236490 C A het . 25 +intronic SDHA chr5 236932 236932 T A het . 2 +UTR3 SDHA(NM_001294332:c.*408C>T,NM_004168:c.*408C>T,NM_001330758:c.*408C>T) chr5 256943 256943 C T het . 2 +downstream HRAT5(dist=262) chr5 269409 269409 C A het . 2 +intronic AHRR chr5 333827 333827 A C het . 4 +intronic AHRR chr5 341648 341648 T - het . 4 +intronic AHRR chr5 370868 370868 C G het . 1 +intronic AHRR chr5 386014 386014 A C het . 2 +intronic AHRR chr5 394238 394238 G A het . 2 +intronic AHRR chr5 403755 403755 A - het . 13 +intronic AHRR chr5 403797 403797 - TT het . 4 +intronic AHRR chr5 404623 404623 G A het . 13 +intronic AHRR chr5 415932 415932 G A het . 2 +intronic AHRR chr5 419284 419284 T - het . 2 +intronic AHRR chr5 429317 429317 T C het . 3 +downstream AHRR(dist=800) chr5 439205 439205 C T het . 4 +intronic EXOC3 chr5 459296 459296 T - het . 3 +intronic EXOC3 chr5 461728 461728 A - het . 4 +intronic EXOC3 chr5 464572 464572 C A het . 25 +intronic EXOC3 chr5 464814 464814 C G het . 4 +intronic EXOC3 chr5 464823 464823 T C het . 4 +intergenic EXOC3(dist=1463),PP7080(dist=1753) chr5 468872 468872 C T het . 2 +ncRNA_exonic PP7080 chr5 471494 471494 T C het . 1 +ncRNA_intronic SLC9A3-AS1 chr5 476910 476910 T C het . 2 +ncRNA_intronic SLC9A3-AS1 chr5 478572 478572 G - het . 2 +ncRNA_intronic SLC9A3-AS1 chr5 478598 478598 C T het . 2 +exonic SLC9A3 chr5 483404 483404 C A het . 27 +intergenic MIR4456(dist=6469),LOC100996325(dist=59818) chr5 542466 542466 T - het . 3 +intergenic MIR4456(dist=59189),LOC100996325(dist=7098) chr5 595186 595186 C T het . 2 +intronic ZDHHC11B chr5 737506 737506 G T het . 2 +intronic ZDHHC11B chr5 757451 757451 T C het . 2 +intronic ZDHHC11B chr5 757467 757468 TA CG het . 2 +intronic ZDHHC11B chr5 764491 764491 G T het . 1 +intronic ZDHHC11B chr5 764510 764510 A G het . 2 +exonic ZDHHC11B chr5 767033 767033 A C het . 13 +intergenic ZDHHC11B(dist=26328),ZDHHC11(dist=2358) chr5 793362 793362 - T het . 3 +intronic ZDHHC11 chr5 834617 834617 C T het . 2 +intergenic ZDHHC11(dist=1070),BRD9(dist=11679) chr5 852171 852171 A - het . 2 +intronic BRD9 chr5 889404 889404 C A het . 22 +intronic TRIP13 chr5 904396 904397 TT - het . 20 +intronic TRIP13 chr5 906482 906482 A G het . 3 +intronic TRIP13 chr5 914745 914745 C A het . 40 +intergenic TRIP13(dist=4608),LOC100506688(dist=64520) chr5 922772 922772 G T het . 2 +intergenic TRIP13(dist=38507),LOC100506688(dist=30621) chr5 956671 956671 C T het . 2 +intergenic TRIP13(dist=65080),LOC100506688(dist=4048) chr5 983244 983244 G C het . 2 +intronic NKD2 chr5 1035399 1035399 - AATG het . 8 +intronic NKD2 chr5 1035482 1035482 A G het . 23 +intronic SLC12A7 chr5 1053341 1053341 A G het . 3 +intronic SLC12A7 chr5 1060366 1060366 C G het . 9 +intronic SLC12A7 chr5 1060379 1060379 G A het . 10 +intronic SLC12A7 chr5 1060400 1060400 G A het . 12 +intronic SLC12A7 chr5 1065290 1065290 A G het . 1 +intronic SLC12A7 chr5 1074360 1074360 A G het . 2 +intronic SLC12A7 chr5 1080145 1080145 C G het . 3 +intronic SLC12A7 chr5 1085183 1085183 T C het . 1 +intronic SLC12A7 chr5 1085306 1085306 A C het . 3 +intronic SLC12A7 chr5 1085312 1085312 A C het . 4 +intronic SLC12A7 chr5 1085315 1085315 C A het . 5 +intronic SLC12A7 chr5 1085604 1085604 C A het . 4 +intronic SLC12A7 chr5 1093609 1093609 - GGGCGGGGACT het . 8 +intronic SLC12A7 chr5 1093860 1093861 CC GT het . 9 +intronic SLC12A7 chr5 1096610 1096610 G A het . 2 +intergenic SLC12A7(dist=36116),CTD-3080P12.3(dist=24923) chr5 1148288 1148288 G C het . 4 +intergenic SLC12A7(dist=37534),CTD-3080P12.3(dist=23505) chr5 1149706 1149706 T A het . 2 +intergenic SLC12A7(dist=38042),CTD-3080P12.3(dist=22997) chr5 1150214 1150214 G A het . 6 +intergenic CTD-3080P12.3(dist=7949),SLC6A19(dist=15041) chr5 1186669 1186669 G A het . 4 +intergenic CTD-3080P12.3(dist=7967),SLC6A19(dist=15023) chr5 1186687 1186687 T G het . 2 +intergenic CTD-3080P12.3(dist=20785),SLC6A19(dist=2205) chr5 1199505 1199505 A C het . 2 +intronic SLC6A19 chr5 1204265 1204265 G T het . 2 +intronic SLC6A19 chr5 1209185 1209185 C G het . 2 +intronic SLC6A19 chr5 1209193 1209193 C G het . 2 +intronic SLC6A19 chr5 1213223 1213223 C T het . 4 +intronic SLC6A18 chr5 1237417 1237417 G T het . 5 +downstream TERT(dist=337) chr5 1252950 1252950 T C het . 2 +intronic TERT chr5 1258822 1258822 T C het . 38 +exonic TERT chr5 1279439 1279439 G A het . 24 +exonic TERT chr5 1282673 1282673 C A het . 37 +intronic TERT chr5 1286516 1286516 C A het . 2 +intronic TERT chr5 1288547 1288547 T C het . 1 +intronic CLPTM1L chr5 1334869 1334869 - AAAC het . 2 +intronic SLC6A3 chr5 1411272 1411272 C A het . 5 +intronic SLC6A3 chr5 1415036 1415036 T G het . 14 +intronic SLC6A3 chr5 1442981 1442981 A C het . 7 +intergenic LOC728613(dist=5781),MIR4277(dist=68999) chr5 1639901 1639901 T C het . 2 +intergenic MIR4277(dist=37880),MRPL36(dist=51636) chr5 1746863 1746863 A G het . 1 +upstream NDUFS6(dist=70) chr5 1801426 1801426 G C het . 3 +upstream NDUFS6(dist=69) chr5 1801427 1801427 - G het . 3 +upstream NDUFS6(dist=64) chr5 1801432 1801432 A G het . 3 +intronic NDUFS6 chr5 1801689 1801689 A C het . 6 +intronic NDUFS6 chr5 1814369 1814369 C T het . 12 +intronic NDUFS6 chr5 1814396 1814399 TGTA - het . 17 +intronic IRX4 chr5 1882365 1882365 C A het . 1 +intronic IRX4 chr5 1882386 1882386 C G het . 2 +intronic C5orf38 chr5 2755031 2755031 A G het . 2 +intergenic LOC105374620(dist=17484),LINC01377(dist=239823) chr5 2938126 2938126 G A het . 1 +intergenic LOC105374620(dist=229197),LINC01377(dist=28110) chr5 3149839 3149839 T C het . 2 +intergenic IRX1(dist=71226),LINC02114(dist=1100851) chr5 3672743 3672743 A T het . 2 +intergenic IRX1(dist=218013),LINC02114(dist=954064) chr5 3819530 3819530 G A het . 1 +intergenic IRX1(dist=494135),LINC02114(dist=677942) chr5 4095652 4095652 T C het . 4 +intergenic IRX1(dist=518384),LINC02114(dist=653693) chr5 4119901 4119901 G C het . 3 +intergenic IRX1(dist=758669),LINC02114(dist=413408) chr5 4360186 4360186 - A het . 6 +intergenic IRX1(dist=960158),LINC02114(dist=211919) chr5 4561675 4561675 A C het . 4 +intergenic LINC02114(dist=142638),LINC01020(dist=116856) chr5 4917616 4917616 A - het . 3 +intergenic LINC02114(dist=142640),LINC01020(dist=116854) chr5 4917618 4917618 A G het . 3 +intergenic LINC02114(dist=177857),LINC01020(dist=81637) chr5 4952835 4952835 G A het . 3 +intergenic LINC02121(dist=39365),CTD-2297D10.2(dist=14409) chr5 5117789 5117789 C T het . 2 +intronic ADAMTS16 chr5 5200220 5200220 - TC het . 6 +intronic ADAMTS16 chr5 5201978 5201978 G A het . 3 +intronic ADAMTS16 chr5 5236912 5236916 AAACA - het . 4 +intronic ADAMTS16 chr5 5260863 5260863 C T het . 3 +intronic ADAMTS16 chr5 5260894 5260894 T C het . 2 +intronic ADAMTS16 chr5 5260903 5260903 G T het . 2 +intronic ADAMTS16 chr5 5275966 5275966 A G het . 2 +intronic ADAMTS16 chr5 5275978 5275978 T - het . 2 +intronic ADAMTS16 chr5 5275987 5275987 T A het . 1 +intronic ADAMTS16 chr5 5280086 5280086 T - het . 4 +intronic ADAMTS16 chr5 5280098 5280098 A C het . 4 +intronic ADAMTS16 chr5 5302533 5302533 G T het . 3 +intergenic ADAMTS16(dist=27877),ICE1(dist=74494) chr5 5348292 5348292 G A het . 2 +intergenic ADAMTS16(dist=95100),ICE1(dist=7271) chr5 5415515 5415515 T A het . 1 +intronic ICE1 chr5 5441021 5441021 G A het . 8 +intronic ICE1 chr5 5447444 5447444 A G het . 7 +exonic ICE1 chr5 5464483 5464483 C A het . 28 +intronic ICE1 chr5 5476250 5476250 - G het . 7 +downstream ICE1(dist=897) chr5 5491244 5491244 - C het . 2 +intergenic ICE1(dist=14247),LINC02145(dist=805960) chr5 5504594 5504594 T C het . 4 +intergenic ICE1(dist=44992),LINC02145(dist=775215) chr5 5535339 5535339 A G het . 2 +intergenic ICE1(dist=53485),LINC02145(dist=766722) chr5 5543832 5543832 T - het . 2 +intergenic ICE1(dist=53493),LINC02145(dist=766714) chr5 5543840 5543840 T C het . 2 +intergenic ICE1(dist=317114),LINC02145(dist=503093) chr5 5807461 5807461 G A het . 2 +intergenic ICE1(dist=320063),LINC02145(dist=500109) chr5 5810410 5810445 ATATATATATATATATGTGTGTGTGTGTATATATAT - het . 2 +intergenic ICE1(dist=353517),LINC02145(dist=466690) chr5 5843864 5843864 C T het . 2 +intergenic ICE1(dist=367502),LINC02145(dist=452705) chr5 5857849 5857849 A G het . 3 +intergenic ICE1(dist=412067),LINC02145(dist=408140) chr5 5902414 5902414 C A het . 4 +intergenic ICE1(dist=424897),LINC02145(dist=395310) chr5 5915244 5915244 G T het . 3 +intergenic ICE1(dist=464720),LINC02145(dist=355487) chr5 5955067 5955067 C T het . 3 +intergenic ICE1(dist=513580),LINC02145(dist=306627) chr5 6003927 6003927 - CAAT het . 2 +intergenic ICE1(dist=548548),LINC02145(dist=271659) chr5 6038895 6038895 - T het . 2 +intergenic ICE1(dist=632942),LINC02145(dist=187265) chr5 6123289 6123289 G A het . 4 +intergenic ICE1(dist=680587),LINC02145(dist=139620) chr5 6170934 6170934 C T het . 2 +intergenic ICE1(dist=729000),LINC02145(dist=91207) chr5 6219347 6219347 C G het . 2 +intergenic ICE1(dist=729016),LINC02145(dist=91191) chr5 6219363 6219363 G A het . 2 +intergenic ICE1(dist=736694),LINC02145(dist=83513) chr5 6227041 6227041 G A het . 2 +intergenic ICE1(dist=755994),LINC02145(dist=64209) chr5 6246341 6246345 AAAAG - het . 7 +intergenic ICE1(dist=768669),LINC02145(dist=51538) chr5 6259016 6259016 A C het . 3 +intergenic ICE1(dist=793816),LINC02145(dist=26391) chr5 6284163 6284163 G A het . 2 +UTR5 MED10(NM_032286:c.-18C>G) chr5 6378614 6378614 G C het . 12 +intergenic MED10(dist=35443),UBE2QL1(dist=34654) chr5 6414082 6414082 T G het . 4 +intergenic MED10(dist=35447),UBE2QL1(dist=34649) chr5 6414086 6414087 TT - het . 4 +intergenic MED10(dist=67099),UBE2QL1(dist=2989) chr5 6445738 6445747 TTTCTTTTCT - het . 4 +intergenic MED10(dist=68092),UBE2QL1(dist=2005) chr5 6446731 6446731 - ACAA het . 3 +intronic UBE2QL1 chr5 6450941 6450941 T C het . 2 +intergenic UBE2QL1(dist=50104),LINC01018(dist=35311) chr5 6546938 6546938 T - het . 2 +intergenic UBE2QL1(dist=58457),LINC01018(dist=26958) chr5 6555291 6555291 C A het . 3 +intergenic UBE2QL1(dist=67528),LINC01018(dist=17887) chr5 6564362 6564362 G C het . 3 +intergenic UBE2QL1(dist=84014),LINC01018(dist=1401) chr5 6580848 6580848 G C het . 3 +intergenic LINC01018(dist=1068),NSUN2(dist=9671) chr5 6589681 6589681 G A het . 2 +exonic NSUN2 chr5 6605488 6605488 C A het . 26 +intronic NSUN2 chr5 6607126 6607128 AAC - het . 9 +intronic NSUN2 chr5 6623406 6623406 A - het . 10 +intronic NSUN2 chr5 6623432 6623432 - A het . 14 +intronic TENT4A chr5 6737571 6737571 A G het . 18 +intronic TENT4A chr5 6737576 6737576 G A het . 19 +intergenic TENT4A(dist=35212),LINC02236(dist=3613) chr5 6792373 6792380 TTTGTTTG - het . 3 +ncRNA_intronic LINC02236 chr5 6808413 6808413 A T het . 2 +intergenic MIR4278(dist=5274),MIR4454(dist=436108) chr5 6833308 6833308 C G het . 1 +intergenic MIR4278(dist=69070),MIR4454(dist=372312) chr5 6897104 6897104 T C het . 3 +intergenic MIR4278(dist=69274),MIR4454(dist=372108) chr5 6897308 6897308 A T het . 4 +intergenic MIR4278(dist=100600),MIR4454(dist=340782) chr5 6928634 6928634 A G het . 2 +intergenic MIR4278(dist=105635),MIR4454(dist=335747) chr5 6933669 6933669 T - het . 1 +intergenic MIR4278(dist=105655),MIR4454(dist=335727) chr5 6933689 6933689 C T het . 2 +intergenic MIR4278(dist=125272),MIR4454(dist=316110) chr5 6953306 6953306 A C het . 2 +intergenic MIR4278(dist=161044),MIR4454(dist=280338) chr5 6989078 6989078 - AAAG het . 3 +intergenic MIR4278(dist=243842),MIR4454(dist=197540) chr5 7071876 7071876 - C het . 1 +intergenic MIR4278(dist=271834),MIR4454(dist=169548) chr5 7099868 7099868 C T het . 2 +intergenic MIR4278(dist=288019),MIR4454(dist=153363) chr5 7116053 7116053 C T het . 2 +intergenic MIR4278(dist=360751),MIR4454(dist=80631) chr5 7188785 7188785 A G het . 2 +intergenic MIR4278(dist=376098),MIR4454(dist=65284) chr5 7204132 7204132 T C het . 3 +intergenic MIR4278(dist=386006),MIR4454(dist=55376) chr5 7214040 7214040 G T het . 2 +intergenic MIR4278(dist=388618),MIR4454(dist=52764) chr5 7216652 7216652 A T het . 4 +intergenic MIR4278(dist=390542),MIR4454(dist=50840) chr5 7218576 7218576 G T het . 2 +intergenic MIR4278(dist=393876),MIR4454(dist=47506) chr5 7221910 7221910 G T het . 2 +intergenic MIR4278(dist=415199),MIR4454(dist=26183) chr5 7243233 7243233 A G het . 1 +intergenic MIR4278(dist=415209),MIR4454(dist=26173) chr5 7243243 7243243 A G het . 2 +intergenic MIR4278(dist=420837),MIR4454(dist=20545) chr5 7248871 7248871 A T het . 2 +intergenic MIR4454(dist=7808),LOC442132(dist=24168) chr5 7277275 7277275 - T het . 4 +downstream LOC442132(dist=69) chr5 7301374 7301374 C T het . 2 +ncRNA_intronic LOC442132 chr5 7306522 7306522 G A het . 4 +intergenic LOC442132(dist=22362),LINC02123(dist=17910) chr5 7329189 7329189 T A het . 1 +intergenic LOC442132(dist=22365),LINC02123(dist=17907) chr5 7329192 7329192 A T het . 1 +intergenic LOC442132(dist=35662),LINC02123(dist=4610) chr5 7342489 7342489 T G het . 2 +intergenic LINC02123(dist=7829),ADCY2(dist=40424) chr5 7355919 7355919 T C het . 2 +intergenic LINC02123(dist=30764),ADCY2(dist=17489) chr5 7378854 7378854 C G het . 1 +intronic ADCY2 chr5 7447525 7447525 T C het . 2 +intronic ADCY2 chr5 7584470 7584470 G A het . 1 +intronic ADCY2 chr5 7688165 7688168 CAAA - het . 2 +intronic ADCY2 chr5 7688171 7688171 G A het . 2 +intronic ADCY2 chr5 7713468 7713468 G A het . 3 +intronic ADCY2 chr5 7719005 7719005 G C het . 4 +intronic ADCY2 chr5 7723181 7723181 A G het . 4 +intronic ADCY2 chr5 7723228 7723230 GAG - het . 3 +intronic ADCY2 chr5 7729607 7729607 G A het . 3 +intronic ADCY2 chr5 7736067 7736067 T C het . 4 +intronic ADCY2 chr5 7742025 7742025 - ATC het . 2 +intronic ADCY2 chr5 7742208 7742208 A G het . 1 +intronic ADCY2 chr5 7746427 7746427 T C het . 3 +exonic ADCY2 chr5 7757684 7757715 GGCCGTGTTCAACATGGTAAGTCCCAGAGCAC - het . 13 +intronic ADCY2 chr5 7758839 7758847 AGGGAGAGC - het . 2 +intronic ADCY2 chr5 7758864 7758864 A - het . 2 +intronic ADCY2 chr5 7763151 7763151 - TTTC het . 13 +intronic ADCY2 chr5 7763164 7763164 T G het . 10 +intronic ADCY2 chr5 7826321 7826321 C G het . 1 +intronic FASTKD3 chr5 7861619 7861619 C T het . 5 +intronic FASTKD3 chr5 7861638 7861638 C T het . 5 +intronic FASTKD3 chr5 7862926 7862926 T C het . 3 +intronic MTRR chr5 7871264 7871266 CTT - het . 3 +intronic MTRR chr5 7885794 7885794 - TC het . 11 +intergenic MTRR(dist=366134),LINC02226(dist=66218) chr5 8267378 8267378 T - het . 2 +intergenic MIR4458HG(dist=338528),LINC02199(dist=38105) chr5 8801737 8801739 AAA - het . 1 +ncRNA_intronic LINC02199 chr5 8857503 8857503 G A het . 2 +intergenic LINC02199(dist=97190),SEMA5A(dist=56312) chr5 8978826 8978826 G A het . 2 +intergenic LINC02199(dist=97206),SEMA5A(dist=56296) chr5 8978842 8978842 C A het . 1 +intergenic LINC02199(dist=98409),SEMA5A(dist=55093) chr5 8980045 8980045 C T het . 1 +intergenic LINC02199(dist=142894),SEMA5A(dist=10608) chr5 9024530 9024530 G C het . 2 +intronic SEMA5A chr5 9076316 9076318 AAA - het . 4 +intronic SEMA5A chr5 9135692 9135692 A G het . 2 +intronic SEMA5A chr5 9144667 9144667 T A het . 1 +intronic SEMA5A chr5 9159663 9159663 C - het . 2 +intronic SEMA5A chr5 9220707 9220707 G A het . 2 +intronic SEMA5A chr5 9234050 9234050 G T het . 1 +intronic SEMA5A chr5 9422355 9422355 C T het . 1 +intronic SEMA5A chr5 9424130 9424130 G A het . 1 +intronic SEMA5A chr5 9433320 9433320 A G het . 2 +intronic SEMA5A chr5 9456592 9456592 - A het . 3 +intronic SEMA5A chr5 9504501 9504501 G C het . 1 +intronic SEMA5A chr5 9508082 9508082 T C het . 1 +intronic SEMA5A chr5 9509018 9509018 G A het . 1 +intronic SEMA5A chr5 9523300 9523300 A G het . 2 +intronic SEMA5A chr5 9535516 9535516 G C het . 1 +intronic SEMA5A chr5 9541693 9541693 G T het . 2 +intronic SEMA5A chr5 9542951 9542951 C A het . 4 +downstream SNHG18(dist=887) chr5 9551296 9551296 A G het . 2 +intergenic SNHG18(dist=11395),TAS2R1(dist=67305) chr5 9561804 9561804 T C het . 2 +intergenic SNHG18(dist=16645),TAS2R1(dist=62052) chr5 9567054 9567057 AAAC - het . 5 +intergenic SNHG18(dist=24398),TAS2R1(dist=54302) chr5 9574807 9574807 G A het . 1 +intergenic SNHG18(dist=24402),TAS2R1(dist=54298) chr5 9574811 9574811 A C het . 1 +intergenic SNHG18(dist=60597),TAS2R1(dist=18103) chr5 9611006 9611006 T C het . 2 +intergenic SNHG18(dist=71705),TAS2R1(dist=6993) chr5 9622114 9622116 AAA - het . 3 +ncRNA_intronic LINC02112 chr5 9672360 9672360 A G het . 1 +ncRNA_intronic LINC02112 chr5 9733933 9733933 A G het . 2 +ncRNA_intronic LINC02112 chr5 9782994 9782994 T G het . 1 +ncRNA_intronic LINC02112 chr5 9801465 9801465 G A het . 2 +ncRNA_intronic LINC02112 chr5 9850436 9850436 T C het . 1 +ncRNA_intronic LINC02112 chr5 9860402 9860402 C A het . 2 +ncRNA_intronic LINC02112 chr5 9862713 9862715 ATG - het . 2 +intergenic LINC02112(dist=73023),FAM173B(dist=248661) chr5 9976959 9976959 T C het . 1 +intergenic LINC02112(dist=74520),FAM173B(dist=247164) chr5 9978456 9978456 C T het . 1 +intergenic LINC02112(dist=95734),FAM173B(dist=225950) chr5 9999670 9999670 G A het . 2 +intergenic LINC02112(dist=95748),FAM173B(dist=225936) chr5 9999684 9999684 A G het . 2 +intergenic LINC02112(dist=99398),FAM173B(dist=222286) chr5 10003334 10003334 A T het . 2 +intergenic LINC02112(dist=105535),FAM173B(dist=216149) chr5 10009471 10009471 A - het . 3 +intergenic LINC02112(dist=107220),FAM173B(dist=214464) chr5 10011156 10011156 T C het . 1 +intergenic LINC02112(dist=114354),FAM173B(dist=207330) chr5 10018290 10018290 G A het . 1 +intergenic LINC02112(dist=118740),FAM173B(dist=202943) chr5 10022676 10022677 AA - het . 4 +intergenic LINC02112(dist=118765),FAM173B(dist=202919) chr5 10022701 10022701 G A het . 5 +intergenic LINC02112(dist=150550),FAM173B(dist=171134) chr5 10054486 10054486 T C het . 5 +intergenic LINC02112(dist=175496),FAM173B(dist=146188) chr5 10079432 10079432 A T het . 6 +intergenic LINC02112(dist=204441),FAM173B(dist=117243) chr5 10108377 10108377 A C het . 2 +intergenic LINC02112(dist=204449),FAM173B(dist=117235) chr5 10108385 10108385 T A het . 2 +intergenic LINC02112(dist=238565),FAM173B(dist=83119) chr5 10142501 10142501 C A het . 5 +intergenic LINC02112(dist=250586),FAM173B(dist=71098) chr5 10154522 10154522 G A het . 2 +intergenic LINC02112(dist=308761),FAM173B(dist=12923) chr5 10212697 10212697 A - het . 3 +intronic FAM173B chr5 10229829 10229829 G T het . 2 +intronic FAM173B chr5 10231316 10231316 G C het . 1 +intronic FAM173B chr5 10233731 10233731 A G het . 2 +intronic FAM173B chr5 10245538 10245538 T A het . 4 +intronic CCT5 chr5 10255910 10255910 C A het . 26 +intronic CCT5 chr5 10262538 10262538 C A het . 35 +exonic CMBL chr5 10280744 10280744 C A het . 20 +intronic CMBL chr5 10285804 10285804 T C het . 4 +intergenic CMBL(dist=34008),MARCH6(dist=11575) chr5 10342176 10342176 G A het . 4 +intergenic CMBL(dist=34023),MARCH6(dist=11560) chr5 10342191 10342191 G A het . 4 +UTR5 MARCH6(NM_001270661:c.-138C>A,NM_001270660:c.-138C>A,NM_005885:c.-138C>A) chr5 10353873 10353873 C A het . 19 +intronic MARCH6 chr5 10394912 10394914 TTT - het . 19 +intronic MARCH6 chr5 10402088 10402088 C A het . 28 +intronic MARCH6 chr5 10430397 10430397 - T het . 2 +intergenic MIR6131(dist=11052),LINC02212(dist=4319) chr5 10489309 10489320 AGAGAGAGAGAC - het . 5 +ncRNA_intronic LINC02213 chr5 10510027 10510027 - AAAGAAAGG het . 6 +ncRNA_intronic LINC02213 chr5 10510051 10510051 G A het . 5 +ncRNA_intronic LINC02213 chr5 10518318 10518318 T G het . 3 +intergenic LINC02213(dist=6771),ANKRD33B(dist=35468) chr5 10528967 10528967 A C het . 3 +intergenic LINC02213(dist=11571),ANKRD33B(dist=30668) chr5 10533767 10533767 A G het . 2 +intergenic LINC02213(dist=23022),ANKRD33B(dist=19217) chr5 10545218 10545218 A - het . 3 +intergenic LINC02213(dist=31367),ANKRD33B(dist=10872) chr5 10553563 10553563 A G het . 2 +intergenic LINC02213(dist=34115),ANKRD33B(dist=8124) chr5 10556311 10556311 A - het . 3 +intronic ANKRD33B chr5 10572021 10572021 A G het . 2 +intronic ANKRD33B chr5 10572291 10572291 A G het . 2 +intronic ANKRD33B chr5 10591132 10591132 G C het . 3 +intronic ANKRD33B chr5 10634577 10634577 C T het . 2 +intronic ANKRD33B chr5 10634968 10634968 C T het . 3 +intronic ANKRD33B chr5 10641321 10641323 TCT - het . 1 +intronic ANKRD33B chr5 10643016 10643016 C T het . 3 +intronic ANKRD33B chr5 10644023 10644023 C T het . 6 +UTR3 ANKRD33B(NM_001164440:c.*27_*32delGGGGCT) chr5 10650252 10650257 GGGGCT - het . 5 +intergenic ANKRD33B(dist=6650),DAP(dist=14764) chr5 10664578 10664578 A G het . 4 +intronic DAP chr5 10740747 10740747 G A het . 2 +intronic DAP chr5 10748231 10748231 C T het . 10 +intergenic DAP(dist=38065),CTNND2(dist=172502) chr5 10799452 10799452 T G het . 2 +exonic CTNND2 chr5 11111117 11111117 C T het . 6 +intronic CTNND2 chr5 11274705 11274705 T A het . 1 +intronic CTNND2 chr5 11381805 11381805 T C het . 2 +ncRNA_intronic LINC01194 chr5 12698634 12698634 G T het . 2 +ncRNA_intronic LINC02220 chr5 12949196 12949196 A - het . 2 +ncRNA_intronic LINC02220 chr5 12976760 12976760 T C het . 3 +intergenic LINC02220(dist=60142),DNAH5(dist=597297) chr5 13093140 13093140 G A het . 1 +intergenic LINC02220(dist=65387),DNAH5(dist=592052) chr5 13098385 13098385 - TTG het . 2 +intergenic LINC02220(dist=254175),DNAH5(dist=403264) chr5 13287173 13287173 C G het . 1 +intergenic LINC02220(dist=259231),DNAH5(dist=398208) chr5 13292229 13292229 - C het . 3 +intergenic LINC02220(dist=259240),DNAH5(dist=398198) chr5 13292238 13292239 AG - het . 3 +intergenic LINC02220(dist=259262),DNAH5(dist=398177) chr5 13292260 13292260 G A het . 3 +intergenic LINC02220(dist=263548),DNAH5(dist=393891) chr5 13296546 13296546 G A het . 2 +intergenic LINC02220(dist=306344),DNAH5(dist=351095) chr5 13339342 13339342 G A het . 1 +intergenic LINC02220(dist=565461),DNAH5(dist=91978) chr5 13598459 13598459 A G het . 2 +intergenic LINC02220(dist=566666),DNAH5(dist=90773) chr5 13599664 13599664 A - het . 2 +intronic DNAH5 chr5 13701699 13701699 G A het . 13 +exonic DNAH5 chr5 13716660 13716660 C A het . 39 +intronic DNAH5 chr5 13727440 13727440 C A het . 10 +exonic DNAH5 chr5 13727675 13727675 C A het . 46 +exonic DNAH5 chr5 13776650 13776650 C A het . 51 +intronic DNAH5 chr5 13781671 13781671 - A het . 5 +intronic DNAH5 chr5 13814450 13814450 C G het . 2 +intronic DNAH5 chr5 13820656 13820656 G A het . 32 +exonic DNAH5 chr5 13829687 13829687 C A het . 36 +intronic DNAH5 chr5 13830008 13830037 TTTCAAAAGGAGGTAAAGTTACAATCCCAA - het . 22 +intronic DNAH5 chr5 13830048 13830048 G A het . 25 +intronic DNAH5 chr5 13842052 13842052 A T het . 16 +intronic DNAH5 chr5 13859807 13859807 G T het . 21 +exonic DNAH5 chr5 13865980 13865980 T C het . 29 +intronic DNAH5 chr5 13866450 13866450 A G het . 28 +intronic DNAH5 chr5 13867725 13867725 - AA het . 10 +intronic DNAH5 chr5 13871314 13871314 C T het . 6 +intronic DNAH5 chr5 13871330 13871330 T C het . 4 +intronic DNAH5 chr5 13876747 13876747 C T het . 25 +intronic DNAH5 chr5 13886245 13886247 AAA - het . 8 +intronic DNAH5 chr5 13886352 13886352 C T het . 12 +intergenic DNAH5(dist=57459),TRIO(dist=141763) chr5 14002048 14002048 G A het . 2 +intergenic DNAH5(dist=60068),TRIO(dist=139154) chr5 14004657 14004657 T C het . 2 +intergenic DNAH5(dist=138442),TRIO(dist=60780) chr5 14083031 14083031 C T het . 2 +intergenic DNAH5(dist=145055),TRIO(dist=54167) chr5 14089644 14089644 C T het . 1 +intergenic DNAH5(dist=150558),TRIO(dist=48664) chr5 14095147 14095147 C T het . 1 +intronic TRIO chr5 14184211 14184211 T C het . 4 +intronic TRIO chr5 14202402 14202402 G T het . 2 +intronic TRIO chr5 14209860 14209860 C T het . 1 +intronic TRIO chr5 14212073 14212073 - A het . 2 +intronic TRIO chr5 14324226 14324226 G T het . 3 +intronic TRIO chr5 14400332 14400332 C A het . 3 +intronic TRIO chr5 14402871 14402871 A G het . 1 +intronic TRIO chr5 14450478 14450478 T G het . 2 +intronic TRIO chr5 14465628 14465628 C T het . 26 +intergenic TRIO(dist=6270),OTULINL(dist=65308) chr5 14516583 14516583 G C het . 1 +intergenic TRIO(dist=20680),OTULINL(dist=50898) chr5 14530993 14530993 C T het . 2 +intergenic TRIO(dist=48530),OTULINL(dist=23048) chr5 14558843 14558843 A - het . 2 +intergenic OTULINL(dist=24009),SNORD141A(dist=12091) chr5 14640296 14640296 T A het . 16 +intronic ANKH chr5 14775297 14775297 G A het . 2 +intronic ANKH chr5 14781744 14781744 T C het . 2 +intronic ANKH chr5 14796277 14796277 - T het . 12 +intronic ANKH chr5 14796563 14796563 A - het . 3 +intronic ANKH chr5 14796586 14796587 AA - het . 2 +intronic ANKH chr5 14798587 14798587 G A het . 16 +intronic ANKH chr5 14798595 14798595 T C het . 15 +intronic ANKH chr5 14798600 14798600 - T het . 7 +intronic ANKH chr5 14818366 14818366 T C het . 1 +intronic ANKH chr5 14856042 14856042 C T het . 2 +intronic ANKH chr5 14858864 14858868 AAATA - het . 3 +UTR5 ANKH(NM_054027:c.-65_-72delGTCGCCCC) chr5 14871621 14871628 GGGGCGAC - het . 7 +intergenic ANKH(dist=115959),LINC02149(dist=203902) chr5 14987853 14987853 - AAAC het . 4 +intergenic ANKH(dist=271617),LINC02149(dist=48244) chr5 15143511 15143511 A G het . 1 +intergenic LINC02149(dist=14875),FBXL7(dist=218761) chr5 15281544 15281544 C T het . 2 +intergenic LINC02149(dist=111550),FBXL7(dist=122086) chr5 15378219 15378219 G T het . 2 +intergenic LINC02149(dist=147463),FBXL7(dist=86173) chr5 15414132 15414132 A C het . 1 +intergenic LINC02149(dist=147465),FBXL7(dist=86171) chr5 15414134 15414134 A G het . 1 +intergenic LINC02149(dist=161742),FBXL7(dist=71891) chr5 15428411 15428414 AGTT - het . 2 +intergenic LINC02149(dist=223112),FBXL7(dist=10524) chr5 15489781 15489781 C A het . 1 +intronic FBXL7 chr5 15599713 15599713 C G het . 1 +intronic FBXL7 chr5 15788803 15788803 T - het . 2 +intronic FBXL7 chr5 15822488 15822488 T A het . 2 +intergenic FBXL7(dist=112918),MARCH11(dist=14592) chr5 16052823 16052823 C T het . 8 +intronic MARCH11 chr5 16179125 16179125 C T het . 3 +intergenic LOC401176(dist=27959),LINC02150(dist=158341) chr5 16215129 16215129 - TAT het . 2 +intergenic LOC401176(dist=111240),LINC02150(dist=75060) chr5 16298410 16298410 G A het . 1 +UTR3 RETREG1(NM_019000:c.*71_*72insA,NM_001034850:c.*71_*72insA) chr5 16474778 16474778 - T het . 9 +UTR3 RETREG1(NM_019000:c.*55G>C,NM_001034850:c.*55G>C) chr5 16474795 16474795 C G het . 14 +intronic RETREG1 chr5 16551361 16551361 T C het . 3 +intronic RETREG1 chr5 16573851 16573851 G T het . 2 +intergenic LOC101929524(dist=12365),MYO10(dist=19573) chr5 16642443 16642443 A G het . 3 +intergenic LOC101929524(dist=20375),MYO10(dist=11563) chr5 16650453 16650453 G A het . 3 +intergenic LOC101929524(dist=20382),MYO10(dist=11556) chr5 16650460 16650460 T C het . 3 +intergenic LOC101929524(dist=20418),MYO10(dist=11518) chr5 16650496 16650498 TTT - het . 2 +intergenic LOC101929524(dist=20426),MYO10(dist=11512) chr5 16650504 16650504 T A het . 2 +intronic MYO10 chr5 16697807 16697807 A - het . 3 +intronic MYO10 chr5 16711366 16711366 A - het . 8 +intronic MYO10 chr5 16763569 16763569 C T het . 21 +intronic MYO10 chr5 16769008 16769008 C A het . 2 +intronic MYO10 chr5 16833327 16833330 TTTT - het . 2 +intronic MYO10 chr5 16916072 16916074 AAA - het . 14 +intronic MYO10 chr5 16929101 16929101 G A het . 2 +intergenic MYO10(dist=31395),BASP1-AS1(dist=162357) chr5 16967780 16967780 A T het . 1 +intergenic MYO10(dist=59845),BASP1-AS1(dist=133907) chr5 16996230 16996230 G T het . 2 +intergenic MYO10(dist=88489),BASP1-AS1(dist=105263) chr5 17024874 17024874 A G het . 1 +intergenic MYO10(dist=88893),BASP1-AS1(dist=104859) chr5 17025278 17025278 T C het . 3 +intergenic MYO10(dist=127059),BASP1-AS1(dist=66693) chr5 17063444 17063444 A G het . 3 +intergenic MYO10(dist=149458),BASP1-AS1(dist=44294) chr5 17085843 17085843 T C het . 3 +ncRNA_intronic BASP1-AS1 chr5 17207786 17207786 G A het . 4 +intronic BASP1 chr5 17233985 17233985 G A het . 2 +intergenic BASP1(dist=42074),LINC02111(dist=59987) chr5 17319028 17319028 A G het . 2 +intergenic BASP1(dist=65894),LINC02111(dist=36167) chr5 17342848 17342848 G A het . 2 +intergenic LINC02111(dist=3700),LINC02217(dist=13009) chr5 17391119 17391119 - C het . 3 +intergenic LINC02111(dist=3716),LINC02217(dist=12993) chr5 17391135 17391135 G T het . 2 +intergenic LINC02111(dist=3741),LINC02217(dist=12968) chr5 17391160 17391160 G A het . 1 +intergenic LINC02218(dist=158795),H3.Y(dist=12285) chr5 17642850 17642850 C G het . 1 +intergenic LINC02218(dist=159983),H3.Y(dist=11097) chr5 17644038 17644038 T A het . 3 +intergenic LINC02218(dist=162301),H3.Y(dist=8779) chr5 17646356 17646356 T - het . 2 +exonic H3.Y chr5 17655423 17655423 G A het . 4 +intergenic H3.Y(dist=90582),LINC02223(dist=61054) chr5 17746329 17746329 A G het . 1 +intergenic H3.Y(dist=90591),LINC02223(dist=61045) chr5 17746338 17746338 - TT het . 1 +intergenic H3.Y(dist=134581),LINC02223(dist=17055) chr5 17790328 17790328 A G het . 2 +intergenic H3.Y(dist=134584),LINC02223(dist=17052) chr5 17790331 17790331 C T het . 2 +ncRNA_intronic LINC02223 chr5 17835102 17835102 T C het . 2 +ncRNA_intronic LINC02223 chr5 17842980 17842980 G A het . 3 +ncRNA_intronic LINC02223 chr5 17872982 17872982 A T het . 2 +ncRNA_intronic LINC02223 chr5 17919562 17919562 A G het . 3 +intergenic LINC02223(dist=49012),CDH18(dist=1491795) chr5 17979610 17979610 G T het . 2 +intergenic LINC02223(dist=49016),CDH18(dist=1491791) chr5 17979614 17979614 - T het . 2 +intergenic LINC02223(dist=49027),CDH18(dist=1491780) chr5 17979625 17979625 - T het . 2 +intergenic LINC02223(dist=176729),CDH18(dist=1364078) chr5 18107327 18107327 T A het . 1 +intergenic LINC02223(dist=289765),CDH18(dist=1251042) chr5 18220363 18220363 T G het . 1 +intergenic LINC02223(dist=379161),CDH18(dist=1161646) chr5 18309759 18309759 C T het . 3 +intergenic LINC02223(dist=379174),CDH18(dist=1161633) chr5 18309772 18309772 G A het . 3 +intergenic LINC02223(dist=384005),CDH18(dist=1156802) chr5 18314603 18314603 G A het . 2 +intergenic LINC02223(dist=384030),CDH18(dist=1156777) chr5 18314628 18314628 G T het . 2 +intergenic LINC02223(dist=404844),CDH18(dist=1135963) chr5 18335442 18335442 T A het . 2 +intergenic LINC02223(dist=418748),CDH18(dist=1122059) chr5 18349346 18349346 C T het . 1 +intergenic LINC02223(dist=465528),CDH18(dist=1075279) chr5 18396126 18396126 T C het . 1 +intergenic LINC02223(dist=465538),CDH18(dist=1075269) chr5 18396136 18396136 G A het . 2 +intergenic LINC02223(dist=604289),CDH18(dist=936518) chr5 18534887 18534887 C - het . 2 +intergenic LINC02223(dist=743921),CDH18(dist=796886) chr5 18674519 18674519 C A het . 2 +intergenic LINC02223(dist=748716),CDH18(dist=792091) chr5 18679314 18679314 G T het . 1 +intergenic LINC02223(dist=995142),CDH18(dist=545662) chr5 18925740 18925743 CTTT - het . 4 +intergenic LINC02223(dist=1017719),CDH18(dist=523088) chr5 18948317 18948317 G A het . 5 +intergenic LINC02223(dist=1017748),CDH18(dist=523059) chr5 18948346 18948346 G T het . 5 +intergenic LINC02223(dist=1021523),CDH18(dist=519284) chr5 18952121 18952121 C T het . 1 +intergenic LINC02223(dist=1023235),CDH18(dist=517572) chr5 18953833 18953833 A T het . 1 +intergenic LINC02223(dist=1043882),CDH18(dist=496925) chr5 18974480 18974480 - A het . 3 +intergenic LINC02223(dist=1081559),CDH18(dist=459248) chr5 19012157 19012157 G C het . 2 +intergenic LINC02223(dist=1134882),CDH18(dist=405925) chr5 19065480 19065480 T - het . 2 +intergenic LINC02223(dist=1228688),CDH18(dist=312119) chr5 19159286 19159286 C T het . 2 +intergenic LINC02223(dist=1228693),CDH18(dist=312114) chr5 19159291 19159291 G T het . 2 +intergenic LINC02223(dist=1246094),CDH18(dist=294713) chr5 19176692 19176692 - C het . 2 +intergenic LINC02223(dist=1299168),CDH18(dist=241639) chr5 19229766 19229766 C T het . 2 +intronic CDH18 chr5 19603312 19603312 A T het . 2 +intronic CDH18 chr5 19612444 19612444 C A het . 7 +intronic CDH18 chr5 19708019 19708019 C A het . 4 +intronic CDH18 chr5 19741175 19741175 - AATT het . 3 +intronic CDH18 chr5 19741197 19741197 T C het . 2 +intronic CDH18 chr5 19795265 19795265 T C het . 1 +intronic CDH18 chr5 19857623 19857623 C A het . 2 +intronic CDH18 chr5 20235045 20235045 A G het . 2 +intronic CDH18 chr5 20244294 20244294 - G het . 2 +intronic CDH18 chr5 20305576 20305576 C T het . 22 +intronic CDH18 chr5 20338383 20338383 C A het . 2 +intronic CDH18 chr5 20338400 20338400 C A het . 1 +intronic CDH18 chr5 20411519 20411519 T C het . 2 +intronic CDH18 chr5 20458740 20458742 AAG - het . 1 +intronic CDH18 chr5 20503156 20503156 G A het . 2 +intronic CDH18 chr5 20566831 20566831 G T het . 2 +intergenic CDH18(dist=8418),LINC02241(dist=27549) chr5 20584400 20584400 G A het . 3 +intergenic CDH18(dist=12545),LINC02241(dist=23422) chr5 20588527 20588527 C T het . 2 +intergenic CDH18(dist=34247),LINC02241(dist=1720) chr5 20610229 20610229 - ATTTA het . 4 +ncRNA_intronic LINC02241 chr5 20635703 20635703 A - het . 3 +ncRNA_intronic LINC02241 chr5 20831672 20831672 C T het . 2 +ncRNA_intronic LINC02241 chr5 20831695 20831695 T - het . 2 +intergenic LINC02241(dist=68863),GUSBP1(dist=452924) chr5 21006665 21006665 T C het . 2 +intergenic LINC02241(dist=68876),GUSBP1(dist=452911) chr5 21006678 21006678 C T het . 2 +intergenic LINC02241(dist=134564),GUSBP1(dist=387223) chr5 21072366 21072366 G A het . 2 +intergenic LINC02241(dist=150485),GUSBP1(dist=371302) chr5 21088287 21088287 - A het . 4 +intergenic LINC02241(dist=222380),GUSBP1(dist=299406) chr5 21160182 21160183 TC - het . 1 +intergenic LINC02241(dist=236302),GUSBP1(dist=285485) chr5 21174104 21174104 A - het . 2 +intergenic LINC02241(dist=312140),GUSBP1(dist=209647) chr5 21249942 21249942 C T het . 1 +intergenic LINC02241(dist=459608),GUSBP1(dist=62179) chr5 21397410 21397410 G A het . 5 +intergenic LINC02241(dist=483324),GUSBP1(dist=38463) chr5 21421126 21421126 G A het . 2 +intergenic LINC02241(dist=502772),GUSBP1(dist=19015) chr5 21440574 21440574 G T het . 2 +ncRNA_intronic GUSBP1 chr5 21529493 21529493 T C het . 1 +ncRNA_intronic GUSBP1 chr5 21541197 21541197 T A het . 4 +ncRNA_intronic GUSBP1 chr5 21552827 21552827 A G het . 4 +ncRNA_intronic GUSBP1 chr5 21552851 21552851 T C het . 4 +ncRNA_intronic GUSBP1 chr5 21554543 21554543 A G het . 2 +ncRNA_intronic GUSBP1 chr5 21556071 21556071 A - het . 4 +ncRNA_intronic GUSBP1 chr5 21556089 21556089 A C het . 4 +ncRNA_intronic GUSBP1 chr5 21557278 21557278 C T het . 2 +ncRNA_intronic GUSBP1 chr5 21557280 21557280 C T het . 2 +ncRNA_intronic GUSBP1 chr5 21559804 21559804 T A het . 4 +ncRNA_intronic GUSBP1 chr5 21559811 21559811 T C het . 4 +ncRNA_intronic GUSBP1 chr5 21569409 21569409 C G het . 1 +ncRNA_intronic GUSBP1 chr5 21569808 21569808 A T het . 2 +ncRNA_intronic GUSBP1 chr5 21577396 21577396 C T het . 3 +intergenic GUSBP1(dist=13948),CDH12(dist=147546) chr5 21603429 21603429 A G het . 3 +intronic CDH12 chr5 21827485 21827485 C A het . 2 +intronic CDH12 chr5 21827499 21827499 T C het . 2 +intronic CDH12 chr5 22301833 22301833 C T het . 2 +intronic CDH12 chr5 22342739 22342739 A - het . 4 +intronic CDH12 chr5 22342743 22342747 CTTTC - het . 4 +intronic CDH12 chr5 22342882 22342882 A C het . 3 +intronic CDH12 chr5 22420108 22420108 T G het . 2 +intronic CDH12 chr5 22592625 22592625 C T het . 3 +intronic CDH12 chr5 22596051 22596054 AAAA - het . 2 +intronic CDH12 chr5 22614557 22614557 T A het . 1 +intronic CDH12 chr5 22716201 22716201 G C het . 4 +intergenic CDH12(dist=12509),PRDM9(dist=641478) chr5 22866240 22866240 G A het . 1 +intergenic CDH12(dist=100793),PRDM9(dist=553194) chr5 22954524 22954524 A T het . 2 +intergenic CDH12(dist=278916),PRDM9(dist=375071) chr5 23132647 23132647 A - het . 2 +intergenic CDH12(dist=321149),PRDM9(dist=332838) chr5 23174880 23174880 C T het . 2 +intergenic CDH12(dist=329329),PRDM9(dist=324658) chr5 23183060 23183060 A C het . 2 +intergenic CDH12(dist=382653),PRDM9(dist=271334) chr5 23236384 23236384 A C het . 1 +intergenic CDH12(dist=412778),PRDM9(dist=241209) chr5 23266509 23266509 G A het . 1 +intergenic CDH12(dist=443766),PRDM9(dist=210220) chr5 23297497 23297498 GC TT het . 3 +intergenic CDH12(dist=451511),PRDM9(dist=202476) chr5 23305242 23305242 G A het . 34 +intergenic CDH12(dist=564868),PRDM9(dist=89119) chr5 23418599 23418599 C T het . 2 +intergenic CDH12(dist=564895),PRDM9(dist=89092) chr5 23418626 23418626 C A het . 2 +intronic PRDM9 chr5 23510203 23510203 A G het . 8 +exonic PRDM9 chr5 23527777 23527777 C T het . 13 +intergenic PRDM9(dist=20023),C5orf17(dist=402728) chr5 23548729 23548729 A G het . 2 +intergenic PRDM9(dist=81022),C5orf17(dist=341729) chr5 23609728 23609728 T - het . 2 +intergenic PRDM9(dist=125163),C5orf17(dist=297588) chr5 23653869 23653869 T G het . 2 +intergenic PRDM9(dist=153860),C5orf17(dist=268891) chr5 23682566 23682566 - T het . 2 +intergenic PRDM9(dist=172127),C5orf17(dist=250624) chr5 23700833 23700833 T - het . 3 +intergenic PRDM9(dist=220699),C5orf17(dist=202052) chr5 23749405 23749405 A T het . 2 +intergenic PRDM9(dist=220730),C5orf17(dist=202021) chr5 23749436 23749436 G A het . 3 +intergenic PRDM9(dist=225720),C5orf17(dist=197031) chr5 23754426 23754426 A G het . 1 +intergenic PRDM9(dist=240474),C5orf17(dist=182277) chr5 23769180 23769180 A T het . 3 +intergenic PRDM9(dist=261631),C5orf17(dist=161120) chr5 23790337 23790337 T C het . 1 +intergenic PRDM9(dist=304734),C5orf17(dist=118017) chr5 23833440 23833440 G A het . 2 +intergenic PRDM9(dist=366697),C5orf17(dist=56054) chr5 23895403 23895403 C T het . 1 +ncRNA_intronic C5orf17 chr5 23979237 23979237 C T het . 2 +ncRNA_intronic C5orf17 chr5 23987027 23987027 G A het . 2 +ncRNA_intronic C5orf17 chr5 24007826 24007826 C A het . 2 +ncRNA_intronic C5orf17 chr5 24029809 24029809 G C het . 2 +ncRNA_intronic C5orf17 chr5 24051573 24051574 GA - het . 3 +ncRNA_intronic C5orf17 chr5 24130918 24130918 A C het . 1 +intronic CDH10 chr5 24504617 24504617 T G het . 2 +intronic CDH10 chr5 24521185 24521185 T C het . 2 +intronic CDH10 chr5 24521581 24521581 T A het . 2 +intronic CDH10 chr5 24572083 24572083 A - het . 2 +upstream CDH10(dist=362) chr5 24645449 24645449 C T het . 2 +intergenic CDH10(dist=40329),LINC02239(dist=149973) chr5 24685416 24685416 C G het . 2 +intergenic CDH10(dist=46422),LINC02239(dist=143880) chr5 24691509 24691509 A - het . 2 +intergenic CDH10(dist=46427),LINC02239(dist=143875) chr5 24691514 24691514 G T het . 2 +intergenic CDH10(dist=95319),LINC02239(dist=94983) chr5 24740406 24740406 A G het . 2 +intergenic LINC02239(dist=30083),LINC02228(dist=255639) chr5 24870775 24870775 C T het . 2 +intergenic LINC02239(dist=283946),LINC02228(dist=1776) chr5 25124638 25124638 C T het . 2 +intergenic LINC02211(dist=60081),CDH9(dist=1518239) chr5 25362470 25362470 G A het . 5 +intergenic LINC02211(dist=380929),CDH9(dist=1197391) chr5 25683318 25683318 G T het . 2 +intergenic LINC02211(dist=423927),CDH9(dist=1154393) chr5 25726316 25726316 A - het . 3 +intergenic LINC02211(dist=498259),CDH9(dist=1080061) chr5 25800648 25800648 G A het . 2 +intergenic LINC02211(dist=586896),CDH9(dist=991424) chr5 25889285 25889285 G A het . 2 +intergenic LINC02211(dist=608177),CDH9(dist=970143) chr5 25910566 25910566 A G het . 24 +intergenic LINC02211(dist=608203),CDH9(dist=970117) chr5 25910592 25910592 - AGA het . 9 +intergenic LINC02211(dist=608230),CDH9(dist=970090) chr5 25910619 25910619 C G het . 13 +intergenic LINC02211(dist=615454),CDH9(dist=962866) chr5 25917843 25917843 - G het . 3 +intergenic LINC02211(dist=660698),CDH9(dist=917622) chr5 25963087 25963087 T G het . 2 +intergenic LINC02211(dist=663848),CDH9(dist=914472) chr5 25966237 25966237 C T het . 2 +intergenic LINC02211(dist=901239),CDH9(dist=677077) chr5 26203628 26203632 AAAAG - het . 2 +intergenic LINC02211(dist=919690),CDH9(dist=658630) chr5 26222079 26222079 A C het . 2 +intergenic LINC02211(dist=995862),CDH9(dist=582458) chr5 26298251 26298251 T C het . 2 +intergenic LINC02211(dist=1160347),CDH9(dist=417973) chr5 26462736 26462736 A G het . 2 +intergenic LINC02211(dist=1193757),CDH9(dist=384563) chr5 26496146 26496146 T C het . 1 +intergenic LINC02211(dist=1217278),CDH9(dist=361042) chr5 26519667 26519667 - A het . 4 +intergenic LINC02211(dist=1333067),CDH9(dist=245253) chr5 26635456 26635456 G A het . 2 +intergenic LINC02211(dist=1442093),CDH9(dist=136227) chr5 26744482 26744482 C T het . 2 +intergenic LINC02211(dist=1531664),CDH9(dist=46656) chr5 26834053 26834053 C T het . 1 +intronic CDH9 chr5 26903575 26903575 G A het . 17 +intronic CDH9 chr5 26940125 26940125 A G het . 3 +intronic CDH9 chr5 26957600 26957600 C T het . 2 +intronic CDH9 chr5 26974439 26974439 A G het . 3 +intergenic CDH9(dist=14405),PURPL(dist=419305) chr5 27053094 27053094 A G het . 1 +intergenic CDH9(dist=111499),PURPL(dist=322211) chr5 27150188 27150188 G C het . 2 +intergenic CDH9(dist=190411),PURPL(dist=243298) chr5 27229100 27229101 TT - het . 5 +intergenic CDH9(dist=191309),PURPL(dist=242401) chr5 27229998 27229998 - TA het . 2 +intergenic PURPL(dist=251948),LINC02103(dist=538040) chr5 27748456 27748456 A G het . 1 +intergenic PURPL(dist=277315),LINC02103(dist=512673) chr5 27773823 27773823 A C het . 1 +intergenic PURPL(dist=283819),LINC02103(dist=506169) chr5 27780327 27780327 G A het . 2 +intergenic PURPL(dist=416624),LINC02103(dist=373362) chr5 27913132 27913134 TTT - het . 2 +intergenic PURPL(dist=416630),LINC02103(dist=373358) chr5 27913138 27913138 T A het . 2 +intergenic PURPL(dist=431994),LINC02103(dist=357994) chr5 27928502 27928502 G A het . 2 +intergenic PURPL(dist=602249),LINC02103(dist=187739) chr5 28098757 28098757 G A het . 2 +intergenic PURPL(dist=695068),LINC02103(dist=94920) chr5 28191576 28191576 A G het . 1 +intergenic PURPL(dist=698190),LINC02103(dist=91798) chr5 28194698 28194698 A T het . 3 +intergenic PURPL(dist=714248),LINC02103(dist=75740) chr5 28210756 28210756 - C het . 2 +intergenic PURPL(dist=714249),LINC02103(dist=75739) chr5 28210757 28210757 G A het . 2 +intergenic PURPL(dist=714556),LINC02103(dist=75432) chr5 28211064 28211064 A C het . 3 +intergenic LINC02103(dist=104835),LSP1P3(dist=534370) chr5 28392607 28392607 G A het . 4 +intergenic LINC02103(dist=187023),LSP1P3(dist=452182) chr5 28474795 28474795 G A het . 2 +intergenic LINC02103(dist=206830),LSP1P3(dist=432375) chr5 28494602 28494602 T C het . 1 +intergenic LINC02103(dist=389173),LSP1P3(dist=250032) chr5 28676945 28676945 T C het . 3 +intergenic LINC02103(dist=478661),LSP1P3(dist=160541) chr5 28766433 28766436 AGAG - het . 2 +intergenic LINC02103(dist=530666),LSP1P3(dist=108539) chr5 28818438 28818438 C A het . 4 +intergenic LOC101929645(dist=33398),LINC02109(dist=36882) chr5 29106728 29106728 A T het . 2 +intergenic LOC101929645(dist=60309),LINC02109(dist=9967) chr5 29133639 29133643 AAAAC - het . 2 +intergenic LINC02109(dist=60494),LINC02064(dist=146620) chr5 29233576 29233576 G A het . 2 +intergenic LINC02109(dist=169058),LINC02064(dist=38056) chr5 29342140 29342140 A C het . 2 +intergenic LINC02109(dist=204346),LINC02064(dist=2768) chr5 29377428 29377428 T A het . 3 +intergenic LINC02064(dist=13131),LOC105374704(dist=471453) chr5 29409214 29409214 G T het . 3 +intergenic LINC02064(dist=67194),LOC105374704(dist=417390) chr5 29463277 29463277 T G het . 2 +intergenic LINC02064(dist=104615),LOC105374704(dist=379969) chr5 29500698 29500698 C T het . 2 +intergenic LINC02064(dist=104622),LOC105374704(dist=379962) chr5 29500705 29500705 T G het . 2 +intergenic LINC02064(dist=104632),LOC105374704(dist=379952) chr5 29500715 29500715 C A het . 1 +intergenic LINC02064(dist=133709),LOC105374704(dist=350875) chr5 29529792 29529792 G T het . 4 +intergenic LINC02064(dist=140192),LOC105374704(dist=344392) chr5 29536275 29536275 T - het . 3 +intergenic LINC02064(dist=198500),LOC105374704(dist=286084) chr5 29594583 29594583 C A het . 2 +intergenic LINC02064(dist=269145),LOC105374704(dist=215439) chr5 29665228 29665228 G A het . 5 +intergenic LINC02064(dist=371560),LOC105374704(dist=113024) chr5 29767643 29767643 C G het . 1 +intergenic LINC02064(dist=453315),LOC105374704(dist=31269) chr5 29849398 29849398 G A het . 3 +intergenic LOC105374704(dist=16231),CDH6(dist=1295321) chr5 29898441 29898441 - TTCAC het . 2 +intergenic LOC105374704(dist=36870),CDH6(dist=1274682) chr5 29919080 29919080 T C het . 1 +intergenic LOC105374704(dist=97323),CDH6(dist=1214229) chr5 29979533 29979533 T - het . 4 +intergenic LOC105374704(dist=117530),CDH6(dist=1194022) chr5 29999740 29999740 T C het . 1 +intergenic LOC105374704(dist=202813),CDH6(dist=1108738) chr5 30085023 30085024 CC - het . 3 +intergenic LOC105374704(dist=202831),CDH6(dist=1108721) chr5 30085041 30085041 A T het . 2 +intergenic LOC105374704(dist=328480),CDH6(dist=983072) chr5 30210690 30210690 C T het . 4 +intergenic LOC105374704(dist=365537),CDH6(dist=946015) chr5 30247747 30247747 G A het . 2 +intergenic LOC105374704(dist=365539),CDH6(dist=946013) chr5 30247749 30247749 A T het . 2 +intergenic LOC105374704(dist=365554),CDH6(dist=945998) chr5 30247764 30247764 G A het . 2 +intergenic LOC105374704(dist=370620),CDH6(dist=940930) chr5 30252830 30252832 TTG - het . 1 +intergenic LOC105374704(dist=628230),CDH6(dist=683322) chr5 30510440 30510440 C G het . 2 +intergenic LOC105374704(dist=628258),CDH6(dist=683293) chr5 30510468 30510469 AG - het . 3 +intergenic LOC105374704(dist=660644),CDH6(dist=650908) chr5 30542854 30542854 C T het . 2 +intergenic LOC105374704(dist=660676),CDH6(dist=650876) chr5 30542886 30542886 G A het . 2 +intergenic LOC105374704(dist=1037656),CDH6(dist=273896) chr5 30919866 30919866 C T het . 2 +intergenic LOC105374704(dist=1088300),CDH6(dist=223252) chr5 30970510 30970510 C A het . 2 +intergenic LOC105374704(dist=1171475),CDH6(dist=140077) chr5 31053685 31053685 C T het . 13 +intergenic LOC105374704(dist=1213090),CDH6(dist=98462) chr5 31095300 31095300 G A het . 1 +intronic CDH6 chr5 31294974 31294974 G A het . 4 +intronic CDH6 chr5 31294993 31294993 G C het . 2 +intergenic CDH6(dist=46335),DROSHA(dist=25014) chr5 31375588 31375588 T G het . 3 +intergenic CDH6(dist=48773),DROSHA(dist=22576) chr5 31378026 31378026 A T het . 3 +downstream DROSHA(dist=645) chr5 31399957 31399957 A G het . 2 +downstream DROSHA(dist=636) chr5 31399966 31399966 G T het . 2 +intronic DROSHA chr5 31405911 31405911 G T het . 12 +intronic DROSHA chr5 31406939 31406939 C A het . 12 +intronic DROSHA chr5 31464299 31464299 G A het . 10 +intronic DROSHA chr5 31472087 31472087 T A het . 5 +intronic DROSHA chr5 31472117 31472117 G C het . 6 +intronic DROSHA chr5 31483754 31483754 A - het . 9 +intronic DROSHA chr5 31508933 31508933 - T het . 8 +intronic DROSHA chr5 31508945 31508945 C T het . 9 +intronic C5orf22 chr5 31541013 31541013 - T het . 27 +intronic C5orf22 chr5 31546291 31546291 T G het . 2 +intronic PDZD2 chr5 31822566 31822566 C T het . 10 +intronic PDZD2 chr5 31823156 31823156 G A het . 24 +intronic PDZD2 chr5 31823301 31823301 T C het . 3 +intronic PDZD2 chr5 31831433 31831433 C T het . 2 +intronic PDZD2 chr5 31838010 31838010 - A het . 2 +intronic PDZD2 chr5 31841143 31841143 G A het . 3 +intronic PDZD2 chr5 31901622 31901622 A T het . 2 +intronic PDZD2 chr5 31908221 31908221 A G het . 2 +intronic PDZD2 chr5 31908748 31908748 - ATCA het . 17 +intronic PDZD2 chr5 31908814 31908822 GCCCCTTGC - het . 9 +intronic PDZD2 chr5 31908824 31908825 AT - het . 9 +intronic PDZD2 chr5 31929860 31929860 A - het . 2 +intronic PDZD2 chr5 31929888 31929888 A G het . 2 +intronic PDZD2 chr5 31978212 31978212 G A het . 3 +intronic PDZD2 chr5 32011541 32011541 C A het . 2 +intronic PDZD2 chr5 32025626 32025626 T C het . 9 +intronic PDZD2 chr5 32025633 32025640 AAACAAAC - het . 8 +intronic PDZD2 chr5 32028781 32028781 G - het . 2 +intronic PDZD2 chr5 32028787 32028787 T G het . 3 +exonic PDZD2 chr5 32074272 32074272 A C het . 23 +intergenic GOLPH3(dist=48059),MTMR12(dist=4629) chr5 32222484 32222484 A C het . 22 +intronic MTMR12 chr5 32311524 32311524 C T het . 3 +intronic ZFR chr5 32444286 32444286 A G het . 8 +intergenic ZFR(dist=78036),SUB1(dist=62702) chr5 32522903 32522903 G T het . 8 +intergenic ZFR(dist=78040),SUB1(dist=62698) chr5 32522907 32522907 C T het . 9 +intergenic SUB1(dist=10803),NPR3(dist=75990) chr5 32614988 32614988 G T het . 3 +intergenic SUB1(dist=12186),NPR3(dist=74607) chr5 32616371 32616371 A G het . 1 +intergenic SUB1(dist=33913),NPR3(dist=52873) chr5 32638098 32638105 AAATAAAT - het . 3 +UTR3 NPR3(NM_001364458:c.*14_*15insTT,NM_001204376:c.*14_*15insTT,NM_001363652:c.*14_*15insTT,NM_001364460:c.*14_*15insTT,NM_001204375:c.*14_*15insTT,NM_000908:c.*14_*15insTT) chr5 32786465 32786465 - TT het . 13 +intergenic NPR3(dist=12295),LINC02120(dist=143423) chr5 32804126 32804126 A G het . 2 +intergenic NPR3(dist=143258),LINC02120(dist=12459) chr5 32935089 32935090 GT AC het . 2 +intergenic LINC02120(dist=14020),LINC02160(dist=253248) chr5 32976593 32976593 A T het . 2 +intergenic LINC02120(dist=17548),LINC02160(dist=249720) chr5 32980121 32980121 A C het . 2 +intergenic LINC02120(dist=28088),LINC02160(dist=239180) chr5 32990661 32990661 G A het . 2 +intergenic LINC02120(dist=114848),LINC02160(dist=152420) chr5 33077421 33077421 G A het . 2 +intergenic LINC02120(dist=154637),LINC02160(dist=112631) chr5 33117210 33117210 T C het . 1 +intergenic LINC02120(dist=154650),LINC02160(dist=112617) chr5 33117223 33117224 GC - het . 1 +intergenic LINC02120(dist=211524),LINC02160(dist=55744) chr5 33174097 33174097 T C het . 2 +intergenic LINC02120(dist=215058),LINC02160(dist=52210) chr5 33177631 33177631 C G het . 4 +intergenic LINC02120(dist=215065),LINC02160(dist=52200) chr5 33177638 33177641 TTGA - het . 4 +intergenic LINC02160(dist=45662),TARS(dist=139481) chr5 33301321 33301321 T G het . 2 +intergenic LINC02160(dist=148888),TARS(dist=36254) chr5 33404547 33404548 AA - het . 2 +intronic TARS chr5 33449451 33449452 TA - het . 4 +intronic TARS chr5 33453369 33453369 T C het . 9 +intergenic TARS(dist=34763),ADAMTS12(dist=20681) chr5 33502959 33502959 G T het . 4 +intronic ADAMTS12 chr5 33546114 33546115 AA - het . 6 +intronic ADAMTS12 chr5 33561029 33561029 A - het . 5 +intronic ADAMTS12 chr5 33647057 33647057 C A het . 2 +intronic ADAMTS12 chr5 33705654 33705654 A C het . 2 +exonic SLC45A2 chr5 33954511 33954511 T C het . 46 +intronic SLC45A2 chr5 33956142 33956142 A - het . 2 +intronic SLC45A2 chr5 33963569 33963570 AC - het . 7 +exonic SLC45A2 chr5 33984439 33984439 G A het . 19 +ncRNA_intronic C1QTNF3-AMACR chr5 33997371 33997371 C A het . 23 +ncRNA_intronic C1QTNF3-AMACR chr5 34040921 34040921 T - het . 4 +ncRNA_intronic C1QTNF3-AMACR chr5 34040962 34040962 A C het . 3 +intergenic C1QTNF3-AMACR(dist=69088),NONE(dist=NONE) chr5 34193721 34193722 TT - het . 48 +intergenic C1QTNF3-AMACR(dist=69089),NONE(dist=NONE) chr5 34193722 34193722 T C het . 49 +intergenic C1QTNF3-AMACR(dist=129131),RAI14(dist=402669) chr5 34253764 34253764 C A het . 1 +intergenic C1QTNF3-AMACR(dist=129149),RAI14(dist=402651) chr5 34253782 34253782 T C het . 2 +intergenic C1QTNF3-AMACR(dist=129153),RAI14(dist=402647) chr5 34253786 34253786 A T het . 2 +intergenic NONE(dist=NONE),RAI14(dist=229349) chr5 34427084 34427084 A G het . 1 +intergenic NONE(dist=NONE),RAI14(dist=192314) chr5 34464119 34464119 C A het . 1 +intergenic NONE(dist=NONE),RAI14(dist=170991) chr5 34485442 34485442 T C het . 2 +intergenic NONE(dist=NONE),RAI14(dist=164156) chr5 34492277 34492277 T G het . 2 +intergenic NONE(dist=NONE),RAI14(dist=161152) chr5 34495281 34495281 - CTAG het . 3 +intergenic NONE(dist=NONE),RAI14(dist=115903) chr5 34540527 34540530 AGAG - het . 1 +intronic RAI14 chr5 34737023 34737023 G A het . 2 +intronic RAI14 chr5 34747091 34747091 A G het . 3 +intronic RAI14 chr5 34760021 34760021 G A het . 1 +intronic RAI14 chr5 34760463 34760463 G A het . 1 +intronic RAI14 chr5 34764644 34764644 C T het . 1 +intronic RAI14 chr5 34764646 34764646 C T het . 1 +intronic RAI14 chr5 34764648 34764648 C T het . 1 +intronic RAI14 chr5 34782687 34782689 CTT - het . 10 +intronic RAI14 chr5 34806698 34806698 G A het . 2 +intronic TTC23L chr5 34880750 34880750 - T het . 8 +exonic RAD1 chr5 34911699 34911699 C A het . 24 +upstream BRIX1,RAD1(dist=13) chr5 34915807 34915807 C A het . 19 +intronic BRIX1 chr5 34925313 34925314 TT - het . 11 +exonic DNAJC21 chr5 34937440 34937440 C A het . 22 +intronic DNAJC21 chr5 34945812 34945812 A G het . 7 +intronic AGXT2 chr5 35026683 35026683 A G het . 20 +intronic AGXT2 chr5 35026700 35026700 A - het . 21 +intronic AGXT2 chr5 35047845 35047845 C T het . 6 +intergenic PRLR(dist=165428),SPEF2(dist=221870) chr5 35396119 35396119 A G het . 3 +intronic SPEF2 chr5 35706536 35706536 A G het . 1 +intronic SPEF2 chr5 35713600 35713600 G A het . 1 +intronic SPEF2 chr5 35715919 35715919 T C het . 2 +intronic SPEF2 chr5 35775361 35775361 A - het . 2 +exonic SPEF2 chr5 35814566 35814566 G A het . 15 +intergenic SPEF2(dist=31880),IL7R(dist=10356) chr5 35846593 35846595 AAA - het . 2 +intronic IL7R chr5 35860637 35860637 A G het . 4 +intronic IL7R chr5 35870588 35870588 A G het . 1 +exonic IL7R chr5 35876251 35876251 A C het . 50 +intergenic IL7R(dist=9782),CAPSL(dist=14911) chr5 35889487 35889487 A - het . 2 +intronic CAPSL chr5 35909519 35909519 A G het . 2 +exonic UGT3A2 chr5 36035939 36035939 T C het . 28 +intronic UGT3A2 chr5 36037778 36037778 G A het . 5 +intronic UGT3A2 chr5 36051831 36051838 TCCATCCG - het . 9 +intergenic UGT3A2(dist=15479),LMBRD2(dist=20912) chr5 36082502 36082502 A G het . 4 +intronic LMBRD2 chr5 36114899 36114899 T G het . 3 +intronic LMBRD2 chr5 36141526 36141526 T C het . 3 +intronic LMBRD2 chr5 36147946 36147946 C A het . 19 +intronic NADK2 chr5 36201336 36201336 C T het . 12 +intronic NADK2 chr5 36212217 36212217 C T het . 2 +intronic NADK2 chr5 36235605 36235605 T A het . 2 +intronic RANBP3L chr5 36257864 36257864 A C het . 4 +intergenic RANBP3L(dist=87552),SLC1A3(dist=216894) chr5 36389563 36389563 A G het . 2 +intergenic RANBP3L(dist=234830),SLC1A3(dist=69616) chr5 36536841 36536841 T C het . 2 +intronic SLC1A3 chr5 36629530 36629533 TTTT - het . 24 +intronic SLC1A3 chr5 36671404 36671404 C A het . 19 +intronic SLC1A3 chr5 36676837 36676837 C A het . 4 +intergenic SLC1A3(dist=35123),NIPBL-DT(dist=147904) chr5 36723559 36723559 A T het . 2 +intergenic SLC1A3(dist=50304),NIPBL-DT(dist=132723) chr5 36738740 36738740 T C het . 3 +intronic NIPBL chr5 36953996 36953996 - A het . 15 +intronic NIPBL chr5 36958086 36958086 A - het . 7 +intronic NIPBL chr5 36962063 36962063 C A het . 14 +intronic NIPBL chr5 36995693 36995693 T - het . 18 +intronic NIPBL chr5 37014402 37014402 T - het . 4 +intronic NIPBL chr5 37020546 37020546 C A het . 32 +intronic NIPBL chr5 37024519 37024519 A T het . 5 +intronic NIPBL chr5 37027577 37027578 TT - het . 14 +intronic NIPBL chr5 37036386 37036386 A G het . 5 +intronic NIPBL chr5 37036450 37036451 TA - het . 11 +intronic NIPBL chr5 37044327 37044327 T - het . 14 +intronic NIPBL chr5 37045453 37045453 - A het . 21 +intronic NIPBL chr5 37051862 37051862 T - het . 27 +intergenic NIPBL(dist=19664),CPLANE1(dist=20745) chr5 37085585 37085585 C T het . 18 +intergenic NIPBL(dist=20101),CPLANE1(dist=20308) chr5 37086022 37086022 A - het . 4 +intronic CPLANE1 chr5 37138697 37138697 A - het . 9 +intronic CPLANE1 chr5 37158463 37158463 G A het . 15 +exonic CPLANE1 chr5 37169501 37169501 C A het . 31 +exonic CPLANE1 chr5 37173920 37173920 C A het . 34 +intronic CPLANE1 chr5 37180351 37180351 - T het . 17 +intronic CPLANE1 chr5 37196280 37196280 - A het . 2 +intronic NUP155 chr5 37294700 37294700 T G het . 6 +intronic NUP155 chr5 37307300 37307301 AA - het . 10 +intronic NUP155 chr5 37307316 37307316 C A het . 11 +intronic NUP155 chr5 37307318 37307318 T A het . 11 +intronic NUP155 chr5 37318071 37318071 A T het . 27 +intronic NUP155 chr5 37326074 37326074 A - het . 28 +intronic NUP155 chr5 37349161 37349161 T - het . 5 +intronic NUP155 chr5 37349361 37349361 A - het . 20 +intronic NUP155 chr5 37367638 37367638 T - het . 4 +exonic NUP155 chr5 37371059 37371059 G A het . 39 +intronic WDR70 chr5 37467328 37467328 - A het . 2 +intronic WDR70 chr5 37489069 37489069 A G het . 2 +intronic WDR70 chr5 37505646 37505646 G T het . 4 +intronic WDR70 chr5 37509600 37509600 C T het . 2 +intronic WDR70 chr5 37510410 37510410 G A het . 2 +intronic WDR70 chr5 37510615 37510615 G C het . 6 +intronic WDR70 chr5 37516814 37516814 C T het . 12 +intronic WDR70 chr5 37516827 37516827 - TT het . 5 +intronic WDR70 chr5 37528731 37528731 A - het . 2 +intronic WDR70 chr5 37551830 37551830 A - het . 2 +intronic WDR70 chr5 37605048 37605048 A G het . 4 +intronic WDR70 chr5 37653427 37653427 T C het . 2 +intronic WDR70 chr5 37750078 37750078 T C het . 1 +intronic WDR70 chr5 37752415 37752415 A G het . 10 +UTR3 WDR70(NM_018034:c.*56_*57insT,NM_001345998:c.*56_*57insT,NM_001345999:c.*56_*57insT) chr5 37752731 37752731 - T het . 9 +intergenic WDR70(dist=23087),GDNF(dist=36918) chr5 37775861 37775861 A G het . 1 +intronic GDNF chr5 37827225 37827225 C G het . 2 +intergenic GDNF-AS1(dist=21007),LINC02110(dist=51686) chr5 37896907 37896907 C T het . 3 +intergenic LINC02110(dist=16342),LINC02107(dist=58301) chr5 37967498 37967498 G T het . 1 +ncRNA_intronic LINC02107,LINC02119 chr5 38149773 38149773 G A het . 2 +intergenic LINC02107(dist=46050),EGFLAM(dist=28427) chr5 38230084 38230084 G C het . 1 +exonic EGFLAM chr5 38407051 38407051 C T het . 26 +intronic LIFR chr5 38499747 38499747 C A het . 15 +intronic LIFR chr5 38527589 38527589 C A het . 15 +intronic LIFR chr5 38528952 38528953 AC - het . 6 +intronic LIFR chr5 38530486 38530486 A - het . 14 +intronic RICTOR chr5 38947267 38947267 C A het . 3 +exonic RICTOR chr5 38953634 38953634 G A het . 18 +intronic RICTOR chr5 38953665 38953665 - A het . 11 +intronic RICTOR chr5 38954994 38954994 T C het . 2 +intergenic RICTOR(dist=16186),FYB1(dist=14658) chr5 39090696 39090696 C G het . 2 +intronic FYB1 chr5 39119561 39119561 T C het . 13 +intronic FYB1 chr5 39190894 39190897 GAGA - het . 1 +intronic FYB1 chr5 39232650 39232650 T C het . 2 +intronic FYB1 chr5 39237490 39237490 A G het . 1 +intronic FYB1 chr5 39261883 39261883 G T het . 3 +intronic FYB1 chr5 39262293 39262293 C T het . 1 +intronic C9 chr5 39298467 39298467 C T het . 1 +intronic C9 chr5 39343306 39343306 G A het . 2 +intergenic LINC02104(dist=9060),LINC00603(dist=518523) chr5 39533870 39533870 C T het . 2 +intergenic LINC02104(dist=49465),LINC00603(dist=478118) chr5 39574275 39574275 T A het . 4 +intergenic LINC02104(dist=51919),LINC00603(dist=475662) chr5 39576729 39576731 AAA - het . 2 +intergenic LINC02104(dist=88557),LINC00603(dist=439026) chr5 39613367 39613367 G T het . 3 +intergenic LINC02104(dist=134999),LINC00603(dist=392584) chr5 39659809 39659809 T C het . 2 +intergenic LINC02104(dist=199962),LINC00603(dist=327621) chr5 39724772 39724772 G A het . 2 +intergenic LINC02104(dist=306142),LINC00603(dist=221441) chr5 39830952 39830952 T A het . 2 +intergenic LINC02104(dist=306994),LINC00603(dist=220589) chr5 39831804 39831804 T C het . 2 +intergenic LINC02104(dist=495711),LINC00603(dist=31872) chr5 40020521 40020521 T A het . 2 +intergenic LINC00603(dist=13510),PTGER4(dist=613096) chr5 40066936 40066936 A G het . 4 +intergenic LINC00603(dist=43541),PTGER4(dist=583065) chr5 40096967 40096967 T C het . 2 +intergenic LINC00603(dist=193415),PTGER4(dist=433191) chr5 40246841 40246841 T C het . 2 +intergenic LINC00603(dist=204666),PTGER4(dist=421940) chr5 40258092 40258092 C G het . 2 +intergenic LINC00603(dist=324890),PTGER4(dist=301716) chr5 40378316 40378316 A G het . 2 +intergenic LINC00603(dist=359164),PTGER4(dist=267442) chr5 40412590 40412590 A T het . 1 +intergenic LINC00603(dist=359181),PTGER4(dist=267425) chr5 40412607 40412607 C A het . 1 +intergenic LINC00603(dist=456229),PTGER4(dist=170377) chr5 40509655 40509655 T A het . 2 +intergenic LINC00603(dist=466049),PTGER4(dist=160557) chr5 40519475 40519475 C T het . 3 +intergenic LINC00603(dist=601791),PTGER4(dist=24815) chr5 40655217 40655217 G - het . 4 +intergenic LINC00603(dist=613164),PTGER4(dist=13439) chr5 40666590 40666593 TGTC - het . 3 +intergenic PTGER4(dist=3233),TTC33(dist=14608) chr5 40697070 40697070 - AGAG het . 2 +intronic TTC33 chr5 40747165 40747166 TT - het . 18 +intergenic PRKAA1(dist=7110),LOC100506548(dist=19958) chr5 40805407 40805407 G C het . 2 +intronic RPL37 chr5 40835088 40835088 C G het . 4 +intronic C7 chr5 40945227 40945227 C A het . 17 +intronic C7 chr5 40950345 40950348 TCTG - het . 1 +intronic C7 chr5 40957875 40957875 - G het . 2 +intronic C7 chr5 40962547 40962547 G A het . 2 +intronic C7 chr5 40964682 40964682 C T het . 5 +intronic C7 chr5 40964684 40964684 A G het . 5 +intronic C7 chr5 40980089 40980089 T A het . 1 +intronic C7 chr5 40980102 40980102 C T het . 2 +intronic C7 chr5 40981375 40981375 G A het . 8 +intronic C7 chr5 40981398 40981398 C T het . 10 +intronic MROH2B chr5 41045731 41045731 T - het . 7 +intronic MROH2B chr5 41045768 41045768 G A het . 11 +intronic MROH2B chr5 41056998 41056998 A G het . 4 +exonic MROH2B chr5 41061769 41061769 G A het . 15 +intronic C6 chr5 41158572 41158572 A C het . 9 +exonic C6 chr5 41161907 41161907 C A het . 40 +upstream C6(dist=794) chr5 41262334 41262334 A G het . 2 +intronic OXCT1 chr5 41862598 41862598 T A het . 10 +intronic FBXO4 chr5 41933971 41933971 C A het . 23 +exonic FBXO4 chr5 41939680 41939680 C A het . 30 +intergenic FBXO4(dist=40879),LOC101926960(dist=173384) chr5 41982551 41982551 C T het . 2 +intergenic FBXO4(dist=122411),LOC101926960(dist=91852) chr5 42064083 42064083 G T het . 2 +intergenic FBXO4(dist=122493),LOC101926960(dist=91770) chr5 42064165 42064165 A C het . 2 +intergenic FBXO4(dist=161491),LOC101926960(dist=52772) chr5 42103163 42103163 C T het . 2 +intergenic FBXO4(dist=166868),LOC101926960(dist=47395) chr5 42108540 42108540 C A het . 2 +intergenic FBXO4(dist=172140),LOC101926960(dist=42123) chr5 42113812 42113812 G A het . 2 +intergenic FBXO4(dist=196254),LOC101926960(dist=18009) chr5 42137926 42137926 G A het . 2 +intergenic LOC101926960(dist=5078),GHR(dist=243352) chr5 42180525 42180525 A - het . 3 +intergenic LOC101926960(dist=34929),GHR(dist=213501) chr5 42210376 42210376 C T het . 1 +intergenic LOC101926960(dist=69834),GHR(dist=178596) chr5 42245281 42245281 C T het . 3 +intergenic LOC101926960(dist=132068),GHR(dist=116362) chr5 42307515 42307515 - T het . 2 +intergenic LOC101926960(dist=132069),GHR(dist=116361) chr5 42307516 42307516 A T het . 2 +intergenic LOC101926960(dist=168052),GHR(dist=80376) chr5 42343499 42343501 AAA - het . 2 +intergenic LOC101926960(dist=172067),GHR(dist=76363) chr5 42347514 42347514 A G het . 3 +intergenic LOC101926960(dist=173263),GHR(dist=75167) chr5 42348710 42348710 - G het . 3 +intergenic LOC101926960(dist=189166),GHR(dist=59264) chr5 42364613 42364613 G A het . 2 +intergenic LOC101926960(dist=227784),GHR(dist=20646) chr5 42403231 42403231 A - het . 4 +intergenic LOC101926960(dist=245457),GHR(dist=2973) chr5 42420904 42420904 A - het . 3 +UTR5 GHR(NM_000163:c.-142072A>G) chr5 42423905 42423905 A G het . 2 +intronic GHR chr5 42460702 42460702 C T het . 2 +intronic GHR chr5 42467288 42467288 G T het . 46 +intronic GHR chr5 42467586 42467586 G T het . 40 +intronic GHR chr5 42482662 42482662 C T het . 3 +intronic GHR chr5 42499568 42499568 T C het . 2 +intronic GHR chr5 42514179 42514179 T C het . 2 +intronic GHR chr5 42531369 42531369 - A het . 3 +intronic GHR chr5 42673230 42673230 G A het . 2 +intronic GHR chr5 42694923 42694923 C A het . 33 +intronic GHR chr5 42695315 42695315 C A het . 20 +intronic GHR chr5 42701986 42701986 C A het . 4 +intronic GHR chr5 42712153 42712153 G A het . 3 +intronic GHR chr5 42718422 42718422 T C het . 45 +intronic GHR chr5 42718427 42718427 - TT het . 39 +intergenic GHR(dist=23649),CCDC152(dist=11291) chr5 42745629 42745629 C T het . 3 +intergenic GHR(dist=33118),CCDC152(dist=1822) chr5 42755098 42755098 T G het . 1 +intronic CCDC152 chr5 42763512 42763512 G T het . 1 +intronic CCDC152 chr5 42769632 42769632 C A het . 33 +intronic CCDC152 chr5 42769647 42769647 T C het . 35 +intronic CCDC152 chr5 42779686 42779686 - A het . 23 +intronic CCDC152 chr5 42781234 42781234 G A het . 2 +intronic CCDC152 chr5 42787080 42787080 T G het . 3 +intergenic SELENOP(dist=60744),FLJ32255(dist=112579) chr5 42872922 42872922 G A het . 2 +intergenic SELENOP(dist=92308),FLJ32255(dist=81015) chr5 42904486 42904486 A - het . 4 +intergenic SELENOP(dist=140800),FLJ32255(dist=32523) chr5 42952978 42952978 T - het . 7 +ncRNA_intronic LOC648987 chr5 43053497 43053497 A T het . 2 +ncRNA_intronic LOC100506639 chr5 43073433 43073433 G T het . 3 +ncRNA_intronic LOC100506639 chr5 43074435 43074449 CTGGGAAGATGGTGG - het . 3 +ncRNA_intronic LOC100506639 chr5 43078218 43078218 T G het . 3 +ncRNA_intronic LOC100506639 chr5 43079020 43079020 A - het . 2 +ncRNA_intronic LOC100506639 chr5 43091255 43091255 G A het . 1 +intergenic LOC100506639(dist=1069),ZNF131(dist=26214) chr5 43094729 43094731 AAC - het . 2 +intergenic LOC100506639(dist=5923),ZNF131(dist=21362) chr5 43099583 43099583 G T het . 2 +intergenic LOC100506639(dist=24725),ZNF131(dist=2560) chr5 43118385 43118385 - A het . 3 +intergenic LOC100506639(dist=26268),ZNF131(dist=1017) chr5 43119928 43119928 T C het . 6 +intronic ZNF131 chr5 43132608 43132612 TTTTT - het . 1 +intronic ZNF131 chr5 43152799 43152799 T C het . 2 +exonic ZNF131 chr5 43161551 43161551 C A het . 40 +intronic ZNF131 chr5 43165943 43165943 G A het . 2 +intronic ZNF131 chr5 43166783 43166783 G A het . 1 +intronic ZNF131 chr5 43171296 43171296 C T het . 1 +intergenic ZNF131(dist=6734),NIM1K(dist=9010) chr5 43183160 43183160 T - het . 3 +intergenic ZNF131(dist=13264),NIM1K(dist=2480) chr5 43189690 43189690 G A het . 2 +intronic NIM1K chr5 43198441 43198444 TCTT - het . 5 +intronic NIM1K chr5 43198652 43198652 A G het . 2 +intronic NIM1K chr5 43201511 43201511 A - het . 3 +intronic NIM1K chr5 43204712 43204712 A C het . 4 +intronic NIM1K chr5 43214927 43214927 - C het . 2 +intronic NIM1K chr5 43242025 43242025 C A het . 4 +intronic NIM1K chr5 43251312 43251312 G A het . 1 +intronic NIM1K chr5 43256445 43256445 C T het . 2 +intronic NIM1K chr5 43256455 43256455 T C het . 2 +intronic NIM1K chr5 43267952 43267952 A T het . 4 +intronic NIM1K chr5 43267971 43267971 T G het . 4 +intronic HMGCS1 chr5 43292483 43292483 - TTACTATGAA het . 12 +intronic HMGCS1 chr5 43303542 43303542 G C het . 3 +intergenic HMGCS1(dist=24129),CCL28(dist=39005) chr5 43337743 43337743 G C het . 2 +intergenic HMGCS1(dist=25858),CCL28(dist=37276) chr5 43339472 43339472 A G het . 3 +intergenic HMGCS1(dist=26170),CCL28(dist=36964) chr5 43339784 43339784 C T het . 3 +intergenic HMGCS1(dist=46313),CCL28(dist=16821) chr5 43359927 43359927 A C het . 4 +UTR3 CCL28(NM_001301875:c.*382C>T,NM_148672:c.*382C>T) chr5 43381580 43381580 G A het . 3 +UTR3 CCL28(NM_001301875:c.*373C>G,NM_148672:c.*373C>G) chr5 43381589 43381589 G C het . 1 +intergenic CCL28(dist=22152),TMEM267(dist=9709) chr5 43434645 43434645 T C het . 2 +intronic TMEM267 chr5 43456536 43456536 - T het . 3 +intronic TMEM267 chr5 43474093 43474093 T C het . 2 +intronic TMEM267 chr5 43476545 43476545 T G het . 2 +intronic TMEM267 chr5 43480111 43480111 C A het . 16 +intronic C5orf34 chr5 43492265 43492265 T C het . 33 +intronic C5orf34 chr5 43496198 43496198 G A het . 10 +intronic C5orf34 chr5 43496231 43496231 - TCAC het . 3 +intronic C5orf34 chr5 43511413 43511413 C G het . 2 +UTR3 PAIP1(NM_006451:c.*343T>G,NM_182789:c.*343T>G,NM_183323:c.*343T>G) chr5 43527135 43527135 A C het . 3 +intronic PAIP1 chr5 43531587 43531588 AA - het . 2 +intronic PAIP1 chr5 43535841 43535841 G T het . 25 +intronic PAIP1 chr5 43536240 43536240 C T het . 4 +ncRNA_intronic NNT-AS1 chr5 43582423 43582423 C T het . 3 +ncRNA_intronic NNT-AS1 chr5 43602713 43602713 T C het . 3 +intronic NNT chr5 43612984 43612984 - A het . 15 +intronic NNT chr5 43628696 43628696 T A het . 8 +intergenic NNT(dist=52233),FGF10(dist=547196) chr5 43757901 43757901 C T het . 3 +intergenic NNT(dist=126399),FGF10(dist=473027) chr5 43832067 43832070 TCTA - het . 2 +intergenic NNT(dist=177411),FGF10(dist=422018) chr5 43883079 43883079 G A het . 2 +intergenic NNT(dist=350365),FGF10(dist=249064) chr5 44056033 44056033 A G het . 1 +intergenic NNT(dist=353609),FGF10(dist=245820) chr5 44059277 44059277 G A het . 3 +intergenic NNT(dist=386274),FGF10(dist=213155) chr5 44091942 44091942 A T het . 2 +intergenic NNT(dist=408368),FGF10(dist=191061) chr5 44114036 44114036 G T het . 7 +intergenic NNT(dist=422010),FGF10(dist=177419) chr5 44127678 44127678 C T het . 7 +intergenic NNT(dist=423081),FGF10(dist=176348) chr5 44128749 44128749 T C het . 2 +intergenic NNT(dist=442988),FGF10(dist=156441) chr5 44148656 44148656 C A het . 2 +intergenic NNT(dist=442994),FGF10(dist=156435) chr5 44148662 44148662 - T het . 2 +intergenic NNT(dist=443001),FGF10(dist=156428) chr5 44148669 44148669 G A het . 2 +intergenic NNT(dist=479765),FGF10(dist=119664) chr5 44185433 44185433 G C het . 1 +intergenic NNT(dist=488323),FGF10(dist=111106) chr5 44193991 44193991 T G het . 5 +intergenic NNT(dist=488819),FGF10(dist=110610) chr5 44194487 44194487 C T het . 4 +intergenic NNT(dist=509814),FGF10(dist=89615) chr5 44215482 44215482 C T het . 2 +intergenic NNT(dist=538358),FGF10(dist=61071) chr5 44244026 44244026 G A het . 2 +intergenic NNT(dist=538368),FGF10(dist=61061) chr5 44244036 44244036 G A het . 2 +intergenic NNT(dist=559410),FGF10(dist=40019) chr5 44265078 44265078 C A het . 2 +intergenic NNT(dist=576135),FGF10(dist=23294) chr5 44281803 44281803 T G het . 3 +intronic FGF10 chr5 44350684 44350684 T C het . 1 +intronic FGF10 chr5 44365633 44365633 C T het . 2 +intronic FGF10 chr5 44376620 44376620 C A het . 3 +intronic FGF10 chr5 44382061 44382061 C A het . 2 +exonic FGF10 chr5 44388695 44388695 C A het . 52 +ncRNA_intronic FGF10-AS1 chr5 44397067 44397067 T A het . 2 +intergenic FGF10-AS1(dist=14425),LINC02224(dist=66730) chr5 44428516 44428516 A G het . 3 +ncRNA_intronic LINC02224 chr5 44498571 44498571 A - het . 2 +ncRNA_intronic LINC02224 chr5 44506012 44506012 G T het . 4 +intergenic LINC02224(dist=35392),MRPS30-DT(dist=198654) chr5 44545776 44545776 C T het . 1 +intergenic LINC02224(dist=112271),MRPS30-DT(dist=121775) chr5 44622655 44622655 G A het . 3 +intergenic LINC02224(dist=166244),MRPS30-DT(dist=67802) chr5 44676628 44676628 T G het . 3 +intergenic LINC02224(dist=166257),MRPS30-DT(dist=67789) chr5 44676641 44676641 G A het . 3 +intergenic LINC02224(dist=178538),MRPS30-DT(dist=55508) chr5 44688922 44688922 A G het . 3 +intergenic LINC02224(dist=178542),MRPS30-DT(dist=55504) chr5 44688926 44688926 G A het . 3 +exonic MRPS30 chr5 44813341 44813341 T C het . 29 +intergenic MRPS30(dist=18615),HCN1(dist=420819) chr5 44834233 44834233 G A het . 3 +intergenic MRPS30(dist=21636),HCN1(dist=417798) chr5 44837254 44837254 - A het . 2 +intergenic MRPS30(dist=27876),HCN1(dist=411558) chr5 44843494 44843494 C T het . 1 +intergenic MRPS30(dist=42642),HCN1(dist=396792) chr5 44858260 44858260 T G het . 3 +intergenic MRPS30(dist=47266),HCN1(dist=392168) chr5 44862884 44862884 G T het . 6 +intergenic MRPS30(dist=116887),HCN1(dist=322547) chr5 44932505 44932505 C G het . 6 +intronic HCN1 chr5 45267520 45267520 C A het . 4 +intronic HCN1 chr5 45396489 45396489 T - het . 19 +intronic HCN1 chr5 45427173 45427173 C T het . 1 +intronic HCN1 chr5 45482074 45482074 A - het . 3 +exonic HCN1 chr5 45695973 45695975 CGC - het . 19 +intergenic HCN1(dist=36927),NONE(dist=NONE) chr5 45733147 45733147 T - het . 4 +intergenic HCN1(dist=46749),NONE(dist=NONE) chr5 45742969 45742969 T C het . 2 +intergenic HCN1(dist=194932),NONE(dist=NONE) chr5 45891152 45891152 C T het . 2 +intergenic HCN1(dist=315982),NONE(dist=NONE) chr5 46012202 46012202 A T het . 2 +intergenic HCN1(dist=375322),NONE(dist=NONE) chr5 46071542 46071542 A G het . 2 +intergenic HCN1(dist=412316),NONE(dist=NONE) chr5 46108536 46108536 C G het . 2 +intergenic HCN1(dist=414491),NONE(dist=NONE) chr5 46110711 46110711 T C het . 3 +intergenic HCN1(dist=466341),NONE(dist=NONE) chr5 46162561 46162561 G A het . 1 +intergenic HCN1(dist=543816),NONE(dist=NONE) chr5 46240036 46240036 A C het . 2 +intergenic HCN1(dist=676286),NONE(dist=NONE) chr5 46372506 46372506 G C het . 3 +intergenic NONE(dist=NONE),EMB(dist=250223) chr5 49441808 49441808 A G het . 2 +intergenic NONE(dist=NONE),EMB(dist=250215) chr5 49441816 49441816 T G het . 2 +intergenic NONE(dist=NONE),EMB(dist=240302) chr5 49451729 49451729 A - het . 3 +intergenic NONE(dist=NONE),EMB(dist=240300) chr5 49451731 49451731 A T het . 3 +intergenic NONE(dist=NONE),EMB(dist=240286) chr5 49451745 49451745 T C het . 3 +intergenic NONE(dist=NONE),EMB(dist=232833) chr5 49459198 49459198 C T het . 2 +intergenic NONE(dist=NONE),EMB(dist=198227) chr5 49493804 49493804 T C het . 2 +intergenic NONE(dist=NONE),EMB(dist=145188) chr5 49546843 49546843 C A het . 1 +intergenic NONE(dist=NONE),EMB(dist=145176) chr5 49546855 49546855 A T het . 1 +intergenic NONE(dist=NONE),EMB(dist=145171) chr5 49546860 49546860 T C het . 1 +intergenic NONE(dist=NONE),EMB(dist=140217) chr5 49551814 49551814 G A het . 2 +intergenic NONE(dist=NONE),EMB(dist=94347) chr5 49597684 49597684 - AGAG het . 2 +intergenic NONE(dist=NONE),EMB(dist=73217) chr5 49618814 49618814 A C het . 6 +intronic EMB chr5 49697958 49697958 C T het . 6 +intergenic EMB(dist=49363),PARP8(dist=175136) chr5 49786597 49786597 A G het . 1 +intergenic EMB(dist=192112),PARP8(dist=32387) chr5 49929346 49929346 G A het . 28 +intergenic EMB(dist=192116),PARP8(dist=32383) chr5 49929350 49929350 A G het . 29 +intronic PARP8 chr5 49963235 49963235 C T het . 17 +intronic PARP8 chr5 49963245 49963245 G A het . 19 +intronic PARP8 chr5 50045967 50045967 G T het . 18 +intronic PARP8 chr5 50052800 50052800 T C het . 2 +intronic PARP8 chr5 50122646 50122647 TT - het . 15 +intronic PARP8 chr5 50129396 50129396 C T het . 15 +intergenic PARP8(dist=49618),LINC02106(dist=73077) chr5 50191974 50191974 G A het . 1 +intergenic LINC02106(dist=38064),LOC642366(dist=364486) chr5 50304085 50304085 G T het . 1 +intergenic LINC02106(dist=38774),LOC642366(dist=363776) chr5 50304795 50304795 G A het . 1 +intergenic LINC02106(dist=41269),LOC642366(dist=361281) chr5 50307290 50307290 G A het . 5 +intergenic LINC02106(dist=52029),LOC642366(dist=350521) chr5 50318050 50318050 G T het . 2 +intergenic LINC02106(dist=160018),LOC642366(dist=242531) chr5 50426039 50426040 TT AA het . 2 +intergenic ISL1(dist=304470),LINC02118(dist=308832) chr5 50995033 50995033 A G het . 1 +intergenic ISL1(dist=329201),LINC02118(dist=284101) chr5 51019764 51019764 A C het . 2 +intergenic ISL1(dist=448614),LINC02118(dist=164688) chr5 51139177 51139177 T C het . 4 +intergenic ISL1(dist=476628),LINC02118(dist=136674) chr5 51167191 51167191 T C het . 3 +intergenic ISL1(dist=537240),LINC02118(dist=76062) chr5 51227803 51227803 A G het . 19 +ncRNA_intronic LINC02118 chr5 51327343 51327343 A G het . 2 +intergenic LINC02118(dist=227928),PELO(dist=516103) chr5 51567671 51567671 A G het . 1 +intergenic LINC02118(dist=433659),PELO(dist=310372) chr5 51773402 51773402 G A het . 2 +intergenic LINC02118(dist=479686),PELO(dist=264345) chr5 51819429 51819429 G T het . 2 +intergenic LINC02118(dist=583275),PELO(dist=160756) chr5 51923018 51923018 G A het . 2 +intergenic LINC02118(dist=711100),PELO(dist=32928) chr5 52050843 52050846 GATA - het . 2 +intergenic LINC02118(dist=724525),PELO(dist=19506) chr5 52064268 52064268 - TCTTTAGTC het . 2 +intergenic ITGA1(dist=33554),ITGA2(dist=2117) chr5 52283039 52283039 C A het . 2 +upstream ITGA2(dist=981) chr5 52284175 52284175 C G het . 1 +intronic ITGA2 chr5 52362765 52362765 A T het . 3 +intronic ITGA2 chr5 52366138 52366138 G A het . 23 +intronic ITGA2 chr5 52370823 52370823 T - het . 19 +exonic ITGA2 chr5 52379225 52379225 T C het . 44 +UTR3 ITGA2(NM_002203:c.*60G>A) chr5 52386489 52386489 G A het . 21 +UTR3 ITGA2(NM_002203:c.*894C>T) chr5 52387323 52387323 C T het . 2 +intergenic LOC257396(dist=198763),FST(dist=166545) chr5 52609719 52609719 T C het . 1 +intergenic LOC257396(dist=280236),FST(dist=85072) chr5 52691192 52691192 A C het . 1 +intergenic LOC257396(dist=287562),FST(dist=77746) chr5 52698518 52698518 T C het . 1 +intergenic FST(dist=24719),NDUFS4(dist=49437) chr5 52807023 52807026 TTTT - het . 2 +intergenic FST(dist=38967),NDUFS4(dist=35192) chr5 52821271 52821271 T A het . 1 +intergenic FST(dist=54062),NDUFS4(dist=20097) chr5 52836366 52836366 A G het . 3 +intergenic FST(dist=69627),NDUFS4(dist=4532) chr5 52851931 52851931 C T het . 2 +intronic NDUFS4 chr5 52880599 52880599 - TGTTTT het . 2 +intronic NDUFS4 chr5 52882327 52882330 TTAG - het . 3 +intronic NDUFS4 chr5 52899167 52899167 T - het . 9 +intronic NDUFS4 chr5 52899231 52899231 C A het . 20 +intronic NDUFS4 chr5 52921571 52921571 A C het . 5 +intergenic LINC02105(dist=39599),ARL15(dist=25503) chr5 53155111 53155111 G A het . 42 +intronic ARL15 chr5 53316513 53316513 G A het . 1 +intronic ARL15 chr5 53316526 53316526 G A het . 2 +intronic ARL15 chr5 53363752 53363752 G A het . 2 +intronic ARL15 chr5 53372342 53372342 C A het . 3 +intronic ARL15 chr5 53372366 53372366 A G het . 2 +intronic ARL15 chr5 53575045 53575045 T - het . 2 +intronic ARL15 chr5 53575073 53575073 C T het . 2 +intergenic HSPB3(dist=32426),SNX18(dist=28949) chr5 53784640 53784640 A G het . 2 +intergenic SNX18(dist=3661),LOC102467080(dist=109910) chr5 53846077 53846077 G A het . 2 +intergenic SNX18(dist=3667),LOC102467080(dist=109904) chr5 53846083 53846083 A G het . 2 +intergenic SNX18(dist=9258),LOC102467080(dist=104313) chr5 53851674 53851674 A T het . 3 +intergenic SNX18(dist=105647),LOC102467080(dist=7924) chr5 53948063 53948063 C T het . 3 +intergenic LOC102467080(dist=36468),ESM1(dist=197141) chr5 54076554 54076554 T G het . 2 +intergenic LOC102467080(dist=137425),ESM1(dist=96184) chr5 54177511 54177511 G T het . 2 +intergenic LOC102467080(dist=161953),ESM1(dist=71656) chr5 54202039 54202039 G A het . 2 +intergenic LOC102467080(dist=188358),ESM1(dist=45251) chr5 54228444 54228444 C A het . 2 +intergenic LOC102467080(dist=190971),ESM1(dist=42633) chr5 54231057 54231062 TGCTGC - het . 2 +intergenic ESM1(dist=25536),LOC102467081(dist=10177) chr5 54306950 54306950 C A het . 2 +upstream GZMA(dist=425) chr5 54398049 54398049 G A het . 1 +downstream GZMA(dist=38) chr5 54406118 54406118 A G het . 4 +exonic CDC20B chr5 54420734 54420734 G A het . 21 +exonic GPX8 chr5 54457031 54457031 C A het . 31 +intronic CDC20B chr5 54468275 54468275 T - het . 10 +intergenic CDC20B(dist=23697),MCIDAS(dist=22723) chr5 54492702 54492702 A G het . 2 +intergenic CDC20B(dist=41223),MCIDAS(dist=5197) chr5 54510228 54510228 C G het . 1 +intergenic CDC20B(dist=41781),MCIDAS(dist=4638) chr5 54510786 54510787 TA - het . 1 +splicing MCIDAS(NM_001190787:exon1:c.120+2T>G) chr5 54522845 54522845 A C het . 13 +intergenic CCNO(dist=1927),DHX29(dist=20411) chr5 54531472 54531472 - C het . 2 +intergenic CCNO(dist=1932),DHX29(dist=20406) chr5 54531477 54531477 - A het . 2 +intronic MTREX chr5 54694059 54694059 A C het . 2 +intronic MTREX chr5 54695879 54695879 A G het . 4 +intronic PLPP1 chr5 54727438 54727438 C A het . 2 +intronic PLPP1 chr5 54771380 54771380 A G het . 5 +intronic PLPP1 chr5 54786713 54786713 C G het . 5 +intergenic PLPP1(dist=6993),SLC38A9(dist=83774) chr5 54837899 54837899 A G het . 2 +intergenic PLPP1(dist=7511),SLC38A9(dist=83256) chr5 54838417 54838417 A T het . 2 +intergenic PLPP1(dist=16931),SLC38A9(dist=73836) chr5 54847837 54847837 G A het . 3 +intronic SLC38A9 chr5 54929456 54929456 C A het . 10 +intronic SLC38A9 chr5 55001539 55001539 T - het . 3 +intergenic SLC38A9(dist=23643),DDX4(dist=2039) chr5 55031806 55031806 G A het . 2 +intronic DDX4 chr5 55034756 55034756 - T het . 20 +intronic DDX4 chr5 55054678 55054678 G A het . 3 +intronic DDX4 chr5 55077599 55077599 - A het . 7 +intronic DDX4 chr5 55083554 55083554 C G het . 3 +exonic DDX4 chr5 55083744 55083744 T C het . 25 +intronic IL31RA chr5 55168328 55168328 - CTT het . 15 +intronic IL31RA chr5 55179052 55179052 A T het . 28 +exonic IL31RA chr5 55206447 55206447 C A het . 31 +intronic IL31RA chr5 55214854 55214854 T C het . 2 +intronic IL6ST chr5 55237673 55237673 G A het . 17 +ncRNA_exonic FLJ31104 chr5 55291298 55291299 TC AA het . 7 +intergenic FLJ31104(dist=76669),ANKRD55(dist=19360) chr5 55376144 55376147 AAAA - het . 3 +intronic ANKRD55 chr5 55428436 55428436 G A het . 3 +intronic ANKRD55 chr5 55428439 55428439 T A het . 3 +intronic ANKRD55 chr5 55433139 55433139 G - het . 23 +intronic ANKRD55 chr5 55433764 55433764 C T het . 2 +intergenic ANKRD55(dist=33461),LINC01948(dist=190975) chr5 55562647 55562647 T G het . 2 +intergenic ANKRD55(dist=33464),LINC01948(dist=190972) chr5 55562650 55562650 T - het . 2 +intergenic ANKRD55(dist=48403),LINC01948(dist=176033) chr5 55577589 55577589 C T het . 2 +intergenic ANKRD55(dist=163753),LINC01948(dist=60683) chr5 55692939 55692939 T C het . 2 +downstream LINC01948(dist=785) chr5 55752833 55752837 TTTTG - het . 5 +ncRNA_intronic LINC01948 chr5 55759715 55759715 T C het . 15 +ncRNA_intronic LINC01948 chr5 55760678 55760678 G T het . 12 +intergenic C5orf67(dist=4807),MAP3K1(dist=204034) chr5 55906866 55906866 C A het . 2 +intergenic C5orf67(dist=146778),MAP3K1(dist=62063) chr5 56048837 56048837 C T het . 3 +intergenic C5orf67(dist=146802),MAP3K1(dist=62039) chr5 56048861 56048861 C A het . 2 +exonic MAP3K1 chr5 56168712 56168712 C T het . 40 +intronic MIER3 chr5 56224796 56224796 T A het . 15 +intergenic MIER3(dist=172477),GPBP1(dist=49341) chr5 56420434 56420434 - T het . 2 +intergenic MIER3(dist=172923),GPBP1(dist=48895) chr5 56420880 56420880 T C het . 3 +intergenic MIER3(dist=181861),GPBP1(dist=39957) chr5 56429818 56429818 T - het . 2 +intergenic MIER3(dist=181882),GPBP1(dist=39933) chr5 56429839 56429842 TATT - het . 3 +intronic GPBP1 chr5 56478516 56478516 T C het . 2 +intronic GPBP1 chr5 56491834 56491834 T A het . 2 +intronic GPBP1 chr5 56546750 56546750 T - het . 10 +intergenic GPBP1(dist=135244),ACTBL2(dist=80093) chr5 56695750 56695750 T - het . 3 +intergenic GPBP1(dist=147470),ACTBL2(dist=67867) chr5 56707976 56707976 C T het . 1 +intergenic GPBP1(dist=163387),ACTBL2(dist=51950) chr5 56723893 56723893 G C het . 1 +intergenic GPBP1(dist=197779),ACTBL2(dist=17558) chr5 56758285 56758285 T G het . 1 +intergenic ACTBL2(dist=25695),LINCR-0003(dist=61838) chr5 56804331 56804331 C A het . 1 +ncRNA_intronic LINCR-0003 chr5 56895861 56895861 T - het . 3 +intergenic LOC101928505(dist=29744),LINC02225(dist=189598) chr5 56996560 56996560 G C het . 2 +intergenic LOC101928505(dist=91144),LINC02225(dist=128198) chr5 57057960 57057960 T G het . 2 +intergenic LOC101928505(dist=91153),LINC02225(dist=128189) chr5 57057969 57057969 G C het . 2 +intergenic LOC101928505(dist=207640),LINC02225(dist=11702) chr5 57174456 57174456 A G het . 2 +ncRNA_intronic LINC02225 chr5 57190870 57190880 AGAGAAGAAAG - het . 2 +intergenic LINC02225(dist=99733),LINC02101(dist=108737) chr5 57294722 57294722 G A het . 1 +intergenic LINC02225(dist=100060),LINC02101(dist=108410) chr5 57295049 57295049 T C het . 2 +intergenic LINC02101(dist=22247),PLK2(dist=309395) chr5 57440415 57440415 C T het . 1 +intergenic LINC02101(dist=47933),PLK2(dist=283709) chr5 57466101 57466101 G C het . 1 +intergenic LINC02101(dist=127089),PLK2(dist=204553) chr5 57545257 57545257 - C het . 2 +intergenic LINC02101(dist=182876),PLK2(dist=148766) chr5 57601044 57601044 A - het . 2 +intergenic LINC02101(dist=268265),PLK2(dist=63377) chr5 57686433 57686433 T C het . 1 +intergenic LINC02101(dist=285164),PLK2(dist=46478) chr5 57703332 57703332 C A het . 3 +intergenic LINC02101(dist=298540),PLK2(dist=33102) chr5 57716708 57716708 A - het . 2 +intergenic PLK2(dist=19107),GAPT(dist=12189) chr5 57775073 57775073 G C het . 2 +intergenic MIR548AE2(dist=2807),LINC02108(dist=8651) chr5 57828743 57828743 A T het . 2 +intronic RAB3C chr5 57887726 57887727 TT - het . 2 +intronic RAB3C chr5 58116209 58116209 A G het . 2 +intronic RAB3C chr5 58141507 58141507 A T het . 2 +UTR5 PDE4D(NM_001197223:c.-18_-17insTA) chr5 58295380 58295380 - TA het . 6 +intronic PDE4D chr5 58298045 58298045 C A het . 8 +intronic PDE4D chr5 58334645 58334645 A G het . 1 +intronic PDE4D chr5 58335646 58335646 G C het . 2 +intronic PDE4D chr5 58585500 58585500 A G het . 1 +intronic PDE4D chr5 58596821 58596821 G T het . 2 +intronic PDE4D chr5 58683802 58683802 A C het . 3 +intronic PDE4D chr5 58927673 58927673 - AGG het . 2 +intronic PDE4D chr5 58964546 58964561 AAAGAAGAAGAAGAAG - het . 14 +intronic PDE4D chr5 59102274 59102274 T C het . 1 +intronic PDE4D chr5 59259372 59259372 G A het . 2 +intronic PDE4D chr5 59284274 59284274 C A het . 12 +intronic PDE4D chr5 59286359 59286359 A - het . 3 +intronic PDE4D chr5 59286370 59286370 A - het . 3 +intronic PDE4D chr5 59294470 59294470 G T het . 3 +intronic PDE4D chr5 59725671 59725671 T G het . 5 +ncRNA_exonic PART1 chr5 59821816 59821816 C A het . 2 +intergenic PART1(dist=32449),DEPDC1B(dist=16806) chr5 59875933 59875933 C G het . 2 +exonic DEPDC1B chr5 59901638 59901638 C A het . 18 +intronic DEPDC1B chr5 59972063 59972063 T C het . 1 +intronic DEPDC1B chr5 59972071 59972071 C T het . 1 +intergenic DEPDC1B(dist=21586),ELOVL7(dist=30034) chr5 60017579 60017582 AAGA - het . 2 +intronic ERCC8 chr5 60226383 60226383 - AAAAAC het . 3 +intronic NDUFAF2 chr5 60367626 60367626 T C het . 1 +ncRNA_intronic SMIM15-AS1 chr5 60503254 60503254 G C het . 3 +intergenic LINC02057(dist=11363),ZSWIM6(dist=55981) chr5 60572119 60572119 G A het . 2 +intergenic LINC02057(dist=15875),ZSWIM6(dist=51469) chr5 60576631 60576631 C A het . 2 +intronic ZSWIM6 chr5 60674387 60674387 T - het . 3 +intronic ZSWIM6 chr5 60722644 60722644 T C het . 3 +exonic ZSWIM6 chr5 60768693 60768693 C A het . 17 +intronic ZSWIM6 chr5 60786880 60786880 C T het . 1 +intronic ZSWIM6 chr5 60822417 60822417 - T het . 2 +intergenic ZSWIM6(dist=60177),C5orf64(dist=31432) chr5 60902176 60902176 C T het . 2 +ncRNA_intronic LOC101928651 chr5 60969943 60969943 T C het . 3 +intergenic C5orf64(dist=2084),C5orf64-AS1(dist=24171) chr5 61004446 61004446 T C het . 2 +intergenic C5orf64-AS1(dist=334014),KIF2A(dist=236450) chr5 61365539 61365539 C T het . 2 +intergenic C5orf64-AS1(dist=334063),KIF2A(dist=236401) chr5 61365588 61365588 C T het . 3 +intergenic C5orf64-AS1(dist=406826),KIF2A(dist=163638) chr5 61438351 61438351 G T het . 3 +intronic KIF2A chr5 61620672 61620675 AAAA - het . 4 +intronic KIF2A chr5 61643084 61643084 C A het . 18 +intronic KIF2A chr5 61676902 61676902 G T het . 18 +intronic KIF2A chr5 61676911 61676911 T G het . 20 +intronic IPO11 chr5 61745738 61745738 T - het . 12 +intronic IPO11 chr5 61750432 61750432 - T het . 3 +intronic IPO11 chr5 61781127 61781127 C A het . 20 +intronic IPO11 chr5 61826663 61826663 G T het . 21 +intronic IPO11 chr5 61861886 61861886 C T het . 2 +ncRNA_exonic IPO11-LRRC70 chr5 61874620 61874620 A - het . 8 +exonic LRRC70 chr5 61876985 61876985 C A het . 25 +intergenic IPO11(dist=104570),HTR1A(dist=1226889) chr5 62028986 62028986 A T het . 3 +intergenic IPO11(dist=107241),HTR1A(dist=1224218) chr5 62031657 62031657 T - het . 2 +intergenic IPO11(dist=288105),HTR1A(dist=1043354) chr5 62212521 62212521 A G het . 1 +intergenic IPO11(dist=370244),HTR1A(dist=961215) chr5 62294660 62294660 - G het . 2 +intergenic IPO11(dist=374292),HTR1A(dist=957167) chr5 62298708 62298708 C T het . 1 +intergenic IPO11(dist=386258),HTR1A(dist=945201) chr5 62310674 62310674 G T het . 3 +intergenic IPO11(dist=451077),HTR1A(dist=880382) chr5 62375493 62375493 T C het . 2 +intergenic IPO11(dist=455457),HTR1A(dist=876002) chr5 62379873 62379873 A G het . 3 +intergenic IPO11(dist=558035),HTR1A(dist=773424) chr5 62482451 62482451 T C het . 4 +intergenic IPO11(dist=558063),HTR1A(dist=773396) chr5 62482479 62482479 A G het . 3 +intergenic IPO11(dist=574309),HTR1A(dist=757150) chr5 62498725 62498725 T C het . 1 +intergenic IPO11(dist=641015),HTR1A(dist=690444) chr5 62565431 62565431 - T het . 2 +intergenic IPO11(dist=643292),HTR1A(dist=688167) chr5 62567708 62567708 A C het . 3 +intergenic IPO11(dist=651247),HTR1A(dist=680212) chr5 62575663 62575663 - TA het . 1 +intergenic IPO11(dist=672863),HTR1A(dist=658595) chr5 62597279 62597280 TT - het . 2 +intergenic IPO11(dist=756220),HTR1A(dist=575239) chr5 62680636 62680636 A G het . 2 +intergenic IPO11(dist=788960),HTR1A(dist=542499) chr5 62713376 62713376 A T het . 2 +intergenic IPO11(dist=1010838),HTR1A(dist=320621) chr5 62935254 62935254 - GTGT het . 4 +intergenic IPO11(dist=1123819),HTR1A(dist=207640) chr5 63048235 63048235 A T het . 3 +intergenic IPO11(dist=1149832),HTR1A(dist=181627) chr5 63074248 63074248 C T het . 3 +intergenic IPO11(dist=1154519),HTR1A(dist=176940) chr5 63078935 63078935 T C het . 2 +intergenic IPO11(dist=1230759),HTR1A(dist=100700) chr5 63155175 63155175 G A het . 1 +intergenic IPO11(dist=1318546),HTR1A(dist=12913) chr5 63242962 63242962 C T het . 1 +intronic RNF180 chr5 63548381 63548381 T C het . 1 +intronic RNF180 chr5 63640189 63640189 C T het . 2 +intergenic RNF180(dist=56759),RGS7BP(dist=76319) chr5 63725455 63725455 - A het . 2 +intergenic RNF180(dist=92737),RGS7BP(dist=40341) chr5 63761433 63761433 - T het . 3 +intergenic RNF180(dist=124316),RGS7BP(dist=8762) chr5 63793012 63793012 A C het . 2 +exonic SHISAL2B chr5 64013795 64013795 T A het . 32 +exonic CWC27 chr5 64070531 64070531 C A het . 19 +UTR3 CWC27(NM_001297645:c.*40C>A) chr5 64103673 64103673 C A het . 18 +intronic CWC27 chr5 64106930 64106930 T G het . 2 +intronic CWC27 chr5 64181437 64181437 C T het . 19 +intergenic CWC27(dist=51186),ADAMTS6(dist=78787) chr5 64365776 64365776 G A het . 3 +intergenic CWC27(dist=51207),ADAMTS6(dist=78766) chr5 64365797 64365797 T G het . 1 +intergenic CWC27(dist=62700),ADAMTS6(dist=67273) chr5 64377290 64377290 A G het . 1 +intergenic CWC27(dist=80769),ADAMTS6(dist=49204) chr5 64395359 64395359 G A het . 2 +intronic ADAMTS6 chr5 64466718 64466718 A C het . 3 +intronic ADAMTS6 chr5 64488481 64488481 T - het . 2 +intronic ADAMTS6 chr5 64492383 64492383 G A het . 4 +intronic ADAMTS6 chr5 64524124 64524124 C T het . 2 +intronic ADAMTS6 chr5 64555203 64555203 - CAAA het . 3 +intronic ADAMTS6 chr5 64766998 64766998 A - het . 5 +intronic CENPK chr5 64819759 64819759 A T het . 2 +intronic CENPK chr5 64824530 64824530 C T het . 8 +intronic CENPK chr5 64825323 64825323 T - het . 2 +intronic CENPK chr5 64829258 64829258 C A het . 1 +intronic PPWD1 chr5 64869303 64869303 - A het . 2 +intronic TRAPPC13 chr5 64924802 64924802 A G het . 3 +intronic TRAPPC13 chr5 64933458 64933460 AAA - het . 11 +intronic TRAPPC13 chr5 64942853 64942853 T - het . 12 +intronic NLN chr5 65068773 65068773 - T het . 2 +intronic NLN chr5 65068780 65068780 G T het . 3 +intergenic NLN(dist=17446),ERBIN(dist=79825) chr5 65142557 65142557 G T het . 1 +intergenic NLN(dist=25601),ERBIN(dist=71667) chr5 65150712 65150715 GTCT - het . 1 +intergenic NLN(dist=42135),ERBIN(dist=55136) chr5 65167246 65167246 C T het . 22 +intronic ERBIN chr5 65238737 65238738 AA - het . 4 +intronic ERBIN chr5 65238759 65238760 TT - het . 4 +exonic ERBIN chr5 65350573 65350573 C A het . 24 +intronic ERBIN chr5 65363769 65363769 G A het . 2 +intronic ERBIN chr5 65364693 65364694 CT - het . 9 +intronic SREK1 chr5 65466812 65466812 C A het . 14 +UTR3 SREK1(NM_001323529:c.*33G>T,NM_001323527:c.*33G>T,NM_001077199:c.*33G>T,NM_001323535:c.*33G>T,NM_001323534:c.*33G>T,NM_001323533:c.*146G>T,NM_001270492:c.*33G>T,NM_139168:c.*33G>T) chr5 65474729 65474729 G T het . 5 +intergenic LINC02065(dist=264554),LINC02229(dist=33545) chr5 65769828 65769828 - T het . 2 +intronic MAST4 chr5 65919018 65919018 G A het . 3 +intronic MAST4 chr5 66282444 66282444 - TT het . 4 +exonic MAST4 chr5 66441127 66441127 C T het . 25 +exonic MAST4 chr5 66461050 66461052 CTC - het . 12 +intergenic CD180(dist=60683),LINC02242(dist=374790) chr5 66553300 66553304 TTTCT - het . 2 +intergenic CD180(dist=136380),LINC02242(dist=299097) chr5 66628997 66628997 C A het . 2 +intergenic CD180(dist=251018),LINC02242(dist=184459) chr5 66743635 66743635 - AG het . 3 +intergenic CD180(dist=293542),LINC02242(dist=141934) chr5 66786159 66786160 AG - het . 4 +intergenic CD180(dist=299852),LINC02242(dist=135616) chr5 66792469 66792478 ATAGATAGAT - het . 3 +intergenic CD180(dist=324687),LINC02242(dist=110790) chr5 66817304 66817304 G A het . 2 +intergenic LOC101928858(dist=54946),LINC02219(dist=333872) chr5 67151832 67151832 C A het . 15 +intergenic LOC101928858(dist=54970),LINC02219(dist=333848) chr5 67151856 67151856 G T het . 13 +intergenic LOC101928858(dist=60454),LINC02219(dist=328364) chr5 67157340 67157340 A G het . 2 +intergenic LOC101928858(dist=246115),LINC02219(dist=142703) chr5 67343001 67343001 A G het . 4 +intergenic LOC101928858(dist=280366),LINC02219(dist=108447) chr5 67377252 67377257 AATAAT - het . 3 +intronic PIK3R1 chr5 67542734 67542734 A - het . 2 +exonic PIK3R1 chr5 67569294 67569294 A G het . 23 +intronic PIK3R1 chr5 67569391 67569391 A C het . 7 +UTR5 PIK3R1(NM_181524:c.-51del-) chr5 67584513 67584513 T - het . 11 +intergenic PIK3R1(dist=23742),LINC02198(dist=642175) chr5 67621391 67621393 GAA - het . 3 +intergenic PIK3R1(dist=157442),LINC02198(dist=508477) chr5 67755091 67755091 A G het . 1 +intergenic PIK3R1(dist=347957),LINC02198(dist=317959) chr5 67945606 67945609 TTTT - het . 3 +intergenic PIK3R1(dist=410821),LINC02198(dist=255098) chr5 68008470 68008470 G A het . 3 +intergenic PIK3R1(dist=562578),LINC02198(dist=103341) chr5 68160227 68160227 C T het . 2 +intergenic PIK3R1(dist=574982),LINC02198(dist=90937) chr5 68172631 68172631 T - het . 3 +ncRNA_intronic LINC02198 chr5 68279711 68279711 T C het . 2 +ncRNA_intronic LINC02198 chr5 68281086 68281086 T - het . 3 +ncRNA_intronic LINC02198 chr5 68283860 68283860 G A het . 2 +ncRNA_intronic LINC02198 chr5 68286045 68286045 A G het . 2 +ncRNA_intronic LINC02198 chr5 68324483 68324483 G A het . 2 +intergenic LINC02198(dist=39829),SLC30A5(dist=24193) chr5 68365583 68365583 G A het . 3 +intergenic LINC02198(dist=55756),SLC30A5(dist=8266) chr5 68381510 68381510 C T het . 2 +intergenic LINC02198(dist=62166),SLC30A5(dist=1856) chr5 68387920 68387920 T - het . 2 +intergenic LINC02198(dist=62169),SLC30A5(dist=1853) chr5 68387923 68387923 T A het . 2 +intergenic LINC02198(dist=62188),SLC30A5(dist=1834) chr5 68387942 68387942 T G het . 1 +intronic SLC30A5 chr5 68396440 68396443 AAAA - het . 2 +intronic SLC30A5 chr5 68399604 68399604 G A het . 8 +intronic SLC30A5 chr5 68407426 68407426 T C het . 1 +intronic SLC30A5 chr5 68408912 68408912 C A het . 20 +intronic SLC30A5 chr5 68410963 68410977 AAAAAAAAAAAAAAA - het . 3 +intronic SLC30A5 chr5 68411010 68411010 C T het . 7 +intronic SLC30A5 chr5 68414152 68414152 G A het . 5 +intronic SLC30A5 chr5 68422703 68422703 A - het . 3 +upstream CCNB1(dist=12) chr5 68462825 68462825 C G het . 2 +exonic CENPH chr5 68487643 68487643 A T het . 25 +intronic CDK7 chr5 68550349 68550351 AAA - het . 3 +intronic CDK7 chr5 68557996 68557996 C A het . 14 +intronic CDK7 chr5 68558496 68558496 A - het . 2 +intronic CCDC125 chr5 68578905 68578905 C A het . 17 +intronic CCDC125 chr5 68580950 68580950 - AAACA het . 2 +intronic CCDC125 chr5 68611699 68611699 C T het . 1 +intergenic CCDC125(dist=12856),AK6(dist=6077) chr5 68641476 68641476 T G het . 2 +exonic TAF9 chr5 68660786 68660788 TCA - het . 21 +intronic RAD17 chr5 68669490 68669490 G A het . 9 +intronic RAD17 chr5 68670325 68670325 C A het . 10 +intronic RAD17 chr5 68680781 68680781 - T het . 13 +splicing RAD17(NM_133343:exon15:c.1572+2->A,NM_133342:exon15:c.1572+2->A,NM_133344:exon14:c.1572+2->A,NM_133338:exon16:c.1572+2->A,NM_001278622:exon15:c.1572+2->A,NM_002873:exon14:c.1572+2->A,NM_133341:exon13:c.1314+2->A,NM_133340:exon13:c.1077+2->A,NM_133339:exon13:c.1605+2->A) chr5 68692375 68692375 - A het . 6 +intronic RAD17 chr5 68693900 68693900 C T het . 2 +intronic RAD17 chr5 68696035 68696035 - TTTATTTA het . 8 +intronic MARVELD2 chr5 68720856 68720856 G - het . 4 +intronic MARVELD2 chr5 68720856 68720856 G A het . 4 +intronic NAIP chr5 70306678 70306678 T C het . 2 +intronic BDP1 chr5 70761699 70761699 C A het . 4 +exonic BDP1 chr5 70793220 70793220 C A het . 28 +intronic BDP1 chr5 70805278 70805278 T - het . 18 +exonic BDP1 chr5 70806053 70806053 C A het . 43 +exonic BDP1 chr5 70837295 70837295 A C het . 9 +intronic MCCC2 chr5 70888666 70888666 T - het . 15 +intronic MCCC2 chr5 70888683 70888683 A C het . 16 +intronic MCCC2 chr5 70888917 70888917 - A het . 8 +intronic MCCC2 chr5 70892028 70892034 ATTAAGT - het . 17 +exonic MCCC2 chr5 70895539 70895539 A G het . 36 +intronic MCCC2 chr5 70900410 70900410 T - het . 7 +intergenic CARTPT(dist=149935),MAP1B(dist=236285) chr5 71166810 71166810 A C het . 2 +intergenic CARTPT(dist=152827),MAP1B(dist=233393) chr5 71169702 71169702 A G het . 2 +intergenic CARTPT(dist=163598),MAP1B(dist=222622) chr5 71180473 71180473 G T het . 2 +intergenic CARTPT(dist=237398),MAP1B(dist=148822) chr5 71254273 71254273 - CTG het . 13 +intronic MAP1B chr5 71446088 71446088 T G het . 2 +exonic MAP1B chr5 71490962 71490962 A G het . 36 +exonic MAP1B chr5 71490969 71490969 C A het . 35 +intronic MAP1B chr5 71499641 71499641 C T het . 8 +UTR5 MRPS27(NM_001286748:c.-36G>T,NM_015084:c.-36G>T,NM_001286751:c.-22572G>T) chr5 71616084 71616084 C A het . 6 +intergenic LINC02056(dist=35623),TNPO1(dist=120299) chr5 71992119 71992119 T C het . 2 +intergenic LINC02056(dist=35635),TNPO1(dist=120285) chr5 71992131 71992133 TTT AGA het . 1 +intergenic LINC02056(dist=105723),TNPO1(dist=50198) chr5 72062219 72062220 TT - het . 2 +UTR5 TNPO1(NM_002270:c.-144T>C) chr5 72112421 72112421 T C het . 4 +UTR5 TNPO1(NM_002270:c.-135C>G) chr5 72112430 72112430 C G het . 3 +intronic TNPO1 chr5 72161265 72161265 A - het . 6 +intronic TNPO1 chr5 72168793 72168793 C A het . 2 +intronic FCHO2 chr5 72333533 72333533 A G het . 13 +intronic FCHO2 chr5 72347153 72347153 - T het . 33 +intronic FCHO2 chr5 72347527 72347527 T G het . 2 +intronic FCHO2 chr5 72373102 72373102 C A het . 13 +intronic FCHO2 chr5 72378704 72378704 T - het . 15 +intergenic FCHO2(dist=22745),TMEM171(dist=7294) chr5 72409094 72409094 G A het . 2 +intergenic LOC340090(dist=10486),LINC02230(dist=125459) chr5 72508274 72508274 A - het . 2 +intergenic LOC340090(dist=74981),LINC02230(dist=60964) chr5 72572769 72572769 A T het . 2 +intergenic LINC01386(dist=5198),BTF3(dist=20261) chr5 72773989 72773989 T G het . 2 +intronic BTF3 chr5 72798503 72798504 TT - het . 13 +intronic BTF3 chr5 72800092 72800092 - T het . 3 +intronic BTF3 chr5 72800864 72800864 T - het . 7 +intergenic BTF3(dist=3219),ANKRA2(dist=43358) chr5 72804667 72804667 C A het . 27 +intergenic BTF3(dist=10948),ANKRA2(dist=35629) chr5 72812396 72812396 C T het . 3 +intergenic BTF3(dist=10964),ANKRA2(dist=35613) chr5 72812412 72812412 G A het . 3 +intronic ANKRA2 chr5 72851535 72851535 A T het . 16 +intronic ANKRA2 chr5 72852900 72852900 T A het . 2 +UTR5 ANKRA2(NM_023039:c.-2753C>T) chr5 72861459 72861459 G A het . 5 +intronic UTP15 chr5 72875567 72875567 T G het . 6 +intronic ARHGEF28 chr5 72957362 72957362 T C het . 1 +intronic ARHGEF28 chr5 72985890 72985890 - TTATT het . 4 +intronic ARHGEF28 chr5 72985900 72985900 G A het . 4 +intronic ARHGEF28 chr5 73164261 73164261 C T het . 5 +intronic ARHGEF28 chr5 73165730 73165730 - A het . 3 +intronic ARHGEF28 chr5 73165740 73165740 C A het . 4 +intronic ARHGEF28 chr5 73178550 73178550 T G het . 11 +exonic ARHGEF28 chr5 73181685 73181685 G A het . 22 +intronic ARHGEF28 chr5 73190119 73190119 T A het . 7 +intergenic ARHGEF28(dist=281944),LINC01335(dist=82473) chr5 73519762 73519762 A T het . 2 +ncRNA_intronic LINC01331 chr5 73671777 73671777 T A het . 1 +exonic ENC1 chr5 73931246 73931246 T C het . 4 +exonic ENC1 chr5 73931381 73931381 C A het . 36 +UTR5 ENC1(NM_001256575:c.-5A>G,NM_001256574:c.-5A>G,NM_003633:c.-5A>G) chr5 73932315 73932315 T C het . 8 +intronic HEXB chr5 74011541 74011541 - AAAA het . 16 +UTR3 GFM2(NM_001281302:c.*399_*398delCA,NM_170691:c.*399_*398delCA,NM_032380:c.*399_*398delCA),HEXB(NM_001292004:c.*81_*82delTG,NM_000521:c.*81_*82delTG) chr5 74017081 74017082 TG - het . 39 +intronic GFM2 chr5 74054793 74054793 G - het . 10 +intergenic LOC441086(dist=111575),GCNT4(dist=48614) chr5 74274675 74274675 G A het . 1 +intergenic LOC441086(dist=122543),GCNT4(dist=37646) chr5 74285643 74285643 A - het . 2 +intronic ANKRD31 chr5 74376309 74376309 A C het . 18 +intronic ANKRD31 chr5 74376571 74376571 C T het . 3 +intronic ANKRD31 chr5 74379926 74379926 C T het . 3 +intronic ANKRD31 chr5 74379938 74379938 T A het . 3 +intronic ANKRD31 chr5 74405749 74405749 A T het . 1 +exonic ANKRD31 chr5 74442796 74442796 C A het . 32 +exonic ANKRD31 chr5 74491864 74491864 C A het . 27 +intronic ANKRD31 chr5 74518317 74518317 - A het . 9 +intronic HMGCR chr5 74642848 74642848 A T het . 2 +intronic HMGCR chr5 74655726 74655726 C T het . 9 +exonic HMGCR chr5 74655928 74655928 C A het . 33 +splicing COL4A3BP(NM_031361:exon15:c.1540-1G>T,NM_005713:exon16:c.1618-1G>T,NM_001130105:exon17:c.2002-1G>T) chr5 74677027 74677027 C A het . 19 +intronic COL4A3BP chr5 74725022 74725022 - ATT het . 2 +intronic POLK chr5 74848199 74848200 TC - het . 7 +exonic POLK chr5 74892647 74892647 C A het . 40 +intronic ANKDD1B chr5 74934213 74934213 T G het . 2 +exonic POC5 chr5 74970379 74970379 C A het . 25 +exonic POC5 chr5 74981032 74981032 C A het . 19 +ncRNA_exonic LOC441087 chr5 75026623 75026623 C T het . 2 +intergenic LOC441087(dist=28103),SV2C(dist=324341) chr5 75054898 75054898 A C het . 2 +intergenic LOC441087(dist=152886),SV2C(dist=199558) chr5 75179681 75179681 A - het . 3 +intergenic LOC441087(dist=180756),SV2C(dist=171688) chr5 75207551 75207551 A G het . 28 +intergenic LOC441087(dist=180764),SV2C(dist=171680) chr5 75207559 75207559 G C het . 29 +intergenic LOC441087(dist=230000),SV2C(dist=122444) chr5 75256795 75256795 G A het . 2 +intergenic LOC441087(dist=283298),SV2C(dist=69143) chr5 75310093 75310096 GAAA - het . 3 +intergenic LOC441087(dist=310941),SV2C(dist=41503) chr5 75337736 75337736 G A het . 1 +intronic SV2C chr5 75532392 75532394 AAT - het . 2 +intronic SV2C chr5 75558180 75558180 G A het . 2 +intronic SV2C chr5 75577216 75577216 G T het . 9 +intronic SV2C chr5 75577223 75577224 AA - het . 9 +exonic SV2C chr5 75594706 75594706 C T het . 29 +UTR3 SV2C(NM_014979:c.*5351T>C) chr5 75626723 75626723 T C het . 2 +intronic SV2C chr5 75631209 75631209 A C het . 2 +intergenic SV2C(dist=23036),IQGAP2(dist=26280) chr5 75672800 75672800 G C het . 20 +intronic IQGAP2 chr5 75757207 75757207 T A het . 2 +intronic IQGAP2 chr5 75816649 75816649 C T het . 2 +intronic IQGAP2 chr5 75923393 75923393 T C het . 2 +intronic IQGAP2 chr5 75929286 75929286 T C het . 2 +intronic IQGAP2 chr5 75996185 75996185 C T het . 3 +intronic IQGAP2 chr5 75998602 75998602 G A het . 2 +intergenic IQGAP2(dist=2457),NCRUPAR(dist=1814) chr5 76006414 76006414 T A het . 1 +intergenic IQGAP2(dist=2472),NCRUPAR(dist=1799) chr5 76006429 76006429 T C het . 2 +intergenic IQGAP2(dist=2485),NCRUPAR(dist=1786) chr5 76006442 76006442 G A het . 2 +intronic F2R chr5 76013931 76013931 G A het . 1 +intronic S100Z chr5 76184160 76184160 T - het . 3 +intronic S100Z chr5 76210596 76210596 G A het . 1 +intergenic S100Z(dist=3682),CRHBP(dist=27942) chr5 76220738 76220738 A - het . 2 +intergenic S100Z(dist=3687),CRHBP(dist=27937) chr5 76220743 76220743 A G het . 2 +intronic PDE8B chr5 76605767 76605767 T C het . 1 +intronic PDE8B chr5 76607930 76607930 C T het . 10 +intronic PDE8B chr5 76627436 76627436 A G het . 5 +intronic PDE8B chr5 76671738 76671738 G A het . 2 +intronic PDE8B chr5 76715480 76715480 C A het . 10 +exonic PDE8B chr5 76717748 76717748 C A het . 36 +intronic PDE8B chr5 76721938 76721938 G A het . 4 +intronic WDR41 chr5 76729193 76729193 G C het . 5 +intronic WDR41 chr5 76744693 76744693 - AAACAAAC het . 4 +intronic WDR41 chr5 76755173 76755173 T A het . 5 +intronic WDR41 chr5 76785114 76785114 C T het . 2 +intergenic WDR41(dist=127680),OTP(dist=8490) chr5 76916045 76916047 ACA - het . 7 +intergenic TBCA(dist=9738),LOC101929154(dist=98557) chr5 77081923 77081923 T G het . 8 +intergenic TBCA(dist=9753),LOC101929154(dist=98542) chr5 77081938 77081938 - T het . 10 +intergenic TBCA(dist=31223),LOC101929154(dist=77072) chr5 77103408 77103408 T C het . 2 +intergenic TBCA(dist=103441),LOC101929154(dist=4854) chr5 77175626 77175626 T C het . 2 +ncRNA_intronic LOC101929154 chr5 77199572 77199572 - A het . 2 +intronic AP3B1 chr5 77563270 77563271 TA - het . 22 +intergenic AP3B1(dist=36454),SCAMP1-AS1(dist=27554) chr5 77627033 77627034 TT - het . 1 +intronic SCAMP1 chr5 77699873 77699873 G A het . 3 +intronic SCAMP1 chr5 77745741 77745741 T - het . 14 +exonic SCAMP1 chr5 77745853 77745853 - A het . 22 +intronic LHFPL2 chr5 77811152 77811152 C - het . 1 +intronic LHFPL2 chr5 77862202 77862202 C A het . 2 +intronic LHFPL2 chr5 77911955 77911955 G - het . 2 +intergenic LHFPL2(dist=39717),ARSB(dist=88672) chr5 77984365 77984365 G T het . 3 +intergenic LHFPL2(dist=76570),ARSB(dist=51819) chr5 78021218 78021218 A G het . 2 +intergenic LHFPL2(dist=102043),ARSB(dist=26346) chr5 78046691 78046691 A T het . 1 +intronic ARSB chr5 78179365 78179365 T C het . 1 +intronic ARSB chr5 78217311 78217311 C T het . 2 +intronic ARSB chr5 78272982 78272982 A C het . 3 +intronic ARSB chr5 78272990 78272990 C T het . 3 +intronic ARSB chr5 78272993 78272993 G C het . 3 +intronic DMGDH chr5 78324003 78324003 G T het . 2 +intronic DMGDH chr5 78326923 78326937 GGGCAGCGGGGAGTG - het . 13 +intronic BHMT2 chr5 78378959 78378959 A - het . 11 +intergenic BHMT2(dist=5822),BHMT(dist=15885) chr5 78391719 78391719 A T het . 2 +intergenic BHMT(dist=53212),JMY(dist=50600) chr5 78481325 78481325 A - het . 3 +intronic JMY chr5 78570219 78570219 G T het . 2 +intronic JMY chr5 78579870 78579870 - CTTT het . 14 +intronic JMY chr5 78596189 78596189 G A het . 4 +exonic JMY chr5 78596648 78596648 C A het . 14 +intronic JMY chr5 78609259 78609259 C A het . 4 +intergenic JMY(dist=26352),HOMER1(dist=20257) chr5 78649390 78649390 C T het . 3 +intronic HOMER1 chr5 78779605 78779605 T C het . 2 +intergenic HOMER1(dist=16364),TENT2(dist=82209) chr5 78826023 78826031 TTTTTTTTT - het . 6 +intergenic HOMER1(dist=44542),TENT2(dist=54039) chr5 78854201 78854201 T A het . 2 +intronic TENT2 chr5 78944138 78944138 A - het . 4 +exonic CMYA5 chr5 79026049 79026049 C G het . 22 +exonic CMYA5 chr5 79029346 79029346 C A het . 34 +intergenic LINC01455(dist=6248),MTX3(dist=2842) chr5 79269697 79269697 T A het . 3 +intronic THBS4 chr5 79344289 79344289 T C het . 1 +intronic THBS4 chr5 79355151 79355152 AA - het . 4 +intronic SERINC5 chr5 79499167 79499167 T C het . 3 +intronic SERINC5 chr5 79499478 79499478 C T het . 5 +intronic SERINC5 chr5 79541428 79541428 - T het . 3 +intergenic SERINC5(dist=16288),LOC644936(dist=26728) chr5 79568189 79568189 A G het . 3 +intergenic SERINC5(dist=27817),LOC644936(dist=15199) chr5 79579718 79579718 - T het . 2 +upstream LOC644936(dist=36) chr5 79596333 79596333 G A het . 2 +intergenic LOC644936(dist=6884),SPZ1(dist=12609) chr5 79603181 79603181 G A het . 2 +intergenic LOC644936(dist=16491),SPZ1(dist=3002) chr5 79612788 79612788 T - het . 2 +intergenic LOC644936(dist=16522),SPZ1(dist=2971) chr5 79612819 79612819 T - het . 3 +intergenic LOC644936(dist=16527),SPZ1(dist=2966) chr5 79612824 79612824 T G het . 3 +intronic ZFYVE16 chr5 79735399 79735399 T - het . 3 +intronic ZFYVE16 chr5 79743821 79743821 T A het . 5 +intronic ZFYVE16 chr5 79751332 79751332 A G het . 13 +UTR3 ZFYVE16(NM_001349434:c.*5952C>T,NM_014733:c.*5952C>T,NM_001284236:c.*5952C>T,NM_001105251:c.*5952C>T) chr5 79779148 79779148 C T het . 3 +intergenic ZFYVE16(dist=2542),FAM151B(dist=2060) chr5 79781740 79781740 T A het . 1 +intergenic ZFYVE16(dist=3165),FAM151B(dist=1435) chr5 79782363 79782365 AAC - het . 2 +exonic ANKRD34B chr5 79855151 79855151 C A het . 39 +exonic ANKRD34B chr5 79855316 79855316 C A het . 37 +exonic ANKRD34B chr5 79855660 79855660 C A het . 37 +intronic DHFR chr5 79933653 79933653 - GAAA het . 15 +intronic DHFR chr5 79945444 79945444 C A het . 13 +exonic MSH3 chr5 79950700 79950717 GCAGCGGCTGCAGCGGCC - het . 16 +exonic MSH3 chr5 79950742 79950750 CCCCCAGCT - het . 13 +intronic MSH3 chr5 79950859 79950859 G T het . 6 +intronic MSH3 chr5 79959368 79959368 - AA het . 3 +intronic MSH3 chr5 79959398 79959398 C A het . 2 +intronic MSH3 chr5 79981579 79981579 G T het . 2 +intronic MSH3 chr5 79981593 79981593 C G het . 2 +intronic MSH3 chr5 80021034 80021034 A - het . 5 +intronic MSH3 chr5 80021182 80021182 T - het . 16 +intronic MSH3 chr5 80021193 80021193 C T het . 16 +intronic MSH3 chr5 80074800 80074803 TTTT - het . 5 +intronic MSH3 chr5 80109962 80109962 C A het . 2 +intronic MSH3 chr5 80166016 80166016 C A het . 4 +intronic MSH3 chr5 80166022 80166022 C A het . 4 +intergenic MSH3(dist=21719),RASGRF2-AS1(dist=49159) chr5 80194353 80194353 C G het . 2 +intronic RASGRF2 chr5 80323453 80323453 A G het . 2 +intronic RASGRF2 chr5 80338693 80338693 C A het . 12 +intronic RASGRF2 chr5 80419729 80419729 G A het . 6 +ncRNA_intronic RNU5D-1,RNU5E-1 chr5 80521333 80521334 TT - het . 6 +ncRNA_intronic RNU5D-1,RNU5E-1 chr5 80521352 80521352 C A het . 7 +ncRNA_intronic CKMT2-AS1,RNU5D-1,RNU5E-1 chr5 80538143 80538143 G A het . 10 +ncRNA_intronic CKMT2-AS1,RNU5D-1,RNU5E-1 chr5 80580978 80580978 C A het . 2 +ncRNA_intronic RNU5D-1,RNU5E-1 chr5 80618242 80618242 T C het . 2 +ncRNA_intronic RNU5D-1,RNU5E-1 chr5 80638802 80638802 A C het . 2 +ncRNA_intronic RNU5D-1,RNU5E-1 chr5 80640920 80640940 GCACACCGCTGCCACCTCCTC - het . 6 +ncRNA_intronic RNU5D-1,RNU5E-1 chr5 80657134 80657134 G T het . 2 +intronic SSBP2 chr5 80749773 80749773 A C het . 2 +intronic SSBP2 chr5 80887534 80887534 G T het . 3 +intronic SSBP2 chr5 80887552 80887552 T A het . 3 +intronic SSBP2 chr5 81046683 81046683 A C het . 4 +intronic SSBP2 chr5 81046688 81046688 A C het . 4 +intergenic SSBP2(dist=107889),ATG10(dist=112883) chr5 81154961 81154961 C T het . 1 +intergenic SSBP2(dist=147519),ATG10(dist=73253) chr5 81194591 81194591 G A het . 1 +intronic ATG10 chr5 81289112 81289120 CTTTCTTTC - het . 6 +intronic ATG10 chr5 81289159 81289159 T C het . 2 +intronic ATG10 chr5 81409913 81409913 A T het . 1 +intronic ATG10 chr5 81549119 81549119 C A het . 9 +intronic ATP6AP1L chr5 81588011 81588011 G A het . 2 +intergenic ATP6AP1L(dist=153882),MIR3977(dist=366341) chr5 81769633 81769633 G C het . 2 +intergenic ATP6AP1L(dist=249894),MIR3977(dist=270329) chr5 81865645 81865645 T A het . 3 +intergenic ATP6AP1L(dist=270920),MIR3977(dist=249303) chr5 81886671 81886671 C T het . 2 +intergenic ATP6AP1L(dist=270946),MIR3977(dist=249275) chr5 81886697 81886699 TAT - het . 2 +intergenic LINC01338(dist=129066),TMEM167A(dist=63944) chr5 82284721 82284721 A G het . 2 +intergenic LINC01338(dist=158506),TMEM167A(dist=34504) chr5 82314161 82314161 T C het . 2 +intronic XRCC4 chr5 82431289 82431289 A T het . 1 +intronic VCAN chr5 82785845 82785845 C A het . 25 +exonic VCAN chr5 82815858 82815858 A T het . 41 +exonic VCAN chr5 82833052 82833052 C A het . 25 +exonic VCAN chr5 82833119 82833119 C A het . 30 +exonic VCAN chr5 82833145 82833145 G A het . 31 +exonic VCAN chr5 82836524 82836524 C A het . 30 +intronic VCAN chr5 82875630 82875630 C A het . 16 +intergenic HAPLN1(dist=8017),EDIL3(dist=211501) chr5 83024913 83024913 - TTTAT het . 3 +intergenic HAPLN1(dist=19671),EDIL3(dist=199847) chr5 83036567 83036567 T A het . 5 +intergenic HAPLN1(dist=156697),EDIL3(dist=62821) chr5 83173593 83173593 C T het . 2 +intergenic HAPLN1(dist=185970),EDIL3(dist=33548) chr5 83202866 83202866 A G het . 1 +UTR3 EDIL3(NM_001278642:c.*89G>T,NM_005711:c.*89G>T) chr5 83239149 83239149 C A het . 2 +UTR3 EDIL3(NM_001278642:c.*85G>T,NM_005711:c.*85G>T) chr5 83239153 83239153 C A het . 2 +intronic EDIL3 chr5 83478297 83478297 C A het . 4 +intergenic EDIL3(dist=49887),NBPF22P(dist=1847690) chr5 83730572 83730572 G A het . 2 +intergenic EDIL3(dist=401580),NBPF22P(dist=1495997) chr5 84082265 84082265 C T het . 3 +intergenic EDIL3(dist=477521),NBPF22P(dist=1420056) chr5 84158206 84158206 C G het . 2 +intergenic EDIL3(dist=478449),NBPF22P(dist=1419128) chr5 84159134 84159134 T C het . 3 +intergenic EDIL3(dist=565291),NBPF22P(dist=1332286) chr5 84245976 84245976 G T het . 2 +intergenic EDIL3(dist=752234),NBPF22P(dist=1145343) chr5 84432919 84432919 G A het . 3 +intergenic EDIL3(dist=757231),NBPF22P(dist=1140346) chr5 84437916 84437916 A C het . 5 +intergenic EDIL3(dist=760604),NBPF22P(dist=1136973) chr5 84441289 84441289 C T het . 3 +intergenic EDIL3(dist=885300),NBPF22P(dist=1012277) chr5 84565985 84565985 T A het . 1 +intergenic EDIL3(dist=904107),NBPF22P(dist=993470) chr5 84584792 84584792 C T het . 2 +intergenic EDIL3(dist=948146),NBPF22P(dist=949431) chr5 84628831 84628831 - T het . 2 +intergenic EDIL3(dist=948168),NBPF22P(dist=949409) chr5 84628853 84628853 C T het . 2 +intergenic EDIL3(dist=1069823),NBPF22P(dist=827754) chr5 84750508 84750508 C A het . 1 +intergenic EDIL3(dist=1120109),NBPF22P(dist=777468) chr5 84800794 84800794 G T het . 2 +intergenic EDIL3(dist=1158072),NBPF22P(dist=739504) chr5 84838757 84838758 AA - het . 3 +intergenic EDIL3(dist=1160632),NBPF22P(dist=736945) chr5 84841317 84841317 A - het . 3 +intergenic EDIL3(dist=1272269),NBPF22P(dist=625308) chr5 84952954 84952954 G T het . 2 +intergenic EDIL3(dist=1383078),NBPF22P(dist=514499) chr5 85063763 85063763 C T het . 3 +intergenic EDIL3(dist=1417206),NBPF22P(dist=480371) chr5 85097891 85097891 A T het . 2 +intergenic EDIL3(dist=1417210),NBPF22P(dist=480367) chr5 85097895 85097895 A T het . 2 +intergenic EDIL3(dist=1422861),NBPF22P(dist=474716) chr5 85103546 85103546 C T het . 2 +intergenic EDIL3(dist=1422870),NBPF22P(dist=474707) chr5 85103555 85103555 G T het . 1 +intergenic EDIL3(dist=1435543),NBPF22P(dist=462034) chr5 85116228 85116228 T C het . 3 +intergenic EDIL3(dist=1441587),NBPF22P(dist=455990) chr5 85122272 85122272 - TA het . 3 +intergenic EDIL3(dist=1443768),NBPF22P(dist=453809) chr5 85124453 85124453 A G het . 2 +intergenic EDIL3(dist=1450958),NBPF22P(dist=446619) chr5 85131643 85131643 G A het . 3 +intergenic EDIL3(dist=1459594),NBPF22P(dist=437983) chr5 85140279 85140279 T - het . 2 +intergenic EDIL3(dist=1527100),NBPF22P(dist=370477) chr5 85207785 85207785 C T het . 2 +intergenic EDIL3(dist=1541038),NBPF22P(dist=356539) chr5 85221723 85221723 G A het . 2 +intergenic EDIL3(dist=1760823),NBPF22P(dist=136754) chr5 85441508 85441508 C T het . 2 +intergenic NBPF22P(dist=103454),COX7C(dist=216965) chr5 85696819 85696819 - A het . 3 +intergenic COX7C(dist=72145),LINC02059(dist=53907) chr5 85988728 85988728 T G het . 2 +intergenic LINC02059(dist=134463),MIR4280(dist=230644) chr5 86180052 86180052 T C het . 5 +intergenic LINC02059(dist=134968),MIR4280(dist=230139) chr5 86180557 86180557 A G het . 4 +intergenic LOC101929380(dist=4637),RASA1(dist=15597) chr5 86548472 86548473 GG AA het . 2 +intronic CCNH,RASA1 chr5 86637349 86637349 C A het . 13 +intronic CCNH,RASA1 chr5 86667856 86667856 - A het . 17 +intronic CCNH,RASA1 chr5 86669965 86669965 T - het . 26 +intronic CCNH,RASA1 chr5 86670547 86670547 T - het . 11 +intronic CCNH,RASA1 chr5 86676187 86676187 C A het . 17 +intronic CCNH,RASA1 chr5 86679496 86679496 A - het . 10 +intronic CCNH,RASA1 chr5 86679677 86679678 TT - het . 16 +UTR3 CCNH(NM_001363539:c.*2288G>T,NM_001364076:c.*2288G>T) chr5 86686389 86686389 C A het . 5 +intronic CCNH chr5 86690341 86690341 C A het . 11 +intergenic LINC02488(dist=257464),TMEM161B(dist=251443) chr5 87232690 87232690 T C het . 4 +intergenic LINC02488(dist=269676),TMEM161B(dist=239231) chr5 87244902 87244902 C T het . 2 +intergenic LINC02488(dist=476851),TMEM161B(dist=32056) chr5 87452077 87452077 G A het . 2 +intronic TMEM161B chr5 87502325 87502325 G A het . 9 +intronic TMEM161B chr5 87516545 87516554 AAAAAAAAAA - het . 6 +ncRNA_intronic TMEM161B-AS1 chr5 87641007 87641007 A - het . 2 +ncRNA_intronic LINC02060,TMEM161B-AS1 chr5 87710911 87710911 A C het . 5 +ncRNA_intronic LINC00461 chr5 87928128 87928128 G A het . 2 +ncRNA_intronic MEF2C-AS2 chr5 88018389 88018389 A - het . 7 +intronic MEF2C chr5 88027347 88027347 - T het . 5 +intronic MEF2C chr5 88030382 88030382 G T het . 3 +intronic MEF2C chr5 88158146 88158146 G C het . 2 +intergenic MEF2C-AS1(dist=206835),MIR3660(dist=342205) chr5 88970233 88970233 - A het . 2 +intergenic LINC01339(dist=52354),CETN3(dist=50910) chr5 89638242 89638242 T - het . 2 +intergenic LINC01339(dist=75252),CETN3(dist=28010) chr5 89661140 89661142 TTA - het . 1 +intronic CETN3 chr5 89692490 89692490 G A het . 5 +intronic CETN3 chr5 89694982 89694982 C A het . 12 +exonic MBLAC2 chr5 89757151 89757151 C A het . 32 +intronic POLR3G chr5 89774818 89774821 AAAG - het . 2 +intronic POLR3G chr5 89786285 89786285 A G het . 5 +intronic POLR3G chr5 89786389 89786389 T - het . 9 +intronic POLR3G chr5 89789454 89789454 A G het . 7 +UTR3 LYSMD3(NM_001286812:c.*509_*510insGGTCA,NM_198273:c.*31_*32insGGTCA) chr5 89814604 89814604 - TGACC het . 8 +intronic LYSMD3 chr5 89819025 89819025 T G het . 3 +intergenic LYSMD3(dist=4632),ADGRV1(dist=24584) chr5 89830033 89830033 A G het . 2 +intergenic LYSMD3(dist=4660),ADGRV1(dist=24556) chr5 89830061 89830061 A G het . 2 +intergenic LYSMD3(dist=5055),ADGRV1(dist=24161) chr5 89830456 89830456 A T het . 1 +intronic ADGRV1 chr5 89981415 89981418 ATAA - het . 3 +intronic ADGRV1 chr5 90021080 90021080 C A het . 15 +intronic ADGRV1 chr5 90046348 90046348 C A het . 10 +exonic ADGRV1 chr5 90072336 90072336 C A het . 26 +intronic ADGRV1 chr5 90151795 90151795 C A het . 14 +intronic ADGRV1 chr5 90309993 90309993 C A het . 2 +intronic ADGRV1 chr5 90333141 90333141 G A het . 2 +intronic ADGRV1 chr5 90445829 90445829 - TC het . 8 +intergenic ADGRV1(dist=112529),LUCAT1(dist=26241) chr5 90572562 90572562 T A het . 1 +ncRNA_intronic LUCAT1 chr5 90601290 90601290 C T het . 1 +intronic ARRDC3 chr5 90669400 90669400 A T het . 5 +intergenic ARRDC3-AS1(dist=124371),NR2F1-AS1(dist=1904157) chr5 90840903 90840905 AAA - het . 2 +intergenic ARRDC3-AS1(dist=276929),NR2F1-AS1(dist=1751601) chr5 90993461 90993461 A G het . 1 +intergenic ARRDC3-AS1(dist=285323),NR2F1-AS1(dist=1743207) chr5 91001855 91001855 C A het . 1 +intergenic ARRDC3-AS1(dist=319109),NR2F1-AS1(dist=1709421) chr5 91035641 91035641 G A het . 2 +intergenic ARRDC3-AS1(dist=350160),NR2F1-AS1(dist=1678370) chr5 91066692 91066692 C A het . 2 +intergenic ARRDC3-AS1(dist=588779),NR2F1-AS1(dist=1439747) chr5 91305311 91305315 AAAAG - het . 2 +intergenic ARRDC3-AS1(dist=616823),NR2F1-AS1(dist=1411707) chr5 91333355 91333355 A - het . 2 +intergenic ARRDC3-AS1(dist=673575),NR2F1-AS1(dist=1354955) chr5 91390107 91390107 T G het . 1 +intergenic ARRDC3-AS1(dist=695390),NR2F1-AS1(dist=1333140) chr5 91411922 91411922 T - het . 2 +intergenic ARRDC3-AS1(dist=860015),NR2F1-AS1(dist=1168515) chr5 91576547 91576547 - A het . 3 +intergenic ARRDC3-AS1(dist=970804),NR2F1-AS1(dist=1057726) chr5 91687336 91687336 C A het . 1 +intergenic ARRDC3-AS1(dist=1887503),NR2F1-AS1(dist=141027) chr5 92604035 92604035 G A het . 11 +intergenic ARRDC3-AS1(dist=1941882),NR2F1-AS1(dist=86648) chr5 92658414 92658414 A G het . 2 +intergenic NR2F1(dist=16483),FAM172A(dist=6633) chr5 92946798 92946798 A G het . 2 +intronic KIAA0825 chr5 93495631 93495631 G C het . 1 +intronic KIAA0825 chr5 93666892 93666895 AAGG - het . 2 +intronic KIAA0825 chr5 93825293 93825293 C A het . 2 +intronic KIAA0825 chr5 93873875 93873875 G C het . 3 +intronic KIAA0825 chr5 93900652 93900656 CTTTT - het . 5 +intronic SLF1 chr5 93987720 93987720 - TTTTTTTC het . 5 +intronic SLF1 chr5 94006023 94006023 T C het . 15 +exonic SLF1 chr5 94006570 94006570 C A het . 28 +intronic MCTP1 chr5 94149556 94149556 - A het . 2 +intronic MCTP1 chr5 94149564 94149564 T A het . 2 +intronic MCTP1 chr5 94153113 94153116 AAAC - het . 5 +intronic MCTP1 chr5 94181237 94181237 T - het . 2 +exonic MCTP1 chr5 94207087 94207087 G A het . 34 +intronic MCTP1 chr5 94248829 94248829 A T het . 6 +exonic MCTP1 chr5 94275793 94275793 C T het . 16 +intronic MCTP1 chr5 94308301 94308301 A T het . 2 +intronic MCTP1 chr5 94398507 94398507 T - het . 2 +intronic MCTP1 chr5 94398515 94398515 T - het . 2 +intronic MCTP1 chr5 94404661 94404661 T - het . 2 +intronic MCTP1 chr5 94404679 94404679 C G het . 2 +intronic MCTP1 chr5 94424048 94424048 T C het . 2 +intronic MCTP1 chr5 94553542 94553542 C T het . 2 +intronic MCTP1 chr5 94606669 94606669 C T het . 1 +intergenic MCTP1(dist=17637),FAM81B(dist=89132) chr5 94637916 94637916 T A het . 2 +intergenic MCTP1(dist=50746),FAM81B(dist=56023) chr5 94671025 94671025 C T het . 2 +intronic FAM81B chr5 94784250 94784250 C A het . 7 +intronic TTC37 chr5 94805686 94805688 TTT - het . 18 +intronic TTC37 chr5 94826956 94826956 G T het . 9 +intronic TTC37 chr5 94861497 94861497 T G het . 20 +intronic TTC37 chr5 94861598 94861598 C A het . 6 +intronic ARSK chr5 94903576 94903576 T - het . 10 +intergenic GPR150(dist=11603),RFESD(dist=13032) chr5 94969449 94969449 C A het . 1 +intronic RFESD chr5 94986766 94986766 C T het . 3 +intronic SPATA9 chr5 94996186 94996186 G A het . 2 +intronic SPATA9 chr5 95042438 95042438 C G het . 1 +intronic SPATA9 chr5 95050441 95050444 AAAA - het . 3 +exonic RHOBTB3 chr5 95091267 95091267 C A het . 33 +intronic RHOBTB3 chr5 95103643 95103643 C A het . 17 +exonic ELL2 chr5 95236415 95236415 G A het . 8 +exonic ELL2 chr5 95236459 95236459 C T het . 9 +ncRNA_intronic LOC101929710 chr5 95401106 95401107 TG - het . 2 +ncRNA_intronic LOC101929710 chr5 95401125 95401125 G A het . 2 +ncRNA_intronic LOC101929710 chr5 95414786 95414786 - TAAAA het . 24 +ncRNA_intronic LOC101929710 chr5 95704305 95704305 G T het . 4 +ncRNA_intronic LOC101929710 chr5 95715456 95715456 T C het . 1 +ncRNA_intronic LOC101929710 chr5 95732975 95732975 C A het . 21 +ncRNA_intronic LOC101929710 chr5 95751549 95751549 A G het . 5 +ncRNA_intronic LOC101929710 chr5 95789384 95789384 C T het . 3 +ncRNA_intronic LOC101929710 chr5 95868737 95868742 AAAAAT - het . 2 +intronic CAST chr5 96062957 96062957 T C het . 4 +intronic CAST chr5 96089658 96089658 G A het . 5 +intronic CAST chr5 96090296 96090296 C A het . 16 +intronic CAST chr5 96093389 96093389 T C het . 14 +intronic CAST chr5 96093392 96093394 TTT - het . 10 +intronic ERAP1 chr5 96116223 96116223 A G het . 36 +intronic ERAP1 chr5 96140705 96140705 G T het . 6 +intronic ERAP1 chr5 96140740 96140740 C T het . 5 +exonic ERAP2 chr5 96239249 96239249 T G het . 3 +intronic ERAP2 chr5 96251951 96251951 C - het . 3 +intronic LNPEP chr5 96289037 96289040 AGAC - het . 3 +intronic LNPEP chr5 96289043 96289043 G T het . 3 +intergenic LIX1(dist=2672),RIOK2(dist=15379) chr5 96481192 96481192 G A het . 3 +intronic RIOK2 chr5 96503729 96503729 G - het . 13 +intronic RIOK2 chr5 96509055 96509055 G A het . 11 +intergenic RIOK2(dist=25171),LINC01340(dist=296224) chr5 96544176 96544176 C T het . 2 +intergenic RIOK2(dist=85794),LINC01340(dist=235601) chr5 96604799 96604799 T G het . 1 +intergenic RIOK2(dist=91911),LINC01340(dist=229484) chr5 96610916 96610916 T C het . 5 +intergenic RIOK2(dist=113679),LINC01340(dist=207716) chr5 96632684 96632684 G A het . 3 +intergenic RIOK2(dist=115833),LINC01340(dist=205562) chr5 96634838 96634838 G A het . 1 +intergenic RIOK2(dist=161673),LINC01340(dist=159722) chr5 96680678 96680678 G A het . 2 +intergenic RIOK2(dist=166492),LINC01340(dist=154903) chr5 96685497 96685497 A T het . 2 +ncRNA_intronic LINC02234 chr5 97220199 97220202 AAAG - het . 8 +downstream LINC01846(dist=150) chr5 97421420 97421420 - A het . 2 +ncRNA_intronic LINC01846 chr5 97471252 97471252 G A het . 3 +intergenic LINC01846(dist=100655),RGMB(dist=507401) chr5 97597598 97597598 C T het . 2 +intergenic LINC01846(dist=159930),RGMB(dist=448126) chr5 97656873 97656873 C T het . 3 +intergenic LINC01846(dist=222938),RGMB(dist=385118) chr5 97719881 97719881 - TT het . 2 +intergenic LINC01846(dist=232242),RGMB(dist=375814) chr5 97729185 97729185 A G het . 3 +intergenic LINC01846(dist=308749),RGMB(dist=299307) chr5 97805692 97805692 T C het . 2 +intergenic LINC01846(dist=392428),RGMB(dist=215628) chr5 97889371 97889371 T G het . 3 +intronic CHD1 chr5 98199049 98199049 A - het . 4 +intronic CHD1 chr5 98199077 98199077 T C het . 6 +intronic CHD1 chr5 98208016 98208016 - T het . 9 +intronic CHD1 chr5 98228483 98228483 T - het . 8 +intronic CHD1 chr5 98230221 98230221 T C het . 4 +intronic CHD1 chr5 98236002 98236002 G A het . 2 +exonic CHD1 chr5 98239584 98239584 G A het . 28 +intronic CHD1 chr5 98252275 98252275 G C het . 3 +intergenic LINC02062(dist=236267),LINC02113(dist=293702) chr5 98575992 98575992 T - het . 3 +intergenic LINC02062(dist=312501),LINC02113(dist=217468) chr5 98652226 98652226 T C het . 1 +intergenic LINC02062(dist=346324),LINC02113(dist=183645) chr5 98686049 98686049 - T het . 3 +intergenic LINC02062(dist=518731),LINC02113(dist=11238) chr5 98858456 98858456 G T het . 14 +intergenic LINC02113(dist=39442),LOC100133050(dist=762109) chr5 98953100 98953100 G A het . 2 +intergenic LINC02113(dist=42780),LOC100133050(dist=758771) chr5 98956438 98956438 A G het . 2 +intergenic LINC02113(dist=77747),LOC100133050(dist=723804) chr5 98991405 98991405 T - het . 2 +intergenic LINC02113(dist=313760),LOC100133050(dist=487791) chr5 99227418 99227418 A G het . 2 +intergenic LINC02113(dist=337767),LOC100133050(dist=463784) chr5 99251425 99251425 - TTAG het . 2 +intergenic LINC02113(dist=337788),LOC100133050(dist=463763) chr5 99251446 99251446 G A het . 2 +intergenic LINC02113(dist=358743),LOC100133050(dist=442803) chr5 99272401 99272406 TTATAG - het . 2 +intergenic LINC02113(dist=612197),LOC100133050(dist=189354) chr5 99525855 99525855 A G het . 2 +downstream LOC100133050(dist=588) chr5 99714621 99714621 T A het . 2 +intergenic LOC100133050(dist=82422),FAM174A(dist=64629) chr5 99806380 99806380 T A het . 3 +intronic FAM174A chr5 99874757 99874757 G A het . 1 +intronic FAM174A chr5 99921841 99921841 G C het . 18 +intronic FAM174A chr5 99921873 99921873 T C het . 22 +intronic ST8SIA4 chr5 100158868 100158868 A C het . 6 +intronic ST8SIA4 chr5 100165642 100165642 C T het . 1 +intergenic ST8SIA4(dist=80752),SLCO4C1(dist=1249951) chr5 100319741 100319741 C A het . 3 +intergenic ST8SIA4(dist=87535),SLCO4C1(dist=1243167) chr5 100326524 100326525 TT - het . 3 +intergenic ST8SIA4(dist=194773),SLCO4C1(dist=1135930) chr5 100433762 100433762 - T het . 2 +intergenic ST8SIA4(dist=196709),SLCO4C1(dist=1133994) chr5 100435698 100435698 - ATAATC het . 2 +intergenic ST8SIA4(dist=317454),SLCO4C1(dist=1013249) chr5 100556443 100556443 T C het . 2 +intergenic ST8SIA4(dist=321557),SLCO4C1(dist=1009146) chr5 100560546 100560546 T - het . 2 +intergenic ST8SIA4(dist=331399),SLCO4C1(dist=999301) chr5 100570388 100570391 TTCT - het . 1 +intergenic ST8SIA4(dist=732150),SLCO4C1(dist=598553) chr5 100971139 100971139 C T het . 2 +intergenic ST8SIA4(dist=921839),SLCO4C1(dist=408864) chr5 101160828 101160828 G T het . 2 +intergenic ST8SIA4(dist=945306),SLCO4C1(dist=385397) chr5 101184295 101184295 A T het . 1 +intergenic ST8SIA4(dist=1094303),SLCO4C1(dist=236400) chr5 101333292 101333292 C T het . 4 +intronic SLCO4C1 chr5 101596033 101596036 AAAT - het . 14 +intronic SLCO4C1 chr5 101596073 101596077 TATAT - het . 4 +intronic SLCO4C1 chr5 101631531 101631531 A C het . 4 +intronic SLCO4C1 chr5 101631592 101631592 A G het . 7 +intergenic SLCO4C1(dist=11375),SLCO6A1(dist=63858) chr5 101643628 101643628 T C het . 2 +intergenic SLCO4C1(dist=70938),SLCO6A1(dist=4290) chr5 101703191 101703196 AAGAGC - het . 4 +intronic SLCO6A1 chr5 101726648 101726648 C A het . 6 +intronic SLCO6A1 chr5 101739809 101739809 T C het . 4 +intronic SLCO6A1 chr5 101747415 101747415 T A het . 2 +intronic SLCO6A1 chr5 101747432 101747432 C A het . 1 +intronic SLCO6A1 chr5 101753196 101753196 G A het . 1 +intronic SLCO6A1 chr5 101760969 101760969 C G het . 2 +intronic SLCO6A1 chr5 101815839 101815839 G A het . 18 +intergenic SLCO6A1(dist=26153),LINC00492(dist=56199) chr5 101860873 101860873 G A het . 2 +intergenic SLCO6A1(dist=26162),LINC00492(dist=56190) chr5 101860882 101860882 G A het . 1 +intergenic SLCO6A1(dist=37133),LINC00492(dist=45219) chr5 101871853 101871853 T A het . 2 +intergenic SLCO6A1(dist=67688),LINC00492(dist=14664) chr5 101902408 101902408 G A het . 4 +ncRNA_intronic LINC00491 chr5 101962047 101962047 - A het . 2 +intronic PAM chr5 102190102 102190102 G T het . 2 +intronic PAM chr5 102354355 102354355 G C het . 2 +exonic PPIP5K2 chr5 102490411 102490411 T G het . 26 +intronic PPIP5K2 chr5 102494287 102494287 - T het . 7 +intronic PPIP5K2 chr5 102498766 102498766 C - het . 2 +intronic PPIP5K2 chr5 102512447 102512447 C G het . 8 +exonic PPIP5K2 chr5 102512570 102512570 - A het . 23 +intergenic C5orf30(dist=241082),LINC02115(dist=8692) chr5 102855443 102855443 C G het . 1 +UTR3 NUDT12(NM_031438:c.*316C>G,NM_001300741:c.*316C>G) chr5 102886246 102886246 G C het . 2 +intronic NUDT12 chr5 102891992 102891992 G - het . 3 +intergenic NUDT12(dist=117803),RAB9BP1(dist=1418870) chr5 103016305 103016305 A G het . 3 +intergenic NUDT12(dist=254003),RAB9BP1(dist=1282670) chr5 103152505 103152505 T - het . 4 +intergenic NUDT12(dist=313346),RAB9BP1(dist=1223327) chr5 103211848 103211848 C T het . 3 +intergenic NUDT12(dist=402687),RAB9BP1(dist=1133983) chr5 103301189 103301192 CTCA - het . 3 +intergenic NUDT12(dist=409694),RAB9BP1(dist=1126979) chr5 103308196 103308196 A G het . 2 +intergenic NUDT12(dist=500646),RAB9BP1(dist=1036027) chr5 103399148 103399148 T C het . 2 +intergenic NUDT12(dist=575070),RAB9BP1(dist=961603) chr5 103473572 103473572 A C het . 1 +intergenic NUDT12(dist=578417),RAB9BP1(dist=958256) chr5 103476919 103476919 A T het . 2 +intergenic NUDT12(dist=1015200),RAB9BP1(dist=521473) chr5 103913702 103913702 - A het . 2 +intergenic NUDT12(dist=1015208),RAB9BP1(dist=521465) chr5 103913710 103913710 C T het . 2 +intergenic NUDT12(dist=1370038),RAB9BP1(dist=166635) chr5 104268540 104268540 T C het . 3 +intergenic NUDT12(dist=1426090),RAB9BP1(dist=110583) chr5 104324592 104324592 A G het . 2 +intergenic NUDT12(dist=1470487),RAB9BP1(dist=66185) chr5 104368989 104368990 AA TT het . 2 +intergenic NUDT12(dist=1472068),RAB9BP1(dist=64605) chr5 104370570 104370570 C T het . 2 +intergenic NUDT12(dist=1481526),RAB9BP1(dist=55147) chr5 104380028 104380028 - TTAT het . 2 +intergenic RAB9BP1(dist=87756),LINC01950(dist=1627343) chr5 104523555 104523555 A - het . 2 +intergenic RAB9BP1(dist=218088),LINC01950(dist=1497011) chr5 104653887 104653887 T C het . 3 +intergenic RAB9BP1(dist=310276),LINC01950(dist=1404823) chr5 104746075 104746075 G A het . 2 +intergenic RAB9BP1(dist=347389),LINC01950(dist=1367710) chr5 104783188 104783188 C A het . 2 +intergenic RAB9BP1(dist=589054),LINC01950(dist=1126041) chr5 105024853 105024857 TCTTA - het . 2 +intergenic RAB9BP1(dist=602908),LINC01950(dist=1112191) chr5 105038707 105038707 C T het . 2 +intergenic RAB9BP1(dist=773426),LINC01950(dist=941673) chr5 105209225 105209225 A G het . 1 +intergenic RAB9BP1(dist=791649),LINC01950(dist=923449) chr5 105227448 105227449 AA - het . 3 +intergenic RAB9BP1(dist=813538),LINC01950(dist=901561) chr5 105249337 105249337 T C het . 3 +intergenic RAB9BP1(dist=813567),LINC01950(dist=901532) chr5 105249366 105249366 C T het . 3 +intergenic RAB9BP1(dist=908809),LINC01950(dist=806290) chr5 105344608 105344608 A C het . 3 +intergenic RAB9BP1(dist=951646),LINC01950(dist=763453) chr5 105387445 105387445 C T het . 2 +intergenic RAB9BP1(dist=1095681),LINC01950(dist=619418) chr5 105531480 105531480 G A het . 1 +intergenic RAB9BP1(dist=1114433),LINC01950(dist=600663) chr5 105550232 105550235 TTAT - het . 2 +intergenic RAB9BP1(dist=1117850),LINC01950(dist=597249) chr5 105553649 105553649 T C het . 1 +intergenic RAB9BP1(dist=1387148),LINC01950(dist=327951) chr5 105822947 105822947 T A het . 2 +intergenic RAB9BP1(dist=1411396),LINC01950(dist=303703) chr5 105847195 105847195 A G het . 2 +intergenic RAB9BP1(dist=1640284),LINC01950(dist=74815) chr5 106076083 106076083 A C het . 2 +intergenic RAB9BP1(dist=1653539),LINC01950(dist=61559) chr5 106089338 106089339 AA - het . 2 +ncRNA_intronic LINC01950 chr5 106296573 106296573 C T het . 2 +intergenic LINC01950(dist=171729),EFNA5(dist=194146) chr5 106518444 106518444 T C het . 1 +intergenic LINC01950(dist=176306),EFNA5(dist=189569) chr5 106523021 106523021 C A het . 2 +intronic EFNA5 chr5 106872809 106872809 A - het . 4 +UTR5 EFNA5(NM_001962:c.-132A>C) chr5 107006446 107006446 T G het . 3 +intergenic EFNA5(dist=113084),FBXL17(dist=75054) chr5 107119680 107119680 A T het . 2 +intronic FBXL17 chr5 107266694 107266694 T - het . 2 +intronic FBXL17 chr5 107296793 107296793 T C het . 2 +intronic FBXL17 chr5 107332259 107332259 G A het . 2 +intronic FBXL17 chr5 107404160 107404160 G - het . 2 +intronic FBXL17 chr5 107444652 107444652 T C het . 1 +intronic FBXL17 chr5 107460819 107460819 A T het . 2 +intronic FBXL17 chr5 107474147 107474147 G C het . 2 +intronic FBXL17 chr5 107560790 107560790 C T het . 2 +intronic FBXL17 chr5 107627145 107627145 G A het . 2 +intronic FBXL17 chr5 107627167 107627167 G T het . 2 +intronic FBXL17 chr5 107657414 107657414 A T het . 2 +intronic FBXL17 chr5 107689893 107689893 C T het . 4 +intronic FBXL17 chr5 107713922 107713922 A G het . 3 +exonic FBXL17 chr5 107716888 107716888 A G het . 7 +intergenic FBXL17(dist=61443),LINC01023(dist=284284) chr5 107779242 107779242 C A het . 2 +intergenic FBXL17(dist=68605),LINC01023(dist=277122) chr5 107786404 107786404 G A het . 4 +intergenic FBXL17(dist=70583),LINC01023(dist=275144) chr5 107788382 107788382 C T het . 2 +intergenic FBXL17(dist=211903),LINC01023(dist=133822) chr5 107929702 107929704 AAA - het . 5 +intergenic FBXL17(dist=259070),LINC01023(dist=86657) chr5 107976869 107976869 A - het . 7 +intergenic FBXL17(dist=284821),LINC01023(dist=60906) chr5 108002620 108002620 A G het . 2 +intergenic FBXL17(dist=316456),LINC01023(dist=29271) chr5 108034255 108034255 C T het . 2 +intergenic FER(dist=11436),LOC285638(dist=28859) chr5 108543977 108543977 G A het . 1 +intronic PJA2 chr5 108679826 108679826 C A het . 2 +intronic PJA2 chr5 108679870 108679870 - TTAA het . 7 +intronic PJA2 chr5 108680647 108680647 C A het . 4 +intronic PJA2 chr5 108730070 108730070 C T het . 3 +intergenic PJA2(dist=10910),MAN2A1(dist=268482) chr5 108756585 108756585 A G het . 2 +intergenic PJA2(dist=10919),MAN2A1(dist=268473) chr5 108756594 108756594 C A het . 1 +intergenic PJA2(dist=22394),MAN2A1(dist=256998) chr5 108768069 108768069 C G het . 1 +intergenic PJA2(dist=65665),MAN2A1(dist=213727) chr5 108811340 108811340 G T het . 2 +intergenic PJA2(dist=155041),MAN2A1(dist=124351) chr5 108900716 108900716 G A het . 1 +intergenic PJA2(dist=162733),MAN2A1(dist=116659) chr5 108908408 108908408 C T het . 2 +intronic MAN2A1 chr5 109035798 109035798 T G het . 3 +intronic MAN2A1 chr5 109049507 109049507 C G het . 6 +exonic MAN2A1 chr5 109110535 109110535 C T het . 29 +intronic MAN2A1 chr5 109132962 109132962 T A het . 3 +intronic MAN2A1 chr5 109148020 109148020 T C het . 1 +intronic MAN2A1 chr5 109170135 109170135 A - het . 2 +exonic MAN2A1 chr5 109202682 109202682 C A het . 19 +intergenic LINC01848(dist=167704),TMEM232(dist=366890) chr5 109388308 109388308 A G het . 3 +intergenic LINC01848(dist=339945),TMEM232(dist=194649) chr5 109560549 109560549 T C het . 1 +intergenic LINC01848(dist=393733),TMEM232(dist=140861) chr5 109614337 109614337 - TTTA het . 2 +intergenic LINC01848(dist=504117),TMEM232(dist=30477) chr5 109724721 109724721 G A het . 4 +intronic TMEM232 chr5 109769454 109769454 T - het . 1 +intronic SLC25A46 chr5 110084154 110084154 T C het . 2 +intergenic SLC25A46(dist=62332),TSLP(dist=244184) chr5 110163206 110163206 T C het . 2 +intergenic SLC25A46(dist=88115),TSLP(dist=218401) chr5 110188989 110188989 A - het . 2 +intergenic SLC25A46(dist=107004),TSLP(dist=199512) chr5 110207878 110207878 C T het . 2 +intergenic SLC25A46(dist=183496),TSLP(dist=123020) chr5 110284370 110284370 A C het . 19 +intergenic SLC25A46(dist=183552),TSLP(dist=122962) chr5 110284426 110284428 TTT - het . 25 +upstream TSLP(dist=115) chr5 110407274 110407275 TT - het . 8 +intronic WDR36 chr5 110438001 110438001 A - het . 27 +intronic WDR36 chr5 110438357 110438357 A G het . 2 +intronic WDR36 chr5 110443202 110443202 C A het . 24 +intronic WDR36 chr5 110443228 110443228 C T het . 13 +intronic WDR36 chr5 110445661 110445661 C A het . 17 +intronic WDR36 chr5 110448752 110448752 - A het . 11 +intronic WDR36 chr5 110448753 110448753 T A het . 11 +intronic WDR36 chr5 110448951 110448951 C A het . 20 +intronic WDR36 chr5 110459732 110459732 C A het . 35 +intergenic WDR36(dist=8591),CAMK4(dist=84558) chr5 110474791 110474793 AAA - het . 2 +intergenic WDR36(dist=27440),CAMK4(dist=65711) chr5 110493640 110493640 G A het . 2 +intergenic WDR36(dist=49310),CAMK4(dist=43841) chr5 110515510 110515510 T G het . 1 +upstream CAMK4(dist=469) chr5 110558882 110558882 A G het . 2 +upstream CAMK4(dist=458) chr5 110558893 110558893 - A het . 2 +intronic CAMK4 chr5 110695291 110695291 A C het . 1 +exonic CAMK4 chr5 110819753 110819753 G C het . 8 +ncRNA_intronic STARD4-AS1 chr5 110976499 110976499 C T het . 1 +ncRNA_intronic STARD4-AS1 chr5 110982496 110982496 T C het . 3 +ncRNA_intronic STARD4-AS1 chr5 111021078 111021078 T C het . 2 +ncRNA_intronic STARD4-AS1 chr5 111042392 111042392 C A het . 3 +ncRNA_intronic STARD4-AS1 chr5 111052217 111052217 T C het . 2 +ncRNA_intronic STARD4-AS1 chr5 111060135 111060135 - AT het . 3 +ncRNA_intronic NREP-AS1 chr5 111281231 111281231 A - het . 5 +ncRNA_intronic NREP-AS1 chr5 111302991 111302991 - T het . 2 +intronic EPB41L4A chr5 111479955 111479955 G T het . 2 +intronic EPB41L4A chr5 111479971 111479971 A G het . 1 +splicing EPB41L4A(NM_022140:exon23:c.1933-1->TTTTA) chr5 111500816 111500816 - TAAAA het . 14 +intronic EPB41L4A chr5 111500822 111500822 - AAA het . 19 +intronic EPB41L4A chr5 111500824 111500824 - AC het . 19 +intronic EPB41L4A chr5 111615956 111615956 G A het . 15 +intronic EPB41L4A chr5 111680579 111680579 T G het . 2 +intronic EPB41L4A chr5 111697408 111697410 AAT - het . 1 +exonic EPB41L4A chr5 111754684 111754684 A G het . 20 +intergenic EPB41L4A-DT(dist=170675),LINC02200(dist=36781) chr5 111927352 111927352 C T het . 2 +intergenic EPB41L4A-DT(dist=183001),LINC02200(dist=24455) chr5 111939678 111939678 A G het . 3 +intergenic LINC02200(dist=2805),LOC102467216(dist=22702) chr5 111969423 111969423 A G het . 1 +intergenic LINC02200(dist=2825),LOC102467216(dist=22682) chr5 111969443 111969443 A - het . 1 +ncRNA_intronic LOC102467216 chr5 112016892 112016892 A G het . 2 +intronic APC chr5 112113848 112113848 G T het . 5 +intronic APC chr5 112113854 112113854 T C het . 5 +intronic APC chr5 112113875 112113875 A G het . 6 +intronic APC chr5 112119463 112119465 AAA - het . 10 +intronic APC chr5 112119656 112119656 T - het . 5 +intronic APC chr5 112164747 112164747 A G het . 17 +exonic APC chr5 112174359 112174359 C A het . 41 +intronic SRP19 chr5 112199974 112199974 C T het . 2 +intronic SRP19 chr5 112204207 112204207 C T het . 4 +intronic SRP19 chr5 112208786 112208786 T - het . 2 +intronic REEP5 chr5 112237915 112237915 G T het . 2 +intergenic REEP5(dist=8155),DCP2(dist=46221) chr5 112266186 112266186 T - het . 2 +exonic DCP2 chr5 112312676 112312676 T C het . 4 +intronic DCP2 chr5 112328598 112328598 C - het . 3 +intronic DCP2 chr5 112346432 112346432 G - het . 7 +intronic MCC chr5 112370483 112370483 T C het . 1 +exonic MCC chr5 112399791 112399791 G A het . 12 +intronic MCC chr5 112418805 112418805 G A het . 3 +intronic MCC chr5 112482723 112482723 T C het . 2 +intronic MCC chr5 112755057 112755057 T G het . 3 +exonic MCC chr5 112824039 112824039 T C het . 4 +exonic MCC chr5 112824048 112824048 - GCC het . 2 +intergenic YTHDC2(dist=100978),KCNN2(dist=666054) chr5 113031962 113031962 A G het . 3 +intergenic YTHDC2(dist=146131),KCNN2(dist=620901) chr5 113077115 113077115 - T het . 2 +intergenic YTHDC2(dist=248386),KCNN2(dist=518646) chr5 113179370 113179370 T C het . 3 +intergenic YTHDC2(dist=270787),KCNN2(dist=496245) chr5 113201771 113201771 C G het . 1 +intergenic YTHDC2(dist=552523),KCNN2(dist=214509) chr5 113483507 113483507 G A het . 1 +intergenic YTHDC2(dist=604325),KCNN2(dist=162707) chr5 113535309 113535309 - T het . 2 +intergenic YTHDC2(dist=604561),KCNN2(dist=162471) chr5 113535545 113535545 A C het . 3 +intergenic YTHDC2(dist=614066),KCNN2(dist=152966) chr5 113545050 113545050 A G het . 1 +intergenic YTHDC2(dist=654003),KCNN2(dist=113029) chr5 113584987 113584987 C T het . 2 +intergenic YTHDC2(dist=686376),KCNN2(dist=80656) chr5 113617360 113617360 G C het . 3 +intronic KCNN2 chr5 113699757 113699757 C T het . 6 +intronic KCNN2 chr5 113729671 113729672 AT - het . 2 +intronic KCNN2 chr5 113779182 113779182 G A het . 3 +ncRNA_intronic LOC101927078 chr5 113822458 113822458 A - het . 14 +ncRNA_intronic LOC101927078 chr5 113864484 113864484 T C het . 2 +ncRNA_intronic LOC101927078 chr5 113972236 113972236 G A het . 2 +ncRNA_intronic LOC101927078 chr5 114062208 114062208 G A het . 2 +intergenic LOC101927078(dist=174494),TRIM36(dist=176855) chr5 114283604 114283604 C A het . 2 +intergenic LOC101927078(dist=323312),TRIM36(dist=28037) chr5 114432422 114432422 T C het . 1 +intronic CCDC112 chr5 114617284 114617284 T C het . 4 +intergenic CCDC112(dist=18355),FEM1C(dist=205795) chr5 114650813 114650813 G A het . 1 +intergenic CCDC112(dist=93306),FEM1C(dist=130844) chr5 114725764 114725764 C G het . 8 +intergenic LOC102467217(dist=14245),CDO1(dist=117835) chr5 115022594 115022595 AT - het . 2 +intronic CDO1 chr5 115149136 115149136 C A het . 7 +UTR5 AP3S1(NM_001318090:c.-67_-66insAGGC,NM_001318094:c.-67_-66insAGGC,NM_001318093:c.-67_-66insAGGC,NM_001318091:c.-67_-66insAGGC,NM_001284:c.-67_-66insAGGC,NM_001002924:c.-11041_-11040insAGGC,NM_001364122:c.-67_-66insAGGC,NM_001364119:c.-67_-66insAGGC,NM_001364120:c.-67_-66insAGGC) chr5 115177668 115177668 - AGGC het . 6 +intronic AP3S1 chr5 115192339 115192339 - ATT het . 4 +intronic AP3S1 chr5 115192340 115192340 G T het . 4 +intronic AP3S1 chr5 115205686 115205686 A G het . 14 +exonic AP3S1 chr5 115249078 115249078 C T het . 14 +intergenic AP3S1(dist=21173),LINC-ADAL(dist=21317) chr5 115270951 115270951 A G het . 2 +intronic LVRN chr5 115335634 115335634 C A het . 17 +intronic LVRN chr5 115346728 115346728 G A het . 2 +intronic ARL14EPL chr5 115387421 115387421 A G het . 2 +intronic ARL14EPL chr5 115387984 115387984 C A het . 42 +intronic ARL14EPL chr5 115388019 115388019 T C het . 21 +intronic ARL14EPL chr5 115388022 115388022 A C het . 21 +intronic ARL14EPL chr5 115389984 115389984 C T het . 6 +intronic COMMD10 chr5 115436407 115436407 A G het . 1 +intronic COMMD10 chr5 115445812 115445812 T A het . 2 +intronic COMMD10 chr5 115490669 115490669 C T het . 2 +intergenic LOC101927190(dist=8578),SEMA6A(dist=60406) chr5 115718845 115718845 T C het . 1 +intergenic LOC101927190(dist=16442),SEMA6A(dist=52542) chr5 115726709 115726709 T C het . 2 +intronic SEMA6A chr5 115827407 115827407 G A het . 13 +intronic SEMA6A chr5 115829425 115829425 G T het . 1 +intronic SEMA6A chr5 115837772 115837772 G A het . 2 +intergenic SEMA6A-AS2(dist=109846),LINC02214(dist=22256) chr5 116056742 116056742 A - het . 2 +ncRNA_intronic LINC02214 chr5 116079882 116079882 A C het . 3 +ncRNA_intronic LINC02214 chr5 116080112 116080112 G A het . 2 +intergenic LINC02214(dist=123921),LINC00992(dist=529382) chr5 116221826 116221826 C G het . 2 +intergenic LINC02214(dist=346248),LINC00992(dist=307055) chr5 116444153 116444153 G A het . 1 +intergenic LINC02214(dist=466240),LINC00992(dist=187063) chr5 116564145 116564145 - A het . 1 +intergenic LINC02214(dist=466259),LINC00992(dist=187044) chr5 116564164 116564164 A G het . 2 +intergenic LINC02214(dist=479930),LINC00992(dist=173373) chr5 116577835 116577835 T C het . 2 +intergenic LINC02214(dist=515992),LINC00992(dist=137311) chr5 116613897 116613897 G A het . 2 +intergenic LINC02214(dist=522257),LINC00992(dist=131046) chr5 116620162 116620162 T C het . 4 +intergenic LINC02214(dist=522288),LINC00992(dist=131015) chr5 116620193 116620193 G C het . 3 +ncRNA_intronic LINC00992 chr5 116786393 116786393 G A het . 3 +ncRNA_intronic LINC00992 chr5 116786442 116786445 CTTC - het . 4 +ncRNA_intronic LINC00992 chr5 116901057 116901057 A T het . 2 +ncRNA_intronic LINC00992 chr5 116911350 116911350 A T het . 2 +intergenic LINC00992(dist=51714),LINC02147(dist=98903) chr5 116967153 116967153 C G het . 1 +ncRNA_intronic LINC02147 chr5 117114411 117114411 A G het . 3 +ncRNA_intronic LINC02147 chr5 117146364 117146364 T C het . 1 +ncRNA_intronic LINC02147 chr5 117146434 117146434 - TTTCC het . 2 +ncRNA_intronic LINC02147 chr5 117226513 117226513 C T het . 1 +ncRNA_intronic LINC02147 chr5 117294654 117294654 A - het . 2 +ncRNA_intronic LINC02147 chr5 117324813 117324815 TTC - het . 2 +ncRNA_intronic LINC02147 chr5 117333891 117333891 - G het . 1 +ncRNA_intronic LINC02147 chr5 117358629 117358629 T C het . 2 +ncRNA_intronic LINC02147 chr5 117395521 117395521 T A het . 2 +ncRNA_intronic LINC02147 chr5 117539695 117539695 C A het . 2 +intergenic LINC02147(dist=3196),LINC02148(dist=13316) chr5 117604953 117604953 C T het . 2 +intergenic LINC02148(dist=51190),LINC02208(dist=15005) chr5 117671662 117671662 T A het . 2 +ncRNA_intronic LINC02208 chr5 117816289 117816289 T C het . 3 +intergenic LINC02208(dist=27739),LINC02215(dist=6332) chr5 117925551 117925551 C A het . 2 +intergenic LINC02215(dist=109564),DTWD2(dist=98417) chr5 118073351 118073352 TC - het . 4 +intergenic LINC02215(dist=109573),DTWD2(dist=98409) chr5 118073360 118073360 C A het . 4 +intergenic LINC02215(dist=109577),DTWD2(dist=98405) chr5 118073364 118073364 C A het . 3 +intronic DMXL1 chr5 118465215 118465215 G A het . 13 +intronic DMXL1 chr5 118465249 118465249 A G het . 9 +intronic DMXL1 chr5 118470332 118470332 C A het . 2 +intronic DMXL1 chr5 118500982 118500985 AAAA - het . 8 +intronic DMXL1 chr5 118503071 118503072 AT - het . 5 +intronic DMXL1 chr5 118517644 118517644 G A het . 2 +intronic DMXL1 chr5 118576096 118576096 - T het . 18 +intronic TNFAIP8 chr5 118691121 118691121 G T het . 6 +intronic TNFAIP8 chr5 118691929 118691929 A T het . 4 +intronic HSD17B4 chr5 118861429 118861429 C A het . 3 +intronic HSD17B4 chr5 118861449 118861449 C A het . 4 +intronic HSD17B4 chr5 118862735 118862735 T C het . 21 +intronic HSD17B4 chr5 118867263 118867263 G T het . 9 +intergenic HSD17B4(dist=75501),FAM170A(dist=11723) chr5 118953531 118953531 T G het . 1 +intergenic FAM170A(dist=45112),PRR16(dist=783344) chr5 119016629 119016629 T C het . 4 +intergenic FAM170A(dist=180863),PRR16(dist=647593) chr5 119152380 119152380 T A het . 1 +intergenic FAM170A(dist=739494),PRR16(dist=88962) chr5 119711011 119711011 C T het . 1 +intronic PRR16 chr5 119920196 119920196 G T het . 2 +intronic PRR16 chr5 119930430 119930430 G A het . 1 +intronic PRR16 chr5 120011110 120011110 C T het . 3 +exonic PRR16 chr5 120021926 120021926 C A het . 19 +intergenic PRR16(dist=36156),LOC102467226(dist=599064) chr5 120059181 120059181 T C het . 2 +intergenic PRR16(dist=44115),LOC102467226(dist=591105) chr5 120067140 120067140 T C het . 2 +intergenic PRR16(dist=77759),LOC102467226(dist=557461) chr5 120100784 120100784 A G het . 2 +intergenic PRR16(dist=79003),LOC102467226(dist=556217) chr5 120102028 120102028 T C het . 2 +intergenic PRR16(dist=89477),LOC102467226(dist=545743) chr5 120112502 120112502 T A het . 2 +intergenic PRR16(dist=89479),LOC102467226(dist=545741) chr5 120112504 120112504 C A het . 2 +intergenic PRR16(dist=89496),LOC102467226(dist=545724) chr5 120112521 120112521 - A het . 2 +intergenic PRR16(dist=92254),LOC102467226(dist=542966) chr5 120115279 120115279 A G het . 2 +intergenic PRR16(dist=133597),LOC102467226(dist=501623) chr5 120156622 120156622 C T het . 2 +intergenic PRR16(dist=195775),LOC102467226(dist=439445) chr5 120218800 120218800 T - het . 2 +intergenic PRR16(dist=272127),LOC102467226(dist=363093) chr5 120295152 120295152 C A het . 1 +intergenic PRR16(dist=363490),LOC102467226(dist=271730) chr5 120386515 120386515 T C het . 2 +intergenic PRR16(dist=415633),LOC102467226(dist=219587) chr5 120438658 120438658 T C het . 3 +intergenic PRR16(dist=498717),LOC102467226(dist=136503) chr5 120521742 120521742 T C het . 5 +intergenic PRR16(dist=532078),LOC102467226(dist=103142) chr5 120555103 120555103 - ATAC het . 3 +intergenic PRR16(dist=611294),LOC102467226(dist=23926) chr5 120634319 120634319 C A het . 2 +intergenic LOC102467226(dist=3636),FTMT(dist=522482) chr5 120665168 120665168 G C het . 2 +intergenic LOC102467226(dist=18564),FTMT(dist=507554) chr5 120680096 120680096 C A het . 2 +intergenic LOC102467226(dist=32938),FTMT(dist=493180) chr5 120694470 120694470 C A het . 2 +intergenic LOC102467226(dist=173112),FTMT(dist=353006) chr5 120834644 120834644 A C het . 1 +intergenic LOC102467226(dist=346042),FTMT(dist=180076) chr5 121007574 121007574 A C het . 3 +intergenic LOC102467226(dist=362019),FTMT(dist=164099) chr5 121023551 121023551 C T het . 2 +intergenic FTMT(dist=43957),SRFBP1(dist=65176) chr5 121232480 121232480 A C het . 2 +intergenic FTMT(dist=45343),SRFBP1(dist=63790) chr5 121233866 121233866 A T het . 2 +intergenic FTMT(dist=79421),SRFBP1(dist=29712) chr5 121267944 121267944 T C het . 3 +intergenic FTMT(dist=79464),SRFBP1(dist=29669) chr5 121267987 121267987 A T het . 2 +intergenic FTMT(dist=79473),SRFBP1(dist=29660) chr5 121267996 121267996 T C het . 1 +intergenic FTMT(dist=80603),SRFBP1(dist=28530) chr5 121269126 121269126 T C het . 2 +intergenic FTMT(dist=80608),SRFBP1(dist=28525) chr5 121269131 121269131 G A het . 2 +intronic SRFBP1 chr5 121355138 121355139 AA - het . 10 +intronic LOX chr5 121409180 121409180 G C het . 2 +intergenic LOC100505841(dist=63630),SNCAIP(dist=65776) chr5 121581988 121581988 G T het . 1 +intergenic LOC100505841(dist=69493),SNCAIP(dist=59913) chr5 121587851 121587851 T C het . 1 +intergenic LOC100505841(dist=105374),SNCAIP(dist=24032) chr5 121623732 121623732 C G het . 4 +intronic SNCAIP chr5 121695988 121695988 T C het . 2 +intronic SNCAIP chr5 121726714 121726714 G A het . 16 +ncRNA_intronic MGC32805 chr5 121787399 121787399 - A het . 4 +intergenic MGC32805(dist=48192),LOC101927357(dist=54220) chr5 121862974 121862974 G T het . 2 +intergenic MGC32805(dist=75954),LOC101927357(dist=26458) chr5 121890736 121890736 A G het . 3 +intergenic MGC32805(dist=75969),LOC101927357(dist=26443) chr5 121890751 121890751 G T het . 1 +intergenic MGC32805(dist=78610),LOC101927357(dist=23802) chr5 121893392 121893392 C A het . 2 +intergenic LOC101927357(dist=39660),LINC02201(dist=4692) chr5 121959955 121959955 A C het . 4 +intergenic LINC02201(dist=17752),SNX2(dist=26684) chr5 122084007 122084007 A G het . 1 +intronic SNX2 chr5 122123607 122123607 A G het . 1 +intronic SNX2 chr5 122137703 122137703 C A het . 24 +intronic SNX24 chr5 122317365 122317368 TTTG - het . 4 +exonic PPIC chr5 122364538 122364538 T C het . 23 +UTR5 PPIC(NM_000943:c.-82C>G) chr5 122372402 122372402 G C het . 2 +intergenic PPIC(dist=44144),LOC105379152(dist=5358) chr5 122416569 122416569 - T het . 2 +intronic PRDM6 chr5 122442627 122442627 C T het . 1 +intronic PRDM6 chr5 122457908 122457908 G A het . 3 +intronic PRDM6 chr5 122470027 122470027 C A het . 2 +intronic PRDM6 chr5 122476329 122476329 C A het . 4 +intergenic PRDM6(dist=65631),CEP120(dist=84988) chr5 122595591 122595591 A G het . 1 +intronic CEP120 chr5 122685801 122685801 G A het . 13 +intronic CEP120 chr5 122718044 122718044 G T het . 12 +intronic CEP120 chr5 122729376 122729376 G A het . 7 +intronic CEP120 chr5 122753918 122753918 - CTTA het . 3 +intronic CEP120 chr5 122754294 122754296 TTT - het . 6 +intronic CSNK1G3 chr5 122896447 122896447 T C het . 2 +intronic CSNK1G3 chr5 122926427 122926427 G A het . 2 +intronic CSNK1G3 chr5 122941097 122941097 C A het . 21 +intronic CSNK1G3 chr5 122941099 122941099 G C het . 21 +intergenic CSNK1G3(dist=50810),LINC01170(dist=391939) chr5 123003548 123003548 A C het . 1 +intergenic CSNK1G3(dist=66340),LINC01170(dist=376409) chr5 123019078 123019078 C T het . 3 +intergenic CSNK1G3(dist=144016),LINC01170(dist=298733) chr5 123096754 123096754 G A het . 2 +intergenic CSNK1G3(dist=149384),LINC01170(dist=293365) chr5 123102122 123102122 - TT het . 2 +intergenic CSNK1G3(dist=149391),LINC01170(dist=293358) chr5 123102129 123102129 T - het . 2 +intergenic CSNK1G3(dist=265268),LINC01170(dist=177481) chr5 123218006 123218006 C G het . 2 +intergenic CSNK1G3(dist=384611),LINC01170(dist=58138) chr5 123337349 123337349 C A het . 2 +intergenic CSNK1G3(dist=416691),LINC01170(dist=26058) chr5 123369429 123369429 G C het . 1 +ncRNA_intronic LINC01170 chr5 123412650 123412650 G A het . 3 +ncRNA_intronic LINC01170 chr5 123439933 123439933 T A het . 2 +ncRNA_intronic LINC01170 chr5 123665757 123665757 A - het . 2 +exonic ZNF608 chr5 123983915 123983915 G T het . 41 +intronic ZNF608 chr5 124079547 124079547 - AGC het . 11 +intergenic ZNF608(dist=236803),LOC101927421(dist=54916) chr5 124317608 124317608 G A het . 2 +ncRNA_intronic LOC101927421 chr5 124420575 124420575 C T het . 3 +ncRNA_intronic LOC101927421 chr5 124585767 124585767 T G het . 2 +ncRNA_intronic LOC101927421 chr5 124588390 124588390 C T het . 2 +ncRNA_intronic LOC101927421 chr5 124588406 124588406 C A het . 1 +ncRNA_intronic LOC101927421 chr5 124615828 124615828 C T het . 1 +ncRNA_intronic LINC02240 chr5 124859934 124859934 T A het . 2 +ncRNA_intronic LINC02240 chr5 124860314 124860314 A - het . 3 +ncRNA_intronic LINC02240 chr5 124915851 124915851 A G het . 1 +intergenic LINC02240(dist=239231),LINC02039(dist=338119) chr5 125177151 125177151 G T het . 2 +intergenic LINC02240(dist=239256),LINC02039(dist=338094) chr5 125177176 125177176 T C het . 3 +intergenic LINC02240(dist=387196),LINC02039(dist=190154) chr5 125325116 125325116 T G het . 2 +intergenic LINC02240(dist=387198),LINC02039(dist=190152) chr5 125325118 125325118 T C het . 2 +intergenic LINC02240(dist=467044),LINC02039(dist=110306) chr5 125404964 125404964 C T het . 2 +ncRNA_intronic LINC02039 chr5 125522679 125522679 C A het . 3 +ncRNA_intronic LINC02039 chr5 125522684 125522684 T C het . 3 +intergenic LINC02039(dist=14213),LOC101927488(dist=64454) chr5 125543756 125543756 A G het . 2 +intergenic LINC02039(dist=25741),LOC101927488(dist=52926) chr5 125555284 125555284 T C het . 2 +intergenic LINC02039(dist=53107),LOC101927488(dist=25560) chr5 125582650 125582650 G C het . 2 +intronic GRAMD2B chr5 125793848 125793849 CA TG het . 2 +exonic GRAMD2B chr5 125820098 125820098 C A het . 8 +intergenic GRAMD2B(dist=27941),ALDH7A1(dist=19739) chr5 125857794 125857794 C A het . 3 +intergenic GRAMD2B(dist=34205),ALDH7A1(dist=13475) chr5 125864058 125864058 A G het . 2 +intronic ALDH7A1 chr5 125918749 125918749 C A het . 29 +intronic PHAX chr5 125943663 125943663 G C het . 1 +intronic PHAX chr5 125944219 125944219 - TGTTTT het . 11 +intergenic TEX43(dist=28097),LMNB1-DT(dist=87583) chr5 126000071 126000072 TC - het . 3 +intergenic TEX43(dist=92211),LMNB1-DT(dist=23470) chr5 126064185 126064185 T C het . 4 +intronic LMNB1 chr5 126130975 126130975 A G het . 2 +intronic LMNB1 chr5 126131379 126131379 A G het . 4 +intronic LMNB1 chr5 126156532 126156532 T - het . 5 +intronic LMNB1 chr5 126168564 126168564 G - het . 18 +intronic MEGF10 chr5 126751728 126751728 G T het . 2 +intergenic MEGF10(dist=50155),PRRC1(dist=6236) chr5 126847065 126847065 C A het . 11 +intergenic PRRC1(dist=70889),CTXN3(dist=23044) chr5 126961669 126961669 T C het . 2 +intergenic PRRC1(dist=92882),CTXN3(dist=1051) chr5 126983662 126983662 G T het . 3 +intergenic CTXN3(dist=3859),CCDC192(dist=40900) chr5 126998181 126998181 C T het . 3 +intronic CCDC192 chr5 127152481 127152481 G A het . 2 +intronic CCDC192 chr5 127225100 127225100 T - het . 5 +intronic CCDC192 chr5 127225652 127225652 C T het . 3 +ncRNA_intronic LINC01184 chr5 127285607 127285607 A G het . 3 +ncRNA_intronic LINC01184 chr5 127304998 127304998 - CAGCATAATTGGTTGGT het . 2 +ncRNA_intronic LINC01184 chr5 127309442 127309442 A G het . 1 +intronic SLC12A2 chr5 127433798 127433798 A G het . 2 +intronic SLC12A2 chr5 127441861 127441861 C A het . 1 +intronic SLC12A2 chr5 127471389 127471389 C A het . 32 +intronic SLC12A2 chr5 127485599 127485599 C T het . 16 +intronic SLC12A2 chr5 127494558 127494558 T - het . 2 +intronic SLC12A2 chr5 127507160 127507160 G A het . 8 +intronic FBN2 chr5 127607610 127607610 C A het . 21 +intronic FBN2 chr5 127646860 127646860 A - het . 11 +exonic FBN2 chr5 127666298 127666298 C T het . 29 +intronic FBN2 chr5 127685430 127685430 C A het . 6 +intronic FBN2 chr5 127700694 127700694 C A het . 2 +intronic FBN2 chr5 127701810 127701810 A C het . 2 +intronic FBN2 chr5 127705251 127705251 T C het . 4 +intergenic FBN2(dist=3533),SLC27A6(dist=423552) chr5 127877268 127877268 G A het . 2 +intergenic FBN2(dist=151053),SLC27A6(dist=276032) chr5 128024788 128024788 A G het . 2 +intergenic FBN2(dist=249917),SLC27A6(dist=177168) chr5 128123652 128123652 G T het . 1 +intergenic FBN2(dist=249927),SLC27A6(dist=177158) chr5 128123662 128123662 T - het . 1 +intergenic FBN2(dist=251489),SLC27A6(dist=175596) chr5 128125224 128125224 G A het . 2 +intronic SLC27A6 chr5 128329045 128329045 C T het . 2 +intergenic SLC27A6(dist=8604),ISOC1(dist=52503) chr5 128377939 128377939 A C het . 5 +exonic ISOC1 chr5 128430757 128430757 T C het . 3 +intergenic ISOC1(dist=147657),MIR4460(dist=135379) chr5 128597376 128597376 G A het . 1 +intergenic ISOC1(dist=232226),MIR4460(dist=50807) chr5 128681945 128681948 AACT - het . 2 +intergenic ISOC1(dist=239618),MIR4460(dist=43418) chr5 128689337 128689337 T G het . 2 +intergenic ISOC1(dist=239638),MIR4460(dist=43398) chr5 128689357 128689357 G A het . 2 +intergenic ISOC1(dist=241396),MIR4460(dist=41640) chr5 128691115 128691115 C T het . 2 +intergenic ISOC1(dist=241426),MIR4460(dist=41610) chr5 128691145 128691145 T A het . 2 +intergenic ISOC1(dist=280145),MIR4460(dist=2891) chr5 128729864 128729864 G T het . 2 +intronic ADAMTS19 chr5 128979080 128979080 G A het . 2 +intronic ADAMTS19 chr5 129010633 129010633 C G het . 1 +intergenic MINAR2(dist=78686),CHSY3(dist=61081) chr5 129179442 129179442 C A het . 2 +intergenic MINAR2(dist=95087),CHSY3(dist=44680) chr5 129195843 129195843 G C het . 2 +intronic CHSY3 chr5 129293065 129293065 - TA het . 2 +intronic CHSY3 chr5 129505382 129505382 - A het . 2 +intronic CHSY3 chr5 129508010 129508018 TTTCTTTTC - het . 2 +intergenic CHSY3(dist=6957),HINT1(dist=965692) chr5 129529284 129529284 C T het . 2 +intergenic CHSY3(dist=6970),HINT1(dist=965679) chr5 129529297 129529297 - AC het . 2 +intergenic CHSY3(dist=616233),HINT1(dist=356416) chr5 130138560 130138560 C A het . 3 +intergenic CHSY3(dist=645332),HINT1(dist=327317) chr5 130167659 130167659 A G het . 2 +intergenic CHSY3(dist=807759),HINT1(dist=164890) chr5 130330086 130330086 G T het . 31 +intergenic CHSY3(dist=808366),HINT1(dist=164283) chr5 130330693 130330693 A C het . 20 +intergenic CHSY3(dist=895203),HINT1(dist=77446) chr5 130417530 130417530 T C het . 1 +intergenic CHSY3(dist=963602),HINT1(dist=9047) chr5 130485929 130485929 C T het . 1 +intergenic LYRM7(dist=9224),CDC42SE2(dist=49359) chr5 130550343 130550343 A G het . 2 +intronic CDC42SE2 chr5 130677591 130677591 T A het . 1 +intronic CDC42SE2 chr5 130677972 130677973 AA - het . 3 +intronic RAPGEF6 chr5 130803484 130803484 G C het . 2 +intronic RAPGEF6 chr5 130805475 130805475 C T het . 13 +intronic RAPGEF6 chr5 130808119 130808119 A G het . 14 +intronic FNIP1 chr5 131017356 131017356 - A het . 2 +intronic MEIKIN chr5 131178252 131178252 C T het . 2 +intronic ACSL6 chr5 131312238 131312238 A - het . 12 +intronic ACSL6 chr5 131322638 131322638 G A het . 12 +intergenic ACSL6(dist=6598),IL3(dist=41988) chr5 131354359 131354359 A T het . 2 +intergenic CSF2(dist=74421),P4HA2-AS1(dist=34285) chr5 131486284 131486284 A G het . 5 +intergenic CSF2(dist=74429),P4HA2-AS1(dist=34277) chr5 131486292 131486292 A - het . 5 +intergenic P4HA2(dist=8510),PDLIM4(dist=21285) chr5 131572066 131572066 - T het . 3 +exonic SLC22A4 chr5 131647939 131647939 C A het . 25 +ncRNA_intronic MIR3936HG chr5 131667736 131667736 A G het . 7 +ncRNA_intronic MIR3936HG chr5 131671819 131671819 C A het . 18 +intronic SLC22A5 chr5 131726248 131726248 C A het . 14 +exonic SLC22A5 chr5 131729483 131729483 C A het . 25 +downstream C5orf56(dist=24) chr5 131811760 131811760 A - het . 3 +downstream C5orf56(dist=41) chr5 131811777 131811777 A C het . 3 +intronic IRF1 chr5 131819977 131819977 - CCTGCCCCCTGGT het . 2 +ncRNA_intronic TH2LCRR chr5 131985515 131985515 A - het . 2 +exonic IL13 chr5 131995964 131995964 A G het . 26 +exonic IL4 chr5 132018241 132018241 A C het . 35 +intronic KIF3A chr5 132066167 132066167 A - het . 2 +intronic CCNI2 chr5 132084973 132084973 C A het . 14 +intergenic SEPT8(dist=12867),SOWAHA(dist=22588) chr5 132126428 132126428 T G het . 5 +exonic GDF9 chr5 132197727 132197727 C A het . 28 +intronic AFF4 chr5 132231439 132231439 T C het . 2 +intronic AFF4 chr5 132234183 132234183 T - het . 3 +exonic HSPA4 chr5 132400716 132400716 C A het . 25 +intronic HSPA4 chr5 132409042 132409042 T - het . 8 +exonic HSPA4 chr5 132432868 132432868 C A het . 26 +intergenic HSPA4(dist=34287),FSTL4(dist=57156) chr5 132474996 132474996 G T het . 3 +intronic FSTL4 chr5 132631558 132631558 A C het . 1 +intronic FSTL4 chr5 132708238 132708238 T A het . 1 +intronic FSTL4 chr5 132715755 132715755 A - het . 2 +intronic FSTL4 chr5 132902773 132902773 C A het . 21 +intergenic VDAC1(dist=31832),TCF7(dist=77733) chr5 133372656 133372656 A - het . 6 +intergenic VDAC1(dist=79943),TCF7(dist=29622) chr5 133420767 133420767 - TTTTCT het . 2 +intronic PPP2CA chr5 133540456 133540456 G T het . 3 +intronic PPP2CA chr5 133541548 133541548 A G het . 10 +intronic CDKL3 chr5 133705297 133705297 T - het . 2 +intergenic CDKN2AIPNL(dist=11495),LOC102546229(dist=5649) chr5 133759093 133759093 C A het . 17 +intronic JADE2 chr5 133887724 133887724 C A het . 11 +intronic SAR1B chr5 133944044 133944046 TTT - het . 37 +intronic SEC24A chr5 134010215 134010215 A C het . 10 +intronic SEC24A chr5 134015523 134015523 C G het . 10 +intronic SEC24A chr5 134032955 134032955 T - het . 14 +intronic SEC24A chr5 134033777 134033777 G A het . 6 +intronic DDX46 chr5 134102564 134102564 C A het . 15 +intronic DDX46 chr5 134106507 134106509 AAA - het . 11 +intronic DDX46 chr5 134132888 134132888 C A het . 12 +intronic DDX46 chr5 134164285 134164285 T - het . 5 +intronic PCBD2 chr5 134256628 134256628 A T het . 2 +intronic CATSPER3 chr5 134305853 134305854 TT - het . 24 +intronic C5orf66 chr5 134471611 134471611 G T het . 2 +ncRNA_intronic C5orf66-AS2 chr5 134574232 134574232 T G het . 3 +intronic C5orf66 chr5 134592855 134592855 G T het . 3 +intergenic TIFAB(dist=77186),NEUROG1(dist=4697) chr5 134865275 134865275 G T het . 2 +UTR5 SLC25A48(NM_001349336:c.-132T>G,NM_145282:c.-132T>G) chr5 135170405 135170405 T G het . 3 +intronic SLC25A48 chr5 135186075 135186075 A G het . 4 +ncRNA_exonic FBXL21 chr5 135277394 135277394 - T het . 7 +intronic TGFBI chr5 135396669 135396669 T C het . 5 +intronic TGFBI chr5 135397018 135397018 T C het . 3 +intergenic SMAD5(dist=4339),SMIM32(dist=4395) chr5 135522761 135522761 C A het . 13 +intergenic SMAD5(dist=4456),SMIM32(dist=4278) chr5 135522878 135522878 G - het . 18 +intergenic SMAD5(dist=4457),SMIM32(dist=4277) chr5 135522879 135522879 - AATATA het . 18 +intronic TRPC7 chr5 135561133 135561133 C T het . 7 +exonic TRPC7 chr5 135587547 135587547 C T het . 13 +intronic TRPC7 chr5 135666400 135666400 G A het . 2 +intergenic TRPC7(dist=256879),SPOCK1(dist=352944) chr5 135958043 135958043 A T het . 2 +intergenic TRPC7(dist=289678),SPOCK1(dist=320145) chr5 135990842 135990842 G T het . 1 +intergenic TRPC7(dist=303388),SPOCK1(dist=306435) chr5 136004552 136004552 A G het . 2 +intergenic TRPC7(dist=333994),SPOCK1(dist=275829) chr5 136035158 136035158 G A het . 3 +intergenic TRPC7(dist=345791),SPOCK1(dist=264032) chr5 136046955 136046955 - A het . 2 +intergenic TRPC7(dist=367247),SPOCK1(dist=242576) chr5 136068411 136068411 C A het . 2 +intergenic TRPC7(dist=367253),SPOCK1(dist=242570) chr5 136068417 136068417 C A het . 2 +intergenic TRPC7(dist=586114),SPOCK1(dist=23709) chr5 136287278 136287278 T C het . 1 +intergenic TRPC7(dist=589040),SPOCK1(dist=20783) chr5 136290204 136290204 C T het . 2 +UTR3 SPOCK1(NM_004598:c.*210_*211insT) chr5 136314132 136314132 - A het . 3 +intronic SPOCK1 chr5 136448486 136448486 A G het . 3 +intronic SPOCK1 chr5 136770132 136770132 T C het . 4 +exonic SPOCK1 chr5 136834138 136834138 T C het . 27 +intronic KLHL3 chr5 136979044 136979045 AA - het . 2 +intronic KLHL3 chr5 136986581 136986584 AAAG - het . 3 +intronic KLHL3 chr5 137055988 137055988 T G het . 4 +intronic KLHL3 chr5 137056006 137056006 A C het . 6 +intronic MYOT chr5 137222826 137222826 C A het . 32 +intronic PKD2L2 chr5 137266354 137266356 AAA - het . 5 +intronic PKD2L2 chr5 137266446 137266446 A T het . 3 +intronic FAM13B,PKD2L2 chr5 137277938 137277938 T G het . 4 +intronic FAM13B chr5 137282032 137282032 A - het . 21 +intronic FAM13B chr5 137299765 137299765 T A het . 2 +intronic FAM13B chr5 137318902 137318902 A C het . 3 +intronic FAM13B chr5 137320425 137320425 G A het . 2 +intronic FAM13B chr5 137354852 137354852 A - het . 17 +intergenic LOC100130172(dist=27876),WNT8A(dist=17083) chr5 137402498 137402498 T A het . 2 +intergenic LOC100130172(dist=27877),WNT8A(dist=17082) chr5 137402499 137402499 - T het . 2 +intergenic LOC100130172(dist=35264),WNT8A(dist=9695) chr5 137409886 137409886 T C het . 3 +exonic WNT8A chr5 137426582 137426582 C A het . 22 +intergenic WNT8A(dist=12784),NME5(dist=10847) chr5 137440014 137440014 T G het . 2 +intergenic WNT8A(dist=14426),NME5(dist=9205) chr5 137441656 137441656 - A het . 2 +intronic BRD8 chr5 137507105 137507106 AA - het . 14 +intronic CDC25C chr5 137622780 137622780 A C het . 4 +intronic CDC25C chr5 137638389 137638389 A - het . 2 +intronic KDM3B chr5 137739756 137739756 T G het . 2 +exonic EGR1 chr5 137801633 137801635 CAG - het . 15 +intergenic HSPA9(dist=31812),LOC105379194(dist=136989) chr5 137943130 137943130 G A het . 2 +intergenic HSPA9(dist=41840),LOC105379194(dist=126961) chr5 137953158 137953158 T - het . 2 +intergenic HSPA9(dist=52385),LOC105379194(dist=116416) chr5 137963703 137963703 T C het . 1 +intergenic HSPA9(dist=52400),LOC105379194(dist=116401) chr5 137963718 137963718 G A het . 1 +intronic CTNNA1 chr5 138118794 138118794 C A het . 14 +intronic CTNNA1 chr5 138169563 138169563 G A het . 3 +intronic CTNNA1 chr5 138188839 138188839 T - het . 1 +intronic CTNNA1 chr5 138188855 138188855 C T het . 2 +intronic CTNNA1 chr5 138194286 138194286 - TTC het . 2 +intronic CTNNA1 chr5 138216626 138216626 A - het . 4 +intronic CTNNA1 chr5 138243098 138243098 G A het . 2 +intronic CTNNA1 chr5 138253340 138253340 C A het . 6 +intronic CTNNA1 chr5 138265897 138265897 G A het . 2 +intronic SIL1 chr5 138362283 138362283 C T het . 8 +intronic SIL1 chr5 138420485 138420485 T A het . 2 +intronic SIL1 chr5 138440801 138440801 T C het . 2 +intergenic SIL1(dist=22287),SNHG4(dist=53089) chr5 138556352 138556352 T - het . 2 +intergenic SIL1(dist=42735),SNHG4(dist=32641) chr5 138576800 138576800 C A het . 1 +intergenic SIL1(dist=58628),SNHG4(dist=16748) chr5 138592693 138592693 - ATCATC het . 9 +ncRNA_intronic SNHG4 chr5 138613937 138613937 T C het . 8 +UTR5 MATR3(NM_199189:c.-43T>A,NM_001194954:c.-43T>A,NM_018834:c.-43T>A,NM_001194955:c.-43T>A) chr5 138643062 138643062 T A het . 10 +exonic MATR3 chr5 138654637 138654637 C A het . 36 +exonic MATR3 chr5 138658343 138658343 C A het . 41 +intronic PAIP2 chr5 138689408 138689408 T G het . 1 +intronic PAIP2 chr5 138689412 138689412 - T het . 2 +exonic PROB1 chr5 138729335 138729335 C A het . 19 +intronic SPATA24 chr5 138735123 138735123 G A het . 2 +intronic SPATA24 chr5 138739582 138739582 A C het . 15 +intronic DNAJC18 chr5 138763915 138763915 A G het . 4 +intergenic TMEM173(dist=73447),UBE2D2(dist=4929) chr5 138935822 138935822 A - het . 6 +intronic UBE2D2 chr5 138967840 138967840 T G het . 4 +intronic UBE2D2 chr5 139002761 139002761 A - het . 3 +intergenic CXXC5(dist=42460),PSD2-AS1(dist=15002) chr5 139105930 139105930 T C het . 2 +intergenic CXXC5(dist=45309),PSD2-AS1(dist=12153) chr5 139108779 139108779 G C het . 3 +intronic PSD2 chr5 139175624 139175625 CG GC het . 2 +intronic PSD2 chr5 139182407 139182407 C T het . 3 +intronic PSD2 chr5 139215386 139215386 A C het . 8 +intronic PSD2 chr5 139216901 139216901 - G het . 2 +intronic NRG2 chr5 139262117 139262117 A G het . 2 +intronic NRG2 chr5 139372404 139372404 G T het . 4 +exonic NRG2 chr5 139422559 139422564 CCTCTC - het . 31 +intergenic NRG2(dist=16737),MALINC1(dist=42882) chr5 139439621 139439625 TTTTC - het . 2 +intronic HBEGF chr5 139720211 139720211 C A het . 5 +intronic HBEGF chr5 139720239 139720239 G A het . 6 +intronic HBEGF chr5 139725816 139725816 A C het . 17 +UTR5 SLC4A9(NM_001258426:c.-3C>A,NM_001258428:c.-3C>A,NM_001258427:c.-3C>A,NM_031467:c.-3C>A) chr5 139739819 139739819 C A het . 16 +exonic SRA1 chr5 139931628 139931628 - GT het . 24 +exonic SRA1 chr5 139931629 139931629 - G het . 24 +intronic SRA1 chr5 139931777 139931778 GG - het . 3 +intronic SRA1 chr5 139931779 139931779 T A het . 3 +exonic SRA1 chr5 139936760 139936760 G T het . 9 +intronic SLC35A4 chr5 139944826 139944826 T C het . 4 +intronic TMCO6 chr5 140021858 140021858 A T het . 3 +intronic TMCO6 chr5 140022436 140022436 A G het . 6 +intronic WDR55 chr5 140048845 140048845 C A het . 6 +exonic DND1 chr5 140052918 140052918 C T het . 39 +exonic PCDHA5 chr5 140203117 140203117 C A het . 37 +exonic PCDHA8 chr5 140222450 140222450 G T het . 24 +exonic PCDHA10 chr5 140236014 140236014 C T het . 24 +intronic PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 chr5 140242565 140242565 C A het . 53 +intronic PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1 chr5 140332115 140332115 A C het . 2 +ncRNA_intronic LOC101926905 chr5 140453111 140453111 G A het . 2 +exonic PCDHB4 chr5 140502177 140502177 G A het . 27 +exonic PCDHB4 chr5 140502190 140502190 C A het . 30 +exonic PCDHB4 chr5 140502199 140502199 T G het . 31 +exonic PCDHB5 chr5 140516618 140516618 C A het . 48 +exonic PCDHB5 chr5 140517174 140517174 T C het . 3 +ncRNA_exonic PCDHB17P chr5 140537692 140537692 C T het . 19 +UTR3 PCDHB16(NM_020957:c.*129C>T) chr5 140564594 140564594 C T het . 3 +exonic PCDHB9 chr5 140567322 140567322 G A het . 32 +exonic PCDHB9 chr5 140568034 140568034 - A het . 20 +exonic PCDHB10 chr5 140574155 140574155 C T het . 12 +exonic PCDHB13 chr5 140594220 140594220 C T het . 11 +ncRNA_exonic PCDHB18P chr5 140615861 140615861 G A het . 51 +exonic SLC25A2 chr5 140682922 140682922 G A het . 20 +exonic PCDHGB2 chr5 140741761 140741761 A G het . 25 +exonic PCDHGB5 chr5 140778297 140778297 C T het . 17 +exonic PCDHGB5 chr5 140779656 140779656 C T het . 12 +exonic PCDHGA10 chr5 140794930 140794930 C T het . 29 +exonic PCDHGC3 chr5 140856626 140856626 A G het . 18 +exonic PCDHGC4 chr5 140866185 140866185 C A het . 33 +splicing DIAPH1(NM_005219:exon24:c.3149-1G>T,NM_001079812:exon23:c.3122-1G>T,NM_001314007:exon24:c.3149-1G>T) chr5 140907265 140907265 C A het . 14 +intronic DIAPH1 chr5 140908611 140908611 G C het . 9 +intronic DIAPH1 chr5 140921252 140921252 A - het . 4 +exonic DIAPH1 chr5 140953564 140953575 GGAGGAGGAGGA - het . 16 +intronic DIAPH1 chr5 140958781 140958781 A G het . 37 +intronic HDAC3 chr5 141005552 141005552 T C het . 8 +intronic RELL2 chr5 141018480 141018480 A C het . 6 +intronic RELL2 chr5 141018487 141018487 C A het . 7 +intronic FCHSD1 chr5 141022113 141022115 AAG - het . 4 +intergenic ARAP3(dist=110128),PCDH1(dist=60748) chr5 141171928 141171928 C G het . 2 +intergenic ARAP3(dist=110424),PCDH1(dist=60452) chr5 141172224 141172224 C T het . 3 +intergenic ARAP3(dist=138998),PCDH1(dist=31877) chr5 141200798 141200799 AA - het . 2 +intergenic ARAP3(dist=140093),PCDH1(dist=30783) chr5 141201893 141201893 A C het . 1 +intronic PCDH1 chr5 141235917 141235936 GGGAGGTTAGACAAGGGCCC - het . 2 +intronic PCDH1 chr5 141246646 141246646 T C het . 1 +upstream LOC729080(dist=14) chr5 141276274 141276274 T G het . 3 +exonic PCDH12 chr5 141324955 141324955 - CTGCTGCTG het . 9 +exonic PCDH12 chr5 141334570 141334570 C A het . 16 +exonic PCDH12 chr5 141334607 141334607 C A het . 25 +intronic RNF14 chr5 141364511 141364511 A G het . 8 +intergenic RNF14(dist=6169),GNPDA1(dist=4209) chr5 141376025 141376025 C G het . 4 +intergenic GNPDA1(dist=6684),NDFIP1(dist=89020) chr5 141399304 141399304 - TTTC het . 2 +intergenic GNPDA1(dist=9035),NDFIP1(dist=86669) chr5 141401655 141401655 A G het . 1 +intergenic GNPDA1(dist=23857),NDFIP1(dist=71847) chr5 141416477 141416477 G C het . 39 +intergenic GNPDA1(dist=86445),NDFIP1(dist=9259) chr5 141479065 141479065 A C het . 1 +intergenic NDFIP1(dist=70598),SPRY4(dist=85386) chr5 141604606 141604606 T G het . 2 +intergenic NDFIP1(dist=120697),SPRY4(dist=35287) chr5 141654705 141654705 A G het . 1 +intronic FGF1 chr5 142034485 142034485 G A het . 3 +intronic FGF1 chr5 142060129 142060130 AA - het . 2 +intronic ARHGAP26 chr5 142248773 142248773 C T het . 13 +intronic ARHGAP26 chr5 142392746 142392746 T C het . 5 +intronic ARHGAP26 chr5 142421288 142421288 A - het . 5 +intronic ARHGAP26 chr5 142473175 142473175 A G het . 2 +intronic ARHGAP26 chr5 142474246 142474246 G A het . 2 +intronic ARHGAP26 chr5 142480616 142480616 T C het . 3 +intronic ARHGAP26 chr5 142494877 142494877 G A het . 2 +intronic ARHGAP26 chr5 142494924 142494927 GAAA - het . 3 +intronic ARHGAP26 chr5 142540017 142540017 C T het . 1 +intronic NR3C1 chr5 142662343 142662343 T - het . 16 +intronic NR3C1 chr5 142689824 142689824 C G het . 29 +intronic NR3C1 chr5 142738466 142738466 A - het . 2 +intergenic NR3C1(dist=28889),MIR5197(dist=215456) chr5 142843966 142843969 TTTC - het . 1 +intergenic NR3C1(dist=91299),MIR5197(dist=153049) chr5 142906376 142906376 - AAACAAAAC het . 3 +intergenic NR3C1(dist=203144),MIR5197(dist=41204) chr5 143018221 143018221 T C het . 5 +upstream MIR5197(dist=349) chr5 143059076 143059076 T C het . 3 +intergenic MIR5197(dist=42272),HMHB1(dist=89918) chr5 143101808 143101808 G A het . 1 +intergenic MIR5197(dist=72137),HMHB1(dist=60053) chr5 143131673 143131673 C T het . 3 +intergenic MIR5197(dist=75804),HMHB1(dist=56386) chr5 143135340 143135340 G T het . 2 +intergenic MIR5197(dist=116706),HMHB1(dist=15484) chr5 143176242 143176242 T G het . 1 +intergenic HMHB1(dist=162025),YIPF5(dist=175414) chr5 143362309 143362309 A G het . 3 +intergenic HMHB1(dist=263652),YIPF5(dist=73787) chr5 143463936 143463936 C T het . 6 +UTR3 YIPF5(NM_001271732:c.*46G>T,NM_030799:c.*46G>T,NM_001024947:c.*46G>T) chr5 143539915 143539915 C A het . 10 +intronic KCTD16 chr5 143569054 143569054 A G het . 2 +exonic KCTD16 chr5 143586507 143586507 G A het . 23 +intronic KCTD16 chr5 143767699 143767699 G A het . 2 +exonic KCTD16 chr5 143853438 143853438 C A het . 36 +intergenic KCTD16(dist=89005),PRELID2(dist=1189958) chr5 143945949 143945949 A G het . 2 +intergenic KCTD16(dist=170855),PRELID2(dist=1108108) chr5 144027799 144027799 A - het . 2 +intergenic KCTD16(dist=170857),PRELID2(dist=1108106) chr5 144027801 144027801 G - het . 2 +intergenic KCTD16(dist=170859),PRELID2(dist=1108104) chr5 144027803 144027803 C T het . 2 +intergenic KCTD16(dist=186830),PRELID2(dist=1092133) chr5 144043774 144043774 C T het . 2 +intergenic KCTD16(dist=266019),PRELID2(dist=1012944) chr5 144122963 144122963 A C het . 2 +intergenic KCTD16(dist=285265),PRELID2(dist=993698) chr5 144142209 144142209 A G het . 2 +intergenic KCTD16(dist=342446),PRELID2(dist=936517) chr5 144199390 144199390 A G het . 1 +intergenic KCTD16(dist=466415),PRELID2(dist=812548) chr5 144323359 144323359 G A het . 2 +intergenic KCTD16(dist=592615),PRELID2(dist=686348) chr5 144449559 144449559 G A het . 2 +intergenic KCTD16(dist=661128),PRELID2(dist=617835) chr5 144518072 144518072 T A het . 2 +intergenic KCTD16(dist=683202),PRELID2(dist=595761) chr5 144540146 144540146 T - het . 2 +intergenic KCTD16(dist=739103),PRELID2(dist=539858) chr5 144596047 144596049 AAG - het . 2 +intergenic KCTD16(dist=751306),PRELID2(dist=527657) chr5 144608250 144608250 - A het . 5 +intergenic KCTD16(dist=752083),PRELID2(dist=526880) chr5 144609027 144609027 C A het . 14 +intergenic KCTD16(dist=939642),PRELID2(dist=339321) chr5 144796586 144796586 A C het . 3 +intergenic KCTD16(dist=999280),PRELID2(dist=279683) chr5 144856224 144856224 T A het . 1 +intronic PRELID2 chr5 145198805 145198805 T C het . 9 +intronic PRELID2 chr5 145199682 145199686 TTTTG - het . 13 +intronic PRELID2 chr5 145199683 145199686 TTTG - het . 15 +intronic PRELID2 chr5 145199687 145199691 TTTTT - het . 11 +intronic PLAC8L1 chr5 145483596 145483596 C A het . 4 +intronic LARS chr5 145508457 145508457 T C het . 10 +intronic LARS chr5 145508471 145508471 T C het . 11 +intronic LARS chr5 145512368 145512368 A - het . 6 +intronic LARS chr5 145534415 145534415 G C het . 4 +intronic LARS chr5 145540213 145540213 - ATTT het . 6 +intronic LARS chr5 145540219 145540219 C A het . 6 +intronic LARS chr5 145543820 145543820 - AAAAAAGCACATAC het . 18 +exonic LARS chr5 145543968 145543968 A T het . 44 +exonic LARS chr5 145543972 145543972 G A het . 40 +intronic LARS chr5 145546417 145546417 T A het . 3 +intronic LARS chr5 145560937 145560937 - A het . 3 +intergenic LARS(dist=6403),RBM27(dist=14410) chr5 145568753 145568753 - G het . 6 +intergenic LARS(dist=6404),RBM27(dist=14409) chr5 145568754 145568754 T A het . 6 +intronic RBM27 chr5 145585930 145585930 T - het . 3 +intronic RBM27 chr5 145640215 145640215 A G het . 5 +intronic RBM27 chr5 145647188 145647188 T - het . 13 +intergenic RBM27(dist=24510),POU4F3(dist=25290) chr5 145693294 145693297 AAGA - het . 4 +exonic POU4F3 chr5 145719806 145719806 C A het . 36 +intergenic POU4F3(dist=16958),TCERG1(dist=89832) chr5 145737041 145737041 T C het . 2 +intergenic POU4F3(dist=66372),TCERG1(dist=40418) chr5 145786455 145786455 T C het . 1 +intergenic POU4F3(dist=100329),TCERG1(dist=6461) chr5 145820412 145820412 C T het . 1 +intronic TCERG1 chr5 145872667 145872667 A T het . 9 +exonic GPR151 chr5 145895443 145895443 C A het . 35 +intronic PPP2R2B chr5 146086912 146086912 G T het . 13 +intronic PPP2R2B chr5 146351658 146351658 C A het . 1 +intronic PPP2R2B chr5 146363927 146363927 G C het . 4 +intronic PPP2R2B chr5 146420372 146420372 A - het . 15 +intronic PPP2R2B chr5 146434048 146434048 A - het . 5 +intronic PPP2R2B chr5 146434060 146434060 C T het . 6 +intronic STK32A chr5 146662190 146662190 G C het . 3 +intronic STK32A chr5 146717930 146717930 C A het . 4 +intergenic DPYSL3(dist=7479),JAKMIP2-AS1(dist=42459) chr5 146897098 146897098 T A het . 1 +ncRNA_intronic JAKMIP2-AS1 chr5 146949107 146949107 C G het . 3 +ncRNA_intronic JAKMIP2-AS1 chr5 146949131 146949131 T C het . 3 +ncRNA_intronic JAKMIP2-AS1 chr5 146962917 146962917 T C het . 3 +ncRNA_intronic JAKMIP2-AS1 chr5 146975516 146975516 A G het . 3 +ncRNA_intronic JAKMIP2-AS1 chr5 146975526 146975526 C T het . 3 +ncRNA_intronic JAKMIP2-AS1 chr5 146975549 146975549 C T het . 3 +ncRNA_intronic JAKMIP2-AS1 chr5 146991452 146991452 T C het . 9 +ncRNA_intronic JAKMIP2-AS1 chr5 146993851 146993851 A G het . 1 +ncRNA_intronic JAKMIP2-AS1 chr5 147001437 147001437 - T het . 3 +intronic SPINK5 chr5 147445118 147445118 A G het . 5 +intronic SPINK5 chr5 147456766 147456766 C - het . 3 +intronic SPINK5 chr5 147468234 147468234 C G het . 20 +intronic SPINK5 chr5 147475488 147475488 A G het . 38 +intronic SPINK5 chr5 147475513 147475513 - T het . 28 +intronic SPINK5 chr5 147477351 147477351 - TTTAA het . 14 +intronic SPINK5 chr5 147478981 147478981 C A het . 11 +intronic SPINK5 chr5 147479608 147479608 G A het . 2 +intronic SPINK5 chr5 147484466 147484466 A - het . 23 +intronic SPINK5 chr5 147488410 147488410 T C het . 35 +intronic SPINK5 chr5 147493780 147493780 T G het . 31 +intronic SPINK5 chr5 147493791 147493791 C T het . 31 +intronic SPINK5 chr5 147493803 147493803 - A het . 28 +intronic SPINK5 chr5 147493831 147493831 - T het . 14 +intronic SPINK5 chr5 147493833 147493833 C T het . 14 +intronic SPINK5 chr5 147493871 147493871 G A het . 21 +intergenic SPINK5(dist=1138),SPINK14(dist=30046) chr5 147518063 147518063 G A het . 8 +intergenic SPINK5(dist=1230),SPINK14(dist=29954) chr5 147518155 147518155 T C het . 7 +intronic SPINK14 chr5 147549507 147549507 - AT het . 5 +UTR3 SPINK14(NM_001001325:c.*37_*43delTTTTTCC) chr5 147554998 147555004 TTTTTCC - het . 18 +UTR3 SPINK14(NM_001001325:c.*68C>T) chr5 147555029 147555029 C T het . 14 +intergenic SPINK14(dist=6054),SPINK6(dist=21121) chr5 147561236 147561236 T C het . 2 +intronic SPINK6 chr5 147585430 147585430 A - het . 14 +intronic MARCOL chr5 147620354 147620354 A T het . 2 +intronic MARCOL chr5 147621804 147621804 A T het . 2 +intronic MARCOL chr5 147621809 147621809 G A het . 2 +intergenic MARCOL(dist=8526),LOC102546294(dist=16205) chr5 147631665 147631665 T - het . 2 +intronic FBXO38 chr5 147785803 147785804 TT - het . 7 +intronic FBXO38 chr5 147802355 147802355 A G het . 2 +intergenic HTR4(dist=34018),ADRB2(dist=138048) chr5 148068108 148068108 G A het . 3 +intergenic ADRB2(dist=8503),SH3TC2(dist=145013) chr5 148216700 148216700 C T het . 2 +exonic SH3TC2 chr5 148407438 148407438 C A het . 33 +exonic SH3TC2 chr5 148407675 148407675 C A het . 30 +exonic SH3TC2 chr5 148407708 148407708 A C het . 33 +ncRNA_intronic SH3TC2-DT chr5 148477702 148477702 C A het . 2 +intergenic SH3TC2-DT(dist=24985),ABLIM3(dist=6675) chr5 148514335 148514335 A G het . 1 +intronic ABLIM3 chr5 148593545 148593545 - CA het . 2 +intronic ABLIM3 chr5 148596694 148596694 G - het . 4 +intronic ABLIM3 chr5 148630191 148630191 C A het . 1 +intronic AFAP1L1 chr5 148679301 148679301 C G het . 5 +intronic GRPEL2 chr5 148725225 148725225 - C het . 9 +downstream PCYOX1L(dist=556) chr5 148749777 148749777 G A het . 3 +intergenic CARMN(dist=14516),CSNK1A1(dist=48542) chr5 148826915 148826915 A C het . 2 +intergenic CARMN(dist=27712),CSNK1A1(dist=35346) chr5 148840111 148840111 - T het . 3 +intergenic CARMN(dist=50865),CSNK1A1(dist=12193) chr5 148863264 148863264 A G het . 2 +intronic CSNK1A1 chr5 148876460 148876460 C A het . 29 +intronic PPARGC1B chr5 149159174 149159174 G A het . 2 +intronic PDE6A chr5 149275070 149275070 - TGT het . 2 +intergenic PDE6A(dist=7620),SLC26A2(dist=8324) chr5 149331976 149331976 T C het . 3 +intronic TIGD6 chr5 149377119 149377119 C A het . 2 +intronic CSF1R chr5 149437190 149437190 C G het . 2 +intronic CSF1R chr5 149456771 149456772 CT AA het . 22 +intronic PDGFRB chr5 149505306 149505306 G A het . 2 +intergenic PDGFRB(dist=6404),CDX1(dist=4518) chr5 149541826 149541826 T C het . 3 +intronic SLC6A7 chr5 149584341 149584341 T C het . 1 +UTR3 CAMK2A(NM_015981:c.*50_*49delGT,NM_171825:c.*50_*49delGT,NM_001363989:c.*50_*49delGT,NM_001363990:c.*50_*49delGT) chr5 149602223 149602224 AC - het . 41 +intronic TCOF1 chr5 149746096 149746099 CTTT - het . 2 +intronic TCOF1 chr5 149754095 149754095 C A het . 9 +intronic NDST1 chr5 149914401 149914401 T C het . 14 +exonic SYNPO chr5 150028104 150028104 C A het . 30 +intronic MYOZ3 chr5 150051850 150051850 T G het . 8 +intronic ZNF300 chr5 150282675 150282675 T - het . 21 +intergenic ZNF300P1(dist=16261),GPX3(dist=57566) chr5 150342407 150342407 T - het . 2 +downstream GPX3,TNIP1(dist=156) chr5 150409348 150409348 T C het . 2 +UTR3 TNIP1(NM_001252390:c.*139C>T,NM_001252386:c.*139C>T,NM_001252393:c.*68C>T,NM_006058:c.*139C>T,NM_001252385:c.*207C>T,NM_001252392:c.*68C>T,NM_001252391:c.*139C>T,NM_001258456:c.*90C>T,NM_001258455:c.*139C>T,NM_001258454:c.*139C>T,NM_001364486:c.*68C>T,NM_001364487:c.*139C>T) chr5 150410135 150410135 G A het . 8 +intronic ANXA6 chr5 150515249 150515249 C T het . 1 +intronic ANXA6 chr5 150518358 150518359 AG GA het . 20 +intronic ANXA6 chr5 150518392 150518392 - GAA het . 15 +intergenic ANXA6(dist=12324),CCDC69(dist=10846) chr5 150549767 150549767 C - het . 3 +intronic CCDC69 chr5 150564031 150564031 C A het . 31 +intergenic CCDC69(dist=11842),GM2A(dist=17117) chr5 150615496 150615496 - T het . 2 +UTR5 GM2A(NM_001167607:c.-102A>G,NM_000405:c.-102A>G) chr5 150632676 150632676 A G het . 5 +intronic GM2A chr5 150641551 150641551 G C het . 2 +intronic SLC36A3 chr5 150663565 150663565 A C het . 4 +intronic SLC36A1 chr5 150842446 150842446 T G het . 2 +intronic FAT2 chr5 150889805 150889805 A T het . 6 +intronic FAT2 chr5 150921805 150921805 G A het . 2 +exonic FAT2 chr5 150922692 150922692 C A het . 20 +exonic FAT2 chr5 150923255 150923255 C A het . 19 +exonic FAT2 chr5 150947162 150947162 A G het . 15 +intergenic FAT2(dist=2348),SPARC(dist=89804) chr5 150950853 150950853 C A het . 3 +intergenic FAT2(dist=19331),SPARC(dist=72821) chr5 150967836 150967836 C T het . 2 +intronic SPARC chr5 151054131 151054131 A G het . 8 +intronic SPARC chr5 151054137 151054137 A C het . 9 +upstream ATOX1(dist=1) chr5 151138211 151138211 A G het . 3 +intergenic ATOX1(dist=7530),LOC100652758(dist=3614) chr5 151145740 151145740 C T het . 9 +intronic G3BP1 chr5 151167380 151167380 A T het . 10 +intronic G3BP1 chr5 151167387 151167387 - C het . 11 +intronic G3BP1 chr5 151167390 151167423 AATATTTTCAATTCATAAAATAAAATTTATGAAT - het . 12 +intronic G3BP1 chr5 151169792 151169793 AA - het . 10 +intronic G3BP1 chr5 151180450 151180451 GA - het . 7 +intronic G3BP1 chr5 151180453 151180453 T A het . 7 +ncRNA_intronic LINC01933 chr5 151418051 151418051 C T het . 3 +ncRNA_intronic LINC01933 chr5 151418072 151418072 G A het . 3 +ncRNA_intronic LINC01933 chr5 151472918 151472918 A G het . 1 +exonic NMUR2 chr5 151771817 151771817 C T het . 21 +exonic NMUR2 chr5 151771838 151771838 T C het . 32 +exonic NMUR2 chr5 151771852 151771852 G A het . 35 +intronic NMUR2 chr5 151776566 151776566 G A het . 2 +intergenic NMUR2(dist=115000),LINC01470(dist=98684) chr5 151899840 151899841 TT - het . 2 +ncRNA_intronic LINC01470 chr5 152078514 152078514 T C het . 2 +ncRNA_intronic LINC01470 chr5 152089623 152089625 AAA - het . 3 +ncRNA_intronic LINC01470 chr5 152184135 152184135 - AT het . 2 +ncRNA_intronic LINC01470 chr5 152230682 152230682 T C het . 4 +ncRNA_intronic LINC01470 chr5 152263378 152263378 T A het . 2 +intergenic LINC01470(dist=260413),GRIA1(dist=257762) chr5 152612322 152612322 C A het . 2 +intergenic LINC01470(dist=323113),GRIA1(dist=195062) chr5 152675022 152675022 C T het . 2 +intergenic LINC01470(dist=323119),GRIA1(dist=195056) chr5 152675028 152675028 C A het . 2 +intergenic LINC01470(dist=341382),GRIA1(dist=176793) chr5 152693291 152693291 A G het . 1 +intergenic LINC01470(dist=419874),GRIA1(dist=98301) chr5 152771783 152771783 T C het . 2 +intronic GRIA1 chr5 152929714 152929714 - T het . 2 +intronic GRIA1 chr5 153055356 153055356 T C het . 2 +intronic GRIA1 chr5 153112961 153112961 A C het . 2 +intronic GRIA1 chr5 153136785 153136785 T G het . 2 +intronic GRIA1 chr5 153160890 153160890 G A het . 2 +intronic GRIA1 chr5 153174310 153174310 - A het . 19 +intergenic GRIA1(dist=39001),LINC01861(dist=34554) chr5 153232434 153232434 C T het . 2 +intergenic GRIA1(dist=55518),LINC01861(dist=18037) chr5 153248951 153248951 T C het . 1 +ncRNA_intronic LINC01861 chr5 153277932 153277932 G A het . 1 +intergenic LINC01861(dist=39193),FAM114A2(dist=51951) chr5 153317740 153317740 G A het . 2 +intronic FAM114A2 chr5 153374325 153374325 C A het . 6 +intronic FAM114A2 chr5 153391709 153391709 A G het . 2 +exonic FAM114A2 chr5 153407822 153407822 C A het . 30 +intronic FAM114A2 chr5 153413576 153413576 C A het . 15 +intronic FAM114A2 chr5 153414545 153414545 - A het . 20 +intergenic MFAP3(dist=5729),GALNT10(dist=127552) chr5 153442743 153442743 A - het . 3 +intergenic MFAP3(dist=70798),GALNT10(dist=62483) chr5 153507812 153507812 A - het . 1 +intergenic MFAP3(dist=70822),GALNT10(dist=62459) chr5 153507836 153507836 A G het . 2 +intergenic SAP30L(dist=10835),HAND1(dist=3084) chr5 153851448 153851448 C T het . 2 +intergenic HAND1(dist=10573),MIR3141(dist=107175) chr5 153868397 153868397 C A het . 1 +intergenic MIR3141(dist=17151),MIR1303(dist=72553) chr5 153992783 153992783 T A het . 1 +intergenic MIR3141(dist=30383),MIR1303(dist=59321) chr5 154006015 154006015 - AAAG het . 1 +ncRNA_exonic MIR1303 chr5 154065369 154065369 - T het . 16 +intronic LARP1 chr5 154138405 154138405 A T het . 2 +intronic LARP1 chr5 154171609 154171609 C A het . 8 +intronic LARP1 chr5 154184148 154184148 G A het . 6 +UTR3 LARP1(NM_015315:c.*79A>G) chr5 154193735 154193735 A G het . 2 +intronic FAXDC2 chr5 154210339 154210339 - AGG het . 20 +intronic GEMIN5 chr5 154268703 154268703 T A het . 2 +exonic GEMIN5 chr5 154275824 154275824 G T het . 6 +intronic GEMIN5 chr5 154284856 154284856 C T het . 15 +intronic GEMIN5 chr5 154287016 154287016 - GAAAAAAAA het . 4 +intergenic KIF4B(dist=124427),SGCD(dist=1231648) chr5 154522119 154522119 G A het . 4 +intergenic KIF4B(dist=356152),SGCD(dist=999923) chr5 154753844 154753844 C T het . 2 +intergenic KIF4B(dist=442860),SGCD(dist=913215) chr5 154840552 154840552 T - het . 2 +intergenic KIF4B(dist=473231),SGCD(dist=882844) chr5 154870923 154870923 T - het . 14 +intergenic KIF4B(dist=473653),SGCD(dist=882422) chr5 154871345 154871345 G A het . 14 +intergenic KIF4B(dist=475044),SGCD(dist=881031) chr5 154872736 154872736 C A het . 14 +intergenic KIF4B(dist=541544),SGCD(dist=814531) chr5 154939236 154939236 A C het . 2 +intergenic KIF4B(dist=804358),SGCD(dist=551717) chr5 155202050 155202050 G A het . 3 +intergenic KIF4B(dist=1004928),SGCD(dist=351147) chr5 155402620 155402620 T C het . 4 +intergenic KIF4B(dist=1179682),SGCD(dist=176393) chr5 155577374 155577374 A G het . 3 +intronic SGCD chr5 156070050 156070050 - T het . 3 +intronic SGCD chr5 156100294 156100294 G A het . 1 +intergenic SGCD(dist=69690),PPP1R2B(dist=13009) chr5 156264488 156264488 C T het . 2 +intergenic SGCD(dist=70463),PPP1R2B(dist=12236) chr5 156265261 156265261 - AAAT het . 8 +intronic TIMD4 chr5 156357016 156357016 C T het . 2 +intronic TIMD4 chr5 156375336 156375337 AA - het . 11 +intergenic TIMD4(dist=14321),HAVCR1(dist=51837) chr5 156404587 156404587 C A het . 2 +intergenic TIMD4(dist=14325),HAVCR1(dist=51833) chr5 156404591 156404591 T C het . 2 +intergenic TIMD4(dist=17894),HAVCR1(dist=48261) chr5 156408160 156408163 TCTT - het . 3 +intronic HAVCR1 chr5 156476164 156476164 G A het . 11 +exonic HAVCR1 chr5 156479424 156479424 A C het . 37 +exonic HAVCR1 chr5 156479444 156479446 TTG - het . 49 +intergenic MED7(dist=1536),FAM71B(dist=17887) chr5 156571457 156571457 C T het . 3 +intronic ITK chr5 156640563 156640563 - T het . 27 +intergenic ITK(dist=9830),CYFIP2(dist=1151) chr5 156691939 156691939 - TT het . 4 +intronic CYFIP2 chr5 156766273 156766273 G A het . 5 +intronic ADAM19 chr5 156921859 156921859 C A het . 6 +intronic ADAM19 chr5 156932148 156932148 T A het . 2 +intronic ADAM19 chr5 156990173 156990173 G A het . 1 +intronic SOX30 chr5 157094749 157094749 - ATAC het . 2 +intergenic C5orf52(dist=22863),THG1L(dist=28372) chr5 157130025 157130025 G A het . 4 +intronic THG1L chr5 157164839 157164839 C A het . 13 +downstream THG1L(dist=129) chr5 157168584 157168584 A - het . 2 +intergenic CLINT1(dist=57813),LINC02227(dist=403716) chr5 157343996 157343996 A - het . 6 +intergenic CLINT1(dist=69089),LINC02227(dist=392440) chr5 157355272 157355272 A T het . 3 +intergenic CLINT1(dist=181989),LINC02227(dist=279540) chr5 157468172 157468172 T - het . 3 +intergenic CLINT1(dist=227221),LINC02227(dist=234308) chr5 157513404 157513404 G T het . 2 +intergenic CLINT1(dist=270264),LINC02227(dist=191265) chr5 157556447 157556447 A C het . 2 +intergenic CLINT1(dist=422495),LINC02227(dist=39034) chr5 157708678 157708678 G T het . 9 +intergenic LINC02227(dist=117684),EBF1(dist=168458) chr5 157954465 157954465 T A het . 2 +intronic RNF145 chr5 158614357 158614357 A C het . 3 +UTR5 RNF145(NM_001199382:c.-28delT) chr5 158634513 158634513 A - het . 15 +UTR5 RNF145(NM_001199381:c.-198A>G) chr5 158635102 158635102 T C het . 2 +intergenic UBLCP1(dist=26040),IL12B(dist=2703) chr5 158739088 158739088 T C het . 1 +intronic IL12B chr5 158750013 158750013 T C het . 18 +intergenic LOC285626(dist=56764),LINC01845(dist=28958) chr5 158846606 158846606 C T het . 1 +intergenic LINC01845(dist=114703),LINC01847(dist=195795) chr5 159007987 159007987 - C het . 1 +intergenic LINC01845(dist=274894),LINC01847(dist=35604) chr5 159168178 159168178 G T het . 5 +ncRNA_intronic LINC01847 chr5 159275305 159275305 A - het . 2 +ncRNA_intronic LINC01847 chr5 159275341 159275341 A G het . 2 +intergenic LINC01847(dist=22524),ADRA1B(dist=22825) chr5 159320915 159320915 G C het . 3 +exonic ADRA1B chr5 159344497 159344497 C A het . 11 +intronic ADRA1B chr5 159389870 159389870 C T het . 4 +intronic TTC1 chr5 159477985 159477985 T - het . 10 +intronic TTC1 chr5 159478090 159478090 T - het . 10 +intronic FABP6 chr5 159654826 159654826 C T het . 2 +intronic FABP6 chr5 159660887 159660887 A G het . 2 +intergenic FABP6(dist=3496),CCNJL(dist=9434) chr5 159669225 159669225 C T het . 3 +intergenic CCNJL(dist=26668),C1QTNF2(dist=8495) chr5 159766275 159766280 TATATG - het . 4 +exonic C1QTNF2 chr5 159776455 159776455 C A het . 35 +exonic SLU7 chr5 159831523 159831525 TTC - het . 28 +intronic SLU7 chr5 159835838 159835840 TAT - het . 12 +intronic SLU7 chr5 159835874 159835874 - ATA het . 8 +intronic SLU7 chr5 159839530 159839530 - AAA het . 11 +intronic SLU7 chr5 159839545 159839545 G A het . 10 +exonic PTTG1 chr5 159854778 159854778 G T het . 28 +intergenic MIR3142HG(dist=4733),ATP10B(dist=70961) chr5 159919166 159919166 C A het . 4 +exonic ATP10B chr5 159992648 159992648 C T het . 26 +intronic ATP10B chr5 160003677 160003677 A G het . 2 +intronic ATP10B chr5 160003685 160003685 A G het . 2 +intronic ATP10B chr5 160043108 160043108 - T het . 3 +intronic ATP10B chr5 160043109 160043109 C T het . 3 +intronic ATP10B chr5 160207762 160207762 G T het . 3 +intergenic ATP10B(dist=1121),LINC02159(dist=78446) chr5 160280340 160280340 C T het . 2 +intergenic ATP10B(dist=77036),LINC02159(dist=2531) chr5 160356255 160356255 T C het . 1 +intergenic LINC02159(dist=47294),GABRB2(dist=302509) chr5 160412927 160412927 T C het . 2 +intergenic LINC02159(dist=48255),GABRB2(dist=301548) chr5 160413888 160413888 G A het . 2 +intergenic LINC02159(dist=56750),GABRB2(dist=293053) chr5 160422383 160422383 C T het . 3 +intergenic LINC02159(dist=68410),GABRB2(dist=281393) chr5 160434043 160434043 G A het . 3 +intergenic LINC02159(dist=144135),GABRB2(dist=205668) chr5 160509768 160509768 - TCTTC het . 2 +intergenic LINC02159(dist=270708),GABRB2(dist=79095) chr5 160636341 160636341 G A het . 2 +intergenic LINC02159(dist=280995),GABRB2(dist=68808) chr5 160646628 160646628 T G het . 1 +intergenic LINC02159(dist=332684),GABRB2(dist=17119) chr5 160698317 160698317 A G het . 1 +intronic GABRB2 chr5 160763822 160763822 A - het . 7 +intronic GABRB2 chr5 160825685 160825685 G T het . 4 +intronic GABRB2 chr5 160972146 160972146 A C het . 2 +intergenic GABRB2(dist=95603),GABRA6(dist=41925) chr5 161070733 161070733 G T het . 2 +intergenic GABRA6(dist=12126),GABRA1(dist=132473) chr5 161141724 161141724 G A het . 2 +intergenic GABRA6(dist=12128),GABRA1(dist=132471) chr5 161141726 161141726 - TT het . 2 +intergenic GABRA6(dist=48958),GABRA1(dist=95641) chr5 161178556 161178556 G A het . 39 +intergenic GABRA6(dist=120207),GABRA1(dist=24392) chr5 161249805 161249805 T A het . 2 +intronic GABRA1 chr5 161292723 161292723 A G het . 52 +intronic GABRA1 chr5 161302513 161302513 C A het . 19 +intronic GABRA1 chr5 161309752 161309752 T G het . 25 +intronic GABRA1 chr5 161313741 161313741 C A het . 2 +intronic GABRA1 chr5 161319676 161319676 - AAAC het . 4 +intronic GABRA1 chr5 161322653 161322653 T - het . 24 +UTR5 GABRG2(NM_198904:c.-15_-13del-,NM_198903:c.-15_-13del-,NM_000816:c.-15_-13del-) chr5 161494991 161494993 AAA - het . 37 +intergenic GABRG2(dist=90982),CCNG1(dist=1191050) chr5 161673527 161673527 A G het . 2 +intergenic GABRG2(dist=130169),CCNG1(dist=1151854) chr5 161712714 161712723 CTCTCTTTCT - het . 4 +intergenic GABRG2(dist=130337),CCNG1(dist=1151695) chr5 161712882 161712882 G A het . 5 +intergenic GABRG2(dist=137284),CCNG1(dist=1144748) chr5 161719829 161719829 A T het . 2 +intergenic GABRG2(dist=137292),CCNG1(dist=1144740) chr5 161719837 161719837 A G het . 3 +intergenic GABRG2(dist=171470),CCNG1(dist=1110562) chr5 161754015 161754015 T G het . 3 +intergenic GABRG2(dist=278732),CCNG1(dist=1003300) chr5 161861277 161861277 A G het . 2 +intergenic GABRG2(dist=300233),CCNG1(dist=981797) chr5 161882778 161882780 AAT - het . 2 +intergenic GABRG2(dist=362360),CCNG1(dist=919672) chr5 161944905 161944905 C A het . 4 +intergenic GABRG2(dist=419912),CCNG1(dist=862120) chr5 162002457 162002457 A - het . 2 +intergenic GABRG2(dist=485423),CCNG1(dist=796609) chr5 162067968 162067968 G A het . 1 +intergenic GABRG2(dist=726510),CCNG1(dist=555522) chr5 162309055 162309055 G - het . 2 +intergenic GABRG2(dist=857477),CCNG1(dist=424555) chr5 162440022 162440022 A G het . 1 +intergenic GABRG2(dist=863311),CCNG1(dist=418721) chr5 162445856 162445856 G A het . 3 +intergenic GABRG2(dist=880318),CCNG1(dist=401714) chr5 162462863 162462863 G A het . 2 +intergenic GABRG2(dist=932011),CCNG1(dist=350021) chr5 162514556 162514556 A T het . 2 +intergenic GABRG2(dist=1056467),CCNG1(dist=225565) chr5 162639012 162639012 T G het . 1 +intergenic GABRG2(dist=1076401),CCNG1(dist=205631) chr5 162658946 162658946 C T het . 3 +intergenic GABRG2(dist=1220207),CCNG1(dist=61825) chr5 162802752 162802752 C T het . 2 +intergenic GABRG2(dist=1240392),CCNG1(dist=41640) chr5 162822937 162822937 G C het . 1 +ncRNA_exonic HMMR-AS1 chr5 162909956 162909956 G - het . 13 +ncRNA_intronic HMMR-AS1 chr5 162918091 162918091 A G het . 7 +intergenic MAT2B(dist=281363),LINC02143(dist=647706) chr5 163227722 163227722 A G het . 1 +intergenic MAT2B(dist=360259),LINC02143(dist=568810) chr5 163306618 163306618 A G het . 3 +intergenic MAT2B(dist=408373),LINC02143(dist=520696) chr5 163354732 163354732 G T het . 7 +intergenic MAT2B(dist=833597),LINC02143(dist=95472) chr5 163779956 163779956 C T het . 2 +intergenic MAT2B(dist=841241),LINC02143(dist=87828) chr5 163787600 163787600 T C het . 4 +ncRNA_intronic LINC02143 chr5 163892077 163892077 T C het . 1 +upstream LOC102546299(dist=332) chr5 163896953 163896953 A C het . 1 +intergenic LOC102546299(dist=57991),NONE(dist=NONE) chr5 164027980 164027980 G T het . 3 +intergenic LOC102546299(dist=93850),NONE(dist=NONE) chr5 164063839 164063839 G A het . 2 +intergenic LOC102546299(dist=473886),LINC01947(dist=1888352) chr5 164443875 164443875 C T het . 2 +intergenic LOC102546299(dist=635206),LINC01947(dist=1727032) chr5 164605195 164605195 G A het . 1 +intergenic LOC102546299(dist=899853),LINC01947(dist=1462384) chr5 164869842 164869843 AA - het . 4 +intergenic LOC102546299(dist=984146),LINC01947(dist=1378092) chr5 164954135 164954135 - AAA het . 3 +intergenic LOC102546299(dist=1113968),LINC01947(dist=1248270) chr5 165083957 165083957 T C het . 2 +intergenic LOC102546299(dist=1246256),LINC01947(dist=1115982) chr5 165216245 165216245 T C het . 3 +intergenic LOC102546299(dist=1260290),LINC01947(dist=1101948) chr5 165230279 165230279 T A het . 1 +intergenic LOC102546299(dist=1647253),LINC01947(dist=714985) chr5 165617242 165617242 G T het . 2 +intergenic LOC102546299(dist=1727838),LINC01947(dist=634400) chr5 165697827 165697827 C G het . 2 +intergenic LOC102546299(dist=1731337),LINC01947(dist=630901) chr5 165701326 165701326 T G het . 2 +intergenic LOC102546299(dist=1751420),LINC01947(dist=610818) chr5 165721409 165721409 G A het . 6 +intergenic LOC102546299(dist=1863644),LINC01947(dist=498594) chr5 165833633 165833633 G A het . 2 +intergenic LOC102546299(dist=1874735),LINC01947(dist=487503) chr5 165844724 165844724 G A het . 1 +intergenic LOC102546299(dist=1902524),LINC01947(dist=459714) chr5 165872513 165872513 A C het . 2 +intergenic LOC102546299(dist=1939609),LINC01947(dist=422629) chr5 165909598 165909598 A - het . 2 +intergenic LOC102546299(dist=1976627),LINC01947(dist=385607) chr5 165946616 165946620 TTTTT - het . 2 +intergenic LOC102546299(dist=1982567),LINC01947(dist=379660) chr5 165952556 165952567 TTTTGTTTTTGT - het . 3 +intergenic NONE(dist=NONE),LINC01947(dist=274560) chr5 166057667 166057667 T A het . 2 +intergenic NONE(dist=NONE),LINC01947(dist=269332) chr5 166062895 166062895 C A het . 3 +intergenic NONE(dist=NONE),LINC01947(dist=242161) chr5 166090066 166090066 G C het . 2 +intergenic NONE(dist=NONE),LINC01947(dist=146291) chr5 166185936 166185936 A T het . 2 +intergenic NONE(dist=NONE),LINC01947(dist=139722) chr5 166192501 166192505 AAATA - het . 3 +intergenic NONE(dist=NONE),LINC01947(dist=96839) chr5 166235385 166235388 ATAC - het . 2 +intergenic NONE(dist=NONE),LINC01947(dist=61735) chr5 166270480 166270492 GAAAGAAAAGAAA - het . 3 +intergenic NONE(dist=NONE),LINC01947(dist=61722) chr5 166270505 166270505 A G het . 4 +intergenic NONE(dist=NONE),LINC01947(dist=36374) chr5 166295853 166295853 A C het . 2 +intergenic NONE(dist=NONE),LINC01947(dist=33020) chr5 166299207 166299207 G A het . 2 +intergenic NONE(dist=NONE),LINC01947(dist=18695) chr5 166313531 166313532 AA - het . 3 +intergenic NONE(dist=NONE),LINC01947(dist=17326) chr5 166314901 166314901 T - het . 3 +intergenic LINC01947(dist=16939),LOC101927908(dist=221625) chr5 166370314 166370314 G A het . 3 +intergenic LINC01947(dist=52825),LOC101927908(dist=185734) chr5 166406200 166406205 CAGCAG - het . 10 +intergenic LINC01947(dist=90481),LOC101927908(dist=148083) chr5 166443856 166443856 C T het . 2 +intronic TENM2 chr5 166893503 166893503 G C het . 2 +intronic TENM2 chr5 167085254 167085254 G A het . 1 +intronic TENM2 chr5 167194016 167194016 C A het . 7 +exonic TENM2 chr5 167303036 167303036 C A het . 30 +intronic TENM2 chr5 167489049 167489049 - T het . 9 +intronic TENM2 chr5 167591402 167591402 C T het . 2 +intronic WWC1 chr5 167868930 167868930 G A het . 6 +intronic WWC1 chr5 167868950 167868950 G C het . 4 +intronic RARS chr5 167925127 167925127 C T het . 3 +intronic RARS chr5 167933215 167933215 A G het . 4 +intronic RARS chr5 167944026 167944026 T - het . 5 +exonic FBLL1 chr5 167956719 167956719 C A het . 3 +intronic SLIT3 chr5 168096760 168096760 C A het . 4 +intronic SLIT3 chr5 168121616 168121616 A C het . 2 +intronic SLIT3 chr5 168190443 168190443 C T het . 1 +intronic SLIT3 chr5 168216540 168216540 A C het . 13 +intronic SLIT3 chr5 168216547 168216547 A C het . 15 +intronic SLIT3 chr5 168241403 168241406 CAAA - het . 2 +intronic SLIT3 chr5 168244242 168244242 T C het . 1 +intronic SLIT3 chr5 168244256 168244256 G C het . 3 +intronic SLIT3 chr5 168286301 168286301 G A het . 1 +intronic SLIT3 chr5 168507060 168507060 G A het . 1 +intronic SLIT3 chr5 168511294 168511294 - T het . 3 +intronic SLIT3 chr5 168603008 168603008 C G het . 2 +intronic SLIT3 chr5 168684499 168684499 A G het . 2 +intronic SLIT3 chr5 168684836 168684836 G T het . 3 +intronic SPDL1 chr5 169020213 169020213 G A het . 6 +intronic SPDL1 chr5 169021519 169021519 C A het . 29 +intronic DOCK2 chr5 169112199 169112199 A G het . 2 +intronic DOCK2 chr5 169258221 169258221 A - het . 2 +intronic DOCK2 chr5 169262062 169262062 T G het . 2 +intronic DOCK2 chr5 169262067 169262067 T G het . 2 +exonic INSYN2B chr5 169309814 169309814 G A het . 21 +intronic DOCK2,INSYN2B chr5 169352702 169352702 C T het . 4 +intronic DOCK2,INSYN2B chr5 169354929 169354929 C A het . 2 +intronic DOCK2 chr5 169477011 169477011 T C het . 2 +intronic DOCK2 chr5 169491658 169491658 C T het . 4 +intronic DOCK2 chr5 169491695 169491700 CATATC - het . 3 +intergenic FOXI1(dist=31263),LINC01187(dist=50659) chr5 169567992 169567992 C G het . 6 +intergenic FOXI1(dist=68922),LINC01187(dist=13000) chr5 169605651 169605651 T - het . 2 +intergenic FOXI1(dist=73465),LINC01187(dist=8457) chr5 169610194 169610194 - TTTTG het . 1 +intergenic LINC01187(dist=10897),C5orf58(dist=22879) chr5 169637042 169637042 T C het . 5 +intronic C5orf58 chr5 169662249 169662249 G A het . 6 +ncRNA_intronic CTD-2270F17.1 chr5 169816939 169816939 G T het . 1 +intronic KCNIP1 chr5 169886977 169886977 C T het . 2 +intronic KCNIP1 chr5 169992533 169992533 C A het . 1 +intronic KCNIP1 chr5 169994556 169994556 C T het . 2 +exonic KCNIP1 chr5 170149737 170149737 G A het . 13 +intergenic KCNIP1(dist=1109),GABRP(dist=45977) chr5 170164746 170164746 G C het . 1 +exonic GABRP chr5 170239192 170239192 C A het . 35 +intronic RANBP17 chr5 170323843 170323843 T C het . 2 +intronic RANBP17 chr5 170324364 170324364 T - het . 9 +intronic RANBP17 chr5 170507063 170507063 G T het . 3 +intronic RANBP17 chr5 170694810 170694810 T A het . 4 +intergenic TLX3(dist=34183),SNORA70J(dist=19801) chr5 170773321 170773321 C T het . 2 +intronic NPM1 chr5 170818564 170818564 C A het . 11 +intronic NPM1 chr5 170819591 170819593 TTT - het . 6 +intronic NPM1 chr5 170819607 170819607 T A het . 6 +intronic NPM1 chr5 170833005 170833005 A G het . 2 +intronic NPM1 chr5 170837514 170837515 TT - het . 20 +intronic FGF18 chr5 170873076 170873076 A G het . 3 +intergenic FGF18(dist=105028),SMIM23(dist=223214) chr5 170989658 170989662 TTTTT - het . 2 +intergenic FGF18(dist=108305),SMIM23(dist=219941) chr5 170992935 170992935 A G het . 1 +intergenic FGF18(dist=178457),SMIM23(dist=149789) chr5 171063087 171063087 - TCTTT het . 6 +intergenic FGF18(dist=260062),SMIM23(dist=68184) chr5 171144692 171144692 C T het . 1 +intergenic SMIM23(dist=44604),FBXW11(dist=25860) chr5 171262696 171262696 C A het . 2 +intronic FBXW11 chr5 171378570 171378570 - T het . 2 +intronic FBXW11 chr5 171386861 171386861 - AAAAG het . 1 +intronic FBXW11 chr5 171412281 171412281 C A het . 2 +intronic STK10 chr5 171509644 171509644 T C het . 2 +intronic EFCAB9 chr5 171630197 171630197 - TTTC het . 14 +intronic EFCAB9 chr5 171630205 171630209 ACCCT - het . 16 +intronic UBTD2 chr5 171661104 171661104 C A het . 17 +intergenic LOC100288254(dist=6308),SH3PXD2B(dist=20499) chr5 171731688 171731688 T C het . 3 +intronic SH3PXD2B chr5 171822349 171822349 C G het . 2 +intergenic SH3PXD2B(dist=52416),LINC01944(dist=49785) chr5 171933943 171933943 A - het . 3 +intergenic SH3PXD2B(dist=70374),LINC01944(dist=31827) chr5 171951901 171951901 A G het . 2 +intergenic NEURL1B(dist=30996),LOC101928093(dist=32977) chr5 172149529 172149529 G T het . 1 +intergenic NEURL1B(dist=31015),LOC101928093(dist=32958) chr5 172149548 172149548 T C het . 2 +intergenic NEURL1B(dist=59791),LOC101928093(dist=4182) chr5 172178324 172178324 C T het . 4 +downstream LOC101928093(dist=231) chr5 172189796 172189796 - AG het . 25 +downstream LOC101928093(dist=240) chr5 172189805 172189805 T C het . 25 +intergenic DUSP1(dist=33053),ERGIC1(dist=29967) chr5 172231256 172231256 A C het . 2 +ncRNA_exonic LOC100268168 chr5 172381973 172381973 - GGT het . 33 +intergenic RPL26L1(dist=6754),ATP6V0E1(dist=7235) chr5 172403528 172403528 A G het . 4 +intronic ATP6V0E1 chr5 172413781 172413784 TTTG - het . 9 +intronic ATP6V0E1 chr5 172421761 172421762 TT - het . 17 +intergenic ATP6V0E1(dist=7000),CREBRF(dist=14455) chr5 172468900 172468900 C G het . 2 +intergenic ATP6V0E1(dist=9480),CREBRF(dist=11975) chr5 172471380 172471380 A - het . 4 +UTR3 CREBRF(NM_153607:c.*545_*546delAC) chr5 172561293 172561294 AC - het . 8 +intronic BNIP1 chr5 172578550 172578550 T - het . 16 +intronic BNIP1 chr5 172588027 172588027 G T het . 2 +intronic NKX2-5 chr5 172660523 172660527 TAAAT - het . 24 +intergenic NKX2-5(dist=17473),STC2(dist=61938) chr5 172679788 172679788 A G het . 2 +intergenic NKX2-5(dist=39952),STC2(dist=39459) chr5 172702267 172702267 T - het . 2 +intergenic MIR8056(dist=43476),LOC285593(dist=188622) chr5 172818015 172818015 G A het . 1 +intergenic MIR8056(dist=43522),LOC285593(dist=188576) chr5 172818061 172818061 G A het . 1 +intergenic MIR8056(dist=92286),LOC285593(dist=139812) chr5 172866825 172866825 A C het . 2 +intergenic BOD1(dist=32775),LINC01942(dist=40021) chr5 173076441 173076441 - T het . 2 +intergenic NSG2(dist=13405),LINC01411(dist=213770) chr5 173549587 173549587 T A het . 2 +intergenic NSG2(dist=15396),LINC01411(dist=211779) chr5 173551578 173551578 C G het . 2 +intergenic NSG2(dist=15433),LINC01411(dist=211742) chr5 173551615 173551615 T C het . 2 +intergenic NSG2(dist=20443),LINC01411(dist=206732) chr5 173556625 173556625 A C het . 2 +intergenic NSG2(dist=20446),LINC01411(dist=206729) chr5 173556628 173556628 G A het . 1 +intergenic NSG2(dist=135101),LINC01411(dist=92074) chr5 173671283 173671283 C A het . 5 +ncRNA_intronic LINC01411 chr5 173832293 173832293 C G het . 1 +ncRNA_intronic LINC01411 chr5 173832299 173832299 A T het . 1 +ncRNA_intronic LINC01411 chr5 173832301 173832301 G T het . 1 +ncRNA_intronic LINC01411 chr5 173883971 173883972 AT - het . 5 +ncRNA_intronic LINC01411 chr5 173888675 173888675 G A het . 3 +ncRNA_intronic LINC01411 chr5 173888805 173888805 G A het . 2 +ncRNA_intronic LINC01411 chr5 173907351 173907351 A G het . 4 +ncRNA_intronic LINC01411 chr5 173912155 173912155 C G het . 2 +ncRNA_intronic LINC01411 chr5 173926887 173926887 C T het . 2 +intergenic LINC01411(dist=123962),MSX2(dist=73471) chr5 174078104 174078104 T A het . 1 +intronic MSX2 chr5 174153205 174153205 A G het . 1 +intronic MSX2 chr5 174153210 174153210 G C het . 1 +intronic MSX2 chr5 174154074 174154074 A - het . 3 +intronic MSX2 chr5 174155998 174155998 G A het . 7 +intergenic MIR4634(dist=40299),LINC01951(dist=126996) chr5 174219089 174219089 T A het . 3 +intergenic MIR4634(dist=68884),LINC01951(dist=98411) chr5 174247674 174247674 C A het . 1 +intergenic MIR4634(dist=71140),LINC01951(dist=96155) chr5 174249930 174249930 G A het . 1 +intergenic MIR4634(dist=102682),LINC01951(dist=64613) chr5 174281472 174281472 G T het . 5 +intergenic MIR4634(dist=103726),LINC01951(dist=63569) chr5 174282516 174282516 T C het . 2 +intergenic MIR4634(dist=130420),LINC01951(dist=36875) chr5 174309210 174309210 C T het . 1 +intergenic MIR4634(dist=141378),LINC01951(dist=25913) chr5 174320168 174320172 ATTTA - het . 1 +intergenic MIR4634(dist=141386),LINC01951(dist=25909) chr5 174320176 174320176 A T het . 1 +intergenic MIR4634(dist=159664),LINC01951(dist=7631) chr5 174338454 174338454 C T het . 3 +intergenic LINC01951(dist=8308),DRD1(dist=435999) chr5 174431042 174431042 G A het . 2 +intergenic LINC01951(dist=205553),DRD1(dist=238754) chr5 174628287 174628287 C T het . 9 +intergenic LINC01951(dist=243144),DRD1(dist=201159) chr5 174665878 174665882 TTGTT - het . 7 +intergenic LINC01951(dist=358618),DRD1(dist=85689) chr5 174781352 174781352 - T het . 2 +intergenic HRH2(dist=92550),CPLX2(dist=17815) chr5 175205795 175205795 T A het . 2 +intronic CPLX2 chr5 175239610 175239610 G C het . 2 +intronic CPLX2 chr5 175247549 175247549 T C het . 2 +exonic CPLX2 chr5 175306965 175306967 GAG - het . 25 +intergenic CPLX2(dist=6887),THOC3(dist=68624) chr5 175317910 175317910 G A het . 5 +ncRNA_exonic LOC643201 chr5 175582353 175582353 C T het . 2 +intronic SIMC1 chr5 175735702 175735702 C T het . 31 +intronic SIMC1 chr5 175752702 175752702 T G het . 2 +exonic;splicing NOP16;NOP16(NM_001256540:exon5:c.583+1->AC,NM_001256539:exon5:c.586+1->AC,NM_001291305:exon5:c.544+1->AC) chr5 175811094 175811094 - GT het . 15 +intronic CLTB chr5 175823608 175823609 AG - het . 11 +intergenic CLTB(dist=27713),FAF2(dist=4068) chr5 175871283 175871288 AAATAT - het . 2 +intergenic CLTB(dist=28787),FAF2(dist=2998) chr5 175872357 175872358 GG TA het . 2 +intronic CDHR2 chr5 175971376 175971376 - TT het . 2 +intronic CDHR2 chr5 175985213 175985213 T C het . 1 +intronic CDHR2 chr5 175985216 175985217 TT - het . 1 +intronic CDHR2 chr5 176002273 176002274 CC TT het . 18 +intronic CDHR2 chr5 176002873 176002873 C T het . 3 +exonic GPRIN1 chr5 176024880 176024880 C T het . 23 +exonic GPRIN1 chr5 176025889 176025889 C A het . 34 +intronic SNCB chr5 176053709 176053709 C A het . 24 +intronic EIF4E1B chr5 176061653 176061653 - A het . 2 +intronic EIF4E1B chr5 176061657 176061657 G T het . 1 +intronic TSPAN17 chr5 176082912 176082912 C - het . 2 +intronic UNC5A chr5 176255153 176255153 T C het . 1 +intronic HK3 chr5 176308870 176308870 - AG het . 6 +intronic HK3 chr5 176313955 176313955 G A het . 4 +exonic HK3 chr5 176314677 176314677 C A het . 23 +exonic UIMC1 chr5 176332408 176332408 C A het . 50 +intronic UIMC1 chr5 176333126 176333126 C T het . 15 +intronic UIMC1 chr5 176333133 176333133 T C het . 15 +intronic UIMC1 chr5 176338406 176338407 AT - het . 11 +intronic ZNF346 chr5 176503563 176503563 A G het . 2 +intronic FGFR4 chr5 176522728 176522728 C T het . 5 +intergenic FGFR4(dist=1127),NSD1(dist=33810) chr5 176526270 176526270 G A het . 1 +intronic NSD1 chr5 176673902 176673902 C A het . 14 +intronic NSD1 chr5 176692265 176692265 A G het . 12 +exonic RAB24 chr5 176729134 176729134 C A het . 34 +upstream MXD3(dist=952) chr5 176740244 176740244 A G het . 2 +intergenic F12(dist=2098),GRK6(dist=15002) chr5 176838675 176838675 A - het . 2 +intronic GRK6 chr5 176857769 176857769 A G het . 5 +intronic GRK6 chr5 176859321 176859321 C A het . 16 +intronic DBN1 chr5 176894344 176894344 G A het . 16 +UTR3 DDX41(NM_001321830:c.*111G>A,NM_016222:c.*111G>A,NM_001321732:c.*111G>A) chr5 176938681 176938681 C T het . 2 +intronic DDX41 chr5 176942372 176942373 AG - het . 12 +exonic FAM193B chr5 176951276 176951276 A G het . 8 +intronic FAM193B chr5 176957065 176957065 G A het . 2 +intronic FAM193B chr5 176974019 176974019 T C het . 1 +upstream TMED9(dist=508) chr5 177018641 177018641 T C het . 1 +intronic TMED9 chr5 177019688 177019688 G C het . 7 +intronic B4GALT7 chr5 177036043 177036043 A G het . 20 +intronic B4GALT7 chr5 177036078 177036078 G T het . 17 +ncRNA_intronic LOC202181 chr5 177054650 177054652 TTT - het . 6 +ncRNA_intronic LOC202181 chr5 177054672 177054672 T C het . 6 +ncRNA_intronic LOC100128340 chr5 177371026 177371026 T C het . 2 +intergenic FAM153C(dist=16821),N4BP3(dist=49079) chr5 177491477 177491477 T C het . 1 +intergenic FAM153C(dist=38524),N4BP3(dist=27376) chr5 177513180 177513180 G A het . 2 +upstream HNRNPAB(dist=666) chr5 177630839 177630842 AAAG - het . 2 +intronic HNRNPAB chr5 177633116 177633116 A G het . 2 +intronic PHYKPL chr5 177642177 177642177 C T het . 2 +intronic COL23A1 chr5 177680674 177680674 C G het . 2 +exonic COL23A1 chr5 177683377 177683377 T C het . 9 +intronic COL23A1 chr5 177967649 177967649 G A het . 2 +intronic COL23A1 chr5 177974480 177974480 A C het . 1 +intergenic COL23A1(dist=3262),CLK4(dist=8847) chr5 178020818 178020818 A T het . 2 +intronic CLK4 chr5 178046998 178046998 C A het . 3 +exonic ZNF354A chr5 178140225 178140225 C A het . 42 +intronic ZNF354A chr5 178153317 178153317 - T het . 3 +intronic ZNF354A chr5 178154874 178154874 A G het . 1 +ncRNA_intronic AACSP1 chr5 178224519 178224519 T C het . 3 +ncRNA_exonic AACSP1 chr5 178224547 178224547 A G het . 3 +ncRNA_intronic AACSP1 chr5 178233127 178233127 T C het . 2 +intergenic AACSP1(dist=5917),ZNF354B(dist=35601) chr5 178251353 178251353 T C het . 2 +intergenic AACSP1(dist=12897),ZNF354B(dist=28621) chr5 178258333 178258333 - GACCTGG het . 2 +intergenic AACSP1(dist=34898),ZNF354B(dist=6620) chr5 178280334 178280334 T A het . 2 +intergenic AACSP1(dist=38594),ZNF354B(dist=2924) chr5 178284030 178284030 C T het . 2 +intronic ZNF354B chr5 178293700 178293702 CTT - het . 2 +intronic ZNF354B chr5 178293937 178293937 G A het . 17 +intronic ZNF354B chr5 178293943 178293943 T C het . 16 +intronic ZFP2 chr5 178357308 178357308 - CTTT het . 5 +downstream ZFP2(dist=209) chr5 178360421 178360421 G T het . 2 +intronic ZNF454 chr5 178368465 178368465 - CAAA het . 27 +intronic ZNF454 chr5 178383855 178383855 C T het . 8 +exonic ZNF454 chr5 178383946 178383946 A G het . 11 +exonic ZNF454 chr5 178392636 178392636 C A het . 36 +intronic GRM6 chr5 178409694 178409700 AAAAAAA - het . 6 +intronic GRM6 chr5 178419279 178419279 - GGCAAGGTCT het . 12 +intronic GRM6 chr5 178419288 178419288 C T het . 8 +intergenic ZNF354C(dist=4843),ADAMTS2(dist=22031) chr5 178515821 178515821 G C het . 2 +intronic ADAMTS2 chr5 178554777 178554777 A C het . 1 +intronic ADAMTS2 chr5 178554780 178554780 A C het . 1 +intronic ADAMTS2 chr5 178556869 178556869 A C het . 2 +exonic ADAMTS2 chr5 178585843 178585843 C A het . 28 +intronic ADAMTS2 chr5 178616512 178616512 T C het . 3 +intronic ADAMTS2 chr5 178710946 178710946 G T het . 2 +intronic ADAMTS2 chr5 178758238 178758238 G A het . 2 +intronic ADAMTS2 chr5 178768312 178768312 C T het . 9 +intronic ADAMTS2 chr5 178768730 178768730 A G het . 1 +intergenic ADAMTS2(dist=43528),RUFY1(dist=161603) chr5 178815959 178815959 C T het . 3 +intergenic ADAMTS2(dist=177149),RUFY1(dist=27982) chr5 178949580 178949580 C T het . 8 +intergenic ADAMTS2(dist=201496),RUFY1(dist=3635) chr5 178973927 178973927 C G het . 3 +intergenic ADAMTS2(dist=201939),RUFY1(dist=3192) chr5 178974370 178974370 C A het . 2 +intronic RUFY1 chr5 179010412 179010412 - AT het . 2 +intronic RUFY1 chr5 179022113 179022113 G A het . 4 +intronic HNRNPH1 chr5 179043075 179043075 T C het . 5 +intronic HNRNPH1 chr5 179043763 179043763 C A het . 11 +UTR5 HNRNPH1(NM_001364238:c.-37T>G) chr5 179050171 179050171 A C het . 11 +intronic HNRNPH1 chr5 179058513 179058513 G A het . 1 +intergenic C5orf60(dist=6893),LOC105377763(dist=5823) chr5 179078940 179078940 T C het . 9 +intronic CANX chr5 179125671 179125671 T C het . 7 +intronic CANX chr5 179125678 179125678 C G het . 7 +intronic CANX chr5 179142826 179142826 T - het . 9 +exonic MAML1 chr5 179201338 179201338 C A het . 23 +exonic MAML1 chr5 179201698 179201698 C A het . 4 +intergenic MAML1(dist=14707),LTC4S(dist=1992) chr5 179218994 179218994 G C het . 5 +intronic LTC4S chr5 179222772 179222772 A C het . 22 +intronic MGAT4B chr5 179227154 179227154 G A het . 9 +UTR3 SQSTM1(NM_001142298:c.*545C>A,NM_001142299:c.*545C>A,NM_003900:c.*545C>A) chr5 179264138 179264138 C A het . 25 +intronic MRNIP chr5 179280171 179280171 C A het . 14 +exonic TBC1D9B chr5 179298526 179298526 C T het . 12 +intronic TBC1D9B chr5 179322166 179322166 C G het . 3 +intergenic TBC1D9B(dist=31894),RNF130(dist=15317) chr5 179366750 179366750 G A het . 10 +intronic RNF130 chr5 179445248 179445248 C T het . 3 +intronic RNF130 chr5 179445295 179445295 A - het . 3 +intronic RASGEF1C chr5 179542313 179542313 C A het . 25 +intronic RASGEF1C chr5 179546030 179546031 AG GA het . 3 +intronic RASGEF1C chr5 179586456 179586456 A G het . 2 +intronic RASGEF1C chr5 179611177 179611178 AA - het . 2 +intronic RASGEF1C chr5 179611185 179611186 AT - het . 2 +intronic RASGEF1C chr5 179611211 179611211 G T het . 2 +intronic RASGEF1C chr5 179619712 179619712 G T het . 1 +intronic RASGEF1C chr5 179619730 179619730 A T het . 2 +intronic RASGEF1C chr5 179619751 179619752 TT - het . 3 +intergenic RASGEF1C(dist=15830),MAPK9(dist=8620) chr5 179651960 179651961 GG - het . 1 +intronic MAPK9 chr5 179665572 179665572 A G het . 6 +intronic MAPK9 chr5 179696252 179696252 A T het . 21 +intergenic GFPT2(dist=139525),CNOT6(dist=1487) chr5 179919912 179919912 G C het . 5 +intergenic GFPT2(dist=139531),CNOT6(dist=1481) chr5 179919918 179919918 A T het . 4 +intergenic GFPT2(dist=139537),CNOT6(dist=1475) chr5 179919924 179919924 - TTC het . 4 +intronic CNOT6 chr5 179968441 179968441 A T het . 2 +intronic CNOT6 chr5 179994816 179994817 TG - het . 14 +intronic CNOT6 chr5 179998804 179998804 T G het . 2 +intronic FLT4 chr5 180040883 180040883 C A het . 4 +intronic FLT4 chr5 180046493 180046494 AG - het . 14 +exonic FLT4 chr5 180053156 180053156 C A het . 34 +intergenic LINC02222(dist=16583),OR2Y1(dist=35997) chr5 180130126 180130126 A G het . 1 +exonic ZFP62 chr5 180276049 180276049 C A het . 23 +intronic ZFP62 chr5 180281250 180281250 G C het . 2 +intronic ZFP62 chr5 180281265 180281265 C A het . 1 +intronic BTNL9 chr5 180481217 180481220 TTTT - het . 18 +intronic BTNL9 chr5 180486224 180486224 T G het . 10 +exonic BTNL9 chr5 180486247 180486247 G T het . 15 +intergenic OR2V1(dist=10581),OR2V2(dist=19058) chr5 180562885 180562885 T C het . 2 +intergenic OR2V1(dist=10613),OR2V2(dist=19026) chr5 180562917 180562917 A C het . 2 +intergenic OR2V1(dist=26385),OR2V2(dist=3254) chr5 180578689 180578689 T C het . 3 +intronic TRIM7 chr5 180625638 180625638 A C het . 4 +exonic TRIM41 chr5 180659751 180659751 T G het . 22 +intergenic LOC285766(dist=84520),DUSP22(dist=2053) chr6 290004 290004 C A het . 4 +intronic DUSP22 chr6 335175 335175 A T het . 36 +downstream DUSP22(dist=267) chr6 351622 351622 A G het . 1 +intergenic DUSP22(dist=34332),IRF4(dist=6052) chr6 385687 385687 C T het . 2 +upstream IRF4(dist=116) chr6 391623 391623 C A het . 2 +intronic EXOC2 chr6 489202 489202 C T het . 9 +exonic HUS1B chr6 656143 656143 C A het . 6 +intergenic EXOC2(dist=74569),LOC101927691(dist=100788) chr6 767710 767710 C T het . 3 +intergenic LOC101927691(dist=58552),LINC01622(dist=26076) chr6 935165 935165 C A het . 2 +intergenic FOXQ1(dist=25514),FOXF2(dist=49304) chr6 1340507 1340507 G A het . 2 +intergenic FOXF2(dist=29635),FOXCUT(dist=180293) chr6 1425473 1425473 C T het . 2 +intergenic FOXF2(dist=59134),FOXCUT(dist=150794) chr6 1454972 1454972 T C het . 1 +intergenic FOXF2(dist=84258),FOXCUT(dist=125670) chr6 1480096 1480096 - A het . 1 +intergenic FOXF2(dist=84271),FOXCUT(dist=125657) chr6 1480109 1480109 C A het . 1 +exonic FOXC1 chr6 1612017 1612017 - CGG het . 6 +exonic FOXC1 chr6 1612142 1612144 GCG - het . 14 +intronic GMDS chr6 1955398 1955398 C T het . 4 +intronic GMDS chr6 2244003 2244003 T A het . 2 +intergenic GMDS-DT(dist=173989),LINC01600(dist=34333) chr6 2587814 2587814 G T het . 1 +intergenic GMDS-DT(dist=174008),LINC01600(dist=34314) chr6 2587833 2587833 C T het . 2 +UTR3 MYLK4(NM_001347872:c.*3784G>T,NM_001012418:c.*3784G>T) chr6 2664375 2664375 C A het . 2 +intronic MYLK4 chr6 2725908 2725908 A T het . 2 +exonic WRNIP1 chr6 2765882 2765882 A C het . 11 +exonic WRNIP1 chr6 2766144 2766144 T C het . 8 +intronic SERPINB1 chr6 2838248 2838248 G A het . 10 +ncRNA_exonic SERPINB9P1 chr6 2876577 2876577 T G het . 3 +ncRNA_exonic SERPINB9P1 chr6 2876581 2876581 C T het . 2 +intronic SERPINB9 chr6 2901113 2901113 - CTCT het . 2 +intronic NQO2 chr6 3010103 3010103 G A het . 3 +intergenic LOC101927759(dist=12570),RIPK1(dist=23837) chr6 3040238 3040238 G T het . 3 +intergenic LOC101927759(dist=31912),RIPK1(dist=4495) chr6 3059580 3059580 G C het . 2 +intergenic TUBB2A(dist=17164),LINC02525(dist=8105) chr6 3174947 3174947 C T het . 2 +intronic SLC22A23 chr6 3439510 3439510 T C het . 9 +intergenic LOC643327(dist=248930),PXDC1(dist=4662) chr6 3718174 3718174 G T het . 2 +intergenic LOC643327(dist=248936),PXDC1(dist=4656) chr6 3718180 3718180 T C het . 2 +intergenic LOC643327(dist=248939),PXDC1(dist=4653) chr6 3718183 3718183 A G het . 2 +intergenic PXDC1(dist=7737),FAM50B(dist=89616) chr6 3759983 3759984 TC - het . 2 +intergenic FAM50B(dist=9527),PRPF4B(dist=160488) chr6 3861081 3861081 T - het . 3 +intergenic FAM50B(dist=100242),PRPF4B(dist=69773) chr6 3951796 3951796 C T het . 1 +upstream PRPF4B(dist=15) chr6 4021554 4021554 A G het . 4 +intronic PRPF4B chr6 4040924 4040924 A G het . 8 +intronic PRPF4B chr6 4052167 4052167 C A het . 8 +intronic PRPF4B chr6 4052171 4052171 A G het . 8 +intronic PRPF4B chr6 4054694 4054694 - T het . 3 +intronic PRPF4B chr6 4059124 4059124 A - het . 10 +UTR3 ECI2(NM_001166010:c.*128T>C,NM_006117:c.*128T>C,NM_206836:c.*128T>C) chr6 4115980 4115980 A G het . 2 +intronic C6orf201,ECI2 chr6 4119516 4119516 A G het . 14 +intronic C6orf201,ECI2 chr6 4125655 4125655 A G het . 9 +intergenic LOC102724096(dist=188192),LINC02533(dist=110577) chr6 4378455 4378455 A - het . 2 +intergenic LOC102724096(dist=242797),LINC02533(dist=55972) chr6 4433060 4433060 T C het . 3 +intergenic KU-MEL-3(dist=46052),CDYL(dist=118475) chr6 4658205 4658205 - TTA het . 2 +intronic CDYL chr6 4897994 4897994 - AAA het . 1 +intronic RPP40 chr6 4995567 4995567 T - het . 11 +intronic RPP40 chr6 5003602 5003602 G A het . 2 +ncRNA_intronic LYRM4-AS1 chr6 5066516 5066516 G A het . 15 +exonic PPP1R3G chr6 5086558 5086558 C A het . 16 +intergenic FARS2(dist=92320),NRN1(dist=134088) chr6 5864145 5864145 G A het . 2 +intergenic NRN1(dist=27053),F13A1(dist=109420) chr6 6034891 6034891 A G het . 2 +intergenic NRN1(dist=27059),F13A1(dist=109414) chr6 6034897 6034897 T C het . 2 +intergenic NRN1(dist=81277),F13A1(dist=55195) chr6 6089115 6089116 GA - het . 2 +intergenic NRN1(dist=111199),F13A1(dist=25274) chr6 6119037 6119037 G T het . 3 +exonic F13A1 chr6 6248634 6248634 C G het . 34 +ncRNA_intronic LY86-AS1 chr6 6351318 6351318 T C het . 2 +ncRNA_intronic LY86-AS1 chr6 6351345 6351345 C A het . 2 +ncRNA_intronic LY86-AS1 chr6 6351354 6351354 T C het . 2 +ncRNA_intronic LY86-AS1 chr6 6589192 6589192 - GA het . 2 +intronic LY86 chr6 6649974 6649974 - AGG het . 10 +intronic RREB1 chr6 7187774 7187783 TTTTATTTTA - het . 3 +intronic RREB1 chr6 7188633 7188633 A G het . 4 +exonic RREB1 chr6 7230005 7230005 C T het . 7 +exonic RREB1 chr6 7246998 7246998 G A het . 16 +exonic RREB1 chr6 7247344 7247344 C A het . 30 +exonic RREB1 chr6 7247381 7247381 G A het . 23 +intronic CAGE1 chr6 7334360 7334360 G A het . 24 +exonic CAGE1 chr6 7373745 7373745 C A het . 36 +intronic CAGE1 chr6 7379442 7379442 G A het . 2 +exonic RIOK1 chr6 7393452 7393452 C T het . 31 +intergenic RIOK1(dist=12918),DSP(dist=110617) chr6 7431188 7431191 AAAC - het . 3 +intergenic RIOK1(dist=19599),DSP(dist=103939) chr6 7437869 7437869 A G het . 3 +intergenic RIOK1(dist=25312),DSP(dist=98225) chr6 7443582 7443583 AG - het . 1 +intergenic RIOK1(dist=25473),DSP(dist=98065) chr6 7443743 7443743 T A het . 2 +intergenic RIOK1(dist=62953),DSP(dist=60585) chr6 7481223 7481223 A C het . 2 +intronic DSP chr6 7558262 7558262 C A het . 20 +intronic DSP chr6 7575507 7575507 T - het . 22 +intronic DSP chr6 7579363 7579363 A T het . 8 +intronic DSP chr6 7579383 7579383 C A het . 10 +intronic DSP chr6 7579393 7579394 CA TG het . 14 +intronic DSP chr6 7579412 7579412 A G het . 16 +exonic DSP chr6 7585967 7585967 G C het . 8 +intronic SNRNP48 chr6 7606255 7606255 G A het . 10 +intronic BMP6 chr6 7767197 7767197 - T het . 2 +ncRNA_intronic BLOC1S5-TXNDC5 chr6 7953217 7953217 G T het . 2 +ncRNA_intronic EEF1E1-BLOC1S5 chr6 8064677 8064677 G A het . 3 +ncRNA_intronic LOC100506207 chr6 8458775 8458775 T - het . 2 +ncRNA_intronic LOC100506207 chr6 8475996 8475996 C A het . 2 +ncRNA_intronic LOC100506207 chr6 8624935 8624935 - CTTT het . 2 +ncRNA_intronic LOC100506207 chr6 8677574 8677574 T C het . 2 +intergenic LOC100506207(dist=364394),TFAP2A(dist=1246844) chr6 9150072 9150072 A G het . 2 +intergenic LOC100506207(dist=407995),TFAP2A(dist=1203242) chr6 9193673 9193674 AA TT het . 2 +intergenic LOC100506207(dist=875373),TFAP2A(dist=735864) chr6 9661051 9661052 AA - het . 5 +intergenic LOC100506207(dist=906384),TFAP2A(dist=704853) chr6 9692062 9692063 TA - het . 1 +intergenic LOC100506207(dist=964752),TFAP2A(dist=646486) chr6 9750430 9750430 T C het . 1 +intergenic LOC100506207(dist=965053),TFAP2A(dist=646177) chr6 9750731 9750739 TAATAATAA - het . 12 +intergenic LOC100506207(dist=965080),TFAP2A(dist=646158) chr6 9750758 9750758 T C het . 13 +intergenic LOC100506207(dist=1009858),TFAP2A(dist=601367) chr6 9795536 9795549 AGAAGAAGAAGAAG - het . 5 +intergenic LOC100506207(dist=1096211),TFAP2A(dist=515027) chr6 9881889 9881889 T A het . 2 +intergenic LOC100506207(dist=1326579),TFAP2A(dist=284659) chr6 10112257 10112257 - AAA het . 4 +intergenic LOC100506207(dist=1326581),TFAP2A(dist=284657) chr6 10112259 10112259 - A het . 4 +intergenic LOC100506207(dist=1370411),TFAP2A(dist=240823) chr6 10156089 10156093 AAAAG - het . 3 +intergenic LOC100506207(dist=1428386),TFAP2A(dist=182851) chr6 10214064 10214065 TT - het . 3 +intergenic LOC100506207(dist=1428761),TFAP2A(dist=182477) chr6 10214439 10214439 G A het . 6 +intergenic LOC100506207(dist=1428773),TFAP2A(dist=182465) chr6 10214451 10214451 G A het . 8 +intergenic LOC100506207(dist=1581263),TFAP2A(dist=29975) chr6 10366941 10366941 G A het . 5 +exonic TFAP2A chr6 10400781 10400781 C A het . 46 +ncRNA_intronic TFAP2A-AS1 chr6 10415307 10415307 C G het . 17 +UTR5 TFAP2A(NM_001042425:c.-4C>T) chr6 10419687 10419687 G A het . 12 +intronic GCNT2 chr6 10534374 10534374 C T het . 2 +intronic GCNT2 chr6 10557727 10557727 T - het . 9 +intronic GCNT2 chr6 10604051 10604056 TTTTTT - het . 3 +UTR5 C6orf52(NM_001354357:c.-50G>A) chr6 10685134 10685134 C T het . 13 +intronic PAK1IP1 chr6 10702474 10702474 A - het . 8 +intronic PAK1IP1 chr6 10704962 10704962 C A het . 28 +exonic TMEM14B chr6 10756712 10756712 C T het . 22 +exonic TMEM14B chr6 10756728 10756728 C T het . 24 +intronic MAK chr6 10765049 10765049 G T het . 3 +intronic MAK chr6 10765071 10765071 G A het . 3 +intronic MAK chr6 10770224 10770224 C A het . 15 +intronic MAK chr6 10776008 10776008 G A het . 2 +intergenic GCM2(dist=2822),SYCP2L(dist=2144) chr6 10884920 10884920 C T het . 2 +exonic SYCP2L chr6 10898308 10898308 C T het . 14 +intronic SYCP2L chr6 10899254 10899254 A G het . 5 +exonic SYCP2L chr6 10956414 10956414 A G het . 21 +intergenic ELOVL2-AS1(dist=6656),SMIM13(dist=8233) chr6 11086033 11086033 G A het . 7 +intergenic NEDD9(dist=77071),TMEM170B(dist=78808) chr6 11459652 11459652 G A het . 7 +intergenic NEDD9(dist=84726),TMEM170B(dist=71153) chr6 11467307 11467307 G C het . 2 +intergenic TMEM170B(dist=103170),ADTRP(dist=26961) chr6 11686927 11686927 A - het . 2 +UTR3 ADTRP(NM_032744:c.*71_*72insTT,NM_001143948:c.*71_*72insTT) chr6 11714639 11714639 - AA het . 11 +intronic ADTRP chr6 11716934 11716934 - TTTTTC het . 2 +intergenic ADTRP(dist=116402),LOC101928253(dist=94894) chr6 11895682 11895682 G A het . 2 +intergenic ADTRP(dist=117663),LOC101928253(dist=93633) chr6 11896943 11896943 C A het . 1 +intergenic ADTRP(dist=117693),LOC101928253(dist=93603) chr6 11896973 11896973 T A het . 1 +intergenic ADTRP(dist=120910),LOC101928253(dist=90386) chr6 11900190 11900190 - T het . 2 +intronic HIVEP1 chr6 12048827 12048827 A G het . 2 +exonic HIVEP1 chr6 12123182 12123183 CC TT het . 10 +intronic EDN1 chr6 12291112 12291112 T C het . 16 +intronic EDN1 chr6 12294118 12294118 C A het . 11 +intronic EDN1 chr6 12296041 12296041 C T het . 19 +intergenic EDN1(dist=22366),LINC02530(dist=263207) chr6 12319793 12319793 G T het . 7 +intergenic EDN1(dist=198614),LINC02530(dist=86959) chr6 12496041 12496041 - AA het . 2 +intergenic LINC02530(dist=8125),PHACTR1(dist=123127) chr6 12593761 12593761 A T het . 2 +intronic PHACTR1 chr6 12805821 12805821 G C het . 2 +intronic PHACTR1 chr6 12856468 12856471 TTTC - het . 2 +intronic PHACTR1 chr6 12978025 12978025 C T het . 2 +intronic LOC100130357,PHACTR1,TBC1D7-LOC100130357 chr6 13286202 13286202 G T het . 3 +intronic LOC100130357,TBC1D7-LOC100130357 chr6 13288737 13288737 T A het . 9 +intronic LOC100130357,TBC1D7-LOC100130357 chr6 13294978 13294978 A C het . 6 +intronic TBC1D7,TBC1D7-LOC100130357 chr6 13316781 13316781 A - het . 9 +intergenic GFOD1(dist=4302),SIRT5(dist=82590) chr6 13492171 13492171 - TTAATTAA het . 1 +UTR3 MCUR1(NM_001031713:c.*1680C>T) chr6 13789361 13789361 G A het . 2 +intergenic MCUR1(dist=61393),RNF182(dist=48490) chr6 13876185 13876187 AGG - het . 2 +intergenic RNF182(dist=93806),CD83(dist=43441) chr6 14074046 14074046 - T het . 2 +intergenic RNF182(dist=93814),CD83(dist=43433) chr6 14074054 14074054 A T het . 2 +intergenic RNF182(dist=113316),CD83(dist=23931) chr6 14093556 14093556 A G het . 1 +intergenic CD83(dist=94042),LINC01108(dist=49168) chr6 14231190 14231190 C A het . 2 +intergenic LINC01108(dist=309325),JARID2(dist=651196) chr6 14595010 14595010 C A het . 3 +intergenic LINC01108(dist=309335),JARID2(dist=651186) chr6 14595020 14595020 T C het . 2 +intergenic LINC01108(dist=438235),JARID2(dist=522283) chr6 14723920 14723923 GGAA - het . 2 +intergenic LINC01108(dist=438260),JARID2(dist=522261) chr6 14723945 14723945 A T het . 1 +intergenic LINC01108(dist=469104),JARID2(dist=491417) chr6 14754789 14754789 T A het . 3 +intergenic LINC01108(dist=598950),JARID2(dist=361571) chr6 14884635 14884635 C A het . 2 +intergenic LINC01108(dist=666908),JARID2(dist=293613) chr6 14952593 14952593 A C het . 2 +intergenic LINC01108(dist=670337),JARID2(dist=290184) chr6 14956022 14956022 G T het . 4 +intergenic LINC01108(dist=806474),JARID2(dist=154047) chr6 15092159 15092159 - A het . 2 +intergenic LINC01108(dist=858996),JARID2(dist=101522) chr6 15144681 15144684 AAAC - het . 2 +intergenic LINC01108(dist=901333),JARID2(dist=59188) chr6 15187018 15187018 T - het . 8 +UTR3 JARID2(NM_004973:c.*296G>T,NM_001267040:c.*296G>T) chr6 15520778 15520778 G T het . 2 +UTR3 JARID2(NM_004973:c.*438_*439insCA,NM_001267040:c.*438_*439insCA) chr6 15520920 15520920 - CA het . 2 +intronic DTNBP1 chr6 15523794 15523794 T - het . 9 +intronic DTNBP1 chr6 15567522 15567522 A - het . 2 +intronic DTNBP1 chr6 15593320 15593320 A - het . 15 +intronic DTNBP1 chr6 15651643 15651643 A - het . 24 +UTR5 DTNBP1(NM_032122:c.-18A>G,NM_001271667:c.-35433A>G,NM_001271669:c.-18A>G,NM_001271668:c.-18A>G,NM_183040:c.-18A>G) chr6 15663118 15663118 T C het . 27 +intergenic DTNBP1(dist=25684),MYLIP(dist=440344) chr6 15688973 15688973 T C het . 2 +intergenic DTNBP1(dist=95027),MYLIP(dist=371001) chr6 15758316 15758316 G T het . 1 +intergenic DTNBP1(dist=157583),MYLIP(dist=308445) chr6 15820872 15820872 A G het . 2 +intergenic DTNBP1(dist=269606),MYLIP(dist=196422) chr6 15932895 15932895 G C het . 2 +intergenic DTNBP1(dist=285139),MYLIP(dist=180889) chr6 15948428 15948428 - TTTTC het . 2 +intergenic DTNBP1(dist=338057),MYLIP(dist=127971) chr6 16001346 16001346 C T het . 1 +intronic ATXN1 chr6 16373165 16373165 T C het . 4 +intronic ATXN1 chr6 16604573 16604573 C - het . 2 +intronic ATXN1 chr6 16640764 16640764 G A het . 2 +intergenic LOC101928433(dist=298761),STMND1(dist=36614) chr6 17065875 17065875 T C het . 2 +UTR5 RBM24(NM_001143941:c.-627G>C) chr6 17282415 17282415 G C het . 7 +intronic CAP2 chr6 17445727 17445727 C T het . 2 +intronic CAP2 chr6 17541444 17541444 C A het . 8 +intronic FAM8A1 chr6 17602798 17602798 T - het . 7 +intronic NUP153 chr6 17616493 17616493 C G het . 10 +intergenic LOC105374952(dist=5024),KIF13A(dist=43132) chr6 17716282 17716282 T A het . 2 +UTR3 KIF13A(NM_001105568:c.*35G>T) chr6 17761053 17761053 C A het . 10 +intronic KIF13A chr6 17773893 17773893 - T het . 7 +intronic KIF13A chr6 17787886 17787886 - AACAAA het . 7 +exonic KIF13A chr6 17817356 17817356 C T het . 16 +intronic KIF13A chr6 17835274 17835274 A G het . 2 +intronic KIF13A chr6 17951669 17951669 A - het . 7 +intronic KIF13A chr6 17951670 17951670 A T het . 7 +exonic NHLRC1 chr6 18122526 18122526 A G het . 20 +upstream NHLRC1(dist=91) chr6 18122942 18122942 G C het . 3 +intronic TPMT chr6 18134008 18134008 - A het . 24 +intronic TPMT chr6 18134021 18134021 C A het . 24 +intronic TPMT chr6 18139965 18139965 A - het . 20 +intronic TPMT chr6 18139974 18139975 TT - het . 21 +intronic KDM1B chr6 18177411 18177411 T C het . 3 +intronic KDM1B chr6 18197589 18197589 C A het . 5 +exonic KDM1B chr6 18212739 18212739 G A het . 13 +intronic DEK chr6 18225975 18225975 G A het . 20 +intronic DEK chr6 18236599 18236599 C T het . 24 +intronic DEK chr6 18236839 18236843 TAATA - het . 8 +intronic DEK chr6 18244825 18244825 A C het . 15 +intergenic DEK(dist=17138),RNF144B(dist=105629) chr6 18281937 18281952 CTTCTTCTTCGTTCTT - het . 4 +intergenic RNF144B(dist=14890),MIR548A1HG(dist=38979) chr6 18483995 18483999 TTTCT - het . 1 +intergenic RNF144B(dist=38755),MIR548A1HG(dist=15118) chr6 18507860 18507860 - A het . 2 +ncRNA_intronic MIR548A1HG chr6 18593303 18593303 C T het . 1 +ncRNA_intronic MIR548A1HG chr6 18593318 18593318 C T het . 1 +intergenic MIR548A1HG(dist=6473),LOC101928519(dist=339172) chr6 18729602 18729602 A - het . 2 +intergenic MIR548A1HG(dist=88990),LOC101928519(dist=256655) chr6 18812119 18812119 G T het . 2 +intergenic MIR548A1HG(dist=89016),LOC101928519(dist=256629) chr6 18812145 18812145 T G het . 2 +intergenic MIR548A1HG(dist=181635),LOC101928519(dist=164010) chr6 18904764 18904764 C T het . 1 +intergenic MIR548A1HG(dist=210126),LOC101928519(dist=135519) chr6 18933255 18933255 - A het . 2 +intergenic MIR548A1HG(dist=269868),LOC101928519(dist=75775) chr6 18992997 18992999 ACA - het . 2 +ncRNA_intronic LOC100506885 chr6 19802226 19802226 A C het . 3 +intronic MBOAT1 chr6 20153059 20153063 TTTGT - het . 14 +intronic MBOAT1 chr6 20157680 20157680 C T het . 3 +intergenic MBOAT1(dist=111491),E2F3(dist=77948) chr6 20324186 20324189 TTTG - het . 3 +downstream E2F3(dist=64) chr6 20494009 20494009 A T het . 2 +intergenic E2F3(dist=11861),CDKAL1(dist=28882) chr6 20505806 20505806 - A het . 4 +intergenic E2F3(dist=11877),CDKAL1(dist=28866) chr6 20505822 20505822 G C het . 4 +intronic CDKAL1 chr6 20581042 20581042 T C het . 2 +intronic CDKAL1 chr6 20649808 20649808 C A het . 9 +intronic CDKAL1 chr6 20758809 20758810 TT - het . 9 +intronic CDKAL1 chr6 20869480 20869480 G A het . 2 +intronic CDKAL1 chr6 21065147 21065147 G A het . 5 +intronic CDKAL1 chr6 21202001 21202001 T C het . 2 +ncRNA_intronic CASC15 chr6 21980893 21980893 C T het . 2 +ncRNA_intronic CASC15 chr6 22004212 22004212 G C het . 2 +ncRNA_intronic CASC15,NBAT1 chr6 22146798 22146798 - T het . 2 +ncRNA_intronic CASC15,NBAT1 chr6 22146816 22146816 C T het . 2 +ncRNA_intronic CASC15 chr6 22173221 22173222 GA AT het . 2 +intergenic PRL(dist=149435),HDGFL1(dist=117161) chr6 22452517 22452517 T C het . 2 +intergenic PRL(dist=236298),HDGFL1(dist=30298) chr6 22539380 22539380 G A het . 4 +ncRNA_intronic LOC105374972 chr6 22685119 22685119 - T het . 2 +intergenic LOC105374972(dist=306813),NRSN1(dist=1101448) chr6 23024966 23024966 C T het . 2 +intergenic LOC105374972(dist=355632),NRSN1(dist=1052629) chr6 23073785 23073785 T C het . 2 +intergenic LOC105374972(dist=424402),NRSN1(dist=983859) chr6 23142555 23142555 - A het . 2 +intergenic LOC105374972(dist=755282),NRSN1(dist=652979) chr6 23473435 23473435 G A het . 2 +intergenic LOC105374972(dist=943792),NRSN1(dist=464469) chr6 23661945 23661945 G A het . 2 +intergenic LOC105374972(dist=954184),NRSN1(dist=454077) chr6 23672337 23672337 G T het . 2 +intergenic LOC105374972(dist=970493),NRSN1(dist=437768) chr6 23688646 23688646 A G het . 2 +intergenic LOC105374972(dist=970497),NRSN1(dist=437764) chr6 23688650 23688650 A T het . 2 +intergenic LOC105374972(dist=1035397),NRSN1(dist=372864) chr6 23753550 23753550 T C het . 2 +intergenic LOC105374972(dist=1069476),NRSN1(dist=338785) chr6 23787629 23787629 G A het . 2 +intergenic LOC105374972(dist=1222422),NRSN1(dist=185839) chr6 23940575 23940575 C T het . 1 +intergenic LOC105374972(dist=1243952),NRSN1(dist=164309) chr6 23962105 23962105 T G het . 2 +intergenic LOC105374972(dist=1256097),NRSN1(dist=152164) chr6 23974250 23974250 A G het . 1 +intergenic LOC105374972(dist=1317731),NRSN1(dist=90530) chr6 24035884 24035884 A C het . 2 +intergenic LOC105374972(dist=1317735),NRSN1(dist=90526) chr6 24035888 24035888 A C het . 2 +intronic NRSN1 chr6 24134510 24134510 C A het . 6 +exonic NRSN1 chr6 24134673 24134673 T G het . 20 +intronic DCDC2 chr6 24203535 24203535 C A het . 2 +intronic DCDC2 chr6 24208567 24208567 C G het . 1 +exonic MRS2 chr6 24411018 24411018 A G het . 17 +intronic MRS2 chr6 24412431 24412431 - T het . 5 +intronic MRS2 chr6 24418581 24418581 A T het . 5 +intronic GPLD1 chr6 24477979 24477979 - A het . 3 +intronic GPLD1 chr6 24480593 24480593 T G het . 3 +upstream ALDH5A1(dist=170) chr6 24495027 24495027 C T het . 1 +intronic ALDH5A1 chr6 24515368 24515368 G C het . 12 +intronic KIAA0319 chr6 24629772 24629772 A G het . 3 +intronic TDP2 chr6 24651320 24651320 C G het . 6 +intronic TDP2 chr6 24654443 24654443 C T het . 2 +intronic ACOT13 chr6 24682891 24682891 T C het . 3 +intergenic C6orf62(dist=1589),GMNN(dist=54167) chr6 24720992 24720992 C - het . 3 +intronic GMNN chr6 24778431 24778431 T G het . 2 +intronic RIPOR2 chr6 24809853 24809853 C T het . 4 +intronic RIPOR2 chr6 24809874 24809874 A C het . 8 +intronic RIPOR2 chr6 24809881 24809881 T A het . 9 +intronic RIPOR2 chr6 24836161 24836161 C A het . 4 +intronic RIPOR2 chr6 24869545 24869546 TT - het . 2 +intergenic RIPOR2(dist=23153),CMAHP(dist=15626) chr6 25065669 25065669 A G het . 1 +ncRNA_exonic CMAHP chr6 25081928 25081928 T C het . 9 +ncRNA_intronic CMAHP chr6 25092335 25092335 A G het . 4 +ncRNA_intronic CMAHP chr6 25092425 25092425 T C het . 2 +ncRNA_exonic CMAHP chr6 25115225 25115225 T C het . 12 +ncRNA_intronic CMAHP chr6 25115527 25115527 G T het . 2 +intergenic CMAHP(dist=87328),LOC101928663(dist=19198) chr6 25225948 25225948 T C het . 1 +intergenic LOC101928663(dist=16215),CARMIL1(dist=1806) chr6 25277850 25277850 A - het . 2 +UTR5 CARMIL1(NM_017640:c.-184del-,NM_001173977:c.-184del-) chr6 25279840 25279840 T - het . 3 +intronic CARMIL1 chr6 25387369 25387369 T A het . 2 +intronic CARMIL1 chr6 25426641 25426643 TTT - het . 8 +intronic CARMIL1 chr6 25554148 25554148 T G het . 9 +intronic CARMIL1 chr6 25554180 25554180 C G het . 10 +exonic SCGN chr6 25652682 25652682 C T het . 12 +intronic SCGN chr6 25689379 25689380 TT - het . 10 +intronic SLC17A2 chr6 25924158 25924158 T C het . 6 +intergenic SLC17A2(dist=24387),TRIM38(dist=7576) chr6 25955341 25955341 - T het . 2 +UTR3 HIST1H3B(NM_003537:c.*10C>T) chr6 26031868 26031868 G A het . 8 +exonic HIST1H2AB chr6 26033641 26033641 G A het . 21 +exonic HIST1H1C chr6 26056549 26056549 A G het . 20 +intergenic HIST1H1C(dist=27205),LOC108783645(dist=2614) chr6 26083904 26083904 C T het . 3 +upstream HIST1H4C(dist=119) chr6 26104057 26104057 T C het . 1 +intergenic HIST1H1T(dist=12638),HIST1H2BC(dist=2693) chr6 26121002 26121002 C T het . 2 +exonic HIST1H4H chr6 26285503 26285503 C T het . 16 +intergenic HIST1H4H(dist=36746),BTN3A2(dist=42914) chr6 26322473 26322473 G A het . 22 +intronic BTN3A1 chr6 26410177 26410177 C A het . 30 +downstream BTN2A3P(dist=202) chr6 26431018 26431018 C A het . 8 +exonic ABT1 chr6 26597333 26597333 A G het . 31 +exonic ABT1 chr6 26598691 26598691 C A het . 12 +ncRNA_intronic GUSBP2 chr6 26864175 26864175 A G het . 2 +ncRNA_intronic GUSBP2 chr6 26864470 26864470 C T het . 18 +ncRNA_intronic GUSBP2 chr6 26865758 26865758 T C het . 3 +ncRNA_intronic GUSBP2 chr6 26865770 26865770 C A het . 3 +ncRNA_intronic GUSBP2 chr6 26868013 26868013 C G het . 21 +ncRNA_intronic GUSBP2 chr6 26870631 26870631 G T het . 2 +intergenic PRSS16(dist=26755),POM121L2(dist=25688) chr6 27251154 27251154 T - het . 8 +intergenic VN1R10P(dist=2404),ZNF204P(dist=29457) chr6 27296145 27296145 T A het . 2 +intronic ZNF184 chr6 27435707 27435707 G A het . 9 +intergenic ZNF184(dist=76380),LINC01012(dist=144536) chr6 27517277 27517278 AA - het . 2 +intergenic ZNF184(dist=76397),LINC01012(dist=144520) chr6 27517294 27517294 A T het . 2 +intergenic LINC01012(dist=28179),LOC100131289(dist=23343) chr6 27706180 27706180 G A het . 4 +upstream ZSCAN9(dist=684) chr6 28192345 28192345 C A het . 1 +intronic PGBD1 chr6 28258864 28258867 AAAT - het . 2 +upstream LINC00336(dist=453) chr6 33561568 33561568 - TTTTA het . 2 +intronic ITPR3 chr6 33626717 33626717 T C het . 3 +exonic ITPR3 chr6 33644663 33644663 G A het . 22 +exonic ITPR3 chr6 33653486 33653486 G A het . 5 +intronic ITPR3 chr6 33654897 33654897 T C het . 16 +exonic ITPR3 chr6 33659472 33659472 C G het . 14 +intronic ITPR3 chr6 33659536 33659536 A G het . 4 +intronic ITPR3 chr6 33659557 33659557 C T het . 3 +intronic ITPR3 chr6 33660411 33660411 T C het . 3 +intergenic UQCC2(dist=1848),IP6K3(dist=8065) chr6 33681376 33681378 TTT - het . 2 +exonic IP6K3 chr6 33695892 33695892 C A het . 8 +exonic IP6K3 chr6 33695997 33695997 G A het . 20 +intronic LEMD2 chr6 33749151 33749152 AT GA het . 4 +intergenic MLN(dist=79142),LINC01016(dist=6353) chr6 33850935 33850935 G C het . 17 +intergenic GRM4(dist=35573),HMGA1(dist=45605) chr6 34158972 34158972 A T het . 3 +intronic SMIM29 chr6 34214994 34214994 - TC het . 6 +intergenic SMIM29(dist=7424),RPS10-NUDT3(dist=30664) chr6 34224309 34224309 C A het . 2 +intronic RPS10-NUDT3 chr6 34363998 34363999 AG - het . 3 +intergenic RPS10-NUDT3(dist=10491),PACSIN1(dist=29445) chr6 34404393 34404393 C T het . 2 +intergenic LOC101929243(dist=14190),SNRPC(dist=45425) chr6 34679438 34679446 TTTCTTTTC - het . 2 +intronic ANKS1A chr6 34949451 34949451 C T het . 1 +intronic ANKS1A chr6 35027814 35027814 G C het . 5 +intronic TCP11 chr6 35104007 35104007 C A het . 11 +exonic SCUBE3 chr6 35199524 35199524 C A het . 7 +intronic SCUBE3 chr6 35201858 35201858 T C het . 2 +intronic ZNF76 chr6 35259261 35259261 C G het . 2 +UTR3 DEF6(NM_022047:c.*259T>C) chr6 35289446 35289446 T C het . 1 +exonic FANCE chr6 35423662 35423662 A C het . 15 +intronic FANCE chr6 35424268 35424268 A G het . 5 +intronic FANCE chr6 35427374 35427374 C A het . 11 +intronic FANCE chr6 35427393 35427393 C A het . 16 +intronic TULP1 chr6 35477303 35477303 T C het . 3 +intronic TULP1 chr6 35477804 35477804 G A het . 7 +intergenic TULP1(dist=47394),FKBP5(dist=13253) chr6 35528109 35528109 - A het . 6 +intergenic ARMC12(dist=17361),CLPSL2(dist=10320) chr6 35734051 35734051 C A het . 2 +UTR3 CLPSL1(NM_001010886:c.*58C>A) chr6 35755845 35755845 C A het . 30 +intronic CLPSL1 chr6 35757652 35757652 G C het . 2 +intronic CLPSL1 chr6 35759872 35759872 A G het . 1 +splicing SRPK1(NM_003137:exon14:c.1621-2->T) chr6 35810383 35810383 - A het . 9 +intronic SRPK1 chr6 35833803 35833803 C A het . 2 +intergenic SRPK1(dist=15074),SLC26A8(dist=7260) chr6 35904031 35904031 A C het . 2 +intronic SLC26A8 chr6 35961977 35961977 C T het . 1 +intronic MAPK14 chr6 36075219 36075219 A C het . 2 +exonic BRPF3 chr6 36169116 36169117 CC TT het . 6 +intronic C6orf222 chr6 36293014 36293014 C A het . 9 +intronic PXT1 chr6 36359696 36359698 TTA - het . 15 +intronic PXT1 chr6 36380435 36380435 - A het . 3 +intronic KCTD20 chr6 36452604 36452604 A - het . 7 +intronic STK38 chr6 36465716 36465718 TTT - het . 4 +intronic STK38 chr6 36466367 36466369 TTT - het . 9 +intronic STK38 chr6 36490653 36490653 - AAG het . 2 +intergenic STK38(dist=43553),SRSF3(dist=3244) chr6 36558846 36558846 - ACA het . 2 +intergenic SRSF3(dist=15096),MIR3925(dist=2873) chr6 36587340 36587340 G A het . 3 +downstream PANDAR(dist=167) chr6 36641231 36641231 T G het . 2 +exonic C6orf89 chr6 36867310 36867310 G A het . 39 +downstream PI16(dist=592) chr6 36933205 36933206 TC - het . 2 +exonic FGD2 chr6 36993613 36993613 G A het . 19 +intergenic FGD2(dist=69624),PIM1(dist=71453) chr6 37066469 37066469 A - het . 3 +intergenic FGD2(dist=69628),PIM1(dist=71449) chr6 37066473 37066473 A C het . 3 +intergenic FGD2(dist=69632),PIM1(dist=71445) chr6 37066477 37066477 A C het . 3 +intergenic FGD2(dist=69641),PIM1(dist=71436) chr6 37066486 37066486 A C het . 3 +intergenic FGD2(dist=84477),PIM1(dist=56600) chr6 37081322 37081322 C A het . 2 +exonic PIM1 chr6 37138220 37138220 C G het . 20 +intronic PIM1 chr6 37138866 37138866 A C het . 11 +intergenic PIM1(dist=6528),TMEM217(dist=30222) chr6 37149732 37149732 T C het . 2 +intergenic TBC1D22B(dist=19152),RNF8(dist=1850) chr6 37319898 37319898 A G het . 3 +intronic RNF8 chr6 37328994 37328994 C A het . 5 +intergenic MDGA1(dist=15339),ZFAND3(dist=106202) chr6 37681105 37681105 A C het . 2 +intergenic MDGA1(dist=55064),ZFAND3(dist=66477) chr6 37720830 37720830 C T het . 2 +intronic ZFAND3 chr6 38050248 38050248 C A het . 9 +intronic ZFAND3 chr6 38072906 38072906 G A het . 1 +intronic BTBD9 chr6 38231857 38231857 G A het . 2 +intronic BTBD9 chr6 38297844 38297844 A T het . 2 +intronic BTBD9 chr6 38330861 38330861 T C het . 1 +intronic BTBD9 chr6 38348685 38348685 T C het . 2 +intronic BTBD9 chr6 38455460 38455460 - GAAAA het . 2 +intronic BTBD9 chr6 38510070 38510070 C T het . 3 +intronic DNAH8 chr6 38729458 38729458 T C het . 3 +intronic DNAH8 chr6 38802488 38802488 T G het . 11 +intronic DNAH8 chr6 38820758 38820758 G A het . 3 +intronic DNAH8 chr6 38822905 38822905 A T het . 2 +intronic DNAH8 chr6 38843279 38843280 CC TT het . 16 +intronic DNAH8 chr6 38843283 38843283 C T het . 16 +ncRNA_intronic LOC100131047 chr6 38913177 38913177 A G het . 2 +intronic DNAH8 chr6 38939249 38939249 T - het . 6 +intronic DNAH8 chr6 38939265 38939265 G T het . 6 +intronic GLP1R chr6 39046981 39046981 T C het . 13 +intergenic SAYSD1(dist=50235),KCNK5(dist=23550) chr6 39133197 39133197 T - het . 2 +UTR3 KIF6(NM_001289021:c.*108G>T,NM_145027:c.*108G>T,NM_001289020:c.*108G>T,NM_001289024:c.*108G>T) chr6 39304200 39304200 C A het . 6 +intronic KIF6 chr6 39644096 39644096 T - het . 2 +intronic DAAM2 chr6 39855427 39855427 C T het . 12 +UTR3 MOCS1(NM_005943:c.*1530G>A,NM_001075098:c.*1530G>A,NM_001358530:c.*762G>A,NM_001358534:c.*1530G>A,NM_001358533:c.*1530G>A,NM_001358531:c.*762G>A,NM_001358529:c.*762G>A) chr6 39873371 39873371 C T het . 32 +intergenic MOCS1(dist=343996),LINC00951(dist=65798) chr6 40246286 40246286 A T het . 1 +exonic LRFN2 chr6 40360357 40360357 G T het . 11 +intronic LRFN2 chr6 40434906 40434908 GAT - het . 3 +intergenic LRFN2(dist=166747),LOC101929555(dist=124673) chr6 40721950 40721952 ATG - het . 3 +exonic OARD1 chr6 41037832 41037832 G A het . 16 +intronic TREML4 chr6 41197434 41197435 TG GT het . 3 +intronic TREML4 chr6 41198909 41198909 T C het . 7 +ncRNA_exonic TREML5P chr6 41217191 41217191 - GAA het . 13 +ncRNA_exonic TREML5P chr6 41217258 41217258 C T het . 9 +intergenic TREM1(dist=44407),NCR2(dist=4638) chr6 41298890 41298890 A C het . 2 +intergenic TREM1(dist=44411),NCR2(dist=4634) chr6 41298894 41298894 G A het . 2 +intergenic NCR2(dist=37338),LINC01276(dist=114219) chr6 41355963 41355963 C T het . 1 +intergenic NCR2(dist=95864),LINC01276(dist=55693) chr6 41414489 41414489 C A het . 1 +intergenic NCR2(dist=129466),LINC01276(dist=22089) chr6 41448091 41448093 AAA - het . 2 +intergenic NCR2(dist=150555),LINC01276(dist=1002) chr6 41469180 41469180 C G het . 2 +intronic FOXP4 chr6 41562514 41562514 C T het . 2 +intergenic FOXP4(dist=4778),MDFI(dist=30015) chr6 41574900 41574900 T C het . 2 +intronic TFEB chr6 41654806 41654806 A C het . 17 +exonic FRS3 chr6 41743258 41743258 C T het . 5 +upstream FRS3,PRICKLE4(dist=148) chr6 41748352 41748352 A G het . 6 +exonic PRICKLE4 chr6 41754576 41754576 C T het . 5 +UTR3 USP49(NM_001286554:c.*3281A>C) chr6 41760990 41760990 T G het . 1 +UTR5 MED20(NM_001305457:c.-71G>C,NM_001305455:c.-11584G>C,NM_004275:c.-71G>C) chr6 41888827 41888827 C G het . 3 +intronic TAF8 chr6 42036395 42036395 A C het . 4 +intronic TAF8 chr6 42039082 42039082 T A het . 3 +exonic C6orf132 chr6 42074288 42074288 C G het . 14 +intronic C6orf132 chr6 42094553 42094553 C T het . 5 +intronic C6orf132 chr6 42094614 42094614 A G het . 3 +intronic MRPS10 chr6 42176744 42176744 G - het . 9 +intronic MRPS10 chr6 42176749 42176749 T C het . 9 +intronic MRPS10 chr6 42179788 42179788 T C het . 7 +exonic TRERF1 chr6 42236973 42236973 C T het . 10 +intronic TRERF1 chr6 42250103 42250103 T G het . 1 +intergenic TRERF1(dist=107917),UBR2(dist=4054) chr6 42527706 42527706 T C het . 2 +intronic UBR2 chr6 42607771 42607771 T A het . 7 +intronic UBR2 chr6 42614559 42614562 AGAG - het . 2 +intronic UBR2 chr6 42638355 42638359 ACATA - het . 6 +intronic UBR2 chr6 42650766 42650766 - T het . 12 +downstream PRPH2(dist=839) chr6 42663494 42663494 A C het . 2 +intronic PRPH2 chr6 42680990 42680990 A G het . 1 +intergenic ATP6V0CP3(dist=1853),TBCC(dist=14449) chr6 42697785 42697785 G T het . 3 +exonic BICRAL chr6 42830257 42830257 C A het . 12 +intronic CNPY3,CNPY3-GNMT chr6 42904274 42904274 G T het . 2 +intronic CNPY3-GNMT chr6 42924489 42924489 A - het . 14 +exonic PEX6 chr6 42932200 42932200 G T het . 15 +exonic PEX6 chr6 42932202 42932202 C T het . 15 +exonic PEX6 chr6 42946178 42946178 C A het . 26 +upstream PEX6(dist=32) chr6 42947013 42947013 G C het . 6 +intronic PPP2R5D chr6 42976525 42976525 C A het . 11 +intronic KLHDC3 chr6 42986567 42986567 C A het . 4 +intronic CUL7 chr6 43008616 43008616 C A het . 22 +exonic CUL7 chr6 43014298 43014299 TT CC het . 19 +intronic PTK7 chr6 43108768 43108768 A C het . 1 +exonic CUL9 chr6 43155718 43155718 G A het . 11 +intronic TTBK1 chr6 43220818 43220818 T C het . 2 +intronic SLC22A7 chr6 43269029 43269029 A C het . 2 +exonic ZNF318 chr6 43322860 43322860 C A het . 22 +intronic POLR1C,XPO5 chr6 43501580 43501580 - A het . 9 +intronic XPO5 chr6 43533306 43533306 A - het . 8 +exonic GTPBP2 chr6 43592336 43592336 G A het . 25 +intronic MAD2L1BP chr6 43597584 43597584 C A het . 7 +intronic VEGFA chr6 43748434 43748434 C T het . 17 +intronic VEGFA chr6 43748643 43748643 T C het . 12 +intronic MRPL14 chr6 44081987 44081987 T C het . 3 +intronic TMEM63B chr6 44102853 44102853 C T het . 8 +intronic TMEM63B chr6 44107365 44107365 G A het . 3 +intronic TMEM63B chr6 44117727 44117727 A G het . 5 +intronic CAPN11 chr6 44141475 44141475 C A het . 2 +intronic CAPN11 chr6 44145233 44145233 T C het . 2 +intronic CAPN11 chr6 44148568 44148568 C T het . 7 +UTR5 SLC29A1(NM_001078175:c.-3797A>G,NM_001304463:c.-50A>G) chr6 44191254 44191254 A G het . 4 +intronic SPATS1 chr6 44328180 44328180 C A het . 19 +intronic SPATS1 chr6 44337617 44337617 - ATAAA het . 5 +intronic SUPT3H chr6 44896638 44896642 AAAAG - het . 3 +intronic SUPT3H chr6 44988149 44988149 C T het . 2 +intronic SUPT3H chr6 45082169 45082169 A T het . 1 +intronic SUPT3H chr6 45109175 45109175 G A het . 2 +intronic SUPT3H chr6 45168053 45168053 T C het . 2 +intronic RUNX2 chr6 45372012 45372012 G A het . 2 +intronic RUNX2 chr6 45514507 45514507 C T het . 16 +intergenic RUNX2(dist=171229),CLIC5(dist=176142) chr6 45690048 45690048 T A het . 2 +intronic CLIC5 chr6 45918969 45918969 C T het . 1 +intronic ENPP5 chr6 46133092 46133092 C A het . 10 +intronic RCAN2 chr6 46222147 46222147 G A het . 1 +ncRNA_intronic LOC101926898 chr6 46488307 46488307 A T het . 2 +ncRNA_intronic LOC101926898 chr6 46488308 46488308 - A het . 2 +UTR5 CYP39A1(NM_016593:c.-78C>G,NM_001278739:c.-14710C>G,NM_001278738:c.-78C>G) chr6 46620397 46620397 G C het . 4 +intronic SLC25A27 chr6 46625274 46625274 A G het . 3 +intronic SLC25A27 chr6 46636313 46636313 T C het . 3 +exonic TDRD6 chr6 46658548 46658548 C A het . 29 +intronic ADGRF5 chr6 46852932 46852934 AAA - het . 2 +intronic ADGRF5 chr6 46880296 46880296 G A het . 1 +intronic ADGRF1 chr6 46968168 46968168 C T het . 16 +intronic ADGRF1 chr6 46968178 46968178 T G het . 14 +intronic ADGRF1 chr6 46988239 46988240 AA - het . 10 +intergenic ADGRF1(dist=17584),TNFRSF21(dist=171580) chr6 47027683 47027683 - A het . 2 +intergenic TNFRSF21(dist=119496),CD2AP(dist=48346) chr6 47397179 47397179 C T het . 1 +UTR5 CD2AP(NM_012120:c.-54T>A) chr6 47445927 47445927 T A het . 18 +intronic CD2AP chr6 47547070 47547070 - A het . 21 +exonic CD2AP chr6 47567129 47567129 C A het . 34 +intergenic CD2AP(dist=2245),ADGRF2(dist=27085) chr6 47597241 47597241 C A het . 2 +intronic ADGRF2 chr6 47646932 47646932 C T het . 5 +exonic ADGRF2 chr6 47649315 47649315 C A het . 24 +intronic ADGRF2 chr6 47661249 47661249 G - het . 8 +intronic ADGRF2 chr6 47661250 47661250 G A het . 8 +intronic ADGRF2 chr6 47661261 47661261 C - het . 8 +intronic ADGRF2 chr6 47661261 47661261 C A het . 4 +exonic ADGRF4 chr6 47682009 47682009 G T het . 28 +intronic PTCHD4 chr6 47956763 47956763 C T het . 1 +intergenic PTCHD4(dist=42535),MUT(dist=1319113) chr6 48078960 48078960 A C het . 2 +intergenic PTCHD4(dist=74415),MUT(dist=1287233) chr6 48110840 48110840 A - het . 2 +intergenic PTCHD4(dist=146122),MUT(dist=1215523) chr6 48182547 48182550 TTTA - het . 20 +intergenic PTCHD4(dist=503126),MUT(dist=858522) chr6 48539551 48539551 C A het . 2 +intergenic PTCHD4(dist=724013),MUT(dist=637635) chr6 48760438 48760438 A C het . 2 +intergenic PTCHD4(dist=839497),MUT(dist=522151) chr6 48875922 48875922 - A het . 2 +intergenic PTCHD4(dist=882756),MUT(dist=478892) chr6 48919181 48919181 T G het . 1 +intergenic PTCHD4(dist=955593),MUT(dist=406054) chr6 48992018 48992019 TT - het . 3 +intergenic PTCHD4(dist=1205082),MUT(dist=156566) chr6 49241507 49241507 T - het . 7 +intergenic PTCHD4(dist=1217855),MUT(dist=143793) chr6 49254280 49254280 C T het . 2 +intergenic PTCHD4(dist=1291009),MUT(dist=70639) chr6 49327434 49327434 T C het . 3 +intergenic PTCHD4(dist=1334712),MUT(dist=26936) chr6 49371137 49371137 T G het . 1 +intronic MUT chr6 49415352 49415352 A - het . 15 +intronic MUT chr6 49415375 49415375 A T het . 21 +intronic MUT chr6 49423957 49423957 A - het . 31 +intronic GLYATL3 chr6 49477742 49477742 C T het . 2 +intergenic RHAG(dist=23284),CRISP2(dist=32200) chr6 49627871 49627871 G A het . 2 +intronic CRISP2 chr6 49664863 49664863 C T het . 2 +intergenic DEFB112(dist=143917),TFAP2D(dist=520973) chr6 50160281 50160284 AAAG - het . 2 +intergenic DEFB112(dist=499616),TFAP2D(dist=165277) chr6 50515980 50515980 T C het . 2 +intronic TFAP2D chr6 50681818 50681821 TTTT - het . 4 +intronic TFAP2B chr6 50805492 50805492 A - het . 5 +UTR3 TFAP2B(NM_003221:c.*10A>T) chr6 50811115 50811115 A T het . 23 +UTR3 TFAP2B(NM_003221:c.*136T>A) chr6 50811241 50811241 T A het . 10 +intergenic TFAP2B(dist=9478),PKHD1(dist=655341) chr6 50824804 50824804 T A het . 2 +intergenic TFAP2B(dist=141303),PKHD1(dist=523516) chr6 50956629 50956629 A - het . 2 +intergenic TFAP2B(dist=309914),PKHD1(dist=354905) chr6 51125240 51125240 C T het . 2 +intergenic TFAP2B(dist=359331),PKHD1(dist=305488) chr6 51174657 51174657 G A het . 2 +intergenic TFAP2B(dist=369453),PKHD1(dist=295366) chr6 51184779 51184779 - GTTT het . 6 +intronic PKHD1 chr6 51489948 51489948 G C het . 2 +exonic PKHD1 chr6 51524009 51524009 G A het . 13 +UTR3 PKHD1(NM_170724:c.*66T>A) chr6 51586718 51586718 A T het . 15 +exonic PKHD1 chr6 51637561 51637561 T C het . 27 +intronic PKHD1 chr6 51696056 51696056 A G het . 6 +intronic PKHD1 chr6 51696074 51696074 G A het . 5 +intronic PKHD1 chr6 51732618 51732618 C T het . 23 +exonic PKHD1 chr6 51776634 51776634 C A het . 38 +intronic PKHD1 chr6 51924952 51924952 C A het . 8 +intronic PKHD1 chr6 51930887 51930887 A - het . 20 +exonic PKHD1 chr6 51947237 51947237 G A het . 24 +exonic PKHD1 chr6 51947248 51947248 C A het . 27 +intergenic LINCMD1(dist=21361),IL17A(dist=13991) chr6 52037182 52037182 A T het . 3 +intergenic IL17F(dist=11993),MCM3(dist=7521) chr6 52121291 52121291 T G het . 1 +intergenic IL17F(dist=12277),MCM3(dist=7237) chr6 52121575 52121575 C A het . 3 +intergenic IL17F(dist=12371),MCM3(dist=7143) chr6 52121669 52121669 - TTTTG het . 3 +intergenic MCM3(dist=7516),PAQR8(dist=69731) chr6 52157195 52157195 - A het . 2 +intergenic MCM3(dist=14734),PAQR8(dist=62513) chr6 52164413 52164413 G T het . 2 +intergenic MCM3(dist=74496),PAQR8(dist=2751) chr6 52224175 52224175 A G het . 3 +intronic EFHC1 chr6 52318421 52318422 AA - het . 7 +UTR3 EFHC1(NM_018100:c.*1315delA,NM_001172420:c.*1315delA) chr6 52358454 52358454 A - het . 29 +UTR3 EFHC1(NM_018100:c.*1413C>A,NM_001172420:c.*1413C>A) chr6 52358552 52358552 C A het . 47 +UTR3 EFHC1(NM_018100:c.*1876T>G,NM_001172420:c.*1876T>G) chr6 52359015 52359015 T G het . 22 +intronic GSTA2 chr6 52620013 52620013 - T het . 6 +intronic GSTA5 chr6 52697890 52697890 C T het . 4 +intronic GSTA5 chr6 52698860 52698860 G - het . 15 +exonic GSTA5 chr6 52701143 52701143 C T het . 21 +intergenic GSTA5(dist=28002),GSTA3(dist=22544) chr6 52738895 52738895 C A het . 32 +intronic GSTA4 chr6 52848869 52848869 G A het . 2 +intronic GSTA4 chr6 52848891 52848891 - TA het . 2 +intronic GSTA4 chr6 52848905 52848905 C T het . 1 +intronic GSTA4 chr6 52849481 52849481 - T het . 6 +intronic FBXO9 chr6 52961186 52961186 C T het . 2 +downstream FBXO9(dist=645) chr6 52966315 52966315 T C het . 1 +exonic GCM1 chr6 52993525 52993525 C A het . 14 +upstream GCM1(dist=765) chr6 53014389 53014389 C T het . 1 +intergenic GCM1(dist=35088),ELOVL5(dist=83484) chr6 53048712 53048712 G C het . 1 +intergenic GCM1(dist=78588),ELOVL5(dist=39984) chr6 53092212 53092212 T C het . 2 +intronic ELOVL5 chr6 53189068 53189068 A G het . 2 +intergenic ELOVL5(dist=11126),GCLC(dist=137037) chr6 53225103 53225103 A C het . 3 +UTR3 GCLC(NM_001197115:c.*66_*63delAGCC,NM_001498:c.*66_*63delAGCC) chr6 53363488 53363491 GGCT - het . 13 +intronic GCLC chr6 53363784 53363784 C T het . 24 +intronic GCLC chr6 53363810 53363810 T - het . 17 +intronic GCLC chr6 53370395 53370395 C T het . 10 +intronic GCLC chr6 53373624 53373624 - CTCCAC het . 17 +UTR5 GCLC(NM_001197115:c.-9_-8insAGG,NM_001498:c.-9_-8insAGG) chr6 53409451 53409451 - CCT het . 16 +intergenic GCLC(dist=6880),LOC101927136(dist=9280) chr6 53416807 53416807 - T het . 2 +intronic LRRC1 chr6 53718362 53718362 T C het . 1 +intronic LRRC1 chr6 53767303 53767303 A G het . 6 +intergenic MLIP-IT1(dist=1278),MLIP(dist=10486) chr6 53873228 53873228 G A het . 1 +intronic MLIP chr6 53987272 53987272 A G het . 3 +intronic MLIP chr6 53987279 53987279 C G het . 3 +intronic MLIP chr6 54050219 54050219 G A het . 1 +intronic MLIP chr6 54086520 54086520 - A het . 2 +intronic MLIP chr6 54086526 54086526 T C het . 2 +intergenic TINAG(dist=94883),FAM83B(dist=361736) chr6 54349833 54349833 G A het . 2 +intergenic TINAG(dist=159370),FAM83B(dist=297247) chr6 54414320 54414322 ACC - het . 3 +intergenic TINAG(dist=225571),FAM83B(dist=231048) chr6 54480521 54480521 A G het . 2 +intergenic TINAG(dist=287729),FAM83B(dist=168890) chr6 54542679 54542679 G T het . 2 +intergenic TINAG(dist=336568),FAM83B(dist=120051) chr6 54591518 54591518 C T het . 4 +exonic FAM83B chr6 54804527 54804527 C A het . 5 +intergenic FAM83B(dist=112881),HCRTR2(dist=48480) chr6 54922778 54922778 T - het . 2 +intronic HCRTR2 chr6 55070638 55070638 G A het . 1 +intronic HCRTR2 chr6 55113347 55113347 T C het . 13 +intronic HCRTR2 chr6 55113350 55113350 G A het . 14 +exonic HCRTR2 chr6 55113547 55113547 C A het . 29 +intronic HCRTR2 chr6 55142458 55142458 - T het . 9 +intronic GFRAL chr6 55203266 55203266 T C het . 2 +intronic GFRAL chr6 55223962 55223962 - TCTA het . 13 +intronic GFRAL chr6 55263789 55263789 C T het . 5 +intergenic HMGCLL1(dist=70568),BMP5(dist=103871) chr6 55514580 55514580 T C het . 1 +intergenic HMGCLL1(dist=125399),BMP5(dist=49040) chr6 55569411 55569411 G T het . 2 +intergenic HMGCLL1(dist=125408),BMP5(dist=49031) chr6 55569420 55569420 C G het . 1 +intergenic HMGCLL1(dist=125418),BMP5(dist=49021) chr6 55569430 55569430 A C het . 1 +intergenic HMGCLL1(dist=127877),BMP5(dist=46562) chr6 55571889 55571889 T C het . 1 +intronic BMP5 chr6 55629455 55629455 C T het . 3 +UTR5 BMP5(NM_001329756:c.-49_-50delTT,NM_001329754:c.-49_-50delTT,NM_021073:c.-49_-50delTT) chr6 55739712 55739713 AA - het . 12 +intronic COL21A1 chr6 55966548 55966548 - G het . 5 +intronic COL21A1 chr6 55966549 55966549 - GTTG het . 5 +intronic COL21A1 chr6 55977464 55977464 T C het . 4 +intronic COL21A1 chr6 55977485 55977485 C T het . 3 +intronic COL21A1 chr6 56037646 56037646 A G het . 3 +intronic COL21A1 chr6 56047316 56047316 T G het . 18 +exonic COL21A1 chr6 56047341 56047341 C T het . 20 +intronic COL21A1 chr6 56050798 56050798 G A het . 2 +intronic COL21A1 chr6 56141614 56141614 - T het . 11 +intronic DST chr6 56412987 56412987 A T het . 2 +exonic DST chr6 56437567 56437567 G A het . 19 +intronic DST chr6 56471181 56471181 C A het . 36 +intronic DST chr6 56471487 56471487 C A het . 34 +intronic DST chr6 56476182 56476182 - AAGTA het . 11 +intronic DST chr6 56687833 56687833 G C het . 4 +intergenic BEND6(dist=2799),KIAA1586(dist=16389) chr6 56894941 56894941 G - het . 4 +intergenic BEND6(dist=3994),KIAA1586(dist=15194) chr6 56896136 56896136 A C het . 2 +ncRNA_intronic ZNF451-AS1 chr6 56989203 56989204 CT - het . 25 +exonic RAB23 chr6 57061345 57061345 A C het . 36 +intergenic RAB23(dist=7181),LOC100506188(dist=31029) chr6 57094293 57094293 - A het . 2 +intronic PRIM2 chr6 57207579 57207579 G A het . 3 +intronic PRIM2 chr6 57207619 57207619 A G het . 3 +intronic PRIM2 chr6 57211861 57211861 G A het . 2 +intronic PRIM2 chr6 57212798 57212798 T G het . 2 +intronic PRIM2 chr6 57213545 57213545 C T het . 3 +intronic PRIM2 chr6 57213782 57213782 A G het . 2 +intronic PRIM2 chr6 57213785 57213785 T C het . 2 +intronic PRIM2 chr6 57215687 57215687 G A het . 2 +intronic PRIM2 chr6 57220117 57220117 T A het . 1 +intronic PRIM2 chr6 57221035 57221035 A G het . 2 +intronic PRIM2 chr6 57221040 57221041 TG CC het . 2 +intronic PRIM2 chr6 57222268 57222268 C T het . 2 +intronic PRIM2 chr6 57222829 57222829 G A het . 2 +intronic PRIM2 chr6 57223152 57223152 T C het . 2 +intronic PRIM2 chr6 57230667 57230668 GG TT het . 2 +intronic PRIM2 chr6 57230670 57230670 A C het . 2 +intronic PRIM2 chr6 57231732 57231732 T C het . 2 +intronic PRIM2 chr6 57231765 57231765 T A het . 2 +intronic PRIM2 chr6 57235130 57235130 C A het . 2 +intronic PRIM2 chr6 57239491 57239491 T G het . 2 +intronic PRIM2 chr6 57241605 57241605 T G het . 4 +intronic PRIM2 chr6 57242529 57242529 - T het . 2 +intronic PRIM2 chr6 57242548 57242548 C T het . 2 +intronic PRIM2 chr6 57242685 57242686 AT GC het . 2 +intronic PRIM2 chr6 57244492 57244492 T C het . 4 +intronic PRIM2 chr6 57244509 57244509 T G het . 8 +intronic PRIM2 chr6 57244893 57244893 T C het . 8 +intronic PRIM2 chr6 57246581 57246581 T A het . 3 +intronic PRIM2 chr6 57246614 57246614 T C het . 4 +intronic PRIM2 chr6 57246708 57246708 G T het . 8 +intronic PRIM2 chr6 57246773 57246773 - AGG het . 15 +intronic PRIM2 chr6 57246785 57246785 A C het . 15 +intronic PRIM2 chr6 57246815 57246815 T C het . 17 +intronic PRIM2 chr6 57246826 57246826 C A het . 16 +intronic PRIM2 chr6 57247093 57247093 A T het . 9 +intronic PRIM2 chr6 57247108 57247108 G A het . 4 +intronic PRIM2 chr6 57251298 57251298 T C het . 5 +intronic PRIM2 chr6 57251333 57251333 A G het . 4 +intronic PRIM2 chr6 57254144 57254144 T C het . 2 +intronic PRIM2 chr6 57259118 57259118 G A het . 4 +intronic PRIM2 chr6 57259143 57259143 G T het . 4 +intronic PRIM2 chr6 57261515 57261515 T C het . 3 +intronic PRIM2 chr6 57261763 57261763 A G het . 2 +intronic PRIM2 chr6 57262585 57262585 G A het . 4 +intronic PRIM2 chr6 57265814 57265814 G T het . 2 +intronic PRIM2 chr6 57275283 57275283 C T het . 2 +intronic PRIM2 chr6 57279485 57279485 T C het . 1 +intronic PRIM2 chr6 57279510 57279510 A G het . 2 +intronic PRIM2 chr6 57279528 57279528 G T het . 2 +intronic PRIM2 chr6 57283997 57283997 C T het . 3 +intronic PRIM2 chr6 57284738 57284738 A C het . 2 +intronic PRIM2 chr6 57291991 57291991 A G het . 2 +intronic PRIM2 chr6 57292001 57292001 T A het . 3 +intronic PRIM2 chr6 57292043 57292043 T C het . 2 +intronic PRIM2 chr6 57292046 57292046 C A het . 2 +intronic PRIM2 chr6 57293587 57293587 A T het . 4 +intronic PRIM2 chr6 57295617 57295617 A C het . 2 +intronic PRIM2 chr6 57295638 57295638 G A het . 2 +intronic PRIM2 chr6 57295641 57295641 G A het . 2 +intronic PRIM2 chr6 57303382 57303382 T C het . 2 +intronic PRIM2 chr6 57304685 57304685 G A het . 3 +intronic PRIM2 chr6 57304720 57304720 G T het . 2 +intronic PRIM2 chr6 57313766 57313766 C T het . 2 +intronic PRIM2 chr6 57313785 57313785 G T het . 2 +intronic PRIM2 chr6 57314925 57314925 C T het . 4 +intronic PRIM2 chr6 57314929 57314929 C T het . 4 +intronic PRIM2 chr6 57314949 57314949 A G het . 3 +intronic PRIM2 chr6 57314951 57314951 C T het . 3 +intronic PRIM2 chr6 57326704 57326704 T C het . 2 +intronic PRIM2 chr6 57326709 57326709 T A het . 2 +intronic PRIM2 chr6 57328198 57328198 A C het . 3 +intronic PRIM2 chr6 57328422 57328422 C T het . 5 +intronic PRIM2 chr6 57328436 57328436 T A het . 4 +intronic PRIM2 chr6 57329413 57329413 G C het . 1 +intronic PRIM2 chr6 57335956 57335956 T C het . 2 +intronic PRIM2 chr6 57338013 57338013 G C het . 4 +intronic PRIM2 chr6 57341842 57341842 T C het . 2 +intronic PRIM2 chr6 57341884 57341884 T C het . 3 +intronic PRIM2 chr6 57344982 57344982 C G het . 4 +intronic PRIM2 chr6 57345002 57345002 G C het . 4 +intronic PRIM2 chr6 57345003 57345003 - ATTTA het . 4 +intronic PRIM2 chr6 57345026 57345026 G A het . 2 +intronic PRIM2 chr6 57345393 57345393 T C het . 2 +intronic PRIM2 chr6 57345425 57345425 T C het . 2 +intronic PRIM2 chr6 57345439 57345439 C T het . 2 +intronic PRIM2 chr6 57345456 57345456 A G het . 2 +intronic PRIM2 chr6 57345800 57345800 A G het . 3 +intronic PRIM2 chr6 57350270 57350270 C T het . 2 +intronic PRIM2 chr6 57353249 57353249 T A het . 1 +intronic PRIM2 chr6 57353257 57353257 G A het . 1 +intronic PRIM2 chr6 57353289 57353289 A G het . 2 +intronic PRIM2 chr6 57355174 57355174 T C het . 3 +intronic PRIM2 chr6 57355176 57355176 C T het . 3 +intronic PRIM2 chr6 57356955 57356955 G A het . 2 +intronic PRIM2 chr6 57356965 57356965 T C het . 2 +intronic PRIM2 chr6 57358569 57358569 T C het . 2 +intronic PRIM2 chr6 57358578 57358578 G T het . 3 +intronic PRIM2 chr6 57359558 57359558 A G het . 2 +intronic PRIM2 chr6 57360708 57360708 G C het . 2 +intronic PRIM2 chr6 57362762 57362762 G A het . 4 +intronic PRIM2 chr6 57364166 57364166 C A het . 4 +intronic PRIM2 chr6 57364180 57364180 T G het . 3 +intronic PRIM2 chr6 57366042 57366042 A G het . 2 +intronic PRIM2 chr6 57366045 57366045 G A het . 2 +intronic PRIM2 chr6 57366185 57366196 TTTTGTTTTTTT - het . 2 +intronic PRIM2 chr6 57366206 57366206 T C het . 2 +intronic PRIM2 chr6 57367539 57367539 G A het . 1 +intronic PRIM2 chr6 57367559 57367559 A G het . 2 +intronic PRIM2 chr6 57367580 57367580 T C het . 2 +intronic PRIM2 chr6 57367732 57367732 T C het . 1 +intronic PRIM2 chr6 57368899 57368899 T A het . 3 +intronic PRIM2 chr6 57369703 57369703 G A het . 3 +intronic PRIM2 chr6 57371939 57371939 G A het . 1 +intronic PRIM2 chr6 57371962 57371962 T A het . 1 +intronic PRIM2 chr6 57372104 57372104 T C het . 8 +intronic PRIM2 chr6 57372116 57372116 T C het . 12 +intronic PRIM2 chr6 57372126 57372126 C G het . 16 +intronic PRIM2 chr6 57372199 57372199 T C het . 17 +intronic PRIM2 chr6 57372436 57372436 G C het . 9 +intronic PRIM2 chr6 57372457 57372457 T - het . 9 +intronic PRIM2 chr6 57372480 57372480 A G het . 10 +intronic PRIM2 chr6 57372502 57372502 G A het . 10 +intronic PRIM2 chr6 57372510 57372510 T G het . 9 +intronic PRIM2 chr6 57372514 57372514 T C het . 8 +intronic PRIM2 chr6 57373710 57373710 T C het . 2 +intronic PRIM2 chr6 57373837 57373837 A T het . 2 +intronic PRIM2 chr6 57373993 57373993 T G het . 2 +intronic PRIM2 chr6 57374115 57374115 T C het . 2 +intronic PRIM2 chr6 57375141 57375141 G A het . 2 +intronic PRIM2 chr6 57375667 57375667 - G het . 2 +intronic PRIM2 chr6 57375702 57375702 C T het . 2 +intronic PRIM2 chr6 57377282 57377283 CG GA het . 2 +intronic PRIM2 chr6 57377286 57377286 C A het . 2 +intronic PRIM2 chr6 57377296 57377296 G C het . 2 +intronic PRIM2 chr6 57377507 57377507 T C het . 1 +intronic PRIM2 chr6 57377587 57377587 A C het . 4 +intronic PRIM2 chr6 57377597 57377597 C A het . 4 +intronic PRIM2 chr6 57377914 57377914 A G het . 2 +intronic PRIM2 chr6 57377969 57377969 G A het . 2 +intronic PRIM2 chr6 57379048 57379048 A G het . 1 +intronic PRIM2 chr6 57379447 57379447 A C het . 2 +intronic PRIM2 chr6 57380481 57380481 T A het . 2 +intronic PRIM2 chr6 57380502 57380502 G A het . 2 +intronic PRIM2 chr6 57380564 57380564 C T het . 2 +intronic PRIM2 chr6 57380587 57380587 G A het . 2 +intronic PRIM2 chr6 57380606 57380606 G A het . 2 +intronic PRIM2 chr6 57381288 57381288 T G het . 4 +intronic PRIM2 chr6 57381324 57381324 C A het . 3 +intronic PRIM2 chr6 57381337 57381337 C T het . 2 +intronic PRIM2 chr6 57382597 57382597 T A het . 1 +intronic PRIM2 chr6 57384946 57384946 C A het . 2 +intronic PRIM2 chr6 57385851 57385852 TT - het . 2 +intronic PRIM2 chr6 57385855 57385855 - TGATTTTT het . 2 +intronic PRIM2 chr6 57386591 57386591 T C het . 2 +intronic PRIM2 chr6 57387024 57387024 C T het . 2 +intronic PRIM2 chr6 57387420 57387420 A T het . 3 +intronic PRIM2 chr6 57387811 57387811 C T het . 3 +intronic PRIM2 chr6 57388037 57388037 C T het . 3 +intronic PRIM2 chr6 57388054 57388054 C G het . 3 +intronic PRIM2 chr6 57389087 57389087 C T het . 3 +intronic PRIM2 chr6 57390372 57390372 T C het . 2 +intronic PRIM2 chr6 57390388 57390388 A T het . 2 +intronic PRIM2 chr6 57390947 57390947 A - het . 3 +intronic PRIM2 chr6 57391006 57391006 C T het . 2 +intronic PRIM2 chr6 57392181 57392181 T G het . 2 +intronic PRIM2 chr6 57392499 57392499 T C het . 1 +intronic PRIM2 chr6 57392913 57392913 T C het . 6 +intronic PRIM2 chr6 57392963 57392963 T C het . 9 +intronic PRIM2 chr6 57393029 57393029 T A het . 13 +intronic PRIM2 chr6 57393034 57393034 G T het . 13 +intronic PRIM2 chr6 57393040 57393040 A T het . 13 +intronic PRIM2 chr6 57393054 57393054 G A het . 11 +intronic PRIM2 chr6 57393074 57393074 A G het . 10 +intronic PRIM2 chr6 57393278 57393278 T C het . 13 +intronic PRIM2 chr6 57393329 57393329 G T het . 9 +intronic PRIM2 chr6 57393337 57393337 - A het . 7 +intronic PRIM2 chr6 57393338 57393338 T A het . 7 +intronic PRIM2 chr6 57393350 57393350 G A het . 8 +intronic PRIM2 chr6 57393408 57393408 G T het . 7 +intronic PRIM2 chr6 57393466 57393466 C G het . 9 +intronic PRIM2 chr6 57393469 57393469 T C het . 8 +intronic PRIM2 chr6 57394673 57394673 G C het . 1 +intronic PRIM2 chr6 57394908 57394908 T G het . 3 +intronic PRIM2 chr6 57394912 57394912 A G het . 3 +intronic PRIM2 chr6 57395451 57395451 A G het . 1 +intronic PRIM2 chr6 57396165 57396165 G A het . 1 +intronic PRIM2 chr6 57396173 57396173 G T het . 2 +intronic PRIM2 chr6 57396806 57396806 T A het . 2 +intronic PRIM2 chr6 57397982 57397982 C A het . 6 +intronic PRIM2 chr6 57398008 57398009 CA TG het . 12 +intronic PRIM2 chr6 57398029 57398029 G - het . 15 +intronic PRIM2 chr6 57398047 57398047 A C het . 15 +intronic PRIM2 chr6 57398058 57398058 C G het . 15 +intronic PRIM2 chr6 57398081 57398081 T G het . 21 +exonic PRIM2 chr6 57398163 57398163 A G het . 30 +exonic PRIM2 chr6 57398186 57398186 - A het . 41 +exonic PRIM2 chr6 57398201 57398201 T C het . 53 +exonic PRIM2 chr6 57398207 57398207 G T het . 56 +exonic PRIM2 chr6 57398226 57398226 T G het . 58 +intronic PRIM2 chr6 57398386 57398386 T - het . 12 +intronic PRIM2 chr6 57398412 57398412 A G het . 12 +intronic PRIM2 chr6 57398491 57398491 C T het . 12 +intronic PRIM2 chr6 57398503 57398503 A G het . 11 +intronic PRIM2 chr6 57398587 57398587 A G het . 2 +intronic PRIM2 chr6 57398943 57398943 C T het . 1 +intronic PRIM2 chr6 57400479 57400479 T C het . 2 +intronic PRIM2 chr6 57400629 57400629 C T het . 7 +intronic PRIM2 chr6 57400983 57400983 C T het . 3 +intronic PRIM2 chr6 57401098 57401098 C T het . 21 +intronic PRIM2 chr6 57401140 57401140 G T het . 21 +intronic PRIM2 chr6 57401155 57401155 T C het . 19 +intronic PRIM2 chr6 57401163 57401163 T C het . 17 +intronic PRIM2 chr6 57401195 57401195 A G het . 18 +intronic PRIM2 chr6 57401201 57401201 A G het . 19 +intronic PRIM2 chr6 57401203 57401203 G T het . 18 +intronic PRIM2 chr6 57401278 57401278 C T het . 12 +intronic PRIM2 chr6 57402017 57402017 G C het . 1 +intronic PRIM2 chr6 57403095 57403095 G T het . 3 +intronic PRIM2 chr6 57403115 57403118 TTTT - het . 1 +intronic PRIM2 chr6 57404046 57404046 T - het . 2 +intronic PRIM2 chr6 57404120 57404120 G A het . 2 +intronic PRIM2 chr6 57404143 57404145 TGT - het . 2 +intronic PRIM2 chr6 57405264 57405264 G A het . 2 +intronic PRIM2 chr6 57405621 57405624 ATCA - het . 1 +intronic PRIM2 chr6 57405635 57405635 T C het . 1 +intronic PRIM2 chr6 57405643 57405643 C T het . 1 +intronic PRIM2 chr6 57405661 57405661 G A het . 3 +intronic PRIM2 chr6 57405674 57405674 C G het . 3 +intronic PRIM2 chr6 57406962 57406962 G T het . 1 +intronic PRIM2 chr6 57408666 57408666 A G het . 3 +intronic PRIM2 chr6 57408671 57408671 T C het . 3 +intronic PRIM2 chr6 57409665 57409665 T C het . 3 +intronic PRIM2 chr6 57410416 57410416 A C het . 1 +intronic PRIM2 chr6 57411854 57411854 G A het . 2 +intronic PRIM2 chr6 57413204 57413204 G T het . 2 +intronic PRIM2 chr6 57413745 57413745 T C het . 3 +intronic PRIM2 chr6 57413764 57413764 A G het . 3 +intronic PRIM2 chr6 57416007 57416007 C T het . 2 +intronic PRIM2 chr6 57416474 57416475 TG CC het . 3 +intronic PRIM2 chr6 57416499 57416499 A G het . 2 +intronic PRIM2 chr6 57416838 57416838 - A het . 3 +intronic PRIM2 chr6 57417215 57417215 C T het . 3 +intronic PRIM2 chr6 57417796 57417796 C G het . 2 +intronic PRIM2 chr6 57419924 57419924 G A het . 2 +intronic PRIM2 chr6 57420203 57420203 G T het . 3 +intronic PRIM2 chr6 57420432 57420432 G A het . 8 +intronic PRIM2 chr6 57420454 57420454 T C het . 13 +intronic PRIM2 chr6 57420537 57420537 T A het . 8 +intronic PRIM2 chr6 57420831 57420831 A G het . 2 +intronic PRIM2 chr6 57421282 57421282 G C het . 5 +intronic PRIM2 chr6 57429526 57429526 T - het . 2 +intronic PRIM2 chr6 57431233 57431233 T C het . 2 +intronic PRIM2 chr6 57432175 57432175 G T het . 3 +intronic PRIM2 chr6 57432195 57432195 C T het . 3 +intronic PRIM2 chr6 57432404 57432404 - TT het . 3 +intronic PRIM2 chr6 57432508 57432508 - TT het . 1 +intronic PRIM2 chr6 57432511 57432511 G T het . 1 +intronic PRIM2 chr6 57432551 57432551 T C het . 3 +intronic PRIM2 chr6 57432564 57432564 A G het . 2 +intronic PRIM2 chr6 57436019 57436019 G A het . 3 +intronic PRIM2 chr6 57436605 57436605 C T het . 2 +intronic PRIM2 chr6 57437877 57437877 G A het . 3 +intronic PRIM2 chr6 57437929 57437929 T C het . 3 +intronic PRIM2 chr6 57437937 57437937 C T het . 3 +intronic PRIM2 chr6 57437974 57437974 T C het . 4 +intronic PRIM2 chr6 57437976 57437976 G A het . 4 +intronic PRIM2 chr6 57437991 57437995 CAAAA - het . 4 +intronic PRIM2 chr6 57438133 57438133 T C het . 2 +intronic PRIM2 chr6 57438139 57438139 C T het . 1 +intronic PRIM2 chr6 57438320 57438320 C A het . 1 +intronic PRIM2 chr6 57438337 57438337 C T het . 2 +intronic PRIM2 chr6 57438362 57438362 T C het . 1 +intronic PRIM2 chr6 57438632 57438632 G A het . 3 +intronic PRIM2 chr6 57438679 57438679 C G het . 4 +intronic PRIM2 chr6 57438708 57438708 - T het . 3 +intronic PRIM2 chr6 57440722 57440722 G A het . 2 +intronic PRIM2 chr6 57441982 57441982 - GAG het . 5 +intronic PRIM2 chr6 57441995 57441995 A T het . 4 +intronic PRIM2 chr6 57442000 57442000 C T het . 3 +intronic PRIM2 chr6 57442007 57442007 T C het . 3 +intronic PRIM2 chr6 57442092 57442092 A G het . 11 +intronic PRIM2 chr6 57442115 57442115 A T het . 11 +intronic PRIM2 chr6 57442135 57442135 T C het . 9 +intronic PRIM2 chr6 57442149 57442149 C T het . 7 +intronic PRIM2 chr6 57442197 57442197 T C het . 3 +intronic PRIM2 chr6 57442248 57442248 G A het . 4 +intronic PRIM2 chr6 57442681 57442681 T A het . 2 +intronic PRIM2 chr6 57445685 57445685 G A het . 2 +intronic PRIM2 chr6 57447161 57447161 T C het . 2 +intronic PRIM2 chr6 57451073 57451073 T C het . 3 +intronic PRIM2 chr6 57453026 57453026 A G het . 2 +intronic PRIM2 chr6 57454492 57454492 A G het . 3 +intronic PRIM2 chr6 57455618 57455618 G C het . 1 +intronic PRIM2 chr6 57456414 57456414 A C het . 2 +intronic PRIM2 chr6 57457042 57457042 A - het . 2 +intronic PRIM2 chr6 57457564 57457564 A G het . 3 +intronic PRIM2 chr6 57457947 57457947 A C het . 2 +intronic PRIM2 chr6 57457973 57457974 CT TG het . 2 +intronic PRIM2 chr6 57459273 57459273 C T het . 2 +intronic PRIM2 chr6 57460027 57460027 A G het . 2 +intronic PRIM2 chr6 57460044 57460044 - TTTG het . 2 +intronic PRIM2 chr6 57460050 57460050 C T het . 2 +intronic PRIM2 chr6 57460134 57460134 G A het . 3 +intronic PRIM2 chr6 57460713 57460713 G A het . 4 +intronic PRIM2 chr6 57461192 57461192 C T het . 3 +intronic PRIM2 chr6 57461209 57461216 ATGGAATA - het . 4 +intronic PRIM2 chr6 57461235 57461235 A G het . 4 +intronic PRIM2 chr6 57462201 57462201 G C het . 2 +intronic PRIM2 chr6 57462203 57462203 C A het . 3 +intronic PRIM2 chr6 57462216 57462216 G T het . 4 +intronic PRIM2 chr6 57462273 57462273 T C het . 5 +intronic PRIM2 chr6 57464494 57464494 A G het . 2 +intronic PRIM2 chr6 57466114 57466114 G C het . 2 +intronic PRIM2 chr6 57466133 57466133 T C het . 2 +intronic PRIM2 chr6 57466660 57466660 A - het . 1 +intronic PRIM2 chr6 57466915 57466915 T A het . 1 +intronic PRIM2 chr6 57466922 57466922 T C het . 2 +intronic PRIM2 chr6 57466958 57466958 A G het . 7 +intronic PRIM2 chr6 57466969 57466969 A G het . 10 +intronic PRIM2 chr6 57466987 57466987 T C het . 13 +intronic PRIM2 chr6 57467303 57467303 A G het . 8 +intronic PRIM2 chr6 57467317 57467317 G T het . 7 +intronic PRIM2 chr6 57467323 57467323 G C het . 6 +intronic PRIM2 chr6 57467949 57467949 C T het . 2 +intronic PRIM2 chr6 57467961 57467961 C T het . 3 +intronic PRIM2 chr6 57468929 57468929 A G het . 2 +intronic PRIM2 chr6 57468943 57468943 T C het . 2 +intronic PRIM2 chr6 57468995 57468995 T C het . 2 +intronic PRIM2 chr6 57469041 57469041 C T het . 3 +intronic PRIM2 chr6 57469140 57469140 - ACAC het . 4 +intronic PRIM2 chr6 57470639 57470639 G T het . 3 +intronic PRIM2 chr6 57471011 57471011 A T het . 2 +intronic PRIM2 chr6 57471396 57471396 T A het . 2 +intronic PRIM2 chr6 57471401 57471401 T - het . 3 +intronic PRIM2 chr6 57471431 57471431 T C het . 3 +intronic PRIM2 chr6 57472089 57472095 TTTTCCC - het . 1 +intronic PRIM2 chr6 57472101 57472101 T C het . 1 +intronic PRIM2 chr6 57472105 57472105 G T het . 2 +intronic PRIM2 chr6 57472201 57472201 A G het . 7 +intronic PRIM2 chr6 57472212 57472212 T A het . 6 +intronic PRIM2 chr6 57472255 57472255 C T het . 6 +intronic PRIM2 chr6 57472299 57472299 A G het . 19 +intronic PRIM2 chr6 57472315 57472316 AG GA het . 23 +intronic PRIM2 chr6 57472533 57472533 T C het . 5 +intronic PRIM2 chr6 57472908 57472908 C T het . 2 +intronic PRIM2 chr6 57472917 57472917 G T het . 2 +intronic PRIM2 chr6 57473545 57473545 G A het . 2 +intronic PRIM2 chr6 57474526 57474526 A G het . 2 +intronic PRIM2 chr6 57474578 57474578 T G het . 2 +intronic PRIM2 chr6 57476884 57476884 A G het . 2 +intronic PRIM2 chr6 57476908 57476908 A C het . 2 +intronic PRIM2 chr6 57477019 57477019 A G het . 3 +intronic PRIM2 chr6 57477728 57477728 C T het . 2 +intronic PRIM2 chr6 57479459 57479459 - A het . 3 +intronic PRIM2 chr6 57479483 57479483 T C het . 3 +intronic PRIM2 chr6 57480321 57480321 T C het . 3 +intronic PRIM2 chr6 57480472 57480472 G C het . 2 +intronic PRIM2 chr6 57482061 57482061 C G het . 3 +intronic PRIM2 chr6 57482645 57482645 T C het . 2 +intronic PRIM2 chr6 57482924 57482924 G T het . 2 +intronic PRIM2 chr6 57482929 57482929 A G het . 2 +intronic PRIM2 chr6 57483230 57483230 G A het . 2 +intronic PRIM2 chr6 57483685 57483685 C T het . 1 +intronic PRIM2 chr6 57483703 57483703 C T het . 1 +intronic PRIM2 chr6 57483707 57483707 A G het . 1 +intronic PRIM2 chr6 57483880 57483880 A G het . 2 +intronic PRIM2 chr6 57483902 57483902 A G het . 2 +intronic PRIM2 chr6 57483923 57483923 G A het . 2 +intronic PRIM2 chr6 57483942 57483942 T C het . 2 +intronic PRIM2 chr6 57483949 57483949 T C het . 1 +intronic PRIM2 chr6 57484463 57484463 C T het . 5 +intronic PRIM2 chr6 57484497 57484497 G T het . 5 +intronic PRIM2 chr6 57484528 57484528 T C het . 3 +intronic PRIM2 chr6 57485391 57485391 T G het . 1 +intronic PRIM2 chr6 57486357 57486357 A G het . 3 +intronic PRIM2 chr6 57486455 57486455 G T het . 2 +intronic PRIM2 chr6 57486782 57486782 A C het . 2 +intronic PRIM2 chr6 57487299 57487299 T G het . 4 +intronic PRIM2 chr6 57487352 57487352 A G het . 3 +intronic PRIM2 chr6 57487440 57487440 G A het . 2 +intronic PRIM2 chr6 57487543 57487543 C T het . 3 +intronic PRIM2 chr6 57487981 57487981 - C het . 2 +intronic PRIM2 chr6 57487982 57487982 T C het . 2 +intronic PRIM2 chr6 57487988 57487988 T C het . 2 +intronic PRIM2 chr6 57490337 57490337 - CT het . 2 +intronic PRIM2 chr6 57491185 57491185 C T het . 3 +intronic PRIM2 chr6 57492204 57492204 A G het . 2 +intronic PRIM2 chr6 57492206 57492206 A G het . 2 +intronic PRIM2 chr6 57492217 57492217 T G het . 2 +intronic PRIM2 chr6 57493428 57493436 CTAGCAAAC - het . 4 +intronic PRIM2 chr6 57493438 57493438 T C het . 4 +intronic PRIM2 chr6 57494277 57494277 A G het . 2 +intronic PRIM2 chr6 57495733 57495733 A G het . 2 +intronic PRIM2 chr6 57495772 57495772 C T het . 3 +intronic PRIM2 chr6 57498177 57498177 A T het . 3 +intronic PRIM2 chr6 57498894 57498894 G A het . 24 +intronic PRIM2 chr6 57499042 57499042 - T het . 22 +intronic PRIM2 chr6 57499251 57499251 C A het . 2 +intronic PRIM2 chr6 57499275 57499275 C T het . 2 +intronic PRIM2 chr6 57501163 57501163 C T het . 2 +intronic PRIM2 chr6 57501192 57501192 A G het . 2 +intronic PRIM2 chr6 57503339 57503339 A G het . 4 +intronic PRIM2 chr6 57503362 57503362 G A het . 5 +intronic PRIM2 chr6 57506768 57506768 T C het . 4 +intronic PRIM2 chr6 57508038 57508038 G A het . 2 +intronic PRIM2 chr6 57509252 57509252 T A het . 2 +intronic PRIM2 chr6 57509520 57509520 C T het . 3 +intronic PRIM2 chr6 57509525 57509525 T - het . 3 +intronic PRIM2 chr6 57512170 57512170 C T het . 3 +intronic PRIM2 chr6 57512340 57512340 C T het . 9 +UTR3 PRIM2(NM_000947:c.*9G>A) chr6 57512711 57512711 G A het . 22 +UTR3 PRIM2(NM_000947:c.*16T>A) chr6 57512718 57512718 T A het . 24 +UTR3 PRIM2(NM_000947:c.*39_*44delTGTTTT) chr6 57512741 57512746 TGTTTT - het . 17 +UTR3 PRIM2(NM_000947:c.*114_*115delinsTG) chr6 57512825 57512826 CA TG het . 8 +UTR3 PRIM2(NM_000947:c.*510C>T) chr6 57513221 57513221 C T het . 1 +intergenic PRIM2(dist=1582),GUSBP4(dist=719873) chr6 57514958 57514958 T C het . 1 +intergenic PRIM2(dist=1607),GUSBP4(dist=719848) chr6 57514983 57514983 A G het . 4 +intergenic PRIM2(dist=2276),GUSBP4(dist=719179) chr6 57515652 57515652 G A het . 1 +intergenic PRIM2(dist=2551),GUSBP4(dist=718903) chr6 57515927 57515928 TT - het . 2 +intergenic PRIM2(dist=2576),GUSBP4(dist=718878) chr6 57515952 57515953 AT GC het . 2 +intergenic PRIM2(dist=2681),GUSBP4(dist=718770) chr6 57516057 57516061 AAAAA - het . 2 +intergenic PRIM2(dist=2995),GUSBP4(dist=718460) chr6 57516371 57516371 C T het . 3 +intergenic PRIM2(dist=3954),GUSBP4(dist=717501) chr6 57517330 57517330 C G het . 1 +intergenic PRIM2(dist=3987),GUSBP4(dist=717468) chr6 57517363 57517363 G A het . 1 +intergenic PRIM2(dist=4781),GUSBP4(dist=716674) chr6 57518157 57518157 T C het . 3 +intergenic PRIM2(dist=5991),GUSBP4(dist=715464) chr6 57519367 57519367 T C het . 2 +intergenic PRIM2(dist=5995),GUSBP4(dist=715460) chr6 57519371 57519371 A G het . 2 +intergenic PRIM2(dist=6026),GUSBP4(dist=715429) chr6 57519402 57519402 T C het . 3 +intergenic PRIM2(dist=6053),GUSBP4(dist=715402) chr6 57519429 57519429 C T het . 2 +intergenic PRIM2(dist=7824),GUSBP4(dist=713631) chr6 57521200 57521200 T C het . 2 +intergenic PRIM2(dist=7845),GUSBP4(dist=713609) chr6 57521221 57521222 TG AT het . 2 +intergenic PRIM2(dist=8030),GUSBP4(dist=713425) chr6 57521406 57521406 C A het . 2 +intergenic PRIM2(dist=8044),GUSBP4(dist=713411) chr6 57521420 57521420 A G het . 3 +intergenic PRIM2(dist=8084),GUSBP4(dist=713371) chr6 57521460 57521460 A G het . 3 +intergenic PRIM2(dist=10020),GUSBP4(dist=711435) chr6 57523396 57523396 A G het . 4 +intergenic PRIM2(dist=10150),GUSBP4(dist=711305) chr6 57523526 57523526 C T het . 3 +intergenic PRIM2(dist=10334),GUSBP4(dist=711121) chr6 57523710 57523710 T C het . 3 +intergenic PRIM2(dist=10364),GUSBP4(dist=711091) chr6 57523740 57523740 C T het . 3 +intergenic PRIM2(dist=10664),GUSBP4(dist=710791) chr6 57524040 57524040 G A het . 2 +intergenic PRIM2(dist=10666),GUSBP4(dist=710789) chr6 57524042 57524042 T C het . 2 +intergenic PRIM2(dist=10695),GUSBP4(dist=710760) chr6 57524071 57524071 G C het . 2 +intergenic PRIM2(dist=10718),GUSBP4(dist=710737) chr6 57524094 57524094 C G het . 3 +intergenic PRIM2(dist=11462),GUSBP4(dist=709993) chr6 57524838 57524838 - AT het . 3 +intergenic PRIM2(dist=11476),GUSBP4(dist=709979) chr6 57524852 57524852 T C het . 4 +intergenic PRIM2(dist=11485),GUSBP4(dist=709970) chr6 57524861 57524861 T - het . 4 +intergenic PRIM2(dist=11505),GUSBP4(dist=709950) chr6 57524881 57524881 T A het . 4 +intergenic PRIM2(dist=11995),GUSBP4(dist=709460) chr6 57525371 57525371 A C het . 3 +intergenic PRIM2(dist=11997),GUSBP4(dist=709458) chr6 57525373 57525373 C G het . 3 +intergenic PRIM2(dist=12035),GUSBP4(dist=709420) chr6 57525411 57525411 T C het . 3 +intergenic PRIM2(dist=12270),GUSBP4(dist=709185) chr6 57525646 57525646 T C het . 2 +intergenic PRIM2(dist=15897),GUSBP4(dist=705558) chr6 57529273 57529273 C G het . 2 +intergenic PRIM2(dist=19028),GUSBP4(dist=702427) chr6 57532404 57532404 A C het . 1 +intergenic PRIM2(dist=19040),GUSBP4(dist=702415) chr6 57532416 57532416 A T het . 1 +intergenic PRIM2(dist=19054),GUSBP4(dist=702401) chr6 57532430 57532430 T A het . 2 +intergenic PRIM2(dist=19303),GUSBP4(dist=702152) chr6 57532679 57532679 C T het . 2 +intergenic PRIM2(dist=22828),GUSBP4(dist=698627) chr6 57536204 57536204 A G het . 1 +intergenic PRIM2(dist=23318),GUSBP4(dist=698137) chr6 57536694 57536694 A G het . 2 +intergenic PRIM2(dist=23321),GUSBP4(dist=698134) chr6 57536697 57536697 G A het . 2 +intergenic PRIM2(dist=24173),GUSBP4(dist=697282) chr6 57537549 57537549 T C het . 4 +intergenic PRIM2(dist=24187),GUSBP4(dist=697266) chr6 57537563 57537565 TGT - het . 4 +intergenic PRIM2(dist=24318),GUSBP4(dist=697137) chr6 57537694 57537694 C A het . 2 +intergenic PRIM2(dist=25240),GUSBP4(dist=696215) chr6 57538616 57538616 A G het . 1 +intergenic PRIM2(dist=25253),GUSBP4(dist=696202) chr6 57538629 57538629 C T het . 2 +intergenic PRIM2(dist=25582),GUSBP4(dist=695873) chr6 57538958 57538958 A G het . 4 +intergenic PRIM2(dist=25589),GUSBP4(dist=695866) chr6 57538965 57538965 T A het . 4 +intergenic PRIM2(dist=25607),GUSBP4(dist=695848) chr6 57538983 57538983 C T het . 3 +intergenic PRIM2(dist=27022),GUSBP4(dist=694433) chr6 57540398 57540398 T C het . 1 +intergenic PRIM2(dist=27913),GUSBP4(dist=693542) chr6 57541289 57541289 G T het . 3 +intergenic PRIM2(dist=27937),GUSBP4(dist=693518) chr6 57541313 57541313 A T het . 1 +intergenic PRIM2(dist=30176),GUSBP4(dist=691279) chr6 57543552 57543552 C T het . 4 +intergenic PRIM2(dist=30647),GUSBP4(dist=690808) chr6 57544023 57544023 T C het . 1 +intergenic PRIM2(dist=30661),GUSBP4(dist=690791) chr6 57544037 57544040 AACA - het . 1 +intergenic PRIM2(dist=33335),GUSBP4(dist=688120) chr6 57546711 57546711 C G het . 3 +intergenic PRIM2(dist=35087),GUSBP4(dist=686368) chr6 57548463 57548463 T C het . 3 +intergenic PRIM2(dist=36953),GUSBP4(dist=684502) chr6 57550329 57550329 T C het . 4 +intergenic PRIM2(dist=36980),GUSBP4(dist=684475) chr6 57550356 57550356 A G het . 4 +intergenic PRIM2(dist=39586),GUSBP4(dist=681869) chr6 57552962 57552962 A C het . 4 +intergenic PRIM2(dist=39600),GUSBP4(dist=681855) chr6 57552976 57552976 G C het . 4 +intergenic PRIM2(dist=39623),GUSBP4(dist=681832) chr6 57552999 57552999 C A het . 5 +intergenic PRIM2(dist=39644),GUSBP4(dist=681811) chr6 57553020 57553020 A G het . 4 +intergenic PRIM2(dist=39860),GUSBP4(dist=681595) chr6 57553236 57553236 A G het . 3 +intergenic PRIM2(dist=40672),GUSBP4(dist=680783) chr6 57554048 57554048 T A het . 3 +intergenic PRIM2(dist=40988),GUSBP4(dist=680467) chr6 57554364 57554364 A T het . 7 +intergenic PRIM2(dist=41384),GUSBP4(dist=680071) chr6 57554760 57554760 A C het . 2 +intergenic PRIM2(dist=41413),GUSBP4(dist=680042) chr6 57554789 57554789 A G het . 3 +intergenic PRIM2(dist=41724),GUSBP4(dist=679731) chr6 57555100 57555100 T C het . 2 +intergenic PRIM2(dist=41739),GUSBP4(dist=679716) chr6 57555115 57555115 A G het . 2 +intergenic PRIM2(dist=42022),GUSBP4(dist=679433) chr6 57555398 57555398 G A het . 2 +intergenic PRIM2(dist=42039),GUSBP4(dist=679416) chr6 57555415 57555415 T C het . 2 +intergenic PRIM2(dist=42053),GUSBP4(dist=679402) chr6 57555429 57555429 C T het . 1 +intergenic PRIM2(dist=42058),GUSBP4(dist=679397) chr6 57555434 57555434 C T het . 1 +intergenic PRIM2(dist=42126),GUSBP4(dist=679329) chr6 57555502 57555502 T C het . 3 +intergenic PRIM2(dist=42158),GUSBP4(dist=679297) chr6 57555534 57555534 C T het . 4 +intergenic PRIM2(dist=42195),GUSBP4(dist=679260) chr6 57555571 57555571 C T het . 3 +intergenic PRIM2(dist=43008),GUSBP4(dist=678447) chr6 57556384 57556384 T C het . 1 +intergenic PRIM2(dist=43902),GUSBP4(dist=677553) chr6 57557278 57557278 C T het . 2 +intergenic PRIM2(dist=44716),GUSBP4(dist=676739) chr6 57558092 57558092 A G het . 5 +intergenic PRIM2(dist=44723),GUSBP4(dist=676732) chr6 57558099 57558099 G A het . 4 +intergenic PRIM2(dist=44750),GUSBP4(dist=676705) chr6 57558126 57558126 A G het . 8 +intergenic PRIM2(dist=44753),GUSBP4(dist=676702) chr6 57558129 57558129 A C het . 8 +intergenic PRIM2(dist=46569),GUSBP4(dist=674886) chr6 57559945 57559945 A G het . 1 +intergenic PRIM2(dist=48610),GUSBP4(dist=672845) chr6 57561986 57561986 T C het . 1 +intergenic PRIM2(dist=48981),GUSBP4(dist=672474) chr6 57562357 57562357 C T het . 2 +intergenic PRIM2(dist=48988),GUSBP4(dist=672467) chr6 57562364 57562364 A C het . 2 +intergenic PRIM2(dist=50389),GUSBP4(dist=671066) chr6 57563765 57563765 A G het . 3 +intergenic PRIM2(dist=50505),GUSBP4(dist=670950) chr6 57563881 57563881 T C het . 1 +intergenic PRIM2(dist=50507),GUSBP4(dist=670948) chr6 57563883 57563883 T A het . 1 +intergenic PRIM2(dist=50531),GUSBP4(dist=670914) chr6 57563907 57563917 CTTCCTTCTTT - het . 1 +intergenic PRIM2(dist=50562),GUSBP4(dist=670893) chr6 57563938 57563938 A C het . 1 +intergenic PRIM2(dist=52354),GUSBP4(dist=669101) chr6 57565730 57565730 C T het . 3 +intergenic PRIM2(dist=52357),GUSBP4(dist=669098) chr6 57565733 57565733 G T het . 3 +intergenic PRIM2(dist=53559),GUSBP4(dist=667896) chr6 57566935 57566935 G A het . 3 +intergenic PRIM2(dist=53572),GUSBP4(dist=667883) chr6 57566948 57566948 C A het . 3 +intergenic PRIM2(dist=53649),GUSBP4(dist=667806) chr6 57567025 57567025 G A het . 4 +intergenic PRIM2(dist=53668),GUSBP4(dist=667787) chr6 57567044 57567044 A T het . 4 +intergenic PRIM2(dist=53683),GUSBP4(dist=667772) chr6 57567059 57567059 A G het . 3 +intergenic PRIM2(dist=53996),GUSBP4(dist=667457) chr6 57567372 57567374 GAA - het . 2 +intergenic PRIM2(dist=54044),GUSBP4(dist=667411) chr6 57567420 57567420 A G het . 2 +intergenic PRIM2(dist=60413),GUSBP4(dist=661042) chr6 57573789 57573789 G A het . 3 +intergenic PRIM2(dist=61129),GUSBP4(dist=660326) chr6 57574505 57574505 T C het . 2 +intergenic PRIM2(dist=62066),GUSBP4(dist=659389) chr6 57575442 57575442 G A het . 1 +intergenic PRIM2(dist=62069),GUSBP4(dist=659385) chr6 57575445 57575446 TT GC het . 1 +intergenic PRIM2(dist=62094),GUSBP4(dist=659361) chr6 57575470 57575470 T C het . 1 +intergenic PRIM2(dist=64285),GUSBP4(dist=657170) chr6 57577661 57577661 C A het . 2 +intergenic PRIM2(dist=64291),GUSBP4(dist=657160) chr6 57577667 57577671 ATTTT - het . 3 +intergenic PRIM2(dist=64307),GUSBP4(dist=657148) chr6 57577683 57577683 T C het . 3 +intergenic PRIM2(dist=66121),GUSBP4(dist=655334) chr6 57579497 57579497 G T het . 2 +intergenic PRIM2(dist=67674),GUSBP4(dist=653781) chr6 57581050 57581050 T C het . 1 +intergenic PRIM2(dist=68160),GUSBP4(dist=653295) chr6 57581536 57581536 A G het . 2 +intergenic PRIM2(dist=68241),GUSBP4(dist=653214) chr6 57581617 57581617 C T het . 3 +intergenic PRIM2(dist=68246),GUSBP4(dist=653209) chr6 57581622 57581622 A C het . 3 +intergenic PRIM2(dist=68262),GUSBP4(dist=653193) chr6 57581638 57581638 T C het . 3 +intergenic PRIM2(dist=68325),GUSBP4(dist=653130) chr6 57581701 57581701 A T het . 1 +intergenic PRIM2(dist=68470),GUSBP4(dist=652985) chr6 57581846 57581846 C T het . 2 +intergenic PRIM2(dist=68489),GUSBP4(dist=652964) chr6 57581865 57581867 TGT CCC het . 2 +intergenic PRIM2(dist=69518),GUSBP4(dist=651937) chr6 57582894 57582894 T C het . 2 +intergenic PRIM2(dist=69527),GUSBP4(dist=651928) chr6 57582903 57582903 G C het . 2 +intergenic PRIM2(dist=70014),GUSBP4(dist=651441) chr6 57583390 57583390 T C het . 3 +intergenic PRIM2(dist=70024),GUSBP4(dist=651431) chr6 57583400 57583400 A G het . 3 +intergenic PRIM2(dist=70044),GUSBP4(dist=651411) chr6 57583420 57583420 - A het . 2 +intergenic PRIM2(dist=70058),GUSBP4(dist=651397) chr6 57583434 57583434 C T het . 2 +intergenic PRIM2(dist=80054),GUSBP4(dist=641401) chr6 57593430 57593430 C T het . 2 +intergenic PRIM2(dist=80061),GUSBP4(dist=641394) chr6 57593437 57593437 G A het . 2 +intergenic PRIM2(dist=80076),GUSBP4(dist=641379) chr6 57593452 57593452 C A het . 2 +intergenic PRIM2(dist=80090),GUSBP4(dist=641365) chr6 57593466 57593466 A C het . 2 +intergenic PRIM2(dist=81181),GUSBP4(dist=640274) chr6 57594557 57594557 T C het . 2 +intergenic PRIM2(dist=81204),GUSBP4(dist=640251) chr6 57594580 57594580 G A het . 2 +intergenic PRIM2(dist=81209),GUSBP4(dist=640246) chr6 57594585 57594585 T C het . 2 +intergenic PRIM2(dist=81755),GUSBP4(dist=639700) chr6 57595131 57595131 A G het . 2 +intergenic PRIM2(dist=82304),GUSBP4(dist=639151) chr6 57595680 57595680 G A het . 2 +intergenic PRIM2(dist=90759),GUSBP4(dist=630696) chr6 57604135 57604135 G A het . 2 +intergenic PRIM2(dist=91201),GUSBP4(dist=630254) chr6 57604577 57604577 C T het . 2 +intergenic PRIM2(dist=382893),GUSBP4(dist=338562) chr6 57896269 57896269 - CTT het . 2 +intergenic PRIM2(dist=539808),GUSBP4(dist=181647) chr6 58053184 58053184 G A het . 2 +intergenic LINC00680-GUSBP4(dist=489206),NONE(dist=NONE) chr6 58776930 58776930 T G het . 63 +intergenic LINC00680-GUSBP4(dist=489215),NONE(dist=NONE) chr6 58776939 58776939 T C het . 70 +intergenic LINC00680-GUSBP4(dist=489241),NONE(dist=NONE) chr6 58776965 58776965 C T het . 55 +intergenic LINC00680-GUSBP4(dist=489248),NONE(dist=NONE) chr6 58776972 58776972 C T het . 51 +intergenic LINC00680-GUSBP4(dist=489258),NONE(dist=NONE) chr6 58776982 58776982 G T het . 42 +intergenic LINC00680-GUSBP4(dist=489260),NONE(dist=NONE) chr6 58776984 58776984 A T het . 41 +intergenic LINC00680-GUSBP4(dist=489268),NONE(dist=NONE) chr6 58776992 58776992 T A het . 34 +intergenic LINC00680-GUSBP4(dist=489374),NONE(dist=NONE) chr6 58777098 58777098 A T het . 42 +intergenic LINC00680-GUSBP4(dist=489385),NONE(dist=NONE) chr6 58777109 58777109 C T het . 48 +intergenic LINC00680-GUSBP4(dist=489398),NONE(dist=NONE) chr6 58777122 58777122 T G het . 63 +intergenic LINC00680-GUSBP4(dist=489432),NONE(dist=NONE) chr6 58777156 58777156 C G het . 55 +intergenic LINC00680-GUSBP4(dist=489509),NONE(dist=NONE) chr6 58777233 58777233 C T het . 47 +intergenic LINC00680-GUSBP4(dist=489512),NONE(dist=NONE) chr6 58777236 58777236 C G het . 43 +intergenic LINC00680-GUSBP4(dist=489515),NONE(dist=NONE) chr6 58777239 58777239 A - het . 41 +intergenic LINC00680-GUSBP4(dist=489527),NONE(dist=NONE) chr6 58777251 58777251 C A het . 38 +intergenic LINC00680-GUSBP4(dist=489591),NONE(dist=NONE) chr6 58777315 58777315 T C het . 16 +intergenic LINC00680-GUSBP4(dist=489642),NONE(dist=NONE) chr6 58777366 58777366 A G het . 46 +intergenic LINC00680-GUSBP4(dist=489710),NONE(dist=NONE) chr6 58777434 58777434 C T het . 59 +intergenic LINC00680-GUSBP4(dist=489787),NONE(dist=NONE) chr6 58777511 58777511 A G het . 14 +intergenic LINC00680-GUSBP4(dist=489849),NONE(dist=NONE) chr6 58777573 58777573 C T het . 22 +intergenic LINC00680-GUSBP4(dist=489875),NONE(dist=NONE) chr6 58777599 58777599 T G het . 42 +intergenic LINC00680-GUSBP4(dist=489921),NONE(dist=NONE) chr6 58777645 58777645 G A het . 60 +intergenic LINC00680-GUSBP4(dist=489942),NONE(dist=NONE) chr6 58777666 58777666 C G het . 64 +intergenic LINC00680-GUSBP4(dist=490061),NONE(dist=NONE) chr6 58777785 58777785 T C het . 16 +intergenic LINC00680-GUSBP4(dist=490104),NONE(dist=NONE) chr6 58777828 58777828 G A het . 48 +intergenic LINC00680-GUSBP4(dist=490105),NONE(dist=NONE) chr6 58777829 58777829 T C het . 50 +intergenic LINC00680-GUSBP4(dist=490112),NONE(dist=NONE) chr6 58777836 58777836 A C het . 52 +intergenic LINC00680-GUSBP4(dist=490215),NONE(dist=NONE) chr6 58777939 58777939 G A het . 5 +intergenic LINC00680-GUSBP4(dist=490277),NONE(dist=NONE) chr6 58778001 58778001 G A het . 36 +intergenic LINC00680-GUSBP4(dist=490289),NONE(dist=NONE) chr6 58778013 58778013 C G het . 44 +intergenic LINC00680-GUSBP4(dist=490295),NONE(dist=NONE) chr6 58778019 58778019 T G het . 47 +intergenic LINC00680-GUSBP4(dist=490301),NONE(dist=NONE) chr6 58778025 58778025 A G het . 51 +intergenic LINC00680-GUSBP4(dist=490315),NONE(dist=NONE) chr6 58778039 58778039 G C het . 42 +intergenic LINC00680-GUSBP4(dist=490323),NONE(dist=NONE) chr6 58778047 58778047 A G het . 36 +intergenic LINC00680-GUSBP4(dist=490357),NONE(dist=NONE) chr6 58778081 58778082 TT GC het . 28 +intergenic LINC00680-GUSBP4(dist=490376),NONE(dist=NONE) chr6 58778100 58778100 A T het . 15 +intergenic LINC00680-GUSBP4(dist=490384),NONE(dist=NONE) chr6 58778108 58778108 G C het . 11 +intergenic LINC00680-GUSBP4(dist=490476),NONE(dist=NONE) chr6 58778200 58778200 T C het . 56 +intergenic LINC00680-GUSBP4(dist=490483),NONE(dist=NONE) chr6 58778207 58778207 G A het . 57 +intergenic LINC00680-GUSBP4(dist=490518),NONE(dist=NONE) chr6 58778242 58778242 C T het . 61 +intergenic LINC00680-GUSBP4(dist=490520),NONE(dist=NONE) chr6 58778244 58778244 A T het . 59 +intergenic LINC00680-GUSBP4(dist=490584),NONE(dist=NONE) chr6 58778308 58778308 T A het . 62 +intergenic LINC00680-GUSBP4(dist=490590),NONE(dist=NONE) chr6 58778314 58778314 T C het . 61 +intergenic LINC00680-GUSBP4(dist=490614),NONE(dist=NONE) chr6 58778338 58778338 C T het . 57 +intergenic LINC00680-GUSBP4(dist=490615),NONE(dist=NONE) chr6 58778339 58778339 G A het . 57 +intergenic LINC00680-GUSBP4(dist=490680),NONE(dist=NONE) chr6 58778404 58778405 CC AT het . 64 +intergenic LINC00680-GUSBP4(dist=490688),NONE(dist=NONE) chr6 58778412 58778412 T C het . 61 +intergenic LINC00680-GUSBP4(dist=490728),NONE(dist=NONE) chr6 58778452 58778452 A C het . 63 +intergenic LINC00680-GUSBP4(dist=490732),NONE(dist=NONE) chr6 58778456 58778456 G T het . 63 +intergenic LINC00680-GUSBP4(dist=490758),NONE(dist=NONE) chr6 58778482 58778482 G A het . 55 +intergenic LINC00680-GUSBP4(dist=490810),NONE(dist=NONE) chr6 58778534 58778534 G C het . 56 +intergenic LINC00680-GUSBP4(dist=490853),NONE(dist=NONE) chr6 58778577 58778577 T A het . 62 +intergenic LINC00680-GUSBP4(dist=490860),NONE(dist=NONE) chr6 58778584 58778584 T G het . 59 +intergenic LINC00680-GUSBP4(dist=491064),NONE(dist=NONE) chr6 58778788 58778788 T C het . 59 +intergenic LINC00680-GUSBP4(dist=491085),NONE(dist=NONE) chr6 58778809 58778809 A C het . 61 +intergenic LINC00680-GUSBP4(dist=491148),NONE(dist=NONE) chr6 58778872 58778872 G A het . 62 +intergenic LINC00680-GUSBP4(dist=491198),NONE(dist=NONE) chr6 58778922 58778922 C A het . 56 +intergenic LINC00680-GUSBP4(dist=491243),NONE(dist=NONE) chr6 58778967 58778967 T C het . 46 +intergenic LINC00680-GUSBP4(dist=491265),NONE(dist=NONE) chr6 58778989 58778989 T C het . 45 +intergenic LINC00680-GUSBP4(dist=491283),NONE(dist=NONE) chr6 58779007 58779007 C T het . 46 +intergenic LINC00680-GUSBP4(dist=491345),NONE(dist=NONE) chr6 58779069 58779069 T C het . 54 +intergenic LINC00680-GUSBP4(dist=491365),NONE(dist=NONE) chr6 58779089 58779089 C A het . 52 +intergenic LINC00680-GUSBP4(dist=491373),NONE(dist=NONE) chr6 58779097 58779097 A G het . 53 +intergenic LINC00680-GUSBP4(dist=491407),NONE(dist=NONE) chr6 58779131 58779131 A G het . 56 +intergenic NONE(dist=NONE),MTRNR2L9(dist=363502) chr6 61920506 61920506 - C het . 2 +intergenic NONE(dist=NONE),MTRNR2L9(dist=363493) chr6 61920515 61920515 C T het . 2 +intergenic NONE(dist=NONE),MTRNR2L9(dist=302324) chr6 61981684 61981684 G A het . 2 +intergenic NONE(dist=NONE),MTRNR2L9(dist=99742) chr6 62184266 62184266 T C het . 1 +intergenic NONE(dist=NONE),MTRNR2L9(dist=5472) chr6 62278536 62278536 - A het . 2 +intronic KHDRBS2 chr6 62456982 62456982 A T het . 2 +intronic KHDRBS2 chr6 62472581 62472581 C T het . 2 +intronic KHDRBS2 chr6 62495558 62495558 G A het . 3 +intronic KHDRBS2 chr6 62587354 62587354 G T het . 1 +intronic KHDRBS2 chr6 62604848 62604848 - TC het . 3 +intronic KHDRBS2 chr6 62666809 62666809 - TCATCA het . 4 +intronic KHDRBS2 chr6 62887031 62887031 C T het . 8 +intergenic KHDRBS2(dist=91968),LGSN(dist=897756) chr6 63088100 63088100 - TT het . 2 +intergenic KHDRBS2(dist=91998),LGSN(dist=897726) chr6 63088130 63088130 G A het . 3 +intergenic KHDRBS2(dist=108818),LGSN(dist=880906) chr6 63104950 63104950 C T het . 1 +intergenic KHDRBS2(dist=146823),LGSN(dist=842901) chr6 63142955 63142955 A G het . 2 +intergenic KHDRBS2(dist=174928),LGSN(dist=814796) chr6 63171060 63171060 C T het . 3 +intergenic KHDRBS2(dist=262102),LGSN(dist=727622) chr6 63258234 63258234 A - het . 3 +intergenic KHDRBS2(dist=401339),LGSN(dist=588385) chr6 63397471 63397471 G A het . 1 +intergenic KHDRBS2(dist=594565),LGSN(dist=395159) chr6 63590697 63590697 T C het . 2 +intergenic KHDRBS2(dist=594576),LGSN(dist=395148) chr6 63590708 63590708 A G het . 2 +intergenic KHDRBS2(dist=758675),LGSN(dist=231049) chr6 63754807 63754807 G C het . 2 +intergenic KHDRBS2(dist=758679),LGSN(dist=231045) chr6 63754811 63754811 C T het . 2 +intergenic KHDRBS2(dist=891502),LGSN(dist=98222) chr6 63887634 63887634 T A het . 1 +intergenic PTP4A1(dist=4159),PHF3(dist=48052) chr6 64297652 64297655 ATTT - het . 2 +intronic PHF3 chr6 64405190 64405190 G T het . 2 +exonic PHF3 chr6 64408422 64408422 T C het . 33 +exonic PHF3 chr6 64412451 64412451 C T het . 38 +intronic EYS chr6 64472299 64472299 T C het . 3 +exonic EYS chr6 64488001 64488001 T C het . 16 +intronic EYS chr6 64967660 64967662 GAT - het . 4 +intronic EYS chr6 64972455 64972455 A G het . 2 +intronic EYS chr6 64993725 64993725 C T het . 3 +intronic EYS chr6 65016978 65016979 GA - het . 5 +intronic EYS chr6 65092947 65092947 A G het . 2 +intronic EYS chr6 65302916 65302916 A - het . 5 +intronic EYS chr6 65394602 65394602 A G het . 1 +intronic EYS chr6 65574274 65574274 C A het . 2 +intronic EYS chr6 65596759 65596759 G A het . 9 +intronic EYS chr6 65611391 65611391 T G het . 1 +intronic EYS chr6 65989094 65989094 T A het . 2 +intergenic EYS(dist=52001),SLC25A51P1(dist=28653) chr6 66469119 66469119 - T het . 3 +intergenic EYS(dist=52013),SLC25A51P1(dist=28641) chr6 66469131 66469131 G T het . 3 +intergenic SLC25A51P1(dist=3536),NONE(dist=NONE) chr6 66502912 66502912 - AA het . 3 +intergenic SLC25A51P1(dist=3545),NONE(dist=NONE) chr6 66502921 66502921 T A het . 3 +intergenic SLC25A51P1(dist=19855),NONE(dist=NONE) chr6 66519231 66519231 G T het . 2 +intergenic SLC25A51P1(dist=100696),NONE(dist=NONE) chr6 66600072 66600072 T - het . 2 +intergenic SLC25A51P1(dist=187651),NONE(dist=NONE) chr6 66687027 66687029 ATA - het . 2 +intergenic SLC25A51P1(dist=304393),LOC102723883(dist=1961474) chr6 66803769 66803769 - GTTTCT het . 8 +intergenic SLC25A51P1(dist=943519),LOC102723883(dist=1322348) chr6 67442895 67442895 G C het . 3 +intergenic SLC25A51P1(dist=1100463),LOC102723883(dist=1165404) chr6 67599839 67599839 C G het . 1 +intergenic SLC25A51P1(dist=1178227),LOC102723883(dist=1087640) chr6 67677603 67677603 G A het . 2 +intergenic SLC25A51P1(dist=1241915),LOC102723883(dist=1023952) chr6 67741291 67741291 G A het . 2 +intergenic SLC25A51P1(dist=1298187),LOC102723883(dist=967680) chr6 67797563 67797563 A G het . 1 +intergenic SLC25A51P1(dist=1299194),LOC102723883(dist=966672) chr6 67798570 67798571 CT - het . 2 +intergenic SLC25A51P1(dist=1315653),LOC102723883(dist=950214) chr6 67815029 67815029 - G het . 2 +intergenic SLC25A51P1(dist=1315675),LOC102723883(dist=950192) chr6 67815051 67815051 - G het . 2 +intergenic SLC25A51P1(dist=1316616),LOC102723883(dist=949251) chr6 67815992 67815992 G A het . 2 +intergenic SLC25A51P1(dist=1324092),LOC102723883(dist=941775) chr6 67823468 67823468 C A het . 2 +intergenic SLC25A51P1(dist=1411442),LOC102723883(dist=854425) chr6 67910818 67910818 - GCTGCT het . 5 +intergenic SLC25A51P1(dist=1613343),LOC102723883(dist=652524) chr6 68112719 68112719 G A het . 2 +intergenic SLC25A51P1(dist=1613349),LOC102723883(dist=652518) chr6 68112725 68112725 C T het . 2 +intergenic SLC25A51P1(dist=1717112),LOC102723883(dist=548755) chr6 68216488 68216488 A T het . 1 +intergenic SLC25A51P1(dist=1717113),LOC102723883(dist=548754) chr6 68216489 68216489 - A het . 1 +intergenic SLC25A51P1(dist=1842917),LOC102723883(dist=422950) chr6 68342293 68342293 C A het . 1 +intergenic SLC25A51P1(dist=1962935),LOC102723883(dist=302932) chr6 68462311 68462311 A T het . 2 +downstream LOC102723883(dist=904) chr6 68771298 68771299 TT AA het . 2 +intergenic LOC102723883(dist=22081),LINC02549(dist=144387) chr6 68792475 68792475 C T het . 2 +intergenic LOC102723883(dist=161988),LINC02549(dist=4480) chr6 68932382 68932382 - TCT het . 2 +ncRNA_intronic LINC02549 chr6 69006299 69006299 G C het . 1 +intergenic LINC02549(dist=52146),LOC101928307(dist=250618) chr6 69091937 69091937 G A het . 2 +intergenic LINC02549(dist=201399),LOC101928307(dist=101365) chr6 69241190 69241190 T - het . 3 +intronic ADGRB3 chr6 69505749 69505749 A T het . 2 +intronic ADGRB3 chr6 69641998 69641998 C G het . 2 +intronic ADGRB3 chr6 69703953 69703953 A G het . 1 +intronic ADGRB3 chr6 69703966 69703968 TCC - het . 2 +intronic ADGRB3 chr6 69765699 69765699 - T het . 3 +intronic ADGRB3 chr6 69773460 69773460 G A het . 1 +intronic ADGRB3 chr6 69882912 69882912 G T het . 1 +exonic ADGRB3 chr6 70071237 70071237 C A het . 32 +intronic LMBRD1 chr6 70414799 70414799 - T het . 2 +intronic LMBRD1 chr6 70451591 70451591 T G het . 21 +intronic LMBRD1 chr6 70463830 70463830 - A het . 3 +intergenic LMBRD1(dist=7447),COL19A1(dist=61952) chr6 70514496 70514496 T G het . 3 +intronic COL19A1 chr6 70741139 70741139 A T het . 2 +intronic COL19A1 chr6 70823682 70823682 C T het . 2 +exonic COL19A1 chr6 70847628 70847628 A G het . 22 +exonic COL19A1 chr6 70866072 70866074 AGA - het . 16 +intronic COL19A1 chr6 70897698 70897698 A G het . 6 +intronic COL19A1 chr6 70899898 70899898 C A het . 6 +exonic COL19A1 chr6 70916888 70916888 A C het . 8 +exonic COL9A1 chr6 71004050 71004050 C A het . 36 +intergenic COL9A1(dist=48189),EVADR(dist=42930) chr6 71060975 71060975 A G het . 1 +intronic FAM135A chr6 71190487 71190487 C A het . 6 +intronic FAM135A chr6 71215508 71215508 T C het . 2 +exonic FAM135A chr6 71238059 71238059 C A het . 17 +intronic FAM135A chr6 71242635 71242635 A - het . 5 +intergenic SDHAF4(dist=25263),SMAP1(dist=53605) chr6 71323869 71323869 T A het . 2 +exonic SMAP1 chr6 71508370 71508370 A - het . 19 +intronic SMAP1 chr6 71547371 71547371 C T het . 2 +intronic B3GAT2 chr6 71590181 71590181 A C het . 2 +intronic B3GAT2 chr6 71623253 71623253 G A het . 1 +intergenic B3GAT2(dist=24777),OGFRL1(dist=306580) chr6 71691565 71691565 T A het . 2 +intergenic B3GAT2(dist=33140),OGFRL1(dist=298217) chr6 71699928 71699928 G T het . 2 +intergenic B3GAT2(dist=112775),OGFRL1(dist=218582) chr6 71779563 71779563 A G het . 1 +intergenic B3GAT2(dist=208311),OGFRL1(dist=123046) chr6 71875099 71875099 G T het . 31 +intergenic LINC01626(dist=3958),RIMS1(dist=423873) chr6 72172533 72172533 A T het . 2 +intergenic LINC01626(dist=72122),RIMS1(dist=355709) chr6 72240697 72240697 A G het . 1 +intergenic LINC01626(dist=85727),RIMS1(dist=342104) chr6 72254302 72254302 T C het . 2 +intergenic LINC01626(dist=92404),RIMS1(dist=335427) chr6 72260979 72260979 - A het . 11 +intergenic LINC01626(dist=92406),RIMS1(dist=335424) chr6 72260981 72260982 CG - het . 11 +intergenic LINC01626(dist=92418),RIMS1(dist=335413) chr6 72260993 72260993 T G het . 13 +intergenic LINC01626(dist=122904),RIMS1(dist=304927) chr6 72291479 72291479 T G het . 3 +intergenic LINC01626(dist=122959),RIMS1(dist=304872) chr6 72291534 72291534 T G het . 4 +intergenic LINC01626(dist=126636),RIMS1(dist=301195) chr6 72295211 72295211 A T het . 3 +intronic RIMS1 chr6 72700337 72700337 G A het . 1 +intronic RIMS1 chr6 72770691 72770691 T C het . 2 +intronic RIMS1 chr6 72836421 72836421 A C het . 12 +intronic RIMS1 chr6 72877600 72877600 G A het . 2 +intronic RIMS1 chr6 72877607 72877609 TTT - het . 1 +intronic RIMS1 chr6 72947379 72947379 A - het . 11 +intronic RIMS1 chr6 73102219 73102219 T C het . 10 +intergenic RIMS1(dist=100027),KCNQ5(dist=118699) chr6 73212872 73212872 A T het . 2 +intergenic RIMS1(dist=195628),KCNQ5(dist=23098) chr6 73308473 73308473 A C het . 24 +intergenic RIMS1(dist=195649),KCNQ5(dist=23077) chr6 73308494 73308494 A G het . 22 +intergenic RIMS1(dist=195668),KCNQ5(dist=23058) chr6 73308513 73308513 T G het . 23 +intronic KCNQ5 chr6 73722587 73722587 - A het . 2 +intronic KCNQ5 chr6 73809908 73809908 A G het . 1 +intronic KHDC1 chr6 73952103 73952103 A C het . 12 +intronic KHDC1 chr6 73952109 73952109 C A het . 14 +intronic KHDC1 chr6 73952112 73952113 GG TA het . 14 +intronic KHDC1 chr6 73952118 73952118 A G het . 13 +intronic KHDC1 chr6 73980302 73980302 G T het . 3 +intergenic KHDC1(dist=17892),DPPA5(dist=24952) chr6 74037830 74037833 ACAA - het . 5 +upstream DDX43(dist=377) chr6 74103908 74103908 T - het . 6 +exonic CGAS chr6 74155261 74155261 G A het . 18 +intronic MTO1 chr6 74201813 74201813 C T het . 8 +intronic MTO1 chr6 74201827 74201830 AAAA - het . 7 +ncRNA_intronic SNORD141A,SNORD141B chr6 74228049 74228049 A G het . 14 +ncRNA_intronic SNORD141A,SNORD141B chr6 74228062 74228062 A C het . 19 +intronic EEF1A1 chr6 74229258 74229258 G T het . 3 +intronic EEF1A1 chr6 74229792 74229792 A G het . 8 +intronic SLC17A5 chr6 74310232 74310233 TT - het . 6 +intronic CD109 chr6 74432663 74432663 A C het . 3 +intronic CD109 chr6 74476259 74476260 TA - het . 3 +intronic CD109 chr6 74490836 74490836 G A het . 7 +intronic CD109 chr6 74490863 74490863 T A het . 10 +intronic CD109 chr6 74498433 74498435 AAG - het . 3 +intergenic CD109(dist=15701),LOC101928516(dist=225425) chr6 74553742 74553742 - A het . 3 +ncRNA_intronic LOC101928516 chr6 74852646 74852646 A G het . 2 +ncRNA_intronic LOC101928516 chr6 74852695 74852696 TT - het . 2 +ncRNA_intronic LOC101928516 chr6 74852709 74852709 T C het . 2 +ncRNA_intronic LOC101928516 chr6 74922983 74922983 - AAA het . 3 +ncRNA_intronic LOC101928516 chr6 74925393 74925393 G A het . 2 +ncRNA_intronic LOC101928516 chr6 74925782 74925782 A T het . 2 +ncRNA_intronic LOC101928516 chr6 74925784 74925784 A T het . 2 +ncRNA_intronic LOC101928516 chr6 74965835 74965835 A G het . 2 +ncRNA_intronic LOC101928516 chr6 74965855 74965855 A T het . 1 +ncRNA_intronic LOC101928516 chr6 75120831 75120831 G A het . 2 +intergenic LOC101928516(dist=29706),COL12A1(dist=363893) chr6 75430149 75430149 C A het . 2 +intergenic LOC101928516(dist=29721),COL12A1(dist=363878) chr6 75430164 75430164 G A het . 2 +intergenic LOC101928516(dist=32313),COL12A1(dist=361286) chr6 75432756 75432756 C T het . 2 +intergenic LOC101928516(dist=41847),COL12A1(dist=351752) chr6 75442290 75442290 C T het . 1 +UTR3 COL12A1(NM_004370:c.*1140_*1141insTGTG,NM_080645:c.*1140_*1141insTGTG) chr6 75795122 75795122 - CACA het . 6 +intronic COL12A1 chr6 75796365 75796368 TATA - het . 8 +intronic COL12A1 chr6 75798722 75798722 C A het . 7 +intronic COL12A1 chr6 75804916 75804916 - GG het . 8 +exonic COL12A1 chr6 75875361 75875361 C A het . 36 +intronic COL12A1 chr6 75890934 75890934 A - het . 8 +intronic FILIP1 chr6 76028757 76028757 G A het . 19 +intronic FILIP1 chr6 76037293 76037293 T C het . 1 +intronic SENP6 chr6 76333486 76333486 G A het . 4 +exonic MYO6 chr6 76540184 76540184 A G het . 47 +intronic MYO6 chr6 76545684 76545684 T C het . 28 +intronic MYO6 chr6 76589399 76589399 C T het . 6 +intronic IMPG1 chr6 76717020 76717020 T - het . 6 +intronic IMPG1 chr6 76717035 76717035 C A het . 7 +intronic IMPG1 chr6 76769132 76769132 G A het . 2 +intergenic IMPG1(dist=166786),LINC02540(dist=282985) chr6 76949181 76949181 C A het . 2 +intergenic IMPG1(dist=406047),LINC02540(dist=43724) chr6 77188442 77188442 G A het . 3 +intergenic LINC02540(dist=93363),HTR1B(dist=773862) chr6 77396703 77396703 A C het . 1 +intergenic LINC02540(dist=396741),HTR1B(dist=470484) chr6 77700081 77700081 G T het . 4 +intergenic LINC02540(dist=411322),HTR1B(dist=455903) chr6 77714662 77714662 A G het . 3 +intergenic LINC02540(dist=641758),HTR1B(dist=225467) chr6 77945098 77945098 A T het . 1 +intergenic HTR1B(dist=19599),MEI4(dist=166652) chr6 78193338 78193339 AT - het . 3 +intergenic HTR1B(dist=72499),MEI4(dist=113752) chr6 78246238 78246239 TG - het . 2 +intergenic MEI4(dist=309184),IRAK1BP1(dist=631318) chr6 78945943 78945943 G C het . 2 +intergenic MEI4(dist=460028),IRAK1BP1(dist=480474) chr6 79096787 79096787 C T het . 2 +intergenic MEI4(dist=550768),IRAK1BP1(dist=389734) chr6 79187527 79187527 C T het . 2 +intergenic MEI4(dist=596047),IRAK1BP1(dist=344455) chr6 79232806 79232806 C T het . 2 +intergenic MEI4(dist=610307),IRAK1BP1(dist=330195) chr6 79247066 79247066 G A het . 1 +intergenic MEI4(dist=793270),IRAK1BP1(dist=147232) chr6 79430029 79430029 G A het . 2 +intronic IRAK1BP1 chr6 79595167 79595167 - CTTAT het . 17 +intergenic IRAK1BP1(dist=2068),PHIP(dist=31385) chr6 79612751 79612751 T C het . 20 +exonic PHIP chr6 79650986 79650986 C A het . 29 +intronic PHIP chr6 79697855 79697855 G A het . 6 +intergenic PHIP(dist=7319),HMGN3(dist=115628) chr6 79795334 79795334 T C het . 2 +intergenic PHIP(dist=23701),HMGN3(dist=99246) chr6 79811716 79811716 T A het . 2 +intronic HMGN3 chr6 79913380 79913380 A - het . 7 +intergenic HMGN3-AS1(dist=20273),LCAL1(dist=50596) chr6 79966790 79966790 C T het . 1 +intergenic HMGN3-AS1(dist=25746),LCAL1(dist=45123) chr6 79972263 79972263 C T het . 1 +intergenic HMGN3-AS1(dist=36740),LCAL1(dist=34127) chr6 79983257 79983259 AAA - het . 3 +intergenic HMGN3-AS1(dist=36747),LCAL1(dist=34122) chr6 79983264 79983264 G T het . 3 +intronic LCA5 chr6 80201520 80201521 TA - het . 17 +intergenic LCA5(dist=79770),SH3BGRL2(dist=13905) chr6 80326917 80326917 A - het . 2 +intronic TTK chr6 80720488 80720490 CAT - het . 15 +intronic TTK chr6 80720491 80720491 - AAAGA het . 15 +intronic TTK chr6 80724156 80724156 T C het . 10 +intronic TTK chr6 80741328 80741328 G A het . 11 +intronic TTK chr6 80750093 80750093 C G het . 4 +intergenic TTK(dist=25364),BCKDHB(dist=38719) chr6 80777608 80777608 G A het . 10 +intergenic TTK(dist=41617),BCKDHB(dist=22466) chr6 80793861 80793861 C A het . 2 +intronic BCKDHB chr6 80837239 80837239 A G het . 28 +intronic BCKDHB chr6 80837253 80837253 G T het . 27 +intronic BCKDHB chr6 81042644 81042645 AA - het . 3 +intergenic BCKDHB(dist=52523),TENT5A(dist=1346937) chr6 81108510 81108510 G A het . 2 +intergenic BCKDHB(dist=97437),TENT5A(dist=1302023) chr6 81153424 81153424 A T het . 3 +intergenic BCKDHB(dist=258740),TENT5A(dist=1140720) chr6 81314727 81314727 - TT het . 1 +intergenic BCKDHB(dist=258749),TENT5A(dist=1140711) chr6 81314736 81314736 - T het . 2 +intergenic BCKDHB(dist=419234),TENT5A(dist=980226) chr6 81475221 81475221 C T het . 4 +intergenic BCKDHB(dist=481642),TENT5A(dist=917818) chr6 81537629 81537629 A - het . 2 +intergenic BCKDHB(dist=498539),TENT5A(dist=900921) chr6 81554526 81554526 A G het . 1 +intergenic BCKDHB(dist=1034018),TENT5A(dist=365442) chr6 82090005 82090005 C T het . 1 +ncRNA_intronic LINC02542 chr6 82772464 82772464 T A het . 2 +intronic IBTK chr6 82884523 82884523 T A het . 6 +intronic IBTK chr6 82884528 82884528 A C het . 6 +intronic IBTK chr6 82923669 82923669 T G het . 2 +intronic IBTK chr6 82923672 82923672 - A het . 2 +intronic IBTK chr6 82941779 82941779 - T het . 2 +exonic TPBG chr6 83075031 83075031 C T het . 9 +intergenic TPBG(dist=74930),UBE3D(dist=450054) chr6 83152063 83152063 A T het . 1 +intergenic TPBG(dist=354325),UBE3D(dist=170659) chr6 83431458 83431458 A G het . 1 +intergenic TPBG(dist=433988),UBE3D(dist=90996) chr6 83511121 83511121 A T het . 3 +intergenic TPBG(dist=453309),UBE3D(dist=71675) chr6 83530442 83530442 A C het . 2 +intergenic TPBG(dist=480055),UBE3D(dist=44929) chr6 83557188 83557188 C G het . 2 +intergenic TPBG(dist=480067),UBE3D(dist=44917) chr6 83557200 83557200 C A het . 1 +intronic UBE3D chr6 83759714 83759714 T C het . 5 +intronic DOP1A chr6 83814945 83814945 C T het . 7 +intronic ME1 chr6 83926138 83926138 A G het . 14 +intronic ME1 chr6 84117415 84117415 T G het . 7 +intronic PRSS35 chr6 84226471 84226471 T C het . 2 +intergenic PRSS35(dist=11277),SNAP91(dist=15907) chr6 84246698 84246698 - TCTT het . 2 +intronic SNAP91 chr6 84290138 84290141 AAAG - het . 3 +intronic SNAP91 chr6 84335225 84335225 A G het . 2 +intronic SNAP91 chr6 84372215 84372215 T - het . 14 +intronic CYB5R4 chr6 84569603 84569606 CCCC - het . 13 +intronic CYB5R4 chr6 84649735 84649735 T - het . 5 +intronic CYB5R4 chr6 84650215 84650215 T - het . 13 +intronic CEP162 chr6 84870524 84870524 C A het . 24 +intronic CEP162 chr6 84884394 84884394 T - het . 13 +exonic CEP162 chr6 84884494 84884494 T C het . 29 +intronic CEP162 chr6 84904847 84904847 C T het . 5 +downstream LINC01611(dist=342) chr6 85130409 85130409 T C het . 2 +intergenic TBX18(dist=331855),LINC02535(dist=291128) chr6 85805809 85805809 C T het . 1 +intergenic TBX18(dist=502389),LINC02535(dist=120591) chr6 85976343 85976346 TTTA - het . 3 +exonic NT5E chr6 86160023 86160023 C T het . 27 +UTR3 NT5E(NM_002526:c.*241C>T,NM_001204813:c.*241C>T) chr6 86203963 86203963 C T het . 4 +splicing SNX14(NM_001350547:exon19:c.845-1G>T,NM_001350546:exon19:c.1451-1G>T,NM_001350545:exon19:c.1451-1G>T,NM_001350544:exon20:c.1595-1G>T,NM_001350535:exon20:c.1892-1G>T,NM_001350534:exon19:c.1865-1G>T,NM_001297614:exon19:c.1868-1G>T,NM_001350548:exon18:c.740-1G>T,NM_001350549:exon20:c.740-1G>T,NM_001350532:exon21:c.1958-1G>T,NM_001350533:exon20:c.1892-1G>T,NM_001350542:exon18:c.1607-1G>T,NM_001350543:exon18:c.1604-1G>T,NM_001350541:exon19:c.1868-1G>T,NM_001350539:exon20:c.1736-1G>T,NM_001350536:exon18:c.1763-1G>T,NM_001304479:exon20:c.1739-1G>T,NM_001350540:exon20:c.1895-1G>T,NM_001350538:exon20:c.1751-1G>T,NM_001350537:exon18:c.1760-1G>T,NM_001350550:exon20:c.740-1G>T,NM_153816:exon20:c.1895-1G>T,NM_001350553:exon19:c.713-1G>T,NM_001350552:exon20:c.740-1G>T,NM_001350551:exon19:c.740-1G>T,NM_020468:exon17:c.1736-1G>T) chr6 86238081 86238081 C A het . 15 +intronic SNX14 chr6 86257192 86257192 C A het . 37 +intronic SNX14 chr6 86272376 86272376 C T het . 2 +intronic SYNCRIP chr6 86347190 86347191 AA - het . 4 +ncRNA_exonic SNORD50A chr6 86387036 86387036 - T het . 13 +intergenic SNHG5(dist=40643),HTR1E(dist=1217930) chr6 86429094 86429094 - A het . 2 +intergenic SNHG5(dist=159749),HTR1E(dist=1098824) chr6 86548200 86548200 T C het . 4 +intergenic SNHG5(dist=159775),HTR1E(dist=1098798) chr6 86548226 86548226 C T het . 2 +intergenic SNHG5(dist=535543),HTR1E(dist=723030) chr6 86923994 86923994 T A het . 4 +intergenic SNHG5(dist=729105),HTR1E(dist=529465) chr6 87117556 87117559 TTTC - het . 2 +intergenic SNHG5(dist=835693),HTR1E(dist=422880) chr6 87224144 87224144 A - het . 2 +intergenic SNHG5(dist=861271),HTR1E(dist=397302) chr6 87249722 87249722 T C het . 2 +intergenic SNHG5(dist=908638),HTR1E(dist=349935) chr6 87297089 87297089 C G het . 2 +intergenic SNHG5(dist=965401),HTR1E(dist=293172) chr6 87353852 87353852 - AAAG het . 3 +intergenic SNHG5(dist=979616),HTR1E(dist=278957) chr6 87368067 87368067 T C het . 2 +exonic HTR1E chr6 87725901 87725901 C A het . 12 +intronic CGA chr6 87795863 87795863 G T het . 4 +UTR5 ZNF292(NM_001351444:c.-63055C>A,NM_015021:c.-33C>A) chr6 87865277 87865277 C A het . 12 +intronic ZNF292 chr6 87877138 87877138 C A het . 2 +intronic ZNF292 chr6 87879376 87879376 T C het . 8 +intronic ZNF292 chr6 87879378 87879378 C T het . 8 +exonic ZNF292 chr6 87969480 87969480 G A het . 21 +exonic ZNF292 chr6 87970633 87970633 G A het . 31 +intronic GJB7 chr6 88004758 88004758 C T het . 1 +ncRNA_exonic LINC01590 chr6 88108049 88108051 GAT - het . 9 +intronic SLC35A1 chr6 88210468 88210468 T - het . 9 +intronic SLC35A1 chr6 88221098 88221098 T - het . 25 +intronic RARS2 chr6 88246344 88246344 G A het . 1 +intronic RARS2 chr6 88255204 88255204 A G het . 4 +intronic RARS2 chr6 88255274 88255274 A G het . 17 +intronic RARS2 chr6 88255424 88255424 A G het . 37 +intronic RARS2 chr6 88255438 88255438 T C het . 29 +intronic ORC3 chr6 88311404 88311404 T A het . 3 +intronic ORC3 chr6 88346287 88346287 G T het . 1 +upstream LOC101928911(dist=612) chr6 88493966 88493966 C T het . 1 +ncRNA_intronic LOC101928911 chr6 88570405 88570405 A G het . 2 +ncRNA_intronic LOC101928911 chr6 88603026 88603026 A G het . 2 +intergenic LOC101928911(dist=72776),SPACA1(dist=63282) chr6 88694225 88694225 T C het . 2 +intergenic SPACA1(dist=28332),CNR1(dist=44703) chr6 88804882 88804882 T C het . 3 +intergenic SPACA1(dist=28357),CNR1(dist=44678) chr6 88804907 88804907 T C het . 4 +intergenic CNR1(dist=17660),LOC101928936(dist=342216) chr6 88893427 88893427 C G het . 1 +intergenic CNR1(dist=36800),LOC101928936(dist=323076) chr6 88912567 88912567 A - het . 2 +ncRNA_exonic LOC101928936 chr6 89236632 89236632 T C het . 2 +intronic RNGTT chr6 89428107 89428107 A G het . 1 +intronic RNGTT chr6 89626533 89626533 T C het . 7 +intronic RNGTT chr6 89638989 89638989 A - het . 13 +intergenic RNGTT(dist=96127),PNRC1(dist=20954) chr6 89769475 89769475 C G het . 35 +UTR5 PNRC1(NM_006813:c.-54_-51del-) chr6 89790560 89790563 TTCA - het . 9 +intergenic PNRC1(dist=5173),SRSF12(dist=5625) chr6 89800052 89800053 TT - het . 2 +intergenic PNRC1(dist=8717),SRSF12(dist=2082) chr6 89803596 89803596 A G het . 3 +intergenic PNRC1(dist=8747),SRSF12(dist=2052) chr6 89803626 89803626 A T het . 3 +intronic SRSF12 chr6 89827455 89827455 C A het . 5 +UTR5 SRSF12(NM_080743:c.-110G>C) chr6 89827716 89827716 C G het . 4 +intronic GABRR1 chr6 89914187 89914187 T C het . 4 +exonic GABRR2 chr6 89967498 89967498 G A het . 39 +intronic GABRR2 chr6 89977322 89977322 - T het . 9 +intronic RRAGD chr6 90087577 90087577 C A het . 11 +intronic ANKRD6 chr6 90338816 90338816 - T het . 19 +exonic MDN1 chr6 90368355 90368355 G A het . 9 +exonic MDN1 chr6 90409402 90409402 T G het . 17 +intronic MDN1 chr6 90448333 90448333 T C het . 10 +exonic MDN1 chr6 90504454 90504454 A G het . 19 +intronic CASP8AP2 chr6 90547102 90547102 T C het . 2 +intronic CASP8AP2 chr6 90570713 90570713 A G het . 2 +intronic BACH2 chr6 90723711 90723711 C T het . 1 +exonic MAP3K7 chr6 91296568 91296570 GAG - het . 8 +intergenic MAP3K7(dist=81078),MIR4643(dist=853280) chr6 91378098 91378098 C T het . 1 +intergenic MAP3K7(dist=357645),MIR4643(dist=576713) chr6 91654665 91654665 C A het . 2 +intergenic MAP3K7(dist=919138),MIR4643(dist=15220) chr6 92216158 92216158 T - het . 2 +intergenic MIR4643(dist=85668),CASC6(dist=21635) chr6 92317123 92317123 A C het . 1 +intergenic CASC6(dist=125480),EPHA7(dist=1424114) chr6 92525626 92525626 C T het . 18 +intergenic CASC6(dist=221492),EPHA7(dist=1328097) chr6 92621638 92621643 AAGAAG - het . 3 +intergenic CASC6(dist=350251),EPHA7(dist=1199343) chr6 92750397 92750397 G T het . 1 +intergenic CASC6(dist=350271),EPHA7(dist=1199323) chr6 92750417 92750417 C T het . 1 +intergenic CASC6(dist=631266),EPHA7(dist=918328) chr6 93031412 93031412 C T het . 2 +intergenic CASC6(dist=660653),EPHA7(dist=888941) chr6 93060799 93060799 T C het . 1 +intergenic CASC6(dist=1191309),EPHA7(dist=358285) chr6 93591455 93591455 T G het . 4 +intergenic EPHA7(dist=28841),TSG1(dist=255593) chr6 94158141 94158142 CC - het . 3 +intergenic EPHA7(dist=51529),TSG1(dist=232906) chr6 94180829 94180829 A C het . 1 +intergenic EPHA7(dist=74928),TSG1(dist=209507) chr6 94204228 94204228 G A het . 3 +intergenic TSG1(dist=444390),MANEA-DT(dist=1077244) chr6 94930728 94930728 - CA het . 3 +intergenic TSG1(dist=455905),MANEA-DT(dist=1065729) chr6 94942243 94942243 A - het . 6 +intergenic TSG1(dist=625008),MANEA-DT(dist=896626) chr6 95111346 95111346 T - het . 2 +intergenic TSG1(dist=716591),MANEA-DT(dist=805040) chr6 95202929 95202932 TGTT - het . 5 +intergenic TSG1(dist=851829),MANEA-DT(dist=669805) chr6 95338167 95338167 T A het . 2 +intergenic TSG1(dist=1476187),MANEA-DT(dist=45447) chr6 95962525 95962525 - A het . 3 +intergenic MANEA(dist=71740),FUT9(dist=334777) chr6 96129068 96129068 A C het . 2 +intergenic MANEA(dist=80468),FUT9(dist=326049) chr6 96137796 96137796 C T het . 1 +intergenic MANEA(dist=213216),FUT9(dist=193301) chr6 96270544 96270544 T G het . 2 +intergenic MANEA(dist=265675),FUT9(dist=140842) chr6 96323003 96323003 G A het . 2 +intergenic MANEA(dist=386464),FUT9(dist=20053) chr6 96443792 96443792 C T het . 2 +intronic FUT9 chr6 96475805 96475805 A T het . 2 +intronic FUT9 chr6 96558310 96558310 A G het . 1 +intronic FUT9 chr6 96571975 96571975 G A het . 3 +intronic FUT9 chr6 96603561 96603561 G A het . 2 +intronic FUT9 chr6 96631772 96631772 G A het . 2 +intronic UFL1 chr6 96974386 96974386 A G het . 5 +intergenic FHL5(dist=14985),GPR63(dist=160513) chr6 97081485 97081485 T - het . 2 +intergenic FHL5(dist=15009),GPR63(dist=160489) chr6 97081509 97081509 T G het . 2 +intronic NDUFAF4 chr6 97339275 97339275 - A het . 26 +intronic KLHL32 chr6 97416270 97416270 A C het . 2 +intronic KLHL32 chr6 97532863 97532863 T - het . 5 +ncRNA_intronic MIR548H3 chr6 97575196 97575196 C T het . 7 +ncRNA_intronic MIR548H3 chr6 97615908 97615908 T - het . 5 +ncRNA_intronic MIR548H3 chr6 97679541 97679541 A - het . 18 +ncRNA_intronic MIR548H3 chr6 97694582 97694582 - TAG het . 16 +ncRNA_intronic MIR548H3 chr6 97702314 97702317 ATTT - het . 17 +ncRNA_intronic MIR548H3 chr6 97729402 97729402 T A het . 3 +ncRNA_intronic LOC101927314,MIR548H3 chr6 97778938 97778938 - AT het . 3 +ncRNA_intronic LOC101927314,MIR548H3 chr6 97782940 97782940 G A het . 4 +ncRNA_intronic LOC101927314 chr6 98144178 98144178 A T het . 2 +intergenic LOC101927314(dist=234308),MIR2113(dist=81306) chr6 98391101 98391101 A G het . 4 +intergenic MIR2113(dist=12139),PNKY(dist=793383) chr6 98484634 98484634 C A het . 2 +intergenic MIR2113(dist=105574),PNKY(dist=699948) chr6 98578069 98578069 T - het . 2 +intergenic MIR2113(dist=782088),PNKY(dist=23429) chr6 99254583 99254588 TTTGTT - het . 2 +intergenic MIR2113(dist=782121),PNKY(dist=23401) chr6 99254616 99254616 G A het . 2 +intergenic MIR548AI(dist=21754),FAXC(dist=124711) chr6 99594326 99594326 C T het . 2 +intergenic MIR548AI(dist=49961),FAXC(dist=96504) chr6 99622533 99622533 A - het . 11 +intergenic MIR548AI(dist=50000),FAXC(dist=96465) chr6 99622572 99622572 A G het . 14 +intronic FAXC chr6 99755809 99755809 A G het . 1 +intronic COQ3 chr6 99841845 99841845 C A het . 3 +intronic COQ3 chr6 99841907 99841907 T G het . 7 +exonic PNISR chr6 99858815 99858815 T G het . 8 +intronic USP45 chr6 99928280 99928280 A G het . 2 +intronic CCNC chr6 99997371 99997371 C A het . 21 +exonic MCHR2 chr6 100390957 100390957 C T het . 18 +exonic MCHR2 chr6 100395668 100395668 C A het . 11 +exonic MCHR2 chr6 100395804 100395804 C A het . 22 +intergenic MCHR2-AS1(dist=28827),SIM1(dist=283628) chr6 100553122 100553122 - T het . 4 +intergenic MCHR2-AS1(dist=94438),SIM1(dist=218017) chr6 100618733 100618733 T - het . 3 +intergenic MCHR2-AS1(dist=101284),SIM1(dist=211171) chr6 100625579 100625579 C T het . 3 +intergenic MCHR2-AS1(dist=130525),SIM1(dist=181930) chr6 100654820 100654820 A - het . 2 +intronic ASCC3 chr6 100957764 100957764 A - het . 11 +exonic ASCC3 chr6 100957884 100957884 C A het . 33 +intronic ASCC3 chr6 101145293 101145293 A - het . 2 +intronic ASCC3 chr6 101201181 101201181 - A het . 3 +intronic ASCC3 chr6 101201186 101201186 C A het . 3 +intronic ASCC3 chr6 101201191 101201191 - A het . 2 +intronic ASCC3 chr6 101214304 101214304 T C het . 9 +intronic ASCC3 chr6 101246563 101246563 T C het . 20 +intronic ASCC3 chr6 101246803 101246803 T C het . 20 +intronic ASCC3 chr6 101254091 101254091 G T het . 2 +intronic ASCC3 chr6 101254799 101254799 T C het . 2 +intronic ASCC3 chr6 101270498 101270498 C G het . 1 +intronic ASCC3 chr6 101324740 101324740 C T het . 2 +intronic ASCC3 chr6 101328551 101328551 G A het . 2 +intergenic ASCC3(dist=383146),GRIK2(dist=134467) chr6 101712394 101712394 C T het . 8 +intergenic ASCC3(dist=383151),GRIK2(dist=134462) chr6 101712399 101712399 C T het . 8 +intronic GRIK2 chr6 101873873 101873873 G C het . 1 +intronic GRIK2 chr6 101891945 101891945 T G het . 8 +intronic GRIK2 chr6 101901973 101901973 A C het . 2 +intronic GRIK2 chr6 102337497 102337497 G T het . 1 +intronic GRIK2 chr6 102339392 102339396 AAAAA - het . 8 +intergenic GRIK2(dist=391569),NONE(dist=NONE) chr6 102909527 102909527 G T het . 3 +intergenic GRIK2(dist=435713),NONE(dist=NONE) chr6 102953671 102953671 C G het . 2 +intergenic GRIK2(dist=993602),HACE1(dist=1664408) chr6 103511560 103511560 T G het . 2 +intergenic GRIK2(dist=1057616),HACE1(dist=1600394) chr6 103575574 103575574 C T het . 4 +intergenic GRIK2(dist=1117162),HACE1(dist=1540848) chr6 103635120 103635120 C T het . 2 +intergenic GRIK2(dist=1135140),HACE1(dist=1522870) chr6 103653098 103653098 C T het . 8 +intergenic GRIK2(dist=1504810),HACE1(dist=1153200) chr6 104022768 104022768 C T het . 1 +intergenic GRIK2(dist=1663641),HACE1(dist=994369) chr6 104181599 104181599 C T het . 6 +intergenic GRIK2(dist=1847914),HACE1(dist=810096) chr6 104365872 104365872 A G het . 2 +intergenic GRIK2(dist=2015599),HACE1(dist=642411) chr6 104533557 104533557 T C het . 1 +intergenic NONE(dist=NONE),HACE1(dist=544456) chr6 104631512 104631512 T G het . 2 +intergenic NONE(dist=NONE),HACE1(dist=289933) chr6 104886035 104886035 A T het . 2 +intergenic NONE(dist=NONE),HACE1(dist=281735) chr6 104894233 104894233 G A het . 3 +intronic HACE1 chr6 105233245 105233245 A - het . 20 +intronic HACE1 chr6 105259123 105259126 ATAT - het . 4 +intronic HACE1 chr6 105259152 105259152 C T het . 16 +intronic HACE1 chr6 105280773 105280773 - A het . 18 +intronic HACE1 chr6 105296952 105296952 G A het . 18 +intronic LIN28B chr6 105405220 105405220 - C het . 4 +intronic LIN28B chr6 105413370 105413370 T C het . 2 +intronic LIN28B chr6 105499314 105499314 A - het . 2 +intronic BVES chr6 105577224 105577224 A C het . 10 +upstream BVES,BVES-AS1(dist=51) chr6 105585511 105585511 G A het . 2 +intronic PREP chr6 105771053 105771053 C A het . 16 +intronic PREP chr6 105771166 105771166 C A het . 6 +intronic PREP chr6 105810518 105810518 C A het . 3 +intronic PREP chr6 105810523 105810523 C G het . 2 +intergenic PREP(dist=59335),PRDM1(dist=623861) chr6 105910334 105910334 G A het . 2 +intergenic PREP(dist=154460),PRDM1(dist=528736) chr6 106005459 106005459 - T het . 2 +intergenic PREP(dist=264498),PRDM1(dist=418698) chr6 106115497 106115497 C T het . 4 +intergenic PREP(dist=322487),PRDM1(dist=360709) chr6 106173486 106173486 C T het . 2 +intergenic PREP(dist=594720),PRDM1(dist=88476) chr6 106445719 106445719 T A het . 2 +intronic ATG5 chr6 106740989 106740989 T C het . 27 +intergenic ATG5(dist=36137),LOC105377924(dist=89539) chr6 106809832 106809832 A C het . 1 +ncRNA_intronic LOC105377924 chr6 106899793 106899793 C T het . 3 +UTR5 CRYBG1(NM_001624:c.-32C>A) chr6 106960185 106960185 C A het . 12 +exonic CRYBG1 chr6 106960889 106960889 T G het . 14 +intronic CRYBG1 chr6 107001147 107001147 C T het . 5 +intronic CRYBG1 chr6 107004452 107004452 G A het . 1 +intronic RTN4IP1 chr6 107031492 107031492 C A het . 5 +intronic QRSL1 chr6 107109000 107109000 T G het . 2 +intronic QRSL1 chr6 107113509 107113509 A G het . 2 +intergenic LINC02526(dist=4845),LINC02532(dist=12610) chr6 107152714 107152717 AAAC - het . 2 +intergenic LINC02526(dist=6576),LINC02532(dist=10882) chr6 107154445 107154445 G A het . 2 +intergenic LINC02532(dist=98275),C6orf203(dist=15685) chr6 107333691 107333691 T G het . 2 +intronic C6orf203 chr6 107356332 107356332 G C het . 2 +exonic BEND3 chr6 107389976 107389976 C A het . 14 +intronic PDSS2 chr6 107595168 107595168 C A het . 24 +intronic PDSS2 chr6 107712327 107712327 T - het . 2 +intronic PDSS2 chr6 107746878 107746878 T C het . 1 +intronic PDSS2 chr6 107766147 107766147 G A het . 2 +intronic SOBP chr6 107954417 107954417 G T het . 3 +intergenic SOBP(dist=31839),SCML4(dist=9009) chr6 108014352 108014352 T C het . 1 +intergenic SOBP(dist=31844),SCML4(dist=9004) chr6 108014357 108014357 T C het . 1 +intergenic SCML4(dist=13608),SEC63(dist=29831) chr6 108159129 108159129 T G het . 2 +intergenic SCML4(dist=37119),SEC63(dist=6320) chr6 108182640 108182640 G A het . 2 +UTR3 SEC63(NM_007214:c.*3431A>C) chr6 108189477 108189477 T G het . 2 +intronic SEC63 chr6 108232650 108232650 C A het . 38 +intronic SEC63 chr6 108277287 108277287 C A het . 10 +intergenic SEC63(dist=26760),OSTM1(dist=56371) chr6 108306242 108306242 T C het . 3 +intergenic OSTM1(dist=23218),OSTM1-AS1(dist=25678) chr6 108419159 108419159 - ACAA het . 4 +intronic NR2E1 chr6 108495950 108495950 G A het . 9 +intronic FOXO3 chr6 108906200 108906200 C T het . 4 +intronic CEP57L1 chr6 109446727 109446727 A T het . 1 +intronic CEP57L1 chr6 109480682 109480682 T - het . 12 +ncRNA_intronic CCDC162P chr6 109576420 109576420 T C het . 4 +ncRNA_intronic CCDC162P chr6 109585298 109585298 G A het . 3 +ncRNA_intronic CCDC162P chr6 109586240 109586240 A G het . 2 +ncRNA_intronic CCDC162P chr6 109591586 109591586 A G het . 6 +ncRNA_intronic CCDC162P chr6 109636205 109636205 T C het . 2 +ncRNA_intronic CCDC162P chr6 109649160 109649160 T - het . 15 +intergenic CD164(dist=3267),PPIL6(dist=4134) chr6 109707282 109707284 AAA - het . 2 +UTR5;UTR3 MICAL1(NM_001286613:c.-100A>G);ZBTB24(NM_014797:c.*74A>G) chr6 109786980 109786980 T C het . 14 +UTR5;UTR3 MICAL1(NM_001286613:c.-131G>T);ZBTB24(NM_014797:c.*43G>T) chr6 109787011 109787011 C A het . 21 +intronic AK9 chr6 109830298 109830298 C T het . 3 +intronic AK9 chr6 109850200 109850201 AC - het . 16 +exonic AK9 chr6 109906330 109906332 CTT - het . 16 +intronic AK9 chr6 109940498 109940498 A G het . 5 +intronic AK9 chr6 109940525 109940525 C T het . 3 +intronic AK9 chr6 109995509 109995509 T C het . 13 +intronic FIG4 chr6 110053824 110053824 - T het . 27 +intronic FIG4 chr6 110054005 110054005 G T het . 5 +intergenic FIG4(dist=90577),GPR6(dist=62248) chr6 110237211 110237211 - TTC het . 6 +UTR5 GPR6(NM_005284:c.-720T>C,NM_001286099:c.-383T>C) chr6 110299596 110299596 T C het . 1 +intergenic GPR6(dist=3910),WASF1(dist=115189) chr6 110305833 110305833 T A het . 2 +intronic METTL24 chr6 110568339 110568339 C T het . 3 +intronic METTL24 chr6 110644112 110644112 - G het . 3 +intronic DDO chr6 110736629 110736629 G A het . 19 +intronic SLC22A16 chr6 110777667 110777667 C A het . 6 +exonic SLC22A16 chr6 110777772 110777772 C A het . 7 +intergenic SLC22A16(dist=14418),CDK19(dist=118919) chr6 110812262 110812262 G A het . 1 +intronic CDK19 chr6 111024697 111024697 G A het . 2 +intronic CDK19 chr6 111027618 111027622 GTTTG - het . 2 +intronic CDK19 chr6 111035313 111035313 C T het . 1 +intronic AMD1 chr6 111208555 111208555 G A het . 4 +intronic AMD1 chr6 111213927 111213927 - C het . 2 +intronic REV3L chr6 111651561 111651561 A - het . 7 +intronic REV3L chr6 111686291 111686291 T A het . 7 +intronic REV3L chr6 111686292 111686292 - A het . 7 +exonic REV3L chr6 111695268 111695268 C T het . 23 +intronic REV3L chr6 111770604 111770604 - AA het . 2 +exonic FYN chr6 112015587 112015587 C A het . 15 +intronic WISP3 chr6 112381335 112381335 C A het . 4 +intronic WISP3 chr6 112381358 112381358 C A het . 5 +downstream LAMA4(dist=422) chr6 112428712 112428712 G A het . 2 +intronic LAMA4 chr6 112430886 112430886 T C het . 13 +intronic LAMA4 chr6 112435682 112435682 G A het . 2 +intronic LAMA4 chr6 112450351 112450351 G C het . 11 +intronic LAMA4 chr6 112450375 112450390 TGTGTGTGTGTGTGCA - het . 8 +intronic LAMA4 chr6 112460648 112460648 G A het . 4 +intronic LAMA4 chr6 112462505 112462505 C A het . 15 +intronic LAMA4 chr6 112471622 112471625 ACAA - het . 9 +intergenic RFPL4B(dist=297412),LINC02518(dist=779832) chr6 112969910 112969910 T A het . 1 +intergenic RFPL4B(dist=459857),LINC02518(dist=617387) chr6 113132355 113132355 A - het . 2 +intergenic RFPL4B(dist=571278),LINC02518(dist=505966) chr6 113243776 113243776 G C het . 7 +intergenic RFPL4B(dist=663163),LINC02518(dist=414081) chr6 113335661 113335661 T C het . 2 +intergenic RFPL4B(dist=702283),LINC02518(dist=374961) chr6 113374781 113374781 G A het . 1 +intergenic RFPL4B(dist=736070),LINC02518(dist=341174) chr6 113408568 113408568 A G het . 3 +intergenic RFPL4B(dist=736098),LINC02518(dist=341143) chr6 113408596 113408599 AGAA - het . 2 +intergenic RFPL4B(dist=745449),LINC02518(dist=331794) chr6 113417947 113417948 AG - het . 2 +intergenic RFPL4B(dist=750745),LINC02518(dist=326481) chr6 113423243 113423261 TTTGTTTTGTTTTGTTTTG - het . 4 +intergenic RFPL4B(dist=756313),LINC02518(dist=320931) chr6 113428811 113428811 G A het . 2 +intergenic RFPL4B(dist=756325),LINC02518(dist=320919) chr6 113428823 113428823 G T het . 2 +intergenic RFPL4B(dist=845608),LINC02518(dist=231636) chr6 113518106 113518106 G A het . 2 +intergenic RFPL4B(dist=845624),LINC02518(dist=231620) chr6 113518122 113518122 C T het . 1 +intergenic RFPL4B(dist=889536),LINC02518(dist=187708) chr6 113562034 113562034 C T het . 2 +intergenic RFPL4B(dist=957697),LINC02518(dist=119547) chr6 113630195 113630195 G C het . 1 +intergenic RFPL4B(dist=957700),LINC02518(dist=119544) chr6 113630198 113630198 - AAG het . 2 +intergenic RFPL4B(dist=966290),LINC02518(dist=110954) chr6 113638788 113638788 C T het . 1 +intergenic RFPL4B(dist=966297),LINC02518(dist=110947) chr6 113638795 113638795 T C het . 2 +intergenic RFPL4B(dist=1070899),LINC02518(dist=6345) chr6 113743397 113743397 T A het . 1 +intergenic LINC02518(dist=13519),LINC02541(dist=176569) chr6 113768168 113768168 G A het . 2 +intergenic LINC02541(dist=63055),MARCKS(dist=144182) chr6 114034332 114034332 A G het . 1 +intergenic LINC02541(dist=122436),MARCKS(dist=84801) chr6 114093713 114093713 G A het . 2 +UTR5 MARCKS(NM_002356:c.-91_-90insGCT) chr6 114178831 114178831 - GCT het . 6 +intronic HDAC2 chr6 114270267 114270267 C A het . 12 +intronic HDAC2 chr6 114274597 114274597 A G het . 5 +intronic HDAC2 chr6 114288328 114288328 G A het . 2 +ncRNA_intronic HDAC2-AS2 chr6 114378009 114378009 - A het . 2 +exonic HS3ST5 chr6 114378722 114378722 A T het . 31 +ncRNA_intronic HDAC2-AS2 chr6 114405803 114405803 A C het . 17 +ncRNA_intronic HDAC2-AS2 chr6 114405906 114405906 G T het . 44 +ncRNA_intronic HDAC2-AS2 chr6 114409574 114409574 T A het . 1 +ncRNA_intronic HDAC2-AS2 chr6 114486782 114486782 A G het . 1 +ncRNA_intronic HDAC2-AS2 chr6 114519972 114519972 A T het . 3 +ncRNA_intronic HDAC2-AS2 chr6 114529280 114529280 A G het . 2 +ncRNA_intronic HDAC2-AS2 chr6 114615063 114615063 T G het . 1 +intergenic HDAC2-AS2(dist=531752),LINC02534(dist=761061) chr6 115193645 115193645 C T het . 2 +intergenic HDAC2-AS2(dist=788479),LINC02534(dist=504334) chr6 115450372 115450372 G T het . 3 +intergenic HDAC2-AS2(dist=1290673),LINC02534(dist=2140) chr6 115952566 115952566 T A het . 2 +intergenic LINC02534(dist=178654),FRK(dist=119040) chr6 116143653 116143653 G A het . 2 +intronic FRK chr6 116305308 116305321 CCACTGTGTATCTA - het . 2 +intronic FRK chr6 116324898 116324898 A G het . 5 +exonic FRK chr6 116381358 116381358 C A het . 24 +intronic DSE chr6 116588606 116588606 G A het . 3 +intronic DSE chr6 116594973 116594973 A G het . 2 +exonic TSPYL1 chr6 116600453 116600453 C T het . 43 +exonic TSPYL1 chr6 116600465 116600465 - CAC het . 46 +intronic DSE chr6 116659333 116659336 TCTT - het . 2 +intronic RWDD1 chr6 116912034 116912034 T - het . 10 +intergenic RWDD1(dist=21065),RSPH4A(dist=1813) chr6 116935829 116935829 - CTTTT het . 4 +intronic RSPH4A chr6 116938520 116938520 T G het . 7 +intronic RSPH4A chr6 116944261 116944270 TTGTTTTGTT - het . 20 +exonic RSPH4A chr6 116953537 116953537 C A het . 29 +upstream KPNA5(dist=90) chr6 117002275 117002277 CCG - het . 5 +intronic KPNA5 chr6 117039928 117039928 T - het . 4 +intronic FAM162B chr6 117073894 117073894 T G het . 7 +intergenic GPRC6A(dist=15150),RFX6(dist=33006) chr6 117165370 117165370 A C het . 3 +intergenic RFX6(dist=282910),VGLL2(dist=50485) chr6 117536236 117536236 A G het . 2 +intronic ROS1 chr6 117631195 117631195 T C het . 9 +intronic ROS1 chr6 117650131 117650131 A T het . 2 +intronic ROS1 chr6 117658193 117658193 G C het . 4 +intronic ROS1 chr6 117663364 117663364 A G het . 4 +exonic ROS1 chr6 117683766 117683766 C A het . 19 +intronic ROS1 chr6 117725384 117725384 A - het . 8 +intergenic ROS1(dist=6532),DCBLD1(dist=50217) chr6 117753550 117753550 A - het . 9 +intergenic NUS1(dist=111028),SLC35F1(dist=85775) chr6 118142914 118142914 A T het . 3 +intergenic NUS1(dist=152947),SLC35F1(dist=43852) chr6 118184833 118184837 AAAAG - het . 2 +intronic SLC35F1 chr6 118247217 118247217 G T het . 2 +intronic SLC35F1 chr6 118328194 118328194 T - het . 2 +intronic SLC35F1 chr6 118475798 118475798 G A het . 5 +intronic SLC35F1 chr6 118556535 118556535 G A het . 9 +intronic SLC35F1 chr6 118625560 118625560 - AG het . 2 +downstream SLC35F1(dist=103) chr6 118638942 118638942 G A het . 2 +ncRNA_exonic BRD7P3 chr6 118822973 118822974 GA - het . 9 +intronic CEP85L chr6 119001289 119001289 - A het . 2 +intergenic CEP85L(dist=41329),SELENOKP3(dist=31304) chr6 119072567 119072567 G T het . 2 +intronic MCM9 chr6 119207220 119207220 A - het . 3 +intronic ASF1A,MCM9 chr6 119221823 119221823 C A het . 9 +intronic FAM184A chr6 119286371 119286372 TT - het . 2 +splicing FAM184A(NM_001288576:exon5:c.1170+1G>A,NM_001100411:exon5:c.1170+1G>A,NM_024581:exon5:c.1530+1G>A) chr6 119337911 119337911 C T het . 14 +intronic MAN1A1 chr6 119549717 119549717 T G het . 2 +intronic MAN1A1 chr6 119623079 119623080 AT GC het . 24 +intergenic MAN1A1(dist=36027),LOC285762(dist=66754) chr6 119706958 119706958 C A het . 2 +ncRNA_intronic LOC285762 chr6 119792613 119792613 G A het . 2 +ncRNA_intronic LOC285762 chr6 119792616 119792617 GG TT het . 2 +ncRNA_intronic LOC285762 chr6 119810545 119810545 C G het . 2 +intergenic MIR3144(dist=217218),TBC1D32(dist=847019) chr6 120553621 120553621 T A het . 2 +intergenic MIR3144(dist=529172),TBC1D32(dist=535065) chr6 120865575 120865575 - TT het . 2 +intergenic MIR3144(dist=610766),TBC1D32(dist=453471) chr6 120947169 120947169 - T het . 3 +intergenic MIR3144(dist=615515),TBC1D32(dist=448722) chr6 120951918 120951918 C T het . 1 +intergenic MIR3144(dist=634998),TBC1D32(dist=429239) chr6 120971401 120971401 C G het . 1 +intergenic MIR3144(dist=784577),TBC1D32(dist=279660) chr6 121120980 121120980 T - het . 2 +intergenic MIR3144(dist=927319),TBC1D32(dist=136915) chr6 121263722 121263725 GTTG - het . 2 +intronic TBC1D32 chr6 121432111 121432111 T C het . 2 +intronic TBC1D32 chr6 121526447 121526447 G C het . 6 +intronic TBC1D32 chr6 121526459 121526459 G T het . 5 +intronic TBC1D32 chr6 121526465 121526465 G T het . 5 +intronic TBC1D32 chr6 121584370 121584371 AC CA het . 2 +intronic TBC1D32 chr6 121602951 121602951 T C het . 7 +intronic TBC1D32 chr6 121655392 121655392 A G het . 4 +intergenic TBC1D32(dist=44689),GJA1(dist=56388) chr6 121700335 121700335 - T het . 2 +intergenic TBC1D32(dist=68659),GJA1(dist=32418) chr6 121724305 121724305 C - het . 2 +UTR3 GJA1(NM_000165:c.*2_*3insA) chr6 121769144 121769144 - A het . 37 +intergenic GJA1(dist=50442),HSF2(dist=899364) chr6 121821332 121821332 T - het . 4 +intergenic GJA1(dist=108803),HSF2(dist=841000) chr6 121879693 121879696 TTTG - het . 3 +intergenic GJA1(dist=130082),HSF2(dist=819724) chr6 121900972 121900972 - T het . 1 +intergenic GJA1(dist=234183),HSF2(dist=715623) chr6 122005073 122005073 A T het . 5 +intergenic GJA1(dist=366880),HSF2(dist=582926) chr6 122137770 122137770 C G het . 2 +intergenic GJA1(dist=465847),HSF2(dist=483958) chr6 122236737 122236738 TT - het . 2 +intergenic GJA1(dist=851276),HSF2(dist=98530) chr6 122622166 122622166 - G het . 2 +intergenic GJA1(dist=917604),HSF2(dist=32202) chr6 122688494 122688494 T A het . 3 +intronic PKIB chr6 123038887 123038888 CT GC het . 4 +intronic FABP7 chr6 123096854 123096854 - AAAC het . 3 +intronic FABP7 chr6 123096882 123096882 C T het . 2 +intergenic SMPDL3A(dist=27517),CLVS2(dist=158735) chr6 123158381 123158381 C T het . 3 +intronic CLVS2 chr6 123326382 123326382 G T het . 2 +intronic TRDN chr6 123545160 123545160 A - het . 13 +intronic TRDN chr6 123576066 123576066 G A het . 30 +intronic TRDN chr6 123580660 123580660 C T het . 17 +splicing TRDN(NM_006073:exon34:c.1805-1G>T) chr6 123581784 123581784 C A het . 20 +intronic TRDN chr6 123581788 123581788 - T het . 20 +intronic TRDN chr6 123581789 123581789 G A het . 19 +intronic TRDN chr6 123588995 123588995 C A het . 14 +intronic TRDN chr6 123590778 123590778 G A het . 2 +exonic TRDN chr6 123658783 123658783 A T het . 17 +intronic TRDN chr6 123706569 123706569 A - het . 2 +intronic TRDN chr6 123758527 123758536 TTTTTTTTTT - het . 8 +ncRNA_intronic TRDN-AS1 chr6 123778709 123778709 T - het . 29 +ncRNA_intronic TRDN-AS1 chr6 123778732 123778732 T C het . 28 +ncRNA_intronic TRDN-AS1 chr6 123783377 123783377 G A het . 3 +exonic TRDN chr6 123833457 123833457 G C het . 27 +intronic NKAIN2 chr6 124318729 124318729 A G het . 3 +intronic NKAIN2 chr6 124349695 124349695 T A het . 2 +intronic NKAIN2 chr6 124587027 124587027 A G het . 1 +intronic NKAIN2 chr6 124700720 124700720 G A het . 2 +intronic NKAIN2 chr6 124702864 124702864 G A het . 2 +intronic NKAIN2 chr6 124911659 124911659 G A het . 2 +ncRNA_exonic RNF217-AS1 chr6 125232767 125232767 A - het . 10 +ncRNA_intronic RNF217-AS1 chr6 125235364 125235364 G A het . 2 +intronic RNF217 chr6 125369362 125369362 C T het . 14 +intronic RNF217 chr6 125386463 125386463 G C het . 2 +intronic TPD52L1 chr6 125556516 125556516 A C het . 3 +intergenic HDDC2(dist=108648),LINC02523(dist=263569) chr6 125731930 125731930 T C het . 2 +intergenic HDDC2(dist=180580),LINC02523(dist=191636) chr6 125803862 125803863 CA TG het . 2 +intergenic HDDC2(dist=304812),LINC02523(dist=67405) chr6 125928094 125928094 C T het . 2 +intronic HEY2 chr6 126073275 126073275 G A het . 3 +exonic NCOA7 chr6 126240522 126240522 C A het . 24 +intronic NCOA7 chr6 126242004 126242005 CG GC het . 8 +intronic HINT3 chr6 126288023 126288023 T C het . 10 +intergenic MIR5695(dist=212058),CENPW(dist=5115) chr6 126655820 126655820 T G het . 3 +intergenic MIR588(dist=96547),RSPO3(dist=537642) chr6 126902406 126902406 C G het . 2 +intronic ECHDC1 chr6 127627762 127627762 G T het . 2 +intronic ECHDC1 chr6 127630963 127630963 A T het . 3 +exonic ECHDC1 chr6 127652045 127652045 C A het . 43 +intergenic ECHDC1(dist=4990),KIAA0408(dist=89807) chr6 127669744 127669744 G A het . 1 +intergenic ECHDC1(dist=91052),KIAA0408(dist=3745) chr6 127755806 127755806 G A het . 2 +intronic THEMIS chr6 128051462 128051466 AGAAA - het . 11 +intronic THEMIS chr6 128051463 128051463 G A het . 12 +exonic THEMIS chr6 128150720 128150720 C T het . 13 +intronic THEMIS chr6 128226775 128226775 T C het . 2 +intronic THEMIS chr6 128226781 128226781 A T het . 2 +intergenic THEMIS(dist=44091),PTPRK(dist=6057) chr6 128283867 128283867 A T het . 2 +intronic PTPRK chr6 128291768 128291768 C T het . 2 +intronic PTPRK chr6 128312114 128312114 - AG het . 5 +exonic PTPRK chr6 128399999 128399999 A G het . 17 +intergenic PTPRK(dist=219252),LAMA2(dist=143215) chr6 129061071 129061071 G T het . 2 +intronic LAMA2 chr6 129380843 129380843 - G het . 25 +intronic LAMA2 chr6 129380844 129380844 A G het . 25 +intronic LAMA2 chr6 129618699 129618699 C A het . 3 +intronic LAMA2 chr6 129619236 129619236 G T het . 4 +intronic LAMA2 chr6 129712937 129712937 - ATCT het . 13 +intronic LAMA2 chr6 129731472 129731472 A - het . 2 +intronic LAMA2 chr6 129731487 129731487 T G het . 2 +intronic LAMA2 chr6 129762310 129762310 G A het . 6 +intronic LAMA2 chr6 129777382 129777382 C T het . 12 +intronic LAMA2 chr6 129796297 129796297 A G het . 5 +intronic LAMA2 chr6 129802302 129802302 G C het . 7 +intronic LAMA2 chr6 129835814 129835814 G A het . 14 +intronic ARHGAP18 chr6 129920299 129920321 AATTTTGGTATTAAAAAAATACT - het . 12 +intronic ARHGAP18 chr6 129955151 129955151 - A het . 8 +intronic ARHGAP18 chr6 129955165 129955165 C A het . 12 +intronic ARHGAP18 chr6 129955171 129955171 A G het . 13 +intergenic ARHGAP18(dist=27219),TMEM244(dist=93800) chr6 130058589 130058589 - T het . 3 +intronic TMEM244 chr6 130154964 130154966 TTT - het . 2 +intronic TMEM244 chr6 130157934 130157934 T C het . 1 +intronic TMEM244 chr6 130168949 130168949 T C het . 3 +intronic L3MBTL3 chr6 130370732 130370733 TG - het . 2 +intronic L3MBTL3 chr6 130376095 130376095 T C het . 3 +intronic SAMD3 chr6 130469126 130469126 T C het . 1 +intronic SAMD3 chr6 130477305 130477305 G A het . 2 +intronic SAMD3 chr6 130535420 130535420 G A het . 4 +exonic TMEM200A chr6 130762578 130762578 C T het . 7 +intergenic TMEM200A(dist=134108),SMLR1(dist=250227) chr6 130898318 130898318 C T het . 1 +intergenic TMEM200A(dist=278175),SMLR1(dist=106159) chr6 131042385 131042386 AA - het . 2 +intronic EPB41L2 chr6 131199491 131199491 - A het . 9 +intronic EPB41L2 chr6 131234008 131234008 A G het . 1 +intergenic EPB41L2(dist=16598),AKAP7(dist=55766) chr6 131401060 131401060 G A het . 1 +intergenic AKAP7(dist=207691),ARG1(dist=81978) chr6 131812366 131812366 T C het . 2 +intergenic AKAP7(dist=207710),ARG1(dist=81959) chr6 131812385 131812385 C A het . 1 +intronic MED23 chr6 131948817 131948817 A - het . 18 +intronic ENPP1 chr6 132141079 132141079 - T het . 11 +intronic ENPP1 chr6 132149300 132149300 C G het . 5 +intronic ENPP1 chr6 132189068 132189068 T - het . 7 +intronic CTGF chr6 132270729 132270729 A - het . 7 +intronic STX7 chr6 132785272 132785272 C A het . 10 +intronic STX7 chr6 132796922 132796922 - CTTTGTTTTCCAG het . 13 +intronic STX7 chr6 132796924 132796924 A - het . 13 +UTR3 TAAR1(NM_138327:c.*80C>A) chr6 132966043 132966043 G T het . 4 +exonic VNN1 chr6 133013644 133013644 C T het . 16 +intronic VNN1 chr6 133032668 133032668 C T het . 3 +exonic VNN2 chr6 133076999 133076999 C T het . 8 +intronic SLC18B1 chr6 133093815 133093815 C T het . 2 +intronic RPS12 chr6 133135953 133135953 T G het . 6 +intergenic RPS12(dist=192425),LINC00326(dist=78091) chr6 133331128 133331128 G A het . 1 +intergenic LINC00326(dist=69676),EYA4(dist=65102) chr6 133497393 133497393 T G het . 3 +intronic EYA4 chr6 133575875 133575875 C A het . 3 +intronic EYA4 chr6 133769378 133769378 C A het . 9 +ncRNA_intronic TARID chr6 134181026 134181026 T G het . 3 +ncRNA_intronic TARID chr6 134181036 134181036 C T het . 3 +intergenic HMGA1P7(dist=46409),SGK1(dist=5156) chr6 134485227 134485228 TC - het . 2 +intronic SGK1 chr6 134498367 134498367 C A het . 2 +intronic SGK1 chr6 134498378 134498378 C - het . 2 +intronic SGK1 chr6 134536272 134536272 - TTTCTT het . 7 +intronic SGK1 chr6 134536309 134536309 G A het . 9 +intronic SGK1 chr6 134582844 134582844 C A het . 11 +ncRNA_intronic LINC01010 chr6 134810317 134810317 T C het . 2 +intergenic LOC101928304(dist=45441),ALDH8A1(dist=331944) chr6 134906584 134906584 - A het . 2 +intergenic LOC101928304(dist=205018),ALDH8A1(dist=172367) chr6 135066161 135066161 C T het . 2 +intergenic LOC101928304(dist=205036),ALDH8A1(dist=172349) chr6 135066179 135066179 - TCTCTC het . 1 +intronic HBS1L chr6 135286439 135286439 A - het . 20 +intronic HBS1L chr6 135309212 135309212 C T het . 2 +intronic HBS1L chr6 135324051 135324051 T C het . 14 +intronic HBS1L chr6 135324053 135324057 TTAAA - het . 14 +intronic HBS1L chr6 135324085 135324085 T C het . 11 +intronic HBS1L chr6 135360300 135360300 C G het . 1 +intergenic HBS1L(dist=1150),MYB(dist=125267) chr6 135377186 135377186 G T het . 2 +intergenic HBS1L(dist=26303),MYB(dist=100114) chr6 135402339 135402339 T C het . 4 +intergenic MYB(dist=18834),MIR548A2(dist=1153) chr6 135559145 135559145 G A het . 2 +UTR3 AHI1(NM_001134831:c.*50A>T,NM_001134830:c.*50A>T,NM_017651:c.*50A>T,NM_001350503:c.*50A>T,NM_001350504:c.*31A>T) chr6 135606733 135606733 T A het . 33 +intronic AHI1 chr6 135632625 135632625 A C het . 2 +intronic AHI1 chr6 135632649 135632649 C T het . 2 +intronic AHI1 chr6 135715740 135715740 T - het . 13 +exonic AHI1 chr6 135752433 135752433 T C het . 8 +intronic AHI1 chr6 135763585 135763585 T C het . 2 +intronic AHI1 chr6 135776694 135776694 C G het . 3 +ncRNA_intronic LINC00271 chr6 135828665 135828665 A T het . 3 +ncRNA_intronic LINC00271 chr6 135943857 135943857 C T het . 2 +intronic PDE7B chr6 136359280 136359280 - G het . 24 +ncRNA_intronic LOC644135 chr6 136367371 136367371 A - het . 2 +intronic PDE7B chr6 136468301 136468301 - A het . 2 +intronic PDE7B chr6 136468319 136468319 C A het . 2 +intronic PDE7B chr6 136508039 136508039 T A het . 10 +UTR3 BCLAF1(NM_001363659:c.*156G>T,NM_001301038:c.*156G>T,NM_014739:c.*156G>T,NM_001077441:c.*156G>T,NM_001077440:c.*156G>T) chr6 136582092 136582092 C A het . 4 +UTR3 BCLAF1(NM_001363659:c.*135T>G,NM_001301038:c.*135T>G,NM_014739:c.*135T>G,NM_001077441:c.*135T>G,NM_001077440:c.*135T>G) chr6 136582113 136582113 A C het . 2 +UTR3 BCLAF1(NM_001363659:c.*53_*54insTT,NM_001301038:c.*53_*54insTT,NM_014739:c.*53_*54insTT,NM_001077441:c.*53_*54insTT,NM_001077440:c.*53_*54insTT) chr6 136582194 136582194 - AA het . 9 +UTR3 BCLAF1(NM_001363659:c.*45A>G,NM_001301038:c.*45A>G,NM_014739:c.*45A>G,NM_001077441:c.*45A>G,NM_001077440:c.*45A>G) chr6 136582203 136582203 T C het . 11 +exonic BCLAF1 chr6 136593183 136593183 G C het . 42 +exonic BCLAF1 chr6 136594292 136594292 T C het . 27 +intronic BCLAF1 chr6 136595439 136595439 - A het . 2 +exonic BCLAF1 chr6 136600949 136600949 G A het . 23 +UTR5 BCLAF1(NM_001363659:c.-9868G>T,NM_001301038:c.-9868G>T,NM_014739:c.-9868G>T,NM_001077441:c.-9868G>T,NM_001077440:c.-9868G>T) chr6 136610872 136610872 C A het . 5 +exonic MAP7 chr6 136681879 136681879 T C het . 36 +UTR3 MAP3K5(NM_005923:c.*144delA) chr6 136878752 136878752 T - het . 4 +intronic MAP3K5 chr6 136914853 136914855 AAA - het . 6 +ncRNA_intronic LOC101928461 chr6 136963890 136963890 C T het . 7 +intronic PEX7 chr6 137193320 137193320 - T het . 26 +intergenic SLC35D3(dist=29048),NHEG1(dist=27450) chr6 137275846 137275846 G T het . 2 +exonic IL20RA chr6 137323328 137323328 C A het . 28 +intergenic IL20RA(dist=1801),IL22RA2(dist=96839) chr6 137368118 137368118 G A het . 2 +intronic IFNGR1 chr6 137524871 137524872 AA - het . 15 +intronic IFNGR1 chr6 137536602 137536602 C A het . 5 +UTR5 IFNGR1(NM_000416:c.-56T>C) chr6 137540520 137540520 A G het . 7 +intergenic IFNGR1(dist=202576),OLIG3(dist=70193) chr6 137743143 137743143 G T het . 2 +intergenic OLIG3(dist=94534),LOC102723649(dist=76718) chr6 137910065 137910065 C T het . 2 +intergenic LOC102723649(dist=4779),LINC02539(dist=50837) chr6 138000470 138000470 A G het . 1 +ncRNA_intronic LOC100130476 chr6 138177408 138177408 C T het . 3 +exonic PERP chr6 138417543 138417543 T A het . 13 +intergenic PERP(dist=48371),ARFGEF3(dist=6022) chr6 138477031 138477031 A C het . 2 +intronic ARFGEF3 chr6 138644772 138644772 C - het . 10 +intronic ARFGEF3 chr6 138644783 138644783 C A het . 10 +intronic NHSL1 chr6 138820297 138820297 G C het . 8 +intronic NHSL1 chr6 138820324 138820324 A G het . 15 +intergenic FLJ46906(dist=2725),GVQW2(dist=25198) chr6 139021150 139021150 - TT het . 6 +intronic CCDC28A chr6 139109548 139109548 A T het . 8 +intronic ECT2L chr6 139167579 139167579 T C het . 3 +intronic ECT2L chr6 139183879 139183879 G A het . 10 +intronic ECT2L chr6 139185697 139185697 T C het . 2 +intronic ECT2L chr6 139209759 139209759 T C het . 2 +intronic REPS1 chr6 139255989 139255989 C T het . 2 +intergenic ABRACL(dist=3405),HECA(dist=88405) chr6 139367844 139367844 T C het . 3 +intergenic ABRACL(dist=3442),HECA(dist=88368) chr6 139367881 139367881 G T het . 3 +intergenic ABRACL(dist=39913),HECA(dist=51897) chr6 139404352 139404352 G C het . 2 +intergenic ABRACL(dist=58244),HECA(dist=33566) chr6 139422683 139422683 A T het . 3 +intronic HECA chr6 139487394 139487394 T C het . 2 +intronic TXLNB chr6 139569237 139569237 C T het . 2 +exonic CITED2 chr6 139694342 139694342 C A het . 35 +exonic CITED2 chr6 139694615 139694615 C A het . 4 +intergenic LINC01625(dist=123134),FILNC1(dist=173343) chr6 139918867 139918867 T C het . 2 +intergenic LINC01625(dist=141993),FILNC1(dist=154484) chr6 139937726 139937726 C T het . 2 +intergenic LINC01625(dist=183141),FILNC1(dist=113336) chr6 139978874 139978874 C T het . 2 +intergenic LINC01625(dist=201448),FILNC1(dist=95029) chr6 139997181 139997181 G A het . 3 +ncRNA_intronic FILNC1 chr6 140112946 140112946 T A het . 2 +ncRNA_intronic FILNC1 chr6 140167253 140167253 T - het . 2 +intergenic LOC100507477(dist=41852),MIR3668(dist=69679) chr6 140456710 140456710 T G het . 2 +intergenic MIR3668(dist=301688),MIR4465(dist=176800) chr6 140828151 140828151 T G het . 1 +intergenic MIR4465(dist=129153),NMBR(dist=1261448) chr6 141134173 141134173 G A het . 2 +intergenic MIR4465(dist=140020),NMBR(dist=1250581) chr6 141145040 141145040 T C het . 1 +intergenic MIR4465(dist=406843),NMBR(dist=983758) chr6 141411863 141411863 - T het . 2 +intergenic MIR4465(dist=514973),NMBR(dist=875628) chr6 141519993 141519993 C A het . 3 +intergenic MIR4465(dist=760925),NMBR(dist=629676) chr6 141765945 141765945 G A het . 3 +intergenic MIR4465(dist=762910),NMBR(dist=627691) chr6 141767930 141767930 - A het . 2 +intronic VTA1 chr6 142472155 142472155 A G het . 3 +intronic VTA1 chr6 142472163 142472190 TGGGGGATGCAGGGAGTCACCTGGAGTT - het . 3 +intronic VTA1 chr6 142487538 142487538 T A het . 11 +intronic ADGRG6 chr6 142691951 142691951 T - het . 8 +exonic ADGRG6 chr6 142741131 142741131 T G het . 27 +intergenic HIVEP2(dist=3651),LINC01277(dist=17570) chr6 143269989 143269989 T G het . 2 +intronic AIG1 chr6 143382255 143382256 GT - het . 6 +intronic PEX3 chr6 143800475 143800475 C A het . 10 +exonic FUCA2 chr6 143828527 143828527 C A het . 15 +intergenic FUCA2(dist=5224),PHACTR2-AS1(dist=37008) chr6 143838244 143838244 G A het . 3 +intergenic FUCA2(dist=5230),PHACTR2-AS1(dist=36999) chr6 143838250 143838253 AGAG - het . 3 +intronic PHACTR2 chr6 144093194 144093194 C A het . 3 +intronic LTV1 chr6 144165810 144165810 T - het . 4 +intronic ZC2HC1B chr6 144258650 144258650 C A het . 2 +intronic ZC2HC1B chr6 144258670 144258670 - A het . 6 +intergenic PLAGL1(dist=4948),SF3B5(dist=25334) chr6 144390684 144390684 - A het . 3 +intergenic SF3B5(dist=50970),STX11(dist=3930) chr6 144467724 144467724 C T het . 1 +intronic UTRN chr6 144665301 144665301 C A het . 6 +intronic UTRN chr6 144743129 144743129 C A het . 14 +intronic UTRN chr6 144843089 144843089 A - het . 14 +intronic UTRN chr6 144843091 144843091 A - het . 13 +intronic UTRN chr6 144843091 144843091 A T het . 9 +intronic UTRN chr6 144872247 144872249 ATC - het . 15 +intronic UTRN chr6 144875681 144875681 T G het . 3 +intergenic UTRN(dist=299651),EPM2A(dist=472619) chr6 145473821 145473821 A - het . 2 +intergenic UTRN(dist=636679),EPM2A(dist=135591) chr6 145810849 145810849 C A het . 14 +ncRNA_intronic LOC100507557 chr6 146112942 146112942 C T het . 3 +ncRNA_intronic LOC100507557 chr6 146121608 146121608 G A het . 5 +intronic SHPRH chr6 146245639 146245639 C T het . 3 +exonic GRM1 chr6 146720571 146720571 T A het . 40 +exonic GRM1 chr6 146720638 146720638 C A het . 30 +intronic GRM1 chr6 146720888 146720889 TC - het . 8 +intronic ADGB chr6 146965791 146965791 C A het . 14 +intronic ADGB chr6 147037329 147037329 C G het . 2 +intronic ADGB chr6 147054871 147054871 C A het . 4 +exonic ADGB chr6 147105842 147105842 T A het . 22 +ncRNA_intronic STXBP5-AS1 chr6 147185577 147185577 G A het . 2 +ncRNA_intronic STXBP5-AS1 chr6 147197055 147197055 A G het . 1 +ncRNA_intronic STXBP5-AS1 chr6 147420986 147420986 C A het . 1 +ncRNA_intronic STXBP5-AS1 chr6 147524962 147524962 T G het . 1 +intronic STXBP5 chr6 147680060 147680060 C A het . 6 +intronic STXBP5 chr6 147688765 147688765 T C het . 2 +UTR3 STXBP5(NM_001127715:c.*21C>A,NM_139244:c.*21C>A) chr6 147705912 147705912 C A het . 16 +intergenic STXBP5(dist=39774),SAMD5(dist=78442) chr6 147751386 147751386 T C het . 1 +intergenic SAMD5(dist=160054),SASH1(dist=542201) chr6 148051211 148051211 A - het . 7 +intergenic SAMD5(dist=392049),SASH1(dist=310206) chr6 148283206 148283206 - AA het . 3 +intronic SASH1 chr6 148617263 148617263 - TTG het . 2 +exonic SASH1 chr6 148792581 148792581 G T het . 12 +intronic SASH1 chr6 148853867 148853867 T C het . 4 +intergenic SASH1(dist=6250),UST(dist=188835) chr6 148879436 148879436 C T het . 2 +intergenic SASH1(dist=99724),UST(dist=95361) chr6 148972910 148972910 G A het . 2 +ncRNA_intronic UST-AS1 chr6 149277546 149277546 T A het . 3 +intronic UST chr6 149340390 149340390 G C het . 14 +UTR3 UST(NM_005715:c.*1576C>T) chr6 149396828 149396828 C T het . 4 +intergenic UST(dist=47523),TAB2(dist=93411) chr6 149445649 149445649 G A het . 3 +intergenic UST(dist=47528),TAB2(dist=93406) chr6 149445654 149445654 C T het . 4 +intronic TAB2 chr6 149633491 149633491 T A het . 2 +intronic TAB2 chr6 149674112 149674112 C T het . 2 +intronic KATNA1 chr6 149953835 149953835 A G het . 3 +ncRNA_exonic LOC645967 chr6 150039091 150039091 G A het . 2 +intronic NUP43 chr6 150048367 150048367 C A het . 22 +ncRNA_intronic RAET1E-AS1 chr6 150209850 150209850 A - het . 13 +ncRNA_exonic RAET1K chr6 150326267 150326267 A G het . 3 +intronic PPP1R14C chr6 150567518 150567518 G A het . 2 +intergenic IYD(dist=9836),PLEKHG1(dist=185400) chr6 150735601 150735601 C T het . 2 +intergenic IYD(dist=9842),PLEKHG1(dist=185394) chr6 150735607 150735607 T C het . 2 +intronic PLEKHG1 chr6 151107814 151107814 T C het . 2 +intronic PLEKHG1 chr6 151116858 151116858 A - het . 9 +intronic PLEKHG1 chr6 151149166 151149167 GG AA het . 3 +intronic MTHFD1L chr6 151219963 151219963 - ATT het . 10 +intronic MTHFD1L chr6 151295845 151295845 G A het . 7 +intronic MTHFD1L chr6 151295861 151295864 TTTT - het . 6 +intronic MTHFD1L chr6 151295872 151295872 T C het . 7 +intronic MTHFD1L chr6 151362896 151362898 TTG - het . 16 +intronic MTHFD1L chr6 151400649 151400649 G A het . 2 +intronic MTHFD1L chr6 151420633 151420633 G T het . 14 +intronic MTHFD1L chr6 151422302 151422302 - A het . 2 +intronic AKAP12 chr6 151669460 151669463 AAAA - het . 11 +exonic AKAP12 chr6 151674116 151674116 - GAG het . 32 +exonic ZBTB2 chr6 151686997 151686997 C G het . 23 +intronic RMND1 chr6 151738628 151738628 T - het . 11 +intronic CCDC170 chr6 151857713 151857713 C G het . 5 +intronic CCDC170 chr6 151859147 151859148 TT - het . 13 +intronic ESR1 chr6 152052215 152052215 A G het . 1 +intronic ESR1 chr6 152285687 152285687 G T het . 2 +intronic ESR1 chr6 152285778 152285778 T C het . 2 +intronic ESR1 chr6 152285782 152285782 T - het . 2 +intronic SYNE1 chr6 152466811 152466811 T C het . 14 +ncRNA_intronic MIR3163 chr6 152534946 152534947 TT AA het . 30 +ncRNA_intronic MIR3163 chr6 152539573 152539574 AA - het . 23 +intronic SYNE1 chr6 152557633 152557633 - T het . 4 +intronic SYNE1 chr6 152558111 152558111 - A het . 24 +intronic SYNE1 chr6 152605463 152605463 T A het . 7 +exonic SYNE1 chr6 152623163 152623163 C A het . 48 +intronic SYNE1 chr6 152629773 152629773 A - het . 2 +intronic SYNE1 chr6 152629815 152629815 C T het . 12 +intronic SYNE1 chr6 152630946 152630946 C T het . 12 +intronic SYNE1 chr6 152631257 152631258 AA - het . 13 +intronic SYNE1 chr6 152649098 152649100 AAG - het . 3 +exonic SYNE1 chr6 152652970 152652970 C A het . 32 +intronic SYNE1 chr6 152673519 152673519 A C het . 18 +intronic SYNE1 chr6 152673544 152673544 T - het . 10 +exonic SYNE1 chr6 152686071 152686071 A G het . 24 +exonic SYNE1 chr6 152686090 152686090 G T het . 33 +exonic SYNE1 chr6 152831499 152831499 T C het . 38 +intergenic SYNE1(dist=28167),MYCT1(dist=32329) chr6 152986701 152986701 T C het . 1 +intergenic SYNE1(dist=28183),MYCT1(dist=32313) chr6 152986717 152986717 G A het . 2 +intergenic MYCT1(dist=3273),VIP(dist=22944) chr6 153048988 153048988 G A het . 2 +intergenic MYCT1(dist=3867),VIP(dist=22350) chr6 153049582 153049582 C G het . 2 +intergenic MYCT1(dist=3871),VIP(dist=22346) chr6 153049586 153049586 T C het . 1 +intronic VIP chr6 153075238 153075238 G A het . 6 +intronic FBXO5 chr6 153303950 153303950 C A het . 5 +intronic RGS17 chr6 153402767 153402767 C - het . 2 +intergenic RGS17(dist=42634),OPRM1(dist=836608) chr6 153495023 153495023 G A het . 2 +intergenic RGS17(dist=104488),OPRM1(dist=774754) chr6 153556877 153556877 C T het . 2 +intergenic RGS17(dist=150984),OPRM1(dist=728258) chr6 153603373 153603373 T C het . 5 +intergenic RGS17(dist=298450),OPRM1(dist=580792) chr6 153750839 153750839 A G het . 1 +intergenic RGS17(dist=298455),OPRM1(dist=580787) chr6 153750844 153750844 T C het . 1 +intergenic RGS17(dist=298460),OPRM1(dist=580782) chr6 153750849 153750849 T G het . 1 +intergenic RGS17(dist=298466),OPRM1(dist=580776) chr6 153750855 153750855 C A het . 1 +intergenic RGS17(dist=414646),OPRM1(dist=464596) chr6 153867035 153867035 A C het . 2 +intergenic RGS17(dist=414652),OPRM1(dist=464590) chr6 153867041 153867041 G A het . 2 +intergenic RGS17(dist=763557),OPRM1(dist=115685) chr6 154215946 154215946 G A het . 3 +intergenic RGS17(dist=763570),OPRM1(dist=115672) chr6 154215959 154215959 G A het . 3 +intergenic RGS17(dist=814611),OPRM1(dist=64631) chr6 154267000 154267000 C T het . 2 +intronic OPRM1 chr6 154434458 154434458 T C het . 3 +intronic OPRM1 chr6 154439789 154439789 C A het . 22 +intergenic IPCEF1(dist=41255),CNKSR3(dist=7278) chr6 154719155 154719155 T C het . 2 +intergenic IPCEF1(dist=41263),CNKSR3(dist=7270) chr6 154719163 154719163 G T het . 1 +UTR3 CNKSR3(NM_173515:c.*80A>G) chr6 154727408 154727408 T C het . 2 +intronic CNKSR3 chr6 154768635 154768635 T C het . 1 +intronic CNKSR3 chr6 154771449 154771449 T C het . 3 +intergenic CNKSR3(dist=204855),SCAF8(dist=17864) chr6 155036648 155036648 G A het . 1 +intronic SCAF8 chr6 155126696 155126696 T - het . 9 +intergenic MIR1273C(dist=65066),TIAM2(dist=171787) chr6 155239636 155239636 G C het . 3 +intergenic MIR1273C(dist=192633),TIAM2(dist=44220) chr6 155367203 155367203 A G het . 1 +intronic TIAM2 chr6 155485914 155485914 G C het . 2 +exonic TFB1M chr6 155606325 155606325 C T het . 27 +intronic NOX3 chr6 155761344 155761344 T - het . 5 +intergenic LOC105378068(dist=244904),MIR1202(dist=175874) chr6 156092056 156092057 TG CA het . 1 +intergenic MIR1202(dist=217277),SNORD28B(dist=214594) chr6 156485290 156485290 A G het . 2 +intergenic SNORD28B(dist=101919),ARID1B(dist=297113) chr6 156801876 156801876 G A het . 2 +intronic ARID1B chr6 157115887 157115887 - T het . 3 +intronic ARID1B chr6 157218325 157218325 - CTG het . 6 +intronic ARID1B chr6 157298030 157298030 G T het . 16 +intronic ARID1B chr6 157510578 157510578 T A het . 3 +intronic TMEM242 chr6 157714387 157714387 - AAAC het . 5 +UTR5 TMEM242(NM_018452:c.-57G>C) chr6 157744588 157744588 C G het . 6 +intronic ZDHHC14 chr6 157889457 157889457 G C het . 2 +intronic ZDHHC14 chr6 157963550 157963550 T C het . 2 +intergenic ZDHHC14(dist=137011),SNX9(dist=12215) chr6 158231988 158231988 G A het . 2 +intronic SNX9 chr6 158294105 158294107 TTT - het . 8 +intronic SNX9 chr6 158357201 158357201 T G het . 3 +intronic SNX9 chr6 158361899 158361899 C T het . 7 +exonic SYNJ2 chr6 158492660 158492660 C T het . 7 +exonic SYNJ2 chr6 158507981 158507981 G A het . 6 +exonic SYNJ2 chr6 158509750 158509750 A G het . 12 +intergenic GTF2H5(dist=39030),TULP4(dist=74286) chr6 158659406 158659406 G C het . 4 +intronic TULP4 chr6 158766146 158766146 C T het . 7 +intronic TULP4 chr6 158778159 158778159 A G het . 2 +intronic TULP4 chr6 158810477 158810477 C A het . 3 +intronic TMEM181 chr6 158984733 158984733 A G het . 2 +intronic TMEM181 chr6 159044795 159044795 T - het . 6 +intronic SYTL3 chr6 159089258 159089258 - TTTA het . 2 +intronic EZR chr6 159190800 159190800 C G het . 6 +intronic EZR chr6 159204426 159204426 T A het . 4 +intronic EZR chr6 159210663 159210666 TTTC - het . 9 +intronic C6orf99 chr6 159316430 159316430 C T het . 6 +exonic TAGAP chr6 159457407 159457407 C A het . 29 +intergenic TAGAP(dist=49022),LOC101929122(dist=71725) chr6 159515206 159515206 C G het . 2 +exonic FNDC1 chr6 159654551 159654551 C G het . 3 +exonic FNDC1 chr6 159655079 159655081 GAC - het . 17 +exonic FNDC1 chr6 159655084 159655084 C G het . 17 +exonic FNDC1 chr6 159655102 159655102 A G het . 17 +exonic FNDC1 chr6 159655282 159655282 A C het . 9 +exonic FNDC1 chr6 159655288 159655288 A C het . 8 +exonic FNDC1 chr6 159655292 159655292 A C het . 9 +exonic FNDC1 chr6 159655326 159655326 T C het . 16 +intronic FNDC1 chr6 159686177 159686177 G A het . 3 +UTR3 FNDC1(NM_032532:c.*85G>A) chr6 159692559 159692559 G A het . 5 +UTR3 FNDC1(NM_032532:c.*122T>C) chr6 159692596 159692596 T C het . 2 +intergenic LINC02529(dist=33679),SOD2(dist=248944) chr6 159851152 159851152 G T het . 1 +intergenic LINC02529(dist=127883),SOD2(dist=154740) chr6 159945356 159945356 C A het . 1 +intergenic LINC02529(dist=129491),SOD2(dist=153132) chr6 159946964 159946964 T - het . 13 +intronic SOD2 chr6 160109051 160109051 A T het . 3 +intronic SOD2 chr6 160133957 160133957 G A het . 2 +intronic SOD2,WTAP chr6 160148410 160148410 G A het . 4 +intronic ACAT2 chr6 160197802 160197802 C T het . 1 +intronic TCP1 chr6 160204127 160204127 T C het . 3 +intronic TCP1 chr6 160205340 160205340 T - het . 3 +intronic TCP1 chr6 160208625 160208629 TTCTT - het . 4 +UTR5 MRPL18(NM_014161:c.-66T>G,NM_001318817:c.-66T>G) chr6 160211554 160211554 T G het . 22 +intronic MRPL18 chr6 160211697 160211697 C T het . 8 +intronic MRPL18 chr6 160211700 160211700 C G het . 8 +intronic PNLDC1 chr6 160237663 160237664 TT - het . 12 +intergenic PNLDC1(dist=1895),MAS1(dist=84343) chr6 160243631 160243631 T C het . 3 +intergenic PNLDC1(dist=38683),MAS1(dist=47555) chr6 160280419 160280419 T - het . 2 +intergenic MAS1(dist=36266),IGF2R(dist=24758) chr6 160365373 160365373 A G het . 3 +intronic IGF2R chr6 160465456 160465456 C T het . 12 +intronic IGF2R chr6 160479789 160479789 A G het . 4 +exonic SLC22A1 chr6 160551204 160551204 G C het . 14 +intronic SLC22A1 chr6 160560520 160560520 C T het . 4 +intronic SLC22A1 chr6 160560933 160560933 C T het . 1 +intronic SLC22A1 chr6 160570013 160570013 C T het . 2 +intronic SLC22A2 chr6 160640055 160640055 G A het . 16 +intronic SLC22A2 chr6 160640059 160640059 C T het . 15 +intronic SLC22A2 chr6 160640125 160640125 T C het . 2 +intronic SLC22A2 chr6 160640128 160640128 C G het . 2 +intronic SLC22A2 chr6 160640215 160640215 - AGCAACAACAGT het . 7 +intergenic SLC22A2(dist=46461),SLC22A3(dist=42981) chr6 160726424 160726424 G - het . 2 +intergenic SLC22A2(dist=46464),SLC22A3(dist=42976) chr6 160726427 160726429 AGG - het . 2 +intronic SLC22A3 chr6 160830048 160830048 T - het . 3 +intronic SLC22A3 chr6 160868701 160868701 G A het . 12 +intergenic SLC22A3(dist=6437),LPAL2(dist=7539) chr6 160880048 160880048 C A het . 16 +ncRNA_intronic LPAL2 chr6 160903911 160903911 G A het . 6 +exonic LPA chr6 160961157 160961157 C T het . 29 +intronic LPA chr6 160962011 160962011 C A het . 9 +intronic LPA chr6 160966410 160966410 T - het . 12 +exonic LPA chr6 161006172 161006172 T G het . 14 +exonic LPA chr6 161007538 161007538 G C het . 24 +exonic LPA chr6 161007619 161007619 G T het . 12 +intronic PLG chr6 161127628 161127628 A G het . 6 +intergenic PLG(dist=3354),MAP3K4(dist=234320) chr6 161178439 161178439 T C het . 13 +intergenic PLG(dist=101880),MAP3K4(dist=135794) chr6 161276965 161276965 C T het . 2 +intergenic PLG(dist=148203),MAP3K4(dist=89471) chr6 161323288 161323288 T G het . 4 +intronic MAP3K4 chr6 161415759 161415759 G A het . 1 +intronic MAP3K4 chr6 161426365 161426365 T G het . 1 +intronic MAP3K4 chr6 161426383 161426383 A G het . 2 +intronic MAP3K4 chr6 161445060 161445060 G A het . 2 +intronic MAP3K4 chr6 161507391 161507391 G A het . 12 +exonic MAP3K4 chr6 161519351 161519353 CTG - het . 16 +intronic MAP3K4 chr6 161532856 161532856 T - het . 4 +intronic AGPAT4 chr6 161557775 161557775 C G het . 3 +intronic AGPAT4 chr6 161586754 161586754 - A het . 19 +intronic AGPAT4 chr6 161622016 161622016 A C het . 1 +intronic AGPAT4 chr6 161622023 161622023 C T het . 2 +ncRNA_intronic LOC105378098 chr6 161898528 161898528 A G het . 1 +intronic PRKN chr6 161979428 161979428 G T het . 3 +intronic PRKN chr6 161979439 161979439 A T het . 3 +intronic PRKN chr6 162062234 162062234 A G het . 2 +intronic PRKN chr6 162062258 162062258 G A het . 2 +intronic PRKN chr6 162093803 162093803 A G het . 5 +intronic PRKN chr6 162124035 162124035 C A het . 2 +intronic PRKN chr6 162592548 162592548 G A het . 1 +intronic PRKN chr6 162700478 162700478 A G het . 4 +ncRNA_intronic PACRG-AS1 chr6 163744361 163744361 A G het . 1 +intronic QKI chr6 163899795 163899795 T - het . 9 +intergenic LOC102724152(dist=692429),MEAT6(dist=421921) chr6 164784945 164784945 G A het . 4 +intergenic LOC102724152(dist=912244),MEAT6(dist=202106) chr6 165004760 165004760 T C het . 1 +intergenic LOC102724152(dist=1030890),MEAT6(dist=83460) chr6 165123406 165123406 T C het . 1 +intergenic MEAT6(dist=50918),C6orf118(dist=406683) chr6 165286470 165286470 G T het . 1 +intergenic MEAT6(dist=168495),C6orf118(dist=289106) chr6 165404047 165404047 C T het . 1 +intergenic MEAT6(dist=214477),C6orf118(dist=243124) chr6 165450029 165450029 C A het . 1 +upstream C6orf118(dist=19) chr6 165723130 165723130 A T het . 12 +intronic PDE10A chr6 165826899 165826899 - AA het . 2 +intronic PDE10A chr6 166055506 166055507 GT - het . 2 +intronic PDE10A chr6 166064250 166064250 T - het . 2 +intergenic PDE10A(dist=77463),LINC00473(dist=184485) chr6 166153051 166153051 G C het . 1 +intergenic PDE10A(dist=77473),LINC00473(dist=184475) chr6 166153061 166153061 T A het . 2 +intergenic PDE10A(dist=205234),LINC00473(dist=56714) chr6 166280822 166280822 A T het . 2 +intergenic PDE10A(dist=206401),LINC00473(dist=55547) chr6 166281989 166281989 G A het . 2 +intergenic PDE10A(dist=232502),LINC00473(dist=29445) chr6 166308090 166308091 AT TC het . 7 +ncRNA_exonic LINC00473,LINC00602 chr6 166401465 166401466 GT - het . 2 +ncRNA_exonic LOC101929297 chr6 166656865 166656865 A G het . 2 +exonic PRR18 chr6 166720806 166720806 G C het . 5 +intronic SFT2D1 chr6 166736178 166736181 AAAA - het . 5 +intronic SFT2D1 chr6 166736236 166736236 A - het . 4 +intronic SFT2D1 chr6 166741969 166741969 T - het . 6 +ncRNA_exonic LOC100289495 chr6 166763633 166763633 G A het . 6 +intronic RPS6KA2 chr6 166862136 166862136 G A het . 2 +intronic RPS6KA2 chr6 167268832 167268832 - GAA het . 7 +intronic RPS6KA2 chr6 167268853 167268853 - GAA het . 6 +intronic RPS6KA2 chr6 167268918 167268920 GAA - het . 2 +UTR5 RPS6KA2(NM_001006932:c.-237A>G,NM_001318937:c.-263A>G,NM_001318936:c.-237A>G) chr6 167275895 167275895 T C het . 1 +intronic RNASET2 chr6 167361836 167361836 A - het . 18 +intergenic RNASET2(dist=25785),MIR3939(dist=15433) chr6 167395862 167395862 A G het . 1 +UTR3 FGFR1OP(NM_007045:c.*54_*55delTT,NM_194429:c.*54_*55delTT) chr6 167453520 167453521 TT - het . 24 +intergenic FGFR1OP(dist=46732),CCR6(dist=22657) chr6 167502638 167502638 A C het . 2 +exonic TTLL2 chr6 167754962 167754962 C A het . 22 +intergenic LOC105378127(dist=5759),LINC02538(dist=176750) chr6 167890772 167890772 - T het . 3 +ncRNA_intronic LINC01558 chr6 168191894 168191894 C T het . 2 +intergenic LOC441179(dist=10830),AFDN-DT(dist=14812) chr6 168209758 168209758 C A het . 1 +intronic AFDN chr6 168269652 168269652 T C het . 3 +intronic AFDN chr6 168280925 168280925 A G het . 2 +intronic AFDN chr6 168298875 168298875 C T het . 5 +intronic AFDN chr6 168348505 168348505 T - het . 6 +intronic FRMD1 chr6 168462765 168462765 C T het . 9 +intronic FRMD1 chr6 168476571 168476571 C T het . 2 +exonic FRMD1 chr6 168479568 168479568 G A het . 5 +exonic FRMD1 chr6 168479604 168479604 G A het . 9 +intergenic FRMD1(dist=14172),LOC105378137(dist=131950) chr6 168494011 168494011 C T het . 1 +intergenic FRMD1(dist=94555),LOC105378137(dist=51567) chr6 168574394 168574394 T C het . 1 +intergenic FRMD1(dist=108711),LOC105378137(dist=37411) chr6 168588550 168588550 C A het . 2 +intronic SMOC2 chr6 168843577 168843577 G A het . 2 +intronic SMOC2 chr6 168928519 168928519 C T het . 4 +intronic SMOC2 chr6 169024008 169024009 AA - het . 1 +intergenic SMOC2(dist=29369),LOC105378146(dist=229793) chr6 169098043 169098043 T - het . 4 +intergenic SMOC2(dist=199517),LOC105378146(dist=59645) chr6 169268191 169268191 A G het . 1 +intergenic LOC102724357(dist=61356),LINC01615(dist=27312) chr6 169530875 169530875 T G het . 5 +ncRNA_intronic LOC101929523 chr6 169617935 169617936 AA - het . 17 +ncRNA_intronic LOC101929523 chr6 169619933 169619933 - TTCCTTCC het . 17 +intronic THBS2 chr6 169646550 169646550 T C het . 4 +intergenic THBS2(dist=160508),WDR27(dist=42586) chr6 169814717 169814717 C T het . 2 +intergenic THBS2(dist=168641),WDR27(dist=34453) chr6 169822850 169822850 - AG het . 1 +UTR5 TCTE3(NM_174910:c.-11A>G) chr6 170151565 170151565 T C het . 16 +intergenic LINC00574(dist=268493),LOC102724511(dist=4404) chr6 170471462 170471462 A G het . 1 +intergenic LOC102724511(dist=64811),LOC154449(dist=20360) chr6 170543062 170543062 T C het . 2 +exonic FAM120B chr6 170627651 170627651 G A het . 8 +intergenic FAM120B(dist=23158),PSMB1(dist=104887) chr6 170739317 170739317 C T het . 2 +exonic TBP chr6 170871013 170871013 - CAG het . 26 +intergenic PDCD2(dist=18723),NONE(dist=NONE) chr6 170912503 170912503 T C het . 2 +intergenic NONE(dist=NONE),LOC102723672(dist=108956) chr7 35489 35489 G A het . 30 +intergenic NONE(dist=NONE),LOC102723672(dist=46222) chr7 98223 98223 A C het . 2 +intronic FAM20C chr7 222809 222809 A G het . 2 +intergenic FAM20C(dist=32348),LOC442497(dist=86303) chr7 333088 333088 A G het . 2 +intergenic FAM20C(dist=108207),LOC442497(dist=10444) chr7 408947 408947 T C het . 2 +intergenic LOC442497(dist=2721),PDGFA(dist=111331) chr7 425566 425566 G A het . 2 +intergenic LOC442497(dist=4232),PDGFA(dist=109819) chr7 427077 427078 CA GT het . 2 +intergenic LOC442497(dist=79315),PDGFA(dist=34737) chr7 502160 502160 A C het . 1 +intergenic LOC442497(dist=90864),PDGFA(dist=23188) chr7 513709 513709 C A het . 1 +intergenic LOC442497(dist=94138),PDGFA(dist=19914) chr7 516983 516983 G A het . 5 +intronic PRKAR1B chr7 618855 618855 T C het . 13 +intronic PRKAR1B chr7 621002 621002 A G het . 2 +intronic PRKAR1B chr7 655463 655463 A - het . 2 +intronic DNAAF5 chr7 775147 775147 G C het . 2 +intronic DNAAF5 chr7 780859 780859 T G het . 1 +intronic DNAAF5 chr7 783316 783316 T C het . 3 +intronic DNAAF5 chr7 806862 806862 C T het . 1 +intronic DNAAF5 chr7 811592 811592 T - het . 2 +intronic DNAAF5 chr7 813618 813618 T C het . 9 +intronic DNAAF5 chr7 813650 813650 G A het . 16 +intronic DNAAF5 chr7 813867 813867 C G het . 4 +intronic DNAAF5 chr7 817455 817455 G A het . 1 +intronic DNAAF5 chr7 819477 819477 T C het . 1 +intergenic DNAAF5(dist=2933),SUN1(dist=26145) chr7 829049 829049 T A het . 18 +intronic SUN1 chr7 882183 882183 C A het . 1 +intronic SUN1 chr7 882830 882830 T - het . 27 +exonic SUN1 chr7 882993 882993 C A het . 31 +exonic SUN1 chr7 909148 909148 G A het . 6 +intronic GET4 chr7 916816 916816 C T het . 2 +intronic GET4 chr7 926827 926827 T C het . 7 +intronic ADAP1 chr7 940267 940268 TG CA het . 3 +intronic ADAP1 chr7 940273 940273 C A het . 2 +intronic ADAP1 chr7 940298 940298 C G het . 2 +intronic ADAP1 chr7 944673 944673 A C het . 9 +intronic ADAP1 chr7 944683 944683 C T het . 14 +intronic ADAP1 chr7 951785 951785 G T het . 2 +intronic ADAP1 chr7 960142 960142 T C het . 2 +intronic CYP2W1 chr7 1026074 1026074 A G het . 2 +intergenic CYP2W1(dist=4523),C7orf50(dist=2823) chr7 1033799 1033799 G T het . 3 +intronic C7orf50 chr7 1076527 1076527 C A het . 2 +intronic C7orf50 chr7 1076550 1076550 G C het . 3 +intronic C7orf50 chr7 1148702 1148702 T C het . 2 +intronic ZFAND2A chr7 1197632 1197632 A C het . 4 +intergenic LOC101927021(dist=5924),UNCX(dist=60500) chr7 1211518 1211518 C T het . 4 +intergenic LOC101927021(dist=16737),UNCX(dist=49687) chr7 1222331 1222331 C A het . 10 +intergenic LOC101927021(dist=22932),UNCX(dist=43492) chr7 1228526 1228526 G A het . 10 +intergenic LOC101927021(dist=48401),UNCX(dist=18023) chr7 1253995 1253995 T C het . 2 +intergenic LOC101927021(dist=55792),UNCX(dist=10632) chr7 1261386 1261386 A T het . 1 +intergenic LOC101927021(dist=63999),UNCX(dist=2425) chr7 1269593 1269593 C - het . 3 +intergenic LOC101927021(dist=64044),UNCX(dist=2380) chr7 1269638 1269638 T G het . 3 +intronic UNCX chr7 1273475 1273475 T G het . 3 +intronic UNCX chr7 1273485 1273485 G C het . 3 +intergenic UNCX(dist=21575),MICALL2(dist=175458) chr7 1298537 1298537 G A het . 3 +intergenic UNCX(dist=52856),MICALL2(dist=144177) chr7 1329818 1329818 T G het . 2 +intergenic UNCX(dist=73150),MICALL2(dist=123883) chr7 1350112 1350112 T A het . 2 +intergenic UNCX(dist=93778),MICALL2(dist=103255) chr7 1370740 1370740 A G het . 2 +intergenic UNCX(dist=93785),MICALL2(dist=103248) chr7 1370747 1370747 C G het . 2 +intergenic UNCX(dist=133224),MICALL2(dist=63809) chr7 1410186 1410186 C T het . 3 +intergenic UNCX(dist=141039),MICALL2(dist=55994) chr7 1418001 1418001 - A het . 2 +intronic MICALL2 chr7 1476046 1476046 G A het . 3 +exonic MICALL2 chr7 1488369 1488369 C A het . 25 +intronic MICALL2 chr7 1488548 1488548 G T het . 4 +intronic INTS1 chr7 1523559 1523559 T C het . 5 +intronic INTS1 chr7 1526456 1526456 C T het . 5 +intronic INTS1 chr7 1528944 1528944 - AG het . 6 +intronic INTS1 chr7 1528946 1528947 AT - het . 6 +intronic INTS1 chr7 1532631 1532631 G A het . 7 +intronic INTS1 chr7 1534593 1534593 C A het . 13 +intronic INTS1 chr7 1535051 1535051 A G het . 3 +intronic INTS1 chr7 1538595 1538595 C A het . 5 +exonic INTS1 chr7 1538614 1538614 G A het . 6 +intronic INTS1 chr7 1543861 1543861 C A het . 5 +UTR5 INTS1(NM_001080453:c.-385G>T) chr7 1543981 1543981 C A het . 21 +intergenic INTS1(dist=1159),MAFK(dist=25191) chr7 1545177 1545177 T C het . 4 +intergenic INTS1(dist=3040),MAFK(dist=23310) chr7 1547058 1547058 C T het . 2 +exonic TMEM184A chr7 1586653 1586653 - GCC het . 16 +exonic TMEM184A chr7 1586662 1586662 T C het . 20 +intronic TMEM184A chr7 1586866 1586866 T C het . 2 +intronic TMEM184A chr7 1586871 1586871 G A het . 1 +intergenic TMEM184A(dist=9879),PSMG3(dist=1025) chr7 1605945 1605945 A - het . 3 +intergenic ELFN1(dist=56376),MAD1L1(dist=11462) chr7 1843966 1843966 T C het . 2 +intronic MAD1L1 chr7 1868582 1868582 A G het . 3 +intronic MAD1L1 chr7 1911950 1911950 C A het . 2 +intronic MAD1L1 chr7 1963122 1963122 G C het . 2 +intronic MAD1L1 chr7 1981673 1981673 C T het . 1 +intronic MAD1L1 chr7 2037761 2037761 G A het . 2 +intronic MAD1L1 chr7 2072089 2072089 G A het . 3 +intronic MAD1L1 chr7 2188774 2188774 C A het . 19 +intronic MRM2 chr7 2278578 2278578 G - het . 8 +intronic SNX8 chr7 2306597 2306597 C G het . 3 +intronic EIF3B chr7 2403105 2403105 - A het . 4 +intergenic EIF3B(dist=14145),CHST12(dist=8673) chr7 2434522 2434522 G A het . 14 +intergenic EIF3B(dist=19210),CHST12(dist=3608) chr7 2439587 2439587 C A het . 1 +intergenic EIF3B(dist=20345),CHST12(dist=2473) chr7 2440722 2440722 C T het . 2 +intergenic EIF3B(dist=20497),CHST12(dist=2321) chr7 2440874 2440874 C G het . 4 +exonic CHST12 chr7 2473128 2473128 C A het . 33 +UTR3 CHST12(NM_001243795:c.*25C>A,NM_001243794:c.*25C>A,NM_018641:c.*25C>A) chr7 2473544 2473544 C A het . 11 +intergenic GRIFIN(dist=2791),LFNG(dist=33355) chr7 2518808 2518808 A - het . 2 +intergenic GRIFIN(dist=7834),LFNG(dist=28312) chr7 2523851 2523851 A G het . 1 +intergenic GRIFIN(dist=13393),LFNG(dist=22753) chr7 2529410 2529410 G A het . 4 +intronic IQCE chr7 2608653 2608653 C A het . 25 +intronic IQCE chr7 2626039 2626048 CAGGGAATGG - het . 3 +intronic IQCE chr7 2628347 2628347 G A het . 3 +intronic IQCE chr7 2640985 2640985 G C het . 18 +intronic TTYH3 chr7 2689011 2689011 T C het . 1 +intronic TTYH3 chr7 2689472 2689472 A C het . 7 +intergenic TTYH3(dist=8530),AMZ1(dist=6190) chr7 2712966 2712966 G A het . 2 +intergenic TTYH3(dist=10937),AMZ1(dist=3783) chr7 2715373 2715373 C A het . 2 +exonic AMZ1 chr7 2742479 2742479 C A het . 19 +intronic AMZ1,GNA12 chr7 2803802 2803802 G T het . 3 +intergenic GNA12(dist=43586),CARD11(dist=18165) chr7 2927545 2927545 C T het . 2 +intergenic GNA12(dist=45468),CARD11(dist=16283) chr7 2929427 2929427 C T het . 2 +intergenic GNA12(dist=45863),CARD11(dist=15888) chr7 2929822 2929822 G T het . 3 +intronic CARD11 chr7 2956899 2956899 C T het . 14 +intronic CARD11 chr7 2973686 2973690 TTTTC - het . 2 +intergenic CARD11(dist=58177),LOC100129603(dist=38809) chr7 3141756 3141756 C T het . 2 +intergenic CARD11(dist=59475),LOC100129603(dist=37511) chr7 3143054 3143054 C A het . 2 +downstream LOC100129603(dist=15) chr7 3180550 3180550 - T het . 8 +intergenic LOC100129603(dist=41289),SDK1(dist=101585) chr7 3239495 3239495 T C het . 2 +intergenic LOC100129603(dist=49916),SDK1(dist=92958) chr7 3248122 3248122 G A het . 3 +intronic SDK1 chr7 3351304 3351304 G C het . 2 +intronic SDK1 chr7 3356463 3356463 G A het . 6 +intronic SDK1 chr7 3356483 3356483 G C het . 5 +intronic SDK1 chr7 3359491 3359491 T A het . 2 +intronic SDK1 chr7 3359919 3359919 - TC het . 2 +intronic SDK1 chr7 3378264 3378264 A - het . 5 +intronic SDK1 chr7 3400105 3400105 C T het . 1 +intronic SDK1 chr7 3478461 3478463 TTC - het . 2 +intronic SDK1 chr7 3544743 3544743 C T het . 2 +intronic SDK1 chr7 3594367 3594367 T G het . 2 +intronic SDK1 chr7 3815068 3815068 T A het . 1 +intronic SDK1 chr7 3860950 3860950 T A het . 4 +intronic SDK1 chr7 3867722 3867722 T C het . 1 +exonic SDK1 chr7 4153719 4153719 G T het . 6 +intronic SDK1 chr7 4183793 4183793 A G het . 1 +intronic SDK1 chr7 4272845 4272845 G A het . 6 +intergenic SDK1(dist=13155),FOXK1(dist=400144) chr7 4321786 4321786 A G het . 2 +intergenic SDK1(dist=13161),FOXK1(dist=400138) chr7 4321792 4321792 T G het . 2 +intergenic SDK1(dist=50423),FOXK1(dist=362876) chr7 4359054 4359054 T G het . 2 +intergenic SDK1(dist=50427),FOXK1(dist=362872) chr7 4359058 4359058 G T het . 2 +intergenic SDK1(dist=56350),FOXK1(dist=356949) chr7 4364981 4364981 C G het . 2 +intergenic SDK1(dist=207507),FOXK1(dist=205792) chr7 4516138 4516138 G A het . 2 +intergenic SDK1(dist=213262),FOXK1(dist=200037) chr7 4521893 4521893 G A het . 1 +intergenic SDK1(dist=216859),FOXK1(dist=196440) chr7 4525490 4525490 G A het . 2 +intergenic SDK1(dist=237501),FOXK1(dist=175798) chr7 4546132 4546132 A T het . 5 +intergenic SDK1(dist=258564),FOXK1(dist=154735) chr7 4567195 4567195 T C het . 2 +intergenic SDK1(dist=280674),FOXK1(dist=132625) chr7 4589305 4589305 G T het . 2 +intergenic SDK1(dist=290670),FOXK1(dist=122629) chr7 4599301 4599301 - A het . 3 +intergenic SDK1(dist=299807),FOXK1(dist=113492) chr7 4608438 4608438 C T het . 3 +intergenic SDK1(dist=305162),FOXK1(dist=108137) chr7 4613793 4613793 T A het . 3 +intronic RADIL chr7 4839134 4839134 T G het . 11 +intronic RADIL chr7 4904381 4904381 A T het . 2 +downstream MMD2(dist=730) chr7 4944890 4944890 G C het . 5 +intronic MMD2 chr7 4972256 4972256 T - het . 2 +intronic MMD2 chr7 4972279 4972279 A C het . 1 +intronic RBAK,RBAK-RBAKDN chr7 5087812 5087812 C G het . 7 +ncRNA_intronic ZNF890P chr7 5161859 5161859 A - het . 7 +ncRNA_intronic ZNF890P chr7 5182799 5182799 C G het . 1 +intergenic WIPI2(dist=2190),SLC29A4(dist=46885) chr7 5275676 5275676 A - het . 2 +intergenic WIPI2(dist=4456),SLC29A4(dist=44619) chr7 5277942 5277942 C A het . 2 +intergenic WIPI2(dist=35813),SLC29A4(dist=13262) chr7 5309299 5309299 C A het . 2 +intergenic WIPI2(dist=37913),SLC29A4(dist=11162) chr7 5311399 5311399 G A het . 1 +intronic TNRC18 chr7 5348340 5348340 G C het . 2 +intronic TNRC18 chr7 5385932 5385932 A G het . 1 +intronic TNRC18 chr7 5441615 5441615 G C het . 1 +intronic TNRC18 chr7 5442496 5442496 T A het . 2 +UTR3 FBXL18(NM_024963:c.*4609G>A) chr7 5516797 5516797 C T het . 2 +intronic FBXL18 chr7 5524033 5524033 T C het . 1 +intronic FBXL18 chr7 5533316 5533319 GTGT - het . 1 +intronic FBXL18 chr7 5538212 5538212 G T het . 2 +intronic FBXL18 chr7 5543146 5543146 T G het . 4 +intronic FBXL18 chr7 5543160 5543160 T - het . 4 +intronic FSCN1 chr7 5643479 5643479 C T het . 9 +intronic RNF216 chr7 5679394 5679394 - T het . 2 +intronic RNF216 chr7 5756449 5756449 C A het . 20 +intronic RNF216 chr7 5777154 5777156 AAT - het . 2 +intronic RNF216 chr7 5778890 5778890 C A het . 15 +intronic RNF216 chr7 5802939 5802939 G T het . 2 +intergenic RNF216(dist=1860),ZNF815P(dist=39570) chr7 5823221 5823221 T C het . 1 +intergenic RNF216(dist=36479),ZNF815P(dist=4951) chr7 5857840 5857840 G A het . 3 +intergenic RNF216(dist=38902),ZNF815P(dist=2528) chr7 5860263 5860263 T C het . 5 +ncRNA_intronic ZNF815P chr7 5881549 5881549 A G het . 2 +ncRNA_intronic ZNF815P chr7 5891343 5891343 G A het . 2 +intronic CCZ1 chr7 5947572 5947572 A - het . 4 +intronic RSPH10B,RSPH10B2 chr7 5982543 5982543 T A het . 2 +intronic RSPH10B,RSPH10B2 chr7 5982557 5982557 A T het . 2 +intronic PMS2 chr7 6018486 6018486 G A het . 8 +exonic PMS2 chr7 6026708 6026708 C A het . 44 +intronic PMS2 chr7 6031805 6031806 TT - het . 9 +intronic PMS2 chr7 6036848 6036849 AA - het . 17 +intronic PMS2 chr7 6037058 6037058 A - het . 14 +intronic PMS2 chr7 6037331 6037331 C A het . 2 +intronic PMS2 chr7 6038621 6038621 A - het . 6 +intronic PMS2 chr7 6043112 6043112 C T het . 5 +intronic EIF2AK1 chr7 6065914 6065914 T C het . 3 +intronic EIF2AK1 chr7 6080854 6080854 A - het . 7 +intronic EIF2AK1 chr7 6093838 6093838 - TTTA het . 2 +exonic EIF2AK1 chr7 6098625 6098625 G C het . 15 +intergenic EIF2AK1(dist=12946),USP42(dist=32744) chr7 6111806 6111806 T C het . 2 +intronic USP42 chr7 6171588 6171588 C T het . 2 +exonic USP42 chr7 6175526 6175526 C T het . 28 +intronic USP42 chr7 6175634 6175635 TT - het . 5 +intronic USP42 chr7 6185968 6185968 - A het . 8 +exonic USP42 chr7 6194542 6194542 A C het . 15 +intronic CYTH3 chr7 6204668 6204668 C A het . 26 +intronic CYTH3 chr7 6229949 6229949 T - het . 21 +intronic CYTH3 chr7 6229978 6229978 T - het . 14 +intronic CYTH3 chr7 6230060 6230060 T - het . 11 +intronic CYTH3 chr7 6243681 6243681 A - het . 4 +intergenic CYTH3(dist=47602),FAM220A(dist=9196) chr7 6359844 6359844 A - het . 2 +intronic FAM220A chr7 6381728 6381728 C T het . 2 +intronic FAM220A chr7 6382170 6382170 A - het . 4 +intronic FAM220A chr7 6385625 6385625 C G het . 1 +intronic FAM220A chr7 6386841 6386841 G T het . 2 +intergenic FAM220A(dist=6719),RAC1(dist=18817) chr7 6395309 6395309 G - het . 4 +intergenic FAM220A(dist=11654),RAC1(dist=13882) chr7 6400244 6400244 A T het . 3 +intronic RAC1 chr7 6416335 6416335 G T het . 2 +intronic RAC1 chr7 6436722 6436722 T A het . 2 +intergenic RAC1(dist=3443),DAGLB(dist=1706) chr7 6447041 6447041 A G het . 3 +intergenic RAC1(dist=3455),DAGLB(dist=1694) chr7 6447053 6447053 C T het . 2 +intronic DAGLB chr7 6460550 6460550 G T het . 2 +intronic DAGLB chr7 6463640 6463640 G A het . 3 +intronic DAGLB chr7 6475951 6475951 C G het . 5 +exonic DAGLB chr7 6476019 6476019 G A het . 20 +intergenic DAGLB(dist=8548),KDELR2(dist=4521) chr7 6496191 6496191 G T het . 2 +intronic KDELR2 chr7 6504366 6504368 TTT - het . 2 +intronic KDELR2 chr7 6509563 6509563 G A het . 5 +intronic KDELR2 chr7 6511121 6511121 C T het . 2 +exonic GRID2IP chr7 6541448 6541448 G A het . 20 +intronic GRID2IP chr7 6541544 6541544 G C het . 9 +exonic GRID2IP chr7 6542741 6542741 G A het . 8 +intronic GRID2IP chr7 6548038 6548038 G T het . 13 +exonic GRID2IP chr7 6548877 6548877 C T het . 5 +intronic GRID2IP chr7 6553690 6553690 A T het . 4 +intronic GRID2IP chr7 6560633 6560633 G C het . 4 +intronic GRID2IP chr7 6560649 6560649 G A het . 3 +exonic GRID2IP chr7 6590898 6590898 A C het . 12 +exonic GRID2IP chr7 6590904 6590904 A C het . 11 +intronic ZDHHC4 chr7 6618778 6618778 - T het . 2 +intronic ZDHHC4 chr7 6620409 6620409 T G het . 6 +intronic ZDHHC4 chr7 6622800 6622800 G C het . 12 +intronic ZDHHC4 chr7 6623553 6623553 A T het . 5 +intronic ZDHHC4 chr7 6628242 6628242 T C het . 18 +intronic C7orf26 chr7 6645319 6645319 C T het . 3 +exonic C7orf26 chr7 6647738 6647738 T C het . 3 +intronic ZNF853 chr7 6660525 6660525 G A het . 2 +exonic ZNF853 chr7 6661256 6661256 C G het . 50 +exonic ZNF853 chr7 6662086 6662086 G C het . 3 +downstream ZNF853(dist=78) chr7 6663999 6664003 CCTTC - het . 3 +downstream ZNF853(dist=300) chr7 6664221 6664221 T C het . 2 +downstream ZNF853(dist=324) chr7 6664245 6664245 T G het . 2 +intergenic ZNF853(dist=10035),ZNF316(dist=2997) chr7 6673956 6673956 C T het . 2 +intergenic ZNF316(dist=9678),ZNF12(dist=20476) chr7 6707588 6707588 C G het . 2 +intergenic ZNF316(dist=24485),ZNF12(dist=5669) chr7 6722395 6722395 C A het . 3 +exonic ZNF12 chr7 6731866 6731866 A G het . 48 +exonic ZNF12 chr7 6732293 6732293 C T het . 19 +intergenic ZNF12(dist=2028),PMS2CL(dist=26342) chr7 6748594 6748594 T C het . 2 +intergenic ZNF12(dist=9409),PMS2CL(dist=18961) chr7 6755975 6755975 C T het . 2 +intergenic ZNF12(dist=12372),PMS2CL(dist=15998) chr7 6758938 6758938 T C het . 2 +intergenic ZNF12(dist=12608),PMS2CL(dist=15762) chr7 6759174 6759174 G A het . 6 +intergenic ZNF12(dist=14218),PMS2CL(dist=14152) chr7 6760784 6760784 C T het . 4 +upstream PMS2CL(dist=128) chr7 6774808 6774808 - A het . 20 +intergenic CCZ1B(dist=33367),MIR3683(dist=207302) chr7 6899293 6899293 A G het . 17 +intergenic CCZ1B(dist=101996),MIR3683(dist=138673) chr7 6967922 6967922 - A het . 6 +intergenic CCZ1B(dist=109060),MIR3683(dist=131609) chr7 6974986 6974986 G A het . 3 +intergenic CCZ1B(dist=174574),MIR3683(dist=66095) chr7 7040500 7040500 T C het . 1 +intergenic CCZ1B(dist=194867),MIR3683(dist=45802) chr7 7060793 7060793 G A het . 2 +intergenic CCZ1B(dist=195718),MIR3683(dist=44951) chr7 7061644 7061644 A G het . 2 +intergenic CCZ1B(dist=206079),MIR3683(dist=34590) chr7 7072005 7072005 G C het . 2 +intergenic CCZ1B(dist=214646),MIR3683(dist=26023) chr7 7080572 7080572 C T het . 2 +intergenic LOC100131257(dist=34243),C1GALT1(dist=51586) chr7 7170660 7170660 G T het . 2 +intergenic LOC100131257(dist=34254),C1GALT1(dist=51575) chr7 7170671 7170671 T C het . 2 +intergenic LOC100131257(dist=55488),C1GALT1(dist=30341) chr7 7191905 7191905 - AG het . 1 +intergenic LOC100131257(dist=60069),C1GALT1(dist=25760) chr7 7196486 7196486 G C het . 1 +intergenic LOC101927354(dist=22416),COL28A1(dist=58128) chr7 7340116 7340116 A C het . 2 +intergenic LOC101927354(dist=23912),COL28A1(dist=56631) chr7 7341612 7341613 GT AC het . 2 +intronic COL28A1 chr7 7399349 7399349 G C het . 3 +intronic COL28A1 chr7 7399385 7399385 T A het . 2 +intronic COL28A1 chr7 7399404 7399404 C T het . 2 +intronic COL28A1 chr7 7400911 7400911 - AAGA het . 2 +intronic COL28A1 chr7 7400928 7400928 T - het . 2 +intronic COL28A1 chr7 7400936 7400936 T A het . 2 +intronic COL28A1 chr7 7472359 7472359 C A het . 13 +intronic COL28A1 chr7 7491873 7491874 AG CT het . 10 +intronic COL28A1 chr7 7530618 7530618 G T het . 2 +intronic COL28A1 chr7 7531442 7531442 C T het . 2 +intronic COL28A1 chr7 7534752 7534752 A T het . 2 +intronic MIOS chr7 7614019 7614019 G T het . 6 +intronic MIOS chr7 7625576 7625576 T - het . 9 +intronic MIOS chr7 7627966 7627966 G T het . 9 +intronic MIOS chr7 7627975 7627975 C G het . 10 +intronic MIOS chr7 7627994 7627994 T C het . 15 +intronic MIOS chr7 7628275 7628275 C T het . 16 +intronic MIOS chr7 7633757 7633757 G A het . 2 +intronic RPA3,UMAD1 chr7 7709337 7709337 A T het . 1 +intronic RPA3,UMAD1 chr7 7734829 7734829 C T het . 1 +intronic UMAD1 chr7 7821011 7821011 T C het . 1 +intronic UMAD1 chr7 7832733 7832733 C T het . 2 +intronic UMAD1 chr7 7870208 7870208 A G het . 2 +intronic UMAD1 chr7 7899607 7899607 T C het . 2 +intergenic UMAD1(dist=3794),LOC100505921(dist=66816) chr7 7922645 7922654 GAAGAAGAAA - het . 1 +intergenic UMAD1(dist=22833),LOC100505921(dist=47786) chr7 7941684 7941684 G A het . 2 +intergenic UMAD1(dist=55616),LOC100505921(dist=15002) chr7 7974467 7974468 TT - het . 4 +intergenic UMAD1(dist=55625),LOC100505921(dist=14994) chr7 7974476 7974476 A - het . 4 +intronic GLCCI1 chr7 8106270 8106270 G C het . 2 +intronic ICA1 chr7 8186842 8186842 A G het . 2 +intronic ICA1 chr7 8196529 8196529 A T het . 21 +intronic ICA1 chr7 8196568 8196585 AAAAAAAAAAAAAAAAAG - het . 21 +intronic ICA1 chr7 8204788 8204788 G A het . 2 +intronic ICA1 chr7 8204811 8204811 C T het . 3 +intronic NXPH1 chr7 8557562 8557562 A T het . 1 +intronic NXPH1 chr7 8575412 8575412 T C het . 2 +intronic NXPH1 chr7 8688591 8688591 A G het . 2 +intronic NXPH1 chr7 8688621 8688622 TT - het . 2 +intronic NXPH1 chr7 8700032 8700032 G C het . 2 +intronic NXPH1 chr7 8700058 8700058 G A het . 2 +intronic NXPH1 chr7 8700069 8700069 T G het . 2 +intronic NXPH1 chr7 8750204 8750204 T C het . 2 +exonic NXPH1 chr7 8790850 8790850 C A het . 28 +intergenic NXPH1(dist=4728),PER4(dist=876579) chr7 8797321 8797321 G A het . 1 +intergenic NXPH1(dist=9989),PER4(dist=871318) chr7 8802582 8802582 A G het . 2 +intergenic NXPH1(dist=77695),PER4(dist=803612) chr7 8870288 8870288 A G het . 2 +intergenic NXPH1(dist=115686),PER4(dist=765621) chr7 8908279 8908279 G A het . 2 +intergenic NXPH1(dist=296593),PER4(dist=584714) chr7 9089186 9089186 A C het . 1 +intergenic NXPH1(dist=296599),PER4(dist=584708) chr7 9089192 9089192 A G het . 1 +intergenic NXPH1(dist=296606),PER4(dist=584701) chr7 9089199 9089199 G T het . 2 +intergenic NXPH1(dist=326749),PER4(dist=554558) chr7 9119342 9119342 C A het . 2 +upstream PER4(dist=398) chr7 9673502 9673502 C G het . 1 +intergenic PER4(dist=281300),MGC4859(dist=532700) chr7 9956747 9956747 G T het . 3 +intergenic PER4(dist=281305),MGC4859(dist=532695) chr7 9956752 9956752 T - het . 3 +intergenic PER4(dist=573962),MGC4859(dist=240038) chr7 10249409 10249409 - T het . 2 +ncRNA_exonic MGC4859 chr7 10491938 10491938 T C het . 9 +intergenic PHF14(dist=61860),THSD7A(dist=200826) chr7 11209236 11209236 C T het . 4 +intergenic PHF14(dist=107648),THSD7A(dist=155038) chr7 11255024 11255024 T C het . 1 +intergenic PHF14(dist=136116),THSD7A(dist=126570) chr7 11283492 11283492 G A het . 1 +intronic THSD7A chr7 11693688 11693688 A G het . 1 +intronic VWDE chr7 12372904 12372904 C G het . 2 +intronic VWDE chr7 12372911 12372911 A C het . 3 +intronic VWDE chr7 12372999 12372999 T G het . 3 +intronic VWDE chr7 12393966 12393966 A G het . 3 +intronic VWDE chr7 12393974 12393974 A C het . 3 +intronic VWDE chr7 12417330 12417330 C - het . 3 +intergenic VWDE(dist=50241),LOC102725191(dist=42247) chr7 12493808 12493808 A - het . 2 +intergenic VWDE(dist=74095),LOC102725191(dist=18393) chr7 12517662 12517662 T C het . 1 +intergenic LOC102725191(dist=24512),SCIN(dist=4930) chr7 12605273 12605273 G A het . 2 +exonic SCIN chr7 12610594 12610594 A G het . 2 +intronic SCIN chr7 12689322 12689322 C T het . 1 +intergenic ARL4A(dist=848051),ETV1(dist=352247) chr7 13578609 13578609 A T het . 2 +intergenic ARL4A(dist=1095355),ETV1(dist=104943) chr7 13825913 13825913 G A het . 4 +intronic ETV1 chr7 14017126 14017126 - A het . 9 +intronic ETV1 chr7 14026439 14026439 A - het . 13 +intronic DGKB chr7 14512015 14512015 G A het . 3 +intronic DGKB chr7 14622870 14622870 A T het . 4 +intronic DGKB chr7 14686396 14686396 - A het . 4 +intronic DGKB chr7 14712708 14712708 G C het . 14 +intronic DGKB chr7 14737623 14737626 AAAG - het . 15 +intronic DGKB chr7 14739829 14739829 G T het . 3 +intronic DGKB chr7 14775822 14775822 G - het . 16 +intronic DGKB chr7 14775824 14775824 A C het . 16 +intronic DGKB chr7 14831303 14831303 T C het . 2 +intronic DGKB chr7 14842034 14842034 G A het . 4 +intronic DGKB chr7 14881080 14881081 AA - het . 2 +intronic DGKB chr7 14945694 14945694 C T het . 1 +intronic DGKB chr7 14988867 14988867 A G het . 1 +intergenic DGKB(dist=38905),AGMO(dist=186636) chr7 15053307 15053307 G A het . 2 +intergenic DGKB(dist=70739),AGMO(dist=154802) chr7 15085141 15085141 T C het . 3 +intergenic DGKB(dist=86672),AGMO(dist=138869) chr7 15101074 15101074 G A het . 3 +intergenic DGKB(dist=188951),AGMO(dist=36590) chr7 15203353 15203353 C T het . 3 +intergenic DGKB(dist=212238),AGMO(dist=13303) chr7 15226640 15226640 T C het . 1 +intronic AGMO chr7 15284436 15284436 G C het . 2 +intronic AGMO chr7 15365546 15365546 C A het . 2 +intronic AGMO chr7 15366795 15366795 G T het . 3 +intronic AGMO chr7 15426866 15426866 A T het . 3 +intronic AGMO chr7 15499834 15499834 A C het . 2 +intronic AGMO chr7 15523230 15523230 C A het . 4 +intronic AGMO chr7 15597860 15597860 A - het . 2 +intergenic AGMO(dist=15317),MEOX2(dist=33880) chr7 15616957 15616957 C G het . 2 +intergenic AGMO(dist=28567),MEOX2(dist=20630) chr7 15630207 15630207 T C het . 2 +intergenic AGMO(dist=29114),MEOX2(dist=20083) chr7 15630754 15630754 A G het . 1 +intronic MEOX2 chr7 15703133 15703133 T - het . 2 +UTR5 MEOX2(NM_005924:c.-102T>G) chr7 15726129 15726129 A C het . 6 +intergenic LINC02587(dist=37168),ISPD(dist=353467) chr7 15773685 15773685 C T het . 2 +intergenic LINC02587(dist=114195),ISPD(dist=276440) chr7 15850712 15850712 T A het . 3 +intergenic LINC02587(dist=151137),ISPD(dist=239498) chr7 15887654 15887654 A - het . 3 +intergenic LINC02587(dist=152969),ISPD(dist=237666) chr7 15889486 15889486 A T het . 1 +intergenic LINC02587(dist=166492),ISPD(dist=224143) chr7 15903009 15903009 G A het . 3 +intergenic LINC02587(dist=215844),ISPD(dist=174791) chr7 15952361 15952361 C A het . 3 +intergenic LINC02587(dist=233264),ISPD(dist=157371) chr7 15969781 15969781 C T het . 2 +intergenic LINC02587(dist=294491),ISPD(dist=96144) chr7 16031008 16031008 - A het . 2 +intergenic LINC02587(dist=327958),ISPD(dist=62677) chr7 16064475 16064475 A - het . 3 +intergenic LINC02587(dist=357955),ISPD(dist=32680) chr7 16094472 16094472 G A het . 2 +intergenic LINC02587(dist=383890),ISPD(dist=6745) chr7 16120407 16120407 A T het . 1 +downstream ISPD(dist=443) chr7 16126709 16126709 A T het . 1 +intronic ISPD chr7 16182623 16182623 T A het . 2 +ncRNA_intronic ISPD-AS1 chr7 16298434 16298434 T C het . 17 +ncRNA_intronic ISPD-AS1 chr7 16298438 16298438 T G het . 18 +intronic ISPD chr7 16328627 16328627 G A het . 4 +intronic ISPD chr7 16334863 16334863 G A het . 1 +intronic ISPD chr7 16366151 16366151 T A het . 1 +intronic ISPD chr7 16400685 16400685 T A het . 2 +upstream ISPD(dist=145) chr7 16461092 16461092 T C het . 2 +intergenic SOSTDC1(dist=26294),LRRC72(dist=34737) chr7 16531768 16531768 T C het . 2 +intergenic SOSTDC1(dist=53012),LRRC72(dist=8019) chr7 16558486 16558486 A T het . 1 +intronic LRRC72 chr7 16572377 16572377 A - het . 16 +intronic LRRC72 chr7 16572403 16572403 C A het . 22 +intronic LRRC72 chr7 16577234 16577234 T - het . 29 +intronic LRRC72 chr7 16592031 16592032 GT - het . 5 +intronic ANKMY2 chr7 16658718 16658718 C T het . 2 +intronic ANKMY2 chr7 16660099 16660099 G A het . 2 +intronic ANKMY2 chr7 16661620 16661620 A G het . 1 +intronic ANKMY2 chr7 16662435 16662435 G C het . 1 +intronic ANKMY2 chr7 16665587 16665587 C A het . 2 +intronic ANKMY2 chr7 16676083 16676085 AAA - het . 26 +intronic BZW2 chr7 16725386 16725386 C T het . 6 +intronic BZW2 chr7 16736479 16736479 C G het . 13 +intergenic BZW2(dist=44082),TSPAN13(dist=3121) chr7 16790230 16790230 G A het . 2 +intronic AGR2 chr7 16837404 16837404 C T het . 29 +intronic AGR2 chr7 16837426 16837426 A G het . 27 +intronic AGR2 chr7 16839086 16839086 A G het . 5 +intronic AGR2 chr7 16839100 16839100 A G het . 5 +intergenic AGR2(dist=18767),AGR3(dist=35525) chr7 16863505 16863505 G A het . 2 +intergenic AGR2(dist=29594),AGR3(dist=24698) chr7 16874332 16874332 T C het . 1 +intronic AGR3 chr7 16914739 16914742 AAAA - het . 3 +intergenic AGR3(dist=29012),AHR(dist=387651) chr7 16950625 16950625 G A het . 1 +intergenic AGR3(dist=45367),AHR(dist=371296) chr7 16966980 16966980 C A het . 2 +intergenic AGR3(dist=65987),AHR(dist=350676) chr7 16987600 16987600 A C het . 3 +intergenic AGR3(dist=79395),AHR(dist=337268) chr7 17001008 17001008 G T het . 2 +intergenic AGR3(dist=86554),AHR(dist=330109) chr7 17008167 17008167 A G het . 2 +intergenic AGR3(dist=385373),AHR(dist=31290) chr7 17306986 17306986 C T het . 3 +exonic AHR chr7 17373720 17373720 C A het . 37 +ncRNA_intronic KCCAT333 chr7 17445333 17445333 C G het . 1 +ncRNA_intronic KCCAT333 chr7 17472762 17472762 C T het . 2 +ncRNA_intronic KCCAT333 chr7 17472775 17472778 TTTT - het . 2 +ncRNA_intronic LOC101927630 chr7 17520523 17520523 C T het . 1 +intergenic LOC101927630(dist=97219),SNX13(dist=134633) chr7 17695752 17695752 C A het . 1 +intergenic LOC101927630(dist=101631),SNX13(dist=130221) chr7 17700164 17700164 C G het . 1 +intergenic LOC101927630(dist=125429),SNX13(dist=106423) chr7 17723962 17723962 G A het . 1 +intergenic LOC101927630(dist=161504),SNX13(dist=70348) chr7 17760037 17760037 A - het . 3 +intergenic LOC101927630(dist=185111),SNX13(dist=46741) chr7 17783644 17783644 A T het . 2 +intergenic LOC101927630(dist=225823),SNX13(dist=6029) chr7 17824356 17824356 C A het . 2 +intronic SNX13 chr7 17890414 17890414 A - het . 7 +intronic SNX13 chr7 17893156 17893156 T A het . 3 +intronic SNX13 chr7 17893576 17893576 A G het . 3 +intronic SNX13 chr7 17909503 17909504 AC - het . 3 +intronic SNX13 chr7 17909514 17909514 C G het . 3 +intronic SNX13 chr7 17915263 17915263 C T het . 20 +intronic SNX13 chr7 17955076 17955076 G A het . 2 +intronic SNX13 chr7 17955083 17955083 A G het . 2 +intergenic SNX13(dist=39114),PRPS1L1(dist=47155) chr7 18019245 18019245 G A het . 2 +intronic HDAC9 chr7 18260805 18260805 A C het . 2 +intronic HDAC9 chr7 18260819 18260819 C G het . 5 +intronic HDAC9 chr7 18287938 18287938 G T het . 4 +intronic HDAC9 chr7 18668890 18668890 T - het . 9 +intronic HDAC9 chr7 18781558 18781558 C G het . 3 +intronic HDAC9 chr7 18863600 18863602 AAG - het . 5 +UTR3 TWIST1(NM_000474:c.*8A>C) chr7 19156328 19156328 T G het . 5 +intergenic FERD3L(dist=496646),TWISTNB(dist=53395) chr7 19681690 19681690 T C het . 1 +intergenic FERD3L(dist=503219),TWISTNB(dist=46822) chr7 19688263 19688263 C T het . 2 +intronic TMEM196 chr7 19800119 19800119 G T het . 2 +intronic TMEM196 chr7 19800137 19800137 T C het . 2 +intergenic TMEM196(dist=6592),LOC101927668(dist=138984) chr7 19819620 19819620 A C het . 1 +intergenic TMEM196(dist=97666),LOC101927668(dist=47910) chr7 19910694 19910694 - G het . 2 +ncRNA_intronic LOC101927668 chr7 20042320 20042320 C A het . 15 +ncRNA_intronic LOC101927668 chr7 20042913 20042916 AAAT - het . 3 +intergenic LOC100506098(dist=62973),LOC101927769(dist=12034) chr7 20324295 20324297 CTC - het . 2 +intergenic LOC100506098(dist=62984),LOC101927769(dist=12025) chr7 20324306 20324306 C T het . 2 +UTR5 ITGB8(NM_002214:c.-35T>C) chr7 20371395 20371395 T C het . 8 +exonic ITGB8 chr7 20421490 20421490 T C het . 6 +exonic ABCB5 chr7 20682869 20682869 C T het . 18 +exonic SP8 chr7 20824044 20824046 GCC - het . 8 +intergenic SP8(dist=4463),RPL23P8(dist=35946) chr7 20830971 20830971 A - het . 2 +exonic SP4 chr7 21469301 21469301 C A het . 7 +intronic SP4 chr7 21516628 21516628 T - het . 2 +intergenic SP4(dist=23433),DNAH11(dist=4960) chr7 21577873 21577873 C T het . 2 +intronic DNAH11 chr7 21775210 21775210 A G het . 3 +intronic DNAH11 chr7 21813318 21813318 - T het . 3 +intronic DNAH11 chr7 21843701 21843705 TTTTG - het . 4 +UTR3 CDCA7L(NM_018719:c.*78_*75delAAGA,NM_001127370:c.*78_*75delAAGA,NM_001127371:c.*78_*75delAAGA) chr7 21941862 21941865 TCTT - het . 4 +intronic RAPGEF5 chr7 22357716 22357716 T G het . 3 +intergenic RAPGEF5(dist=49023),STEAP1B(dist=13501) chr7 22445556 22445562 TTGTTGT - het . 4 +intergenic LOC401312(dist=24495),LOC541472(dist=35366) chr7 22729647 22729648 GT - het . 2 +intergenic IL6(dist=41556),TOMM7(dist=39074) chr7 22813177 22813177 - C het . 3 +intergenic IL6(dist=41567),TOMM7(dist=39063) chr7 22813188 22813188 - TTTTTTT het . 3 +intergenic SNHG26(dist=11964),FAM126A(dist=67859) chr7 22913019 22913019 A T het . 2 +UTR3 FAM126A(NM_001363467:c.*758T>G,NM_001363466:c.*800T>G,NM_032581:c.*198T>G) chr7 22985010 22985010 A C het . 3 +intergenic FAM126A(dist=45044),KLHL7-DT(dist=42033) chr7 23098814 23098814 - AAAG het . 3 +exonic KLHL7 chr7 23163421 23163421 T C het . 29 +intronic KLHL7 chr7 23195287 23195287 C A het . 1 +intronic KLHL7 chr7 23195556 23195560 TTTAT - het . 8 +intronic GPNMB chr7 23300049 23300049 A C het . 6 +intronic CCDC126 chr7 23659196 23659196 T A het . 3 +intronic CCDC126 chr7 23659199 23659199 G A het . 3 +intronic STK31 chr7 23869959 23869959 T C het . 2 +UTR3 STK31(NM_001260505:c.*39_*40insTTTG,NM_031414:c.*39_*40insTTTG,NM_001260504:c.*39_*40insTTTG,NM_032944:c.*39_*40insTTTG) chr7 23872024 23872024 - TTTG het . 16 +intergenic STK31(dist=197698),NPY(dist=253979) chr7 24069828 24069828 C T het . 1 +intergenic STK31(dist=331036),NPY(dist=120639) chr7 24203166 24203168 AAG - het . 2 +intergenic STK31(dist=349025),NPY(dist=102652) chr7 24221155 24221155 C T het . 1 +intergenic NPY(dist=102638),MPP6(dist=178843) chr7 24434122 24434122 T G het . 1 +intronic MPP6 chr7 24689982 24689982 A G het . 3 +intronic MPP6 chr7 24705541 24705541 A T het . 3 +intronic GSDME chr7 24784403 24784403 C T het . 17 +intronic GSDME chr7 24784427 24784427 G A het . 12 +intronic GSDME chr7 24789082 24789082 C T het . 5 +intronic GSDME chr7 24789117 24789120 AAAA - het . 10 +intronic OSBPL3 chr7 25009698 25009698 T C het . 2 +intronic CYCS chr7 25163932 25163933 GG AA het . 2 +intronic C7orf31 chr7 25194618 25194618 G A het . 4 +upstream MIR148A(dist=127) chr7 25989733 25989733 A - het . 4 +intergenic MIR148A(dist=23919),NFE2L3(dist=178322) chr7 26013525 26013525 C A het . 2 +UTR3 CBX3(NM_007276:c.*15C>T,NM_016587:c.*15C>T) chr7 26251843 26251843 C T het . 10 +ncRNA_intronic LOC105375304 chr7 26413309 26413309 C T het . 2 +exonic HOXA10 chr7 27212995 27212995 T C het . 19 +exonic HOXA11 chr7 27222616 27222616 G T het . 12 +intergenic EVX1(dist=244955),HIBADH(dist=32666) chr7 27532393 27532393 G C het . 2 +intronic HIBADH chr7 27570759 27570759 T C het . 4 +intergenic HIBADH(dist=42387),TAX1BP1(dist=33985) chr7 27745007 27745007 - TCG het . 2 +intronic TAX1BP1 chr7 27824635 27824635 A G het . 4 +intronic CREB5 chr7 28485718 28485718 G A het . 2 +intronic CREB5 chr7 28858456 28858456 A G het . 9 +ncRNA_intronic LOC100506497 chr7 29035220 29035220 C A het . 13 +intronic CHN2 chr7 29251941 29251941 C A het . 7 +intronic CHN2 chr7 29394221 29394223 TTT - het . 11 +intronic CHN2 chr7 29440543 29440543 C A het . 2 +intronic CHN2 chr7 29544298 29544298 - T het . 2 +ncRNA_exonic DPY19L2P3,ZNRF2P2 chr7 29725168 29725168 C G het . 3 +ncRNA_exonic DPY19L2P3 chr7 29726917 29726917 G A het . 4 +intronic MTURN chr7 30177095 30177095 G T het . 3 +intronic NOD1 chr7 30485741 30485741 A G het . 3 +UTR3 GARS(NM_001316772:c.*37_*38delAA,NM_002047:c.*37_*38delAA) chr7 30673513 30673514 AA - het . 13 +intronic CRHR2 chr7 30695483 30695483 G A het . 4 +intergenic ADCYAP1R1(dist=69040),NEUROD6(dist=156942) chr7 31220133 31220133 - T het . 4 +intergenic ADCYAP1R1(dist=219440),NEUROD6(dist=6542) chr7 31370533 31370533 A - het . 5 +intergenic NEUROD6(dist=79372),ITPRID1(dist=93775) chr7 31459910 31459910 C T het . 5 +intronic ITPRID1 chr7 31594150 31594150 G T het . 12 +intronic ITPRID1 chr7 31594166 31594166 C T het . 11 +exonic PDE1C chr7 31862735 31862735 C A het . 10 +intronic PDE1C chr7 32238745 32238745 T A het . 2 +intergenic LOC100130673(dist=13649),LSM5(dist=13190) chr7 32511755 32511755 A G het . 2 +intronic AVL9 chr7 32593271 32593271 G A het . 3 +intronic AVL9 chr7 32594431 32594431 G A het . 3 +intronic AVL9 chr7 32598359 32598359 G A het . 2 +ncRNA_exonic DPY19L1P1 chr7 32620689 32620689 - TA het . 3 +ncRNA_intronic DPY19L1P1 chr7 32659836 32659836 G A het . 4 +UTR3 NT5C3A(NM_001166118:c.*227delA,NM_016489:c.*227delA,NM_001356996:c.*227delA,NM_001002009:c.*227delA,NM_001002010:c.*227delA) chr7 33054115 33054115 T - het . 21 +intronic RP9 chr7 33136257 33136257 T - het . 6 +intergenic BBS9(dist=67269),BMPER(dist=201875) chr7 33742648 33742648 A G het . 1 +ncRNA_intronic NPSR1-AS1 chr7 34697982 34697982 A G het . 4 +exonic TBX20 chr7 35293193 35293193 A G het . 9 +intergenic TBX20(dist=55435),LOC401324(dist=4320) chr7 35349146 35349146 T G het . 2 +intergenic LOC401324(dist=133272),HERPUD2(dist=122912) chr7 35549358 35549358 G A het . 2 +intronic SEPT7 chr7 35919741 35919741 G C het . 2 +exonic ANLN chr7 36447349 36447349 - CTT het . 18 +intronic ANLN chr7 36450631 36450631 C T het . 4 +intronic ANLN chr7 36456614 36456614 C - het . 5 +intronic ANLN chr7 36459570 36459570 T - het . 2 +intronic ANLN chr7 36465570 36465570 T C het . 6 +intronic ANLN chr7 36465607 36465608 TT - het . 5 +intronic AOAH chr7 36739238 36739238 A G het . 1 +intronic AOAH chr7 36739240 36739242 TTG - het . 1 +intronic ELMO1 chr7 37209212 37209212 G A het . 2 +intronic ELMO1 chr7 37355895 37355895 T C het . 2 +intergenic ELMO1(dist=136142),GPR141(dist=98307) chr7 37625071 37625071 A T het . 4 +intergenic GPR141(dist=59201),NME8(dist=45575) chr7 37842624 37842624 T - het . 2 +intronic NME8 chr7 37904066 37904068 AAC - het . 17 +intronic NME8 chr7 37904099 37904099 G A het . 17 +intronic NME8 chr7 37905420 37905420 G A het . 2 +exonic NME8 chr7 37934146 37934147 TA CT het . 31 +UTR5 EPDR1(NM_001242946:c.-279_-267del-,NM_017549:c.-279_-267del-) chr7 37960263 37960275 AGGCAGTGGCAGC - het . 7 +intergenic EPDR1(dist=6909),STARD3NL(dist=219357) chr7 37998451 37998451 C A het . 2 +intergenic EPDR1(dist=47136),STARD3NL(dist=179130) chr7 38038678 38038678 G A het . 2 +intergenic EPDR1(dist=219855),STARD3NL(dist=6411) chr7 38211397 38211397 C A het . 2 +intergenic STARD3NL(dist=14582),TARP(dist=14390) chr7 38284854 38284854 C T het . 4 +intergenic STARD3NL(dist=14615),TARP(dist=14357) chr7 38284887 38284887 T G het . 3 +intronic TARP chr7 38301832 38301832 G A het . 9 +intronic AMPH chr7 38543103 38543103 T G het . 2 +intronic AMPH chr7 38543104 38543104 - C het . 2 +intronic VPS41 chr7 38805005 38805005 - G het . 3 +intronic VPS41 chr7 38867912 38867912 A - het . 2 +intronic POU6F2 chr7 39410718 39410718 C T het . 2 +intronic POU6F2 chr7 39446544 39446544 C T het . 4 +downstream POU6F2(dist=440) chr7 39504830 39504830 T C het . 1 +exonic SUGCT chr7 40220548 40220548 A G het . 11 +intronic SUGCT chr7 40899737 40899737 T C het . 2 +ncRNA_exonic LINC01450 chr7 41019034 41019034 A C het . 1 +intergenic LINC01449(dist=131539),INHBA(dist=420074) chr7 41304638 41304638 G C het . 2 +intronic GLI3 chr7 42262936 42262936 A - het . 6 +intergenic GLI3(dist=18057),LINC01448(dist=406651) chr7 42294675 42294675 G C het . 2 +intergenic GLI3(dist=183023),LINC01448(dist=241685) chr7 42459641 42459641 G A het . 4 +intergenic GLI3(dist=183044),LINC01448(dist=241664) chr7 42459662 42459662 C G het . 4 +intergenic GLI3(dist=259902),LINC01448(dist=164806) chr7 42536520 42536520 G T het . 2 +intergenic GLI3(dist=259913),LINC01448(dist=164795) chr7 42536531 42536531 A G het . 2 +intergenic LINC01448(dist=95884),C7orf25(dist=106939) chr7 42841930 42841933 AAAT - het . 10 +intergenic LINC01448(dist=95897),C7orf25(dist=106929) chr7 42841943 42841943 A C het . 10 +intergenic LINC01448(dist=112289),C7orf25(dist=90531) chr7 42858335 42858341 GAAGAAG - het . 3 +intergenic MRPL32(dist=112341),HECW1(dist=62404) chr7 43089794 43089794 A G het . 3 +intergenic MRPL32(dist=112349),HECW1(dist=62396) chr7 43089802 43089802 G A het . 4 +intronic HECW1 chr7 43413584 43413584 G A het . 1 +intronic HECW1 chr7 43423450 43423450 A G het . 1 +intronic HECW1 chr7 43591955 43591955 A G het . 7 +intronic UBE2D4 chr7 43971595 43971595 - TT het . 2 +ncRNA_intronic POLR2J4 chr7 44046844 44046844 A G het . 2 +exonic SPDYE1 chr7 44047066 44047066 T C het . 7 +intergenic POLR2J4(dist=1671),RASA4CP(dist=8022) chr7 44060464 44060464 A G het . 3 +intronic POLM chr7 44119132 44119132 A C het . 2 +exonic AEBP1 chr7 44153780 44153780 A G het . 20 +intronic POLD2 chr7 44154865 44154865 - G het . 7 +UTR5 GCK(NM_001354802:c.-448C>A) chr7 44185656 44185656 G T het . 1 +intronic CAMK2B chr7 44282369 44282369 T C het . 2 +splicing CAMK2B(NM_172078:exon7:c.415-1G>T,NM_172084:exon7:c.415-1G>T,NM_172083:exon7:c.415-1G>T,NM_172082:exon7:c.415-1G>T,NM_001220:exon7:c.415-1G>T,NM_172081:exon7:c.415-1G>T,NM_001293170:exon7:c.415-1G>T,NM_172080:exon7:c.415-1G>T,NM_172079:exon7:c.415-1G>T) chr7 44283127 44283127 C A het . 11 +intronic NUDCD3 chr7 44507416 44507416 - A het . 6 +intronic NPC1L1 chr7 44555573 44555573 T G het . 4 +intronic DDX56 chr7 44612347 44612347 G C het . 3 +intronic OGDH chr7 44745253 44745253 T C het . 1 +intronic PPIA chr7 44840864 44840864 G A het . 6 +intergenic PPIA(dist=19919),H2AFV(dist=3847) chr7 44862641 44862641 T G het . 8 +exonic PURB chr7 44924627 44924627 A C het . 7 +intronic CCM2 chr7 45050206 45050206 A T het . 2 +exonic NACAD chr7 45124008 45124008 T C het . 5 +intergenic RAMP3(dist=2014),ADCY1(dist=387875) chr7 45225864 45225864 C A het . 6 +intergenic LOC730234(dist=7072),IGFBP1(dist=73437) chr7 45854581 45854581 - CAGCCT het . 6 +intergenic IGFBP3(dist=321252),LOC730338(dist=445354) chr7 46282123 46282123 G T het . 1 +intergenic IGFBP3(dist=713477),LOC730338(dist=53129) chr7 46674348 46674348 A G het . 8 +intergenic IGFBP3(dist=721266),LOC730338(dist=45340) chr7 46682137 46682137 G T het . 1 +intergenic LOC730338(dist=182495),TNS3(dist=395537) chr7 46919215 46919215 A G het . 1 +intergenic LOC730338(dist=431327),TNS3(dist=146705) chr7 47168047 47168047 T A het . 2 +intronic TNS3 chr7 47546547 47546547 G A het . 9 +intronic TNS3 chr7 47578814 47578814 G T het . 5 +intergenic C7orf65(dist=74407),LINC00525(dist=25421) chr7 47775653 47775653 - TCTT het . 2 +intronic C7orf69,PKD1L1 chr7 47840510 47840510 T C het . 2 +intronic C7orf69,PKD1L1 chr7 47853498 47853498 C T het . 15 +intronic PKD1L1 chr7 47874062 47874062 G A het . 5 +intronic PKD1L1 chr7 47943953 47943953 C T het . 6 +intronic HUS1 chr7 48009018 48009019 AA GT het . 8 +intronic HUS1 chr7 48010978 48010978 T C het . 3 +intronic SUN3 chr7 48045524 48045524 T - het . 9 +intronic C7orf57 chr7 48084896 48084896 - T het . 2 +exonic C7orf57 chr7 48092486 48092486 T C het . 5 +exonic UPP1 chr7 48147853 48147853 G A het . 3 +intronic ABCA13 chr7 48232422 48232422 G C het . 8 +exonic ABCA13 chr7 48312023 48312023 C A het . 27 +exonic ABCA13 chr7 48318709 48318709 G A het . 27 +intronic ABCA13 chr7 48413859 48413859 C T het . 2 +intronic ABCA13 chr7 48506416 48506416 G C het . 2 +intronic ABCA13 chr7 48522845 48522846 CA GG het . 12 +exonic ABCA13 chr7 48545976 48545976 A G het . 3 +exonic ABCA13 chr7 48626765 48626765 A G het . 9 +intergenic ABCA13(dist=246900),CDC14C(dist=30166) chr7 48933991 48933991 A T het . 2 +intergenic CDC14C(dist=90621),VWC2(dist=755586) chr7 49057671 49057671 C T het . 2 +intergenic CDC14C(dist=191613),VWC2(dist=654594) chr7 49158663 49158663 C T het . 2 +intergenic CDC14C(dist=308785),VWC2(dist=537422) chr7 49275835 49275835 G T het . 1 +intergenic CDC14C(dist=351251),VWC2(dist=494956) chr7 49318301 49318301 C T het . 6 +intergenic CDC14C(dist=653964),VWC2(dist=192243) chr7 49621014 49621014 C T het . 1 +intronic VWC2 chr7 49951544 49951544 T C het . 2 +intergenic VWC2(dist=8147),ZPBP(dist=12531) chr7 49964493 49964493 C G het . 2 +intronic ZPBP chr7 50121101 50121101 T A het . 4 +intronic ZPBP chr7 50121108 50121108 A C het . 4 +intronic ZPBP chr7 50121113 50121113 G A het . 4 +intronic SPATA48 chr7 50144059 50144059 - TA het . 5 +intronic SPATA48 chr7 50179609 50179609 C T het . 5 +intergenic SPATA48(dist=15438),IKZF1(dist=129389) chr7 50214290 50214290 A G het . 2 +downstream IKZF1(dist=453) chr7 50473251 50473251 A G het . 1 +intronic DDC chr7 50537678 50537679 AA - het . 14 +intronic GRB10 chr7 50685625 50685625 A T het . 2 +intronic GRB10 chr7 50799889 50799889 C T het . 4 +UTR3 COBL(NM_001346441:c.*120_*121insA,NM_001346443:c.*120_*121insA,NM_015198:c.*120_*121insA,NM_001346442:c.*120_*121insA,NM_001287436:c.*120_*121insA) chr7 51085127 51085127 - T het . 4 +intronic COBL chr7 51109087 51109087 A C het . 2 +intergenic COBL(dist=65265),POM121L12(dist=1653526) chr7 51449823 51449823 T G het . 2 +intergenic COBL(dist=313102),POM121L12(dist=1405689) chr7 51697660 51697660 G A het . 1 +intergenic COBL(dist=941993),POM121L12(dist=776798) chr7 52326551 52326551 G A het . 2 +intergenic COBL(dist=1062980),POM121L12(dist=655811) chr7 52447538 52447538 T C het . 2 +intergenic COBL(dist=1124065),POM121L12(dist=594726) chr7 52508623 52508623 C A het . 1 +intergenic COBL(dist=1124075),POM121L12(dist=594716) chr7 52508633 52508633 T C het . 2 +intergenic COBL(dist=1266766),POM121L12(dist=452024) chr7 52651324 52651325 AT TA het . 2 +intergenic COBL(dist=1651668),POM121L12(dist=67123) chr7 53036226 53036226 - A het . 2 +intergenic POM121L12(dist=277764),LINC01446(dist=340820) chr7 53382382 53382382 T A het . 2 +intergenic POM121L12(dist=567843),LINC01446(dist=50741) chr7 53672461 53672461 A G het . 2 +intergenic POM121L12(dist=567871),LINC01446(dist=50713) chr7 53672489 53672489 - C het . 2 +intergenic POM121L12(dist=613905),LINC01446(dist=4679) chr7 53718523 53718523 A G het . 2 +intergenic LINC01446(dist=245925),LINC01445(dist=272841) chr7 54125549 54125549 A - het . 2 +intronic VSTM2A chr7 54621990 54621990 C T het . 2 +intergenic VSTM2A-OT1(dist=52041),SEC61G(dist=128480) chr7 54691460 54691460 A T het . 1 +exonic EGFR chr7 55249063 55249063 G A het . 5 +intergenic VOPP1(dist=73632),FKBP9P1(dist=34922) chr7 55713845 55713845 C T het . 2 +intronic NIPSNAP2 chr7 56052411 56052412 AA - het . 4 +intronic PSPH chr7 56079744 56079744 A G het . 5 +intergenic LOC101928401(dist=198184),LOC401357(dist=72810) chr7 56804007 56804007 A - het . 5 +intergenic LOC401357(dist=11271),LOC100130849(dist=51378) chr7 56891700 56891700 G A het . 2 +intergenic MIR4283-2(dist=48154),ZNF479(dist=115601) chr7 57071725 57071725 C T het . 8 +intergenic MIR4283-2(dist=48212),ZNF479(dist=115543) chr7 57071783 57071783 G A het . 3 +intergenic LOC105375297(dist=91636),MIR3147(dist=91209) chr7 57381517 57381522 AAAAAG - het . 4 +intergenic LOC105375297(dist=124070),MIR3147(dist=58779) chr7 57413951 57413952 AA - het . 2 +intergenic ZNF716(dist=11925),NONE(dist=NONE) chr7 57545190 57545190 A G het . 4 +intergenic ZNF716(dist=11961),NONE(dist=NONE) chr7 57545226 57545227 TG - het . 6 +intergenic ZNF716(dist=73346),NONE(dist=NONE) chr7 57606611 57606611 T A het . 1 +intergenic ZNF716(dist=73355),NONE(dist=NONE) chr7 57606620 57606624 CTTAT - het . 2 +intergenic ZNF716(dist=73374),NONE(dist=NONE) chr7 57606639 57606639 C A het . 2 +intergenic ZNF716(dist=73386),NONE(dist=NONE) chr7 57606651 57606651 A G het . 2 +intergenic ZNF716(dist=75317),NONE(dist=NONE) chr7 57608582 57608583 TC - het . 3 +intergenic ZNF716(dist=75337),NONE(dist=NONE) chr7 57608602 57608602 G T het . 3 +intergenic ZNF716(dist=76279),NONE(dist=NONE) chr7 57609544 57609544 A G het . 1 +intergenic ZNF716(dist=94699),NONE(dist=NONE) chr7 57627964 57627964 A - het . 2 +intergenic ZNF716(dist=105639),NONE(dist=NONE) chr7 57638904 57638904 C T het . 3 +intergenic ZNF716(dist=105644),NONE(dist=NONE) chr7 57638909 57638909 T C het . 3 +intergenic ZNF716(dist=105649),NONE(dist=NONE) chr7 57638914 57638914 T C het . 3 +intergenic ZNF716(dist=105659),NONE(dist=NONE) chr7 57638924 57638924 C A het . 3 +intergenic ZNF716(dist=105692),NONE(dist=NONE) chr7 57638957 57638957 C T het . 2 +intergenic ZNF716(dist=128422),NONE(dist=NONE) chr7 57661687 57661687 G A het . 3 +intergenic ZNF716(dist=128440),NONE(dist=NONE) chr7 57661705 57661705 T C het . 3 +intergenic ZNF716(dist=129576),NONE(dist=NONE) chr7 57662841 57662841 T C het . 4 +intergenic ZNF716(dist=129595),NONE(dist=NONE) chr7 57662860 57662860 G A het . 5 +intergenic ZNF716(dist=129635),NONE(dist=NONE) chr7 57662900 57662900 T G het . 4 +intergenic ZNF716(dist=129657),NONE(dist=NONE) chr7 57662922 57662922 C G het . 3 +intergenic ZNF716(dist=129820),NONE(dist=NONE) chr7 57663085 57663085 A C het . 2 +intergenic ZNF716(dist=129850),NONE(dist=NONE) chr7 57663115 57663115 T C het . 2 +intergenic ZNF716(dist=129861),NONE(dist=NONE) chr7 57663126 57663127 CA TG het . 2 +intergenic ZNF716(dist=129880),NONE(dist=NONE) chr7 57663145 57663145 T A het . 2 +intergenic ZNF716(dist=168360),NONE(dist=NONE) chr7 57701625 57701625 G T het . 1 +intergenic ZNF716(dist=168365),NONE(dist=NONE) chr7 57701630 57701630 T G het . 3 +intergenic ZNF716(dist=168371),NONE(dist=NONE) chr7 57701636 57701636 A G het . 3 +intergenic ZNF716(dist=168373),NONE(dist=NONE) chr7 57701638 57701638 A C het . 4 +intergenic ZNF716(dist=168381),NONE(dist=NONE) chr7 57701646 57701646 A G het . 6 +intergenic ZNF716(dist=168401),NONE(dist=NONE) chr7 57701666 57701666 A G het . 8 +intergenic ZNF716(dist=168427),NONE(dist=NONE) chr7 57701692 57701692 A G het . 8 +intergenic ZNF716(dist=176784),NONE(dist=NONE) chr7 57710049 57710049 T C het . 7 +intergenic ZNF716(dist=177145),NONE(dist=NONE) chr7 57710410 57710410 T C het . 12 +intergenic ZNF716(dist=177206),NONE(dist=NONE) chr7 57710471 57710471 A G het . 3 +intergenic ZNF716(dist=235907),NONE(dist=NONE) chr7 57769172 57769172 T C het . 2 +intergenic ZNF716(dist=346697),NONE(dist=NONE) chr7 57879962 57879962 G C het . 9 +intergenic ZNF716(dist=349212),NONE(dist=NONE) chr7 57882477 57882477 G T het . 3 +intergenic ZNF716(dist=349237),NONE(dist=NONE) chr7 57882502 57882503 CC AA het . 2 +intergenic ZNF716(dist=349255),NONE(dist=NONE) chr7 57882520 57882520 T C het . 3 +intergenic ZNF716(dist=349266),NONE(dist=NONE) chr7 57882531 57882531 C G het . 4 +intergenic ZNF716(dist=394884),NONE(dist=NONE) chr7 57928149 57928149 C T het . 2 +intergenic ZNF716(dist=394893),NONE(dist=NONE) chr7 57928158 57928158 G A het . 2 +intergenic ZNF716(dist=451473),NONE(dist=NONE) chr7 57984738 57984738 T C het . 2 +intergenic ZNF716(dist=451508),NONE(dist=NONE) chr7 57984773 57984773 T A het . 2 +intergenic ZNF716(dist=507650),NONE(dist=NONE) chr7 58040915 58040915 G T het . 2 +intergenic ZNF716(dist=507670),NONE(dist=NONE) chr7 58040935 58040935 T C het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=1082254) chr7 61669415 61669416 TT GC het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=1012301) chr7 61739369 61739369 T A het . 3 +intergenic NONE(dist=NONE),ZNF733P(dist=1008857) chr7 61742813 61742813 G C het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=1005643) chr7 61746027 61746027 C G het . 3 +intergenic NONE(dist=NONE),ZNF733P(dist=1005620) chr7 61746050 61746050 T A het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=998961) chr7 61752709 61752709 G A het . 5 +intergenic NONE(dist=NONE),ZNF733P(dist=996625) chr7 61755045 61755045 T C het . 1 +intergenic NONE(dist=NONE),ZNF733P(dist=985928) chr7 61765742 61765742 G T het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=978741) chr7 61772929 61772929 C G het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=966721) chr7 61784949 61784949 T A het . 3 +intergenic NONE(dist=NONE),ZNF733P(dist=966714) chr7 61784956 61784956 C A het . 3 +intergenic NONE(dist=NONE),ZNF733P(dist=951283) chr7 61800387 61800387 G A het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=935925) chr7 61815745 61815745 T G het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=929798) chr7 61821872 61821872 C T het . 8 +intergenic NONE(dist=NONE),ZNF733P(dist=929764) chr7 61821906 61821906 G A het . 9 +intergenic NONE(dist=NONE),ZNF733P(dist=929568) chr7 61822102 61822102 T A het . 3 +intergenic NONE(dist=NONE),ZNF733P(dist=929560) chr7 61822110 61822110 T C het . 3 +intergenic NONE(dist=NONE),ZNF733P(dist=929543) chr7 61822127 61822127 T C het . 3 +intergenic NONE(dist=NONE),ZNF733P(dist=929348) chr7 61822322 61822322 A G het . 8 +intergenic NONE(dist=NONE),ZNF733P(dist=929338) chr7 61822332 61822332 G T het . 9 +intergenic NONE(dist=NONE),ZNF733P(dist=929332) chr7 61822338 61822338 G - het . 7 +intergenic NONE(dist=NONE),ZNF733P(dist=929328) chr7 61822342 61822342 G A het . 7 +intergenic NONE(dist=NONE),ZNF733P(dist=929316) chr7 61822354 61822354 G C het . 6 +intergenic NONE(dist=NONE),ZNF733P(dist=929313) chr7 61822357 61822357 C T het . 6 +intergenic NONE(dist=NONE),ZNF733P(dist=929274) chr7 61822396 61822396 C G het . 5 +intergenic NONE(dist=NONE),ZNF733P(dist=929270) chr7 61822400 61822400 C T het . 3 +intergenic NONE(dist=NONE),ZNF733P(dist=929133) chr7 61822537 61822537 G T het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=927714) chr7 61823956 61823956 C A het . 3 +intergenic NONE(dist=NONE),ZNF733P(dist=926661) chr7 61825008 61825009 TG CA het . 8 +intergenic NONE(dist=NONE),ZNF733P(dist=926591) chr7 61825079 61825079 A G het . 4 +intergenic NONE(dist=NONE),ZNF733P(dist=926520) chr7 61825150 61825150 G A het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=926085) chr7 61825585 61825585 G T het . 4 +intergenic NONE(dist=NONE),ZNF733P(dist=926033) chr7 61825637 61825637 A C het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=906093) chr7 61845577 61845577 G A het . 17 +intergenic NONE(dist=NONE),ZNF733P(dist=905405) chr7 61846265 61846265 T A het . 3 +intergenic NONE(dist=NONE),ZNF733P(dist=905401) chr7 61846268 61846269 GT AA het . 3 +intergenic NONE(dist=NONE),ZNF733P(dist=905369) chr7 61846301 61846301 A T het . 1 +intergenic NONE(dist=NONE),ZNF733P(dist=905364) chr7 61846306 61846306 A T het . 1 +intergenic NONE(dist=NONE),ZNF733P(dist=905348) chr7 61846322 61846322 T A het . 1 +intergenic NONE(dist=NONE),ZNF733P(dist=903845) chr7 61847825 61847825 T A het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=869311) chr7 61882359 61882359 C T het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=862558) chr7 61889112 61889112 C T het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=857692) chr7 61893978 61893978 T C het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=857690) chr7 61893980 61893980 A G het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=857689) chr7 61893981 61893981 - A het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=850937) chr7 61900733 61900733 A G het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=783430) chr7 61968240 61968240 A G het . 5 +intergenic NONE(dist=NONE),ZNF733P(dist=783371) chr7 61968299 61968299 G T het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=782623) chr7 61969047 61969047 G A het . 34 +intergenic NONE(dist=NONE),ZNF733P(dist=782583) chr7 61969087 61969087 A G het . 8 +intergenic NONE(dist=NONE),ZNF733P(dist=782379) chr7 61969291 61969291 T C het . 31 +intergenic NONE(dist=NONE),ZNF733P(dist=782356) chr7 61969314 61969314 C T het . 47 +intergenic NONE(dist=NONE),ZNF733P(dist=782346) chr7 61969324 61969324 G C het . 54 +intergenic NONE(dist=NONE),ZNF733P(dist=782341) chr7 61969329 61969329 G C het . 62 +intergenic NONE(dist=NONE),ZNF733P(dist=782317) chr7 61969353 61969353 C A het . 78 +intergenic NONE(dist=NONE),ZNF733P(dist=782291) chr7 61969379 61969379 G T het . 50 +intergenic NONE(dist=NONE),ZNF733P(dist=782287) chr7 61969383 61969383 T C het . 43 +intergenic NONE(dist=NONE),ZNF733P(dist=782267) chr7 61969403 61969403 C G het . 24 +intergenic NONE(dist=NONE),ZNF733P(dist=781652) chr7 61970018 61970018 A G het . 7 +intergenic NONE(dist=NONE),ZNF733P(dist=781642) chr7 61970028 61970028 T - het . 7 +intergenic NONE(dist=NONE),ZNF733P(dist=781634) chr7 61970035 61970036 CA AC het . 6 +intergenic NONE(dist=NONE),ZNF733P(dist=781608) chr7 61970062 61970062 C A het . 5 +intergenic NONE(dist=NONE),ZNF733P(dist=781606) chr7 61970064 61970064 T C het . 5 +intergenic NONE(dist=NONE),ZNF733P(dist=472342) chr7 62279328 62279328 G A het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=281217) chr7 62470449 62470453 AAAAC - het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=281208) chr7 62470462 62470462 A G het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=281199) chr7 62470470 62470471 CC TG het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=281190) chr7 62470480 62470480 C A het . 2 +intergenic NONE(dist=NONE),ZNF733P(dist=176748) chr7 62574922 62574922 G C het . 6 +intergenic LOC100287834(dist=27945),MIR4283-2(dist=194104) chr7 62887364 62887364 T G het . 4 +intergenic MIR4283-2(dist=124060),ZNF722P(dist=253577) chr7 63205607 63205607 G A het . 2 +intergenic MIR4283-2(dist=124066),ZNF722P(dist=253571) chr7 63205613 63205613 A C het . 2 +intergenic MIR4283-2(dist=128024),ZNF722P(dist=249613) chr7 63209571 63209571 A C het . 4 +intergenic MIR4283-2(dist=144582),ZNF722P(dist=233055) chr7 63226129 63226129 G T het . 2 +intergenic MIR4283-2(dist=145294),ZNF722P(dist=232343) chr7 63226841 63226841 G T het . 2 +ncRNA_intronic ZNF722P chr7 63477728 63477728 - A het . 2 +ncRNA_intronic ZNF722P chr7 63477729 63477729 T C het . 2 +intronic ZNF727 chr7 63529451 63529451 T - het . 2 +intronic ZNF727 chr7 63537639 63537639 T - het . 9 +intronic ZNF735 chr7 63673456 63673456 T - het . 16 +intronic ZNF679 chr7 63715396 63715396 G A het . 2 +exonic ZNF679 chr7 63726343 63726343 T G het . 41 +intergenic ZNF736(dist=20287),YWHAEP1(dist=56772) chr7 63837299 63837299 T C het . 1 +intergenic ZNF736(dist=30937),YWHAEP1(dist=46122) chr7 63847949 63847949 T C het . 2 +intergenic ZNF736(dist=42578),YWHAEP1(dist=34481) chr7 63859590 63859590 A G het . 2 +intronic ZNF680 chr7 63984424 63984426 AGA - het . 6 +ncRNA_exonic LOC641746 chr7 64043696 64043696 - A het . 11 +ncRNA_intronic LOC100128885 chr7 64044673 64044674 AA - het . 18 +upstream ZNF107(dist=721) chr7 64125740 64125740 T - het . 2 +upstream ZNF107(dist=711) chr7 64125750 64125750 T C het . 2 +UTR5 ZNF107(NM_016220:c.-25820G>A,NM_001282360:c.-161G>A,NM_001282359:c.-161G>A,NM_001013746:c.-25820G>A) chr7 64126500 64126500 G A het . 5 +intronic ZNF107 chr7 64135005 64135005 C G het . 2 +intronic ZNF107 chr7 64144268 64144268 G T het . 2 +intronic ZNF107 chr7 64147169 64147169 C T het . 2 +intergenic ZNF107(dist=17433),ZNF138(dist=65373) chr7 64189393 64189393 - T het . 2 +intergenic ZNF107(dist=19000),ZNF138(dist=63806) chr7 64190960 64190960 G A het . 3 +intergenic ZNF107(dist=26152),ZNF138(dist=56654) chr7 64198112 64198112 - T het . 4 +intergenic ZNF107(dist=66737),ZNF138(dist=16069) chr7 64238697 64238697 A G het . 1 +intronic ZNF138 chr7 64275284 64275284 C T het . 21 +intronic ZNF138 chr7 64275548 64275548 A G het . 3 +intronic ZNF138 chr7 64281413 64281413 - TT het . 5 +intronic ZNF138 chr7 64281435 64281435 - T het . 4 +exonic ZNF138 chr7 64291976 64291976 G A het . 29 +exonic ZNF138 chr7 64291991 64291991 T A het . 36 +intergenic ZNF138(dist=13366),ZNF273(dist=56195) chr7 64307425 64307425 T C het . 2 +intergenic ZNF138(dist=17776),ZNF273(dist=51785) chr7 64311835 64311835 T C het . 2 +intergenic ZNF138(dist=62306),ZNF273(dist=7255) chr7 64356365 64356365 A T het . 4 +intergenic ZNF138(dist=62310),ZNF273(dist=7250) chr7 64356369 64356370 AA TT het . 4 +intergenic ZNF138(dist=62331),ZNF273(dist=7230) chr7 64356390 64356390 C A het . 4 +intronic ZNF273 chr7 64364639 64364639 C T het . 2 +intronic ZNF273 chr7 64366661 64366661 T C het . 2 +intronic ZNF273 chr7 64366663 64366663 A T het . 2 +intronic ZNF273 chr7 64383667 64383667 C A het . 22 +intergenic ZNF273(dist=4685),ERV3-1-ZNF117(dist=38190) chr7 64396640 64396640 T C het . 1 +intergenic ZNF273(dist=39384),ERV3-1-ZNF117(dist=3491) chr7 64431339 64431339 G A het . 3 +UTR3 ERV3-1-ZNF117(NM_001348050:c.*2391A>G),ZNF117(NM_015852:c.*2391A>G) chr7 64436106 64436106 T C het . 2 +UTR3 ERV3-1-ZNF117(NM_001348050:c.*1678_*1679insT),ZNF117(NM_015852:c.*1678_*1679insT) chr7 64436818 64436818 - A het . 3 +intronic ERV3-1-ZNF117,ZNF117 chr7 64446519 64446519 G A het . 2 +intronic ERV3-1-ZNF117,ZNF117 chr7 64446535 64446535 A - het . 2 +exonic ERV3-1 chr7 64451796 64451796 C A het . 29 +intergenic ERV3-1-ZNF117(dist=27003),CCT6P3(dist=4605) chr7 64494127 64494127 T C het . 2 +intergenic ERV3-1-ZNF117(dist=28415),CCT6P3(dist=3193) chr7 64495539 64495539 C T het . 2 +upstream CCT6P3(dist=51) chr7 64498681 64498681 C T het . 5 +upstream CCT6P3(dist=17) chr7 64498715 64498715 - GGAGGCGGAG het . 10 +ncRNA_exonic CCT6P3 chr7 64498748 64498748 G A het . 15 +ncRNA_exonic CCT6P3 chr7 64498755 64498755 G C het . 15 +ncRNA_intronic CCT6P3 chr7 64532480 64532480 C A het . 4 +intergenic CCT6P3(dist=1762),INTS4P1(dist=64555) chr7 64536853 64536853 C G het . 2 +intergenic INTS4P1(dist=23898),ZNF92(dist=120214) chr7 64718498 64718498 C T het . 3 +intergenic INTS4P1(dist=27428),ZNF92(dist=116684) chr7 64722028 64722028 A - het . 12 +intergenic INTS4P1(dist=27442),ZNF92(dist=116670) chr7 64722042 64722042 A G het . 12 +intergenic INTS4P1(dist=27446),ZNF92(dist=116666) chr7 64722046 64722046 G C het . 11 +intergenic INTS4P1(dist=27449),ZNF92(dist=116663) chr7 64722049 64722049 G C het . 11 +intergenic INTS4P1(dist=39786),ZNF92(dist=104326) chr7 64734386 64734386 G - het . 3 +intergenic INTS4P1(dist=41988),ZNF92(dist=102124) chr7 64736588 64736588 G A het . 1 +intergenic INTS4P1(dist=47543),ZNF92(dist=96569) chr7 64742143 64742143 - T het . 5 +intergenic INTS4P1(dist=48338),ZNF92(dist=95774) chr7 64742938 64742938 C A het . 2 +intergenic INTS4P1(dist=60913),ZNF92(dist=83199) chr7 64755513 64755513 C - het . 2 +intergenic INTS4P1(dist=60918),ZNF92(dist=83185) chr7 64755518 64755527 TTTTTCTCTT - het . 2 +intergenic INTS4P1(dist=91860),ZNF92(dist=52252) chr7 64786460 64786460 C T het . 1 +intergenic INTS4P1(dist=97685),ZNF92(dist=46427) chr7 64792285 64792285 A - het . 5 +intergenic INTS4P1(dist=97818),ZNF92(dist=46294) chr7 64792418 64792418 G A het . 16 +intronic ZNF92 chr7 64861797 64861797 A T het . 1 +intergenic ZNF92(dist=34239),LOC441242(dist=211634) chr7 64900287 64900290 AAAA - het . 2 +intergenic ZNF92(dist=51061),LOC441242(dist=194815) chr7 64917109 64917109 T C het . 2 +intergenic ZNF92(dist=51078),LOC441242(dist=194798) chr7 64917126 64917126 T C het . 2 +intergenic ZNF92(dist=51093),LOC441242(dist=194783) chr7 64917141 64917141 T C het . 1 +intergenic ZNF92(dist=51724),LOC441242(dist=194152) chr7 64917772 64917772 - G het . 3 +intergenic ZNF92(dist=51725),LOC441242(dist=194151) chr7 64917773 64917773 - AAAAG het . 3 +intergenic ZNF92(dist=55753),LOC441242(dist=190123) chr7 64921801 64921801 - T het . 2 +intergenic ZNF92(dist=96156),LOC441242(dist=149720) chr7 64962204 64962204 T C het . 2 +intergenic ZNF92(dist=103268),LOC441242(dist=142608) chr7 64969316 64969316 C T het . 3 +intergenic ZNF92(dist=103545),LOC441242(dist=142327) chr7 64969593 64969597 TCATT - het . 2 +intergenic ZNF92(dist=104293),LOC441242(dist=141583) chr7 64970341 64970341 G T het . 3 +intergenic ZNF92(dist=108130),LOC441242(dist=137746) chr7 64974178 64974178 T C het . 3 +intergenic ZNF92(dist=108303),LOC441242(dist=137573) chr7 64974351 64974351 A C het . 3 +intergenic ZNF92(dist=108588),LOC441242(dist=137288) chr7 64974636 64974636 A G het . 10 +intergenic ZNF92(dist=171618),LOC441242(dist=74258) chr7 65037666 65037666 - C het . 6 +ncRNA_intronic CCT6P1,LOC441242 chr7 65216308 65216308 C T het . 1 +ncRNA_intronic CCT6P1,LOC441242 chr7 65226569 65226570 TT - het . 18 +ncRNA_intronic CCT6P1,LOC441242 chr7 65226590 65226590 C A het . 17 +intergenic LOC441242(dist=11026),VKORC1L1(dist=91263) chr7 65246823 65246823 T - het . 2 +intergenic LOC441242(dist=16850),VKORC1L1(dist=85439) chr7 65252647 65252647 A T het . 2 +intergenic LOC441242(dist=17275),VKORC1L1(dist=85014) chr7 65253072 65253072 C G het . 9 +intergenic LOC441242(dist=22747),VKORC1L1(dist=79542) chr7 65258544 65258544 G C het . 3 +intergenic LOC441242(dist=25150),VKORC1L1(dist=77139) chr7 65260947 65260947 - TTCTC het . 2 +intergenic LOC441242(dist=25359),VKORC1L1(dist=76930) chr7 65261156 65261156 C G het . 2 +intergenic LOC441242(dist=32139),VKORC1L1(dist=70150) chr7 65267936 65267936 T C het . 2 +intergenic LOC441242(dist=32781),VKORC1L1(dist=69508) chr7 65268578 65268578 A T het . 3 +intergenic LOC441242(dist=32795),VKORC1L1(dist=69494) chr7 65268592 65268592 A T het . 2 +intergenic LOC441242(dist=35988),VKORC1L1(dist=66301) chr7 65271785 65271785 A G het . 2 +intergenic LOC441242(dist=40955),VKORC1L1(dist=61334) chr7 65276752 65276752 G C het . 4 +intergenic LOC441242(dist=40991),VKORC1L1(dist=61298) chr7 65276788 65276788 A - het . 4 +intergenic LOC441242(dist=86555),VKORC1L1(dist=15734) chr7 65322352 65322352 A T het . 3 +intronic GUSB chr7 65426055 65426057 AAA - het . 36 +intronic GUSB chr7 65440344 65440344 C G het . 3 +intronic GUSB chr7 65440370 65440370 A C het . 4 +intronic GUSB chr7 65441318 65441318 - T het . 12 +intergenic GUSB(dist=28430),ASL(dist=65045) chr7 65475731 65475731 G A het . 5 +intergenic GUSB(dist=28433),ASL(dist=65042) chr7 65475734 65475734 C T het . 5 +intergenic GUSB(dist=28436),ASL(dist=65039) chr7 65475737 65475737 A T het . 4 +intergenic GUSB(dist=30104),ASL(dist=63371) chr7 65477405 65477405 G A het . 5 +intergenic GUSB(dist=32271),ASL(dist=61204) chr7 65479572 65479572 T A het . 2 +intergenic GUSB(dist=60296),ASL(dist=33179) chr7 65507597 65507597 A G het . 3 +intergenic GUSB(dist=74656),ASL(dist=18819) chr7 65521957 65521957 A - het . 2 +intergenic GUSB(dist=74667),ASL(dist=18808) chr7 65521968 65521968 A G het . 2 +intergenic GUSB(dist=75860),ASL(dist=17615) chr7 65523161 65523161 T A het . 4 +intergenic GUSB(dist=79347),ASL(dist=14128) chr7 65526648 65526648 C A het . 1 +intergenic GUSB(dist=92414),ASL(dist=1061) chr7 65539715 65539715 - TT het . 2 +intronic ASL chr7 65554694 65554694 C A het . 49 +intronic ASL chr7 65557449 65557449 A - het . 10 +intergenic ASL(dist=16920),CRCP(dist=4556) chr7 65575249 65575249 C G het . 1 +intronic CRCP chr7 65581667 65581667 C T het . 2 +intronic CRCP chr7 65588875 65588875 T - het . 2 +intronic CRCP chr7 65599247 65599250 TTTT - het . 27 +intergenic CRCP(dist=7831),TPST1(dist=42875) chr7 65627384 65627384 - A het . 5 +intergenic CRCP(dist=13955),TPST1(dist=36751) chr7 65633508 65633508 C - het . 3 +intergenic CRCP(dist=15788),TPST1(dist=34918) chr7 65635341 65635341 T C het . 2 +intronic TPST1 chr7 65686280 65686280 T A het . 3 +intronic TPST1 chr7 65700265 65700265 C T het . 3 +intronic TPST1 chr7 65736042 65736042 G T het . 3 +intronic TPST1 chr7 65789454 65789454 G A het . 2 +intronic TPST1 chr7 65814809 65814809 C A het . 2 +intergenic TPST1(dist=12496),LINC00174(dist=3097) chr7 65837934 65837934 A G het . 2 +ncRNA_intronic LINC00174 chr7 65852341 65852341 T C het . 4 +intergenic LINC00174(dist=16979),GS1-124K5.4(dist=76245) chr7 65882374 65882374 C T het . 1 +intergenic LINC00174(dist=20905),GS1-124K5.4(dist=72319) chr7 65886300 65886300 G C het . 4 +intergenic LINC00174(dist=22775),GS1-124K5.4(dist=70449) chr7 65888170 65888170 A - het . 4 +intergenic LINC00174(dist=23593),GS1-124K5.4(dist=69631) chr7 65888988 65888988 T - het . 12 +intergenic LINC00174(dist=30917),GS1-124K5.4(dist=62307) chr7 65896312 65896312 A T het . 1 +intergenic LINC00174(dist=62436),GS1-124K5.4(dist=30787) chr7 65927831 65927832 TT - het . 2 +intergenic LINC00174(dist=74005),GS1-124K5.4(dist=19219) chr7 65939400 65939400 G T het . 37 +intergenic LINC00174(dist=80137),GS1-124K5.4(dist=13087) chr7 65945532 65945532 T A het . 2 +intergenic LINC00174(dist=80166),GS1-124K5.4(dist=13058) chr7 65945561 65945561 T C het . 3 +intergenic LINC00174(dist=82965),GS1-124K5.4(dist=10257) chr7 65948360 65948362 AAA - het . 5 +intergenic LINC00174(dist=82990),GS1-124K5.4(dist=10232) chr7 65948385 65948387 AAA - het . 3 +intergenic LINC00174(dist=83354),GS1-124K5.4(dist=9870) chr7 65948749 65948749 G A het . 3 +intergenic LINC00174(dist=85219),GS1-124K5.4(dist=8005) chr7 65950614 65950614 G A het . 3 +intergenic LINC00174(dist=88804),GS1-124K5.4(dist=4420) chr7 65954199 65954199 A G het . 6 +intergenic GS1-124K5.4(dist=3110),GS1-124K5.11(dist=31721) chr7 65963571 65963571 T - het . 3 +intergenic GS1-124K5.4(dist=6880),GS1-124K5.11(dist=27951) chr7 65967341 65967341 T C het . 3 +intergenic GS1-124K5.4(dist=13188),GS1-124K5.11(dist=21641) chr7 65973649 65973651 TTC - het . 6 +intergenic GS1-124K5.4(dist=13207),GS1-124K5.11(dist=21624) chr7 65973668 65973668 T C het . 6 +intergenic GS1-124K5.4(dist=15954),GS1-124K5.11(dist=18877) chr7 65976415 65976415 C T het . 2 +intergenic GS1-124K5.4(dist=16149),GS1-124K5.11(dist=18682) chr7 65976610 65976610 G A het . 19 +intergenic GS1-124K5.4(dist=16173),GS1-124K5.11(dist=18658) chr7 65976634 65976634 A G het . 15 +intergenic GS1-124K5.4(dist=18058),GS1-124K5.11(dist=16773) chr7 65978519 65978519 T C het . 2 +intergenic GS1-124K5.4(dist=21409),GS1-124K5.11(dist=13422) chr7 65981870 65981870 A T het . 3 +ncRNA_exonic GS1-124K5.11 chr7 65996238 65996238 - A het . 3 +ncRNA_intronic GS1-124K5.11 chr7 66004303 66004303 T C het . 2 +ncRNA_intronic GS1-124K5.11 chr7 66008296 66008296 - T het . 3 +ncRNA_intronic GS1-124K5.11 chr7 66010270 66010270 T - het . 4 +ncRNA_intronic GS1-124K5.11 chr7 66020097 66020097 T - het . 3 +ncRNA_intronic GS1-124K5.11 chr7 66021966 66021966 C G het . 13 +intergenic GS1-124K5.11(dist=13276),KCTD7(dist=23198) chr7 66070670 66070670 T - het . 2 +exonic KCTD7 chr7 66098295 66098295 G A het . 46 +upstream RABGEF1(dist=500) chr7 66146578 66146578 G - het . 4 +intronic RABGEF1 chr7 66157050 66157053 AAAC - het . 2 +intronic RABGEF1 chr7 66158799 66158801 TTT - het . 6 +intronic RABGEF1 chr7 66177257 66177257 G A het . 2 +intronic RABGEF1 chr7 66184443 66184443 G C het . 4 +intronic RABGEF1 chr7 66210007 66210007 A G het . 3 +intronic RABGEF1 chr7 66242840 66242840 A G het . 4 +intronic RABGEF1 chr7 66262309 66262309 G - het . 12 +intronic RABGEF1 chr7 66262309 66262309 G A het . 14 +ncRNA_intronic GTF2IP23 chr7 66337648 66337648 A T het . 2 +intergenic TMEM248(dist=24854),SBDS(dist=4272) chr7 66448392 66448392 T G het . 2 +intergenic TMEM248(dist=24870),SBDS(dist=4256) chr7 66448408 66448408 A - het . 4 +exonic SBDS chr7 66453408 66453408 C A het . 53 +intronic TYW1 chr7 66467844 66467844 T - het . 15 +intronic TYW1 chr7 66489772 66489772 A - het . 3 +intronic TYW1 chr7 66669531 66669533 TCT - het . 9 +upstream PMS2P4,STAG3L4(dist=46) chr7 66767579 66767579 G A het . 7 +upstream PMS2P4,STAG3L4(dist=15) chr7 66767610 66767610 - G het . 3 +upstream PMS2P4,STAG3L4(dist=1) chr7 66767624 66767624 C T het . 2 +ncRNA_exonic STAG3L4 chr7 66767637 66767637 A C het . 2 +ncRNA_exonic STAG3L4 chr7 66767803 66767803 C A het . 14 +ncRNA_intronic STAG3L4 chr7 66770959 66770959 T - het . 30 +intergenic LINC01372(dist=18965),LOC102723427(dist=661263) chr7 66823977 66823977 C T het . 2 +intergenic LINC01372(dist=30646),LOC102723427(dist=649582) chr7 66835658 66835658 A G het . 2 +intergenic LINC01372(dist=31507),LOC102723427(dist=648721) chr7 66836519 66836519 T A het . 2 +intergenic LINC01372(dist=36561),LOC102723427(dist=643667) chr7 66841573 66841573 A G het . 3 +intergenic LINC01372(dist=36571),LOC102723427(dist=643657) chr7 66841583 66841583 A G het . 3 +intergenic LINC01372(dist=43190),LOC102723427(dist=637038) chr7 66848202 66848202 G A het . 4 +intergenic LINC01372(dist=43228),LOC102723427(dist=637000) chr7 66848240 66848240 G A het . 6 +intergenic LINC01372(dist=81647),LOC102723427(dist=598581) chr7 66886659 66886659 - AAC het . 2 +intergenic LINC01372(dist=132799),LOC102723427(dist=547429) chr7 66937811 66937811 A G het . 2 +intergenic LINC01372(dist=133089),LOC102723427(dist=547139) chr7 66938101 66938101 T A het . 3 +intergenic LINC01372(dist=144062),LOC102723427(dist=536166) chr7 66949074 66949074 - AAAC het . 11 +intergenic LINC01372(dist=144132),LOC102723427(dist=536096) chr7 66949144 66949144 T C het . 9 +intergenic LINC01372(dist=235033),LOC102723427(dist=445195) chr7 67040045 67040045 C A het . 1 +intergenic LINC01372(dist=239790),LOC102723427(dist=440438) chr7 67044802 67044802 G A het . 2 +intergenic LINC01372(dist=257689),LOC102723427(dist=422539) chr7 67062701 67062701 G T het . 3 +intergenic LINC01372(dist=274495),LOC102723427(dist=405733) chr7 67079507 67079507 T - het . 2 +intergenic LINC01372(dist=302162),LOC102723427(dist=378066) chr7 67107174 67107174 A G het . 2 +intergenic LINC01372(dist=302712),LOC102723427(dist=377516) chr7 67107724 67107724 T C het . 2 +intergenic LINC01372(dist=306144),LOC102723427(dist=374084) chr7 67111156 67111156 - T het . 5 +intergenic LINC01372(dist=306174),LOC102723427(dist=374054) chr7 67111186 67111186 T C het . 5 +intergenic LINC01372(dist=309297),LOC102723427(dist=370931) chr7 67114309 67114309 A G het . 2 +intergenic LINC01372(dist=333802),LOC102723427(dist=346426) chr7 67138814 67138814 G A het . 2 +intergenic LINC01372(dist=336199),LOC102723427(dist=344029) chr7 67141211 67141211 T C het . 3 +intergenic LINC01372(dist=374525),LOC102723427(dist=305703) chr7 67179537 67179537 T A het . 3 +intergenic LINC01372(dist=427619),LOC102723427(dist=252609) chr7 67232631 67232631 G A het . 1 +intergenic LINC01372(dist=435906),LOC102723427(dist=244322) chr7 67240918 67240918 G A het . 1 +intergenic LINC01372(dist=447182),LOC102723427(dist=233046) chr7 67252194 67252194 G A het . 4 +intergenic LINC01372(dist=456514),LOC102723427(dist=223714) chr7 67261526 67261526 G A het . 1 +intergenic LINC01372(dist=527119),LOC102723427(dist=153109) chr7 67332131 67332131 T C het . 2 +intergenic LINC01372(dist=535214),LOC102723427(dist=145014) chr7 67340226 67340226 C T het . 2 +intergenic LINC01372(dist=537543),LOC102723427(dist=142685) chr7 67342555 67342555 C T het . 2 +intergenic LINC01372(dist=551265),LOC102723427(dist=128963) chr7 67356277 67356277 T - het . 3 +intergenic LINC01372(dist=560293),LOC102723427(dist=119935) chr7 67365305 67365305 T G het . 4 +intergenic LINC01372(dist=562976),LOC102723427(dist=117252) chr7 67367988 67367988 A G het . 1 +intergenic LINC01372(dist=564798),LOC102723427(dist=115430) chr7 67369810 67369810 G A het . 2 +intergenic LINC01372(dist=564802),LOC102723427(dist=115426) chr7 67369814 67369814 T G het . 1 +intergenic LINC01372(dist=567924),LOC102723427(dist=112304) chr7 67372936 67372936 A T het . 7 +intergenic LINC01372(dist=567940),LOC102723427(dist=112288) chr7 67372952 67372952 C A het . 6 +intergenic LINC01372(dist=572547),LOC102723427(dist=107681) chr7 67377559 67377559 C A het . 2 +intergenic LINC01372(dist=580254),LOC102723427(dist=99974) chr7 67385266 67385266 A - het . 2 +intergenic LINC01372(dist=601791),LOC102723427(dist=78437) chr7 67406803 67406803 G C het . 2 +intergenic LINC01372(dist=602031),LOC102723427(dist=78197) chr7 67407043 67407043 A - het . 3 +intergenic LINC01372(dist=602051),LOC102723427(dist=78177) chr7 67407063 67407063 G A het . 4 +intergenic LINC01372(dist=615308),LOC102723427(dist=64920) chr7 67420320 67420320 G T het . 2 +intergenic LINC01372(dist=621939),LOC102723427(dist=58289) chr7 67426951 67426951 A G het . 4 +intergenic LINC01372(dist=641317),LOC102723427(dist=38911) chr7 67446329 67446329 G T het . 1 +intergenic LINC01372(dist=657499),LOC102723427(dist=22729) chr7 67462511 67462511 - TTCT het . 6 +intergenic LINC01372(dist=670189),LOC102723427(dist=10039) chr7 67475201 67475201 A G het . 3 +intergenic LOC102723427(dist=2570),LOC100507468(dist=1559543) chr7 67500247 67500247 G T het . 2 +intergenic LOC102723427(dist=14036),LOC100507468(dist=1548077) chr7 67511713 67511713 T A het . 2 +intergenic LOC102723427(dist=14057),LOC100507468(dist=1548056) chr7 67511734 67511734 C A het . 1 +intergenic LOC102723427(dist=18782),LOC100507468(dist=1543331) chr7 67516459 67516459 T - het . 3 +intergenic LOC102723427(dist=56761),LOC100507468(dist=1505352) chr7 67554438 67554438 G A het . 3 +intergenic LOC102723427(dist=70979),LOC100507468(dist=1491134) chr7 67568656 67568656 - AGAA het . 2 +intergenic LOC102723427(dist=87772),LOC100507468(dist=1474341) chr7 67585449 67585449 A G het . 2 +intergenic LOC102723427(dist=108068),LOC100507468(dist=1454045) chr7 67605745 67605745 C T het . 1 +intergenic LOC102723427(dist=121018),LOC100507468(dist=1441095) chr7 67618695 67618695 - A het . 2 +intergenic LOC102723427(dist=147652),LOC100507468(dist=1414461) chr7 67645329 67645329 G A het . 2 +intergenic LOC102723427(dist=154330),LOC100507468(dist=1407783) chr7 67652007 67652007 A G het . 2 +intergenic LOC102723427(dist=182153),LOC100507468(dist=1379960) chr7 67679830 67679830 T C het . 2 +intergenic LOC102723427(dist=183768),LOC100507468(dist=1378345) chr7 67681445 67681445 A - het . 2 +intergenic LOC102723427(dist=192609),LOC100507468(dist=1369504) chr7 67690286 67690286 A G het . 2 +intergenic LOC102723427(dist=199426),LOC100507468(dist=1362687) chr7 67697103 67697103 A C het . 3 +intergenic LOC102723427(dist=199471),LOC100507468(dist=1362642) chr7 67697148 67697148 C - het . 2 +intergenic LOC102723427(dist=202561),LOC100507468(dist=1359551) chr7 67700238 67700239 AA - het . 3 +intergenic LOC102723427(dist=206494),LOC100507468(dist=1355619) chr7 67704171 67704171 C T het . 3 +intergenic LOC102723427(dist=222737),LOC100507468(dist=1339376) chr7 67720414 67720414 T G het . 2 +intergenic LOC102723427(dist=247150),LOC100507468(dist=1314963) chr7 67744827 67744827 A C het . 2 +intergenic LOC102723427(dist=252046),LOC100507468(dist=1310067) chr7 67749723 67749723 A G het . 3 +intergenic LOC102723427(dist=252051),LOC100507468(dist=1310062) chr7 67749728 67749728 C T het . 3 +intergenic LOC102723427(dist=366554),LOC100507468(dist=1195556) chr7 67864231 67864234 TTTC - het . 2 +intergenic LOC102723427(dist=416763),LOC100507468(dist=1145350) chr7 67914440 67914440 G T het . 2 +intergenic LOC102723427(dist=720804),LOC100507468(dist=841309) chr7 68218481 68218481 C T het . 1 +intergenic LOC102723427(dist=861506),LOC100507468(dist=700607) chr7 68359183 68359183 T - het . 2 +intergenic LOC102723427(dist=1237545),LOC100507468(dist=324568) chr7 68735222 68735222 C T het . 2 +intergenic LOC102723427(dist=1254970),LOC100507468(dist=307140) chr7 68752647 68752650 TCCT - het . 2 +exonic AUTS2 chr7 70255484 70255484 C T het . 7 +intergenic AUTS2(dist=197400),GALNT17(dist=142069) chr7 70455454 70455454 C G het . 1 +intergenic AUTS2(dist=197459),GALNT17(dist=142010) chr7 70455513 70455513 T C het . 3 +intergenic AUTS2(dist=199203),GALNT17(dist=140266) chr7 70457257 70457257 C T het . 1 +intergenic AUTS2(dist=220604),GALNT17(dist=118865) chr7 70478658 70478658 - AAAG het . 2 +intergenic AUTS2(dist=229051),GALNT17(dist=110415) chr7 70487105 70487108 AAGA - het . 2 +intronic GALNT17 chr7 70846619 70846619 G T het . 2 +intronic GALNT17 chr7 70970026 70970026 G A het . 1 +intronic GALNT17 chr7 71058135 71058137 AAT - het . 2 +intronic GALNT17 chr7 71058200 71058200 T G het . 3 +intronic GALNT17 chr7 71065383 71065383 - G het . 3 +intronic GALNT17 chr7 71065748 71065748 - TT het . 3 +intronic GALNT17 chr7 71082602 71082605 TTTG - het . 7 +intronic GALNT17 chr7 71154446 71154446 G A het . 1 +intergenic GALNT17(dist=1171),CALN1(dist=64719) chr7 71179757 71179757 C T het . 1 +intergenic GALNT17(dist=3882),CALN1(dist=62008) chr7 71182468 71182468 C T het . 1 +intergenic GALNT17(dist=7803),CALN1(dist=58087) chr7 71186389 71186389 C T het . 3 +intergenic GALNT17(dist=12226),CALN1(dist=53664) chr7 71190812 71190812 C T het . 1 +intergenic GALNT17(dist=38055),CALN1(dist=27835) chr7 71216641 71216641 A T het . 2 +intergenic GALNT17(dist=38057),CALN1(dist=27833) chr7 71216643 71216643 G A het . 2 +intergenic GALNT17(dist=39719),CALN1(dist=26168) chr7 71218305 71218308 TTCC - het . 7 +intergenic GALNT17(dist=53934),CALN1(dist=11956) chr7 71232520 71232520 A G het . 2 +UTR3 CALN1(NM_031468:c.*1005A>T,NM_001017440:c.*1005A>T,NM_001363460:c.*1005A>T) chr7 71251755 71251755 T A het . 2 +UTR3 CALN1(NM_031468:c.*989G>T,NM_001017440:c.*989G>T,NM_001363460:c.*989G>T) chr7 71251771 71251771 C A het . 1 +intronic CALN1 chr7 71255106 71255112 AGAAGAA - het . 7 +intronic CALN1 chr7 71255142 71255147 AAAGAA - het . 6 +intronic CALN1 chr7 71255458 71255458 C T het . 5 +intronic CALN1 chr7 71287263 71287263 C T het . 2 +intronic CALN1 chr7 71335075 71335075 G A het . 2 +intronic CALN1 chr7 71395521 71395521 A G het . 2 +intronic CALN1 chr7 71482050 71482050 G A het . 5 +intronic CALN1 chr7 71487402 71487402 G A het . 2 +intronic CALN1 chr7 71571436 71571436 G C het . 8 +intronic CALN1 chr7 71615831 71615831 T A het . 4 +intronic CALN1 chr7 71644101 71644101 G T het . 3 +intronic CALN1 chr7 71656582 71656582 G A het . 5 +intronic CALN1 chr7 71666169 71666169 C A het . 2 +intronic CALN1 chr7 71674027 71674027 - TCTT het . 3 +intronic CALN1 chr7 71687219 71687219 A - het . 6 +intronic CALN1 chr7 71729482 71729482 T - het . 2 +intronic CALN1 chr7 71731144 71731144 C A het . 2 +intronic CALN1 chr7 71755912 71755913 TT - het . 2 +intronic CALN1 chr7 71781148 71781148 - A het . 2 +intronic CALN1 chr7 71810398 71810398 - AGAA het . 4 +intronic CALN1 chr7 71823802 71823802 C T het . 3 +intronic CALN1 chr7 71837301 71837301 A G het . 2 +intronic CALN1 chr7 71847683 71847683 C A het . 3 +intronic CALN1 chr7 71848823 71848823 A G het . 2 +intergenic CALN1(dist=19723),TYW1B(dist=107641) chr7 71931851 71931851 - AAAG het . 1 +intergenic CALN1(dist=27970),TYW1B(dist=99394) chr7 71940098 71940098 A G het . 2 +intergenic CALN1(dist=67254),TYW1B(dist=60110) chr7 71979382 71979382 T A het . 2 +intergenic CALN1(dist=67907),TYW1B(dist=59457) chr7 71980035 71980035 T - het . 3 +intergenic CALN1(dist=72773),TYW1B(dist=54580) chr7 71984901 71984912 TTGTTGTTGTTG - het . 3 +intergenic CALN1(dist=93775),TYW1B(dist=33589) chr7 72005903 72005903 A C het . 2 +intergenic CALN1(dist=94099),TYW1B(dist=33265) chr7 72006227 72006227 T C het . 3 +intergenic CALN1(dist=98134),TYW1B(dist=29223) chr7 72010262 72010269 TTTATTTA - het . 3 +intronic TYW1B chr7 72051724 72051724 - AAT het . 2 +intronic TYW1B chr7 72213159 72213159 A G het . 2 +ncRNA_intronic SBDSP1 chr7 72301118 72301118 G - het . 13 +ncRNA_intronic SBDSP1 chr7 72307115 72307115 G T het . 30 +upstream SPDYE7P(dist=170) chr7 72339826 72339826 G - het . 5 +upstream SPDYE7P(dist=170) chr7 72339826 72339826 G T het . 4 +intronic POM121 chr7 72416333 72416333 C G het . 3 +exonic TRIM50 chr7 72738762 72738763 CA TG het . 6 +intronic FKBP6 chr7 72742942 72742942 G C het . 2 +intronic FKBP6 chr7 72743983 72743983 C A het . 4 +intronic FKBP6 chr7 72747285 72747285 C - het . 2 +intronic FKBP6 chr7 72755520 72755520 T C het . 2 +intronic FKBP6 chr7 72772011 72772011 G A het . 2 +intergenic FKBP6(dist=15271),FZD9(dist=60192) chr7 72787917 72787917 T C het . 7 +intergenic FKBP6(dist=24656),FZD9(dist=50807) chr7 72797302 72797302 G T het . 1 +intergenic FKBP6(dist=62422),FZD9(dist=13041) chr7 72835068 72835068 A - het . 4 +exonic BAZ1B chr7 72873969 72873969 T C het . 48 +intronic BAZ1B chr7 72877570 72877570 T - het . 5 +intronic BAZ1B chr7 72879899 72879899 A - het . 9 +intronic BCL7B chr7 72966423 72966423 A - het . 10 +intronic BCL7B chr7 72971783 72971783 A C het . 9 +intronic TBL2 chr7 72988706 72988706 C A het . 30 +intronic MLXIPL chr7 73010677 73010677 T G het . 36 +intronic MLXIPL chr7 73013853 73013853 C A het . 11 +intergenic MLXIPL(dist=33594),VPS37D(dist=9710) chr7 73072464 73072464 T C het . 2 +intergenic MLXIPL(dist=33601),VPS37D(dist=9703) chr7 73072471 73072471 G C het . 2 +intergenic MLXIPL(dist=37333),VPS37D(dist=5971) chr7 73076203 73076203 G A het . 2 +upstream VPS37D(dist=6) chr7 73082168 73082168 T G het . 3 +intronic STX1A chr7 73118398 73118398 T C het . 3 +intronic STX1A chr7 73122266 73122266 A - het . 4 +intergenic STX1A(dist=5707),ABHD11-AS1(dist=9675) chr7 73139724 73139724 A - het . 2 +intergenic STX1A(dist=11595),ABHD11-AS1(dist=3787) chr7 73145612 73145612 T A het . 3 +intergenic CLDN3(dist=58377),CLDN4(dist=2216) chr7 73242977 73242977 T C het . 2 +UTR3 CLDN4(NM_001305:c.*300A>G) chr7 73246461 73246461 A G het . 2 +UTR3 CLDN4(NM_001305:c.*335C>T) chr7 73246496 73246496 C T het . 3 +downstream METTL27(dist=431) chr7 73248490 73248490 A - het . 3 +downstream METTL27(dist=349) chr7 73248572 73248572 C T het . 2 +exonic METTL27 chr7 73249299 73249299 G C het . 15 +intergenic TMEM270(dist=60958),ELN(dist=100930) chr7 73341181 73341189 TTTTGTTTT - het . 2 +intergenic TMEM270(dist=131948),ELN(dist=29948) chr7 73412171 73412171 T A het . 4 +intronic ELN chr7 73442768 73442768 C A het . 2 +intronic ELN chr7 73458303 73458303 C A het . 31 +intronic ELN chr7 73470495 73470495 C A het . 17 +intronic ELN chr7 73474634 73474634 C A het . 29 +exonic ELN chr7 73477539 73477539 C A het . 33 +exonic ELN chr7 73477649 73477651 CCG - het . 51 +intronic LIMK1 chr7 73524358 73524358 G A het . 3 +downstream LIMK1(dist=512) chr7 73537367 73537367 A - het . 2 +intergenic LIMK1(dist=2978),EIF4H(dist=48873) chr7 73539833 73539833 T G het . 1 +intergenic LIMK1(dist=19791),EIF4H(dist=32060) chr7 73556646 73556646 T C het . 2 +intergenic LIMK1(dist=27201),EIF4H(dist=24650) chr7 73564056 73564056 A G het . 2 +intergenic LIMK1(dist=27209),EIF4H(dist=24642) chr7 73564064 73564064 G A het . 2 +intergenic LIMK1(dist=44398),EIF4H(dist=7453) chr7 73581253 73581253 A - het . 3 +intergenic LIMK1(dist=49062),EIF4H(dist=2789) chr7 73585917 73585917 G T het . 2 +intronic EIF4H chr7 73599092 73599092 A G het . 2 +intronic RFC2 chr7 73650016 73650016 C A het . 27 +intronic RFC2 chr7 73661739 73661739 A G het . 2 +intronic RFC2 chr7 73664207 73664207 G A het . 28 +intronic RFC2 chr7 73664227 73664227 G T het . 27 +upstream RFC2(dist=648) chr7 73669436 73669436 G A het . 2 +intronic CLIP2 chr7 73706741 73706741 G T het . 3 +intronic CLIP2 chr7 73715704 73715704 - TTA het . 3 +intronic CLIP2 chr7 73730219 73730219 A T het . 1 +intronic CLIP2 chr7 73734155 73734156 AG - het . 2 +intronic CLIP2 chr7 73745572 73745572 T C het . 2 +intronic CLIP2 chr7 73745876 73745876 - TTTC het . 2 +intronic CLIP2 chr7 73749832 73749832 - ATTT het . 2 +intronic CLIP2 chr7 73755949 73755949 G A het . 2 +intronic CLIP2 chr7 73756717 73756717 A - het . 5 +intronic CLIP2 chr7 73779984 73779984 T - het . 3 +intronic CLIP2 chr7 73796589 73796589 T - het . 2 +exonic CLIP2 chr7 73814748 73814749 CG AC het . 18 +exonic CLIP2 chr7 73814749 73814749 G C het . 18 +intergenic CLIP2(dist=3631),GTF2IRD1(dist=44216) chr7 73823904 73823904 A - het . 3 +intergenic CLIP2(dist=12836),GTF2IRD1(dist=35008) chr7 73833109 73833112 ACAC - het . 2 +intergenic CLIP2(dist=22804),GTF2IRD1(dist=25043) chr7 73843077 73843077 G A het . 2 +intergenic CLIP2(dist=36537),GTF2IRD1(dist=11310) chr7 73856810 73856810 - C het . 3 +intergenic CLIP2(dist=36538),GTF2IRD1(dist=11309) chr7 73856811 73856811 - AAC het . 3 +intergenic CLIP2(dist=37610),GTF2IRD1(dist=10234) chr7 73857883 73857886 AAAG - het . 2 +intergenic CLIP2(dist=43354),GTF2IRD1(dist=4493) chr7 73863627 73863627 - CTCT het . 2 +upstream GTF2IRD1(dist=461) chr7 73867659 73867659 G A het . 2 +intronic GTF2IRD1 chr7 73888282 73888282 A G het . 2 +intronic GTF2IRD1 chr7 73888409 73888412 AAAC - het . 4 +exonic GTF2IRD1 chr7 73933853 73933853 A C het . 11 +exonic GTF2IRD1 chr7 73933861 73933861 A C het . 12 +exonic GTF2IRD1 chr7 73933871 73933871 A C het . 13 +intronic GTF2IRD1 chr7 73982984 73982984 G A het . 1 +intronic GTF2IRD1 chr7 73983003 73983003 A G het . 2 +intergenic GTF2IRD1(dist=40452),GTF2I(dist=14619) chr7 74057372 74057372 A - het . 2 +intronic GTF2I chr7 74085035 74085035 C A het . 3 +intronic GTF2I chr7 74089190 74089190 A T het . 2 +intronic GTF2I chr7 74099190 74099190 G C het . 3 +ncRNA_intronic LOC101926943 chr7 74105220 74105222 TGT - het . 8 +ncRNA_intronic LOC101926943 chr7 74105541 74105543 TTT - het . 20 +ncRNA_intronic LOC101926943 chr7 74112275 74112275 - TTTT het . 3 +ncRNA_intronic LOC101926943 chr7 74129040 74129040 T - het . 20 +intronic GTF2I chr7 74149988 74149988 G T het . 3 +intergenic NCF1(dist=5045),GTF2IRD2(dist=1718) chr7 74208765 74208765 A C het . 1 +ncRNA_exonic PMS2P3 chr7 75141645 75141645 A G het . 18 +ncRNA_intronic PMS2P3 chr7 75155144 75155144 A - het . 14 +intronic HIP1 chr7 75186647 75186647 C A het . 4 +intronic HIP1 chr7 75186655 75186655 C A het . 4 +intronic HIP1 chr7 75186660 75186660 A C het . 4 +exonic HIP1 chr7 75221774 75221774 G A het . 15 +intronic HIP1 chr7 75288020 75288020 G T het . 6 +intronic HIP1 chr7 75294865 75294865 T - het . 5 +intronic HIP1 chr7 75353268 75353273 AGAGAG - het . 1 +exonic CCL26 chr7 75401263 75401263 C T het . 32 +intergenic CCL26(dist=7444),CCL24(dist=14606) chr7 75426508 75426508 - AAAA het . 2 +intergenic CCL26(dist=12789),CCL24(dist=9261) chr7 75431853 75431853 A G het . 3 +intergenic CCL26(dist=12813),CCL24(dist=9237) chr7 75431877 75431877 C T het . 4 +intergenic CCL26(dist=18973),CCL24(dist=3077) chr7 75438037 75438037 G A het . 2 +intergenic CCL26(dist=19020),CCL24(dist=3030) chr7 75438084 75438084 A T het . 2 +downstream CCL24(dist=652) chr7 75440462 75440462 C T het . 3 +downstream CCL24(dist=649) chr7 75440465 75440465 - A het . 3 +intergenic CCL24(dist=17538),RHBDD2(dist=47739) chr7 75460571 75460571 G A het . 2 +intergenic CCL24(dist=22291),RHBDD2(dist=42975) chr7 75465324 75465335 GGAGGCACCCGG - het . 6 +intergenic CCL24(dist=57744),RHBDD2(dist=7533) chr7 75500777 75500777 G A het . 3 +intronic RHBDD2 chr7 75513216 75513216 T A het . 11 +intronic POR chr7 75546892 75546892 G A het . 2 +intronic POR chr7 75562343 75562343 A - het . 3 +intronic POR chr7 75610763 75610763 G A het . 2 +intronic POR chr7 75612770 75612770 C G het . 12 +intronic POR chr7 75612783 75612783 G A het . 11 +intronic TMEM120A chr7 75621661 75621661 G C het . 4 +intronic TMEM120A chr7 75623700 75623700 A C het . 4 +intronic STYXL1 chr7 75651313 75651313 - A het . 4 +intronic STYXL1 chr7 75653945 75653958 AACAAAACAAAAAA - het . 2 +intronic STYXL1 chr7 75670443 75670443 C A het . 3 +intergenic MDH2(dist=9808),GTF2IP7(dist=14746) chr7 75706635 75706635 A - het . 2 +intergenic MDH2(dist=10720),GTF2IP7(dist=13831) chr7 75707547 75707550 AGAA - het . 2 +intergenic GTF2IP7(dist=50633),SRRM3(dist=42498) chr7 75788713 75788713 A T het . 3 +intergenic GTF2IP7(dist=66593),SRRM3(dist=26538) chr7 75804673 75804673 A - het . 4 +intergenic GTF2IP7(dist=82411),SRRM3(dist=10720) chr7 75820491 75820491 - GAT het . 3 +intergenic GTF2IP7(dist=84796),SRRM3(dist=8335) chr7 75822876 75822876 C G het . 1 +intronic SRRM3 chr7 75864646 75864646 T G het . 5 +intergenic YWHAG(dist=2455),SSC4D(dist=27849) chr7 75990797 75990797 T - het . 17 +intergenic YWHAG(dist=11015),SSC4D(dist=19289) chr7 75999357 75999357 T C het . 2 +intronic SSC4D chr7 76023088 76023088 - G het . 6 +intronic SSC4D chr7 76023131 76023131 - G het . 9 +UTR3 DTX2(NM_020892:c.*11C>G,NM_001102595:c.*11C>G,NM_001102594:c.*11C>G,NM_001102596:c.*11C>G) chr7 76134929 76134929 C G het . 3 +ncRNA_intronic DTX2P1-UPK3BP1-PMS2P11 chr7 76638122 76638125 TTTT - het . 3 +ncRNA_intronic DTX2P1-UPK3BP1-PMS2P11 chr7 76638137 76638137 C T het . 4 +ncRNA_intronic DTX2P1-UPK3BP1-PMS2P11 chr7 76638150 76638155 TTTCTT - het . 2 +intronic CCDC146 chr7 76883685 76883686 TG CA het . 15 +intronic CCDC146 chr7 76883717 76883717 C A het . 22 +intergenic CCDC146(dist=3490),GSAP(dist=12057) chr7 76928011 76928011 A C het . 3 +intergenic CCDC146(dist=13218),GSAP(dist=2329) chr7 76937739 76937739 - T het . 2 +intronic GSAP chr7 76949920 76949920 A G het . 8 +intronic GSAP chr7 76957826 76957826 A T het . 10 +splicing GSAP(NM_001350898:exon8:c.520-1G>T,NM_001350896:exon9:c.577-1G>T,NM_001350901:exon7:UTR5,NM_001350897:exon9:c.577-1G>T,NM_017439:exon9:c.577-1G>T,NM_001350899:exon9:c.577-1G>T,NM_001350900:exon7:UTR5) chr7 77006708 77006708 C A het . 8 +intronic GSAP chr7 77006717 77006718 CA - het . 8 +intergenic LOC101927243(dist=34273),PTPN12(dist=77740) chr7 77089033 77089033 T - het . 3 +upstream PTPN12(dist=221) chr7 77166552 77166552 T G het . 1 +upstream PTPN12(dist=218) chr7 77166554 77166555 TC GG het . 1 +intronic PTPN12 chr7 77204077 77204077 C G het . 2 +intronic PTPN12 chr7 77204085 77204085 C T het . 2 +intronic PTPN12 chr7 77214829 77214829 C A het . 15 +intronic PTPN12 chr7 77265325 77265325 C T het . 4 +intronic RSBN1L chr7 77397907 77397909 TAT - het . 6 +intronic PHTF2 chr7 77456742 77456742 G A het . 2 +intronic PHTF2 chr7 77456750 77456750 T C het . 3 +intronic PHTF2 chr7 77570001 77570001 C A het . 10 +intronic PHTF2 chr7 77576442 77576442 - AACAACAAC het . 2 +intronic PHTF2 chr7 77583954 77583954 T G het . 6 +intronic MAGI2 chr7 77764253 77764253 G A het . 2 +intronic MAGI2 chr7 77797476 77797476 T - het . 8 +intronic MAGI2 chr7 78017592 78017592 - ATC het . 8 +intronic MAGI2 chr7 78019032 78019032 T - het . 2 +intronic MAGI2 chr7 78390300 78390300 T C het . 1 +intronic MAGI2 chr7 78402641 78402641 C G het . 1 +intronic MAGI2 chr7 78423682 78423682 G C het . 2 +intronic MAGI2 chr7 78424297 78424297 C T het . 2 +intronic MAGI2 chr7 78654971 78654971 C - het . 2 +intronic MAGI2 chr7 78931402 78931402 G A het . 1 +intergenic MAGI2-AS3(dist=160296),GNAI1(dist=503320) chr7 79260820 79260820 T C het . 2 +intergenic MAGI2-AS3(dist=188797),GNAI1(dist=474819) chr7 79289321 79289321 T A het . 1 +intergenic GNAI1(dist=8683),LOC101927269(dist=143425) chr7 79857408 79857408 A C het . 1 +intronic CD36 chr7 80301423 80301423 T G het . 16 +intronic SEMA3C chr7 80456709 80456709 T - het . 8 +intronic SEMA3C chr7 80456716 80456716 T G het . 9 +intergenic SEMA3C(dist=21682),LOC105369146(dist=571686) chr7 80573377 80573377 - A het . 2 +intergenic SEMA3C(dist=110582),LOC105369146(dist=482786) chr7 80662277 80662277 G T het . 2 +intergenic SEMA3C(dist=110598),LOC105369146(dist=482770) chr7 80662293 80662293 T C het . 2 +intergenic SEMA3C(dist=232998),LOC105369146(dist=360370) chr7 80784693 80784693 G A het . 2 +intergenic SEMA3C(dist=238575),LOC105369146(dist=354793) chr7 80790270 80790270 A T het . 2 +intergenic SEMA3C(dist=240628),LOC105369146(dist=352740) chr7 80792323 80792323 A G het . 1 +intergenic LOC100128317(dist=5122),HGF(dist=2480) chr7 81325844 81325844 - A het . 1 +intergenic LOC100128317(dist=5140),HGF(dist=2462) chr7 81325862 81325862 A G het . 1 +intronic HGF chr7 81339304 81339304 A C het . 2 +intronic HGF chr7 81359117 81359117 A - het . 17 +UTR5 HGF(NM_001010932:c.-69G>T,NM_000601:c.-69G>T,NM_001010933:c.-69G>T,NM_001010931:c.-69G>T,NM_001010934:c.-69G>T) chr7 81399356 81399356 C A het . 11 +intergenic HGF(dist=90555),CACNA2D1(dist=85691) chr7 81490069 81490069 - TGTT het . 9 +intronic CACNA2D1 chr7 81591827 81591827 A - het . 23 +intronic CACNA2D1 chr7 81601222 81601222 A C het . 15 +intronic CACNA2D1 chr7 81601231 81601231 C G het . 12 +intronic CACNA2D1 chr7 81603946 81603946 T - het . 13 +intronic CACNA2D1 chr7 81603967 81603967 A - het . 16 +intronic CACNA2D1 chr7 81612687 81612687 A - het . 24 +intronic CACNA2D1 chr7 81634822 81634822 G - het . 24 +intronic CACNA2D1 chr7 81634823 81634824 AA - het . 17 +intronic CACNA2D1 chr7 81634823 81634823 A C het . 23 +ncRNA_intronic LOC101927356 chr7 81641571 81641571 A - het . 20 +intronic CACNA2D1 chr7 81695843 81695843 A - het . 18 +intronic CACNA2D1 chr7 81695873 81695873 C A het . 20 +intronic CACNA2D1 chr7 81765997 81765997 A - het . 21 +intergenic CACNA2D1(dist=77191),PCLO(dist=233008) chr7 82150313 82150313 T C het . 1 +intronic PCLO chr7 82397290 82397290 A G het . 2 +intronic PCLO chr7 82397302 82397302 G A het . 2 +intronic PCLO chr7 82420537 82420537 T - het . 2 +intronic PCLO chr7 82475873 82475873 T A het . 25 +exonic PCLO chr7 82544242 82544242 C A het . 25 +exonic PCLO chr7 82581488 82581488 - TCA het . 21 +exonic PCLO chr7 82581724 82581724 C T het . 14 +exonic PCLO chr7 82584774 82584774 G A het . 20 +intronic PCLO chr7 82750476 82750476 T - het . 2 +intergenic PCLO(dist=2957),SEMA3E(dist=198068) chr7 82795154 82795154 G C het . 2 +intergenic PCLO(dist=30863),SEMA3E(dist=170162) chr7 82823060 82823060 C A het . 2 +intronic SEMA3E chr7 82997525 82997525 C G het . 8 +intronic SEMA3E chr7 83022216 83022216 T C het . 8 +intronic SEMA3E chr7 83036322 83036322 A C het . 16 +intronic SEMA3E chr7 83078404 83078404 - TTTA het . 2 +intronic SEMA3E chr7 83098428 83098428 - T het . 16 +intronic SEMA3E chr7 83098696 83098696 T A het . 15 +intronic SEMA3E chr7 83098715 83098717 TTT - het . 8 +intronic SEMA3E chr7 83098749 83098749 G A het . 12 +intronic SEMA3E chr7 83098794 83098794 C T het . 6 +intronic SEMA3E chr7 83098899 83098899 G A het . 3 +intronic SEMA3E chr7 83101484 83101484 G T het . 3 +intronic SEMA3E chr7 83162397 83162397 C - het . 1 +intronic SEMA3E chr7 83246044 83246044 T - het . 17 +intronic SEMA3E chr7 83277700 83277701 TT - het . 10 +intergenic SEMA3E(dist=1719),SEMA3A(dist=307461) chr7 83280198 83280198 A C het . 2 +intergenic SEMA3E(dist=33308),SEMA3A(dist=275872) chr7 83311787 83311787 C T het . 2 +intergenic SEMA3E(dist=119467),SEMA3A(dist=189713) chr7 83397946 83397946 A G het . 1 +intronic SEMA3A chr7 83606353 83606353 - GA het . 2 +intronic SEMA3A chr7 83614701 83614701 C A het . 4 +intronic SEMA3A chr7 83631028 83631028 A G het . 2 +intronic SEMA3A chr7 83720435 83720436 AA - het . 2 +intronic SEMA3A chr7 83765608 83765608 T C het . 1 +intronic SEMA3D chr7 84657583 84657583 G T het . 9 +intergenic SEMA3D(dist=162711),LINC00972(dist=136480) chr7 84913958 84913958 - AAAC het . 4 +intergenic LINC00972(dist=54850),GRM3(dist=1099721) chr7 85173504 85173504 - T het . 3 +intergenic LINC00972(dist=102880),GRM3(dist=1051691) chr7 85221534 85221534 G T het . 1 +intergenic LINC00972(dist=145892),GRM3(dist=1008679) chr7 85264546 85264546 A G het . 2 +intergenic LINC00972(dist=165300),GRM3(dist=989271) chr7 85283954 85283954 T - het . 3 +intergenic LINC00972(dist=179206),GRM3(dist=975365) chr7 85297860 85297860 - A het . 2 +intergenic LINC00972(dist=189842),GRM3(dist=964729) chr7 85308496 85308496 T C het . 1 +intergenic LINC00972(dist=276260),GRM3(dist=878311) chr7 85394914 85394914 - A het . 2 +intergenic LINC00972(dist=353120),GRM3(dist=801451) chr7 85471774 85471774 A G het . 3 +intergenic LINC00972(dist=395087),GRM3(dist=759483) chr7 85513741 85513742 AT - het . 1 +intergenic LINC00972(dist=698224),GRM3(dist=456347) chr7 85816878 85816878 C A het . 3 +intergenic LINC00972(dist=1052299),GRM3(dist=102272) chr7 86170953 86170953 A G het . 2 +intronic GRM3 chr7 86323934 86323934 G A het . 2 +intronic KIAA1324L chr7 86622584 86622584 G A het . 2 +intronic DMTF1 chr7 86803665 86803665 - A het . 3 +intronic DMTF1 chr7 86809120 86809120 T G het . 3 +intronic DMTF1 chr7 86814122 86814122 - T het . 11 +intronic CROT chr7 86998937 86998937 T - het . 5 +exonic ADAM22 chr7 87762210 87762210 G A het . 12 +intergenic STEAP4(dist=155621),ZNF804B(dist=296833) chr7 88091849 88091849 G T het . 2 +intronic ZNF804B chr7 88851587 88851587 T C het . 1 +intergenic ZNF804B(dist=135595),STEAP2-AS1(dist=408230) chr7 89103437 89103437 A C het . 1 +intergenic ZNF804B(dist=233768),STEAP2-AS1(dist=310057) chr7 89201610 89201610 A T het . 3 +intronic GTPBP10 chr7 90001685 90001685 C G het . 4 +intronic CDK14 chr7 90376849 90376849 T A het . 9 +intronic CDK14 chr7 90722208 90722208 C T het . 2 +intronic CDK14 chr7 90747315 90747315 A T het . 2 +intergenic FZD1(dist=421309),MTERF1(dist=182750) chr7 91319441 91319441 C T het . 2 +intergenic FZD1(dist=428991),MTERF1(dist=175068) chr7 91327123 91327123 G T het . 2 +intergenic FZD1(dist=490334),MTERF1(dist=113722) chr7 91388466 91388469 TTTG - het . 2 +intronic AKAP9 chr7 91670319 91670320 TT - het . 12 +intronic AKAP9 chr7 91699779 91699779 G A het . 4 +intronic AKAP9 chr7 91711791 91711791 A G het . 18 +intronic AKAP9 chr7 91731763 91731768 TACTAC - het . 3 +intronic KRIT1 chr7 91855155 91855155 T G het . 15 +intergenic GATAD1(dist=9132),PEX1(dist=17824) chr7 92098513 92098513 C T het . 6 +intronic PEX1 chr7 92118842 92118842 C A het . 26 +intronic PEX1 chr7 92129162 92129163 AA - het . 16 +exonic PEX1 chr7 92131373 92131373 C A het . 10 +intronic PEX1 chr7 92135802 92135802 T A het . 6 +intronic CDK6 chr7 92254856 92254856 C A het . 3 +exonic SAMD9L chr7 92763347 92763347 C A het . 14 +exonic CALCR chr7 93055889 93055889 C A het . 8 +intergenic MIR4652(dist=4389),TFPI2(dist=164003) chr7 93350706 93350706 T - het . 2 +intergenic MIR4652(dist=80244),TFPI2(dist=88148) chr7 93426561 93426561 A G het . 3 +intronic GNGT1 chr7 93536299 93536302 AATC - het . 3 +intergenic GNGT1(dist=3943),GNG11(dist=6496) chr7 93544520 93544520 T A het . 1 +intronic COL1A2 chr7 94039542 94039542 A G het . 12 +intergenic PEG10(dist=26146),PPP1R9A(dist=211797) chr7 94325152 94325152 - T het . 5 +intergenic PEG10(dist=26152),PPP1R9A(dist=211791) chr7 94325158 94325158 A T het . 5 +intergenic PEG10(dist=26153),PPP1R9A(dist=211790) chr7 94325159 94325159 A T het . 5 +intergenic PEG10(dist=35901),PPP1R9A(dist=202042) chr7 94334907 94334907 A G het . 1 +intronic PPP1R9A chr7 94903039 94903039 T C het . 2 +intronic PPP1R9A chr7 94903041 94903041 C A het . 2 +UTR3 PON3(NM_000940:c.*29delA) chr7 94989256 94989256 T - het . 9 +intronic PDK4 chr7 95217140 95217140 A C het . 13 +intronic PDK4 chr7 95217195 95217195 T - het . 3 +intergenic PDK4(dist=139417),DYNC1I1(dist=36476) chr7 95365342 95365342 C - het . 2 +intronic DYNC1I1 chr7 95447689 95447689 A C het . 3 +intronic DYNC1I1 chr7 95447786 95447786 T A het . 5 +intronic DYNC1I1 chr7 95508212 95508212 T G het . 2 +intronic DYNC1I1 chr7 95508229 95508229 G A het . 3 +intronic SLC25A13 chr7 95775849 95775849 A - het . 26 +intronic SLC25A13 chr7 95809650 95809650 A C het . 2 +intronic SLC25A13 chr7 95936162 95936162 C A het . 10 +intronic SEM1 chr7 96330567 96330567 C A het . 2 +intergenic SEM1(dist=208840),DLX6-AS1(dist=49784) chr7 96548043 96548043 A T het . 2 +exonic DLX6 chr7 96635421 96635423 GCC - het . 15 +ncRNA_intronic CZ1P-ASNS chr7 97493502 97493502 C A het . 6 +ncRNA_intronic CCZ1P-OR7E38P,CZ1P-ASNS chr7 97599692 97599693 TT - het . 4 +intronic TECPR1 chr7 97846857 97846859 GAG - het . 5 +intronic TECPR1 chr7 97852899 97852899 A G het . 3 +exonic BAIAP2L1 chr7 97922851 97922851 C T het . 5 +exonic BAIAP2L1 chr7 97922875 97922875 G A het . 7 +intronic BAIAP2L1 chr7 97944933 97944933 - T het . 4 +intronic BAIAP2L1 chr7 97944935 97944935 - T het . 4 +intronic BAIAP2L1 chr7 97944937 97944937 - TAAT het . 4 +intronic BAIAP2L1 chr7 98015049 98015049 G T het . 6 +intergenic BAIAP2L1(dist=50229),NPTX2(dist=165941) chr7 98080656 98080656 - T het . 2 +intergenic BAIAP2L1(dist=145816),NPTX2(dist=70347) chr7 98176243 98176250 AAACAAAC - het . 7 +intronic TRRAP chr7 98495299 98495299 - TT het . 5 +intronic TRRAP chr7 98495304 98495304 G T het . 8 +intronic TRRAP chr7 98513551 98513551 T C het . 5 +intronic TRRAP chr7 98559241 98559241 T A het . 1 +intronic BUD31 chr7 99008665 99008665 C A het . 10 +intronic ZKSCAN5 chr7 99128680 99128680 A - het . 8 +intronic CYP3A7,CYP3A7-CYP3A51P chr7 99314986 99314986 A G het . 19 +intronic CYP3A43 chr7 99436198 99436198 G A het . 2 +intergenic AZGP1P1(dist=11681),ZKSCAN1(dist=19633) chr7 99593541 99593542 GA AT het . 2 +exonic ZNF3 chr7 99662512 99662515 TAGT - het . 4 +exonic MCM7 chr7 99695501 99695501 G T het . 13 +exonic AP4M1 chr7 99700397 99700397 C A het . 13 +intronic TAF6 chr7 99711462 99711462 C - het . 6 +intronic CNPY4 chr7 99718192 99718192 A G het . 2 +intergenic MBLAC1(dist=12201),LAMTOR4(dist=8200) chr7 99738322 99738322 G C het . 4 +intronic STAG3 chr7 99782579 99782579 T C het . 2 +splicing GIGYF1(NM_022574:exon5:c.482+2T>G) chr7 100284919 100284919 A C het . 9 +exonic ZAN chr7 100334929 100334929 C T het . 4 +exonic ZAN chr7 100364791 100364791 G - het . 15 +exonic ZAN chr7 100395003 100395003 G C het . 10 +intronic EPHB4 chr7 100421932 100421932 T G het . 4 +UTR5 SLC12A9(NM_001363494:c.-64del-) chr7 100424587 100424587 G - het . 5 +intronic SRRT chr7 100482526 100482526 C G het . 6 +intronic SRRT chr7 100483078 100483078 - C het . 2 +intronic SRRT chr7 100484917 100484917 C T het . 4 +exonic MUC3A chr7 100549873 100549873 G A het . 7 +exonic MUC3A chr7 100549884 100549884 C T het . 9 +exonic MUC3A chr7 100549894 100549894 T C het . 10 +exonic MUC3A chr7 100549896 100549896 G C het . 10 +exonic MUC3A chr7 100549902 100549902 C T het . 9 +exonic MUC3A chr7 100549914 100549914 G A het . 8 +exonic MUC3A chr7 100549935 100549935 T G het . 8 +exonic MUC3A chr7 100549942 100549942 T C het . 9 +exonic MUC3A chr7 100549979 100549979 C T het . 18 +exonic MUC3A chr7 100550032 100550032 - CCT het . 11 +exonic MUC3A chr7 100550184 100550184 C A het . 19 +exonic MUC3A chr7 100550203 100550203 T A het . 15 +exonic MUC3A chr7 100550205 100550205 A C het . 15 +exonic MUC3A chr7 100550245 100550245 G A het . 15 +exonic MUC3A chr7 100550252 100550252 A G het . 18 +exonic MUC3A chr7 100550271 100550271 A G het . 19 +exonic MUC3A chr7 100551370 100551371 AG TC het . 5 +exonic MUC3A chr7 100551376 100551376 C A het . 4 +exonic MUC3A chr7 100551390 100551390 T A het . 4 +exonic MUC3A chr7 100551392 100551393 CG TA het . 4 +exonic MUC3A chr7 100551397 100551397 G T het . 4 +exonic MUC3A chr7 100551400 100551400 G A het . 3 +exonic MUC3A chr7 100552412 100552412 T C het . 11 +exonic MUC3A chr7 100552435 100552436 TC AT het . 12 +exonic MUC3A chr7 100552440 100552440 C T het . 11 +exonic MUC3A chr7 100608778 100608779 TC CT het . 2 +intronic MUC3A chr7 100608920 100608920 T C het . 3 +intronic MUC3A chr7 100610026 100610026 A C het . 15 +exonic MUC3A chr7 100610069 100610069 C T het . 24 +intronic MUC3A chr7 100610254 100610255 CC TT het . 10 +upstream MUC12(dist=65) chr7 100612839 100612839 A G het . 11 +upstream MUC12(dist=62) chr7 100612842 100612842 T C het . 11 +upstream MUC12(dist=39) chr7 100612865 100612865 C T het . 12 +upstream MUC12(dist=35) chr7 100612869 100612869 G A het . 13 +upstream MUC12(dist=29) chr7 100612875 100612875 C T het . 14 +exonic MUC12 chr7 100612945 100612945 C T het . 11 +exonic MUC12 chr7 100612952 100612952 G A het . 8 +intronic SERPINE1 chr7 100780176 100780176 A G het . 5 +intergenic SERPINE1(dist=4951),AP1S1(dist=10181) chr7 100787498 100787498 A G het . 3 +intronic AP1S1 chr7 100800635 100800635 G A het . 4 +UTR3 AP1S1(NM_001283:c.*170C>T) chr7 100804017 100804017 C T het . 15 +intergenic FIS1(dist=50937),LNCPRESS1(dist=3586) chr7 100939308 100939308 C T het . 1 +intergenic FIS1(dist=50943),LNCPRESS1(dist=3580) chr7 100939314 100939314 C T het . 1 +intergenic FIS1(dist=50955),LNCPRESS1(dist=3568) chr7 100939326 100939326 - GAA het . 1 +downstream MYL10(dist=531) chr7 101256074 101256074 C T het . 2 +intergenic MYL10(dist=162275),CUX1(dist=24333) chr7 101434851 101434851 T C het . 2 +intergenic MYL10(dist=162294),CUX1(dist=24314) chr7 101434870 101434870 A G het . 2 +intronic CUX1 chr7 101726875 101726875 C T het . 2 +intronic CUX1 chr7 101747575 101747575 A G het . 12 +intronic CUX1 chr7 101747593 101747593 - T het . 10 +intronic CUX1 chr7 101870599 101870599 A G het . 1 +exonic CUX1 chr7 101916647 101916647 A G het . 4 +ncRNA_intronic LOC100630923 chr7 102063493 102063493 C A het . 6 +ncRNA_intronic LOC100630923 chr7 102063527 102063527 G C het . 8 +UTR5 POLR2J(NM_006234:c.-15A>G) chr7 102119322 102119322 T C het . 12 +exonic FBXL13 chr7 102462613 102462613 C A het . 13 +exonic LRRC17 chr7 102575000 102575002 GAA - het . 17 +intronic ARMC10 chr7 102724372 102724372 A T het . 6 +intronic ARMC10 chr7 102727052 102727052 T - het . 4 +intronic ARMC10 chr7 102727071 102727071 T G het . 3 +intronic ARMC10 chr7 102737945 102737945 G A het . 3 +ncRNA_exonic RPL19P12 chr7 102781834 102781834 T A het . 14 +ncRNA_exonic RPL19P12 chr7 102781851 102781851 G A het . 17 +ncRNA_exonic RPL19P12 chr7 102781853 102781853 C T het . 16 +ncRNA_intronic DPY19L2P2 chr7 102878400 102878400 C A het . 8 +intronic PMPCB chr7 102944812 102944812 - T het . 7 +intronic DNAJC2 chr7 102961210 102961211 AT - het . 4 +exonic DNAJC2 chr7 102982378 102982378 G C het . 10 +intronic SLC26A5 chr7 103038164 103038165 AA - het . 2 +intronic RELN chr7 103213304 103213304 T A het . 2 +intronic RELN chr7 103281110 103281110 C A het . 17 +intronic RELN chr7 103363527 103363527 C A het . 13 +intronic ORC5 chr7 103828665 103828665 - AT het . 8 +UTR5 LHFPL3(NM_199000:c.-33_-31del-) chr7 103969195 103969197 AGG - het . 5 +intronic LHFPL3 chr7 104110392 104110392 C T het . 4 +intronic LHFPL3 chr7 104110406 104110406 C G het . 6 +intronic LHFPL3 chr7 104172709 104172709 A G het . 1 +intronic LHFPL3 chr7 104188232 104188232 T C het . 1 +intronic LHFPL3 chr7 104263715 104263715 G T het . 2 +intronic LHFPL3 chr7 104377453 104377453 A C het . 6 +intronic KMT2E chr7 104681592 104681593 AA - het . 7 +intronic KMT2E chr7 104691505 104691505 C T het . 2 +intronic KMT2E chr7 104691542 104691545 TCTC - het . 4 +intronic PUS7 chr7 105102551 105102555 GAAAA - het . 3 +intronic PUS7 chr7 105108969 105108969 C A het . 7 +intergenic EFCAB10(dist=1652),ATXN7L1(dist=21580) chr7 105223641 105223641 G C het . 3 +intronic ATXN7L1 chr7 105248470 105248470 G A het . 5 +intronic ATXN7L1 chr7 105250903 105250905 CAG TGA het . 1 +intronic ATXN7L1 chr7 105372220 105372222 AAA - het . 12 +intronic ATXN7L1 chr7 105510728 105510729 AA - het . 2 +intergenic ATXN7L1(dist=60180),CDHR3(dist=26446) chr7 105577211 105577211 - AAAA het . 3 +exonic CDHR3 chr7 105624716 105624716 G A het . 2 +intronic SYPL1 chr7 105733037 105733037 T C het . 2 +intergenic NAMPT(dist=178627),CCDC71L(dist=190543) chr7 106104265 106104265 C T het . 2 +intergenic CCDC71L(dist=81524),PIK3CG(dist=122565) chr7 106383158 106383158 C T het . 2 +exonic PIK3CG chr7 106508790 106508790 C A het . 17 +intronic PRKAR2B chr7 106736155 106736155 G A het . 3 +intronic COG5 chr7 106844105 106844105 - TAT het . 15 +intronic COG5 chr7 106922004 106922004 T A het . 8 +intronic COG5 chr7 106922106 106922106 A G het . 2 +intronic COG5 chr7 107052798 107052800 GAT - het . 2 +intronic COG5 chr7 107167661 107167661 - A het . 12 +intronic COG5 chr7 107194911 107194911 C A het . 3 +exonic CBLL1 chr7 107399030 107399030 G A het . 18 +intergenic SLC26A3(dist=50067),DLD(dist=37807) chr7 107493745 107493745 C T het . 2 +intronic DLD chr7 107542643 107542649 ATTTTAG - het . 6 +intronic DLD chr7 107542662 107542662 T C het . 7 +intronic DLD chr7 107542913 107542913 T C het . 10 +UTR3 DLD(NM_001289751:c.*207G>A,NM_001289750:c.*207G>A,NM_001289752:c.*207G>A,NM_000108:c.*207G>A) chr7 107559911 107559911 G A het . 1 +exonic NRCAM chr7 107834613 107834613 G C het . 4 +intronic NRCAM chr7 107834624 107834624 T C het . 6 +intronic NRCAM chr7 107836064 107836064 - A het . 2 +intronic NRCAM chr7 107836118 107836118 T - het . 5 +intergenic C7orf66(dist=256427),EIF3IP1(dist=818213) chr7 108781071 108781071 T G het . 1 +intergenic C7orf66(dist=327815),EIF3IP1(dist=746825) chr7 108852459 108852459 G A het . 2 +intergenic C7orf66(dist=327821),EIF3IP1(dist=746819) chr7 108852465 108852465 C T het . 2 +intergenic C7orf66(dist=988445),EIF3IP1(dist=86195) chr7 109513089 109513089 C G het . 2 +intergenic C7orf66(dist=1000451),EIF3IP1(dist=74189) chr7 109525095 109525095 A T het . 2 +intergenic EIF3IP1(dist=187935),IMMP2L(dist=514901) chr7 109788205 109788205 G A het . 4 +intergenic EIF3IP1(dist=257577),IMMP2L(dist=445259) chr7 109857847 109857847 G A het . 2 +intergenic EIF3IP1(dist=565720),IMMP2L(dist=137116) chr7 110165990 110165990 C G het . 2 +intronic IMMP2L chr7 110486422 110486422 - TTG het . 2 +intronic IMMP2L chr7 110670519 110670519 T C het . 2 +intronic IMMP2L chr7 110828020 110828020 G T het . 2 +intronic DOCK4 chr7 111379634 111379634 C A het . 5 +intronic DOCK4 chr7 111382324 111382324 C T het . 3 +intronic DOCK4 chr7 111390462 111390462 C T het . 2 +intronic DOCK4 chr7 111487026 111487026 G A het . 4 +intronic DOCK4 chr7 111555765 111555765 A T het . 6 +intronic DOCK4 chr7 111611924 111611924 G T het . 3 +intronic DOCK4 chr7 111640504 111640504 T G het . 21 +intronic DOCK4 chr7 111640509 111640512 AATA - het . 21 +intronic IFRD1 chr7 112095782 112095782 T G het . 19 +intronic IFRD1 chr7 112096031 112096031 G A het . 33 +intronic IFRD1 chr7 112101908 112101908 T - het . 35 +intronic IFRD1 chr7 112107983 112107986 GGTC - het . 23 +intronic IFRD1 chr7 112107999 112107999 T C het . 23 +intronic LSMEM1 chr7 112127230 112127230 - AAAAGAAGGAATG het . 10 +intergenic LSMEM1(dist=30545),LOC100996249(dist=96628) chr7 112161488 112161492 AAAAC - het . 4 +intronic BMT2 chr7 112531449 112531449 C T het . 2 +intronic BMT2 chr7 112531466 112531466 T C het . 1 +exonic GPR85 chr7 112724525 112724525 A G het . 20 +intergenic SMIM30(dist=73103),PPP1R3A(dist=685142) chr7 112831740 112831740 - AAC het . 5 +intergenic SMIM30(dist=73106),PPP1R3A(dist=685139) chr7 112831743 112831743 T C het . 5 +intergenic SMIM30(dist=73115),PPP1R3A(dist=685130) chr7 112831752 112831752 - A het . 5 +intergenic SMIM30(dist=262884),PPP1R3A(dist=495361) chr7 113021521 113021521 - T het . 2 +intergenic NONE(dist=NONE),FOXP2(dist=133925) chr7 113921127 113921127 G A het . 2 +intergenic NONE(dist=NONE),FOXP2(dist=87196) chr7 113967856 113967856 - TTTTG het . 4 +intronic FOXP2 chr7 114156758 114156758 - T het . 7 +intronic FOXP2 chr7 114298060 114298060 C A het . 25 +intronic FOXP2 chr7 114301865 114301865 G C het . 4 +UTR3 FOXP2(NM_148900:c.*241A>T,NM_148898:c.*241A>T,NM_001172766:c.*241A>T,NM_014491:c.*241A>T) chr7 114330222 114330222 A T het . 6 +UTR3 FOXP2(NM_148900:c.*1387C>A,NM_148898:c.*1387C>A,NM_001172766:c.*1387C>A,NM_014491:c.*1387C>A) chr7 114331368 114331368 C A het . 13 +UTR3 FOXP2(NM_148900:c.*2004delA,NM_148898:c.*2004delA,NM_001172766:c.*2004delA,NM_014491:c.*2004delA) chr7 114331985 114331985 A - het . 4 +intergenic FOXP2(dist=87392),MDFIC(dist=140990) chr7 114421219 114421219 C A het . 2 +intronic MDFIC chr7 114591031 114591031 A C het . 1 +ncRNA_intronic LINC01392 chr7 114843438 114843438 C T het . 2 +intergenic LINC01392(dist=161514),SNORA25B(dist=188441) chr7 115032923 115032928 AAGAAG - het . 1 +intronic TFEC chr7 115617223 115617223 A T het . 1 +intergenic TFEC(dist=97660),TES(dist=82020) chr7 115768527 115768527 T C het . 2 +intronic TES chr7 115874818 115874819 AA - het . 3 +intergenic LOC102724434(dist=198518),CAV2(dist=14356) chr7 116125299 116125299 T A het . 2 +intergenic LOC102724434(dist=204812),CAV2(dist=8062) chr7 116131593 116131593 A T het . 3 +intronic CAV2 chr7 116144105 116144108 AGAA - het . 2 +intronic MET chr7 116325326 116325326 T C het . 2 +intronic MET chr7 116409676 116409676 T - het . 16 +ncRNA_intronic ST7-AS2 chr7 116772155 116772155 - T het . 9 +intergenic ST7(dist=45313),WNT2(dist=1298) chr7 116915388 116915388 C T het . 1 +intronic ASZ1 chr7 117007318 117007318 T C het . 5 +intronic CFTR chr7 117243974 117243974 C T het . 5 +exonic CFTR chr7 117254706 117254706 C A het . 29 +intergenic CTTNBP2(dist=9891),LSM8(dist=300634) chr7 117523452 117523452 C A het . 5 +intergenic CTTNBP2(dist=30619),LSM8(dist=279906) chr7 117544180 117544180 C T het . 1 +intergenic CTTNBP2(dist=218952),LSM8(dist=91573) chr7 117732513 117732513 T C het . 2 +intergenic ANKRD7(dist=717508),LINC02476(dist=659192) chr7 118600292 118600292 G A het . 3 +intergenic ANKRD7(dist=739461),LINC02476(dist=637239) chr7 118622245 118622245 A C het . 2 +intergenic ANKRD7(dist=750040),LINC02476(dist=626660) chr7 118632824 118632824 C T het . 2 +intergenic ANKRD7(dist=750060),LINC02476(dist=626640) chr7 118632844 118632844 C T het . 2 +intergenic ANKRD7(dist=768778),LINC02476(dist=607922) chr7 118651562 118651562 G A het . 2 +intergenic ANKRD7(dist=779583),LINC02476(dist=597117) chr7 118662367 118662367 T G het . 1 +intergenic ANKRD7(dist=807254),LINC02476(dist=569446) chr7 118690038 118690038 A C het . 2 +intergenic ANKRD7(dist=1203599),LINC02476(dist=173101) chr7 119086383 119086383 G A het . 3 +ncRNA_intronic LINC02476 chr7 119447208 119447208 G A het . 1 +ncRNA_intronic LINC02476 chr7 119458589 119458589 G C het . 2 +ncRNA_intronic LINC02476 chr7 119459490 119459490 - A het . 2 +ncRNA_intronic LINC02476 chr7 119459498 119459498 G T het . 1 +intergenic LINC02476(dist=1784),KCND2(dist=364509) chr7 119549213 119549213 A C het . 3 +intergenic LINC02476(dist=299406),KCND2(dist=66887) chr7 119846835 119846835 G A het . 1 +intergenic LINC02476(dist=299410),KCND2(dist=66883) chr7 119846839 119846839 T G het . 1 +intergenic LINC02476(dist=326688),KCND2(dist=39601) chr7 119874117 119874121 AAAAT - het . 2 +intronic KCND2 chr7 120057988 120057988 A C het . 2 +intronic KCND2 chr7 120205548 120205548 G T het . 1 +intronic KCND2 chr7 120380962 120380965 TTTG - het . 13 +intronic KCND2 chr7 120385516 120385516 - T het . 4 +intronic TSPAN12 chr7 120440808 120440808 G T het . 4 +intronic TSPAN12 chr7 120450658 120450658 G A het . 19 +intergenic TSPAN12(dist=11642),ING3(dist=80998) chr7 120509819 120509819 T A het . 1 +upstream ING3(dist=31) chr7 120590786 120590786 - G het . 4 +intronic ING3 chr7 120606781 120606781 A G het . 6 +intronic ING3 chr7 120606862 120606862 - T het . 5 +intronic CPED1 chr7 120691424 120691424 - T het . 12 +intronic CPED1 chr7 120697400 120697400 G A het . 1 +intronic CPED1 chr7 120764573 120764573 C A het . 11 +exonic CPED1 chr7 120776097 120776097 C G het . 20 +intronic CPED1 chr7 120934861 120934861 A - het . 8 +intergenic FAM3C(dist=11074),PTPRZ1(dist=465663) chr7 121047496 121047496 T C het . 1 +intergenic FAM3C(dist=23751),PTPRZ1(dist=452986) chr7 121060173 121060173 C T het . 1 +intronic PTPRZ1 chr7 121597383 121597383 G A het . 4 +intronic PTPRZ1 chr7 121695543 121695543 A G het . 2 +intronic PTPRZ1 chr7 121699790 121699790 T - het . 6 +intronic AASS chr7 121719823 121719823 G A het . 12 +intronic AASS chr7 121723108 121723108 - AAGAA het . 7 +exonic AASS chr7 121769497 121769497 G C het . 41 +intergenic AASS(dist=90627),FEZF1(dist=66392) chr7 121874971 121874971 A G het . 3 +intergenic AASS(dist=127164),FEZF1(dist=29855) chr7 121911508 121911508 A - het . 3 +intergenic AASS(dist=144068),FEZF1(dist=12951) chr7 121928412 121928412 C T het . 3 +intronic FEZF1 chr7 121942832 121942832 - ACA het . 18 +intronic FEZF1 chr7 121942847 121942847 G C het . 20 +intronic CADPS2 chr7 121979635 121979635 G A het . 2 +intronic CADPS2 chr7 122056351 122056351 A - het . 8 +intronic CADPS2 chr7 122087592 122087592 G A het . 1 +intronic CADPS2 chr7 122131535 122131535 G A het . 7 +intronic CADPS2 chr7 122197474 122197474 T C het . 2 +exonic RNF133 chr7 122338078 122338078 C A het . 21 +intronic CADPS2 chr7 122525991 122525991 C A het . 9 +intergenic CADPS2(dist=91883),TAS2R16(dist=16063) chr7 122618696 122618696 T C het . 3 +intergenic TAS2R16(dist=19718),SLC13A1(dist=98116) chr7 122655472 122655472 C T het . 4 +intergenic TAS2R16(dist=71594),SLC13A1(dist=46240) chr7 122707348 122707348 C T het . 2 +intronic SLC13A1 chr7 122757720 122757720 A - het . 5 +intergenic SLC13A1(dist=135116),IQUB(dist=117091) chr7 122975141 122975145 AAATC - het . 1 +intergenic SLC13A1(dist=135135),IQUB(dist=117076) chr7 122975160 122975160 T C het . 2 +intronic NDUFA5 chr7 123185790 123185791 TA - het . 13 +intronic NDUFA5 chr7 123185857 123185857 A T het . 19 +intronic NDUFA5 chr7 123190493 123190493 - CTGGATACCACAAATC het . 15 +intronic NDUFA5 chr7 123197642 123197642 G C het . 19 +exonic ASB15 chr7 123267245 123267245 C T het . 16 +intronic ASB15 chr7 123272278 123272278 T C het . 1 +UTR3 WASL(NM_003941:c.*26_*25delAT) chr7 123324547 123324548 AT - het . 8 +exonic WASL chr7 123324582 123324582 C A het . 21 +splicing WASL(NM_003941:exon10:r.spl) chr7 123329093 123329094 TA - het . 14 +intronic WASL chr7 123336857 123336857 A C het . 7 +intronic WASL chr7 123360399 123360400 AA - het . 9 +intergenic TMEM229A(dist=116177),LOC101928211(dist=187734) chr7 123789700 123789700 T A het . 2 +intergenic TMEM229A(dist=116192),LOC101928211(dist=187719) chr7 123789715 123789715 C G het . 1 +intergenic TMEM229A(dist=116207),LOC101928211(dist=187704) chr7 123789730 123789730 T C het . 1 +intergenic LOC101928211(dist=10279),GPR37(dist=381510) chr7 124002429 124002429 A G het . 2 +intergenic LOC101928211(dist=18615),GPR37(dist=373174) chr7 124010765 124010765 C T het . 1 +intergenic LOC101928211(dist=44814),GPR37(dist=346975) chr7 124036964 124036964 A C het . 1 +intergenic LOC101928211(dist=214661),GPR37(dist=177128) chr7 124206811 124206811 T A het . 1 +intergenic LOC101928211(dist=214672),GPR37(dist=177117) chr7 124206822 124206822 C T het . 2 +intergenic LOC101928211(dist=292059),GPR37(dist=99730) chr7 124284209 124284209 A C het . 2 +intergenic LOC101928211(dist=346560),GPR37(dist=45229) chr7 124338710 124338710 A G het . 3 +intergenic LOC101928211(dist=356073),GPR37(dist=35716) chr7 124348223 124348223 G A het . 3 +intronic POT1 chr7 124469267 124469267 A T het . 25 +intronic POT1 chr7 124477182 124477182 A G het . 5 +exonic POT1 chr7 124481065 124481065 A T het . 28 +intronic POT1 chr7 124481403 124481403 T A het . 4 +intronic POT1 chr7 124481420 124481420 T A het . 4 +ncRNA_intronic POT1-AS1 chr7 124578380 124578380 C A het . 2 +ncRNA_intronic POT1-AS1 chr7 124578389 124578389 C A het . 2 +ncRNA_intronic POT1-AS1 chr7 124674648 124674648 A G het . 4 +ncRNA_intronic POT1-AS1 chr7 124674652 124674652 G T het . 4 +intergenic LOC101928283(dist=16495),GRM8(dist=1042782) chr7 125035870 125035870 T C het . 1 +intergenic LOC101928283(dist=26574),GRM8(dist=1032703) chr7 125045949 125045949 A G het . 2 +intergenic LOC101928283(dist=153781),GRM8(dist=905496) chr7 125173156 125173156 G A het . 2 +intergenic LOC101928283(dist=153785),GRM8(dist=905492) chr7 125173160 125173160 C T het . 2 +intergenic LOC101928283(dist=153809),GRM8(dist=905468) chr7 125173184 125173184 T G het . 3 +intergenic LOC101928283(dist=377293),GRM8(dist=681984) chr7 125396668 125396668 A G het . 3 +intergenic LOC101928283(dist=389156),GRM8(dist=670121) chr7 125408531 125408531 G A het . 2 +intergenic LOC101928283(dist=604019),GRM8(dist=455258) chr7 125623394 125623394 A C het . 1 +intergenic LOC101928283(dist=614872),GRM8(dist=444405) chr7 125634247 125634247 T C het . 4 +intergenic LOC101928283(dist=734261),GRM8(dist=325016) chr7 125753636 125753636 A G het . 2 +intergenic LOC101928283(dist=850611),GRM8(dist=208666) chr7 125869986 125869986 - G het . 2 +intergenic LOC101928283(dist=1004009),GRM8(dist=55268) chr7 126023384 126023384 A T het . 2 +exonic GRM8 chr7 126173552 126173552 C T het . 11 +intronic GRM8 chr7 126635027 126635027 - TCC het . 2 +intronic GRM8 chr7 126635028 126635028 G C het . 2 +intronic GRM8 chr7 126635029 126635029 - CC het . 2 +intronic GRM8 chr7 126891041 126891041 T C het . 2 +UTR3 PAX4(NM_006193:c.*245G>T) chr7 127250873 127250873 C A het . 6 +UTR3 PAX4(NM_006193:c.*211A>G) chr7 127250907 127250907 T C het . 4 +intergenic MIR129-1(dist=6718),LEP(dist=26617) chr7 127854714 127854714 A - het . 2 +exonic PRRT4 chr7 127991057 127991057 G A het . 3 +intronic METTL2B chr7 128129490 128129490 A - het . 3 +intronic METTL2B chr7 128136814 128136814 - TTTG het . 4 +UTR3 METTL2B(NM_018396:c.*53A>T) chr7 128142023 128142023 A T het . 3 +UTR3 METTL2B(NM_018396:c.*63T>C) chr7 128142033 128142033 T C het . 3 +UTR3 METTL2B(NM_018396:c.*618delG) chr7 128142588 128142588 G - het . 2 +intergenic METTL2B(dist=18184),LINC01000(dist=120133) chr7 128161162 128161162 G A het . 2 +ncRNA_exonic LINC01000 chr7 128294760 128294760 T C het . 11 +intronic CALU chr7 128396682 128396682 G T het . 2 +intronic OPN1SW chr7 128413997 128413997 - T het . 5 +intronic CCDC136 chr7 128451353 128451353 - AGAGAGCCTGGGA het . 27 +exonic FLNC chr7 128487838 128487838 C A het . 4 +exonic FLNC chr7 128487866 128487866 T C het . 7 +intronic ATP6V1F chr7 128503157 128503157 T G het . 5 +exonic IRF5 chr7 128587352 128587381 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT - het . 19 +upstream LOC407835(dist=821) chr7 128765504 128765504 T - het . 3 +upstream LOC407835(dist=814) chr7 128765511 128765511 T A het . 2 +ncRNA_exonic LOC407835 chr7 128767410 128767410 A G het . 10 +intronic TSPAN33 chr7 128785008 128785008 C T het . 2 +intronic TSPAN33 chr7 128786778 128786778 T G het . 2 +splicing SMO(NM_005631:exon3:c.747+1G>A) chr7 128845254 128845254 G A het . 3 +intronic SMO chr7 128845277 128845277 G C het . 3 +intergenic SMKR1(dist=31553),NRF1(dist=67215) chr7 129184326 129184328 AAA - het . 1 +intergenic SMKR1(dist=76936),NRF1(dist=21834) chr7 129229709 129229709 G T het . 2 +intronic NRF1 chr7 129301787 129301787 G A het . 2 +intronic NRF1 chr7 129372438 129372438 - TTTG het . 4 +intergenic MIR183(dist=23201),UBE2H(dist=32518) chr7 129438055 129438055 G A het . 1 +intergenic UBE2H(dist=21871),ZC3HC1(dist=43455) chr7 129614671 129614671 T - het . 3 +UTR3 KLHDC10(NM_014997:c.*4346_*4352delAAAAAAA) chr7 129774932 129774938 AAAAAAA - het . 2 +UTR3 KLHDC10(NM_014997:c.*4357A>C) chr7 129774943 129774943 A C het . 2 +intergenic LOC100128325(dist=3594),TMEM209(dist=18501) chr7 129786052 129786052 T - het . 2 +exonic SSMEM1 chr7 129856004 129856004 T C het . 21 +intergenic SSMEM1(dist=39160),CPA2(dist=10859) chr7 129895844 129895844 A G het . 6 +intronic CPA5 chr7 129994266 129994266 A G het . 3 +UTR3 CEP41(NM_018718:c.*3010delT,NM_001257159:c.*3010delT,NM_001257158:c.*3010delT) chr7 130035722 130035722 A - het . 12 +UTR3 CEP41(NM_018718:c.*1955G>T,NM_001257159:c.*1955G>T,NM_001257158:c.*1955G>T) chr7 130036777 130036777 C A het . 23 +UTR3 CEP41(NM_018718:c.*1931C>T,NM_001257159:c.*1931C>T,NM_001257158:c.*1931C>T) chr7 130036801 130036801 G A het . 26 +exonic COPG2 chr7 130147178 130147178 G A het . 24 +intronic COPG2 chr7 130147745 130147746 CC TT het . 5 +intronic COPG2 chr7 130148903 130148903 A G het . 14 +intronic COPG2 chr7 130292531 130292531 T C het . 17 +intronic COPG2 chr7 130297120 130297120 A - het . 3 +exonic KLF14 chr7 130418720 130418720 A C het . 2 +ncRNA_intronic LINC-PINT chr7 130739951 130739951 T A het . 2 +intronic MKLN1 chr7 130837253 130837253 T - het . 3 +intergenic MKLN1(dist=1995),PODXL(dist=1628) chr7 131183393 131183393 T A het . 1 +intronic PODXL chr7 131191536 131191536 A G het . 3 +intronic PODXL chr7 131191555 131191555 C - het . 2 +intronic PODXL chr7 131210113 131210113 C T het . 1 +intergenic PODXL(dist=20252),LOC101928782(dist=333351) chr7 131261628 131261628 G A het . 2 +intergenic PODXL(dist=111484),LOC101928782(dist=242119) chr7 131352860 131352860 G A het . 1 +intergenic PODXL(dist=293936),LOC101928782(dist=59667) chr7 131535312 131535312 - A het . 3 +intergenic PODXL(dist=293954),LOC101928782(dist=59649) chr7 131535330 131535330 A G het . 2 +intergenic LOC101928782(dist=68246),PLXNA4(dist=106133) chr7 131701958 131701958 C A het . 7 +intronic PLXNA4 chr7 131913082 131913082 A C het . 8 +intronic PLXNA4 chr7 132239900 132239900 G C het . 2 +ncRNA_intronic FLJ40288 chr7 132383205 132383212 AGAAAGAA - het . 3 +intronic CHCHD3 chr7 132527209 132527209 G T het . 2 +intronic CHCHD3 chr7 132672329 132672329 G A het . 2 +intronic EXOC4 chr7 132997918 132997918 G T het . 2 +intronic EXOC4 chr7 133036358 133036358 G A het . 2 +intronic EXOC4 chr7 133257278 133257278 T A het . 1 +intronic EXOC4 chr7 133306891 133306891 G C het . 1 +intronic EXOC4 chr7 133318453 133318454 AA - het . 3 +intronic EXOC4 chr7 133322678 133322678 A G het . 2 +intronic EXOC4 chr7 133322680 133322680 A T het . 2 +intronic EXOC4 chr7 133736983 133736983 C G het . 1 +intergenic EXOC4(dist=3453),LRGUK(dist=58139) chr7 133753966 133753966 - CTTCTTCTC het . 2 +intronic SLC35B4 chr7 133984140 133984140 T C het . 2 +intergenic SLC35B4(dist=39761),AKR1B1(dist=85514) chr7 134041588 134041588 C T het . 1 +intergenic SLC35B4(dist=41740),AKR1B1(dist=83531) chr7 134043567 134043571 AAAAC - het . 2 +intronic AKR1B1 chr7 134136219 134136219 G T het . 1 +intronic AKR1B10 chr7 134225788 134225788 C T het . 16 +exonic CALD1 chr7 134644854 134644854 C A het . 9 +intronic AGBL3 chr7 134730441 134730441 A G het . 1 +intronic CYREN,TMEM140 chr7 134838258 134838258 G A het . 2 +intronic WDR91 chr7 134890855 134890855 T G het . 3 +intronic STRA8 chr7 134930169 134930169 - GAG het . 6 +intergenic CNOT4(dist=15753),NUP205(dist=32034) chr7 135210628 135210628 A G het . 2 +intronic NUP205 chr7 135315358 135315358 A T het . 3 +intergenic FAM180A(dist=14118),MTPN(dist=163791) chr7 135447712 135447712 G A het . 1 +intergenic MTPN(dist=774131),CHRM2(dist=117064) chr7 136436335 136436335 T - het . 1 +intergenic MTPN(dist=774154),CHRM2(dist=117041) chr7 136436358 136436358 A G het . 2 +intronic CHRM2 chr7 136573834 136573834 C T het . 2 +intergenic LOC349160(dist=12385),PTN(dist=50619) chr7 136861473 136861473 T A het . 1 +intronic DGKI chr7 137080244 137080244 T G het . 2 +intronic DGKI chr7 137294443 137294443 G A het . 14 +intronic DGKI chr7 137339599 137339599 A - het . 8 +intronic DGKI chr7 137368112 137368112 - TGTT het . 10 +intronic DGKI chr7 137391224 137391228 TTATT - het . 2 +intronic DGKI chr7 137455683 137455683 C T het . 1 +intronic DGKI chr7 137514775 137514775 G A het . 2 +intronic DGKI chr7 137527091 137527091 C A het . 2 +intergenic DGKI(dist=21948),CREB3L2(dist=6167) chr7 137553558 137553558 G A het . 3 +intronic CREB3L2 chr7 137580565 137580565 T C het . 2 +intronic CREB3L2 chr7 137580620 137580620 A C het . 5 +exonic CREB3L2 chr7 137612914 137612916 TGG - het . 10 +intronic CREB3L2 chr7 137653570 137653570 T G het . 2 +intergenic CREB3L2(dist=12098),AKR1D1(dist=62233) chr7 137698945 137698945 C T het . 2 +intergenic CREB3L2(dist=52527),AKR1D1(dist=21804) chr7 137739374 137739374 T C het . 2 +intronic AKR1D1 chr7 137767051 137767051 T C het . 3 +intronic AKR1D1 chr7 137767167 137767167 G A het . 2 +intronic AKR1D1 chr7 137773563 137773563 T G het . 23 +intronic AKR1D1 chr7 137773587 137773587 - GT het . 11 +intronic AKR1D1 chr7 137782594 137782597 TTTT - het . 22 +downstream MIR4468(dist=408) chr7 137808975 137808975 G A het . 10 +intergenic MIR4468(dist=22146),TRIM24(dist=314365) chr7 137830713 137830714 GG - het . 5 +intergenic MIR4468(dist=167593),TRIM24(dist=168919) chr7 137976160 137976160 A G het . 3 +intergenic MIR4468(dist=184205),TRIM24(dist=152307) chr7 137992772 137992772 G A het . 2 +intergenic MIR4468(dist=184379),TRIM24(dist=152133) chr7 137992946 137992946 G T het . 2 +intergenic MIR4468(dist=198146),TRIM24(dist=138366) chr7 138006713 138006713 A - het . 2 +intergenic MIR4468(dist=228292),TRIM24(dist=108220) chr7 138036859 138036859 T - het . 2 +intergenic MIR4468(dist=261416),TRIM24(dist=75096) chr7 138069983 138069983 T G het . 3 +intergenic MIR4468(dist=267092),TRIM24(dist=69420) chr7 138075659 138075659 T C het . 2 +intergenic MIR4468(dist=280324),TRIM24(dist=56187) chr7 138088891 138088892 TT - het . 7 +intergenic MIR4468(dist=280346),TRIM24(dist=56166) chr7 138088913 138088913 G T het . 8 +intergenic MIR4468(dist=281625),TRIM24(dist=54887) chr7 138090192 138090192 G A het . 3 +intergenic MIR4468(dist=333967),TRIM24(dist=2545) chr7 138142534 138142534 T C het . 1 +intronic TRIM24 chr7 138147621 138147621 A T het . 5 +intronic TRIM24 chr7 138182746 138182746 T C het . 3 +intronic TRIM24 chr7 138237452 138237452 G T het . 3 +intronic TRIM24 chr7 138238844 138238844 G A het . 2 +intronic TRIM24 chr7 138238874 138238874 A G het . 2 +exonic TRIM24 chr7 138258361 138258361 C A het . 26 +intronic TRIM24 chr7 138261334 138261334 T G het . 22 +UTR3 SVOPL(NM_174959:c.*127T>A,NM_001139456:c.*127T>A,NM_001331192:c.*127T>A) chr7 138279228 138279228 A T het . 19 +intronic SVOPL chr7 138284620 138284620 G A het . 2 +intronic SVOPL chr7 138297373 138297373 G A het . 1 +intronic SVOPL chr7 138308654 138308654 C T het . 3 +intronic SVOPL chr7 138320016 138320016 A - het . 4 +intronic SVOPL chr7 138323399 138323399 A - het . 2 +intronic SVOPL chr7 138333934 138333934 A - het . 7 +intronic SVOPL chr7 138356730 138356730 - G het . 14 +intronic SVOPL chr7 138356734 138356734 G - het . 14 +intronic SVOPL chr7 138356902 138356902 C A het . 16 +intergenic SVOPL(dist=10520),ATP6V0A4(dist=16729) chr7 138374310 138374310 A - het . 15 +intronic ATP6V0A4 chr7 138416336 138416336 C A het . 2 +intronic ATP6V0A4 chr7 138417539 138417539 A - het . 19 +intronic ATP6V0A4 chr7 138417937 138417937 T - het . 10 +exonic ATP6V0A4 chr7 138418910 138418910 G A het . 58 +intronic ATP6V0A4 chr7 138419066 138419066 C A het . 37 +intronic ATP6V0A4 chr7 138419085 138419085 A G het . 29 +intronic ATP6V0A4 chr7 138434067 138434067 A - het . 17 +intronic ATP6V0A4 chr7 138441306 138441306 A - het . 31 +intronic ATP6V0A4 chr7 138441323 138441323 T G het . 32 +intronic ATP6V0A4 chr7 138447632 138447632 C A het . 47 +intronic ATP6V0A4 chr7 138453665 138453665 C A het . 46 +intronic ATP6V0A4 chr7 138453893 138453896 AAAA - het . 25 +intronic ATP6V0A4 chr7 138454058 138454058 T - het . 13 +intronic ATP6V0A4 chr7 138460243 138460243 G A het . 2 +intronic ATP6V0A4 chr7 138464102 138464102 T A het . 1 +intronic ATP6V0A4 chr7 138473180 138473180 A C het . 2 +intronic ATP6V0A4 chr7 138473955 138473955 - T het . 3 +intronic ATP6V0A4 chr7 138473966 138473967 GG TT het . 3 +intronic TMEM213 chr7 138485423 138485425 TTC - het . 2 +intronic TMEM213 chr7 138485724 138485724 G C het . 1 +intronic TMEM213 chr7 138486911 138486911 A - het . 2 +intergenic TMEM213(dist=1070),KIAA1549(dist=24288) chr7 138491839 138491839 G A het . 3 +intergenic TMEM213(dist=1490),KIAA1549(dist=23868) chr7 138492259 138492259 T A het . 2 +intergenic TMEM213(dist=2292),KIAA1549(dist=23066) chr7 138493061 138493061 C G het . 3 +intergenic TMEM213(dist=6456),KIAA1549(dist=18902) chr7 138497225 138497225 C T het . 2 +intergenic TMEM213(dist=9462),KIAA1549(dist=15896) chr7 138500231 138500231 T - het . 2 +intergenic TMEM213(dist=11017),KIAA1549(dist=14341) chr7 138501786 138501786 A G het . 3 +intronic KIAA1549 chr7 138555817 138555817 C - het . 22 +intronic KIAA1549 chr7 138557068 138557068 C T het . 3 +intronic KIAA1549 chr7 138581496 138581496 C A het . 2 +intronic KIAA1549 chr7 138589712 138589712 C A het . 16 +intronic KIAA1549 chr7 138601431 138601431 C A het . 15 +exonic KIAA1549 chr7 138602409 138602409 A T het . 63 +exonic KIAA1549 chr7 138602417 138602417 G A het . 62 +exonic KIAA1549 chr7 138602916 138602916 G C het . 44 +intronic KIAA1549 chr7 138609657 138609657 G A het . 2 +intronic KIAA1549 chr7 138621824 138621824 A C het . 1 +intronic KIAA1549 chr7 138622450 138622451 CA TG het . 2 +intronic KIAA1549 chr7 138630518 138630518 C T het . 2 +intronic KIAA1549 chr7 138635176 138635178 AGA - het . 4 +intronic KIAA1549 chr7 138638846 138638846 G A het . 2 +intronic KIAA1549 chr7 138642155 138642155 C T het . 2 +intronic KIAA1549 chr7 138643333 138643333 A G het . 2 +intronic KIAA1549 chr7 138645040 138645041 GA - het . 2 +intronic KIAA1549 chr7 138645043 138645048 TTATTG - het . 2 +intronic KIAA1549 chr7 138647357 138647357 T C het . 3 +intronic KIAA1549 chr7 138658663 138658663 C T het . 1 +intergenic KIAA1549(dist=37382),ZC3HAV1L(dist=7004) chr7 138703446 138703448 GCA - het . 2 +intronic ZC3HAV1L chr7 138713748 138713748 T - het . 17 +intronic ZC3HAV1 chr7 138738574 138738576 AAA - het . 10 +intronic ZC3HAV1 chr7 138768492 138768492 G C het . 10 +intronic ZC3HAV1 chr7 138768494 138768494 G T het . 10 +intergenic ZC3HAV1(dist=2238),TTC26(dist=21786) chr7 138796704 138796704 - A het . 5 +intergenic ZC3HAV1(dist=2264),TTC26(dist=21760) chr7 138796730 138796730 T C het . 4 +intergenic ZC3HAV1(dist=2318),TTC26(dist=21706) chr7 138796784 138796784 T G het . 4 +intergenic ZC3HAV1(dist=2463),TTC26(dist=21559) chr7 138796929 138796931 AAG - het . 6 +intergenic ZC3HAV1(dist=13099),TTC26(dist=10925) chr7 138807565 138807565 T C het . 3 +intronic TTC26 chr7 138822504 138822504 - GTTC het . 40 +intronic TTC26 chr7 138825698 138825698 T - het . 2 +intronic TTC26 chr7 138826989 138826989 - T het . 37 +intronic TTC26 chr7 138841136 138841136 T - het . 2 +intronic TTC26 chr7 138841149 138841149 G T het . 2 +intronic TTC26 chr7 138841169 138841169 T C het . 3 +intronic TTC26 chr7 138853316 138853316 A - het . 8 +intronic TTC26 chr7 138860526 138860526 - A het . 4 +intronic TTC26 chr7 138872611 138872611 T - het . 4 +intronic TTC26 chr7 138872831 138872831 C T het . 3 +intronic TTC26 chr7 138872855 138872855 T C het . 3 +UTR3 TTC26(NM_001144920:c.*79C>A,NM_001144923:c.*12C>A,NM_024926:c.*12C>A,NM_001321741:c.*12C>A,NM_001321740:c.*12C>A,NM_001287513:c.*12C>A,NM_001287512:c.*12C>A,NM_001318333:c.*12C>A) chr7 138874190 138874190 C A het . 16 +intergenic UBN2(dist=8529),LUC7L2(dist=23594) chr7 139001511 139001511 - TG het . 4 +intergenic UBN2(dist=16334),LUC7L2(dist=15789) chr7 139009316 139009316 A G het . 2 +intergenic UBN2(dist=25975),LUC7L2(dist=6148) chr7 139018957 139018957 T C het . 3 +intronic C7orf55-LUC7L2,LUC7L2 chr7 139035430 139035430 T C het . 1 +UTR5 LUC7L2(NM_001270643:c.-14269G>T,NM_016019:c.-117G>T) chr7 139044891 139044891 G T het . 5 +intronic C7orf55-LUC7L2,LUC7L2 chr7 139051833 139051833 C T het . 3 +intronic C7orf55-LUC7L2,LUC7L2 chr7 139075246 139075246 G A het . 4 +exonic C7orf55-LUC7L2,LUC7L2 chr7 139094365 139094366 AG - het . 27 +intronic C7orf55-LUC7L2,LUC7L2 chr7 139097282 139097282 - C het . 21 +intronic C7orf55-LUC7L2,LUC7L2 chr7 139097283 139097283 T C het . 21 +ncRNA_intronic LOC100129148 chr7 139102490 139102490 A G het . 6 +ncRNA_intronic LOC100129148 chr7 139102498 139102498 A T het . 7 +intergenic LOC100129148(dist=5786),KLRG2(dist=19379) chr7 139118058 139118059 TT - het . 2 +intergenic LOC100129148(dist=5812),KLRG2(dist=19354) chr7 139118084 139118084 G A het . 2 +intergenic LOC100129148(dist=19221),KLRG2(dist=5945) chr7 139131493 139131493 G A het . 2 +intergenic LOC100129148(dist=22694),KLRG2(dist=2472) chr7 139134966 139134966 - G het . 3 +intergenic LOC100129148(dist=22711),KLRG2(dist=2455) chr7 139134983 139134983 G - het . 3 +exonic KLRG2 chr7 139138871 139138871 T G het . 9 +intronic KLRG2 chr7 139139400 139139400 A - het . 3 +intronic KLRG2 chr7 139150453 139150453 G A het . 2 +intergenic KLRG2(dist=7094),CLEC2L(dist=33123) chr7 139175551 139175551 C A het . 5 +intergenic KLRG2(dist=11645),CLEC2L(dist=28572) chr7 139180102 139180102 A G het . 2 +intergenic KLRG2(dist=28553),CLEC2L(dist=11664) chr7 139197010 139197010 A C het . 2 +intronic CLEC2L chr7 139212501 139212501 G A het . 2 +intronic HIPK2 chr7 139338486 139338486 - T het . 4 +intronic TBXAS1 chr7 139506580 139506580 C T het . 2 +intronic TBXAS1 chr7 139595724 139595724 A G het . 3 +exonic TBXAS1 chr7 139635991 139635991 C T het . 45 +intronic TBXAS1 chr7 139651385 139651385 T C het . 4 +exonic TBXAS1 chr7 139653196 139653196 A C het . 51 +exonic TBXAS1 chr7 139653207 139653207 C A het . 51 +intronic TBXAS1 chr7 139662904 139662904 A G het . 4 +intronic TBXAS1 chr7 139684417 139684417 G A het . 2 +intronic TBXAS1 chr7 139703042 139703042 G - het . 3 +intronic TBXAS1 chr7 139711082 139711085 AAAC - het . 4 +intronic PARP12 chr7 139726299 139726299 - G het . 2 +intronic PARP12 chr7 139741437 139741437 C A het . 17 +intergenic PARP12(dist=5285),KDM7A(dist=15740) chr7 139768806 139768806 T C het . 4 +intergenic KDM7A-DT(dist=70552),SLC37A3(dist=83560) chr7 139949992 139949992 A G het . 2 +intergenic KDM7A-DT(dist=86774),SLC37A3(dist=67338) chr7 139966214 139966214 - A het . 3 +intergenic KDM7A-DT(dist=107632),SLC37A3(dist=46480) chr7 139987072 139987072 C T het . 3 +intergenic KDM7A-DT(dist=140473),SLC37A3(dist=13639) chr7 140019913 140019913 G A het . 1 +intronic SLC37A3 chr7 140036617 140036617 A G het . 3 +intronic SLC37A3 chr7 140040744 140040744 T G het . 1 +intronic SLC37A3 chr7 140042478 140042478 A - het . 4 +exonic SLC37A3 chr7 140043308 140043308 C A het . 24 +intronic SLC37A3 chr7 140051629 140051629 A G het . 7 +intronic SLC37A3 chr7 140075567 140075567 G T het . 7 +intronic RAB19 chr7 140110500 140110500 C - het . 4 +intronic MKRN1 chr7 140173011 140173012 AA - het . 7 +intergenic MKRN1(dist=12834),DENND2A(dist=26016) chr7 140192203 140192203 T C het . 3 +intergenic MKRN1(dist=12847),DENND2A(dist=26003) chr7 140192216 140192216 G A het . 4 +intergenic MKRN1(dist=12869),DENND2A(dist=25981) chr7 140192238 140192238 - AAAG het . 2 +intergenic MKRN1(dist=19726),DENND2A(dist=19123) chr7 140199095 140199096 TC - het . 4 +intergenic MKRN1(dist=29134),DENND2A(dist=9716) chr7 140208503 140208503 C T het . 3 +intergenic MKRN1(dist=29207),DENND2A(dist=9643) chr7 140208576 140208576 G A het . 3 +intergenic MKRN1(dist=29814),DENND2A(dist=9035) chr7 140209183 140209184 GT TC het . 2 +intronic DENND2A chr7 140221929 140221929 G A het . 11 +intronic DENND2A chr7 140232689 140232689 - GAGGCACAGT het . 7 +intronic DENND2A chr7 140242922 140242922 T - het . 4 +intronic DENND2A chr7 140242927 140242927 T C het . 4 +exonic DENND2A chr7 140244560 140244560 C T het . 29 +intronic DENND2A chr7 140250469 140250469 T G het . 3 +intronic DENND2A chr7 140250473 140250473 G C het . 2 +exonic DENND2A chr7 140301670 140301670 C A het . 37 +intronic DENND2A chr7 140313381 140313381 C T het . 4 +intronic DENND2A chr7 140324168 140324174 CAACAAC - het . 2 +intronic ADCK2 chr7 140376821 140376821 - CAAA het . 5 +exonic ADCK2 chr7 140379029 140379029 C G het . 40 +intronic ADCK2 chr7 140380434 140380434 T G het . 2 +exonic ADCK2 chr7 140389517 140389517 C A het . 12 +ncRNA_exonic NDUFB2-AS1 chr7 140395554 140395554 - T het . 17 +UTR3 BRAF(NM_001354609:c.*37T>C) chr7 140426257 140426257 A G het . 25 +intronic BRAF chr7 140434598 140434600 AAA - het . 11 +intronic BRAF chr7 140434612 140434614 AAG - het . 11 +intronic BRAF chr7 140434620 140434620 A G het . 21 +exonic BRAF chr7 140453136 140453136 A T het . 66 +intronic BRAF chr7 140463297 140463297 T C het . 2 +intronic BRAF chr7 140477006 140477006 A - het . 19 +intronic BRAF chr7 140477006 140477006 A T het . 21 +intronic BRAF chr7 140552176 140552176 A G het . 1 +intronic BRAF chr7 140579535 140579535 T - het . 2 +intronic BRAF chr7 140619317 140619317 A C het . 4 +intergenic BRAF(dist=11205),MRPS33(dist=70028) chr7 140635933 140635933 - AAAATA het . 3 +intergenic BRAF(dist=26635),MRPS33(dist=54598) chr7 140651363 140651363 A - het . 3 +intergenic BRAF(dist=34913),MRPS33(dist=46320) chr7 140659641 140659641 T A het . 2 +intergenic BRAF(dist=44276),MRPS33(dist=36957) chr7 140669004 140669004 A T het . 4 +intergenic BRAF(dist=53364),MRPS33(dist=27866) chr7 140678092 140678095 TTTG - het . 3 +intergenic BRAF(dist=57249),MRPS33(dist=23984) chr7 140681977 140681977 C G het . 3 +intergenic BRAF(dist=77471),MRPS33(dist=3762) chr7 140702199 140702199 - TCT het . 19 +downstream MRPS33(dist=799) chr7 140705162 140705162 A T het . 2 +intronic MRPS33 chr7 140714283 140714283 T G het . 2 +intergenic MRPS33(dist=1409),TMEM178B(dist=57842) chr7 140716190 140716190 T C het . 2 +intergenic MRPS33(dist=1765),TMEM178B(dist=57486) chr7 140716546 140716546 G A het . 1 +intronic TMEM178B chr7 140823118 140823118 G A het . 2 +intronic TMEM178B chr7 140849341 140849343 CAA - het . 2 +intronic TMEM178B chr7 140923630 140923630 T C het . 3 +intronic TMEM178B chr7 140944612 140944612 G T het . 3 +intronic TMEM178B chr7 140954517 140954517 G T het . 4 +intronic TMEM178B chr7 140966969 140966969 G A het . 2 +intronic TMEM178B chr7 140966973 140966973 G A het . 1 +intronic TMEM178B chr7 140989557 140989557 G T het . 5 +intronic TMEM178B chr7 141021942 141021942 T C het . 2 +intronic TMEM178B chr7 141128185 141128185 G A het . 2 +intronic TMEM178B chr7 141148209 141148209 C G het . 2 +intergenic TMEM178B(dist=6471),AGK(dist=64560) chr7 141186650 141186650 C T het . 2 +intergenic TMEM178B(dist=10988),AGK(dist=60043) chr7 141191167 141191167 C T het . 3 +intergenic TMEM178B(dist=16485),AGK(dist=54546) chr7 141196664 141196664 T C het . 3 +intergenic TMEM178B(dist=16508),AGK(dist=54523) chr7 141196687 141196687 A C het . 1 +intergenic TMEM178B(dist=20622),AGK(dist=50409) chr7 141200801 141200801 T C het . 2 +intergenic TMEM178B(dist=49588),AGK(dist=21443) chr7 141229767 141229767 A - het . 2 +intergenic TMEM178B(dist=57131),AGK(dist=13896) chr7 141237310 141237314 AAAGA - het . 2 +UTR3 KIAA1147(NM_001080392:c.*25A>G) chr7 141362431 141362431 T C het . 3 +ncRNA_intronic WEE2-AS1 chr7 141437937 141437937 - TTCCAAACTTGAAACC het . 2 +intronic SSBP1 chr7 141442077 141442077 C A het . 35 +exonic TAS2R3 chr7 141464586 141464586 C A het . 38 +exonic TAS2R3 chr7 141464853 141464853 C A het . 34 +exonic TAS2R4 chr7 141478824 141478824 T C het . 42 +exonic TAS2R5 chr7 141490297 141490297 C A het . 50 +intronic PRSS37 chr7 141537938 141537940 ATC - het . 18 +intergenic PRSS37(dist=19445),OR9A4(dist=58010) chr7 141560666 141560666 C T het . 1 +intergenic PRSS37(dist=60302),OR9A4(dist=17153) chr7 141601523 141601523 C A het . 1 +intergenic PRSS37(dist=60310),OR9A4(dist=17145) chr7 141601531 141601531 G A het . 1 +intronic CLEC5A chr7 141630915 141630915 C A het . 2 +intronic CLEC5A chr7 141635538 141635538 - A het . 13 +intronic CLEC5A chr7 141640270 141640270 C A het . 2 +intronic MGAM chr7 141727680 141727680 T - het . 5 +intronic MGAM chr7 141755174 141755174 A G het . 11 +exonic MGAM chr7 141755358 141755358 T C het . 33 +intronic MGAM chr7 141763016 141763016 - A het . 2 +intronic MGAM chr7 141792014 141792014 A C het . 2 +intronic MGAM chr7 141797564 141797564 T C het . 4 +exonic MGAM2 chr7 141875461 141875461 C A het . 35 +intronic MGAM2 chr7 141885945 141885945 T - het . 17 +intronic MGAM2 chr7 141899661 141899661 T - het . 13 +intronic MGAM2 chr7 141914195 141914195 A G het . 2 +exonic MGAM2 chr7 141921001 141921001 C A het . 49 +ncRNA_intronic MOXD2P chr7 141946320 141946320 T C het . 2 +ncRNA_intronic MOXD2P chr7 141946332 141946332 T G het . 1 +upstream PRSS58(dist=600) chr7 141958478 141958478 G A het . 1 +intergenic PRSS58(dist=7436),TRY2P(dist=2787) chr7 141965314 141965314 A G het . 3 +upstream TRY2P(dist=888) chr7 141972956 141972956 T G het . 1 +intergenic TRY2P(dist=17486),MTRNR2L6(dist=384577) chr7 141989554 141989554 - A het . 2 +intergenic TRY2P(dist=52316),MTRNR2L6(dist=349747) chr7 142024384 142024384 G A het . 3 +intergenic TRY2P(dist=54879),MTRNR2L6(dist=347184) chr7 142026947 142026947 - T het . 3 +intergenic TRY2P(dist=56040),MTRNR2L6(dist=346023) chr7 142028108 142028108 A C het . 8 +intergenic TRY2P(dist=60283),MTRNR2L6(dist=341780) chr7 142032351 142032351 C G het . 29 +intergenic TRY2P(dist=60305),MTRNR2L6(dist=341757) chr7 142032373 142032374 CC TT het . 31 +intergenic TRY2P(dist=60578),MTRNR2L6(dist=341485) chr7 142032646 142032646 G A het . 2 +intergenic TRY2P(dist=60696),MTRNR2L6(dist=341367) chr7 142032764 142032764 T A het . 2 +intergenic TRY2P(dist=70480),MTRNR2L6(dist=331583) chr7 142042548 142042548 A C het . 3 +intergenic TRY2P(dist=136705),MTRNR2L6(dist=265358) chr7 142108773 142108773 T C het . 2 +intergenic TRY2P(dist=136709),MTRNR2L6(dist=265354) chr7 142108777 142108777 - TA het . 3 +intergenic TRY2P(dist=136740),MTRNR2L6(dist=265323) chr7 142108808 142108808 C G het . 4 +intergenic TRY2P(dist=136759),MTRNR2L6(dist=265304) chr7 142108827 142108827 C T het . 4 +intergenic TRY2P(dist=136766),MTRNR2L6(dist=265297) chr7 142108834 142108834 C G het . 3 +intergenic TRY2P(dist=144118),MTRNR2L6(dist=257944) chr7 142116186 142116187 CA TG het . 4 +intergenic TRY2P(dist=144132),MTRNR2L6(dist=257931) chr7 142116200 142116200 G A het . 4 +intergenic TRY2P(dist=167191),MTRNR2L6(dist=234872) chr7 142139259 142139259 G A het . 1 +intergenic TRY2P(dist=171597),MTRNR2L6(dist=230466) chr7 142143665 142143665 C A het . 25 +intergenic TRY2P(dist=175546),MTRNR2L6(dist=226517) chr7 142147614 142147614 A G het . 1 +intergenic TRY2P(dist=175548),MTRNR2L6(dist=226514) chr7 142147616 142147617 AT CA het . 1 +intergenic TRY2P(dist=190395),MTRNR2L6(dist=211668) chr7 142162463 142162463 C T het . 8 +intergenic TRY2P(dist=190412),MTRNR2L6(dist=211651) chr7 142162480 142162480 C G het . 6 +intergenic TRY2P(dist=190414),MTRNR2L6(dist=211649) chr7 142162482 142162482 T C het . 6 +intergenic TRY2P(dist=204471),MTRNR2L6(dist=197592) chr7 142176539 142176539 G A het . 26 +intergenic TRY2P(dist=208636),MTRNR2L6(dist=193427) chr7 142180704 142180704 G T het . 25 +intergenic TRY2P(dist=209852),MTRNR2L6(dist=192211) chr7 142181920 142181920 A T het . 1 +intergenic TRY2P(dist=209860),MTRNR2L6(dist=192203) chr7 142181928 142181928 C A het . 1 +intergenic TRY2P(dist=218082),MTRNR2L6(dist=183981) chr7 142190150 142190150 A G het . 1 +intergenic TRY2P(dist=218091),MTRNR2L6(dist=183972) chr7 142190159 142190159 A G het . 1 +intergenic TRY2P(dist=220461),MTRNR2L6(dist=181602) chr7 142192529 142192529 G A het . 4 +intergenic TRY2P(dist=229597),MTRNR2L6(dist=172466) chr7 142201665 142201665 C T het . 1 +intergenic TRY2P(dist=229609),MTRNR2L6(dist=172454) chr7 142201677 142201677 C T het . 2 +intergenic TRY2P(dist=234919),MTRNR2L6(dist=167144) chr7 142206987 142206987 C A het . 17 +intergenic TRY2P(dist=259633),MTRNR2L6(dist=142430) chr7 142231701 142231701 G T het . 38 +intergenic TRY2P(dist=259672),MTRNR2L6(dist=142391) chr7 142231740 142231740 T C het . 39 +intergenic TRY2P(dist=262943),MTRNR2L6(dist=139120) chr7 142235011 142235011 A G het . 1 +intergenic TRY2P(dist=276936),MTRNR2L6(dist=125127) chr7 142249004 142249004 T C het . 2 +intergenic TRY2P(dist=372896),MTRNR2L6(dist=29167) chr7 142344964 142344964 C T het . 4 +intergenic TRY2P(dist=392280),MTRNR2L6(dist=9783) chr7 142364348 142364348 C A het . 21 +intergenic MTRNR2L6(dist=4411),PRSS1(dist=77383) chr7 142379936 142379936 G A het . 2 +intergenic MTRNR2L6(dist=66844),PRSS1(dist=14950) chr7 142442369 142442369 C A het . 6 +upstream PRSS1(dist=749) chr7 142456569 142456570 GA - het . 24 +intronic PRSS1 chr7 142459543 142459543 A G het . 20 +intronic PRSS1 chr7 142459550 142459550 G A het . 20 +intronic PRSS1 chr7 142459555 142459555 A C het . 22 +intronic PRSS1 chr7 142459558 142459559 TG AT het . 22 +intronic PRSS1 chr7 142459562 142459562 G A het . 23 +intronic PRSS1 chr7 142459572 142459573 TA GG het . 23 +intronic PRSS1 chr7 142460251 142460252 AC - het . 24 +intronic PRSS1 chr7 142460255 142460255 C - het . 24 +intronic PRSS1 chr7 142460261 142460261 T A het . 28 +intronic PRSS1 chr7 142460690 142460690 - TCTT het . 31 +downstream PRSS1(dist=415) chr7 142461342 142461342 C A het . 2 +downstream PRSS1(dist=471) chr7 142461398 142461398 A G het . 1 +intergenic PRSS1(dist=3876),PRSS3P2(dist=13954) chr7 142464803 142464803 T C het . 2 +intergenic PRSS1(dist=6512),PRSS3P2(dist=11318) chr7 142467439 142467439 T A het . 9 +intergenic PRSS1(dist=6540),PRSS3P2(dist=11290) chr7 142467467 142467467 A G het . 7 +intergenic PRSS1(dist=7262),PRSS3P2(dist=10568) chr7 142468189 142468189 C G het . 16 +intergenic PRSS1(dist=8264),PRSS3P2(dist=9566) chr7 142469191 142469191 G A het . 5 +intergenic PRSS1(dist=9504),PRSS3P2(dist=8326) chr7 142470431 142470431 C A het . 18 +intergenic PRSS1(dist=9647),PRSS3P2(dist=8183) chr7 142470574 142470574 A G het . 3 +intergenic PRSS1(dist=9718),PRSS3P2(dist=8111) chr7 142470645 142470646 TT CC het . 35 +intergenic PRSS1(dist=10441),PRSS3P2(dist=7389) chr7 142471368 142471368 T C het . 10 +intergenic PRSS1(dist=10453),PRSS3P2(dist=7377) chr7 142471380 142471380 C A het . 8 +intergenic PRSS1(dist=10466),PRSS3P2(dist=7363) chr7 142471393 142471394 CA AG het . 8 +intergenic PRSS1(dist=10474),PRSS3P2(dist=7356) chr7 142471401 142471401 A T het . 8 +intergenic PRSS1(dist=10502),PRSS3P2(dist=7328) chr7 142471429 142471429 C G het . 7 +intergenic PRSS1(dist=14270),PRSS3P2(dist=3560) chr7 142475197 142475197 T C het . 3 +intergenic PRSS1(dist=14764),PRSS3P2(dist=3066) chr7 142475691 142475691 T G het . 2 +ncRNA_exonic PRSS3P2 chr7 142481342 142481342 G C het . 13 +ncRNA_exonic PRSS3P2 chr7 142481346 142481346 T C het . 12 +intergenic PRSS3P2(dist=16274),EPHB6(dist=54103) chr7 142498673 142498673 G A het . 5 +intergenic PRSS3P2(dist=16288),EPHB6(dist=54089) chr7 142498687 142498687 T C het . 8 +intergenic PRSS3P2(dist=16300),EPHB6(dist=54077) chr7 142498699 142498699 A G het . 12 +intergenic PRSS3P2(dist=16303),EPHB6(dist=54074) chr7 142498702 142498702 C T het . 12 +intergenic PRSS3P2(dist=16307),EPHB6(dist=54069) chr7 142498706 142498707 TT - het . 14 +intergenic PRSS3P2(dist=16309),EPHB6(dist=54068) chr7 142498708 142498708 - CC het . 14 +intergenic PRSS3P2(dist=16336),EPHB6(dist=54041) chr7 142498735 142498735 A C het . 19 +intergenic PRSS3P2(dist=16339),EPHB6(dist=54038) chr7 142498738 142498738 C G het . 19 +intergenic PRSS3P2(dist=17330),EPHB6(dist=53047) chr7 142499729 142499729 T C het . 24 +intergenic PRSS3P2(dist=17363),EPHB6(dist=53014) chr7 142499762 142499762 A G het . 22 +intergenic PRSS3P2(dist=44865),EPHB6(dist=25512) chr7 142527264 142527264 A - het . 2 +exonic EPHB6 chr7 142566279 142566279 C T het . 44 +exonic TRPV6 chr7 142583330 142583330 A C het . 4 +exonic TRPV5 chr7 142612550 142612550 G T het . 6 +UTR3 LLCFC1(NM_178829:c.*55G>A) chr7 142637729 142637729 G A het . 13 +ncRNA_exonic OR6W1P chr7 142759647 142759647 C T het . 24 +intergenic TAS2R39(dist=17727),TAS2R40(dist=19875) chr7 142899255 142899255 G T het . 2 +ncRNA_intronic LOC105375545 chr7 142961275 142961275 T G het . 13 +exonic CASP2 chr7 142997345 142997345 C A het . 53 +UTR5 CLCN1(NM_000083:c.-21C>T) chr7 143013285 143013285 C T het . 10 +intronic CLCN1 chr7 143024299 143024299 T C het . 2 +intronic CLCN1 chr7 143024952 143024952 T C het . 1 +intronic CLCN1 chr7 143027055 143027055 C T het . 1 +intronic CLCN1 chr7 143029371 143029371 G T het . 19 +intronic CLCN1 chr7 143036552 143036552 A G het . 43 +intronic CLCN1 chr7 143038665 143038667 TAA - het . 2 +intronic CLCN1 chr7 143038692 143038692 T A het . 2 +intronic EPHA1 chr7 143094635 143094635 A - het . 21 +intronic EPHA1 chr7 143094635 143094635 A G het . 22 +ncRNA_intronic EPHA1-AS1 chr7 143124651 143124652 TT - het . 4 +ncRNA_intronic EPHA1-AS1 chr7 143142479 143142479 - CTC het . 4 +ncRNA_intronic EPHA1-AS1 chr7 143179037 143179037 T G het . 2 +ncRNA_intronic EPHA1-AS1 chr7 143203582 143203582 A G het . 1 +ncRNA_intronic EPHA1-AS1 chr7 143214801 143214801 C T het . 2 +intergenic TCAF1(dist=25293),OR2F2(dist=7755) chr7 143624571 143624571 A C het . 1 +downstream OR2F2(dist=18) chr7 143633297 143633297 A G het . 4 +intergenic OR6B1(dist=20944),OR2A5(dist=24526) chr7 143722969 143722969 A G het . 1 +intergenic OR6B1(dist=25098),OR2A5(dist=20372) chr7 143727123 143727123 T C het . 1 +intergenic OR6B1(dist=36652),OR2A5(dist=8818) chr7 143738677 143738677 G A het . 2 +upstream OR2A25(dist=202) chr7 143771111 143771111 T C het . 1 +intergenic OR2A25(dist=4560),OR2A12(dist=15396) chr7 143776805 143776805 C A het . 1 +intergenic OR2A25(dist=5750),OR2A12(dist=14206) chr7 143777995 143777995 A C het . 3 +intergenic OR2A25(dist=5868),OR2A12(dist=14088) chr7 143778113 143778113 G T het . 1 +intergenic OR2A2(dist=8112),OR2A14(dist=10462) chr7 143815744 143815744 T C het . 28 +intergenic OR2A2(dist=8148),OR2A14(dist=10426) chr7 143815780 143815780 G T het . 33 +exonic OR2A14 chr7 143826697 143826697 C G het . 26 +exonic OR2A14 chr7 143826730 143826732 CTT - het . 19 +downstream OR2A14(dist=61) chr7 143827199 143827199 T - het . 3 +intergenic OR2A14(dist=18404),CTAGE4(dist=35006) chr7 143845542 143845542 C T het . 1 +intergenic ARHGEF5(dist=6742),NOBOX(dist=9866) chr7 144084467 144084467 C T het . 2 +intronic NOBOX chr7 144095352 144095352 C A het . 23 +exonic NOBOX chr7 144095600 144095600 A G het . 15 +intergenic NOBOX(dist=2540),TPK1(dist=39174) chr7 144109860 144109860 C A het . 2 +intergenic NOBOX(dist=2563),TPK1(dist=39151) chr7 144109883 144109883 G C het . 2 +intronic TPK1 chr7 144343347 144343347 T - het . 16 +intronic TPK1 chr7 144466120 144466120 T A het . 3 +intergenic TPK1(dist=82307),CNTNAP2(dist=1198000) chr7 144615453 144615453 - AGAA het . 2 +intergenic TPK1(dist=88974),CNTNAP2(dist=1191333) chr7 144622120 144622120 G A het . 3 +intergenic TPK1(dist=89346),CNTNAP2(dist=1190961) chr7 144622492 144622492 T A het . 2 +intergenic TPK1(dist=110543),CNTNAP2(dist=1169764) chr7 144643689 144643689 - T het . 3 +intergenic TPK1(dist=192562),CNTNAP2(dist=1087745) chr7 144725708 144725708 A G het . 1 +intergenic TPK1(dist=213598),CNTNAP2(dist=1066708) chr7 144746744 144746745 TT - het . 3 +intergenic TPK1(dist=266545),CNTNAP2(dist=1013760) chr7 144799691 144799693 CAA - het . 4 +intergenic TPK1(dist=290246),CNTNAP2(dist=990061) chr7 144823392 144823392 C G het . 2 +intergenic TPK1(dist=312637),CNTNAP2(dist=967670) chr7 144845783 144845783 G T het . 2 +intergenic TPK1(dist=319552),CNTNAP2(dist=960755) chr7 144852698 144852698 A G het . 2 +intergenic TPK1(dist=345230),CNTNAP2(dist=935077) chr7 144878376 144878376 A C het . 4 +intergenic TPK1(dist=374337),CNTNAP2(dist=905970) chr7 144907483 144907483 C T het . 1 +intergenic TPK1(dist=374362),CNTNAP2(dist=905945) chr7 144907508 144907508 G T het . 2 +intergenic TPK1(dist=386381),CNTNAP2(dist=893926) chr7 144919527 144919527 A G het . 2 +intergenic TPK1(dist=393401),CNTNAP2(dist=886906) chr7 144926547 144926547 T C het . 2 +intergenic TPK1(dist=415865),CNTNAP2(dist=864442) chr7 144949011 144949011 G A het . 2 +intergenic TPK1(dist=490909),CNTNAP2(dist=789398) chr7 145024055 145024055 G A het . 2 +intergenic TPK1(dist=851941),CNTNAP2(dist=428366) chr7 145385087 145385087 T G het . 2 +intergenic TPK1(dist=1125983),CNTNAP2(dist=154324) chr7 145659129 145659129 T G het . 2 +intergenic TPK1(dist=1152038),CNTNAP2(dist=128269) chr7 145685184 145685184 C A het . 2 +intergenic TPK1(dist=1194924),CNTNAP2(dist=85383) chr7 145728070 145728070 C A het . 2 +intronic CNTNAP2 chr7 146008794 146008794 T G het . 2 +intronic CNTNAP2 chr7 146191444 146191444 T A het . 3 +intronic CNTNAP2 chr7 146191446 146191446 A T het . 3 +intronic CNTNAP2 chr7 146285611 146285612 TT - het . 2 +intronic CNTNAP2 chr7 146308758 146308758 A C het . 2 +intronic CNTNAP2 chr7 146358824 146358824 - TT het . 2 +intronic CNTNAP2 chr7 146360386 146360386 - G het . 3 +intronic CNTNAP2 chr7 146360391 146360391 G A het . 3 +intronic CNTNAP2 chr7 146972254 146972254 G A het . 3 +intronic CNTNAP2 chr7 146997498 146997498 - AAAC het . 10 +intronic CNTNAP2 chr7 147023162 147023162 A C het . 2 +intronic CNTNAP2 chr7 147023171 147023171 C T het . 2 +intronic CNTNAP2 chr7 147075300 147075300 C T het . 9 +intronic CNTNAP2 chr7 147075316 147075316 C T het . 6 +intronic CNTNAP2 chr7 147093040 147093040 T G het . 3 +intronic CNTNAP2 chr7 147428225 147428225 T C het . 1 +intronic CNTNAP2 chr7 147436087 147436087 C T het . 3 +intronic CNTNAP2 chr7 147574236 147574236 G T het . 2 +intronic CNTNAP2 chr7 147600604 147600604 C A het . 14 +ncRNA_intronic MIR548T chr7 147878403 147878403 T A het . 2 +ncRNA_intronic MIR548T chr7 147914779 147914779 G A het . 6 +ncRNA_intronic MIR548T chr7 147974900 147974900 A G het . 2 +ncRNA_intronic MIR548T chr7 147974921 147974921 - A het . 3 +intronic CNTNAP2 chr7 148106475 148106475 - TT het . 21 +intronic CNTNAP2 chr7 148106477 148106477 - TG het . 21 +exonic CNTNAP2 chr7 148106490 148106490 G A het . 23 +intergenic CNTNAP2(dist=32944),C7orf33(dist=136625) chr7 148151032 148151032 T C het . 2 +intergenic C7orf33(dist=10647),CUL1(dist=72334) chr7 148323599 148323599 T C het . 2 +intronic CUL1 chr7 148494795 148494795 T - het . 5 +UTR3 EZH2(NM_001203248:c.*21delC,NM_001203247:c.*21delC,NM_152998:c.*21delC,NM_001203249:c.*21delC,NM_004456:c.*21delC) chr7 148504717 148504717 G - het . 13 +intronic EZH2 chr7 148506064 148506064 A G het . 2 +intronic EZH2 chr7 148543694 148543694 A - het . 11 +intergenic EZH2(dist=53448),GHET1(dist=49730) chr7 148634889 148634889 - A het . 3 +intergenic EZH2(dist=81529),GHET1(dist=21649) chr7 148662970 148662970 T - het . 2 +intergenic PDIA4(dist=25428),ZNF786(dist=15523) chr7 148751210 148751210 A C het . 5 +intronic ZNF398 chr7 148858916 148858916 G A het . 5 +intronic ZNF398 chr7 148860290 148860290 G T het . 2 +intronic ZNF398 chr7 148866173 148866173 T C het . 2 +UTR3 ZNF398(NM_020781:c.*3142G>A,NM_170686:c.*3142G>A) chr7 148880035 148880035 G A het . 2 +downstream ZNF398(dist=181) chr7 148880299 148880299 - TCTC het . 2 +intronic ZNF282 chr7 148909687 148909687 C T het . 5 +intronic ZNF282 chr7 148909715 148909715 C A het . 5 +intronic ZNF282 chr7 148912287 148912287 A T het . 4 +intergenic LOC155060(dist=37278),ZNF777(dist=96773) chr7 149031681 149031681 A G het . 49 +intergenic LOC155060(dist=74740),ZNF777(dist=59311) chr7 149069143 149069143 G A het . 2 +intergenic LOC155060(dist=74754),ZNF777(dist=59297) chr7 149069157 149069157 G A het . 2 +ncRNA_intronic ZNF767P chr7 149298154 149298154 C T het . 2 +ncRNA_intronic ZNF767P chr7 149317216 149317216 A G het . 2 +intergenic ZNF767P(dist=89067),KRBA1(dist=1154) chr7 149410948 149410948 A T het . 1 +intronic SSPO chr7 149485754 149485754 T G het . 15 +intronic SSPO chr7 149486574 149486574 G C het . 4 +exonic SSPO chr7 149499005 149499005 G C het . 23 +exonic SSPO chr7 149523195 149523195 C G het . 8 +exonic ZNF862 chr7 149561293 149561293 G A het . 24 +UTR3 ATP6V0E2(NM_145230:c.*414A>G,NM_001100592:c.*52A>G,NM_001289990:c.*52A>G) chr7 149576818 149576818 A G het . 1 +intronic ACTR3C chr7 149586597 149586597 A T het . 1 +intronic GIMAP8 chr7 150152927 150152927 G A het . 2 +intronic GIMAP8 chr7 150168058 150168058 - GAAT het . 13 +intergenic GIMAP8(dist=33160),GIMAP7(dist=2299) chr7 150209643 150209646 CTAG - het . 9 +intergenic GIMAP8(dist=33894),GIMAP7(dist=1568) chr7 150210377 150210377 G T het . 15 +intronic GIMAP2 chr7 150384048 150384048 - AAAG het . 3 +exonic GIMAP1-GIMAP5 chr7 150434689 150434689 C T het . 20 +intronic TMEM176B chr7 150488840 150488840 - A het . 7 +exonic TMEM176A chr7 150498809 150498809 G A het . 9 +intronic TMEM176A chr7 150498836 150498836 C G het . 9 +intergenic TMEM176A(dist=35572),AOC1(dist=11785) chr7 150537780 150537780 G T het . 1 +intergenic AOC1(dist=69465),KCNH2(dist=14200) chr7 150627844 150627844 T A het . 3 +exonic KCNH2 chr7 150645534 150645534 T G het . 17 +intronic KCNH2 chr7 150654307 150654307 A C het . 11 +intronic NOS3 chr7 150693834 150693834 A C het . 10 +intronic NOS3 chr7 150697525 150697525 C G het . 3 +intronic NOS3 chr7 150697529 150697529 A C het . 3 +intronic NOS3 chr7 150703915 150703915 G T het . 3 +exonic NOS3 chr7 150709441 150709441 C A het . 12 +exonic ATG9B chr7 150715817 150715817 A G het . 14 +exonic SLC4A2 chr7 150763968 150763968 G A het . 10 +intronic AGAP3 chr7 150784317 150784317 G A het . 4 +intronic ABCF2 chr7 150916115 150916117 AGG - het . 14 +intronic ABCF2 chr7 150916138 150916138 C A het . 21 +intronic SMARCD3 chr7 150937377 150937377 - G het . 11 +intronic NUB1 chr7 151045550 151045550 C A het . 1 +intronic NUB1 chr7 151045565 151045565 T C het . 2 +intronic NUB1 chr7 151047510 151047510 A G het . 3 +intronic NUB1 chr7 151049025 151049025 T C het . 4 +intronic NUB1 chr7 151052699 151052699 T C het . 2 +intronic NUB1 chr7 151061519 151061519 A - het . 3 +intronic NUB1 chr7 151061539 151061539 A C het . 3 +intronic NUB1 chr7 151072064 151072064 A G het . 2 +intronic RHEB chr7 151167836 151167836 C A het . 10 +intronic PRKAG2 chr7 151263800 151263801 AA - het . 9 +intronic PRKAG2 chr7 151267237 151267237 - A het . 26 +intronic PRKAG2 chr7 151273595 151273595 T - het . 26 +intronic PRKAG2 chr7 151353224 151353224 T A het . 1 +intronic PRKAG2 chr7 151439721 151439721 A T het . 2 +intronic PRKAG2 chr7 151444775 151444775 T G het . 2 +intronic PRKAG2 chr7 151465608 151465608 C G het . 2 +intronic PRKAG2 chr7 151483445 151483445 A G het . 13 +exonic LOC644090 chr7 151504019 151504019 T C het . 19 +exonic LOC644090 chr7 151504031 151504031 A - het . 21 +exonic LOC644090 chr7 151504499 151504499 G A het . 15 +intergenic PRKAG2-AS1(dist=47582),GALNTL5(dist=29574) chr7 151623890 151623890 C A het . 3 +intronic GALNTL5 chr7 151668225 151668225 A T het . 9 +intronic GALNTL5 chr7 151672604 151672604 G T het . 3 +intronic GALNTL5 chr7 151672609 151672609 G A het . 3 +intronic KMT2C chr7 151919160 151919160 A - het . 10 +intronic KMT2C chr7 151932819 151932819 T A het . 5 +intronic KMT2C chr7 151971448 151971448 G - het . 3 +intronic KMT2C chr7 151971455 151971456 AC - het . 3 +intronic KMT2C chr7 151973695 151973695 G A het . 2 +intronic KMT2C chr7 151975844 151975844 C A het . 2 +intronic KMT2C chr7 151976018 151976018 A G het . 2 +intronic KMT2C chr7 151979641 151979641 A G het . 2 +intronic KMT2C chr7 151979672 151979672 - T het . 2 +intronic KMT2C chr7 152074545 152074545 T C het . 2 +intronic KMT2C chr7 152074547 152074547 C T het . 2 +intronic KMT2C chr7 152074555 152074555 C A het . 2 +intronic KMT2C chr7 152080201 152080201 C T het . 3 +intronic KMT2C chr7 152099571 152099571 C G het . 4 +intronic KMT2C chr7 152099575 152099575 C T het . 4 +intronic KMT2C chr7 152099620 152099620 T G het . 3 +intronic KMT2C chr7 152099761 152099761 A T het . 4 +intronic KMT2C chr7 152099781 152099781 C G het . 2 +intronic KMT2C chr7 152099989 152099989 T A het . 2 +intronic KMT2C chr7 152100054 152100057 ACAT - het . 2 +intronic KMT2C chr7 152100145 152100145 C T het . 2 +intronic KMT2C chr7 152100221 152100221 C - het . 1 +intronic KMT2C chr7 152100224 152100224 A T het . 1 +intronic KMT2C chr7 152100255 152100255 C T het . 2 +intronic KMT2C chr7 152100545 152100545 T C het . 7 +intronic KMT2C chr7 152100575 152100575 C A het . 8 +intronic KMT2C chr7 152100591 152100591 T A het . 8 +intronic KMT2C chr7 152100594 152100594 C G het . 8 +intronic KMT2C chr7 152100609 152100609 G C het . 7 +intronic KMT2C chr7 152100637 152100638 AG CA het . 7 +intronic KMT2C chr7 152100658 152100658 C A het . 6 +intronic KMT2C chr7 152101138 152101138 A G het . 4 +intronic KMT2C chr7 152101243 152101243 - TA het . 4 +intronic KMT2C chr7 152101246 152101247 TG - het . 4 +intronic KMT2C chr7 152101261 152101261 - TT het . 3 +intronic KMT2C chr7 152101264 152101265 CA - het . 3 +intronic KMT2C chr7 152101298 152101298 C T het . 2 +intronic KMT2C chr7 152101300 152101300 T C het . 2 +intronic KMT2C chr7 152101326 152101326 A G het . 1 +intronic KMT2C chr7 152101372 152101372 - TTTAG het . 1 +intronic KMT2C chr7 152101378 152101378 T C het . 1 +intronic KMT2C chr7 152101382 152101382 T C het . 1 +intronic KMT2C chr7 152101862 152101862 T C het . 3 +intronic KMT2C chr7 152101897 152101897 T C het . 3 +intronic KMT2C chr7 152101908 152101908 C T het . 3 +intronic KMT2C chr7 152101947 152101947 G C het . 3 +intronic KMT2C chr7 152102081 152102081 G A het . 5 +intronic KMT2C chr7 152102124 152102124 T C het . 3 +intronic KMT2C chr7 152102138 152102138 A G het . 3 +intronic KMT2C chr7 152102227 152102227 A G het . 4 +intronic KMT2C chr7 152103074 152103075 AG - het . 3 +intronic KMT2C chr7 152103290 152103290 G A het . 2 +intronic KMT2C chr7 152103409 152103409 T C het . 3 +intronic KMT2C chr7 152103464 152103464 C G het . 5 +intronic KMT2C chr7 152103843 152103843 C T het . 1 +intronic KMT2C chr7 152103885 152103885 A C het . 3 +intronic KMT2C chr7 152103887 152103890 AAAG - het . 3 +intronic KMT2C chr7 152103923 152103923 - G het . 3 +intronic KMT2C chr7 152104134 152104134 G A het . 2 +intronic KMT2C chr7 152104215 152104215 T C het . 3 +intronic KMT2C chr7 152104221 152104221 A - het . 3 +intronic KMT2C chr7 152104246 152104246 T C het . 3 +intronic KMT2C chr7 152104255 152104255 T C het . 3 +intronic KMT2C chr7 152104260 152104260 T C het . 3 +intronic KMT2C chr7 152104291 152104291 T C het . 4 +intronic KMT2C chr7 152104360 152104360 A G het . 5 +intronic KMT2C chr7 152104380 152104380 A G het . 3 +intronic KMT2C chr7 152104382 152104382 C T het . 3 +intronic KMT2C chr7 152104420 152104420 C T het . 2 +intronic KMT2C chr7 152104782 152104784 AAA - het . 3 +intronic KMT2C chr7 152104828 152104828 C T het . 3 +intronic KMT2C chr7 152104838 152104838 T A het . 3 +intronic KMT2C chr7 152105381 152105381 A - het . 3 +intronic KMT2C chr7 152105391 152105391 A G het . 3 +intronic KMT2C chr7 152105401 152105401 A C het . 4 +intronic KMT2C chr7 152105877 152105877 A G het . 5 +intronic KMT2C chr7 152105900 152105909 AAAAAAAAAA - het . 5 +intronic KMT2C chr7 152105989 152105989 C T het . 2 +intronic KMT2C chr7 152106123 152106123 G A het . 1 +intronic KMT2C chr7 152106273 152106273 T G het . 2 +intronic KMT2C chr7 152106279 152106279 T A het . 2 +intronic KMT2C chr7 152106417 152106417 T C het . 2 +intronic KMT2C chr7 152106429 152106429 T G het . 4 +intronic KMT2C chr7 152106966 152106966 C T het . 2 +intronic KMT2C chr7 152106971 152106972 CA - het . 2 +intronic KMT2C chr7 152107087 152107087 G A het . 4 +intronic KMT2C chr7 152107143 152107143 T C het . 5 +intronic KMT2C chr7 152107267 152107267 T C het . 2 +intronic KMT2C chr7 152107280 152107280 A - het . 2 +intronic KMT2C chr7 152107282 152107282 G A het . 2 +intronic KMT2C chr7 152107883 152107883 G A het . 3 +intronic KMT2C chr7 152107907 152107907 C T het . 6 +intronic KMT2C chr7 152107966 152107966 A G het . 4 +intronic KMT2C chr7 152108421 152108421 G C het . 5 +intronic KMT2C chr7 152108446 152108446 - T het . 3 +intronic KMT2C chr7 152108894 152108894 G A het . 4 +intronic KMT2C chr7 152108897 152108897 C T het . 4 +intronic KMT2C chr7 152108933 152108933 T A het . 2 +intronic KMT2C chr7 152109005 152109005 G T het . 1 +intronic KMT2C chr7 152109139 152109139 C T het . 2 +intronic KMT2C chr7 152109215 152109215 G A het . 2 +intronic KMT2C chr7 152109245 152109245 A G het . 2 +intronic KMT2C chr7 152109550 152109550 T G het . 5 +intronic KMT2C chr7 152109634 152109634 G A het . 4 +intronic KMT2C chr7 152109720 152109720 G A het . 5 +intronic KMT2C chr7 152109731 152109731 A - het . 5 +intronic KMT2C chr7 152109734 152109734 G C het . 4 +intronic KMT2C chr7 152109744 152109744 T C het . 3 +intronic KMT2C chr7 152109768 152109768 A G het . 3 +intronic KMT2C chr7 152109784 152109784 A G het . 3 +intronic KMT2C chr7 152109787 152109787 C A het . 2 +intronic KMT2C chr7 152109839 152109839 T C het . 3 +intronic KMT2C chr7 152109851 152109851 T G het . 2 +intronic KMT2C chr7 152109853 152109853 - GA het . 2 +intronic KMT2C chr7 152109975 152109975 A C het . 2 +intronic KMT2C chr7 152110583 152110583 C T het . 1 +intronic KMT2C chr7 152110606 152110606 - TGTAA het . 3 +intronic KMT2C chr7 152110622 152110622 C T het . 4 +intronic KMT2C chr7 152110676 152110676 A G het . 2 +intronic KMT2C chr7 152110965 152110965 C T het . 4 +intronic KMT2C chr7 152110971 152110974 AAAA - het . 4 +intronic KMT2C chr7 152110995 152110995 G C het . 4 +intronic KMT2C chr7 152111550 152111550 T G het . 2 +intronic KMT2C chr7 152111589 152111589 G T het . 4 +intronic KMT2C chr7 152111608 152111609 TG CA het . 4 +intronic KMT2C chr7 152111633 152111633 C A het . 4 +intronic KMT2C chr7 152111635 152111635 G C het . 3 +intronic KMT2C chr7 152111876 152111876 T C het . 3 +intronic KMT2C chr7 152111933 152111935 TTC - het . 3 +intronic KMT2C chr7 152111973 152111973 T C het . 2 +intronic KMT2C chr7 152111981 152111981 T A het . 2 +intronic KMT2C chr7 152112314 152112314 C T het . 1 +intronic KMT2C chr7 152112478 152112478 T G het . 2 +intronic KMT2C chr7 152112626 152112626 C T het . 2 +intronic KMT2C chr7 152112637 152112637 C T het . 1 +intronic KMT2C chr7 152113067 152113067 A T het . 2 +intronic KMT2C chr7 152113074 152113074 C T het . 2 +intronic KMT2C chr7 152113142 152113142 A G het . 2 +intronic KMT2C chr7 152113192 152113192 G A het . 2 +intronic KMT2C chr7 152113354 152113354 G A het . 2 +intronic KMT2C chr7 152113357 152113357 G C het . 2 +intronic KMT2C chr7 152113360 152113360 A G het . 2 +intergenic FABP5P3(dist=4104),LINC01003(dist=17005) chr7 152144204 152144204 A - het . 3 +intergenic LINC01003(dist=174645),XRCC2(dist=6312) chr7 152337275 152337275 T C het . 2 +intronic ACTR3B chr7 152550499 152550499 T C het . 1 +intergenic ACTR3B(dist=267317),LINC01287(dist=277223) chr7 152819781 152819781 C T het . 1 +intergenic LINC01287(dist=219241),DPP6(dist=116658) chr7 153328560 153328560 T C het . 2 +intergenic LINC01287(dist=227288),DPP6(dist=108611) chr7 153336607 153336607 C T het . 2 +intergenic LINC01287(dist=227293),DPP6(dist=108606) chr7 153336612 153336612 - CTGTC het . 2 +intronic DPP6 chr7 153576094 153576094 A T het . 2 +intronic DPP6 chr7 153596311 153596311 C T het . 3 +intronic DPP6 chr7 153601721 153601721 A G het . 1 +intronic DPP6 chr7 153603763 153603763 T C het . 2 +intronic DPP6 chr7 154075809 154075809 G A het . 3 +intronic DPP6 chr7 154075819 154075819 G A het . 2 +intronic DPP6 chr7 154176665 154176665 - AAAA het . 2 +intronic DPP6 chr7 154388275 154388275 A - het . 2 +intronic DPP6 chr7 154431960 154431960 - AAACAA het . 3 +intronic DPP6 chr7 154504369 154504369 A G het . 2 +intronic DPP6 chr7 154587507 154587507 G A het . 11 +exonic PAXIP1 chr7 154760369 154760369 A G het . 24 +ncRNA_intronic HTR5A-AS1 chr7 154862508 154862508 A G het . 1 +intergenic HTR5A(dist=29182),INSIG1(dist=181198) chr7 154908284 154908284 A G het . 1 +intergenic HTR5A(dist=29185),INSIG1(dist=181195) chr7 154908287 154908287 A G het . 1 +intergenic HTR5A(dist=51193),INSIG1(dist=159180) chr7 154930295 154930302 TTTATTTA - het . 2 +intergenic HTR5A(dist=82981),INSIG1(dist=127399) chr7 154962083 154962083 C T het . 2 +intergenic HTR5A(dist=109952),INSIG1(dist=100428) chr7 154989054 154989054 C T het . 28 +intergenic HTR5A(dist=110844),INSIG1(dist=99536) chr7 154989946 154989946 A C het . 4 +intergenic HTR5A(dist=111074),INSIG1(dist=99306) chr7 154990176 154990176 C A het . 1 +intergenic HTR5A(dist=152280),INSIG1(dist=58100) chr7 155031382 155031382 A G het . 6 +intergenic HTR5A(dist=152552),INSIG1(dist=57828) chr7 155031654 155031654 C A het . 5 +intergenic INSIG1(dist=8052),BLACE(dist=39686) chr7 155109997 155109997 A G het . 2 +ncRNA_exonic BLACE chr7 155150811 155150811 C T het . 15 +intergenic LOC100286906(dist=26487),EN2(dist=29860) chr7 155220964 155220964 A C het . 1 +intronic CNPY1 chr7 155295805 155295806 AA - het . 25 +intronic CNPY1 chr7 155321755 155321755 - AA het . 1 +intergenic CNPY1(dist=52827),LOC100506302(dist=55244) chr7 155379366 155379366 G A het . 2 +intronic RBM33 chr7 155465422 155465422 C G het . 4 +intronic RBM33 chr7 155465439 155465442 AAAA - het . 3 +intronic RBM33 chr7 155472852 155472852 A G het . 1 +intronic RBM33 chr7 155502101 155502101 C A het . 3 +exonic RBM33 chr7 155503920 155503920 A T het . 5 +exonic SHH chr7 155599417 155599417 C T het . 4 +intergenic SHH(dist=110783),LOC389602(dist=39576) chr7 155715750 155715750 A G het . 1 +exonic LOC389602 chr7 155757502 155757502 T C het . 2 +intergenic LOC389602(dist=73266),LOC285889(dist=396132) chr7 155834351 155834351 C A het . 1 +intergenic LOC389602(dist=109425),LOC285889(dist=359973) chr7 155870510 155870510 G A het . 1 +intergenic LOC389602(dist=202535),LOC285889(dist=266863) chr7 155963620 155963620 C T het . 1 +intergenic LOC389602(dist=252060),LOC285889(dist=217338) chr7 156013145 156013145 A - het . 2 +intergenic LOC389602(dist=292073),LOC285889(dist=177325) chr7 156053158 156053158 - AATA het . 4 +intergenic LOC389602(dist=386885),LOC285889(dist=82513) chr7 156147970 156147970 C T het . 1 +intergenic LOC389602(dist=440625),LOC285889(dist=28773) chr7 156201710 156201710 T C het . 2 +intergenic LOC285889(dist=14444),LINC01006(dist=12067) chr7 156252726 156252726 G A het . 1 +ncRNA_intronic LINC01006 chr7 156270725 156270725 A G het . 1 +ncRNA_intronic LINC01006 chr7 156322932 156322932 A - het . 1 +UTR3 LMBR1(NM_001363413:c.*2992delT,NM_022458:c.*2992delT,NM_001363411:c.*2992delT,NM_001363410:c.*2992delT,NM_001363409:c.*2992delT,NM_001350956:c.*2992delT,NM_001350953:c.*2992delT,NM_001350955:c.*2992delT,NM_001350957:c.*2992delT,NM_001350954:c.*2992delT,NM_001363412:c.*2992delT,NM_001350958:c.*2992delT) chr7 156473780 156473780 A - het . 8 +intronic LMBR1 chr7 156627296 156627296 - A het . 12 +intronic NOM1 chr7 156746727 156746727 T C het . 6 +intronic NOM1 chr7 156759598 156759602 TATAT - het . 16 +intronic NOM1 chr7 156761913 156761913 C T het . 12 +intergenic NOM1(dist=3169),MNX1(dist=28502) chr7 156769045 156769045 C T het . 4 +ncRNA_intronic MNX1-AS2 chr7 156799364 156799364 C T het . 8 +intronic UBE3C chr7 156932105 156932105 C T het . 6 +intronic UBE3C chr7 156967436 156967436 C A het . 2 +intronic UBE3C chr7 156985635 156985635 C A het . 10 +exonic UBE3C chr7 157016001 157016001 C T het . 13 +intronic UBE3C chr7 157047091 157047091 - ATTA het . 10 +intronic UBE3C chr7 157047095 157047095 T A het . 10 +intronic UBE3C chr7 157047097 157047097 - TTA het . 10 +intronic UBE3C chr7 157049530 157049530 T G het . 5 +intergenic UBE3C(dist=13974),DNAJB6(dist=53657) chr7 157076040 157076041 AA - het . 3 +intergenic UBE3C(dist=13980),DNAJB6(dist=53652) chr7 157076046 157076046 A C het . 3 +intronic DNAJB6 chr7 157159895 157159895 A G het . 7 +intronic PTPRN2 chr7 157333542 157333542 C T het . 6 +intronic PTPRN2 chr7 157341557 157341557 C - het . 5 +intronic PTPRN2 chr7 157367205 157367205 - GA het . 3 +intronic PTPRN2 chr7 157406819 157406819 A C het . 4 +intronic PTPRN2 chr7 157753629 157753629 G A het . 2 +intronic PTPRN2 chr7 157784728 157784728 G A het . 2 +intronic PTPRN2 chr7 157784733 157784733 G A het . 2 +intronic PTPRN2 chr7 157832769 157832769 G - het . 4 +intronic PTPRN2 chr7 158102815 158102815 G A het . 3 +intronic PTPRN2 chr7 158102847 158102847 A G het . 3 +intronic PTPRN2 chr7 158111323 158111323 A G het . 2 +intronic PTPRN2 chr7 158139966 158139966 G A het . 1 +intronic PTPRN2 chr7 158159297 158159297 G A het . 2 +intronic PTPRN2 chr7 158208572 158208572 C G het . 2 +intronic PTPRN2 chr7 158277428 158277428 A T het . 3 +intronic PTPRN2 chr7 158277432 158277432 C G het . 3 +intronic PTPRN2 chr7 158325310 158325310 - AA het . 11 +intronic PTPRN2 chr7 158325316 158325316 C A het . 11 +intronic PTPRN2 chr7 158325338 158325338 G A het . 8 +intergenic LINC01022(dist=3320),NCAPG2(dist=35916) chr7 158387945 158387945 G A het . 1 +intergenic LINC01022(dist=3356),NCAPG2(dist=35880) chr7 158387981 158387981 G A het . 1 +intergenic LINC01022(dist=25967),NCAPG2(dist=13269) chr7 158410592 158410592 G T het . 1 +intergenic LINC01022(dist=31378),NCAPG2(dist=7858) chr7 158416003 158416003 T C het . 18 +intronic NCAPG2 chr7 158442421 158442421 G A het . 1 +intronic NCAPG2 chr7 158461275 158461275 C T het . 2 +intronic NCAPG2 chr7 158490780 158490780 T C het . 2 +intronic ESYT2 chr7 158528158 158528158 C G het . 16 +intronic ESYT2 chr7 158528170 158528170 G A het . 19 +intronic ESYT2 chr7 158536388 158536388 A C het . 4 +intronic ESYT2 chr7 158542905 158542905 C T het . 1 +intronic ESYT2 chr7 158545612 158545612 A G het . 7 +intronic ESYT2 chr7 158587072 158587072 C A het . 2 +intronic ESYT2 chr7 158587095 158587095 A C het . 2 +intronic ESYT2 chr7 158593392 158593392 A T het . 3 +intronic WDR60 chr7 158662511 158662511 - TTTAAAC het . 13 +intronic WDR60 chr7 158677201 158677201 A G het . 12 +intronic WDR60 chr7 158697832 158697835 TTTT - het . 15 +intronic WDR60 chr7 158729928 158729928 T C het . 3 +downstream VIPR2(dist=610) chr7 158820256 158820256 G T het . 3 +intronic VIPR2 chr7 158935029 158935029 - TT het . 4 +intergenic VIPR2(dist=11716),NONE(dist=NONE) chr7 158949365 158949365 A T het . 1 +intergenic VIPR2(dist=18891),NONE(dist=NONE) chr7 158956540 158956540 T G het . 2 +intergenic VIPR2(dist=18902),NONE(dist=NONE) chr7 158956551 158956551 A G het . 2 +intergenic VIPR2(dist=50710),NONE(dist=NONE) chr7 158988359 158988359 - A het . 3 +intergenic VIPR2(dist=118195),NONE(dist=NONE) chr7 159055844 159055844 G T het . 2 +ncRNA_exonic RPL23AP53 chr8 161431 161431 C A het . 3 +ncRNA_exonic RPL23AP53 chr8 163303 163304 AT - het . 5 +exonic ZNF596 chr8 195398 195398 C A het . 15 +intronic TDRP chr8 462276 462276 A C het . 4 +UTR3 ERICH1(NM_001303100:c.*111G>C) chr8 566460 566460 C G het . 3 +intronic ERICH1 chr8 566619 566619 A G het . 5 +intronic ERICH1 chr8 623156 623156 G C het . 6 +intronic ERICH1 chr8 636251 636251 A C het . 3 +intronic DLGAP2 chr8 908579 908579 C A het . 2 +intronic DLGAP2 chr8 908582 908582 C A het . 2 +intronic DLGAP2 chr8 935663 935663 C A het . 1 +intronic ARHGEF10 chr8 1806333 1806334 AG GA het . 2 +intronic ARHGEF10 chr8 1851760 1851760 C A het . 11 +exonic ARHGEF10 chr8 1857548 1857548 T C het . 17 +exonic ARHGEF10 chr8 1857591 1857591 G A het . 16 +intronic ARHGEF10 chr8 1857742 1857742 T G het . 4 +intronic ARHGEF10 chr8 1901110 1901110 G C het . 3 +intergenic KBTBD11(dist=36243),MYOM2(dist=1806) chr8 1991352 1991352 T C het . 2 +intronic MYOM2 chr8 2062956 2062956 A - het . 3 +intronic MYOM2 chr8 2062984 2062984 C A het . 3 +intronic MYOM2 chr8 2071306 2071306 A G het . 14 +intronic MYOM2 chr8 2071309 2071309 A T het . 14 +intronic MYOM2 chr8 2091412 2091412 T G het . 18 +intergenic MYOM2(dist=45557),LOC101927815(dist=248282) chr8 2138937 2138937 T C het . 1 +intergenic MYOM2(dist=55170),LOC101927815(dist=238669) chr8 2148550 2148550 G A het . 2 +intergenic MYOM2(dist=55378),LOC101927815(dist=238461) chr8 2148758 2148758 G A het . 10 +intergenic MYOM2(dist=55391),LOC101927815(dist=238448) chr8 2148771 2148771 C T het . 11 +intergenic MYOM2(dist=118324),LOC101927815(dist=175515) chr8 2211704 2211704 A G het . 2 +intergenic MYOM2(dist=118380),LOC101927815(dist=175459) chr8 2211760 2211760 A C het . 2 +intergenic MYOM2(dist=118414),LOC101927815(dist=175425) chr8 2211794 2211794 G A het . 2 +intergenic MYOM2(dist=120373),LOC101927815(dist=173466) chr8 2213753 2213753 C T het . 3 +intergenic MYOM2(dist=121742),LOC101927815(dist=172097) chr8 2215122 2215122 G A het . 2 +intergenic MYOM2(dist=124398),LOC101927815(dist=169441) chr8 2217778 2217778 T C het . 4 +intergenic MYOM2(dist=129305),LOC101927815(dist=164534) chr8 2222685 2222685 C T het . 4 +intergenic MYOM2(dist=129792),LOC101927815(dist=164047) chr8 2223172 2223172 A G het . 4 +intergenic MYOM2(dist=129827),LOC101927815(dist=164012) chr8 2223207 2223207 G A het . 4 +intergenic MYOM2(dist=131560),LOC101927815(dist=162279) chr8 2224940 2224940 - AA het . 2 +intergenic MYOM2(dist=131561),LOC101927815(dist=162278) chr8 2224941 2224941 T A het . 2 +intergenic MYOM2(dist=134055),LOC101927815(dist=159784) chr8 2227435 2227435 G A het . 1 +intergenic MYOM2(dist=147143),LOC101927815(dist=146696) chr8 2240523 2240523 A C het . 5 +intergenic MYOM2(dist=147185),LOC101927815(dist=146654) chr8 2240565 2240565 A T het . 4 +intergenic MYOM2(dist=149496),LOC101927815(dist=144343) chr8 2242876 2242876 T G het . 2 +intergenic MYOM2(dist=153398),LOC101927815(dist=140441) chr8 2246778 2246778 A G het . 1 +intergenic MYOM2(dist=188162),LOC101927815(dist=105677) chr8 2281542 2281542 C A het . 2 +intergenic MYOM2(dist=188186),LOC101927815(dist=105653) chr8 2281566 2281566 A G het . 3 +intergenic MYOM2(dist=284123),LOC101927815(dist=9716) chr8 2377503 2377503 A G het . 2 +intergenic LOC101927815(dist=153543),CSMD1(dist=53341) chr8 2739534 2739534 G A het . 3 +intergenic LOC101927815(dist=153585),CSMD1(dist=53299) chr8 2739576 2739576 G C het . 3 +intergenic LOC101927815(dist=153589),CSMD1(dist=53295) chr8 2739580 2739580 C G het . 3 +intergenic LOC101927815(dist=153593),CSMD1(dist=53291) chr8 2739584 2739584 G C het . 3 +intergenic LOC101927815(dist=156366),CSMD1(dist=50518) chr8 2742357 2742357 - T het . 3 +intergenic LOC101927815(dist=156371),CSMD1(dist=50513) chr8 2742362 2742362 A T het . 3 +intronic CSMD1 chr8 2807678 2807678 C T het . 7 +intronic CSMD1 chr8 2880108 2880108 A T het . 2 +intronic CSMD1 chr8 2961270 2961271 TT AA het . 2 +intronic CSMD1 chr8 3045230 3045230 G A het . 1 +intronic CSMD1 chr8 3138213 3138213 C G het . 2 +intronic CSMD1 chr8 3253939 3253939 A G het . 3 +intronic CSMD1 chr8 3253942 3253942 A G het . 3 +intronic CSMD1 chr8 3263500 3263500 T C het . 5 +intronic CSMD1 chr8 3351094 3351094 G A het . 6 +intronic CSMD1 chr8 3443800 3443800 A - het . 4 +intronic CSMD1 chr8 3443840 3443840 - A het . 5 +intronic CSMD1 chr8 3566106 3566106 T C het . 5 +intronic CSMD1 chr8 3634279 3634279 A C het . 2 +intronic CSMD1 chr8 3794880 3794880 G T het . 2 +intronic CSMD1 chr8 3855302 3855302 G A het . 3 +intronic CSMD1 chr8 3881581 3881581 G C het . 2 +intronic CSMD1 chr8 3881589 3881589 A T het . 1 +intronic CSMD1 chr8 3995388 3995388 A - het . 2 +intronic CSMD1 chr8 3995757 3995757 A G het . 1 +intronic CSMD1 chr8 3995765 3995765 G A het . 2 +intronic CSMD1 chr8 3995772 3995772 C T het . 2 +intronic CSMD1 chr8 4017855 4017855 T C het . 3 +intronic CSMD1 chr8 4163602 4163602 A T het . 1 +intronic CSMD1 chr8 4333219 4333219 - CCC het . 2 +intronic CSMD1 chr8 4373184 4373184 G A het . 2 +intronic CSMD1 chr8 4373202 4373202 G T het . 1 +intronic CSMD1 chr8 4494737 4494737 C - het . 2 +intronic CSMD1 chr8 4494754 4494754 C G het . 4 +intronic CSMD1 chr8 4501939 4501939 T - het . 2 +intronic CSMD1 chr8 4588433 4588433 T - het . 2 +intergenic CSMD1(dist=265371),LOC100287015(dist=1143378) chr8 5117699 5117699 G A het . 2 +intergenic CSMD1(dist=309306),LOC100287015(dist=1099443) chr8 5161634 5161634 A C het . 1 +intergenic CSMD1(dist=390391),LOC100287015(dist=1018358) chr8 5242719 5242719 T C het . 2 +intergenic CSMD1(dist=396346),LOC100287015(dist=1012403) chr8 5248674 5248674 A - het . 2 +intergenic CSMD1(dist=396355),LOC100287015(dist=1012394) chr8 5248683 5248683 G T het . 2 +intergenic CSMD1(dist=472880),LOC100287015(dist=935869) chr8 5325208 5325208 - TTC het . 4 +intergenic CSMD1(dist=905806),LOC100287015(dist=502943) chr8 5758134 5758134 - CAAA het . 4 +intergenic CSMD1(dist=989830),LOC100287015(dist=418919) chr8 5842158 5842158 A C het . 2 +intergenic CSMD1(dist=991486),LOC100287015(dist=417263) chr8 5843814 5843814 C A het . 3 +intergenic CSMD1(dist=1073701),LOC100287015(dist=335048) chr8 5926029 5926029 C T het . 1 +intergenic CSMD1(dist=1229653),LOC100287015(dist=179096) chr8 6081981 6081981 C T het . 2 +intergenic CSMD1(dist=1230447),LOC100287015(dist=178302) chr8 6082775 6082775 A G het . 2 +intergenic CSMD1(dist=1281945),LOC100287015(dist=126804) chr8 6134273 6134273 - TGTT het . 6 +intergenic CSMD1(dist=1296689),LOC100287015(dist=112060) chr8 6149017 6149017 C A het . 1 +intergenic CSMD1(dist=1317754),LOC100287015(dist=90995) chr8 6170082 6170082 G C het . 1 +intergenic CSMD1(dist=1326033),LOC100287015(dist=82716) chr8 6178361 6178361 T C het . 2 +intergenic CSMD1(dist=1329675),LOC100287015(dist=79074) chr8 6182003 6182003 T C het . 2 +UTR5 MCPH1(NM_001322042:c.-59G>C,NM_001172574:c.-59G>C,NM_024596:c.-59G>C,NM_001322043:c.-59G>C,NM_001172575:c.-59G>C) chr8 6264130 6264130 G C het . 8 +intronic MCPH1 chr8 6326912 6326912 C T het . 2 +intronic MCPH1 chr8 6353799 6353799 A C het . 3 +intronic ANGPT2,MCPH1 chr8 6372087 6372087 C A het . 4 +intronic ANGPT2,MCPH1 chr8 6372112 6372112 G A het . 5 +intronic ANGPT2,MCPH1 chr8 6390027 6390027 A G het . 6 +intronic ANGPT2,MCPH1 chr8 6392186 6392186 A G het . 2 +UTR5 ANGPT2(NM_001118887:c.-35G>C,NM_001118888:c.-35G>C,NM_001147:c.-35G>C) chr8 6420490 6420490 C G het . 3 +intronic MCPH1 chr8 6450341 6450341 - T het . 2 +ncRNA_exonic MCPH1-AS1 chr8 6478956 6478956 A G het . 14 +ncRNA_exonic MCPH1-AS1 chr8 6478960 6478960 C G het . 15 +exonic MCPH1 chr8 6478986 6478986 C T het . 20 +ncRNA_intronic MCPH1-AS1 chr8 6486033 6486033 A G het . 2 +ncRNA_intronic MCPH1-AS1 chr8 6515433 6515433 T G het . 2 +intronic AGPAT5 chr8 6599298 6599298 C A het . 9 +intergenic GS1-24F4.2(dist=14399),DEFB1(dist=13723) chr8 6714374 6714374 A T het . 3 +intergenic DEFB1(dist=20908),DEFA6(dist=25779) chr8 6756437 6756437 T C het . 10 +intergenic DEFB1(dist=21186),DEFA6(dist=25499) chr8 6756715 6756717 GGG - het . 10 +intergenic DEFB1(dist=21278),DEFA6(dist=25409) chr8 6756807 6756807 G C het . 7 +intergenic DEFA11P(dist=19885),DEFA5(dist=5926) chr8 6906896 6906896 C A het . 2 +intergenic DEFA11P(dist=19913),DEFA5(dist=5898) chr8 6906924 6906924 C - het . 1 +intergenic DEFA11P(dist=19938),DEFA5(dist=5873) chr8 6906949 6906949 A G het . 2 +intergenic DEFA11P(dist=19944),DEFA5(dist=5867) chr8 6906955 6906955 G A het . 2 +intronic DEFA5 chr8 6913125 6913125 C A het . 12 +intergenic DEFA5(dist=20368),LINC00965(dist=183512) chr8 6934629 6934629 T G het . 2 +intergenic DEFA5(dist=35242),LINC00965(dist=168638) chr8 6949503 6949503 G C het . 3 +intergenic DEFA5(dist=45522),LINC00965(dist=158358) chr8 6959783 6959783 A T het . 2 +intergenic DEFA5(dist=67316),LINC00965(dist=136557) chr8 6981577 6981584 TCATACAT - het . 2 +intergenic DEFA5(dist=74248),LINC00965(dist=129632) chr8 6988509 6988509 G A het . 2 +exonic ZNF705G chr8 7215694 7215694 A G het . 25 +intronic ZNF705G chr8 7217291 7217291 A G het . 15 +intronic ZNF705G chr8 7217292 7217292 G A het . 15 +intergenic ZNF705G(dist=7303),DEFB4B(dist=44592) chr8 7227793 7227793 A - het . 2 +intergenic FAM66E(dist=40624),MIR548I3(dist=39560) chr8 7906901 7906903 AAA - het . 2 +intergenic FAM86B3P(dist=33779),PRAG1(dist=39092) chr8 8136166 8136166 G A het . 2 +intronic PRAG1 chr8 8186337 8186337 A T het . 2 +intronic PRAG1 chr8 8194998 8194998 G A het . 2 +exonic PRAG1 chr8 8238931 8238931 C T het . 3 +intergenic PRAG1(dist=212643),CLDN23(dist=107676) chr8 8451987 8451990 TTTT - het . 2 +intergenic PRAG1(dist=225029),CLDN23(dist=95288) chr8 8464373 8464378 TGCTGC - het . 13 +intergenic PRAG1(dist=231674),CLDN23(dist=88648) chr8 8471018 8471018 C G het . 2 +intronic MFHAS1 chr8 8643725 8643725 T A het . 2 +intronic MFHAS1 chr8 8669268 8669268 C T het . 2 +intronic MFHAS1 chr8 8681553 8681553 A G het . 1 +intronic MFHAS1 chr8 8694193 8694193 C G het . 2 +intronic MFHAS1 chr8 8708271 8708271 G C het . 2 +intronic MFHAS1 chr8 8712195 8712195 A - het . 2 +intronic MFHAS1 chr8 8731883 8731883 C T het . 2 +intergenic MFHAS1(dist=82043),ERI1(dist=27140) chr8 8833174 8833174 T - het . 3 +intergenic LOC101929128(dist=2983),LOC157273(dist=119210) chr8 9063349 9063351 AAA - het . 4 +intronic TNKS chr8 9599512 9599512 A G het . 2 +intergenic TNKS(dist=97566),LINC00599(dist=20152) chr8 9737422 9737422 G T het . 2 +intergenic TNKS(dist=106729),LINC00599(dist=10989) chr8 9746585 9746585 C T het . 1 +intergenic MIR124-1(dist=138742),MSRA(dist=12055) chr8 9899724 9899724 G C het . 1 +intergenic MIR124-1(dist=140432),MSRA(dist=10365) chr8 9901414 9901414 T C het . 1 +intergenic MIR124-1(dist=141105),MSRA(dist=9692) chr8 9902087 9902087 - AT het . 2 +intronic MSRA chr8 9979385 9979385 T C het . 2 +intergenic MSRA(dist=7189),LINCR-0001(dist=38485) chr8 10293590 10293590 A - het . 2 +intergenic MSRA(dist=7206),LINCR-0001(dist=38468) chr8 10293607 10293607 A C het . 2 +intergenic MSRA(dist=36425),LINCR-0001(dist=9249) chr8 10322826 10322826 A T het . 1 +exonic RP1L1 chr8 10465063 10465063 G T het . 7 +exonic RP1L1 chr8 10465942 10465942 T A het . 15 +exonic RP1L1 chr8 10467124 10467124 G C het . 5 +exonic RP1L1 chr8 10467576 10467576 T C het . 44 +exonic RP1L1 chr8 10467588 10467589 TT CC het . 39 +exonic RP1L1 chr8 10467652 10467652 G C het . 34 +intergenic C8orf74(dist=3149),SOX7(dist=20026) chr8 10561252 10561252 C T het . 3 +intergenic C8orf74(dist=3167),SOX7(dist=20008) chr8 10561270 10561270 A T het . 3 +UTR3 SOX7(NM_031439:c.*45T>C) chr8 10583203 10583203 A G het . 2 +exonic PINX1 chr8 10623138 10623138 T A het . 15 +intronic PINX1 chr8 10690244 10690244 T C het . 2 +intronic XKR6 chr8 10849783 10849784 TC - het . 2 +intronic XKR6 chr8 10891395 10891395 C G het . 1 +ncRNA_exonic LOC101929269 chr8 10920430 10920430 C G het . 8 +intronic XKR6 chr8 11031962 11031962 C T het . 2 +intronic XKR6 chr8 11047713 11047713 - AAAG het . 3 +intronic XKR6 chr8 11049671 11049671 - T het . 3 +ncRNA_intronic TDH chr8 11224097 11224097 T - het . 2 +ncRNA_intronic FAM167A-AS1 chr8 11237588 11237591 AAAA - het . 2 +ncRNA_exonic FAM167A-AS1 chr8 11292542 11292542 C T het . 13 +ncRNA_intronic FAM167A-AS1 chr8 11295925 11295925 T C het . 8 +intronic BLK chr8 11396914 11396914 C T het . 1 +intronic BLK chr8 11403511 11403511 A C het . 19 +intronic BLK chr8 11421358 11421358 C A het . 3 +intronic BLK chr8 11421384 11421384 C T het . 7 +intergenic BLK(dist=2839),LINC00208(dist=9092) chr8 11424952 11424952 T C het . 1 +intronic GATA4 chr8 11581448 11581448 A G het . 2 +intronic GATA4 chr8 11593033 11593033 T G het . 3 +intronic GATA4 chr8 11593066 11593066 G C het . 4 +intronic GATA4 chr8 11594970 11594970 C A het . 2 +intronic FDFT1 chr8 11659451 11659451 G C het . 10 +UTR5 FDFT1(NM_001287747:c.-5632G>C) chr8 11660764 11660764 G C het . 7 +intronic CTSB chr8 11705674 11705674 C A het . 28 +intronic CTSB chr8 11705677 11705677 C G het . 29 +intronic CTSB chr8 11710301 11710301 A G het . 2 +exonic CTSB chr8 11710888 11710888 G C het . 18 +intergenic CTSB(dist=7067),DEFB136(dist=98720) chr8 11732726 11732726 G A het . 1 +intergenic DEFB134(dist=14053),DEFB130B(dist=49584) chr8 11872314 11872314 T C het . 13 +exonic USP17L7 chr8 11990882 11990882 C T het . 1 +ncRNA_intronic FAM66A chr8 12232269 12232269 T C het . 21 +ncRNA_intronic FAM66A chr8 12232311 12232311 A G het . 41 +ncRNA_intronic FAM66A chr8 12232344 12232344 C A het . 29 +ncRNA_intronic FAM66A chr8 12232370 12232370 G T het . 7 +ncRNA_intronic FAM66A chr8 12236178 12236178 A T het . 12 +ncRNA_intronic FAM66A chr8 12236201 12236202 CC AT het . 7 +ncRNA_exonic LOC649352 chr8 12237027 12237027 C T het . 12 +ncRNA_exonic LOC649352 chr8 12237029 12237029 C A het . 12 +ncRNA_intronic LOC100506990,LOC729732 chr8 12411319 12411319 - T het . 2 +ncRNA_intronic LOC100506990,LOC729732 chr8 12418827 12418827 G A het . 2 +ncRNA_intronic LOC729732 chr8 12428039 12428039 G A het . 19 +ncRNA_intronic LOC729732 chr8 12428040 12428040 C A het . 19 +ncRNA_intronic LOC729732 chr8 12428250 12428250 C G het . 11 +ncRNA_intronic LOC729732 chr8 12428470 12428470 A C het . 17 +ncRNA_intronic LOC729732 chr8 12435580 12435580 G A het . 7 +ncRNA_intronic LOC729732 chr8 12435802 12435802 C T het . 6 +ncRNA_intronic LOC729732 chr8 12438967 12438967 T C het . 2 +ncRNA_intronic LOC729732 chr8 12441930 12441930 C T het . 2 +ncRNA_intronic LOC729732 chr8 12516453 12516453 G A het . 2 +ncRNA_intronic LOC729732 chr8 12521793 12521793 T - het . 4 +upstream LOC729732(dist=26) chr8 12523146 12523146 C G het . 3 +intronic LONRF1 chr8 12593045 12593045 A G het . 2 +intronic LONRF1 chr8 12598316 12598316 - T het . 9 +ncRNA_intronic LINC00681,LOC340357 chr8 12654946 12654946 C T het . 3 +intergenic LINC00681(dist=59492),TRMT9B(dist=67891) chr8 12735292 12735292 A G het . 2 +intergenic LINC00681(dist=93552),TRMT9B(dist=33831) chr8 12769352 12769352 G T het . 1 +intergenic LINC00681(dist=94038),TRMT9B(dist=33345) chr8 12769838 12769838 G A het . 2 +intergenic LINC00681(dist=110689),TRMT9B(dist=16690) chr8 12786489 12786493 AAAAA - het . 2 +exonic TRMT9B chr8 12878637 12878637 A G het . 16 +exonic DLC1 chr8 12958025 12958025 C A het . 5 +intronic DLC1 chr8 13177319 13177320 TC - het . 2 +intronic DLC1 chr8 13195741 13195741 T C het . 3 +intronic DLC1 chr8 13205619 13205619 T C het . 4 +intronic DLC1 chr8 13205637 13205637 G A het . 4 +intronic DLC1 chr8 13233233 13233233 - T het . 1 +intronic DLC1 chr8 13233245 13233247 TTT - het . 2 +intronic DLC1 chr8 13260285 13260285 T A het . 1 +intronic DLC1 chr8 13348600 13348600 A G het . 2 +intronic DLC1 chr8 13348613 13348613 T A het . 2 +exonic DLC1 chr8 13356802 13356802 G A het . 18 +exonic DLC1 chr8 13356818 13356819 TT CG het . 19 +intronic DLC1 chr8 13390755 13390755 T - het . 2 +intergenic DLC1(dist=21537),LOC102725080(dist=3534) chr8 13483662 13483665 ACCT - het . 2 +intergenic DLC1(dist=21578),LOC102725080(dist=3496) chr8 13483703 13483703 C G het . 2 +intergenic LOC102725080(dist=58906),SGCZ(dist=393353) chr8 13548991 13548991 T C het . 2 +intergenic LOC102725080(dist=128908),SGCZ(dist=323351) chr8 13618993 13618993 G C het . 3 +intergenic LOC102725080(dist=128918),SGCZ(dist=323341) chr8 13619003 13619003 A T het . 3 +intergenic LOC102725080(dist=157768),SGCZ(dist=294491) chr8 13647853 13647853 C T het . 2 +intergenic LOC102725080(dist=198380),SGCZ(dist=253879) chr8 13688465 13688465 A T het . 2 +intergenic LOC102725080(dist=203361),SGCZ(dist=248898) chr8 13693446 13693446 C T het . 2 +intergenic LOC102725080(dist=204282),SGCZ(dist=247977) chr8 13694367 13694367 G A het . 2 +intergenic LOC102725080(dist=289994),SGCZ(dist=162265) chr8 13780079 13780079 A C het . 1 +intergenic LOC102725080(dist=303595),SGCZ(dist=148664) chr8 13793680 13793680 C G het . 2 +intergenic LOC102725080(dist=316929),SGCZ(dist=135330) chr8 13807014 13807014 A T het . 2 +intergenic LOC102725080(dist=316959),SGCZ(dist=135300) chr8 13807044 13807044 A G het . 2 +intergenic LOC102725080(dist=395278),SGCZ(dist=56981) chr8 13885363 13885363 A C het . 1 +intergenic LOC102725080(dist=448178),SGCZ(dist=4081) chr8 13938263 13938263 G A het . 2 +intronic SGCZ chr8 13965582 13965582 T - het . 3 +intronic SGCZ chr8 14095015 14095015 A G het . 9 +intronic SGCZ chr8 14166369 14166369 T A het . 3 +intronic SGCZ chr8 14337509 14337509 A C het . 1 +intronic SGCZ chr8 14413966 14413966 G A het . 3 +intronic SGCZ chr8 14472634 14472634 C T het . 2 +intronic SGCZ chr8 14472647 14472647 C T het . 2 +intronic SGCZ chr8 14549386 14549386 T C het . 2 +intronic SGCZ chr8 14549394 14549394 A T het . 2 +intronic SGCZ chr8 14604752 14604752 G A het . 1 +intronic SGCZ chr8 14627365 14627365 A - het . 2 +intronic SGCZ chr8 14718217 14718217 - AGAA het . 2 +intronic SGCZ chr8 15058494 15058494 T C het . 2 +intronic SGCZ chr8 15058511 15058511 C T het . 2 +intronic SGCZ chr8 15094899 15094899 G A het . 2 +intergenic SGCZ(dist=69339),TUSC3(dist=232465) chr8 15165131 15165131 C G het . 2 +intergenic SGCZ(dist=246458),TUSC3(dist=55346) chr8 15342250 15342250 C T het . 2 +intronic TUSC3 chr8 15546684 15546684 G T het . 2 +intronic TUSC3 chr8 15590860 15590860 - T het . 6 +intergenic TUSC3(dist=246936),MSR1(dist=94293) chr8 15871094 15871094 C A het . 7 +intergenic TUSC3(dist=306380),MSR1(dist=34849) chr8 15930538 15930538 T C het . 1 +intergenic TUSC3(dist=314734),MSR1(dist=26495) chr8 15938892 15938892 G C het . 2 +intronic MSR1 chr8 15977716 15977716 C T het . 2 +intronic MSR1 chr8 16007650 16007653 TATA - het . 6 +intergenic MSR1(dist=84251),FGF20(dist=715783) chr8 16134551 16134551 T C het . 2 +intergenic MSR1(dist=274236),FGF20(dist=525798) chr8 16324536 16324536 C A het . 3 +intergenic MSR1(dist=621941),FGF20(dist=178093) chr8 16672241 16672241 C A het . 2 +intronic FGF20 chr8 16853359 16853359 C G het . 4 +intergenic FGF20(dist=7637),MICU3(dist=17432) chr8 16867311 16867315 AAGAG - het . 2 +intergenic FGF20(dist=7701),MICU3(dist=17372) chr8 16867375 16867375 T A het . 3 +intronic CNOT7 chr8 17100357 17100357 C T het . 2 +intronic VPS37A chr8 17105771 17105771 T - het . 7 +intronic VPS37A chr8 17105772 17105772 T C het . 7 +intronic MTMR7,VPS37A chr8 17166765 17166765 A G het . 16 +intronic MTMR7,VPS37A chr8 17166866 17166866 G A het . 18 +intronic MTMR7 chr8 17206365 17206366 AC - het . 8 +intergenic MTMR7(dist=27785),SLC7A2(dist=55772) chr8 17298825 17298825 C T het . 5 +intergenic MTMR7(dist=55498),SLC7A2(dist=28059) chr8 17326538 17326538 A C het . 1 +intronic SLC7A2 chr8 17393189 17393189 A C het . 2 +intronic SLC7A2 chr8 17406368 17406368 T - het . 10 +intronic SLC7A2 chr8 17419690 17419708 TTTTTTTTTTTTTTTTTTT - het . 7 +intergenic SLC7A2(dist=3626),PDGFRL(dist=2239) chr8 17431703 17431703 A C het . 2 +intronic PDGFRL chr8 17434641 17434641 G C het . 7 +intronic PDGFRL chr8 17446895 17446895 A - het . 2 +intronic MTUS1 chr8 17511925 17511925 C A het . 6 +intronic MTUS1 chr8 17512196 17512196 C A het . 21 +intronic MTUS1 chr8 17521118 17521118 - G het . 3 +intronic MTUS1 chr8 17521125 17521125 G C het . 3 +intronic MTUS1 chr8 17535882 17535882 A - het . 2 +intronic MTUS1 chr8 17535921 17535921 G T het . 2 +intronic MTUS1 chr8 17535942 17535942 - C het . 1 +intronic MTUS1 chr8 17553664 17553665 TC CG het . 2 +intronic MTUS1 chr8 17581700 17581700 C T het . 8 +intergenic MTUS1(dist=9552),FGL1(dist=53260) chr8 17668640 17668640 T A het . 2 +intergenic MTUS1(dist=31564),FGL1(dist=31248) chr8 17690652 17690652 T - het . 2 +exonic FGL1 chr8 17731876 17731876 A G het . 10 +upstream FGL1(dist=259) chr8 17753306 17753306 A G het . 2 +exonic PCM1 chr8 17814915 17814915 A G het . 15 +intronic PCM1 chr8 17819812 17819812 T C het . 3 +intronic PCM1 chr8 17826952 17826952 - T het . 8 +intronic PCM1 chr8 17871598 17871598 T A het . 9 +intronic PCM1 chr8 17871619 17871619 A C het . 10 +intronic PCM1 chr8 17871829 17871829 A T het . 3 +intronic PCM1 chr8 17882706 17882706 - A het . 4 +intronic ASAH1 chr8 17915190 17915190 T C het . 22 +intronic ASAH1 chr8 17920807 17920807 A G het . 13 +intronic ASAH1 chr8 17920820 17920820 A T het . 16 +intronic ASAH1 chr8 17924697 17924697 T - het . 27 +intronic ASAH1 chr8 17928711 17928711 G A het . 28 +intronic ASAH1 chr8 17928721 17928721 A - het . 27 +intronic ASAH1 chr8 17928753 17928753 - AAATA het . 17 +intronic ASAH1 chr8 17928762 17928762 - ATA het . 20 +intronic ASAH1 chr8 17928999 17928999 G A het . 4 +intronic ASAH1 chr8 17942039 17942039 C T het . 9 +exonic ASAH1 chr8 17942288 17942288 C A het . 42 +ncRNA_intronic LOC101929066 chr8 17947063 17947063 T C het . 30 +intergenic NAT1(dist=116843),NAT2(dist=50714) chr8 18198041 18198041 A G het . 1 +intergenic NAT1(dist=159966),NAT2(dist=7591) chr8 18241164 18241164 C T het . 6 +intergenic NAT1(dist=159974),NAT2(dist=7583) chr8 18241172 18241172 A T het . 6 +intronic PSD3 chr8 18395945 18395945 G T het . 2 +intronic PSD3 chr8 18432578 18432578 C G het . 11 +intronic PSD3 chr8 18457957 18457957 A G het . 13 +intronic PSD3 chr8 18496060 18496060 A - het . 4 +intronic PSD3 chr8 18637859 18637859 T - het . 2 +intronic PSD3 chr8 18652623 18652623 G T het . 1 +intronic PSD3 chr8 18656889 18656889 G - het . 18 +intronic PSD3 chr8 18659019 18659019 C T het . 7 +intronic PSD3 chr8 18659883 18659883 A - het . 18 +intronic PSD3 chr8 18661521 18661521 T C het . 1 +exonic PSD3 chr8 18729817 18729818 GT AG het . 26 +intronic PSD3 chr8 18804406 18804406 C A het . 2 +intronic PSD3 chr8 18804411 18804411 T C het . 2 +intronic PSD3 chr8 18804428 18804428 A G het . 2 +intronic PSD3 chr8 18862992 18862992 T G het . 2 +intergenic PSD3(dist=82952),LOC100128993(dist=87038) chr8 18954148 18954148 T C het . 1 +intergenic PSD3(dist=109044),LOC100128993(dist=60946) chr8 18980240 18980240 G C het . 3 +ncRNA_intronic LOC100128993 chr8 19093830 19093830 G A het . 7 +intronic SH2D4A chr8 19230956 19230957 TA - het . 2 +UTR3 CSGALNACT1(NM_001354480:c.*1156_*1157insT,NM_001354476:c.*1156_*1157insT,NM_018371:c.*1156_*1157insT,NM_001354481:c.*1156_*1157insT,NM_001354491:c.*1156_*1157insT,NM_001354475:c.*1156_*1157insT,NM_001354483:c.*1156_*1157insT,NM_001354499:c.*1156_*1157insT,NM_001354495:c.*1156_*1157insT,NM_001354488:c.*1156_*1157insT,NM_001354489:c.*1156_*1157insT,NM_001354498:c.*1156_*1157insT,NM_001130518:c.*1156_*1157insT,NM_001354497:c.*1156_*1157insT,NM_001354477:c.*1156_*1157insT,NM_001354496:c.*1156_*1157insT,NM_001354484:c.*1156_*1157insT,NM_001354490:c.*1156_*1157insT,NM_001354487:c.*1156_*1157insT,NM_001354485:c.*1156_*1157insT,NM_001354492:c.*1156_*1157insT,NM_001354494:c.*1156_*1157insT) chr8 19262134 19262134 - A het . 16 +UTR3 CSGALNACT1(NM_001354480:c.*1155_*1156insTAT,NM_001354476:c.*1155_*1156insTAT,NM_018371:c.*1155_*1156insTAT,NM_001354481:c.*1155_*1156insTAT,NM_001354491:c.*1155_*1156insTAT,NM_001354475:c.*1155_*1156insTAT,NM_001354483:c.*1155_*1156insTAT,NM_001354499:c.*1155_*1156insTAT,NM_001354495:c.*1155_*1156insTAT,NM_001354488:c.*1155_*1156insTAT,NM_001354489:c.*1155_*1156insTAT,NM_001354498:c.*1155_*1156insTAT,NM_001130518:c.*1155_*1156insTAT,NM_001354497:c.*1155_*1156insTAT,NM_001354477:c.*1155_*1156insTAT,NM_001354496:c.*1155_*1156insTAT,NM_001354484:c.*1155_*1156insTAT,NM_001354490:c.*1155_*1156insTAT,NM_001354487:c.*1155_*1156insTAT,NM_001354485:c.*1155_*1156insTAT,NM_001354492:c.*1155_*1156insTAT,NM_001354494:c.*1155_*1156insTAT) chr8 19262135 19262135 - ATA het . 16 +intronic INTS10 chr8 19687746 19687746 A - het . 2 +intergenic LPL(dist=164424),SLC18A1(dist=13172) chr8 19989194 19989194 G A het . 2 +intronic SLC18A1 chr8 20036018 20036018 - AA het . 10 +intronic SLC18A1 chr8 20036043 20036043 C A het . 12 +ncRNA_intronic LZTS1-AS1 chr8 20138603 20138603 T C het . 1 +intergenic LZTS1(dist=28384),SNORD3F(dist=282463) chr8 20189876 20189877 TT - het . 2 +intergenic LZTS1(dist=150387),SNORD3F(dist=160461) chr8 20311879 20311879 G A het . 1 +intergenic LZTS1(dist=183280),SNORD3F(dist=127568) chr8 20344772 20344772 G A het . 2 +intergenic SNORD3F(dist=103030),LOC102467222(dist=235677) chr8 20575467 20575467 T C het . 1 +intergenic SNORD3F(dist=323269),LOC102467222(dist=15431) chr8 20795706 20795713 GATAGATA - het . 3 +intergenic LINC02153(dist=281245),LOC101929172(dist=21875) chr8 21133875 21133875 G C het . 2 +intergenic LINC02153(dist=281250),LOC101929172(dist=21870) chr8 21133880 21133880 C A het . 1 +intergenic LOC101929172(dist=6700),GFRA2(dist=375870) chr8 21173660 21173660 T G het . 2 +intergenic LOC101929172(dist=46959),GFRA2(dist=335611) chr8 21213919 21213919 - TTTTG het . 3 +intergenic LOC101929172(dist=88758),GFRA2(dist=293812) chr8 21255718 21255718 T C het . 2 +intronic XPO7 chr8 21826939 21826939 T C het . 9 +intronic NPM2 chr8 21891939 21891939 G A het . 14 +intronic NPM2 chr8 21891968 21891968 C G het . 16 +intronic DMTN chr8 21937263 21937263 T G het . 2 +intronic DMTN chr8 21937281 21937281 T - het . 2 +UTR3 DMTN(NM_001323382:c.*9A>G,NM_001323397:c.*9A>G,NM_001114137:c.*9A>G,NM_001323378:c.*9A>G,NM_001323384:c.*9A>G,NM_001323391:c.*9A>G,NM_001302817:c.*9A>G,NM_001323399:c.*9A>G,NM_001323390:c.*9A>G,NM_001323389:c.*9A>G,NM_001323393:c.*9A>G,NM_001323388:c.*9A>G,NM_001114136:c.*9A>G,NM_001323383:c.*9A>G,NM_001323398:c.*9A>G,NM_001114139:c.*9A>G,NM_001323380:c.*9A>G,NM_001323395:c.*9A>G,NM_001323387:c.*9A>G,NM_001323401:c.*9A>G,NM_001114135:c.*9A>G,NM_001323396:c.*9A>G,NM_001978:c.*9A>G,NM_001323379:c.*9A>G,NM_001302816:c.*9A>G,NM_001323392:c.*9A>G,NM_001323394:c.*9A>G,NM_001114138:c.*9A>G,NM_001323385:c.*9A>G,NM_001323381:c.*9A>G,NM_001323400:c.*9A>G) chr8 21938983 21938983 A G het . 7 +UTR3 DMTN(NM_001323382:c.*562C>T,NM_001323397:c.*562C>T,NM_001114137:c.*562C>T,NM_001323378:c.*562C>T,NM_001323384:c.*562C>T,NM_001323391:c.*562C>T,NM_001302817:c.*562C>T,NM_001323399:c.*562C>T,NM_001323390:c.*562C>T,NM_001323389:c.*562C>T,NM_001323393:c.*562C>T,NM_001323388:c.*562C>T,NM_001114136:c.*562C>T,NM_001323383:c.*562C>T,NM_001323398:c.*562C>T,NM_001114139:c.*562C>T,NM_001323380:c.*562C>T,NM_001323395:c.*562C>T,NM_001323387:c.*562C>T,NM_001323401:c.*562C>T,NM_001114135:c.*562C>T,NM_001323396:c.*562C>T,NM_001978:c.*562C>T,NM_001323379:c.*562C>T,NM_001302816:c.*562C>T,NM_001323392:c.*562C>T,NM_001323394:c.*562C>T,NM_001114138:c.*562C>T,NM_001323385:c.*562C>T,NM_001323381:c.*562C>T,NM_001323400:c.*562C>T) chr8 21939536 21939536 C T het . 25 +intronic FAM160B2 chr8 21947214 21947214 A C het . 7 +intronic FAM160B2 chr8 21958333 21958333 T C het . 3 +intergenic FAM160B2(dist=1477),NUDT18(dist=1015) chr8 21963368 21963368 G C het . 1 +UTR3 REEP4(NM_001316964:c.*51_*33delCAGGGATGCACCCACAATG,NM_025232:c.*188_*170delCAGGGATGCACCCACAATG,NM_001316965:c.*304_*286delCAGGGATGCACCCACAATG) chr8 21995812 21995830 CATTGTGGGTGCATCCCTG - het . 10 +UTR3 BMP1(NM_006129:c.*44G>C) chr8 22069285 22069285 G C het . 10 +intronic PHYHIP chr8 22084652 22084653 CC GT het . 2 +intronic PHYHIP chr8 22085119 22085119 A C het . 6 +intronic PHYHIP chr8 22085123 22085123 A C het . 8 +intronic PHYHIP chr8 22085129 22085129 A C het . 8 +intronic PIWIL2 chr8 22175533 22175533 G A het . 1 +intronic PIWIL2 chr8 22175567 22175567 C T het . 1 +intronic PIWIL2 chr8 22186608 22186608 C G het . 3 +intronic PIWIL2 chr8 22186618 22186618 C A het . 3 +intronic PIWIL2 chr8 22186639 22186639 - A het . 3 +intronic PIWIL2 chr8 22210469 22210469 C T het . 9 +intronic SLC39A14 chr8 22284217 22284217 G A het . 2 +UTR5 PPP3CC(NM_005605:c.-122C>G,NM_001243975:c.-122C>G,NM_001243974:c.-122C>G) chr8 22298801 22298801 C G het . 4 +UTR5 PPP3CC(NM_005605:c.-84A>G,NM_001243975:c.-84A>G,NM_001243974:c.-84A>G) chr8 22298839 22298839 A G het . 8 +intronic PPP3CC chr8 22379856 22379856 G A het . 10 +exonic SORBS3 chr8 22422803 22422803 C A het . 16 +intronic SORBS3 chr8 22422923 22422923 G A het . 7 +intronic PDLIM2 chr8 22441684 22441684 T - het . 2 +intronic C8orf58 chr8 22460012 22460012 T G het . 8 +intronic CCAR2 chr8 22465385 22465385 T C het . 3 +intronic CCAR2 chr8 22470710 22470710 G A het . 2 +intronic CCAR2 chr8 22472256 22472256 G T het . 28 +intronic CCAR2 chr8 22472281 22472281 A T het . 31 +exonic CCAR2 chr8 22472362 22472362 C A het . 25 +intronic CCAR2 chr8 22473156 22473156 C A het . 13 +intronic CCAR2 chr8 22473158 22473158 C T het . 12 +intronic CCAR2 chr8 22477132 22477134 CAT - het . 13 +intronic RHOBTB2 chr8 22863004 22863004 A G het . 8 +intronic RHOBTB2 chr8 22863017 22863017 G T het . 5 +intronic TNFRSF10B chr8 22900850 22900850 T C het . 4 +upstream R3HCC1(dist=285) chr8 23145320 23145320 A G het . 3 +intronic R3HCC1 chr8 23150734 23150734 C T het . 5 +intronic LOXL2 chr8 23172337 23172337 C A het . 2 +intronic LOXL2 chr8 23177619 23177619 C A het . 4 +intergenic SLC25A37(dist=25378),NKX3-1(dist=77852) chr8 23458354 23458354 T A het . 1 +intergenic NKX2-6(dist=34287),STC1(dist=101036) chr8 23598398 23598398 T C het . 1 +intergenic NKX2-6(dist=99572),STC1(dist=35751) chr8 23663683 23663683 C T het . 12 +intergenic NKX2-6(dist=123610),STC1(dist=11713) chr8 23687721 23687721 G T het . 2 +UTR5 STC1(NM_003155:c.-31delA) chr8 23712067 23712067 T - het . 10 +intergenic STC1(dist=39205),ADAM28(dist=400028) chr8 23751525 23751525 T - het . 2 +intergenic STC1(dist=86735),ADAM28(dist=352498) chr8 23799055 23799055 T A het . 2 +intergenic STC1(dist=408430),ADAM28(dist=30803) chr8 24120750 24120750 C T het . 2 +ncRNA_intronic LOC101929294 chr8 24211716 24211716 G A het . 6 +ncRNA_intronic LOC101929294 chr8 24211734 24211734 C G het . 11 +ncRNA_intronic LOC101929294 chr8 24211739 24211739 C A het . 11 +ncRNA_intronic LOC101929294 chr8 24211884 24211884 - TGTC het . 20 +ncRNA_intronic LOC101929294 chr8 24211994 24211997 CTAT - het . 9 +ncRNA_intronic LOC101929294 chr8 24247556 24247556 A G het . 9 +ncRNA_intronic LOC101929294,LOC101929315 chr8 24359126 24359127 TT - het . 10 +ncRNA_intronic LOC101929294,LOC101929315 chr8 24359542 24359543 AA - het . 2 +intergenic NEFL(dist=146261),DOCK5(dist=81594) chr8 24960644 24960644 C A het . 2 +intergenic NEFL(dist=146279),DOCK5(dist=81576) chr8 24960662 24960662 T C het . 2 +intergenic NEFL(dist=150654),DOCK5(dist=77201) chr8 24965037 24965037 C A het . 3 +intronic DOCK5 chr8 25202915 25202915 A G het . 3 +ncRNA_exonic MIR6876 chr8 25202934 25202934 C A het . 6 +intronic DOCK5 chr8 25224673 25224673 C A het . 4 +intronic DOCK5 chr8 25231117 25231117 - T het . 26 +intronic DOCK5 chr8 25232899 25232899 T C het . 1 +intronic DOCK5 chr8 25232921 25232921 - TT het . 2 +intronic DOCK5 chr8 25232925 25232925 A T het . 2 +intronic DOCK5 chr8 25258366 25258366 A C het . 4 +intronic DOCK5 chr8 25262785 25262785 T - het . 2 +intronic DOCK5 chr8 25265381 25265384 AAAA - het . 2 +intronic KCTD9 chr8 25288025 25288025 G C het . 1 +intronic CDCA2 chr8 25317614 25317614 T G het . 4 +intronic CDCA2 chr8 25330877 25330877 C T het . 2 +intronic CDCA2 chr8 25334148 25334148 A G het . 2 +exonic CDCA2 chr8 25364834 25364834 A T het . 14 +intergenic CDCA2(dist=289025),EBF2(dist=44788) chr8 25654458 25654458 T C het . 2 +exonic EBF2 chr8 25708267 25708267 T C het . 11 +intronic EBF2 chr8 25853812 25853814 AAA - het . 4 +UTR5 EBF2(NM_022659:c.-50G>T) chr8 25902425 25902425 C A het . 6 +intergenic EBF2(dist=24346),PPP2R2A(dist=222021) chr8 25926986 25926986 C G het . 2 +intergenic EBF2(dist=165980),PPP2R2A(dist=80387) chr8 26068620 26068620 C T het . 2 +UTR5 BNIP3L(NM_004331:c.-1A>G) chr8 26240646 26240646 A G het . 23 +intergenic BNIP3L(dist=26351),PNMA2(dist=65200) chr8 26296996 26296996 G A het . 1 +exonic DPYSL2 chr8 26372053 26372053 T G het . 13 +intronic DPYSL2 chr8 26378543 26378543 C T het . 3 +intronic DPYSL2 chr8 26399916 26399916 T - het . 2 +intronic DPYSL2 chr8 26399928 26399928 C A het . 2 +intronic DPYSL2 chr8 26399931 26399931 A T het . 2 +exonic ADRA1A chr8 26614128 26614128 C A het . 40 +UTR3 ADRA1A(NM_033304:c.*90_*91insTTTCTTTTCACAA) chr8 26623477 26623477 - TTGTGAAAAGAAA het . 8 +exonic ADRA1A chr8 26628028 26628028 A G het . 24 +intronic ADRA1A chr8 26636981 26636981 G A het . 7 +intergenic ADRA1A(dist=144762),STMN4(dist=223318) chr8 26869522 26869522 T G het . 7 +intergenic ADRA1A(dist=268128),STMN4(dist=99952) chr8 26992888 26992888 T G het . 3 +intronic STMN4 chr8 27106224 27106224 G A het . 1 +UTR3 TRIM35(NM_001304495:c.*1969delT,NM_171982:c.*1407delT,NM_001362813:c.*1969delT) chr8 27143660 27143660 A - het . 30 +intronic PTK2B chr8 27288033 27288033 T C het . 5 +intronic PTK2B chr8 27295109 27295109 A G het . 2 +intronic PTK2B chr8 27312040 27312040 C T het . 10 +intronic SCARA3 chr8 27519587 27519587 A G het . 1 +downstream CCDC25(dist=199) chr8 27590634 27590634 C T het . 2 +UTR3 CCDC25(NM_018246:c.*152T>A,NM_001304530:c.*124T>A,NM_001304529:c.*211T>A,NM_001304532:c.*152T>A) chr8 27593581 27593581 A T het . 7 +intronic CCDC25 chr8 27598172 27598172 A G het . 1 +UTR3 ESCO2(NM_001017420:c.*111_*112insAC) chr8 27661066 27661066 - AC het . 2 +intronic SCARA5 chr8 27764627 27764627 T C het . 4 +intronic SCARA5 chr8 27778148 27778148 A C het . 2 +intronic NUGGC chr8 27890858 27890858 G A het . 1 +intronic PNOC chr8 28178513 28178513 T C het . 2 +intronic PNOC chr8 28184765 28184765 G C het . 2 +intronic PNOC chr8 28185537 28185537 G A het . 4 +intronic PNOC chr8 28185578 28185578 T C het . 3 +intronic PNOC chr8 28185580 28185580 T C het . 3 +intronic FBXO16 chr8 28304795 28304795 A T het . 25 +intronic FZD3 chr8 28409320 28409320 T - het . 14 +intronic FZD3 chr8 28414852 28414852 T A het . 3 +intergenic FZD3(dist=96714),EXTL3-AS1(dist=27419) chr8 28528499 28528501 TAA - het . 2 +exonic EXTL3 chr8 28573832 28573832 C A het . 14 +intronic INTS9 chr8 28647426 28647426 A G het . 1 +intronic INTS9 chr8 28654225 28654225 C A het . 15 +intronic INTS9 chr8 28659023 28659023 C - het . 2 +intronic HMBOX1 chr8 28899997 28899997 G A het . 8 +intergenic HMBOX1(dist=12507),KIF13B(dist=1501) chr8 28923294 28923294 C G het . 2 +intronic KIF13B chr8 28932760 28932760 T A het . 9 +intronic KIF13B chr8 28979949 28979949 C A het . 2 +intronic KIF13B chr8 29053762 29053762 A - het . 14 +intergenic DUSP4(dist=89745),LINC00589(dist=280764) chr8 29298012 29298012 A G het . 2 +intergenic DUSP4(dist=158988),LINC00589(dist=211521) chr8 29367255 29367255 T C het . 4 +intergenic DUSP4(dist=265408),LINC00589(dist=105101) chr8 29473675 29473675 G A het . 2 +intergenic MIR3148(dist=71400),SARAF(dist=34264) chr8 29886264 29886264 A - het . 33 +intronic SARAF chr8 29924528 29924528 C A het . 5 +intronic LEPROTL1 chr8 29956597 29956597 T C het . 3 +intergenic MBOAT4(dist=3226),DCTN6(dist=8387) chr8 30005426 30005426 C T het . 2 +upstream DCTN6(dist=54) chr8 30013759 30013759 A C het . 3 +intronic RBPMS chr8 30298935 30298935 C G het . 1 +intronic RBPMS chr8 30387590 30387590 G A het . 1 +exonic RBPMS chr8 30402123 30402123 C T het . 34 +intronic RBPMS chr8 30402534 30402535 TG - het . 5 +exonic GSR chr8 30537040 30537040 A G het . 36 +intronic GSR chr8 30537224 30537225 TT - het . 15 +exonic GSR chr8 30550559 30550559 A G het . 16 +intronic GSR chr8 30567424 30567425 AA - het . 12 +intronic GSR chr8 30568285 30568285 A T het . 3 +upstream UBXN8(dist=71) chr8 30601611 30601611 C - het . 12 +intronic UBXN8 chr8 30608867 30608867 A - het . 19 +intronic UBXN8 chr8 30623526 30623526 - A het . 2 +intronic TEX15 chr8 30721477 30721477 A - het . 3 +intronic WRN chr8 30933817 30933817 T - het . 23 +intronic WRN chr8 30933849 30933849 A - het . 22 +intronic WRN chr8 30936118 30936118 G A het . 2 +exonic WRN chr8 30945377 30945379 AAG - het . 37 +intronic WRN chr8 30954244 30954244 G T het . 10 +intronic WRN chr8 30954258 30954258 C G het . 10 +intronic WRN chr8 30954265 30954265 C G het . 11 +intronic WRN chr8 30954270 30954270 G T het . 12 +intronic WRN chr8 30978058 30978058 A - het . 9 +intronic WRN chr8 30981971 30981971 G T het . 16 +intronic WRN chr8 31004843 31004843 C T het . 35 +intergenic WRN(dist=21400),NRG1(dist=442481) chr8 31054787 31054787 G A het . 1 +intronic NRG1 chr8 31733546 31733546 - AAAC het . 6 +intronic NRG1 chr8 31879456 31879456 A G het . 2 +ncRNA_intronic NRG1-IT1 chr8 31925876 31925876 C T het . 1 +intronic NRG1 chr8 32287798 32287798 A G het . 1 +intronic NRG1 chr8 32327903 32327903 A G het . 2 +intergenic NRG1(dist=147080),FUT10(dist=455789) chr8 32772555 32772555 A - het . 6 +intergenic NRG1(dist=540949),FUT10(dist=61920) chr8 33166424 33166424 G C het . 12 +exonic FUT10 chr8 33246792 33246792 C - het . 11 +intronic FUT10 chr8 33305703 33305704 AA TT het . 2 +intronic FUT10 chr8 33307340 33307340 G A het . 2 +intronic FUT10 chr8 33320054 33320054 A G het . 3 +intronic MAK16 chr8 33352841 33352841 A C het . 5 +intronic MAK16 chr8 33354871 33354873 AAC - het . 8 +intronic TTI2 chr8 33367554 33367554 A - het . 15 +upstream TTI2(dist=489) chr8 33371199 33371199 T C het . 4 +intergenic TTI2(dist=9975),RNF122(dist=24587) chr8 33380685 33380685 T C het . 9 +intergenic RNF122(dist=4681),DUSP26(dist=19521) chr8 33429327 33429327 T C het . 2 +intergenic DUSP26(dist=88743),LINC01288(dist=1095072) chr8 33546367 33546367 T C het . 2 +intergenic DUSP26(dist=274352),LINC01288(dist=909463) chr8 33731976 33731976 A G het . 1 +intergenic DUSP26(dist=436276),LINC01288(dist=747539) chr8 33893900 33893900 T - het . 2 +intergenic DUSP26(dist=498675),LINC01288(dist=685140) chr8 33956299 33956299 A - het . 2 +intergenic DUSP26(dist=607680),LINC01288(dist=576135) chr8 34065304 34065304 - C het . 2 +intergenic DUSP26(dist=610159),LINC01288(dist=573656) chr8 34067783 34067783 T C het . 2 +intergenic DUSP26(dist=610179),LINC01288(dist=573636) chr8 34067803 34067803 G A het . 2 +intergenic DUSP26(dist=650244),LINC01288(dist=533571) chr8 34107868 34107868 T G het . 2 +intergenic DUSP26(dist=1100099),LINC01288(dist=83716) chr8 34557723 34557723 - T het . 2 +intergenic LINC01288(dist=9880),UNC5D(dist=360776) chr8 34732196 34732199 AAAT - het . 12 +intergenic LINC01288(dist=77432),UNC5D(dist=293224) chr8 34799748 34799751 GAAG - het . 2 +intergenic LINC01288(dist=137985),UNC5D(dist=232674) chr8 34860301 34860301 A G het . 1 +intergenic LINC01288(dist=253921),UNC5D(dist=116738) chr8 34976237 34976237 C T het . 2 +intergenic LINC01288(dist=313219),UNC5D(dist=57440) chr8 35035535 35035535 A G het . 3 +intergenic UNC5D(dist=784730),KCNU1(dist=203044) chr8 36438798 36438798 A C het . 2 +intronic KCNU1 chr8 36730616 36730616 C A het . 2 +intronic KCNU1 chr8 36746837 36746837 G T het . 4 +intergenic KCNU1(dist=10746),MIR1268A(dist=175082) chr8 36804389 36804389 C T het . 3 +intergenic KCNU1(dist=159142),MIR1268A(dist=26686) chr8 36952785 36952785 G C het . 7 +intergenic KCNU1(dist=179909),MIR1268A(dist=5919) chr8 36973552 36973552 G A het . 2 +ncRNA_intronic MIR1268A chr8 37253057 37253057 C G het . 1 +upstream LINC01605(dist=664) chr8 37352095 37352095 A C het . 2 +intergenic LINC01605(dist=17199),LINC01605(dist=5294) chr8 37368630 37368630 T C het . 3 +intergenic LINC01605(dist=68930),ZNF703(dist=105435) chr8 37447834 37447834 G A het . 2 +intergenic LINC01605(dist=77086),ZNF703(dist=97279) chr8 37455990 37455990 G C het . 10 +ncRNA_intronic LOC101929622 chr8 37590446 37590446 C T het . 2 +intronic ERLIN2 chr8 37609097 37609097 C A het . 26 +UTR3 PLPBP(NM_007198:c.*27A>G,NM_001349347:c.*27A>G,NM_001349346:c.*27A>G,NM_001349348:c.*27A>G) chr8 37635649 37635649 A G het . 5 +exonic ADGRA2 chr8 37698335 37698335 C T het . 17 +exonic RAB11FIP1 chr8 37732544 37732544 C A het . 27 +exonic RAB11FIP1 chr8 37734654 37734654 C A het . 18 +intronic EIF4EBP1 chr8 37890569 37890572 TTTC - het . 2 +intronic EIF4EBP1 chr8 37907295 37907295 T A het . 2 +intergenic EIF4EBP1(dist=33019),ASH2L(dist=12109) chr8 37950902 37950902 G A het . 1 +intronic NSD3 chr8 38199042 38199042 C T het . 2 +intronic LETM2 chr8 38245599 38245599 T - het . 4 +intergenic FGFR1(dist=1520),C8orf86(dist=40480) chr8 38327872 38327872 A G het . 2 +exonic C8orf86 chr8 38369982 38369982 C G het . 9 +intronic C8orf86 chr8 38370201 38370210 AGACACAGAC - het . 4 +intergenic C8orf86(dist=36924),RNF5P1(dist=34589) chr8 38423104 38423104 C T het . 1 +ncRNA_exonic RNF5P1 chr8 38458552 38458552 - TCT het . 10 +intergenic RNF5P1(dist=106707),TACC1(dist=20222) chr8 38565482 38565482 G A het . 2 +intronic TACC1 chr8 38589704 38589704 - GGAAA het . 4 +UTR3 TM2D2(NM_031940:c.*1G>A,NM_078473:c.*1G>A,NM_001024381:c.*1G>A,NM_001024380:c.*1G>A) chr8 38848850 38848850 C T het . 14 +intronic ADAM9 chr8 38884342 38884342 - TTCT het . 40 +intronic ADAM9 chr8 38911953 38911953 C A het . 26 +intronic ADAM9 chr8 38913033 38913033 C A het . 16 +intronic ADAM9 chr8 38934737 38934737 C A het . 24 +intronic ADAM9 chr8 38940144 38940144 T - het . 19 +exonic ADAM9 chr8 38961174 38961174 T C het . 30 +UTR3 ADAM9(NM_003816:c.*50delT) chr8 38961269 38961269 T - het . 29 +intronic ADAM32 chr8 38987460 38987460 G T het . 16 +intronic ADAM32 chr8 38987475 38987476 TT - het . 17 +intronic ADAM32 chr8 38988463 38988463 G A het . 6 +intronic ADAM32 chr8 39004620 39004620 A T het . 19 +ncRNA_intronic ADAM5 chr8 39195964 39195964 T A het . 2 +intronic ADAM2 chr8 39666852 39666852 A - het . 9 +intergenic ADAM2(dist=29321),IDO1(dist=46199) chr8 39725129 39725129 - TCT het . 7 +intronic IDO1 chr8 39780923 39780925 AAA - het . 11 +intronic IDO2 chr8 39813579 39813579 T - het . 2 +intronic IDO2 chr8 39842954 39842954 C G het . 18 +intronic IDO2 chr8 39855494 39855494 C G het . 2 +intergenic IDO2(dist=48631),TCIM(dist=88446) chr8 39922541 39922541 A C het . 1 +intergenic TCIM(dist=293758),ZMAT4(dist=81526) chr8 40306585 40306585 A T het . 2 +intergenic TCIM(dist=293765),ZMAT4(dist=81519) chr8 40306592 40306592 T A het . 2 +intergenic TCIM(dist=293772),ZMAT4(dist=81511) chr8 40306599 40306600 CT AC het . 2 +intronic ZMAT4 chr8 40389934 40389935 AA - het . 3 +intronic ZMAT4 chr8 40486527 40486527 T - het . 2 +intronic ZMAT4 chr8 40486529 40486529 T C het . 2 +intronic ZMAT4 chr8 40666095 40666095 A - het . 7 +intronic ZMAT4 chr8 40696248 40696248 G A het . 3 +intergenic ZMAT4(dist=11550),SFRP1(dist=352583) chr8 40766893 40766893 A C het . 2 +intergenic ZMAT4(dist=11573),SFRP1(dist=352556) chr8 40766916 40766920 TGTTT - het . 2 +intergenic ZMAT4(dist=286406),SFRP1(dist=77727) chr8 41041749 41041749 C G het . 6 +intronic SFRP1 chr8 41148737 41148737 A T het . 2 +intronic SFRP1 chr8 41156780 41156780 A G het . 2 +exonic NKX6-3 chr8 41504211 41504211 C A het . 6 +intronic ANK1 chr8 41541978 41541978 C T het . 8 +intronic ANK1 chr8 41554381 41554381 C T het . 8 +intronic ANK1 chr8 41576746 41576746 A G het . 1 +intronic ANK1 chr8 41615429 41615429 G A het . 4 +intronic ANK1 chr8 41635127 41635127 T A het . 1 +intronic ANK1 chr8 41635129 41635129 A C het . 2 +intronic ANK1 chr8 41733347 41733347 G C het . 2 +UTR5 ANK1(NM_001142446:c.-10delG) chr8 41754008 41754008 C - het . 20 +intronic KAT6A chr8 41853193 41853193 T - het . 4 +intronic KAT6A chr8 41887474 41887474 C T het . 2 +intergenic LOC105379393(dist=39039),AP3M2(dist=8920) chr8 42001544 42001544 G A het . 3 +intronic AP3M2 chr8 42013527 42013527 C A het . 14 +intronic AP3M2 chr8 42013563 42013563 - ATG het . 8 +exonic PLAT chr8 42037843 42037843 G A het . 19 +intergenic PLAT(dist=5526),LOC101929897(dist=42073) chr8 42070768 42070768 C T het . 2 +intronic POLB chr8 42199294 42199294 T A het . 3 +intronic POLB chr8 42202561 42202561 C T het . 14 +intronic POLB chr8 42203463 42203463 G A het . 2 +intergenic SMIM19(dist=37410),CHRNB3(dist=104771) chr8 42447748 42447748 G T het . 2 +intergenic SMIM19(dist=94846),CHRNB3(dist=47335) chr8 42505184 42505184 G C het . 2 +intergenic SMIM19(dist=136695),CHRNB3(dist=5486) chr8 42547033 42547033 T C het . 2 +intronic CHRNB3 chr8 42587796 42587796 G A het . 6 +exonic HOOK3 chr8 42868499 42868499 A C het . 13 +UTR3 HOOK3(NM_032410:c.*8914_*8915insTTTGT) chr8 42882555 42882555 - TTTGT het . 17 +intronic FNTA chr8 42930786 42930786 T C het . 1 +intronic HGSNAT chr8 43002053 43002055 TTT - het . 12 +downstream HGSNAT(dist=639) chr8 43058609 43058611 GAA - het . 2 +intergenic HGSNAT(dist=48893),POTEA(dist=40722) chr8 43106863 43106863 C T het . 13 +intergenic HGSNAT(dist=48896),POTEA(dist=40719) chr8 43106866 43106866 T A het . 13 +intergenic HGSNAT(dist=48921),POTEA(dist=40693) chr8 43106891 43106892 AT - het . 18 +intergenic HGSNAT(dist=68886),POTEA(dist=20729) chr8 43126856 43126856 T - het . 24 +exonic POTEA chr8 43155666 43155666 C T het . 15 +intronic POTEA chr8 43171251 43171251 G A het . 5 +intergenic POTEA(dist=273672),NONE(dist=NONE) chr8 43492000 43492000 G A het . 2 +intergenic POTEA(dist=440530),NONE(dist=NONE) chr8 43658858 43658858 C A het . 2 +intergenic NONE(dist=NONE),ASNSP1(dist=586058) chr8 46904779 46904779 T A het . 1 +intergenic NONE(dist=NONE),ASNSP1(dist=449448) chr8 47041389 47041389 G A het . 2 +ncRNA_intronic ASNSP1 chr8 47499701 47499701 C T het . 3 +intergenic ASNSP1(dist=194539),LINC00293(dist=28704) chr8 47723804 47723804 T A het . 1 +intergenic LINC00293(dist=24649),LOC100287846(dist=308874) chr8 47792056 47792056 G A het . 7 +intergenic LINC00293(dist=123948),LOC100287846(dist=209575) chr8 47891355 47891355 C T het . 3 +intergenic LINC00293(dist=309338),LOC100287846(dist=24185) chr8 48076745 48076745 - T het . 6 +intergenic LINC00293(dist=309344),LOC100287846(dist=24179) chr8 48076751 48076751 A T het . 6 +ncRNA_exonic LOC100287846 chr8 48102692 48102692 C A het . 3 +exonic SPIDR chr8 48511745 48511745 C A het . 9 +intronic SPIDR chr8 48585955 48585955 C A het . 20 +exonic PRKDC chr8 48766659 48766659 C A het . 16 +intronic PRKDC chr8 48868518 48868518 A - het . 12 +intronic MCM4 chr8 48874060 48874060 T C het . 11 +intronic UBE2V2 chr8 48962336 48962336 T - het . 10 +intergenic UBE2V2(dist=435443),LOC101929268(dist=54230) chr8 49409897 49409897 G A het . 3 +intronic EFCAB1 chr8 49642233 49642233 C A het . 14 +intronic EFCAB1 chr8 49642572 49642572 C T het . 6 +splicing SNAI2(NM_003068:exon2:c.625+1G>T) chr8 49832454 49832454 C A het . 24 +intergenic PPDPFL(dist=77408),LOC100507464(dist=343272) chr8 50066050 50066050 T C het . 2 +intergenic PPDPFL(dist=121422),LOC100507464(dist=299258) chr8 50110064 50110064 G A het . 3 +intergenic PPDPFL(dist=283855),LOC100507464(dist=136825) chr8 50272497 50272497 G A het . 1 +intergenic LOC100507464(dist=228967),SNTG1(dist=168580) chr8 50653706 50653706 A G het . 8 +intergenic LOC100507464(dist=369131),SNTG1(dist=28416) chr8 50793870 50793870 C T het . 2 +intronic SNTG1 chr8 50998808 50998808 G A het . 2 +intronic SNTG1 chr8 51176016 51176016 G A het . 1 +intronic SNTG1 chr8 51314659 51314659 C T het . 5 +intronic SNTG1 chr8 51314750 51314750 T - het . 7 +intronic SNTG1 chr8 51341248 51341248 T C het . 1 +exonic SNTG1 chr8 51351111 51351111 G C het . 15 +intronic SNTG1 chr8 51615927 51615927 A G het . 1 +intergenic SNTG1(dist=282836),PXDNL(dist=240085) chr8 51992052 51992052 T C het . 2 +intergenic SNTG1(dist=301596),PXDNL(dist=221325) chr8 52010812 52010812 C T het . 2 +intergenic SNTG1(dist=441688),PXDNL(dist=81233) chr8 52150904 52150904 - T het . 3 +intronic PXDNL chr8 52284654 52284654 - A het . 9 +intronic PXDNL chr8 52339006 52339006 A G het . 6 +intronic PXDNL chr8 52339034 52339034 A - het . 8 +intronic PXDNL chr8 52396048 52396048 C T het . 10 +intronic PXDNL chr8 52529958 52529958 C G het . 2 +intronic PXDNL chr8 52634289 52634289 C T het . 18 +intronic PXDNL chr8 52657329 52657329 G - het . 1 +intronic PXDNL chr8 52667448 52667448 A T het . 2 +UTR3 PCMTD1(NM_052937:c.*120_*121insA,NM_001286783:c.*120_*121insA,NM_001286782:c.*120_*121insA) chr8 52732790 52732790 - T het . 5 +intronic PCMTD1 chr8 52733340 52733340 - T het . 4 +intronic PCMTD1 chr8 52764368 52764368 G A het . 1 +intronic PCMTD1 chr8 52781276 52781276 A G het . 2 +UTR5 PCMTD1(NM_052937:c.-37970T>C,NM_001286783:c.-65550T>C,NM_001286782:c.-10T>C) chr8 52811681 52811681 A G het . 2 +intergenic ST18(dist=28698),ALKAL1(dist=95460) chr8 53351137 53351137 C T het . 2 +intergenic ST18(dist=43425),ALKAL1(dist=80733) chr8 53365864 53365864 G A het . 3 +intergenic RB1CC1(dist=217533),NPBWR1(dist=7909) chr8 53844559 53844559 A G het . 2 +intergenic NPBWR1(dist=8031),OPRK1(dist=276791) chr8 53861485 53861485 C T het . 2 +intergenic NPBWR1(dist=116321),OPRK1(dist=168501) chr8 53969775 53969775 T - het . 2 +intergenic NPBWR1(dist=149205),OPRK1(dist=135617) chr8 54002659 54002659 - T het . 3 +intergenic NPBWR1(dist=153045),OPRK1(dist=131777) chr8 54006499 54006499 G A het . 2 +intergenic OPRK1(dist=249657),LOC100507516(dist=10427) chr8 54413914 54413914 G A het . 2 +intronic ATP6V1H chr8 54733933 54733935 AAA - het . 2 +intronic ATP6V1H chr8 54733956 54733956 A C het . 1 +intronic ATP6V1H chr8 54733981 54733981 A C het . 2 +intronic RGS20 chr8 54839737 54839737 G T het . 2 +intronic RGS20 chr8 54858917 54858917 C T het . 4 +exonic MRPL15 chr8 55060117 55060117 C A het . 24 +intergenic MRPL15(dist=43239),SOX17(dist=266182) chr8 55104313 55104313 A G het . 4 +intergenic MRPL15(dist=43421),SOX17(dist=266000) chr8 55104495 55104495 C T het . 8 +intergenic MRPL15(dist=99322),SOX17(dist=210099) chr8 55160396 55160396 A G het . 2 +intergenic SOX17(dist=33376),RP1(dist=121795) chr8 55406832 55406832 C A het . 3 +intronic RP1 chr8 55537138 55537138 T C het . 10 +intergenic RP1(dist=21847),XKR4(dist=449776) chr8 55565241 55565241 G T het . 8 +intergenic RP1(dist=197130),XKR4(dist=274493) chr8 55740524 55740524 T C het . 1 +ncRNA_exonic SBF1P1 chr8 56367386 56367387 AA CT het . 3 +ncRNA_exonic SBF1P1 chr8 56367418 56367419 CA TT het . 5 +ncRNA_exonic SBF1P1 chr8 56367419 56367419 A T het . 5 +intronic XKR4 chr8 56392485 56392485 G A het . 2 +intergenic XKR4(dist=97387),TMEM68(dist=115206) chr8 56536097 56536097 A - het . 3 +intronic TMEM68 chr8 56669044 56669044 T C het . 9 +intronic TMEM68 chr8 56684531 56684531 C T het . 2 +intergenic TGS1(dist=2877),LYN(dist=50505) chr8 56741881 56741881 T - het . 2 +intergenic TGS1(dist=51857),LYN(dist=1525) chr8 56790861 56790861 T G het . 2 +intronic LYN chr8 56844972 56844972 - TTTG het . 5 +downstream CERNA3(dist=567) chr8 56988400 56988400 C G het . 4 +intergenic CERNA3(dist=26898),MOS(dist=10770) chr8 57014731 57014731 C T het . 13 +intergenic SDR16C6P(dist=32688),PENK(dist=17553) chr8 57335957 57335960 TTTT - het . 10 +ncRNA_intronic LOC101929415 chr8 57389325 57389325 G - het . 15 +ncRNA_intronic LOC101929415 chr8 57389328 57389331 TTTG - het . 15 +ncRNA_intronic LOC101929415 chr8 57389571 57389571 G C het . 22 +ncRNA_intronic LOC101929415 chr8 57389583 57389583 C A het . 22 +ncRNA_intronic LOC101929415 chr8 57411368 57411368 G A het . 2 +intergenic LINC00968(dist=34254),IMPAD1(dist=363852) chr8 57506636 57506636 T A het . 2 +intergenic IMPAD1(dist=108659),LINC01606(dist=115746) chr8 58015089 58015089 G A het . 3 +intergenic LOC101929488(dist=57003),LOC286178(dist=324290) chr8 58334418 58334418 A G het . 2 +intergenic LOC101929488(dist=214883),LOC286178(dist=166410) chr8 58492298 58492298 T A het . 2 +intergenic FAM110B(dist=28164),LOC101929528(dist=77889) chr8 59090441 59090441 - A het . 2 +intergenic LOC101929528(dist=58786),UBXN2B(dist=80377) chr8 59243446 59243446 T A het . 1 +intronic UBXN2B chr8 59346908 59346909 AT - het . 8 +intronic CYP7A1 chr8 59404496 59404496 C T het . 12 +intronic CYP7A1 chr8 59410632 59410632 C T het . 10 +intronic NSMAF chr8 59522535 59522535 G A het . 2 +intronic NSMAF chr8 59535622 59535622 G C het . 3 +intronic NSMAF chr8 59535860 59535861 TT - het . 25 +intronic NSMAF chr8 59544413 59544413 G A het . 3 +intergenic NSMAF(dist=44584),TOX(dist=100989) chr8 59616988 59616988 A G het . 2 +intergenic LOC100505501(dist=255185),CA8(dist=806757) chr8 60291222 60291222 T C het . 3 +intergenic LOC100505501(dist=643985),CA8(dist=417957) chr8 60680022 60680022 C T het . 2 +intronic CA8 chr8 61135077 61135077 C A het . 11 +UTR5 CA8(NM_004056:c.-103T>C,NM_001321839:c.-103T>C,NM_001321838:c.-103T>C,NM_001321837:c.-103T>C) chr8 61193809 61193809 A G het . 3 +intergenic LINC01301(dist=41622),RAB2A(dist=61470) chr8 61367999 61367999 A - het . 3 +intergenic LINC01301(dist=41624),RAB2A(dist=61468) chr8 61368001 61368001 A C het . 3 +intronic RAB2A chr8 61470948 61470948 C A het . 17 +intergenic RAB2A(dist=7712),CHD7(dist=47409) chr8 61543915 61543915 - TTTC het . 4 +exonic CHD7 chr8 61735269 61735269 C A het . 9 +intronic CHD7 chr8 61750860 61750860 A G het . 7 +intronic CHD7 chr8 61764076 61764076 A G het . 3 +intergenic CHD7(dist=71266),LOC100130298(dist=26828) chr8 61851852 61851852 - T het . 16 +intergenic LOC100130298(dist=65413),CLVS1(dist=254805) chr8 61945720 61945720 - AAAG het . 3 +intergenic LOC100130298(dist=123240),CLVS1(dist=196978) chr8 62003547 62003547 - C het . 5 +intronic CLVS1 chr8 62407218 62407218 - TG het . 2 +intronic ASPH chr8 62460530 62460530 C A het . 6 +intronic ASPH chr8 62492492 62492492 T A het . 2 +intronic ASPH chr8 62496415 62496415 C T het . 12 +intronic ASPH chr8 62496422 62496422 T - het . 12 +splicing ASPH(NM_004318:exon11:c.791-2->T,NM_001164750:exon11:c.704-2->T,NM_032468:exon12:c.749-2->T,NM_032466:exon11:c.791-2->T,NM_001164753:exon11:c.620-2->T,NM_001164755:exon10:c.662-2->T,NM_001164754:exon10:c.734-2->T) chr8 62550924 62550924 - A het . 11 +exonic ASPH chr8 62566134 62566134 C A het . 23 +UTR5 ASPH(NM_004318:c.-32G>A,NM_032466:c.-32G>A,NM_001164755:c.-32G>A,NM_001164754:c.-32G>A,NM_001164756:c.-32G>A) chr8 62626962 62626962 C T het . 2 +UTR5 ASPH(NM_004318:c.-74T>C,NM_032466:c.-74T>C,NM_001164755:c.-74T>C,NM_001164754:c.-74T>C,NM_001164756:c.-74T>C) chr8 62627004 62627004 A G het . 2 +intronic NKAIN3 chr8 63396174 63396174 A G het . 3 +intronic NKAIN3 chr8 63408923 63408923 A G het . 2 +intronic NKAIN3 chr8 63566728 63566728 - A het . 2 +intronic NKAIN3 chr8 63795245 63795245 A C het . 3 +intronic NKAIN3 chr8 63830636 63830636 T A het . 2 +intronic GGH chr8 63936606 63936606 C A het . 13 +intronic GGH chr8 63948131 63948131 T A het . 1 +intronic GGH chr8 63948134 63948134 A G het . 2 +intronic GGH chr8 63948186 63948187 AA - het . 6 +intronic GGH chr8 63948198 63948198 A C het . 6 +UTR5 GGH(NM_003878:c.-124T>G) chr8 63951451 63951451 A C het . 1 +intronic YTHDF3 chr8 64081982 64081982 T - het . 23 +intergenic YTHDF3(dist=216208),LOC102724612(dist=36853) chr8 64341554 64341554 A G het . 2 +intergenic CYP7B1(dist=308699),LINC00251(dist=53333) chr8 66020047 66020047 - A het . 2 +intergenic LINC00251(dist=42709),LINC01299(dist=303959) chr8 66135284 66135284 T C het . 2 +intergenic LINC00251(dist=53074),LINC01299(dist=293593) chr8 66145649 66145650 AA - het . 2 +ncRNA_intronic LINC01299 chr8 66456172 66456172 G T het . 1 +ncRNA_intronic LINC01299 chr8 66456186 66456186 A C het . 2 +intronic ARMC1 chr8 66522117 66522117 - AAAAAGAAA het . 2 +exonic MTFR1 chr8 66620292 66620292 C A het . 31 +intronic PDE7A chr8 66662269 66662269 G - het . 4 +intergenic PDE7A(dist=110662),DNAJC5B(dist=62582) chr8 66864631 66864631 G A het . 2 +intronic DNAJC5B chr8 66965428 66965428 A T het . 2 +intronic DNAJC5B chr8 67007648 67007648 C - het . 2 +intronic DNAJC5B chr8 67007650 67007650 C - het . 2 +intergenic LINC00967(dist=97383),RRS1-AS1(dist=124885) chr8 67206937 67206937 T C het . 3 +exonic MYBL1 chr8 67479002 67479002 C A het . 26 +exonic VCPIP1 chr8 67578264 67578264 A C het . 9 +intronic C8orf44,C8orf44-SGK3 chr8 67590460 67590460 C T het . 15 +intronic ARFGEF1 chr8 68139327 68139327 T - het . 6 +intronic ARFGEF1 chr8 68153857 68153857 A G het . 3 +intergenic CPA6(dist=29265),PREX2(dist=176465) chr8 68687885 68687885 T - het . 3 +intergenic CPA6(dist=93828),PREX2(dist=111902) chr8 68752448 68752448 C T het . 1 +intronic PREX2 chr8 69015147 69015147 C A het . 28 +intronic PREX2 chr8 69022966 69022966 C T het . 8 +intronic C8orf34 chr8 69437994 69437994 T C het . 3 +intronic C8orf34 chr8 69470435 69470435 A G het . 2 +intronic C8orf34 chr8 69506697 69506697 C T het . 2 +intronic C8orf34 chr8 69607484 69607484 C A het . 2 +intronic C8orf34 chr8 69647914 69647914 A G het . 3 +intergenic C8orf34(dist=20935),LINC01592(dist=71845) chr8 69752193 69752193 G T het . 2 +ncRNA_intronic LINC01592 chr8 69883505 69883505 C T het . 2 +ncRNA_intronic LINC01592 chr8 69965948 69965963 CAACAAAAACAAAAAT - het . 2 +ncRNA_intronic LINC01592 chr8 69971783 69971783 A T het . 1 +ncRNA_intronic LINC01592 chr8 69997363 69997363 C T het . 3 +intergenic LINC01592(dist=25518),LINC01603(dist=295163) chr8 70041943 70041943 T C het . 14 +intergenic LINC01592(dist=25548),LINC01603(dist=295133) chr8 70041973 70041973 A G het . 7 +intergenic LINC01592(dist=124881),LINC01603(dist=195800) chr8 70141306 70141306 - A het . 3 +intronic SULF1 chr8 70436379 70436379 C G het . 2 +intronic SULF1 chr8 70436405 70436405 - A het . 2 +intronic SULF1 chr8 70516940 70516940 G T het . 7 +intronic SULF1 chr8 70539911 70539911 G A het . 8 +intronic SULF1 chr8 70552363 70552363 - AAGA het . 2 +UTR3 SULF1(NM_015170:c.*437G>A,NM_001128204:c.*437G>A,NM_001128206:c.*437G>A,NM_001128205:c.*437G>A) chr8 70571207 70571207 G A het . 20 +intronic SLCO5A1 chr8 70594730 70594730 - T het . 3 +intergenic SLCO5A1(dist=88859),PRDM14(dist=127728) chr8 70836158 70836158 - A het . 3 +intergenic SLCO5A1(dist=171539),PRDM14(dist=45048) chr8 70918838 70918838 T C het . 3 +intergenic SLCO5A1(dist=175754),PRDM14(dist=40833) chr8 70923053 70923053 T C het . 2 +intergenic SLCO5A1(dist=208922),PRDM14(dist=7665) chr8 70956221 70956221 A - het . 3 +intergenic SLCO5A1(dist=210665),PRDM14(dist=5919) chr8 70957964 70957967 AATA - het . 2 +intronic PRDM14 chr8 70967727 70967727 T C het . 5 +intergenic NCOA2(dist=37162),LOC101926892(dist=29734) chr8 71353635 71353635 - AAG het . 2 +UTR3 TRAM1(NM_014294:c.*889_*890insT,NM_001317805:c.*889_*890insT,NM_001317804:c.*889_*890insT) chr8 71486277 71486277 - A het . 4 +UTR3 TRAM1(NM_014294:c.*599C>G,NM_001317805:c.*599C>G,NM_001317804:c.*599C>G) chr8 71486568 71486568 G C het . 14 +intergenic XKR9(dist=8369),EYA1(dist=453122) chr8 71656546 71656546 A - het . 2 +intergenic XKR9(dist=329596),EYA1(dist=131895) chr8 71977773 71977773 G A het . 3 +intergenic XKR9(dist=333429),EYA1(dist=128062) chr8 71981606 71981606 T C het . 2 +intronic EYA1 chr8 72127764 72127764 C A het . 26 +intronic EYA1 chr8 72129324 72129324 G C het . 22 +intronic EYA1 chr8 72156575 72156575 C A het . 5 +intronic EYA1 chr8 72245809 72245809 G T het . 2 +intronic EYA1 chr8 72266892 72266892 C A het . 10 +ncRNA_intronic MSC-AS1 chr8 72816545 72816545 T C het . 2 +ncRNA_intronic MSC-AS1 chr8 72914434 72914434 T - het . 13 +ncRNA_intronic MSC-AS1 chr8 72952145 72952145 C T het . 5 +ncRNA_intronic MSC-AS1 chr8 72952185 72952185 G A het . 6 +intergenic TRPA1(dist=33431),LOC392232(dist=93737) chr8 73021250 73021250 G - het . 2 +intergenic TRPA1(dist=33450),LOC392232(dist=93714) chr8 73021269 73021273 AAAAC - het . 2 +ncRNA_intronic LOC392232 chr8 73150830 73150830 T C het . 3 +intergenic LOC392232(dist=45754),KCNB2(dist=240003) chr8 73209623 73209623 A G het . 2 +intergenic LOC392232(dist=51467),KCNB2(dist=234290) chr8 73215336 73215336 G C het . 1 +intronic SBSPON chr8 73983989 73983990 AA - het . 4 +intronic SBSPON chr8 73983994 73983994 A T het . 4 +intergenic SBSPON(dist=120570),C8orf89(dist=27582) chr8 74126077 74126077 - A het . 3 +exonic RDH10 chr8 74231388 74231388 G A het . 12 +intergenic RDH10-AS1(dist=28178),STAU2-AS1(dist=35435) chr8 74296874 74296874 C A het . 2 +intergenic RDH10-AS1(dist=28186),STAU2-AS1(dist=35427) chr8 74296882 74296882 A - het . 2 +intronic STAU2 chr8 74358571 74358571 G T het . 1 +intronic STAU2 chr8 74374487 74374487 G A het . 2 +intronic STAU2 chr8 74398893 74398896 TTTT - het . 1 +intronic STAU2 chr8 74546693 74546693 G A het . 1 +intronic STAU2 chr8 74546701 74546701 C T het . 2 +intronic STAU2 chr8 74549864 74549864 A G het . 5 +intronic STAU2 chr8 74571214 74571214 T C het . 2 +intergenic LY96(dist=94864),JPH1(dist=110764) chr8 75036171 75036171 T C het . 2 +intergenic LY96(dist=104693),JPH1(dist=100935) chr8 75046000 75046000 G T het . 4 +intronic JPH1 chr8 75232941 75232941 C A het . 1 +intronic JPH1 chr8 75232955 75232955 G A het . 2 +intronic GDAP1 chr8 75272220 75272223 TGAA - het . 11 +intronic CRISPLD1 chr8 75944410 75944410 T - het . 17 +intergenic CRISPLD1(dist=112650),CASC9(dist=75909) chr8 76059443 76059443 A C het . 1 +intergenic CASC9(dist=22363),HNF4G(dist=106418) chr8 76213487 76213487 G A het . 1 +intronic HNF4G chr8 76354270 76354270 G A het . 1 +intergenic HNF4G(dist=20579),LINC01111(dist=819233) chr8 76499656 76499656 T - het . 2 +intergenic HNF4G(dist=263129),LINC01111(dist=576683) chr8 76742206 76742206 T C het . 2 +exonic ZFHX4 chr8 77767045 77767045 C T het . 7 +exonic ZFHX4 chr8 77776126 77776126 C A het . 30 +UTR3 ZFHX4(NM_024721:c.*48delA) chr8 77776849 77776849 A - het . 4 +intergenic ZFHX4(dist=21321),MIR3149(dist=78162) chr8 77800842 77800842 A G het . 2 +intergenic ZFHX4(dist=31701),MIR3149(dist=67782) chr8 77811222 77811222 C G het . 2 +exonic PEX2 chr8 77895865 77895865 A G het . 35 +intergenic PEX2(dist=48405),LOC102724874(dist=401248) chr8 77961685 77961685 A T het . 2 +intergenic PEX2(dist=97989),LOC102724874(dist=351664) chr8 78011269 78011269 T A het . 1 +intergenic LOC102724874(dist=114739),PKIA(dist=925030) chr8 78503306 78503306 T C het . 1 +intergenic LOC102724874(dist=200656),PKIA(dist=839113) chr8 78589223 78589223 C A het . 2 +intergenic LOC102724874(dist=395172),PKIA(dist=644597) chr8 78783739 78783739 G T het . 2 +intergenic LOC102724874(dist=583011),PKIA(dist=456758) chr8 78971578 78971578 G C het . 2 +intergenic LOC102724874(dist=651361),PKIA(dist=388408) chr8 79039928 79039928 A G het . 1 +intergenic LOC102724874(dist=658529),PKIA(dist=381240) chr8 79047096 79047096 G T het . 1 +intergenic LOC102724874(dist=810774),PKIA(dist=228995) chr8 79199341 79199341 T - het . 3 +intronic ZC2HC1A chr8 79587855 79587855 A G het . 11 +intronic ZC2HC1A chr8 79598667 79598670 TTTA - het . 9 +intronic ZC2HC1A chr8 79620908 79620908 T - het . 2 +intergenic IL7(dist=45161),STMN2(dist=760130) chr8 79762919 79762919 T C het . 2 +intergenic IL7(dist=65516),STMN2(dist=739775) chr8 79783274 79783274 C A het . 2 +intergenic IL7(dist=379403),STMN2(dist=425888) chr8 80097161 80097161 T C het . 3 +ncRNA_intronic LOC101927040 chr8 80724077 80724077 G T het . 3 +intronic MRPS28 chr8 80844740 80844740 C A het . 2 +intronic MRPS28 chr8 80930390 80930390 T C het . 2 +intergenic MIR5708(dist=93968),ZBTB10(dist=150178) chr8 81247676 81247676 C A het . 4 +intergenic MIR5708(dist=234109),ZBTB10(dist=10037) chr8 81387817 81387817 T A het . 2 +intronic ZBTB10 chr8 81426392 81426392 A G het . 3 +exonic ZNF704 chr8 81582739 81582739 C A het . 13 +intergenic PAG1(dist=109849),FABP5(dist=58566) chr8 82134152 82134152 T G het . 1 +intronic PMP2 chr8 82357484 82357484 G A het . 2 +intergenic PMP2(dist=5769),FABP9(dist=5088) chr8 82365527 82365530 TTTG - het . 3 +intronic IMPA1 chr8 82583151 82583151 T C het . 4 +exonic SNX16 chr8 82752039 82752039 C A het . 18 +intergenic SNX16(dist=16273),LOC101927141(dist=1053545) chr8 82770794 82770794 G A het . 2 +intergenic SNX16(dist=124143),LOC101927141(dist=945675) chr8 82878664 82878664 T - het . 2 +intergenic SNX16(dist=132166),LOC101927141(dist=937652) chr8 82886687 82886687 A T het . 1 +intergenic SNX16(dist=904670),LOC101927141(dist=165148) chr8 83659191 83659191 A G het . 1 +intergenic SNX16(dist=953032),LOC101927141(dist=116786) chr8 83707553 83707553 C T het . 3 +intergenic LOC101927141(dist=78428),LINC01419(dist=363406) chr8 83952587 83952587 A C het . 4 +intergenic LOC101927141(dist=78441),LINC01419(dist=363393) chr8 83952600 83952600 - AAACA het . 3 +intergenic LOC101927141(dist=320911),LINC01419(dist=120923) chr8 84195070 84195070 G T het . 1 +intergenic LOC101927141(dist=320930),LINC01419(dist=120904) chr8 84195089 84195089 T G het . 1 +intergenic LOC101927141(dist=349743),LINC01419(dist=92091) chr8 84223902 84223902 T C het . 2 +intergenic LOC101927141(dist=408439),LINC01419(dist=33392) chr8 84282598 84282601 ATAC - het . 2 +intergenic LINC01419(dist=200046),RALYL(dist=573844) chr8 84521178 84521178 C A het . 3 +intergenic LINC01419(dist=419093),RALYL(dist=354797) chr8 84740225 84740225 - AG het . 3 +intergenic LINC01419(dist=442792),RALYL(dist=331098) chr8 84763924 84763924 T - het . 2 +intergenic LINC01419(dist=754244),RALYL(dist=19646) chr8 85075376 85075376 G T het . 2 +intergenic LINC01419(dist=760487),RALYL(dist=13403) chr8 85081619 85081619 T G het . 2 +intergenic LINC01419(dist=771989),RALYL(dist=1901) chr8 85093121 85093121 A C het . 2 +intronic RALYL chr8 85121515 85121515 A G het . 2 +intronic RALYL chr8 85618375 85618375 C A het . 11 +UTR3 LRRCC1(NM_001349637:c.*149_*152delTATT,NM_001349636:c.*149_*152delTATT,NM_001349638:c.*149_*152delTATT,NM_001349639:c.*149_*152delTATT,NM_033402:c.*149_*152delTATT) chr8 86057895 86057898 TATT - het . 4 +exonic C8orf59 chr8 86126827 86126827 - AACATT het . 7 +intronic CA13 chr8 86163231 86163233 TTT - het . 6 +intergenic CA13(dist=6743),CA1(dist=37413) chr8 86203045 86203045 G - het . 1 +intronic CA1 chr8 86241720 86241720 A G het . 8 +intronic CA1 chr8 86254062 86254062 T A het . 10 +intergenic CA1(dist=58897),CA3(dist=1776) chr8 86349280 86349280 T C het . 2 +intronic CA2 chr8 86386052 86386052 T - het . 26 +intergenic CA2(dist=25087),REXO1L2P(dist=148020) chr8 86418808 86418808 - CAA het . 2 +exonic SLC7A13 chr8 87226635 87226642 CCGACATC - het . 19 +exonic WWP1 chr8 87450889 87450889 G T het . 27 +intronic WWP1 chr8 87452867 87452867 A T het . 17 +intronic WWP1 chr8 87455071 87455071 A - het . 3 +intronic WWP1 chr8 87466308 87466308 A G het . 2 +intronic WWP1 chr8 87473955 87473955 A T het . 17 +intronic RMDN1 chr8 87515610 87515610 A C het . 1 +intronic RMDN1 chr8 87515619 87515619 C A het . 1 +exonic CNGB3 chr8 87660035 87660035 C A het . 34 +intronic CNGB3 chr8 87680406 87680406 - A het . 20 +intronic CNGB3 chr8 87680921 87680921 C A het . 2 +intronic CNGB3 chr8 87751849 87751849 T - het . 3 +intronic CNBD1 chr8 87917501 87917501 C A het . 6 +intronic CNBD1 chr8 87975022 87975022 C A het . 1 +intronic CNBD1 chr8 88262049 88262049 G C het . 5 +intergenic CNBD1(dist=255232),DCAF4L2(dist=232784) chr8 88650187 88650187 G A het . 1 +intronic MMP16 chr8 89128708 89128708 - A het . 5 +exonic MMP16 chr8 89180061 89180061 C A het . 25 +intronic MMP16 chr8 89209151 89209151 - T het . 1 +intronic MMP16 chr8 89260705 89260705 A C het . 1 +intronic MMP16 chr8 89273011 89273011 T A het . 2 +intronic MMP16 chr8 89339214 89339214 C A het . 6 +intergenic MMP16(dist=42399),LOC101929709(dist=1347511) chr8 89382116 89382116 T A het . 1 +intergenic MMP16(dist=127764),LOC101929709(dist=1262146) chr8 89467481 89467481 T C het . 4 +intergenic MMP16(dist=127774),LOC101929709(dist=1262136) chr8 89467491 89467491 T G het . 4 +intergenic MMP16(dist=556825),LOC101929709(dist=833084) chr8 89896542 89896543 TT - het . 2 +intergenic MMP16(dist=1022922),LOC101929709(dist=366988) chr8 90362639 90362639 A C het . 2 +ncRNA_intronic LOC101929709 chr8 90763743 90763743 A G het . 3 +ncRNA_intronic LOC101929709 chr8 90763760 90763762 AAG - het . 3 +intronic RIPK2 chr8 90793583 90793591 TTTTTTTTT - het . 2 +intergenic RIPK2(dist=66737),OSGIN2(dist=44067) chr8 90870029 90870029 T - het . 2 +intronic OSGIN2 chr8 90921778 90921778 - T het . 11 +intronic OSGIN2 chr8 90924166 90924166 A - het . 2 +intronic OSGIN2 chr8 90924972 90924972 G C het . 2 +intronic OSGIN2 chr8 90926273 90926273 A C het . 12 +UTR3 NBN(NM_002485:c.*273G>A,NM_001024688:c.*273G>A) chr8 90947537 90947537 C T het . 3 +intronic CALB1 chr8 91081602 91081602 G A het . 3 +intergenic CALB1(dist=14250),LINC00534(dist=124357) chr8 91109359 91109359 T G het . 2 +ncRNA_intronic LINC00534 chr8 91287254 91287254 C T het . 1 +intronic NECAB1 chr8 91823088 91823088 C T het . 2 +intronic NECAB1 chr8 91825017 91825017 A C het . 1 +intronic NECAB1 chr8 91953138 91953138 G A het . 10 +intronic PIP4P2 chr8 92021036 92021036 C T het . 17 +intronic PIP4P2 chr8 92031660 92031660 C G het . 1 +intronic OTUD6B chr8 92083230 92083230 C T het . 5 +intronic LRRC69 chr8 92145323 92145323 T - het . 10 +intronic SLC26A7 chr8 92301249 92301249 G A het . 3 +intronic SLC26A7 chr8 92334137 92334137 T - het . 2 +exonic SLC26A7 chr8 92406078 92406078 A G het . 22 +intergenic SLC26A7(dist=364990),RUNX1T1(dist=191823) chr8 92775372 92775372 T G het . 2 +intergenic SLC26A7(dist=365004),RUNX1T1(dist=191809) chr8 92775386 92775386 G C het . 2 +intergenic MIR8084(dist=10402),C8orf87(dist=93855) chr8 94052469 94052469 A - het . 3 +intronic C8orf87 chr8 94147434 94147434 G A het . 6 +intronic C8orf87 chr8 94162412 94162412 G A het . 1 +intergenic C8orf87(dist=56166),LINC00535(dist=123450) chr8 94235245 94235245 G C het . 3 +intergenic C8orf87(dist=100225),LINC00535(dist=79391) chr8 94279304 94279304 A G het . 1 +intronic FAM92A chr8 94736911 94736911 C A het . 4 +exonic TMEM67 chr8 94768006 94768006 G T het . 14 +intronic TMEM67 chr8 94822200 94822200 T - het . 13 +intergenic TMEM67(dist=27664),MIR378D2(dist=70239) chr8 94858011 94858011 C G het . 2 +intergenic PDP1(dist=173595),CDH17(dist=27503) chr8 95111891 95111891 - G het . 2 +intergenic PDP1(dist=193317),CDH17(dist=7781) chr8 95131613 95131613 G T het . 2 +exonic CDH17 chr8 95178163 95178163 C A het . 20 +intronic CDH17 chr8 95182986 95182986 T C het . 5 +intergenic CDH17(dist=28616),GEM(dist=3338) chr8 95258147 95258147 C T het . 2 +intergenic CDH17(dist=29083),GEM(dist=2871) chr8 95258614 95258614 - G het . 2 +intergenic GEM(dist=101102),RAD54B(dist=8539) chr8 95375649 95375649 C G het . 1 +intronic RAD54B chr8 95406155 95406155 C A het . 18 +exonic VIRMA chr8 95547119 95547119 T G het . 1 +intergenic VIRMA(dist=21611),LOC100288748(dist=62156) chr8 95587357 95587357 A C het . 2 +intergenic VIRMA(dist=21617),LOC100288748(dist=62150) chr8 95587363 95587363 A - het . 2 +intergenic VIRMA(dist=46856),LOC100288748(dist=36911) chr8 95612602 95612602 G A het . 2 +intronic ESRP1 chr8 95675988 95675988 C A het . 4 +intronic ESRP1 chr8 95677132 95677132 T C het . 13 +intronic ESRP1 chr8 95718132 95718134 TTT - het . 10 +intergenic ESRP1(dist=2271),DPY19L4(dist=10138) chr8 95721965 95721965 T G het . 2 +intergenic ESRP1(dist=2290),DPY19L4(dist=10117) chr8 95721984 95721986 GTT - het . 2 +intergenic ESRP1(dist=2302),DPY19L4(dist=10101) chr8 95721996 95722002 TTTTTTT - het . 2 +intronic DPY19L4 chr8 95750547 95750547 A - het . 11 +intronic DPY19L4 chr8 95777579 95777580 TT - het . 13 +intronic INTS8 chr8 95878253 95878253 G A het . 10 +intronic INTS8 chr8 95886624 95886624 G A het . 5 +intronic CCNE2 chr8 95904195 95904195 C T het . 26 +intronic CCNE2 chr8 95904198 95904198 G A het . 26 +intronic NDUFAF6,TP53INP1 chr8 95944457 95944457 C T het . 12 +intronic NDUFAF6 chr8 96017062 96017062 A G het . 2 +splicing NDUFAF6(NM_001354524:exon5:UTR5,NM_001354522:exon5:UTR5,NM_001354516:exon5:c.264+2->A,NM_001354525:exon5:UTR5,NM_001354515:exon4:c.144+2->A,NM_001354534:exon4:c.87+2->A,NM_001354514:exon6:c.144+2->A,NM_001354530:exon4:UTR5,NM_001330582:exon3:c.144+2->A,NM_001354533:exon3:UTR5,NM_001354532:exon4:UTR5,NM_001354531:exon3:UTR5,NM_001354529:exon3:UTR5,NM_001354528:exon4:UTR5,NM_001354527:exon4:UTR5,NM_001354519:exon4:c.87+2->A,NM_001354517:exon2:c.87+2->A,NM_001354521:exon3:c.144+2->A,NM_001354518:exon4:c.87+2->A,NM_152416:exon3:c.420+2->A) chr8 96047806 96047806 - A het . 11 +intronic NDUFAF6 chr8 96058218 96058218 G A het . 4 +exonic NDUFAF6 chr8 96064416 96064416 C A het . 39 +downstream C8orf37(dist=18) chr8 96257123 96257123 C A het . 3 +downstream C8orf37(dist=15) chr8 96257126 96257126 C A het . 3 +ncRNA_intronic C8orf37-AS1 chr8 96394588 96394588 T G het . 1 +ncRNA_intronic C8orf37-AS1 chr8 96500800 96500800 T C het . 1 +ncRNA_intronic C8orf37-AS1 chr8 96725932 96725932 T G het . 1 +ncRNA_intronic C8orf37-AS1 chr8 96754956 96754956 C T het . 2 +intergenic LOC100500773(dist=44597),GDF6(dist=149388) chr8 97005173 97005173 G A het . 2 +UTR3 UQCRB(NM_001199975:c.*1802C>T,NM_006294:c.*1802C>T,NM_001254752:c.*1852C>T) chr8 97241481 97241481 G A het . 18 +upstream SDC2(dist=802) chr8 97505080 97505080 C T het . 2 +intronic SDC2 chr8 97588607 97588612 GTTTTG - het . 1 +exonic CPQ chr8 97892119 97892119 G A het . 19 +ncRNA_intronic LOC101927066 chr8 98230404 98230404 C T het . 1 +ncRNA_intronic LOC101927066 chr8 98363402 98363402 C A het . 3 +intergenic LOC101927066(dist=169140),MTDH(dist=28547) chr8 98627865 98627865 T A het . 1 +intronic MTDH chr8 98712108 98712108 T - het . 4 +intergenic MTDH(dist=9079),LAPTM4B(dist=36449) chr8 98751567 98751567 C T het . 2 +intronic LAPTM4B chr8 98817559 98817559 - G het . 6 +exonic LAPTM4B chr8 98827607 98827607 T A het . 25 +exonic LAPTM4B chr8 98827613 98827613 C A het . 24 +intronic LAPTM4B chr8 98827636 98827636 C A het . 15 +intergenic LAPTM4B(dist=12707),MATN2(dist=3712) chr8 98877537 98877537 T C het . 16 +intergenic LAPTM4B(dist=12729),MATN2(dist=3690) chr8 98877559 98877559 T A het . 14 +intergenic LAPTM4B(dist=12735),MATN2(dist=3684) chr8 98877565 98877565 T A het . 14 +intronic MATN2 chr8 99033328 99033328 A G het . 8 +intronic RPL30 chr8 99054796 99054796 C T het . 12 +intronic RIDA chr8 99118625 99118625 C A het . 18 +intronic RIDA chr8 99118654 99118654 C T het . 12 +intronic POP1 chr8 99139610 99139610 C T het . 3 +intronic POP1 chr8 99160836 99160836 A C het . 3 +intronic NIPAL2 chr8 99249299 99249299 T - het . 3 +intronic NIPAL2 chr8 99271298 99271298 C T het . 2 +exonic STK3 chr8 99468191 99468191 A T het . 18 +intergenic OSR2(dist=21175),VPS13B(dist=39987) chr8 99985507 99985507 - AAAC het . 4 +intronic VPS13B chr8 100039769 100039771 GTG - het . 2 +intronic VPS13B chr8 100044930 100044930 T - het . 2 +intronic VPS13B chr8 100089848 100089848 T C het . 2 +intronic VPS13B chr8 100108715 100108715 G T het . 23 +intronic VPS13B chr8 100125215 100125215 T C het . 1 +exonic VPS13B chr8 100133706 100133706 T G het . 9 +intronic VPS13B chr8 100160283 100160283 T - het . 17 +intronic VPS13B chr8 100196788 100196788 A G het . 2 +intronic VPS13B chr8 100286788 100286788 A - het . 2 +intronic VPS13B chr8 100287518 100287518 T - het . 7 +intronic VPS13B chr8 100287579 100287579 G C het . 6 +exonic VPS13B chr8 100523676 100523676 T A het . 35 +exonic VPS13B chr8 100732612 100732612 C A het . 31 +exonic VPS13B chr8 100733216 100733216 C A het . 19 +intronic VPS13B chr8 100871752 100871753 TT - het . 13 +intronic VPS13B chr8 100871767 100871767 A T het . 18 +intronic RGS22 chr8 101002845 101002845 G T het . 2 +intronic RGS22 chr8 101020548 101020548 C G het . 11 +intronic SPAG1 chr8 101196078 101196082 AATAT - het . 11 +intronic SPAG1 chr8 101196085 101196085 A - het . 12 +intronic SPAG1 chr8 101196087 101196093 CCAAAGG - het . 13 +intronic RNF19A chr8 101312665 101312665 C T het . 1 +intronic SNX31 chr8 101629996 101629996 T - het . 11 +exonic SNX31 chr8 101648164 101648164 C G het . 15 +exonic PABPC1 chr8 101717819 101717819 A G het . 23 +exonic PABPC1 chr8 101717832 101717832 G C het . 24 +exonic PABPC1 chr8 101724994 101724994 - A het . 17 +exonic PABPC1 chr8 101725000 101725000 G A het . 14 +exonic PABPC1 chr8 101725003 101725003 C A het . 15 +splicing PABPC1(NM_002568:exon6:c.739-1G>A) chr8 101725018 101725018 C T het . 13 +exonic PABPC1 chr8 101727714 101727714 G A het . 13 +exonic PABPC1 chr8 101727716 101727716 C T het . 13 +exonic PABPC1 chr8 101730010 101730010 T C het . 17 +exonic PABPC1 chr8 101730036 101730036 - C het . 31 +exonic PABPC1 chr8 101730043 101730043 G C het . 34 +exonic PABPC1 chr8 101730064 101730064 G A het . 39 +exonic PABPC1 chr8 101730073 101730073 T C het . 39 +intergenic PABPC1(dist=80207),YWHAZ(dist=116282) chr8 101814522 101814522 G A het . 2 +intergenic PABPC1(dist=88422),YWHAZ(dist=108065) chr8 101822737 101822739 CAG - het . 6 +intronic GRHL2 chr8 102564782 102564782 C A het . 6 +intronic GRHL2 chr8 102570634 102570634 T G het . 24 +intronic GRHL2 chr8 102595587 102595587 A G het . 1 +intronic GRHL2 chr8 102611383 102611383 A G het . 37 +UTR3 NCALD(NM_001040625:c.*401_*400delinsGG,NM_001040624:c.*401_*400delinsGG,NM_032041:c.*401_*400delinsGG,NM_001040630:c.*401_*400delinsGG,NM_001040629:c.*401_*400delinsGG,NM_001040628:c.*401_*400delinsGG,NM_001040627:c.*401_*400delinsGG,NM_001040626:c.*401_*400delinsGG) chr8 102701136 102701137 TT CC het . 7 +intronic RRM2B chr8 103230954 103230956 AAA - het . 12 +intronic RRM2B chr8 103236415 103236416 TT - het . 24 +intronic UBR5 chr8 103287724 103287724 T A het . 18 +intronic UBR5 chr8 103300646 103300646 G A het . 2 +intronic UBR5 chr8 103311667 103311667 T G het . 6 +intronic UBR5 chr8 103326826 103326826 A - het . 6 +intronic UBR5 chr8 103341643 103341643 C A het . 5 +intronic UBR5 chr8 103424383 103424383 A C het . 10 +intergenic UBR5(dist=92202),ODF1(dist=46729) chr8 103517119 103517119 - TTTTG het . 3 +intergenic UBR5(dist=92225),ODF1(dist=46706) chr8 103517142 103517142 A G het . 3 +exonic ODF1 chr8 103572992 103572992 C G het . 15 +exonic ODF1 chr8 103573001 103573001 C G het . 14 +exonic ODF1 chr8 103573006 103573006 G A het . 11 +exonic AZIN1 chr8 103845430 103845430 C A het . 16 +ncRNA_intronic AZIN1-AS1 chr8 103935290 103935290 C T het . 2 +ncRNA_intronic AZIN1-AS1 chr8 103935309 103935309 - TTATTT het . 2 +exonic FZD6 chr8 104341978 104341978 C A het . 17 +UTR3 FZD6(NM_001164615:c.*85A>G,NM_001164616:c.*85A>G,NM_003506:c.*85A>G,NM_001317796:c.*85A>G) chr8 104343822 104343822 A G het . 9 +intergenic FZD6(dist=29206),CTHRC1(dist=9443) chr8 104374300 104374300 A C het . 2 +intergenic FZD6(dist=31531),CTHRC1(dist=7118) chr8 104376625 104376625 A G het . 3 +ncRNA_exonic LOC105375690 chr8 104494198 104494198 - A het . 2 +ncRNA_intronic LOC105375690 chr8 104508266 104508266 T - het . 2 +intronic RIMS2 chr8 104527146 104527146 C A het . 2 +intronic RIMS2 chr8 104576147 104576147 G A het . 2 +intronic RIMS2 chr8 104680912 104680912 G T het . 2 +intronic RIMS2 chr8 104723829 104723829 T C het . 1 +UTR5 RIMS2(NM_001282881:c.-90C>A,NM_001348504:c.-90C>A,NM_001348509:c.-90C>A,NM_001348508:c.-90C>A,NM_001348507:c.-90C>A,NM_001348501:c.-90C>A,NM_001348506:c.-90C>A,NM_001348500:c.-90C>A,NM_001348499:c.-90C>A,NM_001348498:c.-90C>A,NM_001348505:c.-90C>A,NM_014677:c.-90C>A,NM_001348503:c.-90C>A,NM_001348502:c.-90C>A) chr8 104831646 104831646 C A het . 24 +intronic RIMS2 chr8 104876116 104876116 T - het . 2 +intronic RIMS2 chr8 104876136 104876136 G - het . 2 +intronic RIMS2 chr8 104930646 104930646 C T het . 3 +intronic RIMS2 chr8 104934979 104934979 T G het . 21 +intronic RIMS2 chr8 105001366 105001366 C T het . 3 +intronic RIMS2 chr8 105085082 105085082 T G het . 2 +intergenic RIMS2(dist=52159),DCSTAMP(dist=33209) chr8 105318815 105318815 C T het . 2 +intronic DPYS chr8 105440418 105440419 CC TT het . 14 +intergenic LRP12(dist=112635),ZFPM2(dist=617260) chr8 105713887 105713887 T C het . 2 +intergenic LRP12(dist=260385),ZFPM2(dist=469510) chr8 105861637 105861637 - A het . 3 +intergenic LRP12(dist=260471),ZFPM2(dist=469423) chr8 105861723 105861724 TG - het . 4 +intronic ZFPM2 chr8 106559799 106559799 A C het . 4 +intronic ZFPM2 chr8 106621481 106621481 C G het . 4 +intergenic ZFPM2-AS1(dist=132052),OXR1(dist=77623) chr8 107204783 107204783 G T het . 2 +intronic OXR1 chr8 107704922 107704922 T - het . 8 +intergenic ABRA(dist=360294),ANGPT1(dist=118941) chr8 108142766 108142769 TTTC - het . 1 +intronic ANGPT1 chr8 108385500 108385500 - TTA het . 2 +intronic ANGPT1 chr8 108385523 108385523 G A het . 2 +intergenic ANGPT1(dist=11288),RSPO2(dist=389972) chr8 108521571 108521572 AA - het . 2 +intergenic ANGPT1(dist=276531),RSPO2(dist=124730) chr8 108786814 108786814 T C het . 1 +intronic RSPO2 chr8 108982905 108982905 G C het . 2 +intergenic RSPO2(dist=70019),EIF3E(dist=48040) chr8 109165932 109165932 A G het . 1 +intergenic RSPO2(dist=114413),EIF3E(dist=3646) chr8 109210326 109210326 G C het . 2 +upstream EMC2(dist=10) chr8 109455802 109455802 G A het . 5 +intergenic TMEM74(dist=224060),TRHR(dist=75749) chr8 110023904 110023904 G A het . 1 +intronic TRHR chr8 110104618 110104618 C A het . 2 +intronic TRHR chr8 110104653 110104653 T A het . 2 +intergenic TRHR(dist=36200),NUDCD1(dist=85136) chr8 110168012 110168012 T C het . 2 +intergenic TRHR(dist=91075),NUDCD1(dist=30261) chr8 110222887 110222887 A G het . 2 +intergenic ENY2(dist=5461),PKHD1L1(dist=11056) chr8 110363650 110363650 A T het . 2 +exonic PKHD1L1 chr8 110376861 110376861 G A het . 13 +intronic PKHD1L1 chr8 110402456 110402456 T G het . 2 +intronic PKHD1L1 chr8 110413824 110413824 C T het . 17 +exonic PKHD1L1 chr8 110420384 110420384 T C het . 9 +intronic PKHD1L1 chr8 110447610 110447610 G A het . 4 +intronic PKHD1L1 chr8 110450491 110450491 C A het . 12 +exonic PKHD1L1 chr8 110457864 110457864 C T het . 14 +intronic PKHD1L1 chr8 110473965 110473966 AA TT het . 15 +intronic PKHD1L1 chr8 110473966 110473966 A T het . 15 +intronic PKHD1L1 chr8 110483296 110483296 T A het . 2 +intronic PKHD1L1 chr8 110488580 110488580 G A het . 2 +intronic PKHD1L1 chr8 110492754 110492754 C A het . 11 +intronic PKHD1L1 chr8 110495192 110495192 T A het . 11 +intronic PKHD1L1 chr8 110503922 110503922 G A het . 6 +intronic PKHD1L1 chr8 110504355 110504355 - A het . 5 +intronic PKHD1L1 chr8 110504357 110504357 T A het . 5 +intronic PKHD1L1 chr8 110505866 110505866 - T het . 11 +intronic PKHD1L1 chr8 110505886 110505886 C T het . 12 +exonic PKHD1L1 chr8 110539106 110539108 GCA - het . 18 +intronic EBAG9 chr8 110567215 110567215 T - het . 10 +exonic SYBU chr8 110587969 110587969 G A het . 18 +intronic SYBU chr8 110589975 110589975 A C het . 6 +exonic SYBU chr8 110592151 110592151 A G het . 27 +intergenic SYBU(dist=42768),KCNV1(dist=229086) chr8 110746788 110746788 C G het . 1 +exonic KCNV1 chr8 110980639 110980639 C A het . 19 +intergenic KCNV1(dist=797196),LINC01608(dist=164647) chr8 111785272 111785272 C G het . 1 +ncRNA_intronic LINC01608 chr8 111979211 111979211 A G het . 3 +ncRNA_intronic LINC01608 chr8 111979218 111979218 C A het . 1 +ncRNA_intronic LINC02237 chr8 112471620 112471620 T C het . 2 +intergenic LINC02237(dist=168910),CSMD3(dist=583402) chr8 112651756 112651756 G T het . 1 +intronic CSMD3 chr8 113301936 113301936 T A het . 4 +intronic CSMD3 chr8 113301974 113301974 C T het . 3 +intronic CSMD3 chr8 113304534 113304534 T C het . 7 +intronic CSMD3 chr8 113308243 113308243 A G het . 26 +intronic CSMD3 chr8 113332418 113332418 T C het . 8 +exonic CSMD3 chr8 113349035 113349035 C A het . 35 +intronic CSMD3 chr8 113360518 113360518 A G het . 2 +intronic CSMD3 chr8 113363350 113363350 T C het . 18 +intronic CSMD3 chr8 113506558 113506558 - CTTT het . 2 +intronic CSMD3 chr8 113516209 113516209 G - het . 22 +intronic CSMD3 chr8 113516209 113516209 G A het . 22 +intronic CSMD3 chr8 113557731 113557733 AAT - het . 2 +intronic CSMD3 chr8 113599196 113599196 T C het . 3 +intronic CSMD3 chr8 113599207 113599207 A G het . 8 +intronic CSMD3 chr8 113599281 113599281 C A het . 23 +intronic CSMD3 chr8 113830769 113830769 G T het . 1 +intronic CSMD3 chr8 113871290 113871290 C T het . 7 +intronic CSMD3 chr8 113986789 113986789 C T het . 2 +intergenic CSMD3(dist=99566),TRPS1(dist=1871916) chr8 114548808 114548808 T C het . 2 +intergenic CSMD3(dist=447464),TRPS1(dist=1524018) chr8 114896706 114896706 C G het . 2 +intergenic CSMD3(dist=477821),TRPS1(dist=1493661) chr8 114927063 114927063 A C het . 1 +intergenic CSMD3(dist=535392),TRPS1(dist=1436090) chr8 114984634 114984634 T G het . 2 +intergenic CSMD3(dist=1193664),TRPS1(dist=777818) chr8 115642906 115642906 - T het . 2 +intergenic CSMD3(dist=1714547),TRPS1(dist=256932) chr8 116163789 116163792 TTGT - het . 2 +intronic TRPS1 chr8 116531797 116531797 G A het . 2 +intronic TRPS1 chr8 116591906 116591906 T C het . 2 +exonic TRPS1 chr8 116635845 116635845 G A het . 31 +UTR5 TRPS1(NM_014112:c.-9_-8insT,NM_001282903:c.-16_-15insT) chr8 116635872 116635872 - A het . 29 +intergenic TRPS1(dist=137616),LINC00536(dist=143862) chr8 116818871 116818874 AGAC - het . 2 +ncRNA_intronic LINC00536 chr8 117046455 117046455 G A het . 2 +ncRNA_intronic LINC00536 chr8 117177462 117177462 - T het . 2 +ncRNA_intronic LINC00536 chr8 117188420 117188420 T A het . 2 +ncRNA_intronic LINC00536 chr8 117237979 117237980 AG - het . 2 +ncRNA_intronic LINC00536 chr8 117252136 117252136 T A het . 2 +ncRNA_intronic LINC00536 chr8 117314707 117314707 G T het . 1 +intronic EIF3H chr8 117668389 117668389 G A het . 2 +intronic RAD21 chr8 117861113 117861113 T - het . 6 +intronic RAD21 chr8 117866343 117866343 C A het . 7 +ncRNA_exonic RAD21-AS1 chr8 117887122 117887122 C - het . 11 +intronic SLC30A8 chr8 118184731 118184731 C A het . 20 +intergenic SLC30A8(dist=171044),MED30(dist=172955) chr8 118359997 118359997 T C het . 1 +intronic MED30 chr8 118535435 118535435 T - het . 8 +intronic MED30 chr8 118535449 118535449 - T het . 10 +intergenic MED30(dist=40675),EXT1(dist=218426) chr8 118593176 118593176 C A het . 2 +UTR3 EXT1(NM_000127:c.*45T>G) chr8 118811906 118811906 A C het . 5 +intronic EXT1 chr8 119050768 119050768 C A het . 3 +intronic SAMD12 chr8 119224622 119224622 C T het . 2 +intronic COLEC10 chr8 120011832 120011832 - A het . 3 +intergenic NOV(dist=113682),ENPP2(dist=18957) chr8 120550360 120550360 C T het . 2 +intergenic NOV(dist=113717),ENPP2(dist=18922) chr8 120550395 120550395 A G het . 2 +intronic ENPP2 chr8 120576925 120576925 T A het . 5 +intronic ENPP2 chr8 120580640 120580640 G T het . 3 +intronic ENPP2 chr8 120599245 120599245 C T het . 12 +intergenic ENPP2(dist=47074),TAF2(dist=10124) chr8 120732890 120732890 A - het . 2 +intronic TAF2 chr8 120768130 120768130 A - het . 25 +intronic TAF2 chr8 120793175 120793175 A - het . 6 +intronic TAF2 chr8 120831359 120831359 C A het . 3 +intronic TAF2 chr8 120831493 120831493 A - het . 21 +intergenic DSCC1(dist=15461),DEPTOR(dist=2261) chr8 120883631 120883634 CTCA - het . 2 +UTR5 DEPTOR(NM_001283012:c.-33C>A,NM_022783:c.-33C>A) chr8 120886054 120886054 C A het . 4 +intronic DEPTOR chr8 120902518 120902518 - G het . 2 +intronic DEPTOR chr8 120902519 120902519 - TTG het . 2 +intronic DEPTOR chr8 120923600 120923600 C T het . 2 +intronic DEPTOR chr8 121007183 121007183 G C het . 4 +intronic COL14A1 chr8 121190225 121190225 T G het . 2 +exonic COL14A1 chr8 121210069 121210069 T C het . 9 +exonic COL14A1 chr8 121292322 121292322 C T het . 15 +intronic MTBP chr8 121509825 121509825 - TTT het . 15 +intronic MTBP chr8 121530385 121530386 TT - het . 8 +intronic SNTB1 chr8 121584007 121584007 G A het . 2 +intronic SNTB1 chr8 121591454 121591454 A G het . 5 +intronic SNTB1 chr8 121593350 121593350 G A het . 1 +intronic SNTB1 chr8 121621236 121621236 G A het . 2 +intergenic SNTB1(dist=348414),HAS2(dist=452548) chr8 122172723 122172723 C A het . 4 +intergenic SNTB1(dist=471994),HAS2(dist=328968) chr8 122296303 122296303 C T het . 2 +intergenic SNTB1(dist=786860),HAS2(dist=14102) chr8 122611169 122611169 G T het . 2 +intergenic HAS2-AS1(dist=54927),SMILR(dist=714075) chr8 122712491 122712491 C T het . 2 +intergenic SMILR(dist=81905),LINC01151(dist=19836) chr8 123662788 123662788 G A het . 2 +intergenic SMILR(dist=81941),LINC01151(dist=19800) chr8 123662824 123662824 T C het . 2 +ncRNA_intronic LINC01151 chr8 123683635 123683635 G T het . 8 +ncRNA_intronic LINC01151 chr8 123683643 123683643 A - het . 6 +intergenic ZHX2(dist=30264),DERL1(dist=8385) chr8 124017019 124017019 G A het . 1 +intronic DERL1 chr8 124031607 124031607 C A het . 17 +intronic TBC1D31 chr8 124139013 124139013 G A het . 9 +intronic TBC1D31 chr8 124144800 124144800 C T het . 3 +intronic TBC1D31 chr8 124154725 124154725 T A het . 2 +intronic TBC1D31 chr8 124154738 124154738 T - het . 5 +intronic TBC1D31 chr8 124157167 124157167 T - het . 5 +exonic ZHX1 chr8 124265903 124265903 C A het . 20 +splicing ATAD2(NM_014109:exon26:c.4002+1G>T) chr8 124338132 124338132 C A het . 10 +intronic WDYHV1 chr8 124435553 124435553 - TC het . 3 +intergenic WDYHV1(dist=19414),FBXO32(dist=36233) chr8 124473894 124473894 T C het . 1 +exonic KLHL38 chr8 124664873 124664874 AT GC het . 8 +intergenic FAM91A1(dist=14928),FER1L6(dist=21609) chr8 124842618 124842618 T C het . 2 +intronic FER1L6 chr8 124917054 124917054 C T het . 1 +intronic FER1L6 chr8 124968333 124968333 T G het . 16 +exonic FER1L6 chr8 124982301 124982301 C T het . 25 +ncRNA_intronic FER1L6-AS2 chr8 125085304 125085304 - C het . 2 +exonic FER1L6 chr8 125113362 125113362 C A het . 14 +ncRNA_intronic FER1L6-AS2 chr8 125155194 125155194 C T het . 10 +ncRNA_intronic FER1L6-AS2 chr8 125155706 125155706 G A het . 10 +intergenic FER1L6-AS2(dist=5149),LOC101927588(dist=16020) chr8 125188912 125188912 C T het . 2 +intronic TMEM65 chr8 125349177 125349177 A G het . 2 +intronic TMEM65 chr8 125351607 125351607 A - het . 2 +UTR5 TMEM65(NM_194291:c.-506_-505insGGC) chr8 125384903 125384903 - GCC het . 3 +intergenic TMEM65(dist=34811),TRMT12(dist=43297) chr8 125419751 125419751 C G het . 2 +intronic MTSS1 chr8 125568182 125568182 A - het . 9 +intronic MTSS1 chr8 125568183 125568184 GG - het . 8 +intronic MTSS1 chr8 125570144 125570144 G A het . 7 +intronic MTSS1 chr8 125579060 125579060 A C het . 2 +intronic MTSS1 chr8 125739749 125739749 A G het . 2 +intergenic MIR4662B(dist=99818),LINC00964(dist=20132) chr8 125934118 125934118 C A het . 23 +exonic ZNF572 chr8 125990099 125990099 G C het . 8 +intronic SQLE chr8 126015400 126015400 - T het . 5 +intronic NSMCE2 chr8 126337757 126337757 A - het . 1 +intronic NSMCE2 chr8 126376477 126376477 T C het . 2 +intergenic NSMCE2(dist=60839),TRIB1(dist=2354) chr8 126440206 126440209 AACT - het . 2 +intergenic LINC00861(dist=57654),LOC101927657(dist=316645) chr8 127021095 127021095 G A het . 2 +intergenic LINC00861(dist=121578),LOC101927657(dist=252721) chr8 127085019 127085019 G T het . 3 +intergenic LINC00861(dist=121753),LOC101927657(dist=252546) chr8 127085194 127085194 G C het . 6 +intergenic LINC00861(dist=123065),LOC101927657(dist=251230) chr8 127086506 127086510 AAAAA - het . 2 +intergenic LINC00861(dist=212022),LOC101927657(dist=162277) chr8 127175463 127175463 C T het . 1 +intergenic LOC101927657(dist=108974),FAM84B(dist=113931) chr8 127450752 127450752 T G het . 1 +intergenic LOC101927657(dist=134757),FAM84B(dist=88148) chr8 127476535 127476535 A - het . 4 +intergenic LOC101927657(dist=134789),FAM84B(dist=88116) chr8 127476567 127476567 G A het . 5 +ncRNA_exonic PRNCR1 chr8 128098892 128098892 T G het . 10 +ncRNA_exonic PRNCR1 chr8 128098897 128098898 AT CG het . 12 +ncRNA_exonic PRNCR1 chr8 128098908 128098908 T G het . 13 +intergenic PRNCR1(dist=26257),CASC19(dist=68931) chr8 128131097 128131100 TATT - het . 2 +ncRNA_intronic CASC21 chr8 128286567 128286567 T C het . 1 +intergenic MYC(dist=9945),PVT1(dist=41637) chr8 128765142 128765142 C T het . 1 +ncRNA_intronic PVT1 chr8 128910117 128910120 GAAA - het . 2 +ncRNA_intronic PVT1 chr8 129053797 129053800 ATGT - het . 1 +ncRNA_intronic PVT1 chr8 129053813 129053814 TG - het . 1 +ncRNA_intronic PVT1 chr8 129053838 129053838 G A het . 1 +ncRNA_intronic PVT1 chr8 129109601 129109601 A C het . 2 +downstream PVT1(dist=864) chr8 129114363 129114363 G A het . 3 +upstream MIR1208(dist=123) chr8 129162239 129162239 C T het . 7 +intergenic MIR1208(dist=89905),LINC00824(dist=165177) chr8 129252339 129252339 A T het . 2 +intergenic MIR1208(dist=223166),LINC00824(dist=31916) chr8 129385600 129385600 G T het . 2 +intergenic MIR1208(dist=223187),LINC00824(dist=31895) chr8 129385621 129385621 A G het . 2 +intergenic MIR1208(dist=232034),LINC00824(dist=23048) chr8 129394468 129394468 C T het . 5 +ncRNA_intronic LINC00824 chr8 129560728 129560728 - TTTC het . 4 +ncRNA_intronic LINC00824 chr8 129560744 129560744 A C het . 3 +intergenic LINC00824(dist=266902),LINC00976(dist=121298) chr8 129843827 129843827 G A het . 1 +intergenic LINC00824(dist=266904),LINC00976(dist=121296) chr8 129843829 129843829 A T het . 1 +intergenic LINC00976(dist=42280),LINC00977(dist=208185) chr8 130020527 130020528 AA - het . 2 +ncRNA_intronic CCDC26 chr8 130533451 130533451 C A het . 2 +ncRNA_intronic CCDC26 chr8 130580108 130580108 A C het . 2 +ncRNA_intronic CCDC26 chr8 130690512 130690512 G C het . 1 +intronic GSDMC chr8 130788320 130788320 C A het . 2 +intronic FAM49B chr8 130874610 130874610 G T het . 20 +intronic FAM49B chr8 130874615 130874617 AAA - het . 16 +intronic FAM49B chr8 131024107 131024107 A T het . 2 +intronic FAM49B chr8 131027403 131027403 A G het . 1 +exonic ASAP1 chr8 131072829 131072829 T C het . 2 +intronic ASAP1 chr8 131279370 131279370 A - het . 6 +intronic ASAP1 chr8 131301457 131301457 A C het . 2 +intronic ASAP1 chr8 131324187 131324187 G A het . 3 +intronic ASAP1 chr8 131340265 131340265 G A het . 2 +intronic ASAP1 chr8 131386596 131386596 T C het . 2 +intergenic ASAP1(dist=110641),ADCY8(dist=226000) chr8 131566547 131566547 T - het . 3 +intergenic ASAP1(dist=288234),ADCY8(dist=48407) chr8 131744140 131744140 T C het . 4 +intronic ADCY8 chr8 131848465 131848465 A G het . 5 +intronic ADCY8 chr8 131859769 131859772 AAAA - het . 5 +intronic ADCY8 chr8 131880292 131880292 T A het . 3 +exonic ADCY8 chr8 132052507 132052507 C T het . 9 +intergenic ADCY8(dist=54950),EFR3A(dist=808550) chr8 132107785 132107785 C A het . 3 +intergenic ADCY8(dist=163788),EFR3A(dist=699712) chr8 132216623 132216623 G A het . 1 +intergenic ADCY8(dist=379856),EFR3A(dist=483644) chr8 132432691 132432691 C T het . 2 +intergenic ADCY8(dist=581527),EFR3A(dist=281973) chr8 132634362 132634362 C T het . 1 +intergenic ADCY8(dist=618173),EFR3A(dist=245324) chr8 132671008 132671011 TTTG - het . 2 +intergenic ADCY8(dist=661140),EFR3A(dist=202360) chr8 132713975 132713975 A C het . 2 +intergenic ADCY8(dist=661155),EFR3A(dist=202344) chr8 132713990 132713991 TT - het . 1 +exonic OC90 chr8 133036858 133036858 G T het . 13 +intronic OC90 chr8 133058325 133058325 A G het . 5 +intronic KCNQ3 chr8 133142310 133142310 G C het . 7 +intronic KCNQ3 chr8 133142330 133142331 TG GC het . 7 +intronic KCNQ3 chr8 133199407 133199407 C T het . 17 +intronic KCNQ3 chr8 133199411 133199411 G T het . 17 +intronic KCNQ3 chr8 133222868 133222868 G A het . 3 +intronic KCNQ3 chr8 133400282 133400282 G T het . 4 +intergenic HPYR1(dist=7656),LRRC6(dist=1285) chr8 133581382 133581382 A - het . 3 +intronic PHF20L1 chr8 133829959 133829959 T G het . 3 +intronic TG chr8 133885266 133885266 C A het . 18 +exonic TG chr8 133906108 133906108 C A het . 27 +intronic TG chr8 133920624 133920624 C G het . 16 +intronic TG chr8 133981505 133981505 C T het . 8 +intronic TG chr8 133984821 133984821 G T het . 13 +exonic TG chr8 134107334 134107334 C A het . 36 +exonic TG chr8 134125682 134125682 G A het . 24 +intronic NDRG1 chr8 134260047 134260047 C A het . 17 +intronic NDRG1 chr8 134274674 134274674 T C het . 3 +intergenic ST3GAL1(dist=28509),LOC105375773(dist=63312) chr8 134612692 134612692 A G het . 2 +intergenic ST3GAL1(dist=28516),LOC105375773(dist=63305) chr8 134612699 134612699 G A het . 2 +intergenic ST3GAL1(dist=60760),LOC105375773(dist=31061) chr8 134644943 134644943 A - het . 2 +ncRNA_intronic LOC105375773 chr8 134688631 134688631 G A het . 4 +intergenic LOC101927822(dist=460161),ZFAT(dist=115220) chr8 135374811 135374811 A G het . 2 +intergenic LOC101927822(dist=525711),ZFAT(dist=49670) chr8 135440361 135440361 A T het . 3 +intronic ZFAT chr8 135600405 135600405 C T het . 5 +intronic ZFAT chr8 135602685 135602687 CCA - het . 10 +intronic ZFAT chr8 135646313 135646313 - AAC het . 5 +intronic ZFAT chr8 135646340 135646340 T C het . 5 +intergenic LOC101927845(dist=223741),LINC01591(dist=128491) chr8 136117883 136117883 T C het . 1 +intergenic KHDRBS3(dist=131589),LINC02055(dist=751600) chr8 136791441 136791441 A - het . 1 +intergenic KHDRBS3(dist=131590),LINC02055(dist=751599) chr8 136791442 136791442 A G het . 1 +intergenic KHDRBS3(dist=290014),LINC02055(dist=593169) chr8 136949866 136949872 CTCTCTC - het . 3 +intergenic KHDRBS3(dist=374100),LINC02055(dist=509089) chr8 137033952 137033952 A G het . 2 +intergenic KHDRBS3(dist=385021),LINC02055(dist=498168) chr8 137044873 137044873 G A het . 1 +intergenic KHDRBS3(dist=405559),LINC02055(dist=477630) chr8 137065411 137065411 G T het . 2 +intergenic KHDRBS3(dist=472816),LINC02055(dist=410373) chr8 137132668 137132668 C T het . 1 +intergenic KHDRBS3(dist=488457),LINC02055(dist=394728) chr8 137148309 137148313 TTTGT - het . 2 +ncRNA_intronic LINC02055 chr8 137563420 137563420 T - het . 2 +ncRNA_intronic LINC02055 chr8 137689302 137689302 T C het . 1 +ncRNA_intronic LINC02055 chr8 137814552 137814552 T C het . 1 +ncRNA_intronic LINC02055 chr8 137857742 137857742 - A het . 3 +ncRNA_intronic LINC02055 chr8 137857762 137857762 C T het . 3 +intergenic LINC02055(dist=116591),LOC101927915(dist=391909) chr8 138026435 138026435 G A het . 3 +intergenic LINC02055(dist=116633),LOC101927915(dist=391867) chr8 138026477 138026477 - G het . 4 +intergenic LINC02055(dist=216724),LOC101927915(dist=291776) chr8 138126568 138126568 C T het . 2 +intergenic LINC02055(dist=476776),LOC101927915(dist=31724) chr8 138386620 138386620 C T het . 2 +intergenic LOC101927915(dist=331061),LOC401478(dist=64795) chr8 138756892 138756892 G T het . 2 +intergenic LOC101927915(dist=331063),LOC401478(dist=64793) chr8 138756894 138756894 G T het . 2 +intergenic LOC101927915(dist=337761),LOC401478(dist=58095) chr8 138763592 138763592 T C het . 2 +intergenic LOC101927915(dist=378566),LOC401478(dist=17290) chr8 138804397 138804397 A G het . 3 +intergenic LOC101927915(dist=383299),LOC401478(dist=12555) chr8 138809130 138809132 AAG - het . 2 +intronic LOC401478 chr8 138939206 138939206 C T het . 1 +intergenic LOC401478(dist=14957),FAM135B(dist=31521) chr8 139110745 139110745 G A het . 1 +intronic FAM135B chr8 139160613 139160613 A G het . 5 +intronic FAM135B chr8 139165464 139165464 A - het . 7 +intronic FAM135B chr8 139450014 139450014 A G het . 2 +intronic FAM135B chr8 139468199 139468199 T C het . 2 +exonic COL22A1 chr8 139601612 139601612 G T het . 6 +intronic COL22A1 chr8 139620267 139620267 G A het . 5 +intronic COL22A1 chr8 139631866 139631866 G C het . 8 +intronic COL22A1 chr8 139638240 139638240 C A het . 6 +intronic COL22A1 chr8 139668024 139668024 T C het . 4 +intronic COL22A1 chr8 139668032 139668032 T C het . 4 +intronic COL22A1 chr8 139688697 139688697 A G het . 5 +intronic COL22A1 chr8 139696503 139696503 A - het . 2 +intronic COL22A1 chr8 139705849 139705849 C T het . 11 +intronic COL22A1 chr8 139733226 139733226 C A het . 3 +intronic COL22A1 chr8 139733234 139733234 G T het . 2 +intronic COL22A1 chr8 139914556 139914556 C T het . 1 +intergenic COL22A1(dist=8071),KCNK9(dist=695045) chr8 139934320 139934320 T G het . 2 +intergenic COL22A1(dist=621648),KCNK9(dist=81468) chr8 140547897 140547897 T C het . 1 +intergenic COL22A1(dist=646003),KCNK9(dist=57113) chr8 140572252 140572252 - T het . 3 +intronic TRAPPC9 chr8 141034189 141034189 A T het . 28 +exonic TRAPPC9 chr8 141381181 141381181 G A het . 35 +exonic TRAPPC9 chr8 141461266 141461266 A G het . 23 +intronic CHRAC1 chr8 141521952 141521952 A C het . 5 +intronic AGO2 chr8 141563510 141563510 G T het . 1 +intronic AGO2 chr8 141572497 141572498 GG AA het . 5 +intronic PTK2 chr8 141710878 141710878 G C het . 7 +intronic PTK2 chr8 141755185 141755187 AAC - het . 2 +intronic PTK2 chr8 141828763 141828763 C T het . 3 +intergenic PTK2(dist=52948),DENND3(dist=73585) chr8 142065126 142065126 G C het . 2 +intergenic PTK2(dist=120787),DENND3(dist=5746) chr8 142132965 142132965 A G het . 1 +intergenic LOC105375787(dist=34518),LINC01300(dist=49214) chr8 142301434 142301434 G A het . 1 +exonic MROH5 chr8 142477587 142477587 C T het . 6 +splicing MROH5(NM_207414:exon4:c.409-1A>G) chr8 142505038 142505038 T C het . 7 +intronic MROH5 chr8 142505056 142505057 TG CT het . 6 +downstream MIR1302-7(dist=400) chr8 142867203 142867203 - GCC het . 2 +intergenic MIR1302-7(dist=173622),MIR4539(dist=38341) chr8 143041296 143041296 A T het . 1 +intergenic MIR4539(dist=16596),MIR4472-1(dist=161447) chr8 143096253 143096253 G C het . 2 +intronic TSNARE1 chr8 143365914 143365914 T - het . 3 +intronic ADGRB1 chr8 143607853 143607853 A C het . 3 +splicing JRK(NM_001279352:exon2:r.spl,NM_001279352:exon3:r.spl,NM_003724:exon2:r.spl,NM_003724:exon3:r.spl,NM_001077527:exon2:r.spl,NM_001077527:exon3:r.spl) chr8 143746088 143746089 CA - het . 21 +intronic LYNX1,LYNX1-SLURP2 chr8 143857319 143857319 C G het . 13 +exonic LYNX1,LYNX1-SLURP2 chr8 143857352 143857352 G A het . 20 +UTR5 LYNX1(NM_177477:c.-67_-66insCC,NM_177457:c.-67_-66insCC,NM_001356370:c.-67_-66insCC,NM_177476:c.-67_-66insCC),LYNX1-SLURP2(NM_023946:c.-67_-66insCC) chr8 143857441 143857441 - GG het . 6 +UTR5 LYNX1(NM_177477:c.-93C>T,NM_177457:c.-93C>T,NM_001356370:c.-93C>T,NM_177476:c.-93C>T),LYNX1-SLURP2(NM_023946:c.-93C>T) chr8 143857468 143857468 G A het . 3 +UTR3 CYP11B2(NM_000498:c.*81G>A) chr8 143993315 143993315 C T het . 7 +exonic CYP11B2 chr8 143994094 143994094 A - het . 25 +intergenic CYP11B2(dist=6856),LY6E-DT(dist=57333) chr8 144006115 144006115 C T het . 2 +intergenic CYP11B2(dist=60454),LY6E-DT(dist=3735) chr8 144059713 144059713 T C het . 2 +ncRNA_intronic LY6E-DT chr8 144099524 144099524 A C het . 10 +intergenic LY6E(dist=12338),C8orf31(dist=4461) chr8 144116165 144116165 G A het . 3 +intergenic LY6E(dist=12348),C8orf31(dist=4451) chr8 144116175 144116175 - A het . 3 +intergenic LY6E(dist=12362),C8orf31(dist=4437) chr8 144116189 144116189 T A het . 1 +intergenic LY6E(dist=12367),C8orf31(dist=4432) chr8 144116194 144116194 C A het . 1 +intergenic C8orf31(dist=2954),LY6H(dist=100657) chr8 144138674 144138674 T - het . 11 +intergenic C8orf31(dist=2987),LY6H(dist=100624) chr8 144138707 144138707 C T het . 11 +intergenic C8orf31(dist=4432),LY6H(dist=99179) chr8 144140152 144140152 C A het . 10 +intergenic C8orf31(dist=4440),LY6H(dist=99171) chr8 144140160 144140160 T C het . 11 +intergenic C8orf31(dist=4455),LY6H(dist=99156) chr8 144140175 144140175 T C het . 11 +exonic LY6H chr8 144239852 144239852 C A het . 27 +intergenic LY6H(dist=3461),GPIHBP1(dist=49554) chr8 144245514 144245514 T C het . 1 +intergenic LY6H(dist=16131),GPIHBP1(dist=36881) chr8 144258184 144258187 TGTT - het . 2 +exonic GPIHBP1 chr8 144295154 144295154 C T het . 24 +exonic GPIHBP1 chr8 144295172 144295172 C T het . 19 +intergenic GPIHBP1(dist=27274),ZFP41(dist=2791) chr8 144326318 144326318 - TTTG het . 3 +intronic GLI4 chr8 144351029 144351029 - TGT het . 9 +intronic TOP1MT chr8 144397172 144397172 C T het . 4 +intronic TOP1MT chr8 144397179 144397179 G A het . 4 +intronic RHPN1 chr8 144460569 144460569 G A het . 9 +ncRNA_intronic MAFA-AS1 chr8 144501072 144501072 C A het . 2 +ncRNA_intronic MAFA-AS1 chr8 144501079 144501079 C A het . 2 +exonic ZC3H3 chr8 144522387 144522388 GA TT het . 12 +intronic ZC3H3 chr8 144537224 144537224 A G het . 2 +intronic ZC3H3 chr8 144618379 144618379 A G het . 3 +intronic GSDMD chr8 144642175 144642175 A C het . 12 +intronic GSDMD chr8 144642178 144642178 T C het . 12 +intronic GSDMD chr8 144644583 144644583 G C het . 9 +exonic MROH6 chr8 144650745 144650745 C A het . 9 +intronic MROH6 chr8 144654573 144654573 C G het . 1 +intronic MROH6 chr8 144654582 144654582 C A het . 2 +intronic MROH6 chr8 144654586 144654586 G C het . 2 +intronic NAPRT chr8 144659608 144659608 A G het . 3 +exonic EEF1D chr8 144662353 144662353 G A het . 4 +intronic EEF1D chr8 144668369 144668369 C T het . 9 +exonic EEF1D chr8 144671685 144671685 G C het . 1 +exonic ZNF707 chr8 144775871 144775871 C A het . 3 +UTR3 FAM83H(NM_198488:c.*88C>G) chr8 144808003 144808003 G C het . 12 +intronic SCRIB chr8 144887772 144887772 G A het . 1 +exonic SCRIB chr8 144889172 144889172 A G het . 9 +exonic SCRIB chr8 144890873 144890873 A T het . 3 +upstream;downstream SCRIB(dist=2);PUF60(dist=963) chr8 144897551 144897551 T G het . 6 +exonic EPPK1 chr8 144940706 144940706 C T het . 30 +exonic EPPK1 chr8 144943243 144943243 C T het . 28 +exonic EPPK1 chr8 144946484 144946484 C A het . 12 +exonic PLEC chr8 144990528 144990528 A G het . 27 +exonic PLEC chr8 144998514 144998514 C T het . 28 +intronic PLEC chr8 145000898 145000898 A G het . 7 +intronic PLEC chr8 145003224 145003224 A C het . 3 +intronic PLEC chr8 145008342 145008342 C A het . 11 +exonic PLEC chr8 145011204 145011204 A G het . 15 +exonic EXOSC4 chr8 145135356 145135356 C T het . 18 +intronic CYC1 chr8 145151173 145151173 C A het . 16 +UTR5 WDR97(NM_001316309:c.-56G>C) chr8 145162598 145162598 G C het . 3 +exonic WDR97 chr8 145163414 145163414 C G het . 11 +exonic WDR97 chr8 145163647 145163647 T C het . 16 +intronic MROH1 chr8 145228330 145228331 TA - het . 2 +intronic MROH1 chr8 145228334 145228334 T A het . 2 +intronic MROH1 chr8 145247168 145247168 G A het . 1 +intronic MROH1 chr8 145279902 145279902 A C het . 2 +exonic SLC52A2 chr8 145584337 145584337 G A het . 2 +exonic CPSF1 chr8 145625881 145625881 C A het . 10 +intronic CPSF1 chr8 145625953 145625953 C T het . 3 +intronic TONSL chr8 145656452 145656452 G C het . 6 +intronic KIFC2 chr8 145692296 145692296 A C het . 8 +splicing RECQL4(NM_004260:exon14:c.2296+1C>-,NM_004260:exon15:c.2297-1C>-) chr8 145738768 145738768 G - het . 22 +intronic RECQL4 chr8 145738886 145738886 G A het . 7 +exonic RECQL4 chr8 145740622 145740622 C T het . 8 +exonic LRRC24 chr8 145747920 145747920 T G het . 8 +exonic LRRC24 chr8 145750269 145750269 G T het . 9 +intergenic ARHGAP39(dist=20113),ZNF251(dist=14984) chr8 145931310 145931310 C A het . 20 +exonic ZNF34 chr8 145999168 145999168 T G het . 26 +intronic RPL8 chr8 146017131 146017131 A C het . 1 +intronic ZNF7 chr8 146055011 146055011 C T het . 2 +intronic ZNF7 chr8 146058755 146058755 G T het . 1 +exonic ZNF7 chr8 146067458 146067458 C T het . 12 +exonic COMMD5 chr8 146076116 146076116 C A het . 9 +intergenic ZNF16(dist=11136),ZNF252P(dist=11565) chr8 146187410 146187410 T - het . 3 +intergenic ZNF252P-AS1(dist=37737),C8orf33(dist=8655) chr8 146269169 146269169 A G het . 1 +exonic C9orf66 chr9 215057 215057 T C het . 7 +exonic C9orf66 chr9 215060 215060 G T het . 6 +intronic DOCK8 chr9 304943 304943 G - het . 2 +intronic DOCK8 chr9 304945 304945 G C het . 2 +intronic DOCK8 chr9 334047 334047 - CTTCTGG het . 4 +intronic DOCK8 chr9 379965 379965 T C het . 4 +intronic DOCK8 chr9 432141 432143 TTT - het . 14 +intronic DOCK8 chr9 451906 451906 C T het . 2 +intronic DOCK8 chr9 451943 451943 - TG het . 2 +exonic KANK1 chr9 712137 712137 G C het . 15 +exonic KANK1 chr9 712156 712156 T G het . 19 +exonic KANK1 chr9 713177 713177 T C het . 4 +intronic KANK1 chr9 734679 734679 G T het . 12 +exonic KANK1 chr9 742342 742342 A G het . 4 +intergenic DMRT2(dist=301566),SMARCA2(dist=656099) chr9 1359120 1359120 C T het . 2 +intronic SMARCA2 chr9 2039983 2039983 A C het . 2 +intronic SMARCA2 chr9 2088641 2088641 T - het . 7 +intergenic SMARCA2(dist=59183),VLDLR-AS1(dist=282849) chr9 2252806 2252806 C A het . 2 +intergenic SMARCA2(dist=103972),VLDLR-AS1(dist=238060) chr9 2297595 2297595 A G het . 2 +intergenic SMARCA2(dist=287832),VLDLR-AS1(dist=54200) chr9 2481455 2481455 T C het . 1 +intergenic SMARCA2(dist=287841),VLDLR-AS1(dist=54191) chr9 2481464 2481464 A T het . 1 +intergenic SMARCA2(dist=287844),VLDLR-AS1(dist=54188) chr9 2481467 2481467 G C het . 1 +intergenic SMARCA2(dist=313415),VLDLR-AS1(dist=28617) chr9 2507038 2507038 G A het . 1 +intergenic KCNV2(dist=53563),PUM3(dist=20555) chr9 2783600 2783600 - AAAC het . 2 +intergenic PUM3(dist=198387),LINC01231(dist=139072) chr9 3042517 3042517 A G het . 3 +UTR3 RFX3(NM_002919:c.*186G>A) chr9 3247690 3247690 C T het . 3 +intronic RFX3 chr9 3273865 3273865 A - het . 2 +intergenic RFX3-AS1(dist=108874),GLIS3(dist=23498) chr9 3800630 3800630 G A het . 2 +intergenic RFX3-AS1(dist=108891),GLIS3(dist=23481) chr9 3800647 3800647 C T het . 2 +intronic GLIS3 chr9 4094896 4094896 - A het . 2 +intronic GLIS3 chr9 4094918 4094918 T C het . 2 +intronic GLIS3 chr9 4125633 4125633 - GTGTGT het . 2 +intergenic GLIS3(dist=29914),SLC1A1(dist=160478) chr9 4329949 4329949 G A het . 2 +exonic SLC1A1 chr9 4544640 4544640 T C het . 28 +intronic SLC1A1 chr9 4544907 4544907 A C het . 1 +intronic CDC37L1 chr9 4701842 4701842 T - het . 7 +intergenic AK3(dist=1583),RCL1(dist=49208) chr9 4743626 4743626 G A het . 1 +intronic RCL1 chr9 4850421 4850421 C G het . 1 +UTR3 RCL1(NM_001286700:c.*25A>G,NM_005772:c.*25A>G,NM_001286699:c.*25A>G,NM_001286701:c.*25A>G) chr9 4860300 4860300 A G het . 6 +intronic JAK2 chr9 5085003 5085003 G T het . 11 +intronic RLN2 chr9 5300456 5300456 A - het . 8 +intergenic RLN2(dist=7218),RLN1(dist=23103) chr9 5311829 5311829 T - het . 5 +intronic PLGRKT chr9 5432077 5432077 A - het . 5 +intronic RIC1 chr9 5742798 5742798 - A het . 5 +intronic RIC1 chr9 5742814 5742814 C A het . 6 +intronic RIC1 chr9 5754736 5754736 A G het . 8 +intronic ERMP1 chr9 5811338 5811338 A - het . 7 +intronic KIAA2026 chr9 5969517 5969517 C T het . 3 +intronic KIAA2026 chr9 5988333 5988333 C T het . 8 +intergenic RANBP6(dist=118762),IL33(dist=80747) chr9 6134402 6134402 C T het . 2 +intronic IL33 chr9 6253710 6253710 G C het . 6 +intronic IL33 chr9 6254568 6254568 T A het . 9 +intergenic IL33(dist=18628),TPD52L3(dist=51738) chr9 6276611 6276611 - A het . 2 +intergenic GLDC(dist=11998),KDM4C(dist=63173) chr9 6657690 6657690 C A het . 2 +intergenic GLDC(dist=12000),KDM4C(dist=63171) chr9 6657692 6657692 A G het . 2 +intronic KDM4C chr9 6723462 6723462 T C het . 2 +intronic KDM4C chr9 6725614 6725614 A C het . 2 +intronic KDM4C chr9 6736138 6736138 G C het . 2 +intronic KDM4C chr9 6770744 6770744 A T het . 2 +intronic KDM4C chr9 6990364 6990364 G T het . 11 +intronic PTPRD chr9 8524797 8524797 T C het . 11 +intronic PTPRD chr9 8691114 8691114 G A het . 2 +intronic PTPRD chr9 8733518 8733518 C T het . 3 +intronic PTPRD chr9 8831619 8831619 C T het . 2 +intronic PTPRD chr9 8923010 8923010 C T het . 2 +intronic PTPRD chr9 8923042 8923042 T - het . 3 +intronic PTPRD chr9 8964179 8964179 A G het . 1 +intronic PTPRD chr9 9007885 9007885 - T het . 1 +intronic PTPRD chr9 9007899 9007899 T C het . 1 +intronic PTPRD chr9 9826296 9826296 A C het . 1 +intronic PTPRD chr9 10505874 10505874 T - het . 2 +intergenic PTPRD-AS2(dist=47908),TYRP1(dist=2025058) chr9 10668328 10668328 A G het . 1 +intergenic PTPRD-AS2(dist=392272),TYRP1(dist=1680693) chr9 11012692 11012693 GG TA het . 3 +intergenic PTPRD-AS2(dist=392307),TYRP1(dist=1680659) chr9 11012727 11012727 T G het . 7 +intergenic PTPRD-AS2(dist=392316),TYRP1(dist=1680650) chr9 11012736 11012736 G A het . 6 +intergenic PTPRD-AS2(dist=392320),TYRP1(dist=1680645) chr9 11012740 11012741 GA AC het . 7 +intergenic PTPRD-AS2(dist=659557),TYRP1(dist=1413409) chr9 11279977 11279977 T C het . 2 +intergenic PTPRD-AS2(dist=659567),TYRP1(dist=1413399) chr9 11279987 11279987 A G het . 2 +intergenic PTPRD-AS2(dist=659586),TYRP1(dist=1413380) chr9 11280006 11280006 G T het . 1 +intergenic PTPRD-AS2(dist=980699),TYRP1(dist=1092267) chr9 11601119 11601119 G A het . 1 +intergenic PTPRD-AS2(dist=1159879),TYRP1(dist=913087) chr9 11780299 11780299 A G het . 2 +intergenic PTPRD-AS2(dist=1539904),TYRP1(dist=533062) chr9 12160324 12160324 C T het . 2 +intergenic PTPRD-AS2(dist=1759438),TYRP1(dist=313528) chr9 12379858 12379858 A T het . 2 +intergenic SNORD137(dist=27287),MPDZ(dist=105784) chr9 12999919 12999919 C G het . 2 +exonic MPDZ chr9 13112116 13112116 A G het . 3 +intronic MPDZ chr9 13256178 13256178 G C het . 2 +intergenic LINC00583(dist=41655),NFIB(dist=94581) chr9 13987261 13987261 C G het . 2 +intronic NFIB chr9 14164250 14164250 T C het . 1 +intronic NFIB chr9 14195998 14195998 G A het . 2 +exonic ZDHHC21 chr9 14658869 14658869 C A het . 16 +intronic ZDHHC21 chr9 14674574 14674574 G A het . 1 +ncRNA_intronic LOC389705 chr9 15000551 15000551 T C het . 3 +intronic TTC39B chr9 15183462 15183462 - A het . 5 +intronic PSIP1 chr9 15472612 15472612 A - het . 4 +intronic PSIP1 chr9 15473925 15473925 C A het . 5 +intronic PSIP1 chr9 15479893 15479893 A T het . 2 +intronic CCDC171 chr9 15623462 15623462 T C het . 8 +intronic CCDC171 chr9 15623475 15623475 A G het . 7 +intronic CCDC171 chr9 15623477 15623477 A G het . 5 +intronic CCDC171 chr9 15712636 15712636 G A het . 1 +intronic BNC2 chr9 16787786 16787786 T C het . 1 +intergenic BNC2(dist=73220),CNTLN(dist=190983) chr9 16944006 16944006 - T het . 2 +intronic CNTLN chr9 17335050 17335050 A C het . 1 +intronic CNTLN chr9 17388133 17388133 C A het . 4 +intronic CNTLN chr9 17408156 17408156 A G het . 1 +intronic CNTLN chr9 17464402 17464402 G C het . 3 +intronic CNTLN chr9 17494866 17494866 A G het . 3 +intergenic SH3GL2(dist=185940),ADAMTSL1(dist=491013) chr9 17983066 17983066 C T het . 1 +intergenic SH3GL2(dist=185944),ADAMTSL1(dist=491009) chr9 17983070 17983070 C T het . 1 +exonic ADAMTSL1 chr9 18829952 18829952 A G het . 10 +intronic ADAMTSL1 chr9 18889544 18889544 A T het . 1 +intronic SAXO1 chr9 19005944 19005944 A C het . 2 +intronic PLIN2 chr9 19123745 19123745 A G het . 1 +intronic DENND4C chr9 19356847 19356847 C T het . 4 +exonic DENND4C chr9 19360299 19360299 C A het . 14 +intronic RPS6 chr9 19379324 19379324 C A het . 11 +intronic RPS6 chr9 19380061 19380061 T G het . 2 +intronic ACER2 chr9 19423712 19423712 G A het . 6 +intronic SLC24A2 chr9 19579096 19579096 C A het . 2 +intronic SLC24A2 chr9 19639121 19639124 AACA - het . 2 +intronic SLC24A2 chr9 19780273 19780273 - T het . 2 +intergenic SLC24A2(dist=102757),MLLT3(dist=451889) chr9 19889774 19889774 C T het . 1 +intergenic SLC24A2(dist=359305),MLLT3(dist=195341) chr9 20146322 20146322 C T het . 2 +intergenic SLC24A2(dist=437211),MLLT3(dist=117435) chr9 20224228 20224228 G A het . 2 +intergenic SLC24A2(dist=537107),MLLT3(dist=17539) chr9 20324124 20324124 A G het . 2 +intronic MLLT3 chr9 20471312 20471312 A G het . 2 +intronic FOCAD chr9 20975121 20975121 A G het . 2 +intronic FOCAD chr9 20982503 20982503 T G het . 6 +intronic HACD4 chr9 21031471 21031471 C A het . 3 +intronic HACD4 chr9 21031479 21031479 C T het . 4 +intergenic HACD4(dist=1581),IFNB1(dist=43849) chr9 21033255 21033255 C T het . 1 +intergenic HACD4(dist=1597),IFNB1(dist=43833) chr9 21033271 21033271 G A het . 2 +intergenic IFNB1(dist=14135),IFNW1(dist=48534) chr9 21092097 21092097 - TT het . 5 +intergenic IFNW1(dist=13721),IFNA21(dist=10015) chr9 21155621 21155621 - T het . 3 +exonic IFNA2 chr9 21385025 21385025 T G het . 30 +intergenic MIR31HG(dist=29172),MTAP(dist=213666) chr9 21588969 21588969 G A het . 2 +intergenic MIR31HG(dist=131838),MTAP(dist=111000) chr9 21691635 21691635 G A het . 2 +intronic MTAP chr9 21815589 21815589 - A het . 10 +intergenic MTAP(dist=63697),CDKN2A-DT(dist=37472) chr9 21929666 21929666 G A het . 2 +intergenic LINC01239(dist=539672),LOC101929563(dist=136805) chr9 23363884 23363884 G C het . 2 +intergenic LINC01239(dist=540898),LOC101929563(dist=135579) chr9 23365110 23365110 A T het . 2 +ncRNA_intronic LOC101929563 chr9 23545522 23545523 AA - het . 2 +ncRNA_intronic LOC101929563 chr9 23545534 23545544 AAAAAAAAAAA - het . 2 +intergenic ELAVL2(dist=104588),IZUMO3(dist=587985) chr9 23955226 23955228 GAG - het . 2 +intergenic ELAVL2(dist=450584),IZUMO3(dist=241989) chr9 24301222 24301224 TGC - het . 9 +intergenic IZUMO3(dist=114021),TUSC1(dist=1016471) chr9 24659916 24659916 C T het . 4 +exonic TUSC1 chr9 25677698 25677698 A C het . 4 +intergenic TUSC1(dist=60142),LINC01241(dist=41056) chr9 25738998 25738998 C T het . 2 +intronic PLAA chr9 26920466 26920466 A C het . 3 +intronic IFT74 chr9 26982271 26982271 T - het . 10 +intronic TEK chr9 27202726 27202727 AT TC het . 2 +intronic MOB3B chr9 27495362 27495362 - AATT het . 2 +intronic LINGO2 chr9 28237928 28237928 G A het . 1 +intronic LINGO2 chr9 28237935 28237935 G A het . 1 +intronic LINGO2 chr9 28956058 28956058 T A het . 2 +intronic LINGO2 chr9 28997853 28997853 T A het . 1 +intronic LINGO2 chr9 29037814 29037814 C T het . 2 +intergenic LINGO2(dist=473269),LINC01242(dist=701698) chr9 29687234 29687235 AG - het . 2 +intergenic LINGO2(dist=531899),LINC01242(dist=643069) chr9 29745864 29745864 G A het . 2 +intergenic LINGO2(dist=703547),LINC01242(dist=471421) chr9 29917512 29917512 G T het . 2 +intergenic LINGO2(dist=1152485),LINC01242(dist=22483) chr9 30366450 30366450 C A het . 2 +intergenic LINC01242(dist=102304),LINC01243(dist=860853) chr9 30510756 30510756 T C het . 2 +intergenic LINC01242(dist=266462),LINC01243(dist=696695) chr9 30674914 30674914 T C het . 2 +intergenic LINC01242(dist=280634),LINC01243(dist=682521) chr9 30689086 30689088 AAA - het . 4 +intergenic LINC01243(dist=620059),ACO1(dist=383054) chr9 32001547 32001547 A T het . 2 +intronic ACO1 chr9 32413481 32413483 AAA - het . 2 +intronic ACO1 chr9 32413502 32413502 C G het . 2 +intronic DDX58 chr9 32497753 32497756 AATG - het . 2 +intronic NDUFB6 chr9 32559114 32559114 C T het . 3 +exonic TAF1L chr9 32635282 32635282 C T het . 11 +intergenic TMEM215(dist=81831),APTX(dist=101574) chr9 32871030 32871030 T - het . 2 +intergenic TMEM215(dist=81832),APTX(dist=101573) chr9 32871031 32871031 T A het . 2 +intergenic TMEM215(dist=110438),APTX(dist=72967) chr9 32899637 32899637 G C het . 2 +intronic APTX chr9 32973710 32973712 AAA - het . 7 +exonic APTX chr9 32986027 32986027 T A het . 8 +intronic APTX chr9 32986040 32986041 AC CA het . 7 +intronic APTX chr9 32986053 32986053 C A het . 9 +intronic CHMP5 chr9 33270748 33270748 G T het . 5 +intronic CHMP5 chr9 33280712 33280712 C A het . 9 +intronic NFX1 chr9 33354201 33354201 C A het . 9 +downstream SUGT1P1(dist=148) chr9 33504387 33504387 C T het . 8 +ncRNA_exonic SUGT1P1 chr9 33510912 33510912 A G het . 3 +intergenic ANKRD18B(dist=38238),ANXA2P2(dist=10545) chr9 33613678 33613678 C A het . 2 +intronic PRSS3 chr9 33796495 33796495 C A het . 11 +intronic PRSS3 chr9 33796505 33796505 G C het . 12 +intronic PRSS3 chr9 33796519 33796519 T C het . 7 +intronic PRSS3 chr9 33796529 33796529 G A het . 6 +exonic PRSS3 chr9 33796691 33796693 GAG - het . 18 +downstream PRSS3(dist=474) chr9 33799703 33799703 G A het . 2 +downstream PRSS3(dist=482) chr9 33799711 33799711 C T het . 2 +downstream PRSS3(dist=491) chr9 33799720 33799720 C T het . 2 +intronic UBAP2 chr9 33926692 33926692 G A het . 4 +intronic UBAP2 chr9 34017016 34017016 A - het . 6 +intergenic UBAP2(dist=34210),DCAF12(dist=3224) chr9 34083157 34083157 T C het . 2 +exonic DCAF12 chr9 34125266 34125266 C A het . 10 +exonic KIF24 chr9 34257496 34257496 G T het . 2 +intronic C9orf24 chr9 34390330 34390330 T G het . 2 +exonic FAM205A chr9 34726639 34726640 CA AC het . 6 +exonic FAM205A chr9 34726671 34726671 G A het . 4 +exonic FAM205A chr9 34729338 34729338 C A het . 6 +ncRNA_exonic FAM205BP chr9 34834134 34834134 A G het . 12 +exonic PHF24 chr9 34977540 34977540 C A het . 8 +exonic C9orf131 chr9 35043649 35043649 A C het . 7 +intronic VCP chr9 35061693 35061693 - ACAGTACACAA het . 8 +intronic VCP chr9 35066579 35066579 - A het . 4 +intronic PIGO chr9 35090782 35090782 A C het . 1 +UTR3 STOML2(NM_013442:c.*30A>G,NM_001287033:c.*30A>G,NM_001287032:c.*30A>G,NM_001287031:c.*30A>G) chr9 35100002 35100002 T C het . 2 +intergenic FAM214B(dist=32295),UNC13B(dist=13763) chr9 35148203 35148203 C G het . 18 +exonic FAM166B chr9 35562549 35562549 G A het . 1 +intronic TPM2 chr9 35682255 35682255 G C het . 5 +intronic TPM2 chr9 35682296 35682296 T A het . 2 +UTR5 TPM2(NM_213674:c.-16A>C,NM_001301226:c.-16A>C,NM_001301227:c.-16A>C,NM_003289:c.-16A>C) chr9 35689830 35689830 T G het . 13 +intronic TLN1 chr9 35712823 35712823 G A het . 5 +intronic RGP1 chr9 35749490 35749490 T G het . 5 +intronic TMEM8B chr9 35837275 35837275 T C het . 1 +intronic TMEM8B chr9 35837284 35837284 G T het . 2 +intronic RECK chr9 36058803 36058803 T - het . 11 +intronic GNE chr9 36276543 36276543 T A het . 1 +intergenic GNE(dist=44624),RNF38(dist=14722) chr9 36321677 36321677 A G het . 1 +intronic RNF38 chr9 36339984 36339984 T - het . 3 +intergenic RNF38(dist=131567),MELK(dist=40097) chr9 36532762 36532762 C T het . 2 +intergenic ZCCHC7(dist=57806),GRHPR(dist=6756) chr9 37415951 37415951 G C het . 2 +intergenic ZCCHC7(dist=57811),GRHPR(dist=6751) chr9 37415956 37415956 G C het . 2 +intergenic ZCCHC7(dist=57822),GRHPR(dist=6740) chr9 37415967 37415967 - A het . 3 +intronic POLR1E chr9 37490422 37490422 G A het . 5 +intronic POLR1E chr9 37490930 37490930 G T het . 4 +intergenic TOMM5(dist=3754),FRMPD1(dist=54662) chr9 37596390 37596390 T A het . 3 +intergenic FAM74A1(dist=418671),LOC105379450(dist=358929) chr9 40324890 40324890 G A het . 2 +intergenic LOC103908605(dist=418540),FAM27C(dist=168436) chr9 44821800 44821800 T C het . 8 +intergenic LOC103908605(dist=418559),FAM27C(dist=168417) chr9 44821819 44821819 G C het . 8 +intergenic LOC103908605(dist=465615),FAM27C(dist=121361) chr9 44868875 44868875 G T het . 3 +intergenic SPATA31A5(dist=945874),LINC01410(dist=1805) chr9 66455484 66455484 G C het . 4 +ncRNA_intronic LINC01410 chr9 66457475 66457475 C T het . 2 +ncRNA_intronic LINC01410 chr9 66467697 66467697 T C het . 2 +downstream LINC01410(dist=321) chr9 66469631 66469631 A G het . 5 +intergenic PTGER4P2-CDK2AP2P2(dist=5313),LOC403323(dist=5337) chr9 66508343 66508343 - T het . 2 +ncRNA_intronic LOC403323 chr9 66514338 66514338 G A het . 3 +ncRNA_intronic LOC403323 chr9 66517537 66517537 A G het . 12 +intergenic LOC728673(dist=153081),LOC101928381(dist=214285) chr9 66708682 66708682 G C het . 8 +intergenic LOC728673(dist=153090),LOC101928381(dist=214276) chr9 66708691 66708691 A T het . 7 +intergenic LOC728673(dist=153096),LOC101928381(dist=214270) chr9 66708697 66708697 G A het . 7 +intergenic LOC728673(dist=155829),LOC101928381(dist=211537) chr9 66711430 66711430 A G het . 2 +intergenic LOC728673(dist=242209),LOC101928381(dist=125157) chr9 66797810 66797810 T C het . 2 +intergenic LOC728673(dist=242267),LOC101928381(dist=125098) chr9 66797868 66797869 AT GC het . 3 +intergenic LOC728673(dist=242831),LOC101928381(dist=124535) chr9 66798432 66798432 C T het . 1 +intergenic LOC728673(dist=242840),LOC101928381(dist=124526) chr9 66798441 66798441 A T het . 1 +intergenic LOC728673(dist=242847),LOC101928381(dist=124519) chr9 66798448 66798448 A C het . 2 +intergenic LOC728673(dist=242857),LOC101928381(dist=124509) chr9 66798458 66798458 C G het . 2 +intergenic LOC728673(dist=242983),LOC101928381(dist=124383) chr9 66798584 66798584 T C het . 2 +intergenic LOC728673(dist=243132),LOC101928381(dist=124234) chr9 66798733 66798733 C T het . 3 +intergenic LOC728673(dist=243137),LOC101928381(dist=124229) chr9 66798738 66798738 G A het . 3 +intergenic LOC728673(dist=243611),LOC101928381(dist=123755) chr9 66799212 66799212 G C het . 2 +intergenic LOC728673(dist=243616),LOC101928381(dist=123750) chr9 66799217 66799217 G A het . 2 +intergenic LOC728673(dist=265314),LOC101928381(dist=102052) chr9 66820915 66820915 T C het . 1 +intergenic LOC728673(dist=280048),LOC101928381(dist=87318) chr9 66835649 66835649 T G het . 1 +ncRNA_intronic BMS1P14 chr9 67335129 67335129 T C het . 2 +intergenic BMS1P14(dist=365831),LOC102723709(dist=73127) chr9 67705996 67705996 T A het . 2 +intergenic BMS1P14(dist=365856),LOC102723709(dist=73098) chr9 67706021 67706025 ATTTT - het . 2 +intergenic FAM27B(dist=96466),ANKRD20A1(dist=36106) chr9 67890655 67890655 A G het . 2 +intergenic ANKRD20A3(dist=384479),LINC00537(dist=53903) chr9 68354772 68354772 A G het . 2 +intergenic ANKRD20A3(dist=386941),LINC00537(dist=51441) chr9 68357234 68357234 T C het . 3 +intergenic ANKRD20A3(dist=386970),LINC00537(dist=51412) chr9 68357263 68357263 G C het . 6 +intergenic ANKRD20A3(dist=388151),LINC00537(dist=50231) chr9 68358444 68358444 G T het . 8 +intergenic ANKRD20A3(dist=390231),LINC00537(dist=48151) chr9 68360524 68360524 C A het . 2 +intergenic ANKRD20A3(dist=400485),LINC00537(dist=37897) chr9 68370778 68370778 A G het . 2 +intergenic ANKRD20A3(dist=400491),LINC00537(dist=37891) chr9 68370784 68370784 T G het . 2 +intergenic ANKRD20A3(dist=400512),LINC00537(dist=37870) chr9 68370805 68370805 A G het . 3 +intergenic ANKRD20A3(dist=400517),LINC00537(dist=37865) chr9 68370810 68370810 C T het . 3 +intergenic ANKRD20A3(dist=400536),LINC00537(dist=37846) chr9 68370829 68370829 T G het . 3 +intergenic ANKRD20A3(dist=400552),LINC00537(dist=37830) chr9 68370845 68370845 C A het . 3 +intergenic ANKRD20A3(dist=400556),LINC00537(dist=37826) chr9 68370849 68370849 G A het . 3 +intergenic ANKRD20A3(dist=412355),LINC00537(dist=26027) chr9 68382648 68382648 G A het . 2 +intergenic ANKRD20A3(dist=420477),LINC00537(dist=17905) chr9 68390770 68390770 A T het . 2 +intergenic ANKRD20A3(dist=420499),LINC00537(dist=17883) chr9 68390792 68390792 C - het . 6 +intergenic ANKRD20A3(dist=420506),LINC00537(dist=17876) chr9 68390799 68390799 G - het . 6 +intergenic ANKRD20A3(dist=420532),LINC00537(dist=17850) chr9 68390825 68390825 T G het . 4 +intergenic ANKRD20A3(dist=420535),LINC00537(dist=17847) chr9 68390828 68390828 T C het . 4 +intergenic ANKRD20A3(dist=423219),LINC00537(dist=15163) chr9 68393512 68393512 A T het . 4 +intergenic ANKRD20A3(dist=423255),LINC00537(dist=15127) chr9 68393548 68393548 A - het . 3 +intergenic ANKRD20A3(dist=431477),LINC00537(dist=6905) chr9 68401770 68401770 A G het . 3 +intergenic ANKRD20A3(dist=431499),LINC00537(dist=6883) chr9 68401792 68401792 C T het . 2 +intergenic ANKRD20A3(dist=432354),LINC00537(dist=6028) chr9 68402647 68402647 G T het . 2 +intergenic ANKRD20A3(dist=432920),LINC00537(dist=5462) chr9 68403213 68403213 G C het . 7 +intergenic ANKRD20A3(dist=432937),LINC00537(dist=5445) chr9 68403230 68403230 A G het . 7 +intergenic ANKRD20A3(dist=435920),LINC00537(dist=2462) chr9 68406213 68406213 G C het . 2 +ncRNA_exonic LINC00537 chr9 68412566 68412566 T C het . 2 +ncRNA_exonic LINC00537 chr9 68412707 68412708 AT CG het . 3 +ncRNA_exonic LINC00537 chr9 68412801 68412801 C T het . 2 +ncRNA_exonic LINC00537 chr9 68412864 68412864 G T het . 3 +ncRNA_exonic LINC00537 chr9 68412969 68412969 C G het . 2 +ncRNA_exonic LINC00537 chr9 68412987 68412987 T C het . 3 +ncRNA_exonic LINC00537 chr9 68413038 68413038 G C het . 3 +ncRNA_exonic LINC00537 chr9 68413066 68413066 T C het . 3 +ncRNA_exonic LINC00537 chr9 68413072 68413072 A G het . 2 +ncRNA_exonic LINC00537 chr9 68413706 68413706 C T het . 4 +ncRNA_exonic LINC00537 chr9 68413916 68413916 T C het . 3 +ncRNA_exonic LINC00537 chr9 68414033 68414033 T C het . 4 +ncRNA_exonic LINC00537 chr9 68414063 68414063 T C het . 9 +ncRNA_exonic LINC00537 chr9 68414094 68414094 A G het . 14 +ncRNA_exonic LINC00537 chr9 68414103 68414103 T G het . 12 +ncRNA_exonic LINC00537 chr9 68414172 68414172 G T het . 13 +ncRNA_exonic LINC00537 chr9 68414199 68414199 C T het . 12 +ncRNA_exonic LINC00537 chr9 68414231 68414231 A G het . 12 +ncRNA_exonic LINC00537 chr9 68414235 68414235 G A het . 13 +ncRNA_exonic LINC00537 chr9 68414259 68414259 C T het . 14 +ncRNA_exonic LINC00537 chr9 68414262 68414262 A T het . 14 +ncRNA_exonic LINC00537 chr9 68414269 68414269 T G het . 14 +ncRNA_exonic LINC00537 chr9 68414274 68414274 T A het . 14 +ncRNA_exonic LINC00537 chr9 68414289 68414289 C T het . 14 +ncRNA_exonic LINC00537 chr9 68414291 68414291 A C het . 15 +ncRNA_exonic LINC00537 chr9 68414314 68414314 C A het . 8 +ncRNA_exonic LINC00537 chr9 68414342 68414342 T C het . 8 +ncRNA_exonic LINC00537 chr9 68414372 68414372 A G het . 5 +ncRNA_exonic LINC00537 chr9 68414383 68414383 G A het . 3 +ncRNA_exonic LINC00537 chr9 68414698 68414698 C T het . 4 +ncRNA_exonic LINC00537 chr9 68414699 68414699 T C het . 4 +ncRNA_exonic MIR4477A,MIR4477B chr9 68415386 68415386 G A het . 10 +ncRNA_exonic MIR4477A,MIR4477B chr9 68415388 68415388 A T het . 10 +upstream;downstream MIR4477A(dist=162);LINC00537,MIR4477B(dist=162) chr9 68415550 68415550 G A het . 17 +upstream;downstream MIR4477A(dist=170);LINC00537,MIR4477B(dist=170) chr9 68415558 68415558 A T het . 20 +upstream;downstream MIR4477A(dist=175);LINC00537,MIR4477B(dist=175) chr9 68415563 68415563 G T het . 22 +upstream;downstream MIR4477A(dist=190);LINC00537,MIR4477B(dist=190) chr9 68415578 68415578 A G het . 24 +upstream;downstream MIR4477A(dist=210);LINC00537,MIR4477B(dist=210) chr9 68415598 68415598 C T het . 21 +upstream;downstream MIR4477A(dist=242);LINC00537,MIR4477B(dist=242) chr9 68415630 68415630 A C het . 19 +upstream;downstream MIR4477A(dist=339);LINC00537,MIR4477B(dist=339) chr9 68415727 68415727 G A het . 14 +upstream;downstream MIR4477A(dist=368);LINC00537,MIR4477B(dist=368) chr9 68415756 68415756 C A het . 21 +upstream;downstream MIR4477A(dist=370);LINC00537,MIR4477B(dist=370) chr9 68415758 68415758 A G het . 21 +upstream;downstream MIR4477A(dist=374);LINC00537,MIR4477B(dist=374) chr9 68415762 68415763 TT GA het . 20 +upstream;downstream MIR4477A(dist=420);MIR4477B(dist=420) chr9 68415808 68415808 T C het . 8 +upstream;downstream MIR4477A(dist=421);MIR4477B(dist=421) chr9 68415809 68415809 T G het . 8 +upstream;downstream MIR4477A(dist=464);MIR4477B(dist=464) chr9 68415852 68415852 T C het . 9 +upstream;downstream MIR4477A(dist=488);MIR4477B(dist=488) chr9 68415876 68415876 G A het . 7 +upstream;downstream MIR4477A(dist=557);MIR4477B(dist=557) chr9 68415945 68415945 T G het . 2 +intergenic MIR4477B(dist=1043),FRG1JP(dist=11353) chr9 68416431 68416431 A G het . 3 +intergenic MIR4477B(dist=1049),FRG1JP(dist=11347) chr9 68416437 68416437 T G het . 3 +intergenic MIR4477B(dist=1057),FRG1JP(dist=11339) chr9 68416445 68416445 A - het . 3 +intergenic MIR4477B(dist=1099),FRG1JP(dist=11297) chr9 68416487 68416487 C G het . 4 +intergenic MIR4477B(dist=1102),FRG1JP(dist=11294) chr9 68416490 68416490 G C het . 3 +intergenic MIR4477B(dist=1123),FRG1JP(dist=11273) chr9 68416511 68416511 G A het . 2 +intergenic MIR4477B(dist=1151),FRG1JP(dist=11245) chr9 68416539 68416539 A G het . 3 +intergenic MIR4477B(dist=1157),FRG1JP(dist=11239) chr9 68416545 68416545 A C het . 2 +intergenic MIR4477B(dist=1174),FRG1JP(dist=11222) chr9 68416562 68416562 A C het . 3 +intergenic MIR4477B(dist=1182),FRG1JP(dist=11214) chr9 68416570 68416570 C A het . 4 +intergenic MIR4477B(dist=1206),FRG1JP(dist=11190) chr9 68416594 68416594 - A het . 4 +intergenic MIR4477B(dist=1219),FRG1JP(dist=11177) chr9 68416607 68416607 T C het . 3 +intergenic MIR4477B(dist=1227),FRG1JP(dist=11169) chr9 68416615 68416615 G C het . 3 +intergenic MIR4477B(dist=1231),FRG1JP(dist=11165) chr9 68416619 68416619 C T het . 3 +intergenic MIR4477B(dist=1265),FRG1JP(dist=11131) chr9 68416653 68416653 G A het . 2 +intergenic MIR4477B(dist=1419),FRG1JP(dist=10977) chr9 68416807 68416807 A C het . 3 +intergenic MIR4477B(dist=1494),FRG1JP(dist=10902) chr9 68416882 68416882 - T het . 6 +intergenic MIR4477B(dist=1497),FRG1JP(dist=10899) chr9 68416885 68416885 T A het . 6 +intergenic MIR4477B(dist=1545),FRG1JP(dist=10851) chr9 68416933 68416933 A G het . 8 +intergenic MIR4477B(dist=1556),FRG1JP(dist=10840) chr9 68416944 68416944 T C het . 6 +intergenic MIR4477B(dist=1774),FRG1JP(dist=10622) chr9 68417162 68417162 - A het . 11 +intergenic MIR4477B(dist=1779),FRG1JP(dist=10617) chr9 68417167 68417167 T A het . 10 +intergenic MIR4477B(dist=1821),FRG1JP(dist=10575) chr9 68417209 68417209 G A het . 4 +intergenic MIR4477B(dist=1832),FRG1JP(dist=10564) chr9 68417220 68417220 A G het . 6 +intergenic MIR4477B(dist=1852),FRG1JP(dist=10544) chr9 68417240 68417240 C A het . 7 +intergenic MIR4477B(dist=1859),FRG1JP(dist=10537) chr9 68417247 68417247 C T het . 7 +intergenic MIR4477B(dist=1967),FRG1JP(dist=10429) chr9 68417355 68417355 G T het . 3 +intergenic MIR4477B(dist=1999),FRG1JP(dist=10397) chr9 68417387 68417387 A G het . 2 +intergenic MIR4477B(dist=2019),FRG1JP(dist=10377) chr9 68417407 68417407 A C het . 3 +intergenic MIR4477B(dist=2074),FRG1JP(dist=10322) chr9 68417462 68417462 G A het . 6 +intergenic MIR4477B(dist=2080),FRG1JP(dist=10316) chr9 68417468 68417468 A G het . 6 +intergenic MIR4477B(dist=2110),FRG1JP(dist=10286) chr9 68417498 68417498 T C het . 8 +intergenic MIR4477B(dist=2165),FRG1JP(dist=10231) chr9 68417553 68417553 A G het . 11 +intergenic MIR4477B(dist=2173),FRG1JP(dist=10223) chr9 68417561 68417561 G A het . 11 +intergenic MIR4477B(dist=2182),FRG1JP(dist=10214) chr9 68417570 68417570 T C het . 11 +intergenic MIR4477B(dist=2276),FRG1JP(dist=10120) chr9 68417664 68417664 T G het . 2 +intergenic MIR4477B(dist=2316),FRG1JP(dist=10080) chr9 68417704 68417704 G A het . 3 +intergenic MIR4477B(dist=2458),FRG1JP(dist=9938) chr9 68417846 68417846 - T het . 4 +intergenic MIR4477B(dist=2488),FRG1JP(dist=9907) chr9 68417876 68417877 AC - het . 7 +intergenic MIR4477B(dist=2490),FRG1JP(dist=9906) chr9 68417878 68417878 A G het . 7 +intergenic MIR4477B(dist=2501),FRG1JP(dist=9895) chr9 68417889 68417889 T A het . 6 +intergenic MIR4477B(dist=2532),FRG1JP(dist=9864) chr9 68417920 68417920 A G het . 7 +intergenic MIR4477B(dist=2602),FRG1JP(dist=9794) chr9 68417990 68417990 T C het . 6 +intergenic MIR4477B(dist=2684),FRG1JP(dist=9712) chr9 68418072 68418072 G A het . 5 +intergenic MIR4477B(dist=2712),FRG1JP(dist=9684) chr9 68418100 68418100 C G het . 6 +intergenic MIR4477B(dist=2909),FRG1JP(dist=9487) chr9 68418297 68418297 T A het . 2 +intergenic MIR4477B(dist=2911),FRG1JP(dist=9485) chr9 68418299 68418299 T C het . 2 +intergenic MIR4477B(dist=2919),FRG1JP(dist=9477) chr9 68418307 68418307 C T het . 2 +intergenic MIR4477B(dist=2930),FRG1JP(dist=9466) chr9 68418318 68418318 T C het . 2 +intergenic MIR4477B(dist=2941),FRG1JP(dist=9455) chr9 68418329 68418329 A G het . 3 +intergenic MIR4477B(dist=2944),FRG1JP(dist=9452) chr9 68418332 68418332 T A het . 3 +intergenic MIR4477B(dist=2964),FRG1JP(dist=9432) chr9 68418352 68418352 A G het . 5 +intergenic MIR4477B(dist=2967),FRG1JP(dist=9429) chr9 68418355 68418355 C T het . 5 +intergenic MIR4477B(dist=3383),FRG1JP(dist=9013) chr9 68418771 68418771 A G het . 4 +intergenic MIR4477B(dist=3956),FRG1JP(dist=8440) chr9 68419344 68419344 A T het . 2 +intergenic MIR4477B(dist=4232),FRG1JP(dist=8164) chr9 68419620 68419620 A G het . 5 +intergenic MIR4477B(dist=4245),FRG1JP(dist=8151) chr9 68419633 68419633 A C het . 5 +intergenic MIR4477B(dist=4290),FRG1JP(dist=8106) chr9 68419678 68419678 A G het . 6 +intergenic MIR4477B(dist=4529),FRG1JP(dist=7867) chr9 68419917 68419917 C T het . 4 +intergenic MIR4477B(dist=4545),FRG1JP(dist=7851) chr9 68419933 68419933 T G het . 4 +intergenic MIR4477B(dist=4559),FRG1JP(dist=7837) chr9 68419947 68419947 T C het . 2 +intergenic MIR4477B(dist=4561),FRG1JP(dist=7835) chr9 68419949 68419949 A T het . 2 +intergenic MIR4477B(dist=4796),FRG1JP(dist=7600) chr9 68420184 68420184 T G het . 2 +intergenic MIR4477B(dist=4806),FRG1JP(dist=7590) chr9 68420194 68420194 C A het . 2 +intergenic MIR4477B(dist=4944),FRG1JP(dist=7452) chr9 68420332 68420332 A C het . 4 +intergenic MIR4477B(dist=4971),FRG1JP(dist=7425) chr9 68420359 68420359 T C het . 4 +intergenic MIR4477B(dist=5067),FRG1JP(dist=7329) chr9 68420455 68420455 T C het . 6 +intergenic MIR4477B(dist=5084),FRG1JP(dist=7312) chr9 68420472 68420472 C T het . 7 +intergenic MIR4477B(dist=5086),FRG1JP(dist=7310) chr9 68420474 68420474 C T het . 8 +intergenic MIR4477B(dist=5113),FRG1JP(dist=7283) chr9 68420501 68420501 A C het . 9 +intergenic MIR4477B(dist=5116),FRG1JP(dist=7280) chr9 68420504 68420504 G T het . 9 +intergenic MIR4477B(dist=5118),FRG1JP(dist=7278) chr9 68420506 68420506 T A het . 9 +intergenic MIR4477B(dist=5134),FRG1JP(dist=7262) chr9 68420522 68420522 T A het . 9 +intergenic MIR4477B(dist=5150),FRG1JP(dist=7246) chr9 68420538 68420538 C T het . 7 +intergenic MIR4477B(dist=5308),FRG1JP(dist=7088) chr9 68420696 68420696 C T het . 5 +intergenic MIR4477B(dist=5309),FRG1JP(dist=7087) chr9 68420697 68420697 G A het . 5 +intergenic MIR4477B(dist=5323),FRG1JP(dist=7073) chr9 68420711 68420711 A G het . 6 +intergenic MIR4477B(dist=5327),FRG1JP(dist=7069) chr9 68420715 68420715 G - het . 6 +intergenic MIR4477B(dist=5375),FRG1JP(dist=7021) chr9 68420763 68420763 A C het . 5 +intergenic MIR4477B(dist=5395),FRG1JP(dist=7001) chr9 68420783 68420783 C A het . 2 +intergenic MIR4477B(dist=5491),FRG1JP(dist=6905) chr9 68420879 68420879 G A het . 5 +intergenic MIR4477B(dist=5683),FRG1JP(dist=6713) chr9 68421071 68421071 - TTTG het . 3 +intergenic MIR4477B(dist=5775),FRG1JP(dist=6621) chr9 68421163 68421163 A G het . 1 +intergenic MIR4477B(dist=5780),FRG1JP(dist=6616) chr9 68421168 68421168 G A het . 1 +intergenic MIR4477B(dist=5877),FRG1JP(dist=6519) chr9 68421265 68421265 T A het . 6 +intergenic MIR4477B(dist=6189),FRG1JP(dist=6207) chr9 68421577 68421577 T A het . 4 +intergenic MIR4477B(dist=6230),FRG1JP(dist=6166) chr9 68421618 68421618 - A het . 7 +intergenic MIR4477B(dist=6234),FRG1JP(dist=6162) chr9 68421622 68421622 G T het . 7 +intergenic MIR4477B(dist=6244),FRG1JP(dist=6152) chr9 68421632 68421632 C A het . 7 +intergenic MIR4477B(dist=6254),FRG1JP(dist=6142) chr9 68421642 68421642 C T het . 6 +intergenic MIR4477B(dist=6272),FRG1JP(dist=6124) chr9 68421660 68421660 G A het . 4 +intergenic MIR4477B(dist=6274),FRG1JP(dist=6122) chr9 68421662 68421662 A G het . 4 +intergenic MIR4477B(dist=6382),FRG1JP(dist=6014) chr9 68421770 68421770 C T het . 4 +intergenic MIR4477B(dist=6393),FRG1JP(dist=6003) chr9 68421781 68421781 C G het . 5 +intergenic MIR4477B(dist=6411),FRG1JP(dist=5985) chr9 68421799 68421799 C T het . 5 +intergenic MIR4477B(dist=6448),FRG1JP(dist=5948) chr9 68421836 68421836 C T het . 5 +intergenic MIR4477B(dist=6453),FRG1JP(dist=5943) chr9 68421841 68421841 T C het . 5 +intergenic MIR4477B(dist=6490),FRG1JP(dist=5906) chr9 68421878 68421878 A C het . 4 +intergenic MIR4477B(dist=6762),FRG1JP(dist=5634) chr9 68422150 68422150 T A het . 3 +intergenic MIR4477B(dist=6800),FRG1JP(dist=5596) chr9 68422188 68422188 T C het . 2 +intergenic MIR4477B(dist=6915),FRG1JP(dist=5481) chr9 68422303 68422303 G A het . 5 +intergenic MIR4477B(dist=6942),FRG1JP(dist=5454) chr9 68422330 68422330 G A het . 7 +intergenic MIR4477B(dist=6958),FRG1JP(dist=5438) chr9 68422346 68422346 C T het . 6 +intergenic MIR4477B(dist=6960),FRG1JP(dist=5436) chr9 68422348 68422348 C T het . 6 +intergenic MIR4477B(dist=6980),FRG1JP(dist=5416) chr9 68422368 68422368 C T het . 9 +intergenic MIR4477B(dist=7008),FRG1JP(dist=5388) chr9 68422396 68422396 G A het . 8 +intergenic MIR4477B(dist=7021),FRG1JP(dist=5375) chr9 68422409 68422409 G C het . 6 +intergenic MIR4477B(dist=7027),FRG1JP(dist=5369) chr9 68422415 68422415 C T het . 6 +intergenic MIR4477B(dist=7034),FRG1JP(dist=5362) chr9 68422422 68422422 A G het . 6 +intergenic MIR4477B(dist=7039),FRG1JP(dist=5357) chr9 68422427 68422427 C T het . 6 +intergenic MIR4477B(dist=8492),FRG1JP(dist=3904) chr9 68423880 68423880 C G het . 1 +intergenic MIR4477B(dist=8495),FRG1JP(dist=3901) chr9 68423883 68423883 A G het . 1 +intergenic MIR4477B(dist=8543),FRG1JP(dist=3853) chr9 68423931 68423931 C A het . 2 +intergenic MIR4477B(dist=8550),FRG1JP(dist=3846) chr9 68423938 68423938 A G het . 2 +intergenic MIR4477B(dist=8690),FRG1JP(dist=3706) chr9 68424078 68424078 A G het . 4 +intergenic MIR4477B(dist=8695),FRG1JP(dist=3701) chr9 68424083 68424083 C A het . 4 +intergenic MIR4477B(dist=8862),FRG1JP(dist=3534) chr9 68424250 68424250 G T het . 3 +intergenic MIR4477B(dist=8878),FRG1JP(dist=3518) chr9 68424266 68424266 A G het . 2 +intergenic MIR4477B(dist=9520),FRG1JP(dist=2876) chr9 68424908 68424908 T C het . 3 +intergenic MIR4477B(dist=9560),FRG1JP(dist=2836) chr9 68424948 68424948 A - het . 4 +intergenic MIR4477B(dist=9561),FRG1JP(dist=2835) chr9 68424949 68424949 T C het . 4 +intergenic MIR4477B(dist=9656),FRG1JP(dist=2740) chr9 68425044 68425044 G A het . 3 +intergenic MIR4477B(dist=9673),FRG1JP(dist=2723) chr9 68425061 68425061 G C het . 4 +intergenic MIR4477B(dist=9679),FRG1JP(dist=2717) chr9 68425067 68425067 T A het . 4 +intergenic MIR4477B(dist=9733),FRG1JP(dist=2663) chr9 68425121 68425121 A G het . 2 +intergenic MIR4477B(dist=9778),FRG1JP(dist=2618) chr9 68425166 68425166 C T het . 2 +intergenic MIR4477B(dist=9957),FRG1JP(dist=2439) chr9 68425345 68425345 T A het . 5 +intergenic MIR4477B(dist=9963),FRG1JP(dist=2433) chr9 68425351 68425351 A G het . 5 +intergenic MIR4477B(dist=9972),FRG1JP(dist=2424) chr9 68425360 68425360 G T het . 4 +intergenic MIR4477B(dist=9981),FRG1JP(dist=2415) chr9 68425369 68425369 C T het . 3 +intergenic MIR4477B(dist=9996),FRG1JP(dist=2399) chr9 68425384 68425385 GA AG het . 2 +intergenic MIR4477B(dist=10007),FRG1JP(dist=2389) chr9 68425395 68425395 C T het . 1 +intergenic MIR4477B(dist=10133),FRG1JP(dist=2263) chr9 68425521 68425521 A G het . 4 +intergenic MIR4477B(dist=10163),FRG1JP(dist=2233) chr9 68425551 68425551 C T het . 6 +intergenic MIR4477B(dist=10167),FRG1JP(dist=2229) chr9 68425555 68425555 T A het . 6 +intergenic MIR4477B(dist=10176),FRG1JP(dist=2220) chr9 68425564 68425564 A G het . 6 +intergenic MIR4477B(dist=10207),FRG1JP(dist=2189) chr9 68425595 68425595 A - het . 6 +intergenic MIR4477B(dist=10247),FRG1JP(dist=2149) chr9 68425635 68425635 G A het . 6 +intergenic MIR4477B(dist=10261),FRG1JP(dist=2135) chr9 68425649 68425649 G C het . 6 +intergenic MIR4477B(dist=10274),FRG1JP(dist=2122) chr9 68425662 68425662 T C het . 5 +intergenic MIR4477B(dist=10385),FRG1JP(dist=2011) chr9 68425773 68425773 G T het . 2 +intergenic MIR4477B(dist=10435),FRG1JP(dist=1961) chr9 68425823 68425823 A G het . 5 +intergenic MIR4477B(dist=10441),FRG1JP(dist=1955) chr9 68425829 68425829 A G het . 4 +intergenic MIR4477B(dist=10457),FRG1JP(dist=1939) chr9 68425845 68425845 C T het . 3 +ncRNA_exonic FRG1JP chr9 68429085 68429085 A G het . 22 +ncRNA_exonic FRG1JP chr9 68429112 68429112 A G het . 31 +ncRNA_exonic FRG1JP chr9 68429139 68429139 T G het . 32 +ncRNA_intronic FRG1JP chr9 68429211 68429211 T - het . 4 +ncRNA_intronic FRG1JP chr9 68429287 68429287 G A het . 15 +ncRNA_intronic FRG1JP chr9 68429306 68429306 G T het . 19 +ncRNA_intronic FRG1JP chr9 68429913 68429913 G A het . 3 +ncRNA_intronic FRG1JP chr9 68431105 68431105 T C het . 15 +ncRNA_intronic FRG1JP chr9 68431217 68431217 T C het . 8 +ncRNA_intronic FRG1JP chr9 68431652 68431652 C T het . 4 +ncRNA_intronic FRG1JP chr9 68433372 68433372 T C het . 6 +ncRNA_intronic FRG1JP chr9 68433455 68433457 TCA - het . 37 +ncRNA_intronic FRG1JP chr9 68433462 68433462 T C het . 38 +ncRNA_splicing FRG1JP(NR_033907:exon6:c.1157+1G>A) chr9 68433464 68433464 C T het . 38 +ncRNA_exonic FRG1JP chr9 68433468 68433468 G C het . 40 +ncRNA_intronic FRG1JP chr9 68433620 68433620 C T het . 13 +ncRNA_intronic FRG1JP chr9 68433701 68433701 A G het . 2 +ncRNA_intronic FRG1JP chr9 68433752 68433752 A - het . 15 +ncRNA_intronic FRG1JP chr9 68433806 68433806 T C het . 11 +ncRNA_intronic FRG1JP chr9 68437501 68437501 A G het . 8 +ncRNA_intronic FRG1JP chr9 68437509 68437509 C T het . 8 +ncRNA_intronic FRG1JP chr9 68438780 68438780 A G het . 20 +ncRNA_intronic FRG1JP chr9 68438793 68438794 GG CA het . 16 +ncRNA_intronic FRG1JP chr9 68438813 68438813 T C het . 9 +ncRNA_intronic FRG1JP chr9 68438818 68438818 G A het . 9 +intergenic FRG1JP(dist=27250),FRG1HP(dist=243847) chr9 68482618 68482618 C T het . 2 +intergenic FRG1JP(dist=27253),FRG1HP(dist=243844) chr9 68482621 68482621 G A het . 2 +intergenic FRG1HP(dist=250470),MIR1299(dist=3393) chr9 68998846 68998846 C T het . 2 +intergenic FRG1HP(dist=250476),MIR1299(dist=3387) chr9 68998852 68998852 A G het . 3 +intergenic FRG1HP(dist=251662),MIR1299(dist=2201) chr9 69000038 69000038 A T het . 2 +intergenic FRG1HP(dist=251686),MIR1299(dist=2177) chr9 69000062 69000062 T C het . 1 +intergenic FRG1HP(dist=252764),MIR1299(dist=1099) chr9 69001140 69001140 C T het . 2 +intergenic FRG1HP(dist=252791),MIR1299(dist=1072) chr9 69001167 69001167 G A het . 2 +intergenic LINC01506(dist=63364),PIP5K1B(dist=95448) chr9 71224882 71224882 - TGGCCATC het . 16 +intergenic LINC01506(dist=63614),PIP5K1B(dist=95198) chr9 71225132 71225132 C T het . 11 +intronic PIP5K1B chr9 71324160 71324161 TT - het . 1 +intronic PIP5K1B chr9 71324186 71324186 C G het . 2 +intronic PIP5K1B chr9 71363828 71363828 A G het . 1 +intronic TJP2 chr9 71789386 71789386 - CGTGAG het . 6 +intronic TJP2 chr9 71827618 71827618 T C het . 6 +intronic TJP2 chr9 71852760 71852760 G A het . 21 +intronic TJP2 chr9 71854727 71854727 C G het . 5 +intronic TJP2 chr9 71854738 71854741 AAAC - het . 6 +intronic TJP2 chr9 71854769 71854769 C G het . 6 +intronic PTAR1 chr9 72339544 72339544 C T het . 2 +intronic PTAR1 chr9 72374677 72374677 T G het . 2 +intronic C9orf135 chr9 72483600 72483600 A C het . 2 +intergenic C9orf135(dist=108089),MAMDC2(dist=29257) chr9 72629240 72629240 G T het . 2 +ncRNA_intronic SMC5-AS1 chr9 72832770 72832770 G T het . 4 +intronic SMC5 chr9 72893299 72893299 T - het . 7 +intronic SMC5 chr9 72893319 72893319 C A het . 7 +intronic SMC5 chr9 72901096 72901096 T C het . 2 +intronic SMC5 chr9 72915943 72915943 C T het . 2 +intronic SMC5 chr9 72930224 72930224 - AAAA het . 5 +intergenic KLF9(dist=33681),TRPM3(dist=86712) chr9 73063254 73063254 T C het . 2 +intronic TRPM3 chr9 73234066 73234066 G A het . 4 +intronic TRPM3 chr9 73234970 73234970 C A het . 1 +intronic TRPM3 chr9 73240312 73240312 C G het . 12 +intronic TRPM3 chr9 73240335 73240335 - A het . 10 +intronic TRPM3 chr9 73412162 73412162 T G het . 1 +intronic TRPM3 chr9 73424784 73424784 C T het . 4 +intronic TRPM3 chr9 73442724 73442724 C T het . 7 +intronic TRPM3 chr9 73457125 73457125 T C het . 2 +intronic TRPM3 chr9 73457142 73457142 C T het . 2 +splicing TRPM3(NM_024971:exon5:c.218-2->T,NM_020952:exon5:c.218-2->T,NM_001007471:exon5:c.677-2->T,NM_206945:exon5:c.218-2->T,NM_206944:exon5:c.218-2->T,NM_206946:exon5:c.218-2->T,NM_206947:exon5:c.218-2->T,NM_001007470:exon5:c.218-2->T,NM_206948:exon5:c.218-2->T) chr9 73458045 73458045 - A het . 8 +intronic TRPM3 chr9 73461558 73461558 G C het . 5 +intronic CEMIP2 chr9 74324437 74324437 T C het . 11 +intronic CEMIP2 chr9 74344701 74344701 C A het . 10 +intronic CEMIP2 chr9 74349918 74349918 A - het . 5 +intronic C9orf85 chr9 74561883 74561883 G A het . 7 +intronic TMC1 chr9 75345761 75345761 G T het . 2 +intronic TMC1 chr9 75445655 75445655 T - het . 15 +intronic ALDH1A1 chr9 75554952 75554952 A C het . 8 +intronic ALDH1A1 chr9 75554982 75554982 G A het . 11 +intronic ANXA1 chr9 75773598 75773598 C A het . 14 +intergenic ANXA1(dist=17870),LOC101927358(dist=1183267) chr9 75803180 75803180 G A het . 2 +intergenic ANXA1(dist=777890),LOC101927358(dist=423247) chr9 76563200 76563200 T - het . 2 +intronic RORB chr9 77282538 77282538 T G het . 2 +intergenic RORB(dist=6319),TRPM6(dist=23003) chr9 77314408 77314408 G A het . 1 +intronic TRPM6 chr9 77427483 77427483 A - het . 10 +intronic TRPM6 chr9 77457029 77457030 AA - het . 15 +intergenic TRPM6(dist=47296),C9orf40(dist=11192) chr9 77550306 77550307 AA - het . 6 +intronic NMRK1 chr9 77676706 77676706 C A het . 2 +intronic NMRK1 chr9 77681511 77681511 C - het . 2 +UTR5 OSTF1(NM_012383:c.-178C>T) chr9 77703431 77703431 C T het . 2 +ncRNA_intronic MIR548H3 chr9 78160762 78160762 T C het . 1 +intronic PCSK5 chr9 78784493 78784493 A T het . 2 +UTR3 PCSK5(NM_006200:c.*1554A>G) chr9 78809822 78809822 A G het . 2 +intronic PCSK5 chr9 78917015 78917015 - A het . 6 +exonic PCSK5 chr9 78943002 78943002 C T het . 15 +upstream RPSAP9(dist=80) chr9 79013435 79013435 A G het . 2 +ncRNA_exonic RPSAP9 chr9 79014569 79014569 - A het . 2 +intronic PRUNE2 chr9 79252311 79252311 A C het . 3 +intronic PRUNE2 chr9 79259402 79259402 - G het . 3 +exonic PRUNE2 chr9 79321353 79321353 C T het . 6 +intronic PRUNE2 chr9 79356518 79356518 A C het . 1 +intergenic FOXB2(dist=43442),VPS13A-AS1(dist=112361) chr9 79679311 79679311 T C het . 2 +ncRNA_intronic GNA14-AS1 chr9 80109669 80109669 A G het . 3 +intergenic PSAT1(dist=44639),LOC101927450(dist=760690) chr9 80989648 80989648 T C het . 2 +intergenic PSAT1(dist=273678),LOC101927450(dist=531651) chr9 81218687 81218687 T A het . 2 +intergenic PSAT1(dist=472455),LOC101927450(dist=332874) chr9 81417464 81417464 T G het . 4 +intergenic TLE4(dist=80212),LINC01507(dist=17437) chr9 82422008 82422008 C T het . 2 +intergenic LINC01507(dist=17268),TLE1(dist=1531860) chr9 82666738 82666738 G A het . 2 +intergenic LINC01507(dist=195223),TLE1(dist=1353905) chr9 82844693 82844693 G A het . 3 +intergenic LINC01507(dist=308101),TLE1(dist=1241027) chr9 82957571 82957571 A C het . 2 +intergenic LINC01507(dist=322357),TLE1(dist=1226771) chr9 82971827 82971827 T G het . 1 +intergenic LINC01507(dist=479544),TLE1(dist=1069584) chr9 83129014 83129014 T C het . 3 +intergenic LINC01507(dist=656625),TLE1(dist=892503) chr9 83306095 83306095 A C het . 2 +intergenic LINC01507(dist=656643),TLE1(dist=892485) chr9 83306113 83306113 G T het . 2 +intergenic LINC01507(dist=775169),TLE1(dist=773956) chr9 83424639 83424642 TAAT - het . 2 +intergenic LINC01507(dist=775193),TLE1(dist=773935) chr9 83424663 83424663 A G het . 2 +intergenic LINC01507(dist=853970),TLE1(dist=695158) chr9 83503440 83503440 T - het . 3 +intergenic LINC01507(dist=931496),TLE1(dist=617632) chr9 83580966 83580966 A G het . 2 +intergenic LINC01507(dist=1501435),TLE1(dist=47693) chr9 84150905 84150905 C T het . 1 +intergenic LINC01507(dist=1505215),TLE1(dist=43913) chr9 84154685 84154685 C T het . 1 +downstream TLE1(dist=424) chr9 84198174 84198174 - GAAA het . 1 +intronic TLE1 chr9 84223982 84223982 C T het . 4 +intergenic LOC101927502(dist=40877),SPATA31D5P(dist=95661) chr9 84432691 84432691 A - het . 2 +intergenic LOC101927502(dist=75582),SPATA31D5P(dist=60956) chr9 84467396 84467396 G A het . 2 +ncRNA_exonic SPATA31D5P chr9 84528394 84528394 C T het . 10 +intergenic SPATA31D1(dist=436819),RASEF(dist=547510) chr9 85046990 85046990 A C het . 17 +intergenic SPATA31D1(dist=640328),RASEF(dist=344001) chr9 85250499 85250499 G - het . 2 +intergenic SPATA31D1(dist=749340),RASEF(dist=234989) chr9 85359511 85359511 G A het . 1 +intronic RASEF chr9 85597721 85597726 AGAGAG - het . 3 +intronic RASEF chr9 85619330 85619330 - TTTATTCTATTA het . 10 +intronic RASEF chr9 85619352 85619356 TTTAC - het . 13 +intronic FRMD3 chr9 85905737 85905737 C G het . 1 +intronic FRMD3 chr9 85924257 85924257 G A het . 1 +intronic FRMD3 chr9 85964735 85964735 C A het . 2 +intronic GKAP1 chr9 86367975 86367975 - AAC het . 3 +exonic KIF27 chr9 86468715 86468715 A T het . 5 +intronic KIF27 chr9 86485623 86485625 TTT - het . 4 +exonic KIF27 chr9 86518917 86518917 C A het . 4 +intronic KIF27 chr9 86523674 86523674 T - het . 4 +exonic RMI1 chr9 86616109 86616109 C A het . 20 +intergenic LOC101927575(dist=133094),SLC28A3(dist=48177) chr9 86842588 86842588 - G het . 2 +intronic SLC28A3 chr9 86894088 86894091 AAAA - het . 2 +intergenic SLC28A3(dist=11120),NTRK2(dist=288840) chr9 86994533 86994533 T C het . 2 +intergenic SLC28A3(dist=11135),NTRK2(dist=288825) chr9 86994548 86994548 T - het . 2 +intergenic SLC28A3(dist=292875),NTRK2(dist=7085) chr9 87276288 87276288 C G het . 1 +intergenic SLC28A3(dist=292884),NTRK2(dist=7075) chr9 87276297 87276298 TT - het . 1 +intronic NTRK2 chr9 87323373 87323373 - T het . 3 +intronic NTRK2 chr9 87332928 87332928 C A het . 3 +intronic NTRK2 chr9 87338267 87338267 T A het . 5 +UTR3 NTRK2(NM_001291937:c.*113C>A,NM_001007097:c.*113C>A) chr9 87425607 87425607 C A het . 13 +intergenic NTRK2(dist=334871),AGTPBP1(dist=184598) chr9 87976856 87976856 T C het . 7 +intergenic NTRK2(dist=334939),AGTPBP1(dist=184530) chr9 87976924 87976924 C A het . 3 +intronic AGTPBP1 chr9 88280276 88280276 G T het . 2 +intergenic LOC389765(dist=56638),NAA35(dist=41625) chr9 88514432 88514432 G T het . 14 +intronic NAA35 chr9 88636785 88636785 A C het . 10 +intergenic GOLM1(dist=14227),LOC101927623(dist=13111) chr9 88729343 88729344 TG - het . 2 +intronic C9orf153 chr9 88842954 88842954 A - het . 8 +upstream ISCA1(dist=100) chr9 88897590 88897590 G A het . 5 +intronic TUT7 chr9 88919625 88919625 G T het . 2 +intronic TUT7 chr9 88919648 88919648 A T het . 6 +intronic TUT7 chr9 88935772 88935772 G C het . 1 +intronic TUT7 chr9 88937480 88937480 C G het . 2 +intergenic TUT7(dist=333774),GAS1(dist=256101) chr9 89303176 89303176 - TTGT het . 2 +intergenic C9orf170(dist=15760),DAPK1(dist=321742) chr9 89790401 89790401 T C het . 2 +intronic DAPK1 chr9 90140230 90140231 AG CC het . 14 +intronic DAPK1 chr9 90258248 90258248 C T het . 9 +intronic DAPK1 chr9 90258537 90258537 G A het . 2 +intronic DAPK1 chr9 90261695 90261695 A G het . 4 +ncRNA_intronic CTSL3P chr9 90387996 90387996 A T het . 8 +ncRNA_intronic LOC497256 chr9 90503759 90503759 C A het . 3 +intergenic SPATA31C2(dist=28172),SPIN1(dist=221729) chr9 90781568 90781568 T C het . 2 +intergenic SPATA31C2(dist=42605),SPIN1(dist=207296) chr9 90796001 90796001 G A het . 3 +intergenic SPATA31C2(dist=42920),SPIN1(dist=206981) chr9 90796316 90796316 T C het . 4 +intergenic SPATA31C2(dist=43411),SPIN1(dist=206490) chr9 90796807 90796807 - A het . 2 +intergenic SPATA31C2(dist=46063),SPIN1(dist=203838) chr9 90799459 90799459 - A het . 2 +intergenic SPATA31C2(dist=137187),SPIN1(dist=112714) chr9 90890583 90890583 G A het . 2 +intronic SPIN1 chr9 91025893 91025893 G T het . 48 +intronic NXNL2 chr9 91185986 91185986 - T het . 13 +intergenic NXNL2(dist=5651),MIR4289(dist=164396) chr9 91196355 91196355 T - het . 4 +intergenic NXNL2(dist=89689),MIR4289(dist=80358) chr9 91280393 91280393 A G het . 3 +intergenic MIR4289(dist=75141),C9orf47(dist=169817) chr9 91435961 91435961 C T het . 2 +intergenic MIR4289(dist=92586),C9orf47(dist=152372) chr9 91453406 91453406 C T het . 2 +intergenic MIR4289(dist=94406),C9orf47(dist=150552) chr9 91455226 91455226 G A het . 1 +intergenic MIR4289(dist=125120),C9orf47(dist=119838) chr9 91485940 91485940 T G het . 2 +intergenic MIR4289(dist=154422),C9orf47(dist=90536) chr9 91515242 91515242 A G het . 1 +intergenic MIR4289(dist=155757),C9orf47(dist=89201) chr9 91516577 91516577 - T het . 1 +intergenic MIR4289(dist=155780),C9orf47(dist=89178) chr9 91516600 91516600 C T het . 1 +intergenic MIR4289(dist=162772),C9orf47(dist=82186) chr9 91523592 91523592 T G het . 1 +intergenic MIR4289(dist=183594),C9orf47(dist=61364) chr9 91544414 91544414 T C het . 1 +intergenic MIR4289(dist=231167),C9orf47(dist=13791) chr9 91591987 91591987 G A het . 1 +intergenic MIR4289(dist=231209),C9orf47(dist=13749) chr9 91592029 91592029 G A het . 2 +exonic S1PR3 chr9 91616811 91616811 C A het . 17 +intronic SHC3 chr9 91650036 91650036 A G het . 2 +intronic SHC3 chr9 91669641 91669641 C T het . 2 +intronic SHC3 chr9 91680570 91680570 A G het . 7 +intronic SHC3 chr9 91680600 91680600 A G het . 5 +UTR3 SEMA4D(NM_006378:c.*735delT) chr9 91992884 91992884 A - het . 3 +intronic SEMA4D chr9 92016259 92016259 - C het . 2 +intronic SEMA4D chr9 92065576 92065576 A G het . 10 +intronic SEMA4D chr9 92077871 92077880 GGGAGCGAGC - het . 1 +intergenic UNQ6494(dist=344689),LOC101927847(dist=52335) chr9 92679363 92679363 A - het . 2 +intergenic MIR4290HG(dist=40650),LINC01508(dist=218747) chr9 92844431 92844431 G C het . 2 +intergenic MIR4290HG(dist=92316),LINC01508(dist=167081) chr9 92896097 92896097 G A het . 1 +ncRNA_intronic LINC01508 chr9 93156688 93156688 C A het . 2 +ncRNA_intronic LINC01501 chr9 93242422 93242422 A G het . 2 +ncRNA_intronic LINC01501 chr9 93339641 93339641 A - het . 4 +ncRNA_intronic LINC01501 chr9 93339653 93339653 A C het . 4 +intergenic DIRAS2(dist=61020),SYK(dist=97555) chr9 93466407 93466407 A G het . 1 +intergenic DIRAS2(dist=127800),SYK(dist=30775) chr9 93533187 93533187 A G het . 2 +intergenic DIRAS2(dist=154185),SYK(dist=4390) chr9 93559572 93559572 G A het . 2 +upstream SYK(dist=695) chr9 93563266 93563267 TT - het . 2 +intronic SYK chr9 93628105 93628105 A G het . 3 +intergenic SYK(dist=5282),LOC100129316(dist=159452) chr9 93666124 93666124 C T het . 2 +intergenic SYK(dist=16647),LOC100129316(dist=148087) chr9 93677489 93677489 A T het . 1 +intergenic SYK(dist=40827),LOC100129316(dist=123907) chr9 93701669 93701669 G A het . 2 +intergenic SYK(dist=86606),LOC100129316(dist=78128) chr9 93747448 93747448 G A het . 2 +intergenic SYK(dist=122184),LOC100129316(dist=42550) chr9 93783026 93783026 G C het . 4 +intergenic SYK(dist=122205),LOC100129316(dist=42529) chr9 93783047 93783047 C A het . 4 +intergenic SYK(dist=156915),LOC100129316(dist=7819) chr9 93817757 93817757 C T het . 2 +intergenic LINC00484(dist=22740),AUH(dist=8313) chr9 93967784 93967784 C A het . 2 +intergenic LINC00484(dist=25808),AUH(dist=5245) chr9 93970852 93970852 C T het . 1 +intergenic NFIL3(dist=187634),MIR3910-1(dist=23991) chr9 94374542 94374542 C A het . 11 +intronic ROR2 chr9 94563880 94563880 A G het . 2 +intronic ROR2 chr9 94599424 94599424 T - het . 5 +intronic ROR2 chr9 94599432 94599432 T G het . 5 +intronic ROR2 chr9 94635928 94635928 T C het . 2 +intronic ROR2 chr9 94647016 94647016 C A het . 2 +intronic ROR2 chr9 94647024 94647024 T C het . 2 +intronic ROR2 chr9 94656709 94656709 T C het . 2 +intergenic ROR2(dist=55716),SPTLC1(dist=25256) chr9 94768160 94768160 A - het . 17 +intronic SPTLC1 chr9 94874894 94874894 C A het . 24 +intronic SPTLC1 chr9 94877033 94877036 AAAT - het . 2 +ncRNA_intronic LOC100128076 chr9 94898866 94898866 G C het . 2 +intergenic LINC00475(dist=18757),PRSS47(dist=5967) chr9 94940647 94940647 T G het . 5 +intronic IARS chr9 94991509 94991509 A T het . 10 +intronic IARS chr9 95053535 95053535 G A het . 2 +exonic NOL8 chr9 95077384 95077384 C A het . 36 +intronic CENPP chr9 95107774 95107774 A - het . 7 +exonic OMD chr9 95179448 95179448 C A het . 46 +intronic CENPP chr9 95195229 95195229 C T het . 2 +UTR3 ECM2(NM_001197296:c.*191T>C) chr9 95256174 95256174 A G het . 2 +intronic CENPP,ECM2 chr9 95296058 95296058 G A het . 2 +intergenic IPPK(dist=6893),BICD2(dist=34205) chr9 95439440 95439440 C T het . 5 +ncRNA_intronic ANKRD19P chr9 95580727 95580730 TTTG - het . 17 +ncRNA_intronic ANKRD19P chr9 95580746 95580746 T - het . 19 +ncRNA_intronic ANKRD19P chr9 95584220 95584220 T G het . 2 +ncRNA_intronic ANKRD19P chr9 95584244 95584244 A C het . 3 +ncRNA_intronic ANKRD19P chr9 95599020 95599020 T - het . 2 +intronic ZNF484 chr9 95618658 95618658 A - het . 7 +intronic ZNF484 chr9 95622929 95622929 C A het . 1 +intronic ZNF484 chr9 95626631 95626631 C T het . 3 +intronic ZNF484 chr9 95633759 95633759 G A het . 3 +ncRNA_exonic LOC642943 chr9 95650044 95650049 GGGGCA - het . 19 +intergenic LOC642943(dist=8631),FGD3(dist=49133) chr9 95660468 95660468 A G het . 1 +intergenic LOC642943(dist=33778),FGD3(dist=23983) chr9 95685615 95685618 TTTG - het . 2 +intronic FGD3 chr9 95749714 95749714 A - het . 2 +exonic SUSD3 chr9 95840256 95840256 A G het . 29 +exonic SUSD3 chr9 95840269 95840269 C A het . 26 +intronic SUSD3 chr9 95842623 95842623 C A het . 3 +intronic SUSD3 chr9 95842629 95842629 T C het . 3 +intronic CARD19 chr9 95874311 95874311 C T het . 6 +intronic CARD19 chr9 95874428 95874428 G A het . 2 +intergenic NINJ1(dist=1375),WNK2(dist=49267) chr9 95897945 95897945 A G het . 3 +intergenic NINJ1(dist=35976),WNK2(dist=14666) chr9 95932546 95932546 C T het . 2 +intronic WNK2 chr9 95979106 95979109 AACA - het . 2 +intronic WNK2 chr9 95992213 95992213 A G het . 4 +intronic WNK2 chr9 96000622 96000622 C T het . 16 +exonic WNK2 chr9 96021368 96021368 A C het . 29 +intronic WNK2 chr9 96065418 96065418 T G het . 2 +intronic C9orf129 chr9 96103121 96103121 G A het . 1 +intronic C9orf129 chr9 96105431 96105431 G A het . 1 +intergenic C9orf129(dist=84236),FAM120AOS(dist=15845) chr9 96192932 96192932 - CAGCC het . 2 +intronic FAM120A chr9 96230194 96230194 G A het . 1 +intronic FAM120A chr9 96242654 96242654 T C het . 1 +intronic FAM120A chr9 96253470 96253470 G C het . 1 +intronic PHF2 chr9 96359030 96359030 T - het . 2 +intronic PHF2 chr9 96370291 96370291 - AA het . 2 +intronic PHF2 chr9 96420390 96420390 A G het . 11 +intronic PHF2 chr9 96420398 96420398 A C het . 10 +exonic PHF2 chr9 96439004 96439004 - CCTGCCTCCACCACA het . 15 +intronic PHF2 chr9 96439801 96439801 A C het . 8 +intergenic PHF2(dist=35131),MIR4291(dist=104639) chr9 96477000 96477000 A G het . 1 +intergenic PHF2(dist=93840),MIR4291(dist=45930) chr9 96535709 96535709 T G het . 1 +intergenic MIR4291(dist=99685),BARX1(dist=32521) chr9 96681388 96681388 A G het . 1 +exonic BARX1 chr9 96714478 96714478 C A het . 35 +exonic BARX1 chr9 96714491 96714491 C G het . 41 +intergenic PTPDC1(dist=20506),MIRLET7A1(dist=45595) chr9 96892644 96892644 T A het . 3 +ncRNA_intronic LINC02603 chr9 96962907 96962907 - TT het . 2 +intergenic LINC02603(dist=3349),ZNF169(dist=51351) chr9 96970197 96970197 G A het . 3 +intergenic LINC02603(dist=41364),ZNF169(dist=13336) chr9 97008212 97008212 T C het . 1 +intronic ZNF169 chr9 97027862 97027862 A - het . 5 +intronic ZNF169 chr9 97041037 97041037 C G het . 5 +intergenic ZNF169(dist=2473),NUTM2F(dist=13894) chr9 97066584 97066584 C T het . 2 +intronic MFSD14B chr9 97149710 97149710 T - het . 3 +intergenic MFSD14B(dist=51900),PCAT7(dist=42225) chr9 97275102 97275102 T A het . 11 +intergenic MFSD14B(dist=84381),PCAT7(dist=9744) chr9 97307583 97307583 T C het . 3 +ncRNA_intronic PCAT7 chr9 97328053 97328060 GATAGATA - het . 2 +intergenic FBP2(dist=1286),FBP1(dist=8021) chr9 97357400 97357400 C A het . 2 +exonic FBP1 chr9 97369149 97369149 C T het . 37 +exonic FBP1 chr9 97369151 97369151 G A het . 37 +intronic FBP1 chr9 97374832 97374832 T C het . 1 +intergenic FBP1(dist=14725),C9orf3(dist=71695) chr9 97417256 97417256 T A het . 3 +intronic C9orf3 chr9 97608113 97608113 G A het . 1 +intronic C9orf3 chr9 97789791 97789791 T C het . 2 +intronic C9orf3 chr9 97807958 97807958 G A het . 2 +intronic C9orf3 chr9 97807983 97807983 T C het . 3 +downstream C9orf3(dist=331) chr9 97849831 97849831 C - het . 4 +intronic FANCC chr9 98009494 98009494 C T het . 2 +exonic FANCC chr9 98011526 98011526 C G het . 39 +intergenic FANCC(dist=58170),PTCH1(dist=67101) chr9 98138161 98138161 G T het . 2 +intergenic FANCC(dist=78297),PTCH1(dist=46974) chr9 98158288 98158288 C T het . 1 +intergenic FANCC(dist=113976),PTCH1(dist=11295) chr9 98193967 98193967 A G het . 3 +ncRNA_exonic LOC100507346 chr9 98231008 98231008 A G het . 30 +intronic PTCH1 chr9 98240120 98240120 G A het . 9 +intronic PTCH1 chr9 98248264 98248264 C A het . 20 +intergenic PTCH1(dist=144218),LINC00476(dist=144813) chr9 98423557 98423557 G A het . 1 +intergenic PTCH1(dist=159901),LINC00476(dist=129130) chr9 98439240 98439240 T C het . 1 +intergenic PTCH1(dist=205106),LINC00476(dist=83923) chr9 98484445 98484447 TAG - het . 3 +exonic ERCC6L2 chr9 98643151 98643151 A G het . 23 +intronic ERCC6L2 chr9 98703712 98703712 T - het . 17 +ncRNA_intronic LOC158434 chr9 98871378 98871378 C T het . 7 +intronic HSD17B3 chr9 99001430 99001430 G T het . 1 +intronic HSD17B3 chr9 99004239 99004239 C A het . 2 +intronic HSD17B3 chr9 99006578 99006578 T C het . 25 +intronic HSD17B3 chr9 99015259 99015259 C T het . 21 +intronic HSD17B3 chr9 99038434 99038434 C T het . 2 +intergenic HSD17B3(dist=5633),SLC35D2(dist=12921) chr9 99070067 99070067 A - het . 2 +intronic SLC35D2 chr9 99141565 99141565 G T het . 2 +intronic HABP4 chr9 99220909 99220911 TTT - het . 5 +intronic HABP4 chr9 99233177 99233177 A - het . 3 +intronic HABP4 chr9 99238883 99238883 G A het . 3 +intronic CDC14B chr9 99315643 99315647 TTTTT - het . 4 +intronic PRXL2C chr9 99408152 99408152 T C het . 9 +intergenic LOC100132781(dist=17174),LOC441454(dist=19673) chr9 99651684 99651684 - T het . 4 +exonic NUTM2G chr9 99699485 99699485 G C het . 10 +intronic CTSV chr9 99797146 99797146 C A het . 22 +intronic CTSV chr9 99799101 99799101 C T het . 5 +ncRNA_intronic SUGT1P4-STRA6LP,SUGT1P4-STRA6LP-CCDC180 chr9 100041610 100041610 C G het . 12 +ncRNA_intronic SUGT1P4-STRA6LP,SUGT1P4-STRA6LP-CCDC180 chr9 100041617 100041617 C T het . 11 +ncRNA_intronic SUGT1P4-STRA6LP,SUGT1P4-STRA6LP-CCDC180 chr9 100052960 100052960 A C het . 18 +ncRNA_intronic SUGT1P4-STRA6LP-CCDC180 chr9 100087211 100087211 G A het . 2 +ncRNA_intronic SUGT1P4-STRA6LP-CCDC180 chr9 100087220 100087220 A G het . 2 +exonic CCDC180 chr9 100092968 100092968 - GAGGAG het . 20 +intronic TDRD7 chr9 100201504 100201504 T - het . 12 +exonic TDRD7 chr9 100222829 100222829 C A het . 34 +exonic TDRD7 chr9 100227233 100227233 C A het . 35 +exonic TDRD7 chr9 100243138 100243138 C G het . 34 +UTR3 TRMO(NM_001330725:c.*84G>A,NM_016481:c.*84G>A) chr9 100666931 100666931 C T het . 1 +intronic TRMO chr9 100681644 100681644 - A het . 3 +intronic HEMGN chr9 100700242 100700242 - T het . 4 +exonic TBC1D2 chr9 100970988 100970988 C A het . 4 +intronic GABBR2 chr9 101118907 101118907 C T het . 2 +intronic GABBR2 chr9 101221119 101221119 A C het . 2 +intronic GABBR2 chr9 101221143 101221143 G A het . 2 +intronic GABBR2 chr9 101223274 101223274 A C het . 2 +intronic GABBR2 chr9 101224280 101224280 C T het . 1 +intronic GABBR2 chr9 101228351 101228351 A G het . 6 +intronic GABBR2 chr9 101370247 101370247 C A het . 43 +intronic GABBR2 chr9 101392755 101392755 C T het . 2 +intronic GABBR2 chr9 101460267 101460267 G A het . 1 +intronic GABBR2 chr9 101461191 101461191 T C het . 2 +intronic GABBR2 chr9 101467041 101467041 - A het . 2 +intronic ANKS6 chr9 101539601 101539601 G A het . 13 +intronic ANKS6 chr9 101552955 101552955 T C het . 1 +intergenic ANKS6(dist=7905),GALNT12(dist=3252) chr9 101566729 101566729 - GT het . 2 +intronic GALNT12 chr9 101602228 101602228 G A het . 25 +intergenic GALNT12(dist=19635),COL15A1(dist=73997) chr9 101631998 101631998 C T het . 2 +intergenic GALNT12(dist=25172),COL15A1(dist=68458) chr9 101637535 101637537 AAC - het . 2 +intergenic GALNT12(dist=44708),COL15A1(dist=48924) chr9 101657071 101657071 T C het . 3 +intergenic GALNT12(dist=69617),COL15A1(dist=24015) chr9 101681980 101681980 C A het . 1 +intronic COL15A1 chr9 101749498 101749498 C A het . 4 +intronic TGFBR1 chr9 101890758 101890758 A T het . 7 +intronic TGFBR1 chr9 101911437 101911437 T - het . 26 +intergenic TGFBR1(dist=20895),ALG2(dist=41339) chr9 101937368 101937368 T A het . 2 +exonic ALG2 chr9 101980720 101980720 C A het . 35 +intergenic SEC61B(dist=66531),NAMA(dist=58190) chr9 102059432 102059432 - A het . 2 +intergenic SEC61B(dist=99148),NAMA(dist=25573) chr9 102092049 102092049 - G het . 2 +ncRNA_intronic NAMA chr9 102123746 102123746 T C het . 1 +ncRNA_intronic NAMA chr9 102129138 102129138 A C het . 3 +intergenic NAMA(dist=6524),LOC101928438(dist=204005) chr9 102144063 102144063 G T het . 2 +ncRNA_exonic LOC101928438 chr9 102350820 102350820 T A het . 1 +ncRNA_intronic LOC101928438 chr9 102555071 102555071 T A het . 2 +ncRNA_intronic LOC101928438 chr9 102555087 102555087 T G het . 3 +ncRNA_intronic LOC101928438 chr9 102557703 102557703 A T het . 1 +intronic NR4A3 chr9 102625834 102625834 T C het . 4 +intronic STX17 chr9 102706799 102706799 T - het . 2 +intronic STX17 chr9 102708056 102708056 T - het . 22 +intronic STX17 chr9 102713580 102713580 G A het . 23 +intronic STX17 chr9 102713591 102713591 T C het . 21 +intronic ERP44 chr9 102783242 102783242 C A het . 4 +intronic ERP44 chr9 102805573 102805573 A G het . 2 +intronic ERP44 chr9 102814960 102814960 A G het . 2 +intronic ERP44 chr9 102855925 102855925 T G het . 1 +intronic INVS chr9 102879730 102879730 G A het . 17 +intronic INVS chr9 102988293 102988293 T A het . 22 +exonic INVS chr9 102988427 102988427 C A het . 36 +intronic INVS chr9 103027227 103027227 T - het . 23 +intronic INVS chr9 103060386 103060386 T G het . 18 +intronic TEX10 chr9 103075761 103075761 T C het . 3 +intronic TEX10 chr9 103075796 103075796 A - het . 2 +intronic TEX10 chr9 103076372 103076372 T - het . 4 +intronic TEX10 chr9 103108284 103108284 G T het . 6 +intronic TEX10 chr9 103111965 103111965 C T het . 2 +intronic MSANTD3-TMEFF1 chr9 103217387 103217387 T A het . 2 +intronic MSANTD3-TMEFF1 chr9 103217396 103217396 T C het . 2 +intronic MSANTD3-TMEFF1,TMEFF1 chr9 103275676 103275676 T - het . 17 +intronic MSANTD3-TMEFF1,TMEFF1 chr9 103275692 103275692 T A het . 20 +intergenic CAVIN4(dist=156822),PLPPR1(dist=283540) chr9 103507491 103507491 T C het . 2 +intergenic CAVIN4(dist=168657),PLPPR1(dist=271705) chr9 103519326 103519326 A G het . 3 +intronic PLPPR1 chr9 103977559 103977559 G C het . 1 +UTR3 BAAT(NM_001127610:c.*46G>A,NM_001701:c.*46G>A) chr9 104124664 104124664 C T het . 16 +intronic BAAT chr9 104130752 104130752 C A het . 12 +intergenic ALDOB(dist=6317),TMEM246-AS1(dist=26348) chr9 104204373 104204373 A G het . 4 +intergenic ALDOB(dist=13058),TMEM246-AS1(dist=19607) chr9 104211114 104211114 - AAGA het . 6 +intergenic ALDOB(dist=25177),TMEM246-AS1(dist=7488) chr9 104223233 104223233 C G het . 2 +intronic TMEM246 chr9 104244553 104244553 C T het . 3 +intronic RNF20 chr9 104306989 104306989 A - het . 5 +exonic GRIN3A chr9 104375759 104375759 C A het . 33 +exonic GRIN3A chr9 104385711 104385712 CA TG het . 39 +intronic GRIN3A chr9 104390519 104390519 C A het . 9 +exonic GRIN3A chr9 104432967 104432967 C A het . 27 +exonic GRIN3A chr9 104449217 104449217 G A het . 29 +intronic GRIN3A chr9 104474060 104474060 A G het . 2 +UTR5 GRIN3A(NM_133445:c.-122A>T) chr9 104500383 104500383 T A het . 7 +intergenic GRIN3A(dist=20397),LINC00587(dist=760660) chr9 104521259 104521259 A G het . 1 +intergenic GRIN3A(dist=137422),LINC00587(dist=643635) chr9 104638284 104638284 C A het . 2 +intergenic GRIN3A(dist=254147),LINC00587(dist=526910) chr9 104755009 104755009 T C het . 4 +intergenic GRIN3A(dist=259132),LINC00587(dist=521925) chr9 104759994 104759994 G A het . 1 +intergenic GRIN3A(dist=479129),LINC00587(dist=301928) chr9 104979991 104979991 G A het . 2 +intergenic GRIN3A(dist=675961),LINC00587(dist=105096) chr9 105176823 105176823 G T het . 3 +intergenic LINC00587(dist=67350),CYLC2(dist=270452) chr9 105487141 105487141 G A het . 3 +intergenic CYLC2(dist=61902),LINC01492(dist=60138) chr9 105842672 105842672 C T het . 2 +intergenic LOC101928523(dist=58908),SMC2-AS1(dist=20634) chr9 106821671 106821671 T G het . 4 +exonic SMC2 chr9 106857736 106857736 A C het . 26 +intronic SMC2 chr9 106860969 106860969 T C het . 4 +intronic SMC2 chr9 106875547 106875547 G A het . 9 +intergenic SMC2(dist=65730),LOC105376194(dist=63080) chr9 106969430 106969430 T C het . 2 +intergenic LOC105376194(dist=141736),OR13F1(dist=75949) chr9 107190595 107190595 G A het . 1 +intergenic LOC105376194(dist=177559),OR13F1(dist=40126) chr9 107226418 107226418 A C het . 2 +exonic OR13C5 chr9 107361129 107361129 C T het . 20 +exonic OR13C5 chr9 107361186 107361186 C A het . 4 +intergenic OR13D1(dist=19558),NIPSNAP3A(dist=32548) chr9 107477301 107477301 A - het . 2 +intronic NIPSNAP3A chr9 107515618 107515618 T G het . 3 +UTR3 NIPSNAP3A(NM_001329570:c.*104T>G,NM_015469:c.*104T>G) chr9 107521723 107521723 T G het . 10 +intronic ABCA1 chr9 107554872 107554872 C A het . 5 +exonic ABCA1 chr9 107576747 107576747 T C het . 27 +intronic ABCA1 chr9 107582103 107582103 C T het . 8 +intronic ABCA1 chr9 107624124 107624126 AAA - het . 14 +intergenic ABCA1(dist=126241),SLC44A1(dist=190118) chr9 107816768 107816768 G C het . 2 +intergenic ABCA1(dist=145929),SLC44A1(dist=170430) chr9 107836456 107836456 A T het . 5 +intergenic ABCA1(dist=275220),SLC44A1(dist=41139) chr9 107965747 107965747 T - het . 2 +intronic FSD1L chr9 108210571 108210571 T G het . 3 +intronic FSD1L chr9 108246658 108246658 G A het . 12 +intronic FSD1L chr9 108298981 108298981 G A het . 2 +intronic FKTN chr9 108374833 108374833 G A het . 2 +intronic TMEM38B chr9 108521635 108521635 C T het . 6 +intergenic TMEM38B(dist=51888),MIR8081(dist=772429) chr9 108590780 108590780 C A het . 6 +intergenic TMEM38B(dist=530645),MIR8081(dist=293672) chr9 109069537 109069537 T C het . 2 +intergenic TMEM38B(dist=622479),MIR8081(dist=201838) chr9 109161371 109161371 T A het . 1 +intergenic TMEM38B(dist=749171),MIR8081(dist=75146) chr9 109288063 109288063 - ATAA het . 2 +intergenic TMEM38B(dist=776054),MIR8081(dist=48263) chr9 109314946 109314946 A - het . 2 +intergenic LINC01505(dist=42783),ZNF462(dist=140514) chr9 109484864 109484864 T G het . 6 +exonic ZNF462 chr9 109690546 109690546 C A het . 10 +exonic ZNF462 chr9 109701202 109701202 C A het . 7 +intergenic LOC340512(dist=121854),RAD23B(dist=58394) chr9 109987123 109987123 G A het . 2 +intronic RAD23B chr9 110081018 110081018 A G het . 8 +intronic RAD23B chr9 110085992 110085992 G C het . 6 +ncRNA_intronic LINC01509 chr9 110220225 110220226 AA - het . 4 +intergenic KLF4(dist=574536),ACTL7B(dist=790332) chr9 110826537 110826537 C T het . 2 +intergenic KLF4(dist=574545),ACTL7B(dist=790323) chr9 110826546 110826546 A G het . 2 +intergenic KLF4(dist=675005),ACTL7B(dist=689863) chr9 110927006 110927006 A - het . 2 +intergenic KLF4(dist=826791),ACTL7B(dist=538077) chr9 111078792 111078792 A - het . 2 +intergenic KLF4(dist=985448),ACTL7B(dist=379420) chr9 111237449 111237449 G A het . 2 +intergenic KLF4(dist=1189921),ACTL7B(dist=174947) chr9 111441922 111441922 C T het . 1 +intergenic KLF4(dist=1230622),ACTL7B(dist=134246) chr9 111482623 111482623 - TT het . 2 +intronic ELP1 chr9 111637331 111637332 CC AG het . 18 +intronic ELP1 chr9 111673110 111673110 - A het . 4 +intronic ELP1 chr9 111673137 111673137 G C het . 4 +intronic CTNNAL1 chr9 111751717 111751717 T C het . 2 +intronic CTNNAL1 chr9 111751720 111751720 A G het . 2 +exonic FRRS1L chr9 111929420 111929421 CG GC het . 2 +exonic FRRS1L chr9 111929430 111929430 G A het . 2 +intergenic MIR3927(dist=33836),PALM2(dist=95407) chr9 112307661 112307661 A G het . 2 +intronic PALM2 chr9 112524827 112524827 T C het . 1 +intronic PALM2,PALM2-AKAP2 chr9 112543125 112543125 G A het . 1 +intronic PALM2-AKAP2 chr9 112787067 112787067 A - het . 8 +intronic AKAP2,PALM2-AKAP2 chr9 112856189 112856189 C T het . 2 +exonic AKAP2,PALM2-AKAP2 chr9 112899361 112899361 A C het . 24 +exonic AKAP2,PALM2-AKAP2 chr9 112899370 112899372 CAG - het . 18 +UTR3 TXNDC8(NM_001286946:c.*83G>T,NM_001003936:c.*83G>T) chr9 113065879 113065879 C A het . 34 +intronic SVEP1 chr9 113128845 113128845 A - het . 7 +exonic SVEP1 chr9 113169630 113169631 TG CA het . 13 +intronic SVEP1 chr9 113192388 113192389 TT - het . 5 +upstream MUSK(dist=734) chr9 113430317 113430317 C A het . 2 +intronic MUSK chr9 113468252 113468252 T C het . 8 +intronic MUSK chr9 113547395 113547395 T C het . 2 +intergenic MUSK(dist=37963),LPAR1(dist=34291) chr9 113601241 113601241 - AA het . 1 +intergenic MUSK(dist=37979),LPAR1(dist=34274) chr9 113601257 113601258 AC - het . 1 +intergenic LPAR1(dist=54180),MIR7702(dist=177717) chr9 113855719 113855719 G A het . 2 +exonic OR2K2 chr9 114090279 114090279 A G het . 14 +exonic OR2K2 chr9 114090286 114090286 C T het . 15 +intronic ECPAS chr9 114170767 114170767 A G het . 5 +intronic ECPAS chr9 114173098 114173098 C T het . 5 +intronic ECPAS chr9 114180036 114180039 AAAG - het . 7 +intronic ECPAS chr9 114188975 114188975 A - het . 2 +intronic ECPAS chr9 114223334 114223334 - A het . 2 +intergenic ECPAS(dist=22610),ZNF483(dist=17804) chr9 114269635 114269635 G A het . 1 +exonic ZNF483 chr9 114289719 114289719 C A het . 18 +intronic ZNF483 chr9 114293082 114293082 C T het . 6 +intronic PTGR1,ZNF483 chr9 114325612 114325612 C A het . 7 +intronic PTGR1,ZNF483 chr9 114326558 114326560 TTA - het . 11 +intronic PTGR1 chr9 114356367 114356367 T C het . 8 +intronic PTGR1 chr9 114356393 114356393 A G het . 12 +intergenic DNAJC25-GNG10(dist=12009),C9orf84(dist=4264) chr9 114444535 114444535 T C het . 1 +intronic C9orf84 chr9 114456322 114456322 - TAAG het . 19 +intronic C9orf84 chr9 114467478 114467478 T C het . 9 +intronic C9orf84 chr9 114467703 114467703 - T het . 9 +intronic C9orf84 chr9 114482980 114482980 C T het . 2 +intronic C9orf84 chr9 114511409 114511409 C T het . 2 +intronic C9orf84 chr9 114511438 114511438 C T het . 2 +intronic C9orf84 chr9 114537978 114537978 A T het . 2 +intronic C9orf84 chr9 114538385 114538385 C A het . 6 +intronic C9orf84 chr9 114538460 114538460 G A het . 3 +intronic C9orf84 chr9 114538492 114538492 - A het . 2 +intronic C9orf84 chr9 114543400 114543400 A G het . 5 +intergenic C9orf84(dist=36226),UGCG(dist=77041) chr9 114582005 114582005 C T het . 1 +intergenic C9orf84(dist=111481),UGCG(dist=1786) chr9 114657260 114657260 T C het . 3 +intronic UGCG chr9 114677047 114677051 TTTTG - het . 10 +intronic UGCG chr9 114681232 114681232 - A het . 2 +intronic UGCG chr9 114681242 114681242 C A het . 2 +intergenic UGCG(dist=32115),SUSD1(dist=73292) chr9 114729769 114729769 C T het . 3 +intronic SUSD1 chr9 114874916 114874916 A - het . 8 +UTR3 PTBP3(NM_001163790:c.*146A>T,NM_001163788:c.*146A>T,NM_005156:c.*146A>T,NM_001244898:c.*146A>T,NM_001244896:c.*146A>T) chr9 114985985 114985985 T A het . 8 +UTR3 PTBP3(NM_001163790:c.*109_*110insTTCT,NM_001163788:c.*109_*110insTTCT,NM_005156:c.*109_*110insTTCT,NM_001244898:c.*109_*110insTTCT,NM_001244896:c.*109_*110insTTCT) chr9 114986021 114986021 - AGAA het . 13 +intronic PTBP3 chr9 115092624 115092624 T A het . 4 +UTR5 HSDL2(NM_001195822:c.-114_-113insGGG,NM_032303:c.-114_-113insGGG) chr9 115142330 115142330 - GGG het . 2 +intronic HSDL2 chr9 115188194 115188194 A G het . 2 +intronic HSDL2 chr9 115190605 115190605 T C het . 2 +exonic C9orf147 chr9 115216223 115216226 ATTA - het . 5 +intronic C9orf147,HSDL2 chr9 115221630 115221630 A G het . 8 +intronic C9orf147 chr9 115240515 115240515 G A het . 2 +intergenic KIAA1958(dist=10931),INIP(dist=7706) chr9 115438522 115438523 CA TG het . 2 +intergenic KIAA1958(dist=11219),INIP(dist=7419) chr9 115438810 115438810 A - het . 2 +intronic SNX30 chr9 115608188 115608188 A G het . 2 +intergenic SLC46A2(dist=2644),ZNF883(dist=103563) chr9 115655837 115655837 C T het . 1 +intergenic SLC46A2(dist=67258),ZNF883(dist=38949) chr9 115720451 115720451 G A het . 2 +exonic ZNF883 chr9 115759612 115759612 G A het . 30 +intergenic FAM225A(dist=10573),SLC31A2(dist=20539) chr9 115892699 115892699 T C het . 3 +intronic SLC31A2 chr9 115920099 115920099 T C het . 9 +exonic SLC31A2 chr9 115923878 115923878 C A het . 9 +intronic SLC31A2 chr9 115924073 115924073 G A het . 6 +intronic FKBP15 chr9 115934022 115934022 - ACCTGGATT het . 10 +intronic FKBP15 chr9 115934127 115934127 T - het . 4 +intronic FKBP15 chr9 115952895 115952895 T C het . 11 +UTR5 FKBP15(NM_015258:c.-17C>T) chr9 115983540 115983540 G A het . 24 +intronic SLC31A1 chr9 115985608 115985608 A - het . 3 +intronic PRPF4 chr9 116038752 116038752 G A het . 11 +intergenic RGS3(dist=11593),ZNF618(dist=266946) chr9 116371616 116371616 T A het . 2 +intergenic RGS3(dist=18736),ZNF618(dist=259803) chr9 116378759 116378759 G A het . 1 +intergenic RGS3(dist=24043),ZNF618(dist=254496) chr9 116384066 116384066 G C het . 2 +intergenic RGS3(dist=46241),ZNF618(dist=232298) chr9 116406264 116406264 T A het . 1 +intergenic RGS3(dist=116276),ZNF618(dist=162263) chr9 116476299 116476299 A G het . 3 +intronic ZNF618 chr9 116769515 116769515 C T het . 5 +intronic ZNF618 chr9 116779080 116779080 C T het . 4 +intronic AMBP chr9 116822610 116822610 A G het . 2 +intronic AMBP chr9 116822620 116822620 G A het . 2 +exonic AMBP chr9 116823712 116823712 C T het . 9 +intronic COL27A1 chr9 116968449 116968449 C A het . 7 +intronic COL27A1 chr9 117008025 117008025 A G het . 3 +intronic COL27A1 chr9 117015798 117015802 AGAAC - het . 2 +intronic COL27A1 chr9 117028968 117028968 C T het . 4 +exonic COL27A1 chr9 117052546 117052546 C A het . 8 +exonic COL27A1 chr9 117072880 117072880 C A het . 18 +intronic ORM1 chr9 117085635 117085635 T C het . 10 +intronic AKNA chr9 117121840 117121840 A C het . 6 +intronic WHRN chr9 117187217 117187217 C A het . 16 +intronic WHRN chr9 117210041 117210044 TCTC - het . 2 +intronic WHRN chr9 117220219 117220219 T C het . 2 +intergenic ATP6V1G1(dist=11024),TMEM268(dist=1424) chr9 117372176 117372176 C T het . 4 +intronic TNC chr9 117806015 117806015 - AAAC het . 3 +intronic TNC chr9 117835848 117835848 C A het . 5 +intergenic DEC1(dist=103887),LOC101928775(dist=233139) chr9 118268810 118268810 C A het . 3 +intergenic DEC1(dist=141975),LOC101928775(dist=195051) chr9 118306898 118306898 A C het . 1 +intergenic DEC1(dist=151198),LOC101928775(dist=185828) chr9 118316121 118316121 - AG het . 2 +intergenic DEC1(dist=159460),LOC101928775(dist=177566) chr9 118324383 118324383 C T het . 1 +intergenic DEC1(dist=298809),LOC101928775(dist=38217) chr9 118463732 118463732 T C het . 1 +exonic PAPPA chr9 118950336 118950336 G A het . 19 +exonic PAPPA chr9 118950357 118950357 C A het . 23 +intronic PAPPA chr9 118989926 118989926 G C het . 1 +intronic ASTN2 chr9 119380808 119380808 A G het . 4 +intronic ASTN2 chr9 119415169 119415169 G T het . 2 +intronic ASTN2 chr9 119751612 119751612 C T het . 2 +intronic ASTN2 chr9 119809529 119809529 G T het . 1 +intronic ASTN2 chr9 119903807 119903807 A C het . 5 +exonic ASTN2 chr9 120053776 120053776 T C het . 4 +intergenic ASTN2(dist=153096),LOC101928797(dist=80453) chr9 120330431 120330431 C G het . 2 +intergenic LOC101928797(dist=16473),TLR4(dist=30676) chr9 120435777 120435777 T C het . 2 +intronic TLR4 chr9 120466930 120466930 A - het . 12 +intergenic TLR4(dist=56206),LINC02578(dist=905974) chr9 120535975 120535975 C T het . 1 +intergenic TLR4(dist=101473),LINC02578(dist=860707) chr9 120581242 120581242 A G het . 2 +intergenic TLR4(dist=108785),LINC02578(dist=853395) chr9 120588554 120588554 C T het . 1 +intergenic TLR4(dist=224589),LINC02578(dist=737591) chr9 120704358 120704358 T G het . 1 +intergenic TLR4(dist=249992),LINC02578(dist=712188) chr9 120729761 120729761 A C het . 2 +intergenic TLR4(dist=267805),LINC02578(dist=694375) chr9 120747574 120747574 C T het . 2 +intergenic TLR4(dist=811975),LINC02578(dist=150205) chr9 121291744 121291744 G A het . 1 +intergenic LINC02578(dist=9190),BRINP1(dist=412128) chr9 121516780 121516780 T - het . 2 +intergenic LINC02578(dist=15295),BRINP1(dist=406023) chr9 121522885 121522885 C T het . 2 +intergenic LINC02578(dist=297886),BRINP1(dist=123432) chr9 121805476 121805476 C G het . 2 +intronic BRINP1 chr9 121982895 121982895 C T het . 2 +intergenic BRINP1(dist=111860),LINC01613(dist=453739) chr9 122243599 122243599 C A het . 2 +intergenic BRINP1(dist=111862),LINC01613(dist=453737) chr9 122243601 122243601 C A het . 2 +intergenic BRINP1(dist=464376),LINC01613(dist=101223) chr9 122596115 122596115 T C het . 1 +intronic CDK5RAP2 chr9 123169718 123169718 C G het . 3 +intronic CDK5RAP2 chr9 123259698 123259698 T A het . 1 +intronic CDK5RAP2 chr9 123259733 123259733 G A het . 2 +exonic CDK5RAP2 chr9 123301414 123301414 C T het . 47 +intronic CDK5RAP2 chr9 123326990 123326990 T C het . 1 +intergenic CDK5RAP2(dist=5130),MEGF9(dist=15618) chr9 123347578 123347578 C A het . 1 +intronic MEGF9 chr9 123421546 123421546 A C het . 2 +intronic MEGF9 chr9 123421556 123421556 C T het . 2 +intronic C5 chr9 123725776 123725776 C T het . 23 +intronic C5 chr9 123725783 123725783 A - het . 17 +intronic C5 chr9 123751833 123751833 T - het . 29 +intronic C5 chr9 123785200 123785200 G A het . 4 +intronic CNTRL chr9 123876030 123876030 A - het . 4 +intronic CNTRL chr9 123880570 123880570 T C het . 8 +intronic CNTRL chr9 123931758 123931758 G C het . 3 +intronic CNTRL chr9 123933606 123933606 T C het . 23 +exonic CNTRL chr9 123935570 123935570 C A het . 27 +intronic CNTRL chr9 123939210 123939210 - T het . 7 +intronic RAB14 chr9 123945780 123945780 C A het . 21 +intronic GSN chr9 124062437 124062437 C A het . 18 +intergenic STOM(dist=61586),GGTA1P(dist=23151) chr9 124194168 124194168 C A het . 2 +ncRNA_intronic GGTA1P chr9 124225539 124225539 T G het . 17 +ncRNA_intronic GGTA1P chr9 124259035 124259035 - AGAG het . 2 +exonic LHX6 chr9 124976307 124976307 A C het . 24 +intronic MRRF chr9 125048044 125048044 - T het . 3 +exonic OR1L8 chr9 125330184 125330184 A C het . 9 +exonic OR1B1 chr9 125391012 125391012 G C het . 4 +exonic OR1B1 chr9 125391026 125391026 A C het . 4 +intronic RC3H2 chr9 125659520 125659520 T C het . 2 +intronic RABGAP1 chr9 125747038 125747038 G T het . 2 +UTR3 STRBP(NM_018387:c.*3156_*3155delTT,NM_001171137:c.*3156_*3155delTT) chr9 125884720 125884721 AA - het . 1 +intergenic STRBP(dist=49371),CRB2(dist=38220) chr9 126080226 126080226 C T het . 3 +intergenic STRBP(dist=60530),CRB2(dist=27058) chr9 126091385 126091388 AAAA - het . 2 +exonic CRB2 chr9 126133547 126133547 T C het . 2 +exonic CRB2 chr9 126134542 126134542 G A het . 8 +intronic DENND1A chr9 126146197 126146197 C G het . 2 +intronic DENND1A chr9 126202551 126202551 A C het . 3 +intronic DENND1A chr9 126217129 126217129 T - het . 7 +intronic DENND1A chr9 126217160 126217160 G A het . 11 +intronic DENND1A chr9 126414137 126414137 A - het . 4 +intronic LHX2 chr9 126783104 126783104 C T het . 2 +intergenic LHX2(dist=56960),NEK6(dist=167482) chr9 126852402 126852403 TC - het . 4 +intergenic LHX2(dist=56976),NEK6(dist=167467) chr9 126852418 126852418 C T het . 3 +intergenic LHX2(dist=71094),NEK6(dist=153348) chr9 126866536 126866537 TT - het . 2 +intergenic PSMB7(dist=56976),NR5A1(dist=8777) chr9 127234728 127234738 TTTGTTTGTTT - het . 3 +intergenic PSMB7(dist=57020),NR5A1(dist=8739) chr9 127234772 127234776 TTTTG - het . 4 +intergenic PSMB7(dist=58767),NR5A1(dist=6996) chr9 127236519 127236519 A T het . 3 +UTR3 NR5A1(NM_004959:c.*82C>T) chr9 127244955 127244955 G A het . 6 +intronic NR6A1 chr9 127361699 127361699 A - het . 6 +intergenic OLFML2A(dist=6555),WDR38(dist=31971) chr9 127583725 127583725 - TTG het . 2 +intergenic OLFML2A(dist=19108),WDR38(dist=19418) chr9 127596278 127596278 G T het . 1 +intergenic OLFML2A(dist=19121),WDR38(dist=19405) chr9 127596291 127596291 A G het . 2 +intronic GOLGA1 chr9 127651705 127651705 C T het . 14 +intronic GOLGA1 chr9 127684333 127684333 C T het . 5 +intronic GOLGA1 chr9 127701833 127701833 T C het . 6 +intergenic PPP6C(dist=4587),LOC105376271(dist=5007) chr9 127956805 127956805 C G het . 2 +intronic RABEPK chr9 127969785 127969785 G A het . 3 +intronic MAPKAP1 chr9 128358960 128358960 C G het . 2 +intronic MAPKAP1 chr9 128379186 128379186 A C het . 2 +intergenic LMX1B(dist=56619),ZBTB43(dist=47355) chr9 129519930 129519930 G A het . 4 +intronic ZBTB43 chr9 129583626 129583626 G C het . 5 +intronic RALGPS1 chr9 129765983 129765983 A T het . 1 +exonic ANGPTL2 chr9 129870363 129870363 T G het . 3 +exonic ANGPTL2 chr9 129870367 129870367 T G het . 3 +exonic ANGPTL2 chr9 129870372 129870372 G C het . 4 +intronic RALGPS1 chr9 129928600 129928600 A C het . 9 +intronic GARNL3 chr9 130149403 130149403 G A het . 1 +exonic SLC2A8 chr9 130164993 130164993 C T het . 4 +intergenic SLC2A8(dist=5295),ZNF79(dist=11188) chr9 130175465 130175465 - A het . 3 +intergenic SLC2A8(dist=5300),ZNF79(dist=11183) chr9 130175470 130175470 G A het . 3 +intronic ZNF79 chr9 130187866 130187866 T G het . 4 +intronic LRSAM1 chr9 130241374 130241374 - CA het . 16 +intronic LRSAM1 chr9 130243535 130243536 TT - het . 19 +intronic FAM129B chr9 130289615 130289615 C G het . 8 +exonic FAM102A chr9 130707081 130707081 A G het . 2 +intronic SLC25A25 chr9 130868312 130868312 G C het . 1 +exonic PTGES2 chr9 130883511 130883511 C T het . 6 +downstream PTGES2-AS1(dist=157) chr9 130893070 130893070 A C het . 1 +downstream PTGES2-AS1(dist=161) chr9 130893074 130893074 T C het . 1 +downstream PTGES2-AS1(dist=164) chr9 130893077 130893077 C T het . 1 +intergenic PTGES2-AS1(dist=3837),LCN2(dist=14959) chr9 130896750 130896750 A T het . 2 +intergenic PTGES2-AS1(dist=3847),LCN2(dist=14949) chr9 130896760 130896760 C T het . 3 +intergenic PTGES2-AS1(dist=3865),LCN2(dist=14931) chr9 130896778 130896778 G T het . 3 +intergenic PTGES2-AS1(dist=3900),LCN2(dist=14896) chr9 130896813 130896813 G A het . 3 +intergenic PTGES2-AS1(dist=5600),LCN2(dist=13196) chr9 130898513 130898513 C A het . 2 +intergenic PTGES2-AS1(dist=5603),LCN2(dist=13193) chr9 130898516 130898516 T C het . 2 +intergenic PTGES2-AS1(dist=5617),LCN2(dist=13178) chr9 130898530 130898531 GA AC het . 3 +intronic CIZ1 chr9 130932397 130932398 AC - het . 4 +intronic DNM1 chr9 130982416 130982416 C T het . 2 +ncRNA_intronic MIR1268A chr9 131130891 131130891 A - het . 2 +ncRNA_intronic MIR1268A chr9 131250085 131250085 C - het . 2 +ncRNA_intronic MIR1268A chr9 131250087 131250087 C - het . 2 +exonic ODF2 chr9 131256798 131256798 C A het . 5 +ncRNA_intronic MIR1268A chr9 131329591 131329591 G A het . 1 +exonic SPTAN1 chr9 131345015 131345015 C A het . 30 +ncRNA_intronic MIR1268A chr9 131388643 131388643 C T het . 14 +exonic WDR34 chr9 131397479 131397479 G A het . 10 +UTR5 SET(NM_001122821:c.-65G>C) chr9 131446110 131446110 G C het . 3 +intronic SET chr9 131453386 131453386 A T het . 21 +intronic ZER1 chr9 131502440 131502440 G C het . 3 +intronic ZER1 chr9 131502460 131502460 G T het . 2 +exonic TBC1D13 chr9 131559486 131559486 T G het . 7 +exonic SPOUT1 chr9 131585069 131585069 A G het . 10 +intronic KYAT1 chr9 131598513 131598513 - TTCC het . 2 +intronic KYAT1 chr9 131602897 131602897 - T het . 10 +intronic NUP188 chr9 131726683 131726683 C G het . 2 +exonic NUP188 chr9 131767731 131767731 C A het . 11 +intronic MIGA2 chr9 131831296 131831296 C A het . 9 +downstream DOLPP1(dist=907) chr9 131853624 131853624 C T het . 3 +UTR3 CRAT(NM_004003:c.*46G>A,NM_001257363:c.*46G>A,NM_001346549:c.*46G>A,NM_001346548:c.*46G>A,NM_001346547:c.*46G>A,NM_001346546:c.*46G>A,NM_000755:c.*46G>A) chr9 131857630 131857630 C T het . 2 +intronic PTPA chr9 131877922 131877922 T - het . 2 +intergenic IER5L(dist=15078),LOC101929331(dist=89077) chr9 131955618 131955618 A G het . 3 +intergenic LINC01503(dist=49096),LINC00963(dist=92087) chr9 132158852 132158852 G A het . 2 +intergenic LINC01503(dist=77862),LINC00963(dist=63321) chr9 132187618 132187618 T C het . 1 +intergenic LINC01503(dist=77870),LINC00963(dist=63313) chr9 132187626 132187626 A G het . 1 +intergenic LINC01503(dist=77882),LINC00963(dist=63300) chr9 132187638 132187639 CC AT het . 1 +intergenic LINC01503(dist=82070),LINC00963(dist=59113) chr9 132191826 132191826 T G het . 1 +intergenic LINC01503(dist=82104),LINC00963(dist=59079) chr9 132191860 132191860 G A het . 1 +intergenic LINC01503(dist=82108),LINC00963(dist=59075) chr9 132191864 132191864 G A het . 1 +intergenic LINC01503(dist=82112),LINC00963(dist=59071) chr9 132191868 132191868 T C het . 1 +intergenic LINC01503(dist=82116),LINC00963(dist=59067) chr9 132191872 132191872 C T het . 1 +ncRNA_exonic LINC00963 chr9 132264869 132264869 T - het . 2 +exonic USP20 chr9 132636920 132636920 C T het . 9 +exonic FNBP1 chr9 132662722 132662722 G A het . 2 +intronic FNBP1 chr9 132671359 132671359 - G het . 13 +intronic FNBP1 chr9 132746310 132746310 T C het . 1 +intronic FNBP1 chr9 132747145 132747145 T C het . 3 +intronic GPR107 chr9 132887250 132887250 A - het . 5 +ncRNA_exonic GPRACR chr9 132904115 132904115 G A het . 3 +intronic NCS1 chr9 132947172 132947172 G T het . 2 +intergenic ASS1(dist=16215),LOC100272217(dist=59861) chr9 133392876 133392876 C A het . 1 +intergenic ASS1(dist=16239),LOC100272217(dist=59837) chr9 133392900 133392900 T C het . 2 +exonic FUBP3 chr9 133470950 133470950 A G het . 7 +intronic ABL1 chr9 133711138 133711138 - TTTCTC het . 2 +intronic LAMC3 chr9 133918108 133918108 G A het . 1 +intronic LAMC3 chr9 133936319 133936319 A C het . 7 +intronic LAMC3 chr9 133936334 133936334 G A het . 8 +intronic LAMC3 chr9 133962276 133962276 - A het . 2 +intronic LAMC3 chr9 133963217 133963217 T C het . 29 +intronic LAMC3 chr9 133963235 133963235 C T het . 23 +intronic AIF1L chr9 133994264 133994264 C A het . 2 +intronic NUP214 chr9 134056631 134056631 T C het . 2 +exonic NUP214 chr9 134090724 134090724 C A het . 9 +exonic NUP214 chr9 134090731 134090731 G T het . 10 +intronic FAM78A chr9 134141540 134141540 A G het . 2 +intergenic FAM78A(dist=7133),PLPP7(dist=6042) chr9 134159039 134159039 - A het . 2 +intergenic PLPP7(dist=12166),PRRC2B(dist=108662) chr9 134196815 134196815 A - het . 3 +intergenic PLPP7(dist=57126),PRRC2B(dist=63702) chr9 134241775 134241775 G A het . 2 +intergenic PLPP7(dist=87068),PRRC2B(dist=33760) chr9 134271717 134271717 T C het . 2 +exonic PRRC2B chr9 134312018 134312018 C T het . 13 +intronic POMT1 chr9 134382673 134382673 C T het . 3 +intronic POMT1 chr9 134384500 134384500 C T het . 17 +intronic POMT1 chr9 134384513 134384513 A G het . 19 +exonic POMT1 chr9 134393924 134393924 G A het . 18 +intronic POMT1 chr9 134397624 134397624 C T het . 7 +intronic RAPGEF1 chr9 134505540 134505540 A C het . 3 +intronic RAPGEF1 chr9 134505545 134505545 A C het . 3 +intronic RAPGEF1 chr9 134612965 134612965 C A het . 4 +intergenic RAPGEF1(dist=27165),MED27(dist=93001) chr9 134642496 134642496 C A het . 1 +intronic MED27 chr9 134949156 134949156 A - het . 20 +intronic NTNG2 chr9 135100616 135100616 C T het . 2 +intronic SETX chr9 135150552 135150552 C A het . 17 +intronic SETX chr9 135152544 135152544 A - het . 33 +intronic SETX chr9 135153668 135153668 C T het . 14 +intronic SETX chr9 135161767 135161767 A - het . 19 +intronic SETX chr9 135173454 135173454 - A het . 18 +exonic SETX chr9 135202788 135202788 T C het . 38 +exonic SETX chr9 135221682 135221682 C A het . 40 +intronic CFAP77 chr9 135334459 135334459 A T het . 1 +intronic CFAP77 chr9 135418469 135418469 C A het . 6 +exonic DDX31 chr9 135523676 135523676 C A het . 15 +intronic DDX31 chr9 135523693 135523693 A - het . 11 +intronic GTF3C4 chr9 135562800 135562800 G A het . 5 +intronic AK8 chr9 135690205 135690205 - A het . 6 +exonic AK8 chr9 135702416 135702416 C A het . 17 +intergenic GFI1B(dist=14109),SNORD141B(dist=14624) chr9 135881193 135881193 A G het . 1 +intronic GTF3C5 chr9 135930675 135930675 C G het . 12 +intronic CEL chr9 135946051 135946052 AC GT het . 19 +ncRNA_exonic CELP chr9 135961809 135961809 T C het . 2 +ncRNA_exonic CELP chr9 135961814 135961814 C T het . 2 +ncRNA_intronic CELP chr9 135961850 135961851 AC GT het . 6 +ncRNA_exonic CELP chr9 135962399 135962399 G A het . 10 +ncRNA_exonic CELP chr9 135962407 135962407 C T het . 8 +intergenic CELP(dist=4296),RALGDS(dist=6333) chr9 135966774 135966774 C T het . 2 +intergenic CELP(dist=5608),RALGDS(dist=5021) chr9 135968086 135968086 T C het . 1 +intergenic CELP(dist=6033),RALGDS(dist=4596) chr9 135968511 135968511 - TG het . 3 +intronic RALGDS chr9 135984976 135984976 G A het . 20 +UTR5 GBGT1(NM_001288573:c.-8246A>G,NM_001288572:c.-6397A>G,NM_001282629:c.-46A>G,NM_001282632:c.-46A>G,NM_021996:c.-46A>G) chr9 136037845 136037845 T C het . 4 +exonic OBP2B chr9 136083580 136083580 T G het . 6 +exonic ABO chr9 136131289 136131289 C T het . 15 +intronic ABO chr9 136131783 136131783 C T het . 4 +intronic ABO chr9 136131785 136131785 T C het . 4 +intronic ABO chr9 136133381 136133383 GGG - het . 3 +intronic ABO chr9 136135195 136135195 G C het . 16 +exonic ABO chr9 136135237 136135238 AT GC het . 22 +intergenic SURF6(dist=2691),MED22(dist=2013) chr9 136205738 136205738 T C het . 16 +intergenic SURF6(dist=2728),MED22(dist=1976) chr9 136205775 136205775 T C het . 17 +intronic MED22 chr9 136213382 136213382 A C het . 4 +intronic MED22 chr9 136213387 136213387 A C het . 5 +splicing MED22(NM_133640:exon2:c.123+2T>G,NM_181491:exon2:c.123+2T>G) chr9 136213393 136213393 A C het . 4 +intronic SURF4 chr9 136234124 136234124 A G het . 4 +intronic STKLD1 chr9 136260696 136260696 G C het . 7 +intronic ADAMTS13 chr9 136303253 136303253 T C het . 8 +UTR5 CACFD1(NM_017586:c.-29G>A,NM_001242370:c.-29G>A,NM_001242369:c.-29G>A,NM_001135775:c.-29G>A) chr9 136325160 136325160 G A het . 5 +intronic ADAMTSL2 chr9 136412041 136412041 C T het . 11 +intronic SARDH chr9 136561303 136561303 A T het . 8 +intronic SARDH chr9 136577935 136577935 T - het . 5 +exonic SARDH chr9 136599146 136599146 C T het . 7 +intronic VAV2 chr9 136637198 136637198 C T het . 7 +intronic VAV2 chr9 136641235 136641235 C T het . 3 +intronic VAV2 chr9 136651126 136651131 GTGCCT - het . 4 +intronic VAV2 chr9 136790742 136790742 C T het . 2 +exonic BRD3 chr9 136905293 136905295 CTT - het . 46 +exonic BRD3 chr9 136905352 136905352 C A het . 29 +exonic BRD3 chr9 136918537 136918537 T G het . 2 +exonic BRD3 chr9 136918542 136918542 T C het . 2 +exonic BRD3 chr9 136918546 136918546 A C het . 2 +intergenic BRD3(dist=29948),WDR5(dist=38121) chr9 136963089 136963089 C T het . 2 +intronic WDR5 chr9 137017090 137017090 C T het . 8 +exonic RXRA chr9 137309155 137309155 G A het . 6 +intergenic RXRA(dist=176012),COL5A1(dist=25207) chr9 137508444 137508444 T G het . 2 +intronic COL5A1 chr9 137626885 137626885 T C het . 2 +intronic COL5A1 chr9 137678038 137678038 T C het . 3 +intronic COL5A1 chr9 137688781 137688800 CCTGTCCCCTCCAAAACCCA - het . 7 +intronic COL5A1 chr9 137708803 137708803 A G het . 11 +intronic COL5A1 chr9 137709517 137709517 T C het . 3 +intronic COL5A1 chr9 137709780 137709780 T C het . 3 +intronic COL5A1 chr9 137709795 137709795 C T het . 3 +intronic COL5A1 chr9 137710961 137710961 G A het . 8 +ncRNA_intronic LOC101448202 chr9 137714027 137714027 T C het . 7 +upstream FCN2(dist=16) chr9 137772642 137772642 A C het . 11 +intronic OLFM1 chr9 137978360 137978360 C T het . 4 +intergenic LOC401557(dist=57416),C9orf62(dist=98527) chr9 138136568 138136568 C A het . 1 +intronic PPP1R26 chr9 138374822 138374825 TTTC - het . 2 +intronic C9orf116 chr9 138387483 138387483 G A het . 3 +intronic C9orf116 chr9 138391299 138391299 T A het . 7 +intronic LCN1 chr9 138416939 138416939 C A het . 4 +intronic OBP2A chr9 138439377 138439377 G A het . 8 +exonic OBP2A chr9 138440554 138440554 G C het . 6 +exonic OBP2A chr9 138440562 138440562 C T het . 6 +exonic OBP2A chr9 138440624 138440624 G C het . 4 +intronic PAEP chr9 138453811 138453811 A G het . 4 +intronic GLT6D1 chr9 138518177 138518177 C T het . 2 +intronic SOHLH1 chr9 138586854 138586854 C T het . 4 +intronic SOHLH1 chr9 138587203 138587203 A G het . 4 +intronic SOHLH1 chr9 138587220 138587220 T C het . 4 +intronic SOHLH1 chr9 138590632 138590632 G A het . 1 +exonic SOHLH1 chr9 138590928 138590928 C T het . 11 +intronic KCNT1 chr9 138664851 138664851 G A het . 2 +intronic KCNT1 chr9 138679911 138679911 C G het . 15 +intronic UBAC1 chr9 138851532 138851532 T A het . 2 +UTR5 UBAC1(NM_016172:c.-2_-4delCGG) chr9 138853010 138853012 CCG - het . 10 +intronic NACC2 chr9 138962515 138962515 A - het . 3 +intronic LHX3 chr9 139090465 139090465 - C het . 2 +intronic LHX3 chr9 139091794 139091794 G A het . 15 +intronic LHX3 chr9 139091797 139091797 A C het . 16 +exonic QSOX2 chr9 139110935 139110935 C T het . 18 +exonic CARD9 chr9 139266496 139266496 C T het . 19 +intronic SNAPC4 chr9 139273790 139273790 C A het . 8 +intronic SNAPC4 chr9 139275164 139275164 C A het . 6 +intronic SNAPC4 chr9 139279304 139279304 C A het . 15 +intronic SNAPC4 chr9 139279310 139279310 C T het . 15 +intronic ENTR1 chr9 139302094 139302094 C G het . 9 +intronic INPP5E chr9 139327599 139327599 G A het . 28 +intronic INPP5E chr9 139333050 139333053 CCCT - het . 30 +exonic SEC16A chr9 139370217 139370217 G A het . 34 +exonic SEC16A chr9 139371888 139371889 CT GG het . 25 +UTR3 NOTCH1(NM_017617:c.*126G>A) chr9 139390397 139390397 C T het . 3 +exonic NOTCH1 chr9 139399828 139399828 C A het . 16 +exonic NOTCH1 chr9 139407932 139407932 A G het . 24 +intronic NOTCH1 chr9 139411714 139411714 T C het . 4 +intronic NOTCH1 chr9 139412073 139412073 T C het . 3 +intergenic LINC01451(dist=24883),HSPC324(dist=6546) chr9 139536516 139536516 - T het . 2 +intronic EGFL7 chr9 139565778 139565778 A G het . 3 +ncRNA_exonic SNHG7 chr9 139620989 139620990 GT - het . 2 +ncRNA_exonic SNHG7 chr9 139620992 139620994 CCT - het . 2 +ncRNA_exonic SNHG7 chr9 139620999 139620999 T A het . 2 +intronic LCN8 chr9 139651163 139651163 - G het . 2 +upstream LCN8(dist=60) chr9 139653055 139653055 C T het . 2 +exonic CCDC183 chr9 139700605 139700605 T C het . 27 +exonic C8G chr9 139840543 139840543 A G het . 5 +intronic ABCA2 chr9 139906686 139906686 G A het . 3 +intronic ENTPD2 chr9 139946804 139946804 C G het . 3 +exonic SAPCD2 chr9 139959178 139959178 T C het . 22 +intronic SAPCD2 chr9 139959292 139959292 C G het . 8 +intronic UAP1L1 chr9 139973629 139973629 A C het . 4 +intronic UAP1L1 chr9 139973652 139973652 A G het . 3 +UTR3 UAP1L1(NM_207309:c.*14T>C) chr9 139977195 139977195 T C het . 4 +intronic MAN1B1 chr9 139985966 139985966 G T het . 4 +intronic MAN1B1 chr9 139996739 139996739 - CG het . 8 +intronic MAN1B1 chr9 139996749 139996749 G A het . 9 +intronic MAN1B1 chr9 139996933 139996933 T G het . 11 +intronic MAN1B1 chr9 139998026 139998026 C G het . 15 +intronic MAN1B1 chr9 139998089 139998089 C T het . 9 +intronic MAN1B1 chr9 139998480 139998480 G A het . 19 +exonic DPP7 chr9 140008750 140008750 G C het . 17 +intergenic DPP7(dist=4252),GRIN1(dist=20162) chr9 140013447 140013447 C - het . 3 +intronic GRIN1 chr9 140055876 140055876 G A het . 9 +intronic NDOR1 chr9 140110274 140110274 T C het . 5 +exonic RNF224 chr9 140123386 140123386 C A het . 28 +exonic TUBB4B chr9 140137681 140137681 C T het . 27 +intergenic FAM166A(dist=1225),STPG3-AS1(dist=1202) chr9 140143469 140143469 - T het . 2 +intergenic FAM166A(dist=1226),STPG3-AS1(dist=1201) chr9 140143470 140143470 G T het . 2 +exonic PNPLA7 chr9 140400193 140400193 A G het . 13 +exonic ARRDC1 chr9 140509542 140509542 T C het . 3 +exonic EHMT1 chr9 140611472 140611472 C T het . 4 +intronic EHMT1 chr9 140637805 140637806 TT - het . 21 +intronic EHMT1 chr9 140686493 140686493 T - het . 20 +intronic CACNA1B chr9 140866396 140866396 T C het . 2 +intergenic TUBB8(dist=35138),ZMYND11(dist=50088) chr10 130316 130317 GT - het . 4 +intronic ZMYND11 chr10 251956 251956 - G het . 1 +intronic ZMYND11 chr10 256614 256614 G T het . 2 +intronic ZMYND11 chr10 287811 287811 A G het . 6 +intronic ZMYND11 chr10 288184 288184 - AA het . 6 +exonic DIP2C chr10 329250 329250 C A het . 6 +intronic DIP2C chr10 333261 333261 G A het . 2 +intronic DIP2C chr10 375571 375586 GGAGCTCAGCAAGGCT - het . 2 +intronic DIP2C chr10 388105 388105 T C het . 1 +intronic DIP2C chr10 410603 410603 C A het . 5 +intronic DIP2C chr10 428503 428503 A G het . 4 +exonic DIP2C chr10 518436 518436 C T het . 15 +intronic DIP2C chr10 523635 523635 A G het . 2 +intronic DIP2C chr10 711918 711918 A G het . 2 +intergenic DIP2C(dist=14341),LARP4B(dist=102905) chr10 749949 749949 T G het . 1 +intronic LARP4B chr10 870435 870438 AAAC - het . 11 +UTR5 GTPBP4(NM_012341:c.-8C>T) chr10 1034412 1034412 C T het . 19 +intronic GTPBP4 chr10 1038340 1038340 A - het . 3 +intronic GTPBP4 chr10 1056252 1056252 C T het . 5 +exonic IDI2 chr10 1070638 1070638 A T het . 17 +intronic IDI1 chr10 1093992 1093992 A G het . 3 +intronic ADARB2 chr10 1254765 1254765 G A het . 1 +intronic ADARB2 chr10 1254785 1254785 A G het . 2 +intronic ADARB2 chr10 1393181 1393181 G A het . 2 +intronic ADARB2 chr10 1393200 1393200 A C het . 2 +intronic ADARB2 chr10 1413844 1413844 C T het . 1 +intronic ADARB2 chr10 1461446 1461446 G A het . 2 +intronic ADARB2 chr10 1673152 1673155 AAAC - het . 3 +intronic ADARB2 chr10 1728445 1728445 G T het . 2 +intronic ADARB2 chr10 1736305 1736305 T G het . 2 +intronic ADARB2 chr10 1754624 1754624 C G het . 2 +intergenic LOC105376351(dist=35541),PFKP(dist=530517) chr10 2579195 2579195 C T het . 3 +intergenic LOC105376351(dist=242732),PFKP(dist=323326) chr10 2786386 2786386 C A het . 1 +intergenic LOC105376351(dist=489187),PFKP(dist=76871) chr10 3032841 3032841 G A het . 2 +intronic PFKP chr10 3109907 3109907 C - het . 5 +exonic PFKP chr10 3143643 3143643 A C het . 4 +downstream PFKP,PITRM1(dist=216) chr10 3179703 3179703 C T het . 14 +downstream PFKP,PITRM1(dist=211) chr10 3179708 3179708 A G het . 15 +exonic PITRM1 chr10 3202065 3202065 T C het . 20 +intergenic PITRM1(dist=75518),LOC105376360(dist=70335) chr10 3290551 3290552 AA - het . 2 +ncRNA_intronic LOC105376360 chr10 3406037 3406037 T C het . 2 +ncRNA_intronic LOC105376360 chr10 3580353 3580353 C A het . 1 +ncRNA_intronic LOC105376360 chr10 3580374 3580374 G A het . 2 +ncRNA_intronic LOC105376360 chr10 3714992 3714992 C T het . 4 +ncRNA_intronic LOC105376360 chr10 3724752 3724752 T C het . 1 +UTR3 KLF6(NM_001300:c.*2606_*2605delAA,NM_001160125:c.*2620_*2619delAA,NM_001160124:c.*2606_*2605delAA) chr10 3819125 3819126 TT - het . 15 +UTR3 KLF6(NM_001300:c.*2409_*2410insT,NM_001160125:c.*2423_*2424insT,NM_001160124:c.*2409_*2410insT) chr10 3819321 3819321 - A het . 33 +intergenic LOC105376365(dist=36468),MIR6078(dist=119963) chr10 3913388 3913389 TG - het . 2 +intergenic MIR6078(dist=7164),LOC101927964(dist=53303) chr10 4040615 4040615 A G het . 2 +ncRNA_intronic LINC00702 chr10 4266338 4266338 C G het . 2 +intergenic LINC00703(dist=45882),MANCR(dist=193691) chr10 4498686 4498686 C G het . 2 +intergenic LINC00703(dist=78868),MANCR(dist=160705) chr10 4531672 4531672 - TTG het . 3 +intergenic LINC00703(dist=83314),MANCR(dist=156259) chr10 4536118 4536118 C T het . 2 +intergenic LINC00703(dist=83324),MANCR(dist=156249) chr10 4536128 4536128 T C het . 2 +intergenic MANCR(dist=39698),AKR1E2(dist=108409) chr10 4759960 4759960 C T het . 2 +intergenic MANCR(dist=75827),AKR1E2(dist=72279) chr10 4796089 4796090 TT - het . 4 +intronic AKR1E2 chr10 4877814 4877814 - TTTTG het . 6 +intronic AKR1C3 chr10 5091201 5091201 G A het . 2 +intronic AKR1C3 chr10 5094294 5094294 A G het . 2 +exonic AKR1C3 chr10 5139685 5139685 G A het . 20 +intergenic AKR1C3(dist=14387),AKR1C8P(dist=32390) chr10 5164265 5164265 - GCAA het . 11 +intergenic AKR1C3(dist=14391),AKR1C8P(dist=32386) chr10 5164269 5164269 T A het . 12 +intergenic AKR1C3(dist=14398),AKR1C8P(dist=32379) chr10 5164276 5164276 A C het . 11 +intergenic AKR1C3(dist=21483),AKR1C8P(dist=25294) chr10 5171361 5171361 T C het . 2 +ncRNA_intronic AKR1C8P chr10 5200739 5200739 - AGG het . 5 +intronic AKR1C4 chr10 5249377 5249377 A T het . 3 +intronic AKR1C4 chr10 5249428 5249428 C A het . 9 +intronic AKR1C4 chr10 5254428 5254428 T C het . 3 +intronic AKR1C4 chr10 5254452 5254452 A C het . 4 +intronic AKR1C4 chr10 5257932 5257932 T C het . 1 +intronic AKR1C4 chr10 5259886 5259886 G T het . 1 +intronic AKR1C4 chr10 5259889 5259889 G T het . 1 +intergenic LINC02561(dist=11672),UCN3(dist=82101) chr10 5324871 5324871 G A het . 8 +intergenic LINC02561(dist=11677),UCN3(dist=82096) chr10 5324876 5324876 A T het . 7 +intergenic LINC02561(dist=11685),UCN3(dist=82088) chr10 5324884 5324884 G A het . 4 +intergenic LINC02561(dist=52995),UCN3(dist=40778) chr10 5366194 5366194 A G het . 2 +intronic UCN3 chr10 5409940 5409940 T A het . 2 +exonic TUBAL3 chr10 5442904 5442904 C A het . 28 +intronic NET1 chr10 5460598 5460598 G A het . 2 +intronic NET1 chr10 5498248 5498248 G T het . 6 +intergenic NET1(dist=2591),CALML5(dist=37048) chr10 5503610 5503610 C A het . 1 +intronic ASB13 chr10 5684534 5684534 - A het . 13 +intronic ASB13 chr10 5684553 5684553 A T het . 13 +intronic FAM208B chr10 5734396 5734396 C A het . 2 +exonic FAM208B chr10 5782124 5782124 C A het . 18 +intronic FAM208B chr10 5804366 5804366 A C het . 3 +intronic FAM208B chr10 5804388 5804388 T C het . 8 +intronic FAM208B chr10 5804702 5804704 TGT - het . 10 +intronic GDI2 chr10 5827330 5827332 TCT - het . 9 +intronic GDI2 chr10 5828049 5828049 C A het . 22 +intronic GDI2 chr10 5853767 5853767 T C het . 11 +intronic GDI2 chr10 5853817 5853817 G C het . 14 +intronic ANKRD16 chr10 5911039 5911039 - T het . 3 +intronic ANKRD16 chr10 5922186 5922186 T A het . 2 +intronic ANKRD16 chr10 5924942 5924942 C G het . 3 +intergenic IL15RA(dist=21219),IL2RA(dist=10734) chr10 6041923 6041923 T C het . 3 +intronic IL2RA chr10 6085995 6085995 A C het . 1 +intronic IL2RA chr10 6094853 6094853 C - het . 2 +intergenic IL2RA(dist=22288),RBM17(dist=4328) chr10 6126621 6126621 A G het . 1 +upstream RBM17(dist=827) chr10 6130122 6130122 - A het . 2 +intronic RBM17 chr10 6150829 6150835 CTCTGTC - het . 3 +intronic RBM17 chr10 6150837 6150837 C T het . 3 +intronic RBM17 chr10 6150843 6150845 GCC AAT het . 3 +intronic RBM17 chr10 6150849 6150852 CCTG - het . 3 +intronic PFKFB3 chr10 6258841 6258841 C - het . 5 +intronic PFKFB3 chr10 6258937 6258937 A G het . 2 +intronic PFKFB3 chr10 6259239 6259239 G A het . 5 +intronic PFKFB3 chr10 6259285 6259285 G A het . 2 +intronic PFKFB3 chr10 6270977 6270977 A C het . 3 +intronic PFKFB3 chr10 6271036 6271036 G C het . 8 +intronic PFKFB3 chr10 6273170 6273170 - T het . 5 +intronic PFKFB3 chr10 6277661 6277661 G T het . 3 +intergenic LOC399715(dist=10218),LOC399716(dist=4117) chr10 6388161 6388161 - A het . 2 +intergenic LOC399715(dist=11971),LOC399716(dist=2364) chr10 6389914 6389914 A C het . 2 +intronic PRKCQ chr10 6446349 6446353 TTTCT - het . 2 +intronic PRKCQ chr10 6483396 6483396 A G het . 2 +intergenic LINC00707(dist=167056),SFMBT2(dist=148662) chr10 7051924 7051924 - CA het . 2 +intergenic LINC00707(dist=266707),SFMBT2(dist=49011) chr10 7151575 7151575 A C het . 2 +intronic SFMBT2 chr10 7249347 7249347 A G het . 2 +intronic SFMBT2 chr10 7423960 7423960 T C het . 7 +intronic SFMBT2 chr10 7423984 7423984 G T het . 4 +intronic ITIH5 chr10 7646554 7646554 G A het . 2 +intronic KIN chr10 7798735 7798735 - A het . 2 +intronic KIN chr10 7800898 7800898 A - het . 3 +intronic KIN chr10 7816627 7816627 A - het . 7 +intronic ATP5F1C chr10 7837905 7837905 T C het . 4 +intronic TAF3 chr10 7939834 7939834 G A het . 2 +intergenic TAF3(dist=6302),GATA3-AS1(dist=29095) chr10 8063318 8063318 A G het . 3 +exonic GATA3 chr10 8100599 8100599 C T het . 34 +intronic GATA3 chr10 8115669 8115670 AA - het . 11 +intergenic GATA3(dist=5274),LINC00708(dist=178854) chr10 8122438 8122441 TACA - het . 3 +intergenic GATA3(dist=9456),LINC00708(dist=174675) chr10 8126620 8126620 C T het . 3 +intergenic LINC00708(dist=35509),LOC105376398(dist=268933) chr10 8345777 8345777 - TCTTCC het . 3 +intergenic LINC00708(dist=114096),LOC105376398(dist=190346) chr10 8424364 8424364 G A het . 3 +intergenic LOC105376398(dist=10102),LOC105755953(dist=293496) chr10 8646456 8646456 - T het . 2 +intergenic LOC105376398(dist=25657),LOC105755953(dist=277941) chr10 8662011 8662011 G C het . 25 +intergenic LOC105376398(dist=25688),LOC105755953(dist=277910) chr10 8662042 8662042 G T het . 26 +intergenic LOC105376398(dist=86993),LOC105755953(dist=216604) chr10 8723347 8723348 TC - het . 3 +intergenic LOC105376398(dist=252216),LOC105755953(dist=51382) chr10 8888570 8888570 G A het . 1 +intergenic LOC105376398(dist=266530),LOC105755953(dist=37068) chr10 8902884 8902884 C T het . 2 +ncRNA_intronic LOC105755953 chr10 8952719 8952719 G T het . 1 +intergenic LOC105755953(dist=43701),LOC101928272(dist=239069) chr10 9000260 9000260 A - het . 3 +intergenic LOC105755953(dist=74916),LOC101928272(dist=207854) chr10 9031475 9031475 C T het . 2 +intergenic LOC105755953(dist=118838),LOC101928272(dist=163932) chr10 9075397 9075397 C T het . 2 +intergenic LOC101928272(dist=25429),LOC101928298(dist=737697) chr10 9362985 9362988 TCTT - het . 3 +intergenic LOC101928272(dist=83717),LOC101928298(dist=679412) chr10 9421273 9421273 C T het . 2 +intergenic LOC101928272(dist=434844),LOC101928298(dist=328285) chr10 9772400 9772400 C A het . 2 +intergenic LOC101928272(dist=434880),LOC101928298(dist=328249) chr10 9772436 9772436 T C het . 2 +intergenic LOC101928272(dist=626300),LOC101928298(dist=136829) chr10 9963856 9963856 G A het . 1 +intergenic LOC101928272(dist=757281),LOC101928298(dist=5848) chr10 10094837 10094837 G A het . 1 +intergenic LOC101928298(dist=74487),LOC101928322(dist=281548) chr10 10179952 10179953 AA - het . 2 +intergenic LOC101928298(dist=88913),LOC101928322(dist=267123) chr10 10194378 10194378 C T het . 2 +intergenic LOC101928298(dist=178188),LOC101928322(dist=177848) chr10 10283653 10283653 T A het . 2 +intergenic LOC101928298(dist=192203),LOC101928322(dist=163833) chr10 10297668 10297668 G T het . 2 +intergenic LOC101928298(dist=233230),LOC101928322(dist=122806) chr10 10338695 10338695 T C het . 2 +intergenic LOC101928298(dist=279390),LOC101928322(dist=76646) chr10 10384855 10384855 A G het . 2 +ncRNA_intronic LOC101928322 chr10 10465147 10465147 T - het . 3 +intronic CELF2 chr10 10554325 10554325 C T het . 4 +intronic CELF2 chr10 10554363 10554363 G A het . 4 +intronic CELF2 chr10 11232115 11232115 A T het . 2 +ncRNA_intronic CELF2-AS1 chr10 11362790 11362792 TTT - het . 10 +intergenic CELF2-AS1(dist=1948),USP6NL(dist=113888) chr10 11388621 11388621 T C het . 2 +intergenic CELF2-AS1(dist=31741),USP6NL(dist=84095) chr10 11418414 11418414 C T het . 1 +exonic USP6NL chr10 11504750 11504750 G T het . 30 +intronic USP6NL chr10 11527093 11527093 C A het . 16 +exonic USP6NL chr10 11543172 11543172 C A het . 23 +intergenic USP6NL(dist=86296),ECHDC3(dist=44272) chr10 11740084 11740084 T C het . 2 +intergenic ECHDC3(dist=32604),PROSER2(dist=26728) chr10 11838669 11838669 T C het . 2 +intronic UPF2 chr10 11998145 11998145 - A het . 3 +intronic UPF2 chr10 12046455 12046455 T A het . 20 +intronic UPF2 chr10 12068542 12068542 C T het . 16 +intronic UPF2 chr10 12068543 12068543 C A het . 16 +exonic DHTKD1 chr10 12111090 12111090 T C het . 21 +exonic DHTKD1 chr10 12136131 12136131 C T het . 19 +exonic DHTKD1 chr10 12148259 12148259 A C het . 13 +exonic DHTKD1 chr10 12148286 12148286 T C het . 20 +intronic SEC61A2 chr10 12203197 12203197 C G het . 1 +intronic NUDT5 chr10 12215871 12215872 TT - het . 8 +intronic NUDT5 chr10 12233424 12233424 - ACC het . 2 +intronic CDC123 chr10 12252193 12252193 C A het . 6 +intronic CDC123 chr10 12252217 12252217 G A het . 4 +intergenic CDC123(dist=85714),CAMK1D(dist=13239) chr10 12378303 12378303 A - het . 2 +intronic CAMK1D chr10 12546743 12546743 T C het . 2 +intronic CAMK1D chr10 12593661 12593661 T C het . 2 +intronic CAMK1D chr10 12678430 12678430 G A het . 3 +intronic CAMK1D chr10 12720684 12720684 C T het . 2 +intronic CAMK1D chr10 12744502 12744502 A G het . 2 +intronic CAMK1D chr10 12744513 12744513 A T het . 2 +intronic CAMK1D chr10 12785345 12785345 - A het . 2 +intronic CCDC3 chr10 12959183 12959183 T C het . 3 +intronic CCDC3 chr10 13101304 13101304 C A het . 1 +intronic CCDC3 chr10 13133860 13133860 - C het . 1 +intergenic OPTN(dist=20160),MCM10(dist=3116) chr10 13200436 13200438 CCG - het . 4 +exonic MCM10 chr10 13214753 13214753 G C het . 11 +intronic MCM10 chr10 13251202 13251202 T A het . 15 +intronic SEPHS1 chr10 13364144 13364146 TTT - het . 7 +intronic BEND7 chr10 13532648 13532648 C T het . 1 +intergenic BEND7(dist=53166),PRPF18(dist=30797) chr10 13598142 13598142 G C het . 1 +intronic PRPF18 chr10 13630577 13630579 AAA - het . 2 +intronic PRPF18 chr10 13633739 13633739 A G het . 9 +intronic PRPF18 chr10 13653490 13653490 C A het . 5 +intronic FRMD4A chr10 13701176 13701176 C T het . 4 +intronic FRMD4A chr10 13733141 13733141 C T het . 3 +intronic FRMD4A chr10 13734138 13734138 A G het . 2 +intronic FRMD4A chr10 13824009 13824009 A G het . 2 +intronic FRMD4A chr10 13824029 13824029 A C het . 2 +intronic FRMD4A chr10 13915169 13915169 A T het . 3 +intronic FRMD4A chr10 13915176 13915176 - A het . 3 +intronic FRMD4A chr10 13915189 13915190 AT - het . 3 +intronic FRMD4A chr10 14247228 14247228 C G het . 2 +intronic FRMD4A chr10 14285421 14285421 A G het . 4 +intronic FRMD4A chr10 14296458 14296458 C A het . 2 +intronic FRMD4A chr10 14306078 14306078 T C het . 1 +intergenic FRMD4A(dist=12523),MIR4293(dist=39793) chr10 14385406 14385406 C G het . 2 +intergenic MIR4293(dist=25680),MIR1265(dist=27618) chr10 14450956 14450957 TA - het . 2 +intronic FAM107B chr10 14569999 14570000 TT - het . 13 +intronic FAM107B chr10 14612800 14612800 - A het . 2 +intronic HSPA14 chr10 14882041 14882042 AT - het . 18 +intronic HSPA14 chr10 14882061 14882061 T - het . 24 +intronic DCLRE1C chr10 14960088 14960088 G - het . 2 +intronic DCLRE1C chr10 14976343 14976343 G A het . 7 +intronic DCLRE1C chr10 14990952 14990952 C A het . 16 +intronic MEIG1 chr10 15014418 15014418 C G het . 9 +intronic MEIG1 chr10 15014440 15014440 A G het . 7 +intergenic MEIG1(dist=14007),ACBD7-DCLRE1CP1(dist=28214) chr10 15028857 15028857 G A het . 4 +intergenic MEIG1(dist=14203),ACBD7-DCLRE1CP1(dist=28018) chr10 15029053 15029053 G T het . 10 +ncRNA_intronic ACBD7-DCLRE1CP1 chr10 15090227 15090227 C T het . 2 +ncRNA_intronic ACBD7-DCLRE1CP1 chr10 15092112 15092112 C G het . 2 +ncRNA_intronic ACBD7-DCLRE1CP1 chr10 15120401 15120401 C A het . 9 +downstream RPP38(dist=60) chr10 15146316 15146316 G - het . 3 +upstream FAM171A1(dist=13) chr10 15413071 15413071 G A het . 7 +intergenic FAM171A1(dist=52256),ITGA8(dist=90634) chr10 15465314 15465314 C A het . 3 +intergenic FAM171A1(dist=122939),ITGA8(dist=19951) chr10 15535997 15535997 A G het . 3 +intergenic FAM171A1(dist=125660),ITGA8(dist=17228) chr10 15538718 15538720 TTT - het . 2 +intergenic FAM171A1(dist=141629),ITGA8(dist=1261) chr10 15554687 15554687 C T het . 2 +intronic ITGA8 chr10 15658742 15658742 A - het . 7 +intronic ITGA8 chr10 15658775 15658775 C G het . 6 +intronic ITGA8 chr10 15671051 15671051 T G het . 2 +exonic ITGA8 chr10 15714684 15714684 C T het . 19 +UTR5 MINDY3(NM_001318330:c.-23166C>T,NM_024948:c.-127C>T) chr10 15902425 15902425 G A het . 6 +intergenic MINDY3(dist=145856),PTER(dist=430554) chr10 16048388 16048388 A - het . 2 +intergenic MINDY3(dist=191115),PTER(dist=385294) chr10 16093647 16093648 AG - het . 3 +intergenic MINDY3(dist=422989),PTER(dist=153421) chr10 16325521 16325521 G A het . 2 +intergenic MINDY3(dist=495444),PTER(dist=80964) chr10 16397976 16397978 TAT - het . 2 +intronic RSU1 chr10 16654671 16654671 A T het . 1 +intronic RSU1 chr10 16737166 16737166 - AAA het . 1 +intronic RSU1 chr10 16749526 16749526 G T het . 3 +intronic CUBN chr10 16878139 16878139 C A het . 26 +intronic CUBN chr10 16911557 16911557 G - het . 11 +exonic CUBN chr10 16946053 16946053 C A het . 38 +intronic CUBN chr10 16961770 16961770 G A het . 6 +intronic CUBN chr10 17016767 17016767 C T het . 4 +intronic CUBN chr10 17018678 17018678 G C het . 1 +intronic CUBN chr10 17110595 17110595 G A het . 22 +intronic CUBN chr10 17164760 17164760 - C het . 19 +intronic CUBN chr10 17164773 17164773 A - het . 15 +intronic CUBN chr10 17164789 17164789 G T het . 16 +intronic TRDMT1 chr10 17204247 17204247 A T het . 5 +intronic VIM chr10 17278171 17278171 C G het . 17 +UTR3 VIM(NM_003380:c.*247C>T) chr10 17279517 17279517 C T het . 2 +intergenic VIM(dist=40466),ST8SIA6(dist=37351) chr10 17320062 17320062 C G het . 2 +intergenic ST8SIA6(dist=123928),HACD1(dist=11644) chr10 17620314 17620314 A G het . 7 +intronic STAM chr10 17730204 17730204 C A het . 3 +intronic MRC1,TMEM236 chr10 18063012 18063012 - TTTG het . 6 +intergenic SLC39A12(dist=26581),CACNB2(dist=70804) chr10 18358802 18358802 A G het . 8 +intergenic SLC39A12(dist=29108),CACNB2(dist=68277) chr10 18361329 18361329 T G het . 1 +intronic CACNB2 chr10 18471961 18471961 T G het . 1 +intronic CACNB2 chr10 18721764 18721764 - AAAC het . 3 +intronic CACNB2 chr10 18789945 18789945 C A het . 15 +intronic CACNB2 chr10 18803852 18803853 AA - het . 21 +UTR3 CACNB2(NM_201597:c.*10G>T,NM_201596:c.*10G>T,NM_201593:c.*10G>T,NM_001167945:c.*10G>T,NM_201572:c.*10G>T,NM_201571:c.*10G>T,NM_001330060:c.*10G>T,NM_000724:c.*10G>T,NM_201590:c.*10G>T,NM_201570:c.*10G>T) chr10 18828663 18828663 G T het . 8 +UTR3 CACNB2(NM_201597:c.*17delT,NM_201596:c.*17delT,NM_201593:c.*17delT,NM_001167945:c.*17delT,NM_201572:c.*17delT,NM_201571:c.*17delT,NM_001330060:c.*17delT,NM_000724:c.*17delT,NM_201590:c.*17delT,NM_201570:c.*17delT) chr10 18828670 18828670 T - het . 9 +UTR3 CACNB2(NM_201597:c.*68_*69insAA,NM_201596:c.*68_*69insAA,NM_201593:c.*68_*69insAA,NM_001167945:c.*68_*69insAA,NM_201572:c.*68_*69insAA,NM_201571:c.*68_*69insAA,NM_001330060:c.*68_*69insAA,NM_000724:c.*68_*69insAA,NM_201590:c.*68_*69insAA,NM_201570:c.*68_*69insAA) chr10 18828721 18828721 - AA het . 10 +UTR3 NSUN6(NM_001351116:c.*64delT,NM_001351115:c.*64delT,NM_182543:c.*64delT,NM_001351118:c.*64delT,NM_001351117:c.*64delT) chr10 18834798 18834798 A - het . 7 +intronic NSUN6 chr10 18883360 18883360 - T het . 4 +intronic NSUN6 chr10 18883370 18883370 G T het . 4 +intronic NSUN6 chr10 18937579 18937579 - AAG het . 13 +UTR5 NSUN6(NM_001351115:c.-25G>T,NM_182543:c.-25G>T,NM_001351118:c.-36617G>T,NM_001351117:c.-25G>T) chr10 18940157 18940157 C A het . 14 +UTR5 NSUN6(NM_001351115:c.-54_-53insA,NM_182543:c.-54_-53insA,NM_001351118:c.-36646_-36645insA,NM_001351117:c.-54_-53insA) chr10 18940185 18940185 - T het . 10 +intergenic ARL5B(dist=247378),MALRD1(dist=119751) chr10 19217946 19217949 TTTC - het . 4 +intergenic ARL5B(dist=247397),MALRD1(dist=119735) chr10 19217965 19217965 C - het . 4 +intergenic ARL5B(dist=247412),MALRD1(dist=119718) chr10 19217980 19217982 GAG - het . 4 +intergenic ARL5B(dist=258826),MALRD1(dist=108306) chr10 19229394 19229394 A G het . 4 +intergenic ARL5B(dist=358996),MALRD1(dist=8136) chr10 19329564 19329564 G A het . 2 +intronic MALRD1 chr10 19423471 19423474 TTTA - het . 3 +intronic MALRD1 chr10 19492566 19492566 A T het . 6 +exonic MALRD1 chr10 19620407 19620407 A C het . 30 +exonic MALRD1 chr10 19620439 19620439 A G het . 26 +intronic MALRD1 chr10 19636696 19636696 C G het . 8 +intronic MALRD1 chr10 19639145 19639145 C G het . 3 +intronic MALRD1 chr10 19651926 19651926 G A het . 2 +intronic MALRD1 chr10 19678087 19678087 G A het . 10 +intronic MALRD1 chr10 19720711 19720711 A T het . 2 +intronic MALRD1 chr10 19739459 19739459 T G het . 10 +intronic MALRD1 chr10 19750279 19750279 C T het . 2 +intronic MALRD1 chr10 19778056 19778056 G A het . 22 +intronic MALRD1 chr10 19778072 19778072 A G het . 20 +ncRNA_intronic LOC101928834 chr10 20002100 20002100 T - het . 3 +intronic PLXDC2 chr10 20133542 20133542 C T het . 2 +intronic PLXDC2 chr10 20357233 20357233 G T het . 12 +intronic PLXDC2 chr10 20491477 20491477 C A het . 2 +intronic PLXDC2 chr10 20495442 20495442 C G het . 3 +intergenic PLXDC2(dist=133499),MIR4675(dist=128616) chr10 20712283 20712283 T - het . 2 +intronic NEBL chr10 21081228 21081228 C T het . 3 +intronic NEBL chr10 21098880 21098881 AA - het . 9 +intronic NEBL chr10 21141441 21141441 G - het . 13 +intronic NEBL chr10 21158642 21158642 C A het . 23 +intronic NEBL chr10 21326720 21326720 G A het . 2 +intergenic NEBL-AS1(dist=61385),LOC105376444(dist=103925) chr10 21525237 21525237 T G het . 2 +intergenic LOC105376444(dist=87688),CASC10(dist=33854) chr10 21749567 21749567 - TTTG het . 6 +intronic CASC10 chr10 21785666 21785666 C - het . 3 +exonic SKIDA1 chr10 21806333 21806333 C A het . 3 +intronic MLLT10 chr10 21844605 21844605 T A het . 2 +intronic MLLT10 chr10 21875206 21875206 T - het . 20 +intronic MLLT10 chr10 21901256 21901257 TT - het . 12 +exonic EBLN1 chr10 22498468 22498468 C T het . 34 +exonic EBLN1 chr10 22498484 22498484 - AGA het . 30 +intergenic EBLN1(dist=25257),LOC100130992(dist=16832) chr10 22524169 22524169 A G het . 2 +intergenic EBLN1(dist=36635),LOC100130992(dist=5454) chr10 22535547 22535547 A G het . 1 +intronic BMI1,COMMD3-BMI1 chr10 22615750 22615750 G T het . 8 +exonic SPAG6 chr10 22700068 22700068 A C het . 19 +intergenic LOC100499489(dist=64502),PIP4K2A(dist=32406) chr10 22791360 22791360 G T het . 3 +intergenic LOC100499489(dist=64519),PIP4K2A(dist=32389) chr10 22791377 22791377 G T het . 3 +intergenic LOC100499489(dist=64527),PIP4K2A(dist=32381) chr10 22791385 22791385 G T het . 3 +intronic PIP4K2A chr10 22828834 22828841 GAGAGAGG - het . 9 +intronic PIP4K2A chr10 22828842 22828845 GAGA - het . 6 +intronic PIP4K2A chr10 22844750 22844750 C A het . 2 +intronic PIP4K2A chr10 22965011 22965011 G A het . 2 +intronic ARMC3 chr10 23297152 23297152 C A het . 12 +intergenic MSRB2(dist=1585),PTF1A(dist=68933) chr10 23412527 23412527 A - het . 2 +exonic PTF1A chr10 23482635 23482635 T C het . 15 +ncRNA_exonic LOC105376453 chr10 23632970 23632970 T G het . 3 +intergenic OTUD1(dist=118934),KIAA1217(dist=133431) chr10 23850244 23850244 G A het . 2 +intergenic OTUD1(dist=118955),KIAA1217(dist=133409) chr10 23850265 23850266 TG CA het . 2 +intergenic OTUD1(dist=169016),KIAA1217(dist=83349) chr10 23900326 23900326 G A het . 2 +intergenic OTUD1(dist=169020),KIAA1217(dist=83345) chr10 23900330 23900330 C T het . 2 +intergenic OTUD1(dist=169023),KIAA1217(dist=83342) chr10 23900333 23900333 T C het . 1 +intronic KIAA1217 chr10 24020667 24020667 T - het . 2 +intronic KIAA1217 chr10 24020678 24020678 T A het . 2 +intronic KIAA1217 chr10 24364466 24364466 C T het . 2 +intronic KIAA1217 chr10 24425104 24425105 GT TG het . 1 +intronic KIAA1217 chr10 24425167 24425167 C T het . 3 +intronic KIAA1217 chr10 24564831 24564831 C T het . 1 +intronic KIAA1217 chr10 24565347 24565347 G A het . 1 +intronic KIAA1217 chr10 24565359 24565359 A T het . 1 +intronic KIAA1217 chr10 24647982 24647982 - T het . 2 +intronic ARHGAP21 chr10 24878042 24878042 C A het . 9 +intronic ARHGAP21 chr10 24884780 24884780 A - het . 18 +intronic ARHGAP21 chr10 24916696 24916696 C G het . 2 +intergenic ARHGAP21(dist=19049),PRTFDC1(dist=105890) chr10 25031646 25031646 A G het . 2 +intergenic ARHGAP21(dist=34888),PRTFDC1(dist=90049) chr10 25047485 25047487 TTT - het . 1 +intergenic ARHGAP21(dist=49350),PRTFDC1(dist=75589) chr10 25061947 25061947 G A het . 2 +intergenic ARHGAP21(dist=100837),PRTFDC1(dist=24102) chr10 25113434 25113434 C A het . 5 +intronic PRTFDC1 chr10 25168676 25168676 C A het . 1 +intronic ENKUR chr10 25273311 25273311 - A het . 8 +exonic ENKUR chr10 25288470 25288470 A T het . 18 +intronic GPR158 chr10 25509895 25509895 G - het . 18 +intronic GPR158 chr10 25580776 25580781 TTAATA - het . 2 +intronic GPR158 chr10 25599720 25599720 T A het . 2 +intronic GPR158 chr10 25630889 25630889 C A het . 2 +intronic GPR158 chr10 25665111 25665111 A G het . 2 +intronic GPR158 chr10 25739205 25739205 T G het . 1 +intronic GPR158 chr10 25877860 25877863 AAAC - het . 5 +ncRNA_intronic LINC00836 chr10 25952257 25952257 G T het . 2 +ncRNA_intronic LINC00836 chr10 25994018 25994018 T C het . 2 +ncRNA_intronic LINC00836 chr10 25994028 25994028 C T het . 2 +intronic MYO3A chr10 26244089 26244089 T A het . 5 +intronic MYO3A chr10 26244096 26244096 G T het . 6 +intronic MYO3A chr10 26244146 26244146 A G het . 4 +intronic MYO3A chr10 26286067 26286068 TA - het . 24 +intronic MYO3A chr10 26291137 26291137 C A het . 3 +intronic MYO3A chr10 26318879 26318879 C T het . 2 +intronic MYO3A chr10 26355709 26355709 C A het . 9 +intronic MYO3A chr10 26355721 26355721 T C het . 13 +intronic MYO3A chr10 26355734 26355734 A G het . 15 +exonic MYO3A chr10 26357747 26357748 CG TA het . 27 +intronic MYO3A chr10 26359180 26359180 T G het . 35 +intronic MYO3A chr10 26359200 26359200 - A het . 36 +intronic MYO3A chr10 26364997 26364998 AG TC het . 2 +intronic MYO3A chr10 26424996 26424996 C T het . 2 +exonic MYO3A chr10 26446277 26446277 C A het . 51 +exonic MYO3A chr10 26446312 26446312 G A het . 58 +intronic MYO3A chr10 26453066 26453072 AGTGAAG - het . 5 +intronic GAD2 chr10 26556089 26556089 G T het . 2 +intergenic GAD2(dist=45898),APBB1IP(dist=87877) chr10 26639389 26639389 A T het . 3 +intergenic GAD2(dist=64054),APBB1IP(dist=69721) chr10 26657545 26657545 A - het . 2 +intergenic GAD2(dist=73414),APBB1IP(dist=60361) chr10 26666905 26666905 A G het . 1 +intronic APBB1IP chr10 26727934 26727934 C G het . 1 +intronic APBB1IP chr10 26739317 26739317 G C het . 2 +intronic APBB1IP chr10 26764337 26764337 G A het . 1 +intronic APBB1IP chr10 26802634 26802634 T - het . 6 +intronic PDSS1 chr10 27015999 27015999 C - het . 2 +intronic PDSS1 chr10 27029468 27029471 TGTC - het . 11 +intronic PDSS1 chr10 27030431 27030431 C A het . 2 +intergenic ABI1(dist=59085),FAM238C(dist=11034) chr10 27209101 27209101 T G het . 2 +intergenic FAM238C(dist=37345),ANKRD26(dist=24770) chr10 27268275 27268275 T C het . 2 +intronic ANKRD26 chr10 27311389 27311389 A - het . 18 +intronic ANKRD26 chr10 27318137 27318137 C A het . 20 +exonic ANKRD26 chr10 27318252 27318252 C A het . 35 +intronic ANKRD26 chr10 27333122 27333122 A - het . 22 +exonic ANKRD26 chr10 27350146 27350146 C A het . 35 +intronic ANKRD26 chr10 27355272 27355275 ATTA - het . 6 +intronic ANKRD26 chr10 27369162 27369162 T C het . 5 +intronic ANKRD26 chr10 27371647 27371647 T C het . 10 +intronic ANKRD26 chr10 27371672 27371672 C A het . 15 +intronic YME1L1 chr10 27406854 27406854 A G het . 4 +intronic YME1L1 chr10 27412331 27412331 C A het . 4 +intronic MASTL chr10 27461953 27461953 T A het . 4 +splicing ACBD5(NM_001352570:exon5:c.490+1G>T,NM_001352577:exon5:c.385+1G>T,NM_001352588:exon5:c.490+1G>T,NM_001352587:exon4:c.484+1G>T,NM_001352586:exon4:c.484+1G>T,NM_001352585:exon4:c.163+1G>T,NM_001352582:exon5:c.385+1G>T,NM_001352581:exon5:c.490+1G>T,NM_001352580:exon5:c.385+1G>T,NM_001352571:exon4:c.484+1G>T,NM_001352576:exon5:c.385+1G>T,NM_001352575:exon5:c.385+1G>T,NM_001352574:exon5:c.385+1G>T,NM_001352569:exon5:c.490+1G>T,NM_001352568:exon5:c.511+1G>T,NM_001301252:exon3:c.163+1G>T,NM_001352578:exon5:c.385+1G>T,NM_001352583:exon4:c.163+1G>T,NM_145698:exon5:c.490+1G>T,NM_001352584:exon4:c.163+1G>T,NM_001352579:exon5:c.385+1G>T,NM_001352573:exon5:c.490+1G>T,NM_001352572:exon5:c.511+1G>T,NM_001271512:exon4:c.484+1G>T,NM_001301254:exon3:c.163+1G>T,NM_001301253:exon4:c.163+1G>T,NM_001042473:exon5:c.385+1G>T,NM_001301251:exon4:c.163+1G>T) chr10 27512266 27512266 C A het . 46 +ncRNA_exonic LRRC37A6P chr10 27539002 27539002 G T het . 30 +ncRNA_intronic ARMC4P1 chr10 27554454 27554454 T A het . 2 +ncRNA_intronic ARMC4P1 chr10 27567902 27567902 G A het . 4 +intergenic ARMC4P1(dist=19792),PTCHD3(dist=43341) chr10 27643776 27643776 G A het . 1 +UTR3 RAB18(NM_021252:c.*278A>T,NM_001256415:c.*278A>T,NM_001256412:c.*278A>T,NM_001256411:c.*238A>T,NM_001256410:c.*278A>T) chr10 27827258 27827258 A T het . 27 +UTR3 RAB18(NM_021252:c.*3294_*3296delTTT,NM_001256415:c.*3294_*3296delTTT,NM_001256412:c.*3294_*3296delTTT,NM_001256411:c.*3254_*3256delTTT,NM_001256410:c.*3294_*3296delTTT) chr10 27830274 27830276 TTT - het . 13 +UTR3 RAB18(NM_021252:c.*3585_*3586delTT,NM_001256415:c.*3585_*3586delTT,NM_001256412:c.*3585_*3586delTT,NM_001256411:c.*3545_*3546delTT,NM_001256410:c.*3585_*3586delTT) chr10 27830565 27830566 TT - het . 22 +intergenic RAB18(dist=72977),MKX(dist=57660) chr10 27904143 27904143 A G het . 1 +intronic MKX chr10 27993183 27993183 T C het . 1 +intronic ARMC4 chr10 28151586 28151586 C A het . 15 +intronic ARMC4 chr10 28151605 28151605 T - het . 12 +intronic ARMC4 chr10 28196522 28196522 A T het . 3 +intronic ARMC4 chr10 28196818 28196818 T - het . 9 +intronic ARMC4 chr10 28259900 28259907 TAAATAAA - het . 2 +intronic ARMC4 chr10 28274146 28274146 A - het . 11 +intronic ARMC4 chr10 28286740 28286740 G A het . 4 +intronic MPP7 chr10 28346629 28346629 - GT het . 10 +intronic MPP7 chr10 28358548 28358549 CA AC het . 3 +exonic MPP7 chr10 28378758 28378758 T C het . 10 +intronic MPP7 chr10 28408844 28408844 - T het . 3 +intronic MPP7 chr10 28561839 28561839 T - het . 3 +intronic WAC chr10 28822769 28822769 C T het . 4 +intronic WAC chr10 28872481 28872481 - A het . 2 +intronic WAC chr10 28908342 28908342 T A het . 15 +intronic WAC chr10 28908453 28908453 T - het . 10 +UTR3 WAC(NM_100264:c.*1560C>T,NM_100486:c.*1560C>T,NM_016628:c.*1560C>T) chr10 28910095 28910095 C T het . 1 +intergenic WAC(dist=34344),BAMBI(dist=20039) chr10 28946385 28946385 - AAAGA het . 2 +exonic BAMBI chr10 28970425 28970425 T C het . 18 +ncRNA_intronic LINC01517 chr10 29048634 29048634 C T het . 2 +intergenic LINC01517(dist=1747),C10orf126(dist=36442) chr10 29098895 29098895 - T het . 2 +intergenic LINC01517(dist=1768),C10orf126(dist=36421) chr10 29098916 29098916 C G het . 2 +intergenic LINC01517(dist=4606),C10orf126(dist=33583) chr10 29101754 29101754 C G het . 2 +intergenic LINC01517(dist=6574),C10orf126(dist=31615) chr10 29103722 29103722 G C het . 3 +intergenic C10orf126(dist=17053),LYZL1(dist=390120) chr10 29187879 29187879 T - het . 20 +intergenic C10orf126(dist=91248),LYZL1(dist=315925) chr10 29262074 29262074 A G het . 2 +intergenic C10orf126(dist=153646),LYZL1(dist=253524) chr10 29324472 29324475 AAAG - het . 2 +intergenic C10orf126(dist=169132),LYZL1(dist=238041) chr10 29339958 29339958 A T het . 2 +intergenic C10orf126(dist=321639),LYZL1(dist=85531) chr10 29492465 29492468 AGAG - het . 2 +intergenic C10orf126(dist=321658),LYZL1(dist=85515) chr10 29492484 29492484 G C het . 2 +intronic SVIL chr10 29782337 29782337 A G het . 10 +intronic SVIL chr10 29803549 29803549 G A het . 2 +exonic SVIL chr10 29822032 29822032 C T het . 27 +exonic SVIL chr10 29839864 29839864 A C het . 29 +exonic SVIL chr10 29839878 29839878 A C het . 33 +intergenic SVIL(dist=143723),JCAD(dist=132076) chr10 30169653 30169653 A T het . 1 +intergenic SVIL(dist=200276),JCAD(dist=75523) chr10 30226206 30226206 A - het . 2 +intergenic SVIL(dist=240896),JCAD(dist=34903) chr10 30266826 30266826 T C het . 7 +intergenic JCAD(dist=19638),LOC101929279(dist=76720) chr10 30424061 30424061 - T het . 2 +intergenic JCAD(dist=19639),LOC101929279(dist=76719) chr10 30424062 30424062 G T het . 2 +intergenic JCAD(dist=28700),LOC101929279(dist=67658) chr10 30433123 30433123 A G het . 2 +intergenic JCAD(dist=42436),LOC101929279(dist=53922) chr10 30446859 30446859 T A het . 2 +intergenic JCAD(dist=72703),LOC101929279(dist=23655) chr10 30477126 30477126 A C het . 1 +ncRNA_intronic LOC101929279 chr10 30515982 30515982 G A het . 2 +intergenic LOC101929279(dist=3819),MTPAP(dist=73285) chr10 30525438 30525445 AGCCACAG - het . 4 +intergenic LOC101929279(dist=21021),MTPAP(dist=56090) chr10 30542640 30542640 G A het . 1 +intergenic LOC101929279(dist=71915),MTPAP(dist=5196) chr10 30593534 30593534 - AGAG het . 3 +intergenic LOC101929279(dist=73026),MTPAP(dist=4082) chr10 30594645 30594648 AAAC - het . 4 +exonic MTPAP chr10 30602683 30602683 G A het . 41 +intronic MTPAP chr10 30603816 30603816 A C het . 1 +intronic MTPAP chr10 30603838 30603838 G A het . 2 +intronic MTPAP chr10 30605170 30605170 T - het . 27 +intergenic MTPAP(dist=7691),GOLGA2P6(dist=7298) chr10 30645958 30645958 G A het . 2 +intergenic GOLGA2P6(dist=40707),MAP3K8(dist=21407) chr10 30701543 30701543 T C het . 2 +intergenic MAP3K8(dist=3750),LYZL2(dist=146196) chr10 30754512 30754512 A G het . 1 +intergenic MAP3K8(dist=129294),LYZL2(dist=20652) chr10 30880056 30880056 G A het . 1 +intronic LYZL2 chr10 30912239 30912239 C T het . 2 +intergenic LYZL2(dist=59695),SVIL2P(dist=2826) chr10 30978377 30978377 G C het . 5 +intergenic LYZL2(dist=59706),SVIL2P(dist=2815) chr10 30978388 30978388 C T het . 6 +ncRNA_exonic SVIL2P chr10 30989188 30989188 G C het . 6 +ncRNA_intronic SVIL2P chr10 31000309 31000309 - T het . 6 +ncRNA_intronic SVIL2P chr10 31000310 31000310 C A het . 6 +ncRNA_intronic SVIL2P chr10 31005822 31005822 C T het . 4 +intergenic LOC105376480(dist=66854),ZNF438(dist=54042) chr10 31079523 31079523 A - het . 2 +intronic ZNF438 chr10 31294460 31294460 G T het . 2 +intronic ZNF438 chr10 31294482 31294482 A T het . 4 +intergenic ZNF438(dist=29567),LOC101929352(dist=126379) chr10 31350433 31350433 T C het . 2 +intergenic ZNF438(dist=29777),LOC101929352(dist=126169) chr10 31350643 31350643 - TTTG het . 6 +intergenic ZNF438(dist=109558),LOC101929352(dist=46388) chr10 31430424 31430424 T C het . 1 +intergenic ZNF438(dist=131192),LOC101929352(dist=24754) chr10 31452058 31452058 A T het . 3 +UTR5 ZEB1(NM_001128128:c.-216C>A,NM_001323666:c.-189535C>A,NM_001323665:c.-189535C>A,NM_001323664:c.-189535C>A,NM_001323663:c.-189535C>A,NM_001323662:c.-189535C>A,NM_001323678:c.-216C>A,NM_001174094:c.-216C>A) chr10 31610239 31610239 C A het . 2 +intronic ZEB1 chr10 31813131 31813131 T - het . 10 +intergenic ZEB1(dist=151795),ARHGAP12(dist=123789) chr10 31970537 31970537 T C het . 1 +intergenic ZEB1(dist=255350),ARHGAP12(dist=20234) chr10 32074092 32074092 A G het . 2 +exonic ARHGAP12 chr10 32120678 32120678 C T het . 14 +exonic ARHGAP12 chr10 32197137 32197137 C A het . 6 +intronic KIF5B chr10 32327038 32327039 AA - het . 6 +intronic KIF5B chr10 32337341 32337341 C A het . 7 +intronic EPC1 chr10 32575793 32575793 A G het . 5 +intronic EPC1 chr10 32613629 32613629 G A het . 3 +intronic EPC1 chr10 32667234 32667234 - A het . 5 +intronic CCDC7 chr10 32800189 32800189 - G het . 10 +intronic CCDC7 chr10 32856577 32856577 C A het . 31 +intronic CCDC7 chr10 32897596 32897596 A G het . 2 +intronic CCDC7 chr10 32963050 32963050 G A het . 2 +intronic CCDC7 chr10 32974874 32974874 - AATAGATAAATAC het . 15 +intronic CCDC7 chr10 33014451 33014451 C A het . 8 +intronic ITGB1 chr10 33196810 33196810 A G het . 3 +intronic ITGB1 chr10 33196831 33196831 C A het . 2 +intronic ITGB1 chr10 33197131 33197134 CTTT - het . 10 +exonic ITGB1 chr10 33214802 33214802 A G het . 23 +intronic ITGB1 chr10 33221690 33221690 T A het . 3 +intergenic ITGB1(dist=107901),NRP1(dist=111225) chr10 33355194 33355194 G A het . 2 +intronic NRP1 chr10 33540069 33540069 T C het . 5 +intergenic NRP1(dist=34850),LINC00838(dist=389958) chr10 33658683 33658683 A G het . 1 +intergenic NRP1(dist=195363),LINC00838(dist=229445) chr10 33819196 33819196 G C het . 1 +intergenic NRP1(dist=208900),LINC00838(dist=215908) chr10 33832733 33832733 A G het . 2 +intergenic NRP1(dist=266054),LINC00838(dist=158754) chr10 33889887 33889887 C T het . 6 +intergenic LINC00838(dist=115698),PARD3(dist=221182) chr10 34177306 34177306 A T het . 2 +intronic PARD3 chr10 34606280 34606280 A - het . 13 +intronic PARD3 chr10 34624975 34624975 C T het . 2 +intronic PARD3 chr10 34648341 34648341 A - het . 5 +intronic PARD3 chr10 34666864 34666864 C T het . 3 +intronic CUL2 chr10 35300140 35300146 TTTTTTT - het . 3 +intronic CUL2 chr10 35300161 35300161 A G het . 2 +intronic CUL2 chr10 35314131 35314131 A - het . 10 +intronic CUL2 chr10 35317991 35317991 - T het . 6 +intronic CREM chr10 35419124 35419124 - A het . 4 +intronic CREM chr10 35456772 35456772 C A het . 11 +intronic CREM chr10 35466185 35466185 T G het . 2 +UTR5 CREM(NM_001352446:c.-10888T>G,NM_001352445:c.-10888T>G,NM_182724:c.-42T>G,NM_182723:c.-5459T>G,NM_182721:c.-42T>G,NM_001267570:c.-42T>G) chr10 35484949 35484949 T G het . 6 +intronic CCNY chr10 35818800 35818800 A - het . 20 +intronic GJD4 chr10 35895560 35895560 C T het . 3 +intergenic FZD8(dist=108666),PCAT5(dist=28202) chr10 36039028 36039028 T - het . 3 +ncRNA_intronic PCAT5 chr10 36069704 36069704 G T het . 2 +intergenic PCAT5(dist=321020),ANKRD30A(dist=1003917) chr10 36410868 36410868 A G het . 2 +intergenic PCAT5(dist=326002),ANKRD30A(dist=998935) chr10 36415850 36415850 A C het . 3 +intergenic PCAT5(dist=352647),ANKRD30A(dist=972290) chr10 36442495 36442495 C T het . 2 +intergenic PCAT5(dist=491923),ANKRD30A(dist=833014) chr10 36581771 36581771 A C het . 2 +intergenic PCAT5(dist=499376),ANKRD30A(dist=825561) chr10 36589224 36589224 C T het . 2 +intergenic PCAT5(dist=722591),ANKRD30A(dist=602346) chr10 36812439 36812439 C A het . 10 +intergenic PCAT5(dist=723332),ANKRD30A(dist=601605) chr10 36813180 36813180 T A het . 13 +intergenic PCAT5(dist=723350),ANKRD30A(dist=601587) chr10 36813198 36813198 A G het . 10 +intergenic PCAT5(dist=723370),ANKRD30A(dist=601567) chr10 36813218 36813218 C G het . 6 +intergenic PCAT5(dist=723450),ANKRD30A(dist=601487) chr10 36813298 36813298 G A het . 2 +intergenic PCAT5(dist=833587),ANKRD30A(dist=491350) chr10 36923435 36923435 C T het . 2 +intergenic PCAT5(dist=1026238),ANKRD30A(dist=298699) chr10 37116086 37116086 A - het . 2 +intergenic PCAT5(dist=1117749),ANKRD30A(dist=207188) chr10 37207597 37207597 A - het . 2 +intergenic PCAT5(dist=1200397),ANKRD30A(dist=124540) chr10 37290245 37290245 C A het . 2 +intronic ANKRD30A chr10 37431253 37431253 G A het . 9 +intronic ANKRD30A chr10 37451334 37451334 A G het . 3 +intronic ANKRD30A chr10 37490017 37490017 T - het . 10 +intergenic LINC00993(dist=102535),MTRNR2L7(dist=151875) chr10 37738491 37738491 G A het . 2 +intronic ZNF33A chr10 38306382 38306382 T G het . 2 +exonic ZNF37A chr10 38404188 38404188 G C het . 15 +ncRNA_intronic LOC100129055 chr10 38468802 38468802 - AG het . 4 +ncRNA_intronic LOC100129055 chr10 38468823 38468823 A - het . 4 +ncRNA_intronic LOC100129055 chr10 38468849 38468849 G A het . 4 +ncRNA_intronic LOC100129055 chr10 38468851 38468851 G C het . 4 +ncRNA_intronic LOC100129055 chr10 38468853 38468853 G A het . 4 +ncRNA_intronic LOC100129055 chr10 38468858 38468858 C A het . 3 +intergenic LINC00999(dist=56229),ACTR3BP5(dist=192408) chr10 38797310 38797319 GAATGGAATG - het . 2 +intergenic LINC00999(dist=74872),ACTR3BP5(dist=173774) chr10 38815953 38815953 A G het . 3 +intergenic LINC00999(dist=74902),ACTR3BP5(dist=173744) chr10 38815983 38815983 A G het . 2 +intergenic LINC00999(dist=75924),ACTR3BP5(dist=172722) chr10 38817005 38817005 - GGAAA het . 4 +intergenic LINC00999(dist=75937),ACTR3BP5(dist=172700) chr10 38817018 38817027 AATGGAATGG - het . 4 +intergenic LINC00999(dist=76186),ACTR3BP5(dist=172460) chr10 38817267 38817267 C G het . 3 +intergenic LINC00999(dist=76680),ACTR3BP5(dist=171966) chr10 38817761 38817761 T A het . 4 +intergenic LINC00999(dist=76688),ACTR3BP5(dist=171958) chr10 38817769 38817769 G T het . 4 +intergenic LINC00999(dist=76852),ACTR3BP5(dist=171794) chr10 38817933 38817933 G A het . 3 +intergenic LINC00999(dist=77060),ACTR3BP5(dist=171586) chr10 38818141 38818141 T G het . 2 +intergenic LINC00999(dist=153419),ACTR3BP5(dist=95227) chr10 38894500 38894500 T C het . 7 +intergenic LINC00999(dist=155986),ACTR3BP5(dist=92660) chr10 38897067 38897067 T A het . 19 +intergenic LINC00999(dist=158321),ACTR3BP5(dist=90325) chr10 38899402 38899402 G T het . 2 +intergenic LINC00999(dist=202150),ACTR3BP5(dist=46496) chr10 38943231 38943231 G A het . 7 +intergenic LINC00999(dist=233120),ACTR3BP5(dist=15526) chr10 38974201 38974201 T C het . 6 +intergenic LINC00999(dist=240968),ACTR3BP5(dist=7678) chr10 38982049 38982049 G A het . 8 +intergenic LINC00999(dist=241137),ACTR3BP5(dist=7509) chr10 38982218 38982218 A T het . 5 +intergenic ACTR3BP5(dist=19767),NONE(dist=NONE) chr10 39011138 39011138 G A het . 23 +intergenic ACTR3BP5(dist=32277),NONE(dist=NONE) chr10 39023648 39023648 G A het . 6 +intergenic ACTR3BP5(dist=79087),NONE(dist=NONE) chr10 39070458 39070458 A - het . 3 +intergenic ACTR3BP5(dist=113130),NONE(dist=NONE) chr10 39104501 39104501 T A het . 2 +intergenic ACTR3BP5(dist=143330),NONE(dist=NONE) chr10 39134701 39134701 C G het . 1 +intergenic ACTR3BP5(dist=143346),NONE(dist=NONE) chr10 39134717 39134717 G T het . 1 +intergenic ACTR3BP5(dist=143348),NONE(dist=NONE) chr10 39134719 39134719 A T het . 1 +intergenic ACTR3BP5(dist=146827),NONE(dist=NONE) chr10 39138198 39138198 A G het . 2 +intergenic ACTR3BP5(dist=146830),NONE(dist=NONE) chr10 39138201 39138201 T A het . 2 +intergenic ACTR3BP5(dist=148938),NONE(dist=NONE) chr10 39140309 39140309 G A het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=468705) chr10 42358609 42358609 A T het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=464199) chr10 42363115 42363115 A T het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=458098) chr10 42369216 42369216 C G het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=458089) chr10 42369225 42369225 C T het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=448724) chr10 42378590 42378590 G T het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=448698) chr10 42378616 42378616 A T het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=448374) chr10 42378940 42378940 T G het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=446376) chr10 42380938 42380938 C G het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=443794) chr10 42383520 42383520 A C het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=443745) chr10 42383569 42383569 G A het . 4 +intergenic NONE(dist=NONE),LOC441666(dist=443642) chr10 42383672 42383672 C T het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=443624) chr10 42383690 42383690 T A het . 4 +intergenic NONE(dist=NONE),LOC441666(dist=443043) chr10 42384271 42384271 A C het . 9 +intergenic NONE(dist=NONE),LOC441666(dist=442175) chr10 42385139 42385139 A T het . 8 +intergenic NONE(dist=NONE),LOC441666(dist=442169) chr10 42385145 42385145 G A het . 8 +intergenic NONE(dist=NONE),LOC441666(dist=442123) chr10 42385191 42385191 A G het . 45 +intergenic NONE(dist=NONE),LOC441666(dist=442117) chr10 42385197 42385197 T G het . 53 +intergenic NONE(dist=NONE),LOC441666(dist=442115) chr10 42385199 42385199 T C het . 54 +intergenic NONE(dist=NONE),LOC441666(dist=442078) chr10 42385236 42385236 A T het . 59 +intergenic NONE(dist=NONE),LOC441666(dist=442059) chr10 42385255 42385255 G A het . 41 +intergenic NONE(dist=NONE),LOC441666(dist=442057) chr10 42385257 42385257 A G het . 39 +intergenic NONE(dist=NONE),LOC441666(dist=440406) chr10 42386908 42386908 C T het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=439609) chr10 42387705 42387705 C T het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=439547) chr10 42387767 42387767 C A het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=439535) chr10 42387779 42387779 T G het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=439421) chr10 42387893 42387893 C T het . 4 +intergenic NONE(dist=NONE),LOC441666(dist=439410) chr10 42387904 42387904 A G het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=437837) chr10 42389477 42389477 G T het . 6 +intergenic NONE(dist=NONE),LOC441666(dist=437834) chr10 42389480 42389480 T G het . 6 +intergenic NONE(dist=NONE),LOC441666(dist=437820) chr10 42389494 42389494 G A het . 6 +intergenic NONE(dist=NONE),LOC441666(dist=436873) chr10 42390441 42390441 C T het . 1 +intergenic NONE(dist=NONE),LOC441666(dist=436360) chr10 42390954 42390954 G A het . 15 +intergenic NONE(dist=NONE),LOC441666(dist=436326) chr10 42390988 42390988 G A het . 23 +intergenic NONE(dist=NONE),LOC441666(dist=436269) chr10 42391045 42391045 C T het . 4 +intergenic NONE(dist=NONE),LOC441666(dist=435229) chr10 42392085 42392085 G T het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=435226) chr10 42392088 42392088 C T het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=434233) chr10 42393081 42393081 T A het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=434187) chr10 42393127 42393127 G T het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=433727) chr10 42393587 42393587 T A het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=433699) chr10 42393615 42393615 T A het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=432428) chr10 42394886 42394886 T C het . 1 +intergenic NONE(dist=NONE),LOC441666(dist=426928) chr10 42400386 42400386 A T het . 13 +intergenic NONE(dist=NONE),LOC441666(dist=426671) chr10 42400642 42400643 CA AG het . 7 +intergenic NONE(dist=NONE),LOC441666(dist=425277) chr10 42402037 42402037 C G het . 1 +intergenic NONE(dist=NONE),LOC441666(dist=425265) chr10 42402049 42402049 T A het . 1 +intergenic NONE(dist=NONE),LOC441666(dist=422871) chr10 42404443 42404443 T A het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=419031) chr10 42408283 42408283 G A het . 22 +intergenic NONE(dist=NONE),LOC441666(dist=419028) chr10 42408286 42408286 A G het . 22 +intergenic NONE(dist=NONE),LOC441666(dist=300048) chr10 42527266 42527266 C G het . 11 +intergenic NONE(dist=NONE),LOC441666(dist=300046) chr10 42527268 42527268 A T het . 11 +intergenic NONE(dist=NONE),LOC441666(dist=300035) chr10 42527279 42527279 G A het . 11 +intergenic NONE(dist=NONE),LOC441666(dist=297895) chr10 42529419 42529419 A T het . 33 +intergenic NONE(dist=NONE),LOC441666(dist=297884) chr10 42529430 42529430 T A het . 33 +intergenic NONE(dist=NONE),LOC441666(dist=297882) chr10 42529432 42529432 T A het . 33 +intergenic NONE(dist=NONE),LOC441666(dist=297871) chr10 42529443 42529443 A G het . 33 +intergenic NONE(dist=NONE),LOC441666(dist=297867) chr10 42529447 42529447 T C het . 31 +intergenic NONE(dist=NONE),LOC441666(dist=297838) chr10 42529476 42529476 T C het . 11 +intergenic NONE(dist=NONE),LOC441666(dist=296595) chr10 42530719 42530719 C A het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=230136) chr10 42597178 42597178 G A het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=230129) chr10 42597185 42597185 A C het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=230117) chr10 42597197 42597197 A C het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=229654) chr10 42597660 42597660 C G het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=229638) chr10 42597676 42597676 T C het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=229635) chr10 42597679 42597679 T C het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=229622) chr10 42597692 42597692 C A het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=229100) chr10 42598213 42598214 CT GG het . 1 +intergenic NONE(dist=NONE),LOC441666(dist=227308) chr10 42600006 42600006 A G het . 5 +intergenic NONE(dist=NONE),LOC441666(dist=227234) chr10 42600080 42600080 C T het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=227223) chr10 42600091 42600091 G A het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=219712) chr10 42607602 42607602 T C het . 1 +intergenic NONE(dist=NONE),LOC441666(dist=219549) chr10 42607765 42607765 A C het . 1 +intergenic NONE(dist=NONE),LOC441666(dist=209796) chr10 42617518 42617518 C T het . 9 +intergenic NONE(dist=NONE),LOC441666(dist=209723) chr10 42617591 42617591 T C het . 14 +intergenic NONE(dist=NONE),LOC441666(dist=209703) chr10 42617611 42617611 C A het . 10 +intergenic NONE(dist=NONE),LOC441666(dist=209654) chr10 42617660 42617660 G T het . 11 +intergenic NONE(dist=NONE),LOC441666(dist=186582) chr10 42640732 42640732 G T het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=186524) chr10 42640790 42640790 C G het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=185742) chr10 42641572 42641572 C A het . 7 +intergenic NONE(dist=NONE),LOC441666(dist=185684) chr10 42641630 42641630 T C het . 12 +intergenic NONE(dist=NONE),LOC441666(dist=185668) chr10 42641646 42641646 C T het . 6 +intergenic NONE(dist=NONE),LOC441666(dist=185657) chr10 42641657 42641657 G A het . 4 +intergenic NONE(dist=NONE),LOC441666(dist=185543) chr10 42641771 42641771 T C het . 5 +intergenic NONE(dist=NONE),LOC441666(dist=182585) chr10 42644729 42644729 T C het . 5 +intergenic NONE(dist=NONE),LOC441666(dist=182552) chr10 42644762 42644762 C G het . 9 +intergenic NONE(dist=NONE),LOC441666(dist=182548) chr10 42644766 42644766 T C het . 9 +intergenic NONE(dist=NONE),LOC441666(dist=182521) chr10 42644793 42644793 T G het . 7 +intergenic NONE(dist=NONE),LOC441666(dist=182357) chr10 42644957 42644957 T C het . 4 +intergenic NONE(dist=NONE),LOC441666(dist=182339) chr10 42644975 42644975 T C het . 4 +intergenic NONE(dist=NONE),LOC441666(dist=182326) chr10 42644987 42644988 CC GT het . 3 +intergenic NONE(dist=NONE),LOC441666(dist=182317) chr10 42644997 42644997 G C het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=166519) chr10 42660795 42660795 C G het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=159935) chr10 42667379 42667379 G A het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=81069) chr10 42746245 42746245 G A het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=70030) chr10 42757284 42757284 G A het . 2 +intergenic NONE(dist=NONE),LOC441666(dist=59995) chr10 42767319 42767319 T A het . 21 +intergenic NONE(dist=NONE),LOC441666(dist=59985) chr10 42767329 42767329 G A het . 19 +ncRNA_intronic CCNYL2 chr10 42941685 42941685 - A het . 26 +ncRNA_intronic CCNYL2 chr10 42957875 42957875 C G het . 2 +ncRNA_intronic ZNF37BP chr10 43020894 43020894 C T het . 2 +intergenic LINC01518(dist=3804),LOC283028(dist=55625) chr10 43191011 43191011 A C het . 3 +intergenic LINC01518(dist=12101),LOC283028(dist=47328) chr10 43199308 43199308 A G het . 2 +ncRNA_intronic LOC105378269 chr10 43255040 43255040 G A het . 5 +intronic BMS1 chr10 43282052 43282052 C T het . 1 +intronic BMS1 chr10 43282054 43282054 G T het . 1 +intronic BMS1 chr10 43282057 43282057 G T het . 1 +intronic BMS1 chr10 43285969 43285969 G T het . 19 +exonic BMS1 chr10 43292085 43292085 G A het . 22 +intronic RASGEF1A chr10 43694298 43694298 A C het . 6 +intronic RASGEF1A chr10 43694304 43694304 A C het . 7 +intronic RASGEF1A chr10 43694306 43694306 T G het . 8 +intronic RASGEF1A chr10 43694310 43694310 A C het . 8 +intronic RASGEF1A chr10 43694319 43694319 T G het . 9 +intronic RASGEF1A chr10 43694363 43694363 - A het . 16 +intronic RASGEF1A chr10 43694498 43694498 T G het . 10 +intronic RASGEF1A chr10 43694501 43694501 - C het . 10 +intronic RASGEF1A chr10 43695049 43695049 T C het . 4 +intronic RASGEF1A chr10 43737565 43737565 G A het . 5 +intergenic RASGEF1A(dist=23187),FXYD4(dist=81538) chr10 43785554 43785554 A C het . 9 +intergenic RASGEF1A(dist=66664),FXYD4(dist=38061) chr10 43829031 43829031 T C het . 4 +intronic HNRNPF chr10 43883389 43883389 A - het . 3 +intronic ZNF239 chr10 44058199 44058199 G A het . 3 +ncRNA_intronic ZNF32-AS3 chr10 44134673 44134673 G A het . 2 +ncRNA_exonic LINC00619 chr10 44345331 44345331 G A het . 4 +intronic CXCL12 chr10 44868856 44868856 A C het . 10 +UTR3 CXCL12(NM_199168:c.*88_*89insAG) chr10 44873992 44873992 - CT het . 6 +intergenic CXCL12(dist=5257),TMEM72-AS1(dist=420670) chr10 44885802 44885802 A G het . 1 +intergenic CXCL12(dist=89941),TMEM72-AS1(dist=335986) chr10 44970486 44970486 G A het . 1 +intergenic CXCL12(dist=147748),TMEM72-AS1(dist=278179) chr10 45028293 45028293 T C het . 2 +intergenic CXCL12(dist=228962),TMEM72-AS1(dist=196965) chr10 45109507 45109507 A - het . 2 +intergenic CXCL12(dist=267666),TMEM72-AS1(dist=158261) chr10 45148211 45148211 C G het . 2 +intronic RASSF4 chr10 45467069 45467069 G A het . 14 +intronic RASSF4 chr10 45483043 45483044 TT AA het . 2 +ncRNA_intronic RSU1P2 chr10 45622885 45622885 C T het . 11 +ncRNA_intronic ANKRD30BP3 chr10 45662213 45662213 A G het . 4 +ncRNA_intronic ANKRD30BP3 chr10 45662229 45662229 A T het . 3 +ncRNA_intronic ANKRD30BP3 chr10 45672898 45672898 A G het . 3 +intergenic ANKRD30BP3(dist=62376),OR13A1(dist=54237) chr10 45743865 45743865 G T het . 2 +intergenic OR13A1(dist=32936),ALOX5(dist=25622) chr10 45843992 45843992 C T het . 2 +intronic ALOX5 chr10 45938301 45938301 G T het . 2 +exonic MARCH8 chr10 45958977 45958977 C T het . 16 +intronic ZFAND4 chr10 46119931 46119931 C A het . 10 +intergenic ZFAND4(dist=33870),WASHC2C(dist=20517) chr10 46202131 46202131 G T het . 19 +upstream GPRIN2(dist=280) chr10 46993266 46993266 C G het . 4 +upstream GPRIN2(dist=97) chr10 46993449 46993449 A C het . 2 +intronic GPRIN2 chr10 46994707 46994707 T C het . 2 +exonic GPRIN2 chr10 46999577 46999577 G T het . 8 +exonic GPRIN2 chr10 46999591 46999591 - ATGAGGGAG het . 12 +exonic GPRIN2 chr10 46999596 46999596 G A het . 14 +exonic GPRIN2 chr10 46999604 46999604 A G het . 17 +exonic GPRIN2 chr10 47000004 47000004 T C het . 14 +intergenic GPRIN2(dist=11404),NPY4R(dist=66487) chr10 47017047 47017047 A G het . 6 +intergenic GPRIN2(dist=60321),NPY4R(dist=17570) chr10 47065964 47065964 C A het . 2 +intergenic GPRIN2(dist=63877),NPY4R(dist=14014) chr10 47069520 47069520 C T het . 2 +intergenic GPRIN2(dist=65106),NPY4R(dist=12785) chr10 47070749 47070749 A C het . 2 +intergenic GPRIN2(dist=68641),NPY4R(dist=9250) chr10 47074284 47074284 G A het . 2 +intergenic GPRIN2(dist=69904),NPY4R(dist=7987) chr10 47075547 47075547 C G het . 2 +ncRNA_intronic LINC00842 chr10 47100673 47100673 T C het . 2 +ncRNA_intronic LINC00842 chr10 47105303 47105303 T G het . 2 +ncRNA_intronic LINC00842 chr10 47106046 47106046 T G het . 2 +ncRNA_intronic LINC00842 chr10 47106479 47106479 G A het . 2 +ncRNA_intronic LINC00842 chr10 47106486 47106487 CA TG het . 2 +ncRNA_intronic LINC00842 chr10 47112921 47112921 A G het . 2 +ncRNA_intronic LINC00842 chr10 47113120 47113120 C G het . 2 +ncRNA_intronic LINC00842 chr10 47113799 47113799 - AAGA het . 2 +ncRNA_intronic LINC00842 chr10 47115171 47115171 T C het . 2 +ncRNA_intronic LINC00842 chr10 47116407 47116407 T C het . 2 +ncRNA_intronic LINC00842 chr10 47118346 47118346 T C het . 4 +ncRNA_intronic LINC00842 chr10 47119510 47119510 G A het . 2 +ncRNA_intronic LINC00842 chr10 47120646 47120646 C T het . 3 +ncRNA_intronic LINC00842 chr10 47123062 47123062 T C het . 2 +ncRNA_intronic LINC00842 chr10 47123095 47123095 T C het . 2 +ncRNA_intronic LINC00842 chr10 47124144 47124144 T G het . 2 +ncRNA_intronic LINC00842 chr10 47129684 47129684 T C het . 2 +ncRNA_exonic HNRNPA1P33 chr10 47133375 47133375 C T het . 41 +ncRNA_exonic HNRNPA1P33 chr10 47133793 47133793 G A het . 18 +ncRNA_exonic HNRNPA1P33 chr10 47133816 47133816 T A het . 19 +ncRNA_exonic HNRNPA1P33 chr10 47133818 47133818 G A het . 19 +ncRNA_exonic HNRNPA1P33 chr10 47133833 47133833 A G het . 18 +ncRNA_intronic LINC00842 chr10 47134007 47134007 A C het . 8 +ncRNA_intronic LINC00842 chr10 47135918 47135918 G A het . 3 +ncRNA_intronic LINC00842 chr10 47137756 47137756 C T het . 4 +ncRNA_intronic LINC00842 chr10 47140304 47140304 C G het . 2 +ncRNA_intronic LINC00842 chr10 47140359 47140359 C A het . 2 +ncRNA_intronic LINC00842 chr10 47142843 47142843 T A het . 2 +ncRNA_intronic LINC00842 chr10 47144317 47144317 G A het . 1 +ncRNA_intronic LINC00842 chr10 47147448 47147448 G A het . 2 +ncRNA_intronic LINC00842 chr10 47147454 47147454 G T het . 2 +ncRNA_intronic ANTXRLP1 chr10 47634921 47634921 G T het . 4 +intergenic GDF10(dist=189411),PTPN20(dist=108493) chr10 48628549 48628549 T C het . 1 +exonic ARHGAP22 chr10 49687800 49687800 G A het . 4 +UTR5 ARHGAP22(NM_001256026:c.-119C>A) chr10 49701652 49701652 G T het . 3 +intronic WDFY4 chr10 49928182 49928182 G A het . 10 +intronic WDFY4 chr10 50031213 50031213 T - het . 15 +intronic WDFY4 chr10 50038720 50038720 G T het . 5 +intergenic MIR4294(dist=21260),VSTM4(dist=7398) chr10 50214892 50214892 A T het . 2 +intergenic MIR4294(dist=21268),VSTM4(dist=7390) chr10 50214900 50214900 G A het . 2 +intronic TMEM273 chr10 50394048 50394050 GAG - het . 8 +intergenic DRGX(dist=54621),ERCC6(dist=3843) chr10 50658683 50658683 C G het . 1 +UTR3 ERCC6(NM_001346440:c.*232delT,NM_000124:c.*232delT) chr10 50666629 50666629 A - het . 5 +exonic ERCC6,PGBD3 chr10 50723684 50723684 G A het . 18 +exonic ERCC6,PGBD3 chr10 50723707 50723707 C A het . 18 +intronic ERCC6 chr10 50741180 50741180 G A het . 10 +exonic SLC18A3 chr10 50819210 50819210 A G het . 16 +UTR5 CHAT(NM_001142933:c.-1873T>G,NM_001142929:c.-2390T>G,NM_001142934:c.-2390T>G,NM_020549:c.-10T>G) chr10 50822226 50822226 T G het . 6 +intronic CHAT chr10 50835967 50835967 C A het . 1 +intronic CHAT chr10 50863565 50863565 C T het . 2 +upstream C10orf53(dist=25) chr10 50887651 50887651 G C het . 4 +intronic PARG chr10 51027586 51027586 T A het . 3 +exonic PARG chr10 51028256 51028256 T C het . 15 +intronic PARG chr10 51029914 51029914 C A het . 3 +UTR5 NCOA4(NM_001145261:c.-38A>T,NM_001145260:c.-38A>T) chr10 51568319 51568319 A T het . 5 +intronic NCOA4,TIMM23B chr10 51580467 51580467 C G het . 2 +ncRNA_exonic FAM21EP chr10 51818914 51818914 - CAT het . 12 +ncRNA_intronic FAM21EP chr10 51823051 51823051 T - het . 9 +intergenic ASAH2(dist=17261),SGMS1(dist=39714) chr10 52025631 52025631 C A het . 14 +intronic SGMS1 chr10 52088004 52088004 C T het . 5 +exonic SGMS1 chr10 52103648 52103648 T G het . 29 +intergenic ASAH2B(dist=38786),A1CF(dist=3437) chr10 52555732 52555732 T G het . 6 +exonic A1CF chr10 52575941 52575941 C T het . 18 +intronic PRKG1 chr10 52763441 52763441 C T het . 2 +exonic PRKG1 chr10 52834602 52834602 C A het . 24 +intronic PRKG1 chr10 53369764 53369764 T A het . 2 +intronic PRKG1 chr10 53833671 53833671 G A het . 1 +intronic PRKG1 chr10 53893834 53893834 T C het . 4 +intronic PRKG1 chr10 53973005 53973005 G A het . 1 +exonic DKK1 chr10 54074757 54074757 A G het . 4 +intergenic DKK1(dist=33678),LNCAROD(dist=99542) chr10 54111095 54111095 A G het . 2 +intergenic DKK1(dist=77753),LNCAROD(dist=55465) chr10 54155170 54155172 TTT - het . 3 +ncRNA_intronic LOC105378305 chr10 54504733 54504733 A T het . 2 +intergenic MBL2(dist=113209),PCDH15(dist=917862) chr10 54644669 54644669 C G het . 2 +intergenic MBL2(dist=185967),PCDH15(dist=845104) chr10 54717427 54717427 T C het . 2 +intergenic MBL2(dist=247638),PCDH15(dist=783433) chr10 54779098 54779098 - C het . 6 +intergenic MBL2(dist=398306),PCDH15(dist=632764) chr10 54929766 54929767 GG AA het . 2 +intergenic MBL2(dist=526748),PCDH15(dist=504323) chr10 55058208 55058208 T - het . 2 +intergenic MBL2(dist=542826),PCDH15(dist=488245) chr10 55074286 55074286 A T het . 2 +intergenic MBL2(dist=712007),PCDH15(dist=319064) chr10 55243467 55243467 T A het . 1 +intergenic MBL2(dist=793624),PCDH15(dist=237447) chr10 55325084 55325084 G A het . 1 +intergenic MBL2(dist=867412),PCDH15(dist=163656) chr10 55398872 55398875 TTTG - het . 4 +intronic PCDH15 chr10 55643771 55643771 T C het . 2 +intronic PCDH15 chr10 55643784 55643784 - A het . 2 +intronic PCDH15 chr10 55647663 55647663 A C het . 2 +intronic PCDH15 chr10 55818438 55818438 A C het . 4 +intronic PCDH15 chr10 55826793 55826793 A T het . 17 +intronic PCDH15 chr10 55826813 55826813 G A het . 19 +intronic PCDH15 chr10 55943184 55943184 T C het . 17 +intronic PCDH15 chr10 55960494 55960494 T C het . 2 +intronic PCDH15 chr10 55962625 55962625 G A het . 2 +intronic PCDH15 chr10 55962637 55962637 A G het . 2 +intronic PCDH15 chr10 55996336 55996336 C T het . 6 +intronic PCDH15 chr10 55998414 55998414 T C het . 3 +intronic PCDH15 chr10 56060068 56060068 G A het . 2 +intronic PCDH15 chr10 56075693 56075700 TTTTTTTG - het . 2 +intronic PCDH15 chr10 56082241 56082241 G C het . 1 +intronic PCDH15 chr10 56106247 56106247 G A het . 24 +intronic PCDH15 chr10 56172457 56172457 C T het . 2 +intronic PCDH15 chr10 56172484 56172484 C T het . 2 +ncRNA_intronic LOC105378311 chr10 56345425 56345425 G A het . 3 +intronic PCDH15 chr10 56438971 56438971 A C het . 2 +intronic PCDH15 chr10 56514555 56514555 C T het . 3 +intronic PCDH15 chr10 56516024 56516024 G T het . 2 +intronic PCDH15 chr10 56580765 56580765 G A het . 2 +intronic PCDH15 chr10 56757380 56757380 G A het . 2 +intronic PCDH15 chr10 56880393 56880393 A G het . 2 +intronic PCDH15 chr10 57020179 57020179 G A het . 2 +intergenic PCDH15(dist=216862),ZWINT(dist=512635) chr10 57604564 57604564 T G het . 1 +intergenic ZWINT(dist=51284),MIR3924(dist=891921) chr10 58172318 58172318 A G het . 2 +intergenic ZWINT(dist=288964),MIR3924(dist=654241) chr10 58409998 58409998 G A het . 1 +intergenic ZWINT(dist=290034),MIR3924(dist=653171) chr10 58411068 58411068 A G het . 2 +intergenic ZWINT(dist=449377),MIR3924(dist=493828) chr10 58570411 58570411 C T het . 2 +intergenic ZWINT(dist=516206),MIR3924(dist=426999) chr10 58637240 58637240 A T het . 2 +intergenic ZWINT(dist=599581),MIR3924(dist=343624) chr10 58720615 58720615 G A het . 1 +intergenic ZWINT(dist=632926),MIR3924(dist=310279) chr10 58753960 58753960 G T het . 2 +intergenic ZWINT(dist=719386),MIR3924(dist=223819) chr10 58840420 58840420 C T het . 4 +intergenic ZWINT(dist=766276),MIR3924(dist=176929) chr10 58887310 58887310 G A het . 2 +intergenic ZWINT(dist=817707),MIR3924(dist=125498) chr10 58938741 58938741 G A het . 2 +intergenic ZWINT(dist=819768),MIR3924(dist=123437) chr10 58940802 58940802 T A het . 1 +intergenic ZWINT(dist=819774),MIR3924(dist=123431) chr10 58940808 58940808 G A het . 1 +intergenic ZWINT(dist=880782),MIR3924(dist=62423) chr10 59001816 59001816 T G het . 1 +intergenic ZWINT(dist=889935),MIR3924(dist=53270) chr10 59010969 59010969 G T het . 2 +intergenic MIR3924(dist=429158),IPMK(dist=457801) chr10 59493477 59493477 G C het . 1 +intergenic MIR3924(dist=494497),IPMK(dist=392462) chr10 59558816 59558816 C T het . 2 +intergenic MIR3924(dist=497098),IPMK(dist=389861) chr10 59561417 59561417 C T het . 2 +intergenic MIR3924(dist=497111),IPMK(dist=389848) chr10 59561430 59561430 A C het . 3 +intergenic MIR3924(dist=678226),IPMK(dist=208733) chr10 59742545 59742545 G T het . 2 +intergenic MIR3924(dist=678247),IPMK(dist=208712) chr10 59742566 59742566 G T het . 2 +intergenic MIR3924(dist=773762),IPMK(dist=113197) chr10 59838081 59838081 C T het . 1 +intronic IPMK chr10 60008611 60008611 T C het . 6 +intergenic TFAM(dist=107849),BICC1(dist=6065) chr10 60266839 60266839 A G het . 3 +intronic BICC1 chr10 60273121 60273121 T C het . 2 +intronic BICC1 chr10 60274970 60274970 T G het . 2 +intronic BICC1 chr10 60280637 60280638 AT - het . 2 +intronic BICC1 chr10 60301294 60301294 A T het . 2 +intronic BICC1 chr10 60392437 60392437 A C het . 2 +intronic BICC1 chr10 60535166 60535166 A C het . 2 +intergenic BICC1(dist=95778),LINC00844(dist=72303) chr10 60686975 60686975 C A het . 3 +intergenic BICC1(dist=95793),LINC00844(dist=72288) chr10 60686990 60686990 G A het . 3 +intergenic LINC00844(dist=3123),CCEPR(dist=169223) chr10 60764500 60764500 C T het . 1 +exonic FAM13C chr10 61028350 61028350 T G het . 22 +UTR5 FAM13C(NM_198215:c.-49_-48insTA,NM_001166698:c.-10165_-10164insTA,NM_001347850:c.-34837_-34836insTA,NM_001001971:c.-49_-48insTA,NM_001347851:c.-10165_-10164insTA,NM_001347849:c.-49_-48insTA,NM_001347852:c.-49_-48insTA) chr10 61122268 61122268 - TA het . 12 +exonic SLC16A9 chr10 61413959 61413959 C A het . 38 +intronic CCDC6 chr10 61612199 61612199 T C het . 6 +intergenic CCDC6(dist=20169),LINC01553(dist=31392) chr10 61686583 61686583 C T het . 1 +intergenic LINC01553(dist=33057),ANK3(dist=32328) chr10 61753728 61753728 T - het . 2 +intronic ANK3 chr10 61793294 61793294 A C het . 3 +intronic ANK3 chr10 61813353 61813353 C A het . 12 +intronic ANK3 chr10 61817622 61817622 C T het . 1 +intronic ANK3 chr10 61818859 61818859 A T het . 2 +exonic ANK3 chr10 61832313 61832313 C T het . 24 +exonic ANK3 chr10 61834672 61834672 C A het . 28 +intronic ANK3 chr10 61868012 61868012 A G het . 12 +intronic ANK3 chr10 61956386 61956386 - A het . 12 +intronic ANK3 chr10 62021605 62021605 C A het . 5 +intronic ANK3 chr10 62041683 62041683 C G het . 2 +intronic ANK3 chr10 62399512 62399512 C A het . 1 +intergenic ANK3(dist=25249),CDK1(dist=19556) chr10 62518533 62518533 G A het . 2 +intergenic ANK3(dist=31967),CDK1(dist=12838) chr10 62525251 62525251 G A het . 5 +intergenic ANK3(dist=31998),CDK1(dist=12807) chr10 62525282 62525282 C T het . 5 +intronic CDK1 chr10 62551889 62551890 AA GT het . 21 +intergenic CDK1(dist=44228),RHOBTB1(dist=30357) chr10 62598839 62598839 C T het . 2 +intergenic LINC00845(dist=54576),TMEM26(dist=325649) chr10 62840751 62840751 G T het . 2 +intergenic LINC00845(dist=79405),TMEM26(dist=300820) chr10 62865580 62865580 T A het . 2 +intergenic LINC00845(dist=332944),TMEM26(dist=47281) chr10 63119119 63119119 C T het . 2 +intronic TMEM26 chr10 63175734 63175734 C A het . 12 +intronic CABCOCO1 chr10 63441107 63441107 T C het . 11 +intronic CABCOCO1 chr10 63471168 63471168 A G het . 2 +exonic CABCOCO1 chr10 63525768 63525768 C A het . 25 +intronic ARID5B chr10 63810849 63810849 C A het . 18 +intronic RTKN2 chr10 63959425 63959425 C A het . 9 +intronic RTKN2 chr10 63977069 63977069 A T het . 7 +intronic RTKN2 chr10 63978078 63978078 A - het . 3 +exonic ZNF365 chr10 64136475 64136475 A C het . 21 +intronic ZNF365 chr10 64219575 64219575 T G het . 20 +intronic ZNF365 chr10 64360787 64360787 T C het . 2 +intronic ZNF365 chr10 64429757 64429757 A T het . 2 +intronic JMJD1C chr10 64936361 64936361 G A het . 9 +intronic JMJD1C chr10 64953311 64953311 G A het . 12 +intronic JMJD1C chr10 65187018 65187018 C T het . 2 +ncRNA_exonic JMJD1C-AS1 chr10 65225899 65225899 - GGCGGC het . 2 +intronic REEP3 chr10 65349006 65349006 C G het . 1 +intronic REEP3 chr10 65357681 65357681 C A het . 8 +intronic REEP3 chr10 65366124 65366124 - TCTC het . 4 +intronic REEP3 chr10 65370176 65370176 T G het . 1 +intergenic REEP3(dist=9567),ANXA2P3(dist=1190835) chr10 65394450 65394450 G A het . 14 +intergenic REEP3(dist=9570),ANXA2P3(dist=1190832) chr10 65394453 65394453 A G het . 13 +intergenic REEP3(dist=128751),ANXA2P3(dist=1071651) chr10 65513634 65513634 - AA het . 3 +intergenic REEP3(dist=128756),ANXA2P3(dist=1071646) chr10 65513639 65513639 C A het . 3 +intergenic REEP3(dist=132872),ANXA2P3(dist=1067530) chr10 65517755 65517755 G T het . 1 +intergenic REEP3(dist=273056),ANXA2P3(dist=927346) chr10 65657939 65657939 T A het . 2 +intergenic REEP3(dist=277253),ANXA2P3(dist=923149) chr10 65662136 65662136 T - het . 11 +intergenic REEP3(dist=277268),ANXA2P3(dist=923134) chr10 65662151 65662151 A G het . 7 +intergenic REEP3(dist=365025),ANXA2P3(dist=835377) chr10 65749908 65749908 C A het . 23 +intergenic REEP3(dist=377076),ANXA2P3(dist=823326) chr10 65761959 65761959 G A het . 2 +intergenic REEP3(dist=435694),ANXA2P3(dist=764708) chr10 65820577 65820577 T C het . 2 +intergenic REEP3(dist=504188),ANXA2P3(dist=696214) chr10 65889071 65889071 G A het . 1 +intergenic REEP3(dist=561217),ANXA2P3(dist=639185) chr10 65946100 65946100 G C het . 1 +intergenic REEP3(dist=993071),ANXA2P3(dist=207331) chr10 66377954 66377954 T C het . 2 +intergenic REEP3(dist=993095),ANXA2P3(dist=207307) chr10 66377978 66377978 G T het . 1 +intergenic REEP3(dist=1023372),ANXA2P3(dist=177030) chr10 66408255 66408255 T A het . 2 +intergenic LOC101928887(dist=111969),LINC01515(dist=534938) chr10 66796245 66796245 C A het . 2 +intergenic LOC101928887(dist=111985),LINC01515(dist=534922) chr10 66796261 66796261 T A het . 2 +intergenic LOC101928887(dist=158958),LINC01515(dist=487949) chr10 66843234 66843234 G A het . 1 +intergenic LOC101928887(dist=168639),LINC01515(dist=478268) chr10 66852915 66852915 A - het . 2 +intergenic LOC101928887(dist=218568),LINC01515(dist=428339) chr10 66902844 66902844 G T het . 2 +intergenic LOC101928887(dist=334365),LINC01515(dist=312542) chr10 67018641 67018641 A G het . 2 +intergenic LOC101928887(dist=499652),LINC01515(dist=147255) chr10 67183928 67183928 G T het . 1 +ncRNA_intronic LINC01515 chr10 67405351 67405351 A C het . 3 +ncRNA_intronic LINC01515 chr10 67429550 67429550 T G het . 3 +intergenic LINC01515(dist=1613),CTNNA3(dist=144364) chr10 67527912 67527912 C A het . 2 +intronic CTNNA3 chr10 68120665 68120665 C G het . 7 +intronic CTNNA3 chr10 68120667 68120667 C G het . 7 +intronic CTNNA3 chr10 68120687 68120687 - TC het . 4 +intronic CTNNA3 chr10 68177328 68177328 A T het . 1 +intronic CTNNA3 chr10 68196248 68196248 T C het . 2 +intronic CTNNA3 chr10 68287030 68287030 T G het . 1 +intronic CTNNA3 chr10 68298208 68298208 G T het . 1 +intronic CTNNA3 chr10 68298228 68298228 G C het . 2 +intronic CTNNA3 chr10 68307105 68307105 C T het . 2 +intronic CTNNA3 chr10 68392588 68392588 C T het . 2 +intronic CTNNA3 chr10 68414128 68414128 C T het . 2 +intronic CTNNA3 chr10 68526198 68526198 G T het . 8 +intronic CTNNA3 chr10 68535082 68535082 - T het . 3 +exonic LRRTM3 chr10 68688050 68688050 G A het . 20 +intronic CTNNA3 chr10 69360576 69360576 C A het . 1 +intronic SIRT1 chr10 69645359 69645359 T - het . 2 +intronic HERC4 chr10 69750789 69750789 A - het . 16 +intronic HERC4 chr10 69755112 69755112 - CTAT het . 9 +intronic MYPN chr10 69876329 69876329 C A het . 4 +intronic MYPN chr10 69934889 69934889 A - het . 8 +intronic MYPN chr10 69934898 69934898 A T het . 8 +UTR3 MYPN(NM_001256267:c.*683G>C,NM_001256268:c.*683G>C,NM_032578:c.*683G>C) chr10 69970895 69970895 G C het . 36 +UTR3 MYPN(NM_001256267:c.*1120T>C,NM_001256268:c.*1120T>C,NM_032578:c.*1120T>C) chr10 69971332 69971332 T C het . 23 +intronic PBLD chr10 70069164 70069173 AAAAAAAAAA - het . 2 +intronic RUFY2 chr10 70136500 70136500 C A het . 10 +intronic RUFY2 chr10 70166452 70166452 C G het . 2 +intronic SLC25A16 chr10 70271774 70271774 T C het . 1 +intergenic SLC25A16(dist=17102),TET1(dist=15735) chr10 70304382 70304382 G T het . 36 +intergenic SLC25A16(dist=17473),TET1(dist=15363) chr10 70304753 70304754 GC TT het . 3 +intergenic SLC25A16(dist=18622),TET1(dist=14215) chr10 70305902 70305902 C T het . 2 +intergenic SLC25A16(dist=18633),TET1(dist=14204) chr10 70305913 70305913 G T het . 2 +intronic TET1 chr10 70367206 70367206 C T het . 2 +intronic TET1 chr10 70373696 70373696 A - het . 4 +intronic TET1 chr10 70373719 70373719 T G het . 5 +exonic TET1 chr10 70405539 70405539 A G het . 25 +exonic TET1 chr10 70405541 70405541 A G het . 25 +intronic TET1 chr10 70441833 70441833 C G het . 2 +intronic TET1 chr10 70442869 70442869 A - het . 2 +intergenic TET1(dist=16243),CCAR1(dist=10419) chr10 70470482 70470482 A C het . 4 +intronic CCAR1 chr10 70508874 70508874 T C het . 16 +exonic CCAR1 chr10 70509285 70509286 GA - het . 11 +intronic CCAR1 chr10 70514601 70514601 G T het . 10 +intronic CCAR1 chr10 70520637 70520639 AAA - het . 3 +intronic STOX1 chr10 70601557 70601557 T C het . 1 +exonic STOX1 chr10 70644261 70644261 C A het . 24 +intronic DDX50 chr10 70685946 70685946 T A het . 4 +intronic DDX50 chr10 70696009 70696009 T C het . 4 +intronic DDX21 chr10 70734589 70734589 T A het . 4 +intronic DDX21 chr10 70734599 70734599 A T het . 5 +exonic DDX21 chr10 70737421 70737421 C T het . 11 +intronic DDX21 chr10 70741550 70741550 T C het . 5 +intronic SUPV3L1 chr10 70947283 70947283 C A het . 6 +intronic SUPV3L1 chr10 70950988 70950988 - T het . 3 +intronic SUPV3L1 chr10 70957525 70957525 G A het . 2 +intronic HKDC1 chr10 70998738 70998738 G A het . 6 +exonic HKDC1 chr10 71010375 71010375 C T het . 16 +intronic HK1 chr10 71050310 71050310 T A het . 1 +intronic HK1 chr10 71055449 71055449 T - het . 20 +exonic TACR2 chr10 71168685 71168685 A T het . 4 +intronic TSPAN15 chr10 71244832 71244832 C A het . 3 +intergenic TSPAN15(dist=14795),NEUROG3(dist=49571) chr10 71282220 71282220 A G het . 1 +intergenic TSPAN15(dist=24246),NEUROG3(dist=40117) chr10 71291671 71291674 AAAC - het . 2 +intergenic TSPAN15(dist=24272),NEUROG3(dist=40094) chr10 71291697 71291697 A - het . 2 +intergenic TSPAN15(dist=31731),NEUROG3(dist=32635) chr10 71299156 71299156 A G het . 1 +intergenic TSPAN15(dist=31734),NEUROG3(dist=32632) chr10 71299159 71299159 G A het . 1 +intergenic TSPAN15(dist=38331),NEUROG3(dist=26035) chr10 71305756 71305756 C A het . 3 +intronic FAM241B chr10 71392501 71392501 G C het . 3 +intergenic FAM241B(dist=92273),COL13A1(dist=76016) chr10 71485628 71485628 C T het . 1 +intronic COL13A1 chr10 71571857 71571857 T G het . 2 +intronic COL13A1 chr10 71571862 71571863 TG CA het . 2 +intronic COL13A1 chr10 71589988 71589988 C T het . 2 +intronic COL13A1 chr10 71637905 71637905 C A het . 4 +intronic COL13A1 chr10 71649309 71649309 A G het . 6 +intronic H2AFY2 chr10 71851430 71851431 AA - het . 2 +intronic H2AFY2 chr10 71868763 71868763 G A het . 11 +downstream TYSND1(dist=894) chr10 71896843 71896843 C T het . 2 +intronic SAR1A chr10 71923979 71923979 A - het . 2 +intronic NPFFR1 chr10 72020624 72020624 T G het . 2 +intronic NPFFR1 chr10 72031893 72031893 T G het . 3 +intronic NPFFR1 chr10 72031947 72031950 GAAA - het . 2 +intronic NPFFR1 chr10 72031994 72032000 AAGAAAG - het . 2 +intergenic LRRC20(dist=7982),EIF4EBP2(dist=13473) chr10 72150388 72150388 - A het . 3 +intronic NODAL chr10 72197203 72197203 A C het . 3 +UTR3 PRF1(NM_001083116:c.*96G>A,NM_005041:c.*96G>A) chr10 72357713 72357713 C T het . 3 +UTR3 PRF1(NM_001083116:c.*89C>T,NM_005041:c.*89C>T) chr10 72357720 72357720 G A het . 4 +intronic TBATA chr10 72532037 72532037 C T het . 22 +intergenic TBATA(dist=13213),SGPL1(dist=17316) chr10 72558388 72558388 C T het . 2 +intronic SGPL1 chr10 72579159 72579159 G A het . 2 +intronic SGPL1 chr10 72617280 72617280 C A het . 9 +intronic SGPL1 chr10 72629546 72629546 T G het . 2 +intergenic LOC105378349(dist=208329),UNC5B(dist=48565) chr10 72923727 72923727 G A het . 2 +intronic UNC5B chr10 73039860 73039860 C T het . 2 +intronic CDH23 chr10 73215525 73215525 A G het . 1 +intronic CDH23 chr10 73314122 73314122 T - het . 2 +intronic CDH23,VSIR chr10 73515103 73515103 G T het . 3 +exonic CDH23 chr10 73537978 73537978 C T het . 10 +intronic CDH23 chr10 73538896 73538896 T A het . 2 +exonic CDH23 chr10 73558952 73558952 C T het . 22 +exonic CDH23 chr10 73565712 73565712 G A het . 18 +UTR3 PSAP(NM_002778:c.*891G>A,NM_001042466:c.*891G>A,NM_001042465:c.*891G>A) chr10 73576307 73576307 C T het . 4 +intronic PSAP chr10 73583566 73583566 C A het . 20 +intronic PSAP chr10 73583573 73583573 - A het . 16 +UTR5 PSAP(NM_002778:c.-66G>T,NM_001042466:c.-66G>T,NM_001042465:c.-66G>T) chr10 73611044 73611044 C A het . 8 +intronic CHST3 chr10 73765773 73765773 T G het . 13 +intergenic CHST3(dist=14818),SPOCK2(dist=30651) chr10 73788140 73788141 AA - het . 3 +intergenic CHST3(dist=14832),SPOCK2(dist=30638) chr10 73788154 73788154 A G het . 3 +intergenic CHST3(dist=30704),SPOCK2(dist=14766) chr10 73804026 73804026 A - het . 3 +intronic ASCC1 chr10 73942803 73942803 T - het . 3 +intronic ASCC1 chr10 73947660 73947660 G A het . 1 +intronic ASCC1 chr10 73963045 73963047 AAA - het . 8 +intronic ASCC1 chr10 73970451 73970451 G T het . 6 +intronic MICU1 chr10 74235771 74235771 G A het . 2 +intronic MICU1 chr10 74373971 74373971 T A het . 2 +intronic MICU1 chr10 74383133 74383133 - A het . 2 +intergenic MICU1(dist=32285),MCU(dist=33655) chr10 74418234 74418234 T G het . 3 +intronic MCU chr10 74482123 74482123 T C het . 3 +intronic MCU chr10 74517353 74517353 - T het . 2 +intronic MCU chr10 74556455 74556455 - G het . 2 +intergenic PLA2G12B(dist=22187),P4HA1(dist=30216) chr10 74736764 74736764 G T het . 2 +intronic FAM149B1 chr10 74995098 74995098 A G het . 7 +intronic ANXA7 chr10 75155545 75155545 A - het . 8 +exonic MSS51 chr10 75187955 75187955 G A het . 13 +intronic PPP3CB chr10 75238831 75238831 A C het . 6 +intergenic GLUD1P3(dist=1034),SEC24C(dist=11568) chr10 75492563 75492563 G T het . 5 +intergenic GLUD1P3(dist=5588),SEC24C(dist=7014) chr10 75497117 75497117 T - het . 12 +intronic SEC24C chr10 75522018 75522018 C T het . 2 +exonic ZSWIM8 chr10 75557648 75557648 G A het . 22 +intronic CAMK2G chr10 75612856 75612856 G A het . 7 +intronic CAMK2G chr10 75612881 75612881 T C het . 6 +exonic CAMK2G chr10 75632760 75632760 C T het . 23 +intronic C10orf55,PLAU chr10 75673731 75673731 C T het . 9 +exonic VCL chr10 75842300 75842300 C A het . 29 +intronic VCL chr10 75856866 75856866 C A het . 19 +intronic AP3M1 chr10 75889761 75889761 A - het . 15 +intronic ADK chr10 76017732 76017732 C G het . 3 +intronic ADK chr10 76130576 76130576 T A het . 1 +intronic ADK chr10 76131228 76131228 C A het . 11 +intronic ADK chr10 76131244 76131244 C T het . 14 +intronic ADK chr10 76154303 76154303 T A het . 4 +intronic ADK chr10 76219501 76219501 G A het . 2 +intronic ADK chr10 76349021 76349021 T - het . 17 +intergenic ADK(dist=35521),KAT6B(dist=81589) chr10 76504582 76504582 G T het . 2 +intergenic ADK(dist=40465),KAT6B(dist=76642) chr10 76509526 76509529 AAAC - het . 5 +intronic KAT6B chr10 76719575 76719575 C A het . 22 +intronic KAT6B chr10 76719972 76719972 A G het . 6 +intronic KAT6B chr10 76757937 76757937 A C het . 1 +intronic KAT6B chr10 76757963 76757963 T C het . 1 +intronic KAT6B chr10 76780602 76780602 G A het . 20 +intronic KAT6B chr10 76788131 76788131 C A het . 10 +exonic KAT6B chr10 76790676 76790676 C A het . 11 +intronic VDAC2 chr10 76977548 76977548 C A het . 3 +intergenic COMTD1(dist=33392),ZNF503-AS1(dist=26925) chr10 77029216 77029216 - TGA het . 12 +intergenic COMTD1(dist=53525),ZNF503-AS1(dist=6792) chr10 77049349 77049349 C T het . 3 +ncRNA_intronic ZNF503-AS1 chr10 77057983 77057983 A G het . 2 +ncRNA_intronic ZNF503-AS1 chr10 77080311 77080311 T C het . 1 +intergenic ZNF503-AS1(dist=19815),ZNF503(dist=16337) chr10 77141251 77141251 G A het . 1 +exonic ZNF503 chr10 77161100 77161100 - CCGCCTCCGCCT het . 16 +ncRNA_exonic ZNF503-AS2 chr10 77167016 77167016 C A het . 7 +intronic LRMDA chr10 77248350 77248350 G C het . 2 +intronic LRMDA chr10 77312184 77312184 C T het . 2 +intronic LRMDA chr10 77346128 77346128 A - het . 1 +intronic LRMDA chr10 77378976 77378976 G T het . 4 +intronic LRMDA chr10 77732780 77732782 CAG - het . 15 +intronic LRMDA chr10 77807139 77807139 G T het . 2 +intronic LRMDA chr10 77846647 77846647 G A het . 1 +intronic LRMDA chr10 78024361 78024361 T G het . 3 +intronic LRMDA chr10 78062571 78062571 A G het . 1 +intronic LRMDA chr10 78067934 78067934 C T het . 1 +intronic LRMDA chr10 78141411 78141411 T C het . 2 +UTR3 KCNMA1(NM_001161352:c.*2325T>A,NM_002247:c.*2325T>A,NM_001322836:c.*2325T>A,NM_001161353:c.*2325T>A,NM_001322837:c.*2325T>A,NM_001271519:c.*2325T>A) chr10 78644699 78644699 A T het . 5 +intronic KCNMA1 chr10 78868166 78868168 AAA - het . 10 +intronic KCNMA1 chr10 78992645 78992646 TT - het . 3 +intronic KCNMA1 chr10 79325126 79325126 T C het . 2 +intronic KCNMA1 chr10 79325127 79325127 - CCAAATTGCTAT het . 2 +intronic KCNMA1 chr10 79363388 79363388 G A het . 1 +intergenic KCNMA1(dist=142731),DLG5(dist=10241) chr10 79540308 79540308 A C het . 18 +intronic DLG5 chr10 79606455 79606455 A - het . 16 +intronic POLR3A chr10 79750970 79750970 G A het . 22 +intronic POLR3A chr10 79777520 79777520 C A het . 34 +intronic RPS24 chr10 79796726 79796726 G C het . 3 +intergenic LINC00595(dist=248253),ZMIZ1-AS1(dist=414860) chr10 80288223 80288223 C A het . 2 +intergenic LINC00595(dist=582386),ZMIZ1-AS1(dist=80727) chr10 80622356 80622356 C T het . 2 +intergenic LINC00595(dist=582400),ZMIZ1-AS1(dist=80713) chr10 80622370 80622370 G T het . 1 +ncRNA_intronic ZMIZ1-AS1 chr10 80762023 80762034 GAAAGAAAGAAA - het . 2 +intronic ZMIZ1 chr10 81053560 81053560 G A het . 3 +intergenic ZCCHC24(dist=22881),LOC729815(dist=37862) chr10 81228264 81228264 T C het . 2 +ncRNA_exonic LOC729815 chr10 81266411 81266411 T C het . 12 +intergenic SFTPA2(dist=20576),SFTPA1(dist=29901) chr10 81340793 81340794 AA - het . 3 +UTR3 SFTPA1(NM_005411:c.*793A>C,NM_001164645:c.*793A>C,NM_001164647:c.*793A>C,NM_001164646:c.*793A>C,NM_001093770:c.*793A>C,NM_001164644:c.*793A>C) chr10 81374662 81374662 A C het . 5 +intergenic SFTPD(dist=75831),TMEM254-AS1(dist=21297) chr10 81784692 81784692 A G het . 9 +intergenic SFTPD(dist=82822),TMEM254-AS1(dist=14306) chr10 81791683 81791683 G A het . 12 +exonic TMEM254 chr10 81841429 81841432 AAAG - het . 21 +intronic TMEM254 chr10 81847124 81847124 T C het . 2 +intergenic TMEM254(dist=12568),PLAC9(dist=27383) chr10 81864875 81864875 G A het . 2 +intergenic TMEM254(dist=12587),PLAC9(dist=27364) chr10 81864894 81864894 A G het . 2 +intergenic LINC00857(dist=5790),LOC100130698(dist=22306) chr10 81985203 81985208 CTTCTC - het . 2 +intronic SH2D4B chr10 82330136 82330136 C T het . 2 +exonic SH2D4B chr10 82363424 82363424 C A het . 15 +intronic SH2D4B chr10 82369351 82369351 C A het . 7 +intergenic LOC105378386(dist=219991),NRG3(dist=1001589) chr10 82633481 82633481 G A het . 1 +intergenic LOC105378386(dist=310520),NRG3(dist=911060) chr10 82724010 82724010 C T het . 2 +intergenic LOC105378386(dist=720474),NRG3(dist=501106) chr10 83133964 83133964 G T het . 2 +intergenic LOC105378386(dist=720483),NRG3(dist=501097) chr10 83133973 83133973 C T het . 2 +intergenic LOC105378386(dist=884069),NRG3(dist=337511) chr10 83297559 83297559 A T het . 1 +intronic NRG3 chr10 83817074 83817074 - T het . 3 +intronic NRG3 chr10 84000478 84000478 G A het . 3 +intronic NRG3 chr10 84102924 84102924 A G het . 2 +intergenic NRG3(dist=16900),LOC105378397(dist=668327) chr10 84763835 84763835 A G het . 2 +intergenic NRG3(dist=52855),LOC105378397(dist=632372) chr10 84799790 84799790 T A het . 1 +intergenic NRG3(dist=489777),LOC105378397(dist=195450) chr10 85236712 85236712 C T het . 1 +intergenic NRG3(dist=598320),LOC105378397(dist=86907) chr10 85345255 85345255 T - het . 2 +intergenic NRG3(dist=651537),LOC105378397(dist=33690) chr10 85398472 85398472 C A het . 3 +intergenic NRG3(dist=651540),LOC105378397(dist=33687) chr10 85398475 85398475 C G het . 3 +intergenic LOC105378397(dist=4798),GHITM(dist=457542) chr10 85441643 85441643 G C het . 2 +intergenic LOC105378397(dist=392791),GHITM(dist=69549) chr10 85829636 85829636 G A het . 1 +intergenic LOC105378397(dist=392796),GHITM(dist=69544) chr10 85829641 85829641 C A het . 1 +exonic CDHR1 chr10 85974236 85974236 T C het . 7 +exonic LRIT2 chr10 85981801 85981801 T G het . 4 +UTR5 LRIT2(NM_001284223:c.-55G>A,NM_001017924:c.-55G>A) chr10 85985331 85985331 C T het . 18 +intergenic CCSER2(dist=16941),LINC01519(dist=657959) chr10 86295218 86295218 T A het . 2 +intergenic CCSER2(dist=134190),LINC01519(dist=540710) chr10 86412467 86412467 G A het . 1 +intergenic CCSER2(dist=134211),LINC01519(dist=540689) chr10 86412488 86412488 G A het . 2 +intergenic CCSER2(dist=497304),LINC01519(dist=177596) chr10 86775581 86775581 G A het . 2 +intergenic LINC01519(dist=222485),LOC101929646(dist=10520) chr10 87181179 87181179 T C het . 3 +ncRNA_exonic GRID1-AS1 chr10 87365776 87365776 T C het . 2 +intronic GRID1 chr10 87547823 87547823 G - het . 2 +intergenic GRID1(dist=54362),WAPL(dist=14401) chr10 88180612 88180612 T A het . 3 +intronic WAPL chr10 88203208 88203208 T C het . 3 +intronic WAPL chr10 88220098 88220101 ACAC - het . 8 +exonic WAPL chr10 88227102 88227102 A - het . 29 +intergenic WAPL(dist=49651),OPN4(dist=83122) chr10 88331192 88331192 C T het . 2 +intergenic WAPL(dist=98293),OPN4(dist=34480) chr10 88379834 88379834 A G het . 1 +downstream OPN4(dist=399) chr10 88426615 88426615 C - het . 14 +intronic LDB3 chr10 88429787 88429787 - C het . 2 +intronic LDB3 chr10 88429789 88429789 T G het . 2 +intronic AGAP11 chr10 88734739 88734739 A G het . 2 +intronic GLUD1 chr10 88834245 88834246 AA - het . 22 +intronic GLUD1 chr10 88835690 88835690 C A het . 23 +UTR5 PAPSS2(NM_004670:c.-101_-100insGCT,NM_001015880:c.-101_-100insGCT) chr10 89419638 89419638 - GCT het . 23 +intronic PAPSS2 chr10 89422962 89422962 G A het . 1 +intronic PAPSS2 chr10 89422968 89422968 A G het . 1 +intronic PAPSS2 chr10 89472722 89472722 T - het . 8 +intronic ATAD1 chr10 89552365 89552365 A C het . 4 +intronic PTEN chr10 89653998 89653998 C A het . 13 +intronic PTEN chr10 89692726 89692726 C A het . 22 +intronic PTEN chr10 89720634 89720634 T - het . 16 +intergenic PTEN(dist=159969),RNLS(dist=141965) chr10 89891656 89891656 T C het . 1 +intronic RNLS chr10 90319445 90319445 G A het . 1 +intronic LIPJ chr10 90362308 90362311 TTTT - het . 12 +intergenic LIPJ(dist=50814),LIPF(dist=6599) chr10 90417547 90417547 G - het . 3 +intronic LIPK chr10 90496825 90496825 T G het . 2 +intronic LIPK chr10 90499608 90499608 A T het . 4 +intronic LIPK chr10 90499894 90499894 G A het . 2 +intronic LIPN chr10 90524412 90524412 A T het . 7 +intronic ANKRD22 chr10 90588154 90588154 A G het . 2 +intronic ANKRD22 chr10 90588161 90588161 C T het . 2 +exonic ACTA2 chr10 90703597 90703597 T C het . 15 +intronic ACTA2 chr10 90703716 90703716 C A het . 10 +intronic FAS chr10 90756065 90756065 C T het . 1 +intronic FAS chr10 90756146 90756146 T G het . 1 +exonic FAS chr10 90768733 90768733 A T het . 31 +intronic FAS chr10 90773771 90773771 C A het . 15 +intergenic FAS(dist=30351),MIR4679-2(dist=15923) chr10 90807169 90807169 A C het . 1 +intergenic MIR4679-2(dist=3993),CH25H(dist=138533) chr10 90827161 90827161 A G het . 2 +intergenic MIR4679-2(dist=21027),CH25H(dist=121499) chr10 90844195 90844195 G A het . 3 +intergenic MIR4679-2(dist=48425),CH25H(dist=94099) chr10 90871593 90871595 TTC - het . 1 +intergenic MIR4679-2(dist=71240),CH25H(dist=71286) chr10 90894408 90894408 T C het . 1 +intronic LIPA chr10 90982214 90982214 A C het . 21 +intronic LIPA chr10 90983404 90983404 A - het . 21 +intergenic IFIT3(dist=7017),IFIT1B(dist=30071) chr10 91107742 91107742 C T het . 1 +UTR5 IFIT1(NM_001548:c.-149_-148insTTA,NM_001270928:c.-9805_-9804insTTA,NM_001270927:c.-635_-634insTTA,NM_001270930:c.-9805_-9804insTTA,NM_001270929:c.-9805_-9804insTTA) chr10 91152321 91152321 - TTA het . 2 +exonic IFIT1 chr10 91162863 91162863 C A het . 20 +intronic IFIT5 chr10 91174674 91174674 C G het . 7 +intronic SLC16A12 chr10 91193161 91193161 G A het . 11 +intronic KIF20B chr10 91469419 91469419 C A het . 4 +intronic KIF20B chr10 91470660 91470660 T G het . 10 +exonic KIF20B chr10 91497902 91497902 - TAAAAG het . 41 +exonic KIF20B chr10 91522497 91522497 C T het . 29 +ncRNA_intronic LINC01374 chr10 91614330 91614330 G A het . 2 +intergenic LINC01375(dist=68007),LOC101926942(dist=377141) chr10 91785137 91785137 A - het . 3 +intergenic LINC01375(dist=68023),LOC101926942(dist=377125) chr10 91785153 91785153 G - het . 4 +intergenic LINC01375(dist=162922),LOC101926942(dist=282226) chr10 91880052 91880052 A G het . 2 +intergenic LINC01375(dist=228892),LOC101926942(dist=216256) chr10 91946022 91946022 T C het . 2 +intergenic LINC01375(dist=272722),LOC101926942(dist=172426) chr10 91989852 91989852 - A het . 3 +intergenic LOC101926942(dist=99171),HTR7(dist=100843) chr10 92399733 92399733 C T het . 3 +intergenic LOC101926942(dist=153107),HTR7(dist=46907) chr10 92453669 92453669 T C het . 1 +intronic HTR7 chr10 92589724 92589724 T C het . 3 +UTR3 ANKRD1(NM_014391:c.*59A>G) chr10 92672564 92672564 T C het . 19 +intronic ANKRD1 chr10 92675857 92675857 G A het . 9 +intronic ANKRD1 chr10 92678741 92678758 ATAAATAAATATATATAT - het . 36 +intronic ANKRD1 chr10 92678749 92678750 AT - het . 12 +intronic ANKRD1 chr10 92678765 92678765 A G het . 33 +ncRNA_intronic HECTD2-AS1 chr10 93170366 93170366 G - het . 7 +intergenic PPP1R3C(dist=33967),TNKS2-AS1(dist=115770) chr10 93426825 93426826 AT CG het . 3 +intronic TNKS2 chr10 93578705 93578705 C G het . 2 +intronic TNKS2 chr10 93579117 93579117 - TT het . 6 +intronic TNKS2 chr10 93579134 93579134 C A het . 7 +intronic TNKS2 chr10 93582285 93582285 G T het . 4 +intronic TNKS2 chr10 93614675 93614675 - A het . 7 +intronic BTAF1 chr10 93695407 93695407 A G het . 23 +intronic BTAF1 chr10 93754543 93754543 T G het . 2 +intronic BTAF1 chr10 93768090 93768090 T G het . 5 +intronic BTAF1 chr10 93784104 93784104 T G het . 2 +exonic CPEB3 chr10 93841227 93841227 A G het . 10 +intronic CPEB3 chr10 93871066 93871066 G A het . 6 +intronic CPEB3 chr10 93879006 93879006 A C het . 21 +intronic CPEB3 chr10 93879018 93879018 T C het . 21 +intronic CPEB3 chr10 93879022 93879022 T A het . 21 +intronic CPEB3 chr10 93879280 93879280 T G het . 2 +intronic CPEB3 chr10 93897426 93897426 C T het . 3 +intronic CPEB3 chr10 93978178 93978178 G A het . 1 +intronic MARCH5 chr10 94079419 94079419 T - het . 2 +intronic MARCH5 chr10 94110757 94110757 C A het . 17 +intergenic MARCH5(dist=11707),MARK2P9(dist=52990) chr10 94125428 94125428 T G het . 2 +intronic IDE chr10 94215433 94215433 C A het . 13 +intronic IDE chr10 94215457 94215457 - A het . 6 +intronic IDE chr10 94267433 94267433 A G het . 23 +intronic KIF11 chr10 94366347 94366347 - TT het . 6 +intronic KIF11 chr10 94388745 94388745 T - het . 7 +intergenic KIF11(dist=30791),HHEX(dist=3738) chr10 94445943 94445943 T C het . 1 +intronic EXOC6 chr10 94608477 94608477 C A het . 2 +intronic EXOC6 chr10 94643646 94643646 C T het . 2 +intronic EXOC6 chr10 94666816 94666816 A G het . 1 +intronic EXOC6 chr10 94700461 94700462 TT - het . 13 +intronic EXOC6 chr10 94712814 94712814 G T het . 4 +intronic EXOC6 chr10 94758961 94758962 TT - het . 8 +intronic EXOC6 chr10 94773927 94773927 - T het . 10 +intergenic CYP26A1(dist=91659),MYOF(dist=136886) chr10 94929300 94929300 T C het . 2 +intergenic CYP26A1(dist=113793),MYOF(dist=114752) chr10 94951434 94951434 C A het . 2 +intergenic CYP26A1(dist=129091),MYOF(dist=99454) chr10 94966732 94966732 A C het . 23 +intergenic CYP26A1(dist=130321),MYOF(dist=98224) chr10 94967962 94967962 G A het . 3 +intergenic CYP26A1(dist=198003),MYOF(dist=30542) chr10 95035644 95035644 A G het . 4 +intergenic CYP26A1(dist=206075),MYOF(dist=22467) chr10 95043716 95043719 TTTT - het . 9 +intronic MYOF chr10 95068000 95068000 A - het . 2 +intronic MYOF chr10 95083205 95083208 TTTC - het . 4 +intronic MYOF chr10 95089303 95089303 - CTAA het . 2 +intronic MYOF chr10 95089312 95089312 T C het . 2 +intronic MYOF chr10 95095600 95095600 G C het . 5 +intronic MYOF chr10 95099822 95099822 G C het . 17 +intronic MYOF chr10 95099849 95099849 G A het . 12 +intronic MYOF chr10 95109789 95109789 G A het . 9 +intronic MYOF chr10 95152572 95152572 A C het . 7 +intronic MYOF chr10 95215091 95215091 C A het . 3 +intronic MYOF chr10 95237963 95237963 A G het . 18 +UTR5 MYOF(NM_013451:c.-48T>G,NM_133337:c.-48T>G) chr10 95241999 95241999 A C het . 15 +intronic CEP55 chr10 95267753 95267753 G A het . 1 +intronic CEP55 chr10 95282038 95282038 A G het . 2 +intronic CEP55 chr10 95287644 95287644 A - het . 15 +intronic PDE6C chr10 95405525 95405525 - TT het . 4 +intronic PDE6C chr10 95415368 95415371 AAAA - het . 8 +intronic PDE6C chr10 95415396 95415396 C A het . 7 +intronic PDE6C chr10 95418449 95418449 G C het . 5 +intronic LGI1 chr10 95549836 95549836 - T het . 14 +intergenic LGI1(dist=18110),SLC35G1(dist=77685) chr10 95576041 95576042 AG - het . 2 +ncRNA_exonic PIPSL chr10 95721367 95721367 C G het . 4 +intergenic PIPSL(dist=16091),PLCE1(dist=15983) chr10 95737763 95737763 A G het . 2 +intergenic PIPSL(dist=20648),PLCE1(dist=11426) chr10 95742320 95742320 - CTCT het . 1 +intergenic PIPSL(dist=20661),PLCE1(dist=11413) chr10 95742333 95742333 G C het . 2 +exonic PLCE1 chr10 95791518 95791518 G A het . 25 +intronic PLCE1 chr10 95988936 95988936 A C het . 6 +intronic PLCE1 chr10 95988958 95988958 - AA het . 3 +intronic PLCE1 chr10 95993704 95993704 A - het . 13 +intronic PLCE1 chr10 96013705 96013705 G A het . 1 +intronic PLCE1 chr10 96022619 96022619 T - het . 4 +intronic PLCE1 chr10 96025382 96025382 T - het . 32 +ncRNA_intronic PLCE1-AS1 chr10 96044913 96044913 G A het . 7 +intronic PLCE1 chr10 96081561 96081561 A G het . 15 +exonic PLCE1 chr10 96084198 96084198 C A het . 44 +intronic PLCE1 chr10 96084372 96084372 - T het . 20 +intronic NOC3L chr10 96100119 96100119 C T het . 17 +intronic NOC3L chr10 96112579 96112579 A - het . 7 +intronic TBC1D12 chr10 96201821 96201821 - TTC het . 1 +intronic TBC1D12 chr10 96267725 96267725 C A het . 3 +upstream HELLS(dist=20) chr10 96305504 96305504 T C het . 3 +intronic CYP2C18 chr10 96464087 96464087 A T het . 1 +intronic CYP2C18 chr10 96471627 96471627 C A het . 2 +intergenic CYP2C19(dist=77094),CYP2C9(dist=6013) chr10 96692402 96692402 G A het . 2 +intergenic CYP2C9(dist=27731),CYP2C8(dist=19650) chr10 96776879 96776879 A T het . 1 +intronic CYP2C8 chr10 96818418 96818418 C T het . 7 +intronic CYP2C8 chr10 96824319 96824319 G C het . 5 +intergenic CYP2C8(dist=60187),ACSM6(dist=64516) chr10 96889441 96889441 A T het . 1 +intergenic CYP2C8(dist=99476),ACSM6(dist=25227) chr10 96928730 96928730 A C het . 8 +intronic ACSM6 chr10 96957929 96957929 C T het . 4 +intronic ACSM6 chr10 96960372 96960372 - AGA het . 4 +intronic ACSM6 chr10 96967298 96967298 T G het . 7 +intronic PDLIM1 chr10 96998591 96998591 G A het . 2 +intronic SORBS1 chr10 97106029 97106029 C T het . 21 +intronic SORBS1 chr10 97127264 97127264 T C het . 8 +intronic SORBS1 chr10 97154682 97154682 A T het . 7 +intronic SORBS1 chr10 97154698 97154698 G A het . 6 +intronic SORBS1 chr10 97254632 97254632 A G het . 2 +intronic SORBS1 chr10 97254636 97254636 A G het . 2 +intronic ALDH18A1 chr10 97370942 97370942 G C het . 3 +downstream TCTN3(dist=350) chr10 97422803 97422803 G A het . 3 +intronic TCTN3 chr10 97442801 97442801 A T het . 13 +intronic TCTN3 chr10 97445502 97445503 CT - het . 3 +exonic CC2D2B chr10 97763987 97763987 G A het . 14 +ncRNA_intronic ENTPD1-AS1 chr10 97779219 97779219 G A het . 2 +intergenic ENTPD1-AS1(dist=12655),ZNF518A(dist=26825) chr10 97862647 97862647 G A het . 2 +intergenic ENTPD1-AS1(dist=29642),ZNF518A(dist=9838) chr10 97879634 97879634 A C het . 3 +exonic ZNF518A chr10 97920278 97920278 T C het . 18 +intergenic ZNF518A(dist=25937),BLNK(dist=2001) chr10 97949454 97949454 - ATC het . 10 +intronic BLNK chr10 97960115 97960115 G T het . 5 +intronic BLNK chr10 97964154 97964154 C T het . 10 +intronic BLNK chr10 97964157 97964157 A G het . 9 +intronic BLNK chr10 97983951 97983951 C T het . 2 +intronic BLNK chr10 97983957 97983957 C A het . 1 +intronic BLNK chr10 97992018 97992018 T C het . 2 +intronic BLNK chr10 97992146 97992146 C T het . 2 +intronic BLNK chr10 98001491 98001491 T - het . 3 +UTR3 DNTT(NM_004088:c.*139T>C,NM_001017520:c.*139T>C) chr10 98098120 98098120 T C het . 3 +intronic OPALIN chr10 98113333 98113333 T C het . 4 +UTR5 OPALIN(NM_033207:c.-167A>C,NM_001040102:c.-167A>C,NM_001284322:c.-5608A>C,NM_001284321:c.-167A>C,NM_001284320:c.-167A>C,NM_001040103:c.-5608A>C) chr10 98118820 98118820 T G het . 14 +intronic TM9SF3 chr10 98321928 98321928 A T het . 13 +intronic PIK3AP1 chr10 98371748 98371748 A T het . 1 +intronic PIK3AP1 chr10 98388297 98388297 G A het . 10 +intergenic PIK3AP1(dist=34214),MIR607(dist=73933) chr10 98514493 98514493 C A het . 2 +intronic LCOR chr10 98615170 98615170 - T het . 10 +exonic LCOR chr10 98741296 98741296 C A het . 15 +exonic SLIT1 chr10 98806457 98806457 A T het . 11 +intronic SLIT1 chr10 98855045 98855045 - A het . 3 +intergenic ARHGAP19-SLIT1(dist=14248),FRAT1(dist=12344) chr10 99066678 99066678 C T het . 2 +intergenic ARHGAP19-SLIT1(dist=14262),FRAT1(dist=12330) chr10 99066692 99066692 A - het . 3 +exonic RRP12 chr10 99130256 99130256 A G het . 11 +exonic RRP12 chr10 99130282 99130282 T G het . 11 +exonic RRP12 chr10 99160152 99160152 A G het . 26 +UTR3 EXOSC1(NM_001318364:c.*34C>A,NM_001318363:c.*34C>A,NM_001318362:c.*34C>A,NM_016046:c.*34C>A,NM_001318366:c.*34C>A,NM_001318365:c.*34C>A) chr10 99196168 99196168 G T het . 13 +UTR3 EXOSC1(NM_001318364:c.*5C>T,NM_001318363:c.*5C>T,NM_001318362:c.*5C>T,NM_016046:c.*5C>T,NM_001318366:c.*5C>T,NM_001318365:c.*5C>T) chr10 99196197 99196197 G A het . 16 +intronic ZDHHC16 chr10 99206613 99206613 T - het . 2 +intronic MMS19 chr10 99226748 99226748 T - het . 6 +exonic MMS19 chr10 99228051 99228051 A G het . 4 +intronic MMS19 chr10 99239721 99239721 C T het . 4 +intronic MMS19 chr10 99243916 99243916 A G het . 9 +intronic UBTD1 chr10 99273772 99273772 - T het . 3 +intronic UBTD1 chr10 99287362 99287363 AG - het . 4 +intronic ANKRD2 chr10 99340978 99340978 C T het . 2 +exonic C10orf62 chr10 99350128 99350128 A G het . 28 +UTR3 HOGA1(NM_138413:c.*313A>C,NM_001134670:c.*313A>C) chr10 99371729 99371729 A C het . 2 +intronic MORN4 chr10 99376818 99376818 A C het . 1 +intronic MORN4 chr10 99376821 99376821 G T het . 1 +intronic MORN4 chr10 99376843 99376843 A C het . 3 +exonic ZFYVE27 chr10 99498296 99498296 C T het . 31 +intronic ZFYVE27 chr10 99504781 99504781 C T het . 4 +intronic ZFYVE27 chr10 99510284 99510284 T C het . 4 +intronic ZFYVE27 chr10 99516955 99516955 G A het . 3 +intronic ZFYVE27 chr10 99518810 99518810 C T het . 3 +intronic GOLGA7B chr10 99623912 99623912 C T het . 21 +intronic CRTAC1 chr10 99642731 99642731 C T het . 1 +intronic CRTAC1 chr10 99655606 99655606 G C het . 4 +intronic CRTAC1 chr10 99773442 99773442 G T het . 1 +intergenic CRTAC1(dist=60983),R3HCC1L(dist=42813) chr10 99851568 99851568 T A het . 1 +exonic R3HCC1L chr10 99968989 99968989 A G het . 14 +intronic R3HCC1L chr10 99971121 99971121 C G het . 12 +intronic R3HCC1L chr10 99973596 99973596 G A het . 1 +intronic R3HCC1L chr10 99995773 99995773 C T het . 11 +intronic HPS1 chr10 100185814 100185814 T C het . 2 +intronic HPS1 chr10 100193679 100193679 G C het . 4 +intronic HPSE2 chr10 100328892 100328892 G C het . 2 +intronic HPSE2 chr10 100340705 100340705 T - het . 2 +intronic HPSE2 chr10 100369538 100369538 C T het . 2 +intronic HPSE2 chr10 100374505 100374505 C T het . 12 +intronic HPSE2 chr10 100438689 100438689 A G het . 2 +intronic HPSE2 chr10 100481684 100481684 A - het . 10 +intronic HPSE2 chr10 100808124 100808124 A - het . 4 +intergenic HPSE2(dist=55695),CNNM1(dist=37529) chr10 101051327 101051327 A G het . 1 +intergenic GOT1(dist=87569),LINC01475(dist=8008) chr10 101278099 101278099 C T het . 2 +exonic NKX2-3 chr10 101295058 101295058 C A het . 16 +exonic NKX2-3 chr10 101295456 101295456 T G het . 11 +intergenic NKX2-3(dist=41259),SLC25A28(dist=32736) chr10 101337539 101337539 T G het . 1 +intergenic SLC25A28(dist=9679),ENTPD7(dist=29234) chr10 101389900 101389900 C T het . 2 +intronic ENTPD7 chr10 101446996 101446996 - TTTC het . 2 +intronic COX15 chr10 101480604 101480604 - AG het . 5 +intronic CUTC chr10 101493196 101493196 G A het . 2 +intronic CUTC chr10 101510105 101510105 T - het . 16 +intronic ABCC2 chr10 101559159 101559159 G A het . 21 +intronic ABCC2 chr10 101572734 101572734 C A het . 27 +intronic DNMBP chr10 101660033 101660033 G A het . 3 +intronic CHUK chr10 101977740 101977740 - T het . 22 +intronic PKD2L1 chr10 102056970 102056970 A G het . 9 +intronic PKD2L1 chr10 102056972 102056972 G T het . 9 +intronic WNT8B chr10 102238789 102238789 - T het . 14 +exonic SEC31B chr10 102262015 102262015 A G het . 16 +UTR5 HIF1AN(NM_017902:c.-70_-68del-) chr10 102295646 102295648 TTT - het . 20 +intergenic HIF1AN(dist=139357),PAX2(dist=42428) chr10 102453038 102453038 - A het . 2 +intronic PAX2 chr10 102547479 102547479 G A het . 2 +exonic PAX2 chr10 102568983 102568983 A C het . 8 +intronic PAX2 chr10 102569015 102569015 T G het . 10 +intergenic PAX2(dist=70514),SLF2(dist=12114) chr10 102660212 102660212 T - het . 3 +exonic SLF2 chr10 102684462 102684462 C A het . 26 +exonic PDZD7 chr10 102770327 102770327 A G het . 3 +intergenic LOC101927419(dist=37643),BTRC(dist=52840) chr10 103060950 103060950 A T het . 1 +intergenic LOC101927419(dist=55444),BTRC(dist=35039) chr10 103078751 103078751 G A het . 2 +intronic BTRC chr10 103124457 103124457 A C het . 1 +intronic BTRC chr10 103221871 103221873 AGG - het . 13 +intronic FBXW4 chr10 103434170 103434170 G A het . 2 +intronic FBXW4 chr10 103435992 103435992 A C het . 4 +intronic OGA chr10 103565960 103565960 G C het . 18 +intronic ARMH3 chr10 103717493 103717493 - A het . 7 +intronic ARMH3 chr10 103789677 103789677 G T het . 1 +intronic ARMH3 chr10 103806793 103806793 C G het . 2 +intergenic HPS6(dist=25260),LDB1(dist=13194) chr10 103853055 103853055 A G het . 2 +exonic PPRC1 chr10 103899659 103899659 A G het . 17 +exonic PPRC1 chr10 103908944 103908944 C T het . 4 +intergenic NOLC1(dist=15677),ELOVL3(dist=46730) chr10 103939305 103939305 G T het . 3 +intronic GBF1 chr10 104080228 104080228 A G het . 2 +intronic GBF1 chr10 104139271 104139271 C A het . 6 +exonic PSD chr10 104164452 104164452 C A het . 5 +intergenic MIR146B(dist=1898),RPARP-AS1(dist=11335) chr10 104198239 104198239 G A het . 3 +intergenic MIR146B(dist=8230),RPARP-AS1(dist=5003) chr10 104204571 104204571 C A het . 2 +intergenic MIR146B(dist=10494),RPARP-AS1(dist=2737) chr10 104206835 104206837 ATA - het . 2 +intergenic MIR146B(dist=10504),RPARP-AS1(dist=2729) chr10 104206845 104206845 T G het . 2 +intronic ACTR1A chr10 104260357 104260357 C A het . 3 +intronic ACTR1A chr10 104262288 104262288 A C het . 9 +intronic SUFU chr10 104268800 104268800 G C het . 7 +intronic SUFU chr10 104331262 104331262 - AAAC het . 4 +intronic ARL3 chr10 104468644 104468644 T A het . 2 +exonic CYP17A1 chr10 104594559 104594559 G C het . 38 +exonic CYP17A1 chr10 104594566 104594566 C A het . 34 +exonic CYP17A1 chr10 104596981 104596981 G A het . 21 +intronic CNNM2 chr10 104698523 104698523 G A het . 4 +intronic CNNM2 chr10 104831528 104831528 C T het . 15 +exonic NT5C2 chr10 104849468 104849468 G A het . 12 +intergenic NT5C2(dist=46203),RPEL1(dist=6378) chr10 104999266 104999266 A T het . 2 +intronic PDCD11 chr10 105166276 105166276 A G het . 3 +intronic PDCD11 chr10 105204454 105204454 T C het . 3 +intergenic CALHM1(dist=2785),CALHM3(dist=11128) chr10 105221433 105221433 G A het . 2 +UTR3 SH3PXD2A(NM_001365079:c.*7153delT,NM_014631:c.*7153delT) chr10 105354420 105354420 A - het . 2 +intronic SLK chr10 105727657 105727658 AG - het . 9 +intronic SLK chr10 105768158 105768158 A T het . 7 +intronic SLK chr10 105779466 105779466 C A het . 16 +intronic COL17A1 chr10 105795538 105795538 G C het . 2 +intronic COL17A1 chr10 105803080 105803080 A G het . 8 +intronic COL17A1 chr10 105817043 105817043 C T het . 7 +intronic CFAP43 chr10 105950190 105950190 T C het . 2 +intronic CFAP43 chr10 105957613 105957613 G A het . 5 +intronic CFAP43 chr10 105990648 105990648 T - het . 4 +intronic GSTO2 chr10 106055957 106055957 C A het . 2 +intronic GSTO2 chr10 106055963 106055963 C A het . 4 +intronic CFAP58 chr10 106140266 106140266 C T het . 2 +intronic CFAP58 chr10 106166416 106166416 C A het . 7 +intronic CFAP58 chr10 106207415 106207415 C T het . 4 +intronic SORCS3 chr10 106720518 106720518 C T het . 2 +intronic SORCS3 chr10 106782232 106782232 T - het . 3 +intronic SORCS3 chr10 106907320 106907320 A G het . 5 +intronic SORCS3 chr10 106907586 106907586 C G het . 3 +exonic SORCS3 chr10 107022160 107022160 G A het . 32 +intergenic SORCS3(dist=100908),LOC101927549(dist=307460) chr10 107125908 107125908 A G het . 1 +intergenic LOC101927549(dist=296236),LOC105378470(dist=23596) chr10 107876327 107876327 C A het . 2 +intergenic LOC105378470(dist=141891),SORCS1(dist=243050) chr10 108090371 108090371 C T het . 2 +intergenic LOC105378470(dist=142092),SORCS1(dist=242849) chr10 108090572 108090572 - G het . 2 +intergenic LOC105378470(dist=361740),SORCS1(dist=23201) chr10 108310220 108310220 C T het . 21 +intergenic LOC105378470(dist=361747),SORCS1(dist=23194) chr10 108310227 108310227 C G het . 21 +intronic SORCS1 chr10 108427683 108427683 A - het . 2 +intronic SORCS1 chr10 108434972 108434972 C T het . 12 +intronic SORCS1 chr10 108454377 108454377 T G het . 1 +intergenic SORCS1(dist=168208),LINC01435(dist=538661) chr10 109092674 109092674 - T het . 2 +intergenic SORCS1(dist=467374),LINC01435(dist=239495) chr10 109391840 109391840 G A het . 2 +intergenic SORCS1(dist=472569),LINC01435(dist=234300) chr10 109397035 109397035 A C het . 2 +intergenic SORCS1(dist=506888),LINC01435(dist=199981) chr10 109431354 109431354 T C het . 2 +intergenic SORCS1(dist=571944),LINC01435(dist=134925) chr10 109496410 109496410 C A het . 4 +ncRNA_intronic LINC01435 chr10 109744981 109744981 T A het . 3 +intergenic LINC01435(dist=281711),XPNPEP1(dist=1513762) chr10 110110762 110110762 C A het . 1 +intergenic LINC01435(dist=391946),XPNPEP1(dist=1403523) chr10 110220997 110221001 TTTTG - het . 2 +intergenic LINC01435(dist=1148100),XPNPEP1(dist=647373) chr10 110977151 110977151 C T het . 2 +intergenic LINC01435(dist=1260577),XPNPEP1(dist=534896) chr10 111089628 111089628 G A het . 3 +intergenic LINC01435(dist=1592462),XPNPEP1(dist=203011) chr10 111421513 111421513 G A het . 16 +intergenic LINC01435(dist=1639636),XPNPEP1(dist=155837) chr10 111468687 111468687 T C het . 5 +intergenic LINC01435(dist=1639652),XPNPEP1(dist=155821) chr10 111468703 111468703 C A het . 3 +intergenic LINC01435(dist=1688506),XPNPEP1(dist=106967) chr10 111517557 111517557 T A het . 3 +intergenic LINC01435(dist=1741371),XPNPEP1(dist=54102) chr10 111570422 111570422 T C het . 1 +intronic XPNPEP1 chr10 111635212 111635212 T C het . 3 +intronic MXI1 chr10 112004563 112004564 TT - het . 8 +intergenic SMNDC1(dist=146041),DUSP5(dist=46877) chr10 112210748 112210748 T A het . 4 +intergenic SMNDC1(dist=146308),DUSP5(dist=46610) chr10 112211015 112211015 A C het . 3 +exonic DUSP5 chr10 112266822 112266823 GC AT het . 23 +intronic SMC3 chr10 112333166 112333166 - TAT het . 6 +intronic SMC3 chr10 112333333 112333333 - TGT het . 20 +intronic SMC3 chr10 112337744 112337744 C A het . 18 +intronic SMC3 chr10 112337755 112337755 C A het . 15 +intronic SMC3 chr10 112337841 112337841 C T het . 5 +intronic SMC3 chr10 112341487 112341487 C A het . 10 +intronic SMC3 chr10 112346542 112346542 T C het . 3 +intronic SMC3 chr10 112356331 112356331 G A het . 17 +intronic RBM20 chr10 112520856 112520863 AAAAAAAA - het . 2 +exonic RBM20 chr10 112581319 112581319 C A het . 13 +intronic RBM20 chr10 112582349 112582349 T G het . 3 +intronic PDCD4 chr10 112657654 112657654 T - het . 9 +intergenic ADRA2A(dist=79876),GPAM(dist=989084) chr10 112920538 112920538 G T het . 2 +intergenic ADRA2A(dist=79880),GPAM(dist=989080) chr10 112920542 112920542 G T het . 2 +intergenic ADRA2A(dist=184976),GPAM(dist=883984) chr10 113025638 113025638 G A het . 2 +intergenic ADRA2A(dist=488435),GPAM(dist=580525) chr10 113329097 113329097 G A het . 2 +intronic GPAM chr10 113915574 113915574 - A het . 5 +intronic GPAM chr10 113926012 113926012 G A het . 3 +intronic GPAM chr10 113928903 113928903 A C het . 10 +intronic GPAM chr10 113933416 113933416 C A het . 25 +upstream TECTB(dist=43) chr10 114043371 114043371 T C het . 4 +intronic ACSL5 chr10 114164427 114164428 TC - het . 6 +intronic ZDHHC6 chr10 114197982 114197982 A T het . 7 +intronic VTI1A chr10 114226594 114226594 - G het . 2 +intronic TCF7L2 chr10 114872667 114872667 G A het . 2 +intronic TCF7L2 chr10 114917755 114917755 C A het . 15 +intergenic TCF7L2(dist=121944),HABP2(dist=261210) chr10 115049380 115049380 G A het . 10 +intronic HABP2 chr10 115343287 115343287 C T het . 4 +intronic NRAP chr10 115380484 115380484 A - het . 2 +exonic NRAP chr10 115381747 115381747 G A het . 12 +intronic NRAP chr10 115423391 115423391 C T het . 3 +exonic CCDC186 chr10 115884926 115884926 T C het . 19 +intronic CCDC186 chr10 115889872 115889872 A G het . 4 +intronic TDRD1 chr10 115965882 115965882 T C het . 7 +intronic TDRD1 chr10 115985615 115985615 - A het . 2 +exonic AFAP1L2 chr10 116085784 116085784 - CCG het . 10 +intronic AFAP1L2 chr10 116120808 116120808 G A het . 1 +intergenic AFAP1L2(dist=17604),ABLIM1(dist=8728) chr10 116182141 116182141 G T het . 2 +intronic ABLIM1 chr10 116203974 116203974 A G het . 13 +intronic ABLIM1 chr10 116221582 116221582 C A het . 2 +intronic ABLIM1 chr10 116251649 116251649 A G het . 8 +intronic ABLIM1 chr10 116467693 116467693 C A het . 9 +intronic ABLIM1 chr10 116484809 116484809 C A het . 2 +intergenic LOC101927692(dist=16794),FAM160B1(dist=25047) chr10 116556456 116556456 G T het . 2 +intronic ATRNL1 chr10 116907961 116907961 T C het . 3 +intronic ATRNL1 chr10 116920035 116920035 T - het . 7 +exonic ATRNL1 chr10 116931101 116931101 - TT het . 1 +intronic ATRNL1 chr10 117117527 117117527 G A het . 4 +intronic ATRNL1 chr10 117168076 117168076 A G het . 1 +intronic ATRNL1 chr10 117188592 117188592 T A het . 3 +intronic ATRNL1 chr10 117243729 117243729 A C het . 4 +intronic ATRNL1 chr10 117522471 117522471 G A het . 2 +intronic ATRNL1 chr10 117523319 117523319 G T het . 2 +intronic GFRA1 chr10 117856380 117856385 GCACAC - het . 8 +exonic GFRA1 chr10 117884950 117884950 G A het . 16 +intronic GFRA1 chr10 117886597 117886597 G A het . 2 +intronic GFRA1 chr10 117953578 117953580 TAA - het . 2 +intronic PNLIPRP3 chr10 118199150 118199150 G A het . 21 +intronic PNLIPRP3 chr10 118236576 118236576 T - het . 9 +intergenic PNLIPRP3(dist=50432),PNLIP(dist=17536) chr10 118287900 118287900 G A het . 2 +intronic PNLIP chr10 118314597 118314597 C T het . 4 +intronic PNLIPRP1 chr10 118368470 118368474 AAACC - het . 12 +intronic PNLIPRP1 chr10 118368494 118368498 CAAAA - het . 12 +intronic PNLIPRP2 chr10 118380511 118380511 A G het . 5 +intronic PNLIPRP2 chr10 118390025 118390025 T C het . 2 +intronic PNLIPRP2 chr10 118396278 118396278 G T het . 2 +intronic HSPA12A chr10 118605843 118605843 T - het . 2 +intronic ENO4 chr10 118620733 118620733 A - het . 2 +intronic SHTN1 chr10 118728358 118728358 - ATGGTCAT het . 18 +intronic SHTN1 chr10 118779465 118779465 A G het . 1 +intronic SHTN1 chr10 118789829 118789829 C A het . 2 +intronic VAX1 chr10 118891993 118891993 A - het . 16 +intronic KCNK18 chr10 118962397 118962397 C T het . 3 +intronic SLC18A2 chr10 119014023 119014023 C T het . 4 +intronic PDZD8 chr10 119064951 119064952 AC - het . 2 +intergenic PDZD8(dist=62201),EMX2OS(dist=46625) chr10 119197179 119197179 C T het . 2 +ncRNA_intronic EMX2OS chr10 119271618 119271618 T C het . 2 +intergenic EMX2(dist=266218),RAB11FIP2(dist=189152) chr10 119575275 119575275 G T het . 1 +exonic RAB11FIP2 chr10 119768551 119768551 C T het . 23 +intergenic CASC2(dist=82747),FAM204A(dist=16160) chr10 120052412 120052412 T - het . 4 +intergenic CASC2(dist=82771),FAM204A(dist=16136) chr10 120052436 120052436 T C het . 5 +intergenic LINC00867(dist=20235),PRLHR(dist=213966) chr10 120138950 120138950 T - het . 2 +intergenic LINC00867(dist=54561),PRLHR(dist=179640) chr10 120173276 120173276 T C het . 1 +intergenic LINC00867(dist=131843),PRLHR(dist=102358) chr10 120250558 120250558 T C het . 1 +intergenic LINC00867(dist=149160),PRLHR(dist=85041) chr10 120267875 120267875 A C het . 2 +intergenic PRLHR(dist=35351),CACUL1(dist=49983) chr10 120390511 120390511 - AT het . 3 +intronic CACUL1 chr10 120453070 120453070 C A het . 5 +intergenic CACUL1(dist=136721),NANOS1(dist=137749) chr10 120651479 120651479 - A het . 2 +intergenic CACUL1(dist=138199),NANOS1(dist=136271) chr10 120652957 120652957 C T het . 3 +intronic EIF3A chr10 120803746 120803746 T C het . 6 +intronic EIF3A chr10 120831945 120831954 GTTTTGTTTT - het . 7 +intergenic EIF3A(dist=7578),FAM45A(dist=15603) chr10 120847974 120847974 T C het . 2 +ncRNA_intronic FAM45BP chr10 120865187 120865187 T A het . 3 +intronic SFXN4 chr10 120900977 120900977 T - het . 5 +intronic SFXN4 chr10 120917269 120917269 A T het . 13 +intronic SFXN4 chr10 120920536 120920536 C A het . 37 +intronic PRDX3 chr10 120933901 120933901 T C het . 6 +intronic RGS10 chr10 121285664 121285664 T G het . 12 +intronic RGS10 chr10 121285672 121285672 A - het . 13 +intronic RGS10 chr10 121287019 121287019 G A het . 6 +upstream RGS10(dist=22) chr10 121302244 121302244 G A het . 7 +intronic TIAL1 chr10 121347840 121347843 TTTC - het . 6 +intergenic TIAL1(dist=11628),BAG3(dist=42713) chr10 121368169 121368169 C A het . 3 +intergenic BAG3(dist=5157),INPP5F(dist=43073) chr10 121442486 121442486 T - het . 4 +intergenic BAG3(dist=5170),INPP5F(dist=43060) chr10 121442499 121442499 T A het . 5 +intergenic BAG3(dist=5662),INPP5F(dist=42568) chr10 121442991 121442991 G C het . 11 +intergenic BAG3(dist=5686),INPP5F(dist=42541) chr10 121443015 121443018 AAAC - het . 9 +intronic SEC23IP chr10 121674000 121674000 A G het . 4 +intronic SEC23IP chr10 121674010 121674010 A G het . 4 +intronic SEC23IP chr10 121692777 121692777 A G het . 5 +intergenic MIR4682(dist=14395),PLPP4(dist=483967) chr10 121732499 121732499 A G het . 2 +intergenic MIR4682(dist=14590),PLPP4(dist=483772) chr10 121732694 121732694 A G het . 2 +intergenic MIR4682(dist=130585),PLPP4(dist=367777) chr10 121848689 121848689 C T het . 4 +intergenic MIR4682(dist=181685),PLPP4(dist=316677) chr10 121899789 121899789 T - het . 2 +intergenic MIR4682(dist=242623),PLPP4(dist=255739) chr10 121960727 121960727 T C het . 1 +intergenic MIR4682(dist=286287),PLPP4(dist=212075) chr10 122004391 122004391 G T het . 2 +intergenic MIR4682(dist=419566),PLPP4(dist=78796) chr10 122137670 122137670 C T het . 2 +intergenic PLPP4(dist=4484),LINC01561(dist=3601) chr10 122353860 122353860 G A het . 1 +intergenic LINC01561(dist=111131),WDR11-AS1(dist=50558) chr10 122470766 122470766 G A het . 2 +intergenic LINC01561(dist=153280),WDR11-AS1(dist=8409) chr10 122512915 122512915 C T het . 4 +ncRNA_intronic WDR11-AS1 chr10 122602417 122602417 G A het . 2 +intronic WDR11 chr10 122624869 122624869 - T het . 9 +intronic WDR11 chr10 122626953 122626953 A G het . 3 +intronic WDR11 chr10 122631007 122631007 A - het . 3 +intronic WDR11 chr10 122633086 122633086 A T het . 4 +intronic WDR11 chr10 122665255 122665255 C A het . 17 +intronic WDR11 chr10 122665285 122665285 A C het . 21 +UTR3 WDR11(NM_018117:c.*128_*129insAAGA) chr10 122668353 122668353 - AAGA het . 2 +intergenic WDR11(dist=114534),FGFR2(dist=454270) chr10 122783572 122783574 AAA - het . 3 +intergenic WDR11(dist=114886),FGFR2(dist=453920) chr10 122783924 122783924 A C het . 2 +intergenic WDR11(dist=247104),FGFR2(dist=321702) chr10 122916142 122916142 T C het . 1 +intergenic WDR11(dist=291065),FGFR2(dist=277741) chr10 122960103 122960103 A T het . 3 +intergenic WDR11(dist=425974),FGFR2(dist=142832) chr10 123095012 123095012 C T het . 1 +intronic FGFR2 chr10 123246612 123246612 G A het . 4 +intronic FGFR2 chr10 123260302 123260302 A C het . 9 +splicing FGFR2(NM_001144918:exon4:c.403+2T>C,NM_001144916:exon3:c.403+2T>C,NM_001144915:exon5:c.481+2T>C,NM_001144914:exon5:c.748+2T>C,NM_001320658:exon6:c.748+2T>C,NM_001144917:exon6:c.748+2T>C,NM_022970:exon6:c.748+2T>C,NM_023029:exon4:c.481+2T>C,NM_000141:exon6:c.748+2T>C,NM_001144913:exon5:c.748+2T>C,NM_001144919:exon5:c.481+2T>C) chr10 123298104 123298104 A G het . 44 +UTR5 FGFR2(NM_001144918:c.-4230G>A,NM_001320658:c.-4230G>A,NM_001144917:c.-4230G>A,NM_022970:c.-4230G>A,NM_000141:c.-4230G>A,NM_001144919:c.-4230G>A) chr10 123357561 123357561 C T het . 1 +intronic ATE1 chr10 123519351 123519351 C A het . 1 +intronic ATE1 chr10 123581092 123581092 T C het . 2 +intronic ATE1 chr10 123611136 123611136 G C het . 1 +intronic ATE1 chr10 123615592 123615592 A - het . 2 +intronic ATE1 chr10 123615616 123615616 G A het . 3 +intronic NSMCE4A chr10 123730354 123730354 A T het . 2 +intronic TACC2 chr10 123792487 123792487 - AAC het . 5 +intronic TACC2 chr10 123792528 123792528 C - het . 4 +exonic TACC2 chr10 123844894 123844894 G A het . 19 +intronic TACC2 chr10 123873749 123873749 G A het . 1 +intronic TACC2 chr10 123873772 123873772 C T het . 1 +intronic TACC2 chr10 123907107 123907107 T G het . 1 +intronic TACC2 chr10 123912338 123912338 G A het . 1 +exonic TACC2 chr10 123970308 123970308 C A het . 20 +UTR3 TACC2(NM_001291877:c.*8C>A,NM_001291876:c.*8C>A,NM_206862:c.*8C>A,NM_206861:c.*8C>A,NM_001291879:c.*8C>A,NM_001291878:c.*8C>A,NM_006997:c.*8C>A,NM_206860:c.*8C>A) chr10 124013579 124013579 C A het . 23 +UTR3 TACC2(NM_001291877:c.*33C>A,NM_001291876:c.*33C>A,NM_206862:c.*33C>A,NM_206861:c.*33C>A,NM_001291879:c.*33C>A,NM_001291878:c.*33C>A,NM_006997:c.*33C>A,NM_206860:c.*33C>A) chr10 124013604 124013604 C A het . 17 +intronic HTRA1 chr10 124267019 124267019 T G het . 16 +intronic HTRA1 chr10 124271647 124271647 G A het . 22 +intronic DMBT1 chr10 124330240 124330240 A G het . 2 +intronic DMBT1 chr10 124330252 124330252 A G het . 4 +intronic DMBT1 chr10 124333308 124333308 G A het . 14 +intronic DMBT1 chr10 124385435 124385435 - T het . 24 +exonic DMBT1 chr10 124389888 124389888 C A het . 30 +exonic DMBT1 chr10 124396645 124396645 C A het . 9 +intronic C10orf120 chr10 124458735 124458735 G T het . 6 +ncRNA_intronic DMBT1P1 chr10 124529089 124529089 T - het . 2 +ncRNA_intronic DMBT1P1 chr10 124529097 124529097 T G het . 2 +ncRNA_intronic FAM24B-CUZD1 chr10 124595875 124595875 A - het . 7 +exonic CUZD1 chr10 124596944 124596944 A G het . 17 +ncRNA_intronic LOC399815 chr10 124653996 124653996 T C het . 1 +upstream ACADSB,IKZF5(dist=137) chr10 124768292 124768292 G A het . 4 +exonic ACADSB chr10 124768583 124768583 G A het . 20 +intronic ACADSB chr10 124799873 124799875 AAT - het . 12 +intronic ACADSB chr10 124810746 124810746 - T het . 2 +intronic ACADSB chr10 124812686 124812686 T - het . 24 +UTR3 ACADSB(NM_001609:c.*2953G>A,NM_001330174:c.*2953G>A) chr10 124816234 124816234 G A het . 3 +exonic HMX2 chr10 124908047 124908049 GGA - het . 11 +intergenic BUB3(dist=90551),GPR26(dist=410434) chr10 125015437 125015437 C T het . 2 +intergenic BUB3(dist=96867),GPR26(dist=404118) chr10 125021753 125021753 A - het . 3 +intergenic BUB3(dist=237307),GPR26(dist=263678) chr10 125162193 125162193 G A het . 1 +intergenic BUB3(dist=336037),GPR26(dist=164948) chr10 125260923 125260923 A C het . 2 +intergenic BUB3(dist=429264),GPR26(dist=71721) chr10 125354150 125354150 G A het . 2 +intergenic BUB3(dist=433888),GPR26(dist=67097) chr10 125358774 125358774 - TTCTC het . 2 +exonic GPR26 chr10 125426253 125426253 C T het . 8 +intergenic GPR26(dist=3645),CPXM2(dist=44594) chr10 125460558 125460558 C T het . 2 +intergenic GPR26(dist=3662),CPXM2(dist=44577) chr10 125460575 125460575 T - het . 2 +intergenic GPR26(dist=3666),CPXM2(dist=44573) chr10 125460579 125460579 T C het . 2 +intergenic GPR26(dist=26763),CPXM2(dist=21474) chr10 125483676 125483678 AAA - het . 2 +intronic CPXM2 chr10 125633662 125633662 A C het . 6 +intronic CPXM2 chr10 125635330 125635330 T C het . 1 +intergenic CHST15(dist=89151),OAT(dist=143598) chr10 125942274 125942274 - A het . 4 +intronic OAT chr10 126086730 126086730 G A het . 14 +exonic OAT chr10 126097461 126097461 C A het . 18 +exonic NKX1-2 chr10 126136465 126136465 G C het . 6 +intronic LHPP chr10 126245435 126245435 G A het . 4 +intronic FAM53B chr10 126359833 126359833 C T het . 13 +ncRNA_intronic FAM53B-AS1 chr10 126393823 126393823 A G het . 1 +downstream EEF1AKMT2(dist=113) chr10 126446287 126446287 - A het . 2 +intronic ABRAXAS2 chr10 126505062 126505062 - A het . 8 +intergenic ABRAXAS2(dist=31407),ZRANB1(dist=74046) chr10 126556646 126556646 - TGA het . 27 +intergenic ABRAXAS2(dist=98303),ZRANB1(dist=7150) chr10 126623542 126623542 A C het . 1 +intergenic CTBP2(dist=119343),TEX36-AS1(dist=293967) chr10 126968973 126968973 T C het . 2 +intergenic CTBP2(dist=216162),TEX36-AS1(dist=197148) chr10 127065792 127065792 G T het . 2 +intronic EDRF1 chr10 127412219 127412219 C A het . 13 +intronic EDRF1 chr10 127414474 127414475 AA - het . 8 +intronic EDRF1 chr10 127441573 127441573 G T het . 9 +intronic EDRF1 chr10 127442580 127442580 T C het . 10 +intronic UROS chr10 127483397 127483397 A - het . 11 +intronic BCCIP chr10 127524148 127524148 A - het . 2 +intronic BCCIP chr10 127524156 127524156 A C het . 3 +intronic DHX32 chr10 127548587 127548587 C G het . 4 +intergenic DHX32(dist=10236),FANK1(dist=4984) chr10 127580120 127580120 G A het . 3 +intergenic DHX32(dist=10246),FANK1(dist=4974) chr10 127580130 127580130 A G het . 3 +intergenic DHX32(dist=10259),FANK1(dist=4961) chr10 127580143 127580143 T C het . 5 +intronic FANK1 chr10 127683927 127683927 C A het . 11 +intronic FANK1 chr10 127692247 127692247 - T het . 2 +intronic ADAM12 chr10 127727808 127727808 A G het . 10 +intronic ADAM12 chr10 127919050 127919050 C T het . 2 +intronic ADAM12 chr10 127954944 127954944 A T het . 2 +intronic ADAM12 chr10 127980954 127980954 G A het . 3 +intronic C10orf90 chr10 128191222 128191222 A G het . 3 +intronic C10orf90 chr10 128210825 128210825 G A het . 2 +intronic C10orf90 chr10 128210829 128210829 C T het . 2 +intronic C10orf90 chr10 128210839 128210839 - AAAC het . 2 +intronic C10orf90 chr10 128277060 128277060 C T het . 2 +intergenic C10orf90(dist=119923),DOCK1(dist=114976) chr10 128479002 128479002 C A het . 2 +intronic DOCK1 chr10 128788633 128788633 C A het . 4 +intronic DOCK1 chr10 128789805 128789805 T G het . 3 +intronic DOCK1 chr10 128822886 128822886 G A het . 6 +exonic INSYN2 chr10 128973977 128973977 G A het . 13 +intronic DOCK1,INSYN2 chr10 128974713 128974713 C T het . 1 +intronic DOCK1,INSYN2 chr10 128974716 128974716 A G het . 1 +intronic DOCK1 chr10 129219165 129219165 A G het . 2 +UTR3 DOCK1(NM_001380:c.*796G>T,NM_001290223:c.*796G>T) chr10 129250487 129250487 G T het . 1 +UTR3 DOCK1(NM_001380:c.*806C>T,NM_001290223:c.*806C>T) chr10 129250497 129250497 C T het . 2 +intergenic DOCK1(dist=49285),NPS(dist=47547) chr10 129300066 129300066 G A het . 1 +intergenic NPS(dist=144368),FOXI2(dist=40235) chr10 129495303 129495303 G T het . 4 +intergenic NPS(dist=170524),FOXI2(dist=14079) chr10 129521459 129521459 G A het . 1 +intergenic NPS(dist=170576),FOXI2(dist=14027) chr10 129521511 129521511 A T het . 2 +intergenic NPS(dist=176542),FOXI2(dist=8061) chr10 129527477 129527477 G C het . 4 +intergenic FOXI2(dist=106707),CLRN3(dist=29947) chr10 129646157 129646158 AA - het . 2 +intronic PTPRE chr10 129731923 129731923 A G het . 3 +intergenic PTPRE(dist=8294),MKI67(dist=2512) chr10 129892413 129892413 A - het . 2 +exonic MKI67 chr10 129901393 129901393 T C het . 24 +exonic MKI67 chr10 129902204 129902205 TG - het . 23 +exonic MKI67 chr10 129904477 129904477 C T het . 19 +exonic MKI67 chr10 129904663 129904663 C A het . 20 +intergenic MKI67(dist=2478),LINC01163(dist=157268) chr10 129926946 129926946 G A het . 3 +intergenic MKI67(dist=2489),LINC01163(dist=157257) chr10 129926957 129926957 A - het . 3 +intergenic MKI67(dist=73763),LINC01163(dist=85983) chr10 129998231 129998231 A G het . 1 +intergenic LINC01163(dist=49513),LOC728327(dist=545594) chr10 130165503 130165503 T G het . 1 +intergenic LOC728327(dist=271603),MGMT(dist=279368) chr10 130986137 130986137 G A het . 1 +intergenic LOC728327(dist=277332),MGMT(dist=273639) chr10 130991866 130991866 C T het . 1 +intergenic LOC728327(dist=337582),MGMT(dist=213389) chr10 131052116 131052116 - A het . 2 +intergenic LOC728327(dist=495627),MGMT(dist=55344) chr10 131210161 131210161 G A het . 1 +intronic MGMT chr10 131283573 131283573 C T het . 2 +intronic MGMT chr10 131429454 131429454 A C het . 2 +intergenic MGMT(dist=15595),EBF3(dist=48654) chr10 131584842 131584842 A G het . 1 +intergenic MGMT(dist=28715),EBF3(dist=35534) chr10 131597962 131597962 C T het . 1 +intronic EBF3 chr10 131638672 131638672 C A het . 23 +intronic EBF3 chr10 131760352 131760352 A G het . 4 +intronic C10orf143 chr10 131900215 131900215 A T het . 3 +exonic GLRX3 chr10 131958277 131958277 C T het . 22 +intronic GLRX3 chr10 131966720 131966720 T A het . 2 +intronic GLRX3 chr10 131970877 131970877 A G het . 1 +intergenic GLRX3(dist=217661),MIR378C(dist=564544) chr10 132196307 132196307 G T het . 2 +intergenic GLRX3(dist=463009),MIR378C(dist=319196) chr10 132441655 132441655 A G het . 2 +intergenic GLRX3(dist=561809),MIR378C(dist=220396) chr10 132540455 132540455 T C het . 1 +intergenic GLRX3(dist=595295),MIR378C(dist=186910) chr10 132573941 132573941 T A het . 2 +intergenic GLRX3(dist=595303),MIR378C(dist=186902) chr10 132573949 132573949 C - het . 1 +intergenic GLRX3(dist=630310),MIR378C(dist=151895) chr10 132608956 132608956 G C het . 1 +intergenic GLRX3(dist=673637),MIR378C(dist=108568) chr10 132652283 132652283 C T het . 2 +intronic TCERG1L chr10 133100872 133100872 T - het . 2 +intergenic TCERG1L(dist=121348),LINC01164(dist=373402) chr10 133231332 133231332 A - het . 3 +intergenic TCERG1L(dist=121478),LINC01164(dist=373272) chr10 133231462 133231462 G T het . 3 +ncRNA_exonic LINC01164 chr10 133608291 133608292 TT GG het . 13 +intronic JAKMIP3 chr10 133883716 133883716 T A het . 2 +intronic JAKMIP3 chr10 133911618 133911618 T C het . 2 +intronic JAKMIP3 chr10 133948439 133948439 C T het . 10 +intronic JAKMIP3 chr10 133948456 133948456 C T het . 13 +intronic JAKMIP3 chr10 133951502 133951502 A - het . 5 +intronic JAKMIP3 chr10 133951718 133951718 G A het . 14 +intronic DPYSL4 chr10 134016115 134016115 G A het . 2 +intronic STK32C chr10 134071597 134071597 T G het . 2 +intronic STK32C chr10 134080443 134080443 C A het . 1 +intronic PWWP2B chr10 134218073 134218073 G A het . 5 +exonic INPP5A chr10 134459388 134459388 A G het . 15 +exonic INPP5A chr10 134579296 134579296 A T het . 25 +intronic CFAP46 chr10 134650547 134650547 G C het . 5 +exonic CFAP46 chr10 134660468 134660468 C A het . 5 +intronic CFAP46 chr10 134691740 134691740 A G het . 2 +exonic CFAP46 chr10 134723481 134723481 A C het . 5 +splicing CFAP46(NM_001200049:exon16:c.1986+1G>A) chr10 134731896 134731896 C T het . 5 +exonic CFAP46 chr10 134738232 134738232 A G het . 3 +exonic CFAP46 chr10 134740088 134740088 T A het . 20 +intronic CFAP46 chr10 134743138 134743138 C A het . 28 +intronic CFAP46 chr10 134750604 134750604 C A het . 12 +intronic CFAP46 chr10 134750648 134750648 - TTAAG het . 9 +ncRNA_intronic LINC01166 chr10 134768137 134768137 G A het . 1 +intronic ADGRA1 chr10 134925311 134925311 A G het . 3 +intergenic ADGRA1(dist=8407),KNDC1(dist=20372) chr10 134953586 134953586 G A het . 2 +intergenic ADGRA1(dist=8423),KNDC1(dist=20356) chr10 134953602 134953602 C T het . 2 +intronic KNDC1 chr10 134981658 134981658 G A het . 4 +exonic ADAM8 chr10 135089035 135089035 A G het . 3 +intronic ADAM8 chr10 135090183 135090183 A G het . 2 +intronic TUBGCP2 chr10 135096784 135096784 A G het . 8 +intronic TUBGCP2 chr10 135103311 135103311 C T het . 2 +exonic CALY chr10 135140448 135140448 G A het . 8 +intergenic CALY(dist=7752),PRAP1(dist=2605) chr10 135158239 135158239 G T het . 9 +intronic FUOM chr10 135171364 135171364 T C het . 4 +intronic PAOX chr10 135202901 135202901 G C het . 2 +exonic PAOX chr10 135204950 135204950 C G het . 2 +ncRNA_exonic SCART1 chr10 135267445 135267445 T C het . 8 +upstream CYP2E1(dist=1) chr10 135340866 135340866 - C het . 4 +intronic SYCE1 chr10 135369258 135369258 C T het . 5 +intronic SYCE1 chr10 135371466 135371466 T C het . 13 +intronic SYCE1 chr10 135371467 135371467 T C het . 13 +ncRNA_exonic SPRNP1 chr10 135381390 135381390 G A het . 3 +ncRNA_exonic SPRNP1 chr10 135381425 135381425 G A het . 5 +ncRNA_exonic SPRNP1 chr10 135381443 135381443 C T het . 5 +intergenic FRG2B(dist=50747),NONE(dist=NONE) chr10 135491046 135491047 GC CT het . 1 +intergenic FRG2B(dist=50757),NONE(dist=NONE) chr10 135491056 135491056 G T het . 1 +intergenic FRG2B(dist=50779),NONE(dist=NONE) chr10 135491078 135491078 G T het . 1 +intergenic FRG2B(dist=50784),NONE(dist=NONE) chr10 135491083 135491083 G T het . 1 +intronic SCGB1C1,SCGB1C2 chr11 193194 193194 T C het . 6 +intronic SCGB1C1,SCGB1C2 chr11 194323 194323 A C het . 6 +intronic ODF3 chr11 199811 199811 C A het . 4 +exonic ODF3 chr11 199948 199948 C A het . 16 +exonic RIC8A chr11 209895 209897 CCC - het . 17 +intronic PSMD13 chr11 243018 243019 TC - het . 3 +intronic PSMD13 chr11 244491 244500 TACCTTTTAG - het . 20 +exonic IFITM2 chr11 308290 308290 T C het . 14 +intronic IFITM3 chr11 320115 320115 G A het . 3 +intronic B4GALNT4 chr11 373427 373427 C T het . 3 +intronic PKP3 chr11 396701 396701 C T het . 3 +exonic PKP3 chr11 397023 397023 C A het . 12 +exonic ANO9 chr11 428489 428489 T C het . 4 +intronic ANO9 chr11 430024 430024 G A het . 10 +intronic PTDSS2 chr11 460303 460303 T C het . 8 +intergenic PTDSS2(dist=1025),RNH1(dist=2087) chr11 492425 492425 C T het . 2 +intronic RNH1 chr11 494873 494873 G A het . 11 +intronic RNH1 chr11 499547 499547 A C het . 16 +intronic RNH1 chr11 499583 499583 G A het . 10 +intronic RNH1 chr11 500867 500867 G A het . 3 +intronic RNH1 chr11 502013 502013 G A het . 4 +intergenic RNH1(dist=17636),HRAS(dist=7323) chr11 524919 524919 T C het . 2 +intronic HRAS chr11 535098 535098 T G het . 2 +exonic LRRC56 chr11 551161 551161 G A het . 8 +intronic LRRC56 chr11 551881 551881 C T het . 9 +intronic LRRC56 chr11 552547 552547 T C het . 3 +intronic LRRC56 chr11 552562 552562 A C het . 4 +exonic LRRC56 chr11 554003 554003 T G het . 15 +intronic LMNTD2 chr11 555130 555130 G C het . 2 +exonic LMNTD2 chr11 555835 555835 A C het . 5 +exonic LMNTD2 chr11 555999 555999 G A het . 5 +intronic LMNTD2 chr11 556405 556405 T A het . 4 +intronic LMNTD2 chr11 556785 556785 G C het . 2 +exonic CDHR5 chr11 617967 617967 C G het . 17 +intronic DRD4 chr11 640349 640349 G A het . 3 +intronic DRD4 chr11 640369 640369 G C het . 2 +exonic DEAF1 chr11 644614 644614 G C het . 25 +intronic DEAF1 chr11 651415 651415 A - het . 17 +intronic DEAF1 chr11 683403 683403 A G het . 1 +intronic DEAF1 chr11 685082 685082 C T het . 3 +intronic EPS8L2 chr11 709680 709680 T C het . 7 +UTR5 TALDO1(NM_006755:c.-37_-36insCGC) chr11 747445 747445 - CGC het . 11 +intronic PIDD1 chr11 802115 802115 A G het . 3 +intronic PIDD1 chr11 802125 802125 T C het . 3 +intronic RPLP2 chr11 810393 810393 C A het . 8 +intronic PNPLA2 chr11 820148 820148 G T het . 3 +intronic CD151 chr11 836008 836008 T C het . 9 +intronic CD151 chr11 836023 836023 C T het . 12 +intronic CD151 chr11 837662 837662 T G het . 1 +intronic TSPAN4 chr11 850382 850382 C T het . 10 +intronic AP2A2 chr11 935059 935059 - TT het . 2 +intronic AP2A2 chr11 1003642 1003642 G A het . 4 +intronic AP2A2 chr11 1003879 1003879 A G het . 11 +intronic AP2A2 chr11 1009237 1009237 A C het . 13 +intronic AP2A2 chr11 1009242 1009242 T G het . 14 +intronic AP2A2 chr11 1009244 1009244 A C het . 13 +intronic AP2A2 chr11 1009416 1009416 C T het . 9 +intronic AP2A2 chr11 1009572 1009605 CGGGGGACACGCAGCCCACGACCCAGCGCCAGGG - het . 6 +intronic AP2A2 chr11 1009607 1009622 CTGGAGGGGCGGCCCC - het . 6 +exonic MUC6 chr11 1016609 1016609 C G het . 21 +exonic MUC6 chr11 1016630 1016630 G A het . 27 +exonic MUC6 chr11 1016640 1016640 G A het . 33 +exonic MUC6 chr11 1016655 1016655 G A het . 34 +exonic MUC6 chr11 1016662 1016662 G A het . 37 +exonic MUC6 chr11 1016665 1016665 C T het . 36 +exonic MUC6 chr11 1016693 1016693 G C het . 37 +exonic MUC6 chr11 1016704 1016704 C A het . 32 +exonic MUC6 chr11 1016713 1016713 T C het . 32 +exonic MUC6 chr11 1016869 1016870 AG CA het . 34 +exonic MUC6 chr11 1016887 1016887 G A het . 30 +exonic MUC6 chr11 1016889 1016890 GG AA het . 30 +exonic MUC6 chr11 1016890 1016890 G A het . 29 +exonic MUC6 chr11 1016894 1016894 G A het . 24 +exonic MUC6 chr11 1016906 1016906 G T het . 19 +exonic MUC6 chr11 1016960 1016960 G T het . 10 +exonic MUC6 chr11 1017029 1017029 T G het . 27 +exonic MUC6 chr11 1017069 1017069 G A het . 33 +exonic MUC6 chr11 1017084 1017084 G A het . 35 +exonic MUC6 chr11 1017110 1017110 C T het . 29 +exonic MUC6 chr11 1017112 1017113 GT CC het . 30 +exonic MUC6 chr11 1017113 1017113 T C het . 21 +exonic MUC6 chr11 1017173 1017173 G A het . 23 +exonic MUC6 chr11 1017183 1017183 G T het . 26 +exonic MUC6 chr11 1017363 1017363 C G het . 20 +exonic MUC6 chr11 1017384 1017384 G C het . 19 +exonic MUC6 chr11 1017421 1017421 G T het . 11 +exonic MUC6 chr11 1018116 1018116 T G het . 12 +exonic MUC6 chr11 1018295 1018295 T C het . 12 +intronic MUC6 chr11 1027120 1027120 G A het . 12 +intergenic LOC101927503(dist=10857),MUC2(dist=8254) chr11 1066621 1066621 C A het . 1 +exonic MUC2 chr11 1093512 1093512 C A het . 8 +intronic MUC2 chr11 1094629 1094629 T C het . 1 +intergenic MUC2(dist=32574),MUC5AC(dist=14590) chr11 1136990 1136990 A - het . 2 +intergenic MUC2(dist=32584),MUC5AC(dist=14580) chr11 1137000 1137000 A - het . 2 +intronic MUC5AC chr11 1161713 1161713 G C het . 2 +exonic MUC5AC chr11 1215580 1215580 A G het . 2 +exonic MUC5AC chr11 1215832 1215832 C T het . 17 +intronic MUC5AC chr11 1220997 1220997 G A het . 9 +exonic TOLLIP chr11 1311608 1311608 C A het . 4 +intronic BRSK2 chr11 1477797 1477797 C T het . 5 +intronic BRSK2 chr11 1481610 1481610 T C het . 7 +intronic BRSK2 chr11 1481691 1481691 C T het . 1 +exonic BRSK2 chr11 1481930 1481930 A G het . 6 +intergenic KRTAP5-3(dist=9240),KRTAP5-4(dist=3255) chr11 1638933 1638933 - T het . 2 +intergenic KRTAP5-3(dist=9263),KRTAP5-4(dist=3232) chr11 1638956 1638956 T C het . 2 +exonic KRTAP5-5 chr11 1651652 1651652 C T het . 14 +intergenic KRTAP5-5(dist=26251),FAM99A(dist=8419) chr11 1678410 1678410 - GAAA het . 2 +intergenic CTSD(dist=38845),SYT8(dist=31473) chr11 1824067 1824067 T A het . 1 +intergenic CTSD(dist=38854),SYT8(dist=31464) chr11 1824076 1824076 A G het . 2 +intronic SYT8 chr11 1857930 1857930 G A het . 6 +intergenic H19(dist=36499),IGF2(dist=91147) chr11 2059195 2059195 T C het . 3 +intronic TH chr11 2187439 2187439 C A het . 3 +intronic TH chr11 2187855 2187855 G C het . 17 +intronic TH chr11 2188566 2188566 C T het . 5 +intronic TH chr11 2191155 2191155 T C het . 14 +intergenic MIR4686(dist=35986),ASCL2(dist=59374) chr11 2230354 2230354 T C het . 2 +intronic TRPM5 chr11 2441686 2441686 - G het . 9 +ncRNA_exonic KCNQ1OT1 chr11 2631341 2631341 T C het . 2 +intronic CARS chr11 3048965 3048965 G A het . 6 +intronic CARS chr11 3050210 3050210 A G het . 8 +ncRNA_intronic CARS-AS1 chr11 3055411 3055414 TTTG - het . 2 +intronic ZNF195 chr11 3381843 3381843 A G het . 7 +intronic ZNF195 chr11 3388313 3388313 - A het . 2 +intronic ZNF195 chr11 3392648 3392648 T - het . 3 +intergenic TSSC2(dist=13395),LOC101927708(dist=85437) chr11 3443773 3443773 A G het . 7 +intergenic ART5(dist=1210),ART1(dist=1605) chr11 3664756 3664756 A G het . 4 +intronic NUP98 chr11 3705428 3705428 C G het . 3 +exonic NUP98 chr11 3727834 3727834 C T het . 12 +splicing NUP98(NM_016320:exon13:c.1409-1->C,NM_139132:exon13:c.1409-1->C,NM_139131:exon13:c.1409-1->C,NM_005387:exon13:c.1460-1->C) chr11 3756555 3756555 - G het . 18 +intronic NUP98 chr11 3756559 3756559 T A het . 16 +intronic NUP98 chr11 3756582 3756583 AT - het . 13 +intronic PGAP2 chr11 3823193 3823193 T A het . 2 +intronic PGAP2 chr11 3844433 3844433 T - het . 2 +intronic PGAP2 chr11 3845738 3845738 T G het . 4 +intronic STIM1 chr11 4013254 4013254 G A het . 2 +intronic STIM1 chr11 4016315 4016316 TT - het . 2 +intronic STIM1 chr11 4045360 4045360 A T het . 8 +intronic STIM1 chr11 4084113 4084113 - A het . 3 +intronic STIM1 chr11 4110148 4110148 C T het . 4 +intronic RRM1 chr11 4116335 4116335 A C het . 6 +intronic RRM1 chr11 4139451 4139451 T - het . 5 +intronic RRM1 chr11 4150239 4150239 T - het . 3 +exonic RRM1 chr11 4156318 4156318 C A het . 11 +ncRNA_intronic LOC100506082 chr11 4222978 4222978 G A het . 1 +intergenic LOC100506082(dist=9131),OR52B4(dist=155477) chr11 4233014 4233016 AGA GTC het . 11 +exonic OR52B4 chr11 4389453 4389453 G A het . 17 +exonic TRIM21 chr11 4409727 4409727 C A het . 26 +intergenic TRIM21(dist=17201),OR52K2(dist=38398) chr11 4432127 4432127 - AC het . 2 +intergenic TRIM21(dist=17228),OR52K2(dist=38371) chr11 4432154 4432154 T C het . 2 +intronic C11orf40 chr11 4594737 4594737 - T het . 11 +intronic C11orf40 chr11 4594739 4594739 C T het . 12 +upstream OR51D1(dist=925) chr11 4660020 4660020 A G het . 2 +intergenic OR51E1(dist=6863),OR51E2(dist=17822) chr11 4683579 4683579 C G het . 1 +intergenic OR51E2(dist=11909),OR51F1(dist=59224) chr11 4730985 4730985 C T het . 30 +downstream OR51A7(dist=174) chr11 4929712 4929712 G A het . 3 +intergenic OR51G1(dist=17408),OR51A4(dist=4412) chr11 4962977 4962977 - A het . 3 +intergenic OR51G1(dist=17421),OR51A4(dist=4399) chr11 4962990 4962990 - AAAC het . 3 +exonic OR51L1 chr11 5021055 5021055 C G het . 11 +intergenic OR52Z1(dist=14680),OR51V1(dist=6344) chr11 5214621 5214621 C T het . 1 +UTR3 HBG1(NM_000559:c.*6delC) chr11 5269583 5269583 G - het . 9 +UTR3 HBG1(NM_000559:c.*5A>T) chr11 5269584 5269584 T A het . 9 +UTR3 HBG1(NM_000559:c.*2_*3insC) chr11 5269586 5269586 - G het . 9 +exonic OR51B2 chr11 5345486 5345486 G A het . 4 +exonic OR51B5 chr11 5364742 5364742 C T het . 5 +UTR5 OR51B5(NM_001005567:c.-23_-22insGAC) chr11 5364776 5364776 - GTC het . 5 +intronic OR51B5 chr11 5423040 5423040 - TTTC het . 2 +intronic OR51B5 chr11 5423165 5423165 T C het . 3 +intronic OR51B5 chr11 5509748 5509748 A G het . 2 +exonic OR52D1 chr11 5510553 5510553 C T het . 12 +exonic OR52H1 chr11 5565906 5565906 A G het . 12 +intergenic OR52H1(dist=16486),OR52B6(dist=18868) chr11 5583239 5583239 T C het . 3 +intergenic OR52H1(dist=22237),OR52B6(dist=13117) chr11 5588990 5588990 A C het . 2 +intergenic OR52H1(dist=25995),OR52B6(dist=9359) chr11 5592748 5592748 T C het . 4 +intronic TRIM6,TRIM6-TRIM34 chr11 5618298 5618298 - TTTTAT het . 6 +intronic TRIM6,TRIM6-TRIM34 chr11 5626899 5626899 G A het . 2 +intronic TRIM6,TRIM6-TRIM34 chr11 5631972 5631972 G A het . 6 +exonic TRIM6-TRIM34 chr11 5653546 5653546 C T het . 9 +intronic TRIM34,TRIM6-TRIM34 chr11 5662319 5662319 C T het . 4 +intronic TRIM34,TRIM6-TRIM34 chr11 5662344 5662344 G T het . 6 +exonic TRIM5 chr11 5687211 5687211 C A het . 11 +intronic TRIM5 chr11 5687321 5687321 A - het . 9 +intronic TRIM5 chr11 5692589 5692589 T C het . 1 +intronic TRIM22 chr11 5719835 5719835 T C het . 7 +intronic TRIM22 chr11 5719848 5719848 C T het . 5 +exonic OR56B1 chr11 5758062 5758062 T C het . 21 +exonic OR56B1 chr11 5758091 5758091 C T het . 27 +exonic OR56B1 chr11 5758118 5758118 A C het . 30 +exonic OR52N1 chr11 5809308 5809308 A T het . 6 +intergenic OR52N1(dist=5461),OR52N2(dist=26059) chr11 5815507 5815507 A C het . 1 +intergenic OR52N1(dist=5482),OR52N2(dist=26038) chr11 5815528 5815528 T G het . 2 +intergenic OR52N1(dist=7460),OR52N2(dist=24060) chr11 5817506 5817506 A - het . 2 +intergenic OR52N1(dist=7487),OR52N2(dist=24033) chr11 5817533 5817533 T C het . 3 +downstream OR52N2(dist=37) chr11 5842568 5842568 A C het . 4 +exonic OR56A3 chr11 5968735 5968735 C A het . 24 +intergenic OR52L1(dist=7730),OR56A4(dist=7336) chr11 6015945 6015945 A T het . 17 +intergenic OR56A1(dist=61435),OR56B4(dist=18508) chr11 6110406 6110406 A G het . 4 +exonic OR56B4 chr11 6129837 6129837 C T het . 22 +intergenic OR52B2(dist=7010),OR52W1(dist=21888) chr11 6198566 6198566 C T het . 2 +intronic C11orf42 chr11 6227038 6227038 G C het . 1 +exonic C11orf42 chr11 6231731 6231731 C T het . 4 +exonic C11orf42 chr11 6231734 6231734 G A het . 3 +exonic FAM160A2 chr11 6239194 6239194 G A het . 12 +exonic SMPD1 chr11 6415666 6415666 C T het . 18 +UTR5 ARFIP2(NM_001242855:c.-1353C>G,NM_012402:c.-985C>G,NM_001242854:c.-985C>G,NM_001242856:c.-1375C>G) chr11 6502636 6502636 G C het . 5 +exonic DNHD1 chr11 6567895 6567895 - TGCCCTACTGCA het . 10 +exonic DNHD1 chr11 6569604 6569604 C A het . 10 +exonic DNHD1 chr11 6578614 6578616 GAG - het . 19 +exonic DNHD1 chr11 6592198 6592198 G A het . 4 +intronic RRP8 chr11 6624617 6624617 T C het . 7 +intronic TPP1 chr11 6637740 6637742 TTT - het . 8 +exonic DCHS1 chr11 6643252 6643252 T G het . 4 +intronic DCHS1 chr11 6647978 6647978 C T het . 2 +intronic DCHS1 chr11 6660318 6660318 G A het . 2 +exonic DCHS1 chr11 6661600 6661600 G T het . 12 +intronic MRPL17 chr11 6703892 6703892 T G het . 6 +ncRNA_exonic GVINP1 chr11 6740976 6740977 CT - het . 23 +intergenic GVINP1(dist=18589),OR2AG2(dist=27539) chr11 6761699 6761699 G T het . 1 +intergenic GVINP1(dist=18612),OR2AG2(dist=27516) chr11 6761722 6761722 T A het . 3 +intergenic OR6A2(dist=44349),OR10A5(dist=5426) chr11 6861488 6861488 G C het . 4 +exonic OR2D2 chr11 6913381 6913381 C A het . 18 +intergenic OR2D2(dist=3221),OR2D3(dist=25281) chr11 6916952 6916952 C A het . 5 +intronic ZNF215 chr11 6960477 6960477 C T het . 1 +exonic ZNF215 chr11 6976988 6976988 A T het . 20 +intronic ZNF214 chr11 7036816 7036824 AACAACAAA - het . 2 +exonic NLRP14 chr11 7063879 7063879 C A het . 18 +intergenic RBMXL2(dist=73463),MIR302E(dist=70155) chr11 7185842 7185842 A T het . 4 +intronic SYT9 chr11 7288668 7288668 G A het . 2 +intronic SYT9 chr11 7345211 7345211 A T het . 2 +intronic SYT9 chr11 7383374 7383374 T - het . 2 +intronic SYT9 chr11 7439093 7439093 G T het . 1 +intronic OLFML1 chr11 7512361 7512361 A G het . 1 +intronic PPFIBP2 chr11 7543519 7543519 G A het . 2 +intronic PPFIBP2 chr11 7570832 7570832 T G het . 3 +intronic PPFIBP2 chr11 7570841 7570842 TT - het . 2 +UTR5 PPFIBP2(NM_001351861:c.-100G>A,NM_001351859:c.-100G>A,NM_001351858:c.-100G>A,NM_001351857:c.-100G>A) chr11 7598722 7598722 G A het . 3 +intronic PPFIBP2 chr11 7672272 7672272 G A het . 3 +intronic OVCH2 chr11 7716549 7716549 C G het . 3 +intronic OVCH2 chr11 7717491 7717491 T C het . 1 +intronic OVCH2 chr11 7723068 7723068 T C het . 13 +intronic OVCH2 chr11 7723172 7723172 A - het . 11 +exonic OVCH2 chr11 7727886 7727886 C T het . 20 +exonic OR5P2 chr11 7818353 7818353 C A het . 33 +ncRNA_exonic OR5E1P chr11 7870670 7870670 A G het . 10 +intronic TUB chr11 8103104 8103104 G T het . 3 +intronic TUB chr11 8115762 8115762 C G het . 1 +intronic RIC3 chr11 8160051 8160051 G A het . 4 +intronic LMO1 chr11 8284838 8284838 A G het . 10 +intronic STK33 chr11 8434973 8434973 A - het . 7 +exonic TRIM66 chr11 8641037 8641037 T C het . 7 +intronic TRIM66 chr11 8644530 8644530 T G het . 12 +intronic TRIM66 chr11 8644563 8644566 CATA - het . 7 +exonic TRIM66 chr11 8662090 8662090 T C het . 4 +exonic ST5 chr11 8724265 8724265 C A het . 10 +intronic ST5 chr11 8724280 8724282 GAT - het . 4 +intronic ST5 chr11 8788225 8788225 A C het . 13 +ncRNA_intronic LOC102724784 chr11 8801042 8801045 TTTC - het . 3 +intronic ST5 chr11 8880842 8880845 TTTG - het . 2 +intronic ST5 chr11 8897533 8897533 T G het . 2 +UTR3 NRIP3(NM_020645:c.*56A>T) chr11 9005036 9005036 T A het . 4 +intronic SCUBE2 chr11 9072042 9072042 T C het . 3 +intronic SCUBE2 chr11 9081926 9081926 C T het . 3 +intronic SCUBE2 chr11 9096189 9096189 G C het . 5 +intronic DENND5A chr11 9228881 9228881 C A het . 8 +intergenic DENND5A(dist=10069),TMEM41B(dist=5259) chr11 9296942 9296942 A T het . 2 +intergenic DENND5A(dist=10076),TMEM41B(dist=5252) chr11 9296949 9296949 A T het . 2 +intronic TMEM41B chr11 9331938 9331938 - A het . 2 +intergenic TMEM41B(dist=10957),IPO7(dist=58897) chr11 9347272 9347272 C A het . 2 +intergenic TMEM41B(dist=31350),IPO7(dist=38501) chr11 9367665 9367668 TTTT - het . 3 +intergenic TMEM41B(dist=45576),IPO7(dist=24278) chr11 9381891 9381891 - AAT het . 2 +intergenic TMEM41B(dist=45581),IPO7(dist=24273) chr11 9381896 9381896 - CAACAT het . 2 +intergenic TMEM41B(dist=53870),IPO7(dist=15984) chr11 9390185 9390185 C A het . 1 +intergenic TMEM41B(dist=65397),IPO7(dist=4457) chr11 9401712 9401712 - TCT het . 2 +intronic IPO7 chr11 9413786 9413786 A G het . 3 +intronic IPO7 chr11 9451057 9451057 - AT het . 4 +intronic IPO7 chr11 9461994 9461994 C A het . 20 +intronic ZNF143 chr11 9493100 9493100 G T het . 3 +exonic ZNF143 chr11 9537904 9537904 G C het . 4 +exonic WEE1 chr11 9597486 9597486 G T het . 26 +intronic WEE1 chr11 9597956 9597956 C A het . 13 +intronic WEE1 chr11 9602840 9602840 T G het . 2 +intronic WEE1 chr11 9603236 9603236 C T het . 10 +intergenic WEE1(dist=16874),SWAP70(dist=57437) chr11 9628187 9628187 C T het . 2 +intergenic WEE1(dist=70611),SWAP70(dist=3700) chr11 9681924 9681924 A - het . 17 +intronic SWAP70 chr11 9759713 9759713 T G het . 4 +ncRNA_intronic SBF2-AS1 chr11 9801853 9801853 C T het . 11 +ncRNA_intronic SBF2-AS1 chr11 9806896 9806896 C A het . 18 +exonic SBF2 chr11 9861208 9861208 G C het . 38 +ncRNA_intronic LOC101928008 chr11 9938154 9938154 C T het . 2 +intronic SBF2 chr11 9981165 9981165 A G het . 3 +intronic SBF2 chr11 10062733 10062733 G A het . 2 +ncRNA_intronic CAND1.11 chr11 10382184 10382184 T C het . 2 +intronic AMPD3 chr11 10521850 10521850 G A het . 7 +intronic AMPD3 chr11 10527144 10527144 G A het . 12 +ncRNA_intronic MRVI1-AS1 chr11 10581470 10581470 G A het . 8 +intronic MRVI1 chr11 10653693 10653693 - TTTC het . 4 +intronic MRVI1 chr11 10653729 10653729 C G het . 8 +intronic MRVI1 chr11 10653738 10653739 TT - het . 8 +intronic CTR9 chr11 10786023 10786023 - AGTTG het . 11 +intronic CTR9 chr11 10788284 10788284 A G het . 2 +intergenic CTR9(dist=15288),EIF4G2(dist=2003) chr11 10816590 10816590 A G het . 2 +intronic EIF4G2 chr11 10820663 10820663 - A het . 8 +intronic EIF4G2 chr11 10829955 10829955 C G het . 9 +exonic ZBED5 chr11 10874774 10874774 C A het . 20 +intergenic ZBED5-AS1(dist=115468),GALNT18(dist=276130) chr11 11016291 11016291 A G het . 2 +intergenic ZBED5-AS1(dist=179291),GALNT18(dist=212307) chr11 11080114 11080114 C A het . 2 +intergenic ZBED5-AS1(dist=210702),GALNT18(dist=180896) chr11 11111525 11111525 T C het . 3 +intergenic ZBED5-AS1(dist=210712),GALNT18(dist=180886) chr11 11111535 11111535 T C het . 3 +intergenic ZBED5-AS1(dist=258163),GALNT18(dist=133435) chr11 11158986 11158986 - AAAAG het . 15 +intergenic ZBED5-AS1(dist=312527),GALNT18(dist=79071) chr11 11213350 11213350 C T het . 2 +exonic CSNK2A3 chr11 11374474 11374474 C A het . 27 +intronic GALNT18 chr11 11398698 11398698 G A het . 9 +intronic USP47 chr11 11886158 11886158 A G het . 6 +intronic USP47 chr11 11969473 11969473 - T het . 9 +intronic DKK3 chr11 12023820 12023820 A T het . 15 +ncRNA_intronic LINC02547 chr11 12053756 12053756 A C het . 2 +intronic MICAL2 chr11 12262410 12262410 G A het . 3 +intronic MICAL2 chr11 12262476 12262476 C A het . 2 +intronic MICALCL chr11 12331512 12331512 C T het . 2 +intronic MICALCL chr11 12345459 12345459 C T het . 18 +intronic MICALCL chr11 12345509 12345509 C T het . 16 +intronic MICALCL chr11 12363379 12363379 G A het . 3 +exonic MICALCL chr11 12379865 12379865 C A het . 17 +intronic PARVA chr11 12399375 12399375 T G het . 5 +intronic PARVA chr11 12448688 12448688 T C het . 2 +intronic PARVA chr11 12507893 12507893 C T het . 2 +intronic TEAD1 chr11 12883532 12883532 T - het . 5 +exonic TEAD1 chr11 12946566 12946566 C A het . 35 +intergenic RASSF10(dist=118337),ARNTL(dist=146209) chr11 13151990 13151990 C A het . 2 +intergenic RASSF10(dist=121506),ARNTL(dist=143040) chr11 13155159 13155159 T G het . 1 +intergenic RASSF10(dist=194328),ARNTL(dist=70218) chr11 13227981 13227981 G A het . 2 +intergenic RASSF10(dist=194353),ARNTL(dist=70193) chr11 13228006 13228006 G T het . 1 +intergenic RASSF10(dist=201553),ARNTL(dist=62993) chr11 13235206 13235206 T A het . 4 +intergenic RASSF10(dist=254086),ARNTL(dist=10460) chr11 13287739 13287739 A G het . 2 +exonic ARNTL chr11 13387097 13387097 C T het . 20 +intronic ARNTL chr11 13396166 13396166 T C het . 1 +intergenic BTBD10(dist=23540),PTH(dist=5208) chr11 13508384 13508384 C T het . 2 +intergenic PTH(dist=102580),FAR1(dist=69904) chr11 13620302 13620302 A G het . 1 +intronic FAR1 chr11 13743488 13743488 C A het . 10 +intergenic FAR1(dist=24312),LINC02548(dist=27728) chr11 13778205 13778205 - A het . 2 +exonic SPON1 chr11 14101493 14101493 - C het . 23 +intronic SPON1 chr11 14212191 14212191 T - het . 2 +intronic COPB1 chr11 14480292 14480292 C T het . 2 +exonic COPB1 chr11 14486547 14486547 G A het . 17 +intronic COPB1 chr11 14498309 14498310 TT - het . 4 +intronic COPB1 chr11 14499536 14499536 A G het . 2 +intronic COPB1 chr11 14507435 14507435 T C het . 2 +intronic COPB1 chr11 14507449 14507449 C A het . 2 +intronic COPB1 chr11 14512060 14512060 C T het . 6 +exonic COPB1 chr11 14515258 14515258 G A het . 25 +intronic COPB1 chr11 14516003 14516004 TT AA het . 7 +intronic PSMA1 chr11 14527075 14527075 C T het . 2 +intronic PSMA1 chr11 14539316 14539318 AAA - het . 5 +UTR5 PSMA1(NM_148976:c.-38T>G) chr11 14632570 14632570 A C het . 9 +exonic PDE3B chr11 14666088 14666088 C A het . 15 +intronic PDE3B chr11 14854498 14854498 T - het . 9 +intronic PDE3B chr11 14856367 14856367 T A het . 2 +intergenic CYP2R1(dist=15788),CALCA(dist=58676) chr11 14929539 14929539 A T het . 9 +intergenic INSC(dist=18372),LOC102724957(dist=378303) chr11 15287128 15287128 T C het . 1 +intergenic INSC(dist=175850),LOC102724957(dist=220825) chr11 15444606 15444606 G A het . 1 +intergenic LOC102724957(dist=205532),SOX6(dist=55549) chr11 15932446 15932446 T C het . 1 +intergenic LOC102724957(dist=228199),SOX6(dist=32882) chr11 15955113 15955113 G A het . 1 +intronic SOX6 chr11 16007047 16007047 G T het . 1 +intronic SOX6 chr11 16007053 16007053 C G het . 1 +intronic SOX6 chr11 16032610 16032610 A G het . 2 +intronic SOX6 chr11 16117685 16117685 A - het . 19 +intronic SOX6 chr11 16287436 16287436 C A het . 3 +intronic SOX6 chr11 16287463 16287463 A - het . 2 +intergenic SOX6(dist=114964),C11orf58(dist=147249) chr11 16612899 16612899 C T het . 2 +UTR3 C11orf58(NM_014267:c.*691G>A) chr11 16777342 16777342 G A het . 2 +intronic PLEKHA7 chr11 16837637 16837637 G A het . 2 +intronic PLEKHA7 chr11 16837658 16837658 T C het . 5 +intronic PLEKHA7 chr11 16855575 16855575 C T het . 4 +intronic PLEKHA7 chr11 16869282 16869282 G A het . 2 +intronic PLEKHA7 chr11 16969148 16969151 AAAG - het . 1 +intronic PLEKHA7 chr11 17035493 17035493 - A het . 9 +intronic NUCB2 chr11 17333790 17333790 T - het . 5 +intronic USH1C chr11 17517382 17517383 AT - het . 4 +intronic USH1C chr11 17517407 17517407 G C het . 3 +intronic USH1C chr11 17537902 17537902 C A het . 15 +intronic USH1C chr11 17542583 17542583 C T het . 26 +intronic USH1C chr11 17542586 17542586 T C het . 26 +downstream TPH1(dist=813) chr11 18041271 18041271 A G het . 23 +splicing SAAL1(NM_138421:exon4:c.334-1G>T) chr11 18113872 18113872 C A het . 26 +exonic MRGPRX3 chr11 18159169 18159169 A G het . 21 +ncRNA_exonic LOC494141 chr11 18231749 18231749 T G het . 20 +ncRNA_exonic LOC494141 chr11 18231789 18231789 T - het . 20 +intronic SAA2-SAA4,SAA4 chr11 18257597 18257597 T A het . 7 +intergenic SAA2-SAA4(dist=4039),SAA1(dist=13512) chr11 18274260 18274260 A - het . 4 +intronic HPS5 chr11 18318551 18318551 A - het . 24 +intronic HPS5 chr11 18333059 18333059 T - het . 23 +intronic HPS5 chr11 18333061 18333061 T A het . 24 +intronic HPS5 chr11 18333062 18333062 T A het . 24 +intronic GTF2H1 chr11 18379447 18379447 A - het . 14 +intronic LDHA chr11 18428637 18428637 - T het . 12 +intronic LDHAL6A chr11 18487404 18487404 A G het . 4 +exonic TSG101 chr11 18505591 18505591 C A het . 20 +intronic TSG101 chr11 18527939 18527939 A - het . 3 +intronic TSG101 chr11 18528245 18528245 T A het . 10 +intronic UEVLD chr11 18596967 18596967 A - het . 17 +exonic SPTY2D1 chr11 18633971 18633971 G A het . 20 +intergenic SPTY2D1(dist=6099),TMEM86A(dist=58163) chr11 18662119 18662119 G T het . 1 +intergenic SPTY2D1(dist=6102),TMEM86A(dist=58160) chr11 18662122 18662122 T G het . 1 +exonic IGSF22 chr11 18732370 18732370 G A het . 7 +intronic IGSF22 chr11 18732386 18732386 A C het . 5 +intronic IGSF22 chr11 18733579 18733579 T C het . 2 +exonic IGSF22 chr11 18737095 18737095 C T het . 17 +intronic IGSF22 chr11 18741504 18741504 C A het . 18 +intronic PTPN5 chr11 18771041 18771041 G C het . 1 +intergenic PTPN5(dist=23398),MRGPRX1(dist=117694) chr11 18837666 18837666 - T het . 2 +intergenic PTPN5(dist=78778),MRGPRX1(dist=62314) chr11 18893046 18893046 C T het . 2 +intergenic PTPN5(dist=83677),MRGPRX1(dist=57415) chr11 18897945 18897945 G A het . 2 +intergenic MRGPRX1(dist=21424),MRGPRX2(dist=98030) chr11 18977973 18977973 G T het . 12 +intergenic MRGPRX1(dist=21431),MRGPRX2(dist=98023) chr11 18977980 18977980 A C het . 12 +intergenic MRGPRX1(dist=21753),MRGPRX2(dist=97700) chr11 18978302 18978303 GG CA het . 3 +intergenic MRGPRX1(dist=60691),MRGPRX2(dist=58763) chr11 19017240 19017240 - T het . 2 +intronic ZDHHC13 chr11 19194141 19194141 T C het . 2 +intronic CSRP3 chr11 19206693 19206693 T C het . 10 +intronic NAV2 chr11 19966878 19966878 C G het . 1 +intronic NAV2 chr11 19966883 19966892 CTTTCCTTCC - het . 2 +intronic NAV2 chr11 20049859 20049859 A G het . 3 +intronic NAV2 chr11 20055897 20055897 - T het . 3 +intronic NAV2 chr11 20089725 20089725 T C het . 16 +intronic NAV2 chr11 20098893 20098893 A G het . 1 +exonic NAV2 chr11 20101744 20101744 C A het . 3 +intronic NAV2 chr11 20101769 20101769 C T het . 2 +intergenic DBX1(dist=126996),HTATIP2(dist=76365) chr11 20308866 20308866 A G het . 1 +intergenic DBX1(dist=127015),HTATIP2(dist=76346) chr11 20308885 20308885 C T het . 2 +intergenic DBX1(dist=152005),HTATIP2(dist=51356) chr11 20333875 20333875 A T het . 2 +intronic HTATIP2 chr11 20395162 20395162 C A het . 1 +intronic HTATIP2 chr11 20404388 20404396 TAGACACCT - het . 4 +intronic HTATIP2 chr11 20404503 20404504 TT - het . 10 +intronic HTATIP2 chr11 20404506 20404506 T C het . 10 +intronic HTATIP2 chr11 20404508 20404508 T C het . 11 +intergenic HTATIP2(dist=1867),PRMT3(dist=1880) chr11 20407196 20407196 T C het . 4 +intronic PRMT3 chr11 20462810 20462813 TTTA - het . 2 +intergenic PRMT3(dist=16305),SLC6A5(dist=73762) chr11 20547184 20547184 C T het . 2 +intergenic PRMT3(dist=65673),SLC6A5(dist=24394) chr11 20596552 20596552 - GAA het . 10 +intergenic PRMT3(dist=65703),SLC6A5(dist=24364) chr11 20596582 20596582 - GAA het . 15 +exonic SLC6A5 chr11 20629140 20629140 C A het . 18 +intronic SLC6A5 chr11 20639652 20639652 A G het . 2 +intronic SLC6A5 chr11 20642455 20642455 C T het . 1 +intronic NELL1 chr11 20959180 20959180 A C het . 3 +intronic NELL1 chr11 20959185 20959185 A T het . 4 +intronic NELL1 chr11 21225277 21225277 G A het . 2 +intronic NELL1 chr11 21311982 21311982 C T het . 3 +intronic NELL1 chr11 21480481 21480481 - AC het . 2 +intronic NELL1 chr11 21480483 21480483 T C het . 2 +intronic NELL1 chr11 21555742 21555742 C T het . 6 +intergenic NELL1(dist=387269),ANO5(dist=230224) chr11 21984498 21984498 C T het . 2 +UTR5 ANO5(NM_001142649:c.-136G>C,NM_213599:c.-136G>C) chr11 22214903 22214903 G C het . 2 +intronic ANO5 chr11 22245832 22245832 T C het . 1 +intronic ANO5 chr11 22247514 22247514 T - het . 25 +intronic ANO5 chr11 22297607 22297608 TT - het . 34 +intergenic ANO5(dist=14311),SLC17A6(dist=40443) chr11 22319224 22319224 A T het . 1 +intergenic ANO5(dist=14326),SLC17A6(dist=40428) chr11 22319239 22319239 T A het . 2 +intergenic LINC01495(dist=122375),FANCF(dist=8139) chr11 22635940 22635940 T - het . 1 +intergenic LINC01495(dist=122382),FANCF(dist=8132) chr11 22635947 22635947 T A het . 2 +intergenic FANCF(dist=3159),GAS2(dist=37613) chr11 22650546 22650547 TG - het . 2 +intergenic FANCF(dist=21048),GAS2(dist=19725) chr11 22668435 22668435 T C het . 2 +intronic GAS2 chr11 22705197 22705197 C T het . 3 +intronic GAS2 chr11 22706412 22706412 C A het . 1 +intronic GAS2 chr11 22707100 22707100 T C het . 7 +intronic GAS2 chr11 22730767 22730767 C A het . 1 +intronic GAS2 chr11 22804208 22804208 C T het . 2 +intronic SVIP chr11 22849244 22849244 C T het . 11 +intronic CCDC179 chr11 22875192 22875192 C T het . 3 +intergenic CCDC179(dist=79585),MIR8054(dist=479094) chr11 22961557 22961557 T C het . 1 +intergenic CCDC179(dist=81797),MIR8054(dist=476882) chr11 22963769 22963769 A C het . 1 +intergenic CCDC179(dist=208906),MIR8054(dist=349772) chr11 23090878 23090879 AT - het . 2 +intergenic CCDC179(dist=208916),MIR8054(dist=349763) chr11 23090888 23090888 A C het . 3 +intergenic CCDC179(dist=219422),MIR8054(dist=339257) chr11 23101394 23101394 T A het . 2 +intergenic CCDC179(dist=279708),MIR8054(dist=278971) chr11 23161680 23161680 T C het . 2 +intergenic CCDC179(dist=356810),MIR8054(dist=201869) chr11 23238782 23238782 G T het . 1 +intergenic CCDC179(dist=365827),MIR8054(dist=192852) chr11 23247799 23247799 A C het . 2 +intergenic CCDC179(dist=481527),MIR8054(dist=77152) chr11 23363499 23363499 G A het . 3 +intergenic MIR8054(dist=12611),LUZP2(dist=1065160) chr11 23453347 23453356 TTTTATTTTA - het . 5 +intergenic MIR8054(dist=16856),LUZP2(dist=1060924) chr11 23457592 23457592 A G het . 1 +intergenic MIR8054(dist=94271),LUZP2(dist=983509) chr11 23535007 23535007 C G het . 1 +intergenic MIR8054(dist=100943),LUZP2(dist=976834) chr11 23541679 23541682 AAAC - het . 6 +intergenic MIR8054(dist=147301),LUZP2(dist=930479) chr11 23588037 23588037 - CTTT het . 2 +intergenic MIR8054(dist=147480),LUZP2(dist=930300) chr11 23588216 23588216 G T het . 3 +intergenic MIR8054(dist=495592),LUZP2(dist=582188) chr11 23936328 23936328 C T het . 1 +intergenic MIR8054(dist=496030),LUZP2(dist=581750) chr11 23936766 23936766 C A het . 1 +intergenic MIR8054(dist=1063472),LUZP2(dist=14308) chr11 24504208 24504208 A C het . 2 +intronic LUZP2 chr11 24568345 24568345 A G het . 2 +intronic LUZP2 chr11 24595410 24595410 T - het . 2 +intronic LUZP2 chr11 24595712 24595715 TTTC - het . 2 +intronic LUZP2 chr11 24935988 24935988 A G het . 9 +intronic LUZP2 chr11 24985146 24985146 T - het . 3 +intronic LUZP2 chr11 24998021 24998023 TTT - het . 5 +intronic LUZP2 chr11 25097753 25097753 C T het . 3 +intergenic LUZP2(dist=91207),ANO3(dist=1015277) chr11 25195393 25195393 - C het . 1 +intergenic LUZP2(dist=107078),ANO3(dist=999406) chr11 25211264 25211264 T - het . 3 +intergenic LUZP2(dist=191842),ANO3(dist=914642) chr11 25296028 25296028 G C het . 2 +intergenic LUZP2(dist=245239),ANO3(dist=861245) chr11 25349425 25349425 G A het . 2 +intergenic LUZP2(dist=358759),ANO3(dist=747725) chr11 25462945 25462945 A G het . 2 +intergenic LUZP2(dist=374987),ANO3(dist=731497) chr11 25479173 25479173 C G het . 2 +intergenic LUZP2(dist=437519),ANO3(dist=668965) chr11 25541705 25541705 A G het . 3 +intergenic LUZP2(dist=505730),ANO3(dist=600754) chr11 25609916 25609916 T - het . 3 +intergenic LUZP2(dist=655545),ANO3(dist=450939) chr11 25759731 25759731 C A het . 2 +intronic ANO3 chr11 26366749 26366749 G A het . 1 +intronic ANO3 chr11 26465462 26465462 T - het . 5 +intronic ANO3 chr11 26538278 26538278 C A het . 7 +intronic ANO3 chr11 26574740 26574740 T C het . 12 +intronic ANO3 chr11 26574783 26574783 G - het . 11 +intronic ANO3,MUC15 chr11 26584942 26584942 C G het . 5 +exonic MUC15 chr11 26587086 26587086 G A het . 9 +intronic ANO3,MUC15 chr11 26588795 26588795 - T het . 5 +intronic ANO3,MUC15 chr11 26588804 26588804 C T het . 6 +intronic ANO3 chr11 26609881 26609881 - C het . 2 +intronic ANO3 chr11 26655890 26655890 C T het . 16 +intronic SLC5A12 chr11 26724972 26724972 - ACAC het . 4 +intergenic SLC5A12(dist=31239),FIBIN(dist=240815) chr11 26774813 26774813 T G het . 1 +intergenic SLC5A12(dist=90533),FIBIN(dist=181521) chr11 26834107 26834107 T C het . 3 +intergenic SLC5A12(dist=223198),FIBIN(dist=48856) chr11 26966772 26966772 A G het . 2 +intronic LGR4 chr11 27403698 27403698 G A het . 10 +intronic LGR4 chr11 27412783 27412784 TT - het . 4 +intronic LIN7C chr11 27523186 27523186 G T het . 2 +intergenic BDNF(dist=84562),KIF18A(dist=213996) chr11 27828167 27828167 C A het . 20 +intergenic BDNF(dist=166972),KIF18A(dist=131586) chr11 27910577 27910577 C A het . 24 +intronic METTL15 chr11 28302234 28302234 C A het . 1 +intergenic MIR8068(dist=46650),LINC02546(dist=1070215) chr11 28545745 28545745 G T het . 2 +intergenic MIR8068(dist=233561),LINC02546(dist=883304) chr11 28732656 28732656 A G het . 2 +intergenic MIR8068(dist=233564),LINC02546(dist=883301) chr11 28732659 28732659 C T het . 2 +intergenic MIR8068(dist=354680),LINC02546(dist=762185) chr11 28853775 28853775 A G het . 2 +intergenic MIR8068(dist=354682),LINC02546(dist=762181) chr11 28853777 28853779 TTT - het . 2 +intergenic MIR8068(dist=354691),LINC02546(dist=762174) chr11 28853786 28853786 T G het . 2 +intergenic MIR8068(dist=366408),LINC02546(dist=750457) chr11 28865503 28865503 A T het . 2 +intergenic MIR8068(dist=366413),LINC02546(dist=750452) chr11 28865508 28865508 C T het . 2 +intergenic MIR8068(dist=390035),LINC02546(dist=726830) chr11 28889130 28889130 G T het . 2 +intergenic MIR8068(dist=466949),LINC02546(dist=649916) chr11 28966044 28966044 C A het . 4 +intergenic MIR8068(dist=523762),LINC02546(dist=593103) chr11 29022857 29022857 A G het . 2 +intergenic MIR8068(dist=523989),LINC02546(dist=592876) chr11 29023084 29023084 T C het . 2 +intergenic MIR8068(dist=531388),LINC02546(dist=585477) chr11 29030483 29030483 T - het . 2 +intergenic MIR8068(dist=536402),LINC02546(dist=580463) chr11 29035497 29035497 A C het . 1 +intergenic MIR8068(dist=613689),LINC02546(dist=503176) chr11 29112784 29112784 T G het . 2 +intergenic MIR8068(dist=721509),LINC02546(dist=395356) chr11 29220604 29220604 - C het . 3 +intergenic MIR8068(dist=1071246),LINC02546(dist=45619) chr11 29570341 29570341 C A het . 3 +intergenic KCNA4(dist=10467),FSHB(dist=203519) chr11 30049044 30049044 - A het . 3 +intronic ARL14EP chr11 30358033 30358034 CT - het . 15 +UTR3 MPPED2(NM_001145399:c.*137A>T) chr11 30410299 30410299 T A het . 6 +intronic MPPED2 chr11 30497784 30497784 A G het . 2 +exonic DCDC1 chr11 30937228 30937228 C A het . 19 +intronic DCDC1 chr11 30965116 30965116 C T het . 15 +intronic DCDC1 chr11 31106725 31106725 A T het . 2 +intronic DCDC1 chr11 31128152 31128152 C G het . 3 +intronic DNAJC24 chr11 31429466 31429466 A T het . 4 +intronic IMMP1L chr11 31474674 31474674 T A het . 16 +intronic ELP4 chr11 31792113 31792113 A - het . 3 +intronic ELP4 chr11 31797603 31797603 A G het . 2 +UTR3 PAX6(NM_001127612:c.*21delA,NM_001604:c.*21delA,NM_001310158:c.*21delA,NM_001310161:c.*21delA,NM_001258462:c.*21delA,NM_001258465:c.*21delA,NM_001258464:c.*21delA,NM_001258463:c.*21delA,NM_001310160:c.*21delA,NM_000280:c.*21delA) chr11 31811461 31811461 T - het . 8 +intronic RCN1 chr11 32118666 32118667 TT - het . 2 +intergenic SNORA88(dist=47231),WT1(dist=196632) chr11 32212689 32212689 G A het . 2 +intronic WT1 chr11 32430998 32430998 G A het . 2 +exonic WT1 chr11 32456702 32456702 A C het . 13 +exonic WT1 chr11 32456716 32456716 C A het . 14 +intergenic WT1-AS(dist=4279),EIF3M(dist=120719) chr11 32484594 32484594 C T het . 5 +exonic EIF3M chr11 32611143 32611143 C T het . 14 +UTR3 CCDC73(NM_001008391:c.*383C>A),EIF3M(NM_001307929:c.*29G>T,NM_006360:c.*29G>T) chr11 32623974 32623974 G T het . 10 +intronic QSER1 chr11 32962759 32962761 TTA - het . 2 +exonic QSER1 chr11 32990637 32990637 A G het . 18 +intronic TCP11L1 chr11 33079752 33079752 - T het . 7 +intronic CSTF3 chr11 33118137 33118137 G T het . 11 +ncRNA_intronic CSTF3-DT chr11 33200888 33200888 C A het . 2 +exonic HIPK3 chr11 33360936 33360936 C A het . 18 +intronic HIPK3 chr11 33368726 33368726 A - het . 4 +intronic HIPK3 chr11 33369618 33369618 C A het . 12 +exonic KIAA1549L chr11 33689576 33689576 C A het . 24 +intronic C11orf91 chr11 33721175 33721175 G C het . 17 +intergenic FBXO3-DT(dist=9437),LMO2(dist=73470) chr11 33806653 33806653 G A het . 1 +intergenic FBXO3-DT(dist=57553),LMO2(dist=25354) chr11 33854769 33854769 C A het . 14 +intergenic FBXO3-DT(dist=60891),LMO2(dist=22016) chr11 33858107 33858107 T C het . 1 +intergenic LMO2(dist=45696),CAPRIN1(dist=113696) chr11 33959532 33959534 TTT - het . 1 +intergenic LMO2(dist=79783),CAPRIN1(dist=79611) chr11 33993619 33993619 A - het . 1 +intergenic LMO2(dist=79803),CAPRIN1(dist=79591) chr11 33993639 33993639 G A het . 2 +intronic CAPRIN1 chr11 34093350 34093350 T - het . 31 +intronic CAPRIN1 chr11 34093364 34093364 C A het . 33 +intronic CAPRIN1 chr11 34113717 34113717 C T het . 1 +exonic NAT10 chr11 34154641 34154641 C T het . 32 +intronic ABTB2 chr11 34254007 34254007 A C het . 3 +intronic ABTB2 chr11 34254014 34254014 T C het . 3 +intronic ABTB2 chr11 34266546 34266546 A C het . 2 +intronic ABTB2 chr11 34266561 34266561 T C het . 1 +UTR5 CAT(NM_001752:c.-89A>T) chr11 34460472 34460472 A T het . 4 +exonic CAT chr11 34485699 34485699 C A het . 33 +intronic CAT chr11 34490058 34490058 A - het . 6 +exonic ELF5 chr11 34527180 34527180 C T het . 4 +intronic EHF chr11 34680053 34680053 G A het . 5 +intergenic EHF(dist=133678),APIP(dist=85331) chr11 34818512 34818512 G A het . 2 +intergenic EHF(dist=158986),APIP(dist=60023) chr11 34843820 34843820 C G het . 2 +intronic APIP chr11 34905145 34905145 T C het . 2 +intronic APIP chr11 34916710 34916710 A G het . 21 +intronic APIP chr11 34918273 34918273 - CAA het . 11 +intronic APIP chr11 34935124 34935124 A G het . 2 +intronic CD44 chr11 35223158 35223158 T C het . 5 +UTR3 SLC1A2(NM_001252652:c.*15G>T,NM_001195728:c.*15G>T,NM_004171:c.*15G>T) chr11 35282426 35282426 C A het . 24 +intronic PAMR1 chr11 35488298 35488298 A C het . 2 +intronic TRIM44 chr11 35740227 35740227 G A het . 2 +intergenic TRIM44(dist=118307),LDLRAD3(dist=14621) chr11 35950910 35950910 A T het . 1 +intronic LDLRAD3 chr11 36033745 36033745 A G het . 2 +intergenic LDLRAD3(dist=32572),COMMD9(dist=7584) chr11 36286258 36286258 G A het . 2 +intronic PRR5L chr11 36413113 36413113 - T het . 2 +intronic PRR5L chr11 36427996 36427996 C A het . 1 +intronic PRR5L chr11 36428021 36428021 A G het . 2 +exonic RAG2 chr11 36615646 36615646 C A het . 25 +intronic C11orf74 chr11 36669778 36669778 C T het . 3 +intergenic C11orf74(dist=215939),LOC105376633(dist=1063371) chr11 36896780 36896780 G A het . 1 +intergenic C11orf74(dist=268185),LOC105376633(dist=1011125) chr11 36949026 36949026 G A het . 2 +intergenic C11orf74(dist=268206),LOC105376633(dist=1011104) chr11 36949047 36949047 G C het . 2 +intergenic LOC105376633(dist=228827),LOC103312105(dist=434774) chr11 38205040 38205040 C A het . 2 +intergenic LOC105376633(dist=484747),LOC103312105(dist=178854) chr11 38460960 38460960 A C het . 4 +intergenic LOC105376633(dist=484751),LOC103312105(dist=178850) chr11 38460964 38460964 G A het . 4 +intergenic LOC105376633(dist=484755),LOC103312105(dist=178846) chr11 38460968 38460968 A T het . 4 +intergenic LOC105376633(dist=484758),LOC103312105(dist=178843) chr11 38460971 38460971 G A het . 4 +intergenic LOC105376633(dist=484762),LOC103312105(dist=178839) chr11 38460975 38460975 A T het . 4 +intergenic LOC105376633(dist=484764),LOC103312105(dist=178837) chr11 38460977 38460977 G A het . 4 +intergenic LOC105376633(dist=547258),LOC103312105(dist=116343) chr11 38523471 38523471 - T het . 3 +intergenic LOC105376633(dist=629260),LOC103312105(dist=34341) chr11 38605473 38605473 G A het . 2 +intergenic LINC01493(dist=23195),LRRC4C(dist=1435757) chr11 38699994 38699994 A G het . 1 +intergenic LINC01493(dist=123191),LRRC4C(dist=1335761) chr11 38799990 38799990 C T het . 2 +intergenic LINC01493(dist=161768),LRRC4C(dist=1297184) chr11 38838567 38838567 A - het . 2 +intergenic LINC01493(dist=358124),LRRC4C(dist=1100828) chr11 39034923 39034923 G A het . 4 +intergenic LINC01493(dist=623379),LRRC4C(dist=835573) chr11 39300178 39300178 G C het . 1 +intergenic LINC01493(dist=718338),LRRC4C(dist=740614) chr11 39395137 39395137 G A het . 2 +intergenic LINC01493(dist=1076615),LRRC4C(dist=382337) chr11 39753414 39753414 T C het . 2 +intergenic LINC01493(dist=1108216),LRRC4C(dist=350736) chr11 39785015 39785015 A T het . 1 +intergenic LINC01493(dist=1109936),LRRC4C(dist=349013) chr11 39786735 39786738 AACA - het . 1 +intergenic LINC01493(dist=1109951),LRRC4C(dist=349001) chr11 39786750 39786750 T G het . 2 +intergenic LINC01493(dist=1154069),LRRC4C(dist=304883) chr11 39830868 39830868 G T het . 2 +intergenic LINC01493(dist=1366791),LRRC4C(dist=92161) chr11 40043590 40043590 C T het . 3 +intergenic LINC01493(dist=1427777),LRRC4C(dist=31175) chr11 40104576 40104576 G C het . 2 +intronic LRRC4C chr11 40319162 40319162 G C het . 2 +intronic LRRC4C chr11 40418589 40418589 T A het . 1 +intronic LRRC4C chr11 40935555 40935555 C T het . 1 +intronic LRRC4C chr11 41082610 41082610 T C het . 1 +intergenic LRRC4C(dist=200071),LINC01499(dist=54861) chr11 41681257 41681257 T C het . 4 +ncRNA_intronic LINC01499 chr11 41820484 41820484 G A het . 2 +ncRNA_intronic LOC101928591 chr11 42029068 42029068 T - het . 2 +intergenic LOC101928591(dist=82519),LOC100507205(dist=19766) chr11 42189527 42189527 - A het . 2 +intergenic LOC100507205(dist=118675),HNRNPKP3(dist=889139) chr11 42393915 42393915 A C het . 3 +intergenic LOC100507205(dist=327150),HNRNPKP3(dist=680664) chr11 42602390 42602390 T - het . 2 +intergenic LOC100507205(dist=333731),HNRNPKP3(dist=674083) chr11 42608971 42608971 - A het . 4 +intergenic LOC100507205(dist=384969),HNRNPKP3(dist=622845) chr11 42660209 42660209 A G het . 1 +intergenic LOC100507205(dist=606406),HNRNPKP3(dist=401405) chr11 42881646 42881649 AAAC - het . 1 +intergenic LOC100507205(dist=619743),HNRNPKP3(dist=388069) chr11 42894983 42894985 TTT - het . 2 +intergenic LOC100507205(dist=619772),HNRNPKP3(dist=388042) chr11 42895012 42895012 T C het . 2 +intergenic LOC100507205(dist=681928),HNRNPKP3(dist=325886) chr11 42957168 42957168 A C het . 2 +intergenic LOC100507205(dist=946338),HNRNPKP3(dist=61476) chr11 43221578 43221578 G A het . 2 +ncRNA_intronic HNRNPKP3 chr11 43286676 43286676 T A het . 2 +ncRNA_intronic HNRNPKP3 chr11 43286765 43286768 AGAA - het . 3 +intergenic HNRNPKP3(dist=7344),API5(dist=35242) chr11 43298263 43298263 T C het . 1 +intronic API5 chr11 43339539 43339539 - TTTG het . 2 +intronic API5 chr11 43342282 43342283 AA - het . 22 +intronic TTC17 chr11 43474730 43474730 - AAAT het . 2 +intergenic TTC17(dist=42521),MIR670(dist=22202) chr11 43559004 43559004 G C het . 2 +intronic HSD17B12 chr11 43876435 43876435 A G het . 4 +intronic ALKBH3 chr11 43904877 43904877 A - het . 5 +ncRNA_exonic SEC14L1P1 chr11 43919778 43919778 C T het . 8 +ncRNA_exonic SEC14L1P1 chr11 43919786 43919786 C G het . 5 +intergenic ALKBH3-AS1(dist=12318),C11orf96(dist=9294) chr11 43954812 43954812 T C het . 3 +exonic C11orf96 chr11 43964513 43964513 C A het . 12 +UTR3 C11orf96(NM_001145033:c.*19G>A) chr11 43964842 43964842 G A het . 9 +exonic ACCSL chr11 44074567 44074567 C A het . 16 +exonic ACCSL chr11 44080210 44080210 T C het . 8 +intronic ACCS chr11 44096238 44096238 G A het . 9 +intronic EXT2 chr11 44117898 44117898 T G het . 2 +intronic EXT2 chr11 44228148 44228148 C T het . 2 +intronic EXT2 chr11 44245191 44245191 A C het . 1 +intronic ALX4 chr11 44314012 44314012 G C het . 2 +intronic ALX4 chr11 44314015 44314015 T C het . 2 +intergenic ALX4(dist=52205),CD82(dist=203247) chr11 44383894 44383894 A C het . 2 +intergenic ALX4(dist=137009),CD82(dist=118443) chr11 44468698 44468698 A G het . 1 +intronic CD82 chr11 44617142 44617142 G A het . 3 +intronic CD82 chr11 44639921 44639921 C T het . 2 +intergenic CD82(dist=35816),TSPAN18(dist=108839) chr11 44677131 44677137 TTTTTTT - het . 2 +intergenic CD82(dist=58638),TSPAN18(dist=86023) chr11 44699953 44699953 A G het . 1 +intergenic CD82(dist=108539),TSPAN18(dist=36122) chr11 44749854 44749854 T C het . 2 +intergenic LOC221122(dist=10407),PRDM11(dist=105579) chr11 45009985 45009985 T C het . 1 +intronic SYT13 chr11 45283168 45283168 C G het . 2 +exonic SYT13 chr11 45307645 45307645 C A het . 20 +intergenic LOC101928812(dist=9445),LOC399886(dist=5295) chr11 45387653 45387653 T C het . 3 +intergenic LOC399886(dist=25183),CHST1(dist=233997) chr11 45435242 45435242 T A het . 2 +intergenic LOC399886(dist=29036),CHST1(dist=230144) chr11 45439095 45439095 G A het . 2 +intergenic LOC399886(dist=197614),CHST1(dist=61566) chr11 45607673 45607673 G A het . 1 +exonic CRY2 chr11 45891639 45891639 C A het . 6 +intronic MAPK8IP1 chr11 45910251 45910251 T - het . 2 +intergenic PHF21A(dist=21800),LOC101928894(dist=28721) chr11 46164785 46164785 C A het . 12 +intergenic LOC101928894(dist=87541),CREB3L1(dist=12989) chr11 46286197 46286200 AAAA - het . 1 +intergenic LOC101928894(dist=87563),CREB3L1(dist=12970) chr11 46286219 46286219 A C het . 2 +intronic CREB3L1 chr11 46301723 46301723 T - het . 1 +intronic CREB3L1 chr11 46301748 46301748 G T het . 1 +intergenic CREB3L1(dist=4915),DGKZ(dist=6568) chr11 46347887 46347887 G A het . 2 +intronic AMBRA1 chr11 46450139 46450139 - T het . 16 +intronic AMBRA1 chr11 46450142 46450142 C - het . 16 +intronic AMBRA1 chr11 46450142 46450142 C T het . 16 +intronic ATG13 chr11 46686260 46686260 G A het . 2 +intronic ARHGAP1 chr11 46718663 46718663 T C het . 1 +intronic CKAP5 chr11 46812227 46812227 T C het . 16 +intronic CKAP5 chr11 46812258 46812258 G A het . 11 +intronic CKAP5 chr11 46817715 46817722 AAAAAAAA - het . 2 +intronic CKAP5 chr11 46837626 46837626 C - het . 4 +intronic CKAP5 chr11 46837634 46837634 T - het . 4 +ncRNA_exonic LRP4-AS1 chr11 46894830 46894830 C A het . 27 +intronic LRP4 chr11 46924174 46924174 T A het . 2 +intronic C11orf49 chr11 46976116 46976116 A G het . 2 +intronic C11orf49 chr11 46981980 46981980 G A het . 1 +intronic C11orf49 chr11 47158938 47158938 C T het . 17 +intronic PACSIN3 chr11 47200654 47200654 C T het . 10 +intronic PACSIN3 chr11 47200690 47200690 A C het . 8 +intronic DDB2 chr11 47251199 47251199 G A het . 6 +exonic ACP2 chr11 47267040 47267040 C G het . 23 +intronic NR1H3 chr11 47288198 47288198 T - het . 2 +intronic NR1H3 chr11 47289962 47289962 G T het . 3 +exonic MYBPC3 chr11 47372934 47372934 T C het . 19 +intronic RAPSN chr11 47460098 47460098 C T het . 2 +intronic RAPSN chr11 47462838 47462838 G - het . 2 +intronic CELF1 chr11 47523191 47523191 A T het . 1 +intronic CELF1 chr11 47523214 47523214 C A het . 2 +intronic CELF1 chr11 47550836 47550841 GGGACA - het . 2 +intronic NDUFS3 chr11 47602729 47602729 C T het . 3 +intergenic C1QTNF4(dist=14610),MTCH2(dist=8287) chr11 47630571 47630571 G A het . 2 +intergenic C1QTNF4(dist=14731),MTCH2(dist=8166) chr11 47630692 47630692 - AAAAAAG het . 4 +exonic MTCH2 chr11 47640429 47640429 G C het . 28 +intronic MTCH2 chr11 47652681 47652681 C A het . 9 +exonic AGBL2 chr11 47689228 47689228 C A het . 21 +intronic AGBL2 chr11 47699883 47699883 T C het . 3 +intronic FNBP4 chr11 47786953 47786953 A G het . 11 +intergenic FNBP4(dist=8876),NUP160(dist=1729) chr11 47797906 47797906 C T het . 7 +exonic NUP160 chr11 47809798 47809798 C A het . 28 +intronic NUP160 chr11 47813436 47813436 C T het . 7 +intronic NUP160 chr11 47840864 47840864 - A het . 7 +exonic NUP160 chr11 47869836 47869836 A G het . 23 +intergenic NUP160(dist=17754),PTPRJ(dist=114260) chr11 47887850 47887850 T - het . 2 +intronic PTPRJ chr11 48131555 48131555 G A het . 16 +exonic PTPRJ chr11 48142571 48142571 T G het . 6 +UTR3 PTPRJ(NM_002843:c.*3394_*3395insT) chr11 48192308 48192308 - T het . 2 +UTR3 PTPRJ(NM_002843:c.*3411G>T) chr11 48192325 48192325 G T het . 2 +intergenic PTPRJ(dist=37344),OR4B1(dist=8624) chr11 48229738 48229738 G T het . 2 +intergenic PTPRJ(dist=37348),OR4B1(dist=8620) chr11 48229742 48229742 T G het . 2 +intergenic OR4X2(dist=12388),OR4X1(dist=5458) chr11 48279955 48279955 C T het . 2 +intergenic OR4X1(dist=17733),OR4S1(dist=23712) chr11 48304063 48304063 G A het . 4 +intergenic OR4S1(dist=12774),OR4C3(dist=5015) chr11 48341478 48341478 A G het . 2 +intergenic OR4S1(dist=12781),OR4C3(dist=5008) chr11 48341485 48341485 T C het . 2 +upstream OR4C3(dist=70) chr11 48346423 48346423 A G het . 5 +upstream OR4C3(dist=66) chr11 48346427 48346427 T C het . 5 +exonic OR4C3 chr11 48346661 48346669 TTGCTGATC - het . 37 +exonic OR4C3 chr11 48346681 48346681 G A het . 34 +exonic OR4C45 chr11 48366958 48366958 T G het . 4 +exonic OR4C45 chr11 48366971 48366972 GG CA het . 5 +exonic OR4C45 chr11 48367455 48367455 G A het . 14 +exonic OR4C45 chr11 48367469 48367470 TG CA het . 11 +exonic OR4C45 chr11 48367474 48367474 A G het . 9 +exonic OR4C45 chr11 48373797 48373797 C T het . 23 +exonic OR4C45 chr11 48373805 48373805 G A het . 23 +exonic OR4C45 chr11 48373815 48373815 A G het . 23 +exonic OR4C45 chr11 48373817 48373817 C T het . 24 +exonic OR4C45 chr11 48373827 48373827 G A het . 27 +exonic OR4C45 chr11 48373833 48373834 GA AG het . 27 +intergenic OR4C45(dist=1661),OR4C5(dist=11189) chr11 48375660 48375660 T C het . 1 +intergenic OR4C45(dist=1716),OR4C5(dist=11134) chr11 48375715 48375715 G A het . 1 +intergenic OR4C45(dist=2799),OR4C5(dist=10051) chr11 48376798 48376798 - TGGC het . 2 +intergenic OR4C45(dist=2808),OR4C5(dist=10042) chr11 48376807 48376807 A G het . 2 +intergenic OR4C45(dist=2818),OR4C5(dist=10031) chr11 48376817 48376818 CA TG het . 1 +exonic OR4C5 chr11 48387186 48387186 A G het . 7 +exonic OR4C5 chr11 48387301 48387301 G A het . 21 +exonic OR4C5 chr11 48387424 48387424 G T het . 23 +exonic OR4C5 chr11 48387580 48387580 G T het . 16 +exonic OR4C5 chr11 48387582 48387582 C T het . 16 +exonic OR4C5 chr11 48387584 48387584 A T het . 16 +exonic OR4C5 chr11 48387591 48387591 A G het . 16 +exonic OR4C5 chr11 48387604 48387604 C T het . 17 +intergenic OR4A47(dist=251773),TRIM49B(dist=290105) chr11 48763047 48763047 G - het . 2 +intergenic OR4A47(dist=349129),TRIM49B(dist=192749) chr11 48860403 48860403 A G het . 2 +intergenic OR4A47(dist=350042),TRIM49B(dist=191836) chr11 48861316 48861316 G A het . 3 +intergenic OR4A47(dist=368503),TRIM49B(dist=173375) chr11 48879777 48879777 T - het . 2 +intergenic OR4A47(dist=390279),TRIM49B(dist=151599) chr11 48901553 48901553 A G het . 3 +intergenic OR4A47(dist=416380),TRIM49B(dist=125498) chr11 48927654 48927654 C T het . 2 +intergenic OR4A47(dist=434912),TRIM49B(dist=106966) chr11 48946186 48946186 G A het . 2 +intergenic OR4A47(dist=452242),TRIM49B(dist=89636) chr11 48963516 48963516 G A het . 3 +intergenic OR4A47(dist=458821),TRIM49B(dist=83057) chr11 48970095 48970095 G A het . 2 +intergenic OR4A47(dist=501559),TRIM49B(dist=40319) chr11 49012833 49012833 G A het . 17 +intronic TRIM49B chr11 49056627 49056627 - T het . 5 +intronic TRIM64C chr11 49076963 49076963 - A het . 15 +intronic TRIM64C chr11 49077012 49077012 C T het . 12 +intronic TRIM64C chr11 49077890 49077890 T - het . 8 +intergenic TRIM64C(dist=7913),FOLH1(dist=78069) chr11 49088577 49088577 - T het . 6 +intergenic TRIM64C(dist=40004),FOLH1(dist=45978) chr11 49120668 49120668 G A het . 5 +intergenic TRIM64C(dist=64255),FOLH1(dist=21727) chr11 49144919 49144919 C T het . 5 +intronic FOLH1 chr11 49192906 49192906 A - het . 4 +intronic FOLH1 chr11 49214499 49214499 G A het . 9 +intronic FOLH1 chr11 49229489 49229492 AAAC - het . 9 +ncRNA_intronic LOC440040 chr11 49700411 49700411 A C het . 2 +ncRNA_intronic LOC440040 chr11 49813519 49813519 G - het . 6 +ncRNA_exonic LOC440040 chr11 49831603 49831603 G - het . 21 +intergenic LOC440040(dist=25362),OR4C13(dist=116612) chr11 49857331 49857331 - A het . 7 +intergenic LOC440040(dist=28436),OR4C13(dist=113538) chr11 49860405 49860405 A T het . 3 +intergenic LOC440040(dist=63438),OR4C13(dist=78536) chr11 49895407 49895407 A T het . 11 +intergenic LOC440040(dist=65707),OR4C13(dist=76267) chr11 49897676 49897676 A T het . 11 +intergenic LOC440040(dist=128892),OR4C13(dist=13082) chr11 49960861 49960861 - A het . 3 +intergenic OR4C12(dist=36081),LOC441601(dist=198847) chr11 50040152 50040152 C T het . 2 +intergenic OR4C12(dist=39446),LOC441601(dist=195482) chr11 50043517 50043517 C - het . 1 +intergenic OR4C12(dist=125689),LOC441601(dist=109239) chr11 50129760 50129760 T C het . 18 +intergenic OR4C12(dist=125752),LOC441601(dist=109176) chr11 50129823 50129823 C T het . 16 +intergenic OR4C12(dist=142897),LOC441601(dist=92031) chr11 50146968 50146968 G C het . 8 +intergenic OR4C12(dist=201733),LOC441601(dist=33195) chr11 50205804 50205804 - TTCA het . 15 +intergenic OR4C12(dist=201856),LOC441601(dist=33072) chr11 50205927 50205927 A G het . 5 +intergenic OR4C12(dist=202252),LOC441601(dist=32676) chr11 50206323 50206323 C T het . 5 +intergenic OR4C12(dist=224919),LOC441601(dist=10009) chr11 50228990 50228990 A - het . 2 +intergenic LOC646813(dist=35264),OR4A5(dist=996312) chr11 50415066 50415066 C T het . 3 +intergenic LOC646813(dist=165931),OR4A5(dist=865645) chr11 50545733 50545733 G A het . 2 +intergenic LOC646813(dist=165958),OR4A5(dist=865618) chr11 50545760 50545760 G A het . 2 +intergenic LOC646813(dist=297524),OR4A5(dist=734052) chr11 50677326 50677326 A C het . 2 +intergenic LOC646813(dist=332640),OR4A5(dist=698936) chr11 50712442 50712442 T G het . 2 +intergenic LOC646813(dist=342881),OR4A5(dist=688695) chr11 50722683 50722683 A G het . 3 +intergenic LOC646813(dist=342884),OR4A5(dist=688692) chr11 50722686 50722686 G A het . 3 +intergenic LOC646813(dist=342896),OR4A5(dist=688680) chr11 50722698 50722698 A G het . 3 +intergenic LOC646813(dist=342908),OR4A5(dist=688668) chr11 50722710 50722710 A - het . 3 +intergenic LOC646813(dist=932782),OR4A5(dist=98794) chr11 51312584 51312584 C A het . 1 +intergenic OR4A5(dist=70856),OR4C46(dist=31978) chr11 51483304 51483304 C T het . 3 +intergenic OR4C46(dist=53914),NONE(dist=NONE) chr11 51570125 51570125 G A het . 8 +intergenic OR4C46(dist=53926),NONE(dist=NONE) chr11 51570137 51570137 T C het . 9 +intergenic OR4C46(dist=63447),NONE(dist=NONE) chr11 51579658 51579658 T C het . 9 +intergenic OR4C46(dist=63469),NONE(dist=NONE) chr11 51579680 51579680 G - het . 9 +intergenic NONE(dist=NONE),TRIM48(dist=17028) chr11 55012630 55012630 G A het . 3 +intergenic TRIM48(dist=20909),TRIM51HP(dist=1675) chr11 55059504 55059504 C A het . 3 +upstream OR4C15(dist=68) chr11 55321715 55321715 A T het . 7 +downstream OR5D13(dist=403) chr11 55542261 55542261 C G het . 2 +intergenic OR5D16(dist=17146),TRIM51(dist=26413) chr11 55624360 55624360 T C het . 1 +exonic OR5W2 chr11 55681198 55681198 G A het . 24 +intergenic OR5W2(dist=2423),OR5I1(dist=18451) chr11 55684481 55684481 A T het . 2 +intergenic OR5W2(dist=6099),OR5I1(dist=14775) chr11 55688157 55688157 C T het . 2 +exonic OR5F1 chr11 55761738 55761738 T G het . 6 +exonic OR8I2 chr11 55861523 55861523 T C het . 17 +upstream OR8H2(dist=196) chr11 55872322 55872323 TG GT het . 2 +exonic OR8H2 chr11 55872876 55872876 C T het . 10 +intergenic OR8H3(dist=9657),OR8J3(dist=3803) chr11 55900444 55900444 C G het . 2 +intergenic OR8H3(dist=9690),OR8J3(dist=3770) chr11 55900477 55900477 A G het . 2 +exonic OR8J3 chr11 55904659 55904659 C A het . 12 +upstream OR5J2(dist=46) chr11 55944048 55944048 G C het . 18 +upstream OR5T3(dist=91) chr11 56019585 56019585 A T het . 1 +downstream OR8U1,OR8U8(dist=98) chr11 56144127 56144127 T C het . 6 +exonic OR5R1 chr11 56185327 56185327 T C het . 17 +exonic OR5R1 chr11 56185345 56185345 A G het . 14 +exonic OR5R1 chr11 56185376 56185376 C A het . 16 +intergenic OR5AP2(dist=10114),OR5AR1(dist=11133) chr11 56420029 56420029 G A het . 1 +intergenic OR5AR1(dist=11736),OR9G9(dist=24034) chr11 56443830 56443830 C T het . 3 +intergenic OR5AR1(dist=11741),OR9G9(dist=24029) chr11 56443835 56443835 C T het . 3 +intergenic OR5AR1(dist=27076),OR9G9(dist=8694) chr11 56459170 56459170 A T het . 2 +exonic OR9G1,OR9G9 chr11 56468416 56468416 G A het . 23 +exonic OR9G1,OR9G9 chr11 56468440 56468440 G T het . 26 +exonic OR9G1,OR9G9 chr11 56468448 56468449 AA GT het . 30 +exonic OR9G1,OR9G9 chr11 56468452 56468452 A C het . 28 +exonic OR9G1,OR9G9 chr11 56468493 56468493 A G het . 33 +downstream OR9G1,OR9G9(dist=36) chr11 56468817 56468817 G T het . 6 +downstream OR9G1,OR9G9(dist=38) chr11 56468819 56468820 CC TT het . 6 +downstream OR9G1,OR9G9(dist=47) chr11 56468828 56468828 G C het . 4 +downstream OR9G1,OR9G9(dist=51) chr11 56468832 56468832 G T het . 2 +downstream OR9G1,OR9G9(dist=54) chr11 56468835 56468835 G T het . 2 +intergenic OR9G9(dist=39031),OR9G4(dist=2492) chr11 56507812 56507812 A G het . 19 +intergenic MIR6128(dist=77928),LOC101927120(dist=26569) chr11 56589385 56589385 T A het . 1 +intergenic APLNR(dist=56518),TNKS1BP1(dist=5658) chr11 57061445 57061445 G C het . 1 +intronic TNKS1BP1 chr11 57070324 57070324 G A het . 1 +intronic SSRP1 chr11 57094843 57094844 AA - het . 13 +intronic P2RX3 chr11 57135466 57135466 C G het . 12 +exonic PRG3 chr11 57148175 57148175 A G het . 6 +intergenic PRG2(dist=12789),SLC43A3(dist=3508) chr11 57170919 57170919 G A het . 4 +intergenic PRG2(dist=12792),SLC43A3(dist=3505) chr11 57170922 57170922 A G het . 3 +UTR3 SLC43A3(NM_001278206:c.*32T>C,NM_001278201:c.*32T>C,NM_199329:c.*32T>C,NM_014096:c.*32T>C,NM_017611:c.*32T>C) chr11 57175233 57175233 A G het . 9 +intronic SLC43A3 chr11 57191075 57191075 T - het . 2 +intergenic SLC43A3(dist=20354),RTN4RL2(dist=12603) chr11 57215407 57215407 G A het . 6 +intronic RTN4RL2 chr11 57229638 57229638 T C het . 1 +intronic SMTNL1 chr11 57313659 57313659 G A het . 1 +intronic YPEL4 chr11 57413943 57413943 C G het . 4 +upstream CLP1(dist=826) chr11 57424390 57424390 A - het . 6 +exonic CTNND1 chr11 57582924 57582924 G A het . 18 +intronic OR9Q1 chr11 57828081 57828081 T A het . 2 +exonic OR9I1 chr11 57886280 57886280 C T het . 32 +intronic OR9Q1 chr11 57921577 57921577 G C het . 3 +exonic OR9Q1 chr11 57947505 57947505 G C het . 22 +exonic OR9Q2 chr11 57958181 57958181 C T het . 22 +exonic OR9Q2 chr11 57958414 57958414 C A het . 30 +exonic OR1S1 chr11 57982559 57982559 T A het . 25 +exonic OR1S1 chr11 57982584 57982584 T C het . 25 +intergenic OR10W1(dist=34386),OR5B17(dist=55480) chr11 58070118 58070118 - ATTTT het . 2 +exonic OR5B2 chr11 58190611 58190611 C T het . 16 +ncRNA_intronic ZFP91-CNTF chr11 58380192 58380192 - T het . 12 +intronic GLYAT chr11 58486917 58486917 C A het . 1 +intronic GLYAT chr11 58492074 58492074 T - het . 2 +intronic GLYATL2 chr11 58605922 58605922 A G het . 2 +intergenic GLYATL2(dist=20592),GLYATL1(dist=40282) chr11 58632589 58632589 C T het . 2 +intergenic GLYATL2(dist=20625),GLYATL1(dist=40249) chr11 58632622 58632622 - AA het . 2 +intergenic GLYATL2(dist=33740),GLYATL1(dist=27134) chr11 58645737 58645737 C T het . 3 +UTR5 GLYATL1(NM_001354699:c.-39612_-39609del-) chr11 58674949 58674952 TTTG - het . 5 +ncRNA_intronic FAM111A-DT chr11 58909387 58909387 - AGAA het . 2 +exonic FAM111A chr11 58919813 58919813 A G het . 15 +intergenic MPEG1(dist=44528),OR5AN1(dist=106910) chr11 59025022 59025022 C T het . 2 +intergenic MPEG1(dist=48991),OR5AN1(dist=102447) chr11 59029485 59029485 T C het . 2 +intergenic MPEG1(dist=114069),OR5AN1(dist=37369) chr11 59094563 59094563 G A het . 2 +intronic OSBP chr11 59344199 59344199 G A het . 9 +intronic PATL1 chr11 59419125 59419125 A - het . 12 +intronic TCN1 chr11 59622102 59622102 C G het . 12 +intronic TCN1 chr11 59626478 59626478 A - het . 17 +intergenic TCN1(dist=61483),OOSP1(dist=14828) chr11 59695524 59695524 G A het . 5 +UTR3 MS4A3(NM_001031809:c.*15_*16insTATGAAAA,NM_001031666:c.*15_*16insTATGAAAA,NM_006138:c.*15_*16insTATGAAAA) chr11 59837721 59837721 - TATGAAAA het . 17 +intronic MS4A6A chr11 59946302 59946302 C T het . 15 +intronic MS4A6A chr11 59946311 59946311 A - het . 10 +intergenic MS4A6E(dist=3944),MS4A7(dist=33573) chr11 60112385 60112385 T - het . 2 +UTR3 MS4A7(NM_021201:c.*915C>T,NM_206940:c.*915C>T,NM_206939:c.*915C>T,NM_206938:c.*915C>T) chr11 60162249 60162249 C T het . 9 +exonic MS4A14 chr11 60165353 60165354 TT - het . 22 +intronic MS4A14 chr11 60172076 60172076 T C het . 16 +intronic MS4A14 chr11 60172087 60172087 C T het . 16 +exonic MS4A5 chr11 60197244 60197244 T - het . 18 +intronic MS4A5 chr11 60215066 60215066 C A het . 7 +exonic MS4A1 chr11 60229974 60229974 A G het . 24 +upstream MS4A13(dist=962) chr11 60281924 60281924 T G het . 3 +upstream MS4A13(dist=958) chr11 60281928 60281928 T - het . 3 +intronic MS4A15 chr11 60526573 60526573 A C het . 4 +exonic MS4A15 chr11 60535099 60535099 G A het . 5 +intergenic MS4A10(dist=15081),CCDC86(dist=25570) chr11 60583859 60583859 T A het . 1 +upstream CCDC86(dist=590) chr11 60608839 60608839 T C het . 2 +exonic ZP1 chr11 60638470 60638470 A G het . 3 +intronic ZP1 chr11 60641368 60641368 T G het . 3 +intergenic SLC15A3(dist=6053),CD6(dist=13803) chr11 60725310 60725310 - AAG het . 2 +intronic CD6 chr11 60750299 60750309 TCTGCAGGGAC - het . 6 +intronic CD6 chr11 60783126 60783126 C T het . 3 +intronic CD6 chr11 60783135 60783135 A G het . 3 +intronic CD6 chr11 60785038 60785038 A G het . 10 +exonic CD6 chr11 60785317 60785317 C T het . 19 +exonic CD6 chr11 60785352 60785352 A G het . 33 +intronic CD5 chr11 60885619 60885619 A C het . 4 +intronic CD5 chr11 60885625 60885625 A C het . 5 +intronic CD5 chr11 60885628 60885628 A C het . 6 +intronic CD5 chr11 60885630 60885630 A C het . 6 +exonic VPS37C chr11 60899767 60899767 A G het . 1 +intergenic VPS37C(dist=17444),PGA3(dist=24623) chr11 60946360 60946362 TTT - het . 3 +intronic VWCE chr11 61029277 61029277 A - het . 3 +UTR3 TMEM216(NM_001173990:c.*107G>T,NM_001173991:c.*107G>T,NM_001330285:c.*107G>T,NM_016499:c.*107G>T) chr11 61165855 61165855 G T het . 6 +UTR5 CPSF7(NM_001142565:c.-754delG,NM_001136040:c.-754delG) chr11 61197461 61197461 C - het . 3 +intronic SDHAF2 chr11 61197725 61197725 T G het . 12 +intronic PPP1R32 chr11 61254376 61254376 G C het . 4 +intronic SYT7 chr11 61295665 61295665 T G het . 6 +ncRNA_exonic RPLP0P2 chr11 61404336 61404336 G A het . 37 +ncRNA_exonic RPLP0P2 chr11 61404356 61404356 C A het . 38 +intergenic RPLP0P2(dist=3909),DAGLA(dist=37075) chr11 61410830 61410830 G A het . 1 +intronic DAGLA chr11 61466726 61466726 C T het . 2 +UTR5 TMEM258(NM_014206:c.-38C>G) chr11 61560068 61560068 G C het . 10 +UTR5 TMEM258(NM_014206:c.-51C>T) chr11 61560081 61560081 G A het . 9 +intronic FADS1 chr11 61581439 61581439 A - het . 1 +intronic FADS1 chr11 61581450 61581450 A G het . 2 +intronic BEST1 chr11 61725599 61725599 - TCCTCC het . 16 +UTR3 BEST1(NM_001363592:c.*1732delA,NM_001363591:c.*842delA,NM_001363593:c.*842delA) chr11 61731463 61731463 A - het . 5 +intronic INCENP chr11 61894482 61894482 A G het . 2 +intronic INCENP chr11 61895541 61895541 A G het . 2 +intronic INCENP chr11 61917731 61917731 C T het . 4 +intronic SCGB2A1 chr11 61977859 61977866 TTTTTTTT - het . 3 +intergenic SCGB2A2(dist=3300),SCGB1D4(dist=19825) chr11 62043929 62043929 C T het . 1 +intergenic SCGB1D4(dist=32398),ASRGL1(dist=5840) chr11 62098934 62098934 - GAT het . 26 +intronic ASRGL1 chr11 62138748 62138750 GCA - het . 9 +intronic ASRGL1 chr11 62158886 62158886 G T het . 2 +intronic ASRGL1 chr11 62158924 62158924 C T het . 6 +intronic AHNAK chr11 62245897 62245897 G T het . 3 +exonic AHNAK chr11 62287229 62287229 C A het . 20 +exonic AHNAK chr11 62287233 62287233 T A het . 21 +exonic AHNAK chr11 62297481 62297481 C A het . 41 +intronic EML3 chr11 62375980 62375980 G A het . 8 +exonic ROM1 chr11 62381106 62381106 G C het . 8 +exonic ROM1 chr11 62381825 62381825 G A het . 16 +intronic GANAB chr11 62396642 62396642 A C het . 8 +intronic C11orf98,LBHD1 chr11 62430659 62430659 T A het . 21 +intronic UQCC3 chr11 62439368 62439368 T G het . 15 +intronic UBXN1 chr11 62444798 62444798 T G het . 4 +ncRNA_exonic HNRNPUL2-BSCL2 chr11 62457740 62457740 C A het . 14 +ncRNA_intronic HNRNPUL2-BSCL2 chr11 62474515 62474517 CCC - het . 5 +ncRNA_intronic HNRNPUL2-BSCL2 chr11 62474883 62474883 T G het . 15 +ncRNA_intronic HNRNPUL2-BSCL2 chr11 62479605 62479605 A T het . 2 +ncRNA_intronic HNRNPUL2-BSCL2 chr11 62479607 62479607 T A het . 2 +ncRNA_intronic HNRNPUL2-BSCL2 chr11 62488916 62488916 - G het . 3 +intergenic TTC9C(dist=7893),ZBTB3(dist=4434) chr11 62514001 62514001 T G het . 2 +intronic TMEM179B chr11 62555242 62555242 A G het . 3 +intronic NXF1 chr11 62561702 62561702 C A het . 1 +intronic STX5 chr11 62592740 62592740 G A het . 15 +intergenic SLC22A8(dist=32107),SLC22A24(dist=31988) chr11 62815424 62815424 C T het . 7 +exonic SLC22A24 chr11 62863518 62863518 A G het . 23 +intronic SLC22A24 chr11 62883681 62883681 G A het . 3 +intronic SLC22A24 chr11 62903823 62903823 T A het . 10 +exonic SLC22A24 chr11 62911079 62911079 G C het . 5 +intronic SLC22A10 chr11 63064970 63064970 T G het . 6 +intronic SLC22A10 chr11 63064991 63064991 T A het . 9 +intronic SLC22A10 chr11 63072119 63072119 T - het . 9 +intergenic SLC22A10(dist=30576),SLC22A9(dist=27439) chr11 63109822 63109822 G A het . 2 +intergenic SLC22A9(dist=41114),HRASLS5(dist=10050) chr11 63218826 63218826 G A het . 2 +exonic HRASLS5 chr11 63258416 63258416 T C het . 4 +upstream RARRES3(dist=203) chr11 63304070 63304070 G T het . 6 +UTR3 RARRES3(NM_004585:c.*86C>T) chr11 63313814 63313814 C T het . 6 +intronic ATL3 chr11 63413963 63413966 AAAT - het . 18 +intronic ATL3 chr11 63420095 63420095 G A het . 14 +intronic RTN3 chr11 63480794 63480794 A C het . 1 +intronic RTN3 chr11 63480798 63480798 A C het . 1 +intronic SPINDOC chr11 63590450 63590450 T G het . 6 +intronic MARK2 chr11 63617634 63617634 T G het . 3 +intronic MARK2 chr11 63663131 63663142 TTTTTTTTTTTT - het . 13 +intergenic RCOR2(dist=19664),NAA40(dist=2457) chr11 63703980 63703985 TTTTAT - het . 3 +intergenic NAA40(dist=10117),COX8A(dist=7171) chr11 63734908 63734908 T A het . 2 +upstream OTUB1(dist=346) chr11 63752979 63752979 T A het . 3 +upstream OTUB1(dist=343) chr11 63752982 63752982 G A het . 3 +intronic FLRT1,MACROD1 chr11 63883169 63883169 C A het . 2 +intronic MACROD1 chr11 63930141 63930141 T G het . 3 +intronic DNAJC4 chr11 63997883 63997883 T - het . 12 +exonic PLCB3 chr11 64026685 64026685 C T het . 2 +exonic CCDC88B chr11 64117075 64117075 A G het . 19 +UTR3 CCDC88B(NM_032251:c.*374T>G) chr11 64124940 64124940 T G het . 5 +intronic SLC22A12 chr11 64361384 64361384 G T het . 2 +intronic SLC22A12 chr11 64366260 64366260 A C het . 4 +intronic SLC22A12 chr11 64366264 64366264 A C het . 4 +exonic NRXN2 chr11 64417937 64417937 C T het . 19 +intronic NRXN2 chr11 64444513 64444513 C A het . 16 +intronic NRXN2 chr11 64460554 64460554 C A het . 11 +intronic RASGRP2 chr11 64496587 64496587 T C het . 2 +intronic RASGRP2 chr11 64497161 64497161 C T het . 25 +intronic RASGRP2 chr11 64497186 64497189 AAAA - het . 22 +intronic RASGRP2 chr11 64497189 64497189 A C het . 13 +intronic RASGRP2 chr11 64503179 64503179 A G het . 8 +intronic RASGRP2 chr11 64509463 64509463 C A het . 12 +intronic SF1 chr11 64536866 64536866 T C het . 8 +intronic CDC42BPG chr11 64597595 64597595 C T het . 2 +intronic CDC42BPG chr11 64602782 64602782 C T het . 4 +UTR3 EHD1(NM_001282445:c.*2G>T,NM_001282444:c.*2G>T,NM_006795:c.*2G>T) chr11 64621803 64621803 C A het . 6 +intronic MAJIN chr11 64715331 64715332 TT - het . 16 +intronic MAJIN chr11 64717371 64717371 A G het . 21 +exonic SAC3D1 chr11 64808852 64808852 C A het . 16 +intergenic NAALADL1(dist=17762),CDCA5(dist=1156) chr11 64843771 64843771 - AG het . 2 +intronic ZFPL1 chr11 64852717 64852717 G - het . 16 +intergenic TMEM262(dist=4860),VPS51(dist=2146) chr11 64861441 64861441 - TTTG het . 5 +intronic TM7SF2 chr11 64882163 64882163 T C het . 6 +exonic CAPN1 chr11 64950361 64950361 G C het . 15 +intronic CAPN1 chr11 64960112 64960112 T - het . 2 +intronic LTBP3 chr11 65314097 65314097 G C het . 11 +exonic LTBP3 chr11 65321251 65321251 T G het . 10 +exonic LTBP3 chr11 65325325 65325325 - CAGCAG het . 10 +intronic KAT5 chr11 65484569 65484569 A G het . 2 +UTR3 EFEMP2(NM_016938:c.*118T>G) chr11 65634271 65634271 A C het . 14 +upstream CTSW(dist=24) chr11 65647260 65647260 A G het . 3 +intronic FIBP chr11 65651830 65651830 A G het . 4 +intronic FIBP chr11 65654918 65654918 A - het . 3 +intronic FIBP chr11 65655259 65655259 - CC het . 3 +exonic TSGA10IP chr11 65713207 65713207 T C het . 13 +intronic CATSPER1 chr11 65789137 65789137 C G het . 17 +upstream CATSPER1(dist=470) chr11 65794458 65794458 - TTG het . 2 +intergenic CATSPER1(dist=8855),GAL3ST3(dist=5390) chr11 65802843 65802846 TTTG - het . 3 +intronic SF3B2 chr11 65827133 65827133 G T het . 7 +intronic PACS1 chr11 65868310 65868310 T A het . 18 +intronic KLC2 chr11 66031450 66031450 T C het . 4 +exonic KLC2 chr11 66031553 66031553 C A het . 10 +intergenic SLC29A2(dist=2899),NPAS4(dist=45614) chr11 66142846 66142861 GATGATGATGATGATG - het . 2 +intergenic SLC29A2(dist=2917),NPAS4(dist=45611) chr11 66142864 66142864 G T het . 2 +intergenic SLC29A2(dist=9763),NPAS4(dist=38765) chr11 66149710 66149710 - A het . 3 +intronic BBS1 chr11 66283257 66283257 C T het . 18 +intronic BBS1,ZDHHC24 chr11 66298352 66298352 A C het . 17 +exonic ACTN3 chr11 66329732 66329732 A G het . 12 +intronic SPTBN2 chr11 66457767 66457767 G A het . 5 +exonic SPTBN2 chr11 66469088 66469088 C T het . 20 +exonic SPTBN2 chr11 66483386 66483386 G A het . 34 +exonic C11orf80 chr11 66512290 66512290 - GGC het . 3 +intronic C11orf80 chr11 66608521 66608521 G C het . 2 +intronic SYT12 chr11 66807251 66807251 A T het . 2 +intronic KDM2A chr11 66956043 66956043 C A het . 4 +exonic KDM2A chr11 67021066 67021066 A G het . 7 +intronic ANKRD13D chr11 67057093 67057093 C - het . 4 +intronic ANKRD13D chr11 67057104 67057104 C G het . 4 +exonic ANKRD13D chr11 67069651 67069651 A C het . 11 +ncRNA_intronic LOC100130987 chr11 67141489 67141489 - C het . 2 +UTR3 CARNS1(NM_020811:c.*307C>T,NM_001166222:c.*307C>T) chr11 67192379 67192379 C T het . 5 +intronic PITPNM1 chr11 67262289 67262289 G A het . 3 +intronic CABP2 chr11 67287469 67287469 C T het . 6 +intergenic CABP2(dist=52659),GSTP1(dist=7508) chr11 67343558 67343558 A G het . 1 +ncRNA_exonic C11orf72 chr11 67372099 67372099 G C het . 21 +exonic NDUFV1 chr11 67378493 67378494 CC TT het . 21 +intergenic DOC2GP(dist=10629),NUDT8(dist=1645) chr11 67393764 67393764 A T het . 2 +intronic ALDH3B2 chr11 67433916 67433916 C A het . 7 +intergenic ALDH3B2(dist=45852),FAM86C2P(dist=64691) chr11 67494547 67494547 G A het . 2 +intergenic ALDH3B2(dist=107165),FAM86C2P(dist=3378) chr11 67555860 67555860 G A het . 2 +intergenic ALDH3B2(dist=107178),FAM86C2P(dist=3365) chr11 67555873 67555873 C T het . 2 +intergenic ALDH3B2(dist=107188),FAM86C2P(dist=3355) chr11 67555883 67555883 A G het . 1 +downstream FAM86C2P(dist=713) chr11 67558525 67558525 T C het . 3 +ncRNA_intronic FAM86C2P chr11 67564135 67564135 G C het . 9 +intronic LRP5 chr11 68156821 68156821 T C het . 2 +intronic LRP5 chr11 68177708 68177708 G A het . 2 +intronic LRP5 chr11 68177728 68177728 C T het . 2 +intronic PPP6R3 chr11 68333705 68333705 - GCTGCTGCT het . 11 +intergenic GAL(dist=11026),TESMIN(dist=5239) chr11 68469669 68469669 - AACA het . 3 +intronic CPT1A chr11 68566839 68566839 G A het . 22 +intergenic CPT1A(dist=31591),MRPL21(dist=17756) chr11 68640990 68640990 G A het . 1 +intergenic CPT1A(dist=31619),MRPL21(dist=17728) chr11 68641018 68641018 G C het . 1 +intronic MRPL21 chr11 68664164 68664164 T G het . 11 +intronic MRPL21 chr11 68668126 68668126 C A het . 12 +intronic IGHMBP2 chr11 68675469 68675469 T - het . 12 +intronic IGHMBP2 chr11 68675512 68675512 G C het . 13 +exonic IGHMBP2 chr11 68675801 68675807 AAAAAGT - het . 25 +exonic IGHMBP2 chr11 68703959 68703959 A G het . 12 +exonic IGHMBP2 chr11 68704263 68704264 CC AT het . 20 +exonic IGHMBP2 chr11 68704264 68704264 C T het . 19 +intergenic MRGPRF-AS1(dist=13707),TPCN2(dist=16727) chr11 68799623 68799623 C T het . 2 +exonic TPCN2 chr11 68822739 68822739 T C het . 11 +intronic TPCN2 chr11 68831293 68831293 C G het . 2 +intronic TPCN2 chr11 68846140 68846140 C A het . 6 +exonic TPCN2 chr11 68854012 68854012 A G het . 26 +intergenic LOC338694(dist=50033),MYEOV(dist=72542) chr11 68989063 68989063 A G het . 3 +exonic MYEOV chr11 69063136 69063136 C T het . 22 +intergenic CCND1(dist=3195),LTO1(dist=7895) chr11 69472437 69472437 - A het . 14 +intergenic FGF19(dist=3669),FGF4(dist=63009) chr11 69522775 69522775 G A het . 2 +intergenic FGF19(dist=27448),FGF4(dist=39230) chr11 69546554 69546554 G - het . 4 +intronic FGF4 chr11 69588729 69588729 G A het . 6 +exonic FGF3 chr11 69633650 69633650 C T het . 13 +intergenic FGF3(dist=65788),LOC101928443(dist=202356) chr11 69699980 69699980 C G het . 1 +intergenic FGF3(dist=212177),LOC101928443(dist=55967) chr11 69846369 69846369 A T het . 2 +intergenic FGF3(dist=221524),LOC101928443(dist=46620) chr11 69855716 69855716 - G het . 2 +intergenic FGF3(dist=221525),LOC101928443(dist=46619) chr11 69855717 69855717 T A het . 2 +intergenic FGF3(dist=221531),LOC101928443(dist=46613) chr11 69855723 69855723 G A het . 2 +intergenic FGF3(dist=266617),LOC101928443(dist=1527) chr11 69900809 69900809 A G het . 2 +intronic ANO1 chr11 69949370 69949370 - A het . 4 +intronic ANO1 chr11 69970637 69970637 A G het . 3 +intronic ANO1 chr11 70002186 70002186 T - het . 4 +intergenic FADD(dist=29732),PPFIA1(dist=33562) chr11 70083240 70083244 AAAAT - het . 2 +intergenic FADD(dist=30473),PPFIA1(dist=32825) chr11 70083981 70083981 A - het . 2 +intergenic FADD(dist=36345),PPFIA1(dist=26953) chr11 70089853 70089853 A C het . 2 +intronic SHANK2 chr11 70410371 70410371 T C het . 2 +intronic SHANK2 chr11 70438605 70438605 C T het . 3 +intronic SHANK2 chr11 70438608 70438608 T C het . 3 +intronic SHANK2 chr11 70520292 70520292 T C het . 4 +intronic SHANK2 chr11 70742841 70742841 A G het . 3 +intronic SHANK2 chr11 70753851 70753851 G A het . 6 +intronic SHANK2 chr11 70877528 70877528 C T het . 2 +intronic SHANK2 chr11 70929202 70929202 G A het . 3 +intronic DHCR7 chr11 71149137 71149137 G A het . 2 +intronic DHCR7 chr11 71149856 71149856 C T het . 4 +exonic NADSYN1 chr11 71169547 71169547 G C het . 16 +intronic NADSYN1 chr11 71174452 71174452 A G het . 3 +intergenic KRTAP5-10(dist=2270),KRTAP5-11(dist=12965) chr11 71279936 71279936 A C het . 25 +exonic KRTAP5-11 chr11 71293560 71293560 T G het . 30 +intergenic KRTAP5-11(dist=6858),FAM86C1(dist=197778) chr11 71300779 71300779 C T het . 3 +intergenic KRTAP5-11(dist=56138),FAM86C1(dist=148498) chr11 71350059 71350059 G T het . 14 +intergenic KRTAP5-11(dist=56904),FAM86C1(dist=147732) chr11 71350825 71350825 G C het . 4 +intergenic KRTAP5-11(dist=182139),FAM86C1(dist=22497) chr11 71476060 71476060 G T het . 2 +ncRNA_intronic ALG1L9P chr11 71512740 71512740 G T het . 7 +exonic RNF121 chr11 71668305 71668305 A G het . 28 +intronic IL18BP chr11 71712175 71712175 G A het . 3 +exonic NUMA1 chr11 71719779 71719779 C A het . 24 +ncRNA_exonic LOC100128494 chr11 71728909 71728914 GTCAAC - het . 6 +intronic NUMA1 chr11 71733519 71733519 C T het . 2 +intronic NUMA1 chr11 71764857 71764857 A G het . 6 +intronic NUMA1 chr11 71775894 71775894 - C het . 4 +intronic LRTOMT chr11 71797422 71797422 T A het . 10 +intergenic ANAPC15(dist=20786),FOLR3(dist=2144) chr11 71844612 71844612 C T het . 3 +intergenic FOLR1(dist=18207),FOLR2(dist=2245) chr11 71925574 71925574 C A het . 1 +intronic FOLR2 chr11 71932120 71932120 G C het . 1 +intronic INPPL1 chr11 71948084 71948084 C T het . 2 +intronic CLPB chr11 72005612 72005612 A C het . 12 +intronic PDE2A chr11 72295209 72295209 T C het . 2 +intronic PDE2A chr11 72295212 72295212 C A het . 4 +intronic PDE2A chr11 72295218 72295218 A C het . 5 +intronic PDE2A chr11 72296039 72296039 G T het . 6 +intronic PDE2A chr11 72296700 72296700 C T het . 4 +intronic ARAP1 chr11 72397009 72397009 A G het . 6 +intronic ARAP1 chr11 72407977 72407977 C A het . 4 +intronic FCHSD2 chr11 72609119 72609119 T C het . 1 +intronic P2RY2 chr11 72942438 72942439 AA - het . 1 +exonic ARHGEF17 chr11 73020662 73020662 C A het . 15 +intronic ARHGEF17 chr11 73048755 73048755 A G het . 1 +intronic RELT chr11 73100232 73100232 C T het . 4 +intergenic PLEKHB1(dist=9518),RAB6A(dist=3301) chr11 73383382 73383382 T C het . 1 +intronic MRPL48 chr11 73526908 73526908 G A het . 2 +intronic MRPL48 chr11 73555476 73555476 A T het . 2 +intronic MRPL48 chr11 73555656 73555656 C A het . 5 +intronic PAAF1 chr11 73638291 73638291 - CC het . 7 +intronic DNAJB13 chr11 73670796 73670800 TTATT - het . 2 +exonic UCP2 chr11 73689104 73689104 G A het . 5 +intronic PPME1 chr11 73906711 73906711 C A het . 2 +exonic LOC100287896 chr11 74208592 74208592 G T het . 34 +intergenic LOC100287896(dist=75790),POLD3(dist=18207) chr11 74285368 74285368 C A het . 4 +intergenic LOC100287896(dist=80689),POLD3(dist=13308) chr11 74290267 74290267 A G het . 3 +intergenic LOC100287896(dist=80694),POLD3(dist=13303) chr11 74290272 74290272 A G het . 3 +exonic POLD3 chr11 74329615 74329615 T C het . 11 +intergenic POLD3(dist=10422),CHRDL2(dist=42946) chr11 74364527 74364527 C T het . 1 +intronic CHRDL2 chr11 74428158 74428158 A C het . 4 +intronic CHRDL2 chr11 74436701 74436701 C A het . 3 +intronic XRRA1 chr11 74638605 74638605 T C het . 8 +intronic SPCS2 chr11 74674613 74674616 TTTA - het . 19 +exonic NEU3 chr11 74717217 74717217 A C het . 13 +exonic OR2AT4 chr11 74799966 74799966 C A het . 12 +intergenic OR2AT4(dist=41859),SLCO2B1(dist=19415) chr11 74842617 74842617 T G het . 2 +intergenic OR2AT4(dist=41865),SLCO2B1(dist=19409) chr11 74842623 74842623 T A het . 1 +exonic ARRB1 chr11 74992157 74992157 G A het . 16 +intergenic ARRB1(dist=8300),RPS3(dist=39360) chr11 75071175 75071175 T C het . 1 +splicing MAP6(NM_033063:exon3:c.1120-1G>T,NM_207577:exon3:c.1120-1G>T) chr11 75317050 75317050 C A het . 11 +intronic UVRAG chr11 75583416 75583416 - A het . 2 +intronic UVRAG chr11 75715251 75715251 C A het . 7 +intronic UVRAG chr11 75751516 75751516 A - het . 2 +intergenic WNT11(dist=49895),THAP12(dist=93529) chr11 75967469 75967472 AGGA - het . 1 +exonic THAP12 chr11 76072076 76072076 G A het . 7 +exonic THAP12 chr11 76072085 76072085 C T het . 8 +intronic GVQW3 chr11 76112085 76112085 A T het . 1 +exonic EMSY chr11 76234319 76234319 C A het . 19 +ncRNA_intronic GUCY2EP chr11 76418737 76418737 A G het . 2 +ncRNA_intronic GUCY2EP chr11 76428055 76428055 A G het . 2 +intergenic TSKU(dist=50557),ACER3(dist=12159) chr11 76559755 76559758 AAAG - het . 3 +intergenic TSKU(dist=58261),ACER3(dist=4458) chr11 76567459 76567459 A G het . 2 +intronic ACER3 chr11 76578721 76578721 T C het . 2 +intronic ACER3 chr11 76579420 76579423 TCTC - het . 6 +intronic ACER3 chr11 76614906 76614906 G C het . 2 +intronic ACER3 chr11 76705181 76705181 T - het . 10 +intronic ACER3 chr11 76723489 76723489 G A het . 2 +intronic CAPN5 chr11 76788558 76788558 - T het . 2 +intronic CAPN5 chr11 76788560 76788560 G T het . 2 +intronic CAPN5 chr11 76788574 76788574 T - het . 2 +intronic CAPN5 chr11 76823849 76823849 T G het . 12 +intronic CAPN5 chr11 76827360 76827360 A G het . 14 +intronic CAPN5 chr11 76833779 76833779 G T het . 3 +intronic GDPD4 chr11 76979889 76979889 T C het . 4 +UTR3 PAK1(NM_001128620:c.*50G>T,NM_002576:c.*25G>T) chr11 77034294 77034294 C A het . 29 +intronic PAK1 chr11 77171234 77171234 A T het . 2 +intronic CLNS1A chr11 77335982 77335982 C A het . 6 +downstream RSF1(dist=468) chr11 77376806 77376806 C A het . 3 +intronic RSF1 chr11 77452013 77452013 C A het . 16 +intronic RSF1 chr11 77524510 77524510 C A het . 15 +intronic AAMDC chr11 77534444 77534444 G A het . 2 +intronic INTS4 chr11 77629132 77629132 - T het . 14 +intronic INTS4 chr11 77672189 77672189 - A het . 5 +intronic INTS4 chr11 77674398 77674398 - A het . 4 +intronic INTS4 chr11 77674723 77674723 C A het . 5 +upstream INTS4(dist=59) chr11 77705776 77705776 T G het . 7 +upstream INTS4(dist=63) chr11 77705780 77705780 T G het . 7 +intergenic INTS4(dist=17929),NDUFC2-KCTD14(dist=3115) chr11 77723646 77723646 - AAAAAAG het . 1 +intronic NDUFC2-KCTD14 chr11 77764541 77764541 C T het . 3 +intronic NDUFC2,NDUFC2-KCTD14 chr11 77781173 77781173 T C het . 17 +intronic NDUFC2,NDUFC2-KCTD14 chr11 77781249 77781249 C T het . 12 +intronic ALG8 chr11 77813998 77813998 A - het . 3 +intronic ALG8 chr11 77824768 77824768 C A het . 2 +intronic ALG8 chr11 77824908 77824909 AA - het . 13 +exonic ALG8 chr11 77824934 77824934 A C het . 19 +exonic ALG8 chr11 77824939 77824939 A C het . 22 +exonic ALG8 chr11 77824947 77824947 A C het . 25 +intronic ALG8 chr11 77825777 77825777 C T het . 10 +intronic ALG8 chr11 77838374 77838374 A - het . 25 +intronic GAB2 chr11 77953169 77953170 AA - het . 3 +intronic NARS2 chr11 78206157 78206157 T C het . 1 +exonic TENM4 chr11 78468047 78468047 C T het . 5 +intronic TENM4 chr11 78863622 78863622 C T het . 1 +intronic TENM4 chr11 78872015 78872015 C A het . 1 +intronic TENM4 chr11 78872037 78872037 C G het . 2 +intergenic TENM4(dist=863973),LOC101928944(dist=446576) chr11 80015668 80015668 T C het . 3 +intergenic TENM4(dist=1064313),LOC101928944(dist=246236) chr11 80216008 80216008 C T het . 1 +intergenic TENM4(dist=1213072),LOC101928944(dist=97477) chr11 80364767 80364767 - ATT het . 26 +intergenic LOC101928944(dist=158819),MIR4300HG(dist=958228) chr11 80632665 80632665 A G het . 6 +intergenic LOC101928944(dist=210073),MIR4300HG(dist=906974) chr11 80683919 80683919 G T het . 2 +intergenic LOC101928944(dist=611325),MIR4300HG(dist=505722) chr11 81085171 81085171 C - het . 2 +intergenic LOC101928944(dist=747730),MIR4300HG(dist=369317) chr11 81221576 81221576 G A het . 2 +intergenic LOC101928944(dist=925559),MIR4300HG(dist=191488) chr11 81399405 81399405 C T het . 2 +intergenic LOC101928944(dist=994183),MIR4300HG(dist=122864) chr11 81468029 81468029 - AGAAAAAGAAAG het . 5 +ncRNA_intronic MIR4300HG chr11 81889506 81889506 A T het . 1 +intergenic MIR4300HG(dist=1130),FAM181B(dist=326961) chr11 82116085 82116085 C T het . 4 +intergenic MIR4300HG(dist=84506),FAM181B(dist=243585) chr11 82199461 82199461 C - het . 2 +intergenic MIR4300HG(dist=108035),FAM181B(dist=220056) chr11 82222990 82222990 G T het . 1 +intergenic MIR4300HG(dist=110396),FAM181B(dist=217695) chr11 82225351 82225351 T C het . 2 +intergenic MIR4300HG(dist=286032),FAM181B(dist=42059) chr11 82400987 82400987 C T het . 10 +exonic FAM181B chr11 82444097 82444097 G T het . 8 +intronic RAB30 chr11 82704967 82704968 CA AT het . 3 +exonic PCF11 chr11 82879907 82879908 GG AA het . 14 +intronic ANKRD42 chr11 82920476 82920476 C T het . 26 +intronic CCDC90B chr11 82984207 82984207 A - het . 3 +intronic DLG2 chr11 83195096 83195096 C A het . 14 +intronic DLG2 chr11 83251494 83251494 G A het . 1 +intronic DLG2 chr11 83385957 83385957 G A het . 2 +exonic DLG2 chr11 83585484 83585484 T A het . 19 +intronic DLG2 chr11 83629884 83629884 A - het . 3 +intronic DLG2 chr11 83819060 83819060 G C het . 1 +intronic DLG2 chr11 84544108 84544108 G - het . 2 +intronic DLG2 chr11 84544109 84544109 A T het . 2 +intronic DLG2 chr11 84802565 84802565 C T het . 1 +intronic DLG2 chr11 84981466 84981466 G C het . 1 +intronic TMEM126B chr11 85346866 85346869 TTTT - het . 8 +intronic SYTL2 chr11 85438093 85438093 C A het . 33 +intronic SYTL2 chr11 85440887 85440887 C A het . 3 +intronic CCDC83 chr11 85606308 85606308 T - het . 5 +intronic CCDC83 chr11 85622219 85622219 A - het . 8 +intronic CCDC83 chr11 85622240 85622240 G A het . 10 +intronic PICALM chr11 85670386 85670387 AA - het . 2 +intronic PICALM chr11 85714288 85714288 T C het . 6 +exonic PICALM chr11 85714412 85714412 C A het . 15 +intronic TMEM135 chr11 86754692 86754692 G A het . 3 +intronic TMEM135 chr11 86831146 86831149 TTTC - het . 2 +intronic TMEM135 chr11 86962071 86962071 C T het . 3 +intronic TMEM135 chr11 86970277 86970277 T C het . 4 +intronic TMEM135 chr11 86975298 86975301 TCTT - het . 3 +intronic TMEM135 chr11 86975321 86975321 A C het . 2 +intronic TMEM135 chr11 86979206 86979206 C T het . 4 +intronic TMEM135 chr11 86979211 86979211 C T het . 3 +intronic TMEM135 chr11 86996167 86996167 C T het . 2 +UTR3 TMEM135(NM_022918:c.*4168T>G,NM_001168724:c.*4168T>G) chr11 87036543 87036543 T G het . 32 +UTR3 TMEM135(NM_022918:c.*6021G>A,NM_001168724:c.*6021G>A) chr11 87038396 87038396 G A het . 25 +intergenic TMEM135(dist=169037),LOC105369423(dist=220333) chr11 87208913 87208913 C T het . 2 +exonic RAB38 chr11 87908429 87908429 T C het . 15 +exonic RAB38 chr11 87908448 87908448 A G het . 18 +intronic CTSC chr11 88059683 88059683 G A het . 11 +intronic CTSC chr11 88059694 88059694 - A het . 8 +intronic CTSC chr11 88059739 88059740 TA CT het . 16 +intergenic CTSC(dist=71076),GRM5(dist=95713) chr11 88142031 88142031 T C het . 3 +exonic GRM5 chr11 88242024 88242024 T G het . 14 +exonic GRM5 chr11 88300783 88300783 C A het . 33 +exonic TYR chr11 88911467 88911467 C A het . 35 +intronic NOX4 chr11 89088374 89088374 C T het . 11 +intronic NOX4 chr11 89133298 89133298 C A het . 9 +intronic NOX4 chr11 89239391 89239391 - AGAA het . 4 +intergenic UBTFL1(dist=35172),NAALAD2(dist=12347) chr11 89855471 89855471 - TTTG het . 2 +UTR5 NAALAD2(NM_005467:c.-55C>T,NM_001300930:c.-55C>T) chr11 89867872 89867872 C T het . 9 +exonic NAALAD2 chr11 89868824 89868824 C A het . 28 +intronic NAALAD2 chr11 89912952 89912952 - A het . 2 +intronic NAALAD2 chr11 89914886 89914886 - C het . 20 +intronic NAALAD2 chr11 89914895 89914900 AAAAAA - het . 19 +intronic NAALAD2 chr11 89914940 89914940 A C het . 21 +intronic NAALAD2 chr11 89915005 89915005 A G het . 12 +intergenic NAALAD2(dist=6426),CHORDC1(dist=1392) chr11 89932205 89932205 C A het . 2 +intronic CHORDC1 chr11 89946503 89946505 AAA - het . 5 +intronic CHORDC1 chr11 89951368 89951368 A - het . 6 +ncRNA_intronic DISC1FP1 chr11 90193294 90193294 G A het . 2 +ncRNA_intronic DISC1FP1 chr11 90430498 90430498 T A het . 2 +ncRNA_intronic DISC1FP1 chr11 90457672 90457675 TTCT - het . 2 +intergenic DISC1FP1(dist=11481),FAT3(dist=1425561) chr11 90659701 90659701 - G het . 3 +intergenic DISC1FP1(dist=25802),FAT3(dist=1411229) chr11 90674022 90674033 AAGGAAGGAGGA - het . 1 +intergenic DISC1FP1(dist=47839),FAT3(dist=1389203) chr11 90696059 90696059 G A het . 2 +intergenic DISC1FP1(dist=134284),FAT3(dist=1302758) chr11 90782504 90782504 G A het . 3 +intergenic DISC1FP1(dist=168870),FAT3(dist=1268172) chr11 90817090 90817090 A G het . 1 +intergenic DISC1FP1(dist=257373),FAT3(dist=1179669) chr11 90905593 90905593 C A het . 2 +intergenic DISC1FP1(dist=994832),FAT3(dist=442210) chr11 91643052 91643052 T C het . 1 +intergenic DISC1FP1(dist=1202544),FAT3(dist=234498) chr11 91850764 91850764 T C het . 2 +intergenic DISC1FP1(dist=1218479),FAT3(dist=218563) chr11 91866699 91866699 C A het . 2 +intergenic DISC1FP1(dist=1231540),FAT3(dist=205502) chr11 91879760 91879760 C G het . 3 +intergenic DISC1FP1(dist=1273320),FAT3(dist=163722) chr11 91921540 91921540 T C het . 2 +intergenic DISC1FP1(dist=1273354),FAT3(dist=163686) chr11 91921574 91921576 TTT - het . 2 +intergenic DISC1FP1(dist=1312699),FAT3(dist=124343) chr11 91960919 91960919 T - het . 2 +exonic FAT3 chr11 92087528 92087528 C A het . 38 +intronic FAT3 chr11 92161808 92161808 T G het . 2 +intronic FAT3 chr11 92368676 92368676 T C het . 3 +exonic FAT3 chr11 92533856 92533856 C A het . 26 +intronic FAT3 chr11 92577070 92577070 T C het . 3 +intronic FAT3 chr11 92599851 92599851 G A het . 2 +intergenic MTNR1B(dist=110311),SLC36A4(dist=51078) chr11 92826259 92826259 G T het . 2 +intronic DEUP1 chr11 93084121 93084121 C A het . 2 +intronic DEUP1 chr11 93085885 93085885 G A het . 3 +intronic DEUP1 chr11 93088319 93088319 C A het . 3 +intronic DEUP1 chr11 93122128 93122128 C T het . 14 +intergenic SMCO4(dist=42433),CEP295(dist=75837) chr11 93318979 93318979 G A het . 2 +intronic CEP295 chr11 93401133 93401133 C A het . 6 +intronic CEP295 chr11 93401167 93401167 C - het . 6 +intronic CEP295 chr11 93408958 93408958 - A het . 4 +intronic CEP295 chr11 93462102 93462102 G C het . 4 +intronic CEP295 chr11 93463146 93463146 T - het . 12 +UTR5 TAF1D(NM_024116:c.-2101_-2100insTCACGC) chr11 93474570 93474570 - GCGTGA het . 13 +intronic C11orf54 chr11 93480708 93480708 T C het . 11 +intronic C11orf54 chr11 93480717 93480717 - TATCTTACT het . 10 +intronic C11orf54 chr11 93482002 93482003 AA - het . 2 +intronic C11orf54 chr11 93490682 93490682 T A het . 7 +intronic C11orf54 chr11 93490700 93490700 T - het . 3 +intergenic C11orf54(dist=12098),MED17(dist=9039) chr11 93508366 93508366 T C het . 2 +exonic MED17 chr11 93517874 93517874 C G het . 17 +exonic MED17 chr11 93517886 93517886 G C het . 18 +intronic MED17 chr11 93521405 93521405 C T het . 18 +intergenic VSTM5(dist=78404),HEPHL1(dist=92306) chr11 93662072 93662072 C T het . 3 +intronic HEPHL1 chr11 93808607 93808607 - AC het . 2 +intronic HEPHL1 chr11 93834223 93834223 G A het . 4 +intergenic PANX1(dist=25296),IZUMO1R(dist=98370) chr11 93940433 93940433 A - het . 1 +intergenic PANX1(dist=25297),IZUMO1R(dist=98369) chr11 93940434 93940434 A T het . 1 +intergenic PANX1(dist=88835),IZUMO1R(dist=34831) chr11 94003972 94003972 A G het . 3 +intergenic PANX1(dist=103315),IZUMO1R(dist=20351) chr11 94018452 94018452 T C het . 2 +intronic IZUMO1R chr11 94039646 94039646 G C het . 15 +UTR5 GPR83(NM_001330345:c.-59T>G,NM_016540:c.-59T>G) chr11 94134472 94134472 A C het . 3 +intronic MRE11 chr11 94212931 94212931 A - het . 38 +intronic ANKRD49 chr11 94230120 94230120 A - het . 31 +ncRNA_intronic LOC105369438 chr11 94302532 94302532 T - het . 7 +ncRNA_intronic LOC105369438 chr11 94302540 94302540 T G het . 7 +ncRNA_intronic LOC105369438 chr11 94349640 94349640 T - het . 22 +ncRNA_intronic LOC105369438 chr11 94432100 94432100 C A het . 2 +upstream LOC105369438(dist=524) chr11 94474045 94474045 T - het . 11 +intergenic LOC105369438(dist=20903),AMOTL1(dist=7084) chr11 94494424 94494424 G A het . 2 +exonic AMOTL1 chr11 94533444 94533444 G A het . 4 +intronic AMOTL1 chr11 94550414 94550414 G T het . 2 +intergenic AMOTL1(dist=48803),CWC15(dist=37066) chr11 94658721 94658721 G A het . 1 +intergenic AMOTL1(dist=84202),CWC15(dist=1667) chr11 94694120 94694120 A T het . 2 +exonic KDM4D chr11 94731822 94731822 C G het . 8 +exonic SRSF8 chr11 94800902 94800902 - C het . 19 +exonic ENDOD1 chr11 94862178 94862178 C A het . 26 +intergenic LOC100129203(dist=330009),FAM76B(dist=204529) chr11 95297577 95297577 G A het . 1 +intergenic LOC100129203(dist=454054),FAM76B(dist=80484) chr11 95421622 95421622 A - het . 2 +intergenic LOC100129203(dist=467920),FAM76B(dist=66618) chr11 95435488 95435488 C A het . 3 +intergenic LOC100129203(dist=511183),FAM76B(dist=23355) chr11 95478751 95478751 T - het . 3 +intergenic LOC100129203(dist=513728),FAM76B(dist=20810) chr11 95481296 95481296 G A het . 2 +intergenic LOC100129203(dist=513752),FAM76B(dist=20786) chr11 95481320 95481320 G T het . 2 +intronic FAM76B chr11 95509037 95509037 C G het . 5 +intronic CEP57 chr11 95532166 95532166 A G het . 5 +intronic CEP57 chr11 95560853 95560853 A G het . 9 +intronic CEP57 chr11 95562535 95562535 - A het . 36 +intronic CEP57 chr11 95562771 95562771 T C het . 2 +intronic CEP57 chr11 95562790 95562790 T C het . 3 +intronic CEP57 chr11 95564074 95564074 - TGAG het . 23 +UTR3 CEP57(NM_001243777:c.*101_*102delAA,NM_001243776:c.*101_*102delAA,NM_001363604:c.*101_*102delAA,NM_014679:c.*101_*102delAA) chr11 95564521 95564522 AA - het . 12 +intronic MAML2 chr11 95770378 95770378 T C het . 2 +exonic MAML2 chr11 95825375 95825383 TGCTGCTGC - het . 20 +intronic MAML2 chr11 95853099 95853099 T C het . 2 +intronic MAML2 chr11 96010928 96010928 T A het . 2 +intergenic JRKL(dist=47291),JRKL-AS1(dist=2428) chr11 96174018 96174018 A - het . 3 +intergenic LOC105369443(dist=429843),NONE(dist=NONE) chr11 96677757 96677757 A T het . 1 +intergenic LOC105369443(dist=690497),CNTN5(dist=1953295) chr11 96938411 96938411 A - het . 2 +intergenic LOC105369443(dist=690506),CNTN5(dist=1953286) chr11 96938420 96938420 A T het . 2 +intergenic LOC105369443(dist=787861),CNTN5(dist=1855931) chr11 97035775 97035775 G A het . 2 +intergenic LOC105369443(dist=1005281),CNTN5(dist=1638511) chr11 97253195 97253195 C A het . 2 +intergenic LOC105369443(dist=1169539),CNTN5(dist=1474253) chr11 97417453 97417453 A G het . 3 +intergenic LOC105369443(dist=1372464),CNTN5(dist=1271328) chr11 97620378 97620378 C T het . 1 +intergenic LOC105369443(dist=1617594),CNTN5(dist=1026198) chr11 97865508 97865508 C T het . 1 +intergenic LOC105369443(dist=1620426),CNTN5(dist=1023366) chr11 97868340 97868340 A T het . 2 +intergenic LOC105369443(dist=1689641),CNTN5(dist=954150) chr11 97937555 97937556 AG CA het . 2 +intergenic LOC105369443(dist=1765288),CNTN5(dist=878504) chr11 98013202 98013202 A T het . 2 +intergenic LOC105369443(dist=2049841),CNTN5(dist=593951) chr11 98297755 98297755 G A het . 2 +intergenic NONE(dist=NONE),CNTN5(dist=455105) chr11 98436601 98436601 C T het . 14 +intergenic NONE(dist=NONE),CNTN5(dist=391519) chr11 98500187 98500187 A G het . 3 +intergenic NONE(dist=NONE),CNTN5(dist=386610) chr11 98505096 98505096 G - het . 2 +intergenic NONE(dist=NONE),CNTN5(dist=218160) chr11 98673546 98673546 G A het . 1 +intronic CNTN5 chr11 99303238 99303241 TCTC - het . 5 +intronic CNTN5 chr11 99502461 99502461 A C het . 1 +intronic CNTN5 chr11 99608693 99608693 G A het . 1 +intronic CNTN5 chr11 99608709 99608709 T C het . 2 +intronic CNTN5 chr11 99642803 99642803 T - het . 2 +intronic CNTN5 chr11 99728777 99728777 C A het . 2 +intronic CNTN5 chr11 99827501 99827501 C T het . 15 +intronic CNTN5 chr11 100061827 100061827 - A het . 9 +intronic CNTN5 chr11 100168289 100168289 C T het . 15 +intronic CNTN5 chr11 100168320 100168320 - C het . 21 +intronic CNTN5 chr11 100169708 100169708 T G het . 2 +intronic CNTN5 chr11 100169829 100169829 A G het . 11 +intronic ARHGAP42 chr11 100665687 100665687 T A het . 2 +intronic ARHGAP42 chr11 100732652 100732652 G T het . 2 +intronic ARHGAP42 chr11 100814885 100814885 T C het . 1 +intronic ARHGAP42 chr11 100819099 100819099 T - het . 10 +intronic ARHGAP42 chr11 100820888 100820888 T - het . 7 +intronic ARHGAP42 chr11 100847343 100847343 T A het . 1 +intronic PGR chr11 100922385 100922385 A G het . 17 +intronic PGR chr11 100922404 100922404 A T het . 18 +intronic PGR chr11 100998105 100998105 C T het . 5 +intergenic PGR-AS1(dist=96077),TRPC6(dist=196215) chr11 101126078 101126080 TTG - het . 2 +intronic TRPC6 chr11 101375615 101375615 C G het . 6 +intergenic TRPC6(dist=10678),ANGPTL5(dist=296068) chr11 101465337 101465337 C T het . 11 +intergenic TRPC6(dist=38462),ANGPTL5(dist=268284) chr11 101493121 101493121 G A het . 2 +intergenic TRPC6(dist=61816),ANGPTL5(dist=244930) chr11 101516475 101516475 C G het . 1 +intergenic TRPC6(dist=65072),ANGPTL5(dist=241674) chr11 101519731 101519731 T C het . 2 +intergenic TRPC6(dist=65389),ANGPTL5(dist=241357) chr11 101520048 101520048 C G het . 2 +intergenic TRPC6(dist=183192),ANGPTL5(dist=123554) chr11 101637851 101637851 G T het . 17 +intergenic TRPC6(dist=305375),ANGPTL5(dist=1371) chr11 101760034 101760034 A G het . 3 +intergenic TRPC6(dist=305422),ANGPTL5(dist=1324) chr11 101760081 101760081 - GAG het . 3 +intronic CEP126 chr11 101793290 101793290 C A het . 8 +intronic YAP1 chr11 101995006 101995006 G T het . 2 +intronic YAP1 chr11 102012884 102012884 A C het . 2 +intronic YAP1 chr11 102056589 102056589 A G het . 3 +UTR3 TMEM123(NM_052932:c.*1071A>T) chr11 102268527 102268527 T A het . 2 +intronic TMEM123 chr11 102286649 102286651 ATC - het . 2 +ncRNA_intronic LOC102723838 chr11 102359665 102359665 C T het . 1 +intronic MMP20 chr11 102449468 102449481 AAAAAACAAAAAAC - het . 3 +intronic MMP20 chr11 102449531 102449531 - AAAC het . 5 +intronic MMP8 chr11 102584466 102584466 - T het . 8 +intronic MMP8 chr11 102592590 102592590 G C het . 2 +exonic MMP8 chr11 102593366 102593366 C A het . 16 +intronic MMP3 chr11 102709984 102709984 A G het . 19 +exonic MMP12 chr11 102733838 102733838 C A het . 21 +exonic MMP12 chr11 102738793 102738793 - T het . 14 +exonic MMP12 chr11 102738795 102738795 G T het . 14 +intronic MMP13 chr11 102825016 102825016 C A het . 33 +intronic DYNC2H1 chr11 103013954 103013954 G T het . 12 +intronic DYNC2H1 chr11 103018451 103018451 C A het . 13 +intronic DYNC2H1 chr11 103022842 103022842 - T het . 30 +intronic DYNC2H1 chr11 103041542 103041542 A G het . 4 +intronic DYNC2H1 chr11 103050219 103050219 G C het . 2 +intronic DYNC2H1 chr11 103060671 103060671 A C het . 4 +intronic DYNC2H1 chr11 103074349 103074349 C T het . 4 +exonic DYNC2H1 chr11 103090692 103090692 G A het . 14 +intronic DYNC2H1 chr11 103104608 103104608 G T het . 3 +intronic DYNC2H1 chr11 103123999 103123999 G T het . 14 +intronic DYNC2H1 chr11 103159541 103159541 C T het . 3 +intronic DYNC2H1 chr11 103219365 103219365 T C het . 2 +intronic DYNC2H1 chr11 103302525 103302525 G T het . 18 +intergenic DYNC2H1(dist=78376),MIR4693(dist=291667) chr11 103428967 103428967 T C het . 2 +intergenic DYNC2H1(dist=101637),MIR4693(dist=268406) chr11 103452228 103452228 T C het . 2 +intergenic DYNC2H1(dist=240031),MIR4693(dist=130012) chr11 103590622 103590622 C A het . 1 +downstream PDGFD(dist=303) chr11 103777611 103777611 C T het . 2 +intronic PDGFD chr11 103787823 103787823 C A het . 2 +intergenic PDGFD(dist=201664),LINC02552(dist=202526) chr11 104236691 104236691 C A het . 1 +intergenic PDGFD(dist=201685),LINC02552(dist=202505) chr11 104236712 104236712 A C het . 2 +intergenic LINC02552(dist=73417),CASP12(dist=202998) chr11 104553447 104553447 - T het . 4 +intergenic LINC02552(dist=128210),CASP12(dist=148205) chr11 104608240 104608240 T C het . 2 +intergenic LINC02552(dist=212806),CASP12(dist=63609) chr11 104692836 104692836 G A het . 5 +intronic CASP12 chr11 104767349 104767349 T G het . 2 +ncRNA_intronic CASP17P chr11 104774335 104774335 A G het . 3 +intergenic CASP17P(dist=18214),CASP4(dist=6478) chr11 104807116 104807116 A G het . 2 +intronic CASP4 chr11 104817679 104817679 A G het . 7 +exonic CASP5 chr11 104877927 104877927 T C het . 33 +exonic CASP5 chr11 104879687 104879687 T - het . 25 +UTR3 CASP1(NM_001257119:c.*610C>A,NM_001257118:c.*610C>A) chr11 104896375 104896375 G T het . 21 +intronic CASP1 chr11 104897125 104897125 - T het . 5 +intronic CASP1 chr11 104897437 104897437 A G het . 2 +ncRNA_intronic CASP1P2 chr11 104937235 104937236 AC CA het . 2 +intergenic CARD17(dist=22146),CARD18(dist=14144) chr11 104994304 104994304 G T het . 4 +intergenic CARD18(dist=351109),GRIA4(dist=119230) chr11 105361570 105361570 G T het . 2 +intergenic CARD18(dist=468300),GRIA4(dist=2039) chr11 105478761 105478761 T C het . 2 +intronic GRIA4 chr11 105584017 105584017 G A het . 2 +exonic GRIA4 chr11 105804660 105804660 C A het . 18 +intronic GRIA4 chr11 105835528 105835528 T G het . 5 +ncRNA_exonic LOC101928535 chr11 106135551 106135551 G A het . 2 +intergenic LOC101928535(dist=101280),GUCY1A2(dist=307826) chr11 106236912 106236912 G A het . 2 +intergenic LOC101928535(dist=272400),GUCY1A2(dist=136701) chr11 106408032 106408037 CAAATG - het . 15 +intergenic LOC101928535(dist=272439),GUCY1A2(dist=136667) chr11 106408071 106408071 C T het . 22 +intergenic LOC101928535(dist=280802),GUCY1A2(dist=128304) chr11 106416434 106416434 G A het . 2 +UTR3 GUCY1A2(NM_001256424:c.*7589delA,NM_000855:c.*7589delA) chr11 106550686 106550686 T - het . 3 +intronic GUCY1A2 chr11 106733119 106733119 C T het . 2 +intronic GUCY1A2 chr11 106806588 106806588 T C het . 2 +intronic GUCY1A2 chr11 106815038 106815038 G - het . 2 +intergenic GUCY1A2(dist=119877),CWF19L2(dist=188024) chr11 107009048 107009048 G A het . 1 +intronic CWF19L2 chr11 107207566 107207566 T C het . 11 +intronic CWF19L2 chr11 107207602 107207602 T C het . 5 +intronic CWF19L2 chr11 107274331 107274331 T C het . 15 +intergenic CWF19L2(dist=41638),ALKBH8(dist=3243) chr11 107370210 107370210 C T het . 3 +intronic ALKBH8 chr11 107381533 107381533 G A het . 4 +intronic ALKBH8 chr11 107427019 107427019 T A het . 1 +intronic ALKBH8 chr11 107431637 107431637 C A het . 18 +intergenic SLN(dist=64107),SLC35F2(dist=14823) chr11 107646894 107646894 - A het . 10 +intergenic SLN(dist=64131),SLC35F2(dist=14799) chr11 107646918 107646918 G A het . 11 +intergenic SLC35F2(dist=61068),RAB39A(dist=8219) chr11 107790982 107790982 T G het . 4 +intergenic RAB39A(dist=31348),CUL5(dist=13903) chr11 107865556 107865556 T C het . 1 +intronic CUL5 chr11 107887312 107887312 G T het . 2 +intronic CUL5 chr11 107887329 107887329 G T het . 2 +intronic CUL5 chr11 107903327 107903327 C T het . 2 +intronic ACAT1 chr11 108004928 108004928 T - het . 19 +intronic ACAT1 chr11 108016772 108016772 A - het . 16 +intronic NPAT chr11 108044639 108044639 T - het . 14 +exonic NPAT chr11 108060001 108060001 T C het . 22 +intronic NPAT chr11 108064935 108064935 A G het . 4 +intronic ATM chr11 108100105 108100105 - T het . 12 +intronic ATM chr11 108141956 108141959 TTTT - het . 22 +intronic ATM chr11 108175161 108175161 A G het . 5 +intronic ATM,C11orf65 chr11 108204881 108204881 C T het . 10 +intronic C11orf65 chr11 108256409 108256409 A - het . 3 +intronic DDX10 chr11 108549186 108549186 - A het . 6 +exonic DDX10 chr11 108593786 108593786 C A het . 26 +intronic DDX10 chr11 108615963 108615963 T C het . 2 +intronic DDX10 chr11 108632364 108632364 G A het . 2 +intronic DDX10 chr11 108786183 108786183 T G het . 2 +intronic DDX10 chr11 108786186 108786186 T C het . 2 +intergenic DDX10(dist=355253),C11orf87(dist=125936) chr11 109166910 109166910 A G het . 6 +intergenic DDX10(dist=424570),C11orf87(dist=56619) chr11 109236227 109236227 - T het . 2 +intergenic DDX10(dist=453796),C11orf87(dist=27393) chr11 109265453 109265453 A - het . 3 +intergenic C11orf87(dist=44156),ZC3H12C(dist=620038) chr11 109344049 109344049 C T het . 3 +intergenic C11orf87(dist=502098),ZC3H12C(dist=162096) chr11 109801991 109801991 C T het . 2 +intergenic C11orf87(dist=554463),ZC3H12C(dist=109731) chr11 109854356 109854356 - TGTT het . 6 +intronic RDX chr11 110046811 110046811 T C het . 3 +UTR3 RDX(NM_001260496:c.*388C>T,NM_001260495:c.*388C>T,NM_001260492:c.*388C>T) chr11 110066534 110066534 G A het . 1 +intronic RDX chr11 110076435 110076435 A C het . 2 +intronic RDX chr11 110076450 110076450 C T het . 1 +intronic RDX chr11 110102860 110102860 C A het . 30 +intronic RDX chr11 110104422 110104422 - GTC het . 7 +intronic RDX chr11 110109702 110109702 G A het . 1 +intergenic RDX(dist=16004),LOC105369486(dist=42398) chr11 110183441 110183441 G A het . 1 +intronic ARHGAP20 chr11 110452999 110452999 C A het . 20 +intronic ARHGAP20 chr11 110453009 110453009 G A het . 18 +intronic ARHGAP20 chr11 110532348 110532348 C T het . 2 +intergenic ARHGAP20(dist=75077),LINC02550(dist=303667) chr11 110658989 110658989 G A het . 38 +intergenic ARHGAP20(dist=75106),LINC02550(dist=303638) chr11 110659018 110659018 A G het . 33 +intergenic ARHGAP20(dist=85522),LINC02550(dist=293222) chr11 110669434 110669434 T C het . 1 +intergenic ARHGAP20(dist=110885),LINC02550(dist=267859) chr11 110694797 110694797 T C het . 2 +intronic POU2AF1 chr11 111229470 111229470 T C het . 3 +intergenic LOC100132078(dist=7594),BTG4(dist=41751) chr11 111296505 111296505 G T het . 2 +intergenic LAYN(dist=12989),SIK2(dist=27656) chr11 111445459 111445459 T - het . 3 +intronic SIK2 chr11 111499140 111499140 - TCTT het . 5 +exonic PPP2R1B chr11 111622883 111622883 C A het . 11 +ncRNA_intronic HSPB2-C11orf52 chr11 111790208 111790208 - A het . 3 +exonic C11orf52 chr11 111795085 111795085 C G het . 17 +ncRNA_intronic HSPB2-C11orf52 chr11 111795148 111795148 C G het . 7 +intronic DIXDC1 chr11 111845000 111845000 T G het . 3 +intronic DIXDC1 chr11 111860349 111860349 G A het . 2 +exonic DIXDC1 chr11 111863234 111863234 C A het . 18 +intronic DLAT chr11 111897050 111897050 A T het . 6 +intronic DLAT chr11 111915765 111915765 - A het . 8 +exonic SDHD chr11 111963860 111963860 A G het . 6 +intergenic SDHD(dist=44454),IL18(dist=2995) chr11 112010979 112010979 - TCTT het . 1 +intergenic SDHD(dist=46105),IL18(dist=1344) chr11 112012630 112012630 A G het . 1 +intronic BCO2 chr11 112053564 112053564 - TAAAA het . 11 +intronic BCO2 chr11 112060093 112060093 A - het . 2 +intronic BCO2 chr11 112060122 112060122 A G het . 2 +intronic BCO2 chr11 112060127 112060127 A G het . 2 +intronic BCO2 chr11 112071570 112071571 AA TT het . 5 +intergenic LOC100132686(dist=1204),LOC283140(dist=8149) chr11 112133323 112133323 T A het . 2 +ncRNA_intronic LOC283140 chr11 112143442 112143442 T G het . 2 +intergenic LOC283140(dist=19927),LOC101928823(dist=99771) chr11 112253184 112253184 C T het . 1 +intergenic LOC283140(dist=107603),LOC101928823(dist=12095) chr11 112340860 112340860 T A het . 2 +intergenic LOC387810(dist=74834),LOC101928847(dist=328644) chr11 112501359 112501359 - C het . 2 +intergenic LOC387810(dist=154197),LOC101928847(dist=249281) chr11 112580722 112580722 C T het . 2 +intergenic LOC387810(dist=215828),LOC101928847(dist=187650) chr11 112642353 112642353 A - het . 2 +exonic NCAM1 chr11 112832353 112832353 T C het . 18 +exonic NCAM1 chr11 112832358 112832358 T C het . 19 +ncRNA_intronic LOC101928847 chr11 112832392 112832392 T - het . 15 +intronic NCAM1 chr11 112910077 112910077 C A het . 2 +exonic TTC12 chr11 113194168 113194168 A C het . 6 +intronic TTC12 chr11 113232703 113232703 C T het . 3 +intronic TTC12 chr11 113234679 113234679 T C het . 3 +intronic TTC12 chr11 113235419 113235419 A G het . 5 +exonic DRD2 chr11 113283477 113283477 A G het . 11 +intronic DRD2 chr11 113336172 113336172 G A het . 7 +intergenic DRD2(dist=32951),TMPRSS5(dist=179316) chr11 113378952 113378952 C A het . 2 +intergenic DRD2(dist=80588),TMPRSS5(dist=131679) chr11 113426589 113426589 T C het . 1 +intronic TMPRSS5 chr11 113570208 113570208 C T het . 2 +intronic ZW10 chr11 113631432 113631432 A - het . 3 +intronic ZW10 chr11 113637436 113637436 - A het . 2 +intergenic CLDN25(dist=5614),USP28(dist=11776) chr11 113656821 113656821 G T het . 2 +UTR5 HTR3A(NM_000869:c.-42T>C,NM_213621:c.-42T>C) chr11 113846006 113846006 T C het . 20 +intronic ZBTB16 chr11 114070160 114070160 A G het . 2 +intronic ZBTB16 chr11 114108540 114108540 A C het . 2 +intronic ZBTB16 chr11 114120971 114120971 A C het . 4 +intronic ZBTB16 chr11 114120999 114120999 C T het . 13 +UTR3 ZBTB16(NM_006006:c.*4865_*4868delTCTT,NM_001354750:c.*4865_*4868delTCTT,NM_001354751:c.*4865_*4868delTCTT,NM_001018011:c.*4865_*4868delTCTT,NM_001354752:c.*4865_*4868delTCTT) chr11 114126142 114126145 TCTT - het . 2 +intronic NXPE1 chr11 114419876 114419876 A C het . 1 +intronic NXPE1 chr11 114421698 114421698 A G het . 1 +intronic NXPE1 chr11 114421705 114421705 A G het . 1 +intronic NXPE1 chr11 114421711 114421711 C T het . 1 +intronic NXPE1 chr11 114421714 114421714 T - het . 1 +intronic NXPE1 chr11 114421721 114421721 G A het . 1 +intronic NXPE1 chr11 114421789 114421789 - C het . 17 +intronic NXPE1 chr11 114421799 114421799 C T het . 19 +intronic NXPE1 chr11 114421817 114421817 G T het . 21 +intronic NXPE1 chr11 114421895 114421895 G A het . 36 +intronic NXPE1 chr11 114421909 114421909 T C het . 37 +intronic NXPE1 chr11 114421912 114421912 A G het . 36 +intronic NXPE1 chr11 114421927 114421927 G A het . 28 +intergenic NXPE4(dist=78364),NXPE2(dist=4352) chr11 114544848 114544848 - A het . 10 +intergenic NXPE2(dist=262941),CADM1(dist=203752) chr11 114840593 114840593 T C het . 2 +intergenic NXPE2(dist=357125),CADM1(dist=109568) chr11 114934777 114934777 G A het . 1 +intergenic NXPE2(dist=462746),CADM1(dist=3947) chr11 115040398 115040398 C A het . 10 +intronic CADM1 chr11 115060282 115060282 - AGA het . 2 +intronic CADM1 chr11 115061928 115061928 G A het . 1 +intronic CADM1 chr11 115250944 115250944 - A het . 2 +intronic CADM1 chr11 115250947 115250947 - A het . 2 +intergenic CADM1(dist=128069),LOC101928985(dist=99353) chr11 115503310 115503310 T A het . 2 +intergenic LINC00900(dist=200848),LOC101929011(dist=678373) chr11 115831766 115831766 - A het . 2 +intergenic LINC00900(dist=389808),LOC101929011(dist=489413) chr11 116020726 116020726 A C het . 2 +intergenic LINC00900(dist=555685),LOC101929011(dist=323536) chr11 116186603 116186603 C T het . 2 +intergenic LINC00900(dist=638103),LOC101929011(dist=241118) chr11 116269021 116269021 T C het . 2 +intergenic LINC00900(dist=688253),LOC101929011(dist=190968) chr11 116319171 116319171 T C het . 1 +intergenic LINC00900(dist=823424),LOC101929011(dist=55797) chr11 116454342 116454342 A C het . 2 +intergenic LOC101929011(dist=37577),BUD13(dist=52340) chr11 116566546 116566546 T C het . 3 +intronic BUD13 chr11 116631437 116631437 C A het . 14 +exonic BUD13 chr11 116631542 116631542 G C het . 19 +intronic ZPR1 chr11 116653296 116653296 C T het . 2 +intronic APOC3 chr11 116701674 116701674 T A het . 4 +intronic SIK3 chr11 116893551 116893551 A - het . 2 +intronic PAFAH1B2 chr11 117024095 117024095 - G het . 3 +intronic PAFAH1B2 chr11 117034389 117034395 AAAAAAA - het . 7 +intronic PAFAH1B2 chr11 117034619 117034619 G T het . 5 +intronic PAFAH1B2 chr11 117042238 117042238 C T het . 1 +intronic SIDT2 chr11 117052070 117052074 TCTCT - het . 6 +intronic SIDT2 chr11 117060523 117060523 G T het . 2 +intronic RNF214 chr11 117154091 117154091 G T het . 7 +intronic CEP164 chr11 117207131 117207131 G T het . 10 +exonic CEP164 chr11 117222648 117222648 A - het . 19 +intergenic CEP164(dist=7853),DSCAML1(dist=6653) chr11 117291835 117291835 C A het . 1 +UTR3 DSCAML1(NM_020693:c.*29A>G) chr11 117299015 117299015 T C het . 3 +UTR3 DSCAML1(NM_020693:c.*5C>G) chr11 117299039 117299039 G C het . 3 +intronic DSCAML1 chr11 117580254 117580254 T C het . 3 +intronic DSCAML1 chr11 117580509 117580509 A G het . 4 +intronic DSCAML1 chr11 117594331 117594331 C T het . 1 +intronic TMPRSS13 chr11 117784434 117784434 C G het . 5 +exonic TMPRSS13 chr11 117789313 117789327 GGGCTGGAGATGCCT - het . 12 +intronic TMPRSS13 chr11 117794929 117794929 A G het . 3 +intergenic TMPRSS13(dist=22927),IL10RA(dist=34011) chr11 117823095 117823095 T A het . 1 +intronic IL10RA chr11 117869288 117869288 C A het . 4 +intronic SMIM35 chr11 117899241 117899241 C A het . 5 +intronic SMIM35 chr11 117908328 117908328 A G het . 6 +intronic SMIM35,TMPRSS4 chr11 117948767 117948767 - GAAAA het . 2 +intergenic TMPRSS4(dist=5608),SCN4B(dist=7928) chr11 117996164 117996164 C T het . 4 +UTR3 SCN4B(NM_001142349:c.*148G>T,NM_001142348:c.*148G>T,NM_174934:c.*148G>T) chr11 118007594 118007594 C A het . 29 +intronic CD3D chr11 118211062 118211062 C T het . 19 +exonic CD3G chr11 118220583 118220583 A - het . 27 +intronic KMT2A chr11 118355413 118355413 T G het . 11 +intronic KMT2A chr11 118357614 118357614 T A het . 2 +intronic PHLDB1 chr11 118500745 118500749 TTTTT - het . 10 +exonic TREH chr11 118529017 118529017 T G het . 10 +exonic TREH chr11 118529044 118529044 - G het . 14 +intronic TREH chr11 118532562 118532562 C A het . 6 +intergenic TREH(dist=24485),DDX6(dist=43607) chr11 118574866 118574866 G T het . 3 +UTR3 DDX6(NM_004397:c.*70C>T,NM_001257191:c.*70C>T) chr11 118622744 118622744 G A het . 3 +exonic DDX6 chr11 118650388 118650388 G A het . 24 +intergenic DDX6(dist=59522),CXCR5(dist=32981) chr11 118721494 118721494 - T het . 3 +intergenic DDX6(dist=82667),CXCR5(dist=9833) chr11 118744639 118744642 AGAA - het . 2 +intronic CXCR5 chr11 118757056 118757056 - A het . 9 +exonic BCL9L chr11 118769442 118769442 A G het . 6 +intergenic FOXR1(dist=11871),CCDC84(dist=4977) chr11 118863866 118863866 A T het . 2 +upstream CCDC84(dist=1) chr11 118868842 118868842 - G het . 9 +intronic CCDC84 chr11 118886241 118886241 C A het . 25 +intronic HYOU1 chr11 118920453 118920453 T C het . 6 +intronic PDZD3 chr11 119058254 119058254 T - het . 7 +intronic CCDC153 chr11 119062525 119062525 C A het . 2 +intergenic CCDC153(dist=2539),CBL(dist=7863) chr11 119069123 119069123 G T het . 2 +intronic CBL chr11 119086997 119086997 G T het . 2 +intronic CBL chr11 119123615 119123615 A - het . 3 +intronic CBL chr11 119145464 119145465 TT - het . 8 +exonic CBL chr11 119168130 119168130 G C het . 39 +exonic CBL chr11 119170414 119170414 C A het . 28 +intronic MCAM chr11 119185347 119185347 G A het . 7 +UTR3 C1QTNF5(NM_015645:c.*62A>T,NM_001278431:c.*62A>T),MFRP(NM_031433:c.*1690A>T) chr11 119209979 119209979 T A het . 2 +exonic C1QTNF5 chr11 119210201 119210201 A C het . 13 +exonic C1QTNF5 chr11 119210205 119210205 A C het . 14 +intronic C1QTNF5,MFRP chr11 119210762 119210762 C G het . 3 +intronic C1QTNF5,MFRP chr11 119213782 119213782 A T het . 5 +intronic C1QTNF5,MFRP chr11 119214771 119214771 A G het . 3 +intronic C1QTNF5,MFRP chr11 119215253 119215253 G C het . 8 +intronic C1QTNF5,MFRP chr11 119215256 119215256 C T het . 7 +exonic MFRP chr11 119215687 119215687 C A het . 14 +intergenic C1QTNF5(dist=3563),USP2(dist=4979) chr11 119220946 119220946 T C het . 1 +intronic USP2 chr11 119229034 119229034 T - het . 11 +intronic NECTIN1 chr11 119509685 119509685 G - het . 2 +intronic NECTIN1 chr11 119584347 119584347 T C het . 2 +intergenic LOC102724301(dist=165478),TRIM29(dist=206172) chr11 119775811 119775811 A C het . 1 +intergenic LOC102724301(dist=338405),TRIM29(dist=33245) chr11 119948738 119948738 T G het . 1 +intronic TRIM29 chr11 119993898 119993899 CT - het . 20 +exonic TRIM29 chr11 119996559 119996559 T G het . 2 +upstream TRIM29(dist=282) chr11 120009145 120009145 A G het . 1 +intronic OAF chr11 120096573 120096573 C T het . 3 +intronic OAF chr11 120097498 120097498 T C het . 2 +intronic ARHGEF12 chr11 120270621 120270623 TAT - het . 2 +intronic ARHGEF12 chr11 120278688 120278688 T C het . 3 +intronic ARHGEF12 chr11 120347791 120347799 TTGTTGTTG - het . 11 +intronic ARHGEF12 chr11 120347886 120347886 - TGTTG het . 26 +intronic TBCEL chr11 120916272 120916272 T C het . 3 +exonic TECTA chr11 120976652 120976652 C A het . 29 +intergenic TECTA(dist=19431),SC5D(dist=82442) chr11 121080946 121080946 A - het . 2 +intergenic TECTA(dist=48797),SC5D(dist=53076) chr11 121110312 121110312 T G het . 1 +intergenic TECTA(dist=83158),SC5D(dist=18715) chr11 121144673 121144673 C T het . 1 +intronic SORL1 chr11 121348742 121348746 AAAAA - het . 4 +exonic SORL1 chr11 121421329 121421329 G A het . 15 +exonic SORL1 chr11 121430258 121430258 C G het . 15 +exonic SORL1 chr11 121437819 121437819 C G het . 4 +intronic SORL1 chr11 121489416 121489416 G A het . 6 +intergenic SORL1(dist=307256),MIR100HG(dist=87310) chr11 121811727 121811727 - AAAG het . 2 +intergenic SORL1(dist=328774),MIR100HG(dist=65792) chr11 121833245 121833245 C A het . 1 +ncRNA_intronic MIR100HG chr11 121973583 121973583 - A het . 2 +ncRNA_intronic MIR100HG chr11 122149237 122149238 TT - het . 2 +ncRNA_intronic MIR100HG chr11 122165766 122165766 G A het . 2 +intergenic MIR100HG(dist=191606),UBASH3B(dist=41213) chr11 122485185 122485185 C A het . 24 +exonic UBASH3B chr11 122526821 122526821 G C het . 13 +intronic UBASH3B chr11 122537139 122537139 C T het . 2 +intronic CRTAM chr11 122738063 122738064 AA - het . 5 +intronic CRTAM chr11 122738081 122738081 C A het . 4 +intronic CRTAM chr11 122738896 122738896 A G het . 5 +intronic JHY chr11 122809205 122809205 G A het . 3 +intronic JHY chr11 122828265 122828266 TT - het . 3 +intergenic JHY(dist=1186),BSX(dist=16741) chr11 122831616 122831616 A G het . 12 +intergenic JHY(dist=1192),BSX(dist=16735) chr11 122831622 122831622 G C het . 12 +downstream LOC341056(dist=311) chr11 122890630 122890630 A T het . 2 +downstream LOC341056(dist=313) chr11 122890632 122890632 A C het . 2 +downstream LOC341056(dist=320) chr11 122890639 122890639 A C het . 2 +intergenic LOC341056(dist=16463),HSPA8(dist=21418) chr11 122906782 122906782 C T het . 9 +intronic HSPA8 chr11 122928935 122928937 AAA - het . 2 +intronic CLMP chr11 123053078 123053078 T C het . 2 +intergenic CLMP(dist=20820),MIR4493(dist=165315) chr11 123086833 123086833 T C het . 2 +intergenic CLMP(dist=20830),MIR4493(dist=165298) chr11 123086843 123086850 TTTTTTTT - het . 2 +intergenic CLMP(dist=95724),MIR4493(dist=90411) chr11 123161737 123161737 G A het . 1 +intergenic LOC100128242(dist=63813),GRAMD1B(dist=10348) chr11 123370239 123370239 T C het . 1 +intergenic LOC100128242(dist=67834),GRAMD1B(dist=6327) chr11 123374260 123374260 - T het . 1 +intergenic LOC100128242(dist=67850),GRAMD1B(dist=6311) chr11 123374276 123374276 A G het . 2 +intronic GRAMD1B chr11 123416459 123416459 T - het . 2 +exonic GRAMD1B chr11 123477352 123477352 G A het . 19 +exonic GRAMD1B chr11 123477363 123477363 C A het . 22 +exonic GRAMD1B chr11 123479372 123479372 G A het . 12 +exonic GRAMD1B chr11 123489870 123489870 C A het . 18 +intronic SCN3B chr11 123505099 123505099 C T het . 3 +intronic SCN3B chr11 123523868 123523870 AAG - het . 2 +intergenic SCN3B(dist=57409),ZNF202(dist=11910) chr11 123582724 123582725 TT - het . 2 +intronic ZNF202 chr11 123599823 123599823 C A het . 12 +intergenic TMEM225(dist=17558),OR8D4(dist=3229) chr11 123773907 123773910 TTAG - het . 2 +exonic OR8D4 chr11 123777497 123777497 G A het . 15 +intergenic OR8D4(dist=2843),OR4D5(dist=29398) chr11 123780926 123780926 T A het . 1 +intergenic OR10G4(dist=4295),OR10G9(dist=2208) chr11 123891512 123891512 C T het . 2 +intergenic OR10G4(dist=4299),OR10G9(dist=2204) chr11 123891516 123891516 T C het . 2 +intergenic VWA5A(dist=11419),OR10D3(dist=26886) chr11 124029037 124029037 G A het . 4 +exonic OR8G2P chr11 124096275 124096275 T C het . 8 +exonic OR8G2P chr11 124096277 124096277 G A het . 8 +intergenic OR8G2P(dist=4487),OR8G1(dist=19568) chr11 124100855 124100855 T G het . 2 +intergenic OR8G2P(dist=7595),OR8G1(dist=16460) chr11 124103963 124103963 A G het . 1 +intergenic OR8G2P(dist=13036),OR8G1(dist=11019) chr11 124109404 124109404 C T het . 11 +intergenic OR8G2P(dist=13148),OR8G1(dist=10907) chr11 124109516 124109516 C T het . 10 +intronic OR8G1 chr11 124134042 124134042 T - het . 2 +exonic OR8G5 chr11 124135481 124135481 C T het . 31 +intronic TBRG1 chr11 124500584 124500584 A G het . 9 +intronic ROBO3 chr11 124739325 124739325 - C het . 5 +intronic ROBO3 chr11 124739332 124739332 A C het . 6 +UTR3 HEPACAM(NM_152722:c.*112G>T) chr11 124790922 124790922 C A het . 5 +exonic HEPACAM chr11 124792656 124792656 G A het . 39 +intergenic HEPACAM(dist=14188),CCDC15(dist=3520) chr11 124820496 124820497 AT GA het . 10 +intronic CCDC15 chr11 124856951 124856951 C T het . 5 +intronic CCDC15 chr11 124861269 124861269 C T het . 2 +intergenic CCDC15(dist=3733),SLC37A2(dist=17895) chr11 124915118 124915118 T - het . 3 +intronic SLC37A2 chr11 124954799 124954799 C A het . 10 +exonic PKNOX2 chr11 125301193 125301195 GAG - het . 14 +ncRNA_intronic STT3A-AS1 chr11 125442504 125442504 T - het . 13 +ncRNA_intronic STT3A-AS1 chr11 125445680 125445680 - T het . 4 +intronic STT3A chr11 125467144 125467144 C A het . 12 +intronic STT3A chr11 125468916 125468916 G A het . 2 +intronic CHEK1 chr11 125496886 125496886 T - het . 2 +intronic CHEK1 chr11 125497466 125497466 G T het . 8 +intronic CHEK1 chr11 125505505 125505505 T - het . 9 +intronic CHEK1 chr11 125531961 125531961 T C het . 2 +intronic PATE2 chr11 125648494 125648494 C T het . 21 +intronic PATE2 chr11 125648503 125648503 G A het . 20 +intergenic PATE3(dist=20877),PATE4(dist=20839) chr11 125682372 125682372 - T het . 3 +intergenic PATE3(dist=20882),PATE4(dist=20834) chr11 125682377 125682377 A T het . 3 +intronic PATE4 chr11 125703386 125703386 C A het . 4 +splicing PATE4(NM_001144874:exon2:c.59-2A>C) chr11 125707761 125707761 A C het . 8 +intergenic PATE4(dist=14036),HYLS1(dist=29506) chr11 125724003 125724003 A G het . 2 +intergenic PATE4(dist=16074),HYLS1(dist=27468) chr11 125726041 125726041 T A het . 2 +intronic HYLS1 chr11 125760137 125760137 - C het . 3 +UTR3 HYLS1(NM_145014:c.*262A>C,NM_001134793:c.*262A>C) chr11 125770425 125770425 A C het . 2 +intronic DDX25 chr11 125775011 125775011 C T het . 3 +intronic DDX25 chr11 125783396 125783396 G A het . 1 +intronic VSIG10L2 chr11 125821690 125821690 A C het . 4 +intronic CDON chr11 125841309 125841309 T A het . 2 +exonic CDON chr11 125880524 125880524 C A het . 17 +intergenic CDON(dist=27970),RPUSD4(dist=110832) chr11 125961157 125961157 T C het . 9 +intronic FAM118B chr11 126084398 126084398 G T het . 2 +downstream FOXRED1(dist=405) chr11 126148432 126148432 T C het . 6 +intronic KIRREL3 chr11 126315024 126315024 T C het . 4 +intronic KIRREL3 chr11 126325717 126325717 A C het . 4 +intronic KIRREL3 chr11 126758492 126758492 C T het . 2 +intronic KIRREL3 chr11 126758497 126758497 C T het . 2 +intronic KIRREL3 chr11 126758506 126758506 C A het . 1 +intronic KIRREL3 chr11 126817880 126817880 C A het . 2 +intergenic LOC101929473(dist=113513),LOC101929497(dist=56251) chr11 127084714 127084714 C A het . 2 +intergenic LOC101929497(dist=165027),LINC02098(dist=706706) chr11 127371955 127371955 T A het . 3 +intergenic LOC101929497(dist=557261),LINC02098(dist=314469) chr11 127764189 127764192 CAAA - het . 2 +intergenic LOC101929497(dist=629721),LINC02098(dist=242012) chr11 127836649 127836649 G T het . 1 +intergenic LOC101929497(dist=742327),LINC02098(dist=129406) chr11 127949255 127949255 T C het . 2 +intergenic LINC02098(dist=13291),ETS1(dist=204029) chr11 128124627 128124627 G A het . 2 +intronic ETS1 chr11 128357267 128357267 C G het . 1 +exonic KCNJ1 chr11 128709255 128709255 T C het . 26 +intronic ARHGAP32 chr11 128846547 128846547 C A het . 22 +intergenic LOC399975(dist=74121),BARX2(dist=18701) chr11 129227180 129227180 - TTC het . 2 +intronic BARX2 chr11 129287749 129287749 A G het . 2 +intronic BARX2 chr11 129312531 129312531 - GTTTCTCA het . 6 +intronic BARX2 chr11 129312602 129312602 C T het . 8 +intronic BARX2 chr11 129312660 129312660 C T het . 21 +intronic BARX2 chr11 129314619 129314619 C G het . 2 +downstream BARX2(dist=621) chr11 129322795 129322795 T C het . 2 +downstream BARX2(dist=642) chr11 129322816 129322819 AAAC - het . 2 +intergenic BARX2(dist=67430),LINC01395(dist=92412) chr11 129389604 129389604 C T het . 4 +intergenic BARX2(dist=116801),LINC01395(dist=43041) chr11 129438975 129438975 C A het . 2 +intergenic LINC01395(dist=10819),TMEM45B(dist=187693) chr11 129497983 129497983 G T het . 8 +intergenic LINC01395(dist=28796),TMEM45B(dist=169716) chr11 129515960 129515960 C A het . 4 +intergenic LINC01395(dist=109000),TMEM45B(dist=89512) chr11 129596164 129596164 C T het . 3 +intergenic LINC01395(dist=115083),TMEM45B(dist=83429) chr11 129602247 129602247 G A het . 1 +intergenic LINC01395(dist=174688),TMEM45B(dist=23824) chr11 129661852 129661852 T C het . 3 +intronic PRDM10 chr11 129775188 129775188 C T het . 2 +intronic PRDM10 chr11 129775735 129775735 C A het . 19 +intronic PRDM10 chr11 129784554 129784554 C A het . 12 +exonic APLP2 chr11 129991653 129991658 GAAGAG - het . 11 +exonic ST14 chr11 130059736 130059736 - C het . 12 +intronic ST14 chr11 130060612 130060612 A G het . 3 +intronic ST14 chr11 130064705 130064705 A G het . 4 +exonic ST14 chr11 130066335 130066335 C T het . 22 +intronic ST14 chr11 130066349 130066349 T G het . 21 +intronic ST14 chr11 130066372 130066372 G A het . 13 +intronic ST14 chr11 130068061 130068061 C A het . 5 +intronic ST14 chr11 130068085 130068085 C A het . 6 +intronic ST14 chr11 130075575 130075575 A G het . 2 +intronic ZBTB44 chr11 130165526 130165526 A - het . 9 +ncRNA_intronic LOC646383 chr11 130226108 130226108 C T het . 3 +exonic ADAMTS8 chr11 130297948 130297948 C G het . 22 +exonic ADAMTS8 chr11 130297957 130297957 T C het . 20 +intergenic ADAMTS15(dist=70043),MIR8052(dist=120047) chr11 130416583 130416583 C A het . 2 +intergenic ADAMTS15(dist=71426),MIR8052(dist=118664) chr11 130417966 130417966 A T het . 2 +intergenic ADAMTS15(dist=113099),MIR8052(dist=76991) chr11 130459639 130459639 T C het . 2 +intronic SNX19 chr11 130760593 130760593 G T het . 2 +intronic SNX19 chr11 130765462 130765462 G T het . 2 +intronic SNX19 chr11 130765484 130765485 TG CA het . 2 +exonic SNX19 chr11 130780015 130780015 C T het . 9 +exonic SNX19 chr11 130784616 130784616 T C het . 2 +intergenic SNX19(dist=166279),NTM(dist=287710) chr11 130952661 130952661 A G het . 1 +intergenic SNX19(dist=440450),NTM(dist=13539) chr11 131226832 131226832 - T het . 4 +intronic NTM chr11 131258945 131258945 G A het . 4 +intronic NTM chr11 131457341 131457341 A - het . 2 +intronic NTM chr11 131582114 131582114 G T het . 2 +intronic NTM chr11 131675812 131675812 T A het . 3 +intronic NTM chr11 132202071 132202071 A G het . 2 +intronic OPCML chr11 132448168 132448168 T C het . 2 +intronic OPCML chr11 132869464 132869464 C G het . 2 +intronic SPATA19 chr11 133712348 133712348 G A het . 5 +intergenic SPATA19(dist=19894),MIR4697HG(dist=31003) chr11 133735327 133735327 T A het . 9 +intergenic SPATA19(dist=19910),MIR4697HG(dist=30987) chr11 133735343 133735343 G T het . 9 +intergenic SPATA19(dist=19927),MIR4697HG(dist=30970) chr11 133735360 133735360 C T het . 8 +intronic IGSF9B chr11 133788992 133788992 T C het . 5 +intronic IGSF9B chr11 133792021 133792021 T C het . 3 +intronic NCAPD3 chr11 134046044 134046044 A G het . 2 +exonic VPS26B chr11 134113147 134113147 C T het . 15 +intronic GLB1L3 chr11 134164712 134164712 C T het . 1 +intronic GLB1L3 chr11 134188414 134188414 T C het . 4 +intronic GLB1L3 chr11 134188450 134188450 C A het . 5 +intronic GLB1L2 chr11 134231218 134231218 - A het . 2 +ncRNA_intronic LOC729305 chr11 134614175 134614175 T C het . 2 +ncRNA_intronic LOC729305 chr11 134614183 134614183 T G het . 2 +intergenic LOC729305(dist=9660),LOC100507548(dist=211876) chr11 134643365 134643370 GAAGAG - het . 2 +intergenic LOC100507548(dist=43617),NONE(dist=NONE) chr11 134900310 134900310 A G het . 2 +intergenic WASH8P(dist=74215),IQSEC3(dist=10571) chr12 165478 165478 T C het . 2 +intergenic WASH8P(dist=78095),IQSEC3(dist=6691) chr12 169358 169358 G A het . 2 +intergenic WASH8P(dist=78212),IQSEC3(dist=6574) chr12 169475 169475 G T het . 3 +intergenic WASH8P(dist=78224),IQSEC3(dist=6561) chr12 169487 169488 TA AT het . 2 +intergenic WASH8P(dist=78239),IQSEC3(dist=6547) chr12 169502 169502 - AAACG het . 2 +exonic IQSEC3 chr12 247900 247900 G A het . 7 +exonic IQSEC3 chr12 247923 247923 A G het . 8 +intronic IQSEC3 chr12 271022 271022 G A het . 1 +exonic IQSEC3 chr12 284058 284058 T C het . 7 +exonic KDM5A chr12 404908 404908 C A het . 41 +intronic KDM5A chr12 427166 427167 AA - het . 11 +intronic KDM5A chr12 432617 432617 C A het . 17 +intronic KDM5A chr12 432654 432654 T A het . 15 +intronic KDM5A chr12 473971 473971 C A het . 1 +splicing KDM5A(NM_001042603:exon2:c.243+1G>T) chr12 495062 495062 C A het . 30 +intronic KDM5A chr12 496533 496533 C T het . 10 +intronic CCDC77 chr12 519793 519793 A G het . 3 +intronic CCDC77 chr12 537841 537841 - A het . 7 +exonic CCDC77 chr12 549847 549847 C T het . 27 +intronic CCDC77 chr12 550924 550924 T C het . 5 +exonic WNK1 chr12 936357 936357 C A het . 36 +intronic WNK1 chr12 939450 939450 T G het . 1 +intronic WNK1 chr12 966097 966097 A G het . 2 +intronic WNK1 chr12 966124 966124 T C het . 9 +exonic WNK1 chr12 970297 970297 A - het . 19 +intronic WNK1 chr12 987534 987534 T - het . 20 +intronic WNK1 chr12 989397 989397 A G het . 2 +intronic WNK1 chr12 993652 993652 T G het . 8 +exonic WNK1 chr12 994655 994655 C A het . 18 +intronic RAD52 chr12 1038602 1038603 AT CA het . 2 +intronic ERC1 chr12 1192867 1192867 C T het . 2 +intronic ERC1 chr12 1419127 1419127 G T het . 3 +intronic ADIPOR2 chr12 1811307 1811307 - A het . 2 +intronic ADIPOR2 chr12 1839795 1839795 C A het . 2 +intronic CACNA2D4 chr12 1905091 1905091 G A het . 1 +intronic CACNA2D4 chr12 1965116 1965116 C T het . 8 +exonic DCP1B chr12 2062323 2062323 - TGC het . 15 +intergenic DCP1B(dist=14915),CACNA1C-IT2(dist=28902) chr12 2128616 2128616 A C het . 2 +intronic CACNA1C chr12 2180176 2180176 T C het . 4 +intronic CACNA1C chr12 2553576 2553576 A G het . 2 +intronic CACNA1C chr12 2557930 2557930 A - het . 2 +intronic CACNA1C chr12 2690263 2690263 T C het . 2 +intronic CACNA1C chr12 2691016 2691016 T G het . 3 +intronic CACNA1C chr12 2757769 2757769 T C het . 6 +intronic CACNA1C chr12 2757782 2757782 C T het . 6 +intronic CACNA1C chr12 2768972 2768972 T A het . 2 +intergenic CACNA1C(dist=31858),ITFG2-AS1(dist=12819) chr12 2838973 2838973 T C het . 2 +ncRNA_intronic ITFG2-AS1 chr12 2861918 2861918 C A het . 1 +exonic FKBP4 chr12 2910485 2910485 C A het . 35 +intronic RHNO1 chr12 2996174 2996174 A G het . 18 +intronic RHNO1 chr12 2996211 2996211 A G het . 10 +intronic TULP3 chr12 3002883 3002883 T - het . 2 +intronic TULP3 chr12 3018676 3018676 T - het . 5 +intronic TULP3 chr12 3031358 3031358 T C het . 4 +intronic TEAD4 chr12 3131206 3131206 T C het . 8 +intronic TEAD4 chr12 3131238 3131238 A G het . 5 +intronic TEAD4 chr12 3144712 3144712 G T het . 3 +intergenic TEAD4(dist=14363),TSPAN9(dist=22316) chr12 3164205 3164205 - ATACTT het . 2 +intronic TSPAN9 chr12 3207923 3207923 T - het . 3 +intronic TSPAN9 chr12 3375223 3375223 T C het . 2 +intronic TSPAN9 chr12 3375228 3375228 C T het . 2 +splicing PRMT8(NM_001256536:exon3:c.390+2T>G,NM_019854:exon3:c.417+2T>G) chr12 3659259 3659259 T G het . 10 +exonic PRMT8 chr12 3702313 3702313 G A het . 21 +intronic CRACR2A chr12 3753855 3753855 C A het . 13 +intergenic CRACR2A(dist=29862),PARP11(dist=25799) chr12 3892228 3892228 - CTTT het . 5 +intergenic CRACR2A(dist=47764),PARP11(dist=7897) chr12 3910130 3910130 T C het . 2 +intergenic CRACR2A(dist=47771),PARP11(dist=7890) chr12 3910137 3910137 T G het . 2 +intergenic CRACR2A(dist=47779),PARP11(dist=7882) chr12 3910145 3910145 G T het . 1 +intronic PARP11 chr12 3948718 3948718 G A het . 32 +intronic PARP11 chr12 3950648 3950648 G T het . 12 +intronic PARP11 chr12 3955945 3955945 - AAAG het . 2 +UTR5 PARP11(NM_001286522:c.-43382delA,NM_001286521:c.-43382delA,NM_020367:c.-67delA) chr12 3982462 3982462 T - het . 5 +intergenic PARP11(dist=48766),CCND2-AS1(dist=326551) chr12 4031380 4031382 TCA - het . 4 +intergenic PARP11(dist=48774),CCND2-AS1(dist=326545) chr12 4031388 4031388 A G het . 4 +intergenic PARP11(dist=66925),CCND2-AS1(dist=308394) chr12 4049539 4049539 A G het . 2 +intergenic PARP11(dist=66944),CCND2-AS1(dist=308375) chr12 4049558 4049558 A G het . 1 +intergenic PARP11(dist=156294),CCND2-AS1(dist=219025) chr12 4138908 4138908 G A het . 1 +intergenic PARP11(dist=290253),CCND2-AS1(dist=85066) chr12 4272867 4272867 T - het . 3 +intergenic CCND2(dist=9336),TIGAR(dist=6501) chr12 4423858 4423858 A - het . 2 +intronic TIGAR chr12 4433639 4433639 T C het . 4 +intergenic FGF23(dist=18568),FGF6(dist=35846) chr12 4507462 4507462 G A het . 2 +exonic FGF6 chr12 4554548 4554548 G C het . 18 +intronic C12orf4 chr12 4614442 4614442 C A het . 16 +intronic C12orf4 chr12 4634993 4634993 T C het . 2 +intronic RAD51AP1 chr12 4655878 4655878 T - het . 2 +intergenic RAD51AP1(dist=20751),DYRK4(dist=9274) chr12 4689964 4689964 T - het . 15 +intronic AKAP3 chr12 4725134 4725134 G A het . 1 +exonic AKAP3 chr12 4737697 4737697 A C het . 18 +exonic AKAP3 chr12 4737715 4737715 C T het . 19 +intronic NDUFA9 chr12 4762872 4762872 T - het . 7 +ncRNA_intronic GAU1 chr12 4815233 4815233 C G het . 2 +intergenic GALNT8(dist=18216),KCNA6(dist=18234) chr12 4900108 4900108 - AAAAC het . 2 +intronic KCNA6 chr12 4947496 4947496 G A het . 1 +exonic KCNA5 chr12 5154278 5154278 A C het . 14 +intergenic LINC02443(dist=10243),NTF3(dist=178720) chr12 5362560 5362560 - T het . 3 +intronic ANO2 chr12 5767618 5767620 CAT - het . 2 +intronic ANO2 chr12 5819954 5819954 C T het . 2 +intronic ANO2 chr12 5841841 5841841 G C het . 5 +intronic ANO2 chr12 5954005 5954005 - TGTT het . 6 +intronic VWF chr12 6065807 6065807 - A het . 4 +intronic VWF chr12 6076640 6076640 A G het . 23 +exonic VWF chr12 6076697 6076697 T A het . 18 +intronic VWF chr12 6095067 6095067 C A het . 4 +intronic VWF chr12 6126167 6126167 T G het . 5 +intronic VWF chr12 6190498 6190498 - T het . 1 +intronic VWF chr12 6190505 6190505 G T het . 2 +intronic VWF chr12 6204903 6204903 A - het . 7 +intergenic VWF(dist=40193),CD9(dist=34839) chr12 6274034 6274034 G A het . 2 +intergenic VWF(dist=65582),CD9(dist=9450) chr12 6299423 6299423 A C het . 3 +intergenic VWF(dist=65589),CD9(dist=9443) chr12 6299430 6299430 G C het . 3 +intergenic VWF(dist=65607),CD9(dist=9425) chr12 6299448 6299448 A G het . 3 +intergenic CD9(dist=31168),PLEKHG6(dist=40997) chr12 6378605 6378605 G A het . 5 +intronic PLEKHG6 chr12 6427903 6427903 A C het . 3 +exonic PLEKHG6 chr12 6436836 6436836 C A het . 8 +intronic TNFRSF1A chr12 6439729 6439729 A C het . 13 +intronic TNFRSF1A chr12 6439732 6439732 A C het . 13 +intronic TAPBPL chr12 6570163 6570163 C T het . 3 +intronic NCAPD2 chr12 6612003 6612003 - TTG het . 2 +intronic NCAPD2 chr12 6623382 6623382 A G het . 13 +intronic NCAPD2 chr12 6623389 6623389 T C het . 11 +intronic NCAPD2 chr12 6632564 6632564 - TTT het . 2 +intronic NCAPD2 chr12 6640267 6640267 G A het . 5 +exonic CHD4 chr12 6703700 6703700 G A het . 9 +intronic CHD4 chr12 6705123 6705124 AA - het . 5 +intronic CHD4 chr12 6705147 6705147 C A het . 10 +intronic CHD4 chr12 6709945 6709945 G A het . 2 +intergenic ACRBP(dist=1188),ING4(dist=1936) chr12 6757768 6757768 A G het . 2 +intronic ING4 chr12 6761763 6761763 G C het . 6 +intronic ING4 chr12 6761816 6761816 T C het . 11 +exonic ZNF384 chr12 6777070 6777075 TGCTGC - het . 18 +intronic USP5 chr12 6969731 6969731 A G het . 7 +UTR5 TPI1(NM_001258026:c.-946_-945insC) chr12 6977324 6977324 - C het . 6 +UTR5 TPI1(NM_001258026:c.-911A>G) chr12 6977359 6977359 A G het . 13 +intronic ATN1 chr12 7043230 7043230 G C het . 13 +intronic ATN1 chr12 7044647 7044647 - G het . 3 +exonic ATN1 chr12 7045892 7045906 CAGCAGCAGCAGCAG - het . 17 +intronic C12orf57 chr12 7053362 7053362 A G het . 17 +intronic PTPN6 chr12 7069425 7069425 G C het . 8 +intronic C1S chr12 7175097 7175098 AG - het . 26 +intronic C1R chr12 7244956 7244956 A T het . 11 +intronic C1R chr12 7244962 7244962 T G het . 13 +UTR3 C1RL(NM_001297642:c.*1825C>T,NM_001297640:c.*1259C>T,NM_016546:c.*1259C>T) chr12 7247728 7247728 G A het . 6 +exonic RBP5 chr12 7277236 7277236 T A het . 4 +intronic CLSTN3 chr12 7294991 7294991 A C het . 2 +intronic CLSTN3 chr12 7300114 7300114 - T het . 2 +intronic PEX5 chr12 7350736 7350736 A T het . 1 +intronic ACSM4 chr12 7476237 7476237 C T het . 6 +intronic CD163L1 chr12 7521564 7521565 GA - het . 20 +intergenic CD163(dist=127166),APOBEC1(dist=18416) chr12 7783580 7783580 - T het . 6 +exonic APOBEC1 chr12 7805150 7805151 CC TT het . 19 +intronic DPPA3 chr12 7868866 7868867 TT - het . 19 +intronic CLEC4C chr12 7898824 7898824 A G het . 3 +intronic NANOGNB chr12 7922562 7922562 C A het . 24 +intergenic NANOGNB(dist=9331),NANOG(dist=5944) chr12 7936048 7936048 A - het . 3 +intronic NANOG chr12 7942514 7942514 C A het . 5 +intergenic NANOG(dist=4658),SLC2A14(dist=11792) chr12 7953315 7953316 GT CC het . 2 +intergenic NANOG(dist=11252),SLC2A14(dist=5199) chr12 7959909 7959909 G T het . 2 +intronic SLC2A14 chr12 7970721 7970721 T G het . 2 +intronic SLC2A14 chr12 7971833 7971833 C A het . 8 +intronic SLC2A14 chr12 7984447 7984447 G A het . 2 +intergenic SLC2A3(dist=1426),FOXJ2(dist=95040) chr12 8090318 8090319 AA - het . 2 +intergenic NECAP1(dist=5157),CLEC4A(dist=20698) chr12 8255530 8255530 C T het . 1 +intronic CLEC4A chr12 8289300 8289300 T C het . 6 +intergenic FAM66C(dist=1658),FAM90A1(dist=18602) chr12 8355254 8355254 T C het . 2 +ncRNA_exonic FAM86FP chr12 8384186 8384186 A G het . 9 +intergenic FAM86FP(dist=56247),LINC00937(dist=57771) chr12 8451789 8451789 A C het . 2 +intergenic FAM86FP(dist=112643),LINC00937(dist=1374) chr12 8508185 8508186 AG - het . 3 +ncRNA_exonic LINC00937 chr12 8542913 8542913 A G het . 4 +ncRNA_exonic LINC00937 chr12 8542916 8542916 G A het . 4 +ncRNA_exonic LINC00937 chr12 8542940 8542940 A C het . 4 +intronic CLEC6A chr12 8616932 8616932 - C het . 1 +exonic CLEC6A chr12 8628726 8628726 C T het . 17 +UTR5 CLEC4E(NM_014358:c.-27_-26insGA) chr12 8693419 8693419 - TC het . 17 +exonic AICDA chr12 8757481 8757481 G A het . 33 +intronic AICDA chr12 8757521 8757521 - A het . 24 +intronic AICDA chr12 8757523 8757523 A - het . 19 +intergenic AICDA(dist=23927),MFAP5(dist=9149) chr12 8789390 8789390 G T het . 25 +intergenic AICDA(dist=30863),MFAP5(dist=2213) chr12 8796326 8796326 G A het . 2 +intergenic MFAP5(dist=16719),RIMKLB(dist=2070) chr12 8832203 8832203 A G het . 1 +UTR5 RIMKLB(NM_001352269:c.-15647G>T,NM_001352270:c.-15647G>T,NM_001352271:c.-15647G>T,NM_001297776:c.-15647G>T,NM_020734:c.-15647G>T) chr12 8850816 8850816 G T het . 6 +intronic RIMKLB chr12 8895044 8895044 C A het . 6 +intronic A2ML1 chr12 8976307 8976307 C A het . 11 +intronic A2ML1 chr12 8988777 8988777 A G het . 3 +intronic A2ML1 chr12 8990813 8990813 A G het . 4 +exonic A2ML1 chr12 9020489 9020489 A G het . 24 +intronic KLRG1 chr12 9110093 9110093 T A het . 2 +intronic KLRG1 chr12 9127502 9127502 C T het . 2 +ncRNA_intronic LINC00612 chr12 9212596 9212596 T C het . 3 +intronic A2M chr12 9242623 9242623 A T het . 8 +intronic A2M chr12 9246488 9246491 CAAA - het . 2 +intronic A2M chr12 9262289 9262289 G T het . 3 +intronic PZP chr12 9305670 9305670 C T het . 14 +intronic PZP chr12 9310565 9310565 C T het . 4 +intronic PZP chr12 9310576 9310576 T - het . 4 +intronic PZP chr12 9310576 9310576 T G het . 2 +intronic PZP chr12 9313518 9313518 T A het . 2 +intronic PZP chr12 9321658 9321658 C T het . 7 +intronic PZP chr12 9358139 9358139 A G het . 2 +intergenic PZP(dist=13012),A2MP1(dist=7151) chr12 9373978 9373978 - G het . 2 +intergenic PZP(dist=13016),A2MP1(dist=7147) chr12 9373982 9373982 A G het . 2 +ncRNA_intronic DDX12P chr12 9573288 9573295 AGGAAGGG - het . 7 +intronic KLRB1 chr12 9751035 9751035 - AT het . 16 +intronic KLRB1 chr12 9754221 9754221 - AAAC het . 15 +ncRNA_intronic LOC374443 chr12 9783687 9783687 A T het . 2 +ncRNA_intronic LOC374443 chr12 9787275 9787275 G A het . 2 +upstream CLEC2D(dist=58) chr12 9822246 9822246 T - het . 7 +intronic CLEC2D chr12 9844695 9844695 T C het . 2 +UTR3 CLEC2D(NM_001197317:c.*969_*970insTGC,NM_001197319:c.*1042_*1043insTGC,NM_001197318:c.*1042_*1043insTGC,NM_013269:c.*969_*970insTGC,NM_001004419:c.*1042_*1043insTGC) chr12 9848439 9848439 - TGC het . 24 +UTR3 CLEC2D(NM_001197317:c.*984A>C,NM_001197319:c.*1057A>C,NM_001197318:c.*1057A>C,NM_013269:c.*984A>C,NM_001004419:c.*1057A>C) chr12 9848454 9848454 A C het . 27 +UTR3 CLEC2D(NM_001197317:c.*1000_*1001insGAT,NM_001197319:c.*1073_*1074insGAT,NM_001197318:c.*1073_*1074insGAT,NM_013269:c.*1000_*1001insGAT,NM_001004419:c.*1073_*1074insGAT) chr12 9848470 9848470 - GAT het . 27 +exonic CLECL1 chr12 9885707 9885707 - TAAGT het . 32 +intergenic CD69(dist=23540),KLRF1(dist=43040) chr12 9937037 9937037 T C het . 3 +exonic KLRF1 chr12 9984965 9984965 G A het . 28 +exonic KLRF1 chr12 9994446 9994448 TGT - het . 20 +UTR3 CLEC2B(NM_005127:c.*228_*229insCTTTCT) chr12 10005670 10005670 - AGAAAG het . 3 +intronic CLEC2B chr12 10014936 10014936 A T het . 4 +intronic KLRF2 chr12 10045503 10045503 A - het . 8 +intronic CLEC1B chr12 10148031 10148031 T A het . 13 +intronic CLEC1B chr12 10149204 10149204 T - het . 8 +intronic CLEC1B chr12 10149206 10149207 TA GG het . 8 +exonic CLEC12B chr12 10165469 10165469 A G het . 17 +ncRNA_intronic LOC102724020 chr12 10178500 10178500 C T het . 1 +intronic CLEC9A chr12 10190537 10190537 C T het . 1 +intergenic CLEC7A(dist=3977),OLR1(dist=24054) chr12 10286845 10286845 G A het . 2 +intronic OLR1 chr12 10312648 10312648 C A het . 3 +intronic OLR1 chr12 10314118 10314118 C A het . 2 +intronic TMEM52B chr12 10326648 10326651 TTTG - het . 12 +intergenic GABARAPL1(dist=7383),KLRD1(dist=8442) chr12 10383118 10383118 C T het . 2 +intronic KLRD1 chr12 10397404 10397404 - C het . 2 +intronic KLRD1 chr12 10409723 10409723 - TTGTC het . 1 +intronic KLRD1 chr12 10454556 10454556 G A het . 1 +UTR5 KLRD1(NM_001351062:c.-1887A>C) chr12 10458790 10458790 A C het . 4 +intergenic KLRD1(dist=34114),LOC101928100(dist=12404) chr12 10503964 10503964 C - het . 3 +intergenic KLRD1(dist=36707),LOC101928100(dist=9811) chr12 10506557 10506557 T - het . 2 +ncRNA_intronic LOC101928100 chr12 10525644 10525644 A G het . 2 +exonic KLRC3 chr12 10570965 10570965 C G het . 10 +intronic KLRC3 chr12 10571158 10571158 C T het . 4 +intronic KLRC3 chr12 10571177 10571177 A G het . 4 +ncRNA_intronic LINC02446 chr12 10721348 10721348 T C het . 2 +intergenic LINC02446(dist=5817),KLRA1P(dist=6973) chr12 10734104 10734104 C T het . 1 +intronic MAGOHB chr12 10763176 10763177 CA - het . 6 +exonic MAGOHB chr12 10763236 10763236 G C het . 21 +intronic STYK1 chr12 10777463 10777463 C A het . 18 +intronic STYK1 chr12 10780434 10780434 A T het . 6 +intergenic TAS2R9(dist=11781),TAS2R10(dist=3397) chr12 10974548 10974548 T C het . 2 +exonic TAS2R10 chr12 10978113 10978113 C A het . 37 +ncRNA_intronic PRH1-PRR4 chr12 11150541 11150541 A - het . 2 +ncRNA_intronic PRH1-PRR4 chr12 11150551 11150551 G A het . 3 +ncRNA_intronic PRH1-PRR4 chr12 11150579 11150579 C T het . 2 +ncRNA_intronic PRH1-PRR4 chr12 11172109 11172109 A G het . 3 +exonic TAS2R31 chr12 11183642 11183642 A G het . 32 +exonic TAS2R31 chr12 11183676 11183676 C T het . 45 +exonic TAS2R31 chr12 11183697 11183697 C A het . 37 +ncRNA_intronic PRH1-PRR4 chr12 11218576 11218576 T G het . 2 +ncRNA_intronic PRH1-PRR4 chr12 11218578 11218578 A G het . 2 +ncRNA_intronic PRH1-PRR4 chr12 11218588 11218588 C T het . 2 +ncRNA_intronic PRH1-PRR4 chr12 11224198 11224198 - C het . 2 +ncRNA_intronic PRH1-PRR4 chr12 11224202 11224202 A - het . 2 +ncRNA_intronic PRH1-PRR4 chr12 11230343 11230343 T C het . 13 +ncRNA_intronic PRH1-PRR4 chr12 11230496 11230497 GG AA het . 20 +ncRNA_intronic PRH1-PRR4 chr12 11230520 11230520 G A het . 17 +ncRNA_intronic PRH1-PRR4 chr12 11277468 11277468 C T het . 2 +downstream SMIM10L1(dist=630) chr12 11329249 11329249 C T het . 2 +intergenic TAS2R42(dist=3879),PRB3(dist=75425) chr12 11343422 11343422 G A het . 2 +intronic PRB3 chr12 11420334 11420334 G - het . 3 +intronic PRB3 chr12 11421721 11421721 A G het . 2 +intergenic PRB3(dist=20889),PRB4(dist=16485) chr12 11443530 11443530 C T het . 3 +intronic PRB4 chr12 11461836 11461836 T C het . 10 +intronic PRB4 chr12 11461990 11461990 G - het . 2 +intronic PRB4 chr12 11462002 11462002 C A het . 4 +exonic PRB1 chr12 11506211 11506211 A C het . 6 +exonic PRB1 chr12 11506893 11506893 C T het . 8 +ncRNA_intronic LOC440084 chr12 11592584 11592584 C T het . 1 +intronic ETV6 chr12 11912546 11912546 G A het . 2 +intergenic ETV6(dist=100398),BCL2L14(dist=75155) chr12 12148723 12148723 - A het . 3 +intronic LRP6 chr12 12291106 12291106 A - het . 8 +intronic LRP6 chr12 12337343 12337343 - AAAA het . 3 +intergenic LRP6(dist=25552),MANSC1(dist=36823) chr12 12445363 12445363 T - het . 4 +UTR3 MANSC1(NM_018050:c.*158T>C,NM_001363613:c.*158T>C) chr12 12482803 12482803 A G het . 3 +intronic MANSC1 chr12 12486233 12486233 A G het . 2 +UTR3 BORCS5(NM_001300742:c.*5T>C,NM_001330356:c.*5T>C,NM_058169:c.*5T>C) chr12 12618715 12618715 T C het . 6 +intronic DUSP16 chr12 12710468 12710468 C A het . 3 +intergenic DUSP16(dist=47528),CREBL2(dist=1791) chr12 12762976 12762976 A C het . 1 +intronic CREBL2 chr12 12790737 12790737 G A het . 4 +exonic GPR19 chr12 12814525 12814525 C A het . 21 +exonic APOLD1 chr12 12940464 12940464 T C het . 16 +intergenic APOLD1(dist=7619),DDX47(dist=14262) chr12 12952018 12952018 A G het . 2 +downstream RPL13AP20(dist=30) chr12 13029100 13029100 G C het . 14 +ncRNA_intronic GPRC5D-AS1 chr12 13149585 13149585 A - het . 2 +ncRNA_exonic HTR7P1 chr12 13154583 13154583 G - het . 4 +intronic GSG1 chr12 13241057 13241057 A C het . 8 +intergenic EMP1(dist=96581),LINC01559(dist=57316) chr12 13466289 13466289 C T het . 2 +intronic GRIN2B chr12 13881311 13881311 G T het . 3 +intronic GRIN2B chr12 13980776 13980776 C T het . 4 +intronic GRIN2B chr12 14041727 14041727 A - het . 2 +intergenic GRIN2B(dist=139090),ATF7IP(dist=246186) chr12 14272380 14272380 A G het . 3 +intergenic GRIN2B(dist=202266),ATF7IP(dist=183007) chr12 14335556 14335559 TGTT - het . 2 +intronic ATF7IP chr12 14529900 14529900 C A het . 3 +intronic ATF7IP chr12 14631111 14631111 T C het . 3 +intronic PLBD1 chr12 14659849 14659849 G C het . 8 +exonic PLBD1 chr12 14720555 14720557 GCA - het . 10 +exonic PLBD1 chr12 14720583 14720583 T C het . 11 +intronic GUCY2C chr12 14774849 14774849 T A het . 3 +intronic GUCY2C chr12 14823751 14823751 T A het . 3 +intronic GUCY2C chr12 14828184 14828184 G A het . 1 +intergenic GUCY2C(dist=1601),HIST4H4(dist=72534) chr12 14851120 14851120 A T het . 2 +intergenic GUCY2C(dist=53585),HIST4H4(dist=20550) chr12 14903104 14903104 T C het . 1 +UTR5 HIST4H4(NM_175054:c.-10T>C) chr12 14924028 14924028 A G het . 3 +intronic ERP27 chr12 15091221 15091221 - T het . 4 +intergenic LINC01489(dist=99423),RERG(dist=1667) chr12 15259040 15259049 TTTTCTTTCT - het . 7 +intronic RERG chr12 15273429 15273429 - A het . 2 +intronic RERG chr12 15273852 15273852 C A het . 14 +intronic PTPRO chr12 15659974 15659974 T G het . 1 +intronic PTPRO chr12 15669452 15669452 - AAAAG het . 3 +intronic PTPRO chr12 15669553 15669553 A G het . 4 +intronic PTPRO chr12 15669585 15669585 T G het . 13 +intronic PTPRO chr12 15679208 15679208 G A het . 32 +intronic PTPRO chr12 15731724 15731724 - G het . 19 +intronic PTPRO chr12 15733052 15733053 AA GG het . 19 +intronic PTPRO chr12 15742314 15742315 AA - het . 9 +intronic EPS8 chr12 15807796 15807796 T C het . 2 +intronic EPS8 chr12 15835980 15835980 C A het . 8 +intergenic EPS8(dist=70867),STRAP(dist=21911) chr12 16013377 16013377 T A het . 4 +UTR3 STRAP(NM_007178:c.*14_*15insT) chr12 16055926 16055926 - T het . 9 +intronic DERA chr12 16124793 16124793 G A het . 2 +intronic DERA chr12 16124948 16124948 C T het . 2 +intronic DERA chr12 16124951 16124951 G C het . 2 +intronic DERA chr12 16127164 16127164 A G het . 2 +intronic DERA chr12 16127181 16127181 G A het . 2 +intronic DERA chr12 16127188 16127188 C T het . 2 +intronic DERA chr12 16127351 16127351 G A het . 2 +exonic SLC15A5 chr12 16347308 16347308 G A het . 19 +exonic SLC15A5 chr12 16347327 16347327 G T het . 25 +intronic SLC15A5 chr12 16376656 16376656 T - het . 3 +intergenic SLC15A5(dist=1263),MGST1(dist=68193) chr12 16431882 16431883 CC TA het . 1 +UTR3 MGST1(NM_001267598:c.*171C>T) chr12 16529269 16529269 C T het . 5 +intergenic MGST1(dist=24989),LMO3(dist=146194) chr12 16555112 16555112 - T het . 25 +intergenic MGST1(dist=39408),LMO3(dist=131775) chr12 16569531 16569531 A G het . 2 +exonic LMO3 chr12 16747075 16747075 C A het . 18 +intronic LMO3 chr12 16752099 16752099 A T het . 1 +intronic LMO3 chr12 16752120 16752120 G A het . 2 +intergenic LMO3(dist=33926),SKP1P2(dist=346607) chr12 16795074 16795074 A T het . 2 +intergenic LINC02378(dist=52540),MIR3974(dist=31681) chr12 17794552 17794552 - T het . 2 +intergenic MIR3974(dist=59210),RERGL(dist=348261) chr12 17885538 17885542 TTATC - het . 2 +intergenic RERGL(dist=122490),PIK3C2G(dist=48857) chr12 18365617 18365617 A G het . 2 +intronic PIK3C2G chr12 18477885 18477885 C A het . 14 +intronic PIK3C2G chr12 18623448 18623448 G A het . 2 +intronic PIK3C2G chr12 18753506 18753506 C A het . 4 +intergenic PIK3C2G(dist=12958),PLCZ1(dist=21800) chr12 18814310 18814310 - G het . 3 +downstream PLCZ1(dist=127) chr12 18835983 18835983 A C het . 6 +intronic PLCZ1 chr12 18849257 18849264 TATATATA - het . 8 +intronic PLCZ1 chr12 18889517 18889517 - AATTTGAG het . 11 +intergenic CAPZA3(dist=152524),PLEKHA5(dist=237980) chr12 19044646 19044646 G T het . 2 +intergenic CAPZA3(dist=204445),PLEKHA5(dist=186059) chr12 19096567 19096567 T A het . 1 +intergenic CAPZA3(dist=373147),PLEKHA5(dist=17357) chr12 19265269 19265269 A G het . 4 +intronic PLEKHA5 chr12 19325899 19325899 T - het . 2 +intronic PLEKHA5 chr12 19406863 19406863 C T het . 24 +exonic PLEKHA5 chr12 19436528 19436528 C A het . 41 +intronic PLEKHA5 chr12 19440359 19440359 A - het . 5 +intronic PLEKHA5 chr12 19449708 19449709 GA AT het . 2 +intronic PLEKHA5 chr12 19467661 19467661 - T het . 25 +intronic PLEKHA5 chr12 19467668 19467668 C A het . 24 +intronic PLEKHA5 chr12 19510361 19510361 A G het . 1 +intronic PLEKHA5 chr12 19513978 19513978 T C het . 2 +intergenic PLEKHA5(dist=37016),AEBP2(dist=26259) chr12 19566349 19566349 C A het . 27 +intronic AEBP2 chr12 19593877 19593877 C A het . 5 +intergenic AEBP2(dist=169376),LINC02398(dist=323070) chr12 19844549 19844549 C G het . 2 +intergenic AEBP2(dist=200954),LINC02398(dist=291492) chr12 19876127 19876127 - A het . 3 +ncRNA_intronic LINC02398 chr12 20180151 20180151 G A het . 3 +ncRNA_intronic LINC02398 chr12 20180905 20180905 G A het . 1 +intergenic LINC02468(dist=38488),PDE3A(dist=202856) chr12 20319323 20319323 C T het . 2 +intergenic LINC02468(dist=56759),PDE3A(dist=184585) chr12 20337594 20337594 A G het . 1 +intronic PDE3A chr12 20767927 20767927 T - het . 2 +intronic PDE3A chr12 20801855 20801855 C T het . 2 +intronic SLCO1C1 chr12 20856353 20856355 TGA - het . 2 +intronic SLCO1C1 chr12 20870034 20870037 TTTT - het . 10 +intronic SLCO1C1 chr12 20874600 20874600 A - het . 2 +intronic SLCO1B3 chr12 20967916 20967917 TT - het . 2 +intronic SLCO1B3 chr12 20997939 20997939 A G het . 2 +intronic SLCO1B3 chr12 21011235 21011235 T C het . 5 +intronic SLCO1B3 chr12 21011296 21011296 A G het . 8 +intronic SLCO1B3 chr12 21011310 21011310 T C het . 11 +intronic SLCO1B3 chr12 21013948 21013948 C T het . 10 +intronic SLCO1B3 chr12 21015243 21015243 C G het . 8 +intronic SLCO1B3 chr12 21032233 21032233 C T het . 4 +intronic SLCO1B3 chr12 21032242 21032242 T G het . 4 +intronic SLCO1B3 chr12 21036683 21036683 A C het . 2 +intronic SLCO1B3 chr12 21039679 21039679 T G het . 1 +intronic SLCO1B3 chr12 21051489 21051489 C T het . 5 +intergenic SLCO1B3(dist=13770),SLCO1B7(dist=85017) chr12 21083613 21083613 C T het . 8 +intergenic SLCO1B3(dist=13775),SLCO1B7(dist=85012) chr12 21083618 21083618 C T het . 8 +intergenic SLCO1B3(dist=13788),SLCO1B7(dist=84996) chr12 21083631 21083634 TTTC - het . 7 +intergenic SLCO1B3(dist=47158),SLCO1B7(dist=51629) chr12 21117001 21117001 G A het . 2 +intronic SLCO1B7 chr12 21184923 21184923 G A het . 2 +intronic SLCO1B7 chr12 21184953 21184953 T G het . 3 +intronic SLCO1B7 chr12 21204811 21204811 T A het . 3 +intronic SLCO1B7 chr12 21207346 21207346 T C het . 5 +intronic SLCO1B7 chr12 21242658 21242658 T A het . 4 +intergenic SLCO1B7(dist=26331),SLCO1B1(dist=14757) chr12 21269371 21269371 A G het . 1 +intronic SLCO1B1 chr12 21294293 21294293 T G het . 5 +intronic SLCO1B1 chr12 21327653 21327654 AA - het . 15 +intronic SLCO1B1 chr12 21329991 21329991 C T het . 3 +intronic SLCO1B1 chr12 21331390 21331395 TACTTG - het . 13 +intronic SLCO1B1 chr12 21331408 21331408 A - het . 12 +intronic SLCO1B1 chr12 21391818 21391818 T C het . 10 +UTR3 SLCO1B1(NM_006446:c.*89C>T) chr12 21392212 21392212 C T het . 10 +intronic SLCO1A2 chr12 21464952 21464952 G A het . 2 +intronic IAPP,SLCO1A2 chr12 21516658 21516658 G A het . 2 +intronic PYROXD1 chr12 21605157 21605157 A C het . 9 +intronic PYROXD1 chr12 21607903 21607903 C T het . 2 +intronic PYROXD1 chr12 21615917 21615917 - AG het . 5 +intronic PYROXD1 chr12 21615935 21615935 A T het . 3 +intronic RECQL chr12 21634067 21634067 T C het . 2 +intronic RECQL chr12 21638252 21638252 G T het . 1 +intronic RECQL chr12 21639386 21639386 A - het . 9 +intronic GOLT1B chr12 21657661 21657664 AAAG - het . 3 +intronic GYS2 chr12 21692167 21692167 A - het . 17 +intronic GYS2 chr12 21715801 21715801 A G het . 10 +intergenic GYS2(dist=29112),LDHB(dist=1383) chr12 21786893 21786893 C T het . 2 +intronic LDHB chr12 21791411 21791412 AA - het . 20 +intronic LDHB chr12 21794865 21794865 A T het . 19 +intronic LDHB chr12 21799588 21799588 G A het . 5 +intergenic LDHB(dist=30487),KCNJ8(dist=76613) chr12 21841276 21841276 T G het . 2 +intergenic LDHB(dist=30507),KCNJ8(dist=76593) chr12 21841296 21841296 G T het . 1 +exonic ABCC9 chr12 21971126 21971126 C T het . 41 +exonic ABCC9 chr12 21998682 21998682 C A het . 36 +exonic ABCC9 chr12 22005422 22005422 G A het . 33 +intronic ABCC9 chr12 22014161 22014161 C A het . 5 +intronic ABCC9 chr12 22014163 22014163 C T het . 5 +intronic ABCC9 chr12 22014165 22014165 C A het . 4 +intronic ABCC9 chr12 22014175 22014175 T A het . 3 +intronic ABCC9 chr12 22063252 22063253 AA - het . 16 +intronic ABCC9 chr12 22065699 22065699 - A het . 6 +intergenic ABCC9(dist=13166),CMAS(dist=96314) chr12 22102794 22102794 - A het . 2 +ncRNA_intronic LOC105369691 chr12 22745658 22745658 G C het . 2 +intergenic ETNK1(dist=389592),LOC101928441(dist=95370) chr12 23233200 23233200 T C het . 2 +intergenic ETNK1(dist=421309),LOC101928441(dist=63653) chr12 23264917 23264917 - TTTT het . 3 +intergenic ETNK1(dist=447574),LOC101928441(dist=37388) chr12 23291182 23291182 T G het . 2 +intergenic ETNK1(dist=447578),LOC101928441(dist=37384) chr12 23291186 23291186 C A het . 2 +intronic SOX5 chr12 23737566 23737566 G A het . 3 +intronic SOX5 chr12 23779061 23779061 G A het . 2 +intronic SOX5 chr12 23987199 23987199 C A het . 3 +exonic SOX5 chr12 24048832 24048832 A G het . 23 +intronic SOX5 chr12 24103785 24103786 AG - het . 14 +intronic SOX5 chr12 24109618 24109618 - TT het . 2 +intronic SOX5 chr12 24366058 24366058 G T het . 2 +intronic SOX5 chr12 24410411 24410411 - T het . 2 +intronic SOX5 chr12 24480314 24480314 G T het . 2 +intergenic LINC00477(dist=65150),BCAT1(dist=160703) chr12 24802252 24802255 TTCA - het . 1 +intergenic LINC00477(dist=65191),BCAT1(dist=160665) chr12 24802293 24802293 A T het . 2 +intergenic LINC00477(dist=74566),BCAT1(dist=151290) chr12 24811668 24811668 A G het . 3 +intergenic LINC00477(dist=215669),BCAT1(dist=10187) chr12 24952771 24952771 T - het . 3 +intronic BCAT1 chr12 24982707 24982707 A - het . 11 +intronic BCAT1 chr12 24982721 24982721 A G het . 12 +intronic BCAT1 chr12 24982726 24982726 G A het . 12 +intronic BCAT1 chr12 24983715 24983715 C A het . 2 +intronic BCAT1 chr12 25085056 25085056 C A het . 2 +intergenic BCAT1(dist=15857),C12orf77(dist=28115) chr12 25118250 25118250 T G het . 2 +intronic LRMP chr12 25249743 25249743 T C het . 3 +exonic CASC1 chr12 25261735 25261735 G T het . 10 +intronic CASC1 chr12 25286367 25286367 G A het . 1 +exonic CASC1 chr12 25297346 25297347 CC AA het . 16 +intronic KRAS chr12 25371855 25371855 - G het . 2 +intergenic KRAS(dist=9207),LMNTD1(dist=215944) chr12 25413072 25413072 T C het . 1 +intergenic KRAS(dist=158538),LMNTD1(dist=66613) chr12 25562403 25562403 A C het . 10 +intergenic KRAS(dist=158569),LMNTD1(dist=66582) chr12 25562434 25562434 A T het . 6 +intergenic KRAS(dist=179079),LMNTD1(dist=46072) chr12 25582944 25582944 G A het . 3 +intronic LMNTD1 chr12 25797288 25797288 A G het . 2 +intergenic LMNTD1(dist=55425),MIR4302(dist=170032) chr12 25856921 25856921 C T het . 2 +intergenic LMNTD1(dist=81597),MIR4302(dist=143860) chr12 25883093 25883093 T A het . 1 +intergenic LMNTD1(dist=154762),MIR4302(dist=70695) chr12 25956258 25956258 C T het . 13 +intergenic LMNTD1(dist=155455),MIR4302(dist=70002) chr12 25956951 25956951 G A het . 17 +intergenic LMNTD1(dist=155466),MIR4302(dist=69991) chr12 25956962 25956962 T A het . 18 +intergenic LMNTD1(dist=155802),MIR4302(dist=69654) chr12 25957298 25957299 CA TG het . 16 +intergenic LMNTD1(dist=155833),MIR4302(dist=69624) chr12 25957329 25957329 C G het . 13 +intergenic LMNTD1(dist=217056),MIR4302(dist=8401) chr12 26018552 26018552 C - het . 2 +intergenic MIR4302(dist=65573),RASSF8-AS1(dist=15003) chr12 26092585 26092585 G C het . 2 +intronic RASSF8 chr12 26139851 26139854 TTTT - het . 2 +intronic BHLHE41 chr12 26277348 26277348 C T het . 14 +intergenic SSPN(dist=18373),ITPR2(dist=82189) chr12 26406081 26406081 A G het . 4 +intergenic SSPN(dist=24490),ITPR2(dist=76072) chr12 26412198 26412198 C A het . 2 +intergenic SSPN(dist=87845),ITPR2(dist=12717) chr12 26475553 26475553 G A het . 1 +intronic ITPR2 chr12 26544489 26544489 C T het . 3 +intronic ITPR2 chr12 26568212 26568212 C A het . 6 +intronic ITPR2 chr12 26583100 26583100 C A het . 1 +intronic ITPR2 chr12 26648368 26648368 A G het . 2 +intronic ITPR2 chr12 26755486 26755486 T C het . 18 +intronic ITPR2 chr12 26755490 26755490 A T het . 17 +intronic ITPR2 chr12 26816496 26816496 T C het . 2 +intronic ITPR2 chr12 26834804 26834804 - ACTC het . 19 +intronic ITPR2 chr12 26839602 26839602 G T het . 9 +intronic ITPR2 chr12 26942863 26942863 C T het . 8 +intronic INTS13 chr12 27060553 27060553 T A het . 2 +intronic INTS13 chr12 27060582 27060582 C G het . 2 +intronic INTS13 chr12 27081633 27081633 C A het . 13 +intergenic MED21(dist=15574),C12orf71(dist=34810) chr12 27199180 27199180 G A het . 2 +intergenic C12orf71(dist=40946),STK38L(dist=120677) chr12 27276401 27276401 A - het . 7 +intergenic C12orf71(dist=52689),STK38L(dist=108934) chr12 27288144 27288144 A - het . 4 +exonic STK38L chr12 27450768 27450768 C A het . 19 +intronic PPFIBP1 chr12 27786415 27786415 A G het . 7 +intronic PPFIBP1 chr12 27799366 27799366 G A het . 6 +intronic PPFIBP1 chr12 27813754 27813754 A G het . 7 +intronic PPFIBP1 chr12 27820302 27820302 C T het . 6 +intronic MRPS35 chr12 27872605 27872605 - A het . 11 +intronic MRPS35 chr12 27877136 27877136 T - het . 4 +intronic MRPS35 chr12 27908019 27908019 - A het . 8 +intergenic PTHLH(dist=22161),LOC729291(dist=191481) chr12 28147077 28147077 G A het . 2 +intergenic PTHLH(dist=22165),LOC729291(dist=191477) chr12 28147081 28147081 T C het . 1 +intergenic PTHLH(dist=211745),LOC729291(dist=1897) chr12 28336661 28336661 C T het . 16 +intronic CCDC91 chr12 28444922 28444922 C T het . 5 +intergenic CCDC91(dist=17388),FAR2(dist=581446) chr12 28720487 28720490 CTCA - het . 2 +intergenic CCDC91(dist=53846),FAR2(dist=544991) chr12 28756945 28756945 A C het . 1 +intergenic CCDC91(dist=53883),FAR2(dist=544954) chr12 28756982 28756982 T C het . 2 +intergenic CCDC91(dist=93953),FAR2(dist=504884) chr12 28797052 28797052 A C het . 2 +intergenic CCDC91(dist=594463),FAR2(dist=4374) chr12 29297562 29297562 G A het . 1 +intronic FAR2 chr12 29349466 29349466 G A het . 2 +ncRNA_intronic LOC100506606 chr12 29464628 29464628 T C het . 5 +UTR3 FAR2(NM_001271783:c.*18T>C,NM_018099:c.*18T>C,NM_001271784:c.*18T>C) chr12 29486745 29486745 T C het . 7 +UTR3 ERGIC2(NM_016570:c.*416G>T) chr12 29493673 29493673 C A het . 19 +intronic ERGIC2 chr12 29519966 29519966 G C het . 8 +intronic ERGIC2 chr12 29519979 29519979 G C het . 7 +intronic ERGIC2 chr12 29519980 29519980 - A het . 6 +ncRNA_intronic OVCH1-AS1 chr12 29607931 29607931 T C het . 7 +intronic TMTC1 chr12 29736530 29736530 C T het . 2 +intronic TMTC1 chr12 29810523 29810523 - AT het . 2 +intergenic TMTC1(dist=261585),IPO8(dist=582638) chr12 30199277 30199277 A C het . 3 +intergenic TMTC1(dist=261592),IPO8(dist=582631) chr12 30199284 30199284 G - het . 3 +intergenic TMTC1(dist=289911),IPO8(dist=554312) chr12 30227603 30227603 A G het . 1 +intergenic TMTC1(dist=291117),IPO8(dist=553106) chr12 30228809 30228809 G A het . 2 +intergenic TMTC1(dist=383114),IPO8(dist=461109) chr12 30320806 30320806 T C het . 1 +intergenic TMTC1(dist=383116),IPO8(dist=461107) chr12 30320808 30320808 T G het . 2 +intergenic TMTC1(dist=383129),IPO8(dist=461094) chr12 30320821 30320821 C T het . 2 +intergenic TMTC1(dist=462657),IPO8(dist=381565) chr12 30400349 30400350 TT - het . 2 +intergenic TMTC1(dist=462668),IPO8(dist=381555) chr12 30400360 30400360 T C het . 2 +intronic IPO8 chr12 30819077 30819077 C A het . 3 +intronic IPO8 chr12 30822240 30822240 C A het . 5 +intronic IPO8 chr12 30833808 30833808 C T het . 2 +intergenic LINC00941(dist=7999),TSPAN11(dist=116194) chr12 30963644 30963644 C A het . 3 +intergenic LINC00941(dist=104052),TSPAN11(dist=20141) chr12 31059697 31059697 A G het . 1 +intronic TSPAN11 chr12 31091928 31091928 A G het . 2 +exonic TSPAN11 chr12 31136016 31136016 G A het . 17 +intronic DDX11 chr12 31231604 31231604 T C het . 6 +intronic DDX11 chr12 31231624 31231624 T - het . 2 +intronic DDX11 chr12 31242314 31242314 T C het . 19 +splicing DDX11(NM_004399:exon12:c.1369+2T>G,NM_152438:exon12:c.1369+2T>G,NM_001257145:exon12:c.1291+2T>G,NM_001257144:exon12:c.1369+2T>G,NM_030653:exon12:c.1369+2T>G) chr12 31246260 31246260 T G het . 23 +ncRNA_intronic OVOS2 chr12 31285169 31285169 A T het . 2 +ncRNA_intronic OVOS2 chr12 31322022 31322022 A - het . 2 +intergenic OVOS2(dist=49710),SINHCAF(dist=29641) chr12 31403879 31403879 C T het . 3 +intergenic OVOS2(dist=50674),SINHCAF(dist=28677) chr12 31404843 31404843 T A het . 10 +intergenic OVOS2(dist=50687),SINHCAF(dist=28664) chr12 31404856 31404856 - TTTT het . 11 +intergenic OVOS2(dist=50693),SINHCAF(dist=28658) chr12 31404862 31404862 T C het . 12 +intergenic OVOS2(dist=50701),SINHCAF(dist=28650) chr12 31404870 31404870 T A het . 11 +intergenic OVOS2(dist=53825),SINHCAF(dist=25526) chr12 31407994 31407994 G T het . 1 +intergenic OVOS2(dist=53834),SINHCAF(dist=25517) chr12 31408003 31408003 A C het . 2 +intronic SINHCAF chr12 31465031 31465031 G T het . 15 +intronic SINHCAF chr12 31477023 31477023 C A het . 30 +intergenic LINC02387(dist=5527),DENND5B(dist=7395) chr12 31527762 31527762 C G het . 1 +intronic DENND5B chr12 31566255 31566255 C A het . 3 +intergenic H3F3C(dist=69624),LINC02422(dist=15104) chr12 32014799 32014799 A T het . 2 +intergenic LINC02422(dist=6406),KIAA1551(dist=65810) chr12 32046543 32046543 A - het . 6 +intergenic LINC02422(dist=37496),KIAA1551(dist=34720) chr12 32077633 32077633 T C het . 2 +intergenic KIAA1551(dist=36278),BICD1(dist=77420) chr12 32182321 32182321 A G het . 1 +intergenic KIAA1551(dist=36283),BICD1(dist=77415) chr12 32182326 32182326 G A het . 1 +intergenic KIAA1551(dist=49548),BICD1(dist=64149) chr12 32195591 32195592 CA TG het . 2 +intergenic KIAA1551(dist=49560),BICD1(dist=64138) chr12 32195603 32195603 G T het . 2 +intergenic KIAA1551(dist=61751),BICD1(dist=51947) chr12 32207794 32207794 G A het . 2 +intergenic KIAA1551(dist=76673),BICD1(dist=37025) chr12 32222716 32222716 C T het . 3 +intronic BICD1 chr12 32351480 32351480 - TTTTT het . 1 +intronic BICD1 chr12 32421457 32421457 C T het . 2 +intronic BICD1 chr12 32446901 32446901 T C het . 6 +intronic BICD1 chr12 32452634 32452634 C A het . 3 +intronic BICD1 chr12 32490849 32490850 GC AG het . 2 +intronic BICD1 chr12 32500586 32500586 G - het . 2 +intergenic BICD1(dist=18068),FGD4(dist=84271) chr12 32554635 32554635 A G het . 2 +intergenic BICD1(dist=69520),FGD4(dist=32819) chr12 32606087 32606087 G A het . 2 +intronic FGD4 chr12 32659750 32659750 G T het . 2 +intronic FGD4 chr12 32683871 32683871 T C het . 1 +intronic FGD4 chr12 32755058 32755058 T A het . 19 +exonic FGD4 chr12 32760995 32760995 G C het . 34 +intronic FGD4 chr12 32777417 32777417 T - het . 19 +intergenic FGD4(dist=24969),DNM1L(dist=8181) chr12 32823953 32823953 G A het . 1 +intronic DNM1L chr12 32854602 32854602 G A het . 24 +intronic DNM1L chr12 32880096 32880096 C A het . 44 +intergenic YARS2(dist=28291),PKP2(dist=6502) chr12 32937178 32937178 T C het . 2 +intergenic YARS2(dist=28460),PKP2(dist=6333) chr12 32937347 32937347 A G het . 3 +intergenic YARS2(dist=28496),PKP2(dist=6297) chr12 32937383 32937383 A - het . 1 +intergenic YARS2(dist=28497),PKP2(dist=6296) chr12 32937384 32937384 G C het . 1 +intergenic YARS2(dist=28517),PKP2(dist=6276) chr12 32937404 32937404 T G het . 1 +exonic PKP2 chr12 32955432 32955432 C T het . 42 +intronic PKP2 chr12 33003500 33003500 A - het . 3 +intronic PKP2 chr12 33031799 33031799 A G het . 9 +intergenic PKP2(dist=89675),SYT10(dist=388893) chr12 33139455 33139455 G A het . 18 +intergenic PKP2(dist=134810),SYT10(dist=343758) chr12 33184590 33184590 A G het . 4 +intergenic PKP2(dist=444281),SYT10(dist=34287) chr12 33494061 33494061 C T het . 2 +intergenic PKP2(dist=475055),SYT10(dist=3513) chr12 33524835 33524835 G T het . 2 +intronic SYT10 chr12 33576921 33576923 TTC - het . 31 +intergenic SYT10(dist=15079),ALG10(dist=567383) chr12 33607833 33607833 C T het . 21 +intergenic SYT10(dist=164257),ALG10(dist=418205) chr12 33757011 33757011 G T het . 2 +intergenic SYT10(dist=166715),ALG10(dist=415747) chr12 33759469 33759469 - CAG het . 4 +intergenic SYT10(dist=390378),ALG10(dist=192084) chr12 33983132 33983132 G A het . 2 +intergenic SYT10(dist=498784),ALG10(dist=83678) chr12 34091538 34091538 T C het . 2 +intergenic SYT10(dist=520741),ALG10(dist=61721) chr12 34113495 34113495 G A het . 2 +intergenic ALG10(dist=138073),NONE(dist=NONE) chr12 34319309 34319309 A G het . 5 +intergenic ALG10(dist=138102),NONE(dist=NONE) chr12 34319338 34319338 T C het . 4 +intergenic ALG10(dist=181314),NONE(dist=NONE) chr12 34362550 34362550 T C het . 15 +intergenic ALG10(dist=185214),NONE(dist=NONE) chr12 34366450 34366450 A T het . 1 +intergenic ALG10(dist=359401),NONE(dist=NONE) chr12 34540637 34540637 C T het . 2 +intergenic ALG10(dist=359416),NONE(dist=NONE) chr12 34540652 34540652 A C het . 1 +intergenic ALG10(dist=658775),NONE(dist=NONE) chr12 34840011 34840011 T C het . 2 +intergenic NONE(dist=NONE),ALG10B(dist=740772) chr12 37969785 37969785 C T het . 3 +intergenic NONE(dist=NONE),ALG10B(dist=694153) chr12 38016404 38016404 G T het . 4 +intergenic NONE(dist=NONE),ALG10B(dist=694146) chr12 38016411 38016411 T C het . 5 +intergenic NONE(dist=NONE),ALG10B(dist=694145) chr12 38016412 38016412 T G het . 5 +intergenic NONE(dist=NONE),ALG10B(dist=694135) chr12 38016422 38016422 G T het . 4 +intergenic NONE(dist=NONE),ALG10B(dist=694127) chr12 38016430 38016430 T A het . 4 +intergenic NONE(dist=NONE),ALG10B(dist=694124) chr12 38016433 38016433 G A het . 4 +intergenic NONE(dist=NONE),ALG10B(dist=694121) chr12 38016436 38016436 A C het . 4 +intergenic NONE(dist=NONE),ALG10B(dist=660663) chr12 38049894 38049894 T G het . 3 +intergenic NONE(dist=NONE),ALG10B(dist=645564) chr12 38064993 38064993 T A het . 2 +intergenic NONE(dist=NONE),ALG10B(dist=287566) chr12 38422991 38422991 G T het . 9 +intergenic NONE(dist=NONE),ALG10B(dist=212169) chr12 38498388 38498388 - T het . 3 +intergenic NONE(dist=NONE),ALG10B(dist=204844) chr12 38505713 38505713 A G het . 2 +intergenic NONE(dist=NONE),ALG10B(dist=200520) chr12 38510037 38510037 C T het . 3 +intergenic NONE(dist=NONE),ALG10B(dist=200513) chr12 38510044 38510044 A C het . 3 +intergenic NONE(dist=NONE),ALG10B(dist=174796) chr12 38535761 38535761 T C het . 2 +intergenic NONE(dist=NONE),ALG10B(dist=174690) chr12 38535867 38535867 G A het . 7 +intergenic NONE(dist=NONE),ALG10B(dist=149448) chr12 38561109 38561109 - T het . 2 +intergenic NONE(dist=NONE),ALG10B(dist=93976) chr12 38616581 38616581 G T het . 2 +intergenic ALG10B(dist=234398),CPNE8(dist=88076) chr12 38957926 38957926 G T het . 2 +intergenic ALG10B(dist=270534),CPNE8(dist=51940) chr12 38994062 38994062 T G het . 5 +intronic CPNE8 chr12 39079248 39079248 G A het . 3 +intronic CPNE8 chr12 39118428 39118428 T - het . 4 +exonic CPNE8 chr12 39124094 39124094 G A het . 26 +intronic CPNE8 chr12 39124173 39124173 - A het . 26 +intronic CPNE8 chr12 39233834 39233834 C A het . 15 +intronic CPNE8 chr12 39242498 39242498 C T het . 12 +intronic CPNE8 chr12 39264960 39264960 T C het . 2 +exonic CPNE8 chr12 39299265 39299265 C G het . 18 +intergenic CPNE8(dist=39501),KIF21A(dist=348109) chr12 39338921 39338921 C A het . 1 +intergenic CPNE8(dist=199632),KIF21A(dist=187978) chr12 39499052 39499052 T C het . 1 +intergenic CPNE8(dist=265760),KIF21A(dist=121850) chr12 39565180 39565180 G A het . 2 +intronic KIF21A chr12 39705166 39705166 - T het . 13 +intronic KIF21A chr12 39752248 39752248 C A het . 19 +intronic C12orf40 chr12 40052253 40052253 C T het . 2 +intronic C12orf40 chr12 40053064 40053064 A C het . 2 +intronic C12orf40 chr12 40075649 40075649 G T het . 2 +intronic SLC2A13 chr12 40161907 40161907 C T het . 4 +intronic SLC2A13 chr12 40176439 40176439 C T het . 2 +ncRNA_intronic LINC02471 chr12 40559700 40559700 T C het . 6 +exonic LRRK2 chr12 40634405 40634405 C A het . 44 +intronic LRRK2 chr12 40702846 40702846 A T het . 8 +exonic LRRK2 chr12 40713834 40713834 C A het . 29 +intronic LRRK2 chr12 40722452 40722452 A G het . 8 +intronic LRRK2 chr12 40722457 40722457 G A het . 6 +intronic LRRK2 chr12 40740829 40740829 T - het . 13 +intronic LRRK2 chr12 40740835 40740835 T G het . 13 +intronic LRRK2 chr12 40742005 40742005 T C het . 4 +intronic LRRK2 chr12 40742876 40742876 A T het . 2 +intronic MUC19 chr12 40812764 40812764 A G het . 2 +intronic MUC19 chr12 40821736 40821736 A G het . 7 +intronic MUC19 chr12 40919867 40919867 T C het . 1 +intronic MUC19 chr12 40931407 40931407 C A het . 13 +intronic MUC19 chr12 40940827 40940827 G A het . 2 +intronic MUC19 chr12 40954132 40954132 - A het . 3 +exonic CNTN1 chr12 41302284 41302284 C A het . 25 +intronic CNTN1 chr12 41312365 41312365 A T het . 14 +exonic CNTN1 chr12 41323613 41323613 G A het . 43 +UTR3 CNTN1(NM_001843:c.*166G>A,NM_175038:c.*166G>A) chr12 41464003 41464003 G A het . 2 +intronic PDZRN4 chr12 41715937 41715937 T G het . 3 +intronic PDZRN4 chr12 41747042 41747042 T C het . 1 +intronic PDZRN4 chr12 41881054 41881054 T - het . 2 +intronic PDZRN4 chr12 41931625 41931625 C A het . 1 +intronic PDZRN4 chr12 41949688 41949688 - A het . 6 +exonic PDZRN4 chr12 41966333 41966333 C A het . 19 +intergenic PDZRN4(dist=7017),LINC02400(dist=182582) chr12 41975409 41975409 T C het . 1 +intergenic PDZRN4(dist=125937),LINC02400(dist=63662) chr12 42094329 42094329 G A het . 2 +intergenic LINC02400(dist=33880),GXYLT1(dist=282385) chr12 42193263 42193263 T A het . 2 +intergenic LINC02400(dist=254112),GXYLT1(dist=62153) chr12 42413495 42413495 A C het . 4 +exonic GXYLT1 chr12 42481609 42481609 G A het . 18 +exonic GXYLT1 chr12 42481617 42481617 G C het . 17 +exonic GXYLT1 chr12 42481627 42481627 A G het . 17 +intronic GXYLT1 chr12 42486602 42486602 C T het . 3 +intergenic YAF2(dist=31935),ZCRB1(dist=41783) chr12 42664105 42664105 C T het . 2 +intergenic YAF2(dist=31951),ZCRB1(dist=41767) chr12 42664121 42664121 A G het . 3 +intronic ZCRB1 chr12 42717725 42717725 A - het . 7 +intronic ZCRB1 chr12 42717961 42717961 G T het . 6 +intronic PPHLN1 chr12 42726620 42726620 T C het . 4 +intronic PPHLN1 chr12 42737635 42737635 T C het . 11 +intronic PPHLN1 chr12 42737665 42737665 G A het . 11 +intronic PPHLN1 chr12 42781178 42781178 A T het . 7 +exonic PPHLN1 chr12 42839882 42839882 G C het . 20 +exonic PPHLN1 chr12 42839893 42839893 A C het . 23 +exonic PRICKLE1 chr12 42853940 42853940 C A het . 26 +exonic PRICKLE1 chr12 42854205 42854205 A G het . 22 +exonic PRICKLE1 chr12 42854208 42854208 A G het . 23 +intronic PRICKLE1 chr12 42858029 42858029 C G het . 6 +intronic PRICKLE1 chr12 42867798 42867798 G A het . 3 +intronic PRICKLE1 chr12 42962714 42962714 A T het . 1 +ncRNA_intronic LINC02450 chr12 43098359 43098359 A G het . 2 +intergenic LINC02450(dist=183195),LINC02461(dist=255002) chr12 43294116 43294116 A T het . 1 +intergenic LINC02461(dist=187921),ADAMTS20(dist=2835) chr12 43744834 43744834 A G het . 3 +intronic ADAMTS20 chr12 43858249 43858249 C T het . 5 +intronic ADAMTS20 chr12 43860295 43860295 A C het . 14 +intergenic ADAMTS20(dist=9231),PUS7L(dist=167405) chr12 43955005 43955005 C T het . 4 +intergenic ADAMTS20(dist=11282),PUS7L(dist=165354) chr12 43957056 43957056 C G het . 1 +intergenic ADAMTS20(dist=11290),PUS7L(dist=165346) chr12 43957064 43957064 G T het . 2 +intergenic ADAMTS20(dist=11335),PUS7L(dist=165301) chr12 43957109 43957109 A T het . 2 +intergenic ADAMTS20(dist=65207),PUS7L(dist=111429) chr12 44010981 44010981 C T het . 2 +intronic TWF1 chr12 44197958 44197958 T - het . 13 +intronic TMEM117 chr12 44262606 44262606 T C het . 2 +intronic TMEM117 chr12 44295117 44295117 G T het . 2 +intronic TMEM117 chr12 44562056 44562057 AA - het . 2 +intronic NELL2 chr12 45173620 45173620 C A het . 20 +intergenic NELL2(dist=72838),DBX2(dist=27990) chr12 45380549 45380549 A T het . 1 +intronic DBX2 chr12 45410728 45410728 G A het . 3 +intronic DBX2 chr12 45444238 45444238 T A het . 2 +intronic DBX2 chr12 45444264 45444264 G C het . 3 +intergenic RACGAP1P(dist=102130),PLEKHA8P1(dist=5493) chr12 45561324 45561324 G A het . 2 +intronic ANO6 chr12 45644848 45644848 A - het . 3 +intronic ANO6 chr12 45771902 45771903 TT - het . 6 +intronic ANO6 chr12 45784521 45784521 - T het . 3 +intergenic ANO6(dist=2909),LINC00938(dist=282405) chr12 45837096 45837098 ATC - het . 2 +intronic ARID2 chr12 46211396 46211396 T C het . 6 +intronic ARID2 chr12 46268115 46268115 A - het . 3 +intronic SCAF11 chr12 46339206 46339206 T C het . 9 +intronic SLC38A1 chr12 46591337 46591337 G A het . 4 +exonic SLC38A1 chr12 46598200 46598200 C A het . 23 +intronic SLC38A2 chr12 46758406 46758406 - A het . 17 +intronic SLC38A4 chr12 47163306 47163306 C T het . 3 +intronic SLC38A4 chr12 47214292 47214292 T C het . 2 +intronic PCED1B chr12 47611242 47611245 AAAG - het . 3 +intergenic PCED1B(dist=63051),LOC105369747(dist=6201) chr12 47693497 47693499 AAG - het . 2 +intergenic MIR4494(dist=37041),LINC02156(dist=13698) chr12 47795093 47795093 A C het . 2 +intergenic LINC02156(dist=16548),RPAP3(dist=225205) chr12 47830510 47830510 A G het . 2 +intergenic LINC02156(dist=18186),RPAP3(dist=223567) chr12 47832148 47832148 - AG het . 2 +exonic RPAP3 chr12 48064104 48064104 C A het . 8 +intergenic ENDOU(dist=7660),RAPGEF3(dist=1438) chr12 48127015 48127015 G A het . 2 +intronic RAPGEF3 chr12 48132451 48132451 T C het . 7 +intronic RAPGEF3 chr12 48143095 48143095 - CTCTGGT het . 8 +intronic RAPGEF3 chr12 48143360 48143360 T C het . 4 +intronic RAPGEF3 chr12 48144243 48144243 A C het . 3 +UTR3 SLC48A1(NM_017842:c.*288_*290delTTT) chr12 48174352 48174354 TTT - het . 9 +intronic VDR chr12 48251533 48251533 C T het . 3 +intergenic VDR(dist=20036),TMEM106C(dist=38480) chr12 48318850 48318850 - GAG het . 1 +exonic COL2A1 chr12 48369753 48369753 C A het . 31 +intronic COL2A1 chr12 48379669 48379669 A C het . 18 +intronic COL2A1 chr12 48379961 48379961 A C het . 6 +intronic COL2A1 chr12 48379964 48379964 A G het . 6 +intronic COL2A1 chr12 48396211 48396211 G A het . 2 +intergenic COL2A1(dist=3617),SENP1(dist=34762) chr12 48401902 48401919 GAGAGAAAGAAAGAAAGG - het . 2 +intronic SENP1 chr12 48440242 48440242 A C het . 12 +intronic PFKM chr12 48527967 48527967 C A het . 14 +exonic ADCY6 chr12 49168279 49168279 C T het . 15 +intronic ADCY6 chr12 49168848 49168848 G C het . 8 +intronic DDX23 chr12 49234001 49234001 C A het . 16 +intronic FKBP11 chr12 49319036 49319036 A C het . 4 +exonic ARF3 chr12 49334762 49334762 G C het . 2 +intronic WNT10B chr12 49362779 49362779 T G het . 6 +exonic KMT2D chr12 49427652 49427652 C T het . 10 +intergenic TUBA1B(dist=12386),TUBA1A(dist=40888) chr12 49537690 49537690 A - het . 2 +intronic TUBA1C chr12 49639246 49639246 C A het . 3 +UTR3 TUBA1C(NM_001303114:c.*93A>T,NM_001303117:c.*93A>T,NM_001303116:c.*93A>T,NM_001303115:c.*93A>T,NM_032704:c.*93A>T) chr12 49667103 49667103 A T het . 6 +exonic TROAP chr12 49723748 49723748 C A het . 13 +intronic FMNL3 chr12 50043429 50043429 T G het . 5 +intronic FMNL3 chr12 50087419 50087419 G T het . 2 +ncRNA_intronic LINC02395 chr12 50315327 50315327 - AAAG het . 2 +ncRNA_intronic LOC101927318 chr12 50356175 50356177 GGG - het . 2 +intergenic RACGAP1(dist=19732),ASIC1(dist=12348) chr12 50439072 50439072 C G het . 2 +intronic ASIC1 chr12 50457905 50457905 G A het . 1 +intronic CERS5 chr12 50535710 50535710 A G het . 2 +UTR5 CERS5(NM_001281731:c.-51T>C,NM_001331069:c.-51T>C) chr12 50538625 50538625 A G het . 10 +ncRNA_exonic MIR1293 chr12 50627995 50627995 T - het . 6 +intergenic LIMA1(dist=26197),FAM186A(dist=17542) chr12 50703550 50703550 - TCTC het . 2 +exonic FAM186A chr12 50744171 50744171 T C het . 4 +intronic FAM186A chr12 50754461 50754461 - A het . 7 +intronic FAM186A chr12 50759911 50759911 A - het . 11 +intronic FAM186A chr12 50759923 50759923 A G het . 12 +intronic LARP4 chr12 50829263 50829263 - TATTC het . 26 +UTR3 LARP4(NM_001170804:c.*61A>G,NM_001352324:c.*61A>G,NM_001352304:c.*61A>G) chr12 50855195 50855195 A G het . 6 +intronic LARP4 chr12 50864004 50864005 AA - het . 2 +intronic DIP2B chr12 51028987 51028987 G C het . 2 +exonic DIP2B chr12 51090932 51090932 T G het . 9 +intronic ATF1 chr12 51160612 51160612 A C het . 2 +intronic ATF1 chr12 51203227 51203227 T - het . 10 +intergenic TMPRSS12(dist=26771),METTL7A(dist=10100) chr12 51308434 51308434 C T het . 2 +intergenic METTL7A(dist=10191),HIGD1C(dist=9836) chr12 51336491 51336491 T C het . 4 +intronic SLC11A2 chr12 51386527 51386527 A G het . 4 +intronic SLC11A2 chr12 51386548 51386548 A G het . 7 +exonic SLC11A2 chr12 51402309 51402309 C A het . 36 +intronic SLC11A2 chr12 51403870 51403870 G A het . 2 +intronic SLC11A2 chr12 51403891 51403891 G A het . 2 +intronic SLC11A2 chr12 51403899 51403899 G A het . 2 +intronic SLC11A2 chr12 51403903 51403903 G A het . 2 +intronic SLC11A2 chr12 51404467 51404467 C T het . 18 +exonic SLC11A2 chr12 51404491 51404491 C T het . 20 +UTR3 LETMD1(NM_001351337:c.*722G>A) chr12 51461793 51461793 G A het . 7 +intronic TFCP2 chr12 51502791 51502791 C T het . 3 +intronic TFCP2 chr12 51504895 51504895 T - het . 5 +intronic TFCP2 chr12 51514000 51514000 C A het . 3 +intronic TFCP2 chr12 51547182 51547183 TT - het . 2 +intronic SMAGP chr12 51650525 51650525 - AA het . 6 +intergenic SMAGP(dist=6927),BIN2(dist=3693) chr12 51671129 51671129 G A het . 3 +intronic BIN2 chr12 51693632 51693632 - T het . 4 +intronic CELA1 chr12 51740388 51740388 C A het . 9 +exonic GALNT6 chr12 51773441 51773441 C A het . 33 +intronic SLC4A8 chr12 51793781 51793781 A C het . 1 +intronic SLC4A8 chr12 51867811 51867811 - AAAC het . 4 +intronic SLC4A8 chr12 51873754 51873757 TTTT - het . 4 +exonic SLC4A8 chr12 51882644 51882644 G A het . 6 +UTR3 SLC4A8(NM_001258401:c.*5127C>A,NM_001039960:c.*5127C>A) chr12 51906349 51906349 C A het . 1 +intronic SCN8A chr12 52033078 52033078 C A het . 4 +intronic SCN8A chr12 52052212 52052212 A G het . 2 +intronic SCN8A chr12 52097690 52097690 T - het . 2 +exonic SCN8A chr12 52159593 52159593 C A het . 20 +intronic SCN8A chr12 52166180 52166181 AA - het . 2 +intergenic LOC105369971(dist=29648),ANKRD33(dist=5632) chr12 52276161 52276161 A C het . 2 +intronic NR4A1 chr12 52451815 52451816 CC TT het . 4 +exonic KRT80 chr12 52565322 52565322 G T het . 3 +exonic KRT80 chr12 52585586 52585586 C A het . 9 +intronic KRT7 chr12 52637842 52637842 C A het . 2 +ncRNA_exonic KRT87P chr12 52644412 52644412 A G het . 6 +intronic KRT83 chr12 52710897 52710898 TG CA het . 4 +intronic KRT83 chr12 52711624 52711624 C T het . 22 +exonic KRT85 chr12 52758925 52758925 C A het . 38 +intronic KRT6A chr12 52882410 52882410 - GAA het . 12 +intronic KRT5 chr12 52910768 52910768 C A het . 15 +exonic KRT5 chr12 52910937 52910937 C A het . 36 +intronic KRT71 chr12 52939408 52939410 GAG - het . 5 +exonic KRT1 chr12 53069223 53069243 ACCTCCGGAGCCGTAGCTGCT - het . 30 +intronic KRT1 chr12 53069805 53069805 G C het . 4 +exonic KRT77 chr12 53091651 53091651 C A het . 26 +intergenic KRT77(dist=27039),KRT76(dist=37653) chr12 53124286 53124286 T G het . 23 +intergenic KRT77(dist=28116),KRT76(dist=36576) chr12 53125363 53125363 C T het . 34 +intergenic KRT77(dist=28135),KRT76(dist=36555) chr12 53125382 53125384 CTC - het . 30 +exonic KRT76 chr12 53162528 53162528 G A het . 7 +exonic KRT76 chr12 53162564 53162564 C A het . 10 +exonic KRT76 chr12 53162773 53162773 A G het . 11 +intronic KRT76 chr12 53167313 53167313 T C het . 9 +intronic KRT4 chr12 53204757 53204757 T C het . 8 +exonic KRT4 chr12 53207628 53207628 G A het . 21 +exonic KRT79 chr12 53227790 53227790 C A het . 7 +intergenic KRT78(dist=37407),KRT8(dist=10786) chr12 53280185 53280185 - T het . 7 +intergenic KRT78(dist=37443),KRT8(dist=10750) chr12 53280221 53280221 C T het . 6 +intergenic KRT18(dist=16330),EIF4B(dist=37027) chr12 53363015 53363015 A C het . 1 +intronic EIF4B chr12 53416251 53416251 C T het . 8 +intronic TNS2 chr12 53451952 53451952 C T het . 2 +exonic SOAT2 chr12 53509933 53509933 C T het . 7 +intronic CSAD chr12 53573499 53573499 - T het . 4 +intronic ITGB7 chr12 53586066 53586066 A C het . 9 +intronic ITGB7 chr12 53591996 53591996 C T het . 3 +intronic ESPL1 chr12 53664134 53664134 C A het . 9 +exonic ESPL1 chr12 53682043 53682043 C T het . 7 +intronic PFDN5 chr12 53691944 53691944 T C het . 25 +intronic PFDN5 chr12 53691962 53691962 C A het . 20 +exonic C12orf10 chr12 53693532 53693533 AA GC het . 4 +intronic C12orf10 chr12 53700377 53700377 C A het . 2 +intronic AAAS chr12 53701813 53701813 C A het . 34 +intronic AAAS chr12 53702371 53702371 T C het . 26 +intergenic AAAS(dist=1741),SP7(dist=3206) chr12 53717153 53717154 AA - het . 3 +intergenic SP7(dist=12338),SP1(dist=23063) chr12 53750915 53750916 AC CA het . 2 +intronic SP1 chr12 53774779 53774779 A G het . 1 +intronic SP1 chr12 53793427 53793427 T - het . 3 +intronic AMHR2 chr12 53823175 53823175 - A het . 15 +intergenic PRR13(dist=2742),PCBP2(dist=2717) chr12 53843169 53843169 - T het . 2 +intronic PCBP2 chr12 53859667 53859667 G T het . 6 +UTR5 NPFF(NM_001320296:c.-68C>T) chr12 53901105 53901105 G A het . 3 +intronic ATF7 chr12 53972152 53972152 A - het . 2 +intronic CALCOCO1 chr12 54116746 54116746 G A het . 19 +intronic CALCOCO1 chr12 54116751 54116751 G A het . 18 +intergenic CISTR(dist=147410),HOXC13-AS(dist=30884) chr12 54298228 54298228 C A het . 2 +exonic HOXC11 chr12 54369082 54369082 G A het . 30 +intronic HOXC4 chr12 54445593 54445593 C T het . 2 +intronic CBX5 chr12 54641043 54641043 C A het . 1 +ncRNA_intronic HNRNPA1P10 chr12 54676166 54676166 T - het . 15 +intergenic NFE2(dist=22628),COPZ1(dist=1425) chr12 54717449 54717449 T C het . 2 +intronic COPZ1 chr12 54719018 54719018 T G het . 4 +ncRNA_intronic LOC102724050 chr12 54765570 54765570 C - het . 3 +intronic NCKAP1L chr12 54914662 54914662 C A het . 12 +intronic NCKAP1L chr12 54925872 54925872 T - het . 3 +intronic PDE1B chr12 54968758 54968758 - A het . 2 +ncRNA_exonic GLYCAM1 chr12 55003431 55003432 TG - het . 3 +intronic DCD chr12 55039144 55039144 A G het . 3 +intergenic DCD(dist=54885),MUCL1(dist=151137) chr12 55097162 55097162 C A het . 2 +intergenic DCD(dist=101744),MUCL1(dist=104278) chr12 55144021 55144021 G A het . 3 +exonic MUCL1 chr12 55250612 55250612 A G het . 26 +intronic TESPA1 chr12 55359785 55359785 C T het . 7 +UTR5 TESPA1(NM_014796:c.-7640G>A,NM_001351148:c.-7640G>A,NM_001261844:c.-7640G>A,NM_001351155:c.-10586G>A,NM_001351154:c.-10586G>A,NM_001351153:c.-10586G>A,NM_001351152:c.-10586G>A,NM_001351151:c.-10586G>A,NM_001351150:c.-9955G>A) chr12 55367508 55367508 C T het . 5 +intergenic NEUROD4(dist=81823),OR9K2(dist=17928) chr12 55505624 55505625 CA TG het . 2 +intergenic NEUROD4(dist=93891),OR9K2(dist=5861) chr12 55517692 55517692 C T het . 28 +intergenic NEUROD4(dist=93914),OR9K2(dist=5838) chr12 55517715 55517715 C - het . 20 +intergenic NEUROD4(dist=94021),OR9K2(dist=5730) chr12 55517822 55517823 TG CA het . 24 +intergenic OR9K2(dist=16950),OR10A7(dist=73299) chr12 55541510 55541510 T G het . 2 +intergenic OR9K2(dist=16968),OR10A7(dist=73281) chr12 55541528 55541528 T G het . 2 +intergenic OR9K2(dist=71423),OR10A7(dist=18826) chr12 55595983 55595983 T C het . 1 +downstream OR6C2(dist=746) chr12 55847682 55847682 A G het . 1 +downstream OR6C2(dist=806) chr12 55847742 55847742 G A het . 2 +exonic OR6C70 chr12 55863381 55863381 A G het . 29 +exonic OR6C70 chr12 55863398 55863398 G A het . 31 +exonic OR2AP1 chr12 55968949 55968949 G A het . 26 +intronic ITGA7 chr12 56082507 56082507 A - het . 4 +intronic SARNP chr12 56205389 56205389 A C het . 3 +intronic DNAJC14 chr12 56216153 56216153 C A het . 10 +intronic PYM1 chr12 56308359 56308359 T G het . 3 +exonic PMEL chr12 56351346 56351346 G A het . 11 +intronic RAB5B chr12 56379427 56379427 G C het . 3 +exonic ERBB3 chr12 56477541 56477541 C T het . 15 +intronic ERBB3 chr12 56478658 56478658 A C het . 13 +intronic ERBB3 chr12 56482757 56482757 C A het . 13 +intronic ERBB3 chr12 56487853 56487853 A C het . 8 +intronic ERBB3 chr12 56488913 56488913 G A het . 11 +intronic ERBB3 chr12 56490501 56490501 C A het . 17 +intronic ERBB3 chr12 56492196 56492198 AAA - het . 18 +exonic ERBB3 chr12 56494991 56494991 G A het . 27 +intronic RNF41 chr12 56607927 56607927 C T het . 5 +intronic SLC39A5 chr12 56629276 56629276 A C het . 2 +intronic CS chr12 56679070 56679071 TT - het . 16 +intronic STAT2 chr12 56744034 56744034 A - het . 7 +intronic TIMELESS chr12 56814256 56814256 - GAT het . 3 +intronic TIMELESS chr12 56818982 56818982 G C het . 3 +UTR5 TIMELESS(NM_003920:c.-20G>A,NM_001330295:c.-20G>A) chr12 56827974 56827974 C T het . 10 +intronic GLS2 chr12 56872771 56872773 AAA - het . 3 +intergenic GLS2(dist=8537),SNORA105C(dist=15914) chr12 56890735 56890735 A G het . 3 +intergenic GLS2(dist=22960),SNORA105C(dist=1491) chr12 56905158 56905158 G T het . 14 +exonic NACA chr12 57114100 57114100 A G het . 23 +intronic PRIM1 chr12 57132187 57132187 T - het . 21 +intronic PRIM1 chr12 57137828 57137828 T A het . 12 +intronic PRIM1 chr12 57139199 57139199 C A het . 3 +upstream TAC3(dist=58) chr12 57410402 57410402 T G het . 3 +intronic MYO1A chr12 57423425 57423425 C A het . 19 +exonic LRP1 chr12 57579502 57579502 C A het . 9 +intronic LRP1 chr12 57591257 57591257 C T het . 3 +intronic LRP1 chr12 57592557 57592557 C T het . 1 +intronic R3HDM2 chr12 57659311 57659311 - AAAAG het . 4 +UTR3 INHBC(NM_005538:c.*1901G>A) chr12 57845706 57845706 G A het . 3 +intronic GLI1 chr12 57857881 57857881 G A het . 8 +UTR5 ARHGAP9(NM_001319851:c.-205C>T) chr12 57870612 57870612 G A het . 8 +UTR5 ARHGAP9(NM_001319851:c.-241T>C) chr12 57870648 57870648 A G het . 12 +intronic ARHGAP9 chr12 57870933 57870933 T G het . 9 +intronic ARHGAP9 chr12 57872567 57872567 T G het . 4 +intronic MARS chr12 57882710 57882710 C A het . 8 +upstream MBD6(dist=852) chr12 57915807 57915807 C G het . 1 +intronic MBD6 chr12 57920262 57920262 T G het . 2 +intronic DCTN2 chr12 57929244 57929245 AC - het . 9 +intronic DCTN2 chr12 57938179 57938179 T - het . 2 +intronic KIF5A chr12 57963277 57963277 C A het . 25 +exonic KIF5A chr12 57965875 57965875 A G het . 35 +exonic ARHGEF25 chr12 58009432 58009432 A G het . 30 +intronic SLC26A10 chr12 58016930 58016930 C A het . 9 +intergenic B4GALNT1(dist=58005),OS9(dist=2711) chr12 58085027 58085027 T C het . 4 +intergenic B4GALNT1(dist=58009),OS9(dist=2707) chr12 58085031 58085031 T C het . 4 +intronic AGAP2 chr12 58135659 58135659 T C het . 3 +intronic TSFM chr12 58177437 58177437 C T het . 12 +exonic TSFM chr12 58190244 58190244 C T het . 7 +intergenic LINC02403(dist=151088),LINC02388(dist=321511) chr12 58638231 58638231 G A het . 4 +intergenic LINC02403(dist=192037),LINC02388(dist=280562) chr12 58679180 58679180 G T het . 2 +ncRNA_intronic LOC100506869 chr12 59205543 59205543 A - het . 7 +intronic LRIG3 chr12 59277491 59277491 C A het . 6 +intronic LRIG3 chr12 59279589 59279589 G A het . 10 +intronic LRIG3 chr12 59313702 59313702 A C het . 3 +intergenic LRIG3(dist=18954),SLC16A7(dist=656548) chr12 59333273 59333273 G A het . 3 +intergenic LRIG3(dist=129544),SLC16A7(dist=545958) chr12 59443863 59443863 A G het . 1 +intergenic LRIG3(dist=235650),SLC16A7(dist=439852) chr12 59549969 59549969 C A het . 2 +intergenic LRIG3(dist=586026),SLC16A7(dist=89476) chr12 59900345 59900345 G A het . 2 +intergenic LRIG3(dist=596067),SLC16A7(dist=79435) chr12 59910386 59910386 C T het . 2 +intergenic LRIG3(dist=655649),SLC16A7(dist=19853) chr12 59969968 59969968 C A het . 2 +intergenic SLC16A7(dist=67261),FAM19A2(dist=1851133) chr12 60250896 60250896 C T het . 2 +intergenic SLC16A7(dist=133681),FAM19A2(dist=1784713) chr12 60317316 60317316 T A het . 2 +intergenic SLC16A7(dist=328773),FAM19A2(dist=1589621) chr12 60512408 60512408 G A het . 2 +intergenic SLC16A7(dist=352919),FAM19A2(dist=1565474) chr12 60536554 60536555 TT - het . 1 +intergenic SLC16A7(dist=535303),FAM19A2(dist=1383091) chr12 60718938 60718938 T G het . 3 +intergenic SLC16A7(dist=918679),FAM19A2(dist=999715) chr12 61102314 61102314 A C het . 2 +intergenic SLC16A7(dist=1126616),FAM19A2(dist=791778) chr12 61310251 61310251 A - het . 2 +intergenic SLC16A7(dist=1284393),FAM19A2(dist=634001) chr12 61468028 61468028 A G het . 1 +intergenic SLC16A7(dist=1307742),FAM19A2(dist=610652) chr12 61491377 61491377 T C het . 2 +intergenic SLC16A7(dist=1361672),FAM19A2(dist=556722) chr12 61545307 61545307 T C het . 2 +intergenic SLC16A7(dist=1442295),FAM19A2(dist=476099) chr12 61625930 61625930 C T het . 3 +intergenic SLC16A7(dist=1798918),FAM19A2(dist=119476) chr12 61982553 61982553 G A het . 2 +intergenic SLC16A7(dist=1830954),FAM19A2(dist=87440) chr12 62014589 62014589 - A het . 2 +intergenic SLC16A7(dist=1830965),FAM19A2(dist=87429) chr12 62014600 62014600 T A het . 2 +intronic FAM19A2 chr12 62418929 62418929 A G het . 2 +intergenic FAM19A2(dist=35263),USP15(dist=32238) chr12 62621883 62621883 G T het . 3 +exonic USP15 chr12 62778065 62778065 A G het . 15 +intronic USP15 chr12 62783051 62783051 T C het . 6 +intergenic USP15(dist=7461),MON2(dist=49635) chr12 62810962 62810962 G A het . 13 +intronic MON2 chr12 62894540 62894540 A C het . 12 +intronic PPM1H chr12 63071516 63071516 A G het . 3 +intronic PPM1H chr12 63071551 63071551 T C het . 2 +intronic PPM1H chr12 63149484 63149484 G C het . 3 +exonic PPM1H chr12 63195621 63195621 G C het . 11 +intergenic PPM1H(dist=108466),AVPR1A(dist=99407) chr12 63437131 63437132 TT AA het . 2 +intergenic PPM1H(dist=113940),AVPR1A(dist=93934) chr12 63442605 63442605 A G het . 2 +exonic AVPR1A chr12 63543693 63543693 G T het . 11 +intergenic AVPR1A(dist=300634),DPY19L2(dist=105469) chr12 63847224 63847224 T A het . 2 +intergenic AVPR1A(dist=364380),DPY19L2(dist=41723) chr12 63910970 63910970 T C het . 1 +intronic DPY19L2 chr12 63991415 63991415 - T het . 10 +exonic DPY19L2 chr12 64062052 64062052 G A het . 31 +exonic DPY19L2 chr12 64062065 64062065 T C het . 29 +exonic SRGAP1 chr12 64456794 64456794 A T het . 27 +exonic C12orf66 chr12 64587633 64587633 C A het . 15 +intronic C12orf56 chr12 64661209 64661210 AT CC het . 6 +intronic C12orf56 chr12 64727191 64727191 G A het . 2 +intronic C12orf56 chr12 64746924 64746924 - T het . 16 +intronic C12orf56 chr12 64746960 64746960 C T het . 13 +intronic XPOT chr12 64803889 64803889 C A het . 18 +intronic XPOT chr12 64809165 64809165 A T het . 2 +intronic XPOT chr12 64838753 64838754 AA - het . 10 +intronic XPOT chr12 64838783 64838783 C A het . 8 +intronic TBK1 chr12 64849868 64849868 C T het . 4 +intronic TBK1 chr12 64891402 64891404 TTT - het . 12 +intronic RASSF3 chr12 65036369 65036369 G A het . 3 +intronic RASSF3 chr12 65057771 65057771 A G het . 3 +intronic GNS chr12 65130628 65130628 - A het . 4 +intronic GNS chr12 65133419 65133419 A - het . 10 +intronic TBC1D30 chr12 65258567 65258567 T G het . 8 +UTR3 TBC1D30(NM_001330187:c.*2533C>A,NM_001330188:c.*2533C>A,NM_015279:c.*2533C>A,NM_001330186:c.*2533C>A,NM_001364838:c.*2533C>A) chr12 65272101 65272101 C A het . 2 +ncRNA_intronic LINC02389 chr12 65312590 65312590 C T het . 2 +exonic WIF1 chr12 65445175 65445175 T - het . 6 +intronic WIF1 chr12 65451872 65451872 T - het . 3 +intronic WIF1 chr12 65477560 65477560 - CCTTT het . 3 +intergenic WIF1(dist=13040),LEMD3(dist=34965) chr12 65528386 65528386 C A het . 5 +intronic LEMD3 chr12 65609707 65609707 - T het . 14 +intronic MSRB3 chr12 65813626 65813626 C G het . 5 +ncRNA_intronic LOC100507065 chr12 65987489 65987489 A C het . 1 +intronic HMGA2 chr12 66232173 66232173 - A het . 7 +ncRNA_intronic LINC02425 chr12 66424432 66424432 T A het . 2 +intergenic LINC02425(dist=6658),LLPH(dist=85344) chr12 66431504 66431505 AA - het . 11 +intergenic LINC02425(dist=6683),LLPH(dist=85320) chr12 66431529 66431529 G A het . 12 +intronic LLPH chr12 66517828 66517828 T A het . 3 +intronic LLPH chr12 66522629 66522630 AA - het . 7 +intronic IRAK3 chr12 66620283 66620283 C A het . 3 +exonic HELB chr12 66725202 66725202 C T het . 26 +exonic HELB chr12 66725230 66725230 C A het . 25 +intronic GRIP1 chr12 66771109 66771109 T - het . 15 +intronic GRIP1 chr12 66771121 66771121 T C het . 15 +intronic GRIP1 chr12 66849908 66849908 G A het . 12 +intergenic LOC102724421(dist=10553),CAND1(dist=162444) chr12 67500617 67500617 G A het . 2 +intergenic CAND1(dist=15221),LINC02420(dist=111084) chr12 67723693 67723694 CT TC het . 3 +intergenic CAND1(dist=29681),LINC02420(dist=96625) chr12 67738153 67738153 C T het . 3 +intergenic CAND1(dist=102773),LINC02420(dist=23524) chr12 67811245 67811254 AAAACAAAAC - het . 2 +ncRNA_intronic LINC02408 chr12 67922137 67922137 T G het . 2 +intergenic LINC02421(dist=195310),LINC01479(dist=4450) chr12 68318565 68318565 A G het . 1 +ncRNA_intronic LINC01479 chr12 68337584 68337584 T C het . 2 +intergenic IL22(dist=12800),MDM1(dist=28162) chr12 68660184 68660184 C A het . 2 +intergenic LINC02384(dist=18362),RAP1B(dist=140993) chr12 68863626 68863626 G T het . 5 +intronic RAP1B chr12 69044429 69044429 A G het . 4 +intronic RAP1B chr12 69050347 69050347 A - het . 5 +intronic NUP107 chr12 69120413 69120413 C T het . 8 +intronic NUP107 chr12 69125513 69125514 GG TT het . 7 +UTR3 SLC35E3(NM_018656:c.*1926C>A,NM_001354997:c.*1926C>A) chr12 69160596 69160596 C A het . 18 +intronic MDM2 chr12 69214082 69214082 T - het . 13 +intronic MDM2 chr12 69230736 69230736 T - het . 4 +exonic MDM2 chr12 69233522 69233522 C A het . 18 +UTR5 CPSF6(NM_007007:c.-48A>G,NM_001300947:c.-48A>G) chr12 69633379 69633379 A G het . 18 +exonic CPSF6 chr12 69646914 69646914 G A het . 21 +intronic CPSF6 chr12 69646939 69646939 - T het . 11 +intergenic YEATS4(dist=19372),FRS2(dist=60107) chr12 69804022 69804022 G A het . 2 +intronic FRS2 chr12 69950105 69950105 - TTTC het . 3 +intronic CCT2 chr12 69986701 69986701 C A het . 17 +intronic CCT2 chr12 69991627 69991627 C T het . 7 +intronic CCT2 chr12 69991660 69991660 A T het . 10 +intronic CNOT2 chr12 70672149 70672149 T A het . 3 +intronic KCNMB4 chr12 70813673 70813673 C G het . 2 +intronic PTPRB chr12 70915347 70915347 A G het . 8 +intronic PTPRB chr12 70948833 70948833 A C het . 1 +exonic PTPRB chr12 70954547 70954547 G A het . 43 +intronic PTPRB chr12 70959075 70959075 C T het . 1 +intronic PTPRB chr12 71029365 71029365 - AAAC het . 10 +intronic PTPRR chr12 71148592 71148592 - T het . 9 +exonic PTPRR chr12 71158453 71158453 G A het . 19 +intronic PTPRR chr12 71190119 71190120 AC TT het . 3 +intronic TSPAN8 chr12 71523043 71523043 C A het . 3 +intronic TSPAN8 chr12 71531639 71531639 G A het . 2 +intergenic TSPAN8(dist=41262),LGR5(dist=240509) chr12 71593041 71593041 C T het . 1 +intergenic TSPAN8(dist=74640),LGR5(dist=207131) chr12 71626419 71626419 G A het . 2 +intergenic TSPAN8(dist=202554),LGR5(dist=79217) chr12 71754333 71754333 T G het . 3 +intergenic TSPAN8(dist=215284),LGR5(dist=66487) chr12 71767063 71767063 C T het . 2 +intergenic TSPAN8(dist=215287),LGR5(dist=66484) chr12 71767066 71767066 C T het . 2 +intronic LGR5 chr12 71965269 71965269 C A het . 6 +intronic ZFC3H1 chr12 72007110 72007110 C A het . 17 +exonic ZFC3H1 chr12 72057293 72057293 T C het . 29 +intergenic TMEM19(dist=17467),RAB21(dist=33332) chr12 72115306 72115311 TTTCTT - het . 2 +intronic RAB21 chr12 72163747 72163747 G T het . 6 +exonic TBC1D15 chr12 72307616 72307616 A G het . 11 +intronic TPH2 chr12 72417544 72417544 C T het . 1 +intronic TRHDE chr12 72771954 72771954 C G het . 6 +intronic TRHDE chr12 72880880 72880880 - T het . 2 +intronic TRHDE chr12 72927504 72927504 T - het . 2 +intronic TRHDE chr12 72935947 72935947 G C het . 4 +intergenic TRHDE(dist=334133),LINC02444(dist=159415) chr12 73393555 73393555 A G het . 1 +intergenic TRHDE(dist=340620),LINC02444(dist=152926) chr12 73400042 73400044 AAG - het . 3 +intergenic LINC02444(dist=507596),LOC100507377(dist=417263) chr12 74109693 74109693 G A het . 1 +ncRNA_intronic LOC100507377 chr12 74632951 74632951 G C het . 2 +ncRNA_intronic LOC100507377 chr12 74632969 74632969 A G het . 2 +intergenic LOC100507377(dist=25182),ATXN7L3B(dist=219951) chr12 74711593 74711600 CCTCCCTC - het . 2 +intergenic LOC100507377(dist=194134),ATXN7L3B(dist=51006) chr12 74880545 74880545 - TT het . 2 +intergenic LOC100507377(dist=194143),ATXN7L3B(dist=50997) chr12 74880554 74880554 A T het . 2 +intergenic LOC100507377(dist=228047),ATXN7L3B(dist=17093) chr12 74914458 74914458 G A het . 3 +intergenic LOC100507377(dist=233938),ATXN7L3B(dist=11202) chr12 74920349 74920349 C G het . 1 +intergenic ATXN7L3B(dist=269343),KCNC2(dist=229281) chr12 75204575 75204577 AAT - het . 2 +exonic CAPS2 chr12 75683436 75683436 C A het . 17 +intronic GLIPR1L2 chr12 75823601 75823601 T A het . 3 +exonic GLIPR1L2 chr12 75824893 75824893 G A het . 27 +UTR3 GLIPR1(NM_006851:c.*630T>A),KRR1(NM_007043:c.*201A>T) chr12 75893388 75893388 T A het . 7 +UTR3 GLIPR1(NM_006851:c.*646C>A),KRR1(NM_007043:c.*185G>T) chr12 75893404 75893404 C A het . 7 +UTR3 GLIPR1(NM_006851:c.*721delA),KRR1(NM_007043:c.*110delT) chr12 75893479 75893479 A - het . 8 +UTR3 GLIPR1(NM_006851:c.*728A>G),KRR1(NM_007043:c.*103T>C) chr12 75893486 75893486 A G het . 10 +UTR3 GLIPR1(NM_006851:c.*2861T>C) chr12 75895619 75895619 T C het . 20 +intergenic KRR1(dist=50436),PHLDA1(dist=463373) chr12 75955854 75955854 T C het . 2 +intergenic KRR1(dist=153636),PHLDA1(dist=360173) chr12 76059054 76059054 A - het . 2 +intergenic KRR1(dist=177073),PHLDA1(dist=336735) chr12 76082491 76082492 TT - het . 9 +exonic PHLDA1 chr12 76424938 76424940 TGC - het . 34 +exonic NAP1L1 chr12 76449900 76449900 T C het . 22 +exonic NAP1L1 chr12 76449931 76449931 T C het . 25 +intergenic NAP1L1(dist=136872),LINC02407(dist=37978) chr12 76615685 76615685 A C het . 3 +intergenic NAP1L1(dist=136879),LINC02407(dist=37971) chr12 76615692 76615692 C T het . 2 +intergenic NAP1L1(dist=142680),LINC02407(dist=32170) chr12 76621493 76621493 C A het . 1 +ncRNA_intronic LINC02407 chr12 76666704 76666704 T G het . 2 +ncRNA_intronic LINC02407 chr12 76684663 76684663 G A het . 1 +UTR3 BBS10(NM_024685:c.*15A>G) chr12 76739578 76739578 T C het . 39 +intronic OSBPL8 chr12 76804168 76804168 G A het . 4 +intergenic OSBPL8(dist=87162),ZDHHC17(dist=117103) chr12 77040751 77040751 C T het . 3 +intergenic OSBPL8(dist=101121),ZDHHC17(dist=103144) chr12 77054710 77054710 A - het . 5 +intronic ZDHHC17 chr12 77203008 77203008 G A het . 3 +intronic ZDHHC17 chr12 77214890 77214890 C T het . 12 +intergenic CSRP2(dist=76638),E2F7(dist=65568) chr12 77349458 77349458 G A het . 3 +intergenic E2F7(dist=475337),NAV3(dist=290372) chr12 77934697 77934697 G A het . 2 +intergenic E2F7(dist=494333),NAV3(dist=271376) chr12 77953693 77953693 T C het . 2 +intergenic E2F7(dist=654576),NAV3(dist=111132) chr12 78113936 78113937 TC - het . 2 +intergenic E2F7(dist=654589),NAV3(dist=111120) chr12 78113949 78113949 C G het . 2 +intronic NAV3 chr12 78368237 78368237 - T het . 3 +intronic NAV3 chr12 78537138 78537138 - GGT het . 7 +intronic NAV3 chr12 78573164 78573164 C T het . 2 +intronic NAV3 chr12 78582566 78582566 A G het . 4 +ncRNA_intronic LINC02424 chr12 78730545 78730545 C A het . 2 +intergenic LINC02424(dist=142814),SYT1(dist=361433) chr12 78896340 78896340 T G het . 2 +intergenic LINC02424(dist=280889),SYT1(dist=223358) chr12 79034415 79034415 G A het . 1 +intronic SYT1 chr12 79685410 79685410 C G het . 12 +intronic SYT1 chr12 79813154 79813154 C A het . 23 +intergenic SYT1(dist=107000),PAWR(dist=25866) chr12 79952788 79952788 C A het . 20 +intronic PPP1R12A chr12 80175897 80175897 T C het . 2 +intronic PPP1R12A chr12 80182744 80182744 T G het . 2 +intronic PPP1R12A chr12 80189571 80189571 C A het . 11 +intronic PPP1R12A chr12 80215873 80215873 C A het . 19 +UTR5 PPP1R12A(NM_002480:c.-20A>C,NM_001244992:c.-20A>C,NM_001244990:c.-20A>C,NM_001143885:c.-20A>C) chr12 80328731 80328731 T G het . 11 +intergenic PPP1R12A-AS1(dist=163724),OTOGL(dist=104334) chr12 80498899 80498899 G A het . 3 +intergenic PPP1R12A-AS1(dist=265367),OTOGL(dist=2691) chr12 80600542 80600542 C T het . 2 +intronic OTOGL chr12 80613571 80613572 TT - het . 17 +intronic OTOGL chr12 80645799 80645799 A T het . 3 +intronic OTOGL chr12 80661189 80661189 T A het . 2 +intronic OTOGL chr12 80722355 80722355 A G het . 11 +intronic OTOGL chr12 80722385 80722385 - T het . 11 +intronic OTOGL chr12 80750741 80750741 - A het . 9 +intronic OTOGL chr12 80762163 80762163 - CC het . 4 +intronic OTOGL chr12 80765684 80765684 G - het . 6 +intronic OTOGL chr12 80765686 80765687 AG - het . 6 +downstream OTOGL(dist=492) chr12 80773362 80773362 G T het . 2 +intronic PTPRQ chr12 80877766 80877766 - TTTG het . 8 +intronic PTPRQ chr12 81004140 81004140 G A het . 2 +intronic PTPRQ chr12 81010106 81010106 C T het . 8 +intronic MYF5 chr12 81112134 81112134 T C het . 7 +intronic ACSS3 chr12 81533421 81533421 G A het . 1 +intronic PPFIA2 chr12 82085676 82085676 G A het . 2 +intergenic PPFIA2(dist=130020),LINC02426(dist=64369) chr12 82283129 82283129 T C het . 2 +intergenic LINC02426(dist=240096),CCDC59(dist=119075) chr12 82627008 82627008 C T het . 2 +intergenic LINC02426(dist=291201),CCDC59(dist=67970) chr12 82678113 82678113 C T het . 4 +exonic METTL25 chr12 82763298 82763298 A G het . 5 +exonic METTL25 chr12 82780610 82780610 T C het . 15 +exonic METTL25 chr12 82792787 82792787 C A het . 36 +intronic METTL25 chr12 82824105 82824105 - AT het . 2 +intronic METTL25 chr12 82828426 82828426 - ATAAG het . 12 +intergenic METTL25(dist=79405),TMTC2(dist=128513) chr12 82952421 82952421 G T het . 2 +intronic TMTC2 chr12 83155667 83155667 C T het . 1 +intronic TMTC2 chr12 83155673 83155673 T C het . 1 +intronic TMTC2 chr12 83424455 83424455 A T het . 6 +intergenic TMTC2(dist=332016),SLC6A15(dist=1392604) chr12 83860663 83860663 A G het . 2 +intergenic TMTC2(dist=535134),SLC6A15(dist=1189485) chr12 84063781 84063782 TA - het . 2 +intergenic TMTC2(dist=588007),SLC6A15(dist=1136613) chr12 84116654 84116654 T G het . 2 +intergenic TMTC2(dist=693355),SLC6A15(dist=1031265) chr12 84222002 84222002 G T het . 1 +intergenic TMTC2(dist=762580),SLC6A15(dist=962040) chr12 84291227 84291227 G A het . 3 +intergenic TMTC2(dist=763304),SLC6A15(dist=961316) chr12 84291951 84291951 - A het . 2 +intergenic TMTC2(dist=768880),SLC6A15(dist=955740) chr12 84297527 84297527 - C het . 2 +intergenic TMTC2(dist=1063149),SLC6A15(dist=661471) chr12 84591796 84591796 G A het . 4 +intergenic TMTC2(dist=1071066),SLC6A15(dist=653553) chr12 84599713 84599714 AA - het . 1 +intergenic TMTC2(dist=1291478),SLC6A15(dist=433142) chr12 84820125 84820125 T A het . 2 +intergenic TMTC2(dist=1291508),SLC6A15(dist=433112) chr12 84820155 84820155 G A het . 2 +UTR5 SLC6A15(NM_182767:c.-22_-21insT,NM_018057:c.-22_-21insT) chr12 85285920 85285920 - A het . 2 +intergenic SLC6A15(dist=77453),TSPAN19(dist=24033) chr12 85384061 85384061 - T het . 2 +intronic LRRIQ1 chr12 85439610 85439610 A G het . 4 +intronic LRRIQ1 chr12 85440933 85440941 AAAAAAATT - het . 9 +intronic ALX1 chr12 85688825 85688825 A T het . 1 +intergenic ALX1(dist=35997),RASSF9(dist=466773) chr12 85731558 85731558 A T het . 2 +intergenic ALX1(dist=415932),RASSF9(dist=86838) chr12 86111493 86111493 T G het . 2 +intergenic ALX1(dist=468045),RASSF9(dist=34725) chr12 86163606 86163606 A G het . 2 +intergenic ALX1(dist=469651),RASSF9(dist=33119) chr12 86165212 86165212 A T het . 2 +intergenic NTS(dist=50276),MGAT4C(dist=40027) chr12 86327046 86327046 A C het . 2 +intergenic NTS(dist=84086),MGAT4C(dist=6217) chr12 86360856 86360856 T G het . 2 +intronic MGAT4C chr12 86441925 86441925 G A het . 1 +intronic MGAT4C chr12 86537544 86537544 A G het . 2 +intronic MGAT4C chr12 86759221 86759221 A C het . 1 +intronic MGAT4C chr12 86978591 86978591 T C het . 2 +intronic MGAT4C chr12 87065157 87065157 T G het . 1 +intronic MGAT4C chr12 87203337 87203337 A T het . 2 +intergenic MGAT4C(dist=299413),LOC105369879(dist=192320) chr12 87532196 87532196 T A het . 1 +intergenic MGAT4C(dist=368511),LOC105369879(dist=123222) chr12 87601294 87601294 C T het . 1 +intergenic MGAT4C(dist=434538),LOC105369879(dist=57195) chr12 87667321 87667321 A T het . 3 +intergenic MGAT4C(dist=434542),LOC105369879(dist=57191) chr12 87667325 87667325 C T het . 3 +intergenic LOC105369879(dist=143252),LINC02258(dist=293239) chr12 87869350 87869350 T C het . 2 +ncRNA_exonic MKRN9P chr12 88178272 88178274 GCC - het . 2 +UTR5 C12orf50(NM_152589:c.-90C>T,NM_001363616:c.-90C>T) chr12 88420829 88420829 G A het . 8 +exonic CEP290 chr12 88482910 88482910 C A het . 15 +intronic CEP290 chr12 88532817 88532817 C A het . 26 +intergenic TMTC3(dist=43378),KITLG(dist=249520) chr12 88637042 88637050 TTTCTTTCT - het . 3 +intergenic TMTC3(dist=43440),KITLG(dist=249466) chr12 88637104 88637104 - TCTT het . 3 +intergenic TMTC3(dist=184913),KITLG(dist=107993) chr12 88778577 88778577 G T het . 2 +intronic KITLG chr12 88926063 88926063 A - het . 4 +intergenic LINC02458(dist=167146),DUSP6(dist=160987) chr12 89580615 89580615 A G het . 1 +intergenic LINC02458(dist=291091),DUSP6(dist=37039) chr12 89704560 89704563 AAAA - het . 2 +intergenic LINC02458(dist=291107),DUSP6(dist=37026) chr12 89704576 89704576 A T het . 2 +intergenic DUSP6(dist=35207),POC1B(dist=31655) chr12 89781843 89781843 A C het . 2 +intergenic DUSP6(dist=35226),POC1B(dist=31636) chr12 89781862 89781862 T C het . 2 +intronic POC1B chr12 89818289 89818289 T C het . 1 +intronic POC1B chr12 89853408 89853408 G A het . 3 +intergenic POC1B-AS1(dist=13323),ATP2B1(dist=33184) chr12 89948642 89948642 G T het . 2 +exonic ATP2B1 chr12 89992937 89992937 C A het . 20 +intronic ATP2B1 chr12 89995054 89995054 A - het . 11 +exonic ATP2B1 chr12 90013824 90013824 C A het . 20 +intronic ATP2B1 chr12 90015579 90015579 - A het . 5 +intergenic LINC02392(dist=80547),LINC00615(dist=536778) chr12 90775022 90775022 T A het . 4 +intergenic LINC02392(dist=263030),LINC00615(dist=354295) chr12 90957505 90957505 T C het . 2 +intergenic LINC02392(dist=295699),LINC00615(dist=321626) chr12 90990174 90990174 T A het . 1 +intergenic LINC02392(dist=324101),LINC00615(dist=293224) chr12 91018576 91018576 A G het . 2 +ncRNA_exonic LINC00615 chr12 91340253 91340254 TT - het . 22 +intergenic CCER1(dist=6686),EPYC(dist=1817) chr12 91355639 91355639 A T het . 1 +intronic EPYC chr12 91396006 91396006 G A het . 2 +intronic KERA chr12 91445488 91445488 T A het . 2 +exonic KERA chr12 91449451 91449451 G A het . 33 +exonic LUM chr12 91502704 91502704 C A het . 17 +intergenic DCN(dist=615563),LINC01619(dist=186288) chr12 92192464 92192464 A - het . 2 +intergenic DCN(dist=764536),LINC01619(dist=37315) chr12 92341437 92341437 T G het . 2 +intergenic DCN(dist=764540),LINC01619(dist=37311) chr12 92341441 92341441 A G het . 2 +intergenic DCN(dist=764549),LINC01619(dist=37302) chr12 92341450 92341450 G A het . 2 +UTR5 BTG1(NM_001731:c.-33A>G) chr12 92539344 92539344 T C het . 4 +intergenic LOC101928617(dist=95720),CLLU1OS(dist=138590) chr12 92675280 92675280 A G het . 1 +intergenic LOC101928617(dist=95725),CLLU1OS(dist=138585) chr12 92675285 92675285 A T het . 1 +intergenic LINC02397(dist=46964),C12orf74(dist=171932) chr12 92924687 92924687 T C het . 3 +intergenic LINC02397(dist=46973),C12orf74(dist=171923) chr12 92924696 92924696 G A het . 3 +intergenic LINC02397(dist=47030),C12orf74(dist=171866) chr12 92924753 92924753 C T het . 6 +intronic PLEKHG7 chr12 93149721 93149721 A - het . 9 +intronic EEA1 chr12 93236402 93236402 C T het . 7 +intronic EEA1 chr12 93236419 93236419 T G het . 8 +intronic EEA1 chr12 93246842 93246842 - A het . 16 +intronic EEA1 chr12 93247775 93247775 - ATA het . 9 +intronic EEA1 chr12 93258125 93258125 C T het . 2 +intronic EEA1 chr12 93260053 93260053 G T het . 2 +intronic EEA1 chr12 93304254 93304254 T A het . 2 +ncRNA_intronic NUDT4P2 chr12 93789537 93789537 G A het . 8 +ncRNA_intronic NUDT4P2 chr12 93792655 93792655 A G het . 13 +intronic UBE2N chr12 93823046 93823047 AA - het . 18 +intronic MRPL42 chr12 93873111 93873111 C A het . 10 +intronic MRPL42 chr12 93873119 93873119 C A het . 11 +intronic MRPL42 chr12 93894779 93894779 A T het . 5 +intronic CRADD chr12 94158487 94158487 G A het . 2 +intronic CRADD chr12 94178875 94178875 A T het . 2 +intergenic LOC105369911(dist=70133),PLXNC1(dist=134984) chr12 94407515 94407515 G A het . 3 +intergenic LOC105369911(dist=184028),PLXNC1(dist=21089) chr12 94521410 94521410 C T het . 1 +intronic PLXNC1 chr12 94575163 94575163 A - het . 16 +exonic PLXNC1 chr12 94648996 94648996 T G het . 31 +intronic PLXNC1 chr12 94675906 94675910 AAAGT - het . 8 +UTR3 CEP83(NM_001346461:c.*1482G>C,NM_001346460:c.*1482G>C,NM_001346462:c.*1482G>C) chr12 94762205 94762205 C G het . 2 +exonic CEP83 chr12 94797035 94797035 A G het . 18 +intergenic CEP83-DT(dist=59633),MIR5700(dist=39588) chr12 94915977 94915977 G A het . 2 +intergenic CEP83-DT(dist=62259),MIR5700(dist=36962) chr12 94918603 94918603 C T het . 2 +exonic TMCC3 chr12 94975799 94975799 G A het . 6 +intronic TMCC3 chr12 94982913 94982913 G - het . 2 +intronic TMCC3 chr12 94982922 94982922 T A het . 2 +intronic TMCC3 chr12 95030261 95030261 C A het . 2 +intergenic TMCC3(dist=32082),MIR492(dist=151754) chr12 95076420 95076420 G A het . 3 +intergenic TMCC3(dist=90338),MIR492(dist=93497) chr12 95134676 95134677 GA AG het . 3 +intergenic TMCC3(dist=90345),MIR492(dist=93491) chr12 95134683 95134683 A G het . 3 +intergenic TMCC3(dist=90362),MIR492(dist=93474) chr12 95134700 95134700 A - het . 2 +intergenic KRT19P2(dist=113425),NDUFA12(dist=22875) chr12 95342229 95342229 A G het . 3 +intronic NDUFA12 chr12 95396512 95396512 C A het . 39 +intronic NR2C1 chr12 95453641 95453641 - T het . 6 +intronic FGD6 chr12 95491459 95491459 A T het . 2 +intronic FGD6 chr12 95498748 95498750 AAA - het . 7 +intronic FGD6 chr12 95506017 95506017 - A het . 4 +intronic FGD6 chr12 95520064 95520064 A G het . 15 +exonic FGD6 chr12 95602805 95602805 C A het . 35 +exonic FGD6 chr12 95603365 95603365 T C het . 20 +intronic VEZT chr12 95661809 95661809 T C het . 1 +intergenic MIR3685(dist=67584),METAP2(dist=96478) chr12 95771344 95771344 A G het . 2 +intergenic USP44(dist=61285),PGAM1P5(dist=36480) chr12 96006551 96006551 C G het . 6 +intergenic USP44(dist=61309),PGAM1P5(dist=36456) chr12 96006575 96006575 - T het . 4 +ncRNA_intronic LINC02410,LOC105369921 chr12 96200660 96200660 T A het . 2 +ncRNA_intronic LOC105369921 chr12 96217840 96217840 C T het . 4 +intronic CCDC38 chr12 96282742 96282742 A - het . 5 +intronic CCDC38 chr12 96282750 96282750 T C het . 5 +intronic CCDC38 chr12 96292280 96292280 - AAAC het . 16 +intronic CCDC38 chr12 96315072 96315072 G A het . 1 +intronic CCDC38 chr12 96330004 96330004 G T het . 2 +intronic HAL chr12 96386646 96386646 - CCCTCCCT het . 18 +intronic LTA4H chr12 96410736 96410736 C A het . 15 +intronic CDK17 chr12 96691264 96691264 T C het . 7 +intergenic CDK17(dist=38819),CFAP54(dist=50164) chr12 96833185 96833185 A - het . 2 +intergenic CDK17(dist=74606),CFAP54(dist=14377) chr12 96868972 96868972 T G het . 3 +intergenic CDK17(dist=74614),CFAP54(dist=14369) chr12 96868980 96868980 C G het . 3 +intronic CFAP54 chr12 96921328 96921328 T - het . 5 +exonic CFAP54 chr12 96927972 96927972 A G het . 5 +intronic CFAP54 chr12 96988037 96988037 C G het . 7 +intronic CFAP54 chr12 97041523 97041523 A C het . 7 +intronic CFAP54 chr12 97045673 97045673 T - het . 8 +intronic NEDD1 chr12 97303522 97303522 A G het . 9 +intronic NEDD1 chr12 97311541 97311541 T C het . 8 +intronic NEDD1 chr12 97331220 97331220 T - het . 4 +intergenic NEDD1(dist=97252),RMST(dist=411833) chr12 97444721 97444721 C T het . 1 +intergenic NEDD1(dist=127480),RMST(dist=381605) chr12 97474949 97474949 G A het . 2 +intergenic NEDD1(dist=451780),RMST(dist=57305) chr12 97799249 97799249 G A het . 3 +ncRNA_intronic RMST chr12 97893444 97893444 T C het . 3 +intergenic MIR4303(dist=179311),SLC9A7P1(dist=279080) chr12 98568537 98568539 AAA - het . 3 +intergenic MIR4303(dist=413576),SLC9A7P1(dist=44817) chr12 98802802 98802802 A T het . 2 +ncRNA_exonic LINC02453 chr12 98880902 98880902 A - het . 9 +intergenic LINC02453(dist=6066),TMPO-AS1(dist=3052) chr12 98903699 98903699 G C het . 2 +intronic TMPO chr12 98938416 98938416 - T het . 10 +intronic SLC25A3 chr12 98994154 98994154 G A het . 3 +intronic ANKS1B chr12 99129497 99129497 G A het . 5 +intronic ANKS1B chr12 99369446 99369446 A G het . 1 +intronic ANKS1B chr12 99451513 99451513 - GG het . 2 +intronic ANKS1B chr12 100129101 100129101 T C het . 2 +exonic UHRF1BP1L chr12 100441872 100441872 T C het . 38 +exonic UHRF1BP1L chr12 100444984 100444984 G A het . 9 +intronic UHRF1BP1L chr12 100496776 100496776 C A het . 5 +intergenic GOLGA2P5(dist=3897),MIR1827(dist=12644) chr12 100571018 100571018 A C het . 6 +intronic DEPDC4 chr12 100636485 100636485 T C het . 2 +intronic SLC17A8 chr12 100806390 100806390 C A het . 7 +intronic GAS2L3 chr12 100973487 100973487 G T het . 21 +intergenic GAS2L3(dist=62981),ANO4(dist=103327) chr12 101085047 101085047 T C het . 1 +intergenic GAS2L3(dist=151990),ANO4(dist=14318) chr12 101174056 101174056 A G het . 1 +intronic ANO4 chr12 101368534 101368534 C A het . 21 +intronic ANO4 chr12 101505216 101505216 A C het . 4 +intergenic SLC5A8(dist=48219),UTP20(dist=21634) chr12 101652271 101652271 - TCTT het . 2 +intronic UTP20 chr12 101690392 101690392 A G het . 2 +exonic UTP20 chr12 101750467 101750468 CC TT het . 10 +intronic ARL1 chr12 101800507 101800507 A G het . 1 +intronic SPIC chr12 101870804 101870804 G A het . 5 +intergenic SPIC(dist=54874),MYBPC1(dist=53060) chr12 101935649 101935649 C T het . 3 +intronic MYBPC1 chr12 102009731 102009731 C T het . 1 +intronic MYBPC1 chr12 102042985 102042985 - T het . 19 +exonic MYBPC1 chr12 102045056 102045056 C A het . 31 +intronic MYBPC1 chr12 102046303 102046303 - CT het . 7 +intronic MYBPC1 chr12 102061794 102061801 TTAATGCT - het . 17 +intronic CHPT1 chr12 102110335 102110335 T C het . 7 +intronic SYCP3 chr12 102131091 102131093 AAA - het . 12 +intronic GNPTAB chr12 102141313 102141313 C A het . 4 +intronic GNPTAB chr12 102157016 102157016 G A het . 2 +exonic GNPTAB chr12 102158164 102158164 C A het . 27 +intronic GNPTAB chr12 102182181 102182181 G A het . 15 +intronic GNPTAB chr12 102182229 102182230 AC - het . 18 +intronic GNPTAB chr12 102183696 102183696 A - het . 34 +UTR5 GNPTAB(NM_024312:c.-39_-41delGGC) chr12 102224492 102224494 GCC - het . 3 +intronic DRAM1 chr12 102289561 102289561 G C het . 2 +intronic DRAM1 chr12 102295218 102295219 TC CT het . 15 +intronic PARPBP chr12 102541977 102541977 T - het . 7 +intergenic PMCH(dist=47789),IGF1(dist=150233) chr12 102639412 102639412 T C het . 2 +intergenic IGF1(dist=181653),LINC00485(dist=146985) chr12 103056076 103056076 G A het . 3 +intergenic IGF1(dist=289353),LINC00485(dist=39285) chr12 103163776 103163776 G A het . 1 +intronic PAH chr12 103245637 103245637 C A het . 10 +intronic PAH chr12 103245644 103245644 G T het . 9 +UTR5 PAH(NM_001354304:c.-71A>C,NM_000277:c.-71A>C) chr12 103310979 103310979 T G het . 13 +exonic ASCL1 chr12 103352172 103352174 GCA - het . 9 +intergenic LOC101929058(dist=33622),C12orf42(dist=100011) chr12 103595708 103595708 C A het . 2 +intronic C12orf42 chr12 103872362 103872366 TTTTT - het . 3 +intronic C12orf42 chr12 103872384 103872384 G T het . 3 +intronic STAB2 chr12 104064698 104064698 C T het . 1 +intronic STAB2 chr12 104122615 104122615 C A het . 11 +intronic STAB2 chr12 104131232 104131232 A T het . 1 +intronic NT5DC3 chr12 104179530 104179543 AAAAAAAAAAAAAA - het . 8 +intronic NT5DC3 chr12 104181034 104181034 G A het . 1 +intronic NT5DC3 chr12 104182836 104182836 T C het . 3 +intronic NT5DC3 chr12 104182857 104182857 G A het . 2 +exonic NT5DC3 chr12 104186946 104186946 G T het . 10 +ncRNA_intronic TTC41P chr12 104281054 104281054 G A het . 1 +UTR5 HSP90B1(NM_003299:c.-146G>A) chr12 104324148 104324148 G A het . 1 +intronic HSP90B1 chr12 104324526 104324527 AG - het . 3 +exonic HSP90B1 chr12 104332224 104332224 C T het . 17 +intronic HSP90B1 chr12 104337223 104337226 TAAT - het . 5 +intronic GLT8D2 chr12 104435427 104435427 T C het . 1 +intronic HCFC2 chr12 104492339 104492339 - A het . 6 +intergenic NFYB(dist=9069),TXNRD1(dist=68448) chr12 104541109 104541109 G T het . 1 +intronic TXNRD1 chr12 104663135 104663135 T C het . 2 +intergenic TXNRD1(dist=22918),CHST11(dist=83689) chr12 104767003 104767003 T C het . 2 +intergenic TXNRD1(dist=49233),CHST11(dist=57374) chr12 104793318 104793318 G A het . 2 +intronic CHST11 chr12 104988332 104988332 A C het . 1 +intergenic CHST11(dist=13133),SLC41A2(dist=27406) chr12 105168925 105168925 - CTC het . 4 +intronic ALDH1L2 chr12 105432020 105432021 TC - het . 9 +intronic ALDH1L2 chr12 105436188 105436188 G T het . 1 +intronic ALDH1L2 chr12 105440863 105440863 C T het . 11 +intronic ALDH1L2 chr12 105446552 105446552 T C het . 6 +intronic ALDH1L2 chr12 105477783 105477783 T C het . 2 +intronic WASHC4 chr12 105527385 105527385 G C het . 4 +intronic WASHC4 chr12 105538418 105538420 GTT - het . 28 +intronic WASHC4 chr12 105538479 105538479 T - het . 20 +intronic WASHC4 chr12 105540098 105540098 T C het . 7 +intronic WASHC4 chr12 105540322 105540322 - T het . 21 +intronic WASHC4 chr12 105545266 105545266 T - het . 2 +exonic WASHC4 chr12 105546172 105546172 G A het . 26 +intronic WASHC4 chr12 105550933 105550933 C A het . 17 +intronic WASHC4 chr12 105553720 105553720 - T het . 21 +exonic WASHC4 chr12 105560650 105560650 A G het . 44 +exonic APPL2 chr12 105601755 105601755 A G het . 25 +ncRNA_intronic CASC18 chr12 106100393 106100393 A G het . 3 +ncRNA_intronic CASC18 chr12 106100432 106100432 A C het . 1 +ncRNA_intronic CASC18 chr12 106111633 106111633 A G het . 1 +intergenic CASC18(dist=69164),NUAK1(dist=250120) chr12 106207005 106207005 G A het . 1 +intergenic CASC18(dist=236900),NUAK1(dist=82384) chr12 106374741 106374741 C T het . 2 +intergenic CASC18(dist=306568),NUAK1(dist=12716) chr12 106444409 106444409 A G het . 2 +downstream CKAP4(dist=956) chr12 106630703 106630703 C T het . 1 +downstream CKAP4(dist=935) chr12 106630724 106630724 C T het . 2 +intergenic CKAP4(dist=13167),TCP11L2(dist=41689) chr12 106654880 106654880 - AAAATAAAA het . 1 +intronic TCP11L2 chr12 106706036 106706038 TTT - het . 7 +intronic TCP11L2 chr12 106708278 106708278 T G het . 18 +UTR5 POLR3B(NM_001160708:c.-8573C>T) chr12 106751875 106751875 C T het . 4 +UTR5 POLR3B(NM_001160708:c.-8537_-8533del-) chr12 106751911 106751915 AGTGA - het . 4 +intronic POLR3B chr12 106815489 106815489 A T het . 2 +intronic POLR3B chr12 106820957 106820957 - T het . 11 +exonic POLR3B chr12 106895158 106895158 C A het . 21 +ncRNA_intronic LOC100287944 chr12 107080618 107080620 TTT - het . 4 +ncRNA_intronic LOC100287944 chr12 107080639 107080640 CC - het . 6 +ncRNA_intronic LOC100287944 chr12 107080962 107080962 A T het . 5 +ncRNA_intronic LOC100287944 chr12 107080964 107080964 A T het . 5 +ncRNA_intronic LOC100287944 chr12 107083031 107083031 G A het . 5 +intronic RIC8B chr12 107262946 107262946 C T het . 3 +intronic RIC8B chr12 107265277 107265277 C A het . 2 +splicing CRY1(NM_004075:exon7:c.1137+1G>T) chr12 107393328 107393328 C A het . 13 +intronic CRY1 chr12 107405749 107405749 C T het . 3 +intronic CRY1 chr12 107416068 107416068 A C het . 18 +intronic CRY1 chr12 107440071 107440071 A - het . 2 +intergenic CRY1(dist=178059),BTBD11(dist=46503) chr12 107665694 107665694 T - het . 6 +exonic BTBD11 chr12 107713696 107713696 G A het . 8 +intronic PWP1 chr12 108096532 108096532 T C het . 7 +intergenic ASCL4(dist=22930),LOC728739(dist=103576) chr12 108193351 108193351 C T het . 1 +intergenic ASCL4(dist=37138),LOC728739(dist=89368) chr12 108207559 108207559 A - het . 2 +intergenic ASCL4(dist=121540),LOC728739(dist=4966) chr12 108291961 108291961 G T het . 2 +intronic WSCD2 chr12 108573828 108573828 A - het . 2 +intronic CMKLR1 chr12 108713980 108713980 G T het . 2 +intergenic CMKLR1(dist=64474),LINC01498(dist=55634) chr12 108797568 108797568 C T het . 2 +intergenic LINC01498(dist=28346),FICD(dist=13239) chr12 108895812 108895812 T C het . 2 +intergenic LINC01498(dist=29147),FICD(dist=12438) chr12 108896613 108896613 A - het . 7 +upstream FICD(dist=67) chr12 108908984 108908984 G A het . 2 +intronic SART3 chr12 108917518 108917518 - T het . 3 +intronic SART3 chr12 108917520 108917520 G A het . 3 +exonic ISCU chr12 108956417 108956418 TT GG het . 9 +exonic ISCU chr12 108956433 108956433 C T het . 8 +intronic CORO1C chr12 109115688 109115688 T C het . 1 +exonic SSH1 chr12 109182049 109182049 T C het . 2 +intergenic SSH1(dist=5192),DAO(dist=17306) chr12 109256551 109256551 - T het . 4 +intronic DAO chr12 109277492 109277492 C A het . 4 +intronic SVOP chr12 109365702 109365702 T C het . 1 +ncRNA_exonic USP30-AS1 chr12 109490401 109490401 C T het . 7 +intronic UNG chr12 109541445 109541445 T - het . 19 +intronic UNG chr12 109547569 109547570 AA - het . 13 +intronic UNG chr12 109547586 109547586 A T het . 20 +exonic ACACB chr12 109617076 109617076 C A het . 20 +intronic ACACB chr12 109660550 109660550 C A het . 5 +exonic ACACB chr12 109660587 109660620 CATCCCTCCCCCTGCAGATCCTGATTGCCTCCCA - het . 13 +intronic ACACB chr12 109697388 109697388 - A het . 2 +intronic MYO1H chr12 109831351 109831351 T A het . 4 +intronic MYO1H chr12 109831356 109831356 C T het . 3 +intronic MYO1H chr12 109834614 109834614 G T het . 2 +intronic MYO1H chr12 109855630 109855630 - T het . 5 +intronic MYO1H chr12 109876886 109876886 T - het . 2 +intronic MYO1H chr12 109877328 109877339 CCACAGCCTCTA - het . 8 +exonic MYO1H chr12 109878603 109878603 C T het . 10 +intronic MYO1H chr12 109879292 109879292 T C het . 2 +intronic MYO1H chr12 109881198 109881198 C T het . 2 +intronic UBE3B chr12 109971100 109971100 C T het . 2 +intergenic UBE3B(dist=6109),MMAB(dist=10902) chr12 109980619 109980619 G A het . 2 +intergenic UBE3B(dist=12408),MMAB(dist=4603) chr12 109986918 109986918 C G het . 2 +intergenic UBE3B(dist=12425),MMAB(dist=4586) chr12 109986935 109986935 G A het . 2 +intronic MMAB chr12 109999005 109999005 G A het . 8 +intronic MMAB chr12 109999037 109999037 G A het . 7 +intronic MMAB chr12 109999068 109999068 G A het . 6 +intronic MMAB chr12 110006814 110006814 G T het . 18 +intronic MVK chr12 110013639 110013639 T G het . 2 +intronic MVK chr12 110023689 110023689 G A het . 3 +intronic MVK chr12 110028679 110028679 C T het . 28 +intergenic MVK(dist=54314),FAM222A(dist=62791) chr12 110089389 110089396 AAACAAAC - het . 2 +exonic FAM222A chr12 110206245 110206245 G A het . 10 +intronic TCHP chr12 110346357 110346357 A G het . 9 +intronic GIT2 chr12 110418635 110418635 A G het . 3 +exonic GIT2 chr12 110426804 110426804 C T het . 27 +intronic ANKRD13A chr12 110454086 110454086 T - het . 4 +intronic IFT81 chr12 110570265 110570265 A - het . 4 +intronic IFT81 chr12 110654325 110654325 T - het . 12 +intronic ATP2A2 chr12 110720352 110720352 T - het . 17 +intronic ATP2A2 chr12 110731182 110731182 T G het . 4 +intronic ATP2A2 chr12 110731186 110731186 T G het . 4 +intronic ATP2A2 chr12 110731190 110731190 T G het . 5 +intronic ATP2A2 chr12 110778343 110778343 - A het . 14 +intronic ANAPC7 chr12 110820575 110820575 T C het . 7 +intronic ANAPC7 chr12 110834321 110834321 - T het . 3 +intronic ARPC3 chr12 110873128 110873129 TT - het . 10 +exonic VPS29 chr12 110933851 110933851 C A het . 10 +UTR5 RAD9B(NM_001286533:c.-1411A>G,NM_001286534:c.-1411A>G) chr12 110949259 110949259 A G het . 15 +intronic RAD9B chr12 110949436 110949436 T C het . 4 +intronic TCTN1 chr12 111054060 111054061 TT - het . 10 +intronic PPP1CC chr12 111162070 111162070 C A het . 3 +intronic PPP1CC chr12 111168310 111168310 C A het . 13 +intergenic PPP1CC(dist=5909),CCDC63(dist=98072) chr12 111186692 111186692 A C het . 2 +intergenic LOC105369980(dist=49323),CUX2(dist=26883) chr12 111444945 111444945 T - het . 2 +intronic CUX2 chr12 111753947 111753947 T - het . 3 +exonic CUX2 chr12 111758235 111758237 TCC - het . 22 +exonic SH2B3 chr12 111856114 111856114 C T het . 12 +intronic ATXN2 chr12 111990677 111990677 C A het . 21 +intronic ATXN2 chr12 112019799 112019799 G T het . 1 +exonic ATXN2 chr12 112036797 112036797 C T het . 25 +exonic ACAD10 chr12 112185168 112185168 G A het . 16 +intronic ALDH2 chr12 112213485 112213485 C A het . 13 +intronic MAPKAPK5 chr12 112306513 112306513 T - het . 15 +ncRNA_exonic ADAM1A chr12 112337851 112337851 C A het . 20 +intronic NAA25 chr12 112515955 112515955 A - het . 16 +intronic HECTD4 chr12 112647676 112647676 C A het . 3 +exonic HECTD4 chr12 112681715 112681715 C A het . 30 +exonic PTPN11 chr12 112891006 112891006 C A het . 25 +intronic PTPN11 chr12 112891450 112891450 - T het . 1 +intronic PTPN11 chr12 112891467 112891467 G T het . 1 +intronic PTPN11 chr12 112893676 112893676 T - het . 8 +intronic RPH3A chr12 113089189 113089189 - AAAC het . 7 +intronic OAS3 chr12 113398828 113398828 C A het . 6 +intronic OAS3 chr12 113403497 113403497 G A het . 3 +intronic OAS2 chr12 113440921 113440921 T C het . 7 +intergenic OAS2(dist=4059),DTX1(dist=42075) chr12 113453587 113453587 C T het . 13 +intronic DTX1 chr12 113533346 113533346 G A het . 3 +intronic RASAL1 chr12 113544874 113544874 C T het . 1 +intronic RASAL1 chr12 113545787 113545787 A G het . 2 +exonic DDX54 chr12 113602085 113602085 G A het . 10 +exonic DDX54 chr12 113616793 113616793 C T het . 13 +intergenic SLC8B1(dist=12690),PLBD2(dist=10708) chr12 113785663 113785663 C T het . 2 +intronic SDSL chr12 113866959 113866959 G A het . 8 +intergenic LINC01234(dist=11641),RBM19(dist=31414) chr12 114223129 114223129 C T het . 1 +intergenic LINC01234(dist=14616),RBM19(dist=28439) chr12 114226104 114226104 C G het . 4 +intronic RBM19 chr12 114383559 114383559 A G het . 2 +UTR3 TBX5(NM_080717:c.*51_*50delAG,NM_000192:c.*51_*50delAG,NM_181486:c.*51_*50delAG) chr12 114793286 114793287 CT - het . 25 +intronic TBX5 chr12 114794057 114794057 T G het . 7 +intronic TBX5 chr12 114823187 114823187 G T het . 12 +intergenic TBX5-AS1(dist=153368),TBX3(dist=104054) chr12 115004005 115004005 T C het . 2 +intergenic TBX5-AS1(dist=177123),TBX3(dist=80297) chr12 115027760 115027762 TTT - het . 2 +intergenic TBX5-AS1(dist=191110),TBX3(dist=66303) chr12 115041747 115041756 AAAGAAAAGG - het . 2 +exonic TBX3 chr12 115110035 115110035 A C het . 6 +intergenic TBX3(dist=32039),MED13L(dist=1242373) chr12 115154008 115154008 T C het . 2 +intergenic TBX3(dist=32048),MED13L(dist=1242361) chr12 115154017 115154020 AAAT - het . 2 +intergenic TBX3(dist=515062),MED13L(dist=759350) chr12 115637031 115637031 A G het . 2 +intergenic TBX3(dist=772221),MED13L(dist=502191) chr12 115894190 115894190 G A het . 2 +intergenic TBX3(dist=798051),MED13L(dist=476361) chr12 115920020 115920020 A T het . 3 +intergenic TBX3(dist=1152808),MED13L(dist=121604) chr12 116274777 116274777 A T het . 1 +intronic MED13L chr12 116412921 116412922 AT TC het . 18 +exonic MED13L chr12 116420372 116420372 C A het . 29 +exonic MED13L chr12 116429247 116429247 T C het . 41 +intronic MED13L chr12 116488755 116488755 A C het . 1 +ncRNA_exonic MIR620 chr12 116586415 116586416 TA - het . 9 +intronic MED13L chr12 116651169 116651169 C T het . 3 +intronic MED13L chr12 116675100 116675100 - A het . 6 +intergenic MED13L(dist=82757),MIR4472-2(dist=68309) chr12 116797748 116797748 - CTTC het . 2 +intergenic MED13L(dist=146771),MIR4472-2(dist=4295) chr12 116861762 116861762 T - het . 7 +intergenic MED13L(dist=146775),MIR4472-2(dist=4291) chr12 116861766 116861766 T G het . 8 +intergenic MAP1LC3B2(dist=42467),C12orf49(dist=94256) chr12 117056865 117056869 AAAGA - het . 3 +intronic RNFT2 chr12 117205144 117205144 T C het . 2 +intronic FBXW8 chr12 117434317 117434317 - AA het . 2 +intronic FBXO21 chr12 117626409 117626409 C G het . 2 +intronic NOS1 chr12 117665544 117665544 A C het . 2 +intronic NOS1 chr12 117691409 117691409 C T het . 6 +intronic NOS1 chr12 117698536 117698536 C T het . 5 +intronic NOS1 chr12 117698557 117698557 C G het . 3 +intronic KSR2 chr12 118148977 118148977 G A het . 2 +intronic KSR2 chr12 118148997 118148997 G A het . 3 +intronic KSR2 chr12 118162380 118162386 CCTGCCC - het . 3 +intronic KSR2 chr12 118162393 118162397 CCCCG - het . 3 +upstream KSR2(dist=84) chr12 118406112 118406112 A - het . 2 +intergenic KSR2(dist=10721),RFC5(dist=37717) chr12 118416749 118416749 G C het . 2 +intronic VSIG10 chr12 118508346 118508346 C T het . 4 +intronic VSIG10 chr12 118509157 118509157 T C het . 10 +exonic VSIG10 chr12 118509191 118509191 G A het . 13 +intronic PEBP1 chr12 118577117 118577119 AAA - het . 4 +intronic TAOK3 chr12 118673483 118673483 - A het . 10 +intronic TAOK3 chr12 118681158 118681158 T A het . 11 +intergenic SUDS3(dist=70845),LINC02423(dist=269874) chr12 118926685 118926685 T G het . 2 +intergenic LINC02423(dist=42621),LINC02439(dist=14506) chr12 119242105 119242106 AT - het . 2 +intergenic LINC02439(dist=15335),SRRM4(dist=132624) chr12 119286676 119286676 G A het . 2 +intergenic LINC02439(dist=27402),SRRM4(dist=120557) chr12 119298743 119298743 C T het . 3 +UTR5 SRRM4(NM_194286:c.-85G>C) chr12 119419603 119419603 G C het . 12 +intronic SRRM4 chr12 119471468 119471468 A - het . 2 +intronic CCDC60 chr12 119864162 119864162 G T het . 2 +intronic CCDC60 chr12 119864166 119864166 T G het . 2 +intronic CCDC60 chr12 119888673 119888673 - AG het . 3 +exonic TMEM233 chr12 120067669 120067669 C A het . 11 +intronic TMEM233 chr12 120078474 120078475 TC - het . 12 +intronic PRKAB1 chr12 120110057 120110057 T A het . 5 +intronic CIT chr12 120270528 120270528 T C het . 6 +intronic CIT chr12 120270567 120270567 T - het . 14 +upstream BICDL1(dist=382) chr12 120427266 120427266 - GCAGCA het . 2 +intronic GCN1 chr12 120569191 120569191 C A het . 3 +intronic GCN1 chr12 120576265 120576265 T C het . 6 +exonic GCN1 chr12 120587836 120587836 C A het . 12 +intronic GCN1 chr12 120613345 120613345 A G het . 2 +intergenic PXN(dist=16838),SIRT4(dist=19712) chr12 120720412 120720412 C A het . 17 +upstream SIRT4(dist=959) chr12 120739163 120739165 AAC - het . 4 +intronic MSI1 chr12 120791197 120791197 G A het . 6 +intronic MSI1 chr12 120797128 120797128 G A het . 1 +intronic SRSF9 chr12 120902007 120902007 T C het . 2 +intronic COQ5 chr12 120945165 120945165 A G het . 1 +intronic COQ5 chr12 120966659 120966659 G A het . 6 +intronic RNF10 chr12 120995332 120995332 G A het . 7 +intronic RNF10 chr12 121000718 121000718 C T het . 10 +exonic POP5 chr12 121017171 121017171 A G het . 22 +intronic CABP1 chr12 121093630 121093635 GTGCGT - het . 5 +intronic ACADS chr12 121169436 121169436 A T het . 2 +intronic ACADS chr12 121173702 121173706 AAAAT - het . 3 +UTR3 SPPL3(NM_139015:c.*138T>G) chr12 121202664 121202664 A C het . 3 +intronic SPPL3 chr12 121222411 121222411 C G het . 8 +intronic SPPL3 chr12 121323959 121323959 A T het . 3 +intergenic XLOC_009911(dist=11817),HNF1A-AS1(dist=49947) chr12 121357694 121357694 G A het . 2 +intronic C12orf43 chr12 121444027 121444027 A - het . 7 +intronic P2RX7 chr12 121603826 121603829 TGTT - het . 13 +intronic P2RX7 chr12 121603856 121603856 C G het . 16 +exonic CAMKK2 chr12 121678328 121678329 TT - het . 28 +intronic CAMKK2 chr12 121690548 121690548 T C het . 6 +intronic CAMKK2 chr12 121690555 121690555 T C het . 6 +intronic ANAPC5 chr12 121764799 121764799 A C het . 2 +intronic ANAPC5 chr12 121768248 121768248 C T het . 3 +exonic ANAPC5 chr12 121768393 121768393 C A het . 10 +intronic ANAPC5 chr12 121786472 121786472 A T het . 2 +intronic KDM2B chr12 121919536 121919536 T G het . 8 +intronic KDM2B chr12 121954670 121954670 - A het . 11 +intronic KDM2B chr12 122017895 122017896 AA - het . 2 +intergenic KDM2B(dist=6527),MIR548AQ(dist=8987) chr12 122025447 122025447 A G het . 2 +intergenic KDM2B(dist=6550),MIR548AQ(dist=8964) chr12 122025470 122025470 - A het . 2 +intergenic MORN3(dist=2030),TMEM120B(dist=38072) chr12 122112585 122112586 AA - het . 3 +exonic SETD1B chr12 122247828 122247828 A G het . 19 +intronic HPD chr12 122296543 122296543 A C het . 16 +exonic WDR66 chr12 122359408 122359408 G A het . 13 +exonic WDR66 chr12 122359412 122359412 G A het . 13 +intronic WDR66 chr12 122386604 122386604 C T het . 4 +exonic BCL7A chr12 122492878 122492878 C A het . 12 +exonic MLXIP chr12 122612497 122612497 C T het . 8 +intronic MLXIP chr12 122615515 122615515 C G het . 4 +exonic MLXIP chr12 122618131 122618131 A G het . 4 +UTR5 B3GNT4(NM_030765:c.-57_-56insCCG) chr12 122689109 122689109 - CCG het . 12 +intronic CLIP1 chr12 122821043 122821043 C A het . 5 +intronic CLIP1 chr12 122837142 122837142 A C het . 6 +intronic CLIP1 chr12 122843004 122843004 - A het . 2 +intronic ZCCHC8 chr12 122966017 122966017 A - het . 3 +intronic RSRC2 chr12 122990332 122990332 T - het . 11 +intronic RSRC2 chr12 122990369 122990369 C A het . 8 +intronic RSRC2 chr12 122999129 122999129 A - het . 7 +intronic RSRC2 chr12 123003317 123003317 T C het . 5 +intronic KNTC1 chr12 123024333 123024333 T - het . 12 +exonic KNTC1 chr12 123057559 123057559 C A het . 27 +intronic KNTC1 chr12 123067169 123067169 - A het . 4 +intronic KNTC1 chr12 123071365 123071366 AT TA het . 6 +intronic KNTC1 chr12 123087820 123087820 A - het . 3 +intergenic KNTC1(dist=39183),HCAR2(dist=35711) chr12 123150129 123150129 - TCTTT het . 2 +intergenic HCAR1(dist=1285),DENR(dist=20954) chr12 123216414 123216414 C A het . 2 +intronic DENR chr12 123246767 123246767 T - het . 20 +intronic CCDC62 chr12 123282532 123282532 G A het . 5 +intronic CCDC62 chr12 123296990 123296990 A - het . 2 +intronic CCDC62 chr12 123308087 123308087 A G het . 14 +upstream HIP1R(dist=375) chr12 123318883 123318887 GGAAA - het . 2 +intronic HIP1R chr12 123339712 123339712 A G het . 6 +intronic HIP1R chr12 123343371 123343371 A C het . 13 +exonic VPS37B chr12 123351904 123351904 C T het . 3 +intronic MPHOSPH9 chr12 123651018 123651018 T C het . 8 +intronic MPHOSPH9 chr12 123703074 123703074 - T het . 19 +intronic MPHOSPH9 chr12 123703103 123703103 T C het . 19 +intronic MPHOSPH9 chr12 123707528 123707529 TA - het . 11 +intronic MPHOSPH9 chr12 123707553 123707553 A - het . 17 +intronic CDK2AP1 chr12 123749915 123749915 T G het . 16 +intronic SBNO1 chr12 123800071 123800071 C A het . 17 +exonic SBNO1 chr12 123810873 123810873 G A het . 3 +intronic SBNO1 chr12 123821234 123821234 T A het . 3 +intronic SBNO1 chr12 123823079 123823079 G A het . 1 +intergenic SBNO1(dist=16349),KMT5A(dist=2557) chr12 123866105 123866106 TT - het . 2 +upstream SNRNP35(dist=831) chr12 123941820 123941820 T C het . 4 +upstream SNRNP35(dist=787) chr12 123941864 123941864 T C het . 3 +intronic RILPL1 chr12 123988548 123988549 AA - het . 3 +intronic RILPL1 chr12 124005129 124005129 A C het . 4 +intergenic MIR3908(dist=22215),LOC101927415(dist=22317) chr12 124043296 124043296 C G het . 3 +upstream LOC101927415,TMED2(dist=8) chr12 124069068 124069068 C A het . 4 +UTR5 TMED2(NM_006815:c.-72_-70del-,NM_001321445:c.-72_-70del-) chr12 124069112 124069114 GGC - het . 5 +intronic DDX55 chr12 124096845 124096845 G A het . 2 +exonic EIF2B1 chr12 124107281 124107281 C A het . 39 +intronic EIF2B1 chr12 124116833 124116833 G - het . 6 +intronic GTF2H3 chr12 124126064 124126064 G A het . 1 +intronic GTF2H3 chr12 124144573 124144573 T - het . 15 +exonic TCTN2 chr12 124172721 124172721 G A het . 22 +intronic TCTN2 chr12 124172746 124172746 T C het . 11 +intronic TCTN2 chr12 124172761 124172761 T - het . 7 +intronic ATP6V0A2 chr12 124197334 124197334 C T het . 11 +intronic ATP6V0A2 chr12 124242391 124242391 T - het . 14 +intronic DNAH10 chr12 124321725 124321725 - A het . 3 +intronic DNAH10 chr12 124345743 124345743 A T het . 11 +intronic DNAH10 chr12 124379469 124379469 G A het . 7 +intronic DNAH10 chr12 124414100 124414100 G A het . 10 +intronic ZNF664-RFLNA chr12 124588897 124588909 TTTCTTTTTTTTT - het . 3 +intronic ZNF664-RFLNA chr12 124650708 124650708 G A het . 2 +intronic ZNF664-RFLNA chr12 124743155 124743155 G A het . 1 +exonic NCOR2 chr12 124824721 124824721 - GCCGCTGCT het . 8 +intronic NCOR2 chr12 124882760 124882760 C A het . 19 +exonic NCOR2 chr12 124887058 124887058 - GCT het . 20 +intronic NCOR2 chr12 124892085 124892085 A G het . 2 +intergenic NCOR2(dist=41870),SCARB1(dist=168294) chr12 125093880 125093880 T C het . 2 +downstream SCARB1(dist=733) chr12 125261441 125261441 G A het . 2 +downstream SCARB1(dist=70) chr12 125262104 125262104 G A het . 2 +intronic DHX37 chr12 125453232 125453232 A G het . 7 +intronic DHX37 chr12 125453235 125453235 C A het . 6 +splicing DHX37(NM_032656:exon7:c.1077+1G>T) chr12 125457048 125457048 C A het . 17 +intronic AACS chr12 125588578 125588578 T G het . 4 +intronic TMEM132B chr12 125840037 125840037 C G het . 1 +intronic TMEM132B chr12 125912763 125912763 C T het . 2 +intronic TMEM132B chr12 125925389 125925389 A G het . 1 +intronic TMEM132B chr12 126128871 126128871 T C het . 2 +intronic TMEM132B chr12 126135195 126135195 A G het . 4 +exonic TMEM132B chr12 126135373 126135373 C A het . 25 +exonic TMEM132B chr12 126138247 126138247 C T het . 27 +intergenic TMEM132B(dist=16476),LINC00939(dist=279835) chr12 126163399 126163399 C T het . 3 +intergenic LINC02359(dist=137913),LOC283435(dist=158947) chr12 126726391 126726391 A G het . 1 +ncRNA_intronic LINC02347 chr12 126937469 126937469 T C het . 1 +intergenic LINC02347(dist=37581),LOC100996671(dist=142580) chr12 126994912 126994912 C T het . 6 +intergenic LINC02347(dist=37582),LOC100996671(dist=142579) chr12 126994913 126994913 G A het . 6 +intergenic LINC02347(dist=37615),LOC100996671(dist=142546) chr12 126994946 126994946 C T het . 8 +intergenic LOC100996671(dist=9859),LINC00944(dist=30524) chr12 127184723 127184723 C G het . 1 +intergenic LOC100996671(dist=9875),LINC00944(dist=30508) chr12 127184739 127184739 A G het . 2 +intergenic LOC100996671(dist=17564),LINC00944(dist=22819) chr12 127192428 127192428 A C het . 4 +ncRNA_intronic LINC02405 chr12 127470381 127470381 G A het . 2 +intergenic LINC02376(dist=7100),LINC02375(dist=32772) chr12 127775928 127775928 T A het . 2 +intergenic LINC02376(dist=36252),LINC02375(dist=3620) chr12 127805080 127805080 A T het . 2 +intergenic LINC02375(dist=68050),LINC02411(dist=223147) chr12 127892667 127892667 C A het . 4 +intergenic LINC02375(dist=93328),LINC02411(dist=197869) chr12 127917945 127917945 A - het . 2 +intergenic LINC02375(dist=110275),LINC02411(dist=180922) chr12 127934892 127934892 T G het . 2 +intergenic LINC02375(dist=110295),LINC02411(dist=180902) chr12 127934912 127934912 T G het . 2 +intergenic LINC02375(dist=138416),LINC02411(dist=152781) chr12 127963033 127963033 A T het . 3 +intergenic LINC02375(dist=154597),LINC02411(dist=136600) chr12 127979214 127979214 G A het . 3 +intergenic LINC02375(dist=154611),LINC02411(dist=136586) chr12 127979228 127979228 G A het . 4 +intergenic LINC02375(dist=157756),LINC02411(dist=133441) chr12 127982373 127982373 C T het . 2 +intergenic LINC02375(dist=254825),LINC02411(dist=36372) chr12 128079442 128079442 C T het . 3 +intergenic LINC02375(dist=284317),LINC02411(dist=6880) chr12 128108934 128108934 G A het . 3 +intergenic LINC02375(dist=287499),LINC02411(dist=3698) chr12 128112116 128112116 A - het . 3 +intergenic LINC02441(dist=5181),LINC02369(dist=54636) chr12 128516892 128516892 C A het . 1 +intergenic LINC02368(dist=114746),TMEM132C(dist=30705) chr12 128721243 128721243 A G het . 1 +intronic TMEM132C chr12 128785587 128785587 A G het . 2 +intronic TMEM132C chr12 128789184 128789184 - AG het . 2 +intronic TMEM132C chr12 128789195 128789195 G C het . 2 +intronic TMEM132C chr12 128839089 128839089 C A het . 3 +intronic TMEM132C chr12 129007740 129007740 A G het . 1 +intronic TMEM132C chr12 129007744 129007744 G C het . 2 +intronic TMEM132C chr12 129007757 129007757 G A het . 2 +intronic TMEM132C chr12 129172689 129172689 G A het . 2 +intergenic TMEM132C(dist=14233),SLC15A4(dist=71046) chr12 129206693 129206693 C T het . 2 +intergenic TMEM132C(dist=52228),SLC15A4(dist=33051) chr12 129244688 129244688 T C het . 1 +intronic SLC15A4 chr12 129285628 129285628 C A het . 5 +intronic SLC15A4 chr12 129294072 129294072 T G het . 6 +intronic GLT1D1 chr12 129429790 129429790 C A het . 13 +intergenic GLT1D1(dist=6027),TMEM132D(dist=80735) chr12 129475536 129475536 C T het . 4 +intergenic GLT1D1(dist=6040),TMEM132D(dist=80722) chr12 129475549 129475549 A T het . 3 +exonic TMEM132D chr12 129558537 129558537 G A het . 15 +intronic TMEM132D chr12 129566285 129566285 T - het . 2 +intronic TMEM132D chr12 129722818 129722818 C T het . 1 +intronic TMEM132D chr12 129727377 129727377 G A het . 2 +intronic TMEM132D chr12 129727392 129727392 G T het . 2 +intronic TMEM132D chr12 129829456 129829456 G T het . 2 +intronic TMEM132D chr12 129998347 129998347 - TTTT het . 2 +intronic TMEM132D chr12 130150034 130150034 G A het . 1 +intronic TMEM132D chr12 130150044 130150044 T C het . 1 +intronic TMEM132D chr12 130192776 130192776 - A het . 2 +intergenic TMEM132D(dist=66775),LINC02418(dist=63370) chr12 130454987 130454987 C A het . 2 +intergenic TMEM132D(dist=66824),LINC02418(dist=63321) chr12 130455036 130455036 C A het . 1 +ncRNA_exonic LINC02418 chr12 130521306 130521306 G C het . 3 +intergenic LINC02418(dist=19957),LINC02419(dist=9036) chr12 130546844 130546844 A G het . 1 +intergenic LINC02419(dist=39254),FZD10-DT(dist=39654) chr12 130596484 130596484 C G het . 2 +intergenic FZD10(dist=154780),PIWIL1(dist=17368) chr12 130805065 130805065 T G het . 2 +exonic PIWIL1 chr12 130855800 130855800 A G het . 20 +intronic RIMBP2 chr12 130963266 130963266 A G het . 2 +intronic RIMBP2 chr12 131193123 131193124 AA TC het . 2 +intergenic RIMBP2(dist=50509),STX2(dist=22786) chr12 131251359 131251359 T C het . 1 +intronic RAN chr12 131359298 131359298 C A het . 9 +intergenic RAN(dist=47003),ADGRD1(dist=29224) chr12 131409226 131409228 TCT - het . 3 +exonic ADGRD1 chr12 131475607 131475607 C A het . 11 +intronic ADGRD1 chr12 131507408 131507408 C T het . 2 +intronic ADGRD1 chr12 131507425 131507425 A G het . 2 +intronic ADGRD1 chr12 131546584 131546584 T G het . 2 +intronic ADGRD1 chr12 131569234 131569234 G A het . 3 +intergenic LINC02414(dist=1181),SFSWAP(dist=61785) chr12 132133847 132133847 T C het . 2 +exonic SFSWAP chr12 132204043 132204043 G A het . 26 +exonic SFSWAP chr12 132271113 132271113 T C het . 4 +intronic SFSWAP chr12 132283925 132283925 G A het . 8 +intronic MMP17 chr12 132326032 132326032 C A het . 1 +intronic MMP17 chr12 132326051 132326051 C T het . 2 +intronic ULK1 chr12 132384831 132384831 C T het . 2 +intronic ULK1 chr12 132384834 132384834 G T het . 2 +exonic ULK1 chr12 132393191 132393191 A T het . 6 +intergenic ULK1(dist=2538),PUS1(dist=3500) chr12 132410245 132410245 C A het . 2 +exonic EP400 chr12 132547094 132547096 CAG - het . 16 +exonic NOC4L chr12 132636159 132636159 C T het . 11 +intronic GALNT9 chr12 132811399 132811399 A G het . 5 +intronic GALNT9 chr12 132811652 132811652 T C het . 3 +intergenic LOC101928416(dist=9670),FBRSL1(dist=149326) chr12 132917831 132917831 G A het . 3 +intergenic LOC101928416(dist=27217),FBRSL1(dist=131779) chr12 132935378 132935378 C T het . 3 +intronic FBRSL1 chr12 133104461 133104461 A G het . 9 +intronic POLE chr12 133201442 133201445 GGAG - het . 6 +intronic POLE chr12 133201448 133201452 CAAGG - het . 6 +intronic POLE chr12 133202004 133202004 C T het . 10 +intronic POLE chr12 133212692 133212692 T C het . 4 +intronic POLE chr12 133212737 133212737 C T het . 4 +intronic POLE chr12 133235577 133235577 A C het . 4 +intronic POLE chr12 133241144 133241144 C A het . 6 +intronic POLE chr12 133257930 133257930 T - het . 9 +intronic POLE chr12 133263825 133263825 G A het . 14 +intronic PXMP2 chr12 133278075 133278075 G T het . 4 +intronic ANKLE2 chr12 133304819 133304819 T - het . 7 +intronic ANKLE2 chr12 133311888 133311888 C G het . 5 +intronic ANKLE2 chr12 133318422 133318422 A T het . 21 +intronic GOLGA3 chr12 133363376 133363376 G T het . 8 +intronic GOLGA3 chr12 133371955 133371955 A G het . 2 +intronic GOLGA3 chr12 133379670 133379671 AA - het . 2 +intronic GOLGA3 chr12 133396122 133396122 G A het . 2 +intronic GOLGA3 chr12 133402392 133402394 TAC - het . 23 +intronic CHFR chr12 133447195 133447195 G A het . 8 +intronic ZNF891 chr12 133702160 133702160 T C het . 2 +intronic ZNF268 chr12 133761208 133761211 TTTG - het . 4 +intronic ZNF268 chr12 133763253 133763253 T C het . 1 +intronic ZNF268 chr12 133772834 133772834 G - het . 2 +intergenic NONE(dist=NONE),LINC00417(dist=57549) chr13 19254691 19254691 C T het . 4 +ncRNA_intronic ANKRD20A9P chr13 19419847 19419847 C A het . 18 +intergenic ANKRD20A9P(dist=1416),LINC00408(dist=32052) chr13 19447523 19447527 TATAT - het . 3 +ncRNA_intronic LINC00408 chr13 19498013 19498013 A - het . 2 +intergenic LINC00408(dist=66595),LINC00442(dist=14923) chr13 19567476 19567476 G A het . 1 +intergenic LINC00442(dist=29371),LOC107984132(dist=32026) chr13 19616145 19616148 TGTT - het . 2 +intergenic LINC00442(dist=29406),LOC107984132(dist=31994) chr13 19616180 19616180 C A het . 2 +intergenic LINC00442(dist=40240),LOC107984132(dist=21160) chr13 19627014 19627014 A C het . 2 +intergenic LINC00442(dist=40246),LOC107984132(dist=21154) chr13 19627020 19627020 A C het . 2 +intergenic LINC00442(dist=60275),LOC107984132(dist=1125) chr13 19647049 19647049 G A het . 1 +intergenic LINC00442(dist=60287),LOC107984132(dist=1113) chr13 19647061 19647061 C A het . 1 +intergenic LOC107984132(dist=8555),TUBA3C(dist=46932) chr13 19700978 19700978 A G het . 3 +intergenic LOC107984132(dist=37078),TUBA3C(dist=18409) chr13 19729501 19729501 G C het . 6 +intergenic LOC107984132(dist=46270),TUBA3C(dist=9217) chr13 19738693 19738693 A G het . 2 +intergenic LOC107984132(dist=52718),TUBA3C(dist=2769) chr13 19745141 19745141 T G het . 3 +intronic TUBA3C chr13 19755822 19755822 G A het . 8 +ncRNA_intronic LOC101928697 chr13 19756789 19756789 - AA het . 1 +ncRNA_intronic LOC101928697 chr13 19756801 19756801 G A het . 1 +ncRNA_intronic LOC101928697 chr13 19761246 19761246 - T het . 10 +intergenic LOC101928697(dist=11254),ANKRD26P3(dist=64081) chr13 19772859 19772859 G A het . 1 +intergenic LOC101928697(dist=11260),ANKRD26P3(dist=64075) chr13 19772865 19772865 C A het . 1 +intergenic LOC101928697(dist=33466),ANKRD26P3(dist=41868) chr13 19795071 19795072 AC CA het . 2 +ncRNA_intronic ANKRD26P3 chr13 19868665 19868665 T C het . 2 +ncRNA_intronic ANKRD26P3 chr13 19879737 19879737 G A het . 10 +ncRNA_intronic ANKRD26P3 chr13 19879767 19879767 G A het . 5 +intergenic LINC00421(dist=3498),TPTE2(dist=72632) chr13 19924387 19924387 - A het . 4 +intergenic LINC00421(dist=68449),TPTE2(dist=7681) chr13 19989338 19989338 G A het . 13 +exonic TPTE2 chr13 20000630 20000630 T C het . 14 +intronic TPTE2 chr13 20041563 20041563 C T het . 6 +exonic TPTE2 chr13 20048214 20048214 T G het . 4 +intronic TPTE2 chr13 20067823 20067823 C A het . 6 +intronic TPTE2 chr13 20069145 20069145 T C het . 4 +intergenic TPTE2(dist=23918),LINC00350(dist=26436) chr13 20134821 20134822 TT GC het . 4 +intergenic TPTE2(dist=28852),LINC00350(dist=21503) chr13 20139755 20139755 A G het . 6 +intergenic TPTE2(dist=30182),LINC00350(dist=20173) chr13 20141085 20141085 T A het . 1 +intergenic TPTE2(dist=34623),LINC00350(dist=15732) chr13 20145526 20145526 A - het . 2 +intergenic LINC00350(dist=41207),MPHOSPH8(dist=3951) chr13 20203837 20203837 C T het . 2 +intronic MPHOSPH8 chr13 20208136 20208136 G A het . 7 +exonic MPHOSPH8 chr13 20220588 20220588 A G het . 9 +UTR3 MPHOSPH8(NM_017520:c.*1156A>G) chr13 20247171 20247171 A G het . 15 +UTR3 MPHOSPH8(NM_017520:c.*1180delA) chr13 20247195 20247195 A - het . 11 +UTR3 MPHOSPH8(NM_017520:c.*1213G>T) chr13 20247228 20247228 G T het . 20 +UTR3 MPHOSPH8(NM_017520:c.*1224_*1225delTT) chr13 20247239 20247240 TT - het . 20 +intronic PSPC1 chr13 20309180 20309180 G A het . 2 +intronic PSPC1 chr13 20325368 20325368 A - het . 8 +intronic PSPC1 chr13 20342508 20342508 A C het . 2 +intergenic PSPC1(dist=29575),ZMYM5(dist=10873) chr13 20386751 20386751 C T het . 1 +intronic ZMYM5 chr13 20405268 20405268 - T het . 3 +intergenic ZMYM5(dist=16762),ZMYM2(dist=77008) chr13 20454538 20454538 A G het . 2 +intergenic ZMYM5(dist=71132),ZMYM2(dist=22630) chr13 20508908 20508916 TTTCTTTTT - het . 2 +intronic ZMYM2 chr13 20575810 20575810 T A het . 2 +intronic ZMYM2 chr13 20600976 20600976 G - het . 4 +intronic ZMYM2 chr13 20608354 20608354 - TTTCTTGAGGTG het . 3 +intergenic LINC01072(dist=8854),GJA3(dist=26172) chr13 20686223 20686223 - A het . 2 +intronic GJA3 chr13 20733632 20733632 G A het . 2 +exonic GJB2 chr13 20763264 20763264 C T het . 27 +intronic GJB6 chr13 20802594 20802595 TC GT het . 2 +intergenic GJB6(dist=112309),CRYL1(dist=58963) chr13 20918843 20918843 A G het . 1 +intronic CRYL1 chr13 20987728 20987728 A G het . 1 +intronic CRYL1 chr13 21096690 21096690 T C het . 2 +intergenic CRYL1(dist=4204),IFT88(dist=36739) chr13 21104216 21104216 C T het . 2 +intergenic CRYL1(dist=4216),IFT88(dist=36727) chr13 21104228 21104228 A G het . 1 +intronic IFT88 chr13 21170193 21170193 - TAAAA het . 7 +intronic IFT88 chr13 21190223 21190223 C A het . 2 +intronic IFT88 chr13 21193001 21193001 T - het . 2 +intronic IFT88 chr13 21205310 21205310 C T het . 11 +intronic IFT88 chr13 21229627 21229627 C T het . 2 +intronic EEF1AKMT1 chr13 21326587 21326587 T G het . 2 +intronic XPO4 chr13 21384265 21384265 - AGTTT het . 4 +upstream LINC00367(dist=651) chr13 21524218 21524218 G T het . 2 +upstream LINC00367(dist=667) chr13 21524234 21524234 C T het . 2 +intronic LATS2 chr13 21555544 21555545 CT GA het . 2 +intronic LATS2 chr13 21555554 21555554 G A het . 2 +exonic LATS2 chr13 21562887 21562887 C A het . 6 +intergenic LATS2(dist=42746),SAP18(dist=36185) chr13 21678468 21678468 T C het . 3 +intergenic LATS2(dist=48577),SAP18(dist=30354) chr13 21684299 21684299 G C het . 3 +intronic SKA3 chr13 21736133 21736133 C T het . 5 +intronic SKA3 chr13 21741468 21741468 - TT het . 2 +intronic SKA3 chr13 21741482 21741482 A G het . 1 +intronic SKA3 chr13 21746960 21746976 TACCATATTTTTTACCG - het . 2 +intergenic MRPL57(dist=37509),LINC01046(dist=17978) chr13 21790729 21790729 A G het . 11 +ncRNA_intronic MIPEPP3 chr13 21873810 21873810 A G het . 6 +ncRNA_exonic GRK6P1 chr13 21894445 21894445 T C het . 6 +ncRNA_exonic GRK6P1 chr13 21894803 21894803 T C het . 4 +ncRNA_exonic GRK6P1 chr13 21894824 21894824 G C het . 8 +intronic ZDHHC20 chr13 21978222 21978222 C A het . 4 +intronic ZDHHC20 chr13 21988038 21988038 - CTT het . 15 +intronic ZDHHC20 chr13 21988040 21988040 - CTGT het . 15 +intronic ZDHHC20 chr13 21988041 21988041 A T het . 14 +intergenic ZDHHC20(dist=8681),MICU2(dist=24638) chr13 22042190 22042190 T A het . 3 +intergenic ZDHHC20(dist=24614),MICU2(dist=8705) chr13 22058123 22058123 G T het . 20 +intergenic ZDHHC20(dist=27532),MICU2(dist=5787) chr13 22061041 22061041 C T het . 2 +UTR3 MICU2(NM_152726:c.*152T>G) chr13 22067236 22067236 A C het . 4 +intronic MICU2 chr13 22089949 22089949 G A het . 4 +intronic MICU2 chr13 22096611 22096611 T G het . 5 +intronic MICU2 chr13 22157113 22157113 G A het . 2 +intergenic LINC00424(dist=326476),LINC00540(dist=5649) chr13 22778775 22778775 C A het . 2 +intergenic LINC00540(dist=35965),LINC00621(dist=563907) chr13 22886624 22886624 C T het . 2 +intergenic LINC00540(dist=101654),LINC00621(dist=498218) chr13 22952313 22952313 G A het . 1 +intergenic LINC00540(dist=255379),LINC00621(dist=344493) chr13 23106038 23106038 A T het . 3 +intergenic LINC00540(dist=255389),LINC00621(dist=344483) chr13 23106048 23106048 T A het . 3 +intergenic LINC00540(dist=269095),LINC00621(dist=330777) chr13 23119754 23119754 A G het . 1 +intergenic LINC00540(dist=469598),LINC00621(dist=130274) chr13 23320257 23320257 T - het . 2 +intergenic LINC00540(dist=535356),LINC00621(dist=64516) chr13 23386015 23386015 A C het . 1 +intergenic LINC00540(dist=584029),LINC00621(dist=15840) chr13 23434688 23434691 AAAC - het . 2 +intergenic LINC00621(dist=21601),SGCG(dist=242951) chr13 23512109 23512109 C T het . 2 +intergenic LINC00621(dist=93151),SGCG(dist=171401) chr13 23583659 23583659 T C het . 2 +intergenic LINC00621(dist=191497),SGCG(dist=73055) chr13 23682005 23682005 A G het . 2 +intergenic LINC00621(dist=191619),SGCG(dist=72933) chr13 23682127 23682127 C T het . 2 +intergenic LINC00621(dist=242768),SGCG(dist=21784) chr13 23733276 23733276 G C het . 6 +intronic SGCG chr13 23762620 23762624 TTTTT - het . 2 +intronic SGCG chr13 23762640 23762640 T G het . 2 +intronic SGCG chr13 23762641 23762641 - GGG het . 2 +intronic SGCG chr13 23808450 23808450 C G het . 5 +intronic SGCG chr13 23808468 23808468 A T het . 4 +intronic SGCG chr13 23808623 23808623 - TATT het . 7 +intronic SGCG chr13 23808959 23808959 C T het . 10 +intronic SGCG chr13 23856853 23856853 T - het . 2 +exonic SACS chr13 23929077 23929077 C A het . 20 +intergenic LINC00327(dist=52242),TNFRSF19(dist=30664) chr13 24113845 24113845 C T het . 1 +intronic TNFRSF19 chr13 24190720 24190720 - TTG het . 3 +intronic TNFRSF19 chr13 24190732 24190732 C T het . 4 +exonic TNFRSF19 chr13 24234517 24234517 A G het . 3 +intergenic TNFRSF19(dist=40377),MIPEP(dist=13707) chr13 24290621 24290621 T C het . 1 +intronic MIPEP chr13 24410278 24410278 G A het . 3 +intronic MIPEP chr13 24436230 24436230 C T het . 2 +intronic MIPEP chr13 24450964 24450964 G C het . 2 +ncRNA_intronic ANKRD20A19P chr13 24483401 24483401 - G het . 8 +ncRNA_intronic ANKRD20A19P chr13 24515388 24515388 T G het . 4 +intronic SPATA13 chr13 24589206 24589206 G A het . 2 +intronic SPATA13 chr13 24611539 24611542 TACT - het . 2 +intronic SPATA13 chr13 24845131 24845132 CT - het . 8 +intronic PARP4 chr13 25016230 25016230 C T het . 6 +exonic PARP4 chr13 25021245 25021245 A G het . 8 +exonic PARP4 chr13 25021263 25021263 T C het . 9 +intronic PARP4 chr13 25049919 25049919 T G het . 6 +intronic PARP4 chr13 25049930 25049930 T - het . 6 +intronic PARP4 chr13 25049972 25049972 G T het . 4 +splicing PARP4(NM_006437:exon7:c.592-1G>T) chr13 25068861 25068861 C A het . 20 +intronic PARP4 chr13 25075990 25075990 C A het . 8 +ncRNA_intronic TPTE2P6 chr13 25168674 25168674 C A het . 3 +intergenic ATP12A(dist=13975),RNF17(dist=38403) chr13 25299898 25299898 A G het . 2 +intronic RNF17 chr13 25355966 25355966 T - het . 6 +intronic RNF17 chr13 25404743 25404743 T C het . 11 +intronic RNF17 chr13 25418589 25418589 A G het . 1 +intronic RNF17 chr13 25448424 25448424 T - het . 8 +intronic RNF17 chr13 25448674 25448674 A C het . 1 +downstream RNF17(dist=200) chr13 25454258 25454258 T G het . 2 +intronic CENPJ chr13 25458233 25458235 GTT - het . 49 +intronic CENPJ chr13 25467021 25467023 AAC - het . 19 +exonic CENPJ chr13 25486756 25486756 C A het . 26 +ncRNA_intronic TPTE2P1 chr13 25535929 25535929 G A het . 10 +ncRNA_intronic TPTE2P1 chr13 25539602 25539602 A - het . 3 +intergenic TPTE2P1(dist=20049),PABPC3(dist=107620) chr13 25562656 25562656 T - het . 14 +intergenic TPTE2P1(dist=20084),PABPC3(dist=107585) chr13 25562691 25562691 C A het . 9 +exonic PABPC3 chr13 25671271 25671271 A G het . 29 +exonic PABPC3 chr13 25671273 25671273 G - het . 29 +exonic PABPC3 chr13 25671274 25671274 C T het . 28 +exonic PABPC3 chr13 25671292 25671292 C T het . 23 +exonic PABPC3 chr13 25671311 25671315 TATGA - het . 28 +exonic PABPC3 chr13 25671333 25671333 A - het . 17 +ncRNA_intronic LINC00463 chr13 25748615 25748615 - TCGTCATCA het . 9 +intergenic LINC01053(dist=49298),MTMR6(dist=6246) chr13 25814093 25814095 TAA - het . 2 +splicing MTMR6 chr13 25832832 25832837 TAAAAT - het . 11 +intronic MTMR6 chr13 25841842 25841842 T A het . 5 +intronic NUP58 chr13 25886930 25886930 T C het . 8 +intronic NUP58 chr13 25886932 25886932 A G het . 8 +intronic NUP58 chr13 25893364 25893369 TTTATA - het . 25 +intronic NUP58 chr13 25899092 25899093 TT - het . 6 +intronic ATP8A2 chr13 26104909 26104909 C T het . 6 +exonic ATP8A2 chr13 26117527 26117527 C A het . 16 +intronic ATP8A2 chr13 26137989 26137989 T C het . 5 +intronic ATP8A2 chr13 26144896 26144896 C T het . 8 +intronic ATP8A2 chr13 26222900 26222900 T C het . 2 +intronic ATP8A2 chr13 26244171 26244171 C G het . 1 +intronic ATP8A2 chr13 26244193 26244193 C T het . 2 +intronic ATP8A2 chr13 26285700 26285700 A T het . 1 +intronic ATP8A2 chr13 26313712 26313712 G T het . 2 +intronic ATP8A2 chr13 26373656 26373656 A G het . 2 +intronic ATP8A2 chr13 26382185 26382185 - TA het . 3 +intronic ATP8A2 chr13 26501227 26501227 C T het . 5 +intronic ATP8A2 chr13 26512012 26512012 C A het . 2 +intergenic LINC00415(dist=58506),RNF6(dist=14087) chr13 26692166 26692166 G A het . 16 +intronic CDK8 chr13 26967473 26967473 C A het . 7 +intronic CDK8 chr13 26967489 26967489 C G het . 7 +intronic WASF3 chr13 27151860 27151860 A - het . 6 +intergenic WASF3(dist=15510),GPR12(dist=50747) chr13 27278592 27278592 - A het . 5 +intergenic RASL11A(dist=59437),GTF3A(dist=91417) chr13 27907264 27907264 T A het . 2 +intergenic RASL11A(dist=74081),GTF3A(dist=76773) chr13 27921908 27921908 T - het . 3 +upstream GTF3A(dist=734) chr13 27997947 27997947 A C het . 15 +intronic LNX2 chr13 28182934 28182934 - TTTTGTTTTG het . 2 +intergenic POLR1D(dist=32215),GSX1(dist=93006) chr13 28273774 28273774 C T het . 2 +intergenic POLR1D(dist=36600),GSX1(dist=88621) chr13 28278159 28278159 C T het . 1 +exonic PDX1 chr13 28494502 28494502 A C het . 20 +exonic PDX1 chr13 28498499 28498499 C A het . 28 +UTR3 CDX2(NM_001265:c.*10T>G,NM_001354700:c.*126T>G) chr13 28537242 28537242 A C het . 3 +exonic CDX2 chr13 28537317 28537317 G A het . 14 +intronic FLT3 chr13 28585933 28585936 TTTC - het . 3 +intronic FLT3 chr13 28589662 28589662 C G het . 2 +intronic FLT3 chr13 28611149 28611149 A G het . 3 +intronic FLT3 chr13 28624814 28624814 T C het . 2 +intronic FLT3 chr13 28635910 28635910 A - het . 14 +intronic FLT3 chr13 28642186 28642186 - TGTTTTGTTT het . 8 +intronic FLT3 chr13 28642217 28642217 G A het . 6 +intronic FLT3 chr13 28647490 28647490 A - het . 8 +intronic FLT3 chr13 28647711 28647711 G A het . 4 +intronic FLT3 chr13 28648151 28648151 T G het . 2 +intronic PAN3 chr13 28822658 28822658 T - het . 2 +intronic FLT1 chr13 28885669 28885672 TTCC - het . 17 +intronic FLT1 chr13 28885672 28885672 C T het . 21 +intronic FLT1 chr13 28986670 28986670 T C het . 2 +intronic FLT1 chr13 28991834 28991834 C T het . 1 +intronic FLT1 chr13 29019720 29019720 G T het . 2 +intronic POMP chr13 29252025 29252025 A C het . 18 +intronic MTUS2 chr13 29635612 29635612 T C het . 1 +intronic MTUS2 chr13 29635625 29635625 A G het . 1 +intronic MTUS2 chr13 29645544 29645544 G A het . 2 +intronic MTUS2 chr13 29809941 29809941 A G het . 2 +intronic MTUS2 chr13 29881539 29881539 G A het . 3 +intronic MTUS2 chr13 29961746 29961746 G T het . 1 +intergenic LOC102723345(dist=5084),UBL3(dist=103849) chr13 30234696 30234696 G C het . 3 +intergenic LOC102723345(dist=50208),UBL3(dist=58725) chr13 30279820 30279820 C T het . 2 +ncRNA_intronic LINC00297 chr13 30461204 30461204 C T het . 2 +ncRNA_intronic LINC00297 chr13 30461206 30461206 A G het . 2 +ncRNA_intronic LINC00544 chr13 30523752 30523763 TCTCTCTCTCTG - het . 1 +intergenic LINC00544(dist=4463),LINC00365(dist=148227) chr13 30529088 30529088 T G het . 2 +intergenic LINC00544(dist=4474),LINC00365(dist=148216) chr13 30529099 30529099 T C het . 2 +intergenic LINC00544(dist=4476),LINC00365(dist=148214) chr13 30529101 30529101 G C het . 2 +intergenic LINC00544(dist=19618),LINC00365(dist=133072) chr13 30544243 30544243 T C het . 2 +intergenic LINC00544(dist=46421),LINC00365(dist=106263) chr13 30571046 30571052 AAAGAAG - het . 2 +intergenic LINC00544(dist=147878),LINC00365(dist=4812) chr13 30672503 30672503 C T het . 3 +intergenic LINC00544(dist=147882),LINC00365(dist=4808) chr13 30672507 30672507 C T het . 3 +intergenic LINC00365(dist=9981),LINC00384(dist=33031) chr13 30692993 30692993 T G het . 3 +intronic KATNAL1 chr13 30814787 30814787 C T het . 16 +intronic KATNAL1 chr13 30815010 30815010 G A het . 5 +intergenic KATNAL1(dist=7357),LINC00426(dist=25422) chr13 30888981 30888981 A G het . 1 +intergenic LINC00426(dist=30958),LINC01058(dist=14567) chr13 30979009 30979009 T A het . 3 +intronic HMGB1 chr13 31059084 31059084 C G het . 2 +intronic HMGB1 chr13 31134315 31134315 C - het . 2 +intergenic USPL1(dist=23430),ALOX5AP(dist=29278) chr13 31258337 31258337 C T het . 2 +intergenic USPL1(dist=23455),ALOX5AP(dist=29253) chr13 31258362 31258362 C T het . 1 +splicing ALOX5AP(NM_001204406:exon1:c.116+1->TA) chr13 31287979 31287979 - TA het . 13 +intergenic ALOX5AP(dist=7992),LINC00398(dist=30786) chr13 31346557 31346557 G T het . 2 +intergenic TEX26(dist=73565),HSPH1(dist=85907) chr13 31623204 31623204 G A het . 2 +intronic B3GLCT chr13 31835375 31835375 G A het . 4 +intronic RXFP2 chr13 32350198 32350198 - T het . 5 +intronic RXFP2 chr13 32350218 32350218 C T het . 3 +intronic RXFP2 chr13 32350325 32350325 T C het . 6 +intronic RXFP2 chr13 32355586 32355586 G A het . 4 +intronic RXFP2 chr13 32360349 32360349 C T het . 5 +intronic RXFP2 chr13 32360692 32360692 A - het . 41 +intronic RXFP2 chr13 32363958 32363958 A G het . 1 +intergenic EEF1DP3(dist=26236),FRY-AS1(dist=38239) chr13 32559957 32559957 G T het . 3 +intronic FRY chr13 32691686 32691686 C A het . 32 +intronic FRY chr13 32709388 32709388 C A het . 21 +exonic FRY chr13 32749719 32749719 C A het . 30 +intronic FRY chr13 32759358 32759358 C T het . 18 +intronic FRY chr13 32776318 32776318 T C het . 13 +intronic FRY chr13 32776354 32776354 T - het . 17 +intronic FRY chr13 32778599 32778599 G - het . 2 +intronic FRY chr13 32812438 32812438 T - het . 4 +intronic FRY chr13 32848908 32848908 C - het . 7 +intronic ZAR1L chr13 32882912 32882912 - T het . 10 +intronic BRCA2 chr13 32893559 32893559 C A het . 14 +exonic BRCA2 chr13 32911104 32911104 C A het . 18 +exonic BRCA2 chr13 32920993 32920993 C T het . 28 +intronic BRCA2 chr13 32936646 32936646 T C het . 18 +intronic BRCA2 chr13 32946415 32946415 C T het . 2 +UTR3 BRCA2(NM_000059:c.*105A>C) chr13 32973012 32973012 A C het . 5 +intronic PDS5B chr13 33277086 33277086 C T het . 2 +intronic PDS5B chr13 33294541 33294541 C T het . 1 +intronic PDS5B chr13 33315186 33315186 C T het . 11 +intronic PDS5B chr13 33315188 33315188 - T het . 11 +intronic PDS5B chr13 33315189 33315189 G T het . 11 +intronic PDS5B chr13 33315206 33315206 G A het . 9 +intronic PDS5B chr13 33327881 33327881 A G het . 2 +intronic PDS5B chr13 33329945 33329945 T - het . 6 +intronic PDS5B chr13 33330420 33330420 A G het . 3 +intronic PDS5B chr13 33332648 33332648 G T het . 2 +intronic PDS5B chr13 33332661 33332661 T C het . 1 +intronic STARD13 chr13 33700119 33700119 T C het . 2 +intergenic STARD13(dist=64843),RFC3(dist=76391) chr13 34315815 34315815 T C het . 1 +intergenic STARD13(dist=121638),RFC3(dist=19595) chr13 34372610 34372611 TA - het . 2 +exonic RFC3 chr13 34398062 34398062 - A het . 20 +intergenic RFC3(dist=299957),LINC02343(dist=81528) chr13 34840652 34840652 G A het . 1 +intergenic RFC3(dist=299978),LINC02343(dist=81507) chr13 34840673 34840673 G A het . 2 +ncRNA_intronic LINC02343 chr13 34929840 34929840 G T het . 2 +ncRNA_intronic LINC02343 chr13 34929858 34929858 T C het . 2 +ncRNA_intronic LINC02343 chr13 34943182 34943182 A G het . 4 +ncRNA_intronic LINC02343 chr13 34970607 34970607 T C het . 2 +ncRNA_intronic LINC00457,LINC02343 chr13 35022460 35022460 A G het . 2 +intergenic LINC00457(dist=75470),NBEA(dist=226132) chr13 35290292 35290292 A T het . 2 +intergenic LINC00457(dist=208218),NBEA(dist=93384) chr13 35423040 35423040 C T het . 1 +intronic NBEA chr13 35618966 35618966 - AG het . 5 +intronic NBEA chr13 35618991 35618991 A G het . 11 +intronic NBEA chr13 35643979 35643979 C A het . 5 +intronic NBEA chr13 35758256 35758256 G A het . 3 +intronic NBEA chr13 36219988 36219988 T - het . 13 +exonic NBEA chr13 36223810 36223810 C A het . 16 +ncRNA_exonic LINC00445 chr13 36273368 36273368 G C het . 2 +exonic CCDC169,CCDC169-SOHLH2 chr13 36828237 36828237 T C het . 17 +intronic CCDC169,CCDC169-SOHLH2 chr13 36835718 36835718 T C het . 1 +intergenic SPART(dist=38231),CCNA1(dist=23419) chr13 36982548 36982548 G A het . 3 +intergenic SERTM1(dist=53520),RFXAP(dist=67844) chr13 37325495 37325495 C T het . 2 +intergenic RFXAP(dist=9514),SMAD9(dist=5714) chr13 37413254 37413254 A G het . 3 +intronic SMAD9 chr13 37453293 37453293 - CTCT het . 7 +intronic ALG5 chr13 37546447 37546447 T C het . 5 +intronic ALG5 chr13 37569431 37569431 C A het . 6 +exonic EXOSC8 chr13 37580078 37580078 C A het . 20 +intronic SUPT20H chr13 37598113 37598113 A G het . 10 +intergenic CSNK1A1L(dist=164766),LINC01048(dist=211034) chr13 37844567 37844567 C T het . 1 +intronic POSTN chr13 38143326 38143326 T - het . 3 +intronic POSTN chr13 38152936 38152936 A - het . 5 +intronic POSTN chr13 38156706 38156706 T G het . 12 +intronic POSTN chr13 38156742 38156742 C T het . 8 +intergenic POSTN(dist=12511),TRPC4(dist=20708) chr13 38185492 38185492 - AAAT het . 2 +intronic TRPC4 chr13 38320595 38320595 A - het . 5 +intronic TRPC4 chr13 38354511 38354511 G - het . 2 +intronic TRPC4 chr13 38416480 38416480 C T het . 2 +intergenic TRPC4(dist=124235),LINC00571(dist=56157) chr13 38568797 38568797 A G het . 1 +ncRNA_intronic LINC00571 chr13 38693258 38693258 C T het . 1 +ncRNA_intronic LINC00571 chr13 38694737 38694737 C T het . 1 +intergenic LINC00571(dist=1465),UFM1(dist=205074) chr13 38718834 38718834 A T het . 2 +intergenic LINC00571(dist=189615),UFM1(dist=16924) chr13 38906984 38906984 C T het . 2 +intronic UFM1 chr13 38932064 38932064 A G het . 2 +intronic UFM1 chr13 38932175 38932178 TGTG - het . 7 +intronic UFM1 chr13 38932208 38932208 A T het . 19 +intergenic UFM1(dist=12736),LINC00437(dist=156256) chr13 38949880 38949881 TT GG het . 4 +intronic FREM2 chr13 39289139 39289139 A G het . 2 +intronic FREM2 chr13 39382650 39382650 A T het . 2 +intronic FREM2 chr13 39450583 39450583 - A het . 12 +exonic FREM2 chr13 39452383 39452383 C A het . 30 +intergenic FREM2(dist=28590),STOML3(dist=50201) chr13 39489857 39489861 TTTTT - het . 2 +exonic PROSER1 chr13 39587763 39587763 C T het . 11 +exonic PROSER1 chr13 39587865 39587865 A C het . 9 +exonic PROSER1 chr13 39587889 39587889 T C het . 18 +intronic PROSER1 chr13 39596403 39596403 G A het . 11 +intronic PROSER1 chr13 39598698 39598698 - A het . 11 +intronic PROSER1 chr13 39598728 39598728 - A het . 20 +intronic PROSER1 chr13 39603380 39603380 - AATG het . 4 +intronic PROSER1 chr13 39603559 39603559 C A het . 8 +intergenic NHLRC3(dist=49452),LHFPL6(dist=243331) chr13 39673696 39673698 TTC - het . 2 +intergenic NHLRC3(dist=187408),LHFPL6(dist=105377) chr13 39811652 39811652 C A het . 1 +intronic LHFPL6 chr13 40076535 40076535 C T het . 1 +intronic LHFPL6 chr13 40147517 40147517 C T het . 1 +intronic COG6 chr13 40239139 40239139 G A het . 22 +intronic COG6 chr13 40298639 40298639 A - het . 14 +intergenic COG6(dist=234218),LINC00332(dist=155926) chr13 40600020 40600020 A - het . 5 +intergenic COG6(dist=286672),LINC00332(dist=103472) chr13 40652474 40652474 G T het . 2 +intergenic COG6(dist=312815),LINC00332(dist=77329) chr13 40678617 40678617 C T het . 2 +ncRNA_intronic LINC00598 chr13 40959606 40959606 G T het . 3 +exonic MRPS31 chr13 41303654 41303654 G A het . 41 +ncRNA_intronic TPTE2P5 chr13 41399703 41399703 C A het . 4 +upstream SUGT1P3,TPTE2P5(dist=14) chr13 41495924 41495924 G T het . 6 +ncRNA_intronic LOC101929140 chr13 41732271 41732271 A G het . 1 +ncRNA_intronic LOC101929140 chr13 41760947 41760947 T C het . 2 +exonic KBTBD7 chr13 41767338 41767338 A G het . 9 +exonic KBTBD7 chr13 41767341 41767341 A G het . 9 +ncRNA_intronic LOC101929140 chr13 41789751 41789751 T - het . 3 +ncRNA_intronic LOC101929140 chr13 41791440 41791440 T A het . 13 +intronic MTRF1 chr13 41811598 41811598 C T het . 1 +intronic MTRF1 chr13 41834579 41834579 T - het . 7 +intronic MTRF1 chr13 41835076 41835076 - A het . 8 +intronic MTRF1 chr13 41835089 41835089 T G het . 9 +intronic MTRF1 chr13 41862327 41862327 T C het . 9 +intronic VWA8 chr13 42161863 42161863 C T het . 4 +intronic VWA8 chr13 42502972 42502972 G A het . 3 +intronic DGKH chr13 42655370 42655370 T - het . 3 +intronic DGKH chr13 42748118 42748118 T C het . 7 +intronic DGKH chr13 42748136 42748136 T C het . 10 +intronic DGKH chr13 42772775 42772775 T - het . 14 +intronic DGKH chr13 42781831 42781831 G A het . 1 +intronic DGKH chr13 42783012 42783012 G A het . 5 +intronic DGKH chr13 42793767 42793774 GGTTTTTC - het . 13 +intergenic DGKH(dist=13236),AKAP11(dist=16020) chr13 42830269 42830269 G A het . 14 +ncRNA_intronic LINC02341 chr13 43057386 43057386 G A het . 2 +intronic EPSTI1 chr13 43479644 43479644 G C het . 1 +intronic EPSTI1 chr13 43493219 43493219 A G het . 2 +intronic EPSTI1 chr13 43544820 43544820 A - het . 7 +intronic DNAJC15 chr13 43675456 43675456 T C het . 2 +intronic ENOX1 chr13 43872419 43872419 C T het . 9 +intronic ENOX1 chr13 43872451 43872451 - A het . 5 +intronic ENOX1 chr13 43955819 43955819 A - het . 1 +intronic ENOX1 chr13 44300256 44300256 C T het . 2 +intronic ENOX1 chr13 44315769 44315769 T G het . 2 +intronic TSC22D1 chr13 45030799 45030799 C T het . 1 +intronic TSC22D1 chr13 45040115 45040115 - AAACAAAC het . 3 +intergenic TSC22D1-AS1(dist=30287),LINC00407(dist=29650) chr13 45184855 45184855 T C het . 2 +intergenic LINC00407(dist=94752),LINC00330(dist=3736) chr13 45369904 45369904 T C het . 2 +intronic NUFIP1 chr13 45554104 45554104 - A het . 16 +intronic GPALPP1 chr13 45580168 45580168 A - het . 4 +intronic GPALPP1 chr13 45603040 45603040 A T het . 2 +intronic GTF2F2 chr13 45701455 45701455 - T het . 2 +intronic GTF2F2 chr13 45805255 45805255 A T het . 2 +intergenic GTF2F2(dist=7471),TPT1(dist=41896) chr13 45865710 45865710 G A het . 2 +intergenic GTF2F2(dist=31100),TPT1(dist=18267) chr13 45889339 45889339 T G het . 2 +intronic COG3 chr13 46077301 46077301 G A het . 5 +intronic ERICH6B chr13 46124290 46124290 T A het . 11 +intronic ERICH6B chr13 46148944 46148944 G - het . 8 +intergenic SIAH3(dist=95233),ZC3H13(dist=7521) chr13 46521079 46521079 A G het . 2 +exonic ZC3H13 chr13 46553966 46553966 G A het . 6 +intronic ZC3H13 chr13 46605441 46605441 T C het . 3 +intronic ZC3H13 chr13 46619026 46619026 T C het . 2 +intronic ZC3H13 chr13 46619071 46619071 T C het . 3 +ncRNA_intronic CPB2-AS1 chr13 46638131 46638131 C T het . 2 +intronic LRCH1 chr13 47245991 47245991 T C het . 1 +intronic LRCH1 chr13 47256065 47256065 C G het . 15 +intronic LRCH1 chr13 47263383 47263383 C A het . 16 +intronic LRCH1 chr13 47271006 47271006 T C het . 1 +intergenic ESD(dist=4661),HTR2A(dist=29649) chr13 47376028 47376028 A C het . 2 +intergenic HTR2A(dist=247956),LINC00562(dist=785120) chr13 47719167 47719168 TC - het . 2 +intergenic HTR2A(dist=634237),LINC00562(dist=398840) chr13 48105448 48105448 A G het . 2 +intergenic HTR2A(dist=998038),LINC00562(dist=35039) chr13 48469249 48469249 C A het . 1 +ncRNA_exonic LINC00562 chr13 48504904 48504904 T - het . 2 +UTR3 SUCLA2(NM_003850:c.*217T>C) chr13 48517289 48517289 A G het . 2 +intronic SUCLA2 chr13 48528148 48528148 G T het . 10 +intronic SUCLA2 chr13 48528178 48528178 A G het . 17 +intronic SUCLA2 chr13 48551789 48551789 A T het . 1 +intronic SUCLA2 chr13 48551798 48551798 G A het . 2 +intronic SUCLA2 chr13 48562918 48562918 C A het . 40 +intronic SUCLA2 chr13 48562947 48562947 C A het . 38 +intronic SUCLA2 chr13 48571383 48571383 C T het . 1 +intronic SUCLA2 chr13 48575208 48575208 A - het . 5 +ncRNA_intronic MED4-AS1 chr13 48653865 48653865 A - het . 5 +intronic ITM2B chr13 48828101 48828101 G T het . 24 +intronic ITM2B chr13 48828103 48828103 T - het . 21 +intronic RB1 chr13 48953655 48953655 - A het . 18 +intronic RB1 chr13 48954283 48954283 T - het . 28 +intronic RB1 chr13 48955201 48955201 T A het . 4 +intronic RB1 chr13 49026852 49026852 C T het . 2 +intronic RB1 chr13 49033747 49033747 G A het . 15 +intronic RB1 chr13 49034023 49034025 TTC - het . 11 +splicing RB1(NM_000321:exon22:c.2212-1G>T) chr13 49039133 49039133 G T het . 16 +intronic RB1 chr13 49051784 49051784 G T het . 8 +intronic RB1 chr13 49051848 49051848 G A het . 3 +intronic RCBTB2 chr13 49086735 49086735 C A het . 2 +intergenic LINC00462(dist=54725),CYSLTR2(dist=18085) chr13 49209762 49209762 T C het . 2 +intergenic LINC00462(dist=54769),CYSLTR2(dist=18041) chr13 49209806 49209806 C A het . 2 +intergenic CYSLTR2(dist=32736),FNDC3A(dist=231951) chr13 49318097 49318097 A G het . 2 +intronic FNDC3A chr13 49555968 49555968 G - het . 2 +intronic FNDC3A chr13 49705268 49705268 T C het . 8 +intronic FNDC3A chr13 49761787 49761787 C T het . 17 +intergenic FNDC3A(dist=1555),MLNR(dist=9004) chr13 49785470 49785470 - A het . 5 +intronic CDADC1 chr13 49833774 49833774 C T het . 5 +intronic CDADC1 chr13 49839979 49839979 G A het . 7 +intronic CDADC1 chr13 49859319 49859319 T - het . 3 +intronic CDADC1 chr13 49865748 49865748 A G het . 3 +UTR3 CDADC1(NM_030911:c.*188G>T) chr13 49866081 49866081 G T het . 3 +intronic CAB39L chr13 49910418 49910418 G A het . 2 +intronic CAB39L chr13 49938014 49938014 A - het . 4 +intronic CAB39L chr13 49964398 49964398 T A het . 2 +UTR3 SETDB2(NM_001320699:c.*157C>A,NM_001160308:c.*157C>A,NM_031915:c.*157C>A) chr13 50066142 50066142 C A het . 24 +intronic RCBTB1 chr13 50118660 50118660 T C het . 3 +intronic RCBTB1 chr13 50126482 50126482 A - het . 3 +intronic RCBTB1 chr13 50126490 50126490 C T het . 3 +intronic RCBTB1 chr13 50126505 50126505 A G het . 3 +intronic RCBTB1 chr13 50126508 50126508 C G het . 3 +intronic EBPL chr13 50242709 50242709 A - het . 16 +intronic KPNA3 chr13 50294056 50294056 G A het . 6 +exonic KPNA3 chr13 50307095 50307095 C A het . 20 +intergenic KPNA3(dist=24990),CTAGE10P(dist=72498) chr13 50392047 50392047 C T het . 2 +intergenic KPNA3(dist=36746),CTAGE10P(dist=60742) chr13 50403803 50403803 - G het . 2 +intergenic SPRYD7(dist=19865),DLEU2(dist=26183) chr13 50530502 50530502 G T het . 9 +intergenic SPRYD7(dist=19869),DLEU2(dist=26179) chr13 50530506 50530506 G C het . 9 +intergenic SPRYD7(dist=19903),DLEU2(dist=26131) chr13 50530540 50530554 CTTCCTCTTCTTCCT - het . 6 +ncRNA_intronic DLEU1 chr13 50898800 50898800 G A het . 3 +ncRNA_intronic DLEU1 chr13 50907834 50907836 AAA - het . 2 +ncRNA_intronic DLEU1 chr13 50909605 50909605 C T het . 2 +ncRNA_intronic DLEU1 chr13 50935855 50935855 T C het . 9 +intronic DLEU7 chr13 51364056 51364059 TCTT - het . 3 +intergenic DLEU7-AS1(dist=17433),RNASEH2B-AS1(dist=15041) chr13 51441474 51441474 G T het . 4 +downstream RNASEH2B-AS1(dist=723) chr13 51455792 51455792 - A het . 2 +intronic RNASEH2B chr13 51522082 51522082 T - het . 23 +intronic FAM124A chr13 51831839 51831839 A G het . 3 +intronic WDFY2 chr13 52277693 52277693 G T het . 17 +intronic DHRS12 chr13 52365408 52365408 A - het . 8 +intergenic TMEM272(dist=14701),CCDC70(dist=2095) chr13 52433989 52433989 T C het . 2 +intronic ATP7B chr13 52511276 52511277 AA - het . 1 +intronic ATP7B chr13 52511362 52511362 C G het . 12 +intronic ATP7B chr13 52516798 52516798 C T het . 5 +intronic ATP7B chr13 52541012 52541012 C A het . 23 +exonic ALG11 chr13 52598565 52598565 G T het . 15 +intronic NEK5 chr13 52649975 52649975 A - het . 12 +intronic NEK5 chr13 52678904 52678904 C A het . 7 +intronic NEK5 chr13 52678967 52678967 G A het . 4 +intronic NEK5 chr13 52690537 52690537 C A het . 3 +intronic THSD1 chr13 52952929 52952929 A - het . 2 +intronic VPS36 chr13 53007886 53007886 - A het . 11 +intronic SUGT1 chr13 53253938 53253938 T C het . 2 +intergenic CNMD(dist=58596),MIR759(dist=11642) chr13 53372543 53372543 T - het . 3 +intergenic MIR759(dist=31221),PCDH8(dist=2613) chr13 53415496 53415496 G A het . 1 +intergenic PCDH8(dist=6678),OLFM4(dist=173423) chr13 53429453 53429453 G A het . 3 +intergenic PCDH8(dist=51342),OLFM4(dist=128758) chr13 53474117 53474118 AG - het . 2 +intronic OLFM4 chr13 53608842 53608842 A G het . 2 +intergenic LINC01065(dist=156413),LINC00558(dist=507106) chr13 53882448 53882448 G A het . 3 +intergenic LINC01065(dist=254913),LINC00558(dist=408606) chr13 53980948 53980948 A G het . 2 +intergenic LINC00558(dist=142425),LINC00458(dist=105780) chr13 54592679 54592679 A G het . 1 +intergenic LINC00558(dist=164993),LINC00458(dist=83212) chr13 54615247 54615247 A C het . 9 +intergenic LINC00458(dist=4564),MIR1297(dist=174537) chr13 54711570 54711570 A G het . 1 +intergenic LINC00458(dist=65517),MIR1297(dist=113584) chr13 54772523 54772523 C G het . 1 +intergenic LINC00458(dist=71740),MIR1297(dist=107361) chr13 54778746 54778746 C A het . 3 +intergenic LINC00458(dist=158343),MIR1297(dist=20757) chr13 54865349 54865350 TT - het . 2 +intergenic LINC00458(dist=158350),MIR1297(dist=20751) chr13 54865356 54865356 T G het . 2 +intergenic MIR1297(dist=119017),MIR5007(dist=743389) chr13 55005200 55005200 A G het . 2 +intergenic MIR1297(dist=129061),MIR5007(dist=733345) chr13 55015244 55015244 A G het . 27 +intergenic MIR1297(dist=415490),MIR5007(dist=446916) chr13 55301673 55301673 T C het . 1 +intergenic MIR5007(dist=222032),PRR20A(dist=1744336) chr13 55970715 55970716 AA - het . 2 +intergenic MIR5007(dist=222050),PRR20A(dist=1744319) chr13 55970733 55970733 T C het . 2 +intergenic MIR5007(dist=403940),PRR20A(dist=1562429) chr13 56152623 56152623 C T het . 1 +intergenic MIR5007(dist=540930),PRR20A(dist=1425439) chr13 56289613 56289613 C T het . 1 +intergenic MIR5007(dist=680313),PRR20A(dist=1286056) chr13 56428996 56428996 T A het . 2 +intergenic MIR5007(dist=682467),PRR20A(dist=1283902) chr13 56431150 56431150 G T het . 1 +intergenic MIR5007(dist=708824),PRR20A(dist=1257545) chr13 56457507 56457507 C T het . 2 +intergenic MIR5007(dist=709969),PRR20A(dist=1256400) chr13 56458652 56458652 T - het . 3 +intergenic MIR5007(dist=936348),PRR20A(dist=1030021) chr13 56685031 56685031 G T het . 2 +intergenic MIR5007(dist=1172617),PRR20A(dist=793752) chr13 56921300 56921300 T C het . 1 +intergenic MIR5007(dist=1299429),PRR20A(dist=666940) chr13 57048112 57048112 G A het . 1 +intergenic MIR5007(dist=1341407),PRR20A(dist=624962) chr13 57090090 57090090 - CT het . 2 +intergenic MIR5007(dist=1514995),PRR20A(dist=451374) chr13 57263678 57263678 C A het . 1 +intergenic PRR20A(dist=170813),PCDH17(dist=290624) chr13 57915165 57915165 G C het . 8 +intergenic PRR20A(dist=170833),PCDH17(dist=290602) chr13 57915185 57915187 ATC - het . 6 +intergenic PRR20A(dist=171684),PCDH17(dist=289753) chr13 57916036 57916036 G A het . 1 +intergenic PRR20A(dist=331839),PCDH17(dist=129598) chr13 58076191 58076191 G T het . 1 +intergenic PRR20A(dist=352384),PCDH17(dist=109053) chr13 58096736 58096736 A G het . 2 +intergenic PCDH17(dist=300177),LINC02338(dist=136719) chr13 58603242 58603242 - T het . 2 +intergenic LINC00374(dist=270138),DIAPH3(dist=1162332) chr13 59077389 59077389 A T het . 3 +intergenic LINC00374(dist=270146),DIAPH3(dist=1162324) chr13 59077397 59077397 A - het . 3 +intergenic LINC00374(dist=324899),DIAPH3(dist=1107571) chr13 59132150 59132150 C T het . 2 +intergenic LINC00374(dist=544124),DIAPH3(dist=888346) chr13 59351375 59351375 A G het . 3 +intergenic LINC00374(dist=856107),DIAPH3(dist=576363) chr13 59663358 59663358 C A het . 1 +intergenic LINC00374(dist=928758),DIAPH3(dist=503712) chr13 59736009 59736009 C A het . 2 +intergenic LINC00374(dist=931829),DIAPH3(dist=500641) chr13 59739080 59739080 T C het . 2 +intergenic LINC00374(dist=976961),DIAPH3(dist=455509) chr13 59784212 59784212 G A het . 3 +intergenic LINC00374(dist=1120986),DIAPH3(dist=311484) chr13 59928237 59928237 G A het . 2 +intergenic LINC00374(dist=1319176),DIAPH3(dist=113294) chr13 60126427 60126427 G A het . 2 +intergenic LINC00374(dist=1324313),DIAPH3(dist=108157) chr13 60131564 60131564 G C het . 3 +intergenic LINC00374(dist=1365198),DIAPH3(dist=67272) chr13 60172449 60172449 G A het . 2 +intergenic LINC00374(dist=1365719),DIAPH3(dist=66751) chr13 60172970 60172970 A - het . 2 +intronic DIAPH3 chr13 60385060 60385060 - TTAC het . 22 +exonic DIAPH3 chr13 60453575 60453575 G A het . 14 +intronic DIAPH3 chr13 60498614 60498614 C G het . 3 +intronic DIAPH3 chr13 60498631 60498631 A - het . 3 +ncRNA_intronic LINC00434 chr13 60833583 60833583 G A het . 2 +ncRNA_intronic LINC00434 chr13 60837989 60837989 T A het . 1 +intronic TDRD3 chr13 61021053 61021053 T G het . 2 +intronic TDRD3 chr13 61021122 61021122 C T het . 2 +intergenic LINC00378(dist=387316),MIR3169(dist=116682) chr13 61657250 61657250 A G het . 2 +intergenic LINC00378(dist=399795),MIR3169(dist=104203) chr13 61669729 61669729 T C het . 2 +exonic PCDH20 chr13 61985904 61985904 C A het . 27 +exonic PCDH20 chr13 61986918 61986918 C A het . 14 +intergenic LINC02339(dist=305286),LINC00358(dist=270293) chr13 62307365 62307365 T A het . 2 +intergenic LINC02339(dist=516697),LINC00358(dist=58879) chr13 62518776 62518779 ATAT - het . 2 +intergenic LINC02339(dist=516701),LINC00358(dist=58878) chr13 62518780 62518780 T G het . 2 +intergenic LINC00358(dist=75422),LINC01075(dist=107312) chr13 62679103 62679103 T A het . 1 +intergenic LINC00448(dist=229014),LINC00376(dist=146729) chr13 63610506 63610506 C T het . 3 +intergenic LINC00448(dist=229023),LINC00376(dist=146720) chr13 63610515 63610515 A G het . 3 +intergenic LINC00448(dist=229030),LINC00376(dist=146713) chr13 63610522 63610522 - A het . 3 +intergenic LINC00448(dist=229056),LINC00376(dist=146686) chr13 63610548 63610549 CC TA het . 3 +intergenic LINC00448(dist=229066),LINC00376(dist=146677) chr13 63610558 63610558 T C het . 3 +intergenic LINC00448(dist=229316),LINC00376(dist=146427) chr13 63610808 63610808 C A het . 2 +intergenic LINC00448(dist=229342),LINC00376(dist=146401) chr13 63610834 63610834 G A het . 2 +intergenic LINC00448(dist=237814),LINC00376(dist=137929) chr13 63619306 63619306 C T het . 2 +intergenic LINC00448(dist=237835),LINC00376(dist=137908) chr13 63619327 63619327 C A het . 2 +intergenic LINC00448(dist=237868),LINC00376(dist=137875) chr13 63619360 63619360 T C het . 2 +intergenic LINC00448(dist=237877),LINC00376(dist=137865) chr13 63619369 63619370 TG CA het . 2 +intergenic LINC00448(dist=240197),LINC00376(dist=135546) chr13 63621689 63621689 A G het . 2 +intergenic LINC00448(dist=240212),LINC00376(dist=135531) chr13 63621704 63621704 G C het . 1 +intergenic LINC00448(dist=240333),LINC00376(dist=135410) chr13 63621825 63621825 T C het . 3 +intergenic LINC00448(dist=248197),LINC00376(dist=127546) chr13 63629689 63629689 T G het . 1 +intergenic LINC00448(dist=248224),LINC00376(dist=127519) chr13 63629716 63629716 G A het . 2 +intergenic LINC00448(dist=248269),LINC00376(dist=127473) chr13 63629761 63629762 CT - het . 1 +intergenic LINC00448(dist=248647),LINC00376(dist=127096) chr13 63630139 63630139 A C het . 2 +intergenic LINC00448(dist=248940),LINC00376(dist=126803) chr13 63630432 63630432 - A het . 1 +intergenic LINC00448(dist=248977),LINC00376(dist=126766) chr13 63630469 63630469 G A het . 2 +intergenic LINC00448(dist=249023),LINC00376(dist=126720) chr13 63630515 63630515 C T het . 1 +intergenic LINC00448(dist=249027),LINC00376(dist=126716) chr13 63630519 63630519 A C het . 1 +intergenic LINC00448(dist=249118),LINC00376(dist=126625) chr13 63630610 63630610 C T het . 2 +intergenic LINC00448(dist=249262),LINC00376(dist=126481) chr13 63630754 63630754 C A het . 2 +intergenic LINC00448(dist=249820),LINC00376(dist=125923) chr13 63631312 63631312 A G het . 3 +intergenic LINC00448(dist=249832),LINC00376(dist=125911) chr13 63631324 63631324 T G het . 2 +intergenic LINC00448(dist=249842),LINC00376(dist=125901) chr13 63631334 63631334 A G het . 2 +intergenic LINC00448(dist=249980),LINC00376(dist=125763) chr13 63631472 63631472 T C het . 4 +intergenic LINC00448(dist=250000),LINC00376(dist=125743) chr13 63631492 63631492 A T het . 6 +intergenic LINC00448(dist=250007),LINC00376(dist=125736) chr13 63631499 63631499 C T het . 6 +intergenic LINC00448(dist=250038),LINC00376(dist=125705) chr13 63631530 63631530 T C het . 3 +intergenic LINC00448(dist=250042),LINC00376(dist=125701) chr13 63631534 63631534 C T het . 3 +intergenic LINC00448(dist=250653),LINC00376(dist=125090) chr13 63632145 63632145 T A het . 1 +intergenic LINC00448(dist=250660),LINC00376(dist=125083) chr13 63632152 63632152 T G het . 1 +intergenic LINC00448(dist=250681),LINC00376(dist=125062) chr13 63632173 63632173 A T het . 2 +intergenic LINC00448(dist=251702),LINC00376(dist=124041) chr13 63633194 63633194 G A het . 3 +intergenic LINC00448(dist=251709),LINC00376(dist=124034) chr13 63633201 63633201 T C het . 3 +intergenic LINC00448(dist=251742),LINC00376(dist=124001) chr13 63633234 63633234 T A het . 3 +intergenic LINC00448(dist=251746),LINC00376(dist=123997) chr13 63633238 63633238 C T het . 3 +intergenic LINC00448(dist=251871),LINC00376(dist=123872) chr13 63633363 63633363 A C het . 1 +intergenic LINC00448(dist=251962),LINC00376(dist=123781) chr13 63633454 63633454 G A het . 2 +intergenic LINC00448(dist=252286),LINC00376(dist=123457) chr13 63633778 63633778 G T het . 2 +intergenic LINC00448(dist=252291),LINC00376(dist=123452) chr13 63633783 63633783 A G het . 2 +intergenic LINC00448(dist=252388),LINC00376(dist=123355) chr13 63633880 63633880 G C het . 1 +intergenic LINC00448(dist=253268),LINC00376(dist=122475) chr13 63634760 63634760 T G het . 3 +intergenic LINC00448(dist=255011),LINC00376(dist=120732) chr13 63636503 63636503 T C het . 1 +intergenic LINC00448(dist=255031),LINC00376(dist=120712) chr13 63636523 63636523 G A het . 1 +intergenic LINC00448(dist=256125),LINC00376(dist=119618) chr13 63637617 63637617 C T het . 1 +intergenic LINC00448(dist=256150),LINC00376(dist=119593) chr13 63637642 63637642 T C het . 2 +intergenic LINC00448(dist=256185),LINC00376(dist=119558) chr13 63637677 63637677 T C het . 4 +intergenic LINC00448(dist=256194),LINC00376(dist=119548) chr13 63637686 63637687 CT TG het . 5 +intergenic LINC00448(dist=256206),LINC00376(dist=119537) chr13 63637698 63637698 A T het . 4 +intergenic LINC00448(dist=256214),LINC00376(dist=119529) chr13 63637706 63637706 C T het . 4 +intergenic LINC00448(dist=256405),LINC00376(dist=119338) chr13 63637897 63637897 A G het . 2 +intergenic LINC00448(dist=259277),LINC00376(dist=116466) chr13 63640769 63640769 T C het . 2 +intergenic LINC00448(dist=259281),LINC00376(dist=116461) chr13 63640773 63640774 AT GC het . 2 +intergenic LINC00448(dist=259308),LINC00376(dist=116435) chr13 63640800 63640800 T C het . 2 +intergenic LINC00448(dist=259311),LINC00376(dist=116432) chr13 63640803 63640803 T C het . 2 +intergenic LINC00448(dist=259336),LINC00376(dist=116407) chr13 63640828 63640828 T C het . 3 +intergenic LINC00448(dist=260137),LINC00376(dist=115606) chr13 63641629 63641629 A G het . 1 +intergenic LINC00448(dist=260147),LINC00376(dist=115596) chr13 63641639 63641639 G T het . 1 +intergenic LINC00448(dist=260149),LINC00376(dist=115594) chr13 63641641 63641641 G T het . 1 +intergenic LINC00448(dist=260166),LINC00376(dist=115577) chr13 63641658 63641658 A G het . 3 +intergenic LINC00448(dist=260186),LINC00376(dist=115557) chr13 63641678 63641678 A G het . 2 +intergenic LINC00448(dist=260407),LINC00376(dist=115336) chr13 63641899 63641899 A G het . 2 +intergenic LINC00448(dist=260710),LINC00376(dist=115033) chr13 63642202 63642202 T C het . 1 +intergenic LINC00448(dist=260716),LINC00376(dist=115027) chr13 63642208 63642208 T C het . 1 +intergenic LINC00448(dist=262406),LINC00376(dist=113337) chr13 63643898 63643898 T G het . 2 +intergenic LINC00448(dist=262450),LINC00376(dist=113293) chr13 63643942 63643942 C T het . 2 +intergenic LINC00448(dist=262454),LINC00376(dist=113289) chr13 63643946 63643946 G A het . 2 +intergenic LINC00448(dist=262456),LINC00376(dist=113287) chr13 63643948 63643948 G A het . 2 +intergenic LINC00448(dist=262539),LINC00376(dist=113204) chr13 63644031 63644031 G A het . 2 +intergenic LINC00448(dist=262548),LINC00376(dist=113195) chr13 63644040 63644040 G A het . 2 +intergenic LINC00448(dist=262552),LINC00376(dist=113191) chr13 63644044 63644044 G A het . 2 +intergenic LINC00448(dist=262556),LINC00376(dist=113187) chr13 63644048 63644048 A C het . 2 +intergenic LINC00448(dist=262571),LINC00376(dist=113172) chr13 63644063 63644063 A T het . 3 +intergenic LINC00448(dist=263307),LINC00376(dist=112436) chr13 63644799 63644799 T G het . 2 +intergenic LINC00448(dist=263972),LINC00376(dist=111771) chr13 63645464 63645464 A T het . 2 +intergenic LINC00448(dist=263992),LINC00376(dist=111751) chr13 63645484 63645484 A C het . 2 +intergenic LINC00448(dist=264013),LINC00376(dist=111730) chr13 63645505 63645505 A G het . 3 +intergenic LINC00448(dist=264021),LINC00376(dist=111722) chr13 63645513 63645513 G A het . 3 +intergenic LINC00448(dist=264135),LINC00376(dist=111608) chr13 63645627 63645627 G A het . 3 +intergenic LINC00448(dist=264156),LINC00376(dist=111587) chr13 63645648 63645648 A G het . 3 +intergenic LINC00448(dist=264178),LINC00376(dist=111565) chr13 63645670 63645670 A G het . 3 +intergenic LINC00448(dist=264271),LINC00376(dist=111472) chr13 63645763 63645763 - A het . 1 +intergenic LINC00448(dist=264280),LINC00376(dist=111463) chr13 63645772 63645772 G T het . 1 +intergenic LINC00448(dist=264300),LINC00376(dist=111443) chr13 63645792 63645792 C A het . 1 +intergenic LINC00448(dist=264304),LINC00376(dist=111439) chr13 63645796 63645796 A G het . 1 +intergenic LINC00448(dist=264344),LINC00376(dist=111399) chr13 63645836 63645836 C T het . 1 +intergenic LINC00448(dist=264550),LINC00376(dist=111193) chr13 63646042 63646042 G T het . 1 +intergenic LINC00448(dist=264556),LINC00376(dist=111187) chr13 63646048 63646048 A T het . 2 +intergenic LINC00448(dist=264559),LINC00376(dist=111184) chr13 63646051 63646051 T C het . 2 +intergenic LINC00448(dist=264561),LINC00376(dist=111182) chr13 63646053 63646053 T C het . 2 +intergenic LINC00448(dist=264581),LINC00376(dist=111162) chr13 63646073 63646073 T A het . 2 +intergenic LINC00448(dist=264591),LINC00376(dist=111152) chr13 63646083 63646083 A G het . 2 +intergenic LINC00448(dist=264596),LINC00376(dist=111147) chr13 63646088 63646088 A G het . 1 +intergenic LINC00448(dist=264620),LINC00376(dist=111123) chr13 63646112 63646112 T A het . 3 +intergenic LINC00448(dist=264628),LINC00376(dist=111115) chr13 63646120 63646120 T G het . 3 +intergenic LINC00448(dist=266417),LINC00376(dist=109326) chr13 63647909 63647909 T C het . 2 +intergenic LINC00448(dist=266429),LINC00376(dist=109314) chr13 63647921 63647921 T C het . 2 +intergenic LINC00448(dist=266431),LINC00376(dist=109312) chr13 63647923 63647923 T A het . 2 +intergenic LINC00448(dist=266466),LINC00376(dist=109276) chr13 63647958 63647959 TG CT het . 2 +ncRNA_intronic LINC00376 chr13 63797639 63797639 T G het . 2 +ncRNA_intronic LINC00376 chr13 63819091 63819091 - AG het . 2 +ncRNA_intronic LINC00376 chr13 63866864 63866868 TTTGT - het . 8 +intergenic LINC00376(dist=91948),LINC00395(dist=247638) chr13 63994175 63994177 AAT - het . 2 +intergenic LINC00376(dist=255809),LINC00395(dist=83779) chr13 64158036 64158036 G A het . 1 +intergenic LINC00355(dist=42844),LINC01052(dist=1747191) chr13 64692988 64692988 A G het . 1 +intergenic LINC00355(dist=42850),LINC01052(dist=1747185) chr13 64692994 64692994 C A het . 1 +intergenic LINC00355(dist=42857),LINC01052(dist=1747178) chr13 64693001 64693001 G T het . 1 +intergenic LINC00355(dist=110708),LINC01052(dist=1679327) chr13 64760852 64760852 C T het . 2 +intergenic LINC00355(dist=185555),LINC01052(dist=1604480) chr13 64835699 64835699 G A het . 2 +intergenic LINC00355(dist=766184),LINC01052(dist=1023851) chr13 65416328 65416328 T A het . 3 +intergenic LINC00355(dist=865833),LINC01052(dist=924202) chr13 65515977 65515977 G A het . 2 +intergenic LINC00355(dist=896284),LINC01052(dist=893751) chr13 65546428 65546428 G C het . 2 +intergenic LINC00355(dist=929980),LINC01052(dist=860055) chr13 65580124 65580124 A G het . 2 +intergenic LINC00355(dist=930015),LINC01052(dist=860020) chr13 65580159 65580159 A T het . 3 +intergenic LINC00355(dist=1082435),LINC01052(dist=707600) chr13 65732579 65732579 C T het . 1 +intergenic LINC00355(dist=1322217),LINC01052(dist=467818) chr13 65972361 65972361 T C het . 2 +intergenic LINC00355(dist=1365798),LINC01052(dist=424237) chr13 66015942 66015942 T C het . 9 +intergenic LINC00355(dist=1712405),LINC01052(dist=77630) chr13 66362549 66362549 C T het . 9 +intergenic LINC00355(dist=1734383),LINC01052(dist=55652) chr13 66384527 66384527 C T het . 1 +intergenic LINC01052(dist=10837),MIR548X2(dist=77274) chr13 66463188 66463188 - A het . 2 +intronic PCDH9 chr13 66993352 66993352 A - het . 2 +intronic PCDH9 chr13 67072853 67072853 T A het . 2 +intronic PCDH9 chr13 67081831 67081834 TTTG - het . 4 +intronic PCDH9 chr13 67091536 67091536 C G het . 2 +intronic PCDH9 chr13 67091553 67091553 G T het . 1 +intronic PCDH9 chr13 67335788 67335788 T C het . 3 +intronic PCDH9 chr13 67385889 67385889 T C het . 1 +ncRNA_intronic PCDH9-AS2 chr13 67419133 67419133 C T het . 3 +intronic PCDH9 chr13 67508050 67508050 G C het . 1 +intergenic PCDH9(dist=78382),LINC00364(dist=63669) chr13 67882850 67882850 A G het . 1 +intergenic LINC00364(dist=62067),LINC00550(dist=1419221) chr13 68016193 68016196 AAAC - het . 2 +intergenic LINC00364(dist=128988),LINC00550(dist=1352303) chr13 68083114 68083114 T G het . 3 +intergenic LINC00364(dist=832301),LINC00550(dist=648986) chr13 68786427 68786431 AAATA - het . 2 +intergenic LINC00364(dist=1030308),LINC00550(dist=450983) chr13 68984434 68984434 G C het . 2 +intergenic LINC00364(dist=1101186),LINC00550(dist=380104) chr13 69055312 69055313 AC CA het . 3 +intergenic LINC00364(dist=1225494),LINC00550(dist=255797) chr13 69179620 69179620 A T het . 1 +intergenic LINC00364(dist=1390611),LINC00550(dist=90680) chr13 69344737 69344737 T C het . 2 +intergenic LINC00364(dist=1390851),LINC00550(dist=90440) chr13 69344977 69344977 A G het . 2 +intergenic LINC00364(dist=1390863),LINC00550(dist=90428) chr13 69344989 69344989 C T het . 2 +intergenic LINC00550(dist=99913),LINC00383(dist=237108) chr13 69559370 69559370 T G het . 28 +intergenic LINC00550(dist=131845),LINC00383(dist=205176) chr13 69591302 69591302 C T het . 1 +intergenic LINC00550(dist=226198),LINC00383(dist=110823) chr13 69685655 69685655 G T het . 2 +intergenic LINC00383(dist=216656),KLHL1(dist=161838) chr13 70112887 70112887 A T het . 2 +intronic KLHL1 chr13 70390559 70390559 - TT het . 2 +intronic KLHL1 chr13 70535355 70535355 T A het . 4 +intronic KLHL1 chr13 70596035 70596035 T G het . 3 +exonic KLHL1 chr13 70681453 70681453 C T het . 23 +intergenic ATXN8OS(dist=54537),LINC00348(dist=820851) chr13 70768422 70768422 G C het . 2 +intergenic ATXN8OS(dist=54548),LINC00348(dist=820840) chr13 70768433 70768433 C G het . 2 +intergenic ATXN8OS(dist=94505),LINC00348(dist=780883) chr13 70808390 70808390 - AAAG het . 2 +intergenic ATXN8OS(dist=206413),LINC00348(dist=668975) chr13 70920298 70920298 A G het . 2 +intergenic ATXN8OS(dist=278665),LINC00348(dist=596723) chr13 70992550 70992550 A - het . 2 +intergenic ATXN8OS(dist=320388),LINC00348(dist=555000) chr13 71034273 71034273 G T het . 2 +intergenic ATXN8OS(dist=320392),LINC00348(dist=554996) chr13 71034277 71034277 G T het . 2 +intergenic ATXN8OS(dist=621189),LINC00348(dist=254199) chr13 71335074 71335074 T - het . 2 +intergenic ATXN8OS(dist=815208),LINC00348(dist=60180) chr13 71529093 71529093 C T het . 2 +intergenic ATXN8OS(dist=827401),LINC00348(dist=47987) chr13 71541286 71541286 A T het . 2 +ncRNA_intronic LINC00348 chr13 71616478 71616478 C A het . 1 +ncRNA_intronic LINC00348 chr13 71639734 71639734 A G het . 2 +ncRNA_intronic LINC00348 chr13 71708684 71708684 G A het . 1 +ncRNA_intronic LINC00348 chr13 71708691 71708691 G A het . 1 +intergenic LINC00348(dist=137464),DACH1(dist=132085) chr13 71880013 71880013 C G het . 2 +intergenic LINC00348(dist=151872),DACH1(dist=117677) chr13 71894421 71894421 T - het . 2 +intergenic LINC00348(dist=208630),DACH1(dist=60919) chr13 71951179 71951179 C T het . 1 +intergenic LINC00348(dist=261607),DACH1(dist=7939) chr13 72004156 72004159 TTTA - het . 2 +intergenic DACH1(dist=416984),MZT1(dist=424181) chr13 72858314 72858314 A G het . 2 +intergenic DACH1(dist=564472),MZT1(dist=276693) chr13 73005802 73005802 - A het . 2 +intergenic DACH1(dist=660285),MZT1(dist=180880) chr13 73101615 73101615 C T het . 2 +intronic BORA chr13 73312359 73312359 G T het . 3 +intronic DIS3 chr13 73351489 73351489 C A het . 15 +intronic PIBF1 chr13 73365160 73365160 G A het . 4 +intronic PIBF1 chr13 73548006 73548006 C A het . 11 +intergenic PIBF1(dist=2541),KLF5(dist=35982) chr13 73593132 73593132 - TC het . 1 +intergenic KLF5(dist=32473),LINC00392(dist=454228) chr13 73684153 73684153 G A het . 3 +intergenic KLF5(dist=32488),LINC00392(dist=454188) chr13 73684168 73684193 AACAAAACAAAACAAAAAAAGAAAAG - het . 3 +intergenic KLF5(dist=36327),LINC00392(dist=450374) chr13 73688007 73688007 C T het . 2 +intergenic KLF5(dist=153773),LINC00392(dist=332928) chr13 73805453 73805453 G A het . 1 +intergenic KLF5(dist=153787),LINC00392(dist=332914) chr13 73805467 73805467 G T het . 1 +intergenic KLF5(dist=167657),LINC00392(dist=319044) chr13 73819337 73819337 A G het . 2 +intergenic KLF5(dist=244197),LINC00392(dist=242504) chr13 73895877 73895877 T G het . 1 +intergenic KLF5(dist=251029),LINC00392(dist=235672) chr13 73902709 73902709 C A het . 3 +intergenic KLF5(dist=433323),LINC00392(dist=53378) chr13 74085003 74085003 T C het . 2 +ncRNA_intronic LINC00392 chr13 74156227 74156227 T - het . 2 +ncRNA_intronic LINC00392 chr13 74161711 74161711 G T het . 1 +intronic KLF12 chr13 74464639 74464639 T C het . 2 +intronic KLF12 chr13 74534245 74534245 G C het . 3 +intronic KLF12 chr13 74534247 74534247 A C het . 3 +intronic KLF12 chr13 74542950 74542950 T A het . 2 +intronic KLF12 chr13 74664316 74664316 A C het . 2 +intergenic LINC00402(dist=140000),LOC100288208(dist=12981) chr13 74974113 74974113 T - het . 2 +intergenic LINC00402(dist=140017),LOC100288208(dist=12964) chr13 74974130 74974130 C A het . 1 +intergenic LINC00347(dist=103110),CTAGE11P(dist=577521) chr13 75234367 75234368 GC - het . 3 +intergenic LINC00347(dist=103112),CTAGE11P(dist=577520) chr13 75234369 75234369 - TG het . 3 +intergenic LINC00347(dist=383588),CTAGE11P(dist=297044) chr13 75514845 75514845 G A het . 2 +intergenic LINC00347(dist=504581),CTAGE11P(dist=176051) chr13 75635838 75635838 G C het . 2 +ncRNA_exonic CTAGE11P chr13 75813875 75813875 G A het . 50 +intergenic LINC01078(dist=6096),TBC1D4(dist=26556) chr13 75832244 75832244 A - het . 2 +intergenic LINC01078(dist=6119),TBC1D4(dist=26533) chr13 75832267 75832267 G A het . 1 +exonic TBC1D4 chr13 75887003 75887003 T C het . 26 +intronic TBC1D4 chr13 75898118 75898118 C A het . 2 +intronic TBC1D4 chr13 75915215 75915217 TAT CCA het . 28 +intronic TBC1D4 chr13 75915250 75915250 - A het . 31 +intronic TBC1D4 chr13 75930173 75930173 C T het . 9 +exonic TBC1D4 chr13 76055820 76055820 G C het . 5 +exonic TBC1D4 chr13 76055826 76055826 G T het . 4 +UTR3 COMMD6(NM_203497:c.*86T>C,NM_001287392:c.*86T>C,NM_001287394:c.*86T>C,NM_001287393:c.*86T>C,NM_203495:c.*86T>C) chr13 76100639 76100639 A G het . 7 +UTR5 COMMD6(NM_001287392:c.-7327T>C,NM_001287393:c.-7327T>C) chr13 76111702 76111702 A G het . 9 +intronic UCHL3 chr13 76172617 76172617 G T het . 1 +intronic UCHL3 chr13 76172634 76172634 T C het . 2 +intronic LMO7 chr13 76260015 76260015 C T het . 3 +intronic LMO7 chr13 76351286 76351286 A G het . 2 +intergenic LINC00561(dist=171551),KCTD12(dist=773485) chr13 76680819 76680819 T G het . 1 +intergenic LINC00561(dist=360130),KCTD12(dist=584906) chr13 76869398 76869398 G A het . 2 +intergenic LINC00561(dist=531679),KCTD12(dist=413357) chr13 77040947 77040947 C T het . 1 +intergenic LINC00561(dist=636057),KCTD12(dist=308979) chr13 77145325 77145325 T C het . 2 +intergenic LINC00561(dist=715357),KCTD12(dist=229679) chr13 77224625 77224625 G A het . 1 +exonic CLN5 chr13 77566309 77566309 T C het . 18 +intronic CLN5 chr13 77574543 77574543 C A het . 14 +intronic CLN5 chr13 77574546 77574546 G T het . 14 +intronic MYCBP2 chr13 77644862 77644862 G - het . 14 +intronic MYCBP2 chr13 77644863 77644863 A C het . 14 +exonic MYCBP2 chr13 77662969 77662969 C A het . 20 +exonic MYCBP2 chr13 77670490 77670490 C A het . 15 +exonic MYCBP2 chr13 77672409 77672409 C A het . 25 +exonic MYCBP2 chr13 77672496 77672496 C A het . 38 +intronic MYCBP2 chr13 77697514 77697514 A C het . 1 +exonic MYCBP2 chr13 77759384 77759384 G T het . 22 +intronic MYCBP2 chr13 77785518 77785518 C A het . 9 +intronic SCEL chr13 78142654 78142654 A - het . 3 +intronic SCEL chr13 78186796 78186796 T G het . 6 +intronic SCEL chr13 78191824 78191824 G T het . 26 +intronic SCEL chr13 78211402 78211402 T C het . 1 +intronic SCEL chr13 78211685 78211685 A C het . 1 +exonic RNF219 chr13 79190379 79190379 C A het . 34 +intergenic RNF219(dist=102482),LINC00331(dist=25658) chr13 79335796 79335796 - A het . 5 +ncRNA_intronic LINC00331 chr13 79411859 79411859 A C het . 2 +intergenic LINC00331(dist=11495),RBM26(dist=467323) chr13 79425680 79425680 G A het . 2 +intergenic LINC00331(dist=319315),RBM26(dist=159503) chr13 79733500 79733500 G A het . 2 +intergenic LINC00331(dist=444328),RBM26(dist=34490) chr13 79858513 79858513 T G het . 2 +intronic RBM26 chr13 79894877 79894877 - A het . 9 +ncRNA_intronic RBM26-AS1 chr13 79985806 79985806 C A het . 2 +intergenic LINC01068(dist=87414),LINC01038(dist=145526) chr13 80232995 80232995 A G het . 2 +intergenic LINC01080(dist=35866),SPRY2(dist=273447) chr13 80636664 80636664 T A het . 2 +intergenic LINC01080(dist=95962),SPRY2(dist=213351) chr13 80696760 80696760 T G het . 2 +intergenic LINC01080(dist=245514),SPRY2(dist=63799) chr13 80846312 80846312 C T het . 2 +intergenic LINC01080(dist=252156),SPRY2(dist=57157) chr13 80852954 80852954 A G het . 1 +intergenic LINC01080(dist=252158),SPRY2(dist=57155) chr13 80852956 80852956 T G het . 1 +intergenic LINC01080(dist=252170),SPRY2(dist=57143) chr13 80852968 80852968 T C het . 2 +intergenic LINC01080(dist=300675),SPRY2(dist=8638) chr13 80901473 80901473 G A het . 3 +intergenic SPRY2(dist=86458),LINC00377(dist=590818) chr13 81001708 81001708 T C het . 2 +intergenic SPRY2(dist=86513),LINC00377(dist=590763) chr13 81001763 81001763 T G het . 2 +intergenic SPRY2(dist=171015),LINC00377(dist=506261) chr13 81086265 81086265 A G het . 2 +intergenic SPRY2(dist=188828),LINC00377(dist=488448) chr13 81104078 81104078 A G het . 2 +intergenic SPRY2(dist=211427),LINC00377(dist=465847) chr13 81126677 81126679 AAG - het . 4 +intergenic SPRY2(dist=537550),LINC00377(dist=139726) chr13 81452800 81452800 C G het . 1 +intergenic LINC00564(dist=40971),NONE(dist=NONE) chr13 81842089 81842089 T - het . 2 +intergenic LINC00564(dist=150445),NONE(dist=NONE) chr13 81951563 81951563 T C het . 2 +intergenic LINC00564(dist=193295),NONE(dist=NONE) chr13 81994413 81994413 G T het . 3 +intergenic LINC00564(dist=690612),SLITRK1(dist=1959610) chr13 82491730 82491730 G A het . 1 +intergenic LINC00564(dist=1030683),SLITRK1(dist=1619538) chr13 82831801 82831802 TG CA het . 2 +intergenic LINC00564(dist=1032985),SLITRK1(dist=1617237) chr13 82834103 82834103 C T het . 2 +intergenic LINC00564(dist=1166135),SLITRK1(dist=1484087) chr13 82967253 82967253 T C het . 2 +intergenic LINC00564(dist=1594546),SLITRK1(dist=1055676) chr13 83395664 83395664 T A het . 2 +intergenic LINC00564(dist=1746600),SLITRK1(dist=903622) chr13 83547718 83547718 C G het . 3 +intergenic LINC00564(dist=1898080),SLITRK1(dist=752142) chr13 83699198 83699198 T G het . 1 +intergenic NONE(dist=NONE),SLITRK1(dist=504611) chr13 83946729 83946729 C T het . 2 +intergenic NONE(dist=NONE),SLITRK1(dist=504584) chr13 83946756 83946756 T G het . 3 +intergenic NONE(dist=NONE),SLITRK1(dist=504551) chr13 83946789 83946789 C A het . 2 +intergenic SLITRK1(dist=33139),LINC00333(dist=225070) chr13 84489667 84489667 C T het . 2 +ncRNA_intronic LINC00333 chr13 84733246 84733246 A C het . 2 +ncRNA_intronic LINC00333 chr13 85066303 85066303 G A het . 2 +ncRNA_intronic LINC00333 chr13 85098690 85098690 C T het . 2 +intergenic LINC00333(dist=136639),SNORA107(dist=40247) chr13 85317542 85317542 A G het . 3 +intergenic LINC00333(dist=136669),SNORA107(dist=40217) chr13 85317572 85317572 - AG het . 3 +intergenic SNORA107(dist=229988),LINC00375(dist=51321) chr13 85587901 85587901 T A het . 2 +intergenic SNORA107(dist=268736),LINC00375(dist=12573) chr13 85626649 85626649 A G het . 3 +intergenic LINC00375(dist=33836),LINC00351(dist=181710) chr13 85756028 85756028 C T het . 2 +intergenic LINC00375(dist=90047),LINC00351(dist=125499) chr13 85812239 85812239 C A het . 2 +intergenic LINC00375(dist=90067),LINC00351(dist=125479) chr13 85812259 85812259 A C het . 1 +intergenic LINC00351(dist=10274),SLITRK6(dist=237851) chr13 86129071 86129071 T A het . 2 +intergenic LINC00351(dist=210797),SLITRK6(dist=37328) chr13 86329594 86329594 C A het . 2 +intergenic LINC00351(dist=222739),SLITRK6(dist=25386) chr13 86341536 86341536 G A het . 2 +intergenic LINC00351(dist=222749),SLITRK6(dist=25376) chr13 86341546 86341546 G A het . 2 +intergenic SLITRK6(dist=299783),LINC00430(dist=890909) chr13 86673266 86673266 C A het . 2 +intergenic SLITRK6(dist=329532),LINC00430(dist=861160) chr13 86703015 86703015 G A het . 2 +intergenic SLITRK6(dist=561336),LINC00430(dist=629356) chr13 86934819 86934819 C T het . 3 +intergenic LINC00430(dist=69924),MIR4500HG(dist=437256) chr13 87658986 87658986 A G het . 1 +intergenic LINC00430(dist=135777),MIR4500HG(dist=371400) chr13 87724839 87724842 CAAA - het . 3 +intergenic LINC00430(dist=264161),MIR4500HG(dist=243019) chr13 87853223 87853223 C T het . 1 +intergenic LINC00430(dist=350546),MIR4500HG(dist=156633) chr13 87939608 87939609 TA - het . 2 +intergenic LINC00430(dist=353679),MIR4500HG(dist=153501) chr13 87942741 87942741 T - het . 2 +ncRNA_intronic MIR4500HG chr13 88102603 88102603 C T het . 3 +intergenic LINC00397(dist=173941),LOC105370306(dist=158406) chr13 88636716 88636716 - G het . 9 +intergenic LINC00397(dist=297572),LOC105370306(dist=34775) chr13 88760347 88760347 G T het . 2 +intergenic LOC105370306(dist=22544),LINC00433(dist=282203) chr13 88910881 88910881 T - het . 2 +intergenic LOC105370306(dist=86738),LINC00433(dist=218009) chr13 88975075 88975075 G A het . 2 +intergenic LOC105370306(dist=123546),LINC00433(dist=181198) chr13 89011883 89011886 ATAT - het . 2 +intergenic LOC105370306(dist=156302),LINC00433(dist=148445) chr13 89044639 89044639 C T het . 1 +intergenic LOC105370306(dist=156339),LINC00433(dist=148408) chr13 89044676 89044676 A G het . 2 +intergenic LOC105370306(dist=179822),LINC00433(dist=124925) chr13 89068159 89068159 C T het . 2 +intergenic LOC105370306(dist=179829),LINC00433(dist=124918) chr13 89068166 89068166 G A het . 2 +intergenic LOC105370306(dist=256445),LINC00433(dist=48302) chr13 89144782 89144782 G T het . 2 +intergenic LINC00560(dist=523873),LINC01047(dist=60578) chr13 89806524 89806524 G T het . 2 +intergenic LINC00440(dist=21282),LINC01040(dist=176085) chr13 89953776 89953776 - ATC het . 4 +intergenic LINC00353(dist=429914),LINC00559(dist=65920) chr13 90646581 90646581 T C het . 1 +ncRNA_intronic LINC00559 chr13 90717960 90717960 G A het . 1 +ncRNA_intronic LINC00559 chr13 90764737 90764737 A G het . 3 +intergenic LINC00559(dist=51888),MIR622(dist=59577) chr13 90823859 90823859 C T het . 11 +intergenic LINC00559(dist=51924),MIR622(dist=59541) chr13 90823895 90823895 C A het . 11 +intergenic MIR622(dist=123183),LINC01049(dist=138828) chr13 91006714 91006714 A G het . 2 +ncRNA_intronic LINC01049 chr13 91149010 91149010 - TAAT het . 2 +ncRNA_intronic LINC01049 chr13 91152021 91152021 G A het . 1 +ncRNA_intronic LINC01049 chr13 91161150 91161150 T G het . 2 +intergenic LINC01049(dist=126307),LINC00410(dist=229306) chr13 91313902 91313902 G T het . 2 +intergenic LINC01049(dist=126328),LINC00410(dist=229285) chr13 91313923 91313923 T A het . 2 +intergenic LINC01049(dist=184424),LINC00410(dist=171189) chr13 91372019 91372019 G T het . 2 +intergenic MIR17HG(dist=7115),GPC5(dist=36929) chr13 92013944 92013944 G A het . 1 +intronic GPC5 chr13 92378320 92378320 A T het . 3 +intronic GPC5 chr13 92378322 92378322 C T het . 3 +intronic GPC5 chr13 92380655 92380655 C A het . 6 +intronic GPC5 chr13 92622041 92622041 A C het . 2 +intronic GPC5 chr13 92768524 92768524 A - het . 2 +intronic GPC5 chr13 92768528 92768528 A C het . 2 +intronic GPC5 chr13 93088955 93088955 G A het . 3 +intronic GPC5 chr13 93507016 93507016 C T het . 3 +intergenic GPC5(dist=25538),LINC00363(dist=152569) chr13 93545025 93545025 G A het . 2 +intergenic GPC5(dist=34007),LINC00363(dist=144100) chr13 93553494 93553494 A G het . 1 +intergenic GPC5(dist=152027),LINC00363(dist=26080) chr13 93671514 93671514 A G het . 3 +intergenic LINC00363(dist=156619),GPC6(dist=12263) chr13 93866798 93866798 T C het . 1 +intronic GPC6 chr13 94139197 94139197 A - het . 3 +intronic GPC6 chr13 94157481 94157481 T C het . 2 +intronic GPC6 chr13 94170429 94170429 C G het . 3 +intronic GPC6 chr13 94253220 94253220 G A het . 2 +intronic GPC6 chr13 94380457 94380457 - TTTG het . 4 +intronic GPC6 chr13 94416206 94416206 A G het . 1 +ncRNA_intronic GPC6-AS2 chr13 94482884 94482884 A C het . 7 +intronic GPC6 chr13 94534400 94534400 A G het . 3 +intronic GPC6 chr13 94573380 94573380 G T het . 2 +intronic TGDS chr13 95239407 95239407 T A het . 1 +intronic TGDS chr13 95239427 95239427 - A het . 2 +intronic TGDS chr13 95239432 95239432 C G het . 2 +exonic GPR180 chr13 95271496 95271496 G A het . 15 +intronic GPR180 chr13 95273125 95273125 A T het . 8 +intergenic LINC00557(dist=1038),ABCC4(dist=57471) chr13 95614611 95614612 AA - het . 3 +intronic ABCC4 chr13 95674164 95674164 C T het . 1 +intronic ABCC4 chr13 95709072 95709072 T C het . 2 +intronic ABCC4 chr13 95714762 95714763 AG - het . 2 +intronic ABCC4 chr13 95735604 95735604 G T het . 12 +intronic ABCC4 chr13 95906619 95906619 A - het . 4 +intergenic ABCC4(dist=42396),CLDN10(dist=89757) chr13 95996096 95996096 C T het . 2 +intergenic ABCC4(dist=61892),CLDN10(dist=70261) chr13 96015592 96015592 T A het . 2 +intronic CLDN10 chr13 96105324 96105324 G T het . 3 +intronic CLDN10 chr13 96106693 96106694 AG - het . 2 +intronic CLDN10 chr13 96126672 96126672 A G het . 2 +intronic CLDN10 chr13 96129747 96129747 A G het . 1 +intronic CLDN10 chr13 96129770 96129770 G A het . 3 +intronic DZIP1 chr13 96247629 96247629 A - het . 1 +intronic DZIP1 chr13 96293523 96293523 A C het . 4 +intronic DNAJC3 chr13 96367727 96367727 G A het . 2 +intronic DNAJC3 chr13 96381436 96381437 TC - het . 2 +intronic UGGT2 chr13 96512974 96512974 T - het . 11 +intronic UGGT2 chr13 96540141 96540141 T C het . 19 +intronic UGGT2 chr13 96540143 96540143 T C het . 19 +intronic UGGT2 chr13 96578189 96578189 G A het . 7 +intronic HS6ST3 chr13 96826842 96826842 T C het . 1 +intronic HS6ST3 chr13 97089491 97089491 C G het . 2 +intronic HS6ST3 chr13 97303173 97303173 T C het . 2 +intronic HS6ST3 chr13 97338874 97338874 C T het . 1 +intergenic HS6ST3(dist=91970),LINC00359(dist=9749) chr13 97583786 97583786 A C het . 3 +UTR5 OXGR1(NM_080818:c.-34C>T,NM_001346195:c.-34C>T,NM_001346194:c.-34C>T) chr13 97640047 97640047 G A het . 5 +intronic MBNL2 chr13 98019036 98019036 C T het . 4 +intergenic RAP2A(dist=153044),IPO5(dist=332633) chr13 98273296 98273296 G C het . 3 +intergenic RAP2A(dist=325334),IPO5(dist=160343) chr13 98445586 98445586 C T het . 2 +intergenic RAP2A(dist=384829),IPO5(dist=100848) chr13 98505081 98505081 G C het . 2 +intergenic RAP2A(dist=384832),IPO5(dist=100845) chr13 98505084 98505084 T A het . 2 +intronic IPO5 chr13 98626488 98626488 T C het . 2 +intronic IPO5 chr13 98632349 98632349 A G het . 3 +intronic IPO5 chr13 98641577 98641577 A T het . 5 +intergenic IPO5(dist=69254),FARP1(dist=49012) chr13 98745804 98745804 A G het . 2 +UTR3 RNF113B(NM_178861:c.*157A>T) chr13 98828260 98828260 T A het . 2 +intronic FARP1 chr13 98834823 98834823 T C het . 2 +intronic FARP1 chr13 99029596 99029596 T G het . 2 +intronic FARP1 chr13 99040807 99040807 C T het . 9 +exonic FARP1 chr13 99042272 99042272 G A het . 19 +intronic FARP1 chr13 99061502 99061502 C A het . 6 +intronic STK24 chr13 99115927 99115927 A G het . 4 +intronic STK24 chr13 99134321 99134321 A - het . 3 +intergenic STK24-AS1(dist=27873),SLC15A1(dist=77087) chr13 99258968 99258968 T A het . 2 +intronic SLC15A1 chr13 99354931 99354931 C T het . 3 +exonic SLC15A1 chr13 99374120 99374120 C T het . 9 +intronic DOCK9 chr13 99461533 99461537 TTTTT - het . 12 +intronic DOCK9 chr13 99498289 99498289 C A het . 15 +intronic DOCK9 chr13 99555445 99555445 G A het . 13 +intronic DOCK9 chr13 99566730 99566730 C T het . 7 +intronic DOCK9 chr13 99574524 99574524 C T het . 3 +intronic DOCK9 chr13 99607581 99607581 T A het . 6 +intronic DOCK9 chr13 99732056 99732056 T G het . 1 +intergenic DOCK9-DT(dist=26371),UBAC2-AS1(dist=81378) chr13 99767250 99767250 G T het . 4 +intronic UBAC2 chr13 99860249 99860249 T C het . 1 +intronic UBAC2 chr13 99985278 99985278 G A het . 2 +intronic TM9SF2 chr13 100181915 100181915 A G het . 10 +ncRNA_intronic LOC101927437 chr13 100517028 100517028 G A het . 9 +ncRNA_intronic LOC101927437 chr13 100517178 100517179 TC - het . 27 +ncRNA_intronic LOC101927437 chr13 100517196 100517197 TG - het . 29 +ncRNA_intronic LOC101927437 chr13 100523386 100523386 T C het . 11 +ncRNA_intronic LOC101927437 chr13 100537376 100537376 G A het . 5 +intronic ZIC2 chr13 100637102 100637102 T C het . 6 +UTR3 ZIC2(NM_007129:c.*257A>T) chr13 100638193 100638193 A T het . 5 +intergenic LINC00554(dist=46409),LOC105370333(dist=41713) chr13 100696572 100696572 C A het . 1 +intronic PCCA chr13 100888718 100888718 C T het . 2 +intronic PCCA chr13 100992381 100992392 TTGATTGATTGG - het . 27 +exonic PCCA chr13 101101556 101101556 A G het . 17 +intronic TMTC4 chr13 101287018 101287018 C A het . 8 +intronic TMTC4 chr13 101308837 101308837 C - het . 5 +ncRNA_intronic NALCN-AS1 chr13 101364459 101364459 C A het . 2 +ncRNA_intronic NALCN-AS1 chr13 101372897 101372897 C T het . 4 +ncRNA_intronic NALCN-AS1 chr13 101390199 101390199 A C het . 2 +ncRNA_intronic NALCN-AS1 chr13 101631966 101631966 C A het . 2 +ncRNA_intronic NALCN-AS1 chr13 101631987 101631987 A C het . 4 +intronic NALCN chr13 101753023 101753023 - TG het . 10 +intronic NALCN chr13 101753026 101753026 T - het . 10 +intronic NALCN chr13 101841045 101841045 A T het . 3 +exonic NALCN chr13 102029292 102029292 C A het . 29 +intergenic NALCN(dist=4949),ITGBL1(dist=31136) chr13 102073808 102073808 C T het . 4 +intronic FGF14 chr13 102449766 102449766 T G het . 2 +intronic FGF14 chr13 102525011 102525011 G A het . 2 +intronic FGF14 chr13 102670387 102670387 G T het . 16 +intergenic FGF14(dist=27356),TPP2(dist=167152) chr13 103082134 103082134 C T het . 2 +intergenic FGF14(dist=112398),TPP2(dist=82110) chr13 103167176 103167176 A G het . 2 +intronic TPP2 chr13 103257298 103257298 T - het . 13 +intronic TPP2 chr13 103271206 103271206 G A het . 2 +intronic TPP2 chr13 103301602 103301602 T - het . 7 +intronic TPP2 chr13 103301619 103301619 - T het . 6 +exonic METTL21C chr13 103346806 103346806 C G het . 15 +exonic CCDC168 chr13 103385367 103385367 C A het . 25 +exonic CCDC168 chr13 103389576 103389576 C A het . 27 +exonic CCDC168 chr13 103392215 103392215 T A het . 38 +exonic CCDC168 chr13 103397567 103397567 A G het . 39 +exonic CCDC168 chr13 103397583 103397583 C G het . 41 +exonic CCDC168 chr13 103401383 103401383 T A het . 29 +intronic TEX30 chr13 103418947 103418947 G A het . 20 +intronic BIVM-ERCC5,ERCC5 chr13 103506768 103506768 C A het . 18 +intronic BIVM-ERCC5,ERCC5 chr13 103511301 103511301 T C het . 5 +intergenic METTL21EP(dist=82588),SLC10A2(dist=65377) chr13 103630971 103630971 G A het . 2 +intergenic METTL21EP(dist=129822),SLC10A2(dist=18143) chr13 103678205 103678205 C T het . 2 +UTR3 SLC10A2(NM_000452:c.*47C>T) chr13 103698436 103698436 G A het . 22 +intergenic SLC10A2(dist=125976),LINC01309(dist=232378) chr13 103845172 103845172 T C het . 2 +intergenic SLC10A2(dist=309596),LINC01309(dist=48758) chr13 104028792 104028792 G A het . 2 +intergenic LINC01309(dist=95269),DAOA-AS1(dist=1936102) chr13 104175304 104175304 A G het . 1 +intergenic LINC01309(dist=168860),DAOA-AS1(dist=1862511) chr13 104248895 104248895 A T het . 2 +intergenic LINC01309(dist=254163),DAOA-AS1(dist=1777208) chr13 104334198 104334198 G A het . 1 +intergenic LINC01309(dist=537883),DAOA-AS1(dist=1493488) chr13 104617918 104617918 A G het . 1 +intergenic LINC01309(dist=611159),DAOA-AS1(dist=1420212) chr13 104691194 104691194 A T het . 1 +intergenic LINC01309(dist=675802),DAOA-AS1(dist=1355569) chr13 104755837 104755837 A - het . 5 +intergenic LINC01309(dist=940623),DAOA-AS1(dist=1090748) chr13 105020658 105020658 A G het . 2 +intergenic LINC01309(dist=1202813),DAOA-AS1(dist=828558) chr13 105282848 105282848 A G het . 3 +intergenic LINC01309(dist=1202834),DAOA-AS1(dist=828537) chr13 105282869 105282869 T G het . 3 +intergenic LINC01309(dist=1295635),DAOA-AS1(dist=735736) chr13 105375670 105375670 A - het . 2 +intergenic LINC01309(dist=1326653),DAOA-AS1(dist=704718) chr13 105406688 105406688 C G het . 1 +intergenic LINC01309(dist=1428472),DAOA-AS1(dist=602899) chr13 105508507 105508507 G T het . 15 +intergenic LINC01309(dist=1490600),DAOA-AS1(dist=540771) chr13 105570635 105570635 C T het . 1 +intergenic LINC01309(dist=1634866),DAOA-AS1(dist=396505) chr13 105714901 105714901 A G het . 2 +intergenic LINC01309(dist=1637081),DAOA-AS1(dist=394290) chr13 105717116 105717116 A T het . 2 +intergenic LINC01309(dist=1694606),DAOA-AS1(dist=336765) chr13 105774641 105774641 A C het . 2 +intergenic LINC01309(dist=1741333),DAOA-AS1(dist=290038) chr13 105821368 105821368 C T het . 1 +intergenic LINC01309(dist=1985326),DAOA-AS1(dist=46045) chr13 106065361 106065361 C T het . 2 +intergenic DAOA-AS1(dist=45145),LINC00343(dist=156004) chr13 106203175 106203175 C A het . 2 +intergenic LINC00343(dist=231037),LINC00460(dist=383726) chr13 106645182 106645185 CTTT - het . 2 +intergenic LINC00343(dist=241941),LINC00460(dist=372825) chr13 106656086 106656086 - GTTT het . 3 +intergenic LINC00343(dist=331505),LINC00460(dist=283261) chr13 106745650 106745650 A - het . 2 +intergenic LINC00343(dist=433604),LINC00460(dist=181162) chr13 106847749 106847749 A G het . 1 +intergenic LINC00343(dist=441597),LINC00460(dist=173169) chr13 106855742 106855742 - A het . 3 +intergenic LINC00343(dist=544331),LINC00460(dist=70435) chr13 106958476 106958476 T A het . 2 +intergenic LINC00343(dist=559022),LINC00460(dist=55744) chr13 106973167 106973167 T C het . 1 +intergenic LINC00460(dist=40703),EFNB2(dist=71234) chr13 107070845 107070845 T C het . 2 +intergenic LINC00460(dist=51953),EFNB2(dist=59984) chr13 107082095 107082095 - C het . 2 +intergenic LINC00443(dist=42570),FAM155A(dist=453781) chr13 107367098 107367098 - CTG het . 10 +intergenic LINC00443(dist=191861),FAM155A(dist=304490) chr13 107516389 107516389 C T het . 10 +intergenic LINC00443(dist=192042),FAM155A(dist=304309) chr13 107516570 107516570 A G het . 15 +intergenic LINC00443(dist=340792),FAM155A(dist=155559) chr13 107665320 107665320 G A het . 1 +intronic FAM155A chr13 107870960 107870960 - AAAC het . 2 +intronic FAM155A chr13 108107760 108107760 G A het . 2 +intronic FAM155A chr13 108274820 108274822 AAA - het . 2 +intronic FAM155A chr13 108274825 108274825 A C het . 2 +intronic FAM155A chr13 108338771 108338771 G T het . 2 +intronic FAM155A chr13 108353033 108353033 G A het . 4 +intronic FAM155A chr13 108413713 108413713 A - het . 2 +ncRNA_intronic FAM155A-IT1 chr13 108462960 108462960 C T het . 2 +intronic FAM155A chr13 108503702 108503702 T C het . 2 +intronic FAM155A chr13 108503704 108503704 C - het . 2 +exonic FAM155A chr13 108518716 108518727 GCTGCTGCTGCT - het . 28 +intergenic FAM155A(dist=35592),LIG4(dist=304739) chr13 108555052 108555052 C A het . 2 +intergenic FAM155A(dist=119567),LIG4(dist=220764) chr13 108639027 108639027 T C het . 2 +intergenic FAM155A(dist=141057),LIG4(dist=199274) chr13 108660517 108660517 - TG het . 1 +intergenic FAM155A(dist=141070),LIG4(dist=199261) chr13 108660530 108660530 - T het . 1 +intergenic FAM155A(dist=141080),LIG4(dist=199251) chr13 108660540 108660540 A G het . 2 +intergenic FAM155A(dist=141119),LIG4(dist=199210) chr13 108660579 108660581 TCT - het . 2 +intergenic FAM155A(dist=141135),LIG4(dist=199196) chr13 108660595 108660595 C G het . 2 +intergenic FAM155A(dist=143801),LIG4(dist=196530) chr13 108663261 108663261 G T het . 1 +intergenic FAM155A(dist=209485),LIG4(dist=130846) chr13 108728945 108728945 T C het . 4 +exonic ABHD13 chr13 108882244 108882244 C A het . 23 +intronic TNFSF13B chr13 108955464 108955464 C G het . 9 +intergenic TNFSF13B(dist=77142),MYO16(dist=210526) chr13 109037974 109037974 G C het . 2 +intronic MYO16 chr13 109265714 109265714 C A het . 1 +intronic MYO16 chr13 109475668 109475668 C A het . 7 +intronic MYO16 chr13 109477955 109477955 G A het . 2 +intronic MYO16 chr13 109486160 109486160 A T het . 2 +intronic MYO16 chr13 109813010 109813010 G C het . 1 +intergenic MYO16(dist=25188),LINC00399(dist=167500) chr13 109885543 109885543 - TTT het . 2 +intergenic MYO16(dist=138150),LINC00399(dist=54538) chr13 109998505 109998505 A G het . 2 +intergenic LINC00399(dist=195897),LINC00676(dist=130738) chr13 110249883 110249883 C T het . 2 +intergenic LINC00676(dist=22746),IRS2(dist=1057) chr13 110405127 110405127 G C het . 2 +intronic COL4A1 chr13 110807474 110807474 T C het . 5 +intronic COL4A1 chr13 110807496 110807496 T C het . 5 +intronic COL4A1 chr13 110810963 110810963 T A het . 2 +intronic COL4A1 chr13 110819457 110819457 A G het . 16 +intronic COL4A1 chr13 110819460 110819460 G A het . 16 +intronic COL4A1 chr13 110821874 110821874 T C het . 4 +exonic COL4A1 chr13 110850952 110850952 C A het . 41 +intronic COL4A1 chr13 110855677 110855677 G T het . 4 +intronic COL4A1 chr13 110895150 110895150 A G het . 18 +intronic COL4A1 chr13 110940610 110940612 AAA - het . 2 +intronic COL4A2 chr13 111077450 111077450 G A het . 13 +intronic COL4A2 chr13 111082058 111082058 T C het . 2 +intronic COL4A2 chr13 111091157 111091157 C A het . 3 +intronic COL4A2 chr13 111098338 111098338 A T het . 6 +exonic COL4A2-AS2 chr13 111109157 111109157 G A het . 16 +intronic COL4A2 chr13 111137427 111137427 G A het . 9 +ncRNA_intronic COL4A2-AS1 chr13 111155428 111155428 C T het . 7 +intergenic RAB20(dist=8437),NAXD(dist=45286) chr13 111222521 111222521 G A het . 1 +exonic CARS2 chr13 111296822 111296822 T C het . 29 +exonic ING1 chr13 111368164 111368164 T G het . 10 +intergenic LINC00567(dist=10105),LINC00346(dist=40798) chr13 111475536 111475536 - TT het . 2 +intronic ANKRD10 chr13 111532673 111532673 G A het . 2 +UTR5 ANKRD10(NM_017664:c.-104A>G,NM_001286721:c.-104A>G) chr13 111567385 111567385 T C het . 4 +intergenic ANKRD10(dist=20596),LINC00431(dist=30324) chr13 111588050 111588050 T C het . 3 +intergenic ANKRD10(dist=23096),LINC00431(dist=27824) chr13 111590550 111590550 A G het . 24 +intergenic LINC00431(dist=26506),LINC00368(dist=78730) chr13 111669455 111669455 G A het . 2 +intergenic LINC00431(dist=48721),LINC00368(dist=56515) chr13 111691670 111691670 T C het . 2 +intronic TEX29 chr13 111968680 111968680 C T het . 8 +intergenic TEX29(dist=38860),LINC02337(dist=212902) chr13 112035454 112035454 T C het . 2 +intergenic TEX29(dist=48091),LINC02337(dist=203671) chr13 112044685 112044685 A - het . 2 +intergenic TEX29(dist=177450),LINC02337(dist=74312) chr13 112174044 112174044 A G het . 2 +ncRNA_intronic LINC02337 chr13 112279737 112279737 A C het . 1 +ncRNA_intronic LINC02337 chr13 112281423 112281423 C T het . 2 +intergenic LINC00354(dist=63112),SOX1-OT(dist=8022) chr13 112618602 112618602 A T het . 2 +intergenic LINC01044(dist=40006),SPACA7(dist=5106) chr13 113025545 113025545 - A het . 4 +intronic TUBGCP3 chr13 113157710 113157710 G C het . 1 +intronic TUBGCP3 chr13 113224134 113224134 G A het . 2 +intronic TUBGCP3 chr13 113231228 113231228 A C het . 1 +intronic ATP11AUN chr13 113314382 113314382 C G het . 1 +intronic ATP11AUN chr13 113314549 113314558 TTGTTTTGTT - het . 4 +intronic ATP11AUN chr13 113324890 113324890 T - het . 3 +intronic ATP11A chr13 113352911 113352911 A G het . 2 +intronic MCF2L chr13 113749097 113749097 C A het . 2 +exonic F10 chr13 113803448 113803448 A G het . 41 +intronic PROZ chr13 113818708 113818708 A T het . 12 +intergenic PROZ(dist=4083),PCID2(dist=1072) chr13 113830781 113830781 A G het . 1 +intronic PCID2 chr13 113851633 113851633 A G het . 3 +UTR5 PCID2(NM_001353094:c.-2137G>A,NM_001353093:c.-2137G>A) chr13 113854715 113854715 C T het . 11 +intronic CUL4A chr13 113915249 113915249 T C het . 2 +intergenic CUL4A(dist=10347),LAMP1(dist=19700) chr13 113931769 113931769 G T het . 4 +intergenic CUL4A(dist=15358),LAMP1(dist=14689) chr13 113936780 113936780 G A het . 2 +intronic LAMP1 chr13 113961013 113961013 C A het . 4 +exonic LAMP1 chr13 113965176 113965176 C A het . 6 +UTR3 LAMP1(NM_005561:c.*830A>T) chr13 113977566 113977566 A T het . 2 +intronic GRTP1 chr13 114018038 114018038 C A het . 5 +intronic GRTP1 chr13 114018277 114018277 T G het . 11 +intronic TFDP1 chr13 114240068 114240068 T - het . 4 +intronic ATP4B chr13 114312332 114312332 C T het . 6 +exonic ATP4B chr13 114312354 114312354 T G het . 13 +ncRNA_exonic LINC00552 chr13 114453605 114453605 - TGTGTGCACG het . 8 +ncRNA_exonic LINC00552 chr13 114453873 114453873 G C het . 14 +ncRNA_exonic LINC00552 chr13 114453912 114453912 C T het . 9 +intronic GAS6 chr13 114549975 114549975 G A het . 4 +intronic RASA3 chr13 114758206 114758206 C T het . 8 +intronic RASA3 chr13 114774813 114774813 C T het . 5 +exonic RASA3 chr13 114782779 114782779 G A het . 32 +intronic RASA3 chr13 114789571 114789571 G T het . 1 +intronic CDC16 chr13 115004335 115004335 T - het . 7 +intergenic NONE(dist=NONE),OR11H12(dist=376803) chr14 19000791 19000791 G C het . 1 +intergenic NONE(dist=NONE),OR11H12(dist=333016) chr14 19044578 19044578 T C het . 2 +intergenic NONE(dist=NONE),OR11H12(dist=257619) chr14 19119975 19119975 T G het . 1 +intergenic LINC02297(dist=1638),POTEG(dist=141616) chr14 19411749 19411749 C T het . 6 +intergenic DUXAP10(dist=113663),DUXAP9(dist=73630) chr14 19806579 19806579 G A het . 24 +intergenic POTEM(dist=117312),OR11H2(dist=43479) chr14 20137584 20137584 G A het . 14 +intergenic OR11H2(dist=12844),OR4Q3(dist=20252) chr14 20195335 20195335 G A het . 1 +intergenic OR11H2(dist=19050),OR4Q3(dist=14046) chr14 20201541 20201541 C T het . 19 +exonic OR4K1 chr14 20404340 20404340 A G het . 30 +exonic OR4K15 chr14 20444166 20444166 T G het . 18 +exonic OR4K15 chr14 20444193 20444193 A C het . 9 +splicing OR4Q2(NM_001348271:exon1:c.531+1T>-,NM_001348271:exon2:c.532-1T>-) chr14 20470853 20470853 T - het . 20 +exonic OR4K17 chr14 20586432 20586432 C T het . 13 +exonic OR11G2 chr14 20666175 20666175 - A het . 19 +exonic OR11H6 chr14 20692291 20692291 C T het . 17 +intergenic TTC5(dist=1033),CCNB1IP1(dist=4341) chr14 20775186 20775186 T A het . 2 +intronic CCNB1IP1 chr14 20784117 20784117 A G het . 5 +intronic PARP2 chr14 20815013 20815013 C T het . 22 +intronic PARP2 chr14 20815233 20815233 G A het . 8 +UTR3 TEP1(NM_001319035:c.*1119C>G,NM_007110:c.*1119C>G) chr14 20835477 20835477 G C het . 1 +intronic OSGEP chr14 20920360 20920360 - G het . 1 +intronic APEX1 chr14 20923731 20923731 C T het . 16 +exonic APEX1 chr14 20925667 20925667 A C het . 27 +intronic PNP chr14 20942838 20942838 C A het . 23 +intergenic RNASE10(dist=13514),RNASE9(dist=31457) chr14 20992795 20992795 T G het . 10 +intronic METTL17 chr14 21463474 21463474 G A het . 3 +exonic SLC39A2 chr14 21467913 21467913 T G het . 13 +exonic SLC39A2 chr14 21467934 21467934 G A het . 17 +intronic NDRG2,TPPP2 chr14 21499063 21499063 A G het . 2 +intronic NDRG2,TPPP2 chr14 21499072 21499072 T C het . 3 +intronic ARHGEF40 chr14 21542077 21542077 A C het . 4 +intronic ARHGEF40 chr14 21556674 21556674 - A het . 2 +exonic ZNF219 chr14 21560695 21560695 C A het . 30 +intergenic ZNF219(dist=9360),OR5AU1(dist=40873) chr14 21582223 21582223 - GTTG het . 2 +intergenic ZNF219(dist=30604),OR5AU1(dist=19629) chr14 21603467 21603467 - C het . 3 +intergenic ZNF219(dist=30614),OR5AU1(dist=19619) chr14 21603477 21603477 - C het . 4 +intergenic OR5AU1(dist=7778),LINC00641(dist=36276) chr14 21631962 21631962 G T het . 5 +intronic HNRNPC chr14 21679756 21679756 G A het . 4 +intronic SUPT16H chr14 21825924 21825924 T C het . 4 +intronic SUPT16H chr14 21833186 21833186 A G het . 27 +intronic SUPT16H chr14 21838111 21838111 T C het . 6 +exonic CHD8 chr14 21878114 21878114 G A het . 18 +exonic CHD8 chr14 21897441 21897441 G A het . 4 +intergenic CHD8(dist=4592),RAB2B(dist=17130) chr14 21910049 21910049 - AAAC het . 8 +intronic TOX4 chr14 21960408 21960408 A G het . 11 +intronic TOX4 chr14 21964624 21964624 A - het . 8 +exonic METTL3 chr14 21971694 21971694 C G het . 10 +intergenic SALL2(dist=3769),OR10G3(dist=28815) chr14 22009119 22009119 G A het . 3 +intergenic OR10G3(dist=14988),OR10G2(dist=48129) chr14 22053863 22053863 G A het . 2 +intergenic OR10G3(dist=23350),OR10G2(dist=39767) chr14 22062225 22062225 A - het . 2 +intergenic OR10G3(dist=42169),OR10G2(dist=20948) chr14 22081044 22081044 C G het . 1 +intergenic OR4E1(dist=52874),LOC105370401(dist=655702) chr14 22192106 22192106 A G het . 3 +intergenic OR4E1(dist=140967),LOC105370401(dist=567609) chr14 22280199 22280199 C T het . 2 +intergenic OR4E1(dist=175575),LOC105370401(dist=533001) chr14 22314807 22314807 C G het . 3 +intergenic OR4E1(dist=198064),LOC105370401(dist=510512) chr14 22337296 22337296 C A het . 10 +intergenic OR4E1(dist=217319),LOC105370401(dist=491257) chr14 22356551 22356551 T C het . 30 +intergenic OR4E1(dist=217339),LOC105370401(dist=491237) chr14 22356571 22356571 A C het . 25 +intergenic OR4E1(dist=231989),LOC105370401(dist=476587) chr14 22371221 22371221 G T het . 5 +intergenic OR4E1(dist=232014),LOC105370401(dist=476562) chr14 22371246 22371246 A G het . 5 +intergenic OR4E1(dist=253018),LOC105370401(dist=455558) chr14 22392250 22392250 C T het . 5 +intergenic OR4E1(dist=253051),LOC105370401(dist=455525) chr14 22392283 22392283 G A het . 9 +intergenic OR4E1(dist=253072),LOC105370401(dist=455504) chr14 22392304 22392304 G A het . 13 +intergenic OR4E1(dist=270307),LOC105370401(dist=438269) chr14 22409539 22409539 C T het . 3 +intergenic OR4E1(dist=270339),LOC105370401(dist=438237) chr14 22409571 22409571 A G het . 8 +intergenic OR4E1(dist=336907),LOC105370401(dist=371667) chr14 22476139 22476141 GGT - het . 5 +intergenic OR4E1(dist=336911),LOC105370401(dist=371664) chr14 22476143 22476144 AC TT het . 5 +intergenic OR4E1(dist=336915),LOC105370401(dist=371661) chr14 22476147 22476147 A - het . 5 +intergenic OR4E1(dist=522452),LOC105370401(dist=186124) chr14 22661684 22661684 T G het . 1 +intergenic OR4E1(dist=522455),LOC105370401(dist=186121) chr14 22661687 22661687 G A het . 1 +intergenic OR4E1(dist=523010),LOC105370401(dist=185566) chr14 22662242 22662242 T G het . 1 +intergenic OR4E1(dist=523023),LOC105370401(dist=185553) chr14 22662255 22662255 C T het . 2 +intergenic OR4E1(dist=550423),LOC105370401(dist=158153) chr14 22689655 22689655 C A het . 3 +intergenic OR4E1(dist=550509),LOC105370401(dist=158067) chr14 22689741 22689741 A - het . 4 +intergenic OR4E1(dist=550534),LOC105370401(dist=158042) chr14 22689766 22689766 C A het . 10 +intergenic OR4E1(dist=632697),LOC105370401(dist=75879) chr14 22771929 22771929 - A het . 16 +ncRNA_exonic LOC105370401 chr14 22887460 22887460 G - het . 35 +ncRNA_intronic LOC105370401 chr14 22946959 22946959 G C het . 14 +intergenic LOC105370401(dist=18190),LINC02332(dist=55067) chr14 22970138 22970138 T - het . 2 +intergenic LOC105370401(dist=18561),LINC02332(dist=54696) chr14 22970509 22970509 C A het . 6 +intergenic LOC105370401(dist=20794),LINC02332(dist=52463) chr14 22972742 22972742 G A het . 15 +intergenic LOC105370401(dist=46643),LINC02332(dist=26614) chr14 22998591 22998591 G - het . 14 +intergenic LOC105370401(dist=46672),LINC02332(dist=26585) chr14 22998620 22998620 C - het . 16 +intergenic LOC105370401(dist=52762),LINC02332(dist=20495) chr14 23004710 23004710 G T het . 11 +intergenic LOC105370401(dist=52800),LINC02332(dist=20457) chr14 23004748 23004748 T - het . 4 +intergenic LOC105370401(dist=52824),LINC02332(dist=20433) chr14 23004772 23004772 - A het . 2 +intergenic LOC105370401(dist=54715),LINC02332(dist=18542) chr14 23006663 23006663 - C het . 4 +intergenic LOC105370401(dist=54726),LINC02332(dist=18531) chr14 23006674 23006674 G C het . 6 +upstream LINC02332(dist=413) chr14 23026369 23026369 - G het . 3 +UTR5 OR6J1(NM_001348233:c.-27G>A) chr14 23103743 23103743 C T het . 3 +intergenic OR6J1(dist=94332),OXA1L(dist=37650) chr14 23198081 23198081 A G het . 2 +exonic OXA1L chr14 23240328 23240328 T A het . 12 +exonic OXA1L chr14 23240713 23240713 - AGC het . 22 +exonic SLC7A7 chr14 23282449 23282449 C T het . 5 +intronic SLC7A7 chr14 23286343 23286343 T A het . 1 +upstream MRPL52(dist=83) chr14 23299009 23299009 - C het . 4 +exonic MMP14 chr14 23315085 23315085 T G het . 12 +exonic RBM23 chr14 23371255 23371255 - GGC het . 14 +intronic RBM23 chr14 23371780 23371780 T C het . 1 +intronic PRMT5 chr14 23396917 23396917 T - het . 3 +exonic HAUS4 chr14 23420782 23420782 T C het . 24 +intronic PSMB5 chr14 23496861 23496861 A - het . 4 +intronic ACIN1 chr14 23532865 23532865 A G het . 4 +exonic ACIN1 chr14 23548787 23548787 - GTGAAT het . 9 +exonic ACIN1 chr14 23549379 23549380 CG GA het . 26 +intronic ACIN1 chr14 23550887 23550887 C A het . 6 +intronic LMLN2 chr14 23573521 23573521 T C het . 2 +exonic LMLN2 chr14 23574113 23574113 A - het . 8 +exonic LMLN2 chr14 23574115 23574116 CA - het . 8 +intergenic SLC7A8(dist=15679),RNF212B(dist=38579) chr14 23668548 23668548 G T het . 4 +exonic HOMEZ chr14 23744827 23744829 TCC - het . 14 +intronic BCL2L2-PABPN1,PABPN1 chr14 23793324 23793324 T A het . 31 +intronic MYH6 chr14 23852680 23852680 C A het . 4 +exonic MYH6 chr14 23866440 23866440 G A het . 33 +intronic MYH7 chr14 23882896 23882896 C T het . 10 +intronic MYH7 chr14 23884109 23884109 T C het . 4 +intronic MYH7 chr14 23889535 23889535 C A het . 8 +intronic MYH7 chr14 23897150 23897150 G A het . 5 +exonic MYH7 chr14 23898176 23898176 G A het . 11 +intronic MYH7 chr14 23898885 23898886 AA - het . 6 +intergenic MYH7(dist=20126),NGDN(dist=13877) chr14 23925021 23925021 A - het . 1 +intergenic MYH7(dist=21631),NGDN(dist=12372) chr14 23926526 23926526 A T het . 1 +ncRNA_intronic LOC102724814 chr14 24031956 24031956 A - het . 3 +intergenic DHRS2(dist=14213),DHRS4-AS1(dist=278879) chr14 24129061 24129061 A - het . 2 +intergenic DHRS2(dist=208419),DHRS4-AS1(dist=84673) chr14 24323267 24323267 C T het . 2 +intronic DHRS4L1 chr14 24512998 24513000 AAA - het . 8 +intronic RNF31 chr14 24625031 24625031 C G het . 3 +exonic REC8 chr14 24646406 24646406 - GAA het . 19 +intronic CHMP4A chr14 24680601 24680601 A C het . 4 +intronic CHMP4A chr14 24681761 24681761 T - het . 10 +intronic NEDD8,NEDD8-MDP1 chr14 24689138 24689138 G A het . 2 +intronic TINF2 chr14 24710134 24710134 C A het . 22 +intronic TINF2 chr14 24710820 24710822 AAA - het . 20 +intronic DHRS1 chr14 24763796 24763804 AACAACAAC - het . 2 +exonic NOP9 chr14 24769849 24769849 - GAGGAG het . 7 +intronic ADCY4 chr14 24800879 24800879 G A het . 2 +exonic ADCY4 chr14 24803757 24803759 CAG - het . 9 +intronic RIPK3 chr14 24808168 24808168 G A het . 2 +exonic RIPK3 chr14 24808776 24808776 C A het . 9 +intergenic RIPK3(dist=25776),NFATC4(dist=1099) chr14 24835018 24835018 G - het . 2 +intronic NFATC4 chr14 24842636 24842636 C A het . 6 +UTR3 NYNRIN(NM_025081:c.*810T>C) chr14 24887462 24887462 T C het . 8 +intronic KHNYN chr14 24900209 24900209 C G het . 4 +ncRNA_intronic LOC101927045 chr14 24954002 24954002 T C het . 2 +ncRNA_intronic LOC101927045 chr14 24954394 24954394 T - het . 2 +ncRNA_intronic LOC101927045 chr14 24955265 24955265 A C het . 3 +ncRNA_exonic LOC101927045 chr14 24970942 24970942 A G het . 6 +intronic CMA1 chr14 24975608 24975608 C A het . 10 +intergenic CTSG(dist=17152),GZMH(dist=13068) chr14 25062618 25062618 G A het . 2 +intergenic STXBP6(dist=213143),NOVA1(dist=1182443) chr14 25732646 25732646 T - het . 3 +intergenic STXBP6(dist=295501),NOVA1(dist=1100085) chr14 25815004 25815004 C T het . 2 +intergenic STXBP6(dist=381315),NOVA1(dist=1014271) chr14 25900818 25900818 G - het . 26 +intergenic STXBP6(dist=513651),NOVA1(dist=881935) chr14 26033154 26033154 A G het . 1 +intergenic STXBP6(dist=575460),NOVA1(dist=820126) chr14 26094963 26094963 T C het . 2 +intergenic STXBP6(dist=575485),NOVA1(dist=820099) chr14 26094988 26094990 TTT - het . 2 +intergenic STXBP6(dist=655787),NOVA1(dist=739799) chr14 26175290 26175290 C T het . 2 +intergenic STXBP6(dist=681306),NOVA1(dist=714280) chr14 26200809 26200809 - AA het . 2 +intergenic STXBP6(dist=681308),NOVA1(dist=714278) chr14 26200811 26200811 G A het . 2 +intergenic STXBP6(dist=820121),NOVA1(dist=575465) chr14 26339624 26339624 T G het . 1 +intergenic STXBP6(dist=988364),NOVA1(dist=407222) chr14 26507867 26507867 T A het . 1 +intergenic STXBP6(dist=1041256),NOVA1(dist=354330) chr14 26560759 26560759 A C het . 2 +intergenic STXBP6(dist=1097888),NOVA1(dist=297698) chr14 26617391 26617391 C T het . 3 +intergenic LINC02294(dist=36635),MIR4307HG(dist=14378) chr14 27327961 27327961 - T het . 4 +intergenic MIR4307HG(dist=138589),LOC728755(dist=268494) chr14 27522538 27522538 G A het . 2 +intergenic MIR4307HG(dist=166361),LOC728755(dist=240722) chr14 27550310 27550310 G A het . 1 +ncRNA_intronic LOC728755 chr14 27820356 27820356 - T het . 3 +ncRNA_intronic LOC728755 chr14 27982946 27982946 C G het . 1 +ncRNA_intronic LOC728755 chr14 28066238 28066241 AAAC - het . 2 +intergenic LOC728755(dist=139741),FOXG1-AS1(dist=912280) chr14 28282168 28282168 G A het . 1 +intergenic LOC728755(dist=139762),FOXG1-AS1(dist=912259) chr14 28282189 28282189 - CC het . 1 +intergenic LOC728755(dist=139780),FOXG1-AS1(dist=912241) chr14 28282207 28282207 G A het . 2 +intergenic LOC728755(dist=167237),FOXG1-AS1(dist=884784) chr14 28309664 28309664 G C het . 2 +intergenic LOC728755(dist=241978),FOXG1-AS1(dist=810043) chr14 28384405 28384405 T - het . 3 +intergenic LOC728755(dist=778149),FOXG1-AS1(dist=273872) chr14 28920576 28920576 A T het . 2 +intergenic LOC728755(dist=920091),FOXG1-AS1(dist=131930) chr14 29062518 29062518 G A het . 1 +ncRNA_exonic LINC01551 chr14 29261307 29261307 - C het . 27 +ncRNA_exonic LINC01551 chr14 29261309 29261309 - AC het . 27 +intergenic LINC01551(dist=59510),PRKD1(dist=722176) chr14 29323510 29323510 G A het . 2 +intergenic LINC01551(dist=248474),PRKD1(dist=533212) chr14 29512474 29512474 G T het . 2 +intergenic LINC01551(dist=314360),PRKD1(dist=467326) chr14 29578360 29578360 - GAAA het . 2 +intronic PRKD1 chr14 30099262 30099262 G T het . 3 +intronic PRKD1 chr14 30367817 30367817 A C het . 1 +intergenic PRKD1(dist=241529),G2E3-AS1(dist=268721) chr14 30638477 30638477 A C het . 2 +intergenic PRKD1(dist=299457),G2E3-AS1(dist=210793) chr14 30696405 30696405 A - het . 3 +ncRNA_intronic G2E3-AS1 chr14 30930653 30930653 - A het . 3 +intronic SCFD1 chr14 31191669 31191669 T - het . 13 +intergenic SCFD1(dist=115474),COCH(dist=23234) chr14 31320507 31320507 T C het . 2 +ncRNA_exonic LOC100506071 chr14 31358602 31358602 C T het . 3 +UTR3 STRN3(NM_014574:c.*517delA,NM_001083893:c.*517delA) chr14 31364100 31364100 T - het . 17 +intronic AP4S1,STRN3 chr14 31495052 31495052 A C het . 8 +intronic AP4S1,STRN3 chr14 31495095 31495095 A C het . 7 +intronic AP4S1 chr14 31552576 31552576 C A het . 16 +intronic HECTD1 chr14 31578555 31578555 C A het . 13 +exonic HECTD1 chr14 31598248 31598248 A G het . 26 +intronic HEATR5A chr14 31793054 31793055 AT - het . 3 +intronic HEATR5A chr14 31830706 31830706 T C het . 1 +intronic HEATR5A chr14 31852434 31852434 G A het . 1 +intronic HEATR5A chr14 31856769 31856769 - T het . 2 +intronic HEATR5A chr14 31872051 31872052 CC AA het . 22 +intergenic DTD2(dist=15956),GPR33(dist=9514) chr14 31942636 31942636 G C het . 2 +intergenic GPR33(dist=62913),NUBPL(dist=10527) chr14 32020064 32020064 C A het . 16 +intronic NUBPL chr14 32047450 32047450 C A het . 3 +intronic NUBPL chr14 32183698 32183698 T C het . 2 +intronic ARHGAP5 chr14 32563640 32563640 A G het . 4 +intergenic RNU6-2(dist=68993),AKAP6(dist=57011) chr14 32741468 32741468 G A het . 3 +intergenic RNU6-2(dist=69020),AKAP6(dist=56984) chr14 32741495 32741495 G A het . 8 +intronic AKAP6 chr14 32878943 32878943 C A het . 2 +exonic AKAP6 chr14 33015760 33015760 C A het . 25 +intronic AKAP6 chr14 33213515 33213515 A T het . 2 +intronic AKAP6 chr14 33255504 33255504 C G het . 3 +intronic AKAP6 chr14 33280461 33280461 A T het . 1 +exonic AKAP6 chr14 33291298 33291298 C A het . 18 +intergenic AKAP6(dist=84776),NPAS3(dist=21415) chr14 33387044 33387044 C T het . 2 +intronic NPAS3 chr14 33552370 33552370 T C het . 1 +intronic NPAS3 chr14 33847757 33847757 G A het . 2 +intronic NPAS3 chr14 33947487 33947487 A G het . 2 +intronic NPAS3 chr14 33951260 33951260 T - het . 2 +intronic NPAS3 chr14 33951264 33951264 T G het . 2 +intronic NPAS3 chr14 34047362 34047362 T C het . 19 +intronic NPAS3 chr14 34047414 34047414 T C het . 20 +intronic NPAS3 chr14 34149916 34149916 T C het . 4 +intergenic NPAS3(dist=116453),EGLN3(dist=3586) chr14 34389835 34389835 G T het . 3 +intergenic EGLN3(dist=10363),SPTSSA(dist=471493) chr14 34430647 34430651 AAAAG - het . 1 +intergenic EGLN3(dist=23282),SPTSSA(dist=458578) chr14 34443566 34443566 G T het . 4 +UTR3 SPTSSA(NM_138288:c.*116A>T) chr14 34904291 34904291 T A het . 4 +intergenic EAPP(dist=8697),SNX6(dist=12659) chr14 35017640 35017640 T A het . 1 +intronic SNX6 chr14 35073262 35073262 A - het . 4 +intronic SNX6 chr14 35073281 35073281 C A het . 4 +intergenic SNX6(dist=64518),CFL2(dist=15681) chr14 35163907 35163907 T A het . 6 +UTR3 CFL2(NM_138638:c.*1682A>T,NM_001243645:c.*1682A>T,NM_021914:c.*1682A>T) chr14 35180389 35180389 T A het . 27 +intronic CFL2 chr14 35182407 35182409 ATA - het . 28 +UTR3 BAZ1A(NM_182648:c.*87_*88insACAA,NM_013448:c.*87_*88insACAA) chr14 35222626 35222626 - TTGT het . 7 +intronic BAZ1A chr14 35242633 35242633 G T het . 8 +intronic BAZ1A chr14 35242710 35242710 A - het . 6 +intronic BAZ1A chr14 35286815 35286815 C T het . 3 +intronic BAZ1A chr14 35298622 35298622 A T het . 2 +intronic SRP54 chr14 35477499 35477499 G A het . 3 +intronic SRP54 chr14 35492300 35492300 G - het . 11 +intronic SRP54 chr14 35492302 35492318 TTGTTATTAGTTAACAG - het . 13 +intergenic SRP54(dist=5795),FAM177A1(dist=9545) chr14 35504568 35504568 A G het . 2 +intergenic SRP54(dist=5802),FAM177A1(dist=9538) chr14 35504575 35504575 A C het . 2 +intronic FAM177A1 chr14 35550121 35550121 T C het . 4 +intronic FAM177A1 chr14 35550142 35550142 C A het . 5 +ncRNA_exonic LOC101927178 chr14 35550467 35550467 - T het . 15 +ncRNA_intronic LOC101927178 chr14 35554410 35554411 AC - het . 3 +ncRNA_intronic LOC101927178 chr14 35581151 35581151 T G het . 2 +intronic KIAA0391 chr14 35596092 35596092 C A het . 3 +intronic PSMA6 chr14 35779398 35779399 TT - het . 13 +intergenic PSMA6(dist=71331),NFKBIA(dist=12700) chr14 35858016 35858016 C A het . 2 +UTR3 NFKBIA(NM_020529:c.*209G>T) chr14 35871010 35871010 C A het . 5 +intergenic NFKBIA(dist=25521),INSM2(dist=103767) chr14 35899481 35899481 A - het . 21 +intergenic NFKBIA(dist=25993),INSM2(dist=103295) chr14 35899953 35899953 T C het . 4 +intergenic NFKBIA(dist=26575),INSM2(dist=102713) chr14 35900535 35900535 T C het . 3 +intergenic NFKBIA(dist=26583),INSM2(dist=102705) chr14 35900543 35900543 C A het . 3 +intergenic NFKBIA(dist=47875),INSM2(dist=81413) chr14 35921835 35921835 G A het . 1 +intergenic NFKBIA(dist=86667),INSM2(dist=42613) chr14 35960627 35960635 TTTGTTTGT - het . 2 +ncRNA_intronic RALGAPA1P1 chr14 36078442 36078442 A G het . 1 +ncRNA_intronic RALGAPA1P1 chr14 36123892 36123892 G A het . 5 +ncRNA_intronic RALGAPA1P1 chr14 36218054 36218054 - G het . 5 +intronic BRMS1L chr14 36300895 36300895 T G het . 2 +intronic BRMS1L chr14 36301996 36301996 C T het . 3 +intergenic BRMS1L(dist=103591),LINC00609(dist=94873) chr14 36444760 36444760 G A het . 2 +ncRNA_intronic LINC00609 chr14 36567811 36567811 T G het . 1 +UTR3 MBIP(NM_001144891:c.*13A>G,NM_001308110:c.*101A>G,NM_016586:c.*13A>G) chr14 36768276 36768276 T C het . 10 +exonic MBIP chr14 36789775 36789775 A T het . 4 +UTR5 MBIP(NM_001144891:c.-1C>T,NM_001308110:c.-1C>T,NM_016586:c.-1C>T) chr14 36789795 36789795 G A het . 3 +intergenic MBIP(dist=36596),SFTA3(dist=116016) chr14 36826478 36826478 C G het . 2 +intergenic NKX2-1-AS1(dist=42607),NKX2-8(dist=14388) chr14 37034828 37034828 G T het . 1 +intergenic NKX2-8(dist=3746),PAX9(dist=71208) chr14 37055565 37055565 A G het . 1 +intergenic NKX2-8(dist=56365),PAX9(dist=18588) chr14 37108184 37108185 GA TC het . 2 +intronic PAX9 chr14 37132769 37132769 G A het . 9 +intronic SLC25A21 chr14 37356765 37356765 T C het . 3 +intronic SLC25A21 chr14 37356767 37356767 - A het . 3 +intronic SLC25A21 chr14 37372940 37372940 C T het . 3 +intronic SLC25A21 chr14 37613990 37613991 TT - het . 3 +intronic SLC25A21 chr14 37628760 37628760 T C het . 2 +intronic MIPOL1 chr14 37794809 37794809 C T het . 2 +intronic MIPOL1 chr14 37818124 37818124 C T het . 2 +intronic MIPOL1 chr14 37838604 37838604 - A het . 3 +intronic MIPOL1 chr14 37867285 37867285 G T het . 1 +intronic TTC6 chr14 38116960 38116960 G A het . 2 +intronic TTC6 chr14 38159161 38159161 A G het . 3 +intronic TTC6 chr14 38206729 38206729 C G het . 5 +intronic TTC6 chr14 38261757 38261757 G A het . 4 +intronic TTC6 chr14 38290875 38290875 C T het . 1 +intergenic TTC6(dist=17759),LINC00517(dist=35676) chr14 38329589 38329589 A C het . 1 +exonic CLEC14A chr14 38723760 38723760 C A het . 2 +intergenic CLEC14A(dist=15290),LINC00639(dist=477678) chr14 38740865 38740865 T G het . 2 +intronic SEC23A chr14 39502626 39502626 - AATAGAAC het . 9 +intronic SEC23A chr14 39512114 39512114 A - het . 25 +intronic SEC23A chr14 39512122 39512122 T A het . 22 +intronic SEC23A chr14 39516715 39516715 A - het . 5 +intronic SEC23A chr14 39517691 39517691 T A het . 4 +intronic GEMIN2 chr14 39593976 39593976 A - het . 13 +intronic GEMIN2 chr14 39597471 39597471 T - het . 19 +intronic TRAPPC6B chr14 39620788 39620788 A T het . 5 +intronic TRAPPC6B chr14 39628910 39628910 A G het . 5 +intronic TRAPPC6B chr14 39628947 39628947 - T het . 4 +intronic TRAPPC6B chr14 39633185 39633185 C T het . 1 +intronic MIA2 chr14 39763111 39763111 G A het . 4 +intronic MIA2 chr14 39773435 39773435 - T het . 10 +intronic MIA2 chr14 39780860 39780860 T A het . 2 +intronic MIA2 chr14 39784965 39784965 G T het . 15 +intronic MIA2 chr14 39796049 39796049 T - het . 8 +intronic MIA2 chr14 39855255 39855255 T C het . 3 +intronic MIA2 chr14 39856043 39856043 G C het . 11 +UTR3 FBXO33(NM_203301:c.*74G>T) chr14 39868646 39868646 C A het . 3 +intronic FBXO33 chr14 39871160 39871160 T - het . 3 +intronic FBXO33 chr14 39876435 39876435 C T het . 1 +intergenic FBXO33(dist=96284),LINC02315(dist=1425928) chr14 39997988 39997988 A G het . 2 +intergenic FBXO33(dist=99513),LINC02315(dist=1422699) chr14 40001217 40001217 C T het . 2 +intergenic FBXO33(dist=142412),LINC02315(dist=1379800) chr14 40044116 40044116 G A het . 3 +intergenic FBXO33(dist=247391),LINC02315(dist=1274821) chr14 40149095 40149095 T A het . 1 +intergenic FBXO33(dist=384819),LINC02315(dist=1137393) chr14 40286523 40286523 C G het . 2 +intergenic FBXO33(dist=434111),LINC02315(dist=1088101) chr14 40335815 40335815 G A het . 3 +intergenic FBXO33(dist=627597),LINC02315(dist=894615) chr14 40529301 40529301 T C het . 1 +intergenic FBXO33(dist=680402),LINC02315(dist=841810) chr14 40582106 40582106 C A het . 1 +intergenic FBXO33(dist=950271),LINC02315(dist=571941) chr14 40851975 40851975 A - het . 2 +intergenic FBXO33(dist=1149447),LINC02315(dist=372764) chr14 41051151 41051152 TA - het . 2 +intergenic FBXO33(dist=1205321),LINC02315(dist=316891) chr14 41107025 41107025 G A het . 3 +ncRNA_intronic LINC02315 chr14 41518975 41518975 G A het . 1 +ncRNA_intronic LINC02315 chr14 41574154 41574154 C T het . 3 +ncRNA_intronic LINC02315 chr14 41580013 41580013 A C het . 1 +ncRNA_intronic LINC02315 chr14 41597760 41597760 T - het . 4 +intergenic LINC02315(dist=139539),LRFN5(dist=326269) chr14 41749790 41749790 G A het . 3 +intergenic LINC02315(dist=261682),LRFN5(dist=204126) chr14 41871933 41871933 T A het . 2 +intergenic LINC02315(dist=281985),LRFN5(dist=183823) chr14 41892236 41892236 G A het . 1 +intergenic LRFN5(dist=257112),NONE(dist=NONE) chr14 42630864 42630864 A T het . 2 +intergenic LRFN5(dist=566024),FSCB(dist=2033578) chr14 42939776 42939776 C A het . 2 +intergenic LRFN5(dist=753446),FSCB(dist=1846156) chr14 43127198 43127198 A C het . 6 +intergenic LRFN5(dist=1182864),FSCB(dist=1416738) chr14 43556616 43556616 C A het . 2 +intergenic LRFN5(dist=1223806),FSCB(dist=1375796) chr14 43597558 43597558 A G het . 2 +intergenic LRFN5(dist=1223812),FSCB(dist=1375790) chr14 43597564 43597564 G A het . 1 +intergenic LRFN5(dist=1382865),FSCB(dist=1216737) chr14 43756617 43756617 T A het . 1 +intergenic LRFN5(dist=1693354),FSCB(dist=906248) chr14 44067106 44067106 G C het . 2 +intergenic NONE(dist=NONE),FSCB(dist=491866) chr14 44481488 44481488 A G het . 2 +intergenic NONE(dist=NONE),FSCB(dist=64010) chr14 44909343 44909344 AA - het . 2 +ncRNA_intronic LOC105370473 chr14 45003599 45003599 C A het . 3 +intergenic LOC105370473(dist=10102),LINC02302(dist=214545) chr14 45017815 45017815 G A het . 2 +intergenic LOC105370473(dist=189629),LINC02302(dist=35018) chr14 45197342 45197342 A T het . 1 +intergenic LOC105370473(dist=199594),LINC02302(dist=25053) chr14 45207307 45207307 A - het . 2 +intronic TOGARAM1 chr14 45513743 45513743 - A het . 9 +exonic FANCM chr14 45665542 45665542 C A het . 27 +intergenic MIS18BP1(dist=165386),LINC02303(dist=287470) chr14 45887991 45887991 G A het . 1 +intergenic LINC02303(dist=61962),LINC00871(dist=286594) chr14 46246767 46246768 TT - het . 2 +intergenic LINC02303(dist=301981),LINC00871(dist=46576) chr14 46486786 46486786 G A het . 4 +ncRNA_intronic LINC00871 chr14 46564613 46564613 C G het . 2 +ncRNA_intronic LINC00871 chr14 46564616 46564616 T G het . 2 +ncRNA_intronic LINC00871 chr14 46659024 46659024 A G het . 3 +ncRNA_intronic LINC00871 chr14 46970348 46970348 C A het . 3 +intergenic LINC00871(dist=1935),RPL10L(dist=147178) chr14 46973039 46973042 AAAG - het . 1 +intergenic LINC00871(dist=19025),RPL10L(dist=130091) chr14 46990129 46990129 C A het . 2 +intergenic LINC00871(dist=21395),RPL10L(dist=127721) chr14 46992499 46992499 A C het . 1 +intergenic LINC00871(dist=67915),RPL10L(dist=81201) chr14 47039019 47039019 A G het . 2 +intergenic LINC00871(dist=100197),RPL10L(dist=48903) chr14 47071301 47071317 AGACATTCAGAGACAAG - het . 3 +intronic MDGA2 chr14 47383315 47383315 A G het . 1 +intronic MDGA2 chr14 47405934 47405934 - A het . 2 +intronic MDGA2 chr14 47669868 47669868 G C het . 19 +intronic MDGA2 chr14 47680362 47680362 C T het . 2 +intronic MDGA2 chr14 47687549 47687549 C T het . 3 +intronic MDGA2 chr14 47701399 47701399 T G het . 1 +intronic MDGA2 chr14 47718226 47718226 - T het . 4 +intronic MDGA2 chr14 47718229 47718229 G T het . 4 +intronic MDGA2 chr14 48114481 48114481 T C het . 1 +intergenic MDGA2(dist=17071),MIR548Y(dist=68968) chr14 48161228 48161230 TTC - het . 2 +intergenic LINC00648(dist=314226),RPS29(dist=1459259) chr14 48578443 48578443 - C het . 3 +intergenic LINC00648(dist=325735),RPS29(dist=1447750) chr14 48589952 48589952 C A het . 2 +intergenic LINC00648(dist=325743),RPS29(dist=1447742) chr14 48589960 48589960 G C het . 2 +intergenic LINC00648(dist=499082),RPS29(dist=1274403) chr14 48763299 48763299 T C het . 1 +intergenic LINC00648(dist=613576),RPS29(dist=1159909) chr14 48877793 48877793 G A het . 1 +intergenic LINC00648(dist=697558),RPS29(dist=1075927) chr14 48961775 48961775 C T het . 3 +intergenic LINC00648(dist=756681),RPS29(dist=1016804) chr14 49020898 49020898 G C het . 4 +intergenic LINC00648(dist=789740),RPS29(dist=983745) chr14 49053957 49053957 C T het . 1 +intergenic LINC00648(dist=1295254),RPS29(dist=478231) chr14 49559471 49559471 A C het . 2 +intergenic LINC00648(dist=1771671),RPS29(dist=1814) chr14 50035888 50035888 - AA het . 1 +UTR3 RPS29(NM_001030001:c.*4730_*4731insTCTT) chr14 50039799 50039799 - AAGA het . 2 +intronic RPS29 chr14 50051496 50051496 T A het . 1 +UTR5 LRR1(NM_152329:c.-22G>C,NM_203467:c.-22G>C) chr14 50065717 50065717 G C het . 3 +exonic LRR1 chr14 50074338 50074338 G A het . 22 +intronic LRR1 chr14 50080871 50080871 G A het . 8 +exonic MGAT2 chr14 50088927 50088927 C A het . 20 +downstream MGAT2(dist=626) chr14 50090825 50090825 - C het . 2 +exonic POLE2 chr14 50114043 50114043 A C het . 28 +intronic POLE2 chr14 50114184 50114184 T - het . 19 +intronic POLE2 chr14 50130210 50130210 G C het . 4 +intronic KLHDC1 chr14 50175297 50175297 C A het . 3 +intronic KLHDC1 chr14 50199375 50199375 A C het . 2 +intronic KLHDC1 chr14 50201615 50201615 G C het . 2 +intronic KLHDC2 chr14 50236471 50236472 AT - het . 2 +intronic KLHDC2 chr14 50247290 50247290 G T het . 3 +intronic NEMF chr14 50266092 50266092 A - het . 5 +intronic NEMF chr14 50266095 50266095 G A het . 5 +intronic NEMF chr14 50270322 50270322 T C het . 2 +intronic NEMF chr14 50272946 50272946 - TG het . 4 +intronic NEMF chr14 50287328 50287328 G A het . 3 +intronic NEMF chr14 50289037 50289037 A T het . 2 +intronic NEMF chr14 50298154 50298154 T - het . 15 +intronic NEMF chr14 50299052 50299053 TT - het . 12 +intronic NEMF chr14 50306285 50306286 GA TT het . 2 +intronic NEMF chr14 50319327 50319327 T C het . 4 +intergenic ARF6(dist=3663),MIR6076(dist=65682) chr14 50367435 50367435 C T het . 4 +intergenic ARF6(dist=3714),MIR6076(dist=65630) chr14 50367486 50367487 TT - het . 1 +intergenic ARF6(dist=6969),MIR6076(dist=62376) chr14 50370741 50370741 A T het . 3 +intergenic ARF6(dist=25685),MIR6076(dist=43660) chr14 50389457 50389457 T A het . 2 +ncRNA_exonic LINC01588 chr14 50458991 50458991 C A het . 11 +ncRNA_intronic LINC01599 chr14 50516714 50516714 T C het . 2 +ncRNA_intronic LINC01599 chr14 50519655 50519655 T C het . 2 +ncRNA_intronic LINC01599 chr14 50519657 50519657 C T het . 2 +intronic SOS2 chr14 50623657 50623657 G A het . 8 +intronic SOS2 chr14 50623679 50623679 G A het . 15 +intronic SOS2 chr14 50623683 50623683 A G het . 16 +intronic SOS2 chr14 50628481 50628481 C A het . 3 +intronic SOS2 chr14 50668959 50668959 A G het . 3 +intronic SOS2 chr14 50693950 50693953 TTTC - het . 1 +intronic L2HGDH chr14 50732042 50732042 G A het . 9 +intronic L2HGDH chr14 50734278 50734278 T G het . 3 +intronic L2HGDH chr14 50734282 50734282 T G het . 3 +intronic L2HGDH chr14 50735713 50735713 C A het . 11 +intronic L2HGDH chr14 50745123 50745123 - TTACTT het . 12 +intronic L2HGDH chr14 50760969 50760969 A - het . 22 +UTR5 ATP5S(NM_015684:c.-393C>T,NM_001003805:c.-393C>T,NM_001003803:c.-393C>T) chr14 50779346 50779346 C T het . 2 +intronic CDKL1 chr14 50802224 50802224 G C het . 22 +intronic CDKL1 chr14 50844856 50844856 A G het . 5 +intronic CDKL1 chr14 50863716 50863716 C G het . 3 +upstream CDKL1(dist=37) chr14 50864159 50864159 G C het . 3 +intronic MAP4K5 chr14 50901407 50901407 G T het . 6 +intronic MAP4K5 chr14 50940898 50940898 T A het . 1 +intronic MAP4K5 chr14 50941740 50941740 C A het . 19 +intronic MAP4K5 chr14 50941749 50941749 A T het . 20 +intronic MAP4K5 chr14 50943035 50943035 A - het . 17 +intronic ATL1 chr14 51038697 51038697 T C het . 12 +intronic ATL1 chr14 51061738 51061738 - A het . 3 +intronic ATL1 chr14 51089727 51089727 G T het . 4 +intronic SAV1 chr14 51108427 51108427 T C het . 1 +intergenic SAV1(dist=17401),NIN(dist=34009) chr14 51152472 51152472 T A het . 2 +intronic NIN chr14 51208143 51208143 T G het . 2 +intronic NIN chr14 51232865 51232865 A C het . 1 +ncRNA_intronic LOC105370489 chr14 51289873 51289873 G - het . 7 +ncRNA_intronic LOC105370489 chr14 51289874 51289874 G T het . 7 +intergenic NIN(dist=25263),ABHD12B(dist=15776) chr14 51323102 51323102 G A het . 4 +intronic ABHD12B chr14 51344584 51344584 - AAA het . 9 +intronic ABHD12B chr14 51348379 51348379 T C het . 11 +intronic ABHD12B chr14 51352159 51352159 C T het . 3 +intronic ABHD12B chr14 51355517 51355517 C A het . 19 +UTR3 PYGL(NM_001163940:c.*11delT,NM_002863:c.*11delT) chr14 51372099 51372099 A - het . 27 +UTR3 PYGL(NM_001163940:c.*7G>C,NM_002863:c.*7G>C) chr14 51372103 51372103 C G het . 28 +intronic PYGL chr14 51374738 51374738 - A het . 3 +intronic PYGL chr14 51375683 51375683 A C het . 13 +intronic PYGL chr14 51375692 51375692 T G het . 10 +exonic PYGL chr14 51382104 51382104 A T het . 36 +intronic TRIM9 chr14 51449874 51449874 C T het . 2 +intergenic TRIM9(dist=92687),TMX1(dist=51777) chr14 51655109 51655109 A G het . 1 +ncRNA_intronic LINC00640 chr14 51809877 51809877 C T het . 4 +intergenic LINC00640(dist=3713),LINC02310(dist=22859) chr14 51835988 51835988 - TTTG het . 3 +intergenic LINC02310(dist=39481),FRMD6-AS2(dist=17896) chr14 51903334 51903334 G T het . 12 +intergenic LINC02310(dist=39769),FRMD6-AS2(dist=17606) chr14 51903622 51903624 GAA - het . 11 +ncRNA_intronic FRMD6-AS2 chr14 52056077 52056077 G - het . 2 +intergenic FRMD6(dist=106159),GNG2(dist=23419) chr14 52303603 52303603 A T het . 2 +intronic GNG2 chr14 52418618 52418618 C T het . 18 +intronic GNG2 chr14 52426782 52426782 A T het . 3 +intronic GNG2 chr14 52426788 52426788 T C het . 3 +UTR3 GNG2(NM_053064:c.*650G>T,NM_001243774:c.*650G>T,NM_001243773:c.*650G>T) chr14 52434055 52434055 G T het . 1 +intronic RTRAF chr14 52471017 52471017 - AAAT het . 20 +intronic NID2 chr14 52495375 52495375 C T het . 4 +intronic NID2 chr14 52505771 52505772 TT AG het . 3 +intronic NID2 chr14 52513202 52513202 G A het . 2 +intergenic NID2(dist=45947),PTGDR(dist=152538) chr14 52581893 52581893 G A het . 2 +intergenic NID2(dist=97946),PTGDR(dist=100539) chr14 52633892 52633892 T C het . 2 +intergenic NID2(dist=97959),PTGDR(dist=100526) chr14 52633905 52633905 G T het . 1 +intergenic NID2(dist=97961),PTGDR(dist=100524) chr14 52633907 52633907 G T het . 1 +intergenic NID2(dist=110983),PTGDR(dist=87502) chr14 52646929 52646929 T C het . 1 +intergenic NID2(dist=110999),PTGDR(dist=87486) chr14 52646945 52646945 C T het . 2 +intergenic NID2(dist=126472),PTGDR(dist=72013) chr14 52662418 52662418 G A het . 1 +intergenic PTGER2(dist=6165),TXNDC16(dist=95821) chr14 52801487 52801487 C A het . 2 +intergenic PTGER2(dist=23341),TXNDC16(dist=78645) chr14 52818663 52818663 G A het . 2 +intronic PSMC6 chr14 53178685 53178685 C A het . 2 +UTR5 STYX(NM_145251:c.-38A>C) chr14 53197155 53197155 A C het . 3 +intronic GNPNAT1 chr14 53250296 53250296 A T het . 5 +intronic FERMT2 chr14 53341920 53341920 A - het . 8 +intronic FERMT2 chr14 53386237 53386237 C G het . 8 +intronic FERMT2 chr14 53400456 53400456 G A het . 3 +UTR3 DDHD1(NM_030637:c.*7_*6delCT,NM_001160148:c.*7_*6delCT,NM_001160147:c.*7_*6delCT) chr14 53513479 53513480 AG - het . 5 +intronic DDHD1 chr14 53540249 53540249 A G het . 3 +exonic DDHD1 chr14 53619463 53619463 G A het . 12 +exonic DDHD1 chr14 53619480 53619480 - GCCGCC het . 13 +intergenic LOC101927620(dist=87550),MIR5580(dist=703349) chr14 53711796 53711796 C T het . 2 +intergenic LOC101927620(dist=234668),MIR5580(dist=556231) chr14 53858914 53858914 C T het . 2 +intergenic LOC101927620(dist=745995),MIR5580(dist=44904) chr14 54370241 54370241 A G het . 3 +intergenic BMP4(dist=13525),CDKN3(dist=426452) chr14 54437134 54437134 C T het . 2 +intergenic BMP4(dist=39725),CDKN3(dist=400252) chr14 54463334 54463334 A G het . 2 +intergenic BMP4(dist=218902),CDKN3(dist=221075) chr14 54642511 54642511 - A het . 2 +intergenic BMP4(dist=257526),CDKN3(dist=182451) chr14 54681135 54681135 A - het . 2 +intergenic BMP4(dist=273597),CDKN3(dist=166380) chr14 54697206 54697206 C T het . 2 +intergenic BMP4(dist=390924),CDKN3(dist=49053) chr14 54814533 54814533 A G het . 2 +intergenic BMP4(dist=390981),CDKN3(dist=48996) chr14 54814590 54814590 C A het . 2 +intergenic BMP4(dist=428894),CDKN3(dist=11083) chr14 54852503 54852503 G A het . 2 +intronic WDHD1 chr14 55473950 55473950 A - het . 18 +intronic DLGAP5 chr14 55617579 55617579 A - het . 14 +intronic DLGAP5 chr14 55618242 55618242 A - het . 6 +splicing DLGAP5(NM_001146015:exon7:c.774+1G>T,NM_014750:exon7:c.774+1G>T) chr14 55646346 55646346 C A het . 26 +intronic FBXO34 chr14 55816925 55816925 T G het . 3 +upstream ATG14(dist=48) chr14 55878624 55878624 G T het . 4 +upstream ATG14(dist=58) chr14 55878634 55878634 A C het . 4 +upstream ATG14(dist=60) chr14 55878636 55878636 G C het . 3 +downstream TBPL2(dist=12) chr14 55880918 55880918 A G het . 6 +intronic TBPL2 chr14 55902698 55902698 - A het . 6 +intergenic TBPL2(dist=7010),KTN1-AS1(dist=128602) chr14 55914273 55914273 C A het . 2 +intergenic TBPL2(dist=8589),KTN1-AS1(dist=127023) chr14 55915852 55915852 G T het . 1 +intergenic TBPL2(dist=8605),KTN1-AS1(dist=127007) chr14 55915868 55915868 A C het . 2 +intergenic TBPL2(dist=90796),KTN1-AS1(dist=44816) chr14 55998059 55998059 A G het . 2 +intronic KTN1 chr14 56108033 56108033 G A het . 6 +intronic KTN1 chr14 56119413 56119413 G A het . 4 +intergenic RPL13AP3(dist=8343),LINC00520(dist=5075) chr14 56242778 56242778 G A het . 2 +intergenic RPL13AP3(dist=8378),LINC00520(dist=5040) chr14 56242813 56242813 A T het . 3 +intergenic RPL13AP3(dist=8381),LINC00520(dist=5037) chr14 56242816 56242816 C T het . 3 +intergenic LINC00520(dist=8094),PELI2(dist=313607) chr14 56271486 56271486 G A het . 2 +intergenic PELI2(dist=81391),LOC101927690(dist=131627) chr14 56849422 56849422 T C het . 2 +intergenic TMEM260(dist=17819),OTX2(dist=133374) chr14 57134051 57134051 A G het . 1 +intergenic TMEM260(dist=39687),OTX2(dist=111506) chr14 57155919 57155919 G A het . 2 +intergenic TMEM260(dist=140651),OTX2(dist=10540) chr14 57256883 57256885 CAT - het . 2 +exonic OTX2 chr14 57268590 57268590 C T het . 44 +intergenic OTX2-AS1(dist=43954),EXOC5(dist=227214) chr14 57441980 57441980 G A het . 2 +intergenic OTX2-AS1(dist=53213),EXOC5(dist=217955) chr14 57451239 57451239 C A het . 2 +intergenic OTX2-AS1(dist=181335),EXOC5(dist=89833) chr14 57579361 57579361 C G het . 3 +intronic EXOC5 chr14 57704129 57704129 C A het . 21 +exonic AP5M1 chr14 57741274 57741274 A G het . 26 +intronic NAA30 chr14 57865361 57865361 - T het . 3 +intronic CCDC198 chr14 57942426 57942426 A - het . 7 +intronic CCDC198 chr14 57956610 57956610 C T het . 1 +exonic SLC35F4 chr14 58056159 58056159 C G het . 20 +intronic SLC35F4 chr14 58060586 58060586 C T het . 4 +intronic SLC35F4 chr14 58060598 58060598 C G het . 4 +intronic SLC35F4 chr14 58270201 58270201 G C het . 2 +exonic ARMH4 chr14 58606072 58606072 C A het . 12 +intronic ACTR10 chr14 58669661 58669661 T - het . 16 +intronic ACTR10 chr14 58678269 58678269 A G het . 2 +intronic PSMA3 chr14 58727897 58727897 - T het . 8 +intronic ARID4A chr14 58770389 58770389 C G het . 4 +intronic ARID4A chr14 58770392 58770392 C T het . 4 +intronic ARID4A chr14 58797041 58797041 C A het . 2 +intronic KIAA0586 chr14 58915354 58915354 - T het . 5 +intronic KIAA0586 chr14 58937576 58937576 T - het . 11 +intronic KIAA0586 chr14 58943362 58943363 TG CA het . 3 +intronic KIAA0586 chr14 59003610 59003610 C A het . 8 +intergenic DACT1(dist=81404),LINC01500(dist=98564) chr14 59196442 59196442 A - het . 2 +intergenic DACT1(dist=142915),LINC01500(dist=37053) chr14 59257953 59257953 G T het . 1 +intergenic LINC01500(dist=146637),DAAM1(dist=24698) chr14 59630683 59630683 G T het . 3 +intronic DAAM1 chr14 59787053 59787053 G A het . 10 +intronic DAAM1 chr14 59787325 59787325 G C het . 10 +intronic DAAM1 chr14 59793500 59793500 C A het . 13 +exonic DAAM1 chr14 59798022 59798022 A C het . 5 +intronic DAAM1 chr14 59820781 59820781 T - het . 4 +exonic GPR135 chr14 59931697 59931697 G A het . 4 +UTR3 L3HYPDH(NM_001331164:c.*1295G>T) chr14 59941217 59941217 C A het . 9 +intronic L3HYPDH chr14 59946094 59946094 G C het . 12 +intronic L3HYPDH chr14 59946099 59946099 T C het . 12 +UTR5 L3HYPDH(NM_001331158:c.-4353A>C) chr14 59950417 59950417 T G het . 4 +intronic JKAMP chr14 59953379 59953379 A T het . 11 +intronic CCDC175 chr14 59998385 59998385 G A het . 3 +intronic CCDC175 chr14 60004621 60004621 G A het . 2 +intronic CCDC175 chr14 60010378 60010378 G A het . 6 +intronic RTN1 chr14 60120106 60120106 - A het . 2 +intronic RTN1 chr14 60136415 60136416 CT AG het . 2 +intronic LRRC9 chr14 60442971 60442971 G C het . 1 +intronic LRRC9 chr14 60468661 60468661 C T het . 7 +intronic LRRC9 chr14 60484865 60484865 G T het . 6 +downstream LRRC9(dist=810) chr14 60531087 60531087 A G het . 3 +intronic C14orf39 chr14 60921673 60921673 T C het . 5 +upstream SIX4(dist=166) chr14 61191018 61191018 C A het . 16 +intronic MNAT1 chr14 61225325 61225325 C A het . 4 +intronic MNAT1 chr14 61234803 61234803 C G het . 2 +intronic MNAT1 chr14 61241111 61241111 A G het . 1 +intronic MNAT1 chr14 61368530 61368530 C T het . 8 +UTR3 TRMT5(NM_020810:c.*3590delA,NM_001350254:c.*3590delA,NM_001350253:c.*3590delA) chr14 61438237 61438237 T - het . 2 +UTR3 TRMT5(NM_020810:c.*3580C>T,NM_001350254:c.*3580C>T,NM_001350253:c.*3580C>T) chr14 61438247 61438247 G A het . 2 +UTR3 TRMT5(NM_020810:c.*2709A>G,NM_001350254:c.*2709A>G,NM_001350253:c.*2709A>G) chr14 61439118 61439118 T C het . 19 +UTR3 TRMT5(NM_020810:c.*2703T>C,NM_001350254:c.*2703T>C,NM_001350253:c.*2703T>C) chr14 61439124 61439124 A G het . 19 +UTR3 TRMT5(NM_020810:c.*2692T>G,NM_001350254:c.*2692T>G,NM_001350253:c.*2692T>G) chr14 61439135 61439135 A C het . 18 +UTR3 TRMT5(NM_020810:c.*2690G>A,NM_001350254:c.*2690G>A,NM_001350253:c.*2690G>A) chr14 61439137 61439137 C T het . 18 +UTR3 TRMT5(NM_020810:c.*2678A>G,NM_001350254:c.*2678A>G,NM_001350253:c.*2678A>G) chr14 61439149 61439149 T C het . 15 +exonic SLC38A6 chr14 61497198 61497198 C T het . 15 +intronic SLC38A6 chr14 61545449 61545449 - T het . 6 +intergenic SLC38A6(dist=55673),TMEM30B(dist=137965) chr14 61606124 61606124 G A het . 2 +intergenic SLC38A6(dist=147959),TMEM30B(dist=45679) chr14 61698410 61698410 C A het . 1 +intergenic SLC38A6(dist=156684),TMEM30B(dist=36954) chr14 61707135 61707135 C T het . 1 +intronic PRKCH chr14 61882731 61882731 G A het . 2 +intronic PRKCH chr14 61952124 61952124 G C het . 2 +intronic PRKCH chr14 61952133 61952133 A G het . 2 +intronic PRKCH chr14 61983628 61983628 A G het . 2 +intronic PRKCH chr14 61990117 61990117 A T het . 2 +ncRNA_intronic FLJ22447 chr14 62044966 62044968 CAT - het . 4 +ncRNA_exonic FLJ22447 chr14 62120655 62120655 A - het . 7 +ncRNA_intronic LOC105370526 chr14 62212359 62212359 - A het . 18 +ncRNA_intronic LOC105370526 chr14 62213109 62213109 T A het . 1 +ncRNA_intronic LOC105370526 chr14 62213115 62213115 T C het . 1 +intronic SYT16 chr14 62530753 62530753 C T het . 2 +intergenic LINC00644(dist=29101),KCNH5(dist=537499) chr14 62635792 62635792 G A het . 1 +intergenic LINC00644(dist=96410),KCNH5(dist=470190) chr14 62703101 62703101 - C het . 3 +intergenic LINC00644(dist=140107),KCNH5(dist=426493) chr14 62746798 62746798 A G het . 3 +intergenic LINC00644(dist=140116),KCNH5(dist=426484) chr14 62746807 62746807 A G het . 3 +intergenic LINC00644(dist=160575),KCNH5(dist=406025) chr14 62767266 62767266 A G het . 1 +intergenic LINC00644(dist=284012),KCNH5(dist=282588) chr14 62890703 62890703 A G het . 1 +intergenic LINC00644(dist=409512),KCNH5(dist=157088) chr14 63016203 63016203 A G het . 1 +intergenic LINC00644(dist=525501),KCNH5(dist=41099) chr14 63132192 63132192 G C het . 2 +intronic KCNH5 chr14 63266685 63266685 A G het . 2 +intergenic SGPP1(dist=89387),SYNE2(dist=35480) chr14 64284200 64284203 AAAC - het . 4 +intergenic SGPP1(dist=114019),SYNE2(dist=10851) chr14 64308832 64308832 G A het . 2 +intronic SYNE2 chr14 64375985 64375985 G T het . 8 +intronic SYNE2 chr14 64443259 64443260 TT - het . 10 +exonic SYNE2 chr14 64516374 64516374 C A het . 33 +intronic SYNE2 chr14 64579893 64579893 A C het . 7 +exonic SYNE2 chr14 64593488 64593488 C A het . 31 +intronic SYNE2 chr14 64656683 64656683 T - het . 3 +intronic SYNE2 chr14 64685861 64685861 T G het . 17 +exonic SYNE2 chr14 64687237 64687237 G A het . 46 +intronic SYNE2 chr14 64689529 64689529 G C het . 2 +intergenic TEX21P(dist=29434),MTHFD1(dist=11308) chr14 64843763 64843763 A G het . 2 +intergenic TEX21P(dist=29436),MTHFD1(dist=11306) chr14 64843765 64843765 C G het . 2 +intronic MTHFD1 chr14 64867500 64867500 T C het . 33 +intronic MTHFD1 chr14 64875004 64875004 T C het . 1 +intronic MTHFD1 chr14 64879353 64879355 TTT - het . 5 +exonic MTHFD1 chr14 64921527 64921527 C A het . 41 +UTR3 HSPA2(NM_021979:c.*47_*48insT) chr14 65009534 65009534 - T het . 4 +intergenic HSPA2(dist=3283),PPP1R36(dist=3383) chr14 65013237 65013237 G T het . 1 +intronic PPP1R36 chr14 65031572 65031572 A G het . 7 +intergenic PPP1R36(dist=69898),PLEKHG3(dist=45131) chr14 65125995 65125995 T G het . 2 +exonic PLEKHG3 chr14 65209909 65209909 G A het . 13 +intronic SPTB chr14 65267609 65267609 - T het . 24 +intronic SPTB chr14 65268718 65268718 A G het . 7 +intronic SPTB chr14 65288390 65288390 G T het . 2 +upstream SPTB(dist=270) chr14 65346895 65346895 G A het . 2 +UTR3 MAX(NM_197957:c.*47_*44delAAAA,NM_001271069:c.*47_*44delAAAA) chr14 65472875 65472878 TTTT - het . 15 +intronic CHURC1-FNTB,FNTB,MAX chr14 65502239 65502239 G A het . 2 +intronic CHURC1-FNTB,FNTB,MAX chr14 65502420 65502420 A - het . 3 +intergenic MAX(dist=67795),LINC02324(dist=42554) chr14 65637057 65637057 C A het . 1 +intergenic LINC02324(dist=44269),MIR4708(dist=68501) chr14 65733334 65733335 TT - het . 7 +intergenic LINC02324(dist=44290),MIR4708(dist=68481) chr14 65733355 65733355 A G het . 6 +intergenic MIR4708(dist=5541),FUT8(dist=69868) chr14 65807442 65807442 C T het . 2 +intronic FUT8 chr14 65934905 65934905 A C het . 6 +intronic FUT8 chr14 65935108 65935108 T - het . 2 +intronic FUT8 chr14 66108502 66108502 G T het . 2 +intergenic FUT8(dist=136815),CCDC196(dist=605435) chr14 66347654 66347654 G T het . 3 +intergenic FUT8(dist=431823),CCDC196(dist=310427) chr14 66642662 66642662 G A het . 2 +intronic GPHN chr14 67555878 67555878 A G het . 4 +intronic GPHN chr14 67580020 67580020 G A het . 5 +intronic FAM71D chr14 67665569 67665569 C A het . 5 +intronic FAM71D chr14 67691343 67691343 T - het . 9 +intronic ATP6V1D chr14 67814219 67814219 - T het . 7 +intronic ATP6V1D chr14 67819568 67819569 AA - het . 8 +intronic PLEKHH1 chr14 68044005 68044005 C T het . 4 +intronic RDH12 chr14 68189736 68189736 G T het . 2 +intronic RDH12 chr14 68191110 68191112 TTT - het . 4 +intronic ZFYVE26 chr14 68241611 68241611 A G het . 19 +intronic ZFYVE26 chr14 68241649 68241651 AAA - het . 13 +intronic ZFYVE26 chr14 68241721 68241721 G A het . 23 +intronic RAD51B chr14 68353541 68353541 C A het . 5 +intronic RAD51B chr14 68531298 68531298 G A het . 2 +intronic RAD51B chr14 68533465 68533465 C A het . 2 +intronic RAD51B chr14 68837773 68837773 G A het . 2 +intronic RAD51B chr14 68837792 68837792 - A het . 3 +intronic RAD51B chr14 68837800 68837800 A G het . 4 +intronic RAD51B chr14 68937089 68937089 C T het . 8 +intronic ZFP36L1 chr14 69257858 69257858 C T het . 7 +intergenic ZFP36L1(dist=34747),ACTN1(dist=43133) chr14 69297707 69297707 C T het . 2 +intergenic ZFP36L1(dist=49278),ACTN1(dist=28602) chr14 69312238 69312238 A - het . 2 +intergenic ZFP36L1(dist=63353),ACTN1(dist=14524) chr14 69326313 69326316 TTTG - het . 3 +intergenic ZFP36L1(dist=66069),ACTN1(dist=11811) chr14 69329029 69329029 T C het . 4 +ncRNA_intronic ACTN1-AS1 chr14 69447386 69447386 G A het . 2 +intergenic ACTN1-AS1(dist=53785),DCAF5(dist=9672) chr14 69507965 69507965 T C het . 2 +UTR3 DCAF5(NM_003861:c.*55delA,NM_001284207:c.*55delA,NM_001284206:c.*55delA) chr14 69520519 69520519 T - het . 4 +intronic DCAF5 chr14 69558387 69558387 T A het . 6 +intronic DCAF5 chr14 69619440 69619440 A T het . 5 +intronic EXD2 chr14 69667266 69667266 - A het . 3 +exonic EXD2 chr14 69704553 69704553 G T het . 4 +intronic GALNT16 chr14 69792824 69792824 G A het . 5 +intergenic SLC39A9(dist=1388),PLEKHD1(dist=20976) chr14 69930495 69930495 - A het . 3 +intronic SUSD6 chr14 70101496 70101496 C T het . 2 +intronic SUSD6 chr14 70151933 70151933 G A het . 1 +intergenic SUSD6(dist=44961),LOC100289511(dist=6178) chr14 70226822 70226822 T A het . 2 +intergenic SUSD6(dist=44993),LOC100289511(dist=6146) chr14 70226854 70226854 G A het . 2 +intronic SMOC1 chr14 70451758 70451758 G C het . 1 +intronic SMOC1 chr14 70451780 70451780 G A het . 2 +intronic SMOC1 chr14 70478174 70478174 A - het . 6 +intronic SMOC1 chr14 70478176 70478176 C T het . 6 +intronic SLC8A3 chr14 70530706 70530706 C G het . 7 +intergenic ADAM21P1(dist=4224),SYNJ2BP-COX16(dist=73056) chr14 70718742 70718742 A T het . 2 +intergenic ADAM21P1(dist=4233),SYNJ2BP-COX16(dist=73047) chr14 70718751 70718751 T A het . 2 +intergenic ADAM21P1(dist=6568),SYNJ2BP-COX16(dist=70710) chr14 70721086 70721088 TTT - het . 2 +intergenic ADAM21P1(dist=9175),SYNJ2BP-COX16(dist=68105) chr14 70723693 70723693 G A het . 2 +intronic COX16,SYNJ2BP-COX16 chr14 70795668 70795668 C T het . 1 +intergenic SYNJ2BP-COX16(dist=13509),ADAM21(dist=21558) chr14 70897316 70897316 T C het . 1 +ncRNA_intronic LOC101928075 chr14 71100457 71100457 A C het . 2 +intronic MAP3K9 chr14 71200552 71200552 T - het . 9 +intronic MAP3K9 chr14 71213561 71213561 A G het . 2 +intergenic MAP3K9(dist=82224),PCNX1(dist=16010) chr14 71358112 71358112 A - het . 2 +intronic PCNX1 chr14 71394051 71394051 G A het . 2 +intronic PCNX1 chr14 71502647 71502647 T - het . 3 +intronic PCNX1 chr14 71523962 71523962 C T het . 3 +intergenic PCNX1(dist=160652),SIPA1L1(dist=44436) chr14 71742751 71742751 C T het . 3 +intronic SIPA1L1 chr14 71850763 71850763 T C het . 2 +intronic SIPA1L1 chr14 72040525 72040525 G A het . 12 +intronic SIPA1L1 chr14 72066456 72066456 G A het . 2 +intergenic SIPA1L1(dist=100693),RGS6(dist=90178) chr14 72308639 72308639 T - het . 2 +intergenic SIPA1L1(dist=147247),RGS6(dist=43624) chr14 72355193 72355193 G A het . 2 +intronic RGS6 chr14 72415426 72415426 T C het . 3 +intronic RGS6 chr14 72465488 72465488 T C het . 1 +intronic RGS6 chr14 72773420 72773420 G T het . 13 +intronic RGS6 chr14 73014082 73014082 C - het . 7 +intergenic RGS6(dist=35391),DPF3(dist=17375) chr14 73068629 73068629 T C het . 1 +intergenic RGS6(dist=45901),DPF3(dist=6865) chr14 73079139 73079139 T - het . 6 +intronic DPF3 chr14 73196035 73196035 C T het . 1 +exonic DPF3 chr14 73220002 73220002 G T het . 5 +exonic DPF3 chr14 73220020 73220020 A G het . 5 +intronic DPF3 chr14 73277320 73277320 - AAAC het . 2 +intronic DPF3 chr14 73291259 73291259 - T het . 4 +intronic DPF3 chr14 73352078 73352081 GTTT - het . 8 +intergenic DPF3(dist=12270),DCAF4(dist=19946) chr14 73373094 73373094 G A het . 2 +exonic ZFYVE1 chr14 73465003 73465003 A G het . 4 +exonic RBM25 chr14 73538410 73538410 A C het . 31 +intronic RBM25 chr14 73554700 73554700 C A het . 9 +intronic RBM25 chr14 73554902 73554902 C A het . 16 +intergenic RBM25(dist=5492),PSEN1(dist=9575) chr14 73593568 73593568 C A het . 2 +exonic PSEN1 chr14 73685983 73685983 C A het . 39 +intronic PAPLN chr14 73727840 73727840 C A het . 16 +intronic NUMB chr14 73761247 73761247 T C het . 3 +exonic HEATR4 chr14 73963383 73963383 T C het . 18 +intergenic ACOT4(dist=11817),ACOT6(dist=9261) chr14 74074287 74074287 G - het . 1 +intergenic ACOT4(dist=11818),ACOT6(dist=9260) chr14 74074288 74074288 G A het . 1 +downstream ACOT6(dist=32) chr14 74086624 74086624 T - het . 2 +intergenic ACOT6(dist=4737),DNAL1(dist=20249) chr14 74091329 74091329 C - het . 2 +intronic DNAL1 chr14 74133573 74133573 C A het . 3 +intronic ELMSAN1 chr14 74191902 74191902 C A het . 13 +intronic PTGR2 chr14 74347786 74347786 C A het . 9 +intronic ZNF410 chr14 74394674 74394674 G A het . 2 +intronic COQ6,ENTPD5 chr14 74426285 74426285 T - het . 15 +intronic ENTPD5 chr14 74443829 74443829 T - het . 15 +intronic ENTPD5 chr14 74444090 74444090 - A het . 8 +intronic BBOF1 chr14 74516369 74516369 - A het . 4 +exonic ALDH6A1 chr14 74527370 74527370 A C het . 40 +intronic ALDH6A1 chr14 74534275 74534275 A - het . 29 +intergenic LIN52(dist=19154),VSX2(dist=19904) chr14 74686271 74686271 A G het . 2 +intronic VSX2 chr14 74708144 74708144 G C het . 5 +intergenic ABCD4(dist=19088),VRTN(dist=26311) chr14 74788855 74788855 - T het . 2 +intergenic ABCD4(dist=22367),VRTN(dist=23032) chr14 74792134 74792134 - CAAAAAA het . 2 +intronic NPC2 chr14 74953967 74953967 G T het . 2 +intronic LTBP2 chr14 74973559 74973559 T - het . 17 +intronic LTBP2 chr14 74973561 74973563 TGT - het . 17 +intronic LTBP2 chr14 74973589 74973589 C T het . 2 +intronic LTBP2 chr14 74973593 74973593 T C het . 2 +intronic LTBP2 chr14 74973595 74973595 T C het . 2 +intronic LTBP2 chr14 74976086 74976086 G A het . 10 +intronic LTBP2 chr14 75026097 75026097 G A het . 2 +intronic LTBP2 chr14 75026125 75026125 G T het . 2 +intronic AREL1 chr14 75156295 75156295 C T het . 2 +intronic AREL1 chr14 75171683 75171683 C T het . 2 +intronic AREL1 chr14 75174132 75174132 A G het . 2 +intronic FCF1 chr14 75181482 75181484 AAA - het . 21 +intronic YLPM1 chr14 75253847 75253847 A G het . 2 +intronic YLPM1 chr14 75279547 75279547 T A het . 5 +exonic PROX2 chr14 75329577 75329577 T G het . 11 +intronic MLH3 chr14 75497429 75497429 A - het . 18 +intronic MLH3 chr14 75506550 75506565 ATATATATATATATAT - het . 8 +intronic ACYP1 chr14 75528890 75528890 C T het . 3 +intronic ACYP1 chr14 75528926 75528926 T C het . 3 +exonic ACYP1 chr14 75535927 75535927 G A het . 5 +intronic NEK9 chr14 75556854 75556854 A T het . 3 +intronic NEK9 chr14 75580152 75580152 G A het . 14 +intronic NEK9 chr14 75580162 75580162 C A het . 14 +exonic NEK9 chr14 75583978 75583978 A C het . 15 +intronic TMED10 chr14 75614504 75614504 - CCCG het . 12 +intergenic LINC01220(dist=20428),JDP2(dist=110970) chr14 75783539 75783539 A G het . 3 +intergenic LINC01220(dist=64196),JDP2(dist=67202) chr14 75827307 75827307 C A het . 3 +intergenic LINC01220(dist=110248),JDP2(dist=21150) chr14 75873359 75873359 - TC het . 2 +intergenic BATF(dist=22868),LOC102724153(dist=5045) chr14 76036202 76036202 C A het . 2 +intronic TTLL5 chr14 76173953 76173953 T - het . 19 +intronic TTLL5 chr14 76238255 76238256 TT - het . 8 +intronic TTLL5 chr14 76250569 76250569 A T het . 2 +intronic TTLL5 chr14 76352929 76352929 C T het . 22 +intronic TTLL5 chr14 76356247 76356247 A G het . 1 +intergenic IFT43(dist=25250),GPATCH2L(dist=42886) chr14 76575342 76575342 G A het . 2 +intronic GPATCH2L chr14 76644050 76644050 G - het . 5 +exonic GPATCH2L chr14 76644419 76644419 C A het . 35 +intergenic GPATCH2L(dist=11478),ESRRB(dist=147066) chr14 76690624 76690624 C G het . 2 +intergenic GPATCH2L(dist=74988),ESRRB(dist=83556) chr14 76754134 76754134 C T het . 1 +intergenic GPATCH2L(dist=74995),ESRRB(dist=83549) chr14 76754141 76754141 T C het . 1 +intronic ESRRB chr14 76905633 76905633 A C het . 11 +intergenic ESRRB(dist=26803),VASH1(dist=233241) chr14 76994983 76994994 TTTTTTTTGTTG - het . 3 +intergenic ESRRB(dist=43534),VASH1(dist=216521) chr14 77011714 77011714 G A het . 2 +intergenic ESRRB(dist=69644),VASH1(dist=190411) chr14 77037824 77037824 A G het . 4 +intergenic ESRRB(dist=71111),VASH1(dist=188944) chr14 77039291 77039291 C T het . 1 +intergenic ESRRB(dist=143177),VASH1(dist=116878) chr14 77111357 77111357 C T het . 3 +intergenic ESRRB(dist=188764),VASH1(dist=71291) chr14 77156944 77156944 G A het . 2 +intergenic ESRRB(dist=202318),VASH1(dist=57737) chr14 77170498 77170498 T - het . 5 +intergenic LRRC74A(dist=3350),LINC01629(dist=85986) chr14 77339995 77339995 T G het . 1 +intergenic LRRC74A(dist=64414),LINC01629(dist=24920) chr14 77401059 77401061 CTT - het . 2 +exonic IRF2BPL chr14 77493648 77493650 GCG - het . 8 +exonic IRF2BPL chr14 77493762 77493767 TGCTGC - het . 11 +intronic TMEM63C chr14 77673235 77673235 T - het . 3 +intronic TMEM63C chr14 77681957 77681957 A G het . 3 +intronic TMEM63C chr14 77691851 77691851 T G het . 5 +intronic TMEM63C chr14 77691858 77691858 T G het . 4 +intronic TMEM63C chr14 77714583 77714583 A C het . 2 +intronic SAMD15 chr14 77856321 77856321 T C het . 1 +intronic SPTLC2 chr14 78006542 78006542 T - het . 1 +intronic SPTLC2 chr14 78017222 78017222 G A het . 2 +intergenic SPTLC2(dist=38004),ALKBH1(dist=17635) chr14 78121114 78121114 A G het . 2 +intronic SNW1 chr14 78187316 78187316 A C het . 3 +intronic SNW1 chr14 78188986 78188986 C A het . 10 +intronic SNW1 chr14 78189912 78189912 T G het . 2 +intronic SNW1 chr14 78200392 78200392 G T het . 8 +intronic ADCK1 chr14 78366933 78366933 - AAC het . 16 +intronic ADCK1 chr14 78366967 78366967 A G het . 15 +intergenic ADCK1(dist=126138),NRXN3(dist=110281) chr14 78526435 78526435 G A het . 5 +intergenic ADCK1(dist=168575),NRXN3(dist=67843) chr14 78568872 78568873 AC - het . 3 +intergenic ADCK1(dist=168590),NRXN3(dist=67829) chr14 78568887 78568887 C T het . 4 +intronic NRXN3 chr14 78744897 78744898 TG - het . 12 +intronic NRXN3 chr14 78900097 78900097 G T het . 2 +intronic NRXN3 chr14 79221534 79221534 T - het . 2 +intronic NRXN3 chr14 79226442 79226442 C T het . 1 +intronic NRXN3 chr14 79276733 79276733 C A het . 5 +intronic NRXN3 chr14 79957418 79957418 C T het . 2 +intronic NRXN3 chr14 80260759 80260759 T G het . 2 +intergenic NRXN3(dist=53460),DIO2(dist=275773) chr14 80388093 80388095 TTG - het . 9 +intergenic NRXN3(dist=166405),DIO2(dist=162830) chr14 80501038 80501038 G A het . 2 +ncRNA_intronic DIO2-AS1 chr14 80791821 80791821 A T het . 2 +intronic CEP128 chr14 81000571 81000571 T - het . 2 +intronic CEP128 chr14 81025522 81025522 C A het . 4 +intronic CEP128 chr14 81046810 81046810 - ACGAGTT het . 11 +intronic CEP128 chr14 81136974 81136974 T G het . 1 +intronic CEP128 chr14 81209639 81209639 T C het . 14 +intronic CEP128 chr14 81307218 81307218 T G het . 9 +intronic CEP128 chr14 81334187 81334187 C T het . 2 +intronic CEP128 chr14 81362143 81362143 A - het . 15 +exonic TSHR chr14 81422130 81422130 G C het . 25 +intronic TSHR chr14 81574839 81574839 T - het . 19 +intronic TSHR chr14 81574845 81574845 - TTTTTCTTTTTAC het . 24 +intronic STON2 chr14 81838497 81838497 T C het . 2 +intronic STON2 chr14 81838516 81838516 G A het . 2 +UTR3 SEL1L(NM_005065:c.*4547C>T) chr14 81938769 81938769 G A het . 5 +intergenic LINC02311(dist=340948),LINC02301(dist=558546) chr14 82550430 82550430 T - het . 3 +intergenic LINC02311(dist=420540),LINC02301(dist=478954) chr14 82630022 82630022 T A het . 2 +intergenic LINC02311(dist=789008),LINC02301(dist=110486) chr14 82998490 82998490 T C het . 2 +intergenic LINC02301(dist=114854),NONE(dist=NONE) chr14 83288023 83288023 A G het . 2 +intergenic LINC02301(dist=136236),NONE(dist=NONE) chr14 83309405 83309405 T A het . 3 +intergenic LINC02301(dist=366783),NONE(dist=NONE) chr14 83539952 83539952 - T het . 2 +intergenic LINC02301(dist=366795),NONE(dist=NONE) chr14 83539964 83539968 TTTTT - het . 2 +intergenic LINC02301(dist=434090),NONE(dist=NONE) chr14 83607259 83607259 G A het . 1 +intergenic LINC02301(dist=450408),NONE(dist=NONE) chr14 83623577 83623577 G A het . 2 +intergenic LINC02301(dist=471890),NONE(dist=NONE) chr14 83645059 83645059 T C het . 2 +intergenic LINC02301(dist=520159),NONE(dist=NONE) chr14 83693328 83693328 G A het . 1 +intergenic LINC02301(dist=667633),SNORD3P3(dist=1897474) chr14 83840802 83840802 T C het . 1 +intergenic LINC02301(dist=783665),SNORD3P3(dist=1781442) chr14 83956834 83956834 A G het . 2 +intergenic LINC02301(dist=895323),SNORD3P3(dist=1669767) chr14 84068492 84068509 ATGAAGAAATAATGTCAT - het . 2 +intergenic LINC02301(dist=998287),SNORD3P3(dist=1566820) chr14 84171456 84171456 G A het . 2 +intergenic LINC02301(dist=1334907),SNORD3P3(dist=1230200) chr14 84508076 84508076 C A het . 3 +intergenic LINC02301(dist=1429079),SNORD3P3(dist=1136025) chr14 84602248 84602251 GAGA - het . 2 +intergenic LINC02301(dist=1588931),SNORD3P3(dist=976176) chr14 84762100 84762100 C T het . 1 +intergenic LINC02301(dist=1649469),SNORD3P3(dist=915638) chr14 84822638 84822638 G A het . 3 +intergenic LINC02301(dist=1676916),SNORD3P3(dist=888191) chr14 84850085 84850085 - T het . 2 +intergenic LINC02301(dist=1829474),SNORD3P3(dist=735633) chr14 85002643 85002643 G T het . 1 +intergenic LINC02301(dist=1829484),SNORD3P3(dist=735623) chr14 85002653 85002653 T A het . 2 +intergenic LINC02301(dist=1847384),SNORD3P3(dist=717723) chr14 85020553 85020553 T G het . 2 +intergenic LINC02301(dist=1982977),SNORD3P3(dist=582130) chr14 85156146 85156146 A T het . 2 +intergenic NONE(dist=NONE),SNORD3P3(dist=11951) chr14 85726325 85726325 T C het . 2 +intergenic SNORD3P3(dist=79965),LINC02329(dist=35249) chr14 85818370 85818370 T A het . 3 +intergenic SNORD3P3(dist=79981),LINC02329(dist=35233) chr14 85818386 85818386 T A het . 3 +intergenic SNORD3P3(dist=94891),LINC02329(dist=20323) chr14 85833296 85833296 G T het . 2 +intergenic LINC00911(dist=108569),FLRT2(dist=1382) chr14 85994987 85994987 G A het . 7 +upstream FLRT2(dist=870) chr14 85995499 85995499 C A het . 9 +intronic FLRT2 chr14 86022035 86022035 A T het . 1 +ncRNA_intronic LINC02328 chr14 86586298 86586298 - T het . 2 +intergenic LINC02328(dist=43702),LINC01148(dist=732299) chr14 86639823 86639823 G A het . 2 +intergenic LINC02328(dist=181994),LINC01148(dist=594007) chr14 86778115 86778115 C T het . 2 +intergenic LINC02328(dist=326567),LINC01148(dist=449434) chr14 86922688 86922688 - T het . 2 +intergenic LINC02328(dist=350514),LINC01148(dist=425487) chr14 86946635 86946635 T C het . 1 +intergenic LINC01148(dist=216274),LINC02330(dist=495350) chr14 87605373 87605373 - TTTGTTTG het . 4 +intergenic LINC02330(dist=46074),GALC(dist=231646) chr14 88167712 88167712 T C het . 2 +intergenic LINC02330(dist=268612),GALC(dist=9108) chr14 88390250 88390250 - A het . 2 +intergenic LINC02330(dist=268614),GALC(dist=9106) chr14 88390252 88390252 - TGA het . 2 +intronic GALC chr14 88407717 88407717 A - het . 20 +intronic GALC chr14 88407734 88407734 G C het . 21 +intronic GALC chr14 88417096 88417096 A - het . 26 +intronic GALC chr14 88419668 88419668 C A het . 29 +intronic GALC chr14 88454870 88454870 A - het . 41 +ncRNA_intronic LINC01146 chr14 88516662 88516662 A G het . 1 +intronic KCNK10 chr14 88693988 88693988 C T het . 8 +intronic KCNK10 chr14 88707226 88707226 A - het . 13 +intergenic SPATA7(dist=16531),PTPN21(dist=10787) chr14 88921335 88921335 C A het . 16 +intronic PTPN21 chr14 88988788 88988788 G A het . 2 +intronic ZC3H14 chr14 89044657 89044657 T A het . 9 +intronic TTC8 chr14 89305987 89305987 A - het . 13 +intronic TTC8 chr14 89310105 89310105 - A het . 26 +exonic TTC8 chr14 89337996 89337996 C A het . 28 +intronic TTC8 chr14 89343511 89343511 A - het . 10 +intronic FOXN3 chr14 89757367 89757367 T G het . 1 +ncRNA_exonic FOXN3-AS1 chr14 89885562 89885562 C A het . 17 +intergenic FOXN3(dist=118036),EFCAB11(dist=57806) chr14 90203530 90203530 G C het . 16 +intergenic FOXN3(dist=172861),EFCAB11(dist=2981) chr14 90258355 90258355 G T het . 2 +intronic EFCAB11 chr14 90285802 90285804 CAC - het . 2 +intronic EFCAB11 chr14 90352236 90352236 C T het . 2 +intronic TDP1 chr14 90458397 90458397 - T het . 20 +exonic KCNK13 chr14 90528842 90528842 C A het . 10 +intronic PSMC1 chr14 90723152 90723152 A G het . 3 +intronic PSMC1 chr14 90729984 90729984 C T het . 10 +intergenic NRDE2(dist=34543),CALM1(dist=29822) chr14 90833024 90833024 A - het . 7 +UTR5 CALM1(NM_006888:c.-86G>A) chr14 90863489 90863489 G A het . 7 +intronic CALM1 chr14 90870940 90870940 C A het . 18 +intergenic CALM1(dist=35507),LINC02317(dist=8281) chr14 90910126 90910126 G A het . 3 +intergenic CALM1(dist=37253),LINC02317(dist=6535) chr14 90911872 90911872 A T het . 2 +intergenic LINC00642(dist=11724),LOC105370619(dist=45177) chr14 90936973 90936973 - A het . 2 +intergenic LINC00642(dist=15646),LOC105370619(dist=41255) chr14 90940895 90940895 A G het . 2 +intronic TTC7B chr14 91146765 91146765 A G het . 17 +intronic TTC7B chr14 91195039 91195039 T C het . 2 +intronic TTC7B chr14 91246814 91246814 - AAAGAAAGAAAG het . 3 +intronic RPS6KA5 chr14 91372685 91372685 - A het . 7 +intronic RPS6KA5 chr14 91409616 91409616 T - het . 14 +intronic DGLUCY chr14 91636281 91636281 A G het . 5 +intronic DGLUCY chr14 91653351 91653351 T - het . 2 +intronic DGLUCY chr14 91662359 91662359 C G het . 1 +intronic DGLUCY chr14 91690001 91690001 T - het . 8 +exonic CCDC88C chr14 91739081 91739081 A G het . 3 +intronic CCDC88C chr14 91751789 91751789 C - het . 3 +exonic CCDC88C chr14 91805796 91805796 T G het . 4 +intronic CCDC88C chr14 91808690 91808690 C T het . 5 +intronic CCDC88C chr14 91850618 91850620 TTT - het . 5 +intronic CCDC88C chr14 91871323 91871323 G A het . 1 +intronic PPP4R3A chr14 91925254 91925254 A T het . 8 +intronic PPP4R3A chr14 91927521 91927521 G T het . 2 +intronic PPP4R3A chr14 91928301 91928301 C A het . 4 +intronic CATSPERB chr14 92055823 92055823 C A het . 4 +intronic CATSPERB chr14 92074856 92074856 C A het . 8 +intronic CATSPERB chr14 92112746 92112746 T C het . 1 +intronic CATSPERB chr14 92165920 92165920 T - het . 2 +intronic CATSPERB chr14 92182938 92182938 T C het . 2 +intronic TC2N chr14 92258905 92258905 - A het . 15 +intronic TC2N chr14 92264081 92264081 A - het . 4 +intronic FBLN5 chr14 92344244 92344244 T C het . 14 +intronic FBLN5 chr14 92344249 92344249 T G het . 13 +intronic TRIP11 chr14 92454604 92454604 A G het . 26 +intronic TRIP11 chr14 92461964 92461966 TTT - het . 9 +intronic TRIP11 chr14 92466485 92466486 AC - het . 21 +intronic TRIP11 chr14 92487733 92487733 A - het . 6 +intronic TRIP11 chr14 92490734 92490734 A T het . 2 +intergenic TRIP11(dist=11567),ATXN3(dist=6926) chr14 92517970 92517970 C T het . 3 +UTR3 ATXN3(NM_001164776:c.*287G>A,NM_001164774:c.*287G>A,NM_001164778:c.*287G>A,NM_001164777:c.*287G>A,NM_001164782:c.*287G>A,NM_001164781:c.*151G>A,NM_001127697:c.*151G>A,NM_001127696:c.*151G>A,NM_001164780:c.*151G>A,NM_001164779:c.*151G>A,NM_030660:c.*151G>A,NM_004993:c.*151G>A) chr14 92530513 92530513 C T het . 4 +exonic ATXN3 chr14 92537353 92537353 - G het . 24 +exonic ATXN3 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTG het . 24 +exonic ATXN3 chr14 92549586 92549586 G A het . 23 +splicing ATXN3(NM_001164781:exon5:c.266-2->T,NM_001127697:exon5:c.323-2->T,NM_001127696:exon6:c.431-2->T,NM_001164780:exon4:UTR5,NM_001164779:exon3:c.113-2->T,NM_030660:exon6:c.311-2->T,NM_004993:exon7:c.476-2->T) chr14 92549604 92549604 - A het . 13 +intronic ATXN3 chr14 92549632 92549632 C A het . 18 +intronic ATXN3 chr14 92555199 92555199 T C het . 12 +intronic ATXN3 chr14 92562825 92562825 G A het . 3 +intronic NDUFB1 chr14 92582655 92582655 T A het . 7 +intronic NDUFB1 chr14 92582680 92582680 T C het . 4 +intronic NDUFB1 chr14 92584021 92584021 - TTTT het . 19 +intronic NDUFB1 chr14 92584064 92584064 A G het . 20 +upstream CPSF2,NDUFB1(dist=139) chr14 92588156 92588159 TTTT - het . 9 +upstream CPSF2,NDUFB1(dist=106) chr14 92588192 92588192 T C het . 11 +intronic CPSF2 chr14 92620078 92620078 T C het . 2 +intergenic CPSF2(dist=62496),SLC24A4(dist=95886) chr14 92693039 92693039 T C het . 4 +intergenic CPSF2(dist=102432),SLC24A4(dist=55950) chr14 92732975 92732975 - TTTT het . 2 +intronic SLC24A4 chr14 92858896 92858896 T C het . 1 +exonic SLC24A4 chr14 92922894 92922894 A G het . 30 +exonic SLC24A4 chr14 92922900 92922900 G A het . 29 +intronic RIN3 chr14 93024701 93024701 T A het . 2 +exonic RIN3 chr14 93118669 93118669 G A het . 4 +exonic LGMN chr14 93171033 93171033 T C het . 25 +intronic LGMN chr14 93180128 93180128 A C het . 7 +intronic LGMN chr14 93180141 93180141 A C het . 10 +intronic LGMN chr14 93180143 93180143 A C het . 10 +intronic GOLGA5 chr14 93290856 93290856 T C het . 8 +intronic GOLGA5 chr14 93290859 93290859 C T het . 8 +intergenic GOLGA5(dist=11191),LINC02287(dist=54545) chr14 93317497 93317497 - A het . 2 +intergenic LINC02287(dist=2053),CHGA(dist=13565) chr14 93375880 93375880 C T het . 3 +intronic CHGA chr14 93396058 93396058 C A het . 21 +exonic CHGA chr14 93398988 93398990 AGG - het . 24 +intronic UBR7 chr14 93676430 93676430 T A het . 9 +intronic UBR7 chr14 93684767 93684767 A T het . 15 +intronic UBR7 chr14 93685401 93685401 A - het . 14 +intronic UBR7 chr14 93686320 93686320 A - het . 5 +intronic UBR7 chr14 93686569 93686571 TTT - het . 12 +intronic UBR7 chr14 93688801 93688801 C A het . 22 +UTR3 UBR7(NM_175748:c.*450C>T) chr14 93693831 93693831 C T het . 33 +intronic UNC79 chr14 93863471 93863471 - G het . 2 +intronic UNC79 chr14 93962691 93962691 G A het . 11 +intronic UNC79 chr14 94066889 94066889 T - het . 6 +intergenic PRIMA1(dist=108450),FAM181A-AS1(dist=7864) chr14 94363216 94363216 G T het . 2 +downstream ASB2(dist=68) chr14 94400431 94400431 T C het . 2 +intronic DDX24 chr14 94531802 94531802 T C het . 2 +exonic DDX24 chr14 94545821 94545823 CCT - het . 31 +exonic;splicing IFI27;IFI27(NM_001130080:exon4:c.122-1->GGCCATGGC,NM_001288952:exon5:c.122-1->GGCCATGGC,NM_001288956:exon4:c.122-1->GGCCATGGC,NM_001288959:exon3:UTR5) chr14 94582130 94582130 - GGCCATGGC het . 2 +intronic PPP4R4 chr14 94681891 94681891 G A het . 2 +intronic PPP4R4 chr14 94696809 94696810 AT - het . 7 +intronic PPP4R4 chr14 94697192 94697192 G A het . 2 +intronic PPP4R4 chr14 94697200 94697200 G T het . 1 +intronic PPP4R4 chr14 94708494 94708494 C T het . 6 +intronic PPP4R4 chr14 94722748 94722748 T C het . 4 +intronic PPP4R4 chr14 94731028 94731028 C A het . 7 +intronic SERPINA10 chr14 94754998 94754998 C A het . 18 +exonic SERPINA10 chr14 94756794 94756794 T C het . 18 +exonic SERPINA4 chr14 95033435 95033435 T C het . 21 +exonic SERPINA4 chr14 95035923 95035923 G A het . 13 +ncRNA_exonic SERPINA13P chr14 95109833 95109833 G A het . 5 +intergenic SERPINA13P(dist=57825),GSC(dist=63404) chr14 95171156 95171156 A - het . 2 +intergenic GSC-DT(dist=288872),DICER1(dist=23749) chr14 95528816 95528816 - CTGCT het . 4 +intronic DICER1 chr14 95566108 95566108 C A het . 10 +intronic DICER1 chr14 95574594 95574594 - T het . 12 +intronic DICER1 chr14 95593187 95593187 A - het . 5 +intronic SYNE3 chr14 95886320 95886320 C T het . 2 +intronic SYNE3 chr14 95898487 95898487 G A het . 9 +intronic SYNE3 chr14 95910970 95910971 AG - het . 11 +intergenic SYNE3(dist=55365),SNHG10(dist=1712) chr14 95997537 95997537 G A het . 2 +intronic TCL1B chr14 96154865 96154865 G A het . 2 +intronic TCL1B chr14 96154895 96154895 G A het . 2 +intronic TCL1B chr14 96157331 96157331 G T het . 2 +intergenic LOC107984703(dist=106040),TUNAR(dist=13573) chr14 96329156 96329156 A - het . 2 +intergenic TUNAR(dist=90972),C14orf132(dist=22781) chr14 96482880 96482880 C T het . 1 +intergenic TUNAR(dist=94204),C14orf132(dist=19549) chr14 96486112 96486112 C T het . 2 +UTR3 C14orf132(NM_001289139:c.*4308A>C,NM_001252507:c.*4308A>C,NM_001282463:c.*4308A>C) chr14 96557380 96557380 A C het . 19 +intronic ATG2B chr14 96753611 96753611 C A het . 3 +intronic AK7 chr14 96953484 96953484 A G het . 4 +intergenic AK7(dist=6663),LOC730202(dist=5558) chr14 96962427 96962427 G A het . 2 +UTR3 PAPOLA(NM_001252007:c.*589_*592delTGTG) chr14 96998622 96998625 TGTG - het . 3 +intergenic PAPOLA(dist=96390),LINC02299(dist=77685) chr14 97129843 97129843 T A het . 2 +ncRNA_intronic LINC02299 chr14 97212839 97212843 AAGAA - het . 2 +intronic VRK1 chr14 97285943 97285943 G T het . 21 +intronic VRK1 chr14 97327098 97327098 - TG het . 31 +intronic VRK1 chr14 97342335 97342336 TC - het . 31 +intergenic VRK1(dist=10927),LINC00618(dist=51038) chr14 97358878 97358878 T G het . 1 +intergenic VRK1(dist=10929),LINC00618(dist=51036) chr14 97358880 97358880 G C het . 1 +intergenic VRK1(dist=33533),LINC00618(dist=28432) chr14 97381484 97381484 C A het . 2 +intergenic LINC02304(dist=132838),LINC02325(dist=167242) chr14 97757911 97757911 T G het . 2 +ncRNA_intronic LINC02325 chr14 97979119 97979119 G A het . 2 +ncRNA_intronic LINC02291 chr14 98142298 98142298 A T het . 2 +ncRNA_exonic LINC01550 chr14 98435696 98435696 T C het . 15 +intergenic LINC01550(dist=137680),C14orf177(dist=595808) chr14 98582141 98582142 AA TT het . 2 +exonic BCL11B chr14 99641446 99641446 A C het . 13 +exonic BCL11B chr14 99641544 99641546 CTC - het . 14 +exonic BCL11B chr14 99641652 99641652 G A het . 14 +intronic BCL11B chr14 99642647 99642647 T A het . 2 +intronic BCL11B chr14 99676807 99676807 A G het . 2 +exonic HHIPL1 chr14 100141689 100141689 T C het . 1 +exonic CYP46A1 chr14 100173967 100173967 G A het . 13 +intronic EML1 chr14 100357643 100357643 C T het . 3 +intronic EVL chr14 100594701 100594701 G A het . 3 +intronic EVL chr14 100599038 100599038 C A het . 17 +intergenic DEGS2(dist=43428),YY1(dist=35662) chr14 100669440 100669440 C G het . 2 +intergenic DEGS2(dist=47201),YY1(dist=31889) chr14 100673213 100673213 A G het . 2 +intronic YY1 chr14 100728500 100728501 AA - het . 10 +intronic YY1 chr14 100742658 100742658 T C het . 2 +exonic SLC25A47 chr14 100795821 100795821 C T het . 12 +intronic WARS chr14 100834542 100834542 T C het . 3 +intronic WDR25 chr14 100947776 100947776 - T het . 16 +exonic BEGAIN chr14 101005020 101005020 C A het . 11 +exonic DLK1 chr14 101198417 101198417 A G het . 7 +intergenic DLK1(dist=11516),MIR2392(dist=64751) chr14 101216077 101216077 C T het . 2 +intergenic MIR2392(dist=4526),MEG3(dist=7008) chr14 101285437 101285437 G A het . 2 +ncRNA_intronic MEG8 chr14 101418408 101418408 C T het . 9 +ncRNA_intronic MEG8 chr14 101419919 101419919 G A het . 2 +ncRNA_intronic MEG8 chr14 101429568 101429568 G A het . 4 +ncRNA_intronic MEG8 chr14 101433297 101433297 C T het . 8 +ncRNA_intronic MEG8 chr14 101439870 101439870 G T het . 3 +ncRNA_exonic SNORD114-31 chr14 101459593 101459593 G C het . 19 +upstream;downstream MIR329-1,MIR758(dist=160);MIR1197,MIR323A,MIR380(dist=43) chr14 101492197 101492197 T G het . 4 +downstream MIR543(dist=124) chr14 101498525 101498525 - T het . 2 +intergenic MEG9(dist=41614),LINC02285(dist=6306) chr14 101580887 101580887 A G het . 1 +intronic PPP2R5C chr14 102305688 102305688 A - het . 3 +intronic DYNC1H1 chr14 102450010 102450010 T - het . 22 +intronic DYNC1H1 chr14 102476131 102476131 T - het . 8 +intronic DYNC1H1 chr14 102496395 102496396 GT - het . 7 +intronic DYNC1H1 chr14 102506168 102506179 TTTTATTTTCTT - het . 14 +intronic DYNC1H1 chr14 102507751 102507751 C T het . 3 +intronic DYNC1H1 chr14 102510428 102510428 A G het . 11 +exonic DYNC1H1 chr14 102510793 102510793 C T het . 39 +intronic DYNC1H1 chr14 102514435 102514435 T G het . 4 +intronic DYNC1H1 chr14 102516262 102516262 C T het . 20 +exonic DYNC1H1 chr14 102516457 102516457 C T het . 32 +exonic HSP90AA1 chr14 102551161 102551163 TCT - het . 32 +intronic HSP90AA1 chr14 102551795 102551795 - TAA het . 22 +intronic HSP90AA1 chr14 102552773 102552773 A G het . 16 +intronic HSP90AA1 chr14 102552775 102552775 T G het . 16 +intronic HSP90AA1 chr14 102604350 102604350 G A het . 1 +intronic MOK chr14 102749949 102749949 C A het . 10 +intronic ZNF839 chr14 102802936 102802936 - T het . 13 +intronic ZNF839 chr14 102803071 102803071 T - het . 10 +intronic CINP chr14 102829141 102829141 C A het . 16 +intronic TECPR2 chr14 102839250 102839250 - A het . 4 +intronic TECPR2 chr14 102839525 102839525 - T het . 2 +intronic TECPR2 chr14 102849752 102849752 T - het . 3 +exonic TECPR2 chr14 102894593 102894593 G A het . 4 +exonic TECPR2 chr14 102901491 102901491 C A het . 16 +exonic TECPR2 chr14 102963335 102963335 T G het . 12 +UTR3 TECPR2(NM_014844:c.*841A>G) chr14 102965435 102965435 A G het . 12 +UTR3 TECPR2(NM_014844:c.*843A>T) chr14 102965437 102965437 A T het . 12 +intergenic ANKRD9(dist=16004),MIR4309(dist=13834) chr14 102992147 102992147 - TCTT het . 5 +intergenic LINC02323(dist=15866),RCOR1(dist=20967) chr14 103038029 103038029 C A het . 2 +intronic RCOR1 chr14 103187266 103187266 C G het . 7 +intronic TRAF3 chr14 103361435 103361435 A G het . 13 +intronic AMN chr14 103395364 103395364 A C het . 5 +intronic CDC42BPB chr14 103425947 103425947 A - het . 10 +intronic CDC42BPB chr14 103465846 103465846 A T het . 9 +upstream LBHD2(dist=638) chr14 103549909 103549909 T - het . 2 +UTR3 EXOC3L4(NM_001077594:c.*244delG) chr14 103576804 103576804 G - het . 3 +intronic TNFAIP2 chr14 103595997 103595997 G C het . 2 +intronic TNFAIP2 chr14 103599311 103599311 G A het . 3 +intergenic TNFAIP2(dist=11543),LINC00605(dist=38239) chr14 103615319 103615319 T G het . 7 +intronic EIF5 chr14 103806219 103806219 G A het . 3 +intergenic EIF5(dist=3729),MARK3(dist=36611) chr14 103815090 103815090 G T het . 2 +intergenic EIF5(dist=29935),MARK3(dist=10405) chr14 103841296 103841296 C T het . 6 +intronic MARK3 chr14 103878882 103878882 T C het . 5 +intronic MARK3 chr14 103915216 103915219 TGTT - het . 15 +intronic MARK3 chr14 103915226 103915226 A - het . 18 +intronic MARK3 chr14 103925288 103925288 A - het . 6 +intronic MARK3 chr14 103929057 103929057 T G het . 2 +intronic MARK3 chr14 103937086 103937086 G A het . 2 +intronic MARK3 chr14 103964808 103964808 T - het . 17 +intronic MARK3 chr14 103966601 103966601 C A het . 6 +intergenic MARK3(dist=8520),CKB(dist=7309) chr14 103978686 103978686 T C het . 2 +intergenic MARK3(dist=10589),CKB(dist=5240) chr14 103980755 103980755 C - het . 2 +intronic APOPT1 chr14 104029792 104029792 G A het . 2 +intronic APOPT1 chr14 104040414 104040414 C A het . 13 +exonic APOPT1 chr14 104053623 104053623 C A het . 22 +intronic APOPT1 chr14 104053850 104053850 T C het . 3 +intergenic APOPT1(dist=30018),KLC1(dist=6997) chr14 104088528 104088528 G C het . 2 +intergenic APOPT1(dist=33675),KLC1(dist=3340) chr14 104092185 104092185 T C het . 1 +intronic KLC1 chr14 104114961 104114961 T A het . 5 +intronic KLC1 chr14 104136633 104136633 G C het . 17 +exonic KLC1 chr14 104145843 104145843 C T het . 9 +intronic KLC1,XRCC3 chr14 104165457 104165457 T C het . 22 +exonic XRCC3 chr14 104174877 104174877 C A het . 41 +intronic XRCC3 chr14 104179314 104179314 T C het . 1 +intergenic LINC00637(dist=15960),ATP5MPL(dist=38279) chr14 104340346 104340346 T C het . 2 +intergenic LINC00637(dist=26444),ATP5MPL(dist=27794) chr14 104350830 104350831 TC - het . 2 +intronic TDRD9 chr14 104465129 104465129 T - het . 8 +intronic TDRD9 chr14 104481200 104481200 - T het . 4 +intronic TDRD9 chr14 104498531 104498535 TCTTT - het . 7 +intergenic C14orf144(dist=210122),C14orf180(dist=81493) chr14 104964528 104964528 A - het . 2 +intergenic C14orf144(dist=210151),C14orf180(dist=81464) chr14 104964557 104964557 - C het . 2 +intronic INF2 chr14 105179081 105179081 G A het . 3 +intronic INF2 chr14 105179107 105179107 A C het . 4 +exonic ADSSL1 chr14 105209422 105209422 C T het . 14 +intergenic ZBTB42(dist=4262),LINC00638(dist=12225) chr14 105275310 105275313 CTTT - het . 2 +downstream LINC00638(dist=161) chr14 105290216 105290216 G C het . 2 +intronic CEP170B chr14 105359306 105359306 G C het . 1 +downstream CEP170B(dist=35) chr14 105363142 105363142 T G het . 11 +downstream CEP170B(dist=50) chr14 105363157 105363157 A G het . 7 +exonic AHNAK2 chr14 105411700 105411700 A G het . 44 +exonic AHNAK2 chr14 105416010 105416010 T C het . 13 +intronic AHNAK2 chr14 105431949 105431949 A C het . 1 +intronic AHNAK2 chr14 105434427 105434427 T G het . 2 +intergenic CLBA1(dist=9453),CDCA4(dist=4602) chr14 105471308 105471308 C T het . 3 +intergenic LINC02298(dist=10831),JAG2(dist=30652) chr14 105576664 105576666 TAT - het . 3 +intergenic LINC02298(dist=10850),JAG2(dist=30635) chr14 105576683 105576683 T - het . 3 +intergenic LINC02298(dist=10857),JAG2(dist=30628) chr14 105576690 105576690 - G het . 3 +intergenic LINC02298(dist=10861),JAG2(dist=30624) chr14 105576694 105576694 T G het . 3 +intergenic LINC02298(dist=30622),JAG2(dist=10862) chr14 105596455 105596456 TT - het . 4 +intronic JAG2 chr14 105622056 105622056 A G het . 23 +intronic NUDT14 chr14 105643652 105643652 A C het . 2 +intronic BRF1 chr14 105752839 105752839 T G het . 10 +intronic BRF1 chr14 105758018 105758018 G A het . 1 +exonic PACS2 chr14 105849713 105849713 A C het . 12 +exonic PACS2 chr14 105849721 105849721 A C het . 13 +exonic PACS2 chr14 105849728 105849728 T G het . 12 +intronic MTA1 chr14 105896857 105896857 A G het . 1 +intronic CRIP2 chr14 105945726 105945726 C T het . 7 +intronic TEDC1 chr14 105962234 105962234 T C het . 7 +downstream MIR8071-1,MIR8071-2(dist=865) chr14 106088382 106088382 T C het . 2 +intergenic MIR8071-1(dist=4969),MIR8071-1(dist=14019) chr14 106092486 106092486 T C het . 2 +downstream ELK2AP(dist=611) chr14 106135303 106135303 C A het . 5 +intergenic ELK2AP(dist=57192),MIR4507(dist=127957) chr14 106196336 106196336 A G het . 2 +intergenic ELK2AP(dist=57198),MIR4507(dist=127951) chr14 106196342 106196342 G A het . 2 +intergenic ELK2AP(dist=179296),MIR4507(dist=5853) chr14 106318440 106318440 T C het . 9 +intergenic ELK2AP(dist=179306),MIR4507(dist=5843) chr14 106318450 106318450 G A het . 11 +intergenic ELK2AP(dist=182446),MIR4507(dist=2703) chr14 106321590 106321590 C A het . 11 +intergenic MIR4539(dist=2851),FAM30A(dist=54403) chr14 106329435 106329435 T G het . 14 +intergenic MIR4539(dist=2866),FAM30A(dist=54387) chr14 106329450 106329451 TG - het . 15 +intergenic MIR4539(dist=2869),FAM30A(dist=54385) chr14 106329453 106329453 - CC het . 15 +intergenic MIR4539(dist=3335),FAM30A(dist=53919) chr14 106329919 106329919 G A het . 9 +intergenic MIR4539(dist=3736),FAM30A(dist=53518) chr14 106330320 106330320 A C het . 9 +intergenic MIR4539(dist=3786),FAM30A(dist=53468) chr14 106330370 106330370 G A het . 22 +intergenic MIR4539(dist=30862),FAM30A(dist=26392) chr14 106357446 106357446 G A het . 10 +intergenic MIR4539(dist=30883),FAM30A(dist=26371) chr14 106357467 106357467 G A het . 15 +intergenic MIR4539(dist=30886),FAM30A(dist=26368) chr14 106357470 106357470 C T het . 15 +intergenic MIR4539(dist=42751),FAM30A(dist=14503) chr14 106369335 106369335 G A het . 4 +intergenic MIR4539(dist=46501),FAM30A(dist=10752) chr14 106373085 106373086 TT CC het . 5 +intergenic ADAM6(dist=14103),LINC00226(dist=291808) chr14 106452461 106452461 - A het . 2 +intergenic ADAM6(dist=32737),LINC00226(dist=273174) chr14 106471095 106471095 C T het . 3 +intergenic ADAM6(dist=33052),LINC00226(dist=272859) chr14 106471410 106471410 T C het . 16 +intergenic ADAM6(dist=33059),LINC00226(dist=272852) chr14 106471417 106471417 G A het . 19 +intergenic ADAM6(dist=33068),LINC00226(dist=272843) chr14 106471426 106471426 G T het . 20 +intergenic ADAM6(dist=33079),LINC00226(dist=272832) chr14 106471437 106471437 G T het . 26 +intergenic ADAM6(dist=39674),LINC00226(dist=266237) chr14 106478032 106478032 A T het . 2 +intergenic ADAM6(dist=39695),LINC00226(dist=266216) chr14 106478053 106478053 C A het . 3 +intergenic ADAM6(dist=40106),LINC00226(dist=265805) chr14 106478464 106478464 T C het . 6 +intergenic ADAM6(dist=42964),LINC00226(dist=262947) chr14 106481322 106481322 T C het . 2 +intergenic ADAM6(dist=42966),LINC00226(dist=262945) chr14 106481324 106481324 C T het . 2 +intergenic ADAM6(dist=42995),LINC00226(dist=262916) chr14 106481353 106481353 C A het . 2 +intergenic ADAM6(dist=84714),LINC00226(dist=221197) chr14 106523072 106523072 C - het . 2 +intergenic ADAM6(dist=286787),LINC00226(dist=19124) chr14 106725145 106725145 T G het . 3 +upstream LINC00226(dist=44) chr14 106744225 106744225 C T het . 12 +intergenic LINC00226(dist=21504),LINC00221(dist=171975) chr14 106766470 106766470 G T het . 2 +intergenic LINC00226(dist=60415),LINC00221(dist=133064) chr14 106805381 106805381 T G het . 26 +intergenic LINC00226(dist=60429),LINC00221(dist=133050) chr14 106805395 106805395 G A het . 22 +intergenic LINC00226(dist=60436),LINC00221(dist=133043) chr14 106805402 106805402 T G het . 25 +intergenic LINC00226(dist=60442),LINC00221(dist=133037) chr14 106805408 106805408 C T het . 24 +intergenic LINC00226(dist=60451),LINC00221(dist=133028) chr14 106805417 106805417 C A het . 21 +intergenic LINC00226(dist=60473),LINC00221(dist=133005) chr14 106805439 106805440 TA CG het . 12 +intergenic LINC00226(dist=60474),LINC00221(dist=133005) chr14 106805440 106805440 A G het . 12 +intergenic LINC00226(dist=121599),LINC00221(dist=71880) chr14 106866565 106866565 C A het . 25 +intergenic LINC00226(dist=121622),LINC00221(dist=71857) chr14 106866588 106866588 T C het . 21 +intergenic LINC00226(dist=121899),LINC00221(dist=71580) chr14 106866865 106866865 G C het . 22 +intergenic LINC00226(dist=121903),LINC00221(dist=71576) chr14 106866869 106866869 G A het . 21 +intergenic LINC00226(dist=121925),LINC00221(dist=71554) chr14 106866891 106866891 G T het . 13 +intergenic LINC00226(dist=121927),LINC00221(dist=71552) chr14 106866893 106866893 G A het . 13 +intergenic LINC00226(dist=131934),LINC00221(dist=61545) chr14 106876900 106876900 A T het . 2 +intergenic LINC00226(dist=132553),LINC00221(dist=60926) chr14 106877519 106877519 A G het . 2 +intergenic LINC00226(dist=132569),LINC00221(dist=60910) chr14 106877535 106877535 C G het . 1 +intergenic LINC00226(dist=132830),LINC00221(dist=60649) chr14 106877796 106877796 G C het . 21 +intergenic LINC00226(dist=132853),LINC00221(dist=60625) chr14 106877819 106877820 TA - het . 14 +intergenic LINC00226(dist=132856),LINC00221(dist=60623) chr14 106877822 106877822 T - het . 14 +intergenic LINC00226(dist=133251),LINC00221(dist=60228) chr14 106878217 106878217 A G het . 2 +intergenic LINC00226(dist=133260),LINC00221(dist=60219) chr14 106878226 106878226 A G het . 1 +intergenic LINC00226(dist=134787),LINC00221(dist=58692) chr14 106879753 106879753 - A het . 2 +intergenic LINC00226(dist=134807),LINC00221(dist=58672) chr14 106879773 106879773 C T het . 2 +intergenic LINC00226(dist=171854),LINC00221(dist=21625) chr14 106916820 106916820 C T het . 7 +intergenic LINC00226(dist=174462),LINC00221(dist=19017) chr14 106919428 106919428 G A het . 10 +intergenic LINC00226(dist=174469),LINC00221(dist=19010) chr14 106919435 106919435 C T het . 9 +intergenic LINC00226(dist=174497),LINC00221(dist=18982) chr14 106919463 106919463 A C het . 8 +intergenic LINC00226(dist=174517),LINC00221(dist=18962) chr14 106919483 106919483 C T het . 6 +intergenic LINC00226(dist=175536),LINC00221(dist=17943) chr14 106920502 106920502 T C het . 2 +intergenic LINC00226(dist=175562),LINC00221(dist=17917) chr14 106920528 106920528 T - het . 3 +intergenic LINC00226(dist=177402),LINC00221(dist=16077) chr14 106922368 106922368 C T het . 1 +intergenic LINC00226(dist=183192),LINC00221(dist=10287) chr14 106928158 106928158 G C het . 1 +intergenic LINC00221(dist=26380),MIR5195(dist=281191) chr14 106977909 106977909 C T het . 3 +intergenic LINC00221(dist=42060),MIR5195(dist=265511) chr14 106993589 106993589 T A het . 6 +intergenic LINC00221(dist=42193),MIR5195(dist=265378) chr14 106993722 106993722 T C het . 2 +intergenic LINC00221(dist=72151),MIR5195(dist=235420) chr14 107023680 107023680 A G het . 2 +intergenic LINC00221(dist=72160),MIR5195(dist=235411) chr14 107023689 107023689 C T het . 2 +intergenic LINC00221(dist=83317),MIR5195(dist=224253) chr14 107034846 107034847 TC GT het . 41 +intergenic LINC00221(dist=83325),MIR5195(dist=224246) chr14 107034854 107034854 C A het . 40 +intergenic LINC00221(dist=83334),MIR5195(dist=224237) chr14 107034863 107034863 C T het . 39 +intergenic LINC00221(dist=83340),MIR5195(dist=224230) chr14 107034869 107034870 AG CA het . 43 +intergenic LINC00221(dist=83344),MIR5195(dist=224226) chr14 107034873 107034874 GA CC het . 42 +intergenic LINC00221(dist=83491),MIR5195(dist=224080) chr14 107035020 107035020 C T het . 15 +intergenic LINC00221(dist=83509),MIR5195(dist=224061) chr14 107035038 107035039 GG AT het . 16 +intergenic LINC00221(dist=83513),MIR5195(dist=224058) chr14 107035042 107035042 G A het . 15 +intergenic LINC00221(dist=83535),MIR5195(dist=224036) chr14 107035064 107035064 G A het . 17 +intergenic LINC00221(dist=83537),MIR5195(dist=224034) chr14 107035066 107035066 C T het . 18 +intergenic LINC00221(dist=83539),MIR5195(dist=224032) chr14 107035068 107035068 C G het . 18 +intergenic LINC00221(dist=143191),MIR5195(dist=164380) chr14 107094720 107094720 T C het . 9 +intergenic LINC00221(dist=143207),MIR5195(dist=164364) chr14 107094736 107094736 G C het . 9 +intergenic LINC00221(dist=143216),MIR5195(dist=164355) chr14 107094745 107094745 A G het . 8 +intergenic LINC00221(dist=143239),MIR5195(dist=164331) chr14 107094768 107094769 GA AG het . 6 +intergenic LINC00221(dist=143245),MIR5195(dist=164326) chr14 107094774 107094774 T C het . 6 +intergenic LINC00221(dist=143255),MIR5195(dist=164316) chr14 107094784 107094784 T C het . 3 +intergenic LINC00221(dist=143797),MIR5195(dist=163774) chr14 107095326 107095326 C T het . 15 +intergenic LINC00221(dist=218476),MIR5195(dist=89095) chr14 107170005 107170005 T C het . 21 +intergenic LINC00221(dist=218526),MIR5195(dist=89045) chr14 107170055 107170055 G A het . 27 +intergenic LINC00221(dist=218533),MIR5195(dist=89038) chr14 107170062 107170062 A G het . 26 +intergenic LINC00221(dist=218548),MIR5195(dist=89023) chr14 107170077 107170077 C T het . 24 +intergenic MIR5195(dist=22037),NONE(dist=NONE) chr14 107281251 107281251 - C het . 6 +intergenic NONE(dist=NONE),CHEK2P2(dist=481460) chr15 20006537 20006537 A G het . 2 +intergenic NONE(dist=NONE),CHEK2P2(dist=481447) chr15 20006550 20006550 G A het . 2 +intergenic NONE(dist=NONE),CHEK2P2(dist=449709) chr15 20038288 20038288 C T het . 2 +intergenic NONE(dist=NONE),CHEK2P2(dist=449691) chr15 20038306 20038306 A G het . 2 +intergenic NONE(dist=NONE),CHEK2P2(dist=416250) chr15 20071747 20071747 T C het . 2 +intergenic NONE(dist=NONE),CHEK2P2(dist=416230) chr15 20071767 20071767 T C het . 2 +intergenic NONE(dist=NONE),CHEK2P2(dist=380118) chr15 20107879 20107879 G A het . 2 +intergenic NONE(dist=NONE),CHEK2P2(dist=380116) chr15 20107881 20107881 A G het . 2 +intergenic NONE(dist=NONE),CHEK2P2(dist=380104) chr15 20107893 20107893 A T het . 2 +intergenic NONE(dist=NONE),CHEK2P2(dist=41885) chr15 20446112 20446112 C T het . 24 +intergenic NONE(dist=NONE),CHEK2P2(dist=20993) chr15 20467004 20467004 G A het . 12 +intergenic NONE(dist=NONE),CHEK2P2(dist=10708) chr15 20477289 20477289 C T het . 2 +ncRNA_intronic CHEK2P2 chr15 20488683 20488683 C A het . 12 +intergenic CHEK2P2(dist=3321),HERC2P3(dist=113518) chr15 20500132 20500132 C G het . 2 +intergenic CHEK2P2(dist=3808),HERC2P3(dist=113031) chr15 20500619 20500619 G A het . 7 +intergenic CHEK2P2(dist=3816),HERC2P3(dist=113023) chr15 20500627 20500627 A C het . 7 +intergenic CHEK2P2(dist=17795),HERC2P3(dist=99044) chr15 20514606 20514606 A T het . 2 +intergenic CHEK2P2(dist=19470),HERC2P3(dist=97369) chr15 20516281 20516281 G A het . 7 +intergenic CHEK2P2(dist=64146),HERC2P3(dist=52693) chr15 20560957 20560957 C G het . 2 +intergenic CHEK2P2(dist=64621),HERC2P3(dist=52218) chr15 20561432 20561432 C T het . 1 +intergenic CHEK2P2(dist=64639),HERC2P3(dist=52200) chr15 20561450 20561450 G C het . 2 +intergenic CHEK2P2(dist=66503),HERC2P3(dist=50336) chr15 20563314 20563314 G A het . 10 +intergenic CHEK2P2(dist=67764),HERC2P3(dist=49075) chr15 20564575 20564575 C A het . 3 +intergenic CHEK2P2(dist=89808),HERC2P3(dist=27031) chr15 20586619 20586619 G C het . 2 +intergenic GOLGA8CP(dist=66865),NBEAP1(dist=26906) chr15 20847891 20847891 C T het . 2 +intergenic GOLGA8CP(dist=81447),NBEAP1(dist=12324) chr15 20862473 20862473 A G het . 3 +intergenic GOLGA8CP(dist=81474),NBEAP1(dist=12297) chr15 20862500 20862500 G A het . 2 +intergenic GOLGA8CP(dist=81486),NBEAP1(dist=12285) chr15 20862512 20862512 T G het . 2 +intergenic GOLGA8CP(dist=81775),NBEAP1(dist=11996) chr15 20862801 20862801 T C het . 11 +intergenic GOLGA8CP(dist=82394),NBEAP1(dist=11377) chr15 20863420 20863420 T - het . 1 +intergenic GOLGA8CP(dist=82401),NBEAP1(dist=11370) chr15 20863427 20863427 T A het . 1 +intergenic GOLGA8CP(dist=83091),NBEAP1(dist=10680) chr15 20864117 20864117 - AAG het . 3 +ncRNA_intronic NBEAP1 chr15 20876828 20876828 A C het . 8 +ncRNA_intronic NBEAP1 chr15 20876850 20876850 T C het . 6 +intergenic FAM30C(dist=646442),LOC646214(dist=30907) chr15 21901607 21901607 T C het . 3 +intergenic FAM30C(dist=647991),LOC646214(dist=29358) chr15 21903156 21903156 T C het . 6 +intergenic FAM30C(dist=648312),LOC646214(dist=29037) chr15 21903477 21903477 G T het . 4 +ncRNA_exonic LOC646214 chr15 21936770 21936770 T C het . 38 +ncRNA_exonic LOC646214 chr15 21936801 21936801 T C het . 36 +ncRNA_intronic LINC02203,LOC101927079 chr15 22298495 22298495 G C het . 16 +ncRNA_intronic LINC02203,LOC101927079 chr15 22302892 22302892 A G het . 3 +ncRNA_intronic LINC02203,LOC101927079 chr15 22323936 22323939 TTAC - het . 2 +ncRNA_intronic LINC02203,LOC101927079 chr15 22332331 22332331 A G het . 8 +ncRNA_intronic LINC02203,LOC101927079 chr15 22333102 22333102 C T het . 26 +ncRNA_intronic LINC02203,LOC101927079 chr15 22347976 22347979 AAAC - het . 2 +intergenic OR4N4(dist=7834),OR4N3P(dist=21813) chr15 22391649 22391649 A T het . 2 +intergenic OR4N4(dist=23171),OR4N3P(dist=6476) chr15 22406986 22406986 C T het . 4 +intergenic OR4N4(dist=23189),OR4N3P(dist=6458) chr15 22407004 22407004 T C het . 3 +intergenic OR4N4(dist=27588),OR4N3P(dist=2059) chr15 22411403 22411403 G C het . 5 +intergenic OR4N3P(dist=17007),IGHV1OR15-1(dist=16838) chr15 22431402 22431402 G A het . 3 +intergenic LOC642131(dist=22360),MIR1268A(dist=24322) chr15 22488907 22488907 C G het . 4 +intergenic LOC642131(dist=29806),MIR1268A(dist=16876) chr15 22496353 22496353 - T het . 1 +intergenic LOC642131(dist=29815),MIR1268A(dist=16867) chr15 22496362 22496362 A T het . 2 +intergenic LOC642131(dist=37219),MIR1268A(dist=9463) chr15 22503766 22503766 A G het . 2 +intergenic REREP3(dist=11450),MIR4509-1(dist=92867) chr15 22582281 22582281 C T het . 4 +intronic TUBGCP5 chr15 22872992 22872992 G T het . 4 +intronic CYFIP1 chr15 22915741 22915741 G C het . 2 +intronic CYFIP1 chr15 22928537 22928537 G C het . 4 +intronic CYFIP1 chr15 22933528 22933528 G A het . 4 +intronic CYFIP1 chr15 22955308 22955308 C - het . 4 +intronic CYFIP1 chr15 23001691 23001691 A G het . 2 +intronic CYFIP1 chr15 23002729 23002729 - A het . 2 +UTR3 NIPA2(NM_030922:c.*5_*2delAAAG,NM_001184889:c.*5_*2delAAAG,NM_001184888:c.*5_*2delAAAG,NM_001008894:c.*5_*2delAAAG,NM_001008892:c.*5_*2delAAAG,NM_001008860:c.*5_*2delAAAG) chr15 23006216 23006219 CTTT - het . 6 +intronic NIPA2 chr15 23009970 23009970 A - het . 2 +intergenic NIPA1(dist=2393),LOC283683(dist=5095) chr15 23089236 23089236 C T het . 2 +ncRNA_exonic WHAMMP3 chr15 23191502 23191502 C T het . 5 +ncRNA_exonic WHAMMP3 chr15 23191509 23191509 T C het . 5 +intronic GOLGA8S chr15 23606281 23606281 - TTTTC het . 7 +exonic GOLGA6L2 chr15 23685475 23685475 C T het . 9 +exonic GOLGA6L2 chr15 23685598 23685639 GCATCTTCTCTTCCTGCTCCCACATCTTCTCCTCCTGCTCCC - het . 18 +exonic GOLGA6L2 chr15 23685728 23685728 C G het . 59 +exonic GOLGA6L2 chr15 23685749 23685751 CTC - het . 59 +exonic GOLGA6L2 chr15 23685922 23685922 - CCGCATCTTCTCCTCCTGCTT het . 26 +exonic GOLGA6L2 chr15 23686598 23686598 T C het . 22 +exonic GOLGA6L2 chr15 23686673 23686673 G A het . 17 +intronic GOLGA6L2 chr15 23687440 23687440 C A het . 2 +intergenic GOLGA6L2(dist=6729),MIR4508(dist=108090) chr15 23699119 23699119 T C het . 2 +intergenic GOLGA6L2(dist=101202),MIR4508(dist=13617) chr15 23793592 23793592 C T het . 2 +intergenic MKRN3(dist=73593),MAGEL2(dist=1937) chr15 23886759 23886759 C A het . 3 +intergenic NDN(dist=9364),PWRN4(dist=278480) chr15 23941814 23941814 T C het . 3 +intergenic NDN(dist=115929),PWRN4(dist=171915) chr15 24048379 24048379 A G het . 3 +intergenic NDN(dist=126035),PWRN4(dist=161809) chr15 24058485 24058485 A T het . 2 +intergenic NDN(dist=220919),PWRN4(dist=66925) chr15 24153369 24153369 C G het . 2 +ncRNA_intronic PWRN4 chr15 24225551 24225551 G A het . 2 +ncRNA_intronic PWRN4 chr15 24225576 24225576 C T het . 2 +intergenic PWRN2(dist=207581),PWRN3(dist=63598) chr15 24622676 24622676 - AGAGAA het . 3 +ncRNA_intronic SNHG14 chr15 25079015 25079015 A T het . 3 +ncRNA_intronic SNHG14 chr15 25138846 25138846 - A het . 4 +ncRNA_intronic SNHG14 chr15 25223241 25223243 ATT - het . 10 +ncRNA_intronic SNHG14 chr15 25225057 25225057 C A het . 8 +ncRNA_intronic SNHG14 chr15 25310440 25310440 A G het . 2 +ncRNA_intronic SNHG14 chr15 25313074 25313074 C T het . 7 +ncRNA_exonic SNORD116-10 chr15 25319287 25319287 - T het . 3 +ncRNA_exonic SNHG14 chr15 25415809 25415809 C T het . 5 +ncRNA_exonic SNORD115-35 chr15 25479460 25479460 G A het . 25 +exonic UBE3A chr15 25620826 25620826 C A het . 21 +ncRNA_intronic SNHG14 chr15 25643337 25643337 - AC het . 2 +intergenic UBE3A(dist=36831),ATP10A(dist=202826) chr15 25721034 25721034 A C het . 6 +intergenic UBE3A(dist=126821),ATP10A(dist=112836) chr15 25811024 25811024 G C het . 2 +intergenic UBE3A(dist=126827),ATP10A(dist=112829) chr15 25811030 25811031 TC AA het . 2 +intergenic UBE3A(dist=161107),ATP10A(dist=78550) chr15 25845310 25845310 A G het . 1 +intergenic UBE3A(dist=182613),ATP10A(dist=57044) chr15 25866816 25866816 G C het . 2 +intergenic UBE3A(dist=222757),ATP10A(dist=16900) chr15 25906960 25906960 G A het . 2 +intronic ATP10A chr15 25953068 25953068 G A het . 4 +intronic ATP10A chr15 25968513 25968513 A - het . 2 +intronic ATP10A chr15 25968528 25968528 T C het . 2 +intronic ATP10A chr15 26075511 26075511 A G het . 2 +intergenic ATP10A(dist=2123),LINC02346(dist=37035) chr15 26110472 26110472 T C het . 2 +ncRNA_intronic LINC02346 chr15 26173243 26173243 - T het . 16 +intergenic LINC00929(dist=144938),GABRB3(dist=265572) chr15 26523122 26523122 T C het . 1 +intronic GABRB3 chr15 26871586 26871586 G A het . 2 +intronic GABRB3 chr15 26871776 26871776 C T het . 2 +intronic GABRB3 chr15 27018023 27018023 A C het . 9 +intergenic GABRB3(dist=42630),GABRA5(dist=50301) chr15 27061565 27061565 A - het . 13 +intronic GABRA5 chr15 27152580 27152580 C T het . 1 +intronic GABRA5 chr15 27166677 27166677 T A het . 1 +intronic GABRG3 chr15 27385301 27385301 C G het . 3 +intronic GABRG3 chr15 27390985 27390985 G A het . 2 +intronic GABRG3 chr15 27512209 27512209 C T het . 2 +intronic GABRG3 chr15 27516741 27516744 AGTC - het . 7 +intronic GABRG3 chr15 27595081 27595081 - T het . 2 +intergenic GABRG3(dist=98260),OCA2(dist=123388) chr15 27876633 27876633 G T het . 2 +intronic OCA2 chr15 28045515 28045515 T A het . 3 +intronic OCA2 chr15 28045534 28045534 A G het . 3 +intronic OCA2 chr15 28045537 28045537 G A het . 3 +intronic OCA2 chr15 28045542 28045542 C A het . 2 +intronic OCA2 chr15 28073481 28073481 G A het . 2 +intronic OCA2 chr15 28171608 28171608 - T het . 2 +intronic OCA2 chr15 28201001 28201001 T C het . 1 +intronic HERC2 chr15 28361764 28361764 C T het . 2 +intronic HERC2 chr15 28478780 28478780 C T het . 27 +intronic HERC2 chr15 28510895 28510895 G A het . 5 +intronic HERC2 chr15 28517969 28517969 A G het . 6 +ncRNA_intronic PDCD6IPP2 chr15 29100990 29100990 A - het . 4 +intronic APBA2 chr15 29220345 29220345 - A het . 2 +intronic APBA2 chr15 29405523 29405523 A G het . 1 +intronic FAM189A1 chr15 29418745 29418745 G T het . 3 +intronic FAM189A1 chr15 29590671 29590671 G T het . 3 +intergenic FAM189A1(dist=27956),LOC100130111(dist=76256) chr15 29890883 29890883 A C het . 2 +exonic TJP1 chr15 29993893 29993893 C A het . 28 +intronic TJP1 chr15 30001957 30001957 G A het . 1 +intronic TJP1 chr15 30023284 30023284 T C het . 2 +intronic TJP1 chr15 30052392 30052392 C A het . 9 +intronic TJP1 chr15 30062883 30062884 AA - het . 2 +intronic TJP1 chr15 30218586 30218586 A G het . 3 +ncRNA_intronic LOC100288637 chr15 30966896 30966896 T A het . 3 +intergenic LOC100288637(dist=19144),HERC2P10(dist=25886) chr15 31084353 31084353 T C het . 4 +intergenic LOC100288637(dist=19151),HERC2P10(dist=25879) chr15 31084360 31084360 A G het . 4 +intergenic LOC100288637(dist=27809),HERC2P10(dist=17220) chr15 31093018 31093019 CC GT het . 7 +intergenic LOC100288637(dist=27814),HERC2P10(dist=17216) chr15 31093023 31093023 A G het . 6 +intergenic LOC100288637(dist=42224),HERC2P10(dist=2806) chr15 31107433 31107433 C T het . 3 +ncRNA_exonic HERC2P10 chr15 31114912 31114912 T C het . 4 +intergenic HERC2P10(dist=9225),FAN1(dist=66844) chr15 31129211 31129211 C G het . 2 +intronic MTMR10 chr15 31245880 31245880 C T het . 13 +intronic MTMR10 chr15 31246840 31246840 A G het . 4 +intronic TRPM1 chr15 31307753 31307753 G A het . 2 +exonic TRPM1 chr15 31323311 31323311 C A het . 27 +intronic TRPM1 chr15 31325441 31325441 C T het . 3 +intronic TRPM1 chr15 31333960 31333960 A G het . 2 +intronic TRPM1 chr15 31340191 31340191 C A het . 28 +intronic KLF13 chr15 31696717 31696717 A C het . 3 +intronic OTUD7A chr15 32062176 32062176 A G het . 1 +intergenic OTUD7A(dist=78534),CHRNA7(dist=81277) chr15 32241409 32241409 - TA het . 2 +intergenic OTUD7A(dist=131861),CHRNA7(dist=27950) chr15 32294736 32294736 C T het . 2 +intergenic OTUD7A(dist=147935),CHRNA7(dist=11876) chr15 32310810 32310810 A G het . 3 +intronic CHRNA7 chr15 32393663 32393663 C A het . 1 +intronic GREM1 chr15 33022582 33022582 A T het . 1 +intronic FMN1 chr15 33140956 33140956 C T het . 1 +intronic FMN1 chr15 33167025 33167025 T G het . 1 +intronic FMN1 chr15 33180571 33180571 A - het . 15 +intronic FMN1 chr15 33202602 33202602 A G het . 7 +intronic FMN1 chr15 33226820 33226820 G A het . 2 +exonic FMN1 chr15 33261232 33261232 G A het . 3 +intronic FMN1 chr15 33350297 33350297 G A het . 1 +intronic FMN1 chr15 33357035 33357035 A C het . 5 +intergenic FMN1(dist=31565),TMCO5B(dist=10178) chr15 33518499 33518499 C T het . 1 +intronic RYR3 chr15 33654615 33654617 CAG - het . 2 +intronic RYR3 chr15 33680134 33680134 A G het . 2 +exonic RYR3 chr15 33872177 33872177 C T het . 2 +intronic RYR3 chr15 33876449 33876449 G A het . 2 +intronic RYR3 chr15 33915964 33915964 - T het . 8 +intronic RYR3 chr15 33990250 33990250 G A het . 7 +intronic RYR3 chr15 34029775 34029775 T C het . 1 +intronic RYR3 chr15 34049814 34049814 A C het . 12 +intronic RYR3 chr15 34103712 34103712 A - het . 5 +intronic RYR3 chr15 34103822 34103822 - TACAAAGAGGA het . 6 +intronic RYR3 chr15 34113455 34113455 T - het . 17 +intronic RYR3 chr15 34117948 34117948 C - het . 8 +intronic RYR3 chr15 34117954 34117954 A G het . 8 +intronic RYR3 chr15 34146374 34146374 G A het . 1 +intronic RYR3 chr15 34146783 34146783 G A het . 1 +intronic AVEN chr15 34256726 34256726 C A het . 2 +intronic EMC7 chr15 34378341 34378341 C G het . 10 +intergenic PGBD4(dist=29021),KATNBL1(dist=7263) chr15 34425612 34425612 A G het . 2 +intergenic PGBD4(dist=29078),KATNBL1(dist=7206) chr15 34425669 34425669 A - het . 2 +UTR3 KATNBL1(NM_024713:c.*72delA) chr15 34434468 34434468 T - het . 4 +intronic SLC12A6 chr15 34533654 34533654 C A het . 18 +intronic SLC12A6 chr15 34542752 34542752 C A het . 17 +intronic SLC12A6 chr15 34543298 34543298 - A het . 21 +intronic SLC12A6 chr15 34544190 34544190 T G het . 3 +intronic SLC12A6 chr15 34546434 34546434 T C het . 11 +intronic SLC12A6 chr15 34546451 34546451 G C het . 11 +exonic NUTM1 chr15 34649287 34649287 C A het . 22 +intronic LPCAT4 chr15 34654972 34654972 G A het . 19 +intergenic GOLGA8A(dist=99583),GOLGA8B(dist=35900) chr15 34781584 34781584 C A het . 21 +intergenic GOLGA8A(dist=100791),GOLGA8B(dist=34692) chr15 34782792 34782792 C A het . 5 +intergenic LINC02252(dist=12523),GJD2(dist=84148) chr15 34960488 34960494 ACAAACA - het . 2 +intergenic LOC101928174(dist=36708),AQR(dist=6720) chr15 35141832 35141832 G C het . 6 +intronic AQR chr15 35230924 35230924 A G het . 16 +intronic AQR chr15 35230934 35230934 - TAGT het . 18 +intronic AQR chr15 35231166 35231166 C T het . 3 +intronic AQR chr15 35231184 35231184 A G het . 2 +intergenic NANOGP8(dist=7729),ANP32AP1(dist=144189) chr15 35385338 35385338 T C het . 10 +intergenic NANOGP8(dist=36579),ANP32AP1(dist=115339) chr15 35414188 35414188 C T het . 18 +ncRNA_exonic ANP32AP1 chr15 35530030 35530030 G T het . 32 +intronic DPH6 chr15 35693284 35693284 A G het . 26 +intronic DPH6 chr15 35826859 35826859 T A het . 4 +ncRNA_intronic DPH6-DT chr15 36086287 36086287 G A het . 2 +intergenic MIR4510(dist=128662),C15orf41(dist=524018) chr15 36347786 36347786 A G het . 3 +intergenic MIR4510(dist=234514),C15orf41(dist=418166) chr15 36453638 36453638 A G het . 6 +intergenic MIR4510(dist=472677),C15orf41(dist=180003) chr15 36691801 36691801 A G het . 4 +intergenic MIR4510(dist=500913),C15orf41(dist=151767) chr15 36720037 36720037 T C het . 1 +intronic C15orf41 chr15 36881713 36881713 T - het . 3 +intronic C15orf41 chr15 36896692 36896692 G A het . 1 +intronic C15orf41 chr15 36909797 36909797 C A het . 27 +intronic C15orf41 chr15 36943375 36943375 C G het . 1 +intronic C15orf41 chr15 37026601 37026601 T - het . 16 +intronic C15orf41 chr15 37026612 37026612 A T het . 17 +ncRNA_intronic LOC145845 chr15 37163043 37163043 A G het . 2 +ncRNA_intronic LOC145845 chr15 37163051 37163051 A G het . 1 +intronic MEIS2 chr15 37187197 37187197 - T het . 4 +intronic MEIS2 chr15 37190395 37190395 G A het . 2 +intronic MEIS2 chr15 37242441 37242441 A - het . 7 +intronic MEIS2 chr15 37249022 37249022 A C het . 1 +UTR5 MEIS2(NM_170676:c.-56C>A,NM_170677:c.-56C>A,NM_001220482:c.-56C>A,NM_170675:c.-56C>A,NM_170674:c.-56C>A) chr15 37391723 37391723 G T het . 6 +intergenic MEIS2(dist=111783),TMCO5A(dist=721525) chr15 37505283 37505283 G A het . 2 +intergenic MEIS2(dist=289002),TMCO5A(dist=544306) chr15 37682502 37682502 C G het . 1 +intergenic MEIS2(dist=309793),TMCO5A(dist=523515) chr15 37703293 37703293 T C het . 2 +intronic SPRED1 chr15 38641773 38641773 - TT het . 21 +intronic SPRED1 chr15 38641774 38641774 - AAT het . 21 +intronic SPRED1 chr15 38641777 38641777 - TA het . 19 +intronic SPRED1 chr15 38642971 38642971 G C het . 2 +UTR3 SPRED1(NM_152594:c.*40C>T) chr15 38643905 38643905 C T het . 14 +intergenic SPRED1(dist=91005),FAM98B(dist=5873) chr15 38740455 38740455 T G het . 2 +intergenic SPRED1(dist=91008),FAM98B(dist=5870) chr15 38740458 38740458 T G het . 2 +intronic RASGRP1 chr15 38804866 38804866 C A het . 4 +intergenic C15orf53(dist=26867),C15orf54(dist=523764) chr15 39019106 39019106 A C het . 2 +intergenic C15orf53(dist=26875),C15orf54(dist=523756) chr15 39019114 39019114 C A het . 2 +intergenic C15orf53(dist=228886),C15orf54(dist=321745) chr15 39221125 39221125 A C het . 2 +intergenic C15orf53(dist=268596),C15orf54(dist=282035) chr15 39260835 39260835 C T het . 2 +intergenic C15orf53(dist=359698),C15orf54(dist=190933) chr15 39351937 39351937 A T het . 1 +intergenic C15orf53(dist=375143),C15orf54(dist=175488) chr15 39367382 39367382 G A het . 2 +intergenic C15orf53(dist=375147),C15orf54(dist=175484) chr15 39367386 39367386 C A het . 2 +ncRNA_exonic C15orf54 chr15 39545268 39545268 G A het . 2 +intergenic C15orf54(dist=94915),THBS1(dist=231322) chr15 39641958 39641958 G A het . 1 +intergenic C15orf54(dist=273053),THBS1(dist=53184) chr15 39820096 39820096 C T het . 2 +exonic FSIP1 chr15 39910063 39910063 C T het . 42 +intronic FSIP1 chr15 39979338 39979338 C T het . 4 +intronic FSIP1 chr15 40030440 40030440 G A het . 14 +intronic FSIP1 chr15 40030458 40030458 A - het . 12 +intronic FSIP1 chr15 40062825 40062825 C A het . 4 +intronic FSIP1 chr15 40062838 40062838 G A het . 5 +intronic FSIP1 chr15 40062855 40062855 C T het . 9 +intronic EIF2AK4 chr15 40235231 40235231 T - het . 2 +intronic EIF2AK4 chr15 40243559 40243559 C T het . 2 +intronic EIF2AK4 chr15 40259504 40259504 G A het . 5 +intronic EIF2AK4 chr15 40259520 40259520 T - het . 4 +intronic EIF2AK4 chr15 40280465 40280465 A G het . 8 +intronic EIF2AK4 chr15 40282625 40282625 T C het . 10 +intronic EIF2AK4 chr15 40322552 40322552 G T het . 12 +exonic SRP14 chr15 40328575 40328575 G C het . 25 +intergenic SRP14-AS1(dist=12347),BMF(dist=8034) chr15 40372057 40372057 G A het . 4 +intronic BMF chr15 40384132 40384132 G A het . 9 +intronic BUB1B chr15 40458541 40458541 T - het . 16 +intronic BUB1B chr15 40491952 40491952 A G het . 31 +intronic BUB1B chr15 40495067 40495067 C A het . 7 +intronic BUB1B chr15 40505737 40505737 T - het . 20 +intronic BUB1B chr15 40509600 40509600 A G het . 21 +intronic PLCB2 chr15 40583093 40583093 A G het . 3 +intergenic CHST14(dist=52123),CCDC32(dist=6060) chr15 40817480 40817480 G A het . 2 +intronic CCDC32 chr15 40841486 40841486 G A het . 1 +intronic CCDC32 chr15 40849194 40849194 - AA het . 3 +intronic CCDC32 chr15 40849680 40849680 C G het . 7 +intronic KNL1 chr15 40895298 40895298 T A het . 6 +intronic KNL1 chr15 40931015 40931015 T - het . 3 +intronic KNL1 chr15 40939448 40939448 G A het . 2 +intergenic KNL1(dist=11499),RAD51-AS1(dist=19573) chr15 40966380 40966380 C T het . 2 +intergenic KNL1(dist=16954),RAD51-AS1(dist=14118) chr15 40971835 40971835 T A het . 2 +intronic RMDN3 chr15 41045633 41045633 C T het . 3 +exonic VPS18 chr15 41191781 41191781 A C het . 20 +intronic INO80 chr15 41328058 41328058 G A het . 3 +intronic INO80 chr15 41371789 41371789 C A het . 3 +intronic INO80 chr15 41405116 41405118 TTG - het . 4 +intergenic INO80(dist=46605),EXD1(dist=19848) chr15 41455083 41455083 A G het . 2 +intergenic INO80(dist=47896),EXD1(dist=18557) chr15 41456374 41456374 A T het . 22 +intronic EXD1 chr15 41507883 41507883 - A het . 5 +intronic EXD1 chr15 41518549 41518549 A G het . 5 +UTR3 CHP1(NM_007236:c.*1115A>G) chr15 41572702 41572702 A G het . 2 +intronic NUSAP1 chr15 41663896 41663896 A C het . 5 +downstream NDUFAF1(dist=55) chr15 41679492 41679492 G A het . 11 +intronic RTF1 chr15 41750097 41750097 C - het . 3 +intronic TYRO3 chr15 41857216 41857216 G A het . 9 +intronic TYRO3 chr15 41865488 41865488 C T het . 4 +exonic TYRO3 chr15 41865525 41865525 G T het . 6 +intronic MGA chr15 41991037 41991037 T - het . 6 +intronic JMJD7-PLA2G4B,PLA2G4B chr15 42134523 42134523 C T het . 3 +exonic SPTBN5 chr15 42145586 42145586 G A het . 6 +exonic SPTBN5 chr15 42145936 42145936 G C het . 10 +ncRNA_intronic LOC105370792 chr15 42185439 42185439 C G het . 7 +ncRNA_intronic EHD4-AS1 chr15 42217251 42217251 G C het . 2 +intergenic PLA2G4E(dist=2145),PLA2G4D(dist=14835) chr15 42345046 42345046 T C het . 2 +intronic TMEM87A chr15 42503954 42503954 A - het . 18 +intronic TMEM87A chr15 42531768 42531768 C T het . 4 +intronic TMEM87A chr15 42564369 42564370 CA TG het . 22 +intronic GANC chr15 42570105 42570105 G C het . 1 +intronic GANC chr15 42570433 42570433 C T het . 5 +intronic GANC chr15 42606161 42606161 G A het . 3 +intronic GANC chr15 42608677 42608677 A G het . 2 +intronic GANC chr15 42608712 42608712 G A het . 2 +intronic ZNF106 chr15 42770299 42770299 G A het . 3 +intronic HAUS2 chr15 42855311 42855311 A - het . 3 +intronic STARD9 chr15 42873866 42873866 - CAG het . 4 +intronic STARD9 chr15 42974297 42974297 C A het . 5 +intronic TTBK2 chr15 43075943 43075943 A - het . 13 +intronic TTBK2 chr15 43115937 43115937 T - het . 3 +intronic TTBK2 chr15 43122389 43122390 TT - het . 10 +intronic UBR1 chr15 43262881 43262881 C A het . 17 +intronic UBR1 chr15 43262925 43262927 TTT - het . 16 +intronic UBR1 chr15 43324942 43324942 C T het . 5 +intronic UBR1 chr15 43351787 43351787 A - het . 7 +intronic UBR1 chr15 43361753 43361753 G T het . 2 +intergenic UBR1(dist=10518),TMEM62(dist=16509) chr15 43408804 43408804 T C het . 7 +intronic CCNDBP1 chr15 43478113 43478113 G C het . 10 +exonic EPB42 chr15 43508651 43508651 G T het . 23 +UTR3 TGM5(NM_004245:c.*93G>T,NM_201631:c.*93G>T) chr15 43525296 43525296 C A het . 13 +intronic TGM7 chr15 43568999 43568999 C T het . 3 +exonic TGM7 chr15 43579600 43579600 G A het . 14 +intronic TUBGCP4 chr15 43672392 43672392 T G het . 8 +exonic TUBGCP4 chr15 43692396 43692396 G C het . 16 +intronic TP53BP1 chr15 43787732 43787732 A C het . 2 +ncRNA_intronic PPIP5K1P1-CATSPER2 chr15 43935451 43935451 T G het . 3 +ncRNA_intronic PPIP5K1P1-CATSPER2 chr15 43941125 43941125 G C het . 2 +intronic PDIA3 chr15 44057579 44057579 A - het . 9 +intronic PDIA3 chr15 44062874 44062874 A T het . 12 +ncRNA_intronic SERF2-C15ORF63 chr15 44084705 44084705 G A het . 8 +intronic WDR76 chr15 44134491 44134491 C A het . 9 +intronic FRMD5 chr15 44424960 44424960 - TATT het . 2 +intergenic FRMD5(dist=27809),CASC4(dist=65608) chr15 44515301 44515301 C G het . 3 +intronic CTDSPL2 chr15 44737824 44737824 A C het . 2 +intronic CTDSPL2 chr15 44737831 44737831 T G het . 3 +intronic CTDSPL2 chr15 44737842 44737842 T - het . 3 +intronic CTDSPL2 chr15 44776397 44776397 - T het . 12 +intronic CTDSPL2 chr15 44811330 44811330 T - het . 7 +exonic EIF3J chr15 44829395 44829397 GGC - het . 11 +intronic SPG11 chr15 44859548 44859549 AA - het . 3 +intronic SPG11 chr15 44865077 44865077 C A het . 13 +intronic SPG11 chr15 44896398 44896398 A - het . 17 +intronic SPG11 chr15 44903285 44903285 C A het . 3 +intronic SPG11 chr15 44918459 44918459 C A het . 15 +exonic B2M chr15 45007823 45007823 C A het . 33 +intergenic LOC100419583(dist=1994),TRIM69(dist=1517) chr15 45027043 45027043 A - het . 3 +intronic TRIM69 chr15 45054952 45054952 A G het . 2 +exonic TRIM69 chr15 45059499 45059499 C A het . 21 +ncRNA_exonic SORD2P chr15 45131598 45131598 G A het . 13 +intergenic SORD2P(dist=54087),TERB2(dist=17921) chr15 45230979 45230979 A T het . 2 +intronic DUOX2 chr15 45399467 45399467 A G het . 7 +intronic DUOXA2 chr15 45409013 45409013 G A het . 4 +exonic DUOXA1 chr15 45413302 45413302 A C het . 6 +exonic DUOXA1 chr15 45413307 45413307 A C het . 7 +intronic DUOX1 chr15 45434987 45434987 G A het . 1 +intronic DUOX1 chr15 45434991 45434991 G A het . 1 +intronic DUOX1 chr15 45446085 45446085 A - het . 3 +intergenic SHF(dist=27168),LOC101928414(dist=23238) chr15 45520541 45520541 - TTGTTTTG het . 4 +intergenic LOC101928414(dist=14349),GATM(dist=67553) chr15 45585769 45585769 T C het . 2 +intronic GATM chr15 45661438 45661438 G A het . 13 +intergenic C15orf48(dist=14977),SLC30A4(dist=31187) chr15 45740624 45740624 A G het . 1 +intronic SQOR chr15 45968238 45968238 A - het . 7 +exonic SQOR chr15 45981317 45981317 G A het . 18 +ncRNA_intronic LOC105370802 chr15 46047384 46047384 C G het . 1 +ncRNA_intronic LOC105370802 chr15 46065424 46065424 G C het . 1 +ncRNA_intronic LOC105370802 chr15 46108484 46108484 T A het . 2 +intergenic LOC105370802(dist=232114),SEMA6D(dist=1021022) chr15 46455381 46455381 G A het . 2 +intergenic LOC105370802(dist=306459),SEMA6D(dist=946677) chr15 46529726 46529726 T A het . 2 +intergenic LOC105370802(dist=408174),SEMA6D(dist=844962) chr15 46631441 46631441 G - het . 4 +intergenic LOC105370802(dist=408176),SEMA6D(dist=844960) chr15 46631443 46631443 G T het . 4 +intergenic LOC105370802(dist=561585),SEMA6D(dist=691551) chr15 46784852 46784852 G A het . 1 +intergenic LOC105370802(dist=811266),SEMA6D(dist=441870) chr15 47034533 47034533 G C het . 2 +intronic SEMA6D chr15 47924289 47924289 T C het . 1 +intronic SEMA6D chr15 48059138 48059138 T - het . 12 +intronic SEMA6D chr15 48062629 48062629 C G het . 2 +intergenic SEMA6D(dist=5215),LINC01491(dist=23946) chr15 48071635 48071635 T A het . 1 +intronic MYEF2 chr15 48470226 48470226 A C het . 15 +intronic SLC12A1 chr15 48562013 48562013 C A het . 11 +intergenic SLC12A1(dist=7085),DUT(dist=19932) chr15 48603360 48603360 G A het . 2 +intronic FBN1 chr15 48713996 48713996 G T het . 17 +intronic FBN1 chr15 48733845 48733845 C A het . 23 +intronic FBN1 chr15 48737126 48737126 - AA het . 13 +intronic FBN1 chr15 48740912 48740912 C A het . 26 +intergenic FBN1(dist=3559),CEP152(dist=88591) chr15 48941544 48941544 C T het . 1 +intergenic FBN1(dist=11725),CEP152(dist=80425) chr15 48949710 48949710 C T het . 2 +intergenic FBN1(dist=41695),CEP152(dist=50453) chr15 48979680 48979682 AGA - het . 2 +intergenic FBN1(dist=47392),CEP152(dist=44758) chr15 48985377 48985377 T A het . 2 +intergenic FBN1(dist=71421),CEP152(dist=20729) chr15 49009406 49009406 T - het . 3 +intronic CEP152 chr15 49032699 49032699 C T het . 3 +splicing CEP152(NM_014985:exon20:c.3345+1G>T,NM_001194998:exon20:c.3345+1G>T) chr15 49048099 49048099 C A het . 43 +intronic CEP152 chr15 49083325 49083325 C A het . 18 +intronic CEP152 chr15 49097734 49097734 T C het . 8 +intronic SHC4 chr15 49199392 49199392 G A het . 2 +intronic SECISBP2L chr15 49288880 49288880 - AC het . 8 +intronic SECISBP2L chr15 49319807 49319807 A T het . 5 +intronic COPS2 chr15 49423145 49423145 A G het . 4 +intronic COPS2 chr15 49429189 49429189 - A het . 15 +intronic GALK2 chr15 49462672 49462672 T G het . 3 +intronic GALK2 chr15 49485193 49485193 C T het . 1 +intronic GALK2 chr15 49557933 49557933 G T het . 2 +intronic GALK2 chr15 49580156 49580156 - TCTC het . 3 +intronic GALK2 chr15 49611152 49611152 T - het . 14 +UTR3 GALK2(NM_001001556:c.*561C>A,NM_001352048:c.*26C>A,NM_001352047:c.*26C>A,NM_002044:c.*561C>A,NM_001289031:c.*561C>A,NM_001289030:c.*561C>A) chr15 49620917 49620917 C A het . 13 +intronic FAM227B,FGF7 chr15 49775216 49775216 G C het . 11 +intergenic DTWD1(dist=153987),ATP8B4(dist=59115) chr15 50091320 50091320 T G het . 2 +intronic ATP8B4 chr15 50189448 50189448 C A het . 25 +intronic ATP8B4 chr15 50302864 50302864 T C het . 5 +intronic ATP8B4 chr15 50302876 50302876 A C het . 7 +intronic ATP8B4 chr15 50312468 50312468 T G het . 1 +intergenic ATP8B4(dist=9104),SLC27A2(dist=53870) chr15 50420523 50420523 G C het . 1 +exonic SLC27A2 chr15 50515337 50515337 G C het . 12 +intronic HDC chr15 50546934 50546937 TTTC - het . 14 +intronic GABPB1 chr15 50578067 50578067 C A het . 4 +intergenic MIR4712(dist=43129),USP8(dist=20838) chr15 50695736 50695736 T C het . 2 +intronic TRPM7 chr15 50950203 50950203 T - het . 6 +intronic TRPM7 chr15 50955331 50955331 T - het . 13 +intronic TRPM7 chr15 50978649 50978649 A C het . 13 +intronic SPPL2A chr15 51040798 51040798 T C het . 3 +intronic SPPL2A chr15 51047545 51047545 C T het . 2 +intronic SPPL2A chr15 51047555 51047555 T C het . 2 +intergenic SPPL2A(dist=124159),AP4E1(dist=18800) chr15 51182069 51182069 A C het . 2 +ncRNA_exonic DCAF13P3 chr15 51238016 51238016 T C het . 13 +ncRNA_intronic MIR4713HG chr15 51350656 51350656 T - het . 7 +ncRNA_intronic MIR4713HG chr15 51524292 51524292 A G het . 2 +intronic GLDN chr15 51635742 51635742 G A het . 2 +exonic DMXL2 chr15 51741200 51741200 C A het . 25 +intronic DMXL2 chr15 51751985 51751985 C A het . 8 +intronic DMXL2 chr15 51757621 51757621 G A het . 4 +intronic DMXL2 chr15 51758346 51758346 A - het . 12 +intronic DMXL2 chr15 51780917 51780917 C A het . 10 +splicing DMXL2(NM_015263:exon2:c.88-2->T,NM_001174117:exon2:c.88-2->T,NM_001174116:exon2:c.88-2->T) chr15 51868380 51868380 - A het . 2 +intergenic DMXL2(dist=43440),SCG3(dist=15143) chr15 51958407 51958407 G A het . 3 +intronic SCG3 chr15 51987960 51987961 AA - het . 7 +intronic LYSMD2 chr15 52039240 52039240 T A het . 3 +intronic TMOD3 chr15 52152256 52152256 G C het . 8 +intronic TMOD3 chr15 52155314 52155314 T C het . 4 +intronic TMOD3 chr15 52194841 52194841 A T het . 2 +exonic MAPK6 chr15 52338842 52338842 C A het . 25 +intergenic MAPK6(dist=14043),BCL2L10(dist=28961) chr15 52372505 52372505 C T het . 2 +intergenic MAPK6(dist=14059),BCL2L10(dist=28945) chr15 52372521 52372521 A G het . 2 +intergenic MAPK6(dist=25018),BCL2L10(dist=17986) chr15 52383480 52383480 A - het . 2 +exonic BCL2L10 chr15 52404862 52404862 A C het . 8 +intronic GNB5 chr15 52420789 52420789 C A het . 11 +intronic GNB5 chr15 52442203 52442203 C T het . 8 +intronic MYO5C chr15 52506938 52506939 TT - het . 6 +intronic MYO5C chr15 52516942 52516942 C A het . 2 +intronic MYO5C chr15 52532952 52532952 G T het . 3 +intronic MYO5C chr15 52556672 52556672 T C het . 2 +intronic MYO5C chr15 52564191 52564191 T C het . 2 +exonic MYO5A chr15 52613666 52613666 C A het . 48 +intronic MYO5A chr15 52635204 52635204 C A het . 16 +intronic MYO5A chr15 52638429 52638429 T A het . 8 +exonic MYO5A chr15 52638592 52638592 C A het . 41 +intronic MYO5A chr15 52640990 52640990 - A het . 18 +intronic MYO5A chr15 52647037 52647037 T C het . 2 +intronic MYO5A chr15 52647046 52647046 A G het . 2 +intronic MYO5A chr15 52647053 52647056 AAAA - het . 2 +exonic MYO5A chr15 52668621 52668621 C A het . 41 +intronic MYO5A chr15 52670838 52670838 G A het . 2 +intronic MYO5A chr15 52681644 52681644 T - het . 10 +intronic MYO5A chr15 52684004 52684004 C A het . 2 +intronic MYO5A chr15 52725587 52725587 A C het . 4 +intronic MYO5A chr15 52772900 52772900 C T het . 2 +intronic MYO5A chr15 52774615 52774615 G C het . 2 +intronic MYO5A chr15 52820904 52820904 C T het . 4 +intergenic FAM214A(dist=5643),ONECUT1(dist=70777) chr15 52976474 52976474 C G het . 5 +intergenic FAM214A(dist=5665),ONECUT1(dist=70755) chr15 52976496 52976496 C A het . 5 +intronic ONECUT1 chr15 53066512 53066512 T A het . 2 +intergenic ONECUT1(dist=127458),LINC02490(dist=198895) chr15 53209667 53209667 A C het . 2 +intergenic ONECUT1(dist=147038),LINC02490(dist=179315) chr15 53229247 53229247 A - het . 4 +intergenic ONECUT1(dist=298566),LINC02490(dist=27785) chr15 53380775 53380777 CTT - het . 2 +intergenic LINC02490(dist=90598),WDR72(dist=293445) chr15 53512493 53512493 T C het . 1 +intergenic LINC02490(dist=90602),WDR72(dist=293441) chr15 53512497 53512497 A G het . 1 +intronic WDR72 chr15 53815528 53815529 AG - het . 21 +intronic WDR72 chr15 53851096 53851096 C T het . 1 +intronic WDR72 chr15 53862699 53862699 C T het . 4 +intronic WDR72 chr15 53894755 53894755 G A het . 2 +intronic WDR72 chr15 53894761 53894761 T A het . 2 +intronic WDR72 chr15 54003526 54003526 A C het . 33 +intronic WDR72 chr15 54004400 54004400 G A het . 2 +intronic WDR72 chr15 54004797 54004797 A C het . 10 +intronic WDR72 chr15 54004802 54004802 - A het . 10 +intronic WDR72 chr15 54008966 54008966 - GTGCTGCACTTAAGT het . 17 +intronic WDR72 chr15 54025013 54025013 A G het . 13 +intergenic WDR72(dist=31040),UNC13C(dist=187478) chr15 54082899 54082899 - A het . 2 +intronic UNC13C chr15 54340428 54340428 T C het . 5 +intronic UNC13C chr15 54366928 54366928 G C het . 2 +intronic UNC13C chr15 54435279 54435279 C A het . 22 +intronic UNC13C chr15 54630552 54630552 - TGTC het . 11 +intronic UNC13C chr15 54630758 54630758 A G het . 6 +intronic UNC13C chr15 54841920 54841920 G A het . 18 +intergenic UNC13C(dist=55753),LOC105370829(dist=372386) chr15 54976559 54976559 G A het . 2 +intergenic UNC13C(dist=109330),LOC105370829(dist=318809) chr15 55030136 55030136 G - het . 2 +intergenic UNC13C(dist=234359),LOC105370829(dist=193780) chr15 55155165 55155165 C T het . 1 +intergenic UNC13C(dist=264674),LOC105370829(dist=163465) chr15 55185480 55185480 T C het . 2 +intronic RSL24D1 chr15 55483104 55483104 C A het . 6 +exonic PIGB chr15 55621936 55621936 G A het . 9 +ncRNA_intronic DNAAF4-CCPG1 chr15 55722770 55722770 C A het . 8 +ncRNA_intronic DNAAF4-CCPG1 chr15 55735486 55735486 G A het . 8 +ncRNA_intronic DNAAF4-CCPG1 chr15 55735513 55735513 G A het . 5 +exonic DNAAF4 chr15 55759242 55759242 T - het . 37 +intergenic PRTG(dist=26318),NEDD4(dist=57482) chr15 56061635 56061635 C G het . 1 +intergenic PRTG(dist=37155),NEDD4(dist=46645) chr15 56072472 56072472 G A het . 2 +intergenic PRTG(dist=66725),NEDD4(dist=17075) chr15 56102042 56102042 T C het . 2 +intergenic PRTG(dist=69144),NEDD4(dist=14656) chr15 56104461 56104461 G A het . 2 +intronic NEDD4 chr15 56165899 56165899 C - het . 2 +exonic NEDD4 chr15 56207811 56207811 T G het . 24 +intronic NEDD4 chr15 56271408 56271408 T C het . 3 +intronic NEDD4 chr15 56271461 56271461 G A het . 4 +intronic NEDD4 chr15 56275501 56275501 - GCGC het . 3 +exonic RFX7 chr15 56386172 56386172 C A het . 28 +intronic RFX7 chr15 56436357 56436357 C T het . 1 +intronic RFX7 chr15 56436500 56436500 A G het . 2 +intronic TEX9 chr15 56680836 56680836 C G het . 7 +intronic TEX9 chr15 56680865 56680865 G A het . 9 +intronic TEX9 chr15 56680991 56680991 G A het . 4 +intronic TEX9 chr15 56720387 56720387 G A het . 4 +intronic MNS1,TEX9 chr15 56721406 56721406 C T het . 14 +intronic MNS1,TEX9 chr15 56723562 56723562 C A het . 14 +intronic MNS1,TEX9 chr15 56735259 56735259 T C het . 2 +intergenic MNS1(dist=50905),ZNF280D(dist=114134) chr15 56808240 56808240 C T het . 1 +intergenic MNS1(dist=133143),ZNF280D(dist=31896) chr15 56890478 56890478 A T het . 2 +intronic ZNF280D chr15 57011533 57011533 A C het . 2 +intergenic ZNF280D(dist=61983),LOC145783(dist=90101) chr15 57088267 57088267 - A het . 2 +intergenic ZNF280D(dist=94705),LOC145783(dist=57379) chr15 57120989 57120989 G A het . 1 +ncRNA_intronic LOC145783 chr15 57202634 57202634 G T het . 2 +ncRNA_exonic LOC145783 chr15 57210562 57210562 C A het . 1 +intronic TCF12 chr15 57245778 57245778 A G het . 2 +intronic TCF12 chr15 57262769 57262769 T A het . 2 +intronic TCF12 chr15 57292547 57292547 T - het . 2 +intronic TCF12 chr15 57363922 57363922 G C het . 2 +intronic TCF12 chr15 57363937 57363937 G T het . 2 +intronic TCF12 chr15 57492360 57492360 C T het . 2 +intronic TCF12 chr15 57571141 57571141 T - het . 3 +intronic CGNL1 chr15 57686276 57686276 A G het . 2 +intronic CGNL1 chr15 57686303 57686303 G T het . 2 +intronic CGNL1 chr15 57753867 57753867 C A het . 18 +intronic CGNL1 chr15 57785793 57785793 C G het . 2 +intergenic CGNL1(dist=19926),MYZAP(dist=21251) chr15 57862851 57862851 T C het . 5 +intergenic CGNL1(dist=19933),MYZAP(dist=21244) chr15 57862858 57862858 G C het . 5 +intergenic CGNL1(dist=21546),MYZAP(dist=19631) chr15 57864471 57864471 C G het . 2 +exonic POLR2M chr15 57999127 57999127 G T het . 11 +exonic ALDH1A2 chr15 58253414 58253414 C A het . 43 +intronic ALDH1A2 chr15 58287435 58287435 C A het . 4 +intergenic AQP9(dist=4011),LIPC(dist=242054) chr15 58482121 58482121 G A het . 2 +intronic LIPC chr15 58812312 58812312 T G het . 3 +intronic LIPC chr15 58853213 58853214 AC - het . 19 +intronic LIPC chr15 58853218 58853218 C T het . 19 +intronic ADAM10 chr15 58891950 58891950 A - het . 18 +intronic ADAM10 chr15 58988174 58988174 T G het . 2 +exonic MINDY2 chr15 59064422 59064422 C A het . 12 +intronic MINDY2 chr15 59131521 59131521 T G het . 6 +intronic SLTM chr15 59190805 59190805 - AAGT het . 7 +splicing SLTM(NM_024755:exon2:c.250+1G>T,NM_001013843:exon2:c.250+1G>T) chr15 59224554 59224554 C A het . 22 +intergenic SLTM(dist=48647),RNF111(dist=5260) chr15 59274522 59274527 TCTCCT - het . 2 +intronic RNF111 chr15 59344802 59344802 G A het . 3 +intronic CCNB2 chr15 59399502 59399502 T - het . 3 +intronic CCNB2 chr15 59415935 59415936 AT - het . 1 +intronic MYO1E chr15 59506693 59506693 A G het . 27 +intronic MYO1E chr15 59518555 59518555 T C het . 2 +intronic MYO1E chr15 59547956 59547956 T A het . 5 +intronic MYO1E chr15 59564448 59564448 T G het . 9 +intronic MYO1E chr15 59611517 59611517 G A het . 3 +intronic MYO1E chr15 59639658 59639658 C G het . 2 +intronic MYO1E chr15 59645568 59645568 - AAAAG het . 3 +intronic MYO1E chr15 59645972 59645972 C G het . 3 +intergenic MYO1E(dist=7589),FAM81A(dist=57712) chr15 59672660 59672660 C T het . 2 +intergenic MYO1E(dist=28898),FAM81A(dist=36403) chr15 59693969 59693969 - T het . 6 +intergenic MYO1E(dist=44897),FAM81A(dist=20404) chr15 59709968 59709968 C T het . 2 +intronic BNIP2 chr15 59963272 59963272 - A het . 6 +intronic BNIP2 chr15 59967505 59967505 A T het . 2 +intronic BNIP2 chr15 59970884 59970884 T C het . 7 +intronic BNIP2 chr15 59972372 59972372 A C het . 4 +intergenic BNIP2(dist=27678),FOXB1(dist=287010) chr15 60009411 60009411 G T het . 2 +intergenic BNIP2(dist=41591),FOXB1(dist=273097) chr15 60023324 60023324 C T het . 2 +intergenic BNIP2(dist=74784),FOXB1(dist=239904) chr15 60056517 60056517 G A het . 2 +intergenic FOXB1(dist=90635),ANXA2(dist=250573) chr15 60388777 60388777 C T het . 2 +intergenic FOXB1(dist=309238),ANXA2(dist=31970) chr15 60607380 60607380 G A het . 1 +intronic ANXA2 chr15 60644074 60644074 C T het . 2 +intronic ANXA2 chr15 60678298 60678298 T A het . 19 +intronic ANXA2 chr15 60678328 60678328 C T het . 17 +intronic ANXA2 chr15 60689927 60689927 G C het . 1 +intergenic ANXA2(dist=6417),ICE2(dist=15206) chr15 60696602 60696602 A - het . 11 +intronic ICE2 chr15 60724317 60724317 - A het . 9 +intronic ICE2 chr15 60748787 60748787 C T het . 3 +intronic ICE2 chr15 60748810 60748810 T A het . 5 +exonic ICE2 chr15 60758905 60758905 T C het . 14 +intronic ICE2 chr15 60759011 60759011 A G het . 15 +ncRNA_intronic RORA-AS2 chr15 60975511 60975514 ACAT - het . 2 +intronic RORA chr15 61239206 61239206 G C het . 3 +intronic RORA chr15 61505679 61505679 T C het . 1 +upstream RORA(dist=65) chr15 61521567 61521567 A G het . 1 +intergenic RORA(dist=148560),LINC02349(dist=352055) chr15 61670062 61670062 C A het . 2 +intergenic RORA(dist=177509),LINC02349(dist=323102) chr15 61699011 61699015 ATCTC - het . 2 +intergenic RORA(dist=376980),LINC02349(dist=123635) chr15 61898482 61898482 C G het . 2 +intergenic RORA(dist=429608),LINC02349(dist=71007) chr15 61951110 61951110 T C het . 2 +intergenic RORA(dist=440244),LINC02349(dist=60371) chr15 61961746 61961746 C G het . 1 +intronic VPS13C chr15 62148731 62148731 A - het . 6 +intronic VPS13C chr15 62160996 62160996 G T het . 6 +intronic VPS13C chr15 62201334 62201335 AA - het . 10 +exonic VPS13C chr15 62207911 62207911 A G het . 10 +intronic VPS13C chr15 62243090 62243090 - ATAT het . 11 +intronic VPS13C chr15 62246587 62246587 C A het . 17 +intronic VPS13C chr15 62261741 62261741 C T het . 7 +intronic VPS13C chr15 62274531 62274531 C A het . 5 +intronic VPS13C chr15 62284088 62284088 T - het . 8 +intronic VPS13C chr15 62284101 62284101 A G het . 9 +intronic VPS13C chr15 62315474 62315474 G A het . 6 +intronic VPS13C chr15 62333322 62333322 T C het . 3 +intergenic C2CD4A(dist=45318),C2CD4B(dist=47303) chr15 62408434 62408434 - TATA het . 2 +intergenic MIR6085(dist=31169),MGC15885(dist=262865) chr15 62666506 62666506 T C het . 1 +intergenic MIR6085(dist=55751),MGC15885(dist=238283) chr15 62691088 62691088 A G het . 1 +intronic TLN2 chr15 62956429 62956429 A - het . 2 +intronic TLN2 chr15 62979016 62979016 A C het . 1 +intronic TLN2 chr15 63032778 63032778 C A het . 9 +intronic TLN2 chr15 63044379 63044379 A G het . 4 +exonic TLN2 chr15 63131087 63131087 C A het . 18 +intergenic TLN2(dist=108639),TPM1(dist=89370) chr15 63245468 63245468 G A het . 13 +intergenic TLN2(dist=172946),TPM1(dist=25063) chr15 63309775 63309775 T C het . 1 +intronic TPM1 chr15 63336099 63336099 C G het . 23 +UTR3 TPM1(NM_001018020:c.*30_*31insATTTTGTTTT,NM_001018004:c.*30_*31insATTTTGTTTT,NM_001018007:c.*30_*31insATTTTGTTTT,NM_001018006:c.*30_*31insATTTTGTTTT,NM_001330344:c.*30_*31insATTTTGTTTT,NM_001330351:c.*1259_*1260insATTTTGTTTT,NM_001301289:c.*30_*31insATTTTGTTTT) chr15 63363401 63363401 - ATTTTGTTTT het . 11 +intronic LACTB chr15 63414723 63414725 TGG CTC het . 9 +UTR3 LACTB(NM_032857:c.*106C>T) chr15 63434110 63434110 C T het . 2 +intergenic LACTB(dist=2691),RPS27L(dist=8584) chr15 63436955 63436955 C - het . 2 +intergenic LACTB(dist=2694),RPS27L(dist=8581) chr15 63436958 63436958 C A het . 2 +intergenic LACTB(dist=2696),RPS27L(dist=8579) chr15 63436960 63436960 A C het . 1 +intergenic LACTB(dist=2713),RPS27L(dist=8562) chr15 63436977 63436977 C A het . 1 +intronic RAB8B chr15 63520154 63520154 T C het . 3 +intronic APH1B chr15 63595651 63595651 A G het . 2 +intronic CA12 chr15 63634405 63634405 G T het . 5 +intronic CA12 chr15 63668011 63668011 T - het . 12 +intronic USP3 chr15 63804538 63804555 TCTTCCTCCTCTTCCTCT - het . 4 +intronic HERC1 chr15 63901485 63901485 G A het . 3 +intronic HERC1 chr15 63965949 63965949 A G het . 2 +intronic HERC1 chr15 64039879 64039879 G A het . 3 +intronic HERC1 chr15 64080791 64080791 C A het . 2 +intergenic HERC1(dist=28079),MIR422A(dist=8903) chr15 64154226 64154226 A G het . 2 +exonic DAPK2 chr15 64215330 64215330 C A het . 21 +ncRNA_intronic LOC101928988 chr15 64227218 64227218 C T het . 2 +intronic DAPK2 chr15 64231357 64231357 C A het . 11 +intronic DAPK2 chr15 64236357 64236357 A G het . 2 +intronic DAPK2 chr15 64263784 64263784 G A het . 5 +intronic DAPK2 chr15 64263795 64263795 G A het . 5 +intronic SNX1 chr15 64407763 64407764 TT - het . 4 +intronic SNX1 chr15 64424179 64424179 T C het . 4 +intergenic SNX1(dist=1671),SNX22(dist=5812) chr15 64438104 64438104 C T het . 1 +UTR5 PPIB(NM_000942:c.-26C>T) chr15 64455211 64455211 G A het . 29 +exonic CSNK1G1 chr15 64480672 64480672 C A het . 21 +intronic CSNK1G1 chr15 64499557 64499557 A C het . 4 +intronic CSNK1G1 chr15 64590694 64590694 T C het . 2 +upstream TRIP4(dist=409) chr15 64679594 64679594 A T het . 13 +intronic TRIP4 chr15 64702168 64702168 G A het . 4 +exonic ZNF609 chr15 64915106 64915106 C T het . 28 +exonic ZNF609 chr15 64915113 64915113 C A het . 27 +intronic ZNF609 chr15 64950991 64950991 - A het . 3 +exonic ZNF609 chr15 64972524 64972524 C A het . 18 +intronic PIF1 chr15 65113493 65113493 G A het . 4 +intronic ANKDD1A chr15 65244864 65244866 CTT - het . 4 +intronic ANKDD1A chr15 65244875 65244875 T C het . 5 +intronic ANKDD1A chr15 65244883 65244883 - TCG het . 4 +intronic ANKDD1A chr15 65245057 65245057 - CTC het . 4 +intronic ANKDD1A chr15 65245233 65245241 TCTTCTTCC - het . 6 +intronic ANKDD1A chr15 65245276 65245276 C T het . 6 +intronic ANKDD1A chr15 65245278 65245278 T C het . 6 +intronic ANKDD1A chr15 65245936 65245936 C T het . 4 +intronic ANKDD1A chr15 65245981 65245981 - C het . 3 +intronic ANKDD1A chr15 65246320 65246320 G C het . 5 +intronic ANKDD1A chr15 65246322 65246324 TTC - het . 5 +intronic ANKDD1A chr15 65246390 65246393 TTCT - het . 6 +intronic ANKDD1A chr15 65246443 65246447 TCTTT - het . 4 +intronic ANKDD1A chr15 65247184 65247184 - CTT het . 6 +intronic ANKDD1A chr15 65247381 65247388 TTCTTTCT - het . 3 +intronic SPG21 chr15 65261931 65261931 T C het . 3 +intronic SPG21 chr15 65267736 65267736 C T het . 4 +intronic SPG21 chr15 65273076 65273079 AACA - het . 11 +intronic SPG21 chr15 65273148 65273148 A - het . 11 +intronic MTFMT chr15 65298672 65298672 G A het . 9 +intronic RASL12 chr15 65352763 65352763 G T het . 1 +exonic UBAP1L chr15 65398441 65398441 C A het . 7 +intergenic CILP(dist=10596),PARP16(dist=35996) chr15 65514436 65514436 C T het . 2 +intergenic CILP(dist=21411),PARP16(dist=25178) chr15 65525251 65525254 AAAC - het . 2 +exonic IGDCC3 chr15 65621857 65621857 T C het . 3 +intronic DPP8 chr15 65785420 65785420 T C het . 3 +intronic DPP8 chr15 65804537 65804537 A T het . 13 +intronic HACD3 chr15 65836825 65836825 G A het . 2 +intronic INTS14 chr15 65883892 65883892 A C het . 8 +intergenic DENND4A(dist=44373),RAB11A(dist=32792) chr15 66129004 66129005 AA - het . 3 +intronic MEGF11 chr15 66241696 66241696 G T het . 2 +intronic MEGF11 chr15 66241698 66241698 A T het . 2 +intronic MEGF11 chr15 66529936 66529936 T C het . 1 +intronic TIPIN chr15 66643979 66643979 - T het . 17 +UTR5 MAP2K1(NM_002755:c.-85G>C) chr15 66679601 66679601 G C het . 11 +intronic MAP2K1 chr15 66773975 66773975 G A het . 3 +ncRNA_intronic LOC102723493 chr15 67308700 67308700 A G het . 1 +ncRNA_intronic LOC102723493 chr15 67337259 67337259 T - het . 2 +ncRNA_intronic LOC102723493 chr15 67348309 67348309 - A het . 3 +intronic IQCH chr15 67555628 67555628 C A het . 11 +ncRNA_intronic IQCH-AS1 chr15 67780291 67780291 G A het . 2 +UTR3 C15orf61(NM_001143936:c.*9G>A) chr15 67818892 67818892 G A het . 6 +intronic MAP2K5 chr15 68005358 68005358 G A het . 3 +intergenic MAP2K5(dist=1168),SKOR1(dist=11419) chr15 68100623 68100623 C T het . 1 +intergenic MAP2K5(dist=10842),SKOR1(dist=1745) chr15 68110297 68110297 T C het . 2 +intronic SKOR1 chr15 68116400 68116400 C A het . 7 +intronic SKOR1 chr15 68121678 68121678 C A het . 5 +intergenic RNU6-2(dist=14994),PIAS1(dist=199140) chr15 68147377 68147377 T A het . 3 +intergenic RNU6-2(dist=40329),PIAS1(dist=173805) chr15 68172712 68172712 T - het . 2 +intergenic RNU6-2(dist=65452),PIAS1(dist=148682) chr15 68197835 68197835 C G het . 4 +intergenic RNU6-2(dist=74402),PIAS1(dist=139732) chr15 68206785 68206785 - T het . 2 +intronic PIAS1 chr15 68434212 68434212 - G het . 15 +intergenic CLN6(dist=25878),FEM1B(dist=22183) chr15 68547958 68547958 A G het . 4 +intergenic CLN6(dist=40447),FEM1B(dist=7614) chr15 68562527 68562527 G T het . 5 +intronic ITGA11 chr15 68603774 68603774 T G het . 9 +intronic ITGA11 chr15 68616496 68616496 A G het . 1 +exonic ITGA11 chr15 68631894 68631894 C T het . 12 +intronic ITGA11 chr15 68644435 68644438 CAAC - het . 6 +intronic ITGA11 chr15 68644470 68644470 T C het . 6 +intergenic ITGA11(dist=52270),CORO2B(dist=33950) chr15 68776762 68776762 G A het . 2 +intergenic CORO2B(dist=24232),ANP32A(dist=26499) chr15 69044376 69044376 A C het . 14 +intergenic CORO2B(dist=24254),ANP32A(dist=26477) chr15 69044398 69044398 A G het . 19 +ncRNA_intronic MIR548H4 chr15 69126634 69126634 C - het . 6 +ncRNA_intronic MIR548H4 chr15 69185679 69185679 T C het . 1 +intronic GLCE chr15 69527430 69527430 T A het . 1 +intronic PAQR5 chr15 69602564 69602564 A G het . 1 +intronic PAQR5 chr15 69644848 69644848 C A het . 2 +intronic PAQR5 chr15 69684477 69684477 T A het . 2 +intronic PAQR5 chr15 69684482 69684482 T - het . 3 +intronic PAQR5 chr15 69684507 69684507 A G het . 2 +ncRNA_intronic LOC145694 chr15 69704282 69704282 A G het . 2 +intronic KIF23 chr15 69715488 69715488 C - het . 3 +intronic KIF23 chr15 69726801 69726801 C A het . 2 +intronic KIF23 chr15 69729100 69729100 T - het . 9 +ncRNA_intronic PCAT29 chr15 69947435 69947435 A T het . 2 +ncRNA_intronic PCAT29 chr15 69950573 69950573 - A het . 3 +intergenic PCAT29(dist=88799),LINC00593(dist=50683) chr15 70076890 70076890 C T het . 3 +intergenic LINC00593(dist=11666),TLE3(dist=193158) chr15 70146972 70146972 T C het . 2 +intergenic LINC00593(dist=79999),TLE3(dist=124825) chr15 70215305 70215305 G T het . 2 +intronic TLE3 chr15 70350457 70350457 C A het . 3 +intronic TLE3 chr15 70388450 70388450 G - het . 6 +intergenic TLE3(dist=266114),LINC02205(dist=139876) chr15 70656370 70656370 T G het . 1 +intergenic TLE3(dist=358262),LINC02205(dist=47728) chr15 70748518 70748518 T C het . 2 +exonic UACA chr15 70979985 70979985 C A het . 19 +intronic UACA chr15 71037786 71037787 AA - het . 2 +intronic LRRC49 chr15 71185837 71185837 G A het . 22 +intronic LRRC49 chr15 71185854 71185855 TT - het . 21 +UTR3 LRRC49(NM_001284357:c.*165G>A,NM_001199017:c.*165G>A,NM_017691:c.*165G>A,NM_001199018:c.*165G>A,NM_001363732:c.*165G>A) chr15 71342116 71342116 G A het . 2 +intronic THSD4 chr15 71484244 71484249 TTTTTT - het . 2 +intronic THSD4 chr15 71666000 71666000 C G het . 3 +intronic THSD4 chr15 71697235 71697235 G T het . 2 +intronic THSD4 chr15 71697241 71697241 - T het . 2 +intronic THSD4 chr15 71799449 71799449 C G het . 1 +intronic THSD4 chr15 71859724 71859724 G T het . 1 +UTR3 THSD4(NM_024817:c.*3290C>T,NM_001286429:c.*3290C>T) chr15 72073003 72073003 C T het . 10 +exonic MYO9A chr15 72172693 72172693 C A het . 16 +intronic MYO9A chr15 72176278 72176282 GTTTT - het . 3 +intronic MYO9A chr15 72186286 72186286 A T het . 7 +exonic MYO9A chr15 72190400 72190400 A G het . 40 +intronic MYO9A chr15 72226278 72226278 C T het . 4 +intronic MYO9A chr15 72227471 72227471 G A het . 2 +intronic MYO9A chr15 72238068 72238068 T - het . 1 +intronic MYO9A chr15 72238069 72238069 T A het . 1 +intronic MYO9A chr15 72252189 72252189 - A het . 7 +intronic MYO9A chr15 72289952 72289952 G A het . 3 +intronic MYO9A chr15 72318635 72318638 AAAG - het . 2 +intronic GRAMD2A chr15 72489692 72489692 C T het . 2 +intronic PKM chr15 72501800 72501800 G A het . 1 +intergenic CELF6(dist=12155),HEXA(dist=11096) chr15 72624680 72624680 T - het . 3 +intronic HEXA chr15 72660332 72660333 TG - het . 2 +ncRNA_intronic TMEM202-AS1 chr15 72711040 72711040 T G het . 2 +ncRNA_intronic TMEM202-AS1 chr15 72711063 72711063 G T het . 1 +intronic ARIH1 chr15 72810503 72810503 C T het . 11 +intronic ARIH1 chr15 72839577 72839577 - TCTC het . 4 +intronic ARIH1 chr15 72846772 72846772 T C het . 2 +intronic ARIH1 chr15 72859047 72859047 - T het . 8 +ncRNA_exonic MIR630 chr15 72879653 72879653 - TTG het . 13 +ncRNA_intronic LINC02259 chr15 72901822 72901822 A G het . 3 +ncRNA_intronic LINC02259 chr15 72902150 72902150 G C het . 3 +ncRNA_intronic LINC02259 chr15 72904159 72904159 T C het . 7 +intronic BBS4 chr15 72987588 72987588 G T het . 22 +intronic BBS4 chr15 72987637 72987637 T - het . 17 +intronic BBS4 chr15 72996815 72996815 A G het . 25 +exonic BBS4 chr15 73002101 73002101 A G het . 36 +ncRNA_intronic ADPGK-AS1 chr15 73077608 73077608 G C het . 1 +intergenic ADPGK-AS1(dist=39169),NEO1(dist=215116) chr15 73129709 73129709 G T het . 2 +intronic NEO1 chr15 73454308 73454308 T G het . 3 +intronic NEO1 chr15 73545714 73545714 - T het . 4 +intronic NEO1 chr15 73545732 73545732 T C het . 6 +intergenic NEO1(dist=5905),HCN4(dist=8748) chr15 73603452 73603452 T - het . 2 +intronic HCN4 chr15 73635662 73635662 C A het . 9 +exonic REC114 chr15 73848694 73848694 G A het . 18 +intronic REC114 chr15 73848808 73848808 A C het . 3 +intronic CD276 chr15 73981005 73981005 A G het . 1 +UTR3 LOXL1(NM_005576:c.*100C>G) chr15 74244278 74244278 C G het . 4 +intergenic PML(dist=4168),GOLGA6A(dist=17875) chr15 74344323 74344323 T A het . 2 +intergenic GOLGA6A(dist=17655),LOC283731(dist=26168) chr15 74392546 74392546 A - het . 10 +ncRNA_intronic LOC283731 chr15 74421010 74421010 C G het . 15 +ncRNA_intronic LOC283731 chr15 74421025 74421025 C T het . 10 +intronic STRA6 chr15 74476170 74476170 T C het . 17 +exonic STRA6 chr15 74476274 74476274 C T het . 25 +intronic STRA6 chr15 74492585 74492585 G T het . 4 +UTR5 CCDC33(NM_025055:c.-76T>G) chr15 74528985 74528985 T G het . 4 +exonic CCDC33 chr15 74536401 74536403 AAG - het . 9 +intergenic LINC02255(dist=5294),SEMA7A(dist=9235) chr15 74692390 74692390 C - het . 2 +intergenic LINC02255(dist=5316),SEMA7A(dist=9213) chr15 74692412 74692412 C A het . 2 +intergenic UBL7-AS1(dist=12960),ARID3B(dist=46925) chr15 74786593 74786593 G T het . 2 +intronic EDC3 chr15 74967648 74967648 G A het . 3 +exonic CYP1A1 chr15 75012979 75012979 G T het . 8 +intronic CYP1A2 chr15 75044238 75044238 G A het . 2 +exonic CPLX3 chr15 75122558 75122560 GAG - het . 25 +UTR5 ULK3(NM_001099436:c.-1A>G,NM_001284365:c.-1019A>G,NM_001284364:c.-1A>G) chr15 75135447 75135447 T C het . 2 +intronic MPI chr15 75185670 75185670 A G het . 21 +intronic COX5A chr15 75218841 75218841 A - het . 2 +intergenic RPP25(dist=17018),SCAMP5(dist=21083) chr15 75266793 75266793 T - het . 2 +intergenic RPP25(dist=31357),SCAMP5(dist=6744) chr15 75281132 75281132 C T het . 1 +intergenic PPCDC(dist=56035),C15orf39(dist=95119) chr15 75399102 75399102 G T het . 2 +intergenic PPCDC(dist=75103),C15orf39(dist=76051) chr15 75418170 75418170 T A het . 2 +intergenic PPCDC(dist=116532),C15orf39(dist=34620) chr15 75459599 75459601 CTC - het . 9 +intronic COMMD4 chr15 75631100 75631100 C G het . 17 +intronic COMMD4 chr15 75631839 75631839 A C het . 3 +intronic MAN2C1 chr15 75655765 75655765 - T het . 3 +exonic SIN3A chr15 75685144 75685144 C A het . 6 +intronic SNUPN chr15 75897629 75897629 C A het . 6 +intronic SNUPN chr15 75897647 75897647 T - het . 4 +intronic SNUPN chr15 75914387 75914387 C A het . 2 +intergenic MIR4313(dist=23681),UBE2Q2(dist=57290) chr15 76078337 76078337 G A het . 3 +intergenic MIR4313(dist=23716),UBE2Q2(dist=57255) chr15 76078372 76078372 A G het . 4 +intronic UBE2Q2 chr15 76189108 76189108 G T het . 3 +intronic UBE2Q2 chr15 76191644 76191644 A T het . 9 +intronic UBE2Q2 chr15 76191743 76191743 - T het . 7 +intronic TMEM266 chr15 76494535 76494535 C A het . 7 +intronic ETFA chr15 76518346 76518346 - CCTTA het . 21 +intronic ETFA chr15 76553451 76553451 G - het . 19 +intronic ETFA chr15 76553486 76553486 A G het . 19 +intronic SCAPER chr15 76644199 76644199 C A het . 3 +intronic SCAPER chr15 77085740 77085740 C A het . 3 +exonic PSTPIP1 chr15 77329442 77329443 GG AA het . 15 +intronic HMG20A chr15 77757624 77757624 - AAAG het . 1 +intergenic LINGO1(dist=33140),LOC645752(dist=60177) chr15 78146382 78146382 A G het . 1 +intergenic LINGO1(dist=76410),LOC645752(dist=16906) chr15 78189652 78189653 AG CA het . 5 +intergenic LINGO1(dist=78468),LOC645752(dist=14849) chr15 78191710 78191710 G A het . 4 +intergenic LINGO1(dist=78545),LOC645752(dist=14772) chr15 78191787 78191787 G A het . 3 +ncRNA_splicing LOC645752(NR_027024:exon13:c.1494-2G>A) chr15 78209436 78209436 C T het . 14 +ncRNA_intronic LOC645752 chr15 78214318 78214318 G T het . 22 +ncRNA_intronic LOC645752 chr15 78214612 78214612 G A het . 2 +ncRNA_intronic LOC645752 chr15 78215590 78215590 A T het . 2 +intergenic LOC440292(dist=37419),LOC91450(dist=11253) chr15 78274322 78274322 G A het . 6 +intergenic LOC440292(dist=37434),LOC91450(dist=11238) chr15 78274337 78274337 A G het . 3 +intergenic LOC440292(dist=40055),LOC91450(dist=8617) chr15 78276958 78276958 G C het . 1 +intergenic LOC440292(dist=41581),LOC91450(dist=7091) chr15 78278484 78278484 G A het . 3 +intronic TBC1D2B chr15 78332993 78332996 AGAA - het . 2 +intergenic TBC1D2B(dist=12972),SH2D7(dist=1959) chr15 78382966 78382968 CAT - het . 4 +exonic SH2D7 chr15 78385008 78385008 G A het . 19 +intronic ACSBG1 chr15 78519245 78519245 A - het . 2 +intergenic ACSBG1(dist=8367),DNAJA4(dist=21071) chr15 78535416 78535416 T A het . 3 +downstream DNAJA4,WDR61(dist=791) chr15 78574787 78574787 C T het . 2 +intronic WDR61 chr15 78587744 78587744 T - het . 3 +intronic IREB2 chr15 78758902 78758902 - C het . 9 +intronic HYKK chr15 78807251 78807252 TA - het . 5 +intronic HYKK chr15 78819606 78819606 C T het . 3 +intronic PSMA4 chr15 78836022 78836022 C A het . 2 +intronic PSMA4 chr15 78838791 78838791 A - het . 7 +exonic CHRNB4 chr15 78922240 78922240 C T het . 5 +intergenic CHRNB4(dist=87553),LOC646938(dist=23239) chr15 79021140 79021140 T C het . 2 +intergenic ADAMTS7(dist=24196),MORF4L1(dist=37122) chr15 79128001 79128001 C T het . 3 +intergenic ADAMTS7(dist=38829),MORF4L1(dist=22489) chr15 79142634 79142634 G A het . 2 +intergenic ADAMTS7(dist=51728),MORF4L1(dist=9588) chr15 79155533 79155535 TTT - het . 8 +intronic MORF4L1 chr15 79177122 79177122 C T het . 2 +intronic CTSH chr15 79233255 79233255 T C het . 1 +exonic RASGRF1 chr15 79282541 79282541 T G het . 20 +intronic RASGRF1 chr15 79291262 79291262 C T het . 4 +exonic ANKRD34C chr15 79586693 79586695 GTG - het . 18 +intergenic MINAR1(dist=38083),ST20-MTHFS(dist=333164) chr15 79802725 79802725 A C het . 2 +exonic ST20 chr15 80191280 80191280 T A het . 16 +ncRNA_exonic ST20-AS1 chr15 80215597 80215597 G T het . 16 +ncRNA_exonic ST20-AS1 chr15 80215872 80215872 C A het . 11 +intergenic ST20-AS1(dist=16113),BCL2A1(dist=19922) chr15 80233309 80233310 AG CA het . 3 +intergenic ST20-AS1(dist=19617),BCL2A1(dist=16419) chr15 80236813 80236813 A G het . 13 +intergenic BCL2A1(dist=20597),ZFAND6(dist=67670) chr15 80284240 80284240 G A het . 2 +intronic ZFAND6 chr15 80412579 80412579 C T het . 5 +intergenic FAH(dist=4851),CTXND1(dist=4046) chr15 80483775 80483775 T C het . 2 +ncRNA_intronic LOC101929586 chr15 80851646 80851646 G A het . 2 +ncRNA_intronic LOC101929586 chr15 80851656 80851656 - CCCAGC het . 2 +intronic CEMIP chr15 81201839 81201839 A G het . 15 +intergenic TLNRD1(dist=52803),CFAP161(dist=77440) chr15 81349148 81349148 T - het . 2 +intergenic TLNRD1(dist=53442),CFAP161(dist=76801) chr15 81349787 81349787 G T het . 3 +intergenic TLNRD1(dist=101398),CFAP161(dist=28845) chr15 81397743 81397743 A C het . 2 +intergenic TLNRD1(dist=119223),CFAP161(dist=11020) chr15 81415568 81415568 G A het . 3 +exonic CFAP161 chr15 81428958 81428958 T G het . 32 +intronic CFAP161 chr15 81440147 81440147 - A het . 5 +intergenic CFAP161(dist=21472),IL16(dist=26231) chr15 81462988 81462988 G T het . 2 +intergenic TMC3-AS1(dist=127705),MEX3B(dist=470997) chr15 81863122 81863122 G C het . 3 +intergenic TMC3-AS1(dist=397319),MEX3B(dist=201382) chr15 82132736 82132737 GA - het . 2 +intergenic TMC3-AS1(dist=567108),MEX3B(dist=31594) chr15 82302525 82302525 - T het . 6 +intronic EFL1 chr15 82506902 82506902 G T het . 4 +splicing EFL1(NM_001040610:exon7:c.779+1G>T,NM_024580:exon9:c.932+1G>T,NM_001322845:exon9:c.932+1G>T,NM_001322844:exon8:c.143+1G>T) chr15 82521374 82521374 C A het . 9 +intronic CPEB1 chr15 83256855 83256857 TTT - het . 3 +intronic CPEB1 chr15 83256870 83256870 T - het . 3 +intronic CPEB1 chr15 83263105 83263105 G T het . 6 +intronic CPEB1 chr15 83263114 83263114 - AAAAG het . 5 +intronic CPEB1 chr15 83281596 83281596 C A het . 4 +ncRNA_intronic CPEB1-AS1 chr15 83351677 83351677 A - het . 4 +ncRNA_intronic CPEB1-AS1 chr15 83358245 83358245 T G het . 6 +intronic FSD2 chr15 83449090 83449090 T - het . 8 +intronic FSD2 chr15 83449124 83449124 T - het . 9 +intronic HOMER2 chr15 83569076 83569076 G A het . 3 +intronic HOMER2 chr15 83575040 83575040 C T het . 2 +exonic C15orf40 chr15 83677271 83677271 A - het . 20 +intronic C15orf40 chr15 83680231 83680231 A C het . 4 +intronic ADAMTSL3 chr15 84397162 84397162 C G het . 1 +intronic ADAMTSL3 chr15 84464016 84464018 CAA - het . 3 +intronic ADAMTSL3 chr15 84554058 84554058 T G het . 11 +intronic SEC11A chr15 85226615 85226615 - AAAC het . 5 +intronic ALPK3 chr15 85402431 85402431 G A het . 3 +intronic SLC28A1 chr15 85452268 85452268 T - het . 5 +intronic SLC28A1 chr15 85452276 85452276 T C het . 5 +intergenic GOLGA6L3(dist=92112),MIR7706(dist=41297) chr15 85882530 85882530 G C het . 4 +intergenic GOLGA6L3(dist=92158),MIR7706(dist=41251) chr15 85882576 85882576 - TGG het . 3 +intronic AKAP13 chr15 86064129 86064130 CG GA het . 2 +intronic AKAP13 chr15 86075417 86075417 A G het . 3 +exonic AKAP13 chr15 86122503 86122503 C A het . 23 +intronic AKAP13 chr15 86274788 86274788 G T het . 2 +intronic AKAP13 chr15 86278771 86278771 C - het . 18 +intronic AKAP13 chr15 86287724 86287724 G A het . 5 +intronic KLHL25 chr15 86309059 86309059 - A het . 2 +intergenic KLHL25(dist=12765),MIR548AP(dist=17912) chr15 86350954 86350954 A - het . 2 +intergenic KLHL25(dist=17078),MIR548AP(dist=13599) chr15 86355267 86355267 - T het . 2 +intergenic KLHL25(dist=17079),MIR548AP(dist=13598) chr15 86355268 86355268 C T het . 2 +intergenic KLHL25(dist=17093),MIR548AP(dist=13578) chr15 86355282 86355288 TTTTTAT - het . 2 +intergenic KLHL25(dist=18845),MIR548AP(dist=11832) chr15 86357034 86357034 G A het . 1 +intergenic MIR548AP(dist=216739),AGBL1(dist=37339) chr15 86585700 86585700 T C het . 1 +intronic AGBL1 chr15 86702076 86702076 T A het . 5 +intronic AGBL1 chr15 86702078 86702078 A - het . 5 +intronic AGBL1 chr15 87371004 87371004 C A het . 1 +intronic AGBL1 chr15 87474798 87474803 TGCTGC - het . 7 +ncRNA_intronic LOC102724452 chr15 87496457 87496457 C T het . 2 +intergenic AGBL1(dist=137027),LINC00052(dist=410850) chr15 87709310 87709310 T C het . 1 +intergenic AGBL1(dist=311549),LINC00052(dist=236328) chr15 87883832 87883832 A G het . 2 +intergenic AGBL1(dist=541556),LINC00052(dist=6321) chr15 88113839 88113839 T C het . 2 +exonic MRPL46 chr15 89002909 89002909 C A het . 14 +intergenic MRPS11(dist=12811),DET1(dist=18902) chr15 89036809 89036809 T G het . 2 +intergenic MIR7-2(dist=2934),AEN(dist=6428) chr15 89158099 89158099 - TTG het . 2 +exonic AEN chr15 89172558 89172558 G C het . 19 +exonic AEN chr15 89173398 89173398 G A het . 15 +exonic ACAN chr15 89392745 89392745 T C het . 2 +intronic MFGE8 chr15 89444760 89444760 T C het . 5 +intergenic MFGE8(dist=31488),ABHD2(dist=143193) chr15 89488188 89488188 T C het . 1 +intergenic MFGE8(dist=36845),ABHD2(dist=137836) chr15 89493545 89493545 A G het . 6 +intergenic MFGE8(dist=36875),ABHD2(dist=137806) chr15 89493575 89493575 A - het . 7 +intergenic MFGE8(dist=40080),ABHD2(dist=134601) chr15 89496780 89496780 G A het . 2 +intergenic MFGE8(dist=44552),ABHD2(dist=130129) chr15 89501252 89501252 A G het . 1 +intronic ABHD2 chr15 89723370 89723370 A T het . 2 +intronic ABHD2 chr15 89723378 89723378 G A het . 2 +intergenic ABHD2(dist=4305),RLBP1(dist=3199) chr15 89749896 89749899 AAAC - het . 1 +intronic RLBP1 chr15 89758552 89758552 A G het . 2 +intronic FANCI chr15 89790711 89790711 A G het . 6 +intronic FANCI chr15 89816558 89816558 G A het . 10 +exonic FANCI chr15 89838207 89838207 C T het . 25 +exonic FANCI chr15 89838236 89838236 G A het . 21 +intronic FANCI chr15 89846879 89846879 T C het . 4 +intronic FANCI chr15 89856048 89856048 A - het . 7 +intronic FANCI chr15 89857711 89857711 - TACAAG het . 16 +intronic POLG chr15 89864316 89864316 - CTAC het . 17 +intronic POLG chr15 89864763 89864763 G T het . 4 +exonic POLG chr15 89873393 89873393 C A het . 25 +exonic POLG chr15 89876828 89876830 TGC - het . 27 +exonic RHCG chr15 90030165 90030165 G A het . 8 +intergenic LINC00928(dist=14640),TICRR(dist=36913) chr15 90081905 90081905 G A het . 4 +intergenic LINC00928(dist=15201),TICRR(dist=36347) chr15 90082466 90082471 AAAGGA - het . 2 +intergenic LINC00928(dist=27272),TICRR(dist=24280) chr15 90094537 90094538 AG - het . 2 +intronic TICRR chr15 90127467 90127467 T C het . 7 +exonic TICRR chr15 90127711 90127711 T G het . 10 +intronic TICRR chr15 90135432 90135432 A G het . 17 +intronic TICRR chr15 90141480 90141480 A G het . 3 +intronic TICRR chr15 90141591 90141591 - TTGT het . 5 +exonic TICRR chr15 90161424 90161424 C A het . 27 +intronic PEX11A chr15 90231398 90231398 T C het . 9 +exonic WDR93 chr15 90245077 90245077 C A het . 30 +intronic ANPEP chr15 90342170 90342170 - AAAC het . 3 +intronic AP3S2,C15orf38-AP3S2 chr15 90415349 90415349 A - het . 2 +UTR5 AP3S2(NM_005829:c.-120G>A) chr15 90437301 90437301 C T het . 8 +exonic ZNF710 chr15 90610807 90610807 C A het . 15 +intronic IDH2 chr15 90634685 90634685 G - het . 3 +ncRNA_intronic IDH2-DT chr15 90653569 90653569 - AAG het . 2 +ncRNA_intronic IDH2-DT chr15 90672131 90672131 C T het . 2 +intronic SEMA4B chr15 90768156 90768156 A G het . 6 +intronic IQGAP1 chr15 90982482 90982482 A T het . 3 +intronic IQGAP1 chr15 90984725 90984725 T - het . 22 +intronic IQGAP1 chr15 91043193 91043202 TGTTTTGTTT - het . 16 +intergenic IQGAP1(dist=21758),CRTC3(dist=5884) chr15 91067233 91067234 AA - het . 6 +intronic CRTC3 chr15 91094573 91094573 - CT het . 2 +intronic CRTC3 chr15 91141240 91141240 A C het . 1 +intronic CRTC3 chr15 91161098 91161098 T - het . 20 +UTR5 BLM(NM_001287248:c.-89_-88del-) chr15 91303326 91303327 TT - het . 20 +intronic BLM chr15 91337208 91337208 G A het . 5 +intronic BLM chr15 91346630 91346630 - A het . 8 +intergenic BLM(dist=14806),FURIN(dist=38324) chr15 91373498 91373498 A G het . 2 +intergenic BLM(dist=36499),FURIN(dist=16631) chr15 91395191 91395191 G T het . 2 +intronic FES chr15 91428636 91428636 G A het . 5 +intronic VPS33B chr15 91560907 91560907 C A het . 6 +intergenic VPS33B-DT(dist=20713),SV2B(dist=47736) chr15 91595082 91595082 C T het . 1 +intronic SV2B chr15 91663356 91663356 T C het . 1 +intronic SV2B chr15 91686239 91686239 T G het . 3 +intronic SV2B chr15 91686253 91686253 C G het . 3 +intronic SV2B chr15 91686262 91686262 C T het . 3 +intergenic SV2B(dist=78774),CRAT37(dist=82000) chr15 91924569 91924569 C A het . 2 +intergenic SV2B(dist=108706),CRAT37(dist=52068) chr15 91954501 91954501 G C het . 1 +intergenic SV2B(dist=119426),CRAT37(dist=41348) chr15 91965221 91965221 T C het . 3 +UTR5 SLCO3A1(NM_013272:c.-32_-30del-,NM_001145044:c.-32_-30del-) chr15 92397107 92397109 GCG - het . 7 +intronic ST8SIA2 chr15 92982445 92982445 T - het . 2 +intronic ST8SIA2 chr15 92982454 92982454 G A het . 2 +exonic FAM174B chr15 93198671 93198671 A G het . 18 +exonic FAM174B chr15 93198679 93198684 TGGAGC - het . 17 +intergenic FAM174B(dist=78398),ASB9P1(dist=61285) chr15 93277429 93277429 C G het . 17 +intergenic FAM174B(dist=78400),ASB9P1(dist=61283) chr15 93277431 93277431 C G het . 17 +intergenic FAM174B(dist=78409),ASB9P1(dist=61269) chr15 93277440 93277445 CTCCGC - het . 14 +intergenic FAM174B(dist=78420),ASB9P1(dist=61260) chr15 93277451 93277454 CCTC - het . 12 +intergenic FAM174B(dist=78426),ASB9P1(dist=61256) chr15 93277457 93277458 CC - het . 10 +intergenic ASB9P1(dist=77272),LINC01578(dist=8461) chr15 93417610 93417612 TTT - het . 2 +intronic CHD2 chr15 93496874 93496874 C T het . 4 +intronic CHD2 chr15 93515439 93515439 G A het . 4 +intronic CHD2 chr15 93539391 93539391 T - het . 2 +intronic RGMA chr15 93609617 93609617 A G het . 3 +intronic RGMA chr15 93610139 93610139 A G het . 2 +intronic RGMA chr15 93632123 93632123 T C het . 3 +intergenic RGMA(dist=237841),LINC02207(dist=529505) chr15 93870284 93870284 C T het . 2 +intergenic RGMA(dist=442047),LINC02207(dist=325299) chr15 94074490 94074490 G T het . 2 +intergenic RGMA(dist=485043),LINC02207(dist=282303) chr15 94117486 94117486 C T het . 2 +intergenic RGMA(dist=521058),LINC02207(dist=246288) chr15 94153501 94153501 A G het . 2 +intergenic RGMA(dist=559263),LINC02207(dist=208083) chr15 94191706 94191706 A G het . 1 +intergenic RGMA(dist=736054),LINC02207(dist=31292) chr15 94368497 94368497 G C het . 6 +ncRNA_intronic LINC01580,LINC01581 chr15 94519312 94519312 G A het . 2 +ncRNA_intronic LINC01581 chr15 94603972 94603972 G A het . 2 +intronic MCTP2 chr15 94943024 94943024 C T het . 6 +intronic MCTP2 chr15 95006964 95006964 G A het . 2 +intergenic LOC440311(dist=125859),LINC01197(dist=296367) chr15 95526152 95526152 G A het . 2 +intergenic LOC440311(dist=143726),LINC01197(dist=278500) chr15 95544019 95544019 A - het . 2 +intergenic LOC440311(dist=259522),LINC01197(dist=162704) chr15 95659815 95659815 G A het . 4 +intergenic LINC01197(dist=14458),LINC00924(dist=91535) chr15 95884787 95884787 C A het . 1 +intergenic LINC01197(dist=18142),LINC00924(dist=87851) chr15 95888471 95888471 C T het . 1 +intergenic LINC01197(dist=101903),LINC00924(dist=4090) chr15 95972232 95972232 C T het . 2 +intergenic LINC00924(dist=208051),NR2F2-AS1(dist=411462) chr15 96259127 96259127 - A het . 2 +intergenic LINC00924(dist=439787),NR2F2-AS1(dist=179726) chr15 96490863 96490863 A - het . 2 +intergenic LINC00924(dist=515577),NR2F2-AS1(dist=103936) chr15 96566653 96566653 A G het . 3 +intergenic LINC00924(dist=584822),NR2F2-AS1(dist=34690) chr15 96635898 96635899 TT GC het . 2 +ncRNA_intronic NR2F2-AS1 chr15 96694953 96694953 A - het . 2 +ncRNA_intronic NR2F2-AS1 chr15 96823802 96823802 G A het . 2 +ncRNA_intronic NR2F2-AS1 chr15 96823959 96823959 G A het . 3 +intergenic NR2F2(dist=42672),SPATA8-AS1(dist=389060) chr15 96926164 96926175 AAAAGAAAAAGA - het . 2 +intergenic NR2F2(dist=107816),SPATA8-AS1(dist=323927) chr15 96991308 96991308 C A het . 4 +intergenic NR2F2(dist=312199),SPATA8-AS1(dist=119544) chr15 97195691 97195691 - C het . 3 +intergenic NR2F2(dist=341095),SPATA8-AS1(dist=90648) chr15 97224587 97224587 C T het . 2 +intergenic NR2F2(dist=341105),SPATA8-AS1(dist=90638) chr15 97224597 97224597 A C het . 1 +intergenic SPATA8(dist=40115),LINC02254(dist=544641) chr15 97368960 97368960 C A het . 2 +intergenic SPATA8(dist=75348),LINC02254(dist=509408) chr15 97404193 97404193 T C het . 2 +intergenic SPATA8(dist=75360),LINC02254(dist=509396) chr15 97404205 97404205 - T het . 2 +intergenic SPATA8(dist=75363),LINC02254(dist=509393) chr15 97404208 97404208 - T het . 2 +intergenic SPATA8(dist=111677),LINC02254(dist=473079) chr15 97440522 97440522 G T het . 2 +intergenic SPATA8(dist=182502),LINC02254(dist=402254) chr15 97511347 97511347 A G het . 1 +intergenic SPATA8(dist=282130),LINC02254(dist=302626) chr15 97610975 97610975 - T het . 2 +intergenic SPATA8(dist=441412),LINC02254(dist=143344) chr15 97770257 97770257 C A het . 2 +ncRNA_intronic LINC02254 chr15 97935530 97935530 T C het . 2 +intergenic LINC00923(dist=21082),ARRDC4(dist=65192) chr15 98438741 98438741 G T het . 3 +intergenic LINC00923(dist=21112),ARRDC4(dist=65162) chr15 98438771 98438771 - C het . 4 +intronic ARRDC4 chr15 98508661 98508661 G A het . 8 +intronic ARRDC4 chr15 98508671 98508671 C A het . 10 +intronic ARRDC4 chr15 98512623 98512623 T - het . 15 +intronic ARRDC4 chr15 98513087 98513087 T - het . 4 +intronic ARRDC4 chr15 98513629 98513629 G T het . 5 +intergenic LINC01582(dist=156590),LINC02351(dist=78090) chr15 98788572 98788572 C A het . 2 +intergenic LINC01582(dist=156595),LINC02351(dist=78084) chr15 98788577 98788578 GC CA het . 2 +intergenic LINC01582(dist=171306),LINC02351(dist=63374) chr15 98803288 98803288 C A het . 3 +intronic FAM169B chr15 98995052 98995052 - T het . 2 +intergenic FAM169B(dist=29683),IRAIN(dist=101801) chr15 99087294 99087294 C A het . 4 +intronic IGF1R chr15 99219793 99219793 A - het . 2 +intronic IGF1R chr15 99299479 99299480 TT - het . 2 +intronic IGF1R chr15 99346893 99346893 G C het . 1 +intronic IGF1R chr15 99454363 99454363 A G het . 8 +intronic IGF1R chr15 99466969 99466969 C G het . 4 +UTR3 IGF1R(NM_001291858:c.*1259delA,NM_000875:c.*1259delA) chr15 99501930 99501930 A - het . 2 +intronic PGPEP1L chr15 99523419 99523419 A G het . 4 +intergenic LUNAR1(dist=10990),SYNM(dist=60021) chr15 99585265 99585265 A T het . 2 +intronic SYNM chr15 99654608 99654608 A G het . 2 +intronic SYNM chr15 99656834 99656834 A G het . 1 +exonic SYNM chr15 99671760 99671760 T C het . 17 +exonic SYNM chr15 99671775 99671775 C T het . 17 +intronic TTC23 chr15 99688565 99688565 C A het . 2 +exonic TTC23 chr15 99715352 99715352 A G het . 25 +intergenic LRRC28(dist=160914),MEF2A(dist=13955) chr15 100091851 100091851 C T het . 3 +intronic ADAMTS17 chr15 100537494 100537494 C T het . 4 +intronic ADAMTS17 chr15 100596872 100596872 T C het . 1 +intronic ADAMTS17 chr15 100599655 100599655 G A het . 2 +intronic ADAMTS17 chr15 100599658 100599659 AT - het . 2 +intronic ADAMTS17 chr15 100672480 100672480 C A het . 6 +intronic ADAMTS17 chr15 100693032 100693032 - TT het . 11 +intronic ADAMTS17 chr15 100801603 100801603 T C het . 12 +intergenic SPATA41(dist=10331),CERS3-AS1(dist=11890) chr15 100901254 100901254 C A het . 1 +ncRNA_intronic CERS3-AS1 chr15 100929644 100929644 C T het . 4 +intronic CERS3 chr15 100980840 100980840 A G het . 2 +intronic CERS3 chr15 100996395 100996395 G A het . 3 +intronic CERS3 chr15 101005134 101005134 G A het . 2 +intronic CERS3 chr15 101020129 101020129 T A het . 16 +exonic LINS1 chr15 101110255 101110255 C A het . 24 +intronic LINS1 chr15 101110565 101110565 C T het . 3 +exonic LINS1 chr15 101113862 101113862 C T het . 10 +intronic ASB7 chr15 101180773 101180773 A G het . 1 +intergenic ASB7(dist=121829),ALDH1A3(dist=106164) chr15 101313733 101313733 T - het . 2 +intronic LRRK1 chr15 101495789 101495789 T C het . 2 +intronic LRRK1 chr15 101495815 101495815 C T het . 2 +intronic LRRK1 chr15 101551136 101551136 C T het . 6 +intronic LRRK1 chr15 101589765 101589765 T G het . 5 +intronic LRRK1 chr15 101602944 101602944 G A het . 9 +intergenic LRRK1(dist=46662),CHSY1(dist=56165) chr15 101659756 101659763 GTTTTTTT - het . 2 +intronic CHSY1 chr15 101727005 101727009 AAACA - het . 3 +intronic CHSY1 chr15 101727042 101727042 A C het . 2 +intronic CHSY1 chr15 101791271 101791271 G A het . 13 +intronic SNRPA1 chr15 101827759 101827759 T C het . 5 +intronic PCSK6 chr15 101862970 101862970 T C het . 7 +UTR3 PCSK6(NM_138324:c.*134A>G,NM_138323:c.*175A>G) chr15 101887794 101887794 T C het . 3 +intronic PCSK6 chr15 101929633 101929634 TT - het . 18 +intergenic PCSK6(dist=36048),LINC02348(dist=76754) chr15 102066235 102066235 A C het . 3 +intergenic PCSK6(dist=42053),LINC02348(dist=70749) chr15 102072240 102072240 C T het . 2 +intergenic PCSK6(dist=42063),LINC02348(dist=70739) chr15 102072250 102072250 C A het . 2 +intergenic PCSK6(dist=42068),LINC02348(dist=70734) chr15 102072255 102072255 T C het . 2 +intergenic PCSK6(dist=42074),LINC02348(dist=70728) chr15 102072261 102072261 C - het . 2 +exonic TM2D3 chr15 102192548 102192548 A C het . 8 +intergenic LOC100128108(dist=5710),OR4F6(dist=53137) chr15 102292783 102292786 CTCA - het . 7 +intergenic LOC100128108(dist=26223),OR4F6(dist=32625) chr15 102313296 102313298 CCT - het . 16 +exonic OR4F15 chr15 102358729 102358729 C A het . 14 +intergenic OR4F15(dist=9855),OR4F13P(dist=13139) chr15 102369183 102369183 A G het . 18 +intergenic OR4F13P(dist=7851),OR4F4(dist=63967) chr15 102398378 102398378 A G het . 2 +intergenic OR4F13P(dist=7872),OR4F4(dist=63946) chr15 102398399 102398399 T G het . 2 +intronic RHBDF1 chr16 110284 110284 G A het . 8 +intergenic NPRL3(dist=9031),HBZ(dist=5126) chr16 197728 197728 T A het . 2 +intergenic NPRL3(dist=9046),HBZ(dist=5111) chr16 197743 197743 T A het . 2 +exonic HBM chr16 216593 216593 T C het . 19 +intronic LUC7L chr16 256278 256278 A C het . 3 +exonic PDIA2 chr16 336660 336660 G A het . 12 +exonic NME4 chr16 449659 449659 G A het . 3 +intronic CAPN15 chr16 602046 602046 T C het . 4 +intronic MSLN chr16 816874 816874 C T het . 7 +intronic LMF1 chr16 1014119 1014119 A G het . 18 +intergenic SOX8(dist=30853),SSTR5-AS1(dist=46250) chr16 1067832 1067832 G T het . 2 +intronic CACNA1H chr16 1257731 1257731 G A het . 4 +exonic CACNA1H chr16 1260636 1260636 G A het . 11 +intronic CACNA1H chr16 1264955 1264955 C A het . 4 +exonic TPSG1 chr16 1271938 1271938 T C het . 3 +exonic TPSG1 chr16 1272275 1272275 C T het . 4 +exonic TPSD1 chr16 1306918 1306918 C T het . 27 +exonic TPSD1 chr16 1306921 1306921 G A het . 26 +exonic TPSD1 chr16 1306927 1306927 C T het . 22 +intronic GNPTG chr16 1408869 1408869 T - het . 3 +intronic CCDC154 chr16 1492860 1492860 C T het . 5 +intronic CLCN7 chr16 1497137 1497137 C T het . 6 +intronic CLCN7 chr16 1499377 1499377 C T het . 3 +intronic CLCN7 chr16 1505599 1505599 C T het . 3 +intronic CLCN7 chr16 1507832 1507832 C A het . 6 +intronic CLCN7 chr16 1507842 1507843 CG TC het . 7 +exonic PTX4 chr16 1537693 1537693 C A het . 2 +intronic TELO2 chr16 1549344 1549344 C - het . 10 +intronic IFT140 chr16 1567369 1567369 G A het . 2 +intronic IFT140 chr16 1573810 1573810 A G het . 3 +exonic IFT140 chr16 1574863 1574863 G A het . 4 +intronic IFT140 chr16 1606739 1606739 A G het . 2 +ncRNA_intronic LOC105371046 chr16 1652614 1652614 T A het . 4 +ncRNA_intronic LOC105371046 chr16 1657350 1657350 A T het . 4 +intronic MAPK8IP3 chr16 1818680 1818680 G C het . 3 +intronic FAHD1,MEIOB chr16 1887888 1887888 T - het . 11 +intronic MEIOB chr16 1891682 1891682 C T het . 2 +exonic HS3ST6 chr16 1962046 1962047 CG TA het . 1 +UTR5 MSRB1(NM_016332:c.-92G>T) chr16 1993249 1993249 C A het . 4 +UTR5 MSRB1(NM_016332:c.-101C>G) chr16 1993258 1993258 G C het . 4 +downstream RPL3L(dist=164) chr16 1994416 1994416 C A het . 2 +intronic NDUFB10 chr16 2011681 2011681 G C het . 3 +exonic GFER chr16 2035991 2035991 C A het . 20 +exonic NPW chr16 2070200 2070200 G C het . 11 +intronic RAB26 chr16 2201270 2201270 G C het . 7 +intronic CASKIN1 chr16 2239382 2239382 G T het . 2 +intronic CASKIN1 chr16 2239402 2239402 C T het . 2 +exonic BRICD5 chr16 2260567 2260567 C T het . 6 +exonic BRICD5 chr16 2260612 2260612 T C het . 5 +intronic ECI1 chr16 2290224 2290224 A T het . 5 +intronic CCNF chr16 2485668 2485685 ATATATATATATATATAT - het . 3 +intronic CCNF chr16 2488211 2488211 T C het . 4 +intronic CCNF chr16 2499011 2499011 T C het . 3 +intronic KCTD5 chr16 2747857 2747857 C T het . 19 +intergenic PRSS27(dist=9100),SRRM2-AS1(dist=7425) chr16 2779652 2779652 - AAC het . 4 +exonic SRRM2 chr16 2812647 2812647 C T het . 25 +exonic SRRM2 chr16 2818161 2818161 T C het . 15 +UTR3 SRRM2(NM_016333:c.*429A>C) chr16 2821297 2821297 A C het . 15 +intronic ELOB chr16 2825594 2825594 A G het . 6 +intergenic ELOB(dist=4206),PRSS33(dist=2451) chr16 2831503 2831503 - TCTC het . 1 +intronic PRSS41 chr16 2854907 2854907 C T het . 5 +intergenic ZG16B(dist=2544),PRSS30P(dist=4745) chr16 2884829 2884829 T G het . 2 +intergenic ZG16B(dist=2553),PRSS30P(dist=4736) chr16 2884838 2884838 G A het . 2 +intergenic ZG16B(dist=2573),PRSS30P(dist=4716) chr16 2884858 2884858 G T het . 2 +intergenic ZG16B(dist=2580),PRSS30P(dist=4709) chr16 2884865 2884865 T A het . 2 +intergenic PRSS30P(dist=8459),PRSS22(dist=1517) chr16 2901211 2901211 A - het . 2 +intronic PRSS22 chr16 2906934 2906934 G A het . 5 +intronic FLYWCH1 chr16 2966684 2966684 T A het . 3 +intronic MMP25 chr16 3098640 3098640 G T het . 2 +intergenic IL32(dist=6871),ZSCAN10(dist=12200) chr16 3126691 3126691 A C het . 2 +intergenic IL32(dist=6879),ZSCAN10(dist=12192) chr16 3126699 3126699 G A het . 2 +intergenic IL32(dist=6895),ZSCAN10(dist=12176) chr16 3126715 3126715 G - het . 2 +intergenic IL32(dist=7628),ZSCAN10(dist=11443) chr16 3127448 3127448 T C het . 2 +intergenic IL32(dist=8608),ZSCAN10(dist=10463) chr16 3128428 3128428 C G het . 2 +exonic ZSCAN10 chr16 3139800 3139800 C T het . 13 +exonic ZSCAN10 chr16 3140240 3140240 T G het . 13 +upstream;downstream CASP16P(dist=717);ZNF213(dist=770) chr16 3193575 3193575 A T het . 1 +intergenic CASP16P(dist=15610),OR1F1(dist=38690) chr16 3215557 3215557 G A het . 6 +intergenic CASP16P(dist=17968),OR1F1(dist=36332) chr16 3217915 3217915 T C het . 3 +intergenic CASP16P(dist=40001),OR1F1(dist=14299) chr16 3239948 3239948 T C het . 5 +exonic OR1F1 chr16 3254470 3254470 T C het . 38 +exonic MEFV chr16 3293200 3293200 C A het . 22 +intergenic ZNF75A(dist=32592),OR2C1(dist=4721) chr16 3401168 3401168 T A het . 6 +upstream OR2C1(dist=383) chr16 3405506 3405506 G A het . 4 +intergenic OR2C1(dist=11563),MTRNR2L4(dist=2566) chr16 3418487 3418487 G A het . 1 +intergenic ZNF174(dist=5347),ZNF597(dist=17709) chr16 3464713 3464713 A G het . 2 +intergenic ZNF174(dist=5611),ZNF597(dist=17445) chr16 3464977 3464977 G T het . 2 +exonic C16orf90 chr16 3544580 3544580 C T het . 9 +exonic CLUAP1 chr16 3576473 3576473 T C het . 18 +intronic SLX4 chr16 3648150 3648150 G T het . 5 +intronic TRAP1 chr16 3730236 3730236 A - het . 2 +intronic CREBBP chr16 3781979 3781979 C T het . 37 +intronic CREBBP chr16 3807731 3807731 G A het . 14 +exonic CREBBP chr16 3817902 3817902 C A het . 56 +intronic CREBBP chr16 3903991 3903991 G A het . 4 +intergenic CREBBP(dist=19817),LOC102724927(dist=47688) chr16 3949938 3949938 - AAG het . 2 +intergenic CREBBP(dist=44555),LOC102724927(dist=22947) chr16 3974676 3974679 AAAT - het . 2 +intergenic LOC102724927(dist=1987),ADCY9(dist=10218) chr16 4002432 4002432 T C het . 2 +exonic ADCY9 chr16 4016786 4016786 G A het . 17 +intronic ADCY9 chr16 4017566 4017567 TT AA het . 4 +intronic ADCY9 chr16 4042449 4042449 C T het . 2 +intronic ADCY9 chr16 4065976 4065976 T A het . 2 +intronic ADCY9 chr16 4065992 4065992 C A het . 2 +intronic ADCY9 chr16 4072240 4072240 C T het . 2 +intronic ADCY9 chr16 4078744 4078744 G T het . 3 +intronic ADCY9 chr16 4160538 4160538 A G het . 3 +intergenic ADCY9(dist=37573),SRL(dist=35616) chr16 4203759 4203759 A - het . 2 +intronic TFAP4 chr16 4309955 4309955 A C het . 3 +intronic TFAP4 chr16 4311286 4311286 T - het . 3 +intergenic TFAP4(dist=9857),GLIS2(dist=31904) chr16 4332858 4332858 C T het . 2 +exonic GLIS2 chr16 4386991 4386991 T C het . 17 +intronic CORO7-PAM16,PAM16 chr16 4391004 4391004 C A het . 22 +intronic CORO7-PAM16,PAM16 chr16 4392656 4392656 - A het . 3 +exonic CORO7-PAM16,PAM16 chr16 4393224 4393224 C A het . 23 +intronic CORO7,CORO7-PAM16 chr16 4411354 4411354 C T het . 2 +intronic CORO7,CORO7-PAM16 chr16 4411885 4411885 C A het . 13 +exonic VASN chr16 4431478 4431478 T G het . 23 +intronic CORO7,CORO7-PAM16 chr16 4439209 4439209 G A het . 3 +intronic CORO7,CORO7-PAM16 chr16 4463447 4463447 T G het . 9 +intergenic CORO7-PAM16(dist=2322),DNAJA3(dist=6522) chr16 4469284 4469284 T C het . 3 +intronic DNAJA3 chr16 4494549 4494549 A G het . 4 +intronic HMOX2 chr16 4538114 4538114 G A het . 2 +intronic HMOX2 chr16 4541390 4541390 C G het . 3 +intronic C16orf96 chr16 4612837 4612837 G A het . 14 +intronic C16orf96 chr16 4612839 4612839 G T het . 15 +intronic C16orf96 chr16 4621726 4621726 A - het . 6 +intronic C16orf96 chr16 4629205 4629205 T - het . 5 +intronic C16orf96 chr16 4641815 4641815 G - het . 18 +intergenic C16orf96(dist=5399),UBALD1(dist=3167) chr16 4655717 4655717 G A het . 2 +intronic MGRN1 chr16 4701850 4701850 T C het . 3 +intronic MGRN1 chr16 4722201 4722201 A G het . 3 +UTR3 MGRN1(NM_001142291:c.*16C>T,NM_001142290:c.*16C>T) chr16 4736316 4736316 C T het . 7 +intronic C16orf71 chr16 4790059 4790059 - A het . 5 +intronic C16orf71 chr16 4790078 4790078 C A het . 5 +intronic C16orf71 chr16 4793018 4793018 A C het . 12 +exonic C16orf71 chr16 4796393 4796393 A G het . 6 +exonic C16orf71 chr16 4796418 4796418 G A het . 12 +intronic ZNF500 chr16 4808183 4808183 G A het . 3 +intronic ZNF500 chr16 4808201 4808201 A - het . 1 +intronic ZNF500 chr16 4811857 4811857 - AAAC het . 4 +intronic ZNF500 chr16 4811891 4811891 C A het . 4 +intronic ZNF500 chr16 4815425 4815425 T C het . 1 +intronic ZNF500 chr16 4815526 4815526 C T het . 5 +intronic SEPT12 chr16 4834771 4834774 TAAA - het . 2 +intronic SEPT12 chr16 4835793 4835794 AG GA het . 9 +intronic SEPT12 chr16 4835794 4835794 - A het . 16 +intronic SMIM22 chr16 4846068 4846068 T C het . 7 +intronic ROGDI chr16 4847640 4847641 GT AC het . 3 +intronic GLYR1 chr16 4860792 4860797 AAAAGA - het . 9 +intronic GLYR1 chr16 4864457 4864457 G A het . 10 +intronic GLYR1 chr16 4873931 4873931 T A het . 4 +intronic GLYR1 chr16 4877593 4877593 C A het . 2 +intronic GLYR1 chr16 4884368 4884368 G C het . 5 +intronic GLYR1 chr16 4896433 4896433 C G het . 2 +intronic UBN1 chr16 4904341 4904341 - TTG het . 3 +intronic PPL chr16 4942006 4942006 C A het . 13 +intronic PPL chr16 4968330 4968330 C T het . 2 +splicing SEC14L5(NM_014692:exon9:c.971-1G>C) chr16 5050655 5050655 G C het . 11 +intronic SEC14L5 chr16 5061085 5061085 A C het . 6 +intronic C16orf89 chr16 5105440 5105440 T C het . 8 +intronic ALG1 chr16 5122072 5122072 - GTCT het . 18 +intronic ALG1 chr16 5124079 5124079 C T het . 2 +intronic ALG1 chr16 5127721 5127721 G T het . 4 +intronic ALG1 chr16 5129690 5129690 A - het . 24 +intergenic EEF2KMT(dist=80369),LINC01570(dist=422980) chr16 5228190 5228190 G A het . 1 +intergenic EEF2KMT(dist=83021),LINC01570(dist=420328) chr16 5230842 5230842 C T het . 5 +intergenic EEF2KMT(dist=115779),LINC01570(dist=387570) chr16 5263600 5263600 C T het . 2 +intergenic EEF2KMT(dist=186712),LINC01570(dist=316637) chr16 5334533 5334533 - T het . 2 +intergenic EEF2KMT(dist=241630),LINC01570(dist=261719) chr16 5389451 5389451 C T het . 2 +intergenic EEF2KMT(dist=268487),LINC01570(dist=234862) chr16 5416308 5416308 A G het . 10 +intergenic EEF2KMT(dist=268492),LINC01570(dist=234857) chr16 5416313 5416313 G A het . 11 +intergenic EEF2KMT(dist=268634),LINC01570(dist=234715) chr16 5416455 5416455 T C het . 19 +intergenic EEF2KMT(dist=270849),LINC01570(dist=232500) chr16 5418670 5418670 C T het . 2 +intergenic EEF2KMT(dist=369354),LINC01570(dist=133995) chr16 5517175 5517175 - TC het . 7 +intergenic EEF2KMT(dist=431752),LINC01570(dist=71597) chr16 5579573 5579573 T - het . 4 +intergenic MIR8065(dist=71669),RBFOX1(dist=314789) chr16 5754236 5754236 A G het . 2 +intergenic MIR8065(dist=81085),RBFOX1(dist=305373) chr16 5763652 5763652 C T het . 2 +intergenic MIR8065(dist=183488),RBFOX1(dist=202970) chr16 5866055 5866055 T C het . 1 +intergenic MIR8065(dist=235139),RBFOX1(dist=151319) chr16 5917706 5917706 C G het . 2 +intergenic MIR8065(dist=272482),RBFOX1(dist=113976) chr16 5955049 5955049 C G het . 2 +intronic RBFOX1 chr16 6104240 6104240 T A het . 3 +intronic RBFOX1 chr16 6117351 6117351 T C het . 12 +intronic RBFOX1 chr16 6117380 6117380 C - het . 6 +intronic RBFOX1 chr16 6117384 6117384 C A het . 6 +intronic RBFOX1 chr16 6134527 6134527 A G het . 2 +intronic RBFOX1 chr16 6134549 6134549 C A het . 2 +intronic RBFOX1 chr16 6147082 6147082 T C het . 1 +intronic RBFOX1 chr16 6234392 6234392 C G het . 2 +intronic RBFOX1 chr16 6234399 6234399 G A het . 2 +intronic RBFOX1 chr16 6262708 6262708 - C het . 3 +intronic RBFOX1 chr16 6262709 6262709 - AAC het . 3 +intronic RBFOX1 chr16 6275531 6275531 C T het . 3 +intronic RBFOX1 chr16 6303301 6303301 C G het . 2 +intronic RBFOX1 chr16 6303353 6303353 A G het . 3 +intronic RBFOX1 chr16 6305102 6305102 C A het . 2 +intronic RBFOX1 chr16 6367279 6367279 T G het . 2 +intronic RBFOX1 chr16 6374179 6374179 A G het . 1 +intronic RBFOX1 chr16 6449354 6449354 T C het . 1 +intronic RBFOX1 chr16 6449363 6449363 C T het . 1 +intronic RBFOX1 chr16 6505208 6505208 C T het . 2 +intronic RBFOX1 chr16 6545229 6545229 T C het . 3 +intronic RBFOX1 chr16 6597177 6597177 C A het . 1 +intronic RBFOX1 chr16 6635231 6635231 T C het . 1 +intronic RBFOX1 chr16 6678811 6678811 A G het . 3 +intronic RBFOX1 chr16 6758307 6758307 T A het . 2 +intronic RBFOX1 chr16 6758340 6758340 A G het . 2 +intronic RBFOX1 chr16 6781135 6781135 G A het . 1 +intronic RBFOX1 chr16 6828279 6828279 G A het . 3 +intronic RBFOX1 chr16 6828317 6828317 T A het . 2 +intronic RBFOX1 chr16 6896004 6896004 T C het . 2 +intronic RBFOX1 chr16 6926365 6926365 T C het . 3 +intronic RBFOX1 chr16 6936758 6936763 AAAAAC - het . 2 +intronic RBFOX1 chr16 6976008 6976008 C G het . 4 +intronic RBFOX1 chr16 7020211 7020211 C G het . 5 +intronic RBFOX1 chr16 7030922 7030922 T C het . 1 +intronic RBFOX1 chr16 7034252 7034252 C G het . 2 +intronic RBFOX1 chr16 7145117 7145117 T C het . 2 +intronic RBFOX1 chr16 7145140 7145140 A T het . 3 +intronic RBFOX1 chr16 7194412 7194412 - TTC het . 2 +intronic RBFOX1 chr16 7273828 7273829 TT - het . 2 +intronic RBFOX1 chr16 7280276 7280276 A G het . 4 +intronic RBFOX1 chr16 7280317 7280317 A G het . 2 +intronic RBFOX1 chr16 7363474 7363474 G T het . 2 +intronic RBFOX1 chr16 7363476 7363476 - T het . 2 +intronic RBFOX1 chr16 7451239 7451239 G T het . 1 +intronic RBFOX1 chr16 7532478 7532478 G C het . 2 +intronic RBFOX1 chr16 7532496 7532496 G T het . 2 +intronic RBFOX1 chr16 7563288 7563289 TG - het . 3 +intronic RBFOX1 chr16 7563292 7563293 TG GT het . 4 +intronic RBFOX1 chr16 7603145 7603145 T G het . 2 +intronic RBFOX1 chr16 7680585 7680586 TC - het . 9 +intronic RBFOX1 chr16 7686849 7686849 - AC het . 4 +intronic RBFOX1 chr16 7733809 7733809 G A het . 1 +intronic RBFOX1 chr16 7736154 7736154 C T het . 1 +intronic RBFOX1 chr16 7741489 7741489 G C het . 2 +intergenic RBFOX1(dist=18521),TMEM114(dist=805705) chr16 7781866 7781866 G A het . 3 +intergenic RBFOX1(dist=48820),TMEM114(dist=775406) chr16 7812165 7812165 C G het . 1 +intergenic RBFOX1(dist=48833),TMEM114(dist=775393) chr16 7812178 7812178 G A het . 1 +intergenic RBFOX1(dist=48844),TMEM114(dist=775382) chr16 7812189 7812189 C A het . 1 +intergenic RBFOX1(dist=191312),TMEM114(dist=632914) chr16 7954657 7954657 - T het . 4 +intergenic RBFOX1(dist=305795),TMEM114(dist=518431) chr16 8069140 8069140 A T het . 2 +intergenic RBFOX1(dist=330080),TMEM114(dist=494146) chr16 8093425 8093425 G A het . 5 +intergenic RBFOX1(dist=330085),TMEM114(dist=494141) chr16 8093430 8093430 G A het . 5 +intergenic RBFOX1(dist=347945),TMEM114(dist=476281) chr16 8111290 8111290 A G het . 2 +intergenic RBFOX1(dist=568716),TMEM114(dist=255510) chr16 8332061 8332061 A G het . 2 +intergenic RBFOX1(dist=717487),TMEM114(dist=106739) chr16 8480832 8480832 T C het . 1 +intergenic RBFOX1(dist=791001),TMEM114(dist=33225) chr16 8554346 8554346 - T het . 2 +intergenic TMEM114(dist=18114),TMEM114(dist=13560) chr16 8605942 8605942 G C het . 1 +intergenic TMEM114(dist=18120),TMEM114(dist=13554) chr16 8605948 8605948 A C het . 1 +intronic METTL22 chr16 8730482 8730482 C G het . 1 +intronic METTL22 chr16 8735200 8735200 G A het . 27 +intronic METTL22 chr16 8735212 8735212 T C het . 30 +exonic METTL22 chr16 8736330 8736330 C T het . 20 +intronic METTL22 chr16 8736499 8736499 C T het . 9 +intronic METTL22 chr16 8739491 8739491 T C het . 2 +intronic METTL22 chr16 8739494 8739494 A G het . 2 +intronic METTL22 chr16 8739822 8739822 C T het . 1 +downstream METTL22(dist=574) chr16 8740653 8740653 C T het . 6 +intergenic METTL22(dist=4825),ABAT(dist=23540) chr16 8744904 8744904 G A het . 3 +intergenic METTL22(dist=6456),ABAT(dist=21909) chr16 8746535 8746535 T A het . 1 +intergenic METTL22(dist=6466),ABAT(dist=21899) chr16 8746545 8746545 - T het . 2 +intergenic METTL22(dist=13941),ABAT(dist=14424) chr16 8754020 8754020 T G het . 2 +intergenic METTL22(dist=13957),ABAT(dist=14405) chr16 8754036 8754039 TTTG - het . 2 +intergenic METTL22(dist=15883),ABAT(dist=12482) chr16 8755962 8755962 A G het . 3 +intergenic METTL22(dist=15896),ABAT(dist=12469) chr16 8755975 8755975 C T het . 3 +intronic ABAT chr16 8778557 8778557 A G het . 4 +intronic ABAT chr16 8822002 8822002 G T het . 2 +intronic ABAT chr16 8822021 8822021 A G het . 3 +intronic ABAT chr16 8822044 8822044 G A het . 3 +intronic ABAT chr16 8841960 8841960 T C het . 37 +intronic ABAT chr16 8858700 8858700 - CA het . 9 +exonic ABAT chr16 8862722 8862722 C A het . 41 +downstream ABAT(dist=867) chr16 8879299 8879299 T A het . 5 +downstream ABAT(dist=881) chr16 8879313 8879313 T A het . 5 +intronic TMEM186 chr16 8891312 8891312 A - het . 2 +intronic PMM2 chr16 8904877 8904877 - ATG het . 24 +intronic PMM2 chr16 8907464 8907464 G A het . 1 +ncRNA_intronic LOC100130283 chr16 8945828 8945828 A - het . 2 +UTR5 CARHSP1(NM_001042476:c.-9067T>C) chr16 8962252 8962252 A G het . 1 +intergenic CARHSP1(dist=10276),USP7(dist=12806) chr16 8973145 8973145 T C het . 2 +intronic USP7 chr16 8989697 8989700 TTTT - het . 3 +intronic USP7 chr16 8995178 8995180 AAA - het . 11 +intronic USP7 chr16 9010308 9010308 T C het . 10 +intronic USP7 chr16 9020011 9020011 A - het . 2 +intergenic USP7(dist=23022),C16orf72(dist=105174) chr16 9080363 9080363 - T het . 4 +intergenic USP7(dist=34430),C16orf72(dist=93766) chr16 9091771 9091771 T - het . 3 +intergenic USP7(dist=49488),C16orf72(dist=78708) chr16 9106829 9106829 T - het . 3 +intergenic USP7(dist=49500),C16orf72(dist=78696) chr16 9106841 9106841 T C het . 3 +intergenic USP7(dist=71615),C16orf72(dist=56581) chr16 9128956 9128956 C A het . 1 +exonic C16orf72 chr16 9186057 9186057 C A het . 37 +intergenic C16orf72(dist=37258),LINC02177(dist=198632) chr16 9250813 9250813 T - het . 17 +intergenic C16orf72(dist=106237),LINC02177(dist=129653) chr16 9319792 9319792 G C het . 3 +intergenic C16orf72(dist=131194),LINC02177(dist=104696) chr16 9344749 9344749 A G het . 2 +intergenic C16orf72(dist=142756),LINC02177(dist=93134) chr16 9356311 9356311 T G het . 2 +intergenic C16orf72(dist=163715),LINC02177(dist=72174) chr16 9377270 9377271 TC - het . 2 +intergenic C16orf72(dist=175982),LINC02177(dist=59908) chr16 9389537 9389537 - A het . 2 +intergenic LINC02177(dist=14162),LINC01177(dist=19039) chr16 9516112 9516112 C G het . 2 +intergenic LINC02177(dist=14165),LINC01177(dist=19036) chr16 9516115 9516115 A T het . 2 +intergenic LINC01195(dist=22972),GRIN2A(dist=274928) chr16 9572334 9572334 - T het . 2 +intergenic LINC01195(dist=73804),GRIN2A(dist=224096) chr16 9623166 9623166 C A het . 1 +intergenic LINC01195(dist=159346),GRIN2A(dist=138554) chr16 9708708 9708708 G T het . 1 +intergenic LINC01195(dist=189599),GRIN2A(dist=108301) chr16 9738961 9738961 C A het . 1 +intergenic LINC01195(dist=282776),GRIN2A(dist=15124) chr16 9832138 9832138 C A het . 2 +intronic GRIN2A chr16 9945345 9945346 CC TT het . 2 +intronic GRIN2A chr16 9988827 9988827 C T het . 3 +intronic GRIN2A chr16 9992648 9992648 T - het . 3 +intronic GRIN2A chr16 10052915 10052915 G A het . 2 +intronic GRIN2A chr16 10113952 10113952 A G het . 2 +intronic GRIN2A chr16 10120807 10120807 A G het . 2 +intronic GRIN2A chr16 10126473 10126473 C T het . 2 +intronic GRIN2A chr16 10192976 10192976 C A het . 1 +intronic GRIN2A chr16 10267120 10267120 G A het . 1 +exonic GRIN2A chr16 10274074 10274074 C A het . 38 +intergenic GRIN2A(dist=2223),ATF7IP2(dist=201022) chr16 10278834 10278834 T G het . 3 +intergenic GRIN2A(dist=2712),ATF7IP2(dist=200533) chr16 10279323 10279323 C T het . 1 +intergenic GRIN2A(dist=3924),ATF7IP2(dist=199321) chr16 10280535 10280535 C T het . 1 +intergenic GRIN2A(dist=11968),ATF7IP2(dist=191277) chr16 10288579 10288579 A G het . 2 +intergenic GRIN2A(dist=65907),ATF7IP2(dist=137338) chr16 10342518 10342518 G A het . 2 +intergenic GRIN2A(dist=66030),ATF7IP2(dist=137210) chr16 10342641 10342646 TGTTTG - het . 7 +intergenic GRIN2A(dist=66031),ATF7IP2(dist=137210) chr16 10342642 10342646 GTTTG - het . 7 +intergenic GRIN2A(dist=109374),ATF7IP2(dist=93871) chr16 10385985 10385985 C - het . 2 +intergenic GRIN2A(dist=147265),ATF7IP2(dist=55976) chr16 10423876 10423880 TTTCT - het . 1 +intergenic GRIN2A(dist=186865),ATF7IP2(dist=16380) chr16 10463476 10463476 C T het . 3 +intergenic GRIN2A(dist=186876),ATF7IP2(dist=16369) chr16 10463487 10463487 C T het . 3 +intergenic GRIN2A(dist=190263),ATF7IP2(dist=12982) chr16 10466874 10466874 G A het . 3 +intronic ATF7IP2 chr16 10519750 10519750 - A het . 3 +exonic ATF7IP2 chr16 10524657 10524659 GAC - het . 61 +intronic ATF7IP2 chr16 10525773 10525773 T C het . 1 +intronic ATF7IP2 chr16 10547476 10547476 G T het . 1 +intronic ATF7IP2 chr16 10567752 10567753 TT - het . 10 +ncRNA_intronic LINC01290 chr16 10621598 10621598 - TC het . 4 +ncRNA_intronic LINC01290 chr16 10621601 10621601 G C het . 4 +ncRNA_intronic LINC01290 chr16 10621603 10621603 A - het . 4 +ncRNA_intronic LINC01290 chr16 10621607 10621607 G A het . 4 +intronic TEKT5 chr16 10748693 10748693 G C het . 2 +intronic TEKT5 chr16 10774378 10774378 G A het . 4 +intronic TEKT5 chr16 10783089 10783089 A - het . 15 +intergenic TEKT5(dist=16247),NUBP1(dist=32594) chr16 10805049 10805049 T C het . 2 +intergenic TVP23A(dist=22498),CIITA(dist=35906) chr16 10935149 10935149 T C het . 21 +intergenic TVP23A(dist=22516),CIITA(dist=35888) chr16 10935167 10935167 - T het . 24 +intergenic TVP23A(dist=22517),CIITA(dist=35887) chr16 10935168 10935168 C T het . 24 +intergenic TVP23A(dist=26083),CIITA(dist=32321) chr16 10938734 10938734 G C het . 17 +intronic CIITA chr16 10997480 10997480 C T het . 4 +intronic CIITA chr16 11007132 11007135 CTTT - het . 3 +intronic CLEC16A chr16 11058692 11058692 G C het . 3 +intronic CLEC16A chr16 11066724 11066724 - T het . 9 +intronic CLEC16A chr16 11073153 11073154 TC - het . 11 +intronic CLEC16A chr16 11085968 11085968 C T het . 1 +intronic CLEC16A chr16 11138812 11138812 G A het . 2 +intronic CLEC16A chr16 11161013 11161013 - T het . 2 +intronic CLEC16A chr16 11170761 11170761 C T het . 1 +intronic CLEC16A chr16 11257329 11257329 G A het . 5 +intronic CLEC16A chr16 11257345 11257348 TTTG - het . 5 +intergenic CLEC16A(dist=40792),SOCS1(dist=31436) chr16 11316838 11316838 G C het . 1 +intergenic CLEC16A(dist=45244),SOCS1(dist=26984) chr16 11321290 11321290 C T het . 3 +intergenic SOCS1(dist=2274),TNP2(dist=9401) chr16 11352313 11352313 A T het . 2 +exonic PRM1 chr16 11374866 11374866 G T het . 48 +intergenic PRM1(dist=51207),LOC105371083(dist=9267) chr16 11426399 11426399 C A het . 2 +intergenic PRM1(dist=51218),LOC105371083(dist=9256) chr16 11426410 11426410 C A het . 2 +intergenic RMI2(dist=60092),LOC101927131(dist=53404) chr16 11505712 11505712 T - het . 2 +intergenic RMI2(dist=74844),LOC101927131(dist=38652) chr16 11520464 11520464 - A het . 2 +intergenic RMI2(dist=91727),LOC101927131(dist=21769) chr16 11537347 11537347 - AGAGAGAG het . 3 +intergenic RMI2(dist=109247),LOC101927131(dist=4249) chr16 11554867 11554867 C T het . 13 +UTR3 LITAF(NM_001136472:c.*1048_*1047delAA,NM_001136473:c.*1173_*1172delAA,NM_004862:c.*1048_*1047delAA) chr16 11642445 11642446 TT - het . 23 +intronic LITAF chr16 11661961 11661961 C T het . 2 +intergenic LITAF(dist=1574),SNN(dist=79909) chr16 11682380 11682380 A G het . 3 +intergenic LITAF(dist=68059),SNN(dist=13424) chr16 11748865 11748865 A - het . 3 +intergenic LITAF(dist=69653),SNN(dist=11830) chr16 11750459 11750459 - TTTCTTTC het . 2 +exonic SNN chr16 11769948 11769948 C T het . 15 +exonic SNN chr16 11769963 11769963 C T het . 17 +intronic TXNDC11 chr16 11828018 11828018 A G het . 20 +intronic ZC3H7A chr16 11850061 11850061 C A het . 10 +ncRNA_exonic BCAR4 chr16 11913848 11913848 T A het . 12 +ncRNA_intronic BCAR4 chr16 11922057 11922057 A T het . 2 +exonic RSL1D1 chr16 11933743 11933743 C A het . 51 +intronic RSL1D1 chr16 11935685 11935689 AAAGA - het . 27 +intergenic RSL1D1(dist=9848),GSPT1(dist=6695) chr16 11955290 11955290 C T het . 2 +intronic GSPT1 chr16 11986371 11986371 C A het . 1 +intronic GSPT1 chr16 12008749 12008749 G A het . 8 +exonic NPIPB2 chr16 12021284 12021284 C T het . 38 +exonic NPIPB2 chr16 12021292 12021292 A G het . 39 +exonic NPIPB2 chr16 12021296 12021298 TGG - het . 38 +exonic NPIPB2 chr16 12021332 12021332 G A het . 35 +intronic NPIPB2 chr16 12031390 12031390 C T het . 4 +intronic SNX29 chr16 12081100 12081100 A T het . 1 +intronic SNX29 chr16 12145684 12145684 T - het . 15 +intronic SNX29 chr16 12181652 12181652 G A het . 14 +intronic SNX29 chr16 12229268 12229268 A C het . 8 +intronic SNX29 chr16 12367200 12367201 TT - het . 10 +exonic SNX29 chr16 12371885 12371885 C A het . 25 +intronic SNX29 chr16 12371915 12371915 T C het . 19 +intronic SNX29 chr16 12507745 12507745 T - het . 1 +intronic SNX29 chr16 12507747 12507747 G A het . 1 +intronic SNX29 chr16 12536703 12536703 A G het . 14 +intronic SNX29 chr16 12649631 12649631 A G het . 1 +intergenic SNX29(dist=2852),CPPED1(dist=82658) chr16 12670998 12670998 C T het . 1 +intergenic SNX29(dist=5284),CPPED1(dist=80226) chr16 12673430 12673430 A G het . 2 +intergenic SNX29(dist=5549),CPPED1(dist=79956) chr16 12673695 12673700 TTTCTC - het . 3 +intergenic SNX29(dist=5589),CPPED1(dist=79921) chr16 12673735 12673735 C G het . 2 +intergenic SNX29(dist=5594),CPPED1(dist=79916) chr16 12673740 12673740 T C het . 2 +intergenic SNX29(dist=45530),CPPED1(dist=39980) chr16 12713676 12713676 G A het . 2 +intergenic SNX29(dist=77116),CPPED1(dist=8393) chr16 12745262 12745263 AA - het . 3 +intergenic SNX29(dist=79866),CPPED1(dist=5641) chr16 12748012 12748015 TTTC - het . 3 +intronic CPPED1 chr16 12807223 12807223 T A het . 2 +intronic CPPED1 chr16 12844859 12844859 C A het . 2 +intergenic CPPED1(dist=13683),SHISA9(dist=84050) chr16 12911427 12911427 C G het . 1 +intergenic CPPED1(dist=68172),SHISA9(dist=29561) chr16 12965916 12965916 - TCT het . 2 +intergenic CPPED1(dist=86731),SHISA9(dist=10995) chr16 12984475 12984482 TTTGTTTG - het . 4 +intronic SHISA9 chr16 13109823 13109823 C T het . 2 +intronic SHISA9 chr16 13146778 13146778 C A het . 3 +intronic SHISA9 chr16 13269967 13269967 A T het . 3 +intronic SHISA9 chr16 13286821 13286821 A G het . 2 +intronic SHISA9 chr16 13311152 13311152 - AATT het . 2 +intergenic SHISA9(dist=23031),ERCC4(dist=656710) chr16 13357304 13357304 G T het . 2 +intergenic SHISA9(dist=23055),ERCC4(dist=656686) chr16 13357328 13357328 A G het . 3 +intergenic SHISA9(dist=182303),ERCC4(dist=497435) chr16 13516576 13516579 AAAC - het . 3 +intergenic SHISA9(dist=182332),ERCC4(dist=497409) chr16 13516605 13516605 A C het . 3 +intergenic SHISA9(dist=204002),ERCC4(dist=475736) chr16 13538275 13538278 AGGA - het . 2 +intergenic SHISA9(dist=209094),ERCC4(dist=470647) chr16 13543367 13543367 T C het . 2 +intergenic SHISA9(dist=279046),ERCC4(dist=400695) chr16 13613319 13613319 A G het . 2 +intergenic SHISA9(dist=289607),ERCC4(dist=390134) chr16 13623880 13623880 G A het . 1 +intergenic SHISA9(dist=401639),ERCC4(dist=278102) chr16 13735912 13735912 A G het . 2 +intergenic SHISA9(dist=480200),ERCC4(dist=199541) chr16 13814473 13814473 C T het . 2 +intergenic SHISA9(dist=487113),ERCC4(dist=192628) chr16 13821386 13821386 C T het . 1 +intergenic SHISA9(dist=498451),ERCC4(dist=181290) chr16 13832724 13832724 - A het . 3 +intergenic SHISA9(dist=498458),ERCC4(dist=181283) chr16 13832731 13832731 T - het . 3 +intergenic SHISA9(dist=504750),ERCC4(dist=174991) chr16 13839023 13839023 C A het . 1 +intergenic SHISA9(dist=534796),ERCC4(dist=144945) chr16 13869069 13869069 A G het . 2 +intergenic SHISA9(dist=557446),ERCC4(dist=122294) chr16 13891719 13891720 AA - het . 3 +intergenic SHISA9(dist=557450),ERCC4(dist=122286) chr16 13891723 13891728 AAAGAA - het . 3 +intergenic SHISA9(dist=642748),ERCC4(dist=36993) chr16 13977021 13977021 - C het . 2 +intronic ERCC4 chr16 14041273 14041273 C A het . 6 +intergenic ERCC4(dist=17172),LINC02185(dist=39756) chr16 14063377 14063377 C T het . 2 +intergenic LINC02186(dist=13590),MRTFB(dist=36646) chr16 14128524 14128524 C T het . 3 +intergenic MRTFB(dist=1983),MIR193BHG(dist=33526) chr16 14362619 14362619 C A het . 4 +intergenic MIR193BHG(dist=7801),LINC02130(dist=28790) chr16 14428175 14428176 AA - het . 3 +exonic PARN chr16 14530581 14530581 G A het . 14 +intronic PARN chr16 14551458 14551458 C T het . 3 +intronic PARN chr16 14606572 14606572 T G het . 2 +exonic PARN chr16 14649532 14649532 G C het . 23 +intronic PARN chr16 14674525 14674525 T - het . 6 +intronic PARN chr16 14678053 14678053 A G het . 5 +intronic PARN chr16 14687144 14687144 A G het . 11 +intronic BFAR chr16 14739723 14739723 C T het . 2 +intronic NOMO1 chr16 14975292 14975292 A G het . 5 +intergenic PKD1P3-NPIPA1(dist=8539),PDXDC1(dist=14136) chr16 15054456 15054456 T - het . 3 +intergenic PKD1P3-NPIPA1(dist=12190),PDXDC1(dist=10485) chr16 15058107 15058107 A G het . 2 +intronic PDXDC1 chr16 15113418 15113418 C T het . 2 +intronic PDXDC1 chr16 15127310 15127310 A G het . 3 +intronic NTAN1,PDXDC1 chr16 15147725 15147725 T C het . 3 +intronic PDXDC1 chr16 15153717 15153717 T C het . 2 +intronic PDXDC1 chr16 15153728 15153728 G T het . 1 +intronic PDXDC1,RRN3 chr16 15169447 15169450 AAAG - het . 2 +exonic RRN3 chr16 15173945 15173945 G A het . 6 +intronic PDXDC1,RRN3 chr16 15177129 15177129 G A het . 4 +intronic PDXDC1,RRN3 chr16 15179613 15179613 A G het . 10 +intronic PDXDC1,RRN3 chr16 15180424 15180424 A C het . 3 +ncRNA_exonic PKD1P6-NPIPP1 chr16 15227543 15227543 C G het . 5 +intronic C16orf45 chr16 15532322 15532322 T - het . 2 +intronic C16orf45 chr16 15564391 15564392 TT - het . 2 +intronic C16orf45 chr16 15600045 15600045 A T het . 2 +intronic C16orf45 chr16 15631216 15631217 TT - het . 2 +intronic C16orf45 chr16 15641201 15641201 T - het . 2 +intronic MARF1 chr16 15727460 15727460 T - het . 16 +intronic NDE1 chr16 15758745 15758748 TTTT - het . 13 +intronic NDE1 chr16 15774782 15774782 G C het . 6 +intronic NDE1 chr16 15783796 15783796 A - het . 3 +intronic NDE1 chr16 15785504 15785504 - T het . 2 +intronic MYH11,NDE1 chr16 15808663 15808663 G A het . 4 +intronic MYH11 chr16 15843965 15843965 G A het . 3 +intronic MYH11 chr16 15886243 15886243 T C het . 1 +intronic MYH11 chr16 15892481 15892481 C A het . 11 +intronic MYH11 chr16 15902715 15902715 G A het . 2 +intronic MYH11 chr16 15926105 15926105 A G het . 2 +intronic MYH11 chr16 15932821 15932821 G A het . 3 +exonic FOPNL chr16 15961351 15961351 T C het . 19 +exonic FOPNL chr16 15961356 15961356 C T het . 20 +exonic FOPNL chr16 15961369 15961369 G A het . 18 +exonic FOPNL chr16 15967361 15967361 - CTA het . 20 +intronic FOPNL chr16 15973605 15973605 T C het . 5 +intronic FOPNL chr16 15973628 15973628 A G het . 8 +intergenic FOPNL(dist=3076),ABCC1(dist=57852) chr16 15985582 15985582 C T het . 1 +intergenic FOPNL(dist=39426),ABCC1(dist=21502) chr16 16021932 16021932 A G het . 2 +intronic ABCC1 chr16 16048157 16048157 G C het . 2 +intronic ABCC1 chr16 16127916 16127916 G T het . 2 +exonic ABCC1 chr16 16162019 16162019 T C het . 13 +intronic ABCC1 chr16 16190084 16190084 A - het . 4 +intronic ABCC1 chr16 16205141 16205141 A G het . 4 +intronic ABCC1 chr16 16205143 16205143 A G het . 4 +intronic ABCC1 chr16 16205161 16205161 G A het . 6 +intronic ABCC1 chr16 16205167 16205167 - TGGGGC het . 6 +intronic ABCC1 chr16 16205226 16205226 C A het . 19 +intronic ABCC1 chr16 16211166 16211166 T G het . 2 +intronic ABCC6 chr16 16253570 16253570 C T het . 10 +intronic ABCC6 chr16 16262174 16262174 C T het . 3 +intronic ABCC6 chr16 16264796 16264803 AAAGAAAG - het . 2 +intronic ABCC6 chr16 16265053 16265053 G T het . 1 +exonic ABCC6 chr16 16271357 16271357 T C het . 30 +intronic ABCC6 chr16 16279048 16279048 G C het . 2 +intronic ABCC6 chr16 16280921 16280921 T C het . 5 +intronic ABCC6 chr16 16282841 16282841 G - het . 4 +intronic ABCC6 chr16 16285500 16285504 CTTTT - het . 4 +intronic ABCC6 chr16 16285560 16285560 G T het . 2 +intergenic PKD1P4-NPIPA8(dist=429330),XYLT1(dist=279022) chr16 16917159 16917159 - TTCTTT het . 1 +intergenic PKD1P4-NPIPA8(dist=429378),XYLT1(dist=278974) chr16 16917207 16917207 T C het . 1 +intronic XYLT1 chr16 17209697 17209697 C G het . 2 +intronic XYLT1 chr16 17221755 17221755 T G het . 6 +ncRNA_intronic LOC102723692 chr16 17229199 17229199 A G het . 1 +intronic XYLT1 chr16 17319034 17319034 - CTCT het . 1 +intronic XYLT1 chr16 17365008 17365008 - TTTG het . 3 +intronic XYLT1 chr16 17410256 17410256 A T het . 2 +intronic XYLT1 chr16 17451988 17451988 T - het . 11 +intergenic XYLT1(dist=10327),PKD1P4-NPIPA8(dist=836711) chr16 17575065 17575065 C T het . 2 +intergenic XYLT1(dist=31999),PKD1P4-NPIPA8(dist=815039) chr16 17596737 17596737 A G het . 2 +intergenic XYLT1(dist=32125),PKD1P4-NPIPA8(dist=814913) chr16 17596863 17596863 A - het . 3 +intergenic XYLT1(dist=69970),PKD1P4-NPIPA8(dist=777068) chr16 17634708 17634708 A - het . 2 +intergenic XYLT1(dist=113304),PKD1P4-NPIPA8(dist=733734) chr16 17678042 17678042 T C het . 1 +intergenic XYLT1(dist=147519),PKD1P4-NPIPA8(dist=699519) chr16 17712257 17712257 C T het . 2 +intergenic XYLT1(dist=250009),PKD1P4-NPIPA8(dist=597029) chr16 17814747 17814747 G T het . 1 +intergenic XYLT1(dist=250034),PKD1P4-NPIPA8(dist=597004) chr16 17814772 17814772 T C het . 3 +intergenic XYLT1(dist=429080),PKD1P4-NPIPA8(dist=417958) chr16 17993818 17993818 T G het . 2 +intergenic XYLT1(dist=461702),PKD1P4-NPIPA8(dist=385336) chr16 18026440 18026440 G A het . 4 +intergenic XYLT1(dist=461707),PKD1P4-NPIPA8(dist=385331) chr16 18026445 18026445 T C het . 4 +intergenic XYLT1(dist=484442),PKD1P4-NPIPA8(dist=362596) chr16 18049180 18049180 C T het . 1 +ncRNA_exonic PKD1P5-LOC105376752 chr16 18480532 18480532 C T het . 22 +intronic RPS15A chr16 18795983 18795983 A - het . 6 +intergenic SMG1(dist=23328),TMC7(dist=34202) chr16 18961054 18961054 G T het . 2 +intergenic SMG1(dist=24390),TMC7(dist=33140) chr16 18962116 18962116 G A het . 5 +intergenic SMG1(dist=25655),TMC7(dist=31875) chr16 18963381 18963381 T - het . 2 +intronic TMC7 chr16 19008962 19008962 G C het . 3 +intronic TMC7 chr16 19043183 19043183 C T het . 2 +intronic TMC7 chr16 19051520 19051520 A G het . 7 +intronic COQ7 chr16 19080227 19080227 - TG het . 20 +exonic ITPRIPL2 chr16 19126378 19126378 C T het . 13 +intronic SYT17 chr16 19208748 19208748 - TTTG het . 3 +intronic SYT17 chr16 19221222 19221225 AAAC - het . 10 +intergenic CLEC19A(dist=10386),TMC5(dist=89206) chr16 19332655 19332655 T C het . 3 +intergenic CLEC19A(dist=10422),TMC5(dist=89167) chr16 19332691 19332694 TCTC - het . 5 +intergenic CLEC19A(dist=73858),TMC5(dist=25734) chr16 19396127 19396127 C T het . 1 +intronic TMC5 chr16 19431759 19431759 A C het . 2 +UTR3 GDE1(NM_001324066:c.*309G>A,NM_001324067:c.*309G>A,NM_016641:c.*309G>A) chr16 19514483 19514483 C T het . 1 +intronic GDE1 chr16 19522426 19522426 T - het . 3 +intronic VPS35L chr16 19589609 19589610 TT - het . 16 +intronic VPS35L chr16 19619603 19619603 T - het . 11 +intronic VPS35L chr16 19627290 19627290 - AAT het . 8 +intronic IQCK chr16 19747387 19747387 A - het . 12 +intronic GPRC5B chr16 19889549 19889549 - C het . 8 +intronic GPRC5B chr16 19889550 19889550 - AAC het . 8 +intronic GPRC5B chr16 19895892 19895892 T C het . 2 +intronic GPRC5B chr16 19895899 19895899 C T het . 2 +intergenic GPR139(dist=50081),GP2(dist=185711) chr16 20135181 20135185 AAAAG - het . 2 +intronic UMOD chr16 20356762 20356764 TTC - het . 3 +intronic ACSM5 chr16 20435405 20435405 C A het . 13 +exonic ACSM5 chr16 20441020 20441020 G A het . 10 +intronic ACSM2A chr16 20488892 20488892 G A het . 1 +intronic ACSM2A chr16 20489868 20489868 A C het . 2 +intergenic ACSM2A(dist=23352),ACSM2B(dist=25739) chr16 20522343 20522344 AA TT het . 1 +intergenic ACSM2A(dist=27800),ACSM2B(dist=21292) chr16 20526791 20526791 T C het . 1 +intronic ACSM2B chr16 20561058 20561058 G A het . 8 +intergenic ACSM2B(dist=16634),ACSM1(dist=30230) chr16 20604329 20604329 C A het . 4 +intronic ACSM1 chr16 20648572 20648572 - ATAAAAA het . 9 +intronic ACSM1 chr16 20648574 20648574 G A het . 9 +intronic ACSM1 chr16 20648581 20648582 GG - het . 8 +intronic THUMPD1 chr16 20749285 20749285 A - het . 9 +intronic REXO5 chr16 20824697 20824697 - G het . 2 +exonic DCUN1D3 chr16 20873641 20873641 C A het . 22 +intronic DCUN1D3 chr16 20891451 20891451 G A het . 2 +intronic DNAH3 chr16 21007790 21007790 T - het . 2 +splicing DNAH3(NM_001347886:exon31:c.4210-1G>A,NM_017539:exon31:c.4348-1G>A) chr16 21061004 21061004 C T het . 10 +intergenic TMEM159(dist=9015),ZP2(dist=7821) chr16 21200952 21200952 T C het . 1 +downstream ANKS4B(dist=691) chr16 21264441 21264441 G T het . 4 +intronic CRYM chr16 21279148 21279148 T G het . 6 +exonic CRYM chr16 21288832 21288832 C A het . 26 +ncRNA_exonic SMG1P3 chr16 21513145 21513153 GCCGCCGCC - het . 14 +intergenic SLC7A5P2(dist=27353),LOC101927814(dist=41901) chr16 21559118 21559118 C A het . 5 +intergenic SLC7A5P2(dist=38006),LOC101927814(dist=31248) chr16 21569771 21569771 T - het . 3 +intergenic SLC7A5P2(dist=38013),LOC101927814(dist=31241) chr16 21569778 21569778 A G het . 3 +intronic METTL9 chr16 21636060 21636060 - T het . 4 +intronic METTL9 chr16 21636063 21636063 A T het . 4 +intronic IGSF6,METTL9 chr16 21658266 21658266 C T het . 1 +upstream OTOA(dist=44) chr16 21689790 21689791 TT - het . 13 +upstream OTOA(dist=44) chr16 21689791 21689791 T A het . 19 +intronic OTOA chr16 21698989 21698989 T - het . 11 +ncRNA_intronic RRN3P1 chr16 21809189 21809189 A - het . 4 +intronic UQCRC2 chr16 21994285 21994288 AAAA - het . 4 +intronic MOSMO chr16 22086502 22086502 C A het . 11 +intronic VWA3A chr16 22114711 22114711 C A het . 8 +intronic VWA3A chr16 22128052 22128053 TT GC het . 5 +exonic VWA3A chr16 22161189 22161189 G A het . 4 +intergenic VWA3A(dist=23501),EEF2K(dist=25804) chr16 22191788 22191788 G A het . 3 +intronic POLR3E chr16 22339775 22339775 C G het . 4 +intergenic OTOAP1(dist=73005),HS3ST2(dist=164669) chr16 22661191 22661191 C T het . 1 +intergenic OTOAP1(dist=86297),HS3ST2(dist=151377) chr16 22674483 22674483 C T het . 7 +intergenic OTOAP1(dist=97341),HS3ST2(dist=140333) chr16 22685527 22685527 C T het . 4 +intergenic OTOAP1(dist=137667),HS3ST2(dist=100007) chr16 22725853 22725853 A G het . 2 +intronic HS3ST2 chr16 22902799 22902799 A - het . 2 +intronic USP31 chr16 23097195 23097195 T C het . 4 +intronic USP31 chr16 23097215 23097215 C T het . 4 +intergenic USP31(dist=8517),SCNN1G(dist=24932) chr16 23169108 23169108 A G het . 3 +intergenic USP31(dist=32296),SCNN1G(dist=1153) chr16 23192887 23192887 C G het . 2 +intronic SCNN1B chr16 23388600 23388600 G A het . 20 +intronic SCNN1B chr16 23391630 23391630 A T het . 1 +intronic COG7 chr16 23457291 23457293 AAA - het . 11 +exonic GGA2 chr16 23521643 23521643 G C het . 8 +exonic PALB2 chr16 23649409 23649409 C A het . 31 +intronic PALB2 chr16 23649823 23649823 A G het . 14 +intronic DCTN5 chr16 23654509 23654509 T G het . 5 +intronic DCTN5 chr16 23654524 23654524 G T het . 5 +intergenic ERN2(dist=1196),CHP2(dist=39931) chr16 23726017 23726017 T C het . 1 +ncRNA_intronic LINC2194 chr16 24248672 24248672 - TTTC het . 3 +ncRNA_intronic LINC2194 chr16 24248727 24248727 A C het . 3 +intronic CACNG3 chr16 24347257 24347257 A - het . 2 +splicing RBBP6(NM_006910:exon4:r.spl,NM_018703:exon4:r.spl) chr16 24564880 24564881 TA - het . 10 +intronic RBBP6 chr16 24579397 24579397 T C het . 3 +intergenic RBBP6(dist=14701),TNRC6A(dist=22646) chr16 24598884 24598884 C T het . 2 +intronic TNRC6A chr16 24699233 24699237 TTCTT - het . 3 +intronic TNRC6A chr16 24732208 24732208 A - het . 3 +exonic TNRC6A chr16 24788423 24788434 GCAGCCACAGCC - het . 31 +intronic TNRC6A chr16 24797615 24797616 TT - het . 2 +intronic TNRC6A chr16 24797637 24797638 TT - het . 3 +exonic TNRC6A chr16 24800897 24800897 C T het . 8 +exonic TNRC6A chr16 24801468 24801468 C G het . 13 +exonic TNRC6A chr16 24816951 24816951 C A het . 13 +intronic TNRC6A chr16 24820824 24820824 A - het . 4 +intronic TNRC6A chr16 24833323 24833323 G A het . 9 +intronic SLC5A11 chr16 24858657 24858657 A C het . 2 +exonic SLC5A11 chr16 24902317 24902317 G A het . 30 +intronic SLC5A11 chr16 24902434 24902434 T C het . 2 +intronic ARHGAP17 chr16 24931691 24931691 G A het . 6 +intronic ARHGAP17 chr16 25020165 25020165 C T het . 2 +intergenic ARHGAP17(dist=4338),LOC554206(dist=12025) chr16 25031037 25031037 A G het . 1 +intergenic LOC554206(dist=28530),LINC02175(dist=5580) chr16 25072628 25072628 T A het . 1 +intergenic LINC02175(dist=21558),LCMT1-AS1(dist=10051) chr16 25101834 25101834 G A het . 1 +intergenic LINC02175(dist=26308),LCMT1-AS1(dist=5301) chr16 25106584 25106584 G A het . 1 +intronic LCMT1 chr16 25172681 25172681 T - het . 4 +intronic LCMT1 chr16 25180610 25180610 G A het . 4 +intronic LCMT1 chr16 25180648 25180648 C T het . 2 +intronic ZKSCAN2 chr16 25259638 25259638 - AAC het . 2 +intronic HS3ST4 chr16 25736687 25736687 C T het . 1 +intronic HS3ST4 chr16 25861904 25861904 C T het . 2 +intergenic HS3ST4(dist=81011),C16orf82(dist=848199) chr16 26230020 26230020 - A het . 3 +intergenic HS3ST4(dist=229466),C16orf82(dist=699744) chr16 26378475 26378475 A - het . 2 +intergenic HS3ST4(dist=398478),C16orf82(dist=530732) chr16 26547487 26547487 - T het . 2 +intergenic HS3ST4(dist=398509),C16orf82(dist=530701) chr16 26547518 26547518 T C het . 2 +intergenic HS3ST4(dist=400538),C16orf82(dist=528661) chr16 26549547 26549558 TTTTGTTTTGTT - het . 2 +intergenic HS3ST4(dist=421210),C16orf82(dist=508000) chr16 26570219 26570219 A G het . 1 +intergenic HS3ST4(dist=421216),C16orf82(dist=507994) chr16 26570225 26570225 T C het . 1 +intergenic HS3ST4(dist=426652),C16orf82(dist=502558) chr16 26575661 26575661 A G het . 2 +intergenic HS3ST4(dist=695766),C16orf82(dist=233444) chr16 26844775 26844775 C T het . 2 +intergenic HS3ST4(dist=809508),C16orf82(dist=119699) chr16 26958517 26958520 AAAG - het . 1 +intergenic HS3ST4(dist=818807),C16orf82(dist=110403) chr16 26967816 26967816 A T het . 2 +intergenic HS3ST4(dist=827584),C16orf82(dist=101626) chr16 26976593 26976593 G T het . 2 +intronic KDM8 chr16 27227168 27227168 T G het . 12 +exonic KDM8 chr16 27231721 27231721 G A het . 10 +intergenic IL4R(dist=30295),IL21R(dist=7089) chr16 27406394 27406394 G T het . 1 +exonic IL21R chr16 27456565 27456565 C T het . 18 +exonic IL21R chr16 27460524 27460524 G A het . 7 +exonic GTF3C1 chr16 27549241 27549241 C A het . 15 +intronic KIAA0556 chr16 27644073 27644073 T C het . 5 +intronic KIAA0556 chr16 27658829 27658829 - T het . 2 +intronic KIAA0556 chr16 27664127 27664127 A - het . 2 +intronic GSG1L chr16 27859096 27859096 G C het . 3 +intronic GSG1L chr16 28072840 28072840 G A het . 2 +intergenic GSG1L(dist=6845),XPO6(dist=27623) chr16 28081675 28081675 A G het . 1 +intergenic XPO6(dist=12844),SBK1(dist=67757) chr16 28236083 28236083 - TTTG het . 4 +intergenic XPO6(dist=19201),SBK1(dist=61400) chr16 28242440 28242440 A C het . 2 +exonic SBK1 chr16 28328916 28328916 C T het . 11 +exonic APOBR chr16 28507644 28507644 C G het . 5 +intronic SGF29 chr16 28596110 28596110 A - het . 2 +intronic SGF29 chr16 28601863 28601863 C A het . 6 +exonic SULT1A2 chr16 28603655 28603655 T G het . 38 +intronic SULT1A2 chr16 28604449 28604449 A G het . 2 +UTR3 SULT1A1(NM_177534:c.*181G>T,NM_177530:c.*181G>T,NM_177529:c.*181G>T,NM_177536:c.*181G>T,NM_001055:c.*181G>T) chr16 28616961 28616961 C A het . 5 +intronic SULT1A1 chr16 28618914 28618914 T A het . 1 +intronic SULT1A1 chr16 28618933 28618933 T C het . 1 +intronic SULT1A1 chr16 28632827 28632827 - AAG het . 2 +intronic ATXN2L chr16 28837203 28837203 T G het . 19 +exonic ATXN2L chr16 28842311 28842311 A G het . 8 +ncRNA_intronic ATP2A1-AS1 chr16 28890472 28890472 A C het . 11 +ncRNA_intronic ATP2A1-AS1 chr16 28890475 28890475 A C het . 11 +intronic ATP2A1 chr16 28896015 28896015 C T het . 4 +intronic ATP2A1 chr16 28915444 28915444 G A het . 15 +intronic RABEP2 chr16 28925978 28925978 T C het . 12 +intronic RABEP2 chr16 28936167 28936167 T G het . 4 +intronic CD19 chr16 28944479 28944479 G A het . 19 +intronic SPNS1 chr16 28994153 28994153 A C het . 4 +intronic SPNS1 chr16 28994161 28994161 A C het . 6 +intergenic LAT(dist=9334),RRN3P2(dist=74725) chr16 29011438 29011438 A C het . 2 +ncRNA_intronic RRN3P2 chr16 29118702 29118704 AGC - het . 18 +ncRNA_intronic RRN3P2 chr16 29124524 29124524 T C het . 6 +intergenic RRN3P2(dist=22598),SNX29P2(dist=162972) chr16 29150636 29150636 A C het . 2 +intergenic SMG1P2(dist=20100),SPN(dist=29133) chr16 29645138 29645138 A C het . 4 +intergenic SMG1P2(dist=20103),SPN(dist=29130) chr16 29645141 29645141 A C het . 4 +intergenic C16orf54(dist=31174),ZG16(dist=1047) chr16 29788514 29788514 G T het . 1 +intronic KIF22 chr16 29814754 29814754 T C het . 20 +intronic TAOK2 chr16 29993108 29993108 C G het . 8 +exonic TAOK2 chr16 29994531 29994533 GAG - het . 13 +intronic YPEL3 chr16 30106040 30106040 C A het . 8 +intergenic MAPK3(dist=13065),CORO1A(dist=47036) chr16 30147695 30147695 T G het . 1 +intergenic MAPK3(dist=13067),CORO1A(dist=47034) chr16 30147697 30147697 C T het . 1 +intergenic MAPK3(dist=35394),CORO1A(dist=24704) chr16 30170024 30170027 TCTT - het . 2 +intronic TBC1D10B chr16 30370958 30370958 G C het . 11 +exonic TBC1D10B chr16 30380872 30380872 C G het . 5 +intronic ITGAL chr16 30511848 30511848 G T het . 2 +intergenic ZNF747(dist=9367),ZNF764(dist=9427) chr16 30555658 30555658 G A het . 4 +downstream ZNF785(dist=722) chr16 30591272 30591272 G A het . 6 +intronic SRCAP chr16 30724221 30724221 C T het . 8 +exonic SRCAP chr16 30749116 30749116 G A het . 19 +UTR3 PHKG2(NM_000294:c.*3587_*3588delAA,NM_001172432:c.*524_*525delAA) chr16 30772005 30772006 AA - het . 13 +UTR3 PHKG2(NM_000294:c.*3622A>G,NM_001172432:c.*559A>G) chr16 30772040 30772040 A G het . 8 +intronic RNF40 chr16 30778579 30778579 G A het . 2 +intronic BCL7C chr16 30855698 30855698 G A het . 3 +intronic BCL7C chr16 30862567 30862567 T - het . 10 +UTR3 ORAI3(NM_152288:c.*268T>A) chr16 30965433 30965433 T A het . 10 +exonic SETD1A chr16 30975501 30975501 C T het . 21 +exonic SETD1A chr16 30991241 30991243 CAG - het . 5 +UTR5 STX1B(NM_052874:c.-97C>T) chr16 31021814 31021814 G A het . 5 +intronic STX4 chr16 31049155 31049155 A G het . 2 +intronic STX4 chr16 31050023 31050023 C A het . 4 +intronic STX4 chr16 31050033 31050033 C T het . 4 +intronic PRSS53 chr16 31095171 31095171 C T het . 10 +intronic PRSS53 chr16 31095204 31095204 G C het . 7 +intronic VKORC1 chr16 31104787 31104787 A C het . 12 +intronic KAT8 chr16 31134213 31134213 T A het . 2 +intronic PRSS36 chr16 31152717 31152717 T C het . 2 +intergenic PRSS36(dist=7700),FUS(dist=22316) chr16 31169115 31169115 T - het . 3 +intronic FUS chr16 31195760 31195764 TTTTT - het . 20 +intronic FUS chr16 31196224 31196224 - T het . 13 +intronic FUS chr16 31199610 31199610 - T het . 22 +UTR3 FUS(NM_001170634:c.*2382_*2383delTT,NM_001170937:c.*2382_*2383delTT,NM_004960:c.*2382_*2383delTT) chr16 31205141 31205142 TT - het . 7 +UTR3 FUS(NM_001170634:c.*2856_*2857insT,NM_001170937:c.*2856_*2857insT,NM_004960:c.*2856_*2857insT) chr16 31205615 31205615 - T het . 13 +intergenic PYCARD-AS1(dist=2136),TRIM72(dist=8433) chr16 31216909 31216909 G C het . 2 +intergenic TRIM72(dist=5702),ITGAM(dist=29076) chr16 31242212 31242212 T A het . 2 +intergenic TRIM72(dist=10391),ITGAM(dist=24387) chr16 31246901 31246901 T C het . 1 +intronic ITGAX chr16 31379928 31379928 T A het . 2 +intronic ITGAD chr16 31429268 31429268 A - het . 2 +intronic ARMC5 chr16 31471378 31471378 A G het . 4 +exonic SLC5A2 chr16 31494557 31494557 C G het . 32 +exonic SLC5A2 chr16 31494560 31494560 C A het . 33 +intergenic YBX3P1(dist=32781),CLUHP3(dist=98308) chr16 31613626 31613626 T - het . 9 +intergenic YBX3P1(dist=53376),CLUHP3(dist=77713) chr16 31634221 31634221 A G het . 3 +intronic ZNF720 chr16 31766749 31766749 T A het . 6 +intergenic ZNF720(dist=35413),VN1R3(dist=10607) chr16 31808299 31808299 C T het . 1 +intronic ZNF267 chr16 31918418 31918418 T C het . 9 +intronic ZNF267 chr16 31918441 31918441 C A het . 6 +intronic ZNF267 chr16 31918448 31918448 C A het . 6 +intronic ZNF267 chr16 31918502 31918502 C G het . 8 +intergenic ZNF267(dist=149287),LOC102723753(dist=85517) chr16 32077916 32077916 - TTT het . 18 +intergenic ZNF267(dist=149290),LOC102723753(dist=85514) chr16 32077919 32077919 A T het . 18 +intergenic LOC390705(dist=43948),TP53TG3E(dist=339595) chr16 32345250 32345250 A G het . 2 +intergenic LOC390705(dist=108325),TP53TG3E(dist=275218) chr16 32409627 32409627 A G het . 2 +intergenic LOC390705(dist=134645),TP53TG3E(dist=248898) chr16 32435947 32435947 C T het . 3 +intergenic LOC390705(dist=169295),TP53TG3E(dist=214248) chr16 32470597 32470597 G T het . 2 +intergenic LOC390705(dist=170333),TP53TG3E(dist=213210) chr16 32471635 32471635 G A het . 2 +intergenic LOC390705(dist=170362),TP53TG3E(dist=213181) chr16 32471664 32471664 T C het . 5 +intergenic LOC390705(dist=179364),TP53TG3E(dist=204179) chr16 32480666 32480666 C T het . 3 +intergenic LOC390705(dist=221573),TP53TG3E(dist=161970) chr16 32522875 32522875 A G het . 1 +intergenic LOC390705(dist=221593),TP53TG3E(dist=161950) chr16 32522895 32522895 T C het . 2 +intergenic LOC390705(dist=221623),TP53TG3E(dist=161920) chr16 32522925 32522925 A G het . 3 +intergenic LOC390705(dist=221975),TP53TG3E(dist=161568) chr16 32523277 32523277 C T het . 2 +intergenic LOC390705(dist=221987),TP53TG3E(dist=161556) chr16 32523289 32523289 A G het . 2 +intergenic LOC390705(dist=223302),TP53TG3E(dist=160241) chr16 32524604 32524604 G A het . 2 +intergenic LOC390705(dist=223304),TP53TG3E(dist=160239) chr16 32524606 32524606 C T het . 2 +intergenic LOC390705(dist=225393),TP53TG3E(dist=158150) chr16 32526695 32526695 G A het . 2 +intergenic LOC390705(dist=228006),TP53TG3E(dist=155537) chr16 32529308 32529308 T C het . 2 +intergenic LOC390705(dist=228460),TP53TG3E(dist=155083) chr16 32529762 32529762 T G het . 3 +intergenic LOC390705(dist=228695),TP53TG3E(dist=154848) chr16 32529997 32529997 T A het . 2 +intergenic LOC390705(dist=228720),TP53TG3E(dist=154823) chr16 32530022 32530022 A G het . 2 +intergenic LOC390705(dist=232559),TP53TG3E(dist=150984) chr16 32533861 32533861 G A het . 4 +intergenic LOC390705(dist=232574),TP53TG3E(dist=150969) chr16 32533876 32533876 C T het . 3 +intergenic LOC390705(dist=233574),TP53TG3E(dist=149969) chr16 32534876 32534876 T C het . 2 +intergenic LOC390705(dist=233590),TP53TG3E(dist=149953) chr16 32534892 32534892 G A het . 2 +intergenic LOC390705(dist=234241),TP53TG3E(dist=149302) chr16 32535543 32535543 G A het . 3 +intergenic LOC390705(dist=234529),TP53TG3E(dist=149014) chr16 32535831 32535831 G A het . 3 +intergenic LOC390705(dist=235238),TP53TG3E(dist=148305) chr16 32536540 32536540 A G het . 3 +intergenic LOC390705(dist=235965),TP53TG3E(dist=147578) chr16 32537267 32537267 G A het . 1 +intergenic LOC390705(dist=237194),TP53TG3E(dist=146349) chr16 32538496 32538496 T C het . 2 +intergenic LOC390705(dist=237717),TP53TG3E(dist=145826) chr16 32539019 32539019 A G het . 2 +intergenic LOC390705(dist=245119),TP53TG3E(dist=138424) chr16 32546421 32546421 T C het . 2 +intergenic LOC390705(dist=247892),TP53TG3E(dist=135651) chr16 32549194 32549194 A G het . 4 +intergenic LOC390705(dist=247904),TP53TG3E(dist=135639) chr16 32549206 32549206 T C het . 4 +intergenic LOC390705(dist=247926),TP53TG3E(dist=135617) chr16 32549228 32549228 T G het . 3 +intergenic LOC390705(dist=251017),TP53TG3E(dist=132526) chr16 32552319 32552319 G T het . 3 +intergenic LOC390705(dist=251040),TP53TG3E(dist=132503) chr16 32552342 32552342 C T het . 4 +intergenic LOC390705(dist=253370),TP53TG3E(dist=130173) chr16 32554672 32554672 A G het . 2 +intergenic LOC390705(dist=280423),TP53TG3E(dist=103120) chr16 32581725 32581725 T C het . 2 +intergenic LOC390705(dist=296161),TP53TG3E(dist=87382) chr16 32597463 32597463 T C het . 3 +intergenic LOC390705(dist=315549),TP53TG3E(dist=67994) chr16 32616851 32616851 A T het . 7 +intergenic LOC390705(dist=315570),TP53TG3E(dist=67973) chr16 32616872 32616872 - AG het . 11 +intergenic LOC390705(dist=315587),TP53TG3E(dist=67956) chr16 32616889 32616889 A G het . 11 +intergenic LOC390705(dist=315589),TP53TG3E(dist=67954) chr16 32616891 32616891 C A het . 11 +intergenic LOC390705(dist=320118),TP53TG3E(dist=63425) chr16 32621420 32621420 T - het . 5 +intergenic LOC390705(dist=327533),TP53TG3E(dist=56010) chr16 32628835 32628835 G A het . 1 +intergenic LOC390705(dist=330211),TP53TG3E(dist=53332) chr16 32631513 32631513 C T het . 2 +intergenic LOC390705(dist=355053),TP53TG3E(dist=28490) chr16 32656355 32656355 A C het . 3 +intergenic TP53TG3B(dist=131143),SLC6A10P(dist=70204) chr16 32818593 32818593 T G het . 1 +intergenic TP53TG3B(dist=131192),SLC6A10P(dist=70152) chr16 32818642 32818645 TTCA - het . 3 +intergenic TP53TG3B(dist=131396),SLC6A10P(dist=69947) chr16 32818846 32818850 TCATT - het . 2 +intergenic TP53TG3B(dist=146209),SLC6A10P(dist=55138) chr16 32833659 32833659 A T het . 4 +intergenic TP53TG3B(dist=146363),SLC6A10P(dist=54983) chr16 32833813 32833814 CT TC het . 22 +intergenic SLC6A10P(dist=144063),TP53TG3B(dist=165057) chr16 33040526 33040526 G A het . 3 +intergenic SLC6A10P(dist=178398),TP53TG3B(dist=130722) chr16 33074861 33074861 C T het . 2 +intergenic TP53TG3E(dist=33008),TP53TG3(dist=20927) chr16 33241191 33241191 T G het . 4 +intergenic LOC390705(dist=102506),ENPP7P13(dist=170636) chr16 33401208 33401208 A G het . 13 +intergenic LOC390705(dist=102508),ENPP7P13(dist=170634) chr16 33401210 33401210 G A het . 13 +intergenic LOC390705(dist=103423),ENPP7P13(dist=169719) chr16 33402125 33402125 C T het . 17 +intergenic LOC390705(dist=103425),ENPP7P13(dist=169717) chr16 33402127 33402127 G A het . 17 +intergenic LOC390705(dist=106113),ENPP7P13(dist=167029) chr16 33404815 33404815 A C het . 10 +intergenic LOC390705(dist=112118),ENPP7P13(dist=161024) chr16 33410820 33410820 C T het . 9 +intergenic LOC390705(dist=115225),ENPP7P13(dist=157917) chr16 33413927 33413927 G A het . 16 +intergenic LOC390705(dist=115235),ENPP7P13(dist=157907) chr16 33413937 33413937 G A het . 16 +intergenic LOC390705(dist=115237),ENPP7P13(dist=157905) chr16 33413939 33413939 T G het . 16 +intergenic LOC390705(dist=115255),ENPP7P13(dist=157887) chr16 33413957 33413957 C T het . 15 +intergenic LOC390705(dist=121281),ENPP7P13(dist=151861) chr16 33419983 33419983 G C het . 2 +intergenic LOC390705(dist=202272),ENPP7P13(dist=70869) chr16 33500974 33500975 AG - het . 14 +intergenic LOC390705(dist=227272),ENPP7P13(dist=45870) chr16 33525974 33525974 G A het . 27 +intergenic LOC390705(dist=227332),ENPP7P13(dist=45810) chr16 33526034 33526034 C A het . 24 +intergenic LOC390705(dist=228904),ENPP7P13(dist=44238) chr16 33527606 33527606 G A het . 15 +intergenic LOC390705(dist=229100),ENPP7P13(dist=44042) chr16 33527802 33527802 G A het . 39 +intergenic LOC390705(dist=229381),ENPP7P13(dist=43761) chr16 33528083 33528083 T C het . 4 +intergenic LOC390705(dist=231893),ENPP7P13(dist=41249) chr16 33530595 33530595 G A het . 5 +intergenic LOC390705(dist=232166),ENPP7P13(dist=40976) chr16 33530868 33530868 T C het . 11 +intergenic LOC390705(dist=232355),ENPP7P13(dist=40787) chr16 33531057 33531057 T G het . 3 +intergenic LOC390705(dist=234458),ENPP7P13(dist=38684) chr16 33533160 33533160 T G het . 3 +intergenic LOC390705(dist=234492),ENPP7P13(dist=38650) chr16 33533194 33533194 A G het . 3 +intergenic LOC390705(dist=234941),ENPP7P13(dist=38201) chr16 33533643 33533643 T A het . 3 +intergenic LOC390705(dist=235628),ENPP7P13(dist=37514) chr16 33534330 33534330 G A het . 5 +intergenic LOC390705(dist=235857),ENPP7P13(dist=37285) chr16 33534559 33534559 T A het . 8 +intergenic LOC390705(dist=235885),ENPP7P13(dist=37257) chr16 33534587 33534587 - A het . 12 +intergenic LOC390705(dist=236029),ENPP7P13(dist=37113) chr16 33534731 33534731 A T het . 17 +intergenic LOC390705(dist=237868),ENPP7P13(dist=35274) chr16 33536570 33536570 T A het . 2 +intergenic LOC390705(dist=238478),ENPP7P13(dist=34664) chr16 33537180 33537180 T C het . 6 +intergenic LOC390705(dist=238521),ENPP7P13(dist=34621) chr16 33537223 33537223 G A het . 6 +intergenic LOC390705(dist=238544),ENPP7P13(dist=34598) chr16 33537246 33537246 G C het . 4 +intergenic LOC390705(dist=238555),ENPP7P13(dist=34587) chr16 33537257 33537257 C T het . 14 +intergenic LOC390705(dist=238601),ENPP7P13(dist=34541) chr16 33537303 33537303 T C het . 19 +intergenic LOC390705(dist=238629),ENPP7P13(dist=34513) chr16 33537331 33537331 A G het . 12 +intergenic LOC390705(dist=238657),ENPP7P13(dist=34485) chr16 33537359 33537359 T C het . 6 +intergenic LOC390705(dist=238664),ENPP7P13(dist=34478) chr16 33537366 33537366 C T het . 7 +intergenic LOC390705(dist=239143),ENPP7P13(dist=33999) chr16 33537845 33537845 C T het . 2 +intergenic LOC390705(dist=239193),ENPP7P13(dist=33949) chr16 33537895 33537895 A G het . 2 +intergenic LOC390705(dist=239859),ENPP7P13(dist=33283) chr16 33538561 33538561 G T het . 2 +intergenic LOC390705(dist=239863),ENPP7P13(dist=33279) chr16 33538565 33538565 C G het . 2 +intergenic LOC390705(dist=240722),ENPP7P13(dist=32420) chr16 33539424 33539424 T - het . 6 +intergenic LOC390705(dist=242359),ENPP7P13(dist=30783) chr16 33541061 33541061 T C het . 2 +intergenic LOC390705(dist=242371),ENPP7P13(dist=30771) chr16 33541073 33541073 A G het . 2 +intergenic LOC390705(dist=243384),ENPP7P13(dist=29758) chr16 33542086 33542086 C T het . 4 +intergenic LOC390705(dist=243395),ENPP7P13(dist=29747) chr16 33542097 33542097 T C het . 2 +intergenic LOC390705(dist=245511),ENPP7P13(dist=27631) chr16 33544213 33544213 G A het . 5 +intergenic LOC390705(dist=245529),ENPP7P13(dist=27613) chr16 33544231 33544231 G A het . 6 +intergenic LOC390705(dist=245573),ENPP7P13(dist=27569) chr16 33544275 33544275 G T het . 30 +intergenic LOC390705(dist=245590),ENPP7P13(dist=27552) chr16 33544292 33544292 A G het . 37 +intergenic LOC390705(dist=245600),ENPP7P13(dist=27542) chr16 33544302 33544302 C G het . 38 +intergenic LOC390705(dist=248892),ENPP7P13(dist=24250) chr16 33547594 33547594 C G het . 4 +intergenic LOC390705(dist=249138),ENPP7P13(dist=24004) chr16 33547840 33547840 A C het . 5 +intergenic LOC390705(dist=249142),ENPP7P13(dist=24000) chr16 33547844 33547844 T C het . 5 +intergenic LOC390705(dist=249144),ENPP7P13(dist=23998) chr16 33547846 33547846 A G het . 5 +intergenic LOC390705(dist=249151),ENPP7P13(dist=23991) chr16 33547853 33547853 T C het . 4 +intergenic LOC390705(dist=249158),ENPP7P13(dist=23984) chr16 33547860 33547860 C G het . 4 +intergenic LOC390705(dist=249260),ENPP7P13(dist=23882) chr16 33547962 33547962 T C het . 21 +intergenic LOC390705(dist=249264),ENPP7P13(dist=23878) chr16 33547966 33547966 G A het . 21 +intergenic LOC390705(dist=249311),ENPP7P13(dist=23831) chr16 33548013 33548013 T G het . 18 +intergenic ENPP7P13(dist=26282),UBE2MP1(dist=790778) chr16 33613024 33613024 G A het . 10 +intergenic ENPP7P13(dist=26360),UBE2MP1(dist=790700) chr16 33613102 33613102 T C het . 3 +intergenic ENPP7P13(dist=279543),UBE2MP1(dist=537517) chr16 33866285 33866285 C T het . 1 +intergenic ENPP7P13(dist=279549),UBE2MP1(dist=537511) chr16 33866291 33866291 C T het . 1 +intergenic ENPP7P13(dist=315041),UBE2MP1(dist=502019) chr16 33901783 33901783 C G het . 2 +intergenic ENPP7P13(dist=320939),UBE2MP1(dist=496121) chr16 33907681 33907681 C A het . 2 +intergenic ENPP7P13(dist=330333),UBE2MP1(dist=486727) chr16 33917075 33917075 C G het . 2 +intergenic ENPP7P13(dist=332850),UBE2MP1(dist=484210) chr16 33919592 33919592 A T het . 3 +intergenic ENPP7P13(dist=335463),UBE2MP1(dist=481597) chr16 33922205 33922205 T A het . 2 +intergenic ENPP7P13(dist=354938),UBE2MP1(dist=462122) chr16 33941680 33941680 T G het . 7 +intergenic ENPP7P13(dist=357403),UBE2MP1(dist=459657) chr16 33944145 33944145 G C het . 2 +intergenic ENPP7P13(dist=357680),UBE2MP1(dist=459380) chr16 33944422 33944422 A T het . 3 +intergenic ENPP7P13(dist=357710),UBE2MP1(dist=459350) chr16 33944452 33944452 G A het . 4 +intergenic ENPP7P13(dist=357731),UBE2MP1(dist=459329) chr16 33944473 33944473 C A het . 3 +intergenic ENPP7P13(dist=361954),UBE2MP1(dist=455106) chr16 33948696 33948696 G C het . 7 +intergenic ENPP7P13(dist=361966),UBE2MP1(dist=455094) chr16 33948708 33948708 C T het . 6 +intergenic ENPP7P13(dist=361969),UBE2MP1(dist=455091) chr16 33948711 33948711 T C het . 6 +intergenic ENPP7P13(dist=361995),UBE2MP1(dist=455065) chr16 33948737 33948737 G A het . 3 +intergenic ENPP7P13(dist=362468),UBE2MP1(dist=454592) chr16 33949210 33949210 A G het . 2 +intergenic ENPP7P13(dist=364474),UBE2MP1(dist=452586) chr16 33951216 33951216 T - het . 1 +intergenic ENPP7P13(dist=364478),UBE2MP1(dist=452576) chr16 33951220 33951226 TTTCTTT - het . 1 +intergenic ENPP7P13(dist=364496),UBE2MP1(dist=452564) chr16 33951238 33951238 C G het . 1 +intergenic ENPP7P13(dist=374581),UBE2MP1(dist=442479) chr16 33961323 33961323 G A het . 10 +intergenic ENPP7P13(dist=377691),UBE2MP1(dist=439368) chr16 33964433 33964434 CC TG het . 1 +intergenic ENPP7P13(dist=377700),UBE2MP1(dist=439360) chr16 33964442 33964442 C G het . 1 +intergenic ENPP7P13(dist=377704),UBE2MP1(dist=439355) chr16 33964446 33964447 TG CA het . 1 +intergenic ENPP7P13(dist=377715),UBE2MP1(dist=439345) chr16 33964457 33964457 C T het . 1 +intergenic ENPP7P13(dist=377720),UBE2MP1(dist=439340) chr16 33964462 33964462 G A het . 1 +intergenic ENPP7P13(dist=377725),UBE2MP1(dist=439335) chr16 33964467 33964467 C T het . 1 +intergenic ENPP7P13(dist=378647),UBE2MP1(dist=438413) chr16 33965389 33965389 T C het . 3 +intergenic ENPP7P13(dist=378665),UBE2MP1(dist=438394) chr16 33965407 33965408 TG CA het . 5 +intergenic ENPP7P13(dist=378707),UBE2MP1(dist=438353) chr16 33965449 33965449 G C het . 7 +intergenic ENPP7P13(dist=378714),UBE2MP1(dist=438346) chr16 33965456 33965456 T C het . 8 +intergenic ENPP7P13(dist=378717),UBE2MP1(dist=438343) chr16 33965459 33965459 C T het . 8 +intergenic ENPP7P13(dist=378718),UBE2MP1(dist=438342) chr16 33965460 33965460 G A het . 8 +intergenic ENPP7P13(dist=378902),UBE2MP1(dist=438158) chr16 33965644 33965644 A G het . 6 +intergenic ENPP7P13(dist=378913),UBE2MP1(dist=438147) chr16 33965655 33965655 C A het . 4 +intergenic ENPP7P13(dist=379019),UBE2MP1(dist=438040) chr16 33965761 33965762 GG AA het . 1 +intergenic ENPP7P13(dist=379651),UBE2MP1(dist=437408) chr16 33966393 33966394 GA CC het . 4 +intergenic ENPP7P13(dist=379657),UBE2MP1(dist=437403) chr16 33966399 33966399 C T het . 4 +intergenic ENPP7P13(dist=379659),UBE2MP1(dist=437401) chr16 33966401 33966401 T G het . 4 +intergenic ENPP7P13(dist=379663),UBE2MP1(dist=437397) chr16 33966405 33966405 C T het . 4 +intergenic ENPP7P13(dist=379666),UBE2MP1(dist=437394) chr16 33966408 33966408 C T het . 4 +intergenic ENPP7P13(dist=379669),UBE2MP1(dist=437391) chr16 33966411 33966411 T A het . 4 +intergenic ENPP7P13(dist=379674),UBE2MP1(dist=437386) chr16 33966416 33966416 C T het . 4 +intergenic ENPP7P13(dist=379680),UBE2MP1(dist=437380) chr16 33966422 33966422 C A het . 4 +intergenic ENPP7P13(dist=379700),UBE2MP1(dist=437360) chr16 33966442 33966442 T C het . 1 +intergenic ENPP7P13(dist=380325),UBE2MP1(dist=436735) chr16 33967067 33967067 C G het . 3 +intergenic ENPP7P13(dist=382556),UBE2MP1(dist=434504) chr16 33969298 33969298 G A het . 2 +intergenic ENPP7P13(dist=383040),UBE2MP1(dist=434020) chr16 33969782 33969782 C T het . 4 +intergenic ENPP7P13(dist=383073),UBE2MP1(dist=433986) chr16 33969815 33969816 AG GA het . 4 +intergenic ENPP7P13(dist=383076),UBE2MP1(dist=433984) chr16 33969818 33969818 C T het . 4 +intergenic ENPP7P13(dist=383077),UBE2MP1(dist=433983) chr16 33969819 33969819 T A het . 4 +intergenic ENPP7P13(dist=384322),UBE2MP1(dist=432738) chr16 33971064 33971064 G A het . 4 +intergenic ENPP7P13(dist=384370),UBE2MP1(dist=432690) chr16 33971112 33971112 A G het . 3 +intergenic ENPP7P13(dist=384438),UBE2MP1(dist=432622) chr16 33971180 33971180 T C het . 3 +intergenic ENPP7P13(dist=384467),UBE2MP1(dist=432593) chr16 33971209 33971209 G T het . 1 +intergenic ENPP7P13(dist=384471),UBE2MP1(dist=432589) chr16 33971213 33971213 A T het . 1 +intergenic ENPP7P13(dist=384485),UBE2MP1(dist=432574) chr16 33971227 33971228 TG GA het . 1 +intergenic ENPP7P13(dist=384491),UBE2MP1(dist=432569) chr16 33971233 33971233 G A het . 1 +intergenic ENPP7P13(dist=384694),UBE2MP1(dist=432366) chr16 33971436 33971436 G T het . 4 +intergenic ENPP7P13(dist=385520),UBE2MP1(dist=431540) chr16 33972262 33972262 C G het . 2 +intergenic ENPP7P13(dist=385736),UBE2MP1(dist=431324) chr16 33972478 33972478 C T het . 4 +intergenic ENPP7P13(dist=386166),UBE2MP1(dist=430894) chr16 33972908 33972908 A T het . 1 +intergenic ENPP7P13(dist=386259),UBE2MP1(dist=430801) chr16 33973001 33973001 T G het . 2 +intergenic ENPP7P13(dist=386957),UBE2MP1(dist=430103) chr16 33973699 33973699 A T het . 4 +intergenic ENPP7P13(dist=387339),UBE2MP1(dist=429721) chr16 33974081 33974081 G T het . 12 +intergenic ENPP7P13(dist=387362),UBE2MP1(dist=429698) chr16 33974104 33974104 C G het . 11 +intergenic ENPP7P13(dist=387378),UBE2MP1(dist=429681) chr16 33974120 33974121 CA AG het . 9 +intergenic ENPP7P13(dist=387385),UBE2MP1(dist=429675) chr16 33974127 33974127 G T het . 6 +intergenic ENPP7P13(dist=387498),UBE2MP1(dist=429562) chr16 33974240 33974240 C T het . 4 +intergenic ENPP7P13(dist=387508),UBE2MP1(dist=429552) chr16 33974250 33974250 T G het . 4 +intergenic ENPP7P13(dist=387642),UBE2MP1(dist=429418) chr16 33974384 33974384 C T het . 5 +intergenic ENPP7P13(dist=387887),UBE2MP1(dist=429173) chr16 33974629 33974629 C T het . 4 +intergenic ENPP7P13(dist=387930),UBE2MP1(dist=429130) chr16 33974672 33974672 T C het . 10 +intergenic ENPP7P13(dist=387955),UBE2MP1(dist=429105) chr16 33974697 33974697 A G het . 14 +intergenic ENPP7P13(dist=387964),UBE2MP1(dist=429096) chr16 33974706 33974706 A G het . 12 +intergenic ENPP7P13(dist=388274),UBE2MP1(dist=428786) chr16 33975016 33975016 G A het . 2 +intergenic ENPP7P13(dist=388330),UBE2MP1(dist=428730) chr16 33975072 33975072 C G het . 4 +intergenic ENPP7P13(dist=388344),UBE2MP1(dist=428716) chr16 33975086 33975086 T A het . 6 +intergenic ENPP7P13(dist=388346),UBE2MP1(dist=428714) chr16 33975088 33975088 T G het . 6 +intergenic ENPP7P13(dist=388376),UBE2MP1(dist=428684) chr16 33975118 33975118 T C het . 6 +intergenic ENPP7P13(dist=388391),UBE2MP1(dist=428669) chr16 33975133 33975133 - A het . 5 +intergenic ENPP7P13(dist=388492),UBE2MP1(dist=428568) chr16 33975234 33975234 A T het . 13 +intergenic ENPP7P13(dist=388493),UBE2MP1(dist=428566) chr16 33975235 33975236 CA TG het . 13 +intergenic ENPP7P13(dist=388504),UBE2MP1(dist=428556) chr16 33975246 33975246 A C het . 12 +intergenic ENPP7P13(dist=388512),UBE2MP1(dist=428548) chr16 33975254 33975254 T A het . 13 +intergenic ENPP7P13(dist=388528),UBE2MP1(dist=428532) chr16 33975270 33975270 T C het . 8 +intergenic ENPP7P13(dist=388532),UBE2MP1(dist=428528) chr16 33975274 33975274 T C het . 7 +intergenic ENPP7P13(dist=388655),UBE2MP1(dist=428405) chr16 33975397 33975397 T C het . 4 +intergenic ENPP7P13(dist=388691),UBE2MP1(dist=428369) chr16 33975433 33975433 A G het . 4 +intergenic ENPP7P13(dist=389081),UBE2MP1(dist=427979) chr16 33975823 33975823 T C het . 5 +intergenic ENPP7P13(dist=389247),UBE2MP1(dist=427813) chr16 33975989 33975989 G C het . 1 +intergenic ENPP7P13(dist=389535),UBE2MP1(dist=427525) chr16 33976277 33976277 A C het . 2 +intergenic ENPP7P13(dist=389775),UBE2MP1(dist=427285) chr16 33976517 33976517 A G het . 4 +intergenic ENPP7P13(dist=389780),UBE2MP1(dist=427280) chr16 33976522 33976522 C T het . 4 +intergenic ENPP7P13(dist=389793),UBE2MP1(dist=427267) chr16 33976535 33976535 C G het . 3 +intergenic ENPP7P13(dist=389819),UBE2MP1(dist=427241) chr16 33976561 33976561 C A het . 4 +intergenic ENPP7P13(dist=389878),UBE2MP1(dist=427182) chr16 33976620 33976620 G A het . 3 +intergenic ENPP7P13(dist=389891),UBE2MP1(dist=427169) chr16 33976633 33976633 T C het . 2 +intergenic ENPP7P13(dist=389956),UBE2MP1(dist=427104) chr16 33976698 33976698 C T het . 3 +intergenic ENPP7P13(dist=389982),UBE2MP1(dist=427078) chr16 33976724 33976724 A T het . 4 +intergenic ENPP7P13(dist=390008),UBE2MP1(dist=427052) chr16 33976750 33976750 A - het . 2 +intergenic ENPP7P13(dist=390163),UBE2MP1(dist=426896) chr16 33976905 33976906 GG AC het . 6 +intergenic ENPP7P13(dist=390210),UBE2MP1(dist=426849) chr16 33976952 33976953 AC - het . 4 +intergenic ENPP7P13(dist=391701),UBE2MP1(dist=425358) chr16 33978443 33978444 GG CA het . 1 +intergenic ENPP7P13(dist=392457),UBE2MP1(dist=424603) chr16 33979199 33979199 T G het . 2 +intergenic ENPP7P13(dist=392676),UBE2MP1(dist=424384) chr16 33979418 33979418 G T het . 6 +intergenic ENPP7P13(dist=392678),UBE2MP1(dist=424382) chr16 33979420 33979420 T C het . 6 +intergenic ENPP7P13(dist=392690),UBE2MP1(dist=424370) chr16 33979432 33979432 T A het . 5 +intergenic ENPP7P13(dist=396349),UBE2MP1(dist=420711) chr16 33983091 33983091 C T het . 2 +intergenic ENPP7P13(dist=397622),UBE2MP1(dist=419438) chr16 33984364 33984364 A - het . 1 +intergenic ENPP7P13(dist=397632),UBE2MP1(dist=419428) chr16 33984374 33984374 A G het . 1 +intergenic ENPP7P13(dist=397648),UBE2MP1(dist=419412) chr16 33984390 33984390 G C het . 1 +intergenic ENPP7P13(dist=397804),UBE2MP1(dist=419256) chr16 33984546 33984546 C A het . 2 +intergenic ENPP7P13(dist=397841),UBE2MP1(dist=419219) chr16 33984583 33984583 A T het . 5 +intergenic ENPP7P13(dist=397892),UBE2MP1(dist=419168) chr16 33984634 33984634 G A het . 5 +intergenic ENPP7P13(dist=397913),UBE2MP1(dist=419147) chr16 33984655 33984655 C A het . 2 +intergenic ENPP7P13(dist=400312),UBE2MP1(dist=416748) chr16 33987054 33987054 C T het . 3 +intergenic ENPP7P13(dist=400800),UBE2MP1(dist=416260) chr16 33987542 33987542 T A het . 2 +intergenic ENPP7P13(dist=400808),UBE2MP1(dist=416252) chr16 33987550 33987550 G A het . 2 +intergenic ENPP7P13(dist=401465),UBE2MP1(dist=415595) chr16 33988207 33988207 C G het . 2 +intergenic ENPP7P13(dist=405478),UBE2MP1(dist=411582) chr16 33992220 33992220 T G het . 3 +intergenic ENPP7P13(dist=405524),UBE2MP1(dist=411536) chr16 33992266 33992266 A C het . 3 +intergenic ENPP7P13(dist=406363),UBE2MP1(dist=410697) chr16 33993105 33993105 C G het . 2 +intergenic ENPP7P13(dist=410453),UBE2MP1(dist=406607) chr16 33997195 33997195 T G het . 2 +intergenic ENPP7P13(dist=410462),UBE2MP1(dist=406598) chr16 33997204 33997204 C A het . 2 +intergenic ENPP7P13(dist=410466),UBE2MP1(dist=406594) chr16 33997208 33997208 C G het . 2 +intergenic ENPP7P13(dist=410471),UBE2MP1(dist=406589) chr16 33997213 33997213 G A het . 2 +intergenic ENPP7P13(dist=413443),UBE2MP1(dist=403617) chr16 34000185 34000185 C T het . 2 +intergenic ENPP7P13(dist=428753),UBE2MP1(dist=388307) chr16 34015495 34015495 A G het . 2 +intergenic ENPP7P13(dist=428786),UBE2MP1(dist=388274) chr16 34015528 34015528 C T het . 4 +intergenic ENPP7P13(dist=429094),UBE2MP1(dist=387966) chr16 34015836 34015836 G A het . 3 +intergenic ENPP7P13(dist=429227),UBE2MP1(dist=387833) chr16 34015969 34015969 C T het . 2 +intergenic ENPP7P13(dist=589249),UBE2MP1(dist=227811) chr16 34175991 34175991 C T het . 6 +intergenic ENPP7P13(dist=589357),UBE2MP1(dist=227703) chr16 34176099 34176099 A G het . 12 +intergenic ENPP7P13(dist=609168),UBE2MP1(dist=207892) chr16 34195910 34195910 C T het . 2 +intergenic ENPP7P13(dist=609198),UBE2MP1(dist=207862) chr16 34195940 34195940 A G het . 2 +intergenic ENPP7P13(dist=731989),UBE2MP1(dist=85071) chr16 34318731 34318731 T G het . 4 +ncRNA_exonic UBE2MP1 chr16 34404656 34404656 C T het . 3 +intergenic LINC01566(dist=33914),FRG2DP(dist=51787) chr16 34659998 34659998 C T het . 2 +intergenic NONE(dist=NONE),ANKRD26P1(dist=116029) chr16 46387220 46387220 T A het . 5 +intergenic NONE(dist=NONE),ANKRD26P1(dist=114842) chr16 46388407 46388407 C T het . 12 +intergenic NONE(dist=NONE),ANKRD26P1(dist=114159) chr16 46389090 46389090 C A het . 12 +intergenic NONE(dist=NONE),ANKRD26P1(dist=114018) chr16 46389231 46389231 C T het . 8 +intergenic NONE(dist=NONE),ANKRD26P1(dist=112591) chr16 46390658 46390658 A T het . 7 +intergenic NONE(dist=NONE),ANKRD26P1(dist=111245) chr16 46392004 46392004 C T het . 32 +intergenic NONE(dist=NONE),ANKRD26P1(dist=111240) chr16 46392009 46392009 C A het . 34 +intergenic NONE(dist=NONE),ANKRD26P1(dist=111203) chr16 46392046 46392046 T A het . 35 +intergenic NONE(dist=NONE),ANKRD26P1(dist=110606) chr16 46392643 46392643 C T het . 3 +intergenic NONE(dist=NONE),ANKRD26P1(dist=110031) chr16 46393218 46393218 A T het . 7 +intergenic NONE(dist=NONE),ANKRD26P1(dist=109702) chr16 46393547 46393547 C G het . 4 +intergenic NONE(dist=NONE),ANKRD26P1(dist=109627) chr16 46393622 46393622 C T het . 6 +intergenic NONE(dist=NONE),ANKRD26P1(dist=106568) chr16 46396681 46396681 A C het . 4 +intergenic NONE(dist=NONE),ANKRD26P1(dist=106563) chr16 46396686 46396686 T A het . 4 +intergenic NONE(dist=NONE),ANKRD26P1(dist=106537) chr16 46396712 46396712 T A het . 12 +intergenic NONE(dist=NONE),ANKRD26P1(dist=99819) chr16 46403430 46403430 G C het . 1 +intergenic NONE(dist=NONE),ANKRD26P1(dist=99603) chr16 46403646 46403646 G T het . 16 +intergenic NONE(dist=NONE),ANKRD26P1(dist=99533) chr16 46403716 46403716 C G het . 22 +intergenic NONE(dist=NONE),ANKRD26P1(dist=99472) chr16 46403777 46403777 C G het . 5 +intergenic NONE(dist=NONE),ANKRD26P1(dist=98311) chr16 46404938 46404938 A G het . 15 +intergenic NONE(dist=NONE),ANKRD26P1(dist=93593) chr16 46409653 46409656 TTCA - het . 4 +intergenic NONE(dist=NONE),ANKRD26P1(dist=93541) chr16 46409708 46409708 C T het . 4 +intergenic NONE(dist=NONE),ANKRD26P1(dist=86134) chr16 46417115 46417115 C T het . 12 +intergenic NONE(dist=NONE),ANKRD26P1(dist=86092) chr16 46417157 46417157 T A het . 13 +intergenic NONE(dist=NONE),ANKRD26P1(dist=86073) chr16 46417176 46417176 G T het . 6 +intergenic NONE(dist=NONE),ANKRD26P1(dist=86016) chr16 46417233 46417233 T C het . 3 +intergenic NONE(dist=NONE),ANKRD26P1(dist=85984) chr16 46417265 46417265 C T het . 15 +intergenic NONE(dist=NONE),ANKRD26P1(dist=85969) chr16 46417280 46417280 G T het . 17 +intergenic NONE(dist=NONE),ANKRD26P1(dist=85953) chr16 46417296 46417296 G T het . 16 +intergenic NONE(dist=NONE),ANKRD26P1(dist=83782) chr16 46419467 46419467 G C het . 5 +intergenic NONE(dist=NONE),ANKRD26P1(dist=83780) chr16 46419469 46419469 - T het . 5 +intergenic NONE(dist=NONE),ANKRD26P1(dist=83774) chr16 46419475 46419475 T C het . 5 +intergenic NONE(dist=NONE),ANKRD26P1(dist=83709) chr16 46419540 46419540 C G het . 9 +intergenic NONE(dist=NONE),ANKRD26P1(dist=77492) chr16 46425757 46425757 G C het . 4 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76972) chr16 46426277 46426277 A G het . 3 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76962) chr16 46426287 46426287 A C het . 6 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76953) chr16 46426296 46426296 C G het . 8 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76947) chr16 46426302 46426302 C A het . 9 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76932) chr16 46426317 46426317 C G het . 9 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76174) chr16 46427075 46427075 C A het . 3 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76159) chr16 46427090 46427090 T A het . 6 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76132) chr16 46427117 46427117 C G het . 6 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76122) chr16 46427127 46427127 T C het . 6 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76116) chr16 46427133 46427133 G T het . 6 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76109) chr16 46427140 46427140 A T het . 4 +intergenic NONE(dist=NONE),ANKRD26P1(dist=76104) chr16 46427145 46427145 G A het . 4 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75908) chr16 46427341 46427341 G A het . 4 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75810) chr16 46427439 46427439 A T het . 7 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75759) chr16 46427490 46427490 T C het . 18 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75727) chr16 46427522 46427522 C G het . 17 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75716) chr16 46427533 46427533 T C het . 16 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75693) chr16 46427556 46427556 C G het . 15 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75661) chr16 46427588 46427588 A C het . 15 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75650) chr16 46427599 46427599 A G het . 16 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75602) chr16 46427647 46427647 C G het . 21 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75569) chr16 46427680 46427680 T C het . 19 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75512) chr16 46427737 46427737 T A het . 14 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75496) chr16 46427753 46427753 T C het . 6 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75485) chr16 46427764 46427764 T C het . 4 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75432) chr16 46427817 46427817 G A het . 2 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75394) chr16 46427855 46427855 G A het . 7 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75333) chr16 46427916 46427916 G A het . 12 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75284) chr16 46427965 46427965 C G het . 13 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75260) chr16 46427989 46427989 T C het . 9 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75258) chr16 46427991 46427991 C A het . 11 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75211) chr16 46428038 46428038 C G het . 6 +intergenic NONE(dist=NONE),ANKRD26P1(dist=75207) chr16 46428042 46428042 G A het . 6 +intergenic NONE(dist=NONE),ANKRD26P1(dist=74116) chr16 46429133 46429133 A T het . 5 +intergenic NONE(dist=NONE),ANKRD26P1(dist=74114) chr16 46429135 46429135 A T het . 5 +intergenic NONE(dist=NONE),ANKRD26P1(dist=74109) chr16 46429140 46429140 T A het . 4 +intergenic NONE(dist=NONE),ANKRD26P1(dist=73824) chr16 46429425 46429425 G T het . 5 +intergenic NONE(dist=NONE),ANKRD26P1(dist=52875) chr16 46450374 46450374 A T het . 2 +ncRNA_intronic ANKRD26P1 chr16 46516702 46516702 G C het . 2 +intronic SHCBP1 chr16 46642456 46642456 A G het . 2 +intronic VPS35 chr16 46694732 46694732 - A het . 6 +intronic VPS35 chr16 46696616 46696616 T G het . 2 +intronic VPS35 chr16 46708575 46708575 A - het . 20 +intronic MYLK3 chr16 46764482 46764482 A C het . 4 +intergenic GPT2(dist=18903),DNAJA2(dist=5162) chr16 46984112 46984112 G - het . 2 +intergenic DNAJA2(dist=1596),NETO2(dist=106210) chr16 47009221 47009221 G A het . 2 +ncRNA_intronic ITFG1-AS1 chr16 47189602 47189602 C A het . 8 +exonic ITFG1 chr16 47196459 47196459 C A het . 5 +intronic ITFG1 chr16 47410001 47410001 A - het . 5 +intronic PHKB chr16 47549565 47549566 TT - het . 15 +intronic PHKB chr16 47632609 47632609 T A het . 16 +intronic LONP2 chr16 48311157 48311157 A G het . 2 +intronic HEATR3 chr16 50100251 50100251 T G het . 2 +intronic HEATR3 chr16 50100274 50100274 G C het . 2 +intronic TENT4B chr16 50187421 50187421 G A het . 2 +exonic TENT4B chr16 50259156 50259156 - GTC het . 10 +intronic ADCY7 chr16 50327462 50327462 G A het . 7 +intronic ADCY7 chr16 50342142 50342151 GGTGGGGACA - het . 3 +intronic BRD7 chr16 50367633 50367633 - A het . 6 +exonic NOD2 chr16 50745655 50745655 C T het . 11 +intronic NOD2 chr16 50759268 50759268 C - het . 11 +intronic NOD2 chr16 50759269 50759269 T A het . 11 +intronic NOD2 chr16 50761434 50761434 C T het . 7 +intronic CYLD chr16 50785891 50785904 ACATATATATACAC - het . 4 +intronic CYLD chr16 50811673 50811673 - A het . 8 +intergenic LINC02127(dist=11308),SALL1(dist=88890) chr16 51080996 51080996 T G het . 2 +intergenic LINC02127(dist=13000),SALL1(dist=87198) chr16 51082688 51082688 G T het . 2 +exonic SALL1 chr16 51173287 51173287 T C het . 28 +intergenic LINC01571(dist=68521),C16orf97(dist=185186) chr16 51875078 51875078 T C het . 2 +intergenic LINC01571(dist=68545),C16orf97(dist=185162) chr16 51875102 51875102 A C het . 2 +intronic C16orf97 chr16 52079361 52079361 T G het . 1 +intergenic CASC22(dist=73227),TOX3(dist=82890) chr16 52387438 52387438 A C het . 2 +intergenic CASC16(dist=104511),LOC105371267(dist=324203) chr16 52745398 52745399 AA - het . 2 +intergenic CASC16(dist=329697),LOC105371267(dist=99018) chr16 52970584 52970584 A G het . 1 +intergenic CASC16(dist=352340),LOC105371267(dist=76375) chr16 52993227 52993227 C T het . 1 +intronic CHD9 chr16 53129969 53129969 - A het . 1 +intronic RBL2 chr16 53476804 53476804 G A het . 5 +intronic AKTIP chr16 53534095 53534095 T A het . 7 +intronic RPGRIP1L chr16 53721714 53721714 A - het . 32 +exonic FTO chr16 53844120 53844120 C A het . 28 +intronic FTO chr16 53860481 53860481 G A het . 3 +intronic FTO chr16 53877868 53877868 A G het . 13 +intronic FTO chr16 54031129 54031130 GA - het . 2 +intergenic FTO(dist=48862),LINC02169(dist=82216) chr16 54197241 54197241 G A het . 2 +intergenic IRX3(dist=73615),LINC02140(dist=5926) chr16 54393993 54393993 C A het . 2 +intergenic LINC02140(dist=38830),LOC101927480(dist=437721) chr16 54443441 54443441 A T het . 3 +intergenic LINC02140(dist=42159),LOC101927480(dist=434391) chr16 54446770 54446771 AA - het . 1 +intergenic LINC02140(dist=305730),LOC101927480(dist=170818) chr16 54710341 54710344 GAAG - het . 2 +intergenic LINC02140(dist=366088),LOC101927480(dist=110463) chr16 54770699 54770699 C A het . 3 +intergenic LINC02140(dist=366109),LOC101927480(dist=110442) chr16 54770720 54770720 C T het . 2 +intergenic IRX5(dist=261007),IRX6(dist=129069) chr16 55229402 55229402 - AGAG het . 2 +intergenic IRX5(dist=342378),IRX6(dist=47698) chr16 55310773 55310773 - AC het . 2 +ncRNA_intronic MMP2-AS1 chr16 55462044 55462044 G A het . 2 +intronic SLC6A2 chr16 55735912 55735912 C T het . 4 +ncRNA_intronic CES1P2 chr16 55762260 55762260 T C het . 4 +ncRNA_intronic CES1P2 chr16 55767440 55767440 A G het . 3 +ncRNA_intronic CES1P2 chr16 55767558 55767558 T C het . 7 +ncRNA_intronic CES1P2 chr16 55767564 55767564 A T het . 7 +ncRNA_exonic CES1P2 chr16 55784047 55784047 A G het . 8 +intergenic CES1P2(dist=7687),CES1P1(dist=2697) chr16 55791810 55791814 TTTCT - het . 3 +ncRNA_intronic CES1P1 chr16 55794849 55794849 C T het . 1 +ncRNA_intronic CES1P1 chr16 55801202 55801202 C T het . 3 +ncRNA_intronic CES1P1 chr16 55806532 55806532 - AATACCT het . 7 +intronic CES1 chr16 55844926 55844926 - C het . 19 +intronic CES1 chr16 55866894 55866894 - A het . 8 +intergenic CES1(dist=7308),CES5A(dist=5683) chr16 55874383 55874383 C T het . 4 +intergenic CES1(dist=8162),CES5A(dist=4829) chr16 55875237 55875237 A G het . 1 +intronic CES5A chr16 55887450 55887450 G C het . 2 +ncRNA_intronic LOC283856 chr16 56163414 56163414 C T het . 1 +intronic AMFR chr16 56403899 56403899 C T het . 1 +intronic AMFR chr16 56441862 56441862 A G het . 7 +intronic NUDT21 chr16 56466648 56466648 G A het . 15 +exonic OGFOD1 chr16 56501179 56501179 C A het . 18 +exonic BBS2 chr16 56518700 56518700 G A het . 29 +intronic BBS2 chr16 56535194 56535196 AAA - het . 13 +upstream MT4(dist=57) chr16 56598904 56598904 G A het . 1 +upstream MT1M(dist=89) chr16 56666445 56666445 T A het . 2 +intronic NUP93 chr16 56849777 56849777 - CTGCTG het . 11 +intronic NUP93 chr16 56876468 56876469 TT - het . 5 +intronic SLC12A3 chr16 56945218 56945218 C T het . 2 +exonic HERPUD1 chr16 56969361 56969361 T C het . 27 +downstream CETP(dist=6) chr16 57017762 57017762 C G het . 2 +downstream CETP(dist=40) chr16 57017796 57017796 G A het . 2 +intronic NLRC5 chr16 57047245 57047245 - ATAG het . 7 +intronic NLRC5 chr16 57047273 57047273 T C het . 4 +exonic NLRC5 chr16 57054695 57054695 A C het . 28 +exonic NLRC5 chr16 57071113 57071114 TA CG het . 17 +intronic NLRC5 chr16 57071335 57071335 G A het . 2 +intronic NLRC5 chr16 57111825 57111825 T C het . 6 +intronic CPNE2 chr16 57155457 57155457 T C het . 5 +intronic FAM192A chr16 57197745 57197745 G T het . 2 +intronic FAM192A chr16 57206637 57206637 G A het . 4 +exonic RSPRY1 chr16 57238740 57238740 A C het . 35 +intergenic CX3CL1(dist=15921),CCL17(dist=3798) chr16 57434881 57434881 A - het . 2 +exonic COQ9 chr16 57492200 57492200 C A het . 33 +intronic COQ9 chr16 57493803 57493808 CATTTG - het . 6 +intergenic DOK4(dist=2557),CCDC102A(dist=23148) chr16 57522942 57522942 T C het . 3 +intronic CCDC102A chr16 57551966 57551966 A T het . 4 +intronic ADGRG1 chr16 57690606 57690606 C A het . 6 +exonic ADGRG1 chr16 57691399 57691399 T G het . 14 +splicing ADGRG1(NM_001290143:exon10:c.761+2T>G,NM_001290142:exon10:c.776+2T>G,NM_001145770:exon11:c.1286+2T>G,NM_005682:exon11:c.1286+2T>G,NM_001145771:exon11:c.1286+2T>G,NM_001145773:exon10:c.1301+2T>G,NM_001145772:exon11:c.1286+2T>G,NM_201525:exon10:c.1286+2T>G,NM_201524:exon11:c.1286+2T>G,NM_001145774:exon11:c.1286+2T>G,NM_001290144:exon10:c.761+2T>G) chr16 57691405 57691405 T G het . 13 +intronic ADGRG1 chr16 57691421 57691421 T G het . 14 +UTR3 ADGRG1(NM_001290143:c.*38T>G,NM_001290142:c.*38T>G,NM_001145770:c.*38T>G,NM_005682:c.*38T>G,NM_001145771:c.*38T>G,NM_001145773:c.*38T>G,NM_001145772:c.*38T>G,NM_201525:c.*38T>G,NM_201524:c.*38T>G,NM_001145774:c.*38T>G,NM_001290144:c.*38T>G) chr16 57697532 57697532 T G het . 18 +UTR3 ADGRG1(NM_001290143:c.*74C>A,NM_001290142:c.*74C>A,NM_001145770:c.*74C>A,NM_005682:c.*74C>A,NM_001145771:c.*74C>A,NM_001145773:c.*74C>A,NM_001145772:c.*74C>A,NM_201525:c.*74C>A,NM_201524:c.*74C>A,NM_001145774:c.*74C>A,NM_001290144:c.*74C>A) chr16 57697568 57697568 C A het . 7 +intronic ADGRG3 chr16 57707456 57707456 C A het . 7 +exonic ADGRG3 chr16 57718058 57718058 C A het . 12 +intronic KIFC3 chr16 57803873 57803873 C A het . 6 +intronic KIFC3 chr16 57806030 57806030 A G het . 2 +intergenic LOC388282(dist=60161),CNGB1(dist=5252) chr16 57910992 57910992 C T het . 4 +intergenic LOC388282(dist=60187),CNGB1(dist=5226) chr16 57911018 57911018 C A het . 2 +intronic CNGB1 chr16 57931206 57931209 AAAA - het . 10 +intronic CNGB1 chr16 57933234 57933234 A T het . 2 +intronic CNGB1 chr16 57937895 57937895 G A het . 17 +intronic CNGB1 chr16 57950178 57950178 G C het . 21 +intronic CNGB1 chr16 57951510 57951510 A G het . 8 +intronic CNGB1 chr16 57951512 57951512 G A het . 8 +intronic CNGB1 chr16 57951533 57951533 C T het . 3 +intronic CNGB1 chr16 57951535 57951535 C T het . 2 +intronic CNGB1 chr16 57957138 57957138 G C het . 6 +intronic CNGB1 chr16 57966843 57966843 G A het . 2 +intronic CNGB1 chr16 57970705 57970705 - AC het . 6 +intronic USB1 chr16 58036347 58036347 G A het . 19 +intergenic MMP15(dist=45626),CFAP20(dist=21067) chr16 58126430 58126430 - ATCAAGTCGA het . 27 +intergenic CSNK2A2(dist=27232),CCDC113(dist=24784) chr16 58259056 58259056 C A het . 2 +intergenic CSNK2A2(dist=32100),CCDC113(dist=19916) chr16 58263924 58263924 A G het . 1 +intergenic CSNK2A2(dist=48254),CCDC113(dist=3762) chr16 58280078 58280078 G A het . 2 +intronic CCDC113 chr16 58313566 58313566 T G het . 12 +intronic CCDC113 chr16 58313579 58313579 T - het . 8 +intronic PRSS54 chr16 58318722 58318722 T - het . 5 +intronic PRSS54 chr16 58326470 58326470 - T het . 2 +intronic GINS3 chr16 58428981 58428982 TT - het . 4 +intronic NDRG4 chr16 58540062 58540062 C G het . 2 +UTR3 NDRG4(NM_020465:c.*424A>C,NM_001130487:c.*424A>C,NM_001363869:c.*424A>C,NM_022910:c.*424A>C,NM_001242833:c.*424A>C,NM_001242835:c.*424A>C,NM_001242834:c.*424A>C,NM_001242836:c.*424A>C) chr16 58545904 58545904 A C het . 10 +intronic CNOT1 chr16 58573528 58573528 - A het . 2 +intronic CNOT1 chr16 58589112 58589112 G A het . 5 +intronic CNOT1 chr16 58594341 58594341 T - het . 7 +intergenic CNOT1(dist=20912),SLC38A7(dist=14311) chr16 58684702 58684702 - A het . 2 +intergenic CNOT1(dist=24402),SLC38A7(dist=10821) chr16 58688192 58688192 C T het . 2 +intergenic SLC38A7(dist=10911),GOT2(dist=11443) chr16 58729592 58729592 - T het . 2 +intergenic SLC38A7(dist=16554),GOT2(dist=5800) chr16 58735235 58735235 C T het . 4 +intronic GOT2 chr16 58756283 58756283 T - het . 13 +intergenic GOT2(dist=382210),APOOP5(dist=637574) chr16 59150471 59150471 C T het . 1 +intergenic GOT2(dist=769714),APOOP5(dist=250070) chr16 59537975 59537975 T - het . 3 +ncRNA_intronic LINC02141 chr16 59909946 59909946 - AAAC het . 4 +downstream LOC729159(dist=436) chr16 60391153 60391153 G T het . 11 +intergenic LOC729159(dist=13783),MIR4426(dist=682131) chr16 60407480 60407480 C T het . 2 +intergenic LOC729159(dist=50801),MIR4426(dist=645113) chr16 60444498 60444498 T G het . 2 +intergenic LOC729159(dist=77714),MIR4426(dist=618200) chr16 60471411 60471411 G A het . 3 +intergenic LOC729159(dist=152063),MIR4426(dist=543851) chr16 60545760 60545760 C T het . 2 +intergenic LOC729159(dist=294887),MIR4426(dist=401027) chr16 60688584 60688584 A - het . 5 +intergenic LOC729159(dist=299491),MIR4426(dist=396423) chr16 60693188 60693188 A G het . 1 +intergenic LOC729159(dist=323215),MIR4426(dist=372699) chr16 60716912 60716912 - TTCTTT het . 9 +intergenic LOC729159(dist=443313),MIR4426(dist=252601) chr16 60837010 60837010 C T het . 3 +intergenic LOC729159(dist=443349),MIR4426(dist=252565) chr16 60837046 60837046 T A het . 3 +intergenic LOC729159(dist=443364),MIR4426(dist=252550) chr16 60837061 60837061 A G het . 2 +intergenic LOC729159(dist=588980),MIR4426(dist=106934) chr16 60982677 60982677 A T het . 2 +upstream MIR4426(dist=193) chr16 61089863 61089863 - C het . 14 +exonic CDH8 chr16 61935348 61935348 T A het . 14 +intergenic CDH8(dist=213109),NONE(dist=NONE) chr16 62283848 62283848 G A het . 2 +intergenic CDH8(dist=402850),NONE(dist=NONE) chr16 62473589 62473589 G T het . 2 +intergenic CDH8(dist=769649),NONE(dist=NONE) chr16 62840388 62840388 C A het . 3 +intergenic CDH8(dist=1656212),CDH11(dist=1250705) chr16 63726951 63726952 AA - het . 2 +intergenic CDH8(dist=1709765),CDH11(dist=1197153) chr16 63780504 63780504 - A het . 4 +intergenic CDH8(dist=1717211),CDH11(dist=1189707) chr16 63787950 63787950 C T het . 2 +intergenic CDH8(dist=1717224),CDH11(dist=1189694) chr16 63787963 63787963 T C het . 2 +intergenic CDH8(dist=1966649),CDH11(dist=940269) chr16 64037388 64037388 A - het . 1 +intergenic NONE(dist=NONE),CDH11(dist=567078) chr16 64410579 64410579 G A het . 2 +exonic CDH11 chr16 65005934 65005934 G A het . 18 +intergenic LINC02126(dist=100253),LINC00922(dist=7672) chr16 65310729 65310730 GG AT het . 2 +intergenic LINC00922(dist=156046),CDH5(dist=634261) chr16 65766249 65766249 A T het . 1 +intergenic LINC00922(dist=189368),CDH5(dist=600939) chr16 65799571 65799571 T G het . 2 +intergenic LINC00922(dist=233035),CDH5(dist=557272) chr16 65843238 65843238 - TGTT het . 2 +intergenic LINC00922(dist=258464),CDH5(dist=531843) chr16 65868667 65868667 C A het . 3 +intergenic LINC00922(dist=568999),CDH5(dist=221308) chr16 66179202 66179202 C T het . 2 +intergenic LINC00922(dist=593228),CDH5(dist=197078) chr16 66203431 66203432 AA - het . 3 +intergenic LINC00922(dist=593286),CDH5(dist=197021) chr16 66203489 66203489 A G het . 2 +intergenic LINC00922(dist=593334),CDH5(dist=196973) chr16 66203537 66203537 G A het . 2 +intergenic LINC00922(dist=772506),CDH5(dist=17801) chr16 66382709 66382709 T A het . 2 +exonic CDH5 chr16 66436722 66436722 G A het . 13 +ncRNA_intronic LINC00920 chr16 66443790 66443790 C T het . 2 +downstream TK2(dist=348) chr16 66541558 66541558 T G het . 2 +intronic TK2 chr16 66575895 66575895 G A het . 36 +intronic CMTM4 chr16 66700921 66700921 C T het . 1 +UTR3 DYNC1LI2(NM_001323955:c.*66G>T,NM_006141:c.*66G>T,NM_001286157:c.*66G>T) chr16 66757559 66757559 C A het . 6 +intronic DYNC1LI2 chr16 66757729 66757729 A - het . 6 +intronic DYNC1LI2 chr16 66764809 66764809 G T het . 1 +intronic DYNC1LI2 chr16 66782208 66782208 A T het . 2 +intronic DYNC1LI2 chr16 66782469 66782472 TTCA - het . 2 +downstream LOC106699570,TERB1(dist=47) chr16 66788832 66788832 C A het . 10 +exonic TERB1 chr16 66792714 66792714 T C het . 11 +intronic NAE1 chr16 66842794 66842794 A T het . 4 +intronic NAE1 chr16 66851224 66851224 T C het . 11 +intergenic CA7(dist=14479),PDP2(dist=11736) chr16 66902528 66902528 A - het . 2 +intergenic CA7(dist=14517),PDP2(dist=11698) chr16 66902566 66902566 A G het . 2 +intronic RRAD chr16 66958254 66958254 G T het . 2 +intronic RRAD chr16 66958263 66958263 A G het . 2 +intronic CIAO2B chr16 66966527 66966527 C T het . 2 +intronic CBFB chr16 67116064 67116064 - T het . 6 +intronic CBFB chr16 67116066 67116066 A T het . 6 +exonic C16orf70 chr16 67166801 67166801 C A het . 7 +exonic B3GNT9 chr16 67183379 67183379 C T het . 5 +exonic B3GNT9 chr16 67183687 67183687 C A het . 16 +upstream E2F4(dist=824) chr16 67225244 67225244 A - het . 2 +intronic LRRC29 chr16 67257876 67257876 T G het . 6 +exonic ATP6V0D1 chr16 67472443 67472443 G A het . 9 +exonic RANBP10 chr16 67763279 67763281 GAG - het . 9 +intronic RANBP10 chr16 67806014 67806016 CAC - het . 5 +intronic TSNAXIP1 chr16 67843538 67843538 T A het . 3 +exonic THAP11 chr16 67876824 67876826 CAG - het . 13 +exonic THAP11 chr16 67876829 67876829 - CAGCAGCAGCAGCAGCAGCAA het . 17 +exonic EDC4 chr16 67913976 67913976 G A het . 9 +exonic CTRL chr16 67963973 67963973 C A het . 9 +exonic DDX28 chr16 68055495 68055495 G C het . 4 +intronic NFATC3 chr16 68126606 68126606 T C het . 2 +intronic NFATC3 chr16 68126635 68126635 C A het . 2 +intronic PRMT7 chr16 68347753 68347753 G A het . 2 +UTR3 SMPD3(NM_018667:c.*15C>T) chr16 68395094 68395094 G A het . 7 +intronic ZFP90 chr16 68584502 68584502 T C het . 1 +intronic ZFP90 chr16 68584526 68584526 C T het . 2 +intronic CDH3 chr16 68707818 68707818 - A het . 3 +intronic CDH3 chr16 68729112 68729112 A G het . 17 +UTR3 CDH3(NM_001317196:c.*87G>C,NM_001317195:c.*320G>C,NM_001793:c.*87G>C) chr16 68732390 68732390 G C het . 7 +exonic CDH1 chr16 68849446 68849446 A T het . 30 +exonic CDH1 chr16 68863650 68863650 T G het . 22 +intronic TANGO6 chr16 68953188 68953188 C T het . 9 +intronic UTP4 chr16 69184323 69184323 C A het . 10 +intronic UTP4 chr16 69194486 69194486 A C het . 7 +intronic SNTB2 chr16 69313742 69313742 - T het . 3 +intronic SNTB2 chr16 69313767 69313767 A T het . 3 +intronic SNTB2 chr16 69313771 69313771 A T het . 3 +intronic VPS4A chr16 69352919 69352919 G A het . 6 +intronic TERF2 chr16 69402544 69402544 C A het . 21 +intronic CYB5B chr16 69472512 69472512 T - het . 2 +intronic CYB5B chr16 69492974 69492975 TT - het . 9 +intergenic CYB5B(dist=59642),MIR1538(dist=39902) chr16 69559809 69559809 - TCTTT het . 2 +intronic NFAT5 chr16 69660276 69660276 T C het . 6 +intronic NFAT5 chr16 69678687 69678687 C A het . 14 +intronic NFAT5 chr16 69710964 69710964 C T het . 9 +exonic NFAT5 chr16 69727530 69727532 CAG - het . 19 +intronic NQO1 chr16 69752464 69752464 C G het . 1 +intronic NOB1 chr16 69784670 69784670 T C het . 1 +intronic WWP2 chr16 69942609 69942609 G - het . 4 +intronic WWP2 chr16 69965397 69965398 TT - het . 13 +intronic WWP2 chr16 69967732 69967732 G A het . 3 +ncRNA_intronic PDXDC2P-NPIPB14P chr16 70016416 70016416 T A het . 33 +intergenic PDXDC2P-NPIPB14P(dist=34445),PDPR(dist=13233) chr16 70134296 70134296 A T het . 4 +intronic PDPR chr16 70176322 70176323 TT - het . 17 +exonic AARS chr16 70287912 70287912 C A het . 29 +intronic DDX19A chr16 70390853 70390853 C A het . 3 +intronic COG4 chr16 70515600 70515600 T G het . 13 +intronic IL34 chr16 70675803 70675803 C A het . 2 +exonic IL34 chr16 70690511 70690511 T C het . 29 +intronic MTSS1L chr16 70704743 70704743 C A het . 2 +intronic MTSS1L chr16 70713654 70713654 G C het . 11 +intronic VAC14 chr16 70755129 70755129 G A het . 1 +intronic VAC14 chr16 70755144 70755144 G A het . 1 +intronic HYDIN chr16 71209762 71209762 C A het . 17 +exonic HYDIN chr16 71212943 71212943 C A het . 12 +intronic HYDIN chr16 71212979 71212979 T C het . 12 +intronic CALB2 chr16 71417770 71417770 A C het . 5 +intronic CALB2 chr16 71417780 71417780 A C het . 5 +intronic CALB2 chr16 71417783 71417783 C T het . 5 +intronic ZNF19 chr16 71512760 71512760 C A het . 5 +exonic CHST4 chr16 71571658 71571658 C T het . 14 +exonic MARVELD3 chr16 71660404 71660404 G A het . 34 +exonic MARVELD3 chr16 71660454 71660454 G A het . 26 +exonic MARVELD3 chr16 71674882 71674882 C G het . 6 +intronic PHLPP2 chr16 71701248 71701248 G A het . 6 +intronic PHLPP2 chr16 71715915 71715915 - A het . 3 +intronic PHLPP2 chr16 71731718 71731718 - T het . 1 +intronic PHLPP2 chr16 71731720 71731720 C T het . 1 +intronic PHLPP2 chr16 71736702 71736702 - TATTTT het . 16 +intronic AP1G1 chr16 71772795 71772795 G A het . 2 +intronic AP1G1 chr16 71775080 71775080 C T het . 4 +intronic AP1G1 chr16 71793673 71793673 A T het . 1 +exonic AP1G1 chr16 71798254 71798254 C A het . 9 +intergenic AP1G1(dist=12343),ATXN1L(dist=24575) chr16 71855319 71855319 A - het . 2 +intergenic AP1G1(dist=16854),ATXN1L(dist=20064) chr16 71859830 71859830 A T het . 2 +intergenic AP1G1(dist=23202),ATXN1L(dist=13716) chr16 71866178 71866178 T A het . 2 +intronic IST1 chr16 71955400 71955400 T G het . 9 +intronic IST1 chr16 71955426 71955426 - AT het . 12 +exonic IST1 chr16 71956512 71956517 ATGCCC - het . 11 +intronic PKD1L3 chr16 71971091 71971091 T C het . 2 +exonic;splicing PKD1L3;PKD1L3(NM_181536:exon22:c.3694+1->CAAA) chr16 71981414 71981414 - TTTG het . 23 +exonic PKD1L3 chr16 71986946 71986946 A G het . 5 +intronic PKD1L3 chr16 71987960 71987960 - C het . 4 +intronic PKD1L3 chr16 72007210 72007210 C T het . 10 +intronic PKD1L3 chr16 72017298 72017298 A G het . 2 +intronic DHODH chr16 72042825 72042825 T G het . 3 +intronic HP chr16 72089958 72089958 - TG het . 10 +intronic DHX38 chr16 72133211 72133211 G A het . 2 +intronic DHX38 chr16 72142111 72142111 T G het . 7 +exonic PMFBP1 chr16 72173189 72173189 T - het . 14 +intergenic PMFBP1(dist=17986),LINC01572(dist=92865) chr16 72224335 72224335 C T het . 1 +ncRNA_intronic LINC01572 chr16 72437250 72437256 AAAGGCA - het . 3 +ncRNA_intronic LINC01572 chr16 72644946 72644946 G A het . 2 +intergenic LINC01572(dist=64961),ZFHX3(dist=52917) chr16 72763869 72763869 A - het . 5 +exonic ZFHX3 chr16 72831771 72831771 C A het . 15 +intronic ZFHX3 chr16 72838899 72838899 G T het . 2 +exonic ZFHX3 chr16 72984617 72984617 G A het . 22 +exonic ZFHX3 chr16 72984641 72984641 C A het . 19 +exonic ZFHX3 chr16 72991660 72991660 C G het . 30 +exonic ZFHX3 chr16 72991715 72991715 A G het . 25 +intergenic HCCAT5(dist=10823),C16orf47(dist=22042) chr16 73138495 73138495 G A het . 2 +intergenic HCCAT5(dist=26877),C16orf47(dist=5988) chr16 73154549 73154549 C T het . 2 +intergenic HCCAT5(dist=27501),C16orf47(dist=5364) chr16 73155173 73155173 C T het . 2 +intergenic C16orf47(dist=153768),LINC01568(dist=88590) chr16 73332114 73332114 - A het . 1 +intergenic LINC01568(dist=61955),LOC101928035(dist=709041) chr16 73517250 73517250 - AG het . 13 +intergenic LINC01568(dist=140423),LOC101928035(dist=630573) chr16 73595718 73595718 C T het . 2 +intergenic LINC01568(dist=169989),LOC101928035(dist=601007) chr16 73625284 73625284 C A het . 2 +intergenic LINC01568(dist=192050),LOC101928035(dist=578946) chr16 73647345 73647345 G T het . 2 +intergenic LINC01568(dist=356202),LOC101928035(dist=414794) chr16 73811497 73811497 T C het . 2 +intergenic LINC01568(dist=560605),LOC101928035(dist=210391) chr16 74015900 74015900 G A het . 2 +intergenic LINC01568(dist=720394),LOC101928035(dist=50602) chr16 74175689 74175689 G A het . 3 +intergenic LINC01568(dist=720400),LOC101928035(dist=50596) chr16 74175695 74175695 G A het . 3 +intergenic LINC01568(dist=749173),LOC101928035(dist=21823) chr16 74204468 74204468 T G het . 1 +intergenic LOC101928035(dist=66861),PSMD7(dist=14392) chr16 74316281 74316281 C A het . 12 +exonic NPIPB15 chr16 74425548 74425548 A G het . 35 +exonic NPIPB15 chr16 74425569 74425569 C T het . 33 +intronic CLEC18B chr16 74444160 74444160 G A het . 2 +intronic GLG1 chr16 74497630 74497630 - TTG het . 2 +intronic GLG1 chr16 74566091 74566093 AAT - het . 10 +intronic GLG1 chr16 74622443 74622443 A G het . 2 +intronic GLG1 chr16 74630183 74630183 T C het . 2 +intronic MLKL chr16 74724933 74724933 A G het . 1 +splicing WDR59(NM_030581:exon10:c.886+2T>A,NM_001324171:exon10:c.886+2T>A,NM_001324172:exon10:c.886+2T>A) chr16 74955843 74955843 A T het . 4 +upstream WDR59(dist=26) chr16 75019070 75019070 C A het . 1 +intronic ZNRF1 chr16 75074493 75074493 - G het . 2 +intronic ZNRF1 chr16 75115376 75115376 A G het . 2 +intronic ZNRF1 chr16 75138927 75138927 A G het . 3 +intergenic LDHD(dist=15197),ZFP1(dist=16472) chr16 75165867 75165867 A - het . 3 +intronic ZFP1 chr16 75198710 75198710 - A het . 2 +intronic CFDP1 chr16 75398034 75398034 A - het . 2 +intronic CFDP1 chr16 75398053 75398053 - C het . 2 +intronic CFDP1 chr16 75401113 75401113 T C het . 2 +intronic CFDP1 chr16 75429252 75429252 T C het . 5 +intronic CFDP1 chr16 75431708 75431708 T A het . 2 +intronic CFDP1 chr16 75445906 75445906 C T het . 9 +intergenic CFDP1(dist=1396),TMEM170A(dist=8359) chr16 75468783 75468783 - TTTTGTT het . 2 +intergenic CFDP1(dist=7900),TMEM170A(dist=1855) chr16 75475287 75475287 A C het . 3 +exonic CHST5 chr16 75563929 75563929 C A het . 23 +intronic KARS chr16 75670541 75670541 - T het . 14 +intronic KARS chr16 75674253 75674253 A - het . 13 +intergenic CPHXL(dist=259144),CNTNAP4(dist=291583) chr16 76019532 76019532 T - het . 2 +intergenic CPHXL(dist=286026),CNTNAP4(dist=264701) chr16 76046414 76046414 C T het . 2 +intergenic CPHXL(dist=311569),CNTNAP4(dist=239158) chr16 76071957 76071957 T G het . 2 +intergenic CPHXL(dist=311595),CNTNAP4(dist=239132) chr16 76071983 76071983 T C het . 2 +intergenic CPHXL(dist=371911),CNTNAP4(dist=178816) chr16 76132299 76132299 C A het . 2 +exonic CNTNAP4 chr16 76311602 76311602 - T het . 20 +intronic CNTNAP4 chr16 76513698 76513698 A G het . 3 +intronic CNTNAP4 chr16 76528725 76528725 T A het . 8 +intronic CNTNAP4 chr16 76575950 76575950 G A het . 2 +intronic CNTNAP4 chr16 76575959 76575959 T C het . 2 +intergenic CNTNAP4(dist=33176),LINC02125(dist=41069) chr16 76627823 76627826 TTTT - het . 2 +intergenic LINC02125(dist=114878),MIR4719(dist=95580) chr16 76807253 76807253 T G het . 3 +intergenic LINC02125(dist=116078),MIR4719(dist=94380) chr16 76808453 76808453 - AGAG het . 2 +intergenic LINC02125(dist=116094),MIR4719(dist=94364) chr16 76808469 76808469 - AGAA het . 3 +intergenic MIR4719(dist=146780),MON1B(dist=175120) chr16 77049696 77049696 G C het . 2 +intergenic MIR4719(dist=229476),MON1B(dist=92424) chr16 77132392 77132392 A T het . 2 +intronic MON1B chr16 77225718 77225718 C G het . 2 +intronic SYCE1L chr16 77245971 77245971 G A het . 8 +intergenic SYCE1L(dist=37165),ADAMTS18(dist=31959) chr16 77284066 77284066 G C het . 2 +exonic ADAMTS18 chr16 77317954 77317954 C T het . 31 +intronic ADAMTS18 chr16 77318021 77318022 TT - het . 8 +intronic ADAMTS18 chr16 77327226 77327226 C A het . 15 +exonic ADAMTS18 chr16 77387732 77387732 A G het . 25 +intronic ADAMTS18 chr16 77393446 77393450 GAAAA - het . 4 +intronic ADAMTS18 chr16 77393450 77393450 A C het . 5 +intronic ADAMTS18 chr16 77393451 77393451 A C het . 4 +intronic ADAMTS18 chr16 77397449 77397449 G A het . 3 +exonic ADAMTS18 chr16 77401593 77401593 C T het . 28 +intronic ADAMTS18 chr16 77412248 77412249 AA - het . 2 +intronic ADAMTS18 chr16 77412253 77412253 A C het . 2 +intronic ADAMTS18 chr16 77465550 77465550 A G het . 33 +intronic ADAMTS18 chr16 77465616 77465616 C A het . 21 +intergenic ADAMTS18(dist=124119),NUDT7(dist=163259) chr16 77593130 77593130 C A het . 1 +intergenic ADAMTS18(dist=260336),NUDT7(dist=27042) chr16 77729347 77729347 T - het . 5 +intronic NUDT7 chr16 77759266 77759266 C A het . 5 +intronic NUDT7 chr16 77769277 77769277 G T het . 2 +intronic NUDT7 chr16 77769288 77769288 C T het . 4 +intronic VAT1L chr16 77903702 77903702 C A het . 3 +intronic VAT1L chr16 77969507 77969507 G A het . 2 +intronic VAT1L chr16 77971388 77971388 A C het . 2 +UTR5 CLEC3A(NM_005752:c.-22C>A) chr16 78056475 78056475 C A het . 9 +intronic WWOX chr16 78239911 78239911 C G het . 3 +intronic WWOX chr16 78394538 78394538 G C het . 3 +intronic WWOX chr16 78458750 78458750 G A het . 24 +intronic WWOX chr16 78527053 78527053 C G het . 1 +intronic WWOX chr16 78552921 78552921 G C het . 2 +intronic WWOX chr16 78561116 78561116 G A het . 3 +intronic WWOX chr16 78686323 78686323 - AAAAAG het . 2 +intronic WWOX chr16 78859464 78859464 G T het . 8 +intronic WWOX chr16 79197671 79197671 G A het . 2 +intronic WWOX chr16 79237901 79237901 T C het . 1 +intronic WWOX chr16 79245465 79245465 T C het . 22 +intergenic WWOX(dist=8938),MAF(dist=372243) chr16 79255502 79255502 C T het . 2 +intergenic WWOX(dist=235238),MAF(dist=145943) chr16 79481802 79481802 A G het . 1 +intergenic WWOX(dist=326205),MAF(dist=54969) chr16 79572769 79572776 AAAGAAAG - het . 2 +intergenic WWOX(dist=332859),MAF(dist=48322) chr16 79579423 79579423 A - het . 3 +intergenic WWOX(dist=341463),MAF(dist=39718) chr16 79588027 79588027 A C het . 7 +intergenic WWOX(dist=373005),MAF(dist=8176) chr16 79619569 79619569 T C het . 5 +intergenic WWOX(dist=373164),MAF(dist=8015) chr16 79619728 79619730 AAA - het . 6 +UTR3 MAF(NM_001031804:c.*4068_*4069insT) chr16 79628609 79628609 - A het . 7 +intergenic MAF(dist=97093),MAFTRR(dist=23494) chr16 79731715 79731715 T C het . 3 +intergenic LINC01229(dist=162835),LOC102724084(dist=191780) chr16 79998075 79998075 T G het . 7 +intergenic LINC01229(dist=163035),LOC102724084(dist=191580) chr16 79998275 79998275 G T het . 2 +ncRNA_intronic LOC102724084 chr16 80409282 80409282 A C het . 2 +ncRNA_intronic LOC102724084 chr16 80539963 80539963 A G het . 2 +ncRNA_intronic LOC102724084 chr16 80571309 80571309 T A het . 2 +ncRNA_intronic LOC102724084 chr16 80582619 80582619 G A het . 3 +intronic CDYL2 chr16 80708269 80708269 T G het . 2 +intronic CDYL2 chr16 80730647 80730647 T C het . 2 +intronic CDYL2 chr16 80730657 80730657 G A het . 2 +intronic CDYL2 chr16 80769567 80769567 C T het . 1 +intronic CDYL2 chr16 80798820 80798820 A G het . 2 +intronic CMC2 chr16 81014324 81014324 G C het . 1 +intronic CMC2 chr16 81015635 81015635 C A het . 4 +intronic CMC2 chr16 81023708 81023708 T - het . 2 +intronic CMC2 chr16 81023712 81023712 - TT het . 2 +intronic CMC2 chr16 81023745 81023745 C T het . 2 +intronic CMC2 chr16 81030840 81030840 C A het . 14 +intronic CENPN chr16 81042559 81042559 C G het . 2 +intronic CENPN chr16 81047662 81047662 C A het . 5 +intronic CENPN chr16 81061232 81061232 T C het . 2 +intronic CENPN chr16 81061237 81061237 C T het . 2 +intronic CENPN chr16 81062030 81062030 G T het . 8 +intronic CENPN chr16 81062152 81062153 TT - het . 15 +intronic CENPN chr16 81062157 81062157 T C het . 15 +intronic CENPN chr16 81062171 81062171 C T het . 17 +intronic CENPN chr16 81066160 81066160 T - het . 10 +intronic ATMIN chr16 81074800 81074800 A G het . 7 +intronic C16orf46 chr16 81087886 81087886 C - het . 4 +UTR3 C16orf46(NM_152337:c.*6T>C) chr16 81094760 81094760 A G het . 4 +intergenic C16orf46(dist=1272),GCSH(dist=3408) chr16 81112144 81112144 A T het . 1 +intronic GCSH chr16 81118289 81118289 C T het . 16 +intronic GCSH chr16 81118317 81118319 TTT - het . 12 +intronic GCSH chr16 81121102 81121102 A - het . 15 +intronic GCSH chr16 81127471 81127471 T C het . 2 +intronic GCSH chr16 81127581 81127581 G A het . 2 +intronic PKD1L2 chr16 81159067 81159067 G A het . 2 +intronic PKD1L2 chr16 81168826 81168826 A T het . 2 +exonic PKD1L2 chr16 81180978 81180978 C T het . 26 +exonic PKD1L2 chr16 81180988 81180988 C G het . 28 +intronic PKD1L2 chr16 81219329 81219329 G T het . 2 +exonic PKD1L2 chr16 81242149 81242150 TT - het . 7 +exonic PKD1L2 chr16 81242151 81242151 T C het . 7 +intronic BCO1 chr16 81272626 81272628 TTT - het . 19 +intronic GAN chr16 81360148 81360148 G A het . 2 +intronic GAN chr16 81385525 81385525 C T het . 3 +intronic GAN chr16 81387990 81387990 T C het . 10 +exonic CMIP chr16 81478894 81478894 C A het . 16 +UTR5 CMIP(NM_030629:c.-66C>A) chr16 81529016 81529016 C A het . 9 +intronic CMIP chr16 81568064 81568064 T G het . 2 +intronic CMIP chr16 81593832 81593832 - G het . 2 +intronic CMIP chr16 81593837 81593837 T G het . 2 +intronic CMIP chr16 81654390 81654390 C G het . 3 +intronic CMIP chr16 81654392 81654392 G A het . 3 +intergenic CMIP(dist=16648),PLCG2(dist=50848) chr16 81762015 81762015 C T het . 2 +intergenic CMIP(dist=19452),PLCG2(dist=48044) chr16 81764819 81764819 C T het . 1 +intronic PLCG2 chr16 81816818 81816818 C T het . 9 +intronic PLCG2 chr16 81883396 81883396 A C het . 2 +intronic PLCG2 chr16 81891998 81891998 G C het . 10 +intronic PLCG2 chr16 81892042 81892044 GGA - het . 10 +intronic PLCG2 chr16 81892048 81892048 A C het . 11 +intronic PLCG2 chr16 81901904 81901904 C T het . 2 +intronic PLCG2 chr16 81901919 81901919 T - het . 2 +intronic PLCG2 chr16 81904434 81904434 G - het . 11 +intronic HSD17B2 chr16 82087829 82087829 G C het . 2 +intergenic HSD17B2(dist=30109),MPHOSPH6(dist=19519) chr16 82162248 82162248 G C het . 2 +intergenic MPHOSPH6(dist=6704),CDH13(dist=449866) chr16 82210533 82210533 A G het . 2 +intergenic MPHOSPH6(dist=6714),CDH13(dist=449856) chr16 82210543 82210543 T G het . 2 +intergenic MPHOSPH6(dist=50797),CDH13(dist=405773) chr16 82254626 82254626 G A het . 2 +intergenic MPHOSPH6(dist=50809),CDH13(dist=405761) chr16 82254638 82254638 A G het . 2 +intergenic MPHOSPH6(dist=50813),CDH13(dist=405757) chr16 82254642 82254642 A G het . 2 +intergenic MPHOSPH6(dist=50830),CDH13(dist=405736) chr16 82254659 82254663 CTTTC - het . 1 +intergenic MPHOSPH6(dist=94619),CDH13(dist=361951) chr16 82298448 82298448 G A het . 1 +intergenic MPHOSPH6(dist=189024),CDH13(dist=267546) chr16 82392853 82392853 G T het . 3 +intergenic MPHOSPH6(dist=440185),CDH13(dist=16385) chr16 82644014 82644014 C T het . 11 +intergenic MPHOSPH6(dist=440221),CDH13(dist=16349) chr16 82644050 82644050 G A het . 9 +intergenic MPHOSPH6(dist=440244),CDH13(dist=16326) chr16 82644073 82644073 - A het . 5 +intergenic MPHOSPH6(dist=440257),CDH13(dist=16313) chr16 82644086 82644086 A G het . 4 +intergenic MPHOSPH6(dist=440290),CDH13(dist=16280) chr16 82644119 82644119 - A het . 7 +ncRNA_intronic LOC101928446 chr16 82808490 82808490 C G het . 2 +intronic CDH13 chr16 82869732 82869732 C T het . 3 +intronic CDH13 chr16 82924660 82924660 A T het . 2 +intronic CDH13 chr16 83040547 83040547 A T het . 5 +intronic CDH13 chr16 83065904 83065904 T C het . 3 +intronic CDH13 chr16 83065906 83065906 T C het . 3 +exonic CDH13 chr16 83214480 83214480 C A het . 19 +intronic CDH13 chr16 83275427 83275427 A G het . 3 +intronic CDH13 chr16 83327014 83327014 C T het . 2 +intronic CDH13 chr16 83533838 83533838 C T het . 6 +intronic CDH13 chr16 83563767 83563767 G A het . 1 +intronic CDH13 chr16 83668059 83668059 G A het . 1 +intronic CDH13 chr16 83816828 83816828 A G het . 9 +intergenic MLYCD(dist=34989),OSGIN1(dist=2051) chr16 83984776 83984776 A C het . 11 +exonic OSGIN1 chr16 83999000 83999000 C G het . 1 +exonic NECAB2 chr16 84012145 84012145 C A het . 14 +intronic NECAB2 chr16 84031979 84031979 G A het . 5 +intronic NECAB2 chr16 84034019 84034019 G A het . 2 +intronic NECAB2 chr16 84034435 84034452 AGGGAGACAGAGGGAAGT - het . 14 +intronic NECAB2 chr16 84034552 84034552 G C het . 1 +downstream MBTPS1(dist=721) chr16 84086645 84086645 T A het . 1 +splicing MBTPS1(NM_003791:exon14:c.1783-1G>T) chr16 84103644 84103644 C A het . 6 +exonic DNAAF1 chr16 84203939 84203939 C T het . 28 +exonic TAF1C chr16 84213254 84213254 C T het . 20 +exonic TAF1C chr16 84215069 84215069 C A het . 14 +exonic TAF1C chr16 84218565 84218565 T C het . 6 +exonic ADAD2 chr16 84224967 84224967 G A het . 4 +intergenic ADAD2(dist=19254),KCNG4(dist=4715) chr16 84250026 84250026 A - het . 2 +intergenic KCNG4(dist=45650),WFDC1(dist=9306) chr16 84319006 84319006 G T het . 1 +intronic ATP2C2 chr16 84449206 84449206 T C het . 3 +intronic ATP2C2 chr16 84454035 84454036 TT GC het . 2 +intronic ATP2C2 chr16 84454070 84454073 CTTT - het . 4 +intronic ATP2C2 chr16 84487118 84487118 G A het . 1 +exonic ATP2C2 chr16 84493144 84493144 C G het . 19 +UTR3 MEAK7(NM_020947:c.*56A>C) chr16 84513463 84513463 T G het . 3 +UTR3 MEAK7(NM_020947:c.*32C>G) chr16 84513487 84513487 G C het . 2 +exonic MEAK7 chr16 84520292 84520292 C T het . 6 +intergenic MEAK7(dist=12260),COTL1(dist=48656) chr16 84550548 84550548 A C het . 1 +intergenic MEAK7(dist=12272),COTL1(dist=48644) chr16 84550560 84550560 A C het . 1 +intergenic MEAK7(dist=12276),COTL1(dist=48640) chr16 84550564 84550564 C G het . 2 +intergenic KLHL36(dist=30895),USP10(dist=1365) chr16 84732187 84732190 TTTC - het . 1 +intronic USP10 chr16 84766019 84766019 T C het . 12 +exonic CRISPLD2 chr16 84883102 84883102 C T het . 11 +intronic CRISPLD2 chr16 84884072 84884072 T G het . 2 +intronic CRISPLD2 chr16 84884116 84884116 A G het . 6 +intronic CRISPLD2 chr16 84907500 84907500 T - het . 4 +intronic KIAA0513 chr16 85078117 85078117 T - het . 4 +intronic KIAA0513 chr16 85120609 85120609 A G het . 4 +intronic FAM92B chr16 85139173 85139173 G T het . 3 +intronic C16orf74 chr16 85765298 85765299 TT - het . 3 +intronic EMC8 chr16 85814899 85814899 - AGTC het . 11 +intronic COX4I1 chr16 85839186 85839186 C T het . 2 +intronic COX4I1 chr16 85839211 85839211 G C het . 2 +intronic COX4I1 chr16 85840036 85840036 A - het . 15 +intergenic COX4I1(dist=9590),IRF8(dist=82210) chr16 85850199 85850199 A T het . 2 +intergenic IRF8(dist=261446),LINC01082(dist=12123) chr16 86217661 86217664 AAAC - het . 10 +downstream LINC00917(dist=810) chr16 86364646 86364646 T C het . 2 +ncRNA_intronic LINC00917 chr16 86369306 86369306 C A het . 7 +intergenic LINC00917(dist=111041),FENDRR(dist=17802) chr16 86490326 86490329 TCTT - het . 4 +ncRNA_exonic FLJ30679 chr16 86590891 86590891 A T het . 6 +intergenic FOXL1(dist=42974),LINC02189(dist=96012) chr16 86658278 86658278 T C het . 2 +intergenic LINC02188(dist=1593),LINC02181(dist=318365) chr16 86773025 86773025 T A het . 3 +intergenic LINC02188(dist=281589),LINC02181(dist=38369) chr16 87053021 87053021 - AAAC het . 3 +intergenic LINC02188(dist=283784),LINC02181(dist=36174) chr16 87055216 87055216 T C het . 2 +intergenic LINC02188(dist=285230),LINC02181(dist=34728) chr16 87056662 87056662 - AG het . 3 +intergenic LINC02188(dist=287846),LINC02181(dist=32112) chr16 87059278 87059278 C T het . 1 +intergenic LINC02188(dist=317831),LINC02181(dist=2126) chr16 87089263 87089264 AA - het . 2 +intergenic LINC02181(dist=14724),LOC101928708(dist=133396) chr16 87112321 87112325 AAAAG - het . 6 +intergenic LINC02181(dist=39871),LOC101928708(dist=108253) chr16 87137468 87137468 T - het . 3 +intergenic LINC02181(dist=71298),LOC101928708(dist=76826) chr16 87168895 87168895 G A het . 2 +intergenic LINC02181(dist=93988),LOC101928708(dist=54136) chr16 87191585 87191585 C A het . 3 +intergenic LINC02181(dist=104668),LOC101928708(dist=43456) chr16 87202265 87202265 C A het . 2 +intergenic LINC02181(dist=137422),LOC101928708(dist=10693) chr16 87235019 87235028 TTTTTTCACT - het . 3 +intronic FBXO31 chr16 87376623 87376623 C G het . 2 +intronic ZCCHC14 chr16 87452403 87452403 A G het . 19 +intronic ZCCHC14 chr16 87454148 87454148 T C het . 3 +intergenic LOC101928737(dist=38471),JPH3(dist=48786) chr16 87587707 87587707 C T het . 2 +intronic JPH3 chr16 87655167 87655167 A G het . 2 +intronic JPH3 chr16 87655190 87655190 A G het . 2 +UTR3 JPH3(NM_020655:c.*47C>A) chr16 87730313 87730313 C A het . 19 +intergenic JPH3(dist=3766),KLHDC4(dist=5891) chr16 87735527 87735527 G A het . 17 +intergenic LOC102724467(dist=10019),SLC7A5(dist=40849) chr16 87822773 87822773 G A het . 4 +intronic SLC7A5 chr16 87872488 87872488 G A het . 8 +intronic SLC7A5 chr16 87874182 87874182 T C het . 18 +intronic SLC7A5 chr16 87874198 87874198 C A het . 15 +intronic SLC7A5 chr16 87874218 87874221 GGGA - het . 14 +intronic BANP chr16 88007342 88007342 G A het . 2 +intronic BANP chr16 88007358 88007358 A T het . 2 +intronic BANP chr16 88105053 88105053 T A het . 3 +intergenic BANP(dist=17735),LOC400553(dist=4354) chr16 88128659 88128661 CAT - het . 5 +intergenic LOC400553(dist=39967),LINC02182(dist=53329) chr16 88174558 88174558 A C het . 2 +intergenic LINC02182(dist=120700),ZNF469(dist=144356) chr16 88349523 88349523 C T het . 1 +exonic ZNF469 chr16 88504679 88504679 C A het . 16 +intronic ZC3H18 chr16 88664758 88664758 T C het . 2 +intronic ZC3H18 chr16 88664765 88664765 A C het . 2 +intronic ZC3H18 chr16 88664767 88664767 A C het . 2 +intronic ZC3H18 chr16 88690576 88690576 A C het . 4 +intronic CYBA chr16 88711639 88711639 C A het . 27 +UTR3 RNF166(NM_001171815:c.*1043_*1044insA,NM_001171816:c.*1043_*1044insA,NM_178841:c.*1043_*1044insA) chr16 88762932 88762932 - T het . 16 +UTR3 RNF166(NM_001171815:c.*1033T>A,NM_001171816:c.*1033T>A,NM_178841:c.*1033T>A) chr16 88762943 88762943 A T het . 20 +exonic CTU2 chr16 88779132 88779132 C T het . 5 +intronic CTU2 chr16 88780518 88780518 A G het . 5 +intronic PIEZO1 chr16 88784136 88784136 C A het . 25 +intronic PIEZO1 chr16 88792097 88792097 A G het . 4 +intronic PIEZO1 chr16 88793090 88793090 A G het . 6 +intronic PIEZO1 chr16 88793103 88793103 C G het . 6 +intronic PIEZO1 chr16 88793910 88793910 C T het . 3 +exonic PIEZO1 chr16 88804734 88804734 A G het . 30 +ncRNA_exonic LOC339059 chr16 88809480 88809480 A G het . 9 +exonic CDT1 chr16 88874632 88874632 C G het . 15 +intronic APRT chr16 88876666 88876666 C G het . 9 +intronic GALNS chr16 88901850 88901850 T A het . 14 +intronic PABPN1L chr16 88931914 88931914 T C het . 5 +intronic ACSF3 chr16 89164540 89164540 G A het . 2 +exonic ACSF3 chr16 89167094 89167094 T C het . 2 +intronic ACSF3 chr16 89169205 89169205 C G het . 13 +intronic ACSF3 chr16 89169220 89169221 CT - het . 9 +intronic ACSF3 chr16 89169312 89169312 T C het . 2 +intronic ACSF3 chr16 89178474 89178474 T C het . 14 +UTR3 ACSF3(NM_001127214:c.*358_*359insAAAT,NM_001243279:c.*358_*359insAAAT,NM_001284316:c.*358_*359insAAAT,NM_174917:c.*358_*359insAAAT) chr16 89220973 89220973 - AAAT het . 20 +intronic CDH15 chr16 89254405 89254421 AGGAGGGAGGGTGGGAG - het . 4 +intronic CDH15 chr16 89254429 89254429 T A het . 5 +exonic ZNF778 chr16 89291210 89291210 - GTGA het . 13 +intronic ZNF778 chr16 89291309 89291309 A T het . 3 +intronic ZNF778 chr16 89291357 89291357 A G het . 1 +intronic ZNF778 chr16 89291945 89291945 - T het . 23 +intronic ZNF778 chr16 89291948 89291948 C T het . 24 +intronic ZNF778 chr16 89291951 89291951 C T het . 24 +intergenic ZNF778(dist=3315),ANKRD11(dist=34749) chr16 89299280 89299280 T A het . 11 +intergenic ZNF778(dist=3418),ANKRD11(dist=34646) chr16 89299383 89299383 G C het . 11 +intergenic ZNF778(dist=4160),ANKRD11(dist=33882) chr16 89300125 89300147 TATGCAACTCAACTCGCACTGCA - het . 5 +intergenic ZNF778(dist=8748),ANKRD11(dist=29315) chr16 89304713 89304714 AA - het . 2 +intronic ANKRD11 chr16 89371827 89371827 G A het . 25 +intronic ANKRD11 chr16 89371839 89371839 G A het . 23 +intergenic ANKRD11(dist=13071),SPG7(dist=4756) chr16 89570040 89570040 C - het . 2 +intronic SPG7 chr16 89576874 89576874 G T het . 12 +intronic SPG7 chr16 89576876 89576876 A T het . 12 +intronic SPG7 chr16 89576879 89576879 G T het . 12 +intronic SPG7 chr16 89597259 89597259 G A het . 25 +intronic CPNE7 chr16 89650371 89650371 T G het . 2 +intronic DPEP1 chr16 89703424 89703424 A G het . 2 +exonic DPEP1 chr16 89704598 89704598 G A het . 2 +UTR3 SPATA33(NM_153025:c.*18G>C,NM_001271910:c.*220G>C,NM_001271908:c.*18G>C,NM_001271907:c.*18G>C,NM_001271909:c.*18G>C) chr16 89735923 89735923 G C het . 10 +intronic VPS9D1 chr16 89774396 89774396 G A het . 3 +intronic VPS9D1 chr16 89774411 89774411 T C het . 2 +intronic VPS9D1 chr16 89778224 89778224 G C het . 6 +UTR3 FANCA(NM_001286167:c.*770delA,NM_000135:c.*673delA) chr16 89804336 89804336 T - het . 8 +intronic FANCA chr16 89811196 89811196 T C het . 1 +splicing FANCA(NM_001286167:exon28:c.2778+1G>T,NM_000135:exon28:c.2778+1G>T) chr16 89831297 89831297 C A het . 30 +intronic FANCA chr16 89839989 89840017 TTATAAACGAGTTTCATAAAAAATTACAT - het . 2 +intronic FANCA chr16 89842029 89842029 C G het . 4 +intronic FANCA chr16 89842374 89842374 T G het . 7 +intronic FANCA chr16 89846195 89846195 A G het . 10 +intronic FANCA chr16 89857622 89857622 T C het . 2 +intronic TCF25 chr16 89944843 89944843 T - het . 5 +intronic TCF25 chr16 89952397 89952397 C T het . 34 +intronic TCF25 chr16 89954997 89954997 A - het . 2 +intronic TCF25 chr16 89958193 89958193 G A het . 1 +intronic TCF25 chr16 89958218 89958218 A G het . 2 +intronic TCF25 chr16 89958222 89958222 G A het . 2 +intronic TCF25 chr16 89958233 89958233 C T het . 2 +intronic TCF25 chr16 89970746 89970746 G T het . 3 +intronic TCF25 chr16 89972532 89972532 A C het . 3 +exonic MC1R chr16 89986117 89986117 C T het . 4 +exonic MC1R chr16 89986130 89986130 T C het . 4 +intronic TUBB3 chr16 89998951 89998951 - C het . 18 +intronic TUBB3 chr16 89998952 89998952 - C het . 17 +intronic DEF8 chr16 90030355 90030355 T C het . 3 +exonic CENPBD1 chr16 90038158 90038158 C A het . 37 +intronic GAS8 chr16 90099061 90099061 C T het . 3 +UTR3 PRDM7(NM_001098173:c.*424C>A) chr16 90124273 90124273 G T het . 11 +intronic PRDM7 chr16 90141289 90141290 AA - het . 20 +intergenic PRDM7(dist=19039),FAM157B(dist=7090) chr16 90161377 90161377 G A het . 2 +ncRNA_exonic FAM157C chr16 90168695 90168697 GCA - het . 19 +ncRNA_intronic FAM157B,FAM157C chr16 90171254 90171254 C G het . 4 +intronic RPH3AL chr17 108547 108547 C T het . 2 +intronic RPH3AL chr17 131502 131502 A C het . 1 +intronic RPH3AL chr17 131516 131516 C A het . 2 +intergenic RPH3AL(dist=11323),LOC105371430(dist=40370) chr17 213956 213956 - AGAT het . 1 +intergenic RPH3AL(dist=19885),LOC105371430(dist=31808) chr17 222518 222518 C T het . 1 +intergenic RPH3AL(dist=37163),LOC105371430(dist=14530) chr17 239796 239796 G - het . 2 +intergenic RPH3AL(dist=41628),LOC105371430(dist=10065) chr17 244261 244261 T A het . 2 +intronic VPS53 chr17 436245 436245 C A het . 14 +exonic VPS53 chr17 489566 489566 G A het . 41 +intronic VPS53 chr17 505250 505250 A G het . 3 +intronic VPS53 chr17 526958 526958 T G het . 10 +intronic VPS53 chr17 560604 560604 T C het . 4 +exonic VPS53 chr17 613801 613801 T C het . 11 +intronic MRM3 chr17 686589 686589 - T het . 7 +intronic NXN chr17 707058 707058 T G het . 5 +intronic NXN chr17 779439 779439 G A het . 1 +intronic NXN chr17 779448 779448 G C het . 1 +intronic ABR chr17 944959 944959 G A het . 1 +intronic ABR chr17 961967 961967 A C het . 4 +intronic ABR chr17 961973 961973 A C het . 4 +intronic ABR chr17 961977 961977 A C het . 6 +intronic ABR chr17 970251 970252 TG CA het . 2 +UTR5 ABR(NM_001282149:c.-103G>T) chr17 982202 982202 C A het . 3 +intronic ABR chr17 1004072 1004072 T - het . 8 +intronic ABR chr17 1004108 1004108 G A het . 6 +intronic ABR chr17 1067920 1067920 T A het . 2 +intronic ABR chr17 1118099 1118099 G A het . 5 +intronic ABR chr17 1118103 1118103 A T het . 4 +intronic ABR chr17 1118105 1118105 A T het . 4 +intergenic ABR(dist=1658),BHLHA9(dist=39226) chr17 1134632 1134632 A - het . 3 +UTR5 TRARG1(NM_172367:c.-163T>C) chr17 1183133 1183133 T C het . 1 +intronic YWHAE chr17 1268445 1268445 A - het . 9 +intergenic YWHAE(dist=5939),CRK(dist=15152) chr17 1309495 1309495 A - het . 2 +intronic CRK chr17 1328217 1328217 T A het . 1 +intronic CRK chr17 1331430 1331430 T A het . 1 +intronic MYO1C chr17 1370459 1370459 T C het . 8 +intronic MYO1C chr17 1371818 1371818 C T het . 7 +exonic MYO1C chr17 1381398 1381398 C T het . 25 +intronic MYO1C chr17 1382837 1382838 AG - het . 13 +intronic MYO1C chr17 1382844 1382844 G C het . 12 +intronic MYO1C chr17 1387335 1387335 A - het . 9 +intronic MYO1C chr17 1388294 1388294 C A het . 8 +intronic MYO1C chr17 1388973 1388973 C T het . 2 +intronic INPP5K chr17 1412456 1412456 C - het . 10 +intronic SLC43A2 chr17 1490409 1490409 T C het . 2 +intronic SLC43A2 chr17 1493972 1493972 T G het . 3 +intronic SLC43A2 chr17 1493999 1493999 G C het . 7 +exonic RILP chr17 1553040 1553040 C T het . 24 +exonic PRPF8 chr17 1563820 1563820 C A het . 33 +UTR3 TLCD2(NM_001164407:c.*2035A>C) chr17 1609029 1609029 T G het . 2 +intronic TLCD2 chr17 1612582 1612582 G A het . 2 +intronic WDR81 chr17 1625432 1625432 T A het . 3 +exonic WDR81 chr17 1637074 1637074 A G het . 6 +exonic SMYD4 chr17 1686410 1686410 T C het . 14 +intronic RPA1 chr17 1798261 1798261 C A het . 10 +intronic RTN4RL1 chr17 1873372 1873372 A G het . 3 +intronic RTN4RL1 chr17 1874554 1874554 T C het . 2 +intronic DPH1 chr17 1943046 1943046 C A het . 15 +intronic SMG6 chr17 2078890 2078890 G A het . 2 +intronic SMG6 chr17 2187401 2187401 G A het . 1 +intronic SRR chr17 2211343 2211343 A T het . 3 +exonic TSR1 chr17 2238942 2238942 G A het . 26 +intronic SGSM2 chr17 2253083 2253083 T A het . 1 +intronic SGSM2 chr17 2253087 2253087 G T het . 1 +intronic SGSM2 chr17 2261148 2261148 C T het . 3 +intronic METTL16 chr17 2369162 2369162 A G het . 3 +intergenic METTL16(dist=45546),PAFAH1B1(dist=36177) chr17 2460746 2460746 G T het . 3 +intronic PAFAH1B1 chr17 2552056 2552056 A T het . 2 +exonic PAFAH1B1 chr17 2570401 2570401 C T het . 50 +intronic CLUH chr17 2595216 2595216 C - het . 2 +exonic CLUH chr17 2601266 2601266 C T het . 10 +exonic CLUH chr17 2601543 2601543 C A het . 14 +intronic RAP1GAP2 chr17 2699935 2699935 T C het . 7 +intronic RAP1GAP2 chr17 2706008 2706008 G T het . 1 +intronic RAP1GAP2 chr17 2727415 2727415 A - het . 2 +intronic RAP1GAP2 chr17 2935591 2935591 T C het . 4 +exonic OR1E1 chr17 3301306 3301316 GGTGTAGTGCA - het . 18 +intergenic OR1E1(dist=9661),OR3A3(dist=12497) chr17 3311365 3311365 C G het . 1 +intronic SPATA22 chr17 3352455 3352455 - AA het . 8 +intronic SPATA22 chr17 3354434 3354434 A G het . 1 +intronic ASPA,SPATA22 chr17 3395048 3395048 A G het . 2 +intronic SPATA22 chr17 3405252 3405252 A C het . 1 +intronic TRPV3 chr17 3423548 3423548 G A het . 2 +exonic TRPV3 chr17 3436080 3436080 C T het . 27 +exonic TRPV3 chr17 3445901 3445901 T G het . 27 +intronic TRPV1 chr17 3492503 3492503 - T het . 2 +UTR3 CTNS(NM_004937:c.*1943delA,NM_001031681:c.*1578delA) chr17 3565606 3565606 A - het . 2 +ncRNA_intronic P2RX5-TAX1BP3 chr17 3587042 3587042 A G het . 1 +intronic ITGAE chr17 3622546 3622546 - AAAAG het . 2 +exonic HASPIN chr17 3628540 3628540 C A het . 12 +intronic ITGAE chr17 3635371 3635371 - AAACAAAC het . 2 +exonic ITGAE chr17 3664409 3664409 C T het . 18 +exonic ITGAE chr17 3665254 3665254 C A het . 10 +intronic NCBP3 chr17 3746537 3746537 - T het . 7 +intronic CAMKK1 chr17 3776867 3776867 C T het . 4 +intronic ATP2A3 chr17 3846581 3846581 C - het . 6 +intronic ZZEF1 chr17 3948343 3948343 G A het . 2 +exonic ZZEF1 chr17 3959532 3959532 T C het . 6 +intronic ZZEF1 chr17 4000142 4000142 G A het . 6 +intronic ZZEF1 chr17 4000182 4000182 A C het . 4 +intronic ZZEF1 chr17 4020943 4020945 AAA - het . 6 +intronic ZZEF1 chr17 4027514 4027514 C T het . 2 +intronic ANKFY1 chr17 4071302 4071302 G C het . 5 +exonic ANKFY1 chr17 4082338 4082338 T G het . 16 +intronic ANKFY1 chr17 4105474 4105474 T G het . 4 +intronic ANKFY1 chr17 4146377 4146377 G T het . 10 +intronic UBE2G1 chr17 4204232 4204232 C A het . 2 +intronic UBE2G1 chr17 4205335 4205335 C A het . 5 +intergenic UBE2G1(dist=57334),SPNS3(dist=9916) chr17 4327303 4327303 A G het . 2 +intronic SPNS3 chr17 4350407 4350407 G C het . 1 +exonic SPNS2 chr17 4402547 4402547 A C het . 4 +exonic SPNS2 chr17 4402552 4402552 A C het . 4 +exonic SPNS2 chr17 4402562 4402562 A C het . 8 +exonic SPNS2 chr17 4402571 4402571 A C het . 10 +intronic SPNS2 chr17 4439313 4439313 A G het . 3 +intronic SPNS2 chr17 4439501 4439501 C G het . 2 +intronic SPNS2 chr17 4439532 4439532 T C het . 3 +UTR3 SPNS2(NM_001124758:c.*295G>A) chr17 4441038 4441038 G A het . 12 +intronic MYBBP1A chr17 4451792 4451792 A C het . 16 +intronic MYBBP1A chr17 4458314 4458314 C T het . 5 +exonic GGT6 chr17 4463796 4463796 G A het . 17 +exonic GGT6 chr17 4463799 4463799 C A het . 17 +upstream ALOX15(dist=10) chr17 4544978 4544978 - AGA het . 9 +intronic PELP1 chr17 4580224 4580224 C T het . 2 +intronic PELP1 chr17 4594847 4594847 T C het . 5 +exonic CXCL16 chr17 4642151 4642151 G A het . 14 +exonic TM4SF5 chr17 4686182 4686182 T G het . 6 +exonic VMO1 chr17 4689572 4689572 T C het . 10 +intergenic GLTPD2(dist=1856),PSMB6(dist=3699) chr17 4695740 4695740 A C het . 2 +intronic PLD2 chr17 4723556 4723556 T G het . 2 +exonic MINK1 chr17 4796274 4796274 T C het . 7 +exonic MINK1 chr17 4796286 4796286 C T het . 8 +intronic MINK1 chr17 4796656 4796656 T C het . 13 +UTR3 CHRNE(NM_000080:c.*65C>T) chr17 4801966 4801966 G A het . 10 +intronic CHRNE chr17 4802471 4802476 GGGCCA - het . 21 +intergenic CHRNE(dist=26828),GP1BA(dist=2349) chr17 4833221 4833221 A G het . 2 +UTR5 GP1BA(NM_000173:c.-5T>C) chr17 4835895 4835895 T C het . 5 +exonic GP1BA chr17 4837309 4837309 C A het . 32 +intronic ENO3 chr17 4856517 4856517 C A het . 35 +intronic ENO3 chr17 4859112 4859112 C T het . 3 +intronic SPAG7 chr17 4863410 4863410 A G het . 14 +intronic SPAG7 chr17 4863938 4863938 A C het . 6 +exonic CAMTA2 chr17 4883818 4883818 C G het . 2 +UTR5 CAMTA2(NM_001171166:c.-16_-15insG,NM_015099:c.-1423_-1422insG) chr17 4890939 4890939 - C het . 6 +intronic KIF1C chr17 4904438 4904438 C A het . 3 +exonic KIF1C chr17 4923869 4923869 C G het . 11 +exonic KIF1C chr17 4923871 4923871 C G het . 11 +intergenic SLC52A1(dist=33552),ZFP3(dist=9475) chr17 4972279 4972279 - AAAC het . 4 +intronic ZFP3 chr17 4994782 4994782 C A het . 18 +exonic USP6 chr17 5038559 5038559 C A het . 17 +exonic USP6 chr17 5038569 5038569 T A het . 23 +exonic USP6 chr17 5038576 5038576 C T het . 22 +exonic USP6 chr17 5040946 5040946 A C het . 14 +intronic USP6 chr17 5066305 5066305 A T het . 7 +UTR3 ZNF594(NM_032530:c.*155G>T) chr17 5084973 5084973 C A het . 20 +ncRNA_intronic LOC100130950 chr17 5095754 5095754 A G het . 1 +ncRNA_intronic LOC100130950 chr17 5124444 5124444 T A het . 10 +ncRNA_intronic LOC100130950 chr17 5127734 5127737 TTTT - het . 3 +ncRNA_intronic LOC100130950 chr17 5131471 5131471 C A het . 1 +intergenic LOC100130950(dist=7747),RABEP1(dist=38513) chr17 5147045 5147045 G A het . 3 +intronic RABEP1 chr17 5268337 5268337 A T het . 14 +intronic RABEP1 chr17 5268357 5268358 AA - het . 8 +UTR5 RPAIN(NM_001160266:c.-156C>T,NM_001160246:c.-156C>T,NM_001160244:c.-156C>T,NM_001033002:c.-156C>T,NM_001160243:c.-156C>T) chr17 5323375 5323375 C T het . 6 +intronic RPAIN chr17 5324588 5324588 C T het . 5 +intronic RPAIN chr17 5328633 5328633 G A het . 13 +intronic RPAIN chr17 5328660 5328661 TT - het . 12 +intronic RPAIN chr17 5328661 5328661 T C het . 14 +intronic RPAIN chr17 5328662 5328662 T C het . 14 +intronic RPAIN chr17 5334850 5334850 G A het . 11 +intronic RPAIN chr17 5334874 5334874 A - het . 13 +intronic C1QBP chr17 5336791 5336791 G T het . 11 +intronic C1QBP chr17 5338302 5338315 AAAACAGACAAGGC - het . 12 +intronic C1QBP chr17 5340389 5340389 C - het . 2 +intronic NLRP1 chr17 5415418 5415418 A C het . 6 +intergenic NLRP1(dist=161498),LOC339166(dist=26224) chr17 5649330 5649330 T C het . 1 +ncRNA_intronic LOC339166 chr17 5706623 5706623 A G het . 2 +ncRNA_intronic LOC339166 chr17 5766332 5766332 C T het . 3 +ncRNA_intronic LOC339166 chr17 5819018 5819018 T C het . 2 +intergenic LOC339166(dist=77988),WSCD1(dist=61930) chr17 5912004 5912004 G T het . 2 +intergenic LOC339166(dist=78008),WSCD1(dist=61910) chr17 5912024 5912024 T C het . 3 +intergenic LOC339166(dist=133097),WSCD1(dist=6821) chr17 5967113 5967113 T A het . 2 +intergenic WSCD1(dist=19372),AIPL1(dist=279938) chr17 6047119 6047119 C A het . 3 +intergenic WSCD1(dist=19383),AIPL1(dist=279927) chr17 6047130 6047130 A G het . 3 +exonic PITPNM3 chr17 6364711 6364711 C T het . 17 +intronic PITPNM3 chr17 6451064 6451064 T - het . 2 +UTR5 PITPNM3(NM_031220:c.-24C>T,NM_001165966:c.-24C>T) chr17 6459750 6459750 G A het . 2 +intergenic PITPNM3(dist=3957),KIAA0753(dist=17809) chr17 6463834 6463836 TCC - het . 3 +intergenic PITPNM3(dist=17380),KIAA0753(dist=4388) chr17 6477257 6477257 A G het . 3 +intronic KIAA0753 chr17 6493990 6493990 C A het . 17 +intronic TXNDC17 chr17 6545702 6545702 C T het . 3 +intronic MED31 chr17 6548480 6548480 C T het . 2 +upstream ALOX15P1(dist=61) chr17 6560977 6560977 C A het . 6 +exonic TEKT1 chr17 6718542 6718542 G A het . 8 +ncRNA_intronic ALOX12P2 chr17 6777623 6777623 C T het . 2 +ncRNA_intronic ALOX12P2 chr17 6779192 6779192 A T het . 4 +intergenic ALOX12P2(dist=62494),ALOX12-AS1(dist=22280) chr17 6866162 6866162 A T het . 2 +intergenic ALOX12P2(dist=81096),ALOX12-AS1(dist=3678) chr17 6884764 6884764 G A het . 3 +intergenic ALOX12P2(dist=81100),ALOX12-AS1(dist=3674) chr17 6884768 6884768 G A het . 3 +exonic ALOX12 chr17 6902743 6902743 G A het . 5 +exonic ALOX12 chr17 6902760 6902760 A G het . 3 +ncRNA_intronic RNASEK-C17orf49 chr17 6917456 6917456 A C het . 10 +intronic BCL6B chr17 6927350 6927350 A G het . 3 +exonic BCL6B chr17 6928019 6928019 - CAG het . 13 +downstream BCL6B(dist=256) chr17 6933217 6933217 T G het . 11 +intronic SLC16A13 chr17 6942963 6942963 C A het . 5 +UTR5 ACADVL(NM_001270448:c.-707_-706insGGGCGTGCAGGACGC,NM_001033859:c.-64_-63insGGGCGTGCAGGACGC,NM_000018:c.-64_-63insGGGCGTGCAGGACGC),DLG4(NM_001365:c.-1073_-1072insGCGTCCTGCACGCCC,NM_001321074:c.-1073_-1072insGCGTCCTGCACGCCC) chr17 7123240 7123240 - GGGCGTGCAGGACGC het . 24 +intronic ACADVL chr17 7124751 7124751 T - het . 5 +intronic ACADVL chr17 7124753 7124768 AGGAACTGCCCTAGGT - het . 6 +intronic GABARAP chr17 7145492 7145492 - A het . 4 +intronic YBX2 chr17 7196768 7196768 A C het . 22 +exonic NEURL4 chr17 7221890 7221890 A C het . 6 +intronic NEURL4 chr17 7226957 7226957 G A het . 7 +exonic ACAP1 chr17 7245371 7245371 A G het . 6 +intronic ACAP1 chr17 7254334 7254334 A C het . 12 +intronic TMEM95 chr17 7259073 7259073 C T het . 3 +intronic TNK1 chr17 7288433 7288433 C T het . 2 +intronic NLGN2 chr17 7317647 7317647 - C het . 6 +intronic SPEM2 chr17 7329282 7329282 T G het . 6 +intronic CHRNB1 chr17 7351836 7351836 A G het . 4 +exonic SLC35G6 chr17 7386279 7386280 TG CA het . 4 +intronic POLR2A chr17 7401543 7401543 C A het . 9 +intronic POLR2A chr17 7401572 7401572 A T het . 8 +exonic POLR2A chr17 7416683 7416683 A G het . 17 +intergenic POLR2A(dist=5147),TNFSF12-TNFSF13(dist=29292) chr17 7423082 7423083 CA - het . 2 +upstream;downstream SENP3,SENP3-EIF4A1(dist=161);TNFSF12-TNFSF13,TNFSF13(dist=223) chr17 7465148 7465148 G T het . 2 +exonic SENP3 chr17 7466559 7466559 A C het . 10 +ncRNA_exonic;splicing SENP3-EIF4A1;SENP3(NM_015670:exon7:c.1305+1A>-,NM_015670:exon8:c.1306-1A>-) chr17 7470286 7470286 A - het . 29 +ncRNA_intronic SENP3-EIF4A1 chr17 7476290 7476290 A C het . 8 +ncRNA_intronic SENP3-EIF4A1 chr17 7476296 7476296 T G het . 6 +ncRNA_intronic SENP3-EIF4A1 chr17 7476307 7476307 T G het . 5 +ncRNA_intronic SENP3-EIF4A1 chr17 7478419 7478419 C A het . 18 +exonic CD68 chr17 7483317 7483317 A C het . 22 +exonic MPDU1 chr17 7487265 7487265 C A het . 38 +exonic MPDU1 chr17 7490787 7490787 C A het . 35 +intronic SHBG chr17 7531244 7531244 C A het . 1 +intronic SHBG chr17 7533025 7533025 G A het . 1 +intronic SHBG chr17 7533367 7533367 C T het . 3 +UTR5 ATP1B2(NM_001678:c.-65C>T) chr17 7554772 7554772 C T het . 13 +UTR5 ATP1B2(NM_001678:c.-20A>C) chr17 7554817 7554817 A C het . 13 +intergenic ATP1B2(dist=2738),TP53(dist=7893) chr17 7563827 7563827 C - het . 2 +intronic TP53 chr17 7579644 7579659 CCCCAGCCCTCCAGGT - het . 8 +UTR5 TP53(NM_001126118:c.-232C>G) chr17 7579801 7579801 G C het . 23 +exonic DNAH2 chr17 7663246 7663246 A G het . 13 +exonic DNAH2 chr17 7674660 7674660 G A het . 12 +intronic DNAH2 chr17 7708164 7708164 A - het . 5 +exonic KDM6B chr17 7750232 7750232 T C het . 5 +intronic KDM6B chr17 7750847 7750847 T C het . 18 +intronic NAA38 chr17 7775250 7775250 G C het . 2 +upstream;downstream KCNAB3(dist=13);TRAPPC1(dist=897) chr17 7832766 7832766 A G het . 2 +exonic CNTROB chr17 7846836 7846836 A T het . 6 +intergenic CNTROB(dist=5346),GUCY2D(dist=47405) chr17 7858583 7858583 - A het . 4 +intergenic GUCY2D(dist=9702),ALOX15B(dist=8998) chr17 7933360 7933360 G C het . 2 +intergenic GUCY2D(dist=15570),ALOX15B(dist=3130) chr17 7939228 7939228 T A het . 2 +exonic ALOX15B chr17 7942901 7942901 C G het . 7 +intergenic ALOX15B(dist=9649),ALOX12B(dist=13851) chr17 7962100 7962103 AAAG - het . 2 +intronic ALOXE3 chr17 8009331 8009331 A C het . 3 +intronic ALOXE3 chr17 8009337 8009337 G T het . 3 +exonic PER1 chr17 8046772 8046772 C G het . 2 +intronic PER1 chr17 8052526 8052532 AAAAACA - het . 10 +intergenic BORCS6(dist=5619),AURKB(dist=8866) chr17 8099183 8099183 G A het . 2 +downstream AURKB(dist=70) chr17 8107979 8107979 G T het . 1 +intergenic AURKB(dist=5777),LINC00324(dist=4227) chr17 8119721 8119721 T - het . 2 +exonic CTC1 chr17 8132763 8132763 T C het . 4 +intronic PFAS chr17 8157664 8157664 C A het . 7 +intronic PFAS chr17 8159232 8159232 A G het . 4 +exonic PFAS chr17 8167600 8167600 T C het . 17 +UTR3 SLC25A35(NM_201520:c.*530G>A,NM_001320872:c.*397G>A) chr17 8192404 8192404 C T het . 14 +intronic ARHGEF15 chr17 8222772 8222772 G A het . 3 +upstream ODF4(dist=618) chr17 8242540 8242540 C G het . 1 +intronic MYH10 chr17 8390506 8390506 C T het . 2 +intronic MYH10 chr17 8397228 8397228 C A het . 8 +intronic MYH10 chr17 8417007 8417007 T - het . 18 +intronic MYH10 chr17 8464962 8464962 A - het . 8 +intronic MYH10 chr17 8468489 8468489 C T het . 1 +intronic MYH10 chr17 8473182 8473182 G A het . 8 +intronic MYH10 chr17 8473342 8473342 G A het . 2 +intronic MYH10 chr17 8480068 8480068 C A het . 9 +intergenic MYH10(dist=69030),CCDC42(dist=30134) chr17 8603109 8603112 TTAT - het . 2 +intronic CCDC42 chr17 8636780 8636780 C T het . 2 +intronic CCDC42 chr17 8647057 8647057 T G het . 5 +exonic;splicing PIK3R6;PIK3R6(NM_001290211:exon17:c.1419+1->C,NM_001010855:exon17:c.1827+1->C) chr17 8725214 8725214 - G het . 19 +intronic PIK3R6 chr17 8736394 8736394 T C het . 2 +exonic NTN1 chr17 8926039 8926039 C A het . 24 +intronic NTN1 chr17 8999683 8999683 - CT het . 2 +intronic NTN1 chr17 9086338 9086338 G T het . 6 +intronic NTN1 chr17 9086345 9086345 T G het . 5 +intronic STX8 chr17 9154078 9154078 G C het . 8 +intronic STX8 chr17 9154118 9154118 C T het . 3 +intronic STX8 chr17 9158874 9158874 - ATAA het . 2 +intronic STX8 chr17 9289192 9289192 C T het . 2 +intronic CFAP52 chr17 9511428 9511428 C T het . 12 +UTR5 GAS7(NM_003644:c.-104A>C) chr17 9862727 9862727 T G het . 4 +intergenic GAS7(dist=60387),MYH13(dist=41928) chr17 10162255 10162255 C A het . 14 +intronic MYH13 chr17 10223574 10223574 A - het . 20 +intronic MYH13 chr17 10223586 10223586 A G het . 22 +intronic MYH13 chr17 10227708 10227708 C T het . 5 +intronic MYH13 chr17 10257225 10257225 G A het . 4 +intronic MYH13 chr17 10265670 10265670 C T het . 7 +ncRNA_intronic MYHAS chr17 10302313 10302313 A G het . 8 +ncRNA_intronic MYHAS chr17 10305236 10305236 G A het . 16 +ncRNA_intronic MYHAS chr17 10305458 10305458 C T het . 1 +ncRNA_intronic MYHAS chr17 10317165 10317165 T - het . 24 +ncRNA_intronic MYHAS chr17 10397856 10397856 G A het . 16 +ncRNA_intronic MYHAS chr17 10411335 10411335 - T het . 16 +ncRNA_intronic MYHAS chr17 10411370 10411370 T C het . 16 +ncRNA_intronic MYHAS chr17 10435325 10435325 - A het . 8 +ncRNA_intronic MYHAS chr17 10490269 10490269 G C het . 2 +downstream MYH3(dist=113) chr17 10531730 10531730 A G het . 6 +intronic MYH3 chr17 10533595 10533595 - T het . 38 +intronic MYH3 chr17 10533602 10533602 C T het . 38 +intronic MYH3 chr17 10535429 10535433 TTTTG - het . 16 +intronic MYH3 chr17 10543122 10543122 - A het . 26 +intronic MYH3 chr17 10543282 10543284 AAA - het . 24 +intronic MYH3 chr17 10544697 10544697 A - het . 34 +intronic MYH3 chr17 10544812 10544812 G T het . 2 +intronic MYH3 chr17 10544823 10544825 GTC - het . 1 +intronic MYH3 chr17 10545432 10545432 - AGTA het . 13 +intronic MYH3 chr17 10547483 10547486 AAAC - het . 5 +intronic MYH3 chr17 10553937 10553937 A G het . 5 +intronic MYH3 chr17 10554190 10554190 G A het . 2 +intronic MYH3 chr17 10554194 10554194 G T het . 2 +intronic MYH3 chr17 10555028 10555028 G A het . 7 +intronic MYH3 chr17 10555050 10555052 TTA - het . 1 +exonic MYH3 chr17 10558366 10558366 C A het . 36 +intronic SCO1 chr17 10599294 10599294 A C het . 5 +intronic SCO1 chr17 10599304 10599304 T C het . 5 +intronic ADPRM chr17 10614052 10614052 T - het . 3 +exonic TMEM220 chr17 10618815 10618815 C A het . 23 +intronic TMEM220 chr17 10619192 10619192 C T het . 3 +intronic TMEM220 chr17 10631606 10631606 T - het . 2 +intronic TMEM220 chr17 10632174 10632174 A G het . 3 +ncRNA_intronic TMEM220-AS1 chr17 10633933 10633933 A - het . 3 +ncRNA_intronic TMEM220-AS1 chr17 10633946 10633946 T A het . 3 +intergenic PIRT(dist=22587),SHISA6(dist=380735) chr17 10764005 10764005 A G het . 2 +intronic SHISA6 chr17 11160977 11160977 - A het . 4 +exonic SHISA6 chr17 11166786 11166786 G A het . 19 +intronic SHISA6 chr17 11311558 11311558 A T het . 2 +intronic SHISA6 chr17 11349152 11349152 T C het . 2 +UTR3 SHISA6(NM_001173462:c.*2C>T,NM_001173461:c.*2C>T,NM_207386:c.*2C>T) chr17 11461623 11461623 C T het . 2 +intronic DNAH9 chr17 11517528 11517528 - C het . 1 +intronic DNAH9 chr17 11517551 11517551 C T het . 2 +intronic DNAH9 chr17 11778074 11778074 - A het . 2 +intronic MAP2K4 chr17 11924471 11924471 C T het . 2 +intronic MAP2K4 chr17 11992530 11992530 A G het . 3 +intronic MAP2K4 chr17 12018858 12018858 - G het . 19 +intronic MAP2K4 chr17 12018871 12018871 A C het . 23 +intergenic MAP2K4(dist=13060),LINC00670(dist=393077) chr17 12060208 12060208 T C het . 2 +intergenic MAP2K4(dist=23765),LINC00670(dist=382372) chr17 12070913 12070913 A C het . 3 +intergenic MAP2K4(dist=49089),LINC00670(dist=357048) chr17 12096237 12096237 T A het . 2 +ncRNA_intronic LOC101928418 chr17 12608434 12608434 C A het . 8 +intronic MYOCD chr17 12626153 12626153 C T het . 5 +exonic MYOCD chr17 12661463 12661463 T A het . 32 +exonic MYOCD chr17 12666612 12666612 T C het . 6 +intronic ELAC2 chr17 12903332 12903332 G C het . 2 +intronic ELAC2 chr17 12910523 12910523 G A het . 4 +exonic ELAC2 chr17 12921153 12921153 G A het . 18 +intergenic ELAC2(dist=25692),LINC02093(dist=255425) chr17 12947073 12947073 T C het . 2 +intergenic ELAC2(dist=35470),LINC02093(dist=245647) chr17 12956851 12956851 G A het . 2 +intergenic ELAC2(dist=35486),LINC02093(dist=245631) chr17 12956867 12956867 G A het . 2 +intergenic ELAC2(dist=72471),LINC02093(dist=208646) chr17 12993852 12993852 A C het . 2 +intergenic ELAC2(dist=103347),LINC02093(dist=177770) chr17 13024728 13024728 C T het . 3 +intergenic ELAC2(dist=111737),LINC02093(dist=169380) chr17 13033118 13033118 G T het . 1 +ncRNA_exonic LINC02093 chr17 13204472 13204472 G A het . 2 +intergenic LINC02093(dist=16040),HS3ST3A1(dist=171197) chr17 13226117 13226152 TCCTTCCTTCCTTCTGTCCTTCCTTCCGTCCGTCCG - het . 2 +intergenic LINC02093(dist=16098),HS3ST3A1(dist=171174) chr17 13226175 13226175 G T het . 2 +intergenic LINC02093(dist=44191),HS3ST3A1(dist=143081) chr17 13254268 13254268 T - het . 2 +intergenic LINC02093(dist=44193),HS3ST3A1(dist=143079) chr17 13254270 13254270 A G het . 2 +intergenic HS3ST3A1(dist=224529),CDRT15P1(dist=198027) chr17 13729788 13729788 C A het . 2 +intronic COX10 chr17 13977813 13977813 - TTTA het . 19 +exonic COX10 chr17 14005484 14005484 T C het . 39 +intergenic CDRT15(dist=10256),HS3ST3B1(dist=53932) chr17 14150435 14150435 A G het . 1 +intergenic HS3ST3B1(dist=80310),LOC101928475(dist=585091) chr17 14333031 14333031 - TTT het . 3 +intronic PMP22 chr17 15153075 15153075 G A het . 2 +intergenic TEKT3(dist=24003),TVP23C-CDRT4(dist=70371) chr17 15268961 15268961 T C het . 1 +splicing CDRT4(NM_001204477:exon3:c.28+1->AAG),TVP23C-CDRT4(NM_001204478:exon6:c.537+1->AAG,NM_001204478:exon6:UTR3) chr17 15343524 15343524 - CTT het . 20 +intronic CDRT4,TVP23C-CDRT4 chr17 15347705 15347705 T C het . 3 +intronic TVP23C-CDRT4 chr17 15378610 15378614 GAAAA - het . 4 +exonic ZNF286A chr17 15609810 15609810 C T het . 7 +intronic ZNF286A chr17 15613115 15613115 T - het . 20 +intronic TBC1D26 chr17 15643382 15643382 A - het . 6 +intronic TBC1D26 chr17 15643382 15643382 - C het . 5 +intronic ADORA2B chr17 15865886 15865886 C A het . 2 +exonic ZSWIM7 chr17 15881366 15881366 C A het . 16 +intronic TTC19 chr17 15909728 15909728 A G het . 37 +intronic TTC19 chr17 15923709 15923709 C T het . 1 +intronic NCOR1 chr17 15941750 15941750 T - het . 2 +intronic NCOR1 chr17 15943033 15943033 T C het . 15 +intronic NCOR1 chr17 15943963 15943964 TT - het . 19 +exonic NCOR1 chr17 15974764 15974764 C A het . 24 +intronic NCOR1 chr17 15976558 15976558 T G het . 3 +intronic NCOR1 chr17 15984135 15984135 A - het . 12 +intronic NCOR1 chr17 16011494 16011494 A - het . 7 +intronic NCOR1 chr17 16040531 16040531 C A het . 12 +intronic NCOR1 chr17 16041306 16041306 C A het . 3 +intronic NCOR1 chr17 16056615 16056615 A - het . 17 +intronic CENPV chr17 16253229 16253229 A G het . 7 +ncRNA_exonic LRRC75A-AS1 chr17 16344524 16344524 A - het . 29 +intergenic ZNF624(dist=23678),CCDC144A(dist=12794) chr17 16580845 16580845 T A het . 1 +intergenic ZNF624(dist=29941),CCDC144A(dist=6531) chr17 16587108 16587108 C T het . 22 +intronic CCDC144A chr17 16649585 16649585 - T het . 8 +exonic TNFRSF13B chr17 16842912 16842912 A G het . 3 +intronic MPRIP chr17 17018177 17018177 G A het . 2 +intronic MPRIP chr17 17053416 17053416 T C het . 14 +intronic MPRIP chr17 17081240 17081240 T - het . 2 +intergenic PLD6(dist=4415),FLCN(dist=1466) chr17 17114061 17114061 G A het . 1 +intronic COPS3 chr17 17164840 17164840 - TAAA het . 10 +intronic COPS3 chr17 17165136 17165136 C A het . 6 +intronic COPS3 chr17 17183863 17183863 C - het . 9 +intronic COPS3 chr17 17183867 17183867 G - het . 9 +intronic NT5M chr17 17220008 17220012 TTTTG - het . 4 +intergenic NT5M(dist=97018),MED9(dist=32305) chr17 17347995 17347995 C A het . 2 +intergenic NT5M(dist=105392),MED9(dist=23931) chr17 17356369 17356369 G C het . 3 +intergenic NT5M(dist=109759),MED9(dist=19562) chr17 17360736 17360738 GGG - het . 3 +intronic PEMT chr17 17412032 17412032 G C het . 3 +intronic PEMT chr17 17433777 17433777 C T het . 2 +intergenic PEMT(dist=27614),SMCR2(dist=54710) chr17 17522631 17522631 A - het . 4 +intronic RAI1 chr17 17649423 17649423 C T het . 1 +exonic RAI1 chr17 17700792 17700792 C T het . 7 +intronic SREBF1 chr17 17736252 17736252 A C het . 3 +intronic TOM1L2 chr17 17772623 17772623 A - het . 21 +intronic ATPAF2 chr17 17931885 17931887 AAA - het . 13 +exonic GID4 chr17 17965162 17965162 C A het . 17 +exonic MYO15A chr17 18027827 18027827 C A het . 18 +intronic MYO15A chr17 18047772 18047772 - C het . 10 +exonic MYO15A chr17 18051372 18051372 T G het . 34 +exonic MYO15A chr17 18052158 18052158 T C het . 20 +intronic MYO15A chr17 18060600 18060600 C A het . 26 +intronic MYO15A chr17 18073938 18073938 T C het . 2 +intronic ALKBH5 chr17 18098192 18098192 C A het . 6 +UTR3 ALKBH5(NM_017758:c.*93_*99delTTTTTGT) chr17 18111803 18111809 TTTTTGT - het . 20 +UTR3 ALKBH5(NM_017758:c.*226C>A) chr17 18111936 18111936 C A het . 19 +intergenic ALKBH5(dist=2150),LLGL1(dist=13518) chr17 18115417 18115418 AA - het . 2 +intronic FLII chr17 18156795 18156795 T G het . 14 +exonic MIEF2 chr17 18167684 18167684 G A het . 16 +exonic SMCR8 chr17 18221134 18221134 C T het . 14 +exonic SMCR8 chr17 18221246 18221246 C A het . 22 +exonic SHMT1 chr17 18250897 18250897 C A het . 26 +intronic SHMT1 chr17 18264630 18264630 C A het . 2 +intergenic EVPLL(dist=19611),LINC02076(dist=1902) chr17 18312571 18312571 C T het . 2 +intronic LGALS9C chr17 18391123 18391123 C T het . 3 +ncRNA_intronic CCDC144B chr17 18476405 18476405 T G het . 4 +intronic TVP23B chr17 18708830 18708830 - T het . 13 +intronic PRPSAP2 chr17 18785126 18785126 G A het . 2 +intronic PRPSAP2 chr17 18814661 18814661 - TA het . 3 +exonic PRPSAP2 chr17 18833969 18833969 G T het . 22 +exonic PRPSAP2 chr17 18833971 18833971 C A het . 22 +exonic SLC5A10 chr17 18855584 18855584 C T het . 10 +exonic SLC5A10 chr17 18855611 18855611 T C het . 13 +intergenic GRAP(dist=16779),LOC388436(dist=25630) chr17 18967144 18967144 T C het . 18 +intronic B9D1 chr17 19255206 19255206 A C het . 2 +intergenic RNF112(dist=29547),SLC47A1(dist=87031) chr17 19350136 19350136 C - het . 6 +intronic ALDH3A2 chr17 19555183 19555183 T C het . 11 +intronic ALDH3A2 chr17 19576700 19576700 T - het . 9 +intronic SLC47A2 chr17 19595541 19595544 AAAA - het . 12 +exonic SLC47A2 chr17 19607432 19607432 C T het . 8 +intronic SLC47A2 chr17 19610104 19610104 C T het . 3 +exonic SLC47A2 chr17 19612035 19612035 T G het . 31 +intronic ULK2 chr17 19707968 19707968 T C het . 10 +intronic ULK2 chr17 19710651 19710651 A G het . 1 +intronic SPECC1 chr17 19965702 19965702 T G het . 2 +intronic SPECC1 chr17 20015121 20015121 G - het . 13 +intronic SPECC1 chr17 20015123 20015123 G T het . 13 +intronic SPECC1 chr17 20092165 20092165 A C het . 2 +ncRNA_intronic CCDC144CP chr17 20279654 20279654 - T het . 20 +intergenic LOC100287072(dist=7095),CCDC144NL(dist=118434) chr17 20648273 20648274 TT - het . 2 +ncRNA_intronic CCDC144NL-AS1 chr17 20772594 20772594 C T het . 2 +intronic USP22 chr17 20922268 20922268 G A het . 2 +intronic DHRS7B chr17 21039829 21039829 A - het . 3 +intronic NATD1 chr17 21149837 21149837 - C het . 2 +intronic NATD1 chr17 21149838 21149838 G A het . 2 +intronic MAP2K3 chr17 21199162 21199162 C T het . 12 +intronic MAP2K3 chr17 21199236 21199236 C T het . 8 +intronic MAP2K3 chr17 21199275 21199275 G T het . 14 +intronic MAP2K3 chr17 21199277 21199277 G A het . 14 +intronic MAP2K3 chr17 21200212 21200212 - GCT het . 11 +intronic MAP2K3 chr17 21201550 21201550 T C het . 3 +intronic MAP2K3 chr17 21201719 21201719 T C het . 33 +intronic MAP2K3 chr17 21201851 21201851 A G het . 19 +intronic MAP2K3 chr17 21201884 21201884 T C het . 7 +intronic MAP2K3 chr17 21201890 21201890 A G het . 7 +intronic MAP2K3 chr17 21201894 21201894 C T het . 5 +intronic MAP2K3 chr17 21201907 21201907 G A het . 2 +exonic MAP2K3 chr17 21202237 21202237 G C het . 14 +intronic MAP2K3 chr17 21202272 21202272 C G het . 12 +intronic MAP2K3 chr17 21202310 21202311 GC AT het . 11 +intronic MAP2K3 chr17 21202316 21202316 T C het . 10 +intronic MAP2K3 chr17 21202318 21202318 G T het . 10 +intronic MAP2K3 chr17 21205396 21205396 C A het . 8 +intronic MAP2K3 chr17 21205406 21205406 A G het . 9 +intronic MAP2K3 chr17 21205654 21205655 AT GA het . 4 +intronic MAP2K3 chr17 21205807 21205807 A T het . 2 +intronic MAP2K3 chr17 21206616 21206616 G A het . 3 +intronic MAP2K3 chr17 21206635 21206635 T A het . 3 +intronic MAP2K3 chr17 21206642 21206642 G A het . 3 +intronic MAP2K3 chr17 21207909 21207909 G A het . 10 +intronic MAP2K3 chr17 21207916 21207916 A G het . 9 +intronic MAP2K3 chr17 21208292 21208292 T C het . 7 +intronic MAP2K3 chr17 21208317 21208317 G A het . 7 +intronic MAP2K3 chr17 21208640 21208640 G A het . 3 +intronic MAP2K3 chr17 21210737 21210737 C T het . 1 +intronic MAP2K3 chr17 21211207 21211207 G T het . 3 +intronic MAP2K3 chr17 21213716 21213716 T A het . 3 +intronic MAP2K3 chr17 21213734 21213734 C A het . 3 +intronic MAP2K3 chr17 21213776 21213776 C T het . 4 +intronic MAP2K3 chr17 21213782 21213782 A G het . 4 +intronic MAP2K3 chr17 21213823 21213823 C T het . 4 +intronic MAP2K3 chr17 21213837 21213837 C T het . 3 +intronic MAP2K3 chr17 21214137 21214137 T C het . 2 +intronic MAP2K3 chr17 21214139 21214139 T C het . 2 +intronic MAP2K3 chr17 21215434 21215434 - C het . 8 +intronic MAP2K3 chr17 21215446 21215446 C T het . 11 +intronic MAP2K3 chr17 21216951 21216951 C G het . 4 +intronic MAP2K3 chr17 21216964 21216964 T C het . 4 +intronic MAP2K3 chr17 21217397 21217397 A G het . 13 +intronic MAP2K3 chr17 21217400 21217400 G A het . 14 +intronic MAP2K3 chr17 21217411 21217411 T C het . 13 +UTR3 MAP2K3(NM_001316332:c.*726C>T,NM_145109:c.*726C>T,NM_002756:c.*726C>T) chr17 21218268 21218268 C T het . 2 +intergenic MAP2K3(dist=8005),KCNJ12(dist=53143) chr17 21226556 21226556 C T het . 2 +intergenic MAP2K3(dist=8249),KCNJ12(dist=52899) chr17 21226800 21226800 T C het . 2 +intergenic MAP2K3(dist=8527),KCNJ12(dist=52621) chr17 21227078 21227078 G T het . 2 +intergenic MAP2K3(dist=8678),KCNJ12(dist=52469) chr17 21227229 21227230 TT CC het . 3 +intergenic MAP2K3(dist=8691),KCNJ12(dist=52457) chr17 21227242 21227242 A G het . 3 +intergenic MAP2K3(dist=8976),KCNJ12(dist=52172) chr17 21227527 21227527 G A het . 1 +intergenic MAP2K3(dist=8981),KCNJ12(dist=52167) chr17 21227532 21227532 A G het . 1 +intergenic MAP2K3(dist=9048),KCNJ12(dist=52100) chr17 21227599 21227599 - A het . 4 +intergenic MAP2K3(dist=9902),KCNJ12(dist=51245) chr17 21228453 21228454 GA TC het . 3 +intergenic MAP2K3(dist=10495),KCNJ12(dist=50653) chr17 21229046 21229046 A G het . 3 +intergenic MAP2K3(dist=10518),KCNJ12(dist=50630) chr17 21229069 21229069 A G het . 3 +intergenic MAP2K3(dist=10539),KCNJ12(dist=50609) chr17 21229090 21229090 T C het . 3 +intergenic MAP2K3(dist=11386),KCNJ12(dist=49762) chr17 21229937 21229937 A G het . 4 +intergenic MAP2K3(dist=11537),KCNJ12(dist=49611) chr17 21230088 21230088 T C het . 4 +intergenic MAP2K3(dist=13563),KCNJ12(dist=47585) chr17 21232114 21232114 C T het . 5 +intergenic MAP2K3(dist=13731),KCNJ12(dist=47417) chr17 21232282 21232282 G C het . 4 +intergenic MAP2K3(dist=14303),KCNJ12(dist=46845) chr17 21232854 21232854 C T het . 3 +intergenic MAP2K3(dist=14660),KCNJ12(dist=46488) chr17 21233211 21233211 T G het . 3 +intergenic MAP2K3(dist=17581),KCNJ12(dist=43567) chr17 21236132 21236132 A T het . 3 +intergenic MAP2K3(dist=18848),KCNJ12(dist=42300) chr17 21237399 21237399 G A het . 3 +intergenic MAP2K3(dist=20346),KCNJ12(dist=40802) chr17 21238897 21238897 T A het . 4 +intergenic MAP2K3(dist=23623),KCNJ12(dist=37525) chr17 21242174 21242174 A G het . 2 +intergenic MAP2K3(dist=23634),KCNJ12(dist=37514) chr17 21242185 21242185 T C het . 3 +intergenic MAP2K3(dist=25207),KCNJ12(dist=35941) chr17 21243758 21243758 C T het . 1 +intergenic MAP2K3(dist=25211),KCNJ12(dist=35937) chr17 21243762 21243762 C T het . 1 +intergenic MAP2K3(dist=30027),KCNJ12(dist=31121) chr17 21248578 21248578 C T het . 2 +intergenic MAP2K3(dist=30386),KCNJ12(dist=30761) chr17 21248937 21248938 TG CA het . 2 +intergenic MAP2K3(dist=30720),KCNJ12(dist=30428) chr17 21249271 21249271 A G het . 2 +intergenic MAP2K3(dist=30758),KCNJ12(dist=30390) chr17 21249309 21249309 C T het . 3 +intergenic MAP2K3(dist=32161),KCNJ12(dist=28987) chr17 21250712 21250712 T C het . 2 +intergenic MAP2K3(dist=32168),KCNJ12(dist=28980) chr17 21250719 21250719 T C het . 2 +intergenic MAP2K3(dist=32193),KCNJ12(dist=28955) chr17 21250744 21250744 T C het . 2 +intergenic MAP2K3(dist=32199),KCNJ12(dist=28949) chr17 21250750 21250750 C G het . 2 +intergenic MAP2K3(dist=33156),KCNJ12(dist=27992) chr17 21251707 21251707 C T het . 4 +intronic KCNJ12 chr17 21304108 21304108 A G het . 1 +intronic KCNJ12 chr17 21306500 21306500 G C het . 2 +intronic KCNJ12 chr17 21307526 21307526 T C het . 2 +UTR5 KCNJ18(NM_001194958:c.-10131G>A) chr17 21308524 21308524 G A het . 2 +UTR5 KCNJ18(NM_001194958:c.-10114_-10113delinsCA) chr17 21308541 21308542 GG CA het . 2 +intronic KCNJ12,KCNJ18 chr17 21309320 21309320 C T het . 2 +intronic KCNJ12,KCNJ18 chr17 21309338 21309338 C G het . 2 +intronic KCNJ12,KCNJ18 chr17 21311581 21311581 C G het . 1 +intronic KCNJ12,KCNJ18 chr17 21312678 21312678 T A het . 2 +intronic KCNJ12,KCNJ18 chr17 21312694 21312694 A G het . 2 +intronic KCNJ12,KCNJ18 chr17 21312817 21312817 A G het . 2 +intronic KCNJ12,KCNJ18 chr17 21313282 21313282 T C het . 3 +intronic KCNJ12,KCNJ18 chr17 21317528 21317528 T C het . 2 +intronic KCNJ12,KCNJ18 chr17 21318144 21318144 C T het . 2 +intronic KCNJ12,KCNJ18 chr17 21318595 21318595 G C het . 6 +UTR5 KCNJ12(NM_021012:c.-26C>A),KCNJ18(NM_001194958:c.-26C>A) chr17 21318629 21318629 C A het . 15 +exonic KCNJ12,KCNJ18 chr17 21318897 21318897 G C het . 71 +exonic KCNJ12,KCNJ18 chr17 21318912 21318912 C A het . 69 +exonic KCNJ12,KCNJ18 chr17 21318918 21318918 G A het . 66 +exonic KCNJ12,KCNJ18 chr17 21318948 21318948 C T het . 53 +exonic KCNJ12,KCNJ18 chr17 21318951 21318952 CA TG het . 54 +exonic KCNJ12,KCNJ18 chr17 21318952 21318952 A G het . 44 +exonic KCNJ12,KCNJ18 chr17 21318969 21318969 C T het . 43 +exonic KCNJ12,KCNJ18 chr17 21318981 21318981 C T het . 36 +exonic KCNJ12,KCNJ18 chr17 21319007 21319008 GG AC het . 27 +exonic KCNJ12,KCNJ18 chr17 21319519 21319519 G C het . 9 +exonic KCNJ12,KCNJ18 chr17 21319523 21319523 C T het . 9 +exonic KCNJ12,KCNJ18 chr17 21319527 21319527 C T het . 7 +exonic KCNJ12,KCNJ18 chr17 21319543 21319543 G A het . 3 +exonic KCNJ12,KCNJ18 chr17 21319651 21319653 GAG - het . 37 +exonic KCNJ12,KCNJ18 chr17 21319682 21319682 C T het . 37 +UTR3 KCNJ12(NM_021012:c.*960G>A) chr17 21320916 21320916 G A het . 2 +UTR3 KCNJ12(NM_021012:c.*3045C>T) chr17 21323001 21323001 C T het . 3 +UTR3 KCNJ12(NM_021012:c.*3077_*3078delinsTA) chr17 21323033 21323034 CG TA het . 3 +UTR3 KCNJ12(NM_021012:c.*3093C>T) chr17 21323049 21323049 C T het . 2 +intergenic KCNJ12(dist=3323),C17orf51(dist=105069) chr17 21326502 21326502 G C het . 2 +intergenic KCNJ12(dist=4293),C17orf51(dist=104099) chr17 21327472 21327472 C T het . 3 +intergenic KCNJ12(dist=4317),C17orf51(dist=104075) chr17 21327496 21327496 T C het . 3 +intergenic KCNJ12(dist=6174),C17orf51(dist=102218) chr17 21329353 21329353 T C het . 2 +intergenic C17orf51(dist=59228),UBBP4(dist=215432) chr17 21514169 21514169 T C het . 4 +intergenic C17orf51(dist=62703),UBBP4(dist=211957) chr17 21517644 21517644 C G het . 3 +intergenic C17orf51(dist=62763),UBBP4(dist=211897) chr17 21517704 21517704 T C het . 21 +intergenic C17orf51(dist=62777),UBBP4(dist=211883) chr17 21517718 21517718 C A het . 24 +intergenic C17orf51(dist=62861),UBBP4(dist=211799) chr17 21517802 21517802 G A het . 9 +intergenic C17orf51(dist=62922),UBBP4(dist=211738) chr17 21517863 21517863 A G het . 7 +intergenic C17orf51(dist=63989),UBBP4(dist=210671) chr17 21518930 21518930 A - het . 16 +intergenic C17orf51(dist=66150),UBBP4(dist=208510) chr17 21521091 21521091 A G het . 3 +intergenic C17orf51(dist=67348),UBBP4(dist=207312) chr17 21522289 21522289 A C het . 3 +intergenic C17orf51(dist=67361),UBBP4(dist=207299) chr17 21522302 21522302 C T het . 2 +intergenic C17orf51(dist=74996),UBBP4(dist=199664) chr17 21529937 21529937 A G het . 2 +intergenic C17orf51(dist=81271),UBBP4(dist=193389) chr17 21536212 21536212 A G het . 8 +intergenic C17orf51(dist=81309),UBBP4(dist=193351) chr17 21536250 21536250 G A het . 6 +intergenic C17orf51(dist=84403),UBBP4(dist=190257) chr17 21539344 21539344 T C het . 2 +intergenic C17orf51(dist=89646),UBBP4(dist=185014) chr17 21544587 21544587 A G het . 9 +intergenic C17orf51(dist=89705),UBBP4(dist=184955) chr17 21544646 21544646 T C het . 6 +intergenic C17orf51(dist=92314),UBBP4(dist=182346) chr17 21547255 21547255 C T het . 4 +intergenic C17orf51(dist=92349),UBBP4(dist=182311) chr17 21547290 21547290 A G het . 4 +intergenic C17orf51(dist=93121),UBBP4(dist=181539) chr17 21548062 21548062 G - het . 3 +intergenic C17orf51(dist=93136),UBBP4(dist=181524) chr17 21548077 21548077 C T het . 3 +intergenic C17orf51(dist=93191),UBBP4(dist=181469) chr17 21548132 21548132 A G het . 3 +intergenic C17orf51(dist=95168),UBBP4(dist=179492) chr17 21550109 21550109 T C het . 3 +intergenic C17orf51(dist=96929),UBBP4(dist=177731) chr17 21551870 21551870 A G het . 2 +intergenic C17orf51(dist=96948),UBBP4(dist=177712) chr17 21551889 21551889 A G het . 3 +intergenic C17orf51(dist=96959),UBBP4(dist=177701) chr17 21551900 21551900 T C het . 3 +intergenic C17orf51(dist=96989),UBBP4(dist=177671) chr17 21551930 21551930 T C het . 3 +intergenic C17orf51(dist=96995),UBBP4(dist=177665) chr17 21551936 21551936 G T het . 3 +intergenic C17orf51(dist=101921),UBBP4(dist=172739) chr17 21556862 21556862 C G het . 13 +intergenic C17orf51(dist=101932),UBBP4(dist=172728) chr17 21556873 21556873 G A het . 19 +intergenic C17orf51(dist=101937),UBBP4(dist=172723) chr17 21556878 21556878 G A het . 20 +intergenic C17orf51(dist=101952),UBBP4(dist=172708) chr17 21556893 21556893 A G het . 18 +intergenic C17orf51(dist=101968),UBBP4(dist=172692) chr17 21556909 21556909 C T het . 17 +intergenic C17orf51(dist=102012),UBBP4(dist=172648) chr17 21556953 21556953 G A het . 6 +intergenic C17orf51(dist=105672),UBBP4(dist=168988) chr17 21560613 21560613 A G het . 14 +intergenic C17orf51(dist=106980),UBBP4(dist=167680) chr17 21561921 21561921 T G het . 17 +intergenic C17orf51(dist=107137),UBBP4(dist=167523) chr17 21562078 21562078 C T het . 25 +intergenic C17orf51(dist=111075),UBBP4(dist=163585) chr17 21566016 21566016 G T het . 2 +intergenic C17orf51(dist=213459),UBBP4(dist=61201) chr17 21668400 21668400 T C het . 2 +ncRNA_intronic FAM27E5 chr17 21826038 21826038 T C het . 4 +intergenic FAM27E5(dist=11793),FLJ36000(dist=65770) chr17 21838292 21838292 G A het . 2 +ncRNA_intronic FLJ36000 chr17 21906392 21906392 A G het . 6 +ncRNA_intronic FLJ36000 chr17 21906824 21906824 G T het . 2 +ncRNA_intronic FLJ36000 chr17 21907826 21907826 A T het . 2 +intergenic FLJ36000(dist=77441),MTRNR2L1(dist=31926) chr17 21990511 21990511 A C het . 2 +intergenic FLJ36000(dist=77459),MTRNR2L1(dist=31908) chr17 21990529 21990529 T C het . 1 +UTR5 MTRNR2L1(NM_001190452:c.-61C>T) chr17 22023327 22023327 C T het . 6 +intergenic MTRNR2L1(dist=236110),NONE(dist=NONE) chr17 22260101 22260101 T C het . 1 +intergenic MTRNR2L1(dist=237571),NONE(dist=NONE) chr17 22261562 22261562 T C het . 16 +intergenic MTRNR2L1(dist=237629),NONE(dist=NONE) chr17 22261620 22261620 A C het . 16 +intergenic MTRNR2L1(dist=237645),NONE(dist=NONE) chr17 22261636 22261636 T G het . 3 +intergenic NONE(dist=NONE),LOC105371703(dist=134285) chr17 25265130 25265130 G T het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=133430) chr17 25265985 25265985 G C het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=132872) chr17 25266543 25266543 A G het . 3 +intergenic NONE(dist=NONE),LOC105371703(dist=132834) chr17 25266581 25266581 G C het . 3 +intergenic NONE(dist=NONE),LOC105371703(dist=132814) chr17 25266600 25266601 GG TA het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=130796) chr17 25268619 25268619 T C het . 1 +intergenic NONE(dist=NONE),LOC105371703(dist=130787) chr17 25268628 25268628 A C het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=126378) chr17 25273037 25273037 C T het . 4 +intergenic NONE(dist=NONE),LOC105371703(dist=119931) chr17 25279484 25279484 T C het . 14 +intergenic NONE(dist=NONE),LOC105371703(dist=119887) chr17 25279525 25279528 AAGG - het . 8 +intergenic NONE(dist=NONE),LOC105371703(dist=119815) chr17 25279600 25279600 G T het . 5 +intergenic NONE(dist=NONE),LOC105371703(dist=119807) chr17 25279608 25279608 G A het . 5 +intergenic NONE(dist=NONE),LOC105371703(dist=119429) chr17 25279986 25279986 T C het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=119425) chr17 25279990 25279990 G T het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=119410) chr17 25280005 25280005 T C het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=116141) chr17 25283274 25283274 C A het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=116139) chr17 25283276 25283276 A G het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=109969) chr17 25289446 25289446 C A het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=109958) chr17 25289457 25289457 G A het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=109931) chr17 25289484 25289484 C - het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=109921) chr17 25289494 25289494 C G het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=109513) chr17 25289902 25289902 A G het . 3 +intergenic NONE(dist=NONE),LOC105371703(dist=109508) chr17 25289907 25289907 A C het . 3 +intergenic NONE(dist=NONE),LOC105371703(dist=109032) chr17 25290383 25290383 A G het . 7 +intergenic NONE(dist=NONE),LOC105371703(dist=109014) chr17 25290399 25290401 AAG - het . 7 +intergenic NONE(dist=NONE),LOC105371703(dist=108999) chr17 25290416 25290416 C T het . 12 +intergenic NONE(dist=NONE),LOC105371703(dist=108986) chr17 25290429 25290429 G A het . 11 +intergenic NONE(dist=NONE),LOC105371703(dist=107128) chr17 25292287 25292287 A T het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=106351) chr17 25293064 25293064 - ATGAA het . 1 +intergenic NONE(dist=NONE),LOC105371703(dist=102732) chr17 25296683 25296683 G A het . 3 +intergenic NONE(dist=NONE),LOC105371703(dist=102597) chr17 25296815 25296818 TTTT - het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=101811) chr17 25297604 25297604 G C het . 3 +intergenic NONE(dist=NONE),LOC105371703(dist=99886) chr17 25299529 25299529 T C het . 2 +intergenic NONE(dist=NONE),LOC105371703(dist=96288) chr17 25303127 25303127 G A het . 2 +intergenic WSB1(dist=97268),TBC1D3P5(dist=7116) chr17 25737915 25737915 G A het . 2 +ncRNA_intronic TBC1D3P5 chr17 25747994 25747994 C T het . 5 +ncRNA_intronic TBC1D3P5 chr17 25751805 25751805 G T het . 2 +intronic KSR1 chr17 25860415 25860415 T - het . 2 +intronic KSR1 chr17 25948800 25948800 C A het . 4 +exonic LGALS9 chr17 25958304 25958304 G A het . 18 +intergenic LGALS9(dist=17890),NOS2(dist=89316) chr17 25994476 25994476 C T het . 2 +intergenic LGALS9(dist=17892),NOS2(dist=89314) chr17 25994478 25994478 C G het . 2 +intergenic LGALS9(dist=46524),NOS2(dist=60682) chr17 26023110 26023110 C A het . 1 +intergenic LGALS9(dist=46540),NOS2(dist=60666) chr17 26023126 26023126 C T het . 2 +intergenic LGALS9(dist=52425),NOS2(dist=54781) chr17 26029011 26029011 G A het . 5 +intergenic LGALS9(dist=52460),NOS2(dist=54746) chr17 26029046 26029046 C T het . 6 +intergenic LGALS9(dist=53222),NOS2(dist=53984) chr17 26029808 26029808 T A het . 4 +exonic NOS2 chr17 26099477 26099477 C A het . 10 +intronic NOS2 chr17 26107726 26107726 G A het . 5 +intronic NOS2 chr17 26125708 26125708 C A het . 17 +intronic LYRM9 chr17 26208840 26208840 T - het . 2 +ncRNA_intronic LINC01992 chr17 26272150 26272150 C T het . 2 +intronic NLK chr17 26383960 26383960 C T het . 4 +intronic NLK chr17 26473408 26473408 - TGA het . 5 +exonic NLK chr17 26495608 26495608 C A het . 24 +intronic IFT20 chr17 26657262 26657262 A - het . 3 +exonic;splicing POLDIP2;POLDIP2(NM_001290145:exon1:c.83+1->G,NM_015584:exon1:c.83+1->G) chr17 26684390 26684390 - C het . 13 +exonic POLDIP2 chr17 26684394 26684394 T G het . 14 +intronic TMEM199 chr17 26687484 26687484 - C het . 7 +exonic SARM1 chr17 26708298 26708298 - GC het . 21 +exonic SARM1 chr17 26708303 26708304 GT - het . 22 +intergenic SLC46A1(dist=61705),SLC13A2(dist=5729) chr17 26794935 26794935 G A het . 11 +intergenic SLC46A1(dist=61708),SLC13A2(dist=5725) chr17 26794938 26794939 CT TG het . 11 +intronic SLC13A2 chr17 26822932 26822932 C T het . 5 +upstream FOXN1(dist=30) chr17 26850929 26850929 A C het . 11 +intronic FOXN1 chr17 26861606 26861607 AA - het . 8 +exonic KIAA0100 chr17 26948133 26948133 C A het . 21 +intronic SUPT6H chr17 27012012 27012012 A G het . 7 +intronic PROCA1 chr17 27033791 27033791 C A het . 9 +exonic TLCD1 chr17 27052538 27052538 A C het . 12 +intronic NEK8 chr17 27067689 27067689 C A het . 22 +intronic FAM222B chr17 27121241 27121241 T - het . 3 +intronic FLOT2 chr17 27212726 27212726 C A het . 10 +intronic MYO18A chr17 27412805 27412805 T G het . 4 +intergenic NUFIP2(dist=45929),MIR4523(dist=50585) chr17 27667095 27667095 A - het . 1 +intergenic NUFIP2(dist=45952),MIR4523(dist=50562) chr17 27667118 27667118 A G het . 1 +intronic TAOK1 chr17 27764062 27764062 - A het . 2 +intronic TAOK1 chr17 27826582 27826582 C T het . 1 +intronic TP53I13 chr17 27897585 27897585 T C het . 1 +intronic CORO6 chr17 27943901 27943901 A G het . 9 +exonic SSH2 chr17 27994169 27994169 C A het . 21 +intronic SSH2 chr17 28011502 28011504 AAA - het . 5 +intronic SSH2 chr17 28011504 28011504 A T het . 5 +intronic SSH2 chr17 28011505 28011505 A T het . 5 +intronic SSH2 chr17 28011522 28011522 G C het . 5 +intronic SSH2 chr17 28160663 28160666 TTCC - het . 3 +intronic SSH2 chr17 28195773 28195773 C T het . 1 +intronic EFCAB5 chr17 28313194 28313194 C T het . 4 +exonic EFCAB5 chr17 28320248 28320248 T A het . 20 +intronic EFCAB5 chr17 28361216 28361216 C A het . 7 +exonic EFCAB5 chr17 28400675 28400675 G A het . 21 +intronic EFCAB5 chr17 28434827 28434831 CTTTT - het . 4 +intergenic EFCAB5(dist=2165),NSRP1(dist=6190) chr17 28437635 28437635 C A het . 1 +intronic NSRP1 chr17 28503018 28503019 AC - het . 4 +intronic NSRP1 chr17 28503123 28503127 TTGTT - het . 6 +intergenic NSRP1(dist=2555),SLC6A4(dist=5285) chr17 28516048 28516052 GTTTT - het . 4 +intergenic NSRP1(dist=3379),SLC6A4(dist=4465) chr17 28516872 28516872 A T het . 3 +intronic SLC6A4 chr17 28533715 28533715 - TTTTC het . 2 +intronic GOSR1 chr17 28811554 28811558 TTTTG - het . 2 +intronic GOSR1 chr17 28811658 28811658 - T het . 3 +intronic GOSR1 chr17 28834774 28834774 A G het . 2 +intronic GOSR1 chr17 28838551 28838551 T - het . 2 +intergenic GOSR1(dist=31607),TBC1D29(dist=1145) chr17 28885439 28885439 C A het . 5 +ncRNA_exonic SMURF2P1-LRRC37BP1 chr17 28961014 28961014 C A het . 10 +ncRNA_intronic SUZ12P1 chr17 29069248 29069248 - AAAC het . 2 +ncRNA_intronic SUZ12P1 chr17 29115379 29115379 G A het . 4 +upstream ATAD5(dist=745) chr17 29158243 29158243 G T het . 20 +intronic ATAD5 chr17 29184168 29184168 C T het . 6 +intronic ATAD5 chr17 29189051 29189051 A - het . 2 +intronic ATAD5 chr17 29195528 29195529 TT - het . 14 +intronic ATAD5 chr17 29206421 29206421 G - het . 9 +intronic ATAD5 chr17 29206421 29206421 G T het . 9 +exonic ATAD5 chr17 29220376 29220376 G A het . 13 +exonic TEFM chr17 29231341 29231341 C A het . 30 +intronic NF1 chr17 29508819 29508819 - T het . 13 +intronic NF1 chr17 29509791 29509791 C T het . 12 +intronic NF1 chr17 29509801 29509801 G T het . 12 +intronic NF1 chr17 29527250 29527250 - T het . 4 +intronic EVI2B,NF1 chr17 29640204 29640204 A G het . 1 +intronic NF1 chr17 29652531 29652531 A G het . 3 +intronic NF1 chr17 29654876 29654876 T A het . 22 +intronic NF1 chr17 29663172 29663172 A C het . 6 +intronic NF1 chr17 29663624 29663625 TT AA het . 19 +exonic NF1 chr17 29664521 29664521 C A het . 34 +intronic NF1 chr17 29684220 29684220 C A het . 27 +intronic RAB11FIP4 chr17 29838382 29838382 C G het . 2 +intergenic MIR193A(dist=12061),MIR4725(dist=3125) chr17 29899163 29899163 C T het . 15 +intergenic MIR365B(dist=131282),COPRS(dist=145062) chr17 30033822 30033822 C T het . 2 +intergenic MIR365B(dist=131291),COPRS(dist=145051) chr17 30033831 30033833 ACT - het . 2 +intergenic MIR365B(dist=131294),COPRS(dist=145050) chr17 30033834 30033834 - GG het . 1 +intergenic MIR365B(dist=187318),COPRS(dist=89026) chr17 30089858 30089858 C T het . 3 +intergenic MIR365B(dist=236253),COPRS(dist=40091) chr17 30138793 30138793 A - het . 2 +intergenic MIR365B(dist=261715),COPRS(dist=14629) chr17 30164255 30164255 A - het . 2 +intronic UTP6 chr17 30199537 30199537 T C het . 2 +intronic SUZ12 chr17 30322560 30322560 C A het . 13 +intronic SUZ12 chr17 30322882 30322882 A - het . 9 +exonic LRRC37B chr17 30348790 30348790 C A het . 36 +intergenic LRRC37B(dist=59004),LOC105371730(dist=28722) chr17 30439523 30439523 C A het . 46 +intronic RHOT1 chr17 30470218 30470218 T G het . 3 +intergenic RHOT1(dist=33072),RHBDL3(dist=7333) chr17 30585862 30585862 A C het . 7 +intronic RHBDL3 chr17 30643361 30643361 A G het . 2 +exonic C17orf75 chr17 30658956 30658956 C A het . 30 +exonic PSMD11 chr17 30781627 30781627 C A het . 11 +intronic PSMD11 chr17 30791503 30791503 C T het . 11 +intronic PSMD11 chr17 30791509 30791509 C G het . 13 +intronic MYO1D chr17 30977837 30977837 C T het . 2 +intronic MYO1D chr17 31105434 31105434 C A het . 4 +intergenic MYO1D(dist=27588),TMEM98(dist=23149) chr17 31231779 31231779 T - het . 2 +intergenic TMEM98(dist=39873),SPACA3(dist=10342) chr17 31308540 31308540 T C het . 1 +intronic ASIC2 chr17 31351749 31351749 A C het . 3 +intronic ASIC2 chr17 31355227 31355227 - G het . 9 +intronic ASIC2 chr17 31626710 31626710 G T het . 1 +intronic ASIC2 chr17 31626735 31626735 T C het . 2 +intronic ASIC2 chr17 31715114 31715114 - CAAAA het . 2 +intronic ASIC2 chr17 31747489 31747489 C A het . 1 +intronic ASIC2 chr17 31784663 31784665 TGA - het . 3 +intronic ASIC2 chr17 31784674 31784674 A C het . 3 +ncRNA_intronic AA06 chr17 31860338 31860345 GAAAGAAA - het . 2 +intronic ASIC2 chr17 32039623 32039623 G A het . 1 +intronic ASIC2 chr17 32152753 32152753 C T het . 2 +intronic ASIC2 chr17 32224491 32224491 T C het . 1 +intronic ASIC2 chr17 32246740 32246740 C T het . 1 +intronic ASIC2 chr17 32426649 32426649 A G het . 3 +intergenic CCL1(dist=76833),C17orf102(dist=134057) chr17 32767085 32767085 C G het . 2 +intergenic CCL1(dist=122699),C17orf102(dist=88191) chr17 32812951 32812951 C G het . 1 +intergenic TMEM132E(dist=50065),CCT6B(dist=238476) chr17 33016402 33016402 A - het . 2 +intergenic TMEM132E(dist=50232),CCT6B(dist=238309) chr17 33016569 33016569 A G het . 1 +intergenic TMEM132E(dist=108588),CCT6B(dist=179953) chr17 33074925 33074925 A - het . 2 +intronic CCT6B chr17 33284163 33284164 TT - het . 2 +downstream LIG3(dist=264) chr17 33332352 33332352 C A het . 25 +intronic NLE1 chr17 33466827 33466827 A C het . 2 +intronic NLE1 chr17 33466833 33466833 A C het . 3 +exonic NLE1 chr17 33469127 33469127 C A het . 17 +intronic UNC45B chr17 33478185 33478185 C G het . 3 +intronic UNC45B chr17 33497050 33497050 C T het . 2 +exonic SLFN12 chr17 33749546 33749546 A G het . 33 +intronic SLFN12L chr17 33814735 33814735 - AA het . 17 +intronic SLFN14 chr17 33878723 33878723 G T het . 21 +exonic PEX12 chr17 33904530 33904530 C A het . 29 +intronic AP2B1 chr17 33932260 33932261 TT - het . 3 +intronic AP2B1 chr17 33932272 33932272 - T het . 3 +intronic AP2B1 chr17 33946581 33946581 G A het . 1 +exonic GAS2L2 chr17 34071994 34071996 TCC - het . 29 +ncRNA_intronic CCL15-CCL14 chr17 34325024 34325024 A G het . 5 +intronic CCL4 chr17 34431403 34431403 G A het . 6 +intergenic CCL4(dist=16014),CCL3L3(dist=73240) chr17 34449028 34449028 A T het . 1 +intergenic TBC1D3B(dist=8397),ZNHIT3(dist=25982) chr17 34816489 34816489 C T het . 1 +intergenic TBC1D3B(dist=17374),ZNHIT3(dist=17005) chr17 34825466 34825466 A G het . 1 +intergenic TBC1D3B(dist=17390),ZNHIT3(dist=16989) chr17 34825482 34825482 T C het . 2 +intronic GGNBP2 chr17 34921257 34921257 T C het . 2 +exonic GGNBP2 chr17 34942595 34942595 G A het . 27 +exonic MRM1 chr17 34958453 34958453 C A het . 15 +intergenic MRM1(dist=58507),LHX1-DT(dist=195021) chr17 35023914 35023914 T C het . 1 +intronic ACACA chr17 35564509 35564509 A C het . 11 +intronic ACACA chr17 35591737 35591737 C T het . 5 +exonic ACACA chr17 35600469 35600469 C G het . 23 +intronic ACACA chr17 35604811 35604811 - T het . 5 +intronic ACACA chr17 35605513 35605513 A G het . 26 +intronic ACACA chr17 35647658 35647658 - GAA het . 3 +exonic ACACA chr17 35696804 35696804 G A het . 15 +intronic ACACA chr17 35696821 35696824 AAAG - het . 16 +intronic ACACA chr17 35703382 35703382 C T het . 1 +intronic ACACA chr17 35705112 35705112 T A het . 2 +intronic ACACA chr17 35727422 35727422 T C het . 2 +intronic ACACA,C17orf78 chr17 35748438 35748438 C A het . 8 +intronic TADA2A chr17 35787395 35787395 T C het . 1 +intronic TADA2A chr17 35825460 35825460 A - het . 4 +intronic TADA2A chr17 35831133 35831133 C A het . 21 +intronic SYNRG chr17 35891384 35891384 C G het . 3 +intronic SYNRG chr17 35898406 35898406 T A het . 3 +intronic SYNRG chr17 35900413 35900413 C A het . 3 +intronic SYNRG chr17 35930681 35930681 G A het . 3 +intronic SYNRG chr17 35940183 35940183 G T het . 2 +intronic DDX52 chr17 35979747 35979747 A - het . 9 +intronic DDX52 chr17 35982314 35982314 T C het . 2 +intronic DDX52 chr17 35985897 35985897 - A het . 6 +intronic HNF1B chr17 36093863 36093863 - CAGA het . 8 +ncRNA_intronic LOC440434 chr17 36374964 36374964 A - het . 4 +ncRNA_intronic LOC440434 chr17 36387499 36387499 A - het . 2 +intergenic LOC440434(dist=18900),MRPL45(dist=20833) chr17 36432156 36432156 T A het . 3 +exonic SOCS7 chr17 36508385 36508385 T C het . 7 +intergenic SRCIN1(dist=12351),EPOP(dist=53424) chr17 36774534 36774535 AG - het . 1 +intergenic SRCIN1(dist=35337),EPOP(dist=30439) chr17 36797520 36797520 T C het . 2 +ncRNA_exonic LOC100287808 chr17 36905885 36905885 G C het . 25 +intergenic MIR4727(dist=5952),C17orf98(dist=3244) chr17 36988097 36988097 T - het . 6 +intronic LASP1 chr17 37026588 37026588 T G het . 3 +intergenic LINC02079(dist=1297),LRRC37A11P(dist=1499) chr17 37184660 37184660 A G het . 2 +intronic PLXDC1 chr17 37285893 37285896 AGAG - het . 2 +intronic PLXDC1 chr17 37286823 37286823 C G het . 3 +intronic STAC2 chr17 37369202 37369205 CTCC - het . 2 +intronic FBXL20 chr17 37421550 37421550 C T het . 8 +intronic FBXL20 chr17 37441679 37441679 A T het . 16 +intronic FBXL20 chr17 37466103 37466103 C G het . 5 +intronic FBXL20 chr17 37549498 37549498 C T het . 2 +intronic FBXL20 chr17 37557598 37557598 C - het . 24 +intronic FBXL20 chr17 37557599 37557599 C A het . 25 +exonic MED1 chr17 37564099 37564099 G - het . 9 +intergenic CDK12(dist=26380),NEUROD2(dist=42823) chr17 37717198 37717198 T G het . 3 +intergenic CDK12(dist=55541),NEUROD2(dist=13662) chr17 37746359 37746359 A C het . 3 +intronic GRB7 chr17 37901889 37901889 C A het . 6 +intronic GRB7 chr17 37902069 37902069 G A het . 5 +intronic GRB7 chr17 37902884 37902889 AAAGAA - het . 2 +intronic GSDMA chr17 38129039 38129039 G - het . 16 +intronic GSDMA chr17 38129050 38129050 - TGGACAAGA het . 18 +exonic GSDMA chr17 38133141 38133141 T C het . 21 +exonic PSMD3 chr17 38146154 38146154 T C het . 12 +intronic PSMD3 chr17 38146264 38146264 A - het . 1 +intronic PSMD3 chr17 38152374 38152374 A - het . 17 +exonic THRA chr17 38245598 38245598 C T het . 16 +intronic NR1D1 chr17 38252660 38252660 G A het . 11 +intronic NR1D1 chr17 38252667 38252667 G A het . 14 +intronic MSL1 chr17 38289927 38289927 C A het . 24 +exonic RAPGEFL1 chr17 38334359 38334359 - G het . 6 +splicing RAPGEFL1(NM_001303534:exon3:c.264+2T>G,NM_001303533:exon3:c.282+2T>G,NM_016339:exon4:c.734+2T>G) chr17 38340603 38340603 T G het . 7 +intronic RAPGEFL1 chr17 38340609 38340609 T G het . 7 +exonic WIPF2 chr17 38412727 38412727 C G het . 4 +intronic TOP2A chr17 38555583 38555583 - TATGAGGC het . 5 +intronic TOP2A chr17 38563710 38563710 C G het . 15 +intronic TOP2A chr17 38565498 38565498 A G het . 6 +intronic TOP2A chr17 38567017 38567017 C A het . 6 +intronic TOP2A chr17 38568249 38568249 C G het . 4 +intronic TOP2A chr17 38568289 38568289 A - het . 3 +intronic TNS4 chr17 38640726 38640726 A G het . 13 +exonic TNS4 chr17 38640744 38640744 C T het . 18 +intronic TNS4 chr17 38640992 38640992 A G het . 2 +intergenic CCR7(dist=51122),SMARCE1(dist=11115) chr17 38772858 38772861 TTTG - het . 2 +intronic SMARCE1 chr17 38786451 38786451 A T het . 15 +intronic KRT222 chr17 38813824 38813824 G A het . 29 +intronic KRT222 chr17 38813828 38813828 - T het . 29 +exonic TMEM99 chr17 38991032 38991032 T A het . 16 +exonic TMEM99 chr17 38991052 38991053 TT GA het . 17 +exonic KRT12 chr17 39019802 39019802 C T het . 35 +intronic KRT20 chr17 39032768 39032768 A T het . 13 +intronic KRT20 chr17 39038942 39038945 TTTA - het . 8 +exonic KRT39 chr17 39122970 39122970 C A het . 35 +intergenic KRTAP3-3(dist=1391),KRTAP3-2(dist=3669) chr17 39151776 39151776 T - het . 2 +exonic KRTAP1-3 chr17 39190939 39190939 G A het . 33 +exonic KRTAP1-1 chr17 39197423 39197437 CAGCAGCTTGGCTGG - het . 38 +intronic KRTAP4-8 chr17 39258344 39258344 A G het . 25 +intronic KRTAP4-8 chr17 39258515 39258515 G T het . 4 +intronic KRTAP4-8 chr17 39259938 39259938 G T het . 1 +exonic KRTAP4-11 chr17 39274235 39274235 G A het . 20 +exonic KRTAP4-11,KRTAP4-8 chr17 39274491 39274491 C T het . 13 +exonic KRTAP4-11,KRTAP4-8 chr17 39274518 39274518 C T het . 7 +exonic KRTAP4-6 chr17 39296254 39296254 C T het . 44 +exonic KRTAP4-6 chr17 39296361 39296361 A G het . 33 +exonic KRTAP4-5 chr17 39305785 39305785 A T het . 19 +intronic KRTAP4-1 chr17 39340812 39340812 T C het . 3 +exonic KRTAP4-1 chr17 39340910 39340910 T C het . 22 +exonic KRTAP9-1 chr17 39346518 39346518 T C het . 34 +exonic KRTAP9-2 chr17 39383073 39383073 G C het . 12 +UTR3 KRTAP9-9(NM_001318227:c.*132A>G,NM_030975:c.*132A>G) chr17 39412279 39412279 A G het . 3 +UTR3 KRTAP9-9(NM_001318227:c.*154T>C,NM_030975:c.*154T>C) chr17 39412301 39412301 T C het . 4 +UTR3 KRTAP9-9(NM_001318227:c.*179C>T,NM_030975:c.*179C>T) chr17 39412326 39412326 C T het . 4 +intronic KRT38 chr17 39595116 39595116 G T het . 3 +exonic KRT32 chr17 39622068 39622068 G T het . 6 +intronic KRT36 chr17 39644057 39644057 G A het . 3 +UTR3 KRT13(NM_002274:c.*150_*149delinsTT,NM_153490:c.*62_*61delinsTT) chr17 39657446 39657447 GG AA het . 10 +intronic KRT13 chr17 39657674 39657674 G A het . 3 +exonic KRT13 chr17 39659913 39659913 G A het . 25 +exonic KRT19 chr17 39684321 39684321 G C het . 27 +intronic KRT9 chr17 39723426 39723426 A - het . 8 +intronic KRT9 chr17 39723451 39723451 A G het . 11 +intronic KRT9 chr17 39724047 39724047 T C het . 18 +intronic KRT9 chr17 39724689 39724689 C A het . 24 +UTR3 KRT17(NM_000422:c.*69C>T) chr17 39775777 39775777 G A het . 5 +exonic HAP1 chr17 39881289 39881289 G C het . 15 +intronic HAP1 chr17 39881487 39881487 T C het . 3 +intronic HAP1 chr17 39884419 39884419 C T het . 10 +intronic HAP1 chr17 39888455 39888455 G C het . 8 +intergenic HAP1(dist=2754),JUP(dist=17204) chr17 39893652 39893655 TTTT - het . 2 +intronic JUP chr17 39914070 39914070 G T het . 2 +intronic JUP chr17 39922537 39922537 G A het . 3 +intronic JUP chr17 39922558 39922558 G A het . 2 +intergenic JUP(dist=13637),P3H4(dist=1548) chr17 39956657 39956657 A - het . 2 +intronic P3H4 chr17 39962951 39962951 C T het . 3 +upstream KLHL11(dist=403) chr17 40022087 40022088 TT - het . 2 +intronic ACLY chr17 40024895 40024895 A G het . 3 +intronic ACLY chr17 40025264 40025264 G T het . 9 +intronic ACLY chr17 40025285 40025285 A G het . 13 +intronic ACLY chr17 40053021 40053021 T C het . 1 +intronic ACLY chr17 40056640 40056640 - A het . 3 +intronic ACLY chr17 40060850 40060850 G A het . 2 +intronic DNAJC7 chr17 40139766 40139766 G A het . 3 +intronic ZNF385C chr17 40186128 40186128 C A het . 1 +exonic DHX58 chr17 40257853 40257853 C A het . 9 +intronic STAT5B chr17 40383930 40383930 T C het . 12 +intronic STAT3 chr17 40475557 40475557 C A het . 32 +intronic STAT3 chr17 40491274 40491274 A - het . 15 +intronic CAVIN1 chr17 40568394 40568394 - AA het . 2 +exonic ATP6V0A1 chr17 40665887 40665887 T C het . 12 +intergenic ATP6V0A1(dist=11443),NAGLU(dist=1911) chr17 40686040 40686040 C T het . 9 +exonic NAGLU chr17 40689455 40689455 T C het . 21 +intergenic NAGLU(dist=3009),LOC108783654(dist=4979) chr17 40699475 40699475 - C het . 17 +intronic PSMC3IP chr17 40725656 40725656 G C het . 11 +exonic RETREG3 chr17 40737197 40737197 G A het . 17 +intergenic TUBG1(dist=20352),TUBG2(dist=23658) chr17 40787608 40787608 G T het . 1 +intergenic TUBG1(dist=36237),TUBG2(dist=7773) chr17 40803493 40803493 - A het . 3 +intronic TUBG2 chr17 40811823 40811823 C A het . 7 +intronic TUBG2 chr17 40817372 40817372 T - het . 2 +downstream RAMP2-AS1(dist=564) chr17 40905383 40905383 T C het . 6 +ncRNA_intronic LINC00671 chr17 41036717 41036717 A - het . 3 +intronic G6PC chr17 41055638 41055638 G A het . 2 +intergenic G6PC(dist=34551),PTGES3L-AARSD1(dist=1542) chr17 41101001 41101001 C A het . 4 +intronic PTGES3L-AARSD1 chr17 41116723 41116723 G A het . 2 +intronic PTGES3L,PTGES3L-AARSD1 chr17 41121206 41121208 GGG - het . 11 +intronic PTGES3L,PTGES3L-AARSD1 chr17 41121217 41121217 - GA het . 6 +intronic PTGES3L,PTGES3L-AARSD1 chr17 41131004 41131004 T C het . 2 +exonic PTGES3L,PTGES3L-AARSD1 chr17 41132152 41132152 G A het . 14 +UTR3 BRCA1(NM_007300:c.*873_*868delAAAAAA,NM_007299:c.*979_*974delAAAAAA,NM_007298:c.*873_*868delAAAAAA,NM_007294:c.*873_*868delAAAAAA,NM_007297:c.*873_*868delAAAAAA) chr17 41196822 41196827 TTTTTT - het . 9 +intronic BRCA1 chr17 41231221 41231221 A C het . 15 +intronic BRCA1 chr17 41256075 41256075 A - het . 12 +intronic BRCA1 chr17 41256101 41256103 AAG - het . 10 +intronic BRCA1 chr17 41262597 41262597 C A het . 9 +ncRNA_intronic NBR2 chr17 41290613 41290613 G T het . 7 +intronic NBR1 chr17 41330265 41330265 A G het . 7 +intergenic CCDC200(dist=1007),LINC00910(dist=65559) chr17 41381654 41381654 A G het . 3 +intergenic CCDC200(dist=1012),LINC00910(dist=65554) chr17 41381659 41381659 A G het . 3 +intergenic CCDC200(dist=1022),LINC00910(dist=65544) chr17 41381669 41381669 - C het . 7 +intergenic CCDC200(dist=1030),LINC00910(dist=65536) chr17 41381677 41381677 G A het . 8 +intergenic CCDC200(dist=1034),LINC00910(dist=65532) chr17 41381681 41381681 A G het . 10 +intergenic CCDC200(dist=1039),LINC00910(dist=65527) chr17 41381686 41381686 T C het . 11 +intergenic CCDC200(dist=1123),LINC00910(dist=65443) chr17 41381770 41381770 - ATAAAC het . 16 +intergenic CCDC200(dist=1155),LINC00910(dist=65411) chr17 41381802 41381802 A G het . 15 +intergenic CCDC200(dist=1334),LINC00910(dist=65232) chr17 41381981 41381981 T C het . 7 +intergenic CCDC200(dist=1371),LINC00910(dist=65195) chr17 41382018 41382018 A G het . 8 +intergenic CCDC200(dist=1634),LINC00910(dist=64932) chr17 41382281 41382281 T G het . 11 +intergenic CCDC200(dist=1654),LINC00910(dist=64912) chr17 41382301 41382301 G C het . 10 +intergenic CCDC200(dist=1773),LINC00910(dist=64793) chr17 41382420 41382420 - CT het . 2 +intergenic CCDC200(dist=1786),LINC00910(dist=64780) chr17 41382433 41382433 G A het . 2 +intergenic CCDC200(dist=1799),LINC00910(dist=64767) chr17 41382446 41382446 T G het . 3 +intergenic CCDC200(dist=1804),LINC00910(dist=64762) chr17 41382451 41382451 T A het . 3 +intergenic CCDC200(dist=1809),LINC00910(dist=64757) chr17 41382456 41382456 A G het . 3 +intergenic CCDC200(dist=18798),LINC00910(dist=47768) chr17 41399445 41399445 G C het . 2 +intergenic CCDC200(dist=18848),LINC00910(dist=47718) chr17 41399495 41399495 G A het . 4 +intergenic CCDC200(dist=20000),LINC00910(dist=46566) chr17 41400647 41400647 C G het . 12 +ncRNA_intronic LINC00910 chr17 41463613 41463613 C - het . 4 +ncRNA_intronic LINC00910 chr17 41463617 41463617 T G het . 4 +ncRNA_intronic LINC00910 chr17 41463622 41463622 T C het . 5 +ncRNA_intronic LINC00910 chr17 41463624 41463624 G T het . 5 +ncRNA_intronic LINC00910 chr17 41463627 41463627 A G het . 5 +ncRNA_intronic LINC00910 chr17 41463631 41463631 C A het . 5 +ncRNA_intronic LINC00910 chr17 41463668 41463668 T C het . 5 +ncRNA_intronic LINC00910 chr17 41463678 41463678 A G het . 7 +ncRNA_intronic LINC00910 chr17 41463683 41463684 AC GA het . 7 +ncRNA_intronic LINC00910 chr17 41463691 41463691 T C het . 5 +ncRNA_intronic LINC00910 chr17 41463693 41463693 A G het . 5 +ncRNA_intronic LINC00910 chr17 41463702 41463702 C T het . 4 +ncRNA_intronic LINC00910 chr17 41463713 41463714 TT CG het . 5 +ncRNA_intronic LINC00910 chr17 41463741 41463741 A G het . 8 +ncRNA_intronic LINC00910 chr17 41463745 41463745 T C het . 9 +ncRNA_intronic LINC00910 chr17 41463748 41463748 G C het . 9 +ncRNA_intronic LINC00910 chr17 41463753 41463753 A G het . 9 +ncRNA_intronic LINC00910 chr17 41463763 41463763 A G het . 7 +ncRNA_intronic LINC00910 chr17 41463766 41463766 G C het . 6 +ncRNA_intronic LINC00910 chr17 41463768 41463768 T C het . 6 +ncRNA_intronic LINC00910 chr17 41463875 41463875 T C het . 3 +ncRNA_exonic LINC00910 chr17 41466019 41466019 T G het . 2 +ncRNA_exonic LINC00910 chr17 41466022 41466022 G C het . 2 +ncRNA_exonic LINC00910 chr17 41466035 41466035 A C het . 5 +ncRNA_exonic LINC00910 chr17 41466239 41466239 T C het . 6 +ncRNA_exonic LINC00910 chr17 41466257 41466257 A C het . 5 +upstream LINC00910(dist=8) chr17 41466274 41466274 A G het . 6 +upstream LINC00910(dist=14) chr17 41466280 41466280 T G het . 7 +upstream LINC00910(dist=22) chr17 41466288 41466288 G A het . 7 +upstream LINC00910(dist=55) chr17 41466321 41466321 C G het . 6 +upstream LINC00910(dist=72) chr17 41466338 41466338 A G het . 8 +upstream LINC00910(dist=74) chr17 41466340 41466340 T C het . 7 +upstream LINC00910(dist=92) chr17 41466358 41466358 A G het . 5 +upstream LINC00910(dist=105) chr17 41466371 41466371 T C het . 6 +upstream LINC00910(dist=132) chr17 41466398 41466398 - G het . 7 +upstream LINC00910(dist=133) chr17 41466399 41466399 A C het . 7 +upstream LINC00910(dist=136) chr17 41466402 41466402 T C het . 7 +upstream LINC00910(dist=155) chr17 41466421 41466421 C T het . 6 +upstream LINC00910(dist=179) chr17 41466445 41466446 GT AC het . 3 +upstream LINC00910(dist=193) chr17 41466459 41466459 C G het . 2 +upstream LINC00910(dist=205) chr17 41466471 41466471 G C het . 2 +upstream LINC00910(dist=386) chr17 41466652 41466652 G C het . 3 +upstream LINC00910(dist=389) chr17 41466655 41466655 A G het . 3 +upstream LINC00910(dist=392) chr17 41466658 41466658 C G het . 3 +upstream LINC00910(dist=394) chr17 41466660 41466661 TG AA het . 3 +upstream LINC00910(dist=406) chr17 41466672 41466672 A G het . 3 +upstream LINC00910(dist=422) chr17 41466688 41466688 G C het . 3 +upstream LINC00910(dist=428) chr17 41466694 41466694 A C het . 3 +upstream LINC00910(dist=503) chr17 41466769 41466769 T G het . 1 +upstream LINC00910(dist=512) chr17 41466778 41466778 T C het . 1 +intergenic ARL4D(dist=38798),MIR2117HG(dist=4773) chr17 41517302 41517302 T C het . 3 +intergenic MIR2117HG(dist=7893),DHX8(dist=24775) chr17 41536458 41536458 G A het . 1 +intronic DHX8 chr17 41570996 41570996 C A het . 16 +intronic DHX8,ETV4 chr17 41609865 41609865 A - het . 2 +exonic ETV4 chr17 41610712 41610712 A C het . 1 +splicing ETV4(NM_001261438:exon6:c.267-1G>C,NM_001079675:exon7:c.384-1G>C,NM_001986:exon7:c.384-1G>C,NM_001261437:exon6:c.267-1G>C) chr17 41610717 41610717 C G het . 1 +intronic DHX8,ETV4 chr17 41610725 41610726 GA CC het . 1 +intronic DHX8,ETV4 chr17 41610728 41610728 A C het . 1 +intronic DHX8,ETV4 chr17 41610734 41610734 A C het . 1 +intronic DHX8,ETV4 chr17 41610741 41610741 T G het . 2 +UTR3 DUSP3(NM_004090:c.*13A>G) chr17 41846964 41846964 T C het . 6 +exonic MPP2 chr17 41960633 41960634 CG GC het . 19 +intronic MPP2 chr17 41982563 41982563 A T het . 1 +intronic PYY chr17 42074387 42074387 A T het . 2 +intronic LSM12 chr17 42116721 42116721 C A het . 1 +intronic LSM12 chr17 42119691 42119691 C A het . 2 +exonic HDAC5 chr17 42164885 42164885 G C het . 22 +exonic HDAC5 chr17 42170821 42170821 C A het . 30 +exonic TMUB2 chr17 42268119 42268119 G C het . 18 +intronic UBTF chr17 42294116 42294116 C A het . 10 +intergenic SLC4A1(dist=18805),RUNDC3A-AS1(dist=12635) chr17 42364307 42364307 G A het . 2 +intronic RUNDC3A chr17 42392077 42392077 T C het . 5 +intronic SLC25A39 chr17 42398741 42398741 C A het . 2 +intronic SLC25A39 chr17 42398757 42398757 C A het . 5 +intronic SLC25A39 chr17 42400329 42400329 C T het . 4 +intronic GRN chr17 42427544 42427544 - AGTC het . 9 +exonic ITGA2B chr17 42453065 42453065 A C het . 6 +intronic ITGA2B chr17 42455023 42455031 GAGCCCCTG - het . 15 +intronic ITGA2B chr17 42461429 42461429 C A het . 18 +exonic GPATCH8 chr17 42477803 42477803 C A het . 27 +intronic GPATCH8 chr17 42501963 42501963 T C het . 21 +UTR5 GPATCH8(NM_001304940:c.-30670_-30669insC) chr17 42544541 42544541 - G het . 14 +intronic GPATCH8 chr17 42552365 42552365 T - het . 11 +intergenic FZD2(dist=13408),LINC01180(dist=71694) chr17 42652038 42652038 C T het . 2 +intergenic FZD2(dist=21832),LINC01180(dist=63270) chr17 42660462 42660462 G T het . 2 +exonic MEIOC chr17 42745383 42745383 C A het . 30 +intronic DBF4B chr17 42824731 42824731 G A het . 4 +exonic ADAM11 chr17 42849802 42849802 C T het . 14 +intronic ADAM11 chr17 42850493 42850493 C G het . 4 +intronic EFTUD2 chr17 42945296 42945296 A G het . 11 +intronic EFTUD2 chr17 42960588 42960588 C T het . 13 +intronic EFTUD2 chr17 42960624 42960624 G A het . 8 +intronic GFAP chr17 42984869 42984869 C - het . 2 +intergenic C1QL1(dist=21884),DCAKD(dist=33178) chr17 43067528 43067528 C G het . 1 +intergenic C1QL1(dist=39168),DCAKD(dist=15894) chr17 43084812 43084812 C T het . 2 +intronic DCAKD chr17 43111160 43111160 C G het . 2 +intronic DCAKD chr17 43111162 43111162 A G het . 2 +intronic DCAKD chr17 43131623 43131623 T - het . 7 +intronic PLCD3 chr17 43190658 43190658 C T het . 5 +ncRNA_intronic LOC339192 chr17 43277758 43277758 T C het . 2 +exonic FMNL1 chr17 43319269 43319269 A C het . 2 +ncRNA_intronic MAP3K14-AS1 chr17 43333786 43333789 AGAC - het . 11 +exonic SPATA32 chr17 43334538 43334538 A G het . 18 +intronic MAP3K14 chr17 43352850 43352850 A - het . 2 +ncRNA_exonic LRRC37A4P chr17 43585795 43585795 C T het . 3 +intronic WNT9B chr17 44962363 44962363 T - het . 9 +intergenic WNT9B(dist=7556),GOSR2(dist=28831) chr17 44971652 44971652 C A het . 1 +intronic GOSR2 chr17 45009332 45009332 G C het . 8 +intronic GOSR2 chr17 45025319 45025319 A G het . 4 +intergenic RPRML(dist=23766),ARL17A(dist=28572) chr17 45080380 45080380 A G het . 1 +intergenic RPRML(dist=27069),ARL17A(dist=25269) chr17 45083683 45083683 A G het . 2 +upstream ARL17B(dist=446) chr17 45137961 45137961 A T het . 4 +intergenic ARL17B(dist=33920),CDC27(dist=23628) chr17 45171435 45171435 C T het . 3 +intronic MYL4 chr17 45288789 45288789 G T het . 2 +intergenic MYL4(dist=20162),ITGB3(dist=10001) chr17 45321207 45321207 - C het . 4 +intronic EFCAB13 chr17 45440167 45440167 C A het . 2 +intronic EFCAB13 chr17 45469032 45469032 T - het . 7 +intronic EFCAB13 chr17 45503539 45503539 T C het . 2 +intronic NPEPPS chr17 45646982 45646982 T - het . 2 +splicing NPEPPS(NM_001330257:exon12:c.1353+2->A,NM_006310:exon11:c.1365+2->A) chr17 45669428 45669428 - A het . 4 +intronic NPEPPS chr17 45689743 45689743 C A het . 10 +intronic NPEPPS chr17 45690030 45690030 T - het . 3 +intronic KPNB1 chr17 45757598 45757598 G A het . 4 +intergenic TBKBP1(dist=20085),TBX21(dist=1096) chr17 45809514 45809514 - G het . 2 +exonic TBX21 chr17 45820443 45820443 G A het . 5 +exonic TBX21 chr17 45822631 45822631 T C het . 15 +exonic OSBPL7 chr17 45885687 45885687 A G het . 22 +intronic CDK5RAP3 chr17 46048157 46048157 A G het . 4 +intronic CDK5RAP3 chr17 46048165 46048165 T C het . 4 +intronic CDK5RAP3 chr17 46048168 46048168 C T het . 3 +UTR5 CDK5RAP3(NM_001278217:c.-556_-555del-,NM_001278216:c.-1361_-1360del-,NM_001278198:c.-1361_-1360del-) chr17 46051896 46051897 CA - het . 4 +UTR5 CDK5RAP3(NM_001278217:c.-541G>A,NM_001278216:c.-1346G>A,NM_001278198:c.-1346G>A) chr17 46051911 46051911 G A het . 2 +intergenic CDK5RAP3(dist=39574),COPZ2(dist=4807) chr17 46098726 46098726 T C het . 3 +intronic COPZ2 chr17 46103848 46103848 T G het . 18 +intronic SKAP1 chr17 46441194 46441194 A G het . 12 +intergenic LOC101927166(dist=39223),HOXB1(dist=24182) chr17 46582625 46582625 G A het . 1 +intergenic LOC101927166(dist=43883),HOXB1(dist=19520) chr17 46587285 46587287 AAC - het . 3 +intronic HOXB3 chr17 46636258 46636258 A G het . 2 +ncRNA_intronic HOXB-AS3 chr17 46673723 46673724 TC GT het . 9 +exonic HOXB7 chr17 46688256 46688256 T C het . 3 +exonic HOXB9 chr17 46703548 46703548 A G het . 23 +intergenic MIR196A1(dist=58523),PRAC1(dist=30638) chr17 46768444 46768444 C A het . 16 +exonic HOXB13 chr17 46805561 46805561 C A het . 30 +intronic TTLL6 chr17 46855646 46855646 A - het . 4 +intronic TTLL6 chr17 46878834 46878834 C A het . 10 +intronic CALCOCO2 chr17 46939411 46939411 A - het . 2 +exonic ATP5MC1 chr17 46973125 46973125 C A het . 22 +ncRNA_intronic LOC105371814 chr17 46973140 46973140 G - het . 13 +intronic SNF8 chr17 47013630 47013630 C A het . 14 +intergenic SNF8(dist=6322),GIP(dist=7392) chr17 47028526 47028526 C T het . 2 +intronic GIP chr17 47039254 47039254 T C het . 7 +intronic GIP chr17 47039302 47039302 A T het . 4 +upstream GIP(dist=944) chr17 47046899 47046899 A C het . 1 +intergenic GIP(dist=1159),IGF2BP1(dist=27660) chr17 47047114 47047114 A G het . 1 +intergenic GIP(dist=20681),IGF2BP1(dist=8131) chr17 47066636 47066643 AAATAAAT - het . 2 +intronic IGF2BP1 chr17 47075333 47075333 C A het . 4 +intronic IGF2BP1 chr17 47076551 47076551 G T het . 6 +intronic IGF2BP1 chr17 47076557 47076557 G C het . 4 +intronic IGF2BP1 chr17 47087072 47087072 A - het . 2 +intronic IGF2BP1 chr17 47103982 47103997 CCTTCCTTCCTTCCTG - het . 2 +intronic IGF2BP1 chr17 47118523 47118523 A G het . 3 +exonic IGF2BP1 chr17 47122359 47122359 C A het . 24 +intergenic B4GALNT2(dist=12779),GNGT2(dist=23466) chr17 47260130 47260130 A G het . 6 +UTR5 GNGT2(NM_001198756:c.-3A>T,NM_001198755:c.-3A>T,NM_001198754:c.-3A>T,NM_031498:c.-3A>T) chr17 47284787 47284787 T A het . 6 +exonic ABI3 chr17 47297297 47297297 T C het . 16 +exonic ZNF652 chr17 47376131 47376131 C A het . 25 +intronic ZNF652 chr17 47417942 47417942 - A het . 2 +ncRNA_intronic LOC102724596 chr17 47446628 47446628 A G het . 2 +intronic PHB chr17 47486906 47486918 TTTTTTTTTTTTT - het . 4 +intronic SLC35B1 chr17 47779289 47779289 A - het . 4 +exonic SLC35B1 chr17 47780342 47780342 C A het . 17 +intronic KAT7 chr17 47904745 47904745 C A het . 11 +intronic ITGA3 chr17 48153906 48153908 GGG - het . 18 +intronic ITGA3 chr17 48153924 48153924 T C het . 18 +intergenic SGCA(dist=5028),COL1A1(dist=3136) chr17 48258321 48258321 C T het . 7 +intronic COL1A1 chr17 48265583 48265583 C T het . 3 +intronic COL1A1 chr17 48271420 48271420 G T het . 24 +intronic COL1A1 chr17 48271433 48271433 A G het . 22 +intronic COL1A1 chr17 48274291 48274291 T G het . 7 +intronic COL1A1 chr17 48274309 48274309 T C het . 10 +intronic COL1A1 chr17 48277060 48277080 GCCCCAGGCCCCAGGCCCCAG - het . 11 +intergenic LINC01969(dist=3801),TMEM92(dist=52185) chr17 48296582 48296582 C A het . 1 +intergenic LINC01969(dist=28482),TMEM92(dist=27504) chr17 48321263 48321263 T C het . 5 +exonic XYLT2 chr17 48431032 48431032 G A het . 5 +intergenic XYLT2(dist=1741),MRPL27(dist=4941) chr17 48440287 48440287 - TTTATTTA het . 7 +intronic MRPL27 chr17 48445675 48445682 CTGGTCAG - het . 4 +intronic ACSF2 chr17 48540668 48540668 T G het . 5 +downstream MYCBPAP(dist=89) chr17 48608951 48608951 C T het . 1 +exonic CACNA1G chr17 48677042 48677042 C T het . 19 +intronic CACNA1G chr17 48680297 48680297 T G het . 4 +intronic LUC7L3 chr17 48817598 48817598 - T het . 14 +intronic LUC7L3 chr17 48821201 48821201 T C het . 9 +intronic LUC7L3 chr17 48821207 48821207 T C het . 8 +downstream LUC7L3(dist=506) chr17 48834080 48834080 A G het . 4 +intergenic MIR8059(dist=2823),WFIKKN2(dist=63097) chr17 48848914 48848914 C T het . 2 +intergenic MIR8059(dist=2830),WFIKKN2(dist=63090) chr17 48848921 48848921 C A het . 2 +intergenic MIR8059(dist=11667),WFIKKN2(dist=54253) chr17 48857758 48857758 T - het . 3 +intergenic TOB1-AS1(dist=62168),SPAG9(dist=31635) chr17 49007900 49007900 - T het . 2 +intronic SPAG9 chr17 49054674 49054674 A - het . 11 +intergenic LINC02073(dist=35975),CA10(dist=148536) chr17 49559138 49559138 - T het . 2 +intronic CA10 chr17 49714273 49714273 A G het . 1 +intronic CA10 chr17 50149899 50149899 - T het . 2 +ncRNA_intronic LINC01982 chr17 50589901 50589904 CTAT - het . 2 +intergenic LINC01982(dist=288744),LINC02089(dist=37676) chr17 50901805 50901805 G T het . 4 +intergenic LINC01982(dist=306302),LINC02089(dist=20118) chr17 50919363 50919363 C A het . 2 +intergenic LINC02089(dist=8350),C17orf112(dist=77582) chr17 50985298 50985298 A G het . 3 +intergenic LINC02089(dist=17405),C17orf112(dist=68527) chr17 50994353 50994353 G A het . 2 +intergenic LINC02089(dist=49916),C17orf112(dist=36016) chr17 51026864 51026864 G T het . 1 +intergenic C17orf112(dist=172818),KIF2B(dist=662409) chr17 51237830 51237830 A G het . 2 +intergenic C17orf112(dist=380168),KIF2B(dist=455059) chr17 51445180 51445180 G T het . 2 +intergenic C17orf112(dist=472766),KIF2B(dist=362461) chr17 51537778 51537778 G C het . 1 +intergenic C17orf112(dist=655611),KIF2B(dist=179616) chr17 51720623 51720623 G T het . 2 +intergenic KIF2B(dist=49162),TOM1L1(dist=1026317) chr17 51951735 51951735 T A het . 2 +intergenic KIF2B(dist=128292),TOM1L1(dist=947187) chr17 52030865 52030865 G A het . 3 +intergenic KIF2B(dist=382519),TOM1L1(dist=692960) chr17 52285092 52285092 G - het . 3 +intergenic KIF2B(dist=544627),TOM1L1(dist=530852) chr17 52447200 52447200 A G het . 1 +intergenic KIF2B(dist=739422),TOM1L1(dist=336054) chr17 52641995 52641998 CAAC - het . 7 +intergenic KIF2B(dist=789147),TOM1L1(dist=286332) chr17 52691720 52691720 C T het . 2 +intergenic KIF2B(dist=929499),TOM1L1(dist=145980) chr17 52832072 52832072 - GCCAGGG het . 5 +intergenic KIF2B(dist=933011),TOM1L1(dist=142468) chr17 52835584 52835584 C T het . 1 +intronic TOM1L1 chr17 53016156 53016157 TT - het . 13 +intronic COX11 chr17 53041893 53041899 TTTAACT - het . 9 +intronic STXBP4 chr17 53084698 53084698 T - het . 7 +intronic HLF chr17 53346720 53346720 T C het . 1 +intronic HLF chr17 53392852 53392852 G A het . 9 +intergenic MMD(dist=151537),TMEM100(dist=146108) chr17 53650878 53650880 GTT - het . 2 +intergenic MMD(dist=228652),TMEM100(dist=68992) chr17 53727993 53727996 ATAA - het . 2 +intronic PCTP chr17 53863487 53863487 G A het . 2 +intergenic PCTP(dist=246972),ANKFN1(dist=83413) chr17 54147423 54147423 A T het . 1 +intergenic PCTP(dist=319630),ANKFN1(dist=10755) chr17 54220081 54220081 C T het . 3 +intronic ANKFN1 chr17 54558284 54558284 A G het . 2 +exonic DGKE chr17 54933971 54933971 C A het . 21 +intergenic TRIM25(dist=22808),COIL(dist=1344) chr17 55014217 55014217 T C het . 1 +intronic SCPEP1 chr17 55075671 55075671 A - het . 5 +intergenic SCPEP1(dist=22160),RNF126P1(dist=16550) chr17 55106289 55106289 G A het . 2 +UTR5 AKAP1(NM_001242902:c.-18999C>T) chr17 55163827 55163827 C T het . 7 +UTR5 AKAP1(NM_003488:c.-14del-,NM_001242903:c.-14del-,NM_001242902:c.-14del-) chr17 55182812 55182812 T - het . 39 +intergenic AKAP1(dist=35571),MSI2(dist=98931) chr17 55234281 55234281 A G het . 2 +intronic MSI2 chr17 55441101 55441103 AAC - het . 4 +intronic MSI2 chr17 55552066 55552071 TTTTTG - het . 3 +intronic MSI2 chr17 55574663 55574663 T C het . 1 +intergenic MSI2(dist=2768),CCDC182(dist=57024) chr17 55764818 55764818 T A het . 1 +intergenic MSI2(dist=25692),CCDC182(dist=34100) chr17 55787742 55787742 G A het . 2 +intergenic MSI2(dist=27137),CCDC182(dist=32655) chr17 55789187 55789187 C A het . 1 +intergenic CCDC182(dist=59791),MRPS23(dist=33801) chr17 55882481 55882486 TTTTTT - het . 2 +intergenic CCDC182(dist=59806),MRPS23(dist=33791) chr17 55882496 55882496 T G het . 2 +intergenic CCDC182(dist=59811),MRPS23(dist=33786) chr17 55882501 55882501 G T het . 2 +intergenic CCDC182(dist=85106),MRPS23(dist=8491) chr17 55907796 55907796 A T het . 2 +intronic CUEDC1 chr17 55979566 55979566 C A het . 2 +intronic CUEDC1 chr17 56015030 56015030 G A het . 1 +intergenic SRSF1(dist=23671),LOC101927666(dist=45874) chr17 56108378 56108378 - AAAAAT het . 2 +intergenic SRSF1(dist=56404),LOC101927666(dist=13141) chr17 56141111 56141111 - A het . 4 +intergenic DYNLL2(dist=32724),OR4D1(dist=32173) chr17 56200342 56200342 T - het . 2 +intergenic DYNLL2(dist=34576),OR4D1(dist=30321) chr17 56202194 56202194 A T het . 3 +ncRNA_exonic MSX2P1 chr17 56235322 56235322 G A het . 3 +exonic OR4D2 chr17 56247101 56247101 C A het . 27 +exonic MKS1 chr17 56284539 56284539 C A het . 25 +exonic TSPOAP1 chr17 56386194 56386194 C T het . 12 +ncRNA_intronic TSPOAP1-AS1 chr17 56408751 56408751 C A het . 3 +ncRNA_intronic TSPOAP1-AS1 chr17 56423750 56423750 G C het . 14 +exonic MTMR4 chr17 56581692 56581692 C A het . 15 +intronic TEX14 chr17 56647529 56647529 A - het . 2 +intronic TEX14 chr17 56649615 56649622 AAACAAAC - het . 3 +intronic TEX14 chr17 56654850 56654850 A T het . 11 +intronic TEX14 chr17 56688789 56688789 T G het . 3 +intronic TEX14 chr17 56691034 56691034 T C het . 5 +intronic TEX14 chr17 56707987 56707987 G C het . 11 +intronic TEX14 chr17 56736473 56736473 A C het . 2 +intronic TEX14 chr17 56761824 56761824 A C het . 1 +intronic PPM1E chr17 56870076 56870076 T G het . 2 +intronic PPM1E chr17 56953780 56953780 G A het . 1 +intronic PPM1E chr17 56953786 56953786 A C het . 1 +intronic PPM1E chr17 57043714 57043714 A - het . 9 +intronic PPM1E chr17 57043742 57043742 C A het . 9 +intronic PPM1E chr17 57043780 57043783 AAAA - het . 5 +UTR3 PPM1E(NM_014906:c.*46C>A) chr17 57058438 57058438 C A het . 7 +UTR3 PPM1E(NM_014906:c.*1960delA) chr17 57060352 57060352 A - het . 9 +intronic TRIM37 chr17 57089884 57089884 C A het . 14 +intronic TRIM37 chr17 57107349 57107358 ATTCATCAGG - het . 2 +intronic TRIM37 chr17 57148099 57148099 - A het . 21 +intronic TRIM37 chr17 57180234 57180234 A C het . 1 +intronic SKA2 chr17 57194237 57194237 G T het . 1 +intronic GDPD1 chr17 57311744 57311744 C - het . 9 +intronic GDPD1 chr17 57325931 57325931 A G het . 3 +intergenic GDPD1(dist=5096),YPEL2(dist=50627) chr17 57358426 57358426 G A het . 7 +intronic YPEL2 chr17 57470664 57470666 TTT - het . 2 +intergenic DHX40(dist=1750),CLTC(dist=9587) chr17 57687463 57687463 T - het . 4 +intronic CLTC chr17 57721907 57721907 - TTTG het . 12 +intronic VMP1 chr17 57801573 57801573 A - het . 2 +exonic VMP1 chr17 57812797 57812797 C T het . 19 +intronic VMP1 chr17 57817162 57817162 T C het . 5 +intronic VMP1 chr17 57845471 57845471 A - het . 3 +intronic VMP1 chr17 57909935 57909939 TTTGT - het . 5 +intergenic VMP1(dist=6776),TUBD1(dist=10449) chr17 57926392 57926392 T - het . 2 +intronic TUBD1 chr17 57944152 57944152 C A het . 12 +intronic TUBD1 chr17 57945784 57945784 C T het . 2 +intronic RPS6KB1 chr17 57988489 57988489 C T het . 2 +intronic RNFT1 chr17 58030552 58030552 T - het . 4 +ncRNA_intronic RNFT1-DT,TBC1D3P1-DHX40P1 chr17 58066608 58066608 T - het . 6 +splicing HEATR6(NM_022070:exon16:c.2425-1G>T) chr17 58127064 58127064 C A het . 4 +intronic HEATR6 chr17 58143889 58143889 C T het . 14 +intronic HEATR6 chr17 58149745 58149745 G A het . 6 +ncRNA_exonic LOC653653 chr17 58180062 58180062 T C het . 16 +ncRNA_exonic LOC653653 chr17 58180079 58180079 C G het . 13 +intronic USP32 chr17 58346687 58346687 A G het . 9 +intergenic C17orf64(dist=7396),APPBP2(dist=4327) chr17 58516183 58516183 A T het . 2 +intronic BCAS3 chr17 59065660 59065660 G T het . 3 +intronic BCAS3 chr17 59250810 59250810 - A het . 2 +intronic BCAS3 chr17 59431266 59431266 G C het . 2 +intronic TBX2 chr17 59482166 59482166 C - het . 14 +intronic TBX2 chr17 59482169 59482169 C G het . 14 +intronic TBX2 chr17 59482173 59482173 G A het . 13 +intronic TBX4 chr17 59543136 59543136 G C het . 4 +intergenic TBX4(dist=64637),NACA2(dist=40686) chr17 59627108 59627108 T C het . 2 +intergenic TBX4(dist=66523),NACA2(dist=38800) chr17 59628994 59628994 - G het . 2 +intergenic TBX4(dist=66524),NACA2(dist=38799) chr17 59628995 59628995 T G het . 2 +intergenic NACA2(dist=63355),BRIP1(dist=24629) chr17 59731918 59731918 A T het . 2 +intronic BRIP1 chr17 59855689 59855689 A G het . 4 +intronic BRIP1 chr17 59858090 59858092 AAC - het . 17 +intronic INTS2 chr17 59955887 59955887 C T het . 2 +intronic INTS2 chr17 59971067 59971067 A T het . 7 +intergenic MED13(dist=31507),TBC1D3P2(dist=167917) chr17 60174150 60174150 T A het . 2 +intergenic MED13(dist=71631),TBC1D3P2(dist=127793) chr17 60214274 60214274 T - het . 13 +intergenic TBC1D3P2(dist=37788),EFCAB3(dist=56775) chr17 60390804 60390804 A G het . 3 +intergenic TBC1D3P2(dist=68898),EFCAB3(dist=25665) chr17 60421914 60421914 G A het . 2 +intronic EFCAB3 chr17 60455184 60455184 - AAG het . 7 +intronic EFCAB3 chr17 60471102 60471102 G A het . 5 +intronic TLK2 chr17 60593626 60593627 TT - het . 11 +intronic TLK2 chr17 60651885 60651885 T - het . 12 +intronic TLK2 chr17 60663727 60663727 C A het . 8 +exonic MARCH10 chr17 60813608 60813608 C A het . 22 +exonic MARCH10 chr17 60813627 60813627 G A het . 23 +intronic MARCH10 chr17 60843868 60843868 G A het . 2 +intronic MARCH10 chr17 60843891 60843891 T C het . 2 +intronic MARCH10 chr17 60878927 60878927 C A het . 6 +intergenic LOC101927877(dist=64051),MIR633(dist=43793) chr17 60977783 60977783 A C het . 2 +intronic TANC2 chr17 61087073 61087073 A G het . 7 +intronic TANC2 chr17 61343753 61343753 A G het . 2 +intronic TANC2 chr17 61488308 61488308 G T het . 4 +exonic TANC2 chr17 61498391 61498391 C A het . 17 +intergenic CYB561(dist=17657),ACE(dist=13043) chr17 61541379 61541379 G A het . 4 +exonic ACE chr17 61557829 61557829 C A het . 21 +intronic ACE chr17 61561412 61561412 T G het . 1 +intronic ACE chr17 61561422 61561422 T G het . 1 +intronic ACE chr17 61574022 61574022 C T het . 7 +intergenic ACE(dist=17788),KCNH6(dist=7163) chr17 61593529 61593532 AAAT - het . 2 +exonic KCNH6 chr17 61611423 61611423 T C het . 8 +intronic MAP3K3 chr17 61765992 61765992 T G het . 11 +intronic STRADA chr17 61818390 61818390 A G het . 3 +intronic CCDC47 chr17 61838259 61838259 G A het . 11 +exonic DDX42 chr17 61895289 61895289 G C het . 15 +intronic FTSJ3 chr17 61902822 61902822 C G het . 15 +exonic FTSJ3 chr17 61903940 61903940 C A het . 15 +intronic GH2 chr17 61958955 61958956 TT - het . 11 +intronic GH2 chr17 61958965 61958966 TC - het . 10 +intergenic GH2(dist=7648),CSH1(dist=5318) chr17 61966950 61966950 A C het . 2 +UTR3 ERN1(NM_001433:c.*1007T>A) chr17 62120341 62120341 A T het . 1 +intronic ERN1 chr17 62122145 62122145 A G het . 5 +intronic ERN1 chr17 62123022 62123022 C T het . 1 +intronic ERN1 chr17 62152611 62152611 - A het . 3 +intronic ERN1 chr17 62158319 62158319 T C het . 2 +intergenic TEX2(dist=35004),PECAM1(dist=21090) chr17 62375687 62375687 A G het . 2 +intergenic TEX2(dist=35018),PECAM1(dist=21076) chr17 62375701 62375701 T - het . 2 +ncRNA_exonic ARHGAP27P1-BPTFP1-KPNA2P3 chr17 62748073 62748073 G C het . 4 +ncRNA_intronic ARHGAP27P1-BPTFP1-KPNA2P3 chr17 62748077 62748077 A - het . 4 +intergenic LRRC37A3(dist=32091),AMZ2P1(dist=14968) chr17 62947700 62947700 C T het . 8 +intergenic LOC100507002(dist=21945),RGS9(dist=4296) chr17 63129157 63129160 CAAA - het . 2 +intronic RGS9 chr17 63197838 63197838 G A het . 1 +intergenic RGS9(dist=19331),LINC02563(dist=210500) chr17 63243152 63243159 AAAAAAAA - het . 2 +intergenic RGS9(dist=82601),LINC02563(dist=147237) chr17 63306422 63306422 C A het . 1 +intergenic RGS9(dist=218387),LINC02563(dist=11451) chr17 63442208 63442208 - T het . 2 +intergenic LINC02563(dist=58940),AXIN2(dist=11217) chr17 63513466 63513466 A G het . 3 +intergenic LINC02563(dist=58955),AXIN2(dist=11202) chr17 63513481 63513481 C G het . 2 +intronic AXIN2 chr17 63532767 63532767 C G het . 14 +intronic AXIN2 chr17 63532779 63532779 - A het . 9 +intronic AXIN2 chr17 63534250 63534250 T C het . 6 +intronic CEP112 chr17 63746668 63746668 - A het . 9 +intronic CEP112 chr17 63952419 63952419 T C het . 2 +intronic CEP112 chr17 63952510 63952510 A G het . 1 +intronic CEP112 chr17 63970197 63970197 A T het . 3 +intronic CEP112 chr17 63970202 63970202 T - het . 3 +intronic CEP112 chr17 63997392 63997392 C A het . 2 +intronic CEP112 chr17 64048241 64048241 G A het . 1 +intronic CEP112 chr17 64126152 64126152 C A het . 6 +intronic CEP112 chr17 64134860 64134860 T C het . 2 +intronic CEP112 chr17 64179537 64179537 T C het . 14 +intronic CEP112 chr17 64179607 64179607 A G het . 5 +intergenic CEP112(dist=13463),APOH(dist=6335) chr17 64201812 64201812 G T het . 2 +exonic APOH chr17 64224220 64224220 C A het . 24 +intergenic APOH(dist=37632),PRKCA(dist=35738) chr17 64263188 64263188 - AAAC het . 6 +ncRNA_intronic PRKCA-AS1 chr17 64405893 64405893 A G het . 2 +intronic PRKCA chr17 64438184 64438184 C T het . 2 +intronic PRKCA chr17 64567162 64567162 T C het . 1 +intronic PRKCA chr17 64591567 64591567 A C het . 2 +intronic PRKCA chr17 64684642 64684642 T C het . 5 +intronic PRKCA chr17 64790735 64790735 G T het . 2 +intergenic PRKCA(dist=43423),CACNG5(dist=23106) chr17 64850285 64850285 C T het . 2 +intronic HELZ chr17 65142070 65142070 - A het . 17 +intronic HELZ chr17 65146246 65146246 - TT het . 2 +exonic HELZ chr17 65186301 65186301 C A het . 25 +intergenic LOC101928021(dist=36710),PSMD12(dist=39126) chr17 65294906 65294906 A G het . 2 +intronic PSMD12 chr17 65346230 65346230 G A het . 5 +intronic PITPNC1 chr17 65496765 65496765 T - het . 2 +intronic PITPNC1 chr17 65539872 65539872 A G het . 2 +intronic PITPNC1 chr17 65687914 65687914 G A het . 2 +intronic NOL11 chr17 65725217 65725217 T - het . 3 +intronic NOL11 chr17 65732959 65732959 A G het . 10 +intergenic NOL11(dist=35789),BPTF(dist=45667) chr17 65776113 65776113 G A het . 1 +intronic BPTF chr17 65913949 65913949 A C het . 1 +intronic BPTF chr17 65971836 65971836 C T het . 9 +intergenic C17orf58(dist=17942),KPNA2(dist=24011) chr17 66007707 66007707 T C het . 2 +intronic KPNA2 chr17 66038980 66038980 A - het . 6 +intergenic KPNA2(dist=29929),LINC00674(dist=24792) chr17 66072904 66072904 C A het . 1 +intergenic LINC00674(dist=15479),ARHGAP27P2(dist=47252) chr17 66147549 66147549 G C het . 8 +intergenic LINC00674(dist=15492),ARHGAP27P2(dist=47239) chr17 66147562 66147562 C G het . 9 +intergenic LINC00674(dist=32725),ARHGAP27P2(dist=30006) chr17 66164795 66164795 C T het . 2 +intergenic LINC00674(dist=32811),ARHGAP27P2(dist=29920) chr17 66164881 66164881 C G het . 4 +intronic AMZ2 chr17 66227431 66227431 T C het . 2 +intronic ARSG chr17 66350561 66350561 A G het . 3 +exonic;splicing ARSG;ARSG(NM_001352904:exon7:c.705-1C>G,NM_001352903:exon7:c.705-1C>G,NM_001352907:exon7:c.705-1C>G,NM_001352906:exon7:c.705-1C>G,NM_001352905:exon7:c.705-1C>G) chr17 66364691 66364691 C G het . 5 +intronic ARSG chr17 66366690 66366690 G T het . 7 +intronic ARSG,PRKAR1A,WIPI1 chr17 66440550 66440550 C A het . 8 +intronic ARSG,PRKAR1A,WIPI1 chr17 66440559 66440559 G T het . 8 +intronic PRKAR1A chr17 66522105 66522105 C A het . 19 +intronic FAM20A,PRKAR1A chr17 66536213 66536214 AG - het . 6 +intronic FAM20A,PRKAR1A chr17 66536219 66536219 G C het . 6 +intronic FAM20A chr17 66547865 66547865 T C het . 3 +intronic FAM20A chr17 66569594 66569601 TTTCTTCT - het . 2 +intronic FAM20A chr17 66577723 66577723 T - het . 2 +intergenic LINC01482(dist=26618),ABCA8(dist=161063) chr17 66702365 66702365 G A het . 2 +intronic ABCA8 chr17 66899710 66899710 C G het . 8 +intronic ABCA8 chr17 66899725 66899725 C G het . 7 +intronic ABCA8 chr17 66899733 66899733 C T het . 4 +intronic ABCA8 chr17 66938232 66938232 A G het . 14 +intronic ABCA8 chr17 66938260 66938260 A G het . 13 +ncRNA_intronic ABCA9-AS1 chr17 67012265 67012266 AC - het . 2 +intronic ABCA9 chr17 67031369 67031369 T C het . 3 +intronic ABCA6 chr17 67096773 67096773 A - het . 2 +intronic ABCA6 chr17 67097212 67097212 T C het . 2 +intronic ABCA6 chr17 67099129 67099129 A G het . 12 +intronic ABCA6 chr17 67132155 67132155 C A het . 12 +intronic ABCA10 chr17 67150562 67150563 TT - het . 3 +intronic ABCA10 chr17 67175346 67175346 - A het . 2 +intronic ABCA10 chr17 67178954 67178954 C T het . 7 +intronic ABCA10 chr17 67188668 67188668 T C het . 9 +intronic ABCA10 chr17 67218197 67218197 A G het . 1 +intronic ABCA5 chr17 67261335 67261335 C T het . 1 +intronic ABCA5 chr17 67279959 67279959 - AGTA het . 11 +intronic ABCA5 chr17 67297674 67297674 A T het . 2 +exonic ABCA5 chr17 67298864 67298864 C A het . 14 +intronic MAP2K6 chr17 67431559 67431559 C G het . 2 +ncRNA_intronic LINC01483 chr17 67850958 67850958 C T het . 2 +ncRNA_intronic LINC01483 chr17 67864367 67864367 T C het . 2 +intergenic LINC01483(dist=9321),LINC01497(dist=49386) chr17 67908462 67908462 G T het . 1 +intergenic LINC01483(dist=9345),LINC01497(dist=49362) chr17 67908486 67908486 C T het . 3 +intergenic KCNJ2(dist=13798),CASC17(dist=903934) chr17 68189981 68189981 C T het . 2 +intergenic KCNJ2(dist=204331),CASC17(dist=713401) chr17 68380514 68380514 C T het . 1 +intergenic KCNJ2(dist=628129),CASC17(dist=289603) chr17 68804312 68804312 A - het . 4 +intergenic KCNJ2(dist=713790),CASC17(dist=203942) chr17 68889973 68889973 C T het . 2 +intergenic KCNJ2(dist=713802),CASC17(dist=203930) chr17 68889985 68889985 C T het . 1 +intergenic CASC17(dist=99159),ROCR(dist=720513) chr17 69297479 69297479 - TC het . 2 +intergenic CASC17(dist=163653),ROCR(dist=656015) chr17 69361973 69361977 TTTCT - het . 3 +intergenic CASC17(dist=204094),ROCR(dist=615577) chr17 69402414 69402415 TT - het . 2 +ncRNA_intronic LINC01152 chr17 70028904 70028904 T G het . 3 +intergenic SOX9(dist=87502),LINC02003(dist=128890) chr17 70210062 70210062 C T het . 1 +intergenic SOX9(dist=127077),LINC02003(dist=89315) chr17 70249637 70249637 C A het . 2 +ncRNA_intronic LINC00511 chr17 70608589 70608589 A T het . 3 +intronic SLC39A11 chr17 70645446 70645446 A G het . 12 +intronic SLC39A11 chr17 70705080 70705080 T - het . 2 +intronic SLC39A11 chr17 70718219 70718219 A - het . 2 +intronic SLC39A11 chr17 70794557 70794557 C T het . 1 +intronic SLC39A11 chr17 70830772 70830772 - AATAA het . 2 +intronic SLC39A11 chr17 70919130 70919130 C A het . 2 +intergenic SSTR2(dist=13840),COG1(dist=7270) chr17 71181902 71181903 AG GA het . 3 +exonic COG1 chr17 71196809 71196809 A G het . 39 +exonic COG1 chr17 71197748 71197748 G A het . 21 +intronic COG1 chr17 71201675 71201675 T C het . 14 +UTR3 FAM104A(NM_032837:c.*1983G>T,NM_001098832:c.*1983G>T,NM_001289412:c.*1983G>T,NM_001289411:c.*2132G>T,NM_001289410:c.*2132G>T) chr17 71203685 71203685 C A het . 5 +intronic FAM104A chr17 71223425 71223426 AA - het . 7 +exonic C17orf80 chr17 71232117 71232117 C A het . 52 +intronic C17orf80 chr17 71239215 71239216 AA - het . 13 +intronic C17orf80 chr17 71239227 71239227 - G het . 14 +intronic C17orf80 chr17 71239234 71239234 - TTTG het . 12 +intronic CDC42EP4 chr17 71286018 71286018 C A het . 3 +intronic SDK2 chr17 71346353 71346354 AA CC het . 2 +intronic SDK2 chr17 71353985 71353985 T C het . 2 +intronic SDK2 chr17 71358045 71358045 T C het . 4 +intronic SDK2 chr17 71405738 71405738 T C het . 1 +exonic SDK2 chr17 71426656 71426656 G T het . 11 +exonic SDK2 chr17 71426670 71426670 G A het . 9 +exonic SDK2 chr17 71452102 71452102 G A het . 7 +intergenic LINC00469(dist=178822),RPL38(dist=196297) chr17 72003498 72003498 C A het . 3 +intergenic LINC00469(dist=178844),RPL38(dist=196275) chr17 72003520 72003520 - TGGGAATG het . 4 +intergenic LINC00469(dist=215844),RPL38(dist=159275) chr17 72040520 72040520 G T het . 2 +intergenic LINC00469(dist=322669),RPL38(dist=52450) chr17 72147345 72147345 C A het . 2 +intergenic LINC00469(dist=322676),RPL38(dist=52443) chr17 72147352 72147352 A C het . 2 +UTR5 RPL38(NM_001035258:c.-14C>A,NM_000999:c.-14C>A) chr17 72200081 72200081 C A het . 5 +intergenic TTYH2(dist=2491),DNAI2(dist=9701) chr17 72260648 72260648 - C het . 6 +intronic DNAI2 chr17 72273608 72273608 G A het . 2 +intronic DNAI2 chr17 72285660 72285661 AA - het . 5 +intronic DNAI2 chr17 72287971 72287971 A G het . 2 +intronic DNAI2 chr17 72296489 72296489 C T het . 2 +intronic DNAI2 chr17 72306117 72306118 CT - het . 13 +intronic KIF19 chr17 72349327 72349327 A G het . 5 +intergenic GPR142(dist=17438),GPRC5C(dist=41490) chr17 72386177 72386177 T C het . 3 +intergenic GPR142(dist=17891),GPRC5C(dist=41034) chr17 72386630 72386633 CTTC - het . 1 +intergenic CD300A(dist=11271),CD300LB(dist=25103) chr17 72492208 72492210 TAT - het . 2 +intergenic CD300A(dist=11275),CD300LB(dist=25101) chr17 72492212 72492212 T A het . 2 +exonic CD300E chr17 72613589 72613589 T G het . 4 +intronic TMEM104 chr17 72791088 72791088 - G het . 9 +exonic FDXR chr17 72859245 72859245 C A het . 7 +intronic FDXR chr17 72862231 72862231 C T het . 2 +exonic FADS6 chr17 72889685 72889685 G A het . 2 +exonic HID1 chr17 72948369 72948369 A G het . 20 +exonic HID1 chr17 72949736 72949736 C A het . 18 +intronic HID1 chr17 72954584 72954584 T G het . 8 +intronic HID1 chr17 72954598 72954598 T G het . 10 +intronic CDR2L chr17 72993159 72993159 C T het . 2 +intronic CDR2L chr17 72993163 72993163 C T het . 2 +intronic CDR2L chr17 72993167 72993167 C T het . 2 +intronic CDR2L chr17 72995377 72995377 C A het . 5 +intronic NT5C chr17 73126747 73126747 T - het . 7 +intronic NT5C chr17 73127024 73127024 C G het . 5 +intronic NUP85 chr17 73204530 73204530 T C het . 10 +intronic NUP85 chr17 73208177 73208178 GC - het . 6 +intronic GGA3 chr17 73242895 73242895 A G het . 16 +intronic GGA3,MRPS7 chr17 73258086 73258087 GC - het . 17 +exonic MRPS7 chr17 73261849 73261849 C T het . 33 +ncRNA_exonic LOC100287042 chr17 73269841 73269841 - TTATT het . 6 +intergenic MIR3678(dist=9021),TMEM94(dist=41280) chr17 73411264 73411265 AA - het . 2 +intergenic MIR3678(dist=9037),TMEM94(dist=41265) chr17 73411280 73411280 A G het . 2 +intronic TMEM94 chr17 73467795 73467795 A - het . 2 +intronic TSEN54 chr17 73514944 73514944 A G het . 6 +intronic MYO15B chr17 73587640 73587640 T C het . 1 +exonic MYO15B chr17 73592612 73592612 C T het . 14 +intronic MYO15B chr17 73601517 73601517 - AA het . 3 +intronic MYO15B chr17 73602562 73602562 - T het . 3 +intronic MYO15B chr17 73619953 73619957 CTTCT - het . 8 +intronic MYO15B chr17 73619958 73619958 - GT het . 8 +UTR3 RECQL5(NM_004259:c.*249T>C) chr17 73623253 73623253 A G het . 6 +intronic SAP30BP chr17 73698557 73698557 C T het . 3 +intronic SAP30BP chr17 73702317 73702317 A G het . 4 +intronic ITGB4 chr17 73746370 73746370 T C het . 3 +intronic ITGB4 chr17 73747236 73747236 A G het . 8 +intronic ITGB4 chr17 73751040 73751040 C T het . 10 +intronic ITGB4 chr17 73751042 73751042 - ACAT het . 9 +intronic ITGB4 chr17 73751043 73751043 G A het . 10 +intronic ITGB4 chr17 73751081 73751081 A T het . 4 +UTR3 UNC13D(NM_199242:c.*326C>T) chr17 73823720 73823720 G A het . 12 +exonic UNC13D chr17 73830188 73830188 C T het . 34 +intronic UNC13D chr17 73837142 73837142 A C het . 6 +intronic FBF1 chr17 73906934 73906934 G A het . 13 +intronic FBF1 chr17 73913729 73913729 C G het . 2 +exonic EVPL chr17 74003539 74003539 G A het . 3 +intronic EVPL chr17 74017493 74017501 CCGCCCCTG - het . 9 +intronic SRP68 chr17 74046636 74046636 C A het . 6 +intronic SRP68 chr17 74046672 74046672 A G het . 5 +downstream GALR2(dist=574) chr17 74074196 74074196 A G het . 4 +intronic QRICH2 chr17 74286033 74286034 AA - het . 12 +intronic PRPSAP1 chr17 74324729 74324729 C A het . 8 +intronic PRPSAP1 chr17 74326553 74326553 G A het . 8 +intronic PRPSAP1 chr17 74326556 74326556 A T het . 8 +intronic CYGB chr17 74527294 74527294 C T het . 4 +intronic PRCD chr17 74536333 74536333 C G het . 5 +intronic PRCD chr17 74536337 74536337 G C het . 4 +UTR5 ST6GALNAC2(NM_006456:c.-55_-56delinsGC) chr17 74581945 74581946 AA GC het . 6 +intergenic ST6GALNAC2(dist=1203),ST6GALNAC1(dist=37487) chr17 74583348 74583351 CATT - het . 1 +intronic ST6GALNAC1 chr17 74624669 74624669 T C het . 1 +intronic METTL23 chr17 74726771 74726771 C T het . 2 +intronic MFSD11 chr17 74766137 74766138 AG - het . 16 +exonic MFSD11 chr17 74774299 74774299 C A het . 19 +ncRNA_intronic LOC105371899 chr17 74950067 74950068 CA - het . 2 +intergenic LOC105371899(dist=109179),SEC14L1(dist=10265) chr17 75074460 75074460 A G het . 2 +intronic SEC14L1 chr17 75192153 75192153 A G het . 3 +intronic SEC14L1 chr17 75192164 75192164 C T het . 3 +intronic SEPT9 chr17 75361404 75361404 T C het . 4 +intergenic LOC100507351(dist=109482),LINC01987(dist=48325) chr17 75670585 75670629 GATGATGATGATGGTGACGACGATGATGATGATGGTGACGACGAT - het . 3 +UTR3 BIRC5(NM_001168:c.*148T>C,NM_001012271:c.*148T>C,NM_001012270:c.*45T>C) chr17 76219783 76219783 T C het . 4 +ncRNA_intronic LOC101928674 chr17 76358479 76358479 A - het . 2 +intronic PGS1 chr17 76411154 76411154 - G het . 8 +intronic DNAH17 chr17 76446689 76446689 A G het . 7 +intronic DNAH17 chr17 76459185 76459185 C A het . 4 +ncRNA_intronic DNAH17-AS1 chr17 76490321 76490321 C T het . 6 +intronic DNAH17 chr17 76521291 76521291 T C het . 5 +exonic DNAH17 chr17 76525628 76525628 G A het . 19 +intronic DNAH17 chr17 76528831 76528831 G A het . 7 +intergenic DNAH17(dist=35853),LINC02081(dist=4137) chr17 76609329 76609329 G A het . 1 +intronic CYTH1 chr17 76704258 76704258 C T het . 15 +exonic USP36 chr17 76798549 76798554 TTTTTC - het . 24 +intronic USP36 chr17 76807250 76807250 - AG het . 1 +intergenic USP36(dist=10772),TIMP2(dist=1678) chr17 76847381 76847381 C A het . 1 +intergenic TIMP2(dist=43188),LGALS3BP(dist=2675) chr17 76964660 76964660 - T het . 5 +ncRNA_intronic C1QTNF1-AS1 chr17 77021986 77021988 CAT - het . 27 +intronic C1QTNF1 chr17 77039835 77039835 G A het . 16 +intronic C1QTNF1 chr17 77039852 77039852 G A het . 21 +intronic ENGASE chr17 77078955 77078955 T C het . 7 +intronic RBFOX3 chr17 77097811 77097811 G C het . 5 +intronic RBFOX3 chr17 77252347 77252347 C T het . 2 +intronic RBFOX3 chr17 77281796 77281796 C - het . 2 +intronic RBFOX3 chr17 77336491 77336491 A G het . 3 +intronic RBFOX3 chr17 77336509 77336509 C T het . 2 +intergenic ENPP7(dist=26525),CBX2(dist=9431) chr17 77742546 77742546 C T het . 1 +exonic CBX8 chr17 77768487 77768487 C A het . 8 +intergenic CBX4(dist=20781),LINC01979(dist=55057) chr17 77833994 77833994 C T het . 2 +intergenic CBX4(dist=41241),LINC01979(dist=34597) chr17 77854454 77854454 T C het . 3 +ncRNA_exonic LINC01979 chr17 77891806 77891806 T C het . 2 +intronic TBC1D16 chr17 77989837 77989837 T C het . 2 +intronic CCDC40 chr17 78046783 78046783 - TTTG het . 4 +intronic CCDC40 chr17 78061270 78061270 G C het . 6 +intronic CCDC40 chr17 78061274 78061274 C T het . 8 +intronic CCDC40 chr17 78061979 78061979 A C het . 9 +exonic CCDC40 chr17 78064015 78064015 G C het . 8 +exonic CCDC40 chr17 78073562 78073562 A G het . 14 +UTR3 CCDC40(NM_017950:c.*15T>C) chr17 78073589 78073589 T C het . 12 +exonic GAA chr17 78091405 78091405 G A het . 12 +intergenic GAA(dist=5805),EIF4A3(dist=9527) chr17 78099486 78099486 A G het . 3 +intronic EIF4A3 chr17 78118108 78118108 C A het . 15 +upstream EIF4A3(dist=188) chr17 78121170 78121170 G T het . 2 +exonic CARD14 chr17 78169004 78169004 G A het . 3 +exonic SLC26A11 chr17 78196507 78196507 C T het . 10 +intronic RNF213 chr17 78263392 78263393 AA - het . 16 +exonic RNF213 chr17 78263489 78263489 C G het . 41 +intronic RNF213 chr17 78264613 78264613 T - het . 13 +intronic RNF213 chr17 78281655 78281655 T - het . 1 +intronic RNF213 chr17 78281659 78281659 T G het . 1 +intronic RNF213 chr17 78281661 78281661 T G het . 1 +exonic RNF213 chr17 78293055 78293055 C A het . 31 +exonic RNF213 chr17 78302157 78302157 C A het . 11 +intronic RNF213 chr17 78308417 78308417 T - het . 2 +intronic RNF213 chr17 78308425 78308425 T G het . 2 +exonic RNF213 chr17 78321377 78321377 C A het . 30 +ncRNA_intronic LOC100294362 chr17 78343199 78343201 AAA - het . 9 +ncRNA_intronic LOC100294362 chr17 78362300 78362300 A T het . 5 +intronic ENDOV chr17 78396091 78396091 C G het . 3 +intergenic ENDOV(dist=23351),NPTX1(dist=5395) chr17 78435235 78435238 AAAG - het . 3 +intronic RPTOR chr17 78528569 78528569 - AAC het . 3 +intronic RPTOR chr17 78931540 78931540 C A het . 11 +ncRNA_exonic BAIAP2-DT chr17 79005020 79005020 C A het . 12 +exonic BAIAP2 chr17 79060351 79060351 C A het . 20 +UTR3 BAIAP2(NM_006340:c.*647C>T,NM_017451:c.*93C>T,NM_001144888:c.*559C>T) chr17 79090198 79090198 C T het . 5 +intronic AATK chr17 79102194 79102196 AGG - het . 12 +intronic AATK chr17 79119070 79119070 - A het . 2 +intronic CEP131 chr17 79166468 79166468 G - het . 4 +intronic CEP131 chr17 79166473 79166473 C T het . 5 +intergenic SLC38A10(dist=3114),LINC00482(dist=4371) chr17 79272253 79272253 C A het . 2 +intronic TMEM105 chr17 79288337 79288337 C G het . 2 +intronic TMEM105 chr17 79300488 79300488 G A het . 1 +intronic BAHCC1 chr17 79389251 79389251 C T het . 6 +exonic BAHCC1 chr17 79409710 79409710 G A het . 3 +intronic ACTG1 chr17 79477899 79477899 C - het . 29 +exonic ACTG1 chr17 79479305 79479305 C A het . 45 +exonic FSCN2 chr17 79496187 79496187 C A het . 20 +exonic FSCN2 chr17 79503730 79503730 C A het . 14 +intronic FAAP100 chr17 79508484 79508484 G A het . 3 +intronic FAAP100 chr17 79508506 79508506 G T het . 2 +intronic NPLOC4 chr17 79572841 79572842 AC - het . 1 +intronic TSPAN10 chr17 79604478 79604482 TTTTT - het . 9 +intronic TSPAN10 chr17 79604494 79604494 T C het . 11 +intronic TSPAN10 chr17 79611297 79611297 G A het . 2 +intronic TSPAN10 chr17 79611593 79611594 AT GC het . 3 +exonic TSPAN10 chr17 79612333 79612333 G A het . 3 +intronic TSPAN10 chr17 79614481 79614481 A G het . 9 +downstream TSPAN10(dist=597) chr17 79616382 79616382 A G het . 3 +UTR3 PDE6G(NM_002602:c.*570T>C) chr17 79617534 79617534 A G het . 6 +intronic CCDC137 chr17 79639198 79639198 C T het . 11 +exonic CCDC137 chr17 79639684 79639684 G A het . 4 +downstream ARL16(dist=558) chr17 79647637 79647637 C G het . 1 +downstream ARL16(dist=553) chr17 79647642 79647642 G T het . 1 +intronic GCGR chr17 79769446 79769446 C T het . 17 +intronic MCRIP1 chr17 79781406 79781406 T C het . 4 +intronic PCYT2 chr17 79862882 79862882 C G het . 9 +intronic PCYT2 chr17 79866736 79866736 C T het . 1 +intronic PYCR1 chr17 79894107 79894107 T - het . 14 +intronic RAC3 chr17 79990973 79990973 G - het . 10 +intergenic DCXR(dist=1342),RFNG(dist=8863) chr17 79996915 79996915 T C het . 3 +intronic DUS1L chr17 80018714 80018714 C T het . 17 +exonic FASN chr17 80038105 80038105 C A het . 19 +exonic FASN chr17 80046864 80046864 G A het . 20 +intronic CCDC57 chr17 80124454 80124454 T A het . 2 +exonic SLC16A3 chr17 80195582 80195582 T C het . 26 +UTR3 OGFOD3(NM_175902:c.*519C>T,NM_024648:c.*342C>T) chr17 80349932 80349932 G A het . 2 +intronic OGFOD3 chr17 80369433 80369433 G A het . 3 +intronic WDR45B chr17 80589026 80589026 C A het . 20 +exonic FN3KRP chr17 80674643 80674643 C G het . 2 +intronic FN3K chr17 80693705 80693705 A G het . 8 +intronic TBCD chr17 80755616 80755617 TT - het . 13 +UTR3 ZNF750(NM_024702:c.*146_*143delCAAA) chr17 80787872 80787875 TTTG - het . 3 +UTR5 ZNF750(NM_024702:c.-112A>C) chr17 80790442 80790442 T G het . 14 +UTR5 ZNF750(NM_024702:c.-132G>T) chr17 80790462 80790462 C A het . 13 +intronic TBCD chr17 80878389 80878389 A G het . 23 +intronic TBCD chr17 80878413 80878413 T - het . 18 +exonic THOC1 chr18 226895 226895 C A het . 17 +intronic THOC1 chr18 260109 260109 A - het . 13 +UTR3 COLEC12(NM_130386:c.*110A>G) chr18 319935 319935 T C het . 8 +intronic COLEC12 chr18 369385 369385 - T het . 2 +intronic COLEC12 chr18 425581 425581 T C het . 3 +intronic COLEC12 chr18 487604 487604 C T het . 3 +intergenic LINC01925(dist=6248),CETN1(dist=58800) chr18 521542 521543 TT - het . 3 +intergenic LINC01925(dist=26451),CETN1(dist=38598) chr18 541745 541745 C A het . 1 +intergenic LINC01925(dist=35478),CETN1(dist=29571) chr18 550772 550772 G A het . 1 +exonic CETN1 chr18 580575 580575 C A het . 25 +intronic CLUL1 chr18 613148 613148 T - het . 8 +UTR3 TYMSOS(NM_001012716:c.*119_*118delAA) chr18 649880 649881 TT - het . 17 +intronic TYMS chr18 662370 662370 T C het . 6 +intronic ENOSF1 chr18 674535 674535 T C het . 7 +intronic ENOSF1 chr18 682922 682922 - A het . 3 +intronic ENOSF1 chr18 692999 692999 G A het . 2 +exonic YES1 chr18 732931 732931 T C het . 28 +intronic YES1 chr18 751881 751881 A - het . 15 +intergenic YES1(dist=21545),ADCYAP1(dist=71072) chr18 833872 833872 G - het . 1 +intergenic YES1(dist=57322),ADCYAP1(dist=35295) chr18 869649 869649 T - het . 5 +intergenic YES1(dist=65167),ADCYAP1(dist=27450) chr18 877494 877494 - AAAAACC het . 2 +intergenic YES1(dist=67687),ADCYAP1(dist=24930) chr18 880014 880014 A T het . 1 +intergenic YES1(dist=70730),ADCYAP1(dist=21887) chr18 883057 883057 A C het . 5 +intergenic YES1(dist=72865),ADCYAP1(dist=19752) chr18 885192 885192 G T het . 2 +intronic ADCYAP1 chr18 905125 905125 A G het . 3 +intronic ADCYAP1 chr18 905537 905537 T C het . 8 +intergenic ADCYAP1(dist=11301),LINC01904(dist=2610) chr18 923474 923474 G A het . 2 +intergenic LINC01904(dist=42863),LINC00470(dist=297455) chr18 970857 970857 T G het . 2 +intergenic LINC01904(dist=140002),LINC00470(dist=200316) chr18 1067996 1067996 - T het . 2 +intergenic LINC00470(dist=96464),METTL4(dist=1081430) chr18 1456094 1456094 A G het . 2 +intergenic LINC00470(dist=187383),METTL4(dist=990511) chr18 1547013 1547013 C A het . 2 +intergenic LINC00470(dist=187403),METTL4(dist=990491) chr18 1547033 1547033 G T het . 2 +intergenic LINC00470(dist=199681),METTL4(dist=978213) chr18 1559311 1559311 C T het . 1 +intergenic LINC00470(dist=309909),METTL4(dist=867985) chr18 1669539 1669539 G C het . 4 +intergenic LINC00470(dist=382489),METTL4(dist=795405) chr18 1742119 1742119 A G het . 2 +intergenic LINC00470(dist=383991),METTL4(dist=793903) chr18 1743621 1743621 A G het . 2 +intergenic LINC00470(dist=574657),METTL4(dist=603237) chr18 1934287 1934287 T C het . 1 +intergenic LINC00470(dist=574668),METTL4(dist=603226) chr18 1934298 1934298 C G het . 2 +intergenic LINC00470(dist=611785),METTL4(dist=566109) chr18 1971415 1971415 T - het . 1 +intergenic LINC00470(dist=611796),METTL4(dist=566098) chr18 1971426 1971426 T A het . 2 +intergenic LINC00470(dist=611803),METTL4(dist=566091) chr18 1971433 1971433 T A het . 2 +intergenic LINC00470(dist=691987),METTL4(dist=485907) chr18 2051617 2051617 C T het . 1 +intergenic LINC00470(dist=837772),METTL4(dist=340122) chr18 2197402 2197402 - AAG het . 3 +intergenic LINC00470(dist=885912),METTL4(dist=291982) chr18 2245542 2245542 G C het . 2 +intergenic LINC00470(dist=894488),METTL4(dist=283406) chr18 2254118 2254118 C A het . 2 +intergenic LINC00470(dist=905415),METTL4(dist=272479) chr18 2265045 2265045 G T het . 1 +intergenic LINC00470(dist=941224),METTL4(dist=236670) chr18 2300854 2300854 T C het . 2 +intergenic LINC00470(dist=962051),METTL4(dist=215840) chr18 2321681 2321684 AAAG - het . 2 +intergenic LINC00470(dist=979984),METTL4(dist=197903) chr18 2339614 2339621 TTTGTTTG - het . 2 +intergenic LINC00470(dist=1080276),METTL4(dist=97618) chr18 2439906 2439906 T G het . 3 +intergenic LINC00470(dist=1093516),METTL4(dist=84378) chr18 2453146 2453146 G C het . 1 +intergenic LINC00470(dist=1150740),METTL4(dist=27154) chr18 2510370 2510370 T C het . 2 +intergenic LINC00470(dist=1160515),METTL4(dist=17379) chr18 2520145 2520145 C A het . 3 +intergenic LINC00470(dist=1160535),METTL4(dist=17359) chr18 2520165 2520165 A - het . 3 +intronic NDC80 chr18 2582054 2582057 TTTG - het . 5 +intronic NDC80 chr18 2584286 2584286 - A het . 2 +intronic NDC80 chr18 2593923 2593923 - CAA het . 13 +intronic NDC80 chr18 2593924 2593924 - AC het . 13 +intronic NDC80 chr18 2593925 2593925 G A het . 13 +intergenic NDC80(dist=25915),CBX3P2(dist=9620) chr18 2642549 2642549 T G het . 1 +intronic SMCHD1 chr18 2697315 2697315 T G het . 11 +intronic SMCHD1 chr18 2703454 2703454 T A het . 2 +intronic SMCHD1 chr18 2705633 2705633 T A het . 13 +intronic SMCHD1 chr18 2705675 2705675 T A het . 11 +intronic SMCHD1 chr18 2705812 2705812 C T het . 21 +intronic EMILIN2 chr18 2851206 2851206 C T het . 2 +intronic LPIN2 chr18 2927023 2927023 G T het . 3 +intronic LPIN2 chr18 2928545 2928545 C A het . 21 +intronic LPIN2 chr18 2943198 2943198 - TTTTG het . 1 +intronic LPIN2 chr18 2943201 2943201 C T het . 1 +intronic LPIN2 chr18 2951448 2951450 AAA - het . 13 +intronic LPIN2 chr18 2960513 2960513 A - het . 12 +intronic LPIN2 chr18 2960970 2960975 TATTAA - het . 22 +intronic LPIN2 chr18 2982439 2982439 G A het . 2 +intergenic LPIN2(dist=1870),MYOM1(dist=52990) chr18 3013815 3013815 C T het . 2 +intergenic LPIN2(dist=13096),MYOM1(dist=41764) chr18 3025041 3025041 A T het . 4 +intronic MYOM1 chr18 3075503 3075503 - AAA het . 38 +intronic MYOM1 chr18 3096450 3096450 - T het . 2 +intronic MYOM1 chr18 3120060 3120060 G A het . 10 +intronic MYOM1 chr18 3214668 3214668 G A het . 2 +intronic MYOM1 chr18 3214920 3214920 C A het . 3 +UTR5 MYOM1(NM_019856:c.-9G>A,NM_003803:c.-9G>A) chr18 3215230 3215230 C T het . 8 +intronic MYL12B chr18 3272798 3272799 AG TA het . 10 +intronic MYL12B chr18 3273153 3273153 C T het . 10 +intronic MYL12B chr18 3277691 3277691 A T het . 3 +intergenic MYL12B(dist=11606),LINC01895(dist=57813) chr18 3289888 3289888 G T het . 1 +intergenic MYL12B(dist=33453),LINC01895(dist=35966) chr18 3311735 3311735 C G het . 2 +intergenic MYL12B(dist=33466),LINC01895(dist=35953) chr18 3311748 3311748 G T het . 2 +intergenic LINC01895(dist=18413),TGIF1(dist=42955) chr18 3368970 3368970 T C het . 2 +intergenic LINC01895(dist=31636),TGIF1(dist=29732) chr18 3382193 3382193 C A het . 2 +intergenic LINC01895(dist=31660),TGIF1(dist=29708) chr18 3382217 3382217 T A het . 3 +exonic TGIF1 chr18 3452223 3452223 T - het . 14 +exonic TGIF1 chr18 3456531 3456531 C A het . 29 +ncRNA_intronic DLGAP1-AS2 chr18 3604390 3604390 C T het . 2 +intronic DLGAP1 chr18 3645837 3645837 G C het . 2 +intronic DLGAP1 chr18 3718384 3718384 C T het . 3 +intronic DLGAP1 chr18 3787375 3787375 C G het . 2 +intronic DLGAP1 chr18 3792471 3792471 A - het . 2 +intronic DLGAP1 chr18 3807349 3807349 G A het . 2 +intronic DLGAP1 chr18 3810952 3810952 C T het . 2 +exonic DLGAP1 chr18 3814236 3814236 C A het . 27 +intronic DLGAP1 chr18 3818842 3818842 C A het . 2 +intronic DLGAP1 chr18 3924292 3924292 A G het . 2 +intronic DLGAP1 chr18 3938439 3938439 A G het . 1 +ncRNA_intronic DLGAP1-AS4 chr18 4001072 4001072 A T het . 2 +intronic DLGAP1 chr18 4034010 4034010 G T het . 1 +intronic DLGAP1 chr18 4062632 4062632 C T het . 3 +intronic DLGAP1 chr18 4125708 4125708 C G het . 3 +intronic DLGAP1 chr18 4204328 4204328 C A het . 4 +intronic DLGAP1 chr18 4403791 4403791 T C het . 2 +intronic DLGAP1 chr18 4418864 4418864 A - het . 2 +intronic DLGAP1 chr18 4438479 4438479 T G het . 4 +intronic DLGAP1 chr18 4444930 4444930 C T het . 2 +intergenic DLGAP1(dist=254480),LINC01892(dist=371435) chr18 4709746 4709746 G A het . 5 +intergenic DLGAP1(dist=501480),LINC01892(dist=124435) chr18 4956746 4956746 C T het . 1 +intergenic AKAIN1(dist=28300),LINC00526(dist=10672) chr18 5226051 5226051 G A het . 5 +intergenic AKAIN1(dist=28316),LINC00526(dist=10652) chr18 5226067 5226071 AAAAG - het . 4 +intergenic AKAIN1(dist=35141),LINC00526(dist=3831) chr18 5232892 5232892 C A het . 13 +intergenic AKAIN1(dist=35428),LINC00526(dist=3544) chr18 5233179 5233179 C A het . 11 +intronic ZBTB14 chr18 5292208 5292208 A - het . 11 +intronic EPB41L3 chr18 5433463 5433463 C A het . 14 +intronic EPB41L3 chr18 5433722 5433722 C T het . 5 +intergenic MIR3976HG(dist=36845),MIR3976(dist=7949) chr18 5832745 5832745 C T het . 1 +UTR3 L3MBTL4(NM_001330559:c.*1406_*1407insGTT,NM_173464:c.*1406_*1407insGTT) chr18 5954812 5954812 - AAC het . 2 +intronic L3MBTL4 chr18 5962170 5962170 C G het . 1 +exonic L3MBTL4 chr18 6093385 6093385 C T het . 21 +intronic L3MBTL4 chr18 6301991 6301991 C A het . 26 +intronic L3MBTL4 chr18 6395138 6395138 T C het . 2 +intronic L3MBTL4 chr18 6395140 6395140 G T het . 2 +intergenic L3MBTL4(dist=24482),LINC01387(dist=72015) chr18 6439400 6439400 C A het . 3 +intergenic L3MBTL4(dist=57290),LINC01387(dist=39207) chr18 6472208 6472208 T - het . 4 +intergenic L3MBTL4(dist=70625),LINC01387(dist=25872) chr18 6485543 6485543 G A het . 3 +intergenic L3MBTL4(dist=70667),LINC01387(dist=25827) chr18 6485585 6485588 TTTT - het . 4 +ncRNA_intronic LINC01387 chr18 6576274 6576274 T C het . 4 +ncRNA_intronic LINC01387 chr18 6588929 6588929 A T het . 4 +intergenic LINC01387(dist=42106),LOC101927168(dist=96168) chr18 6632758 6632758 C T het . 2 +intergenic LINC01387(dist=80347),LOC101927168(dist=57927) chr18 6670999 6670999 G T het . 1 +intergenic LINC01387(dist=122838),LOC101927168(dist=15436) chr18 6713490 6713490 C G het . 2 +intergenic LINC01387(dist=122853),LOC101927168(dist=15421) chr18 6713505 6713505 C T het . 2 +intergenic LINC01387(dist=122864),LOC101927168(dist=15410) chr18 6713516 6713516 T A het . 2 +intergenic LOC101927168(dist=69425),ARHGAP28(dist=35146) chr18 6799286 6799286 G A het . 3 +intergenic LOC101927168(dist=95124),ARHGAP28(dist=9447) chr18 6824985 6824985 C T het . 7 +intronic ARHGAP28 chr18 6837446 6837446 G A het . 5 +intronic ARHGAP28 chr18 6873354 6873354 G A het . 15 +intronic ARHGAP28 chr18 6909273 6909273 G T het . 5 +intronic ARHGAP28 chr18 6909304 6909304 T C het . 8 +intronic ARHGAP28 chr18 6909323 6909323 G T het . 8 +intronic ARHGAP28 chr18 6911449 6911449 - TTTTT het . 3 +exonic LAMA1 chr18 6947273 6947273 C A het . 41 +exonic LAMA1 chr18 6949155 6949155 C A het . 30 +ncRNA_exonic LOC101927188 chr18 6956393 6956393 T C het . 6 +intronic LAMA1 chr18 6985506 6985507 TG CA het . 53 +exonic LAMA1 chr18 6997837 6997837 C A het . 33 +intronic LAMA1 chr18 6999822 6999822 C A het . 20 +intronic LAMA1 chr18 7015587 7015587 - T het . 6 +intronic LAMA1 chr18 7015609 7015609 C A het . 8 +intronic LAMA1 chr18 7080153 7080153 C A het . 34 +intergenic LAMA1(dist=19424),LRRC30(dist=93865) chr18 7137237 7137237 G T het . 4 +intergenic LAMA1(dist=58362),LRRC30(dist=54926) chr18 7176175 7176176 TT - het . 3 +intergenic LAMA1(dist=85899),LRRC30(dist=27390) chr18 7203712 7203712 T G het . 2 +intergenic LAMA1(dist=92396),LRRC30(dist=20893) chr18 7210209 7210209 - G het . 2 +intergenic LAMA1(dist=100273),LRRC30(dist=13016) chr18 7218086 7218086 C A het . 1 +intergenic LRRC30(dist=57497),LOC112577592(dist=166414) chr18 7289583 7289583 C A het . 3 +intergenic LRRC30(dist=113382),LOC112577592(dist=110529) chr18 7345468 7345468 A T het . 3 +intergenic LRRC30(dist=158415),LOC112577592(dist=65496) chr18 7390501 7390501 A G het . 2 +intergenic LRRC30(dist=208160),LOC112577592(dist=15751) chr18 7440246 7440246 T G het . 2 +intronic PTPRM chr18 7943051 7943051 A G het . 2 +intronic PTPRM chr18 8242631 8242631 A G het . 2 +intronic PTPRM chr18 8242648 8242648 G A het . 2 +intronic PTPRM chr18 8244282 8244282 - A het . 2 +intronic PTPRM chr18 8272222 8272222 G A het . 5 +intronic PTPRM chr18 8272226 8272226 G A het . 4 +intronic PTPRM chr18 8298813 8298813 C T het . 2 +intronic PTPRM chr18 8298871 8298871 A G het . 3 +intronic PTPRM chr18 8342915 8342915 T C het . 2 +intronic PTPRM chr18 8352625 8352625 C T het . 1 +intronic PTPRM chr18 8379095 8379095 G C het . 1 +intergenic RAB12(dist=14345),GACAT2(dist=42128) chr18 8653725 8653726 GG AA het . 3 +ncRNA_intronic GACAT2 chr18 8696968 8696968 G T het . 2 +intronic MTCL1 chr18 8732348 8732348 A G het . 2 +intronic MTCL1 chr18 8785778 8785778 G A het . 4 +intronic MTCL1 chr18 8786117 8786117 C A het . 5 +intronic MTCL1 chr18 8793236 8793236 T C het . 3 +intronic MTCL1 chr18 8821556 8821556 G T het . 18 +intergenic MTCL1(dist=1044),NDUFV2(dist=268809) chr18 8833819 8833819 A C het . 3 +intergenic MTCL1(dist=59418),NDUFV2(dist=210435) chr18 8892193 8892193 A G het . 1 +intergenic MTCL1(dist=152759),NDUFV2(dist=117094) chr18 8985534 8985534 G A het . 2 +intergenic MTCL1(dist=256166),NDUFV2(dist=13686) chr18 9088941 9088942 TT - het . 1 +ncRNA_intronic NDUFV2-AS1 chr18 9124800 9124800 T - het . 5 +intronic ANKRD12 chr18 9211914 9211914 C A het . 12 +intronic ANKRD12 chr18 9279688 9279688 - A het . 13 +intronic TWSG1 chr18 9364197 9364197 T C het . 1 +intergenic TWSG1(dist=18468),RALBP1(dist=54644) chr18 9420886 9420886 C T het . 2 +intergenic TWSG1(dist=29386),RALBP1(dist=43721) chr18 9431804 9431809 TTTTTT - het . 3 +intronic RALBP1 chr18 9484949 9484949 A T het . 1 +intronic RALBP1 chr18 9487668 9487668 T A het . 4 +exonic PPP4R1 chr18 9547947 9547947 T C het . 11 +intronic PPP4R1 chr18 9569269 9569269 C A het . 2 +intergenic PPP4R1-AS1(dist=2159),RAB31(dist=86708) chr18 9621520 9621520 G A het . 2 +intergenic PPP4R1-AS1(dist=58806),RAB31(dist=30059) chr18 9678167 9678169 TTT - het . 9 +intergenic PPP4R1-AS1(dist=58935),RAB31(dist=29932) chr18 9678296 9678296 T C het . 24 +intergenic PPP4R1-AS1(dist=61743),RAB31(dist=27124) chr18 9681104 9681104 T - het . 3 +intergenic PPP4R1-AS1(dist=61758),RAB31(dist=27109) chr18 9681119 9681119 G A het . 3 +intergenic PPP4R1-AS1(dist=61763),RAB31(dist=27104) chr18 9681124 9681124 A G het . 3 +intronic RAB31 chr18 9746045 9746045 G A het . 2 +intronic RAB31 chr18 9786043 9786043 - AGAA het . 3 +intronic RAB31 chr18 9808932 9808932 C T het . 2 +intronic RAB31 chr18 9809582 9809582 G T het . 2 +intergenic TXNDC2(dist=11692),VAPA(dist=14107) chr18 9899848 9899848 - T het . 3 +intergenic VAPA(dist=139163),LINC01254(dist=305949) chr18 10099181 10099181 - G het . 1 +intergenic VAPA(dist=182900),LINC01254(dist=262212) chr18 10142918 10142918 C A het . 2 +intergenic VAPA(dist=231583),LINC01254(dist=213529) chr18 10191601 10191601 T C het . 2 +intergenic VAPA(dist=377019),LINC01254(dist=68093) chr18 10337037 10337037 C T het . 2 +intergenic VAPA(dist=426696),LINC01254(dist=18416) chr18 10386714 10386714 C T het . 1 +intergenic LINC01254(dist=1718),APCDD1(dist=38540) chr18 10416085 10416085 C A het . 2 +intergenic APCDD1(dist=9500),NAPG(dist=27675) chr18 10498198 10498198 G A het . 1 +intronic NAPG chr18 10533797 10533797 - A het . 7 +intergenic LINC01887(dist=10912),LOC101927410(dist=24601) chr18 10637329 10637329 C A het . 4 +intronic PIEZO2 chr18 10677881 10677882 AA - het . 16 +intronic PIEZO2 chr18 10679887 10679887 G A het . 2 +intronic PIEZO2 chr18 10679907 10679907 G A het . 2 +intronic PIEZO2 chr18 10691109 10691109 C T het . 2 +intronic PIEZO2 chr18 10691192 10691192 T G het . 7 +exonic PIEZO2 chr18 10731428 10731428 C T het . 20 +intronic PIEZO2 chr18 10744108 10744108 G A het . 15 +intronic PIEZO2 chr18 10759935 10759935 A G het . 12 +intronic PIEZO2 chr18 10759961 10759961 G A het . 12 +intronic PIEZO2 chr18 10770113 10770113 T C het . 11 +exonic PIEZO2 chr18 10787047 10787047 G A het . 26 +intronic PIEZO2 chr18 10800228 10800228 T C het . 3 +exonic PIEZO2 chr18 10857048 10857048 C G het . 43 +intronic PIEZO2 chr18 10911761 10911761 A - het . 1 +intronic PIEZO2 chr18 10937798 10937798 C T het . 2 +intronic PIEZO2 chr18 11071947 11071947 T C het . 2 +intronic PIEZO2 chr18 11074136 11074136 T C het . 2 +intergenic PIEZO2(dist=88668),LINC01928(dist=217048) chr18 11237429 11237429 G A het . 2 +intergenic PIEZO2(dist=147179),LINC01928(dist=158537) chr18 11295940 11295940 A G het . 2 +intergenic PIEZO2(dist=162860),LINC01928(dist=142856) chr18 11311621 11311621 - G het . 3 +intergenic PIEZO2(dist=228931),LINC01928(dist=76785) chr18 11377692 11377692 G A het . 2 +intergenic LINC01255(dist=45540),SLC35G4(dist=57035) chr18 11552522 11552522 T C het . 2 +intergenic LINC01255(dist=61881),SLC35G4(dist=40694) chr18 11568863 11568863 T C het . 2 +exonic SLC35G4 chr18 11609903 11609904 CA GG het . 13 +exonic SLC35G4 chr18 11609978 11609978 C T het . 22 +exonic SLC35G4 chr18 11609981 11609981 T C het . 23 +exonic SLC35G4 chr18 11609994 11609994 C T het . 15 +exonic SLC35G4 chr18 11610001 11610001 A G het . 15 +intergenic SLC35G4(dist=8860),MIR7153(dist=35413) chr18 11619471 11619471 C T het . 14 +intergenic MIR7153(dist=30729),GNAL(dist=3345) chr18 11685669 11685669 C T het . 3 +intronic GNAL chr18 11824686 11824686 - A het . 5 +intronic GNAL chr18 11824693 11824693 - AAT het . 5 +intronic GNAL chr18 11824697 11824697 C T het . 5 +intronic GNAL chr18 11824700 11824700 - T het . 5 +intronic GNAL chr18 11824880 11824880 T A het . 8 +intronic GNAL chr18 11824886 11824886 T G het . 7 +intronic GNAL chr18 11838030 11838030 C T het . 2 +intronic GNAL chr18 11864707 11864707 A G het . 4 +intronic GNAL chr18 11870537 11870537 A T het . 2 +UTR3 GNAL(NM_182978:c.*3217C>A,NM_001142339:c.*3217C>A,NM_001261443:c.*3217C>A,NM_001261444:c.*3217C>A),MPPE1(NM_001319154:c.*93G>T,NM_001330563:c.*93G>T,NM_001242904:c.*93G>T,NM_023075:c.*93G>T) chr18 11884351 11884351 C A het . 8 +intergenic MPPE1(dist=4967),IMPA2(dist=67661) chr18 11913763 11913766 CTCA - het . 8 +intergenic MPPE1(dist=20062),IMPA2(dist=52569) chr18 11928858 11928858 A G het . 11 +intergenic MPPE1(dist=20240),IMPA2(dist=52391) chr18 11929036 11929036 - T het . 14 +intronic IMPA2 chr18 11999038 11999038 G A het . 20 +intergenic IMPA2(dist=36892),ANKRD62(dist=26071) chr18 12067777 12067777 T C het . 5 +intronic ANKRD62 chr18 12103479 12103479 G A het . 5 +intronic ANKRD62 chr18 12103490 12103490 A G het . 3 +intergenic ANKRD62(dist=15377),C18orf61(dist=55653) chr18 12145125 12145125 - GTGCT het . 3 +intergenic ANKRD62(dist=44459),C18orf61(dist=26571) chr18 12174207 12174207 C T het . 2 +intergenic ANKRD62(dist=62532),C18orf61(dist=8498) chr18 12192280 12192280 A G het . 2 +ncRNA_intronic C18orf61 chr18 12211820 12211820 T C het . 6 +intergenic C18orf61(dist=18286),CIDEA(dist=11323) chr18 12242995 12242995 G A het . 2 +exonic CIDEA chr18 12254828 12254828 C T het . 21 +intronic AFG3L2 chr18 12337643 12337645 CAG - het . 8 +intronic AFG3L2 chr18 12352952 12352952 - A het . 31 +intronic AFG3L2 chr18 12353178 12353178 A T het . 47 +intronic AFG3L2 chr18 12358503 12358503 G C het . 12 +intronic AFG3L2 chr18 12366839 12366839 C A het . 25 +intergenic AFG3L2(dist=28568),PRELID3A(dist=2048) chr18 12405843 12405847 AAAGA - het . 4 +intronic SPIRE1 chr18 12451026 12451028 GGA - het . 8 +intronic SPIRE1 chr18 12546603 12546603 G C het . 9 +intronic SPIRE1 chr18 12546609 12546609 A - het . 8 +intronic SPIRE1 chr18 12646765 12646765 C A het . 2 +intronic PSMG2 chr18 12664557 12664557 C A het . 1 +intronic CEP76,PSMG2 chr18 12676764 12676764 G A het . 1 +intronic CEP76,PSMG2 chr18 12694733 12694733 - G het . 3 +intronic PSMG2 chr18 12716948 12716948 T - het . 2 +intronic PSMG2 chr18 12718032 12718032 A C het . 3 +ncRNA_intronic LINC01882 chr18 12743176 12743176 C T het . 2 +ncRNA_intronic LINC01882 chr18 12746957 12746957 A - het . 5 +intergenic LINC01882(dist=34477),PTPN2(dist=1579) chr18 12783898 12783898 T C het . 1 +intergenic PTPN2(dist=56992),SEH1L(dist=6657) chr18 12941326 12941326 T - het . 3 +intronic SEH1L chr18 12963147 12963147 T - het . 8 +exonic SEH1L chr18 12963244 12963244 C A het . 32 +intronic SEH1L chr18 12979075 12979075 - T het . 8 +UTR3 SEH1L(NM_031216:c.*1551_*1552insT) chr18 12986802 12986802 - T het . 2 +intronic CEP192 chr18 13011531 13011531 T - het . 3 +intronic CEP192 chr18 13019237 13019237 A - het . 8 +exonic CEP192 chr18 13056682 13056682 G A het . 7 +exonic CEP192 chr18 13069095 13069095 A G het . 15 +intronic CEP192 chr18 13100294 13100294 C A het . 29 +intronic CEP192 chr18 13100538 13100538 C A het . 23 +intronic CEP192 chr18 13122580 13122580 A - het . 2 +intergenic CEP192(dist=61714),LDLRAD4(dist=31964) chr18 13186765 13186765 C T het . 2 +intronic LDLRAD4 chr18 13338413 13338413 - C het . 2 +intronic LDLRAD4 chr18 13476614 13476614 A C het . 2 +intronic LDLRAD4 chr18 13476623 13476623 A - het . 1 +intronic LDLRAD4 chr18 13487836 13487836 T G het . 3 +intronic LDLRAD4 chr18 13487861 13487861 G A het . 4 +intronic LDLRAD4 chr18 13496304 13496304 G A het . 4 +intronic LDLRAD4 chr18 13518091 13518091 T A het . 2 +intronic LDLRAD4 chr18 13573238 13573238 G A het . 3 +intronic LDLRAD4 chr18 13576460 13576460 T G het . 3 +intronic FAM210A chr18 13711363 13711363 A G het . 6 +intronic RNMT chr18 13736971 13736971 G T het . 14 +intronic RNMT chr18 13754754 13754754 C G het . 1 +intergenic RNMT(dist=26061),MC5R(dist=34927) chr18 13790616 13790616 A C het . 2 +intergenic MC5R(dist=5797),MC2R(dist=49385) chr18 13832658 13832658 C A het . 1 +intronic MC2R chr18 13891298 13891298 T C het . 2 +intronic MC2R chr18 13913116 13913116 G A het . 2 +intergenic MC2R(dist=12235),ZNF519(dist=172001) chr18 13927941 13927941 - A het . 2 +intergenic MC2R(dist=26094),ZNF519(dist=158142) chr18 13941800 13941800 G C het . 2 +intergenic MC2R(dist=31046),ZNF519(dist=153187) chr18 13946752 13946755 TTTC - het . 3 +intergenic MC2R(dist=31069),ZNF519(dist=153167) chr18 13946775 13946775 C T het . 2 +intergenic MC2R(dist=31073),ZNF519(dist=153163) chr18 13946779 13946779 A G het . 2 +intergenic MC2R(dist=35987),ZNF519(dist=148249) chr18 13951693 13951693 G T het . 1 +intergenic MC2R(dist=51540),ZNF519(dist=132696) chr18 13967246 13967246 - A het . 4 +intergenic MC2R(dist=59281),ZNF519(dist=124955) chr18 13974987 13974987 A C het . 2 +intergenic MC2R(dist=139038),ZNF519(dist=45198) chr18 14054744 14054744 A G het . 2 +intergenic ZNF519(dist=15037),ANKRD20A5P(dist=31570) chr18 14147526 14147526 A G het . 8 +ncRNA_intronic CYP4F35P chr18 14339094 14339094 T C het . 2 +intergenic CYP4F35P(dist=40931),CXADRP3(dist=94500) chr18 14383454 14383454 - CAGC het . 2 +intergenic CYP4F35P(dist=109614),CXADRP3(dist=25817) chr18 14452137 14452137 C T het . 3 +ncRNA_exonic CXADRP3 chr18 14478280 14478280 T G het . 3 +intronic POTEC chr18 14513529 14513529 - AT het . 9 +intronic POTEC chr18 14541461 14541461 G A het . 2 +intergenic POTEC(dist=96716),ANKRD30B(dist=107920) chr18 14640315 14640319 TTATC - het . 4 +intergenic POTEC(dist=128977),ANKRD30B(dist=75663) chr18 14672576 14672576 - CTGCTT het . 2 +intergenic POTEC(dist=185716),ANKRD30B(dist=18924) chr18 14729315 14729315 C T het . 2 +intergenic POTEC(dist=192085),ANKRD30B(dist=12555) chr18 14735684 14735684 A G het . 2 +intergenic POTEC(dist=201781),ANKRD30B(dist=2859) chr18 14745380 14745380 G A het . 3 +intronic ANKRD30B chr18 14751693 14751693 A T het . 1 +exonic ANKRD30B chr18 14763776 14763776 C G het . 75 +intronic ANKRD30B chr18 14798916 14798916 C T het . 17 +intronic ANKRD30B chr18 14831181 14831182 AA - het . 4 +intronic ANKRD30B chr18 14831257 14831257 A C het . 29 +UTR3 ANKRD30B(NM_001145029:c.*18_*21delATAT) chr18 14852497 14852500 ATAT - het . 16 +intergenic ANKRD30B(dist=35989),LINC01443(dist=57540) chr18 14888726 14888726 C A het . 10 +intergenic LINC01443(dist=6493),LOC644669(dist=333307) chr18 14980248 14980248 G T het . 2 +intergenic LINC01443(dist=18084),LOC644669(dist=321716) chr18 14991839 14991839 C T het . 2 +intergenic LINC01443(dist=25457),LOC644669(dist=314343) chr18 14999212 14999212 G T het . 34 +intergenic LINC01443(dist=25945),LOC644669(dist=313855) chr18 14999700 14999700 G T het . 24 +intergenic LINC01443(dist=38341),LOC644669(dist=301459) chr18 15012096 15012096 T A het . 3 +intergenic LINC01443(dist=178680),LOC644669(dist=161120) chr18 15152435 15152435 T - het . 2 +intergenic LINC01443(dist=191022),LOC644669(dist=148778) chr18 15164777 15164777 T A het . 9 +intergenic LINC01443(dist=191068),LOC644669(dist=148732) chr18 15164823 15164823 T C het . 4 +intergenic LINC01443(dist=191342),LOC644669(dist=148458) chr18 15165097 15165097 A T het . 2 +intergenic LINC01443(dist=220728),LOC644669(dist=119068) chr18 15194483 15194487 TTCAT - het . 2 +intergenic LINC01443(dist=224642),LOC644669(dist=115158) chr18 15198397 15198397 A - het . 2 +intergenic LINC01443(dist=234657),LOC644669(dist=105143) chr18 15208412 15208412 G T het . 5 +intergenic LINC01443(dist=289362),LOC644669(dist=50438) chr18 15263117 15263117 A G het . 2 +intergenic LINC01443(dist=307709),LOC644669(dist=32091) chr18 15281464 15281464 A - het . 2 +intergenic LINC01443(dist=318975),LOC644669(dist=20825) chr18 15292730 15292730 G T het . 3 +intergenic LOC644669(dist=69758),NONE(dist=NONE) chr18 15395676 15395676 G C het . 2 +intergenic LOC644669(dist=78718),NONE(dist=NONE) chr18 15404636 15404636 A G het . 3 +intergenic LOC644669(dist=82606),NONE(dist=NONE) chr18 15408524 15408524 T A het . 3 +intergenic NONE(dist=NONE),ROCK1(dist=18610) chr18 18511093 18511093 C T het . 7 +intergenic NONE(dist=NONE),ROCK1(dist=18608) chr18 18511095 18511095 T A het . 7 +intergenic NONE(dist=NONE),ROCK1(dist=18603) chr18 18511100 18511100 A C het . 7 +intergenic NONE(dist=NONE),ROCK1(dist=18588) chr18 18511115 18511115 A T het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=18587) chr18 18511116 18511116 G A het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=18584) chr18 18511119 18511119 A C het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=17727) chr18 18511976 18511976 A C het . 4 +intergenic NONE(dist=NONE),ROCK1(dist=17690) chr18 18512013 18512013 T G het . 3 +intergenic NONE(dist=NONE),ROCK1(dist=17653) chr18 18512050 18512050 T C het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=17647) chr18 18512056 18512056 C T het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=17629) chr18 18512074 18512074 A G het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=17618) chr18 18512085 18512085 G T het . 2 +intergenic NONE(dist=NONE),ROCK1(dist=17614) chr18 18512089 18512089 T G het . 1 +intergenic NONE(dist=NONE),ROCK1(dist=17547) chr18 18512156 18512156 G T het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=17529) chr18 18512174 18512174 G A het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=17517) chr18 18512186 18512186 A G het . 3 +intergenic NONE(dist=NONE),ROCK1(dist=17495) chr18 18512208 18512208 G A het . 4 +intergenic NONE(dist=NONE),ROCK1(dist=17443) chr18 18512260 18512260 A T het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=17295) chr18 18512408 18512408 G C het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=17291) chr18 18512412 18512412 T A het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=17264) chr18 18512439 18512439 T C het . 2 +intergenic NONE(dist=NONE),ROCK1(dist=17259) chr18 18512444 18512444 A G het . 2 +intergenic NONE(dist=NONE),ROCK1(dist=17208) chr18 18512495 18512495 A - het . 2 +intergenic NONE(dist=NONE),ROCK1(dist=17206) chr18 18512497 18512497 T C het . 2 +intergenic NONE(dist=NONE),ROCK1(dist=16842) chr18 18512861 18512861 A C het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=16833) chr18 18512870 18512870 C G het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=16825) chr18 18512878 18512878 C G het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=16817) chr18 18512886 18512886 A G het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=16466) chr18 18513237 18513237 - TG het . 12 +intergenic NONE(dist=NONE),ROCK1(dist=16461) chr18 18513242 18513242 T - het . 12 +intergenic NONE(dist=NONE),ROCK1(dist=16453) chr18 18513250 18513250 T A het . 12 +intergenic NONE(dist=NONE),ROCK1(dist=16438) chr18 18513264 18513265 AG GA het . 12 +intergenic NONE(dist=NONE),ROCK1(dist=16429) chr18 18513274 18513274 T C het . 11 +intergenic NONE(dist=NONE),ROCK1(dist=14751) chr18 18514952 18514952 A C het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=14731) chr18 18514972 18514972 C G het . 3 +intergenic NONE(dist=NONE),ROCK1(dist=14722) chr18 18514980 18514981 CG TC het . 2 +intergenic NONE(dist=NONE),ROCK1(dist=14683) chr18 18515020 18515020 C A het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=14035) chr18 18515668 18515668 T C het . 1 +intergenic NONE(dist=NONE),ROCK1(dist=14032) chr18 18515670 18515671 AA TT het . 1 +intergenic NONE(dist=NONE),ROCK1(dist=13991) chr18 18515712 18515712 A G het . 1 +intergenic NONE(dist=NONE),ROCK1(dist=13986) chr18 18515717 18515717 G A het . 1 +intergenic NONE(dist=NONE),ROCK1(dist=13887) chr18 18515816 18515816 C G het . 8 +intergenic NONE(dist=NONE),ROCK1(dist=13858) chr18 18515845 18515845 C A het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=13855) chr18 18515848 18515848 A G het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=13823) chr18 18515880 18515880 A T het . 3 +intergenic NONE(dist=NONE),ROCK1(dist=12573) chr18 18517130 18517130 G C het . 9 +intergenic NONE(dist=NONE),ROCK1(dist=12552) chr18 18517151 18517151 A C het . 22 +intergenic NONE(dist=NONE),ROCK1(dist=12549) chr18 18517154 18517154 A G het . 22 +intergenic NONE(dist=NONE),ROCK1(dist=12526) chr18 18517177 18517177 G A het . 22 +intergenic NONE(dist=NONE),ROCK1(dist=12088) chr18 18517615 18517615 C A het . 3 +intergenic NONE(dist=NONE),ROCK1(dist=12085) chr18 18517618 18517618 T A het . 3 +intergenic NONE(dist=NONE),ROCK1(dist=12078) chr18 18517625 18517625 C G het . 3 +intergenic NONE(dist=NONE),ROCK1(dist=10806) chr18 18518897 18518897 A G het . 9 +intergenic NONE(dist=NONE),ROCK1(dist=10795) chr18 18518908 18518908 A G het . 9 +intergenic NONE(dist=NONE),ROCK1(dist=10791) chr18 18518912 18518912 C A het . 9 +intergenic NONE(dist=NONE),ROCK1(dist=10195) chr18 18519508 18519508 C A het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=10186) chr18 18519517 18519517 A C het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=10174) chr18 18519529 18519529 G A het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=10172) chr18 18519531 18519531 G T het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=10150) chr18 18519553 18519553 T G het . 7 +intergenic NONE(dist=NONE),ROCK1(dist=10145) chr18 18519558 18519558 A T het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=9972) chr18 18519731 18519731 A G het . 1 +intergenic NONE(dist=NONE),ROCK1(dist=9956) chr18 18519747 18519747 T C het . 1 +intergenic NONE(dist=NONE),ROCK1(dist=9570) chr18 18520133 18520133 G A het . 12 +intergenic NONE(dist=NONE),ROCK1(dist=9566) chr18 18520137 18520137 G T het . 11 +intergenic NONE(dist=NONE),ROCK1(dist=9522) chr18 18520181 18520181 T G het . 10 +intergenic NONE(dist=NONE),ROCK1(dist=9503) chr18 18520200 18520200 G C het . 9 +intergenic NONE(dist=NONE),ROCK1(dist=9476) chr18 18520227 18520227 G C het . 6 +intergenic NONE(dist=NONE),ROCK1(dist=9468) chr18 18520234 18520235 TT GC het . 4 +intergenic NONE(dist=NONE),ROCK1(dist=9449) chr18 18520254 18520254 T G het . 3 +intergenic NONE(dist=NONE),ROCK1(dist=9447) chr18 18520256 18520256 C T het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=9440) chr18 18520263 18520263 A G het . 5 +intergenic NONE(dist=NONE),ROCK1(dist=9404) chr18 18520299 18520299 C G het . 7 +intergenic NONE(dist=NONE),ROCK1(dist=9402) chr18 18520301 18520301 A G het . 7 +intergenic NONE(dist=NONE),ROCK1(dist=9392) chr18 18520311 18520311 T G het . 7 +intergenic NONE(dist=NONE),ROCK1(dist=9387) chr18 18520316 18520316 C G het . 7 +intergenic NONE(dist=NONE),ROCK1(dist=9370) chr18 18520333 18520333 A C het . 4 +intronic ROCK1 chr18 18588235 18588235 C A het . 4 +intronic ROCK1 chr18 18588245 18588245 G T het . 4 +intronic ROCK1 chr18 18621273 18621273 A G het . 3 +intronic ROCK1 chr18 18651837 18651837 G A het . 1 +intronic ROCK1 chr18 18664216 18664216 - A het . 2 +intronic ROCK1 chr18 18674543 18674543 - A het . 2 +intergenic ROCK1(dist=3421),GREB1L(dist=126970) chr18 18695233 18695233 T A het . 4 +intergenic ROCK1(dist=113577),GREB1L(dist=16814) chr18 18805389 18805389 - T het . 3 +intronic GREB1L chr18 18980909 18980909 A G het . 4 +exonic GREB1L chr18 18981152 18981152 C T het . 35 +intronic GREB1L chr18 19002907 19002907 C T het . 1 +intronic GREB1L chr18 19014015 19014015 - A het . 3 +intronic GREB1L chr18 19051582 19051594 TTTTTTTTTTTTT - het . 3 +intronic GREB1L chr18 19094226 19094226 C T het . 1 +exonic GREB1L chr18 19100758 19100758 - TCT het . 13 +intronic ESCO1 chr18 19119801 19119801 C T het . 23 +intronic ESCO1 chr18 19119814 19119814 A - het . 19 +intronic ESCO1 chr18 19119975 19119976 AT - het . 29 +intronic ESCO1 chr18 19149538 19149538 C A het . 2 +intronic ESCO1 chr18 19158097 19158097 A G het . 1 +intronic ESCO1 chr18 19165050 19165050 C T het . 1 +intronic SNRPD1 chr18 19202891 19202891 T - het . 6 +intergenic SNRPD1(dist=13977),ABHD3(dist=6675) chr18 19224183 19224183 A G het . 3 +intergenic SNRPD1(dist=13984),ABHD3(dist=6668) chr18 19224190 19224190 C T het . 3 +intronic ABHD3 chr18 19263741 19263741 C A het . 24 +intronic MIB1 chr18 19359313 19359313 A G het . 4 +intronic MIB1 chr18 19385693 19385693 - A het . 2 +intronic MIB1 chr18 19417649 19417649 A G het . 2 +intronic MIB1 chr18 19436397 19436397 G A het . 3 +intergenic MIB1(dist=19105),GATA6-AS1(dist=276836) chr18 19470023 19470023 - AAAC het . 8 +intergenic MIB1(dist=51424),GATA6-AS1(dist=244517) chr18 19502342 19502342 T C het . 2 +intergenic MIB1(dist=78189),GATA6-AS1(dist=217752) chr18 19529107 19529107 - ACAAACAA het . 7 +intergenic MIB1(dist=271586),GATA6-AS1(dist=24355) chr18 19722504 19722504 C A het . 5 +intergenic CTAGE1(dist=41850),LOC101927571(dist=263726) chr18 20039728 20039728 T C het . 2 +intergenic CTAGE1(dist=95887),LOC101927571(dist=209689) chr18 20093765 20093765 A G het . 2 +intergenic CTAGE1(dist=95918),LOC101927571(dist=209658) chr18 20093796 20093796 T C het . 2 +intergenic CTAGE1(dist=220432),LOC101927571(dist=85144) chr18 20218310 20218310 A G het . 3 +ncRNA_intronic LOC101927571 chr18 20350444 20350444 C T het . 2 +intergenic LOC101927571(dist=31579),RBBP8(dist=114916) chr18 20398379 20398379 T - het . 2 +intergenic LOC101927571(dist=72299),RBBP8(dist=74196) chr18 20439099 20439099 C T het . 1 +intergenic LOC101927571(dist=116527),RBBP8(dist=29968) chr18 20483327 20483327 C T het . 5 +intronic RBBP8 chr18 20562151 20562151 G A het . 26 +intronic RBBP8 chr18 20564801 20564803 TCA - het . 27 +intronic RBBP8 chr18 20573961 20573961 C T het . 4 +intronic RBBP8 chr18 20592773 20592773 A G het . 8 +intronic RBBP8 chr18 20598341 20598341 T C het . 3 +intergenic RBBP8(dist=4052),CABLES1(dist=104027) chr18 20610501 20610501 C A het . 1 +intergenic RBBP8(dist=4644),CABLES1(dist=103435) chr18 20611093 20611093 A G het . 2 +intergenic RBBP8(dist=19132),CABLES1(dist=88947) chr18 20625581 20625581 A - het . 2 +intergenic RBBP8(dist=44600),CABLES1(dist=63479) chr18 20651049 20651049 C T het . 3 +intergenic RBBP8(dist=71700),CABLES1(dist=36379) chr18 20678149 20678149 - C het . 6 +intergenic RBBP8(dist=89548),CABLES1(dist=18531) chr18 20695997 20695997 T C het . 2 +intronic TMEM241 chr18 20889850 20889850 C A het . 15 +intronic TMEM241 chr18 20931398 20931399 AA - het . 2 +intronic TMEM241 chr18 20964769 20964769 A G het . 3 +intronic TMEM241 chr18 21010323 21010323 A C het . 3 +intronic TMEM241 chr18 21013544 21013544 C G het . 1 +intronic TMEM241 chr18 21015119 21015119 C G het . 2 +intronic RMC1 chr18 21099583 21099583 C T het . 2 +intronic RMC1 chr18 21107628 21107628 - TATTGTATTTCT het . 9 +intronic NPC1 chr18 21120382 21120383 AA - het . 14 +intronic NPC1 chr18 21123382 21123382 C A het . 21 +intronic NPC1 chr18 21124907 21124907 - C het . 6 +exonic NPC1 chr18 21124945 21124945 C G het . 15 +intronic NPC1 chr18 21143168 21143168 C A het . 1 +intronic NPC1 chr18 21143183 21143183 C T het . 2 +intergenic ANKRD29(dist=9449),LAMA3(dist=17109) chr18 21252298 21252298 C A het . 21 +intronic LAMA3 chr18 21422555 21422556 TC - het . 43 +intronic LAMA3 chr18 21434965 21434968 AAAT - het . 2 +intronic LAMA3 chr18 21481340 21481340 A G het . 20 +intronic LAMA3 chr18 21496826 21496826 G T het . 5 +intronic LAMA3 chr18 21496966 21496966 T - het . 2 +intronic LAMA3 chr18 21508043 21508043 C A het . 28 +intronic LAMA3 chr18 21518636 21518636 C T het . 2 +intronic LAMA3 chr18 21529722 21529722 G A het . 31 +intronic LAMA3 chr18 21533290 21533290 T - het . 2 +intronic OSBPL1A chr18 21750551 21750551 T C het . 4 +intronic OSBPL1A chr18 21810373 21810373 T C het . 3 +intronic OSBPL1A chr18 21836581 21836581 C T het . 1 +intergenic OSBPL1A(dist=19317),IMPACT(dist=9459) chr18 21997150 21997150 T C het . 3 +intronic IMPACT chr18 22022978 22022978 C A het . 17 +downstream IMPACT(dist=657) chr18 22034151 22034151 - AA het . 2 +exonic HRH4 chr18 22056849 22056849 C A het . 46 +exonic HRH4 chr18 22057003 22057003 C A het . 38 +intergenic HRH4(dist=1317),LINC01915(dist=146908) chr18 22061238 22061238 A G het . 3 +intergenic HRH4(dist=110228),LINC01915(dist=37997) chr18 22170149 22170149 T C het . 2 +intergenic HRH4(dist=124564),LINC01915(dist=23661) chr18 22184485 22184485 G T het . 4 +intergenic LINC01915(dist=45341),LOC105372028(dist=18242) chr18 22287503 22287503 A G het . 2 +intergenic LINC01915(dist=47349),LOC105372028(dist=16234) chr18 22289511 22289511 G A het . 2 +intergenic LOC105372028(dist=3404),LINC01894(dist=162725) chr18 22350013 22350013 C A het . 1 +intergenic LOC105372028(dist=4088),LINC01894(dist=162041) chr18 22350697 22350697 C T het . 1 +intergenic LOC105372028(dist=40422),LINC01894(dist=125707) chr18 22387031 22387031 A G het . 2 +intergenic LOC105372028(dist=56389),LINC01894(dist=109740) chr18 22402998 22402998 A - het . 3 +intergenic LOC105372028(dist=59324),LINC01894(dist=106805) chr18 22405933 22405933 C T het . 2 +intergenic LOC105372028(dist=72213),LINC01894(dist=93914) chr18 22418822 22418824 TTA - het . 1 +intergenic LOC105372028(dist=84377),LINC01894(dist=81752) chr18 22430986 22430986 C T het . 1 +intergenic LOC105372028(dist=100802),LINC01894(dist=65327) chr18 22447411 22447411 T C het . 3 +intergenic LOC105372028(dist=149985),LINC01894(dist=16143) chr18 22496594 22496595 AT - het . 4 +intergenic LOC105372028(dist=151011),LINC01894(dist=15118) chr18 22497620 22497620 - A het . 2 +intergenic LOC105372028(dist=153952),LINC01894(dist=12177) chr18 22500561 22500561 - AT het . 3 +ncRNA_intronic LINC01894 chr18 22524876 22524876 T - het . 2 +ncRNA_intronic LINC01894 chr18 22524896 22524896 T A het . 3 +ncRNA_intronic LINC01894 chr18 22537315 22537321 AAAAAAC - het . 4 +ncRNA_intronic LINC01894 chr18 22537348 22537348 A C het . 3 +intronic ZNF521 chr18 22668183 22668183 - T het . 2 +exonic ZNF521 chr18 22672024 22672024 C A het . 42 +intronic ZNF521 chr18 22680481 22680481 T - het . 3 +intronic ZNF521 chr18 22730392 22730392 A G het . 1 +intronic ZNF521 chr18 22766068 22766068 T C het . 1 +intronic ZNF521 chr18 22899560 22899560 A - het . 2 +intronic ZNF521 chr18 22912574 22912574 C T het . 2 +intronic ZNF521 chr18 22916677 22916677 A C het . 2 +intronic ZNF521 chr18 22922398 22922398 - G het . 3 +intronic ZNF521 chr18 22922399 22922399 - TTG het . 3 +intronic ZNF521 chr18 22931233 22931233 A T het . 2 +intronic ZNF521 chr18 22931490 22931490 T G het . 3 +intronic ZNF521 chr18 22931508 22931508 G A het . 3 +intronic ZNF521 chr18 22931849 22931849 C T het . 8 +intergenic ZNF521(dist=80807),SS18(dist=583196) chr18 23013021 23013021 C T het . 3 +intergenic ZNF521(dist=94640),SS18(dist=569363) chr18 23026854 23026854 T - het . 3 +intergenic ZNF521(dist=140077),SS18(dist=523926) chr18 23072291 23072291 T - het . 3 +intergenic ZNF521(dist=157496),SS18(dist=506507) chr18 23089710 23089710 C T het . 1 +intergenic ZNF521(dist=198114),SS18(dist=465889) chr18 23130328 23130328 T A het . 2 +intergenic ZNF521(dist=205545),SS18(dist=458458) chr18 23137759 23137759 G C het . 1 +intergenic ZNF521(dist=253239),SS18(dist=410764) chr18 23185453 23185453 A G het . 3 +intergenic ZNF521(dist=255751),SS18(dist=408252) chr18 23187965 23187965 - T het . 3 +intergenic ZNF521(dist=395583),SS18(dist=268419) chr18 23327797 23327798 AA - het . 2 +intergenic ZNF521(dist=511799),SS18(dist=152204) chr18 23444013 23444013 T C het . 1 +intergenic ZNF521(dist=567443),SS18(dist=96560) chr18 23499657 23499657 G A het . 2 +intronic SS18 chr18 23608209 23608209 A G het . 2 +intronic SS18 chr18 23608231 23608231 A G het . 2 +intronic SS18 chr18 23619597 23619597 G C het . 2 +intronic PSMA8 chr18 23759258 23759258 G T het . 2 +intronic PSMA8 chr18 23759261 23759261 T - het . 2 +intronic PSMA8 chr18 23772224 23772224 - TAAA het . 8 +intronic KCTD1 chr18 24179683 24179683 C A het . 17 +intronic CHST9 chr18 24532012 24532012 G A het . 1 +intronic CHST9 chr18 24630689 24630689 T C het . 1 +intergenic LOC105372038(dist=26740),CDH2(dist=581567) chr18 24949360 24949360 G A het . 3 +intergenic LOC105372038(dist=564585),CDH2(dist=43722) chr18 25487205 25487205 G A het . 2 +intergenic LOC105372038(dist=570058),CDH2(dist=38249) chr18 25492678 25492678 C T het . 2 +intronic CDH2 chr18 25541278 25541278 G T het . 2 +intronic CDH2 chr18 25541288 25541288 T G het . 2 +UTR5 CDH2(NM_001792:c.-62T>G) chr18 25757048 25757048 A C het . 4 +intergenic CDH2(dist=622490),MIR302F(dist=1498976) chr18 26379900 26379900 T G het . 2 +intergenic CDH2(dist=800846),MIR302F(dist=1320620) chr18 26558256 26558256 A T het . 2 +intergenic CDH2(dist=888209),MIR302F(dist=1233257) chr18 26645619 26645619 C T het . 1 +intergenic CDH2(dist=891770),MIR302F(dist=1229696) chr18 26649180 26649180 A G het . 2 +intergenic CDH2(dist=933588),MIR302F(dist=1187878) chr18 26690998 26690998 G A het . 2 +intergenic CDH2(dist=1114703),MIR302F(dist=1006763) chr18 26872113 26872113 C T het . 7 +intergenic CDH2(dist=1204866),MIR302F(dist=916600) chr18 26962276 26962276 G C het . 3 +intergenic CDH2(dist=1236215),MIR302F(dist=885251) chr18 26993625 26993625 G A het . 2 +intergenic CDH2(dist=1280299),MIR302F(dist=841167) chr18 27037709 27037709 A G het . 2 +intergenic CDH2(dist=1615491),MIR302F(dist=505975) chr18 27372901 27372901 G A het . 3 +intergenic CDH2(dist=1963575),MIR302F(dist=157891) chr18 27720985 27720985 - A het . 5 +intergenic CDH2(dist=2015799),MIR302F(dist=105667) chr18 27773209 27773209 A T het . 2 +intergenic MIR302F(dist=50954),DSC3(dist=639451) chr18 27929880 27929880 C T het . 3 +intergenic MIR302F(dist=109625),DSC3(dist=580780) chr18 27988551 27988551 T A het . 2 +intergenic MIR302F(dist=472782),DSC3(dist=217623) chr18 28351708 28351708 T G het . 2 +intergenic MIR302F(dist=472812),DSC3(dist=217593) chr18 28351738 28351738 T G het . 2 +exonic DSC3 chr18 28574247 28574247 C A het . 34 +intronic DSC3 chr18 28598853 28598853 C A het . 21 +intronic DSC3 chr18 28598867 28598868 TG - het . 11 +intronic DSC3 chr18 28610887 28610887 A G het . 22 +intronic DSC3 chr18 28610901 28610901 - A het . 23 +intronic DSC2 chr18 28671382 28671382 A - het . 7 +ncRNA_intronic DSCAS chr18 28696730 28696730 A G het . 1 +intergenic DSC1(dist=116796),DSG1(dist=38437) chr18 28859615 28859615 G T het . 2 +intronic DSG1 chr18 28918205 28918205 C - het . 28 +ncRNA_intronic DSG1-AS1 chr18 28968580 28968580 A C het . 16 +ncRNA_intronic DSG1-AS1 chr18 28971981 28971981 G T het . 10 +exonic DSG4 chr18 28979301 28979301 C A het . 35 +ncRNA_intronic DSG1-AS1 chr18 28985981 28985981 A C het . 11 +exonic DSG3 chr18 29044306 29044306 C A het . 14 +intronic DSG2 chr18 29104204 29104204 G A het . 5 +exonic DSG2 chr18 29126153 29126153 C A het . 18 +intronic B4GALT6 chr18 29238077 29238078 AA - het . 8 +intergenic B4GALT6(dist=13943),SLC25A52(dist=61030) chr18 29278629 29278629 A C het . 2 +exonic SLC25A52 chr18 29340288 29340288 C A het . 25 +intronic TRAPPC8 chr18 29493616 29493616 A G het . 3 +intronic TRAPPC8 chr18 29515417 29515417 G T het . 3 +intronic RNF138 chr18 29708981 29708981 G A het . 9 +intronic MEP1B chr18 29796832 29796832 A - het . 7 +intergenic WBP11P1(dist=70247),KLHL14(dist=87792) chr18 30164844 30164844 A - het . 2 +intergenic WBP11P1(dist=107637),KLHL14(dist=50402) chr18 30202234 30202234 G A het . 2 +intronic KLHL14 chr18 30323166 30323167 GG TC het . 2 +intronic CCDC178 chr18 30597879 30597879 - A het . 2 +intronic CCDC178 chr18 30672631 30672631 G A het . 11 +intronic CCDC178 chr18 30950168 30950168 T C het . 2 +intronic ASXL3 chr18 31225030 31225030 G T het . 3 +intronic ASXL3 chr18 31226058 31226058 T C het . 3 +intronic ASXL3 chr18 31241497 31241497 C G het . 10 +exonic ASXL3 chr18 31323465 31323465 C A het . 10 +exonic ASXL3 chr18 31324051 31324051 C T het . 28 +intergenic ASXL3(dist=6459),NOL4(dist=93447) chr18 31337617 31337617 G T het . 2 +intronic DTNA chr18 32405028 32405028 T - het . 5 +intronic DTNA chr18 32428164 32428164 C A het . 10 +exonic ZNF397,ZSCAN30 chr18 32834338 32834338 C A het . 32 +exonic ZSCAN30 chr18 32844253 32844253 C A het . 22 +UTR3 ZNF396(NM_001322286:c.*732_*733insTAAATAAA,NM_001322290:c.*732_*733insTAAATAAA) chr18 32948446 32948446 - TTTATTTA het . 5 +UTR3 INO80C(NM_001098817:c.*162delT,NM_194281:c.*162delT,NM_001308064:c.*162delT) chr18 33048413 33048413 A - het . 6 +intergenic GALNT1(dist=41363),MIR187(dist=151620) chr18 33333161 33333161 A G het . 5 +intergenic GALNT1(dist=170638),MIR187(dist=22345) chr18 33462436 33462436 C T het . 4 +intronic RPRD1A chr18 33611063 33611065 AAA - het . 8 +intronic SLC39A6 chr18 33696772 33696772 A C het . 17 +exonic SLC39A6 chr18 33706614 33706614 C G het . 18 +upstream ELP2,SLC39A6(dist=75) chr18 33709762 33709762 G C het . 4 +intronic ELP2 chr18 33710170 33710170 C T het . 6 +intronic ELP2 chr18 33716100 33716103 TGTA - het . 4 +intronic ELP2 chr18 33716103 33716103 A G het . 5 +intronic ELP2 chr18 33721020 33721020 C A het . 11 +intronic ELP2 chr18 33743234 33743235 GG - het . 2 +intronic ELP2 chr18 33750275 33750275 T - het . 6 +UTR3 MOCOS(NM_017947:c.*15_*16insTACAT) chr18 33848663 33848663 - TACAT het . 28 +intronic FHOD3 chr18 34082249 34082250 AT - het . 3 +intronic FHOD3 chr18 34112485 34112485 A C het . 2 +intronic FHOD3 chr18 34229142 34229142 - T het . 6 +intronic FHOD3 chr18 34324190 34324190 C T het . 2 +intronic KIAA1328 chr18 34612604 34612604 A G het . 4 +intronic CELF4 chr18 34909083 34909083 C - het . 3 +intronic CELF4 chr18 34932584 34932584 G A het . 2 +intronic CELF4 chr18 34933660 34933660 C T het . 2 +UTR5 CELF4(NM_001353709:c.-57_-56insCGAG,NM_020180:c.-57_-56insCGAG,NM_001353737:c.-57_-56insCGAG,NM_001353734:c.-57_-56insCGAG,NM_001353728:c.-57_-56insCGAG,NM_001353711:c.-57_-56insCGAG,NM_001353741:c.-57_-56insCGAG,NM_001353708:c.-57_-56insCGAG,NM_001353707:c.-57_-56insCGAG,NM_001353696:c.-57_-56insCGAG,NM_001353695:c.-57_-56insCGAG,NM_001353705:c.-57_-56insCGAG,NM_001353703:c.-57_-56insCGAG,NM_001353706:c.-57_-56insCGAG,NM_001353726:c.-57_-56insCGAG,NM_001353725:c.-57_-56insCGAG,NM_001353724:c.-57_-56insCGAG,NM_001353723:c.-57_-56insCGAG,NM_001353722:c.-57_-56insCGAG,NM_001330603:c.-57_-56insCGAG,NM_001353710:c.-57_-56insCGAG,NM_001353717:c.-57_-56insCGAG,NM_001353736:c.-57_-56insCGAG,NM_001353747:c.-57_-56insCGAG,NM_001353702:c.-57_-56insCGAG,NM_001353700:c.-57_-56insCGAG,NM_001353742:c.-57_-56insCGAG,NM_001353746:c.-57_-56insCGAG,NM_001353745:c.-57_-56insCGAG,NM_001353744:c.-57_-56insCGAG,NM_001353743:c.-57_-56insCGAG,NM_001353699:c.-57_-56insCGAG,NM_001353698:c.-57_-56insCGAG,NM_001353727:c.-57_-56insCGAG,NM_001353714:c.-57_-56insCGAG,NM_001353713:c.-57_-56insCGAG,NM_001353712:c.-57_-56insCGAG,NM_001353735:c.-57_-56insCGAG,NM_001353715:c.-57_-56insCGAG,NM_001353748:c.-57_-56insCGAG,NM_001353754:c.-57_-56insCGAG,NM_001353753:c.-57_-56insCGAG,NM_001353752:c.-57_-56insCGAG,NM_001353751:c.-57_-56insCGAG,NM_001353739:c.-57_-56insCGAG,NM_001353740:c.-57_-56insCGAG,NM_001353738:c.-57_-56insCGAG,NM_001353755:c.-57_-56insCGAG,NM_001353721:c.-57_-56insCGAG,NM_001353749:c.-57_-56insCGAG,NM_001353750:c.-57_-56insCGAG,NM_001353733:c.-57_-56insCGAG,NM_001353732:c.-57_-56insCGAG,NM_001353731:c.-57_-56insCGAG,NM_001353729:c.-57_-56insCGAG,NM_001353730:c.-57_-56insCGAG,NM_001353716:c.-57_-56insCGAG,NM_001353720:c.-57_-56insCGAG,NM_001353719:c.-57_-56insCGAG,NM_001353718:c.-57_-56insCGAG,NM_001353697:c.-57_-56insCGAG,NM_001025089:c.-57_-56insCGAG,NM_001025088:c.-57_-56insCGAG,NM_001025087:c.-57_-56insCGAG,NM_001353701:c.-57_-56insCGAG) chr18 35145660 35145660 - CTCG het . 2 +intergenic CELF4(dist=16571),MIR4318(dist=74527) chr18 35162571 35162571 T C het . 1 +intergenic MIR4318(dist=201095),MIR924HG(dist=1348615) chr18 35438273 35438273 C A het . 3 +intergenic MIR4318(dist=333331),MIR924HG(dist=1216379) chr18 35570509 35570509 T A het . 2 +intergenic MIR4318(dist=482125),MIR924HG(dist=1067585) chr18 35719303 35719303 G A het . 4 +intergenic MIR4318(dist=608810),MIR924HG(dist=940900) chr18 35845988 35845988 G A het . 1 +intergenic MIR4318(dist=754112),MIR924HG(dist=795598) chr18 35991290 35991290 G A het . 2 +intergenic MIR4318(dist=867617),MIR924HG(dist=682093) chr18 36104795 36104795 G A het . 2 +intergenic MIR4318(dist=999853),MIR924HG(dist=549857) chr18 36237031 36237031 T C het . 2 +intergenic MIR4318(dist=1105770),MIR924HG(dist=443940) chr18 36342948 36342948 - TCA het . 2 +intergenic MIR4318(dist=1343845),MIR924HG(dist=205865) chr18 36581023 36581023 T C het . 2 +ncRNA_intronic MIR924HG chr18 37155709 37155712 TTTG - het . 1 +intergenic LINC01477(dist=205293),KC6(dist=1175746) chr18 37884490 37884490 G C het . 2 +intergenic LINC01477(dist=422878),KC6(dist=958161) chr18 38102075 38102075 C A het . 2 +intergenic LINC01477(dist=530463),KC6(dist=850576) chr18 38209660 38209660 - AGAA het . 3 +intergenic LINC01477(dist=571610),KC6(dist=809429) chr18 38250807 38250807 A G het . 1 +intergenic LINC01477(dist=803698),KC6(dist=577337) chr18 38482895 38482899 AAAAG - het . 2 +intergenic LINC01477(dist=951123),KC6(dist=429916) chr18 38630320 38630320 A G het . 2 +intergenic LINC01477(dist=1083430),KC6(dist=297609) chr18 38762627 38762627 T C het . 3 +intergenic LINC01477(dist=1193054),KC6(dist=187985) chr18 38872251 38872251 T C het . 2 +intergenic LINC01477(dist=1221878),KC6(dist=159161) chr18 38901075 38901075 C T het . 1 +intergenic LINC01477(dist=1304208),KC6(dist=76831) chr18 38983405 38983405 G A het . 2 +intergenic LINC01477(dist=1304230),KC6(dist=76809) chr18 38983427 38983427 A G het . 2 +intergenic KC6(dist=324236),PIK3C3(dist=110286) chr18 39424877 39424877 T C het . 2 +intergenic KC6(dist=354909),PIK3C3(dist=79613) chr18 39455550 39455550 A G het . 2 +intronic PIK3C3 chr18 39609433 39609433 C A het . 9 +intergenic PIK3C3(dist=89251),LINC00907(dist=15936) chr18 39750697 39750697 - A het . 2 +intergenic PIK3C3(dist=97598),LINC00907(dist=7589) chr18 39759044 39759044 T - het . 2 +ncRNA_intronic LINC00907 chr18 39770594 39770594 T - het . 2 +ncRNA_intronic LINC00907 chr18 39932541 39932541 G A het . 2 +intronic RIT2 chr18 40561579 40561579 C T het . 2 +intronic RIT2 chr18 40613840 40613840 A G het . 19 +intergenic RIT2(dist=144886),SYT4(dist=7314) chr18 40840543 40840543 A T het . 2 +intergenic SYT4(dist=778318),LINC01478(dist=267467) chr18 41635933 41635933 A G het . 2 +intergenic SYT4(dist=791388),LINC01478(dist=254397) chr18 41649003 41649003 C T het . 2 +intergenic SYT4(dist=904223),LINC01478(dist=141562) chr18 41761838 41761838 T C het . 1 +intronic SETBP1 chr18 42462467 42462467 T C het . 1 +exonic SETBP1 chr18 42531885 42531885 C A het . 24 +intronic SETBP1 chr18 42614500 42614500 A T het . 2 +intergenic SETBP1(dist=25339),SLC14A2(dist=119133) chr18 42673814 42673814 T - het . 2 +intergenic SETBP1(dist=66063),SLC14A2(dist=78409) chr18 42714538 42714538 C T het . 1 +intronic SLC14A2 chr18 42978520 42978520 T - het . 3 +intronic SLC14A2 chr18 42978550 42978550 - TA het . 3 +intronic SLC14A2 chr18 42978557 42978557 C T het . 3 +intronic SLC14A2 chr18 43186724 43186724 C A het . 1 +intronic SLC14A1 chr18 43314401 43314401 - A het . 17 +intronic SLC14A1 chr18 43323582 43323582 G A het . 2 +intergenic SLC14A1(dist=32116),SIGLEC15(dist=40944) chr18 43364601 43364601 C T het . 2 +intronic EPG5 chr18 43445731 43445731 A - het . 7 +exonic EPG5 chr18 43490510 43490510 G A het . 9 +intronic EPG5 chr18 43523339 43523339 C T het . 17 +intronic EPG5 chr18 43547128 43547128 G - het . 8 +intronic PSTPIP2 chr18 43607324 43607324 T A het . 3 +intronic PSTPIP2 chr18 43608523 43608523 C A het . 25 +intronic PSTPIP2 chr18 43609195 43609196 AT - het . 29 +intronic PSTPIP2 chr18 43640023 43640023 G A het . 3 +intronic PSTPIP2 chr18 43648622 43648622 A C het . 3 +intronic ATP5F1A chr18 43666952 43666952 C A het . 13 +intronic ATP5F1A chr18 43674646 43674646 C A het . 3 +intronic ATP5F1A chr18 43678411 43678411 C A het . 2 +intronic HAUS1 chr18 43702272 43702272 A - het . 4 +intronic C18orf25 chr18 43841082 43841082 A G het . 3 +exonic LOXHD1 chr18 44068993 44068993 C A het . 10 +intronic LOXHD1 chr18 44173449 44173449 A C het . 3 +intronic LOXHD1 chr18 44177833 44177833 T C het . 2 +intronic LOXHD1 chr18 44234999 44234999 G A het . 1 +intronic LOXHD1 chr18 44235014 44235014 T C het . 2 +exonic ST8SIA5 chr18 44301384 44301384 C T het . 17 +intronic PIAS2 chr18 44424105 44424105 - A het . 12 +intronic PIAS2 chr18 44435586 44435586 A G het . 17 +intronic PIAS2 chr18 44444220 44444220 A - het . 11 +intronic KATNAL2 chr18 44569616 44569616 A T het . 4 +intronic KATNAL2 chr18 44571543 44571543 A G het . 2 +intergenic KATNAL2(dist=1962),HDHD2(dist=3197) chr18 44630576 44630576 A T het . 2 +intronic SKOR2 chr18 44757226 44757226 G T het . 19 +exonic SKOR2 chr18 44757512 44757512 C A het . 41 +intronic SKOR2 chr18 44757614 44757614 C A het . 17 +ncRNA_intronic MIR4527HG chr18 45019880 45019880 C T het . 2 +intergenic MIR4527HG(dist=36144),SMAD2(dist=202404) chr18 45157062 45157062 G T het . 43 +intergenic MIR4527HG(dist=100301),SMAD2(dist=138247) chr18 45221219 45221219 G - het . 2 +intergenic MIR4527HG(dist=100335),SMAD2(dist=138213) chr18 45221253 45221253 T C het . 2 +intergenic MIR4527HG(dist=213862),SMAD2(dist=24686) chr18 45334780 45334780 A T het . 3 +intronic SMAD2 chr18 45395846 45395847 AA - het . 8 +intronic SMAD2 chr18 45418570 45418570 T - het . 2 +intronic SMAD2 chr18 45418580 45418580 T C het . 2 +intronic ZBTB7C chr18 45914201 45914201 - TTG het . 3 +intronic CTIF chr18 46161971 46161971 T C het . 2 +intronic CTIF chr18 46161989 46161989 C T het . 2 +intronic CTIF chr18 46284840 46284840 T C het . 3 +intergenic SMAD7(dist=27718),LOC100129878(dist=45272) chr18 46504799 46504801 GTG CCA het . 2 +ncRNA_intronic LOC100129878 chr18 46562289 46562289 C T het . 2 +intronic DYM chr18 46601050 46601050 T A het . 1 +intronic DYM chr18 46653029 46653029 - T het . 2 +intronic DYM chr18 46665835 46665835 G A het . 1 +exonic DYM chr18 46690105 46690105 G A het . 39 +intronic DYM chr18 46758668 46758668 G T het . 3 +intronic DYM chr18 46783482 46783482 G A het . 32 +intronic DYM chr18 46798374 46798374 - G het . 3 +intronic DYM chr18 46798417 46798417 A T het . 4 +intronic DYM chr18 46882616 46882616 C - het . 2 +intronic DYM chr18 46905929 46905929 C A het . 13 +exonic C18orf32 chr18 47008751 47008751 T C het . 27 +intronic RPL17,RPL17-C18orf32 chr18 47014953 47014953 - TGT het . 29 +intergenic RPL17-C18orf32(dist=2440),LIPG(dist=67026) chr18 47021375 47021375 G C het . 3 +intergenic RPL17-C18orf32(dist=2454),LIPG(dist=67011) chr18 47021389 47021390 CT - het . 2 +intergenic RPL17-C18orf32(dist=6382),LIPG(dist=63084) chr18 47025317 47025317 - A het . 4 +intergenic RPL17-C18orf32(dist=16120),LIPG(dist=53346) chr18 47035055 47035055 - A het . 2 +intronic LIPG chr18 47093707 47093707 A - het . 23 +intergenic LIPG(dist=53902),ACAA2(dist=136693) chr18 47173181 47173181 A G het . 3 +intronic ACAA2 chr18 47313642 47313642 - C het . 4 +intronic MYO5B chr18 47405931 47405931 C T het . 1 +intronic MYO5B chr18 47456165 47456165 C A het . 7 +intronic MYO5B chr18 47463872 47463872 A G het . 6 +intronic MYO5B chr18 47488829 47488829 C A het . 22 +exonic MYO5B chr18 47511113 47511113 C A het . 23 +exonic MYO5B chr18 47511125 47511125 C A het . 25 +intronic MYO5B chr18 47563429 47563429 G A het . 15 +intronic CFAP53 chr18 47778172 47778172 A G het . 10 +intronic CFAP53 chr18 47787623 47787624 AA - het . 7 +UTR3 MBD1(NM_001204151:c.*72G>T,NM_001204142:c.*135G>T) chr18 47796246 47796246 C A het . 11 +exonic CXXC1 chr18 47811374 47811374 G A het . 9 +exonic CXXC1 chr18 47812128 47812128 C A het . 14 +intronic CXXC1 chr18 47813069 47813069 A C het . 13 +intergenic CXXC1(dist=82810),SKA1(dist=3890) chr18 47897502 47897502 A C het . 2 +intronic SKA1 chr18 47911438 47911438 C A het . 2 +intronic MAPK4 chr18 48152084 48152084 T C het . 1 +intergenic MAPK4(dist=39639),MRO(dist=23655) chr18 48297835 48297835 G C het . 2 +intergenic MRO(dist=30591),ME2(dist=23087) chr18 48382345 48382345 G A het . 1 +intergenic MRO(dist=30615),ME2(dist=23063) chr18 48382369 48382369 G T het . 2 +intronic ME2 chr18 48435327 48435327 T - het . 3 +intergenic MEX3C(dist=54008),LINC01630(dist=140353) chr18 48778059 48778059 T C het . 1 +intergenic LINC01630(dist=394544),DCC(dist=383159) chr18 49483383 49483383 T G het . 2 +intergenic LINC01630(dist=600915),DCC(dist=176788) chr18 49689754 49689754 T C het . 2 +intergenic LINC01630(dist=741304),DCC(dist=36399) chr18 49830143 49830143 A T het . 2 +intronic DCC chr18 50444667 50444667 C T het . 2 +intronic DCC chr18 50452258 50452258 C G het . 2 +intronic DCC chr18 50517626 50517626 A T het . 2 +exonic DCC chr18 50831995 50831995 A G het . 45 +intronic DCC chr18 50917790 50917790 G A het . 5 +intronic DCC chr18 50933074 50933074 A - het . 3 +intronic DCC chr18 50964897 50964897 T A het . 1 +intergenic LINC01919(dist=76951),MBD2(dist=476799) chr18 51201172 51201172 G A het . 2 +intergenic LINC01919(dist=77670),MBD2(dist=476080) chr18 51201891 51201891 T A het . 5 +intergenic LINC01919(dist=89145),MBD2(dist=464605) chr18 51213366 51213366 T C het . 2 +intergenic LINC01919(dist=93900),MBD2(dist=459850) chr18 51218121 51218121 A G het . 2 +intergenic LINC01919(dist=102980),MBD2(dist=450770) chr18 51227201 51227201 A - het . 2 +intergenic LINC01919(dist=123842),MBD2(dist=429908) chr18 51248063 51248063 G T het . 2 +intergenic LINC01919(dist=134117),MBD2(dist=419633) chr18 51258338 51258338 T C het . 3 +intergenic LINC01919(dist=164227),MBD2(dist=389523) chr18 51288448 51288448 C G het . 2 +intergenic LINC01919(dist=169461),MBD2(dist=384289) chr18 51293682 51293682 C G het . 2 +intergenic LINC01919(dist=264311),MBD2(dist=289439) chr18 51388532 51388532 T C het . 2 +intergenic LINC01919(dist=265735),MBD2(dist=288015) chr18 51389956 51389956 - C het . 2 +intergenic LINC01919(dist=265739),MBD2(dist=288011) chr18 51389960 51389960 - C het . 2 +intergenic LINC01919(dist=265743),MBD2(dist=288007) chr18 51389964 51389964 - C het . 2 +intergenic LINC01919(dist=265748),MBD2(dist=288002) chr18 51389969 51389969 A C het . 3 +intergenic LINC01919(dist=271588),MBD2(dist=282162) chr18 51395809 51395809 G A het . 2 +intergenic LINC01919(dist=274464),MBD2(dist=279286) chr18 51398685 51398685 C T het . 3 +intergenic LINC01919(dist=284165),MBD2(dist=269585) chr18 51408386 51408386 T C het . 3 +intergenic LINC01919(dist=288176),MBD2(dist=265574) chr18 51412397 51412397 C T het . 2 +intergenic LINC01919(dist=366730),MBD2(dist=187020) chr18 51490951 51490951 G T het . 2 +intergenic LINC01919(dist=430422),MBD2(dist=123328) chr18 51554643 51554643 A - het . 2 +intronic MBD2 chr18 51733146 51733147 AG - het . 3 +intronic MBD2 chr18 51733149 51733149 A C het . 3 +intronic MBD2 chr18 51742187 51742187 C T het . 2 +intergenic MBD2(dist=3049),POLI(dist=41638) chr18 51754207 51754211 AAAAG - het . 3 +intronic STARD6 chr18 51880587 51880587 T A het . 39 +intergenic STARD6(dist=2159),C18orf54(dist=1185) chr18 51883102 51883102 C T het . 3 +intronic C18orf54 chr18 51900788 51900788 - TTAA het . 7 +intronic C18orf54 chr18 51904461 51904461 - TTTA het . 6 +intronic C18orf54 chr18 51904498 51904498 G A het . 13 +UTR3 C18orf54(NM_001288981:c.*25A>G,NM_001288980:c.*25A>G,NM_173529:c.*25A>G,NM_001288982:c.*25A>G) chr18 51904641 51904641 A G het . 22 +UTR3 C18orf54(NM_001288981:c.*28G>A,NM_001288980:c.*28G>A,NM_173529:c.*28G>A,NM_001288982:c.*28G>A) chr18 51904644 51904644 G A het . 22 +downstream C18orf54(dist=638) chr18 51909043 51909043 C T het . 2 +intergenic C18orf54(dist=5078),DYNAP(dist=341507) chr18 51913483 51913483 T C het . 5 +intergenic C18orf54(dist=5287),DYNAP(dist=341298) chr18 51913692 51913692 A G het . 4 +intergenic C18orf54(dist=8245),DYNAP(dist=338340) chr18 51916650 51916650 - TTGTTG het . 2 +intergenic C18orf54(dist=8845),DYNAP(dist=337740) chr18 51917250 51917250 A T het . 2 +intergenic C18orf54(dist=85558),DYNAP(dist=261024) chr18 51993963 51993966 AAAC - het . 4 +intergenic C18orf54(dist=101725),DYNAP(dist=244860) chr18 52010130 52010130 - TT het . 2 +intergenic C18orf54(dist=307270),DYNAP(dist=39315) chr18 52215675 52215675 T C het . 2 +intergenic C18orf54(dist=337047),DYNAP(dist=9538) chr18 52245452 52245452 A G het . 2 +intergenic DYNAP(dist=34927),RAB27B(dist=194057) chr18 52301651 52301651 - TT het . 3 +intergenic DYNAP(dist=61197),RAB27B(dist=167787) chr18 52327921 52327921 G T het . 2 +intergenic DYNAP(dist=167216),RAB27B(dist=61768) chr18 52433940 52433940 G A het . 3 +intergenic DYNAP(dist=211666),RAB27B(dist=17318) chr18 52478390 52478390 G T het . 1 +intergenic DYNAP(dist=214859),RAB27B(dist=14125) chr18 52481583 52481583 A G het . 3 +intronic RAB27B chr18 52507078 52507078 T G het . 1 +intronic RAB27B chr18 52507643 52507643 G C het . 3 +intronic RAB27B chr18 52512776 52512776 G A het . 5 +intronic RAB27B chr18 52534654 52534654 - TTTCT het . 2 +intronic CCDC68 chr18 52585072 52585079 ACACACAC - het . 9 +intronic CCDC68 chr18 52608329 52608329 C A het . 40 +intergenic CCDC68(dist=95528),LINC01929(dist=50868) chr18 52722267 52722267 C T het . 3 +intergenic CCDC68(dist=102753),LINC01929(dist=43643) chr18 52729492 52729492 C A het . 5 +intergenic CCDC68(dist=119181),LINC01929(dist=27215) chr18 52745920 52745920 G T het . 2 +intergenic CCDC68(dist=134959),LINC01929(dist=11437) chr18 52761698 52761698 A G het . 1 +intergenic CCDC68(dist=136841),LINC01929(dist=9555) chr18 52763580 52763580 G A het . 1 +intergenic CCDC68(dist=141072),LINC01929(dist=5324) chr18 52767811 52767811 T C het . 4 +intergenic LINC01929(dist=2803),TCF4(dist=95222) chr18 52794340 52794340 T C het . 3 +intergenic LINC01929(dist=9254),TCF4(dist=88771) chr18 52800791 52800791 G A het . 3 +intergenic LINC01929(dist=15340),TCF4(dist=82682) chr18 52806877 52806880 TCTT - het . 3 +intergenic LINC01929(dist=29526),TCF4(dist=68499) chr18 52821063 52821063 A C het . 2 +intergenic LINC01929(dist=36464),TCF4(dist=61561) chr18 52828001 52828001 C T het . 2 +intergenic LINC01929(dist=48390),TCF4(dist=49635) chr18 52839927 52839927 - GAA het . 6 +intergenic LINC01929(dist=48408),TCF4(dist=49617) chr18 52839945 52839945 A G het . 5 +intergenic LINC01929(dist=50901),TCF4(dist=47124) chr18 52842438 52842438 A G het . 3 +intergenic LINC01929(dist=67445),TCF4(dist=30580) chr18 52858982 52858982 T C het . 2 +intergenic LINC01929(dist=71498),TCF4(dist=26527) chr18 52863035 52863035 C T het . 3 +intergenic LINC01929(dist=80307),TCF4(dist=17718) chr18 52871844 52871844 G C het . 2 +intergenic LINC01929(dist=82875),TCF4(dist=15150) chr18 52874412 52874412 G A het . 2 +intergenic LINC01929(dist=93037),TCF4(dist=4988) chr18 52884574 52884574 T A het . 2 +intergenic LINC01929(dist=94647),TCF4(dist=3378) chr18 52886184 52886184 A T het . 5 +intergenic LINC01929(dist=96813),TCF4(dist=1212) chr18 52888350 52888350 C T het . 3 +downstream TCF4(dist=495) chr18 52889067 52889067 G A het . 1 +intronic TCF4 chr18 52899672 52899672 C A het . 17 +intronic TCF4 chr18 52906169 52906169 C T het . 3 +intronic TCF4 chr18 52910819 52910819 - TTTG het . 2 +intronic TCF4 chr18 52922000 52922000 T C het . 32 +intronic TCF4 chr18 52922007 52922007 C T het . 30 +intronic TCF4 chr18 52966703 52966703 G T het . 3 +intronic TCF4 chr18 52971109 52971109 G A het . 2 +intronic TCF4 chr18 53052169 53052169 C T het . 2 +intronic TCF4 chr18 53068586 53068586 G T het . 2 +intronic TCF4 chr18 53087984 53087984 T A het . 3 +ncRNA_intronic TCF4-AS1 chr18 53131209 53131212 GAGA - het . 11 +ncRNA_intronic TCF4-AS1 chr18 53142151 53142151 C G het . 2 +intronic TCF4 chr18 53230469 53230469 - AA het . 2 +intronic TCF4 chr18 53254072 53254072 A - het . 3 +intergenic TCF4(dist=38845),LINC01415(dist=99763) chr18 53342069 53342069 A G het . 2 +UTR5 TXNL1(NM_004786:c.-86C>T) chr18 54305757 54305757 G A het . 3 +intergenic LINC-ROR(dist=23516),BOD1L2(dist=51427) chr18 54762866 54762866 A T het . 2 +intergenic LINC02565(dist=43771),ST8SIA3(dist=137525) chr18 54882196 54882196 G A het . 2 +intronic ONECUT2 chr18 55134586 55134588 TTG - het . 3 +intronic ONECUT2 chr18 55134600 55134600 G T het . 3 +intergenic ONECUT2(dist=17394),FECH(dist=36149) chr18 55175924 55175924 G A het . 2 +intergenic ONECUT2(dist=18118),FECH(dist=35424) chr18 55176648 55176649 TT - het . 3 +intergenic ONECUT2(dist=18120),FECH(dist=35423) chr18 55176650 55176650 A G het . 3 +intronic FECH chr18 55251411 55251412 AA - het . 3 +UTR5 LOC100505549(NM_001242804:c.-128C>T) chr18 55309018 55309018 C T het . 1 +exonic ATP8B1 chr18 55317604 55317604 C A het . 21 +intronic ATP8B1,LOC100505549 chr18 55320823 55320823 G T het . 1 +UTR3 LOC100505549(NM_001242804:c.*553C>G) chr18 55335960 55335960 C G het . 4 +intronic NEDD4L chr18 55832896 55832896 C T het . 4 +intronic NEDD4L chr18 55983309 55983309 T G het . 3 +intronic NEDD4L chr18 55983330 55983330 T C het . 2 +intronic NEDD4L chr18 56054617 56054617 T - het . 5 +intronic ALPK2 chr18 56196072 56196072 G T het . 4 +exonic ALPK2 chr18 56203074 56203074 G A het . 15 +exonic ALPK2 chr18 56204388 56204402 CAGTTGATGTGTCCT - het . 12 +exonic ALPK2 chr18 56204410 56204410 C T het . 14 +intronic MALT1 chr18 56363534 56363534 A C het . 5 +intergenic SEC11C(dist=27895),GRP(dist=33434) chr18 56853964 56853966 AAA - het . 2 +intronic CCBE1 chr18 57364089 57364089 G C het . 9 +intergenic PMAIP1(dist=113395),MC4R(dist=353631) chr18 57684933 57684933 - TTA het . 4 +intergenic PMAIP1(dist=119847),MC4R(dist=347179) chr18 57691385 57691385 T C het . 3 +intergenic PMAIP1(dist=292554),MC4R(dist=174472) chr18 57864092 57864092 C G het . 5 +intergenic MC4R(dist=87532),CDH20(dist=873282) chr18 58127533 58127533 T C het . 5 +intergenic MC4R(dist=332385),CDH20(dist=628429) chr18 58372386 58372386 G T het . 2 +UTR5 CDH20(NM_031891:c.-23T>C) chr18 59157764 59157764 T C het . 5 +intronic CDH20 chr18 59212418 59212418 C A het . 10 +intergenic CDH20(dist=144001),LINC01544(dist=48402) chr18 59367007 59367007 G T het . 3 +exonic RNF152 chr18 59483319 59483319 C A het . 8 +intronic PIGN chr18 59768117 59768117 G A het . 3 +intronic TNFRSF11A chr18 60025458 60025458 G T het . 6 +intergenic ZCCHC2(dist=26278),PHLPP1(dist=110574) chr18 60272096 60272098 AGG - het . 3 +intronic PHLPP1 chr18 60625859 60625859 C A het . 6 +intronic KDSR chr18 61008706 61008706 - A het . 3 +intronic VPS4B chr18 61064221 61064222 AA - het . 4 +intergenic SERPINB13(dist=34680),SERPINB4(dist=3380) chr18 61301113 61301113 T C het . 2 +intronic SERPINB4 chr18 61308895 61308895 A G het . 4 +exonic SERPINB11 chr18 61390570 61390570 T G het . 2 +exonic SERPINB8 chr18 61647069 61647069 G A het . 18 +intergenic SERPINB8(dist=19945),LINC00305(dist=40285) chr18 61706958 61706958 C A het . 2 +intergenic LINC01924(dist=281773),CDH7(dist=1044888) chr18 62372600 62372600 G C het . 2 +intergenic CDH7(dist=561197),CDH19(dist=54855) chr18 64113569 64113569 A G het . 2 +intergenic CDH19(dist=217106),MIR5011(dist=260340) chr18 64488481 64488481 - T het . 2 +intergenic LOC643542(dist=708481),TMX3(dist=65588) chr18 66275337 66275337 - AGAAT het . 3 +intronic TMX3 chr18 66351627 66351627 G T het . 8 +intronic CCDC102B chr18 66541652 66541652 A C het . 2 +intergenic CCDC102B(dist=135946),DOK6(dist=209912) chr18 66858372 66858372 A - het . 3 +intronic DOK6 chr18 67276384 67276384 G A het . 1 +intronic CD226 chr18 67563348 67563348 T C het . 2 +intronic CD226 chr18 67563353 67563353 C A het . 2 +intronic RTTN chr18 67754148 67754148 C T het . 2 +intronic RTTN chr18 67789436 67789436 G T het . 2 +intronic RTTN chr18 67817628 67817628 C A het . 3 +intergenic RTTN(dist=61862),SOCS6(dist=21313) chr18 67934824 67934824 C T het . 3 +ncRNA_intronic LINC01909 chr18 68017852 68017852 A G het . 1 +intergenic LINC01910(dist=27906),GTSCR1(dist=218022) chr18 68079733 68079733 T - het . 2 +intergenic GTSCR1(dist=137066),LINC01541(dist=732041) chr18 68455159 68455159 G A het . 2 +intergenic GTSCR1(dist=354065),LINC01541(dist=515042) chr18 68672158 68672158 T G het . 2 +ncRNA_intronic LINC01899 chr18 69422625 69422625 A G het . 2 +intergenic LINC01899(dist=62875),CBLN2(dist=691578) chr18 69512337 69512337 A G het . 2 +intergenic LINC01899(dist=596701),CBLN2(dist=157752) chr18 70046163 70046163 T C het . 2 +exonic NETO1 chr18 70417396 70417396 C T het . 3 +intergenic LINC02582(dist=124607),FBXO15(dist=598857) chr18 71141731 71141731 A T het . 2 +intergenic LINC02582(dist=538533),FBXO15(dist=184931) chr18 71555657 71555657 C A het . 3 +intronic CYB5A chr18 71930834 71930834 - TG het . 9 +intronic CYB5A chr18 71930844 71930844 C G het . 8 +intronic CYB5A chr18 71930889 71930889 A G het . 3 +intronic CYB5A chr18 71930904 71930905 TA CG het . 3 +intergenic CYB5A(dist=21551),C18orf63(dist=2305) chr18 71980802 71980805 AAAC - het . 4 +intronic C18orf63 chr18 72005673 72005673 C A het . 2 +intergenic C18orf63(dist=30631),LINC01922(dist=19630) chr18 72057053 72057053 - T het . 2 +intergenic C18orf63(dist=30634),LINC01922(dist=19627) chr18 72057056 72057056 A T het . 2 +intergenic C18orf63(dist=48850),LINC01922(dist=1411) chr18 72075272 72075272 G T het . 2 +intronic FAM69C chr18 72109174 72109174 C A het . 3 +intronic CNDP2 chr18 72178300 72178300 G T het . 6 +exonic CNDP1 chr18 72223591 72223591 - TGC het . 6 +exonic CNDP1 chr18 72228124 72228124 A G het . 11 +intronic CNDP1 chr18 72245660 72245660 - G het . 3 +exonic ZNF407 chr18 72345558 72345558 T C het . 7 +intronic ZNF407 chr18 72646871 72646871 A G het . 2 +intronic ZNF407 chr18 72686448 72686448 G A het . 2 +intergenic TSHZ1(dist=3965),SMIM21(dist=115561) chr18 73005870 73005870 C A het . 1 +intergenic TSHZ1(dist=3967),SMIM21(dist=115558) chr18 73005872 73005873 TG - het . 1 +intergenic TSHZ1(dist=62517),SMIM21(dist=57009) chr18 73064422 73064422 A C het . 3 +intronic SMIM21 chr18 73130706 73130706 T - het . 7 +intergenic SMIM21(dist=17417),LINC01898(dist=250963) chr18 73157075 73157075 - A het . 2 +intergenic LINC01898(dist=190915),LOC339298(dist=219680) chr18 73615273 73615273 A G het . 1 +intergenic LINC01898(dist=275325),LOC339298(dist=135270) chr18 73699683 73699683 C A het . 1 +intergenic LINC01898(dist=275334),LOC339298(dist=135261) chr18 73699692 73699692 T C het . 1 +intergenic LINC01893(dist=26613),ZNF516(dist=115245) chr18 73954392 73954392 T A het . 1 +intronic ZNF236 chr18 74648536 74648536 G T het . 2 +UTR3 ZNF236(NM_001306089:c.*175A>G,NM_007345:c.*175A>G) chr18 74680470 74680470 A G het . 2 +intronic MBP chr18 74780862 74780862 G T het . 3 +intergenic GALR1(dist=309087),LINC01029(dist=392070) chr18 75291183 75291183 T C het . 1 +intergenic GALR1(dist=375678),LINC01029(dist=325479) chr18 75357774 75357774 G C het . 2 +intergenic LINC01029(dist=606536),SALL3(dist=428055) chr18 76312219 76312220 AT - het . 2 +intergenic LINC01029(dist=904966),SALL3(dist=129626) chr18 76610649 76610649 C A het . 3 +exonic SALL3 chr18 76753588 76753588 A G het . 5 +intronic ATP9B chr18 77137202 77137202 A G het . 7 +intronic NFATC1 chr18 77170006 77170006 C T het . 8 +ncRNA_intronic LOC284241 chr18 77421807 77421807 G C het . 1 +intronic CTDP1 chr18 77455412 77455412 C T het . 7 +intronic CTDP1 chr18 77455871 77455871 C T het . 2 +intronic CTDP1 chr18 77456172 77456172 A G het . 4 +intronic HSBP1L1 chr18 77726545 77726545 A - het . 11 +UTR3 ADNP2(NM_014913:c.*7_*8insA) chr18 77896699 77896699 - A het . 7 +intronic PLPP2 chr19 282844 282844 C T het . 13 +exonic PLPP2 chr19 288062 288062 G A het . 6 +intronic PLPP2 chr19 291182 291182 C - het . 6 +intronic PLPP2 chr19 291184 291184 A T het . 6 +exonic SHC2 chr19 460668 460668 C G het . 3 +intronic MADCAM1 chr19 499426 499429 ACAC - het . 5 +intronic BSG chr19 582468 582468 A G het . 9 +intergenic AZU1(dist=5060),PRTN3(dist=3907) chr19 837078 837078 T G het . 1 +intronic R3HDM4 chr19 899369 899369 C A het . 3 +intronic KISS1R chr19 918408 918411 GGGA - het . 2 +exonic ARID3A chr19 971933 971933 A G het . 10 +exonic ARID3A chr19 971949 971949 G A het . 9 +exonic GRIN3B chr19 1000785 1000785 C T het . 8 +exonic GRIN3B chr19 1000799 1000799 G C het . 7 +exonic ABCA7 chr19 1056492 1056492 G C het . 7 +intronic ABCA7 chr19 1065197 1065197 G C het . 3 +intronic POLR2E chr19 1090021 1090021 G - het . 3 +intronic POLR2E chr19 1095151 1095151 A G het . 4 +intronic POLR2E chr19 1095185 1095185 C A het . 7 +UTR5 GPX4(NM_002085:c.-70C>G,NM_001039847:c.-70C>G) chr19 1103973 1103973 C G het . 7 +intergenic SBNO2(dist=29478),STK11(dist=2036) chr19 1203760 1203762 GAG - het . 7 +intronic CIRBP chr19 1271529 1271529 C T het . 3 +intergenic EFNA2(dist=36013),MUM1(dist=17534) chr19 1337442 1337442 A C het . 2 +intronic MUM1 chr19 1364238 1364238 C A het . 8 +intronic MUM1 chr19 1366180 1366197 GCTGGGGTCACCCCCAGA - het . 13 +intronic NDUFS7 chr19 1391235 1391235 G A het . 5 +intronic NDUFS7 chr19 1391249 1391249 T G het . 4 +exonic GAMT chr19 1398750 1398750 C T het . 13 +intronic DAZAP1 chr19 1422299 1422299 T C het . 4 +exonic APC2 chr19 1466344 1466344 C T het . 7 +exonic APC2 chr19 1467684 1467684 A C het . 3 +downstream PCSK4(dist=602) chr19 1480825 1480825 G A het . 2 +intronic PLK5 chr19 1533870 1533870 T G het . 2 +exonic PLK5 chr19 1535069 1535069 C A het . 1 +exonic PLK5 chr19 1535084 1535084 G A het . 2 +UTR3 MEX3D(NM_203304:c.*127_*128insG) chr19 1555434 1555434 - C het . 4 +intergenic TCF3(dist=54813),ONECUT3(dist=46521) chr19 1707141 1707141 A - het . 2 +intronic REXO1 chr19 1818929 1818973 GGCCCACGAAGCACCGTGTGGCACAGCAGGGGCTGGGCCGGCAGA - het . 4 +exonic REXO1 chr19 1828152 1828152 G C het . 5 +intergenic KLF16(dist=3295),ABHD17A(dist=10116) chr19 1866859 1866859 T C het . 2 +intronic SCAMP4 chr19 1915118 1915118 A C het . 7 +intronic SCAMP4 chr19 1915944 1915944 A - het . 2 +intronic SCAMP4 chr19 1918761 1918761 A - het . 3 +UTR3 MKNK2(NM_199054:c.*1766T>G) chr19 2037846 2037846 A C het . 6 +UTR3 MKNK2(NM_199054:c.*1653A>G) chr19 2037959 2037959 T C het . 5 +intronic MKNK2 chr19 2043271 2043271 G A het . 3 +intronic IZUMO4 chr19 2097986 2097986 T C het . 15 +intronic IZUMO4 chr19 2098015 2098015 T C het . 16 +intronic IZUMO4 chr19 2098216 2098216 C A het . 3 +intronic IZUMO4 chr19 2098237 2098237 C T het . 5 +intronic AP3D1 chr19 2134559 2134559 T C het . 3 +intronic DOT1L chr19 2194657 2194657 C T het . 7 +intronic DOT1L chr19 2214057 2214057 C T het . 2 +intronic SF3A2 chr19 2243336 2243336 C G het . 4 +intronic SF3A2 chr19 2246652 2246652 G A het . 2 +UTR5 JSRP1(NM_144616:c.-23T>C) chr19 2255336 2255336 A G het . 3 +intronic OAZ1 chr19 2271741 2271741 G A het . 2 +exonic SPPL2B chr19 2339958 2339958 T C het . 12 +intronic SPPL2B chr19 2341047 2341047 C T het . 9 +intronic SPPL2B chr19 2341059 2341060 GT AC het . 9 +intronic SPPL2B chr19 2341094 2341101 CTCCCTGG - het . 6 +intronic SPPL2B chr19 2341103 2341103 G - het . 6 +UTR3 GNG7(NM_052847:c.*53_*52delCT) chr19 2514967 2514968 AG - het . 7 +intronic GNG7 chr19 2539880 2539880 - TCCT het . 2 +intronic GNG7 chr19 2596673 2596673 A C het . 2 +intronic SLC39A3 chr19 2738705 2738705 C T het . 2 +intronic SGTA chr19 2765328 2765328 G C het . 7 +intronic SGTA chr19 2767243 2767243 C T het . 6 +intronic ZNF554 chr19 2822045 2822045 C T het . 3 +intronic ZNF556 chr19 2872179 2872179 T C het . 3 +intronic ZNF556 chr19 2876641 2876641 A G het . 3 +intergenic ZNF556(dist=13908),ZNF57(dist=8485) chr19 2892411 2892411 T C het . 4 +intergenic ZNF556(dist=18445),ZNF57(dist=3948) chr19 2896948 2896948 T C het . 15 +intergenic ZNF556(dist=18450),ZNF57(dist=3943) chr19 2896953 2896953 A G het . 15 +upstream ZNF57(dist=77) chr19 2900819 2900819 T C het . 2 +upstream ZNF57(dist=55) chr19 2900841 2900841 G A het . 4 +upstream ZNF57(dist=31) chr19 2900865 2900865 G A het . 4 +intronic ZNF57 chr19 2905115 2905115 C T het . 1 +intronic ZNF57 chr19 2915738 2915738 T A het . 16 +exonic ZNF77 chr19 2934625 2934625 C T het . 10 +intronic TLE6 chr19 2978135 2978135 G C het . 2 +exonic TLE6 chr19 2989697 2989697 T C het . 9 +intronic TLE6 chr19 2993946 2993946 G A het . 5 +intronic TLE6 chr19 2994107 2994107 - T het . 10 +exonic TLE2 chr19 2997881 2997881 C - het . 14 +exonic TLE2 chr19 2997897 2997897 G A het . 17 +exonic AES chr19 3062795 3062795 C A het . 14 +intergenic AES(dist=26262),GNA11(dist=5182) chr19 3089226 3089226 C T het . 2 +intronic NCLN chr19 3198777 3198777 A G het . 2 +intronic CELF5 chr19 3272366 3272366 A C het . 1 +intronic CELF5 chr19 3272368 3272368 G A het . 1 +intergenic CELF5(dist=10183),NFIC(dist=52305) chr19 3307256 3307256 A T het . 2 +intronic NFIC chr19 3396976 3396976 C A het . 6 +intronic NFIC chr19 3438278 3438278 G C het . 2 +exonic C19orf71 chr19 3543261 3543261 C T het . 7 +ncRNA_exonic CACTIN-AS1 chr19 3612808 3612809 GG AA het . 18 +ncRNA_exonic CACTIN-AS1 chr19 3612819 3612819 G A het . 15 +upstream TJP3(dist=140) chr19 3708195 3708195 C T het . 2 +exonic TJP3 chr19 3730041 3730041 C T het . 12 +ncRNA_intronic MIR1268A chr19 3766720 3766720 A G het . 1 +ncRNA_intronic MIR1268A chr19 3805925 3805925 G A het . 3 +ncRNA_intronic MIR1268A chr19 3811457 3811457 G C het . 1 +exonic ZFR2 chr19 3831449 3831449 G A het . 7 +exonic ZFR2 chr19 3834863 3834863 C T het . 3 +ncRNA_intronic MIR1268A chr19 3846980 3846980 G A het . 1 +ncRNA_intronic MIR1268A chr19 3913702 3913702 A C het . 5 +ncRNA_intronic MIR1268A chr19 3939703 3939703 G A het . 2 +ncRNA_intronic MIR1268A chr19 3962749 3962749 T C het . 2 +ncRNA_intronic MIR1268A chr19 3980824 3980824 A G het . 3 +UTR3 MAP2K2(NM_030662:c.*24C>T) chr19 4090572 4090572 G A het . 9 +intronic MAP2K2 chr19 4110408 4110408 T C het . 3 +intronic MAP2K2 chr19 4117290 4117290 T C het . 2 +intergenic MAP2K2(dist=11048),CREB3L3(dist=18424) chr19 4135174 4135174 T C het . 2 +intergenic MAP2K2(dist=11051),CREB3L3(dist=18421) chr19 4135177 4135177 A G het . 2 +intronic CREB3L3 chr19 4167332 4167332 - AAGAAAGA het . 2 +exonic ANKRD24 chr19 4207505 4207505 C A het . 13 +exonic ANKRD24 chr19 4216860 4216860 G A het . 16 +exonic ANKRD24 chr19 4216910 4216910 G A het . 21 +exonic ANKRD24 chr19 4217207 4217207 T G het . 11 +intronic STAP2 chr19 4325134 4325134 A - het . 3 +exonic MPND chr19 4352959 4352959 A G het . 2 +exonic MPND chr19 4352964 4352964 T G het . 1 +exonic CHAF1A chr19 4442336 4442336 C T het . 8 +intronic UBXN6 chr19 4446786 4446786 A C het . 3 +intergenic UBXN6(dist=12075),HDGFL2(dist=2327) chr19 4469866 4469866 T - het . 2 +intronic HDGFL2 chr19 4488632 4488632 C T het . 3 +intronic HDGFL2 chr19 4497198 4497198 - TTTTG het . 17 +exonic HDGFL2 chr19 4499633 4499647 AGCTGGCCGGGGAGG - het . 7 +UTR3 HDGFL2(NM_001001520:c.*26C>T,NM_032631:c.*26C>T,NM_001348169:c.*26C>T) chr19 4502048 4502048 C T het . 11 +exonic PLIN4 chr19 4511350 4511350 T A het . 16 +exonic PLIN4 chr19 4511453 4511453 G A het . 19 +exonic PLIN4 chr19 4511525 4511525 A G het . 14 +exonic PLIN4 chr19 4511955 4511955 T C het . 11 +exonic PLIN4 chr19 4512514 4512514 G C het . 10 +exonic PLIN4 chr19 4512669 4512669 T C het . 15 +exonic PLIN4 chr19 4512748 4512748 T C het . 16 +intronic PLIN4 chr19 4514135 4514135 C T het . 1 +intergenic SEMA6B(dist=58609),TNFAIP8L1(dist=21147) chr19 4618380 4618380 A G het . 3 +intergenic SEMA6B(dist=61486),TNFAIP8L1(dist=18270) chr19 4621257 4621257 - C het . 1 +intronic DPP9 chr19 4704089 4704089 C A het . 16 +intergenic FEM1A(dist=6981),TICAM1(dist=13384) chr19 4802552 4802552 G A het . 2 +intergenic FEM1A(dist=15866),TICAM1(dist=4490) chr19 4811437 4811446 AAGAAGAAGA - het . 3 +intronic PLIN3 chr19 4844666 4844666 C - het . 7 +exonic PLIN3 chr19 4847713 4847713 A G het . 2 +intronic PLIN3 chr19 4852337 4852337 A C het . 3 +exonic PLIN3 chr19 4859631 4859631 G T het . 17 +intronic ARRDC5 chr19 4894762 4894764 GAG - het . 6 +intronic ARRDC5 chr19 4896948 4896948 - T het . 8 +intronic UHRF1 chr19 4954644 4954644 C T het . 5 +exonic UHRF1 chr19 4954679 4954679 - C het . 3 +intergenic KDM4B(dist=20491),PTPRS(dist=31417) chr19 5174099 5174102 AAAC - het . 15 +UTR3 PTPRS(NM_130855:c.*10T>C,NM_130854:c.*10T>C,NM_130853:c.*10T>C,NM_002850:c.*10T>C) chr19 5206775 5206775 A G het . 5 +intronic PTPRS chr19 5240194 5240194 C - het . 4 +intronic PTPRS chr19 5260878 5260878 T C het . 12 +intronic PTPRS chr19 5260880 5260880 T - het . 12 +intronic PTPRS chr19 5263061 5263061 G T het . 6 +intronic PTPRS chr19 5277888 5277888 C G het . 24 +intergenic PTPRS(dist=17018),ZNRF4(dist=97594) chr19 5357832 5357832 T G het . 3 +intergenic PTPRS(dist=51781),ZNRF4(dist=62831) chr19 5392595 5392595 G T het . 3 +intergenic PTPRS(dist=86856),ZNRF4(dist=27756) chr19 5427670 5427670 T C het . 3 +intergenic ZNRF4(dist=80718),TINCR(dist=20593) chr19 5537585 5537585 - C het . 2 +intronic SAFB2 chr19 5591862 5591862 G A het . 10 +intronic SAFB2 chr19 5607671 5607671 C A het . 1 +intronic SAFB2 chr19 5607688 5607688 C T het . 2 +intronic SAFB2 chr19 5613394 5613394 C A het . 11 +intronic LONP1 chr19 5714322 5714322 T - het . 11 +intronic CATSPERD chr19 5739321 5739321 T - het . 23 +intronic CATSPERD chr19 5759231 5759231 T G het . 9 +intronic CATSPERD chr19 5768395 5768395 T C het . 11 +intergenic DUS3L(dist=28614),NRTN(dist=3950) chr19 5819863 5819863 G A het . 2 +intergenic DUS3L(dist=28677),NRTN(dist=3887) chr19 5819926 5819926 A G het . 2 +UTR3 FUT5(NM_002034:c.*27G>A) chr19 5866585 5866585 C T het . 17 +intronic RANBP3 chr19 5917685 5917685 C T het . 13 +ncRNA_intronic LOC100128568 chr19 5994966 5994966 G A het . 9 +ncRNA_intronic LOC100128568 chr19 5995716 5995716 T G het . 19 +intronic RFX2 chr19 6026289 6026289 A - het . 11 +intronic RFX2 chr19 6072991 6072991 T A het . 10 +intronic ACSBG2 chr19 6143984 6143986 TTG - het . 2 +intronic ACSBG2 chr19 6151703 6151703 C T het . 9 +intronic ACSBG2 chr19 6153871 6153875 AAAGA - het . 1 +intergenic ACER1(dist=15449),CLPP(dist=12374) chr19 6349089 6349089 G A het . 4 +exonic GTF2F1 chr19 6381410 6381412 CTC - het . 6 +intronic SLC25A41 chr19 6430504 6430504 T - het . 5 +intergenic SLC25A41(dist=2718),SLC25A23(dist=3566) chr19 6436508 6436509 GA - het . 6 +intronic DENND1C chr19 6476763 6476763 G A het . 4 +exonic TUBB4A chr19 6495595 6495595 C T het . 26 +intergenic TNFSF9(dist=26830),CD70(dist=18888) chr19 6562769 6562769 - T het . 8 +exonic C3 chr19 6690690 6690690 C A het . 32 +intronic C3 chr19 6697829 6697829 G T het . 11 +exonic C3 chr19 6702205 6702205 C A het . 38 +intronic C3 chr19 6710572 6710572 G A het . 6 +intronic C3 chr19 6710585 6710588 GAGA - het . 5 +exonic C3 chr19 6718379 6718379 C A het . 17 +exonic C3 chr19 6718387 6718387 G C het . 15 +intronic GPR108 chr19 6732615 6732615 T C het . 3 +intronic GPR108 chr19 6733568 6733568 C A het . 9 +intronic TRIP10 chr19 6746456 6746456 C A het . 17 +intronic TRIP10 chr19 6750204 6750204 C T het . 4 +intronic SH2D3A chr19 6754774 6754774 C A het . 3 +exonic ADGRE1 chr19 6896483 6896483 G A het . 16 +exonic ADGRE1 chr19 6896497 6896497 C A het . 15 +intronic ADGRE1 chr19 6908675 6908675 - T het . 12 +intronic ADGRE1 chr19 6921697 6921697 - T het . 6 +intronic ADGRE1 chr19 6935829 6935829 C A het . 2 +intronic ADGRE1 chr19 6935863 6935863 A G het . 1 +ncRNA_intronic ADGRE4P chr19 6961182 6961182 G A het . 6 +ncRNA_intronic ADGRE4P chr19 6988914 6988914 A G het . 4 +ncRNA_intronic ADGRE4P chr19 6990232 6990235 TTCT - het . 1 +intergenic FLJ25758(dist=5340),MBD3L2B(dist=7405) chr19 7011766 7011766 T C het . 2 +downstream MBD3L2B(dist=328) chr19 7018839 7018843 AAGAA - het . 2 +intronic ZNF557 chr19 7076255 7076255 T C het . 4 +intergenic ZNF557(dist=18120),INSR(dist=6168) chr19 7106098 7106098 - AAAG het . 9 +UTR3 INSR(NM_001079817:c.*104A>G,NM_000208:c.*104A>G) chr19 7116963 7116963 T C het . 6 +intronic INSR chr19 7166044 7166044 A - het . 11 +exonic INSR chr19 7170578 7170578 C A het . 38 +intronic INSR chr19 7184675 7184682 AAATAAAT - het . 10 +intronic INSR chr19 7228987 7228987 C T het . 2 +intronic INSR chr19 7267278 7267278 T - het . 11 +intronic ARHGEF18 chr19 7511782 7511783 AA - het . 9 +intronic ARHGEF18 chr19 7512065 7512065 T A het . 14 +exonic ARHGEF18 chr19 7532496 7532496 C A het . 4 +intronic TEX45 chr19 7571094 7571094 G T het . 4 +exonic ZNF358 chr19 7585338 7585364 GCAGCTGCCGCGGCCGCTGCAGCTGCA - het . 6 +exonic MCOLN1 chr19 7593589 7593589 C T het . 38 +intronic PNPLA6 chr19 7600577 7600577 T G het . 5 +intronic PNPLA6 chr19 7606367 7606367 C A het . 14 +intronic PNPLA6 chr19 7610952 7610952 A G het . 4 +intronic PNPLA6 chr19 7611117 7611117 T C het . 2 +intronic PNPLA6 chr19 7613995 7613995 T A het . 2 +exonic PNPLA6 chr19 7614888 7614888 C G het . 25 +intronic PNPLA6 chr19 7615585 7615585 T G het . 6 +intronic PNPLA6 chr19 7619647 7619648 GT CC het . 14 +intronic PNPLA6 chr19 7619700 7619700 G A het . 7 +intronic PNPLA6 chr19 7620116 7620116 A G het . 13 +intronic PNPLA6 chr19 7621475 7621475 T G het . 27 +intronic PNPLA6 chr19 7621648 7621648 C T het . 12 +intronic PNPLA6 chr19 7621981 7621981 A G het . 9 +intronic PNPLA6 chr19 7622226 7622226 G A het . 15 +intronic PNPLA6 chr19 7623410 7623410 T C het . 2 +intronic PNPLA6 chr19 7623700 7623700 G A het . 5 +intronic PNPLA6 chr19 7625723 7625723 C T het . 7 +intronic PNPLA6 chr19 7626014 7626014 C - het . 22 +intronic PNPLA6 chr19 7626071 7626071 T C het . 26 +intronic PNPLA6 chr19 7626275 7626275 C G het . 14 +downstream PNPLA6(dist=16) chr19 7626669 7626669 G A het . 5 +intergenic PNPLA6(dist=7459),CAMSAP3(dist=26676) chr19 7634112 7634112 C T het . 4 +intergenic PNPLA6(dist=12387),CAMSAP3(dist=21748) chr19 7639040 7639040 C G het . 3 +intergenic PNPLA6(dist=12443),CAMSAP3(dist=21692) chr19 7639096 7639096 C T het . 2 +intergenic PNPLA6(dist=32499),CAMSAP3(dist=1636) chr19 7659152 7659152 C T het . 2 +intronic CAMSAP3 chr19 7668105 7668105 T - het . 2 +exonic CAMSAP3 chr19 7675369 7675369 C T het . 6 +intronic CAMSAP3 chr19 7680003 7680003 G C het . 12 +exonic CAMSAP3 chr19 7680476 7680476 G A het . 4 +intronic XAB2 chr19 7687626 7687626 C G het . 13 +intronic XAB2 chr19 7688838 7688838 A G het . 2 +intronic XAB2 chr19 7691001 7691001 G C het . 10 +exonic XAB2 chr19 7694393 7694393 G A het . 19 +intronic PET100 chr19 7695620 7695620 T C het . 7 +exonic PCP2 chr19 7697397 7697397 T G het . 4 +exonic PCP2 chr19 7698320 7698320 C T het . 19 +intronic STXBP2 chr19 7703605 7703605 C T het . 20 +intronic STXBP2 chr19 7704816 7704825 ATGTGTGTGC - het . 7 +intronic STXBP2 chr19 7710210 7710210 A G het . 11 +intronic STXBP2 chr19 7710269 7710269 A G het . 4 +exonic STXBP2 chr19 7711221 7711221 T C het . 25 +intronic STXBP2 chr19 7712161 7712161 C T het . 18 +exonic STXBP2 chr19 7712277 7712277 A G het . 22 +intergenic STXBP2(dist=4622),RETN(dist=16590) chr19 7717382 7717382 T G het . 2 +intronic RETN chr19 7734369 7734369 C T het . 16 +intronic RETN chr19 7735089 7735089 G C het . 9 +intronic MCEMP1 chr19 7742345 7742345 G A het . 2 +intronic MCEMP1 chr19 7743159 7743159 G A het . 8 +exonic TRAPPC5 chr19 7747445 7747445 G A het . 14 +exonic FCER2 chr19 7755056 7755056 G A het . 13 +intronic FCER2 chr19 7755159 7755159 A G het . 10 +intronic FCER2 chr19 7755213 7755213 C T het . 3 +intronic FCER2 chr19 7755285 7755285 A G het . 4 +intronic FCER2 chr19 7755469 7755469 T C het . 2 +intronic FCER2 chr19 7755472 7755472 G T het . 1 +intronic FCER2 chr19 7755478 7755479 TG CA het . 1 +intronic FCER2 chr19 7755482 7755482 A G het . 1 +intronic FCER2 chr19 7755485 7755485 G A het . 1 +intronic FCER2 chr19 7756191 7756191 C T het . 2 +intronic FCER2 chr19 7757456 7757456 G A het . 3 +intronic FCER2 chr19 7757728 7757728 C T het . 1 +intronic FCER2 chr19 7757753 7757753 C A het . 2 +intronic FCER2 chr19 7757769 7757769 A G het . 2 +intronic FCER2 chr19 7758316 7758316 C G het . 2 +intronic FCER2 chr19 7758618 7758618 T C het . 3 +intronic FCER2 chr19 7759715 7759715 G C het . 2 +intronic FCER2 chr19 7759724 7759724 T - het . 2 +intronic FCER2 chr19 7761219 7761219 T C het . 2 +intronic FCER2 chr19 7761222 7761222 C A het . 2 +intronic FCER2 chr19 7761667 7761667 A G het . 5 +intronic FCER2 chr19 7761812 7761812 A G het . 8 +intronic FCER2 chr19 7762381 7762389 CCCCTGCAA - het . 19 +intronic FCER2 chr19 7764436 7764436 G T het . 11 +intronic FCER2 chr19 7764545 7764545 - C het . 6 +intronic FCER2 chr19 7764741 7764741 G A het . 6 +intronic FCER2 chr19 7764772 7764772 T C het . 3 +intronic CLEC4G chr19 7795793 7795793 G A het . 6 +intronic CLEC4G chr19 7795813 7795813 G A het . 4 +intronic CLEC4G chr19 7796235 7796235 C T het . 2 +intronic CLEC4G chr19 7796497 7796497 C G het . 5 +intergenic CLEC4G(dist=1898),CD209(dist=5926) chr19 7798955 7798955 - A het . 3 +intergenic CLEC4G(dist=4468),CD209(dist=3356) chr19 7801525 7801525 C T het . 2 +UTR3 CD209(NM_001144897:c.*1974T>A,NM_001144896:c.*1974T>A,NM_001144895:c.*1974T>A,NM_001144894:c.*1974T>A,NM_001144893:c.*1974T>A,NM_001144899:c.*1974T>A,NM_021155:c.*1974T>A) chr19 7805951 7805951 A T het . 4 +UTR3 CD209(NM_001144897:c.*1202C>T,NM_001144896:c.*1202C>T,NM_001144895:c.*1202C>T,NM_001144894:c.*1202C>T,NM_001144893:c.*1202C>T,NM_001144899:c.*1202C>T,NM_021155:c.*1202C>T) chr19 7806723 7806723 G A het . 3 +UTR3 CD209(NM_001144897:c.*1057A>T,NM_001144896:c.*1057A>T,NM_001144895:c.*1057A>T,NM_001144894:c.*1057A>T,NM_001144893:c.*1057A>T,NM_001144899:c.*1057A>T,NM_021155:c.*1057A>T) chr19 7806868 7806868 T A het . 4 +intronic CD209 chr19 7808163 7808163 G C het . 5 +intronic CD209 chr19 7810006 7810006 G A het . 8 +intronic CD209 chr19 7812181 7812181 G C het . 15 +upstream CD209(dist=72) chr19 7812536 7812536 A G het . 2 +intergenic CD209(dist=3123),CLEC4M(dist=12448) chr19 7815587 7815587 G C het . 3 +intergenic CD209(dist=3257),CLEC4M(dist=12314) chr19 7815721 7815721 G A het . 12 +intronic CLEC4M chr19 7831429 7831429 C G het . 2 +intronic CLEC4M chr19 7831700 7831700 G C het . 13 +UTR3 CLEC4M(NM_001144908:c.*114T>A,NM_001144907:c.*2T>A,NM_001144911:c.*114T>A,NM_001144910:c.*2T>A,NM_001144909:c.*2T>A,NM_001144904:c.*2T>A,NM_001144906:c.*2T>A,NM_014257:c.*2T>A,NM_001144905:c.*2T>A) chr19 7833876 7833876 T A het . 13 +UTR3 CLEC4M(NM_001144908:c.*178G>A,NM_001144907:c.*66G>A,NM_001144911:c.*178G>A,NM_001144910:c.*66G>A,NM_001144909:c.*66G>A,NM_001144904:c.*66G>A,NM_001144906:c.*66G>A,NM_014257:c.*66G>A,NM_001144905:c.*66G>A) chr19 7833940 7833940 G A het . 5 +intergenic CLEC4M(dist=3590),CLEC4GP1(dist=14289) chr19 7838081 7838081 A G het . 2 +ncRNA_intronic CLEC4GP1 chr19 7853086 7853086 A C het . 2 +ncRNA_exonic CLEC4GP1 chr19 7853275 7853275 G A het . 4 +ncRNA_intronic CLEC4GP1 chr19 7853369 7853369 T G het . 5 +ncRNA_intronic CLEC4GP1 chr19 7853486 7853486 G A het . 14 +ncRNA_exonic CLEC4GP1 chr19 7853716 7853716 C G het . 10 +intergenic CLEC4GP1(dist=7084),EVI5L(dist=32179) chr19 7862982 7862982 G A het . 1 +intergenic CLEC4GP1(dist=8872),EVI5L(dist=30391) chr19 7864770 7864770 T G het . 4 +intergenic CLEC4GP1(dist=23428),EVI5L(dist=15835) chr19 7879326 7879326 G A het . 4 +intronic EVI5L chr19 7918103 7918103 A G het . 20 +intronic EVI5L chr19 7926938 7926938 C - het . 8 +exonic EVI5L chr19 7928462 7928462 T C het . 7 +ncRNA_exonic LYPLA2P2 chr19 7944349 7944349 C - het . 19 +intronic LRRC8E chr19 7962203 7962203 T C het . 2 +exonic LRRC8E chr19 7963914 7963914 A C het . 19 +exonic LRRC8E chr19 7963949 7963949 A G het . 16 +exonic LRRC8E chr19 7963976 7963976 T C het . 9 +exonic LRRC8E chr19 7964727 7964727 G A het . 16 +exonic LRRC8E chr19 7965339 7965339 C T het . 17 +intronic MAP2K7 chr19 7970635 7970635 A G het . 8 +intronic MAP2K7 chr19 7973730 7973730 G A het . 3 +exonic MAP2K7 chr19 7975183 7975183 C T het . 19 +intronic MAP2K7 chr19 7975464 7975464 A C het . 3 +intronic MAP2K7 chr19 7976529 7976529 T C het . 6 +exonic SNAPC2 chr19 7986638 7986638 C G het . 10 +upstream;downstream CTXN1(dist=210);TIMM44(dist=342) chr19 7991261 7991261 G A het . 3 +intronic TIMM44 chr19 7995988 7995988 A - het . 18 +intronic TIMM44 chr19 7997676 7997676 G A het . 13 +intronic TIMM44 chr19 8000104 8000104 A G het . 20 +intronic ELAVL1 chr19 8056816 8056816 - T het . 3 +intergenic ELAVL1(dist=21610),CCL25(dist=25507) chr19 8092139 8092139 C A het . 4 +intergenic ELAVL1(dist=45707),CCL25(dist=1410) chr19 8116236 8116236 A G het . 2 +intergenic ELAVL1(dist=45714),CCL25(dist=1403) chr19 8116243 8116243 C T het . 2 +exonic CCL25 chr19 8121360 8121360 A G het . 13 +exonic CCL25 chr19 8122737 8122737 G A het . 20 +exonic CCL25 chr19 8122767 8122767 T C het . 20 +intronic CCL25 chr19 8127075 8127075 C G het . 19 +downstream FBN3(dist=190) chr19 8130095 8130096 CC AT het . 3 +downstream FBN3(dist=186) chr19 8130100 8130100 C T het . 3 +exonic FBN3 chr19 8136973 8136974 GG AA het . 7 +intronic FBN3 chr19 8137102 8137102 G T het . 2 +intronic FBN3 chr19 8146013 8146013 G A het . 7 +intronic FBN3 chr19 8147244 8147245 TT - het . 3 +exonic FBN3 chr19 8152725 8152725 A G het . 13 +exonic FBN3 chr19 8154990 8154990 C T het . 2 +intronic FBN3 chr19 8158678 8158680 AAC - het . 3 +exonic FBN3 chr19 8159362 8159362 G T het . 17 +exonic FBN3 chr19 8159409 8159409 G T het . 18 +exonic FBN3 chr19 8160334 8160334 G A het . 12 +intronic FBN3 chr19 8160812 8160812 C T het . 10 +intronic FBN3 chr19 8161126 8161126 A G het . 2 +intronic FBN3 chr19 8162121 8162121 C T het . 4 +intronic FBN3 chr19 8165868 8165868 G A het . 5 +intronic FBN3 chr19 8167830 8167830 A G het . 4 +exonic FBN3 chr19 8168545 8168545 C T het . 17 +intronic FBN3 chr19 8169144 8169144 T C het . 2 +intronic FBN3 chr19 8174650 8174650 A G het . 2 +intronic FBN3 chr19 8176458 8176458 A G het . 8 +intronic FBN3 chr19 8176463 8176463 A G het . 7 +exonic FBN3 chr19 8176890 8176890 C G het . 11 +exonic FBN3 chr19 8176919 8176919 C T het . 13 +exonic FBN3 chr19 8176945 8176945 T C het . 8 +intronic FBN3 chr19 8181483 8181483 C T het . 5 +exonic FBN3 chr19 8182174 8182174 G A het . 6 +intronic FBN3 chr19 8188935 8188935 G A het . 4 +exonic FBN3 chr19 8191184 8191184 C T het . 14 +intronic FBN3 chr19 8191238 8191238 C T het . 8 +intronic FBN3 chr19 8191248 8191248 A G het . 8 +intronic FBN3 chr19 8191323 8191323 T C het . 6 +exonic FBN3 chr19 8191401 8191401 G A het . 14 +intronic FBN3 chr19 8194363 8194363 T G het . 3 +exonic FBN3 chr19 8196444 8196444 C T het . 3 +exonic FBN3 chr19 8196508 8196508 G C het . 6 +intronic FBN3 chr19 8197786 8197786 G A het . 2 +intronic FBN3 chr19 8197865 8197865 C T het . 10 +intronic FBN3 chr19 8200759 8200759 G T het . 4 +intronic FBN3 chr19 8201051 8201051 T C het . 6 +intronic FBN3 chr19 8201250 8201250 C G het . 4 +exonic FBN3 chr19 8201286 8201286 C T het . 7 +intronic FBN3 chr19 8209926 8209926 T C het . 9 +intronic FBN3 chr19 8209981 8209981 A G het . 3 +intronic FBN3 chr19 8210055 8210055 C T het . 2 +upstream FBN3(dist=781) chr19 8215511 8215511 C T het . 5 +intergenic FBN3(dist=5503),CERS4(dist=53984) chr19 8220233 8220233 T C het . 2 +intergenic FBN3(dist=5927),CERS4(dist=53549) chr19 8220657 8220668 TCTTTCTTTCTT - het . 4 +intergenic FBN3(dist=18004),CERS4(dist=41483) chr19 8232734 8232734 C T het . 2 +intergenic FBN3(dist=38426),CERS4(dist=21061) chr19 8253156 8253156 A G het . 4 +intergenic FBN3(dist=38746),CERS4(dist=20741) chr19 8253476 8253476 A G het . 2 +intergenic FBN3(dist=43034),CERS4(dist=16453) chr19 8257764 8257764 C A het . 2 +intergenic FBN3(dist=43622),CERS4(dist=15864) chr19 8258352 8258353 TT - het . 2 +intergenic FBN3(dist=43629),CERS4(dist=15858) chr19 8258359 8258359 T G het . 2 +intronic CERS4 chr19 8291672 8291672 T G het . 2 +intronic CERS4 chr19 8310061 8310061 C A het . 2 +intronic CERS4 chr19 8310983 8310983 C A het . 1 +intronic CERS4 chr19 8311095 8311095 G A het . 2 +intronic CERS4 chr19 8311627 8311627 T C het . 2 +intronic CERS4 chr19 8314458 8314458 A G het . 2 +intronic CERS4 chr19 8315847 8315847 A G het . 2 +intronic CERS4 chr19 8320657 8320666 GGGGCGGGGC - het . 5 +intronic CERS4 chr19 8320890 8320890 T G het . 3 +intergenic CERS4(dist=1551),CD320(dist=38156) chr19 8328855 8328855 A G het . 2 +intergenic CERS4(dist=7134),CD320(dist=32573) chr19 8334438 8334438 A T het . 3 +intronic CD320 chr19 8367504 8367504 T A het . 8 +upstream NDUFA7,RPS28(dist=17) chr19 8386367 8386367 C T het . 5 +intergenic KANK3(dist=1111),ANGPTL4(dist=19754) chr19 8409257 8409257 T C het . 3 +intergenic KANK3(dist=3997),ANGPTL4(dist=16868) chr19 8412143 8412143 T C het . 3 +intergenic KANK3(dist=4023),ANGPTL4(dist=16842) chr19 8412169 8412169 T G het . 2 +intergenic KANK3(dist=4031),ANGPTL4(dist=16834) chr19 8412177 8412177 G A het . 1 +intergenic KANK3(dist=4270),ANGPTL4(dist=16595) chr19 8412416 8412416 A G het . 8 +intergenic KANK3(dist=4358),ANGPTL4(dist=16507) chr19 8412504 8412504 A - het . 18 +intergenic KANK3(dist=17236),ANGPTL4(dist=3629) chr19 8425382 8425382 G A het . 2 +intronic ANGPTL4 chr19 8434055 8434055 C T het . 9 +exonic ANGPTL4 chr19 8436164 8436164 C T het . 18 +ncRNA_intronic RAB11B-AS1 chr19 8440724 8440724 A G het . 2 +intronic RAB11B chr19 8465991 8465991 G A het . 2 +intronic RAB11B chr19 8467574 8467574 T G het . 3 +intergenic RAB11B(dist=1247),MARCH2(dist=7623) chr19 8470564 8470564 C T het . 2 +intronic MARCH2 chr19 8485232 8485232 T C het . 2 +intronic MARCH2 chr19 8503229 8503229 C T het . 7 +intronic HNRNPM chr19 8515676 8515676 T G het . 2 +intronic HNRNPM chr19 8528310 8528310 A G het . 9 +intronic HNRNPM chr19 8533925 8533925 A G het . 3 +intronic HNRNPM chr19 8536373 8536373 A G het . 4 +intronic HNRNPM chr19 8536532 8536532 G C het . 2 +intronic HNRNPM chr19 8538344 8538344 A - het . 4 +intronic HNRNPM chr19 8543921 8543921 G A het . 2 +intronic HNRNPM chr19 8548175 8548175 A C het . 4 +intronic HNRNPM chr19 8549217 8549217 T C het . 2 +exonic HNRNPM chr19 8551094 8551094 T C het . 14 +intronic HNRNPM chr19 8551852 8551852 A G het . 13 +exonic HNRNPM chr19 8553630 8553630 C T het . 18 +intronic PRAM1 chr19 8555886 8555886 G C het . 16 +exonic PRAM1 chr19 8563456 8563456 C G het . 5 +exonic PRAM1 chr19 8567475 8567475 T C het . 8 +intergenic PRAM1(dist=1303),ZNF414(dist=6621) chr19 8568841 8568841 C A het . 3 +UTR3 ZNF414(NM_032370:c.*49T>C) chr19 8576307 8576307 A G het . 5 +exonic ZNF414 chr19 8578118 8578118 A G het . 7 +exonic ZNF414 chr19 8578199 8578199 T C het . 7 +intergenic ZNF414(dist=1554),MYO1F(dist=5072) chr19 8580602 8580602 A G het . 3 +intronic MYO1F chr19 8589467 8589467 A - het . 2 +intronic MYO1F chr19 8601968 8601968 G C het . 10 +intronic MYO1F chr19 8610681 8610681 C T het . 9 +intronic MYO1F chr19 8637153 8637153 - T het . 2 +intronic MYO1F chr19 8642066 8642066 A C het . 4 +intronic MYO1F chr19 8642160 8642160 T C het . 25 +exonic ADAMTS10 chr19 8645786 8645786 A C het . 19 +exonic ADAMTS10 chr19 8651562 8651562 A G het . 15 +exonic ADAMTS10 chr19 8654127 8654127 G C het . 16 +exonic ADAMTS10 chr19 8656856 8656856 G A het . 11 +intronic ADAMTS10 chr19 8657871 8657871 G C het . 11 +intronic ADAMTS10 chr19 8662348 8662350 TGC - het . 6 +intronic ADAMTS10 chr19 8662350 8662350 C T het . 5 +intronic ADAMTS10 chr19 8668886 8668886 T - het . 2 +intronic ADAMTS10 chr19 8669873 8669873 T C het . 14 +exonic ADAMTS10 chr19 8669931 8669931 G C het . 10 +intergenic ADAMTS10(dist=68694),ACTL9(dist=63433) chr19 8744314 8744314 - ACAA het . 4 +intergenic ADAMTS10(dist=114857),ACTL9(dist=17269) chr19 8790477 8790478 AG - het . 2 +intergenic ADAMTS10(dist=123033),ACTL9(dist=9094) chr19 8798653 8798653 - TTCT het . 2 +exonic ACTL9 chr19 8808373 8808373 G T het . 6 +exonic ACTL9 chr19 8808900 8808900 A G het . 5 +exonic ACTL9 chr19 8808942 8808942 A G het . 4 +exonic OR2Z1 chr19 8841558 8841558 T C het . 21 +exonic OR2Z1 chr19 8841588 8841588 C G het . 11 +intergenic OR2Z1(dist=38199),ZNF558(dist=39682) chr19 8880570 8880570 T A het . 2 +intronic ZNF558 chr19 8926199 8926199 A G het . 2 +intronic ZNF558 chr19 8932092 8932092 G A het . 3 +exonic MBD3L1 chr19 8953801 8953801 T C het . 21 +downstream MUC16(dist=537) chr19 8958983 8958983 C T het . 3 +intronic MUC16 chr19 8961772 8961772 A G het . 2 +exonic MUC16 chr19 8961981 8961981 C G het . 15 +intronic MUC16 chr19 8979112 8979112 G C het . 10 +intronic MUC16 chr19 8983229 8983229 A G het . 3 +intronic MUC16 chr19 8985231 8985231 T C het . 2 +intronic MUC16 chr19 8987133 8987133 T C het . 14 +exonic MUC16 chr19 8987218 8987218 G T het . 10 +intronic MUC16 chr19 8987348 8987348 - AG het . 5 +intronic MUC16 chr19 8988928 8988928 - T het . 2 +intronic MUC16 chr19 8994113 8994113 T C het . 10 +intronic MUC16 chr19 8994285 8994285 T A het . 4 +intronic MUC16 chr19 8994373 8994373 A G het . 12 +intronic MUC16 chr19 8996019 8996019 A T het . 6 +intronic MUC16 chr19 8997189 8997189 - GGGAGA het . 4 +intronic MUC16 chr19 8997343 8997343 C T het . 5 +exonic MUC16 chr19 8999453 8999453 C T het . 6 +intronic MUC16 chr19 9001822 9001822 A G het . 9 +exonic MUC16 chr19 9001833 9001833 A G het . 10 +exonic MUC16 chr19 9001835 9001835 G A het . 10 +intronic MUC16 chr19 9001981 9001981 T C het . 3 +intronic MUC16 chr19 9001986 9001986 C A het . 4 +intronic MUC16 chr19 9002910 9002910 A G het . 2 +intronic MUC16 chr19 9002985 9002985 C T het . 2 +intronic MUC16 chr19 9002990 9002990 C T het . 2 +intronic MUC16 chr19 9002992 9002992 T G het . 2 +intronic MUC16 chr19 9002994 9002994 T A het . 2 +intronic MUC16 chr19 9003002 9003002 C T het . 2 +intronic MUC16 chr19 9003008 9003008 G A het . 2 +intronic MUC16 chr19 9003014 9003014 A G het . 2 +intronic MUC16 chr19 9003217 9003217 - A het . 7 +exonic MUC16 chr19 9003618 9003618 C T het . 17 +intronic MUC16 chr19 9003749 9003749 G T het . 9 +intronic MUC16 chr19 9005041 9005041 T C het . 4 +intronic MUC16 chr19 9006463 9006463 C G het . 7 +exonic MUC16 chr19 9006749 9006749 C T het . 7 +exonic MUC16 chr19 9012840 9012840 G A het . 26 +exonic MUC16 chr19 9014551 9014551 T C het . 2 +intronic MUC16 chr19 9015436 9015436 - G het . 5 +intronic MUC16 chr19 9015438 9015438 A C het . 5 +intronic MUC16 chr19 9019429 9019429 T C het . 11 +exonic MUC16 chr19 9019605 9019605 C G het . 5 +exonic MUC16 chr19 9020154 9020154 A G het . 13 +intronic MUC16 chr19 9020211 9020211 C T het . 7 +exonic MUC16 chr19 9025604 9025604 A G het . 14 +exonic MUC16 chr19 9061111 9061111 T C het . 14 +exonic MUC16 chr19 9070194 9070194 A G het . 24 +exonic MUC16 chr19 9073888 9073888 C T het . 9 +intronic MUC16 chr19 9080344 9080353 AAAGAAAAGA - het . 5 +intronic MUC16 chr19 9081888 9081888 G A het . 1 +exonic MUC16 chr19 9083791 9083791 G A het . 9 +exonic MUC16 chr19 9085958 9085958 A G het . 17 +exonic MUC16 chr19 9086145 9086145 G C het . 22 +exonic MUC16 chr19 9086847 9086847 G A het . 19 +exonic MUC16 chr19 9087615 9087615 T A het . 30 +exonic MUC16 chr19 9088017 9088017 T G het . 15 +exonic MUC16 chr19 9090182 9090182 T C het . 16 +exonic MUC16 chr19 9090784 9090784 C T het . 26 +intergenic MUC16(dist=38412),OR1M1(dist=73491) chr19 9130430 9130430 A - het . 4 +intergenic MUC16(dist=102801),OR1M1(dist=9102) chr19 9194819 9194819 T C het . 2 +intergenic MUC16(dist=107999),OR1M1(dist=3904) chr19 9200017 9200017 A G het . 2 +intergenic MUC16(dist=108080),OR1M1(dist=3821) chr19 9200098 9200100 TTT - het . 4 +intergenic MUC16(dist=108126),OR1M1(dist=3777) chr19 9200144 9200144 G A het . 3 +exonic OR1M1 chr19 9204307 9204307 A G het . 13 +exonic OR7G2 chr19 9213079 9213079 A C het . 15 +exonic OR7G2 chr19 9213132 9213132 A G het . 10 +intergenic OR7G2(dist=4718),OR7G1(dist=6804) chr19 9218700 9218700 A C het . 2 +downstream OR7G1(dist=440) chr19 9225064 9225064 T C het . 2 +exonic OR7G1 chr19 9225685 9225685 T C het . 14 +exonic OR7G1 chr19 9226017 9226017 C G het . 12 +exonic OR7G1 chr19 9226192 9226192 A G het . 15 +exonic OR7G3 chr19 9236886 9236886 A G het . 18 +exonic OR7G3 chr19 9237435 9237435 A G het . 14 +upstream OR7G3(dist=94) chr19 9237720 9237727 CTTTCTTC - het . 3 +exonic ZNF317 chr19 9267319 9267319 G T het . 24 +downstream ZNF317(dist=618) chr19 9274709 9274709 G A het . 3 +intergenic ZNF317(dist=19691),OR7D2(dist=2488) chr19 9293782 9293782 G C het . 7 +intergenic OR7D2(dist=16470),OR7D4(dist=8563) chr19 9315963 9315963 T G het . 6 +intergenic OR7D4(dist=20880),OR7E24(dist=15293) chr19 9346427 9346427 T C het . 9 +exonic OR7E24 chr19 9362376 9362376 C T het . 18 +intronic ZNF177,ZNF559-ZNF177 chr19 9490624 9490624 C A het . 13 +exonic ZNF560 chr19 9577783 9577783 C A het . 17 +intergenic ZNF560(dist=20741),ZNF426(dist=3880) chr19 9630020 9630020 G A het . 2 +intronic ZNF121 chr19 9680420 9680420 G T het . 2 +intergenic ZNF562(dist=8552),ZNF812P(dist=5208) chr19 9794328 9794328 T C het . 8 +ncRNA_intronic ZNF812P chr19 9804539 9804539 C T het . 11 +ncRNA_intronic ZNF812P chr19 9805397 9805397 A G het . 8 +intergenic ZNF812P(dist=33321),ZNF846(dist=18293) chr19 9844773 9844773 C A het . 2 +intronic ZNF846 chr19 9885144 9885145 AA - het . 11 +intergenic LOC100505555(dist=2873),FBXL12(dist=14214) chr19 9906729 9906729 G - het . 2 +UTR3 OLFM2(NM_001304348:c.*39T>C,NM_001304347:c.*39T>C,NM_058164:c.*39T>C) chr19 9964823 9964823 A G het . 5 +exonic OLFM2 chr19 9968139 9968139 G A het . 20 +exonic OLFM2 chr19 9968434 9968434 C T het . 25 +intronic OLFM2 chr19 9983207 9983207 - G het . 2 +intronic OLFM2 chr19 9990055 9990055 C A het . 2 +intronic OLFM2 chr19 9992760 9992760 C A het . 3 +intronic OLFM2 chr19 9992775 9992775 T C het . 3 +intronic OLFM2 chr19 10000199 10000199 T C het . 2 +intronic OLFM2 chr19 10001408 10001408 T C het . 2 +UTR3 COL5A3(NM_015719:c.*24A>G) chr19 10071063 10071063 T C het . 12 +intronic COL5A3 chr19 10071256 10071256 C T het . 23 +intronic COL5A3 chr19 10090649 10090649 A G het . 2 +intronic COL5A3 chr19 10108714 10108714 G A het . 23 +intronic COL5A3 chr19 10112058 10112058 A C het . 3 +intronic COL5A3 chr19 10112148 10112148 T A het . 6 +exonic COL5A3 chr19 10112346 10112346 T C het . 8 +exonic COL5A3 chr19 10114252 10114252 C G het . 14 +exonic COL5A3 chr19 10114740 10114740 T A het . 9 +intronic COL5A3 chr19 10116703 10116703 A G het . 10 +exonic RDH8 chr19 10129552 10129552 C G het . 9 +exonic RDH8 chr19 10131999 10132000 TG CA het . 14 +intergenic RDH8(dist=1258),MIR5589(dist=14818) chr19 10134212 10134212 T G het . 2 +intergenic RDH8(dist=4769),MIR5589(dist=11307) chr19 10137723 10137723 T - het . 2 +intergenic RDH8(dist=6385),MIR5589(dist=9691) chr19 10139339 10139339 T C het . 2 +ncRNA_intronic C3P1 chr19 10157743 10157743 C T het . 5 +ncRNA_intronic C3P1 chr19 10158501 10158501 C T het . 3 +ncRNA_intronic C3P1 chr19 10165867 10165867 C T het . 11 +ncRNA_exonic C3P1 chr19 10165932 10165932 A G het . 20 +ncRNA_exonic C3P1 chr19 10166375 10166375 G A het . 10 +ncRNA_intronic C3P1 chr19 10169208 10169208 G A het . 13 +ncRNA_intronic C3P1 chr19 10169477 10169477 G A het . 16 +ncRNA_intronic C3P1 chr19 10180320 10180320 A C het . 3 +intergenic C3P1(dist=7568),C19orf66(dist=4414) chr19 10192381 10192381 G A het . 8 +intergenic C3P1(dist=8176),C19orf66(dist=3806) chr19 10192989 10192989 - CG het . 2 +intronic C19orf66 chr19 10198441 10198441 A G het . 2 +exonic C19orf66 chr19 10202973 10202973 G C het . 7 +ncRNA_exonic SNORD105 chr19 10218408 10218408 G A het . 15 +intronic PPAN,PPAN-P2RY11 chr19 10218434 10218434 C T het . 9 +exonic PPAN,PPAN-P2RY11 chr19 10218524 10218524 C G het . 5 +exonic PPAN,PPAN-P2RY11 chr19 10220614 10220614 G A het . 15 +intronic PPAN,PPAN-P2RY11 chr19 10221151 10221151 C G het . 9 +exonic P2RY11,PPAN-P2RY11 chr19 10224526 10224526 C T het . 6 +UTR3 P2RY11(NM_002566:c.*268G>C),PPAN-P2RY11(NM_001040664:c.*268G>C,NM_001198690:c.*1152G>C) chr19 10225682 10225682 G C het . 5 +UTR3 EIF3G(NM_003755:c.*13T>C),P2RY11(NM_002566:c.*363A>G),PPAN-P2RY11(NM_001040664:c.*363A>G,NM_001198690:c.*1247A>G) chr19 10225777 10225777 A G het . 5 +exonic EIF3G chr19 10226256 10226256 A G het . 4 +intronic EIF3G chr19 10226341 10226344 TGCC - het . 9 +intronic EIF3G chr19 10229297 10229297 C A het . 9 +intronic DNMT1 chr19 10251049 10251049 T - het . 11 +intronic DNMT1 chr19 10251747 10251747 A G het . 26 +intronic DNMT1 chr19 10257245 10257245 G A het . 10 +intronic DNMT1 chr19 10260007 10260007 A - het . 14 +intronic DNMT1 chr19 10260047 10260047 C A het . 8 +intronic DNMT1 chr19 10260052 10260052 C A het . 10 +intronic DNMT1 chr19 10260057 10260057 C A het . 9 +intronic DNMT1 chr19 10262277 10262277 C A het . 21 +intronic DNMT1 chr19 10265248 10265248 T C het . 17 +exonic DNMT1 chr19 10265312 10265312 T C het . 11 +exonic DNMT1 chr19 10267077 10267077 T C het . 26 +intronic DNMT1 chr19 10270747 10270747 A - het . 22 +intronic DNMT1 chr19 10273285 10273285 C A het . 29 +intronic DNMT1 chr19 10279189 10279189 T C het . 6 +intronic DNMT1 chr19 10283680 10283680 A C het . 9 +intronic DNMT1 chr19 10284778 10284778 A G het . 4 +intergenic DNMT1(dist=5170),S1PR2(dist=21127) chr19 10310981 10310982 TC - het . 2 +exonic S1PR2 chr19 10334663 10334663 T G het . 6 +intronic S1PR2 chr19 10338676 10338676 T G het . 3 +intergenic S1PR2(dist=11287),MRPL4(dist=9405) chr19 10353235 10353235 C T het . 2 +intergenic S1PR2(dist=16882),MRPL4(dist=3810) chr19 10358830 10358830 C T het . 4 +intronic ICAM1 chr19 10384604 10384604 C A het . 2 +intronic ICAM5 chr19 10402131 10402131 T C het . 4 +exonic ICAM5 chr19 10402938 10402938 G A het . 10 +exonic ICAM5 chr19 10403368 10403368 G A het . 15 +intronic ICAM5 chr19 10403947 10403947 T C het . 2 +exonic ICAM5 chr19 10404519 10404519 G A het . 25 +exonic ICAM5 chr19 10407169 10407169 G C het . 5 +intergenic ICAM5(dist=1288),ZGLP1(dist=6737) chr19 10408742 10408742 A C het . 2 +intergenic ICAM5(dist=4003),ZGLP1(dist=4022) chr19 10411457 10411457 T - het . 2 +exonic ZGLP1 chr19 10415781 10415781 T C het . 7 +intronic ZGLP1 chr19 10416444 10416444 G A het . 8 +intronic FDX2 chr19 10425986 10425986 A G het . 4 +intronic FDX2 chr19 10425995 10425995 G T het . 3 +intronic FDX2 chr19 10426512 10426512 C T het . 7 +intronic RAVER1 chr19 10441117 10441117 G A het . 7 +intronic ICAM3 chr19 10444826 10444826 G A het . 6 +exonic ICAM3 chr19 10446568 10446568 T C het . 10 +exonic ICAM3 chr19 10449358 10449358 T C het . 4 +exonic ICAM3 chr19 10449392 10449392 A G het . 7 +UTR5 ICAM3(NM_001320606:c.-196G>A) chr19 10449665 10449665 C T het . 3 +intronic TYK2 chr19 10464687 10464687 A G het . 11 +exonic TYK2 chr19 10469975 10469975 A C het . 22 +intronic TYK2 chr19 10472933 10472933 A G het . 25 +exonic TYK2 chr19 10475652 10475652 C A het . 10 +intronic TYK2 chr19 10477067 10477067 A G het . 4 +exonic PDE4A chr19 10556897 10556897 C T het . 7 +intronic PDE4A chr19 10568528 10568528 C A het . 8 +intergenic PDE4A(dist=2656),KEAP1(dist=13833) chr19 10582963 10582963 G A het . 2 +intronic KEAP1 chr19 10600318 10600318 A C het . 7 +splicing KEAP1(NM_012289:exon4:c.1531+2T>G,NM_203500:exon4:c.1531+2T>G) chr19 10600322 10600322 A C het . 8 +exonic S1PR5 chr19 10625067 10625067 A C het . 15 +exonic ATG4D chr19 10659659 10659659 C T het . 11 +intronic KRI1 chr19 10665951 10665951 G A het . 9 +intronic KRI1 chr19 10668383 10668383 T C het . 23 +exonic KRI1 chr19 10668452 10668452 A G het . 38 +intronic KRI1 chr19 10668953 10668953 G A het . 4 +intronic KRI1 chr19 10669163 10669163 G C het . 2 +exonic KRI1 chr19 10671894 10671894 T G het . 17 +exonic KRI1 chr19 10671906 10671906 T C het . 21 +exonic KRI1 chr19 10672493 10672493 C T het . 13 +intronic KRI1 chr19 10675564 10675564 C T het . 8 +exonic KRI1 chr19 10676423 10676423 G A het . 13 +exonic KRI1 chr19 10676681 10676681 T C het . 6 +exonic CDKN2D chr19 10679240 10679240 C G het . 10 +intronic AP1M2 chr19 10690557 10690557 G C het . 4 +splicing AP1M2(NM_005498:exon4:c.268-1G>T,NM_001300887:exon4:c.268-1G>T) chr19 10692555 10692555 C A het . 16 +intronic SLC44A2 chr19 10720886 10720886 A T het . 2 +intronic SLC44A2 chr19 10727626 10727626 C T het . 1 +exonic SLC44A2 chr19 10738639 10738639 C T het . 11 +intronic SLC44A2 chr19 10738836 10738836 A G het . 2 +intronic SLC44A2 chr19 10741202 10741202 G A het . 2 +intronic SLC44A2 chr19 10741681 10741681 - A het . 12 +intronic SLC44A2 chr19 10741907 10741907 A G het . 8 +exonic SLC44A2 chr19 10742170 10742170 A G het . 18 +intronic SLC44A2 chr19 10742287 10742287 C T het . 11 +intronic SLC44A2 chr19 10742443 10742443 C T het . 15 +intronic SLC44A2 chr19 10742463 10742463 G T het . 16 +intronic SLC44A2 chr19 10745764 10745764 T C het . 15 +intronic SLC44A2 chr19 10748820 10748820 T C het . 16 +intronic SLC44A2 chr19 10751769 10751769 - A het . 7 +intronic SLC44A2 chr19 10752968 10752968 A G het . 9 +intronic ILF3 chr19 10765819 10765819 C T het . 2 +intronic ILF3 chr19 10766798 10766798 A C het . 2 +intronic ILF3 chr19 10787744 10787744 C G het . 13 +intronic ILF3 chr19 10793749 10793749 A G het . 6 +exonic ILF3 chr19 10794630 10794630 G T het . 17 +intronic ILF3 chr19 10798904 10798904 G A het . 2 +intronic QTRT1 chr19 10818092 10818092 G A het . 3 +intronic QTRT1 chr19 10818513 10818513 T - het . 2 +intronic DNM2 chr19 10847298 10847298 G T het . 2 +intronic DNM2 chr19 10883126 10883126 C G het . 25 +intronic DNM2 chr19 10897399 10897401 CCA - het . 12 +intronic DNM2 chr19 10916729 10916729 C G het . 2 +UTR3 TMED1(NM_006858:c.*768G>A) chr19 10942903 10942903 C T het . 11 +exonic C19orf38 chr19 10961024 10961024 C G het . 2 +intronic C19orf38 chr19 10970558 10970558 A G het . 15 +intergenic TIMM29(dist=6851),SMARCA4(dist=23817) chr19 11047781 11047781 T G het . 2 +exonic SMARCA4 chr19 11105608 11105608 T C het . 24 +intronic SMARCA4 chr19 11106790 11106790 T C het . 6 +intronic SMARCA4 chr19 11107133 11107133 T C het . 30 +intronic SMARCA4 chr19 11113902 11113902 G A het . 24 +intronic SMARCA4 chr19 11114206 11114206 C T het . 6 +intronic SMARCA4 chr19 11121225 11121225 G C het . 15 +intronic SMARCA4 chr19 11134090 11134090 A G het . 7 +intronic SMARCA4 chr19 11136215 11136215 C G het . 21 +intronic SMARCA4 chr19 11144302 11144302 C A het . 19 +intronic SMARCA4 chr19 11144754 11144754 A C het . 19 +intronic SMARCA4 chr19 11168896 11168896 A G het . 17 +exonic SMARCA4 chr19 11169514 11169514 C T het . 22 +exonic SMARCA4 chr19 11170839 11170839 T C het . 36 +intronic SMARCA4 chr19 11172299 11172299 G A het . 2 +intronic LDLR chr19 11221454 11221454 T C het . 18 +intronic LDLR chr19 11221457 11221457 G C het . 17 +intronic LDLR chr19 11221926 11221926 A - het . 6 +ncRNA_exonic MIR6886 chr19 11224181 11224181 C T het . 21 +exonic LDLR chr19 11224265 11224265 A G het . 22 +intronic LDLR chr19 11227480 11227480 A C het . 9 +exonic LDLR chr19 11227602 11227602 C T het . 42 +intronic LDLR chr19 11230645 11230645 T C het . 16 +intronic LDLR chr19 11230651 11230654 AAAC - het . 16 +exonic LDLR chr19 11230881 11230881 T C het . 28 +exonic LDLR chr19 11233941 11233941 A G het . 24 +intronic LDLR chr19 11238492 11238492 A G het . 3 +intronic LDLR chr19 11238548 11238548 A G het . 5 +intronic LDLR chr19 11238807 11238807 C T het . 9 +intronic LDLR chr19 11241780 11241780 G A het . 9 +intronic LDLR chr19 11241810 11241810 G A het . 13 +intronic LDLR chr19 11241877 11241877 G A het . 15 +intronic LDLR chr19 11241915 11241915 A G het . 26 +UTR3 LDLR(NM_001195800:c.*52G>A,NM_001195798:c.*52G>A,NM_001195799:c.*52G>A,NM_001195803:c.*52G>A,NM_000527:c.*52G>A) chr19 11242044 11242044 G A het . 22 +UTR3 LDLR(NM_001195800:c.*315G>C,NM_001195798:c.*315G>C,NM_001195799:c.*315G>C,NM_001195803:c.*315G>C,NM_000527:c.*315G>C) chr19 11242307 11242307 G C het . 4 +intergenic LDLR(dist=9382),SPC24(dist=2283) chr19 11253887 11253887 A - het . 2 +intergenic SPC24(dist=2068),KANK2(dist=6387) chr19 11268556 11268556 G A het . 2 +intergenic SPC24(dist=7115),KANK2(dist=1340) chr19 11273603 11273603 T G het . 2 +UTR3 KANK2(NM_001329451:c.*2C>T,NM_015493:c.*2C>T,NM_001136191:c.*2C>T) chr19 11277232 11277232 G A het . 12 +intronic KANK2 chr19 11289826 11289826 C T het . 2 +ncRNA_intronic LOC105372273 chr19 11314808 11314820 TGGGGATGAGGAG - het . 5 +exonic DOCK6 chr19 11319491 11319491 G A het . 12 +ncRNA_intronic LOC105372273 chr19 11324890 11324890 T C het . 2 +exonic DOCK6 chr19 11326119 11326119 A G het . 11 +exonic DOCK6 chr19 11326125 11326125 C T het . 11 +ncRNA_intronic LOC105372273 chr19 11326629 11326629 C A het . 10 +intronic DOCK6 chr19 11327571 11327571 C T het . 10 +exonic DOCK6 chr19 11327608 11327608 T C het . 17 +exonic DOCK6 chr19 11327626 11327626 A G het . 16 +exonic DOCK6 chr19 11358799 11358799 G A het . 12 +intronic DOCK6 chr19 11363146 11363146 A T het . 5 +intronic DOCK6 chr19 11370113 11370113 A G het . 3 +intergenic DOCK6(dist=7127),TSPAN16(dist=26520) chr19 11380295 11380295 A G het . 2 +intergenic DOCK6(dist=18126),TSPAN16(dist=15521) chr19 11391294 11391294 T C het . 3 +intergenic DOCK6(dist=18135),TSPAN16(dist=15508) chr19 11391303 11391307 ACCTG - het . 2 +intronic RAB3D,TSPAN16 chr19 11436302 11436302 - G het . 6 +intronic RAB3D chr19 11446520 11446520 T G het . 4 +exonic CCDC159 chr19 11465316 11465316 G C het . 16 +intergenic EPOR(dist=7628),RGL3(dist=2086) chr19 11502646 11502646 G A het . 3 +intronic RGL3 chr19 11512373 11512373 A G het . 2 +intronic RGL3 chr19 11512969 11512969 C - het . 6 +exonic RGL3 chr19 11516007 11516007 T G het . 12 +exonic RGL3 chr19 11526759 11526759 G A het . 2 +intronic CCDC151 chr19 11534504 11534504 G - het . 3 +intronic CCDC151 chr19 11541712 11541712 T C het . 8 +intronic PRKCSH chr19 11547023 11547025 TCC - het . 21 +intronic PRKCSH chr19 11558240 11558240 T C het . 26 +exonic PRKCSH chr19 11558275 11558275 G A het . 31 +exonic PRKCSH chr19 11558341 11558343 GAG - het . 6 +intronic CNN1 chr19 11659710 11659710 C A het . 2 +intronic CNN1 chr19 11659930 11659930 A G het . 2 +upstream ELOF1(dist=181) chr19 11670232 11670232 G A het . 3 +intergenic ELOF1(dist=3774),ACP5(dist=11650) chr19 11673825 11673825 T - het . 4 +intergenic ELOF1(dist=8087),ACP5(dist=7337) chr19 11678138 11678138 C A het . 2 +intergenic ZNF627(dist=30138),ZNF833P(dist=24701) chr19 11760112 11760112 C A het . 3 +intergenic ZNF627(dist=33269),ZNF833P(dist=21570) chr19 11763243 11763243 C A het . 7 +intergenic ZNF823(dist=20710),ZNF441(dist=7281) chr19 11870534 11870534 T C het . 2 +intergenic ZNF823(dist=20737),ZNF441(dist=7254) chr19 11870561 11870561 T C het . 2 +intergenic ZNF823(dist=20893),ZNF441(dist=7098) chr19 11870717 11870717 A T het . 4 +intergenic ZNF823(dist=20896),ZNF441(dist=7094) chr19 11870720 11870721 AA GT het . 4 +intergenic ZNF823(dist=21539),ZNF441(dist=6452) chr19 11871363 11871363 T - het . 4 +intronic ZNF441 chr19 11878095 11878095 T G het . 6 +intronic ZNF441 chr19 11887816 11887816 T C het . 2 +exonic ZNF441 chr19 11890921 11890921 C T het . 19 +exonic ZNF441 chr19 11891003 11891003 G A het . 23 +exonic ZNF441 chr19 11891234 11891234 A G het . 26 +exonic ZNF440 chr19 11943697 11943697 G A het . 9 +intronic ZNF69 chr19 12014355 12014355 C G het . 6 +intronic ZNF700 chr19 12046447 12046447 T A het . 1 +intronic ZNF700 chr19 12048304 12048305 CC - het . 2 +intronic ZNF700 chr19 12048307 12048307 T C het . 2 +intronic ZNF700 chr19 12055555 12055555 A G het . 7 +intronic ZNF700 chr19 12057916 12057916 A G het . 4 +intronic ZNF700 chr19 12058536 12058536 C T het . 5 +exonic ZNF700 chr19 12059467 12059467 C G het . 11 +intergenic ZNF700(dist=8388),ZNF763(dist=5893) chr19 12069976 12069976 T G het . 2 +upstream ZNF763(dist=431) chr19 12075438 12075438 C T het . 2 +intronic ZNF763 chr19 12076060 12076060 G C het . 10 +intronic ZNF763 chr19 12076171 12076171 C T het . 3 +intronic ZNF763 chr19 12079240 12079240 A G het . 2 +exonic ZNF763 chr19 12089903 12089903 G A het . 14 +UTR3 ZNF763(NM_001012753:c.*130G>A) chr19 12090054 12090054 G A het . 11 +UTR3 ZNF763(NM_001012753:c.*226G>A) chr19 12090150 12090150 G A het . 9 +UTR3 ZNF763(NM_001012753:c.*388C>A) chr19 12090312 12090312 C A het . 16 +ncRNA_intronic ZNF433-AS1 chr19 12132982 12132982 T C het . 5 +ncRNA_intronic ZNF433-AS1 chr19 12145646 12145646 T - het . 23 +ncRNA_exonic ZNF433-AS1 chr19 12146370 12146370 T C het . 15 +intronic ZNF878 chr19 12157253 12157253 G A het . 13 +intronic ZNF878 chr19 12157334 12157334 T G het . 14 +intronic ZNF878 chr19 12162712 12162712 G A het . 2 +intergenic ZNF878(dist=6278),ZNF844(dist=5454) chr19 12170060 12170060 - TTTG het . 5 +intronic ZNF844 chr19 12185102 12185102 G A het . 10 +exonic ZNF844 chr19 12186148 12186148 T C het . 12 +exonic ZNF844 chr19 12186732 12186732 A G het . 14 +exonic ZNF844 chr19 12186761 12186761 A G het . 14 +exonic ZNF844 chr19 12186857 12186857 G C het . 18 +exonic ZNF844 chr19 12186921 12186922 TG CT het . 27 +exonic ZNF844 chr19 12187210 12187210 A G het . 8 +exonic ZNF844 chr19 12187861 12187861 T G het . 15 +UTR3 ZNF844(NM_001136501:c.*330A>G) chr19 12188266 12188266 A G het . 12 +UTR3 ZNF844(NM_001136501:c.*381G>A) chr19 12188317 12188317 G A het . 7 +intergenic ZNF844(dist=1076),ZNF788P(dist=13371) chr19 12189707 12189707 T C het . 2 +exonic ZNF788P chr19 12222381 12222381 C G het . 12 +exonic ZNF788P chr19 12223964 12223964 C A het . 24 +UTR3 ZNF788P(NM_001348164:c.*289C>G,NM_001348163:c.*289C>G,NM_001348165:c.*289C>G) chr19 12224499 12224499 C G het . 9 +exonic ZNF625 chr19 12256358 12256358 T G het . 13 +exonic ZNF625 chr19 12257014 12257014 C A het . 17 +intergenic ZNF442(dist=7972),ZNF799(dist=16359) chr19 12484469 12484469 G A het . 8 +intergenic ZNF442(dist=14806),ZNF799(dist=9523) chr19 12491303 12491305 TTC - het . 10 +intergenic ZNF442(dist=15001),ZNF799(dist=9330) chr19 12491498 12491498 C T het . 18 +intergenic ZNF442(dist=15157),ZNF799(dist=9174) chr19 12491654 12491654 C T het . 11 +intergenic ZNF442(dist=15282),ZNF799(dist=9049) chr19 12491779 12491779 T C het . 25 +intergenic ZNF442(dist=15452),ZNF799(dist=8879) chr19 12491949 12491949 T C het . 17 +intergenic ZNF442(dist=15458),ZNF799(dist=8873) chr19 12491955 12491955 A C het . 15 +intergenic ZNF442(dist=18115),ZNF799(dist=6216) chr19 12494612 12494612 T C het . 2 +intergenic ZNF442(dist=18124),ZNF799(dist=6207) chr19 12494621 12494621 A G het . 2 +exonic ZNF799 chr19 12502457 12502457 A G het . 9 +intronic ZNF799 chr19 12511862 12511862 C A het . 18 +intergenic ZNF799(dist=23454),ZNF443(dist=4978) chr19 12535542 12535542 A G het . 2 +exonic ZNF443 chr19 12541532 12541532 C A het . 40 +exonic ZNF443 chr19 12541547 12541547 T G het . 35 +intronic ZNF443 chr19 12551616 12551616 C G het . 11 +intronic ZNF443 chr19 12551715 12551715 A C het . 16 +exonic ZNF709 chr19 12576049 12576049 G A het . 21 +intronic ZNF709 chr19 12577008 12577008 G A het . 5 +intronic ZNF709 chr19 12577723 12577723 A T het . 3 +intronic ZNF709 chr19 12590360 12590360 - T het . 3 +intergenic ZNF709(dist=23298),ZNF564(dist=17254) chr19 12618930 12618930 T G het . 12 +intergenic ZNF709(dist=32108),ZNF564(dist=8444) chr19 12627740 12627740 T C het . 2 +intergenic ZNF709(dist=33991),ZNF564(dist=6561) chr19 12629623 12629623 G A het . 1 +intronic ZNF564 chr19 12638887 12638887 T C het . 3 +intronic ZNF564 chr19 12661335 12661335 C T het . 6 +intronic ZNF564 chr19 12661922 12661922 A G het . 2 +intergenic ZNF564(dist=2776),ZNF490(dist=21788) chr19 12665132 12665132 G T het . 2 +UTR3 ZNF490(NM_020714:c.*114G>A) chr19 12691185 12691185 C T het . 2 +exonic ZNF490 chr19 12692001 12692001 G A het . 13 +intronic ZNF490 chr19 12707904 12707904 T C het . 8 +intronic ZNF490 chr19 12707978 12707978 G A het . 15 +intronic ZNF490 chr19 12720024 12720024 G A het . 16 +intergenic ZNF791(dist=13328),MAN2B1(dist=3318) chr19 12754004 12754004 T - het . 13 +intergenic ZNF791(dist=14086),MAN2B1(dist=2560) chr19 12754762 12754762 T C het . 33 +intergenic ZNF791(dist=14098),MAN2B1(dist=2548) chr19 12754774 12754774 - CT het . 27 +intergenic ZNF791(dist=14101),MAN2B1(dist=2544) chr19 12754777 12754778 AT - het . 28 +intergenic ZNF791(dist=14222),MAN2B1(dist=2424) chr19 12754898 12754898 C T het . 4 +intronic MAN2B1 chr19 12768391 12768391 G A het . 19 +intronic MAN2B1 chr19 12768843 12768843 G T het . 19 +exonic MAN2B1 chr19 12772090 12772090 C T het . 24 +exonic MAN2B1 chr19 12772165 12772165 G A het . 17 +intronic MAN2B1 chr19 12772263 12772263 T C het . 3 +exonic MAN2B1 chr19 12774208 12774208 G C het . 13 +intronic MAN2B1 chr19 12774862 12774862 G A het . 2 +exonic MAN2B1 chr19 12776609 12776609 G A het . 32 +intronic DHPS chr19 12790254 12790254 C T het . 12 +intronic FBXW9 chr19 12802153 12802153 C A het . 7 +exonic TNPO2 chr19 12812587 12812587 G A het . 15 +intronic TRIR chr19 12845109 12845109 A C het . 2 +intronic TRIR chr19 12845115 12845115 A C het . 2 +exonic HOOK2 chr19 12876964 12876964 G C het . 6 +intronic HOOK2 chr19 12880901 12880901 G A het . 4 +intergenic PRDX2(dist=3042),RNASEH2A(dist=1662) chr19 12915766 12915766 C A het . 3 +UTR5 RNASEH2A(NM_006397:c.-16T>C) chr19 12917472 12917472 T C het . 22 +intronic MAST1 chr19 12951254 12951254 C A het . 14 +intronic GCDH chr19 13002033 13002033 A G het . 5 +intronic GCDH chr19 13002400 13002400 G C het . 17 +intronic GCDH chr19 13002563 13002563 T G het . 9 +intronic GCDH chr19 13006685 13006685 T C het . 8 +intronic GCDH chr19 13006687 13006687 G A het . 8 +exonic GCDH chr19 13008607 13008607 G T het . 28 +exonic GCDH chr19 13010520 13010520 A G het . 17 +UTR3 GCDH(NM_013976:c.*86G>T,NM_000159:c.*288G>T) chr19 13010643 13010643 G T het . 7 +exonic FARSA chr19 13035006 13035006 G A het . 15 +intronic FARSA chr19 13039284 13039284 A G het . 13 +UTR3 CALR(NM_004343:c.*54G>T) chr19 13054781 13054781 G T het . 14 +exonic RAD23A chr19 13059349 13059349 A C het . 6 +intergenic GADD45GIP1(dist=7097),DAND5(dist=5267) chr19 13075165 13075165 T C het . 2 +intronic NACC1 chr19 13234887 13234887 G A het . 2 +intergenic NACC1(dist=1197),STX10(dist=1714) chr19 13253158 13253158 A G het . 2 +intergenic IER2(dist=14765),CACNA1A(dist=36773) chr19 13280483 13280483 A G het . 2 +exonic CACNA1A chr19 13318673 13318675 CTG - het . 5 +intronic CACNA1A chr19 13328049 13328050 AG - het . 2 +intronic CACNA1A chr19 13338181 13338183 AAG - het . 8 +intronic CACNA1A chr19 13345251 13345251 A T het . 2 +intronic CACNA1A chr19 13352389 13352389 T G het . 3 +intronic CACNA1A chr19 13355633 13355633 T C het . 2 +intronic CACNA1A chr19 13355900 13355900 T G het . 2 +intronic CACNA1A chr19 13361618 13361618 T G het . 2 +intronic CACNA1A chr19 13368031 13368031 T C het . 3 +intronic CACNA1A chr19 13373477 13373477 A G het . 3 +intronic CACNA1A chr19 13373525 13373525 A C het . 10 +intronic CACNA1A chr19 13411482 13411482 G A het . 17 +intronic CACNA1A chr19 13443770 13443770 T C het . 5 +intronic CACNA1A chr19 13445144 13445144 C T het . 7 +exonic CACNA1A chr19 13445208 13445208 C T het . 17 +intronic CACNA1A chr19 13445375 13445375 T G het . 8 +intronic CACNA1A chr19 13476394 13476394 T C het . 1 +intronic CACNA1A chr19 13526338 13526338 C G het . 2 +intronic CACNA1A chr19 13590331 13590331 T C het . 3 +intronic CACNA1A chr19 13616693 13616693 C T het . 11 +intergenic CACNA1A(dist=58617),CCDC130(dist=166680) chr19 13675891 13675894 AACA - het . 2 +intergenic CACNA1A(dist=58727),CCDC130(dist=166573) chr19 13676001 13676001 C T het . 4 +intergenic CACNA1A(dist=59790),CCDC130(dist=165510) chr19 13677064 13677064 G A het . 2 +intergenic CACNA1A(dist=79463),CCDC130(dist=145837) chr19 13696737 13696737 G A het . 2 +intergenic CACNA1A(dist=84203),CCDC130(dist=141097) chr19 13701477 13701477 G A het . 4 +intergenic CACNA1A(dist=86280),CCDC130(dist=139020) chr19 13703554 13703554 G A het . 2 +intergenic CACNA1A(dist=89756),CCDC130(dist=135544) chr19 13707030 13707030 T C het . 2 +intergenic CACNA1A(dist=92074),CCDC130(dist=133225) chr19 13709348 13709349 AG GA het . 1 +intergenic CACNA1A(dist=133037),CCDC130(dist=92263) chr19 13750311 13750311 G A het . 2 +intergenic CACNA1A(dist=153456),CCDC130(dist=71844) chr19 13770730 13770730 C T het . 2 +intergenic CACNA1A(dist=218707),CCDC130(dist=6593) chr19 13835981 13835981 G A het . 2 +intronic CCDC130 chr19 13847590 13847590 C A het . 2 +intronic CCDC130 chr19 13849802 13849802 C T het . 2 +intronic CCDC130 chr19 13861139 13861139 T C het . 2 +intronic CCDC130 chr19 13865275 13865276 AT TC het . 13 +intronic CCDC130 chr19 13868669 13868669 G A het . 11 +exonic C19orf53 chr19 13885309 13885309 C T het . 16 +intronic C19orf53 chr19 13885437 13885437 C A het . 16 +exonic C19orf53 chr19 13885484 13885484 A G het . 14 +intergenic C19orf53(dist=1472),ZSWIM4(dist=15216) chr19 13891058 13891058 T C het . 3 +intergenic C19orf53(dist=9456),ZSWIM4(dist=7227) chr19 13899042 13899047 TTTTTT - het . 4 +intergenic C19orf53(dist=10394),ZSWIM4(dist=6294) chr19 13899980 13899980 A T het . 8 +intergenic C19orf53(dist=10618),ZSWIM4(dist=6070) chr19 13900204 13900204 A - het . 3 +upstream NANOS3(dist=23) chr19 13988040 13988040 C T het . 4 +exonic NANOS3 chr19 13988416 13988416 A G het . 15 +exonic C19orf57 chr19 14000170 14000170 T C het . 11 +exonic C19orf57 chr19 14000400 14000400 A G het . 3 +intronic C19orf57 chr19 14003896 14003896 C T het . 8 +exonic C19orf57 chr19 14015711 14015711 C A het . 15 +intronic CC2D1A chr19 14020573 14020573 T C het . 8 +intronic CC2D1A chr19 14023495 14023495 T C het . 4 +exonic CC2D1A chr19 14030689 14030689 T C het . 13 +intronic CC2D1A chr19 14037768 14037768 C T het . 5 +intronic CC2D1A chr19 14038102 14038102 G A het . 6 +intronic CC2D1A chr19 14038590 14038590 A G het . 3 +exonic PODNL1 chr19 14044052 14044052 C T het . 10 +intronic DCAF15 chr19 14065074 14065074 G A het . 4 +exonic DCAF15 chr19 14065341 14065341 T C het . 10 +intronic DCAF15 chr19 14065488 14065488 A G het . 9 +intronic DCAF15 chr19 14065534 14065534 A C het . 4 +exonic RFX1 chr19 14083761 14083761 T C het . 13 +UTR5 RLN3(NM_001311197:c.-13A>G,NM_080864:c.-13A>G) chr19 14139004 14139004 A G het . 3 +exonic C19orf67 chr19 14196335 14196335 G A het . 11 +UTR3 SAMD1(NM_138352:c.*65C>T) chr19 14199164 14199164 G A het . 2 +intronic ADGRL1 chr19 14294289 14294289 C - het . 2 +intronic ADGRL1 chr19 14305693 14305693 T - het . 2 +intergenic ADGRL1(dist=51726),LINC01841(dist=47547) chr19 14368723 14368723 C T het . 2 +intergenic ADGRL1(dist=52319),LINC01841(dist=46954) chr19 14369316 14369316 C T het . 2 +intergenic ADGRL1(dist=55318),LINC01841(dist=43955) chr19 14372315 14372315 G C het . 2 +intergenic ADGRL1(dist=97493),LINC01841(dist=1780) chr19 14414490 14414490 C T het . 2 +ncRNA_intronic LINC01841 chr19 14423299 14423299 G A het . 3 +ncRNA_intronic LINC01841 chr19 14473469 14473469 A G het . 2 +intronic ADGRE5 chr19 14493302 14493302 G A het . 3 +intronic ADGRE5 chr19 14497609 14497609 T C het . 2 +intronic ADGRE5 chr19 14499410 14499410 G C het . 3 +intronic ADGRE5 chr19 14508964 14508964 T C het . 5 +intronic ADGRE5 chr19 14513374 14513374 A G het . 11 +exonic PKN1 chr19 14561722 14561722 A G het . 5 +intronic PKN1 chr19 14580635 14580635 G A het . 12 +intronic PKN1 chr19 14580638 14580638 T C het . 11 +intronic PKN1 chr19 14580662 14580662 G A het . 5 +exonic GIPC1 chr19 14590279 14590279 G C het . 4 +UTR5 GIPC1(NM_005716:c.-13066_-13068delCGG,NM_202494:c.-15267_-15269delCGG,NM_202470:c.-13066_-13068delCGG,NM_202469:c.-15267_-15269delCGG,NM_202468:c.-13066_-13068delCGG) chr19 14606854 14606856 CCG - het . 4 +intergenic GIPC1(dist=1976),DNAJB1(dist=16639) chr19 14608937 14608937 G A het . 3 +intergenic GIPC1(dist=7620),DNAJB1(dist=10995) chr19 14614581 14614581 G A het . 1 +intergenic GIPC1(dist=7637),DNAJB1(dist=10978) chr19 14614598 14614598 - T het . 2 +intergenic GIPC1(dist=16316),DNAJB1(dist=2299) chr19 14623277 14623277 A - het . 2 +intronic DNAJB1 chr19 14627050 14627050 G A het . 4 +intronic DNAJB1 chr19 14627246 14627247 CT - het . 6 +intronic TECR chr19 14651673 14651673 G A het . 2 +intronic TECR chr19 14655865 14655865 T C het . 8 +intronic TECR chr19 14669419 14669419 T C het . 2 +intronic TECR chr19 14674235 14674235 C T het . 3 +intronic TECR chr19 14676172 14676172 T A het . 4 +exonic NDUFB7 chr19 14682804 14682804 G C het . 7 +upstream NDUFB7(dist=401) chr19 14683290 14683290 G - het . 1 +intronic CLEC17A chr19 14713493 14713493 G A het . 1 +UTR3 CLEC17A(NM_001204118:c.*11C>T,NM_207390:c.*117C>T) chr19 14721019 14721019 C T het . 11 +intergenic CLEC17A(dist=6233),ADGRE3(dist=1740) chr19 14728189 14728189 C T het . 2 +intronic ADGRE3 chr19 14743902 14743902 C T het . 7 +intronic ADGRE3 chr19 14744181 14744181 T A het . 8 +exonic ADGRE3 chr19 14758168 14758168 G A het . 12 +intronic ADGRE3 chr19 14758223 14758224 TT - het . 7 +intronic ADGRE3 chr19 14762169 14762169 C T het . 3 +exonic ADGRE3 chr19 14769339 14769339 C G het . 10 +intronic ADGRE3 chr19 14772625 14772625 T C het . 6 +intronic ADGRE3 chr19 14772984 14772984 G T het . 4 +intronic ADGRE3 chr19 14779550 14779550 C A het . 11 +intronic ZNF333 chr19 14805719 14805719 T C het . 2 +exonic ZNF333 chr19 14817548 14817548 T A het . 4 +intronic ZNF333 chr19 14826849 14826849 T C het . 5 +exonic ZNF333 chr19 14829749 14829749 C T het . 8 +UTR3 ADGRE2(NM_013447:c.*187T>C,NM_001271052:c.*187T>C) chr19 14846861 14846861 A G het . 5 +UTR3 ADGRE2(NM_013447:c.*151A>T,NM_001271052:c.*151A>T) chr19 14846897 14846897 T A het . 6 +intronic ADGRE2 chr19 14852673 14852673 T C het . 2 +intronic ADGRE2 chr19 14852682 14852682 G C het . 1 +intronic ADGRE2 chr19 14852684 14852685 AG CT het . 1 +intronic ADGRE2 chr19 14852689 14852689 G T het . 1 +intronic ADGRE2 chr19 14857179 14857179 T C het . 5 +intronic ADGRE2 chr19 14857202 14857202 T C het . 4 +intronic ADGRE2 chr19 14857791 14857791 - A het . 17 +intronic ADGRE2 chr19 14857891 14857891 A G het . 9 +exonic ADGRE2 chr19 14862430 14862430 C G het . 18 +intronic ADGRE2 chr19 14865684 14865684 - T het . 2 +intronic ADGRE2 chr19 14865704 14865704 C T het . 3 +intronic ADGRE2 chr19 14866390 14866390 C T het . 3 +intronic ADGRE2 chr19 14866698 14866698 C T het . 9 +intronic ADGRE2 chr19 14866974 14866974 T C het . 12 +intronic ADGRE2 chr19 14867186 14867186 G A het . 14 +intronic ADGRE2 chr19 14875201 14875201 G T het . 6 +intronic ADGRE2 chr19 14877043 14877043 C T het . 11 +intergenic ADGRE2(dist=13731),OR7C1(dist=6902) chr19 14903084 14903084 T C het . 18 +exonic OR7C1 chr19 14910210 14910210 C G het . 16 +exonic OR7C1 chr19 14910321 14910321 A G het . 14 +exonic OR7C1 chr19 14910438 14910438 C T het . 14 +exonic OR7C1 chr19 14910573 14910573 C T het . 6 +exonic OR7C1 chr19 14910654 14910654 T C het . 8 +intergenic OR7C1(dist=8420),OR7A5(dist=17771) chr19 14919368 14919368 G A het . 2 +intergenic OR7A10(dist=10948),OR7A17(dist=27601) chr19 14963637 14963637 G A het . 6 +intergenic OR7A17(dist=22552),OR7C2(dist=37582) chr19 15014719 15014719 A G het . 5 +intergenic OR7A17(dist=26749),OR7C2(dist=33385) chr19 15018916 15018916 T C het . 2 +intergenic OR7A17(dist=35926),OR7C2(dist=24208) chr19 15028093 15028093 A G het . 9 +intergenic OR7A17(dist=36015),OR7C2(dist=24119) chr19 15028182 15028182 A G het . 4 +intergenic OR7A17(dist=39667),OR7C2(dist=20467) chr19 15031834 15031834 G A het . 2 +intergenic OR7A17(dist=45132),OR7C2(dist=15002) chr19 15037299 15037299 A T het . 5 +intergenic OR7A17(dist=45146),OR7C2(dist=14984) chr19 15037313 15037317 TTTTG - het . 4 +intergenic OR7A17(dist=46114),OR7C2(dist=14020) chr19 15038281 15038281 T C het . 7 +intergenic OR7A17(dist=46587),OR7C2(dist=13547) chr19 15038754 15038754 G T het . 11 +intergenic OR7A17(dist=46772),OR7C2(dist=13362) chr19 15038939 15038939 A C het . 3 +intergenic OR7A17(dist=48419),OR7C2(dist=11715) chr19 15040586 15040586 C G het . 2 +intergenic OR7A17(dist=57550),OR7C2(dist=2584) chr19 15049717 15049717 G T het . 2 +exonic OR7C2 chr19 15052983 15052983 - ATC het . 28 +intronic SLC1A6 chr19 15062126 15062126 G A het . 3 +intronic SLC1A6 chr19 15065169 15065169 T C het . 4 +intronic SLC1A6 chr19 15066248 15066248 C A het . 2 +UTR3 SLC1A6(NM_001272088:c.*23T>A,NM_001272087:c.*23T>A) chr19 15072787 15072787 A T het . 2 +intronic SLC1A6 chr19 15075020 15075020 A G het . 2 +intronic SLC1A6 chr19 15075281 15075281 A C het . 5 +intronic SLC1A6 chr19 15078927 15078927 G - het . 2 +intergenic SLC1A6(dist=5609),CCDC105(dist=25383) chr19 15096156 15096156 T C het . 2 +intergenic SLC1A6(dist=7752),CCDC105(dist=23240) chr19 15098299 15098299 T A het . 2 +intergenic SLC1A6(dist=9002),CCDC105(dist=21989) chr19 15099549 15099550 TG CA het . 2 +intergenic SLC1A6(dist=9392),CCDC105(dist=21600) chr19 15099939 15099939 C T het . 2 +exonic CCDC105 chr19 15131330 15131330 G A het . 12 +intronic CCDC105 chr19 15132545 15132545 T C het . 10 +intronic CCDC105 chr19 15132574 15132574 C G het . 6 +intronic CCDC105 chr19 15133127 15133127 - TTATTA het . 2 +intronic CCDC105 chr19 15133460 15133460 T C het . 2 +exonic CCDC105 chr19 15133762 15133762 G C het . 23 +intergenic CCDC105(dist=17256),CASP14(dist=8952) chr19 15151339 15151339 G A het . 2 +intronic CASP14 chr19 15166678 15166678 A G het . 3 +intronic CASP14 chr19 15166762 15166762 G T het . 16 +UTR3 CASP14(NM_012114:c.*97C>T) chr19 15166997 15166997 C T het . 12 +intergenic CASP14(dist=26036),OR1I1(dist=2738) chr19 15195139 15195139 G A het . 2 +exonic OR1I1 chr19 15198024 15198024 A T het . 10 +exonic OR1I1 chr19 15198263 15198263 A G het . 9 +exonic OR1I1 chr19 15198292 15198292 C G het . 10 +exonic OR1I1 chr19 15198441 15198441 G T het . 18 +exonic OR1I1 chr19 15198507 15198507 T C het . 23 +exonic OR1I1 chr19 15198606 15198606 C T het . 12 +exonic OR1I1 chr19 15198631 15198631 A C het . 9 +exonic OR1I1 chr19 15198751 15198751 T C het . 13 +exonic OR1I1 chr19 15198764 15198764 T C het . 10 +exonic OR1I1 chr19 15198851 15198851 A T het . 12 +intergenic OR1I1(dist=15937),SYDE1(dist=3294) chr19 15214881 15214881 C T het . 2 +exonic SYDE1 chr19 15220537 15220537 A C het . 3 +intronic SYDE1 chr19 15223466 15223466 A G het . 2 +intronic ILVBL chr19 15226611 15226611 C A het . 2 +exonic ILVBL chr19 15226970 15226970 G A het . 13 +exonic ILVBL chr19 15227030 15227030 G A het . 20 +intronic ILVBL chr19 15230654 15230654 G A het . 3 +exonic NOTCH3 chr19 15271771 15271771 G A het . 3 +intronic NOTCH3 chr19 15273221 15273221 T C het . 4 +intronic NOTCH3 chr19 15273231 15273231 A G het . 5 +intronic NOTCH3 chr19 15273248 15273248 A C het . 7 +intronic NOTCH3 chr19 15273381 15273381 A G het . 16 +intronic NOTCH3 chr19 15274201 15274201 T A het . 2 +intronic NOTCH3 chr19 15274503 15274503 A G het . 3 +intronic NOTCH3 chr19 15276007 15276007 C A het . 2 +intronic NOTCH3 chr19 15276055 15276055 C G het . 10 +intronic NOTCH3 chr19 15276143 15276143 C T het . 23 +intronic NOTCH3 chr19 15276919 15276919 G A het . 19 +intronic NOTCH3 chr19 15276923 15276923 C T het . 20 +intronic NOTCH3 chr19 15277006 15277006 T C het . 5 +intronic NOTCH3 chr19 15277009 15277010 CA TG het . 5 +intronic NOTCH3 chr19 15277027 15277027 G A het . 5 +intronic NOTCH3 chr19 15278057 15278057 A G het . 7 +intronic NOTCH3 chr19 15278373 15278373 - TTTG het . 2 +intronic NOTCH3 chr19 15281386 15281386 C A het . 7 +exonic NOTCH3 chr19 15285052 15285052 T C het . 16 +intronic NOTCH3 chr19 15289613 15289613 A T het . 6 +ncRNA_exonic MIR6795 chr19 15290125 15290125 G A het . 7 +intronic NOTCH3 chr19 15292088 15292088 G C het . 5 +intronic NOTCH3 chr19 15292366 15292366 C T het . 4 +exonic NOTCH3 chr19 15292437 15292437 T C het . 11 +intronic NOTCH3 chr19 15294043 15294043 C T het . 3 +exonic NOTCH3 chr19 15295134 15295134 G A het . 17 +intronic NOTCH3 chr19 15300069 15300069 T C het . 14 +exonic NOTCH3 chr19 15302844 15302844 T C het . 8 +UTR3 AKAP8(NM_005858:c.*806C>G) chr19 15464920 15464920 G C het . 2 +intronic AKAP8 chr19 15466373 15466373 T - het . 2 +intronic AKAP8 chr19 15471856 15471856 T C het . 3 +intronic AKAP8 chr19 15485350 15485350 C T het . 2 +intronic AKAP8 chr19 15490485 15490485 C T het . 7 +intronic AKAP8L chr19 15496473 15496473 C T het . 2 +intronic AKAP8L chr19 15500876 15500876 C A het . 2 +intronic AKAP8L chr19 15504382 15504382 G A het . 3 +intronic AKAP8L chr19 15506863 15506863 C A het . 2 +intronic AKAP8L chr19 15508130 15508130 G A het . 4 +exonic AKAP8L chr19 15508362 15508362 G C het . 17 +intronic AKAP8L chr19 15511206 15511207 TT - het . 6 +intronic AKAP8L chr19 15521767 15521767 G A het . 2 +UTR3 WIZ(NM_021241:c.*66T>C,NM_001330395:c.*66T>C) chr19 15533821 15533821 A G het . 4 +intronic WIZ chr19 15549939 15549939 C T het . 5 +intronic PGLYRP2 chr19 15583421 15583421 A G het . 2 +intronic PGLYRP2 chr19 15588440 15588440 T C het . 2 +intronic CYP4F22 chr19 15621180 15621180 G A het . 3 +intronic CYP4F22 chr19 15636122 15636122 A C het . 16 +intronic CYP4F22 chr19 15641195 15641195 C T het . 2 +intronic CYP4F22 chr19 15648148 15648148 C T het . 24 +intronic CYP4F22 chr19 15654631 15654631 G A het . 9 +intergenic CYP4F22(dist=9272),CYP4F8(dist=53629) chr19 15672400 15672400 C T het . 2 +intergenic CYP4F22(dist=30966),CYP4F8(dist=31935) chr19 15694094 15694094 C T het . 2 +intergenic CYP4F22(dist=32299),CYP4F8(dist=30602) chr19 15695427 15695427 G T het . 5 +intergenic CYP4F22(dist=32348),CYP4F8(dist=30553) chr19 15695476 15695476 C T het . 7 +intergenic CYP4F22(dist=33855),CYP4F8(dist=29046) chr19 15696983 15696983 G A het . 2 +intergenic CYP4F22(dist=38798),CYP4F8(dist=24103) chr19 15701926 15701926 C A het . 2 +intergenic CYP4F22(dist=48028),CYP4F8(dist=14873) chr19 15711156 15711156 T C het . 2 +intergenic CYP4F22(dist=54445),CYP4F8(dist=8456) chr19 15717573 15717573 T C het . 5 +intergenic CYP4F22(dist=59460),CYP4F8(dist=3441) chr19 15722588 15722588 C T het . 25 +intronic CYP4F8 chr19 15729056 15729056 C G het . 29 +exonic CYP4F8 chr19 15730498 15730498 - C het . 15 +intronic CYP4F8 chr19 15737899 15737899 A T het . 2 +intronic CYP4F8 chr19 15739084 15739084 T C het . 5 +intronic CYP4F8 chr19 15739315 15739315 T C het . 3 +exonic CYP4F8 chr19 15739597 15739597 A C het . 4 +intronic CYP4F8 chr19 15739935 15739935 G C het . 4 +intronic CYP4F8 chr19 15739992 15739992 T C het . 6 +intronic CYP4F3 chr19 15754893 15754893 A G het . 2 +intronic CYP4F3 chr19 15757927 15757927 T C het . 6 +exonic CYP4F3 chr19 15763721 15763721 G A het . 9 +intronic CYP4F3 chr19 15769253 15769253 C A het . 7 +intronic CYP4F3 chr19 15769270 15769270 A C het . 5 +intronic CYP4F3 chr19 15769379 15769379 G C het . 7 +intronic CYP4F3 chr19 15769449 15769449 A G het . 6 +intronic CYP4F3 chr19 15769478 15769478 C T het . 11 +intronic CYP4F3 chr19 15769529 15769530 GC TT het . 14 +intronic CYP4F3 chr19 15769625 15769625 A G het . 4 +intergenic CYP4F3(dist=3405),CYP4F12(dist=8853) chr19 15774975 15774975 G T het . 4 +intergenic CYP4F3(dist=3640),CYP4F12(dist=8618) chr19 15775210 15775210 T C het . 8 +intergenic CYP4F3(dist=4210),CYP4F12(dist=8048) chr19 15775780 15775780 G A het . 3 +intergenic CYP4F3(dist=6361),CYP4F12(dist=5897) chr19 15777931 15777931 T C het . 4 +intergenic CYP4F3(dist=6372),CYP4F12(dist=5885) chr19 15777942 15777943 CC TT het . 4 +intergenic CYP4F3(dist=6383),CYP4F12(dist=5875) chr19 15777953 15777953 A C het . 3 +intergenic CYP4F3(dist=6393),CYP4F12(dist=5865) chr19 15777963 15777963 C A het . 2 +intergenic CYP4F3(dist=7681),CYP4F12(dist=4577) chr19 15779251 15779251 T C het . 2 +intergenic CYP4F3(dist=8675),CYP4F12(dist=3583) chr19 15780245 15780245 T G het . 10 +intergenic CYP4F3(dist=8728),CYP4F12(dist=3530) chr19 15780298 15780298 T C het . 8 +intergenic CYP4F3(dist=8730),CYP4F12(dist=3528) chr19 15780300 15780300 T G het . 8 +intronic CYP4F12 chr19 15784061 15784061 C A het . 7 +intronic CYP4F12 chr19 15784116 15784116 G A het . 2 +intronic CYP4F12 chr19 15784285 15784285 C T het . 3 +intronic CYP4F12 chr19 15784319 15784319 G T het . 4 +exonic CYP4F12 chr19 15784377 15784377 C T het . 17 +exonic CYP4F12 chr19 15784386 15784386 C T het . 20 +intronic CYP4F12 chr19 15784617 15784617 A G het . 3 +intronic CYP4F12 chr19 15789034 15789034 C A het . 3 +exonic CYP4F12 chr19 15789098 15789098 A G het . 5 +exonic CYP4F12 chr19 15789114 15789114 C T het . 7 +exonic CYP4F12 chr19 15789140 15789140 A G het . 9 +intronic CYP4F12 chr19 15789250 15789250 A G het . 5 +intronic CYP4F12 chr19 15789257 15789257 T C het . 4 +intronic CYP4F12 chr19 15789282 15789282 C G het . 2 +intronic CYP4F12 chr19 15789302 15789302 T C het . 2 +intronic CYP4F12 chr19 15789311 15789311 T C het . 3 +intronic CYP4F12 chr19 15789316 15789316 A G het . 2 +intronic CYP4F12 chr19 15789322 15789322 T A het . 2 +intronic CYP4F12 chr19 15791180 15791180 C T het . 6 +exonic CYP4F12 chr19 15793235 15793235 T C het . 3 +intronic CYP4F12 chr19 15793370 15793370 A T het . 6 +intronic CYP4F12 chr19 15800679 15800679 T C het . 2 +intronic CYP4F12 chr19 15802595 15802595 C T het . 3 +intronic CYP4F12 chr19 15803710 15803710 T C het . 2 +intronic CYP4F12 chr19 15807157 15807157 A G het . 6 +intronic CYP4F12 chr19 15807175 15807175 G C het . 8 +intronic CYP4F12 chr19 15807212 15807212 T G het . 15 +exonic CYP4F12 chr19 15807305 15807305 T C het . 13 +exonic CYP4F12 chr19 15807830 15807830 T C het . 16 +exonic CYP4F12 chr19 15807884 15807884 A G het . 6 +exonic OR10H2 chr19 15839081 15839081 C T het . 2 +exonic OR10H2 chr19 15839365 15839365 C T het . 8 +intergenic OR10H2(dist=2730),OR10H3(dist=9611) chr19 15842592 15842592 A - het . 3 +exonic OR10H3 chr19 15852223 15852223 A C het . 11 +exonic OR10H3 chr19 15852242 15852242 C A het . 12 +exonic OR10H3 chr19 15852363 15852363 G A het . 26 +exonic OR10H3 chr19 15852544 15852544 C T het . 26 +ncRNA_exonic CYP4F24P chr19 15871140 15871140 C G het . 5 +ncRNA_intronic CYP4F24P chr19 15871841 15871841 C A het . 1 +ncRNA_intronic CYP4F24P chr19 15881751 15881751 A C het . 4 +ncRNA_intronic CYP4F24P chr19 15884810 15884810 A T het . 5 +ncRNA_intronic CYP4F24P chr19 15890517 15890517 A C het . 7 +ncRNA_exonic CYP4F24P chr19 15890625 15890625 C G het . 13 +intergenic CYP4F24P(dist=3487),OR10H5(dist=10574) chr19 15894285 15894285 A G het . 6 +exonic OR10H5 chr19 15905431 15905431 T C het . 12 +downstream OR10H5(dist=85) chr19 15905891 15905891 C T het . 3 +intronic LINC01835 chr19 15965715 15965715 A C het . 2 +intergenic LINC01835(dist=3927),CYP4F2(dist=9193) chr19 15979641 15979641 T C het . 2 +intergenic LINC01835(dist=9637),CYP4F2(dist=3483) chr19 15985351 15985351 - A het . 3 +exonic CYP4F2 chr19 15989730 15989730 T C het . 10 +exonic CYP4F2 chr19 15996820 15996820 G A het . 8 +intronic CYP4F2 chr19 16000166 16000166 C T het . 7 +intergenic CYP4F2(dist=4137),CYP4F11(dist=10113) chr19 16013067 16013067 - T het . 7 +intergenic CYP4F2(dist=4408),CYP4F11(dist=9842) chr19 16013338 16013338 T C het . 22 +intergenic CYP4F2(dist=5063),CYP4F11(dist=9187) chr19 16013993 16013993 T C het . 8 +intergenic CYP4F2(dist=5234),CYP4F11(dist=9016) chr19 16014164 16014164 G C het . 3 +intergenic CYP4F2(dist=5246),CYP4F11(dist=9003) chr19 16014176 16014177 AA - het . 3 +intergenic CYP4F2(dist=9478),CYP4F11(dist=4772) chr19 16018408 16018408 G C het . 2 +intergenic CYP4F2(dist=9503),CYP4F11(dist=4747) chr19 16018433 16018433 C T het . 2 +intergenic CYP4F2(dist=12612),CYP4F11(dist=1638) chr19 16021542 16021542 - T het . 10 +intergenic CYP4F2(dist=13214),CYP4F11(dist=1036) chr19 16022144 16022144 A G het . 15 +UTR3 CYP4F11(NM_021187:c.*4T>C,NM_001128932:c.*4T>C) chr19 16024538 16024538 A G het . 9 +exonic CYP4F11 chr19 16024662 16024662 G C het . 10 +intronic CYP4F11 chr19 16024739 16024739 A G het . 3 +intronic CYP4F11 chr19 16024774 16024774 A G het . 2 +exonic CYP4F11 chr19 16025176 16025176 C T het . 14 +intronic CYP4F11 chr19 16025312 16025312 T G het . 7 +intronic CYP4F11 chr19 16033379 16033379 G T het . 5 +intronic CYP4F11 chr19 16033485 16033485 C T het . 3 +exonic CYP4F11 chr19 16034714 16034714 A G het . 17 +intronic CYP4F11 chr19 16038334 16038334 G A het . 9 +exonic CYP4F11 chr19 16040292 16040292 A G het . 12 +exonic CYP4F11 chr19 16045141 16045141 T C het . 15 +exonic OR10H4 chr19 16059846 16059846 C G het . 9 +downstream OR10H4(dist=59) chr19 16060827 16060827 T G het . 2 +intergenic OR10H4(dist=22389),LINC00661(dist=43280) chr19 16083157 16083164 AGAAAGAA - het . 2 +intergenic OR10H4(dist=47434),LINC00661(dist=18242) chr19 16108202 16108202 A G het . 5 +intergenic OR10H4(dist=53995),LINC00661(dist=11681) chr19 16114763 16114763 C A het . 2 +upstream LINC00905(dist=352) chr19 16144171 16144171 A G het . 2 +ncRNA_exonic LINC00905 chr19 16146400 16146400 A G het . 25 +ncRNA_exonic LINC00905 chr19 16152411 16152411 C - het . 3 +intergenic LINC00905(dist=9447),LINC01855(dist=14105) chr19 16162392 16162392 T C het . 2 +intergenic LINC00905(dist=16201),LINC01855(dist=7351) chr19 16169146 16169146 A - het . 2 +intergenic LINC00905(dist=16403),LINC01855(dist=7149) chr19 16169348 16169348 A G het . 2 +intergenic LINC00905(dist=21008),LINC01855(dist=2544) chr19 16173953 16173953 T C het . 2 +intronic TPM4 chr19 16192898 16192898 A G het . 12 +intronic TPM4 chr19 16192958 16192958 A G het . 6 +intronic TPM4 chr19 16197421 16197421 A G het . 4 +intergenic TPM4(dist=4699),RAB8A(dist=3978) chr19 16218512 16218512 C T het . 2 +intronic RAB8A chr19 16223609 16223609 C T het . 2 +intronic RAB8A chr19 16228299 16228299 A - het . 2 +intronic RAB8A chr19 16228525 16228525 A - het . 3 +intronic RAB8A chr19 16229236 16229236 A G het . 2 +intronic RAB8A chr19 16232508 16232508 A G het . 8 +exonic RAB8A chr19 16238279 16238279 C T het . 2 +intronic HSH2D chr19 16248311 16248311 A G het . 2 +splicing HSH2D(NM_001291274:exon8:c.491+1A>-,NM_001291274:exon9:c.492-1A>-,NM_032855:exon8:c.662+1A>-,NM_032855:exon9:c.663-1A>-) chr19 16268208 16268208 A - het . 12 +intronic CIB3 chr19 16274091 16274091 C T het . 2 +intronic CIB3 chr19 16275515 16275515 A G het . 8 +exonic CIB3 chr19 16275655 16275655 C T het . 15 +intronic CIB3 chr19 16275772 16275772 A G het . 2 +intronic CIB3 chr19 16278665 16278665 C A het . 2 +intergenic CIB3(dist=3828),FAM32A(dist=8048) chr19 16288164 16288164 G A het . 2 +intergenic CIB3(dist=4991),FAM32A(dist=6885) chr19 16289327 16289327 T C het . 2 +intergenic CIB3(dist=8301),FAM32A(dist=3574) chr19 16292637 16292638 TT - het . 2 +intergenic CIB3(dist=8656),FAM32A(dist=3220) chr19 16292992 16292992 T C het . 3 +intronic FAM32A chr19 16301312 16301312 A G het . 6 +intronic FAM32A chr19 16301544 16301544 G C het . 2 +downstream FAM32A(dist=607) chr19 16303464 16303464 T G het . 2 +intronic AP1M1 chr19 16320075 16320075 C G het . 11 +intronic AP1M1 chr19 16320790 16320790 T C het . 2 +intronic AP1M1 chr19 16338532 16338532 G A het . 6 +intronic AP1M1 chr19 16339069 16339069 G A het . 6 +exonic AP1M1 chr19 16339715 16339715 C T het . 16 +intronic AP1M1 chr19 16344528 16344528 C G het . 4 +intronic AP1M1 chr19 16345099 16345099 T C het . 4 +intergenic AP1M1(dist=2694),KLF2(dist=86787) chr19 16348850 16348850 C T het . 2 +intergenic AP1M1(dist=6604),KLF2(dist=82877) chr19 16352760 16352760 C T het . 2 +intergenic AP1M1(dist=17219),KLF2(dist=72262) chr19 16363375 16363375 A G het . 2 +intergenic AP1M1(dist=17261),KLF2(dist=72220) chr19 16363417 16363417 G C het . 3 +intergenic AP1M1(dist=20389),KLF2(dist=69092) chr19 16366545 16366545 T C het . 2 +intergenic AP1M1(dist=22768),KLF2(dist=66713) chr19 16368924 16368924 T A het . 2 +intergenic AP1M1(dist=61620),KLF2(dist=27861) chr19 16407776 16407776 A G het . 2 +UTR5 KLF2(NM_016270:c.-18T>C) chr19 16435717 16435717 T C het . 15 +intronic KLF2 chr19 16435853 16435853 C T het . 9 +exonic KLF2 chr19 16436262 16436262 T C het . 6 +intergenic KLF2(dist=14323),EPS15L1(dist=12259) chr19 16453796 16453796 G T het . 3 +intergenic KLF2(dist=15936),EPS15L1(dist=10646) chr19 16455409 16455409 A - het . 2 +intronic EPS15L1 chr19 16501289 16501289 T A het . 2 +intronic EPS15L1 chr19 16514771 16514771 A G het . 10 +intronic EPS15L1 chr19 16552914 16552914 G A het . 9 +intergenic EPS15L1(dist=2615),CALR3(dist=4430) chr19 16585438 16585438 A G het . 2 +intronic CALR3 chr19 16590171 16590171 T G het . 19 +intronic CALR3 chr19 16590260 16590260 G A het . 2 +intronic CALR3 chr19 16591362 16591363 AA - het . 17 +exonic CALR3 chr19 16591464 16591464 G A het . 45 +intronic CALR3 chr19 16591695 16591695 G A het . 15 +intronic CALR3 chr19 16591700 16591700 T C het . 16 +intronic CALR3 chr19 16593190 16593194 AACAA - het . 32 +intronic CALR3 chr19 16593203 16593203 A G het . 35 +exonic CALR3 chr19 16593318 16593318 C T het . 44 +intronic CALR3 chr19 16593415 16593415 G A het . 33 +intronic CALR3 chr19 16594967 16594967 A G het . 9 +intronic CALR3 chr19 16594979 16594979 C T het . 4 +intronic CALR3 chr19 16596143 16596143 T - het . 14 +intronic CALR3 chr19 16601154 16601154 T C het . 13 +exonic CALR3 chr19 16601194 16601194 C T het . 16 +intronic CALR3 chr19 16601926 16601926 C A het . 3 +intronic CALR3 chr19 16601934 16601934 G A het . 3 +intronic CALR3 chr19 16604677 16604677 T C het . 1 +intronic CALR3 chr19 16606742 16606742 G C het . 19 +intronic CALR3 chr19 16606766 16606766 G C het . 16 +intronic C19orf44 chr19 16617404 16617404 A - het . 7 +exonic CHERP chr19 16640581 16640583 TGC - het . 36 +exonic SLC35E1 chr19 16666101 16666101 G C het . 23 +intronic SLC35E1 chr19 16676027 16676027 T - het . 11 +upstream SMIM7,TMEM38A(dist=932) chr19 16771006 16771006 G A het . 12 +exonic TMEM38A chr19 16790859 16790859 C T het . 11 +intronic TMEM38A chr19 16791443 16791443 T C het . 5 +intronic TMEM38A chr19 16797240 16797240 A G het . 2 +intronic TMEM38A chr19 16797523 16797523 C G het . 2 +intergenic TMEM38A(dist=1752),NWD1(dist=29219) chr19 16801568 16801568 G A het . 3 +intergenic TMEM38A(dist=6226),NWD1(dist=24738) chr19 16806042 16806049 ATTTTTAA - het . 4 +intergenic TMEM38A(dist=12585),NWD1(dist=18386) chr19 16812401 16812401 C T het . 2 +exonic NWD1 chr19 16842052 16842052 G T het . 17 +intronic NWD1 chr19 16847020 16847020 T C het . 3 +exonic NWD1 chr19 16855265 16855265 A G het . 14 +exonic NWD1 chr19 16860105 16860105 G A het . 12 +exonic NWD1 chr19 16860392 16860392 C T het . 18 +intronic NWD1 chr19 16869926 16869926 T C het . 5 +exonic NWD1 chr19 16872940 16872940 G A het . 8 +intronic NWD1 chr19 16883912 16883912 C T het . 4 +intronic NWD1 chr19 16889602 16889602 T C het . 2 +intronic NWD1 chr19 16889612 16889612 C A het . 1 +exonic NWD1 chr19 16890243 16890243 C G het . 7 +exonic NWD1 chr19 16899838 16899838 A T het . 23 +exonic NWD1 chr19 16899865 16899865 A G het . 32 +intronic NWD1 chr19 16905474 16905474 G T het . 6 +intronic NWD1 chr19 16905527 16905527 A T het . 4 +intronic NWD1 chr19 16923494 16923494 C G het . 10 +exonic NWD1 chr19 16926067 16926067 A T het . 21 +exonic SIN3B chr19 16976286 16976286 A G het . 14 +intronic SIN3B chr19 16983141 16983141 A G het . 3 +intronic SIN3B chr19 16988476 16988476 T C het . 5 +exonic F2RL3 chr19 17000632 17000632 G A het . 6 +UTR3 CPAMD8(NM_015692:c.*130A>C) chr19 17003789 17003789 T G het . 8 +exonic CPAMD8 chr19 17004049 17004049 T C het . 15 +intronic CPAMD8 chr19 17005387 17005387 T A het . 9 +intronic CPAMD8 chr19 17006738 17006738 - CG het . 3 +intronic CPAMD8 chr19 17006787 17006787 G A het . 15 +exonic CPAMD8 chr19 17008578 17008578 G C het . 8 +intronic CPAMD8 chr19 17011950 17011950 - C het . 3 +exonic CPAMD8 chr19 17025292 17025292 G A het . 11 +intronic CPAMD8 chr19 17068621 17068621 C G het . 17 +exonic CPAMD8 chr19 17108135 17108135 C T het . 9 +exonic CPAMD8 chr19 17111297 17111297 A G het . 2 +intronic CPAMD8 chr19 17111411 17111411 A G het . 4 +exonic CPAMD8 chr19 17113147 17113147 A G het . 5 +intronic CPAMD8 chr19 17113529 17113529 G C het . 2 +intronic CPAMD8 chr19 17119380 17119380 T G het . 10 +intronic CPAMD8 chr19 17119560 17119560 T C het . 2 +intergenic CPAMD8(dist=14114),HAUS8(dist=8832) chr19 17151739 17151739 A G het . 2 +downstream HAUS8(dist=188) chr19 17160380 17160383 AAGT - het . 3 +exonic HAUS8 chr19 17163661 17163661 C T het . 8 +intronic HAUS8 chr19 17166897 17166898 AA - het . 4 +intronic HAUS8 chr19 17169758 17169758 G C het . 12 +intronic HAUS8 chr19 17170540 17170541 GG AT het . 6 +exonic HAUS8 chr19 17170885 17170885 C T het . 22 +intronic HAUS8 chr19 17173418 17173418 A G het . 6 +intronic HAUS8 chr19 17173487 17173487 A G het . 17 +intronic HAUS8 chr19 17179789 17179789 G A het . 8 +intronic HAUS8 chr19 17180033 17180033 C T het . 3 +intronic HAUS8 chr19 17186127 17186127 A C het . 8 +intronic HAUS8 chr19 17186136 17186136 C A het . 8 +exonic MYO9B chr19 17212967 17212967 A C het . 5 +exonic MYO9B chr19 17212969 17212969 T G het . 5 +exonic MYO9B chr19 17212992 17212992 C T het . 3 +intronic MYO9B chr19 17213536 17213536 T C het . 3 +intronic MYO9B chr19 17234855 17234855 A C het . 2 +intronic MYO9B chr19 17235597 17235597 C T het . 2 +intronic MYO9B chr19 17238170 17238170 C T het . 2 +intronic MYO9B chr19 17256032 17256032 G A het . 2 +intronic MYO9B chr19 17256072 17256072 C A het . 6 +intronic MYO9B chr19 17263232 17263232 G T het . 2 +intronic MYO9B chr19 17264963 17264963 C T het . 6 +intronic MYO9B chr19 17268276 17268276 C T het . 3 +exonic MYO9B chr19 17273893 17273893 G T het . 7 +intronic MYO9B chr19 17280584 17280584 G A het . 3 +intronic MYO9B chr19 17283383 17283383 - G het . 2 +intronic MYO9B chr19 17283491 17283491 T C het . 3 +intronic MYO9B chr19 17284258 17284258 T C het . 2 +intronic MYO9B chr19 17286438 17286438 A T het . 4 +intronic MYO9B chr19 17288096 17288096 T - het . 2 +intronic MYO9B chr19 17301880 17301880 T C het . 2 +intronic MYO9B chr19 17302056 17302056 A G het . 4 +exonic MYO9B chr19 17306031 17306031 T C het . 9 +intronic MYO9B chr19 17308734 17308734 T G het . 6 +exonic MYO9B chr19 17312992 17312992 C T het . 6 +intronic MYO9B chr19 17313619 17313619 C A het . 5 +intronic MYO9B chr19 17316253 17316253 T C het . 3 +exonic MYO9B chr19 17316782 17316782 T C het . 4 +exonic MYO9B chr19 17317955 17317955 A G het . 15 +intronic MYO9B chr19 17321487 17321487 A G het . 9 +intronic MYO9B chr19 17321669 17321669 A G het . 19 +exonic USE1 chr19 17330060 17330060 T C het . 8 +intronic OCEL1 chr19 17337223 17337223 G A het . 4 +exonic USHBP1 chr19 17361064 17361064 C T het . 8 +intronic USHBP1 chr19 17362526 17362526 A G het . 4 +intronic USHBP1 chr19 17362941 17362941 A C het . 6 +intronic USHBP1 chr19 17366111 17366111 A - het . 4 +exonic USHBP1 chr19 17366278 17366278 T C het . 17 +exonic USHBP1 chr19 17366313 17366313 C T het . 11 +intronic USHBP1 chr19 17367109 17367109 T C het . 2 +exonic USHBP1 chr19 17367435 17367435 T C het . 8 +exonic USHBP1 chr19 17370190 17370190 T G het . 12 +upstream BABAM1(dist=573) chr19 17377612 17377612 C G het . 2 +intronic BABAM1 chr19 17382505 17382505 A T het . 8 +exonic ANKLE1 chr19 17392629 17392629 G A het . 3 +exonic ANKLE1 chr19 17392894 17392894 G A het . 18 +intronic ANKLE1 chr19 17393327 17393327 G C het . 2 +exonic ANKLE1 chr19 17393504 17393504 G C het . 20 +exonic ANKLE1 chr19 17393530 17393530 T A het . 15 +exonic ANKLE1 chr19 17394124 17394124 T G het . 13 +exonic ANKLE1 chr19 17394504 17394504 A C het . 8 +exonic ANKLE1 chr19 17395003 17395003 A G het . 22 +exonic ANKLE1 chr19 17395055 17395055 C G het . 9 +intronic ANKLE1 chr19 17395182 17395182 G T het . 6 +intronic ANKLE1 chr19 17395193 17395193 T - het . 4 +exonic ANKLE1 chr19 17396549 17396549 T C het . 25 +intronic ANKLE1 chr19 17396761 17396761 T C het . 2 +intronic ANKLE1 chr19 17396942 17396942 C T het . 2 +intronic ABHD8 chr19 17403908 17403908 T - het . 3 +exonic ABHD8 chr19 17412218 17412218 C T het . 4 +UTR5 MRPL34(NM_023937:c.-111del-) chr19 17416591 17416591 T - het . 9 +intronic DDA1 chr19 17424932 17424932 A G het . 6 +intronic DDA1 chr19 17424947 17424947 T G het . 5 +exonic ANO8 chr19 17435884 17435884 T C het . 11 +exonic ANO8 chr19 17438642 17438642 A G het . 10 +exonic ANO8 chr19 17439034 17439034 C T het . 15 +intronic ANO8 chr19 17440542 17440542 C G het . 21 +exonic GTPBP3 chr19 17448961 17448961 A C het . 20 +exonic GTPBP3 chr19 17450016 17450016 T C het . 6 +exonic GTPBP3 chr19 17451981 17451981 G A het . 9 +intronic GTPBP3 chr19 17452224 17452224 C A het . 5 +intergenic GTPBP3(dist=7057),PLVAP(dist=1660) chr19 17460597 17460597 A G het . 2 +upstream PLVAP(dist=799) chr19 17488957 17488957 T G het . 2 +intergenic PLVAP(dist=1567),BST2(dist=24023) chr19 17489725 17489725 T G het . 3 +intronic BST2 chr19 17514646 17514646 - GGG het . 4 +intronic MVB12A chr19 17528711 17528711 T - het . 15 +intronic MVB12A chr19 17528809 17528809 G A het . 8 +intronic MVB12A chr19 17531339 17531339 A C het . 8 +intronic MVB12A chr19 17531450 17531450 G A het . 9 +intronic MVB12A chr19 17534693 17534693 T C het . 2 +intergenic MVB12A(dist=6950),TMEM221(dist=3220) chr19 17543098 17543098 G C het . 2 +intergenic MVB12A(dist=6965),TMEM221(dist=3205) chr19 17543113 17543113 G A het . 2 +intergenic MVB12A(dist=8017),TMEM221(dist=2153) chr19 17544165 17544165 C T het . 2 +intergenic MVB12A(dist=8096),TMEM221(dist=2074) chr19 17544244 17544244 C T het . 7 +exonic TMEM221 chr19 17547292 17547292 A G het . 4 +exonic TMEM221 chr19 17547421 17547421 G A het . 15 +intronic TMEM221 chr19 17549704 17549704 - C het . 2 +intronic TMEM221 chr19 17555910 17555910 C A het . 2 +exonic TMEM221 chr19 17556054 17556054 A G het . 19 +UTR3 NXNL1(NM_138454:c.*47C>A) chr19 17566409 17566409 G T het . 2 +exonic NXNL1 chr19 17566634 17566634 T A het . 28 +intronic NXNL1 chr19 17570202 17570202 A T het . 6 +upstream NXNL1(dist=41) chr19 17571766 17571766 A G het . 3 +upstream NXNL1(dist=459) chr19 17572184 17572184 A G het . 2 +ncRNA_intronic LOC100507551 chr19 17600244 17600244 A G het . 2 +ncRNA_intronic LOC100507551 chr19 17601243 17601243 A G het . 2 +ncRNA_intronic LOC100507551 chr19 17601275 17601275 - A het . 1 +ncRNA_intronic LOC100507551 chr19 17601276 17601276 T A het . 1 +ncRNA_intronic LOC100507551 chr19 17607742 17607742 A G het . 2 +ncRNA_intronic LOC100507551 chr19 17611490 17611490 T G het . 4 +ncRNA_intronic LOC100507551 chr19 17612251 17612251 T C het . 3 +intronic PGLS chr19 17627105 17627105 C T het . 13 +intronic FAM129C chr19 17643065 17643065 T C het . 2 +exonic;splicing FAM129C;FAM129C(NM_173544:exon6:c.685+1T>C,NM_001098524:exon6:c.685+1T>C,NM_001321826:exon5:c.592+1T>C,NM_001321827:exon5:c.592+1T>C,NM_001321828:exon4:UTR5) chr19 17648350 17648350 T C het . 6 +exonic FAM129C chr19 17651370 17651370 A G het . 2 +exonic FAM129C chr19 17660300 17660300 G A het . 8 +intronic FAM129C chr19 17662198 17662198 C T het . 2 +intronic FAM129C chr19 17664102 17664102 C A het . 23 +intronic COLGALT1 chr19 17675726 17675726 T C het . 2 +intronic COLGALT1 chr19 17678451 17678451 A G het . 4 +intronic COLGALT1 chr19 17679227 17679227 T C het . 4 +intronic COLGALT1 chr19 17679597 17679597 A G het . 6 +intronic COLGALT1 chr19 17691751 17691751 C T het . 6 +UTR3 COLGALT1(NM_024656:c.*71T>G) chr19 17692324 17692324 T G het . 3 +intergenic COLGALT1(dist=2767),UNC13A(dist=15399) chr19 17696738 17696738 A G het . 2 +intergenic COLGALT1(dist=6852),UNC13A(dist=11314) chr19 17700823 17700823 A - het . 10 +intergenic COLGALT1(dist=7059),UNC13A(dist=11107) chr19 17701030 17701030 T C het . 2 +intergenic COLGALT1(dist=15235),UNC13A(dist=2931) chr19 17709206 17709206 T C het . 2 +exonic UNC13A chr19 17716896 17716896 G T het . 13 +intronic UNC13A chr19 17723679 17723679 C A het . 3 +intronic UNC13A chr19 17727183 17727183 G A het . 6 +intronic UNC13A chr19 17728502 17728502 T C het . 3 +exonic UNC13A chr19 17728572 17728572 C T het . 23 +intronic UNC13A chr19 17729148 17729148 C T het . 3 +intronic UNC13A chr19 17729672 17729672 - G het . 7 +intronic UNC13A chr19 17729787 17729787 T G het . 14 +intronic UNC13A chr19 17739976 17739976 T C het . 4 +exonic UNC13A chr19 17741047 17741047 A G het . 16 +intronic UNC13A chr19 17744075 17744075 - C het . 6 +exonic UNC13A chr19 17746947 17746947 A G het . 15 +intronic UNC13A chr19 17757086 17757086 T G het . 1 +exonic UNC13A chr19 17759289 17759289 G C het . 8 +intronic UNC13A chr19 17762059 17762059 - T het . 2 +intronic UNC13A chr19 17762094 17762094 C T het . 2 +intronic UNC13A chr19 17762326 17762326 A C het . 2 +intronic UNC13A chr19 17763392 17763392 A G het . 8 +intronic UNC13A chr19 17767720 17767720 A G het . 1 +intronic UNC13A chr19 17768693 17768693 A - het . 2 +intronic UNC13A chr19 17784827 17784827 A G het . 2 +intronic UNC13A chr19 17786748 17786748 C T het . 5 +intronic UNC13A chr19 17786792 17786792 G A het . 17 +intronic UNC13A chr19 17794239 17794239 A G het . 2 +intronic UNC13A chr19 17794651 17794651 A G het . 3 +intergenic UNC13A(dist=2398),MAP1S(dist=28855) chr19 17801406 17801406 G A het . 4 +intergenic UNC13A(dist=23817),MAP1S(dist=7436) chr19 17822825 17822825 T C het . 2 +intronic MAP1S chr19 17835831 17835831 T G het . 7 +exonic MAP1S chr19 17837425 17837425 C G het . 13 +exonic MAP1S chr19 17837981 17837981 A G het . 14 +intronic FCHO1 chr19 17869818 17869818 G A het . 2 +exonic FCHO1 chr19 17885880 17885880 C T het . 6 +intronic FCHO1 chr19 17887024 17887024 T C het . 18 +intronic FCHO1 chr19 17887563 17887563 G A het . 6 +intronic FCHO1 chr19 17892193 17892193 G C het . 4 +intronic FCHO1 chr19 17893602 17893602 A G het . 2 +intronic FCHO1 chr19 17894372 17894372 C T het . 2 +intergenic FCHO1(dist=3327),B3GNT3(dist=3215) chr19 17902704 17902704 G A het . 2 +exonic B3GNT3 chr19 17919024 17919024 A T het . 8 +exonic B3GNT3 chr19 17922795 17922795 G A het . 18 +UTR3 B3GNT3(NM_014256:c.*864T>C) chr19 17923795 17923795 T C het . 2 +downstream INSL3(dist=666) chr19 17926656 17926656 A G het . 2 +intronic INSL3 chr19 17930890 17930890 A C het . 2 +intronic INSL3 chr19 17930970 17930970 G A het . 4 +intronic INSL3 chr19 17931077 17931077 A G het . 11 +intronic INSL3 chr19 17931350 17931350 C T het . 4 +exonic INSL3 chr19 17932138 17932138 T C het . 21 +upstream INSL3(dist=472) chr19 17932855 17932855 T G het . 2 +UTR3 JAK3(NM_000215:c.*123T>C) chr19 17937429 17937429 A G het . 6 +intronic JAK3 chr19 17951178 17951178 G A het . 8 +intronic JAK3 chr19 17952185 17952185 G T het . 13 +intronic JAK3 chr19 17952609 17952609 T G het . 12 +upstream RPL18A(dist=60) chr19 17970627 17970627 C G het . 3 +intronic RPL18A chr19 17973573 17973573 G A het . 4 +intronic RPL18A chr19 17973862 17973862 G C het . 10 +intronic SLC5A5 chr19 17985635 17985635 C G het . 4 +intronic SLC5A5 chr19 17985967 17985967 T C het . 3 +intronic SLC5A5 chr19 17985983 17985983 A C het . 4 +intronic SLC5A5 chr19 18003907 18003907 T - het . 4 +intronic KCNN1 chr19 18067390 18067390 - T het . 2 +intronic KCNN1 chr19 18108956 18108956 C G het . 4 +downstream KCNN1(dist=644) chr19 18110574 18110574 G A het . 2 +downstream KCNN1(dist=960) chr19 18110890 18110890 C T het . 13 +upstream ARRDC2(dist=947) chr19 18110994 18110994 T C het . 2 +upstream ARRDC2(dist=466) chr19 18111475 18111475 - GGAA het . 2 +intronic ARRDC2 chr19 18114474 18114474 A - het . 5 +intronic ARRDC2 chr19 18114476 18114476 T - het . 5 +intronic ARRDC2 chr19 18119399 18119399 G A het . 11 +intronic ARRDC2 chr19 18121967 18121967 T C het . 2 +exonic ARRDC2 chr19 18123738 18123738 T C het . 9 +intergenic ARRDC2(dist=6394),IL12RB1(dist=38500) chr19 18131305 18131305 C T het . 2 +intergenic ARRDC2(dist=6402),IL12RB1(dist=38492) chr19 18131313 18131313 A G het . 2 +intergenic ARRDC2(dist=11221),IL12RB1(dist=33673) chr19 18136132 18136132 - T het . 3 +intergenic ARRDC2(dist=16433),IL12RB1(dist=28461) chr19 18141344 18141344 C T het . 6 +intergenic ARRDC2(dist=17085),IL12RB1(dist=27809) chr19 18141996 18141996 C T het . 8 +intergenic ARRDC2(dist=17101),IL12RB1(dist=27793) chr19 18142012 18142012 C - het . 11 +intergenic ARRDC2(dist=17164),IL12RB1(dist=27730) chr19 18142075 18142075 G A het . 11 +intergenic ARRDC2(dist=17512),IL12RB1(dist=27382) chr19 18142423 18142423 T C het . 4 +intergenic ARRDC2(dist=17771),IL12RB1(dist=27123) chr19 18142682 18142682 T C het . 8 +intergenic ARRDC2(dist=23056),IL12RB1(dist=21838) chr19 18147967 18147967 A C het . 2 +intergenic ARRDC2(dist=39298),IL12RB1(dist=5596) chr19 18164209 18164209 G A het . 3 +intronic IL12RB1 chr19 18170642 18170642 - GG het . 3 +intronic IL12RB1 chr19 18182266 18182266 G A het . 8 +intronic MAST3 chr19 18231810 18231810 T C het . 2 +intronic MAST3 chr19 18232224 18232224 T C het . 2 +intronic MAST3 chr19 18232778 18232778 A G het . 8 +exonic MAST3 chr19 18234441 18234441 C T het . 9 +intronic MAST3 chr19 18242675 18242675 C T het . 8 +exonic MAST3 chr19 18245512 18245512 C T het . 9 +exonic MAST3 chr19 18248146 18248146 T C het . 12 +intronic MAST3 chr19 18250166 18250166 G A het . 2 +exonic MAST3 chr19 18257750 18257750 C T het . 10 +intronic MAST3 chr19 18257875 18257875 C T het . 3 +intronic MAST3 chr19 18257988 18257988 A C het . 2 +intronic MAST3 chr19 18258459 18258459 A G het . 2 +upstream;downstream PIK3R2(dist=813);MAST3(dist=676) chr19 18263175 18263175 C T het . 3 +intronic PIK3R2 chr19 18269226 18269226 G A het . 2 +intronic PIK3R2 chr19 18271576 18271576 C T het . 4 +exonic PIK3R2 chr19 18272190 18272190 A C het . 1 +exonic PIK3R2 chr19 18273047 18273047 T C het . 2 +intronic PIK3R2 chr19 18273410 18273410 A G het . 3 +intronic PIK3R2 chr19 18276856 18276856 T C het . 4 +exonic PIK3R2 chr19 18279638 18279638 T C het . 21 +intronic PIK3R2 chr19 18279816 18279816 A G het . 6 +exonic IFI30 chr19 18285944 18285944 G A het . 12 +intronic IFI30 chr19 18286546 18286546 T A het . 11 +exonic IFI30 chr19 18288069 18288069 A G het . 5 +intergenic IFI30(dist=6897),MPV17L2(dist=8209) chr19 18295831 18295831 - T het . 2 +exonic MPV17L2 chr19 18304700 18304700 A G het . 5 +intronic MPV17L2 chr19 18305578 18305578 G C het . 11 +exonic MPV17L2 chr19 18305824 18305824 C T het . 4 +UTR3 MPV17L2(NM_032683:c.*125G>C) chr19 18306990 18306990 G C het . 26 +UTR3 MPV17L2(NM_032683:c.*243C>T) chr19 18307108 18307108 C T het . 25 +intronic RAB3A chr19 18308508 18308508 C T het . 6 +exonic RAB3A chr19 18311199 18311199 A G het . 11 +intronic PDE4C chr19 18324329 18324329 C T het . 4 +exonic PDE4C chr19 18329212 18329212 G A het . 17 +exonic PDE4C chr19 18329240 18329240 T C het . 15 +exonic PDE4C chr19 18329784 18329784 C T het . 24 +intronic PDE4C chr19 18331358 18331358 C - het . 5 +exonic IQCN chr19 18368810 18368810 G T het . 7 +intronic IQCN chr19 18368969 18368969 G A het . 15 +intronic IQCN chr19 18368988 18368988 G A het . 19 +intronic IQCN chr19 18369120 18369120 G A het . 8 +intronic IQCN chr19 18369211 18369211 T G het . 14 +intronic IQCN chr19 18369270 18369270 C T het . 5 +exonic IQCN chr19 18375659 18375659 C T het . 15 +exonic IQCN chr19 18376407 18376407 T A het . 7 +exonic IQCN chr19 18376522 18376522 T G het . 22 +exonic IQCN chr19 18377496 18377496 C G het . 17 +exonic IQCN chr19 18377647 18377647 G C het . 11 +exonic IQCN chr19 18378219 18378219 A G het . 2 +intronic IQCN chr19 18383728 18383728 T C het . 2 +intergenic MIR3188(dist=1712),LSM4(dist=22357) chr19 18394683 18394683 A - het . 2 +intergenic MIR3188(dist=3326),LSM4(dist=20742) chr19 18396297 18396298 AG GA het . 26 +intronic LSM4 chr19 18423402 18423402 T C het . 7 +intronic LSM4 chr19 18426950 18426950 T C het . 3 +intronic LSM4 chr19 18433714 18433714 G A het . 8 +intergenic LSM4(dist=10359),PGPEP1(dist=7037) chr19 18444360 18444360 T G het . 2 +intergenic LSM4(dist=14400),PGPEP1(dist=2996) chr19 18448401 18448401 G A het . 2 +intronic PGPEP1 chr19 18453629 18453629 G A het . 11 +intronic PGPEP1 chr19 18453814 18453814 T - het . 6 +intronic PGPEP1 chr19 18466840 18466840 C T het . 3 +intronic PGPEP1 chr19 18468452 18468452 T G het . 4 +UTR3 PGPEP1(NM_017712:c.*3421G>A,NM_001300927:c.*3482G>A,NM_001308366:c.*3495G>A,NM_001329478:c.*3421G>A,NM_001329477:c.*3421G>A) chr19 18477814 18477814 G A het . 2 +intergenic PGPEP1(dist=12857),GDF15(dist=3150) chr19 18493620 18493620 - A het . 2 +exonic GDF15 chr19 18497024 18497024 G C het . 10 +exonic GDF15 chr19 18497137 18497137 G A het . 29 +exonic GDF15 chr19 18497141 18497141 T A het . 30 +exonic GDF15 chr19 18499151 18499151 C T het . 12 +exonic GDF15 chr19 18499238 18499238 G T het . 12 +exonic GDF15 chr19 18499292 18499292 A G het . 21 +exonic LRRC25 chr19 18502835 18502835 G A het . 19 +exonic LRRC25 chr19 18507257 18507257 C A het . 17 +intronic SSBP4 chr19 18541799 18541799 T G het . 6 +intronic SSBP4 chr19 18544677 18544677 - C het . 8 +exonic ISYNA1 chr19 18546944 18546944 G A het . 29 +intronic ISYNA1 chr19 18548824 18548824 T G het . 7 +intronic ELL chr19 18581891 18581891 A - het . 6 +intronic FKBP8 chr19 18650278 18650278 T C het . 5 +intronic FKBP8 chr19 18652844 18652844 A G het . 2 +intronic KXD1 chr19 18671740 18671740 C T het . 2 +intronic KXD1 chr19 18675612 18675612 T G het . 5 +exonic KXD1 chr19 18679379 18679379 C G het . 18 +intergenic KXD1(dist=1121),UBA52(dist=1222) chr19 18681318 18681318 T C het . 4 +intronic UBA52 chr19 18684563 18684563 C T het . 7 +UTR3 UBA52(NM_001321017:c.*4G>T,NM_001033930:c.*4G>T,NM_003333:c.*4G>T,NM_001321022:c.*4G>T,NM_001321018:c.*4G>T,NM_001321020:c.*4G>T,NM_001321019:c.*4G>T,NM_001321021:c.*4G>T) chr19 18685964 18685964 G T het . 15 +intronic REX1BD chr19 18700047 18700047 A G het . 10 +UTR3 REX1BD(NM_001100419:c.*87T>C,NM_001100418:c.*87T>C) chr19 18703077 18703077 T C het . 6 +intronic CRLF1 chr19 18707878 18707878 A C het . 6 +exonic CRLF1 chr19 18709398 18709398 C T het . 18 +intronic CRLF1 chr19 18709768 18709768 G A het . 3 +intronic TMEM59L chr19 18728254 18728254 G A het . 5 +exonic KLHL26 chr19 18775077 18775077 C T het . 5 +intergenic KLHL26(dist=2117),CRTC1(dist=10999) chr19 18783426 18783426 C T het . 3 +intronic CRTC1 chr19 18812615 18812615 A G het . 2 +intronic CRTC1 chr19 18864275 18864275 C G het . 4 +intronic CRTC1 chr19 18876208 18876208 C G het . 3 +exonic CRTC1 chr19 18879463 18879463 C T het . 9 +intronic COMP chr19 18895218 18895218 G A het . 14 +intronic COMP chr19 18897526 18897526 - G het . 5 +intergenic COMP(dist=27052),UPF1(dist=13578) chr19 18929166 18929166 C T het . 2 +intronic UPF1 chr19 18971322 18971322 T C het . 6 +downstream CERS1,GDF1,UPF1(dist=31) chr19 18979324 18979324 A C het . 2 +exonic GDF1 chr19 18980172 18980172 G A het . 5 +intronic CERS1,GDF1 chr19 18980213 18980213 A G het . 5 +intronic CERS1,GDF1 chr19 18988666 18988666 T C het . 2 +intronic CERS1,GDF1 chr19 18988699 18988699 T C het . 2 +intronic CERS1,GDF1 chr19 18998844 18998844 C A het . 2 +intronic CERS1,GDF1 chr19 18998856 18998856 C T het . 2 +exonic COPE chr19 19011244 19011244 T C het . 7 +intronic COPE chr19 19011774 19011774 G C het . 2 +intronic COPE chr19 19021970 19021970 T C het . 2 +exonic COPE chr19 19023853 19023853 T C het . 18 +intronic DDX49 chr19 19032637 19032637 T C het . 6 +intronic DDX49 chr19 19035160 19035160 T - het . 5 +intronic DDX49 chr19 19035354 19035355 GC TT het . 5 +intronic DDX49 chr19 19036021 19036021 T C het . 2 +intronic DDX49 chr19 19036063 19036063 C A het . 3 +intronic DDX49 chr19 19038873 19038873 T G het . 14 +intronic DDX49 chr19 19038877 19038877 T G het . 13 +downstream DDX49,HOMER3(dist=520) chr19 19039490 19039490 T G het . 2 +downstream DDX49,HOMER3(dist=102) chr19 19039908 19039908 G A het . 2 +exonic HOMER3 chr19 19040312 19040312 G C het . 8 +exonic HOMER3 chr19 19049194 19049194 G A het . 6 +ncRNA_intronic HOMER3-AS1 chr19 19056052 19056052 T G het . 3 +exonic SUGP2 chr19 19105259 19105259 G A het . 10 +intronic ARMC6 chr19 19149992 19149992 G A het . 4 +exonic SLC25A42 chr19 19212658 19212658 G A het . 18 +intronic SLC25A42 chr19 19212824 19212824 T - het . 5 +intronic SLC25A42 chr19 19215612 19215612 - A het . 10 +exonic TMEM161A chr19 19230868 19230868 A G het . 25 +intronic TMEM161A chr19 19244033 19244033 C T het . 12 +intronic BORCS8-MEF2B,MEF2B chr19 19279409 19279409 G T het . 2 +intronic BORCS8,BORCS8-MEF2B chr19 19294389 19294389 T C het . 2 +intronic BORCS8,BORCS8-MEF2B chr19 19298950 19298950 C T het . 2 +exonic RFXANK chr19 19304871 19304871 T G het . 23 +exonic RFXANK chr19 19304899 19304899 G C het . 28 +intronic RFXANK chr19 19304965 19304965 A G het . 22 +intergenic NR2C2AP(dist=2100),NCAN(dist=6444) chr19 19316338 19316338 T C het . 2 +intronic NCAN chr19 19330155 19330155 G A het . 2 +intronic NCAN chr19 19335083 19335083 A G het . 3 +intronic NCAN chr19 19344525 19344525 C T het . 7 +intronic NCAN chr19 19344579 19344579 C T het . 8 +exonic NCAN chr19 19345802 19345802 C T het . 10 +intronic NCAN chr19 19351353 19351353 T C het . 7 +intronic TM6SF2 chr19 19380646 19380646 T C het . 7 +exonic TM6SF2 chr19 19380996 19380996 G T het . 5 +exonic SUGP1 chr19 19391045 19391045 G A het . 13 +intronic SUGP1 chr19 19403410 19403410 A G het . 2 +intronic MAU2 chr19 19431963 19431963 G T het . 5 +exonic MAU2 chr19 19446936 19446936 G A het . 17 +intronic MAU2 chr19 19447933 19447933 - T het . 14 +exonic MAU2 chr19 19449686 19449686 G T het . 10 +intronic MAU2 chr19 19451591 19451591 A G het . 3 +intronic MAU2 chr19 19452249 19452249 G A het . 7 +intronic MAU2 chr19 19453521 19453521 T G het . 7 +intronic MAU2 chr19 19453560 19453560 C A het . 15 +intronic MAU2 chr19 19453742 19453742 A G het . 8 +intronic MAU2 chr19 19454828 19454828 G A het . 3 +intronic MAU2 chr19 19462299 19462299 - G het . 2 +intronic MAU2 chr19 19465954 19465954 G A het . 2 +intronic MAU2 chr19 19466269 19466269 C T het . 3 +downstream MAU2(dist=863) chr19 19470426 19470426 T C het . 2 +intergenic MAU2(dist=2242),GATAD2A(dist=24807) chr19 19471805 19471805 G A het . 4 +intergenic MAU2(dist=3882),GATAD2A(dist=23167) chr19 19473445 19473445 T C het . 2 +intergenic MAU2(dist=13303),GATAD2A(dist=13746) chr19 19482866 19482866 T - het . 2 +intronic GATAD2A chr19 19498867 19498867 C T het . 1 +intronic GATAD2A chr19 19508013 19508013 A G het . 3 +intronic GATAD2A chr19 19545990 19545990 T C het . 7 +intronic GATAD2A chr19 19547086 19547086 T C het . 5 +intronic GATAD2A chr19 19582992 19582992 C T het . 3 +intronic GATAD2A chr19 19605348 19605348 T C het . 3 +exonic GATAD2A chr19 19606634 19606634 G A het . 13 +exonic TSSK6 chr19 19625547 19625547 A G het . 20 +intronic NDUFA13 chr19 19627202 19627202 T G het . 11 +intronic NDUFA13 chr19 19629380 19629382 TTT - het . 2 +intronic YJEFN3 chr19 19646272 19646272 T C het . 8 +UTR3 YJEFN3(NM_001190328:c.*13G>C,NM_198537:c.*13G>C) chr19 19648346 19648346 G C het . 8 +downstream PBX4(dist=249) chr19 19672267 19672267 C T het . 2 +intronic PBX4 chr19 19679992 19679992 G C het . 2 +intronic PBX4 chr19 19689633 19689633 G A het . 2 +intronic PBX4 chr19 19694369 19694369 - TG het . 3 +intronic PBX4 chr19 19715794 19715794 T C het . 2 +intronic PBX4 chr19 19725456 19725456 A G het . 3 +intergenic PBX4(dist=2131),LPAR2(dist=2610) chr19 19731856 19731856 T C het . 2 +exonic LPAR2 chr19 19735257 19735257 G T het . 16 +exonic LPAR2 chr19 19737686 19737686 C T het . 9 +UTR3 GMIP(NM_016573:c.*43G>C,NM_001288999:c.*43G>C,NM_001288998:c.*43G>C) chr19 19740729 19740729 C G het . 2 +intronic ATP13A1 chr19 19756662 19756662 T C het . 7 +intronic ATP13A1 chr19 19765269 19765269 G C het . 2 +exonic ATP13A1 chr19 19766726 19766726 G A het . 21 +intronic ATP13A1 chr19 19770334 19770334 C T het . 2 +intronic ATP13A1 chr19 19772722 19772722 G A het . 2 +intronic ATP13A1 chr19 19773923 19773923 G A het . 6 +intronic ZNF101 chr19 19783420 19783420 T C het . 2 +intronic ZNF101 chr19 19789425 19789425 A - het . 5 +intronic ZNF101 chr19 19789441 19789441 C A het . 6 +exonic ZNF101 chr19 19790178 19790178 A G het . 15 +intergenic ZNF101(dist=15735),ZNF14(dist=11231) chr19 19810050 19810050 G A het . 17 +intergenic ZNF101(dist=15763),ZNF14(dist=11203) chr19 19810078 19810078 T C het . 10 +intergenic ZNF101(dist=24889),ZNF14(dist=2077) chr19 19819204 19819204 A G het . 2 +UTR3 ZNF14(NM_021030:c.*112A>G) chr19 19822049 19822049 T C het . 2 +intronic ZNF14 chr19 19824850 19824850 T G het . 10 +intronic ZNF14 chr19 19825432 19825432 C T het . 2 +intronic ZNF14 chr19 19827096 19827100 TTTAT - het . 2 +intronic ZNF14 chr19 19843036 19843036 T A het . 3 +ncRNA_exonic LINC00663 chr19 19868200 19868203 AAAC - het . 5 +ncRNA_intronic LINC00663 chr19 19870876 19870876 C T het . 2 +ncRNA_intronic LINC00663 chr19 19878814 19878814 C T het . 2 +UTR5 ZNF56(NM_001355194:c.-410T>C) chr19 19945780 19945780 T C het . 4 +exonic ZNF56 chr19 19946637 19946637 A G het . 22 +UTR5 ZNF253(NM_001331133:c.-14221A>T,NM_001331134:c.-25584A>T) chr19 19976701 19976701 A T het . 10 +intergenic ZNF93(dist=2173),ZNF682(dist=66672) chr19 20048555 20048555 T C het . 10 +intergenic ZNF93(dist=41409),ZNF682(dist=27436) chr19 20087791 20087791 G A het . 1 +intergenic ZNF93(dist=50724),ZNF682(dist=18121) chr19 20097106 20097106 T C het . 2 +intergenic ZNF93(dist=51748),ZNF682(dist=17097) chr19 20098130 20098130 T A het . 2 +intergenic ZNF93(dist=54969),ZNF682(dist=13876) chr19 20101351 20101351 A G het . 2 +intergenic ZNF93(dist=64010),ZNF682(dist=4835) chr19 20110392 20110392 A G het . 5 +downstream ZNF682(dist=986) chr19 20114241 20114241 T C het . 2 +exonic ZNF682 chr19 20117685 20117685 G A het . 18 +intronic ZNF682 chr19 20134050 20134050 G A het . 4 +intronic ZNF682 chr19 20136391 20136391 T C het . 2 +intronic ZNF682 chr19 20144768 20144768 C T het . 3 +intronic ZNF682 chr19 20150125 20150125 T C het . 15 +UTR5 ZNF682(NM_033196:c.-21C>G) chr19 20150175 20150175 G C het . 19 +UTR5 ZNF682(NM_033196:c.-93T>G) chr19 20150247 20150247 A C het . 5 +intergenic ZNF682(dist=9474),ZNF90(dist=29052) chr19 20159751 20159751 C T het . 4 +intergenic ZNF682(dist=16828),ZNF90(dist=21698) chr19 20167105 20167105 C T het . 5 +intergenic ZNF682(dist=19817),ZNF90(dist=18708) chr19 20170094 20170095 AG TA het . 2 +intergenic ZNF682(dist=24975),ZNF90(dist=13551) chr19 20175252 20175252 G A het . 3 +upstream ZNF90(dist=70) chr19 20188733 20188733 A C het . 7 +upstream ZNF90(dist=58) chr19 20188745 20188745 T C het . 9 +intronic ZNF90 chr19 20190698 20190698 - GG het . 14 +intronic ZNF90 chr19 20214528 20214528 G A het . 10 +intronic ZNF90 chr19 20215785 20215785 A G het . 2 +intergenic ZNF90(dist=13827),ZNF486(dist=32219) chr19 20245804 20245804 C A het . 2 +intronic ZNF486 chr19 20286078 20286078 C T het . 3 +intronic ZNF486 chr19 20295146 20295146 G A het . 17 +intronic ZNF486 chr19 20296738 20296738 C G het . 8 +intronic ZNF486 chr19 20297019 20297019 - TTTA het . 3 +intergenic ZNF486(dist=37886),MIR1270(dist=160896) chr19 20349185 20349185 G A het . 5 +intergenic ZNF486(dist=48516),MIR1270(dist=150266) chr19 20359815 20359815 G A het . 5 +intergenic ZNF486(dist=48651),MIR1270(dist=150131) chr19 20359950 20359950 T C het . 7 +intergenic ZNF486(dist=58204),MIR1270(dist=140578) chr19 20369503 20369503 C G het . 16 +intergenic ZNF486(dist=76821),MIR1270(dist=121961) chr19 20388120 20388120 G A het . 2 +intergenic ZNF486(dist=76841),MIR1270(dist=121941) chr19 20388140 20388140 T C het . 2 +intergenic ZNF486(dist=98301),MIR1270(dist=100481) chr19 20409600 20409600 C T het . 2 +intergenic ZNF486(dist=102955),MIR1270(dist=95827) chr19 20414254 20414254 A G het . 6 +intergenic ZNF486(dist=169465),MIR1270(dist=29317) chr19 20480764 20480764 T C het . 8 +intergenic ZNF486(dist=173470),MIR1270(dist=25312) chr19 20484769 20484769 G A het . 2 +ncRNA_intronic ZNF826P chr19 20605443 20605443 G C het . 2 +intergenic ZNF826P(dist=7176),ZNF737(dist=105851) chr19 20614947 20614947 A - het . 2 +intergenic ZNF826P(dist=34254),ZNF737(dist=78773) chr19 20642025 20642025 T C het . 2 +intergenic ZNF826P(dist=41076),ZNF737(dist=71951) chr19 20648847 20648847 A G het . 2 +intergenic ZNF826P(dist=48277),ZNF737(dist=64750) chr19 20656048 20656048 A G het . 2 +intergenic ZNF826P(dist=63266),ZNF737(dist=49761) chr19 20671037 20671037 C G het . 2 +intergenic ZNF826P(dist=65032),ZNF737(dist=47995) chr19 20672803 20672803 G T het . 1 +intergenic ZNF826P(dist=65039),ZNF737(dist=47988) chr19 20672810 20672810 G A het . 1 +intergenic ZNF826P(dist=72498),ZNF737(dist=40529) chr19 20680269 20680269 A G het . 6 +intergenic ZNF826P(dist=72507),ZNF737(dist=40520) chr19 20680278 20680278 A G het . 7 +intergenic ZNF826P(dist=72651),ZNF737(dist=40376) chr19 20680422 20680422 A G het . 3 +intergenic ZNF826P(dist=75263),ZNF737(dist=37764) chr19 20683034 20683034 - G het . 1 +intergenic ZNF826P(dist=75268),ZNF737(dist=37759) chr19 20683039 20683039 T A het . 1 +intergenic ZNF826P(dist=75272),ZNF737(dist=37755) chr19 20683043 20683043 G A het . 2 +intergenic ZNF826P(dist=100094),ZNF737(dist=12933) chr19 20707865 20707865 G A het . 4 +UTR3 ZNF737(NM_001159293:c.*265C>G) chr19 20727133 20727133 G C het . 1 +UTR3 ZNF737(NM_001159293:c.*254T>C) chr19 20727144 20727144 A G het . 2 +exonic ZNF737 chr19 20727463 20727463 T C het . 16 +exonic ZNF737 chr19 20727932 20727932 G A het . 13 +intronic ZNF737 chr19 20734950 20734950 T C het . 2 +intronic ZNF737 chr19 20735196 20735196 A T het . 8 +intronic ZNF737 chr19 20735272 20735272 T C het . 10 +intronic ZNF737 chr19 20735667 20735667 C A het . 2 +intronic ZNF737 chr19 20736281 20736281 A G het . 3 +intronic ZNF737 chr19 20736476 20736476 T C het . 18 +intronic ZNF737 chr19 20736677 20736677 A G het . 8 +intronic ZNF737 chr19 20737100 20737100 G A het . 11 +intronic ZNF737 chr19 20737118 20737118 C T het . 13 +intronic ZNF737 chr19 20737226 20737226 G T het . 13 +intergenic ZNF737(dist=8574),ZNF626(dist=45545) chr19 20757200 20757200 G A het . 2 +intergenic ZNF737(dist=34984),ZNF626(dist=19135) chr19 20783610 20783610 A G het . 2 +UTR3 ZNF626(NM_001076675:c.*348T>C) chr19 20806748 20806748 A G het . 6 +UTR3 ZNF626(NM_001076675:c.*325_*326insTG) chr19 20806770 20806770 - CA het . 5 +UTR3 ZNF626(NM_001076675:c.*272A>G) chr19 20806824 20806824 T C het . 2 +UTR3 ZNF626(NM_001076675:c.*203A>G) chr19 20806893 20806893 T C het . 9 +exonic ZNF626 chr19 20807177 20807177 - A het . 5 +exonic ZNF626 chr19 20807185 20807185 C T het . 2 +exonic ZNF626 chr19 20808149 20808149 A G het . 24 +intronic ZNF626 chr19 20808515 20808515 T A het . 5 +intronic ZNF626 chr19 20808652 20808652 - A het . 2 +intronic ZNF626 chr19 20824671 20824671 A G het . 2 +intronic ZNF626 chr19 20828777 20828778 CT TG het . 3 +intronic ZNF626 chr19 20828796 20828796 T G het . 3 +intronic ZNF626 chr19 20829303 20829303 G T het . 8 +intergenic ZNF626(dist=1364),ZNF66(dist=113344) chr19 20845766 20845766 A G het . 5 +intergenic ZNF626(dist=1569),ZNF66(dist=113139) chr19 20845971 20845971 C T het . 2 +intergenic ZNF626(dist=23336),ZNF66(dist=91372) chr19 20867738 20867738 T A het . 2 +intergenic ZNF626(dist=30249),ZNF66(dist=84459) chr19 20874651 20874651 T C het . 17 +intergenic ZNF626(dist=30336),ZNF66(dist=84372) chr19 20874738 20874738 C G het . 13 +intergenic ZNF626(dist=34028),ZNF66(dist=80680) chr19 20878430 20878430 G C het . 12 +intergenic ZNF626(dist=34816),ZNF66(dist=79892) chr19 20879218 20879218 T A het . 8 +intergenic ZNF626(dist=39128),ZNF66(dist=75580) chr19 20883530 20883530 G T het . 2 +intergenic ZNF626(dist=70855),ZNF66(dist=43853) chr19 20915257 20915257 T C het . 2 +UTR5 ZNF66(NM_001355197:c.-113C>G) chr19 20959141 20959141 C G het . 7 +intronic ZNF66 chr19 20974645 20974645 T C het . 4 +intronic ZNF66 chr19 20976104 20976113 TTTTCTTTTC - het . 4 +exonic ZNF66 chr19 20988708 20988708 G A het . 4 +intergenic ZNF66(dist=14443),ZNF85(dist=98815) chr19 21007244 21007244 C T het . 3 +intergenic ZNF66(dist=23684),ZNF85(dist=89574) chr19 21016485 21016485 T C het . 2 +intergenic ZNF66(dist=28688),ZNF85(dist=84570) chr19 21021489 21021489 C G het . 3 +intergenic ZNF66(dist=43918),ZNF85(dist=69340) chr19 21036719 21036719 G A het . 3 +intergenic ZNF66(dist=43935),ZNF85(dist=69323) chr19 21036736 21036736 C A het . 2 +intergenic ZNF66(dist=110635),ZNF85(dist=2623) chr19 21103436 21103436 G T het . 2 +intergenic ZNF66(dist=110771),ZNF85(dist=2487) chr19 21103572 21103572 C T het . 2 +intronic ZNF85 chr19 21108924 21108924 T C het . 3 +intronic ZNF85 chr19 21120153 21120153 A G het . 16 +intronic ZNF85 chr19 21123994 21123994 G A het . 1 +intronic ZNF85 chr19 21130884 21130884 C G het . 2 +exonic ZNF85 chr19 21131728 21131728 A G het . 19 +intergenic ZNF85(dist=6229),ZNF430(dist=63694) chr19 21139732 21139732 G C het . 2 +intergenic ZNF85(dist=24870),ZNF430(dist=45053) chr19 21158373 21158373 C T het . 3 +UTR5 ZNF430(NM_025189:c.-55C>T,NM_001172671:c.-55C>T) chr19 21203552 21203552 C T het . 16 +intronic ZNF430 chr19 21216153 21216153 A G het . 5 +intronic ZNF430 chr19 21217111 21217111 - T het . 2 +intronic ZNF430 chr19 21232355 21232355 G A het . 2 +intergenic ZNF430(dist=10119),ZNF714(dist=11982) chr19 21252971 21252971 - A het . 2 +intronic ZNF714 chr19 21265171 21265171 C T het . 10 +intronic ZNF714 chr19 21265197 21265197 G T het . 7 +intronic ZNF714 chr19 21286521 21286521 C T het . 2 +intronic ZNF714 chr19 21293527 21293527 T C het . 3 +exonic ZNF714 chr19 21299774 21299774 - ATA het . 27 +exonic ZNF714 chr19 21300462 21300462 A G het . 17 +downstream ZNF714(dist=718) chr19 21308601 21308601 G T het . 2 +intronic ZNF431 chr19 21332573 21332573 G A het . 14 +intronic ZNF431 chr19 21350482 21350482 - A het . 9 +intronic ZNF431 chr19 21350521 21350521 A - het . 7 +intronic ZNF431 chr19 21354941 21354941 - AC het . 4 +intronic ZNF431 chr19 21358343 21358343 A T het . 6 +intergenic ZNF431(dist=29967),ZNF708(dist=75190) chr19 21398772 21398772 A - het . 3 +intergenic ZNF431(dist=35810),ZNF708(dist=69347) chr19 21404615 21404615 A G het . 5 +intergenic ZNF431(dist=39052),ZNF708(dist=66105) chr19 21407857 21407857 G T het . 9 +intergenic ZNF431(dist=58032),ZNF708(dist=47125) chr19 21426837 21426837 A G het . 2 +intergenic ZNF431(dist=58572),ZNF708(dist=46585) chr19 21427377 21427377 A G het . 6 +intergenic ZNF431(dist=58589),ZNF708(dist=46568) chr19 21427394 21427394 C T het . 5 +intergenic ZNF431(dist=85100),ZNF708(dist=20057) chr19 21453905 21453905 T G het . 2 +intergenic ZNF431(dist=90228),ZNF708(dist=14929) chr19 21459033 21459033 C T het . 4 +exonic ZNF708 chr19 21477431 21477431 T C het . 21 +intronic ZNF708 chr19 21493258 21493258 T A het . 16 +UTR5 ZNF738(NM_001355240:c.-137T>C,NM_001355239:c.-137T>C,NM_001355241:c.-137T>C,NM_001355237:c.-137T>C) chr19 21541806 21541806 T C het . 9 +intronic ZNF738 chr19 21543980 21543980 C T het . 2 +intronic ZNF738 chr19 21544462 21544462 G A het . 5 +intronic ZNF738 chr19 21544466 21544466 C G het . 5 +intronic ZNF738 chr19 21544503 21544503 C T het . 12 +intronic ZNF738 chr19 21544514 21544514 A G het . 14 +exonic ZNF738 chr19 21544571 21544571 G A het . 16 +intronic ZNF738 chr19 21557455 21557455 A G het . 7 +intronic ZNF738 chr19 21557461 21557461 A G het . 7 +intronic ZNF738 chr19 21558311 21558311 C T het . 3 +intronic ZNF738 chr19 21564001 21564001 A G het . 9 +intronic ZNF493 chr19 21587918 21587918 G T het . 8 +intronic ZNF493 chr19 21595330 21595330 - TC het . 3 +intronic ZNF493 chr19 21595732 21595732 C T het . 5 +intronic ZNF493 chr19 21596327 21596327 G A het . 3 +exonic ZNF493 chr19 21606429 21606429 G T het . 16 +UTR3 ZNF493(NM_001076678:c.*93_*96delTAAT,NM_175910:c.*93_*96delTAAT) chr19 21607879 21607882 TAAT - het . 12 +intergenic ZNF493(dist=25059),LINC00664(dist=31162) chr19 21635355 21635355 A G het . 2 +intergenic ZNF493(dist=51627),LINC00664(dist=4594) chr19 21661923 21661923 T C het . 2 +UTR5 ZNF429(NM_001346916:c.-24958C>T,NM_001346915:c.-24058C>T,NM_001346914:c.-24058C>T,NM_001346913:c.-24058C>T,NM_001346912:c.-372C>T,NM_001001415:c.-79C>T) chr19 21688495 21688495 C T het . 4 +UTR5 ZNF429(NM_001346914:c.-23951C>G,NM_001346912:c.-265C>G) chr19 21688602 21688602 C G het . 11 +intronic ZNF429 chr19 21697768 21697768 T C het . 3 +exonic ZNF429 chr19 21719401 21719401 T C het . 19 +intergenic ZNF429(dist=4550),LOC400682(dist=104451) chr19 21728019 21728019 G A het . 4 +intergenic ZNF429(dist=4645),LOC400682(dist=104356) chr19 21728114 21728114 G A het . 3 +intergenic ZNF429(dist=5843),LOC400682(dist=103158) chr19 21729312 21729312 - C het . 2 +intergenic ZNF429(dist=13075),LOC400682(dist=95926) chr19 21736544 21736544 T C het . 5 +intergenic ZNF429(dist=13319),LOC400682(dist=95682) chr19 21736788 21736788 T C het . 16 +intergenic ZNF429(dist=13369),LOC400682(dist=95632) chr19 21736838 21736838 T C het . 10 +intergenic ZNF429(dist=17116),LOC400682(dist=91885) chr19 21740585 21740585 T C het . 1 +intergenic ZNF429(dist=28309),LOC400682(dist=80692) chr19 21751778 21751778 C G het . 8 +intergenic ZNF429(dist=28321),LOC400682(dist=80680) chr19 21751790 21751790 C T het . 8 +intergenic ZNF429(dist=28342),LOC400682(dist=80659) chr19 21751811 21751811 G C het . 16 +intergenic ZNF429(dist=28374),LOC400682(dist=80627) chr19 21751843 21751843 A G het . 17 +intergenic ZNF429(dist=28420),LOC400682(dist=80581) chr19 21751889 21751889 G A het . 25 +intergenic ZNF429(dist=28540),LOC400682(dist=80461) chr19 21752009 21752009 A G het . 14 +intergenic ZNF429(dist=28672),LOC400682(dist=80329) chr19 21752141 21752141 C T het . 4 +intergenic ZNF429(dist=50061),LOC400682(dist=58940) chr19 21773530 21773530 C G het . 1 +intergenic ZNF429(dist=58581),LOC400682(dist=50420) chr19 21782050 21782050 G A het . 2 +intergenic ZNF429(dist=63700),LOC400682(dist=45301) chr19 21787169 21787169 T C het . 2 +intergenic ZNF429(dist=76512),LOC400682(dist=32489) chr19 21799981 21799981 C T het . 2 +intergenic ZNF429(dist=89681),LOC400682(dist=19320) chr19 21813150 21813150 A T het . 2 +intergenic ZNF429(dist=94321),LOC400682(dist=14680) chr19 21817790 21817790 T C het . 7 +intergenic ZNF429(dist=94437),LOC400682(dist=14564) chr19 21817906 21817906 C T het . 2 +intergenic ZNF429(dist=94449),LOC400682(dist=14552) chr19 21817918 21817918 T C het . 2 +intergenic ZNF429(dist=94475),LOC400682(dist=14526) chr19 21817944 21817944 - G het . 2 +intergenic ZNF429(dist=95348),LOC400682(dist=13653) chr19 21818817 21818817 A G het . 3 +intergenic ZNF429(dist=97338),LOC400682(dist=11663) chr19 21820807 21820807 T G het . 9 +intergenic ZNF429(dist=97552),LOC400682(dist=11449) chr19 21821021 21821021 A G het . 6 +intergenic ZNF429(dist=99040),LOC400682(dist=9961) chr19 21822509 21822509 G A het . 1 +intergenic ZNF429(dist=99065),LOC400682(dist=9936) chr19 21822534 21822534 A G het . 2 +intergenic ZNF429(dist=102383),LOC400682(dist=6618) chr19 21825852 21825852 A G het . 1 +intergenic ZNF429(dist=102476),LOC400682(dist=6525) chr19 21825945 21825945 G A het . 4 +intergenic ZNF429(dist=102799),LOC400682(dist=6202) chr19 21826268 21826268 C T het . 3 +intergenic ZNF429(dist=102805),LOC400682(dist=6196) chr19 21826274 21826274 - TT het . 3 +intergenic ZNF429(dist=107375),LOC400682(dist=1626) chr19 21830844 21830844 C A het . 3 +intergenic ZNF429(dist=107416),LOC400682(dist=1585) chr19 21830885 21830885 G A het . 3 +ncRNA_intronic LOC400682 chr19 21835924 21835929 ACACAC - het . 4 +ncRNA_exonic LOC400682 chr19 21838113 21838113 - GAT het . 4 +ncRNA_exonic LOC400682 chr19 21838146 21838147 CA TG het . 7 +ncRNA_exonic LOC400682 chr19 21838351 21838351 A G het . 9 +ncRNA_exonic LOC400682 chr19 21838492 21838492 C G het . 13 +ncRNA_exonic LOC400682 chr19 21838551 21838551 T C het . 15 +ncRNA_exonic LOC400682 chr19 21838565 21838565 T C het . 17 +ncRNA_exonic LOC400682 chr19 21838657 21838657 G A het . 23 +ncRNA_exonic LOC400682 chr19 21838785 21838785 C T het . 12 +ncRNA_exonic LOC400682 chr19 21838830 21838830 A C het . 6 +intergenic LOC400682(dist=8739),ZNF100(dist=56694) chr19 21850149 21850149 T C het . 3 +intergenic LOC400682(dist=9575),ZNF100(dist=55858) chr19 21850985 21850985 G A het . 4 +intergenic LOC400682(dist=16185),ZNF100(dist=49248) chr19 21857595 21857595 - A het . 3 +exonic ZNF100 chr19 21909948 21909948 G A het . 16 +intronic ZNF100 chr19 21927706 21927706 C T het . 2 +ncRNA_exonic LOC641367 chr19 21933943 21933943 C T het . 12 +ncRNA_exonic LOC641367 chr19 21934556 21934556 C A het . 4 +UTR5 ZNF100(NM_173531:c.-171A>G,NM_001351672:c.-39934A>G,NM_001351671:c.-23565A>G,NM_001351670:c.-171A>G,NM_001351669:c.-171A>G) chr19 21950402 21950402 T C het . 3 +intergenic ZNF100(dist=9126),ZNF43(dist=28195) chr19 21959556 21959556 A - het . 3 +intergenic ZNF100(dist=10874),ZNF43(dist=26447) chr19 21961304 21961304 T C het . 2 +intergenic ZNF100(dist=14114),ZNF43(dist=23207) chr19 21964544 21964544 T - het . 5 +intergenic ZNF100(dist=14124),ZNF43(dist=23197) chr19 21964554 21964554 - T het . 5 +intergenic ZNF100(dist=14392),ZNF43(dist=22929) chr19 21964822 21964822 A G het . 4 +intergenic ZNF100(dist=25340),ZNF43(dist=11981) chr19 21975770 21975770 A C het . 2 +intronic ZNF43 chr19 22018782 22018782 C A het . 14 +intergenic ZNF43(dist=47115),ZNF208(dist=40583) chr19 22081985 22081985 T A het . 3 +intergenic ZNF43(dist=61590),ZNF208(dist=26108) chr19 22096460 22096460 T C het . 2 +intergenic ZNF43(dist=68605),ZNF208(dist=19093) chr19 22103475 22103475 C G het . 2 +intronic ZNF208 chr19 22126992 22126992 G T het . 2 +intronic ZNF208 chr19 22144040 22144040 G A het . 2 +UTR3 ZNF208(NM_007153:c.*498T>A) chr19 22153495 22153495 A T het . 19 +UTR3 ZNF208(NM_007153:c.*297C>T) chr19 22153696 22153696 G A het . 7 +UTR3 ZNF208(NM_007153:c.*185G>A) chr19 22153808 22153808 C T het . 16 +exonic ZNF208 chr19 22154732 22154732 T C het . 10 +exonic ZNF208 chr19 22154954 22154954 C T het . 25 +exonic ZNF208 chr19 22156482 22156482 G T het . 15 +exonic ZNF208 chr19 22156992 22156992 C T het . 34 +exonic ZNF208 chr19 22157302 22157302 G A het . 4 +intronic ZNF208 chr19 22158402 22158402 T A het . 2 +intronic ZNF208 chr19 22169773 22169773 A G het . 2 +intronic ZNF208 chr19 22171880 22171880 C T het . 2 +intronic ZNF208 chr19 22174872 22174872 A G het . 2 +intronic ZNF208 chr19 22193451 22193451 C G het . 3 +UTR5 ZNF257(NM_001316998:c.-35474C>G,NM_001316997:c.-35474C>G,NM_001316996:c.-20397C>G,NM_033468:c.-128C>G) chr19 22235307 22235307 C G het . 6 +intronic ZNF257 chr19 22235491 22235491 T G het . 11 +intronic ZNF257 chr19 22235526 22235526 T C het . 11 +intronic ZNF257 chr19 22235577 22235577 C T het . 6 +intronic ZNF257 chr19 22239281 22239281 T - het . 2 +intronic ZNF257 chr19 22255797 22255797 T - het . 5 +UTR3 ZNF257(NM_001316998:c.*139C>A,NM_001316997:c.*139C>A,NM_001316996:c.*139C>A,NM_033468:c.*139C>A) chr19 22272383 22272383 C A het . 8 +intergenic ZNF257(dist=47353),ZNF676(dist=40647) chr19 22321256 22321256 T C het . 29 +intergenic ZNF257(dist=61074),ZNF676(dist=26926) chr19 22334977 22334977 T C het . 2 +intergenic ZNF257(dist=81672),ZNF676(dist=6328) chr19 22355575 22355575 T A het . 4 +UTR3 ZNF676(NM_001001411:c.*163_*162delAC) chr19 22362589 22362590 GT - het . 10 +exonic ZNF676 chr19 22364233 22364233 C T het . 24 +intronic ZNF676 chr19 22364492 22364492 A T het . 8 +intronic ZNF676 chr19 22367925 22367925 G T het . 2 +exonic ZNF676 chr19 22375868 22375868 C T het . 16 +UTR5 ZNF676(NM_001001411:c.-152C>A) chr19 22379587 22379587 G T het . 5 +intronic ZNF729 chr19 22486535 22486535 A G het . 8 +downstream ZNF729(dist=55) chr19 22500033 22500033 G A het . 10 +intergenic ZNF729(dist=1340),ZNF98(dist=72581) chr19 22501318 22501318 - A het . 7 +intergenic ZNF729(dist=44827),ZNF98(dist=29094) chr19 22544805 22544805 A G het . 2 +intergenic ZNF729(dist=51394),ZNF98(dist=22527) chr19 22551372 22551372 - T het . 14 +intergenic ZNF729(dist=51484),ZNF98(dist=22437) chr19 22551462 22551462 C T het . 21 +intergenic ZNF729(dist=51854),ZNF98(dist=22067) chr19 22551832 22551832 C T het . 5 +intronic ZNF98 chr19 22589489 22589489 C G het . 2 +intronic ZNF98 chr19 22590585 22590585 C G het . 2 +UTR5 ZNF98(NM_001098626:c.-77C>G) chr19 22605103 22605103 G C het . 8 +UTR5 ZNF98(NM_001098626:c.-94C>A) chr19 22605120 22605120 G T het . 7 +intergenic ZNF98(dist=22062),LOC101929124(dist=76587) chr19 22627210 22627210 G T het . 2 +intergenic ZNF98(dist=49278),LOC101929124(dist=49371) chr19 22654426 22654426 C G het . 23 +exonic ZNF99 chr19 22941971 22941971 C T het . 31 +intronic ZNF99 chr19 22943540 22943540 T C het . 1 +intronic ZNF99 chr19 22952563 22952563 A - het . 6 +intergenic ZNF723(dist=39916),ZNF728(dist=76300) chr19 23081385 23081385 - T het . 2 +intergenic ZNF723(dist=48127),ZNF728(dist=68089) chr19 23089596 23089596 G A het . 2 +intergenic ZNF723(dist=66779),ZNF728(dist=49437) chr19 23108248 23108248 T C het . 3 +intergenic ZNF723(dist=78669),ZNF728(dist=37547) chr19 23120138 23120138 A G het . 2 +intronic ZNF728 chr19 23183464 23183464 C G het . 2 +intronic ZNF730 chr19 23307881 23307881 G A het . 2 +intronic ZNF730 chr19 23309463 23309463 - T het . 8 +intronic ZNF730 chr19 23309477 23309477 C G het . 8 +intronic ZNF730 chr19 23309514 23309514 G C het . 13 +intronic ZNF730 chr19 23309863 23309863 A G het . 23 +intronic ZNF730 chr19 23311160 23311160 C T het . 5 +intronic ZNF730 chr19 23313130 23313130 T C het . 4 +intronic ZNF730 chr19 23327714 23327714 G A het . 3 +exonic ZNF730 chr19 23328940 23328940 G A het . 22 +intergenic ZNF730(dist=25155),ZNF724(dist=49232) chr19 23355169 23355169 C A het . 2 +intergenic ZNF730(dist=42978),ZNF724(dist=31409) chr19 23372992 23372992 T C het . 2 +intergenic ZNF730(dist=42984),ZNF724(dist=31403) chr19 23372998 23372998 A C het . 2 +intergenic ZNF730(dist=43186),ZNF724(dist=31201) chr19 23373200 23373200 G T het . 2 +intergenic ZNF730(dist=46167),ZNF724(dist=28220) chr19 23376181 23376181 T C het . 2 +intergenic ZNF730(dist=62372),ZNF724(dist=12014) chr19 23392386 23392387 AT TC het . 2 +intergenic ZNF730(dist=69960),ZNF724(dist=4427) chr19 23399974 23399974 C T het . 2 +exonic ZNF724 chr19 23405457 23405457 T G het . 24 +exonic ZNF724 chr19 23405580 23405580 T C het . 10 +exonic ZNF724 chr19 23406165 23406165 T C het . 12 +exonic ZNF724 chr19 23406801 23406801 G C het . 4 +intronic ZNF724 chr19 23407856 23407856 C A het . 3 +intronic ZNF724 chr19 23408760 23408760 C G het . 2 +intronic ZNF724 chr19 23414167 23414167 T G het . 7 +intronic ZNF724 chr19 23426453 23426453 G A het . 2 +UTR5 ZNF724(NM_001355406:c.-18027C>G,NM_001355405:c.-19006C>G,NM_001355404:c.-63C>G) chr19 23433107 23433107 G C het . 13 +ncRNA_exonic IPO5P1 chr19 23438039 23438039 T A het . 3 +intergenic IPO5P1(dist=1226),ZNF91(dist=82219) chr19 23458279 23458279 A - het . 2 +intergenic IPO5P1(dist=1244),ZNF91(dist=82201) chr19 23458297 23458297 G C het . 2 +intergenic IPO5P1(dist=1249),ZNF91(dist=82196) chr19 23458302 23458302 G C het . 2 +intergenic IPO5P1(dist=5125),ZNF91(dist=78320) chr19 23462178 23462178 C T het . 2 +UTR3 ZNF91(NM_003430:c.*184C>A,NM_001300951:c.*184C>A) chr19 23542021 23542021 G T het . 5 +exonic ZNF91 chr19 23542697 23542697 G C het . 24 +exonic ZNF91 chr19 23545250 23545250 A G het . 19 +intronic ZNF91 chr19 23546973 23546973 C T het . 2 +intronic ZNF91 chr19 23564265 23564265 T - het . 2 +intronic ZNF91 chr19 23567697 23567697 T C het . 10 +intronic ZNF91 chr19 23578068 23578068 C A het . 12 +intergenic LINC01224(dist=52103),ZNF675(dist=184729) chr19 23650979 23650979 C A het . 4 +intergenic LINC01224(dist=53113),ZNF675(dist=183717) chr19 23651989 23651991 TCT - het . 5 +intergenic LINC01224(dist=88184),ZNF675(dist=148648) chr19 23687060 23687060 C T het . 2 +intergenic LINC01224(dist=90549),ZNF675(dist=146283) chr19 23689425 23689425 - A het . 4 +intergenic LINC01224(dist=155970),ZNF675(dist=80862) chr19 23754846 23754846 A G het . 3 +intergenic LINC01224(dist=158052),ZNF675(dist=78780) chr19 23756928 23756928 G A het . 6 +intergenic LINC01224(dist=176066),ZNF675(dist=60766) chr19 23774942 23774942 G T het . 3 +intergenic LINC01224(dist=176659),ZNF675(dist=60173) chr19 23775535 23775535 A G het . 2 +intergenic LINC01224(dist=180257),ZNF675(dist=56575) chr19 23779133 23779133 C T het . 9 +intergenic LINC01224(dist=181238),ZNF675(dist=55594) chr19 23780114 23780114 G C het . 12 +intergenic LINC01224(dist=210432),ZNF675(dist=26400) chr19 23809308 23809308 A G het . 2 +intergenic LINC01224(dist=210476),ZNF675(dist=26356) chr19 23809352 23809352 T C het . 3 +intergenic LINC01224(dist=214892),ZNF675(dist=21940) chr19 23813768 23813768 G C het . 2 +intergenic LINC01224(dist=226459),ZNF675(dist=10373) chr19 23825335 23825335 - A het . 2 +intergenic LINC01224(dist=229239),ZNF675(dist=7593) chr19 23828115 23828115 A G het . 1 +intergenic LINC01224(dist=229254),ZNF675(dist=7578) chr19 23828130 23828130 A G het . 2 +intergenic LINC01224(dist=231612),ZNF675(dist=5220) chr19 23830488 23830488 C T het . 2 +exonic ZNF675 chr19 23837145 23837145 A G het . 33 +exonic ZNF675 chr19 23837365 23837365 A C het . 25 +intronic ZNF675 chr19 23837633 23837634 TG CA het . 4 +intronic ZNF675 chr19 23839336 23839336 T C het . 2 +intronic ZNF675 chr19 23840825 23840825 G A het . 2 +intronic ZNF675 chr19 23845038 23845038 T G het . 12 +intronic ZNF675 chr19 23845042 23845042 T C het . 12 +intronic ZNF675 chr19 23845796 23845796 A - het . 11 +intronic ZNF675 chr19 23856678 23856678 G A het . 3 +intronic ZNF675 chr19 23858390 23858390 C G het . 3 +intronic ZNF675 chr19 23865653 23865653 C T het . 1 +intronic ZNF675 chr19 23865671 23865671 A G het . 2 +intronic ZNF675 chr19 23868921 23868921 G A het . 3 +intronic ZNF675 chr19 23869684 23869684 G A het . 6 +intronic ZNF675 chr19 23869823 23869823 T G het . 18 +UTR5 ZNF675(NM_138330:c.-106T>C) chr19 23869941 23869941 A G het . 6 +upstream ZNF675(dist=64) chr19 23870081 23870095 CCTGACCCTTCAGGC - het . 2 +intergenic ZNF675(dist=25087),ZNF681(dist=26893) chr19 23895104 23895104 A G het . 2 +intergenic ZNF675(dist=25090),ZNF681(dist=26890) chr19 23895107 23895107 C T het . 2 +intergenic ZNF675(dist=30311),ZNF681(dist=21669) chr19 23900328 23900328 G A het . 2 +intergenic ZNF675(dist=34071),ZNF681(dist=17909) chr19 23904088 23904088 A - het . 3 +intergenic ZNF675(dist=40131),ZNF681(dist=11849) chr19 23910148 23910148 A G het . 2 +intergenic ZNF675(dist=41756),ZNF681(dist=10224) chr19 23911773 23911773 C T het . 2 +intergenic ZNF675(dist=46728),ZNF681(dist=5252) chr19 23916745 23916745 A G het . 2 +intergenic ZNF675(dist=50562),ZNF681(dist=1418) chr19 23920579 23920579 T C het . 2 +intergenic ZNF675(dist=50577),ZNF681(dist=1403) chr19 23920594 23920594 C T het . 1 +UTR3 ZNF681(NM_138286:c.*82C>T) chr19 23926332 23926332 G A het . 6 +exonic ZNF681 chr19 23926708 23926708 A G het . 18 +exonic ZNF681 chr19 23927252 23927252 C T het . 8 +exonic ZNF681 chr19 23927468 23927468 A G het . 15 +exonic ZNF681 chr19 23928102 23928102 C G het . 13 +intronic ZNF681 chr19 23930088 23930088 T C het . 2 +intronic ZNF681 chr19 23932005 23932005 T C het . 2 +intronic ZNF681 chr19 23941339 23941339 T C het . 6 +intronic ZNF681 chr19 23941459 23941459 G A het . 19 +intronic RPSAP58 chr19 23989072 23989072 C G het . 2 +intronic RPSAP58 chr19 23990313 23990313 T C het . 2 +intronic RPSAP58 chr19 23990541 23990541 T A het . 2 +intronic RPSAP58 chr19 23991311 23991311 A G het . 3 +intronic RPSAP58 chr19 23991380 23991380 G T het . 2 +UTR5 RPSAP58(NM_001355287:c.-18401G>A,NM_001355283:c.-18401G>A) chr19 23991563 23991563 G A het . 13 +intronic RPSAP58 chr19 23993327 23993327 T C het . 1 +intronic RPSAP58 chr19 24000612 24000612 C T het . 2 +intronic RPSAP58 chr19 24004303 24004304 TG CC het . 2 +intronic RPSAP58 chr19 24009635 24009635 G A het . 2 +UTR5 RPSAP58(NM_001355287:c.-71_-70delinsAT,NM_001355283:c.-71_-70delinsAT) chr19 24009893 24009894 GC AT het . 10 +intergenic RPSAP58(dist=1177),ZNF726(dist=85580) chr19 24012096 24012096 G A het . 2 +intergenic RPSAP58(dist=3925),ZNF726(dist=82832) chr19 24014844 24014844 C T het . 11 +intergenic RPSAP58(dist=3931),ZNF726(dist=82826) chr19 24014850 24014850 C T het . 13 +intergenic RPSAP58(dist=4087),ZNF726(dist=82670) chr19 24015006 24015006 A G het . 8 +intergenic RPSAP58(dist=4152),ZNF726(dist=82605) chr19 24015071 24015071 G T het . 3 +intergenic RPSAP58(dist=4251),ZNF726(dist=82506) chr19 24015170 24015170 C T het . 8 +intergenic RPSAP58(dist=5127),ZNF726(dist=81630) chr19 24016046 24016046 - G het . 5 +intergenic RPSAP58(dist=7847),ZNF726(dist=78910) chr19 24018766 24018766 T C het . 2 +intergenic RPSAP58(dist=11189),ZNF726(dist=75568) chr19 24022108 24022108 G A het . 2 +intergenic RPSAP58(dist=17117),ZNF726(dist=69640) chr19 24028036 24028036 A T het . 3 +intergenic RPSAP58(dist=20296),ZNF726(dist=66461) chr19 24031215 24031215 A T het . 2 +intergenic RPSAP58(dist=34645),ZNF726(dist=52112) chr19 24045564 24045564 A - het . 3 +intergenic RPSAP58(dist=40553),ZNF726(dist=46204) chr19 24051472 24051472 T C het . 2 +intergenic RPSAP58(dist=50225),ZNF726(dist=36532) chr19 24061144 24061144 G A het . 2 +intergenic RPSAP58(dist=50312),ZNF726(dist=36445) chr19 24061231 24061231 - A het . 2 +intergenic RPSAP58(dist=50778),ZNF726(dist=35979) chr19 24061697 24061697 - AGG het . 2 +intergenic RPSAP58(dist=50800),ZNF726(dist=35957) chr19 24061719 24061719 G A het . 2 +intergenic RPSAP58(dist=51431),ZNF726(dist=35326) chr19 24062350 24062350 G A het . 2 +intergenic RPSAP58(dist=51751),ZNF726(dist=35006) chr19 24062670 24062670 A G het . 3 +intergenic RPSAP58(dist=51848),ZNF726(dist=34909) chr19 24062767 24062767 A G het . 2 +intergenic RPSAP58(dist=51859),ZNF726(dist=34896) chr19 24062778 24062780 AGA - het . 2 +intronic ZNF726 chr19 24106212 24106212 T - het . 3 +intergenic LOC100505851(dist=2674),ZNF254(dist=72778) chr19 24143429 24143429 T C het . 2 +intergenic LOC100505851(dist=71306),ZNF254(dist=4146) chr19 24212061 24212061 T C het . 2 +intronic ZNF254 chr19 24289046 24289046 C T het . 8 +intergenic HAVCR1P1(dist=162953),NONE(dist=NONE) chr19 24509202 24509202 - A het . 2 +intergenic HAVCR1P1(dist=167146),NONE(dist=NONE) chr19 24513395 24513395 G A het . 3 +intergenic HAVCR1P1(dist=169032),NONE(dist=NONE) chr19 24515281 24515281 C T het . 2 +intergenic HAVCR1P1(dist=170206),NONE(dist=NONE) chr19 24516455 24516455 T C het . 2 +intergenic HAVCR1P1(dist=170570),NONE(dist=NONE) chr19 24516819 24516819 A T het . 3 +intergenic HAVCR1P1(dist=172139),NONE(dist=NONE) chr19 24518388 24518388 G A het . 4 +intergenic HAVCR1P1(dist=172513),NONE(dist=NONE) chr19 24518762 24518762 C G het . 3 +intergenic HAVCR1P1(dist=174568),NONE(dist=NONE) chr19 24520817 24520817 G A het . 3 +intergenic HAVCR1P1(dist=175107),NONE(dist=NONE) chr19 24521356 24521356 A G het . 2 +intergenic HAVCR1P1(dist=175433),NONE(dist=NONE) chr19 24521682 24521682 C G het . 2 +intergenic HAVCR1P1(dist=176528),NONE(dist=NONE) chr19 24522777 24522777 G C het . 3 +intergenic HAVCR1P1(dist=177933),NONE(dist=NONE) chr19 24524182 24524182 A G het . 3 +intergenic HAVCR1P1(dist=178224),NONE(dist=NONE) chr19 24524473 24524473 G T het . 3 +intergenic HAVCR1P1(dist=178328),NONE(dist=NONE) chr19 24524577 24524577 T G het . 3 +intergenic HAVCR1P1(dist=180523),NONE(dist=NONE) chr19 24526772 24526772 T C het . 2 +intergenic HAVCR1P1(dist=181629),NONE(dist=NONE) chr19 24527878 24527878 C T het . 3 +intergenic HAVCR1P1(dist=183869),NONE(dist=NONE) chr19 24530118 24530118 G A het . 3 +intergenic HAVCR1P1(dist=184155),NONE(dist=NONE) chr19 24530404 24530405 TT CG het . 2 +intergenic HAVCR1P1(dist=184623),NONE(dist=NONE) chr19 24530872 24530872 G A het . 2 +intergenic HAVCR1P1(dist=186085),NONE(dist=NONE) chr19 24532334 24532334 T C het . 2 +intergenic HAVCR1P1(dist=186225),NONE(dist=NONE) chr19 24532474 24532474 A G het . 4 +intergenic HAVCR1P1(dist=186386),NONE(dist=NONE) chr19 24532635 24532635 G T het . 2 +intergenic HAVCR1P1(dist=186654),NONE(dist=NONE) chr19 24532903 24532903 G A het . 3 +intergenic HAVCR1P1(dist=187375),NONE(dist=NONE) chr19 24533624 24533624 T C het . 2 +intergenic HAVCR1P1(dist=187585),NONE(dist=NONE) chr19 24533834 24533834 C T het . 2 +intergenic HAVCR1P1(dist=187803),NONE(dist=NONE) chr19 24534052 24534052 T C het . 3 +intergenic HAVCR1P1(dist=187903),NONE(dist=NONE) chr19 24534152 24534152 C T het . 1 +intergenic HAVCR1P1(dist=188087),NONE(dist=NONE) chr19 24534336 24534336 T C het . 2 +intergenic HAVCR1P1(dist=188103),NONE(dist=NONE) chr19 24534352 24534352 T C het . 3 +intergenic HAVCR1P1(dist=188142),NONE(dist=NONE) chr19 24534391 24534391 G A het . 4 +intergenic HAVCR1P1(dist=190352),NONE(dist=NONE) chr19 24536601 24536601 T C het . 3 +intergenic HAVCR1P1(dist=190439),NONE(dist=NONE) chr19 24536688 24536688 G A het . 2 +intergenic HAVCR1P1(dist=190633),NONE(dist=NONE) chr19 24536882 24536882 A G het . 4 +intergenic HAVCR1P1(dist=191608),NONE(dist=NONE) chr19 24537857 24537857 C T het . 3 +intergenic HAVCR1P1(dist=194151),NONE(dist=NONE) chr19 24540400 24540400 G A het . 3 +intergenic HAVCR1P1(dist=196016),NONE(dist=NONE) chr19 24542265 24542265 G A het . 4 +intergenic HAVCR1P1(dist=197635),NONE(dist=NONE) chr19 24543884 24543884 T C het . 4 +intergenic HAVCR1P1(dist=198264),NONE(dist=NONE) chr19 24544513 24544513 C T het . 4 +intergenic HAVCR1P1(dist=199226),NONE(dist=NONE) chr19 24545475 24545475 C G het . 1 +intergenic HAVCR1P1(dist=199243),NONE(dist=NONE) chr19 24545492 24545492 T C het . 2 +intergenic HAVCR1P1(dist=200812),NONE(dist=NONE) chr19 24547061 24547061 C G het . 2 +intergenic HAVCR1P1(dist=200885),NONE(dist=NONE) chr19 24547134 24547134 A C het . 2 +intergenic HAVCR1P1(dist=201259),NONE(dist=NONE) chr19 24547508 24547508 A G het . 2 +intergenic HAVCR1P1(dist=202693),NONE(dist=NONE) chr19 24548942 24548942 C T het . 3 +intergenic HAVCR1P1(dist=206280),NONE(dist=NONE) chr19 24552529 24552529 C T het . 4 +intergenic HAVCR1P1(dist=206330),NONE(dist=NONE) chr19 24552579 24552579 A T het . 4 +intergenic HAVCR1P1(dist=207452),NONE(dist=NONE) chr19 24553701 24553701 G A het . 3 +intergenic HAVCR1P1(dist=208215),NONE(dist=NONE) chr19 24554464 24554464 G A het . 2 +intergenic HAVCR1P1(dist=208337),NONE(dist=NONE) chr19 24554586 24554586 G A het . 1 +intergenic HAVCR1P1(dist=209040),NONE(dist=NONE) chr19 24555289 24555289 G A het . 4 +intergenic HAVCR1P1(dist=209641),NONE(dist=NONE) chr19 24555890 24555890 C G het . 5 +intergenic HAVCR1P1(dist=210253),NONE(dist=NONE) chr19 24556502 24556502 A T het . 3 +intergenic HAVCR1P1(dist=210351),NONE(dist=NONE) chr19 24556600 24556600 T C het . 2 +intergenic HAVCR1P1(dist=211473),NONE(dist=NONE) chr19 24557722 24557722 C G het . 1 +intergenic HAVCR1P1(dist=211492),NONE(dist=NONE) chr19 24557741 24557741 - AT het . 2 +intergenic HAVCR1P1(dist=211543),NONE(dist=NONE) chr19 24557792 24557792 T A het . 2 +intergenic HAVCR1P1(dist=211608),NONE(dist=NONE) chr19 24557857 24557857 T C het . 3 +intergenic HAVCR1P1(dist=211825),NONE(dist=NONE) chr19 24558074 24558074 C T het . 2 +intergenic HAVCR1P1(dist=211840),NONE(dist=NONE) chr19 24558089 24558089 C A het . 1 +intergenic HAVCR1P1(dist=211968),NONE(dist=NONE) chr19 24558217 24558217 G A het . 2 +intergenic HAVCR1P1(dist=213108),NONE(dist=NONE) chr19 24559357 24559357 A T het . 2 +intergenic HAVCR1P1(dist=213608),NONE(dist=NONE) chr19 24559857 24559857 T C het . 2 +intergenic HAVCR1P1(dist=213726),NONE(dist=NONE) chr19 24559975 24559975 A G het . 3 +intergenic HAVCR1P1(dist=213738),NONE(dist=NONE) chr19 24559987 24559987 C G het . 2 +intergenic HAVCR1P1(dist=214190),NONE(dist=NONE) chr19 24560439 24560439 G A het . 5 +intergenic HAVCR1P1(dist=214604),NONE(dist=NONE) chr19 24560853 24560853 T A het . 3 +intergenic HAVCR1P1(dist=214613),NONE(dist=NONE) chr19 24560862 24560862 T G het . 3 +intergenic HAVCR1P1(dist=215940),NONE(dist=NONE) chr19 24562189 24562189 G T het . 5 +intergenic HAVCR1P1(dist=215986),NONE(dist=NONE) chr19 24562235 24562235 T C het . 4 +intergenic HAVCR1P1(dist=216822),NONE(dist=NONE) chr19 24563071 24563071 G A het . 2 +intergenic HAVCR1P1(dist=216944),NONE(dist=NONE) chr19 24563193 24563193 A T het . 2 +intergenic HAVCR1P1(dist=217529),NONE(dist=NONE) chr19 24563778 24563778 T C het . 3 +intergenic HAVCR1P1(dist=218115),NONE(dist=NONE) chr19 24564364 24564364 T C het . 2 +intergenic HAVCR1P1(dist=220080),NONE(dist=NONE) chr19 24566329 24566329 A G het . 2 +intergenic HAVCR1P1(dist=220682),NONE(dist=NONE) chr19 24566931 24566934 TTGA - het . 2 +intergenic HAVCR1P1(dist=221527),NONE(dist=NONE) chr19 24567776 24567776 T G het . 2 +intergenic HAVCR1P1(dist=221733),NONE(dist=NONE) chr19 24567982 24567982 G A het . 2 +intergenic HAVCR1P1(dist=222293),NONE(dist=NONE) chr19 24568542 24568542 G T het . 2 +intergenic HAVCR1P1(dist=224681),NONE(dist=NONE) chr19 24570930 24570930 G A het . 2 +intergenic HAVCR1P1(dist=225142),NONE(dist=NONE) chr19 24571391 24571391 G A het . 3 +intergenic HAVCR1P1(dist=226855),NONE(dist=NONE) chr19 24573104 24573104 A G het . 2 +intergenic HAVCR1P1(dist=227050),NONE(dist=NONE) chr19 24573299 24573299 C T het . 2 +intergenic HAVCR1P1(dist=228224),NONE(dist=NONE) chr19 24574473 24574473 A T het . 4 +intergenic HAVCR1P1(dist=229510),NONE(dist=NONE) chr19 24575759 24575759 G A het . 2 +intergenic HAVCR1P1(dist=229962),NONE(dist=NONE) chr19 24576211 24576211 C T het . 2 +intergenic HAVCR1P1(dist=231011),NONE(dist=NONE) chr19 24577260 24577260 G A het . 1 +intergenic HAVCR1P1(dist=234199),NONE(dist=NONE) chr19 24580448 24580448 T G het . 1 +intergenic HAVCR1P1(dist=236736),NONE(dist=NONE) chr19 24582985 24582985 C G het . 2 +intergenic HAVCR1P1(dist=236747),NONE(dist=NONE) chr19 24582996 24582996 A T het . 2 +intergenic HAVCR1P1(dist=236914),NONE(dist=NONE) chr19 24583163 24583163 T C het . 2 +intergenic HAVCR1P1(dist=236972),NONE(dist=NONE) chr19 24583221 24583221 G A het . 3 +intergenic HAVCR1P1(dist=237832),NONE(dist=NONE) chr19 24584081 24584081 A G het . 4 +intergenic HAVCR1P1(dist=237881),NONE(dist=NONE) chr19 24584130 24584130 T A het . 3 +intergenic HAVCR1P1(dist=238132),NONE(dist=NONE) chr19 24584381 24584381 C T het . 2 +intergenic HAVCR1P1(dist=239050),NONE(dist=NONE) chr19 24585299 24585299 T C het . 3 +intergenic HAVCR1P1(dist=240622),NONE(dist=NONE) chr19 24586871 24586871 A T het . 2 +intergenic HAVCR1P1(dist=247478),NONE(dist=NONE) chr19 24593727 24593727 A C het . 4 +intergenic HAVCR1P1(dist=247566),NONE(dist=NONE) chr19 24593815 24593815 T G het . 2 +intergenic HAVCR1P1(dist=248029),NONE(dist=NONE) chr19 24594278 24594278 G C het . 2 +intergenic HAVCR1P1(dist=248303),NONE(dist=NONE) chr19 24594552 24594552 A G het . 2 +intergenic HAVCR1P1(dist=248710),NONE(dist=NONE) chr19 24594959 24594959 T - het . 3 +intergenic HAVCR1P1(dist=248726),NONE(dist=NONE) chr19 24594975 24594975 T C het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=549143) chr19 27732258 27732258 C T het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=548667) chr19 27732734 27732734 A C het . 16 +intergenic NONE(dist=NONE),LINC00662(dist=548660) chr19 27732741 27732741 A T het . 17 +intergenic NONE(dist=NONE),LINC00662(dist=548134) chr19 27733267 27733267 G C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=548131) chr19 27733270 27733270 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=547132) chr19 27734269 27734269 A C het . 7 +intergenic NONE(dist=NONE),LINC00662(dist=547129) chr19 27734272 27734272 A G het . 7 +intergenic NONE(dist=NONE),LINC00662(dist=547120) chr19 27734281 27734281 A C het . 7 +intergenic NONE(dist=NONE),LINC00662(dist=547107) chr19 27734294 27734294 G T het . 7 +intergenic NONE(dist=NONE),LINC00662(dist=546969) chr19 27734432 27734432 C G het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=542476) chr19 27738925 27738925 C T het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=542470) chr19 27738931 27738931 T G het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=542462) chr19 27738939 27738939 G T het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=541182) chr19 27740219 27740219 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=452301) chr19 27829100 27829100 A G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=452297) chr19 27829104 27829104 G T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=452278) chr19 27829123 27829123 T G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=451945) chr19 27829456 27829456 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=451176) chr19 27830225 27830225 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=450906) chr19 27830495 27830495 C T het . 7 +intergenic NONE(dist=NONE),LINC00662(dist=450646) chr19 27830755 27830755 C G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=450637) chr19 27830764 27830764 T G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=450317) chr19 27831084 27831084 C T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=450292) chr19 27831109 27831109 C T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=444349) chr19 27837052 27837052 C T het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=443434) chr19 27837967 27837967 C G het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=442768) chr19 27838633 27838633 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=442166) chr19 27839235 27839235 T C het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=442095) chr19 27839306 27839306 T - het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=442076) chr19 27839325 27839325 C T het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=441403) chr19 27839998 27839998 C T het . 5 +intergenic NONE(dist=NONE),LINC00662(dist=441373) chr19 27840028 27840028 A G het . 5 +intergenic NONE(dist=NONE),LINC00662(dist=441365) chr19 27840036 27840036 C G het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=441268) chr19 27840133 27840133 A T het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=441230) chr19 27840171 27840171 A C het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=441139) chr19 27840262 27840262 T G het . 1 +intergenic NONE(dist=NONE),LINC00662(dist=441116) chr19 27840285 27840285 C T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=441104) chr19 27840297 27840297 G T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=441097) chr19 27840304 27840304 C T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=441090) chr19 27840311 27840311 T A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=441082) chr19 27840319 27840319 T C het . 1 +intergenic NONE(dist=NONE),LINC00662(dist=440966) chr19 27840435 27840435 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=439520) chr19 27841881 27841881 C G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=438654) chr19 27842747 27842747 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=436174) chr19 27845227 27845227 T A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=435370) chr19 27846031 27846031 T A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=435304) chr19 27846097 27846097 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=435298) chr19 27846103 27846103 A G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=434793) chr19 27846608 27846608 G - het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=434004) chr19 27847397 27847397 G A het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=433988) chr19 27847413 27847413 A G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=433483) chr19 27847918 27847918 A C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=432944) chr19 27848457 27848457 A T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=431721) chr19 27849680 27849680 G A het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=431395) chr19 27850006 27850006 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=431393) chr19 27850008 27850008 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=431330) chr19 27850071 27850071 - AA het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=431329) chr19 27850072 27850072 - A het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=430773) chr19 27850628 27850628 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=430352) chr19 27851049 27851049 A C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=429694) chr19 27851707 27851707 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=429658) chr19 27851743 27851743 A T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=429008) chr19 27852393 27852393 C T het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=428819) chr19 27852582 27852582 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=428815) chr19 27852586 27852586 C T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=428793) chr19 27852608 27852608 C A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=428659) chr19 27852742 27852742 C T het . 1 +intergenic NONE(dist=NONE),LINC00662(dist=428462) chr19 27852938 27852939 AG GT het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=427820) chr19 27853581 27853581 T C het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=427453) chr19 27853948 27853948 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=427289) chr19 27854112 27854112 A T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=425307) chr19 27856094 27856094 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=425121) chr19 27856280 27856280 A G het . 1 +intergenic NONE(dist=NONE),LINC00662(dist=425119) chr19 27856282 27856282 C G het . 1 +intergenic NONE(dist=NONE),LINC00662(dist=425097) chr19 27856304 27856304 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=425083) chr19 27856318 27856318 C T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=424649) chr19 27856752 27856752 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=424144) chr19 27857257 27857257 C T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=422530) chr19 27858871 27858871 C A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=422515) chr19 27858886 27858886 G A het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=422477) chr19 27858924 27858924 T A het . 1 +intergenic NONE(dist=NONE),LINC00662(dist=422064) chr19 27859337 27859337 C T het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=421586) chr19 27859815 27859815 - TG het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=421359) chr19 27860042 27860042 A T het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=421335) chr19 27860066 27860066 G A het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=420643) chr19 27860758 27860758 G A het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=420635) chr19 27860766 27860766 T C het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=420412) chr19 27860989 27860989 G T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=420200) chr19 27861201 27861201 C T het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=419775) chr19 27861626 27861626 T A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=419574) chr19 27861827 27861827 C T het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=415182) chr19 27866219 27866219 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=415152) chr19 27866249 27866249 C G het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=415086) chr19 27866315 27866315 G C het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=414950) chr19 27866451 27866451 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=414938) chr19 27866463 27866463 A G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=414762) chr19 27866639 27866639 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=414273) chr19 27867128 27867128 T C het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=414216) chr19 27867185 27867185 G A het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=414204) chr19 27867197 27867197 A G het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=414183) chr19 27867218 27867218 C T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=413782) chr19 27867619 27867619 A G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=412069) chr19 27869332 27869332 G A het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=411999) chr19 27869402 27869402 C A het . 5 +intergenic NONE(dist=NONE),LINC00662(dist=411994) chr19 27869407 27869407 C T het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=411922) chr19 27869479 27869479 C T het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=411472) chr19 27869929 27869929 A C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=411273) chr19 27870127 27870128 AT GC het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=411268) chr19 27870133 27870133 C G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=411262) chr19 27870139 27870139 C T het . 1 +intergenic NONE(dist=NONE),LINC00662(dist=407368) chr19 27874033 27874033 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=407314) chr19 27874087 27874087 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=407309) chr19 27874092 27874092 C A het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=407095) chr19 27874306 27874306 T A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=407072) chr19 27874328 27874329 GT CA het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=407053) chr19 27874348 27874348 C T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=406989) chr19 27874412 27874412 C G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=406721) chr19 27874680 27874680 A G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=406632) chr19 27874769 27874769 C T het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=406527) chr19 27874874 27874874 C T het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=406525) chr19 27874876 27874876 T C het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=406522) chr19 27874879 27874879 G A het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=406369) chr19 27875032 27875032 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=405394) chr19 27876007 27876007 G A het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=404629) chr19 27876772 27876772 A C het . 1 +intergenic NONE(dist=NONE),LINC00662(dist=404423) chr19 27876978 27876978 C G het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=404093) chr19 27877308 27877308 C T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=404016) chr19 27877385 27877385 T C het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=403980) chr19 27877421 27877421 A G het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=403928) chr19 27877472 27877473 GC - het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=403927) chr19 27877474 27877474 - TG het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=403558) chr19 27877843 27877843 G C het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=402720) chr19 27878681 27878681 C T het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=402702) chr19 27878699 27878699 C T het . 1 +intergenic NONE(dist=NONE),LINC00662(dist=402637) chr19 27878764 27878764 A G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=402633) chr19 27878768 27878768 T A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=402303) chr19 27879098 27879098 G C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=401633) chr19 27879768 27879768 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=401509) chr19 27879892 27879892 T G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=401397) chr19 27880004 27880004 G T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=401388) chr19 27880013 27880013 T G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=400596) chr19 27880805 27880805 T C het . 1 +intergenic NONE(dist=NONE),LINC00662(dist=400557) chr19 27880843 27880844 GT TC het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=400549) chr19 27880852 27880852 C T het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=400487) chr19 27880914 27880914 G A het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=400484) chr19 27880917 27880917 G T het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=398492) chr19 27882909 27882909 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=398484) chr19 27882917 27882917 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=397107) chr19 27884294 27884294 C T het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=395751) chr19 27885650 27885650 T A het . 4 +intergenic NONE(dist=NONE),LINC00662(dist=395728) chr19 27885673 27885673 A C het . 6 +intergenic NONE(dist=NONE),LINC00662(dist=395704) chr19 27885697 27885697 C T het . 5 +intergenic NONE(dist=NONE),LINC00662(dist=395598) chr19 27885803 27885803 T A het . 6 +intergenic NONE(dist=NONE),LINC00662(dist=395558) chr19 27885843 27885843 T C het . 6 +intergenic NONE(dist=NONE),LINC00662(dist=395544) chr19 27885856 27885857 AC TA het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=395124) chr19 27886277 27886277 T A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=394667) chr19 27886734 27886734 A G het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=393383) chr19 27888018 27888018 T C het . 1 +intergenic NONE(dist=NONE),LINC00662(dist=393348) chr19 27888053 27888053 A G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=393218) chr19 27888183 27888183 C G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=388502) chr19 27892899 27892899 A G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=357566) chr19 27923835 27923835 T G het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=226780) chr19 28054621 28054621 A G het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=214548) chr19 28066853 28066853 C A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=206797) chr19 28074604 28074604 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=81327) chr19 28200074 28200074 T C het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=79723) chr19 28201678 28201678 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=69233) chr19 28212168 28212168 T C het . 3 +intergenic NONE(dist=NONE),LINC00662(dist=68130) chr19 28213271 28213271 G A het . 2 +intergenic NONE(dist=NONE),LINC00662(dist=13460) chr19 28267941 28267941 C A het . 3 +ncRNA_intronic LOC101927151 chr19 28290230 28290230 C G het . 2 +ncRNA_intronic LOC101927151 chr19 28293293 28293293 G A het . 6 +ncRNA_intronic LOC101927151 chr19 28301362 28301362 C T het . 2 +ncRNA_intronic LOC101927151 chr19 28320035 28320035 G A het . 2 +ncRNA_intronic LOC101927151 chr19 28322345 28322345 T C het . 3 +ncRNA_intronic LOC101927151 chr19 28327214 28327214 - T het . 2 +ncRNA_intronic LOC101927151 chr19 28332369 28332369 C T het . 2 +ncRNA_intronic LOC101927151 chr19 28336904 28336904 T C het . 2 +ncRNA_intronic LOC101927151 chr19 28350587 28350587 G A het . 2 +ncRNA_intronic LOC101927151 chr19 28388022 28388022 T C het . 7 +ncRNA_intronic LOC101927151 chr19 28391470 28391470 A - het . 2 +ncRNA_intronic LOC101927151 chr19 28456038 28456038 G A het . 2 +intergenic LOC101927151(dist=14800),LOC100420587(dist=395620) chr19 28530676 28530676 C T het . 2 +intergenic LOC101927151(dist=83095),LOC100420587(dist=327325) chr19 28598971 28598971 C T het . 1 +intergenic LOC101927151(dist=102744),LOC100420587(dist=307676) chr19 28618620 28618620 C T het . 2 +intergenic LOC101927151(dist=102750),LOC100420587(dist=307670) chr19 28618626 28618626 A G het . 2 +intergenic LOC101927151(dist=108325),LOC100420587(dist=302095) chr19 28624201 28624201 T C het . 2 +intergenic LOC101927151(dist=125489),LOC100420587(dist=284931) chr19 28641365 28641365 - C het . 2 +intergenic LOC101927151(dist=125531),LOC100420587(dist=284889) chr19 28641407 28641407 G C het . 2 +intergenic LOC101927151(dist=127325),LOC100420587(dist=283095) chr19 28643201 28643201 A G het . 2 +intergenic LOC101927151(dist=132244),LOC100420587(dist=278176) chr19 28648120 28648120 C G het . 2 +intergenic LOC101927151(dist=132334),LOC100420587(dist=278086) chr19 28648210 28648210 C G het . 1 +intergenic LOC101927151(dist=134604),LOC100420587(dist=275816) chr19 28650480 28650480 A G het . 2 +intergenic LOC101927151(dist=136655),LOC100420587(dist=273765) chr19 28652531 28652531 G T het . 2 +intergenic LOC101927151(dist=178556),LOC100420587(dist=231864) chr19 28694432 28694432 G A het . 2 +intergenic LOC101927151(dist=238965),LOC100420587(dist=171455) chr19 28754841 28754841 G A het . 2 +intergenic LOC101927151(dist=243708),LOC100420587(dist=166712) chr19 28759584 28759584 C T het . 2 +intergenic LOC101927151(dist=258691),LOC100420587(dist=151729) chr19 28774567 28774567 C A het . 3 +intergenic LOC101927151(dist=262578),LOC100420587(dist=147842) chr19 28778454 28778454 T C het . 9 +intergenic LOC101927151(dist=310576),LOC100420587(dist=99844) chr19 28826452 28826452 T C het . 2 +intergenic LOC101927151(dist=310587),LOC100420587(dist=99833) chr19 28826463 28826463 A T het . 2 +intergenic LOC101927151(dist=311884),LOC100420587(dist=98536) chr19 28827760 28827760 T C het . 2 +intergenic LOC101927151(dist=319695),LOC100420587(dist=90725) chr19 28835571 28835571 G A het . 3 +intergenic LOC101927151(dist=319745),LOC100420587(dist=90675) chr19 28835621 28835621 G C het . 3 +intergenic LOC101927151(dist=322294),LOC100420587(dist=88126) chr19 28838170 28838170 G A het . 4 +intergenic LOC101927151(dist=324394),LOC100420587(dist=86026) chr19 28840270 28840270 T A het . 2 +intergenic LOC101927151(dist=331734),LOC100420587(dist=78686) chr19 28847610 28847610 C T het . 2 +intergenic LOC101927151(dist=332719),LOC100420587(dist=77701) chr19 28848595 28848595 T A het . 1 +intergenic LOC101927151(dist=370373),LOC100420587(dist=40046) chr19 28886249 28886250 GC AG het . 2 +intergenic LOC101927151(dist=391560),LOC100420587(dist=18860) chr19 28907436 28907436 C T het . 2 +intergenic LOC101927151(dist=400142),LOC100420587(dist=10278) chr19 28916018 28916018 T C het . 1 +intergenic LOC101927151(dist=400156),LOC100420587(dist=10264) chr19 28916032 28916032 A C het . 2 +ncRNA_intronic LOC100420587 chr19 28948389 28948389 T C het . 2 +ncRNA_intronic LOC100420587 chr19 28982172 28982172 - A het . 2 +ncRNA_intronic LOC100420587 chr19 29022884 29022884 G A het . 2 +ncRNA_intronic LOC100420587 chr19 29022902 29022902 G A het . 2 +ncRNA_intronic LOC100420587 chr19 29053789 29053789 T C het . 2 +ncRNA_intronic LOC100420587 chr19 29092206 29092206 T C het . 2 +ncRNA_intronic LOC100420587 chr19 29092223 29092223 T G het . 1 +ncRNA_intronic LOC100420587 chr19 29097471 29097471 C T het . 2 +ncRNA_intronic LOC100420587 chr19 29112278 29112278 T C het . 4 +ncRNA_intronic LOC100420587 chr19 29125082 29125082 A G het . 2 +ncRNA_intronic LOC100420587 chr19 29193823 29193823 T C het . 4 +intergenic LOC100420587(dist=13524),LINC00906(dist=223913) chr19 29232125 29232125 C T het . 2 +intergenic LOC100420587(dist=13527),LINC00906(dist=223910) chr19 29232128 29232128 A G het . 2 +intergenic LOC100420587(dist=14253),LINC00906(dist=223184) chr19 29232854 29232854 C T het . 3 +intergenic LOC100420587(dist=14333),LINC00906(dist=223104) chr19 29232934 29232934 A G het . 4 +intergenic LOC100420587(dist=23333),LINC00906(dist=214104) chr19 29241934 29241934 G A het . 2 +intergenic LOC100420587(dist=23336),LINC00906(dist=214101) chr19 29241937 29241937 T C het . 1 +intergenic LOC100420587(dist=32739),LINC00906(dist=204698) chr19 29251340 29251340 G T het . 2 +intergenic LOC100420587(dist=45370),LINC00906(dist=192067) chr19 29263971 29263971 C A het . 1 +intergenic LOC100420587(dist=45378),LINC00906(dist=192059) chr19 29263979 29263979 C A het . 1 +intergenic LOC100420587(dist=45393),LINC00906(dist=192044) chr19 29263994 29263994 G T het . 2 +intergenic LOC100420587(dist=64230),LINC00906(dist=173207) chr19 29282831 29282831 G T het . 12 +intergenic LOC100420587(dist=73128),LINC00906(dist=164309) chr19 29291729 29291729 G A het . 2 +intergenic LOC100420587(dist=73132),LINC00906(dist=164305) chr19 29291733 29291733 C A het . 1 +intergenic LOC100420587(dist=73245),LINC00906(dist=164192) chr19 29291846 29291846 C G het . 2 +intergenic LOC100420587(dist=88440),LINC00906(dist=148997) chr19 29307041 29307041 C T het . 2 +intergenic LOC100420587(dist=92123),LINC00906(dist=145314) chr19 29310724 29310724 G A het . 2 +intergenic LOC100420587(dist=93300),LINC00906(dist=144137) chr19 29311901 29311901 T A het . 2 +intergenic LOC100420587(dist=94051),LINC00906(dist=143384) chr19 29312652 29312654 CTC - het . 3 +intergenic LOC100420587(dist=95628),LINC00906(dist=141809) chr19 29314229 29314229 A T het . 2 +intergenic LOC100420587(dist=97495),LINC00906(dist=139942) chr19 29316096 29316096 G A het . 3 +intergenic LOC100420587(dist=140096),LINC00906(dist=97341) chr19 29358697 29358697 A G het . 1 +intergenic LOC100420587(dist=156747),LINC00906(dist=80690) chr19 29375348 29375348 G A het . 2 +intergenic LOC100420587(dist=156984),LINC00906(dist=80453) chr19 29375585 29375585 G A het . 2 +intergenic LOC100420587(dist=157256),LINC00906(dist=80181) chr19 29375857 29375857 C G het . 2 +intergenic LOC100420587(dist=157270),LINC00906(dist=80167) chr19 29375871 29375871 G A het . 2 +intergenic LOC100420587(dist=174145),LINC00906(dist=63292) chr19 29392746 29392746 C A het . 1 +intergenic LOC100420587(dist=183325),LINC00906(dist=54112) chr19 29401926 29401926 C T het . 2 +intergenic LOC100420587(dist=201845),LINC00906(dist=35592) chr19 29420446 29420446 G T het . 2 +intergenic LOC102724958(dist=27283),LINC01532(dist=4600) chr19 29488862 29488862 C A het . 3 +intergenic LINC01532(dist=6166),UQCRFS1(dist=187139) chr19 29511028 29511028 A G het . 1 +intergenic LINC01532(dist=14416),UQCRFS1(dist=178889) chr19 29519278 29519278 T C het . 2 +intergenic LINC01532(dist=130415),UQCRFS1(dist=62890) chr19 29635277 29635277 G T het . 2 +intergenic LINC01532(dist=164487),UQCRFS1(dist=28818) chr19 29669349 29669349 C G het . 2 +intergenic LINC01532(dist=191679),UQCRFS1(dist=1626) chr19 29696541 29696541 G C het . 2 +exonic UQCRFS1 chr19 29704002 29704002 T C het . 5 +exonic UQCRFS1 chr19 29704010 29704010 A C het . 6 +upstream UQCRFS1(dist=28) chr19 29704164 29704164 T C het . 3 +ncRNA_intronic LOC284395 chr19 29823430 29823430 T C het . 2 +ncRNA_intronic LOC284395 chr19 29827372 29827372 G C het . 3 +ncRNA_intronic LOC284395 chr19 29832755 29832755 T C het . 3 +ncRNA_intronic LOC284395 chr19 29848770 29848770 G T het . 2 +ncRNA_intronic LOC284395 chr19 29852282 29852282 G C het . 3 +ncRNA_intronic LOC284395 chr19 29864696 29864696 C A het . 2 +ncRNA_intronic LOC284395 chr19 29971226 29971226 T C het . 2 +ncRNA_intronic LOC284395 chr19 30013085 30013085 C T het . 2 +intronic VSTM2B chr19 30017759 30017759 C G het . 3 +exonic VSTM2B chr19 30021023 30021023 G C het . 7 +intronic VSTM2B chr19 30030578 30030578 G A het . 2 +intronic POP4 chr19 30097268 30097268 C G het . 7 +intronic POP4 chr19 30102856 30102856 A G het . 9 +intronic POP4 chr19 30105969 30105969 T G het . 2 +intergenic POP4(dist=4258),PLEKHF1(dist=43906) chr19 30112420 30112421 TT - het . 4 +intergenic POP4(dist=10004),PLEKHF1(dist=38161) chr19 30118166 30118166 C G het . 3 +intergenic POP4(dist=24466),PLEKHF1(dist=23699) chr19 30132628 30132628 - GAG het . 3 +intergenic POP4(dist=25481),PLEKHF1(dist=22684) chr19 30133643 30133643 C T het . 2 +intergenic POP4(dist=34103),PLEKHF1(dist=14062) chr19 30142265 30142265 C T het . 2 +UTR3 C19orf12(NM_001282931:c.*3229_*3226delTTTT,NM_001282930:c.*3229_*3226delTTTT,NM_001282929:c.*3229_*3226delTTTT,NM_001256047:c.*3229_*3226delTTTT,NM_001256046:c.*3276_*3273delTTTT,NM_001031726:c.*3229_*3226delTTTT,NM_031448:c.*3229_*3226delTTTT) chr19 30190390 30190393 AAAA - het . 20 +UTR3 C19orf12(NM_001282931:c.*3096_*3097insG,NM_001282930:c.*3096_*3097insG,NM_001282929:c.*3096_*3097insG,NM_001256047:c.*3096_*3097insG,NM_001256046:c.*3143_*3144insG,NM_001031726:c.*3096_*3097insG,NM_031448:c.*3096_*3097insG) chr19 30190522 30190522 - C het . 47 +UTR3 C19orf12(NM_001282931:c.*2961T>C,NM_001282930:c.*2961T>C,NM_001282929:c.*2961T>C,NM_001256047:c.*2961T>C,NM_001256046:c.*3008T>C,NM_001031726:c.*2961T>C,NM_031448:c.*2961T>C) chr19 30190658 30190658 A G het . 29 +UTR3 C19orf12(NM_001282931:c.*2790_*2791insT,NM_001282930:c.*2790_*2791insT,NM_001282929:c.*2790_*2791insT,NM_001256047:c.*2790_*2791insT,NM_001256046:c.*2837_*2838insT,NM_001031726:c.*2790_*2791insT,NM_031448:c.*2790_*2791insT) chr19 30190828 30190828 - A het . 32 +UTR3 C19orf12(NM_001282931:c.*1686T>C,NM_001282930:c.*1686T>C,NM_001282929:c.*1686T>C,NM_001256047:c.*1686T>C,NM_001256046:c.*1733T>C,NM_001031726:c.*1686T>C,NM_031448:c.*1686T>C) chr19 30191933 30191933 A G het . 28 +UTR3 C19orf12(NM_001282931:c.*1144C>T,NM_001282930:c.*1144C>T,NM_001282929:c.*1144C>T,NM_001256047:c.*1144C>T,NM_001256046:c.*1191C>T,NM_001031726:c.*1144C>T,NM_031448:c.*1144C>T) chr19 30192475 30192475 G A het . 38 +UTR3 C19orf12(NM_001282931:c.*1114C>G,NM_001282930:c.*1114C>G,NM_001282929:c.*1114C>G,NM_001256047:c.*1114C>G,NM_001256046:c.*1161C>G,NM_001031726:c.*1114C>G,NM_031448:c.*1114C>G) chr19 30192505 30192505 G C het . 39 +UTR3 C19orf12(NM_001282931:c.*1020C>A,NM_001282930:c.*1020C>A,NM_001282929:c.*1020C>A,NM_001256047:c.*1020C>A,NM_001256046:c.*1067C>A,NM_001031726:c.*1020C>A,NM_031448:c.*1020C>A) chr19 30192599 30192599 G T het . 10 +UTR3 C19orf12(NM_001282931:c.*881G>A,NM_001282930:c.*881G>A,NM_001282929:c.*881G>A,NM_001256047:c.*881G>A,NM_001256046:c.*928G>A,NM_001031726:c.*881G>A,NM_031448:c.*881G>A) chr19 30192738 30192738 C T het . 14 +UTR3 C19orf12(NM_001282931:c.*437C>G,NM_001282930:c.*437C>G,NM_001282929:c.*437C>G,NM_001256047:c.*437C>G,NM_001256046:c.*484C>G,NM_001031726:c.*437C>G,NM_031448:c.*437C>G) chr19 30193182 30193182 G C het . 21 +exonic C19orf12 chr19 30193721 30193721 G A het . 15 +intronic C19orf12 chr19 30199054 30199054 G A het . 4 +intergenic C19orf12(dist=10454),CCNE1(dist=85751) chr19 30217150 30217150 T C het . 2 +intergenic C19orf12(dist=81849),CCNE1(dist=14356) chr19 30288545 30288545 T C het . 2 +intronic CCNE1 chr19 30303714 30303714 - C het . 4 +intronic CCNE1 chr19 30311543 30311543 T - het . 6 +exonic CCNE1 chr19 30314666 30314666 C T het . 7 +intergenic CCNE1(dist=19628),URI1(dist=79699) chr19 30334852 30334852 C G het . 2 +intergenic CCNE1(dist=37997),URI1(dist=61330) chr19 30353221 30353221 T A het . 2 +intergenic CCNE1(dist=38084),URI1(dist=61243) chr19 30353308 30353308 C T het . 2 +intergenic CCNE1(dist=38088),URI1(dist=61239) chr19 30353312 30353312 C T het . 2 +intergenic CCNE1(dist=39992),URI1(dist=59335) chr19 30355216 30355216 A - het . 3 +intergenic CCNE1(dist=40496),URI1(dist=58831) chr19 30355720 30355720 - T het . 2 +intergenic CCNE1(dist=79632),URI1(dist=19695) chr19 30394856 30394856 A G het . 2 +intergenic CCNE1(dist=96727),URI1(dist=2599) chr19 30411951 30411952 TA - het . 2 +intronic URI1 chr19 30424622 30424622 A T het . 2 +intronic URI1 chr19 30426594 30426594 C T het . 2 +intronic URI1 chr19 30426598 30426598 G C het . 2 +intronic URI1 chr19 30427788 30427788 C T het . 2 +intronic URI1 chr19 30427808 30427808 C T het . 2 +intronic URI1 chr19 30443728 30443728 G A het . 2 +intronic URI1 chr19 30447714 30447714 G C het . 6 +intronic URI1 chr19 30450711 30450711 - T het . 2 +intronic URI1 chr19 30451298 30451298 A G het . 2 +intronic URI1 chr19 30451540 30451540 C T het . 2 +intronic URI1 chr19 30454342 30454342 G T het . 2 +exonic URI1 chr19 30500119 30500124 TGATGA - het . 16 +exonic URI1 chr19 30500233 30500233 T A het . 6 +intergenic URI1(dist=14418),ZNF536(dist=341363) chr19 30521937 30521937 C T het . 3 +intergenic URI1(dist=18952),ZNF536(dist=336829) chr19 30526471 30526471 C T het . 2 +intergenic URI1(dist=21557),ZNF536(dist=334224) chr19 30529076 30529076 - GAT het . 8 +intergenic URI1(dist=24469),ZNF536(dist=331312) chr19 30531988 30531988 A T het . 8 +intergenic URI1(dist=26859),ZNF536(dist=328922) chr19 30534378 30534378 T C het . 3 +intergenic URI1(dist=31425),ZNF536(dist=324356) chr19 30538944 30538944 T C het . 2 +intergenic URI1(dist=31940),ZNF536(dist=323841) chr19 30539459 30539459 T C het . 2 +intergenic URI1(dist=36463),ZNF536(dist=319318) chr19 30543982 30543982 T - het . 2 +intergenic URI1(dist=290396),ZNF536(dist=65385) chr19 30797915 30797915 C A het . 2 +intergenic URI1(dist=316586),ZNF536(dist=39195) chr19 30824105 30824105 G T het . 2 +intergenic URI1(dist=321871),ZNF536(dist=33910) chr19 30829390 30829390 - TGATGA het . 4 +intronic ZNF536 chr19 30901259 30901259 A G het . 3 +intronic ZNF536 chr19 30920679 30920679 G T het . 2 +intronic ZNF536 chr19 30939360 30939360 G A het . 3 +intronic ZNF536 chr19 30945942 30945942 - AAAC het . 6 +intronic ZNF536 chr19 31028277 31028277 T C het . 2 +intronic ZNF536 chr19 31091031 31091031 - T het . 2 +intergenic ZNF536(dist=36212),LINC01791(dist=417711) chr19 31240705 31240705 C T het . 2 +intergenic ZNF536(dist=42311),LINC01791(dist=411612) chr19 31246804 31246804 C T het . 3 +intergenic ZNF536(dist=62069),LINC01791(dist=391854) chr19 31266562 31266562 T A het . 2 +intergenic ZNF536(dist=72112),LINC01791(dist=381811) chr19 31276605 31276605 T C het . 2 +intergenic ZNF536(dist=103012),LINC01791(dist=350911) chr19 31307505 31307505 C G het . 2 +intergenic ZNF536(dist=104284),LINC01791(dist=349639) chr19 31308777 31308777 G A het . 2 +intergenic ZNF536(dist=106075),LINC01791(dist=347848) chr19 31310568 31310568 T C het . 2 +intergenic ZNF536(dist=132222),LINC01791(dist=321701) chr19 31336715 31336715 A G het . 2 +intergenic ZNF536(dist=382346),LINC01791(dist=71577) chr19 31586839 31586839 G T het . 2 +intergenic ZNF536(dist=433078),LINC01791(dist=20845) chr19 31637571 31637571 G C het . 1 +upstream LINC01791(dist=762) chr19 31657654 31657654 T C het . 2 +ncRNA_intronic LINC01791 chr19 31678651 31678651 G T het . 2 +ncRNA_intronic LINC01791 chr19 31686169 31686169 A T het . 3 +intergenic LINC01791(dist=2271),TSHZ3(dist=65011) chr19 31700840 31700840 A G het . 2 +intergenic LINC01791(dist=5485),TSHZ3(dist=61797) chr19 31704054 31704054 G A het . 2 +intergenic LINC01791(dist=5657),TSHZ3(dist=61625) chr19 31704226 31704226 G A het . 2 +exonic TSHZ3 chr19 31769763 31769763 G A het . 19 +exonic TSHZ3 chr19 31770009 31770009 C T het . 5 +intronic TSHZ3 chr19 31802723 31802723 G A het . 2 +UTR5 TSHZ3(NM_020856:c.-66delC) chr19 31840191 31840191 G - het . 9 +intergenic TSHZ3(dist=44907),THEG5(dist=193757) chr19 31885338 31885338 T C het . 3 +intergenic TSHZ3(dist=50316),THEG5(dist=188348) chr19 31890747 31890747 G T het . 3 +intergenic TSHZ3(dist=50338),THEG5(dist=188326) chr19 31890769 31890769 A G het . 3 +intergenic TSHZ3(dist=184238),THEG5(dist=54426) chr19 32024669 32024669 A G het . 2 +exonic THEG5 chr19 32083696 32083696 T C het . 18 +intergenic THEG5(dist=41926),LINC01533(dist=390155) chr19 32126613 32126613 T G het . 2 +intergenic THEG5(dist=41950),LINC01533(dist=390131) chr19 32126637 32126637 G C het . 2 +intergenic THEG5(dist=45262),LINC01533(dist=386819) chr19 32129949 32129949 - AAAC het . 3 +intergenic THEG5(dist=71167),LINC01533(dist=360914) chr19 32155854 32155854 - T het . 3 +intergenic THEG5(dist=162835),LINC01533(dist=269246) chr19 32247522 32247522 T C het . 2 +intergenic THEG5(dist=217287),LINC01533(dist=214794) chr19 32301974 32301974 G C het . 3 +intergenic THEG5(dist=222898),LINC01533(dist=209180) chr19 32307585 32307588 TTCT - het . 2 +intergenic THEG5(dist=222985),LINC01533(dist=209096) chr19 32307672 32307672 C A het . 2 +intergenic THEG5(dist=401321),LINC01533(dist=30760) chr19 32486008 32486008 T A het . 2 +intergenic LINC01533(dist=30005),LINC01782(dist=23188) chr19 32569810 32569810 - AA het . 2 +intergenic LINC01782(dist=102967),ZNF507(dist=136725) chr19 32699789 32699789 C A het . 2 +intergenic LINC01782(dist=112220),ZNF507(dist=127472) chr19 32709042 32709042 T C het . 4 +intergenic LINC01782(dist=216612),ZNF507(dist=23076) chr19 32813434 32813438 AAAGG - het . 3 +intergenic LINC01782(dist=227488),ZNF507(dist=12204) chr19 32824310 32824310 C A het . 3 +exonic ZNF507 chr19 32873698 32873698 A G het . 15 +UTR3 ZNF507(NM_001136156:c.*1780A>G,NM_014910:c.*1780A>G) chr19 32875769 32875769 A G het . 2 +intronic DPY19L3 chr19 32899293 32899293 G A het . 17 +intronic DPY19L3 chr19 32902050 32902050 A C het . 10 +intronic DPY19L3 chr19 32927311 32927311 G A het . 10 +intronic DPY19L3 chr19 32929850 32929855 GATGAT - het . 3 +intronic DPY19L3 chr19 32930507 32930507 A G het . 2 +intronic DPY19L3 chr19 32940433 32940433 G A het . 2 +intronic DPY19L3 chr19 32946043 32946043 A T het . 21 +intronic DPY19L3 chr19 32959425 32959425 T C het . 1 +exonic DPY19L3 chr19 32973077 32973077 C T het . 20 +intergenic DPY19L3(dist=27402),PDCD5(dist=67893) chr19 33004201 33004201 G A het . 2 +intergenic DPY19L3(dist=92313),PDCD5(dist=2982) chr19 33069112 33069112 T G het . 3 +UTR5 PDCD5(NM_004708:c.-50C>G) chr19 33072118 33072118 C G het . 8 +intronic PDCD5 chr19 33072266 33072266 T C het . 7 +intronic PDCD5 chr19 33076973 33076973 T A het . 19 +exonic ANKRD27 chr19 33098632 33098632 G C het . 8 +ncRNA_exonic SNORA68B chr19 33099277 33099277 T C het . 10 +ncRNA_exonic SNORA68B chr19 33099305 33099305 T C het . 14 +ncRNA_exonic SNORA68B chr19 33099336 33099336 A G het . 13 +intronic ANKRD27 chr19 33099413 33099413 - A het . 7 +intronic ANKRD27 chr19 33099504 33099504 T C het . 13 +intronic ANKRD27 chr19 33099523 33099523 A G het . 6 +exonic ANKRD27 chr19 33106621 33106621 C T het . 18 +intronic ANKRD27 chr19 33108663 33108663 T C het . 5 +exonic ANKRD27 chr19 33110204 33110204 T C het . 4 +exonic ANKRD27 chr19 33117666 33117666 T C het . 12 +intronic ANKRD27 chr19 33119883 33119883 A G het . 7 +intronic ANKRD27 chr19 33130496 33130496 T C het . 11 +intronic ANKRD27 chr19 33130866 33130866 T C het . 2 +intronic ANKRD27 chr19 33131336 33131336 T C het . 6 +intronic ANKRD27 chr19 33133937 33133937 G - het . 8 +intronic ANKRD27 chr19 33134425 33134425 G A het . 13 +intronic ANKRD27 chr19 33135458 33135458 C T het . 4 +intronic ANKRD27 chr19 33149768 33149768 G A het . 5 +exonic RGS9BP chr19 33167455 33167455 G T het . 4 +UTR3 RGS9BP(NM_207391:c.*2G>A) chr19 33167879 33167879 G A het . 21 +exonic NUDT19 chr19 33183265 33183265 T C het . 13 +downstream TDRD12(dist=9) chr19 33281723 33281723 - T het . 7 +intronic SLC7A9 chr19 33321717 33321717 A G het . 10 +exonic CEP89 chr19 33370183 33370183 T A het . 17 +exonic CEP89 chr19 33390796 33390796 G A het . 28 +intronic CEP89 chr19 33391006 33391006 T G het . 6 +intronic CEP89 chr19 33391684 33391684 T C het . 2 +intronic CEP89 chr19 33397705 33397705 A G het . 2 +intronic CEP89 chr19 33400133 33400133 G C het . 2 +intronic CEP89 chr19 33402700 33402700 T C het . 3 +intronic CEP89 chr19 33406207 33406207 A - het . 10 +intronic CEP89 chr19 33406442 33406442 A G het . 15 +intronic CEP89 chr19 33406484 33406484 G T het . 8 +intronic CEP89 chr19 33406549 33406549 A G het . 3 +intronic CEP89 chr19 33414116 33414116 C A het . 3 +intronic CEP89 chr19 33417309 33417309 C G het . 6 +intronic CEP89 chr19 33417313 33417313 T C het . 6 +intronic CEP89 chr19 33417800 33417800 C A het . 20 +intronic CEP89 chr19 33428423 33428423 G T het . 17 +intronic CEP89 chr19 33430583 33430584 AA - het . 10 +intronic CEP89 chr19 33430816 33430816 T G het . 22 +intronic CEP89 chr19 33443824 33443824 A G het . 2 +intronic CEP89 chr19 33444287 33444287 C G het . 2 +intronic CEP89 chr19 33444313 33444313 A C het . 4 +intronic CEP89 chr19 33444318 33444318 T C het . 4 +intronic CEP89 chr19 33444331 33444331 A T het . 4 +intronic CEP89 chr19 33444347 33444348 TA - het . 4 +intronic CEP89 chr19 33444453 33444453 T G het . 2 +intronic CEP89 chr19 33444456 33444456 A G het . 2 +intronic CEP89 chr19 33444479 33444479 C T het . 5 +intronic CEP89 chr19 33444511 33444511 T C het . 7 +intronic CEP89 chr19 33446754 33446754 A G het . 2 +exonic FAAP24 chr19 33467357 33467357 G A het . 12 +exonic FAAP24 chr19 33467576 33467576 G A het . 8 +UTR3 RHPN2(NM_033103:c.*28T>C) chr19 33470874 33470874 A G het . 17 +intronic RHPN2 chr19 33471279 33471279 C T het . 11 +intronic RHPN2 chr19 33482543 33482543 - A het . 7 +intronic RHPN2 chr19 33485303 33485303 A - het . 2 +intronic RHPN2 chr19 33485304 33485304 A G het . 2 +exonic RHPN2 chr19 33487071 33487071 G C het . 14 +intronic RHPN2 chr19 33487182 33487182 A G het . 6 +intronic RHPN2 chr19 33490685 33490685 T C het . 10 +intronic RHPN2 chr19 33492779 33492779 A G het . 2 +intronic RHPN2 chr19 33493334 33493334 G A het . 19 +intronic RHPN2 chr19 33499157 33499157 T - het . 13 +intronic RHPN2 chr19 33502442 33502442 T C het . 3 +intronic RHPN2 chr19 33503634 33503634 A G het . 28 +intronic RHPN2 chr19 33503799 33503799 T A het . 10 +intronic RHPN2 chr19 33512633 33512633 A - het . 5 +intronic GPATCH1 chr19 33587380 33587380 G T het . 13 +exonic GPATCH1 chr19 33605312 33605312 T C het . 11 +exonic GPATCH1 chr19 33608733 33608733 C A het . 6 +intronic GPATCH1 chr19 33620993 33620993 - CC het . 15 +intronic WDR88 chr19 33635597 33635597 T C het . 2 +exonic WDR88 chr19 33635761 33635761 C T het . 21 +intronic WDR88 chr19 33635853 33635853 G A het . 11 +intronic WDR88 chr19 33635877 33635877 T C het . 10 +intronic WDR88 chr19 33635887 33635887 T G het . 8 +intronic WDR88 chr19 33635991 33635991 G A het . 3 +intronic WDR88 chr19 33636010 33636010 C T het . 1 +intronic WDR88 chr19 33642273 33642273 A C het . 3 +intergenic WDR88(dist=17292),LRP3(dist=1604) chr19 33683995 33683995 A G het . 6 +exonic LRP3 chr19 33698291 33698291 T C het . 11 +UTR3 LRP3(NM_002333:c.*1054A>G) chr19 33699535 33699535 A G het . 4 +UTR3 LRP3(NM_002333:c.*1183_*1184insA),SLC7A10(NM_019849:c.*132_*133insT) chr19 33699664 33699664 - A het . 16 +intronic SLC7A10 chr19 33700078 33700078 C T het . 4 +intronic SLC7A10 chr19 33700445 33700445 C T het . 2 +intronic SLC7A10 chr19 33701927 33701927 C A het . 15 +intronic SLC7A10 chr19 33702245 33702245 A G het . 9 +intronic SLC7A10 chr19 33703103 33703103 C T het . 8 +intronic SLC7A10 chr19 33703706 33703706 A G het . 7 +intergenic SLC7A10(dist=3440),CEBPA(dist=70644) chr19 33720196 33720196 T C het . 3 +intergenic SLC7A10(dist=16078),CEBPA(dist=58006) chr19 33732834 33732834 - C het . 2 +intergenic CEBPA-DT(dist=36322),CEBPG(dist=32290) chr19 33832285 33832285 C G het . 3 +intergenic CEBPA-DT(dist=55767),CEBPG(dist=12845) chr19 33851730 33851730 G A het . 20 +intergenic CEBPA-DT(dist=56359),CEBPG(dist=12253) chr19 33852322 33852322 T C het . 6 +intergenic CEBPA-DT(dist=60453),CEBPG(dist=8159) chr19 33856416 33856416 T C het . 2 +downstream PEPD(dist=342) chr19 33877513 33877513 T C het . 2 +downstream PEPD(dist=332) chr19 33877523 33877523 C G het . 1 +UTR3 PEPD(NM_001166057:c.*52T>C,NM_001166056:c.*52T>C,NM_000285:c.*52T>C) chr19 33878198 33878198 A G het . 6 +exonic PEPD chr19 33878837 33878837 G A het . 12 +intronic PEPD chr19 33882458 33882458 T C het . 7 +intronic PEPD chr19 33901550 33901550 C T het . 2 +intronic PEPD chr19 33924548 33924548 A G het . 3 +intergenic PEPD(dist=50241),CHST8(dist=49821) chr19 34063040 34063040 C A het . 2 +intergenic PEPD(dist=59246),CHST8(dist=40816) chr19 34072045 34072045 A G het . 2 +intergenic PEPD(dist=60682),CHST8(dist=39380) chr19 34073481 34073481 A G het . 2 +intergenic PEPD(dist=67253),CHST8(dist=32808) chr19 34080052 34080053 AC - het . 6 +intergenic PEPD(dist=67265),CHST8(dist=32797) chr19 34080064 34080064 A T het . 6 +intergenic PEPD(dist=67287),CHST8(dist=32772) chr19 34080086 34080089 TTTT - het . 3 +intergenic PEPD(dist=77251),CHST8(dist=22811) chr19 34090050 34090050 T C het . 2 +intergenic PEPD(dist=88175),CHST8(dist=11887) chr19 34100974 34100974 T C het . 2 +intergenic PEPD(dist=90371),CHST8(dist=9691) chr19 34103170 34103170 T C het . 3 +intergenic PEPD(dist=96455),CHST8(dist=3607) chr19 34109254 34109254 G T het . 10 +intergenic PEPD(dist=96796),CHST8(dist=3266) chr19 34109595 34109595 T - het . 16 +intronic CHST8 chr19 34139264 34139264 A G het . 2 +intronic CHST8 chr19 34139272 34139272 C G het . 1 +intronic CHST8 chr19 34251195 34251195 C - het . 2 +exonic CHST8 chr19 34262922 34262922 C T het . 14 +intronic KCTD15 chr19 34291283 34291283 C G het . 12 +UTR3 KCTD15(NM_024076:c.*1553_*1554insT,NM_001129994:c.*407_*408insT,NM_001129995:c.*407_*408insT) chr19 34304260 34304260 - T het . 7 +intergenic KCTD15(dist=15765),LSM14A(dist=340921) chr19 34322431 34322431 - A het . 3 +intergenic KCTD15(dist=32853),LSM14A(dist=323833) chr19 34339519 34339519 A - het . 2 +intergenic KCTD15(dist=37419),LSM14A(dist=319267) chr19 34344085 34344085 T G het . 2 +intergenic KCTD15(dist=37522),LSM14A(dist=319164) chr19 34344188 34344188 G A het . 2 +intergenic KCTD15(dist=39990),LSM14A(dist=316696) chr19 34346656 34346656 C T het . 2 +intergenic KCTD15(dist=58299),LSM14A(dist=298387) chr19 34364965 34364965 A T het . 2 +intergenic KCTD15(dist=116063),LSM14A(dist=240623) chr19 34422729 34422729 T C het . 3 +intergenic KCTD15(dist=117727),LSM14A(dist=238959) chr19 34424393 34424393 G T het . 2 +intergenic KCTD15(dist=277063),LSM14A(dist=79623) chr19 34583729 34583729 A G het . 33 +intergenic KCTD15(dist=303932),LSM14A(dist=52754) chr19 34610598 34610598 A G het . 2 +intergenic KCTD15(dist=311645),LSM14A(dist=45041) chr19 34618311 34618311 T G het . 4 +intergenic KCTD15(dist=337666),LSM14A(dist=19020) chr19 34644332 34644332 A G het . 2 +intergenic KCTD15(dist=349331),LSM14A(dist=7352) chr19 34655997 34656000 TTTG - het . 3 +intronic LSM14A chr19 34687746 34687746 C A het . 6 +intronic LSM14A chr19 34687809 34687809 T C het . 8 +intronic LSM14A chr19 34710532 34710532 A G het . 18 +intronic LSM14A chr19 34710817 34710817 A G het . 22 +intronic KIAA0355 chr19 34793646 34793646 T G het . 1 +intronic KIAA0355 chr19 34795479 34795479 C T het . 2 +intronic KIAA0355 chr19 34823956 34823956 T G het . 2 +exonic KIAA0355 chr19 34832967 34832967 C A het . 13 +exonic KIAA0355 chr19 34842488 34842488 T C het . 9 +intronic GPI chr19 34859457 34859457 G A het . 6 +intronic GPI chr19 34872356 34872356 T - het . 34 +intronic GPI chr19 34885006 34885006 A G het . 6 +intronic GPI chr19 34890322 34890322 G A het . 8 +intronic PDCD2L chr19 34904539 34904539 C G het . 13 +intronic PDCD2L chr19 34904953 34904953 C T het . 2 +intronic PDCD2L chr19 34911696 34911696 A - het . 2 +intronic PDCD2L chr19 34911710 34911710 A C het . 2 +intronic UBA2 chr19 34922865 34922865 - GTATAAA het . 6 +intronic UBA2 chr19 34934967 34934967 - TTTTTTG het . 4 +intronic UBA2 chr19 34942872 34942872 A T het . 12 +intronic UBA2 chr19 34943280 34943280 G T het . 3 +intronic UBA2 chr19 34951219 34951219 C T het . 3 +intronic UBA2 chr19 34951356 34951356 - T het . 6 +intronic UBA2 chr19 34954873 34954873 C G het . 13 +intronic UBA2 chr19 34959812 34959812 A G het . 2 +exonic UBA2 chr19 34959979 34959979 A G het . 6 +intergenic UBA2(dist=11048),WTIP(dist=1034) chr19 34971846 34971846 C T het . 5 +upstream WTIP(dist=882) chr19 34971998 34971998 G A het . 6 +upstream WTIP(dist=734) chr19 34972146 34972146 G C het . 4 +upstream WTIP(dist=341) chr19 34972539 34972539 C A het . 15 +intronic WTIP chr19 34977027 34977027 - CT het . 3 +intronic WTIP chr19 34978518 34978518 C T het . 2 +intronic WTIP chr19 34985466 34985466 C T het . 13 +intergenic WTIP(dist=32098),ZNF807(dist=8438) chr19 35024183 35024183 G C het . 3 +intergenic ZNF807(dist=13203),SCGB1B2P(dist=18144) chr19 35049494 35049494 A G het . 2 +ncRNA_intronic SCGB1B2P chr19 35127856 35127856 C A het . 2 +ncRNA_intronic SCGB1B2P chr19 35134800 35134800 A G het . 2 +ncRNA_intronic SCGB1B2P chr19 35134803 35134803 G T het . 2 +exonic ZNF302 chr19 35175208 35175208 A G het . 33 +exonic ZNF302 chr19 35175775 35175775 C T het . 9 +intergenic ZNF302(dist=37593),ZNF181(dist=10585) chr19 35214895 35214895 G - het . 3 +intergenic ZNF302(dist=37594),ZNF181(dist=10584) chr19 35214896 35214896 G A het . 3 +intronic ZNF181 chr19 35228084 35228084 A C het . 2 +intronic ZNF181 chr19 35231472 35231472 - A het . 7 +intronic ZNF599 chr19 35260281 35260281 G A het . 7 +intergenic ZNF599(dist=6228),LINC01801(dist=36696) chr19 35270362 35270362 G C het . 10 +intergenic ZNF599(dist=6409),LINC01801(dist=36515) chr19 35270543 35270543 G T het . 3 +intergenic ZNF599(dist=7929),LINC01801(dist=34995) chr19 35272063 35272063 A T het . 2 +intergenic ZNF599(dist=15038),LINC01801(dist=27886) chr19 35279172 35279172 T C het . 2 +ncRNA_intronic LINC00904 chr19 35388534 35388538 AAACA - het . 4 +UTR5 ZNF30(NM_194325:c.-11A>G,NM_001099438:c.-11A>G,NM_001099437:c.-11A>G) chr19 35420841 35420841 A G het . 25 +intronic ZNF30 chr19 35420966 35420966 A G het . 14 +exonic ZNF30 chr19 35422808 35422808 C T het . 10 +intronic ZNF30 chr19 35424504 35424504 C A het . 10 +intronic ZNF30 chr19 35429200 35429200 T C het . 1 +exonic ZNF30 chr19 35434238 35434238 A G het . 36 +exonic ZNF30 chr19 35434448 35434448 A G het . 13 +exonic ZNF30 chr19 35434512 35434512 T C het . 13 +exonic ZNF30 chr19 35435006 35435006 G A het . 19 +intergenic ZNF30(dist=8551),ZNF792(dist=2631) chr19 35444627 35444627 C A het . 3 +exonic ZNF792 chr19 35449409 35449409 G A het . 8 +exonic ZNF792 chr19 35449760 35449760 G C het . 12 +intronic ZNF792 chr19 35451330 35451330 A G het . 5 +intronic GRAMD1A chr19 35502353 35502354 CT - het . 13 +intronic HPN chr19 35541248 35541248 T G het . 2 +intronic HPN chr19 35541331 35541331 A - het . 11 +ncRNA_exonic HPN-AS1 chr19 35550206 35550206 C T het . 2 +ncRNA_intronic HPN-AS1 chr19 35551428 35551428 C A het . 6 +ncRNA_intronic HPN-AS1 chr19 35556123 35556123 G A het . 2 +ncRNA_intronic HPN-AS1 chr19 35556357 35556357 C T het . 4 +ncRNA_intronic HPN-AS1 chr19 35556640 35556640 T C het . 5 +ncRNA_intronic HPN-AS1 chr19 35556659 35556659 A G het . 3 +ncRNA_intronic HPN-AS1 chr19 35556716 35556716 T - het . 3 +ncRNA_intronic HPN-AS1 chr19 35556729 35556729 C T het . 3 +ncRNA_intronic HPN-AS1 chr19 35556744 35556744 T C het . 3 +ncRNA_intronic HPN-AS1 chr19 35557260 35557260 T G het . 8 +ncRNA_exonic HPN-AS1 chr19 35577870 35577870 G A het . 10 +ncRNA_intronic HPN-AS1 chr19 35586771 35586771 - AGAA het . 2 +ncRNA_exonic HPN-AS1 chr19 35590180 35590180 T A het . 11 +ncRNA_intronic HPN-AS1 chr19 35592914 35592914 A - het . 4 +ncRNA_intronic HPN-AS1 chr19 35592927 35592927 A C het . 4 +upstream HPN-AS1(dist=144) chr19 35597352 35597352 T C het . 9 +upstream HPN-AS1(dist=254) chr19 35597462 35597462 A G het . 19 +upstream HPN-AS1(dist=412) chr19 35597620 35597620 C T het . 34 +upstream HPN-AS1(dist=521) chr19 35597729 35597729 C T het . 18 +intergenic HPN-AS1(dist=2160),FXYD3(dist=7364) chr19 35599368 35599368 T C het . 3 +intergenic HPN-AS1(dist=6619),FXYD3(dist=2905) chr19 35603827 35603827 C A het . 2 +intronic FXYD3 chr19 35609973 35609975 GAC - het . 6 +intronic FXYD3 chr19 35609981 35609981 C T het . 6 +intronic FXYD3 chr19 35610245 35610245 A G het . 9 +exonic LGI4 chr19 35622695 35622695 A G het . 6 +intronic LGI4 chr19 35624548 35624548 G A het . 11 +intronic LGI4 chr19 35624890 35624890 C T het . 8 +intronic FXYD1 chr19 35633774 35633774 T G het . 3 +intronic FXYD7 chr19 35642297 35642297 T C het . 12 +intronic FXYD5 chr19 35649324 35649324 C G het . 11 +intronic FXYD5 chr19 35655151 35655151 T C het . 3 +intronic FXYD5 chr19 35660450 35660450 T C het . 13 +exonic FXYD5 chr19 35660508 35660508 G A het . 14 +UTR3 FXYD5(NM_014164:c.*28T>C,NM_001320913:c.*28T>C,NM_001320912:c.*83T>C,NM_144779:c.*28T>C,NM_001164605:c.*28T>C) chr19 35660546 35660546 T C het . 12 +intergenic FXYD5(dist=24668),FAM187B(dist=30248) chr19 35685456 35685456 C T het . 4 +intergenic FXYD5(dist=43449),FAM187B(dist=11467) chr19 35704237 35704237 A G het . 2 +UTR3 FAM187B(NM_152481:c.*6G>T) chr19 35715722 35715722 C A het . 2 +exonic FAM187B chr19 35719020 35719020 C T het . 12 +exonic FAM187B chr19 35719106 35719106 A G het . 14 +intergenic FAM187B(dist=16902),LSR(dist=3029) chr19 35736530 35736530 G A het . 2 +exonic LSR chr19 35741456 35741456 T C het . 10 +exonic LSR chr19 35757427 35757427 G A het . 3 +exonic LSR chr19 35758275 35758275 - GGA het . 18 +UTR3 LSR(NM_015925:c.*28delT,NM_001260490:c.*28delT,NM_001260489:c.*28delT,NM_205835:c.*28delT,NM_205834:c.*28delT) chr19 35758790 35758790 T - het . 26 +intronic USF2 chr19 35770056 35770056 G A het . 15 +UTR3 USF2(NM_003367:c.*15A>G,NM_001321150:c.*15A>G,NM_207291:c.*15A>G) chr19 35770174 35770174 A G het . 6 +intronic MAG chr19 35785021 35785021 G - het . 2 +exonic MAG chr19 35793589 35793589 C T het . 7 +intronic MAG chr19 35800720 35800720 G C het . 2 +downstream MAG(dist=746) chr19 35805455 35805455 - CT het . 2 +intronic CD22 chr19 35835940 35835940 C T het . 16 +exonic CD22 chr19 35836600 35836600 C A het . 10 +exonic FFAR1 chr19 35843086 35843086 G A het . 20 +intergenic FFAR1(dist=3887),FFAR3(dist=2108) chr19 35847254 35847254 G T het . 2 +intergenic FFAR1(dist=3892),FFAR3(dist=2103) chr19 35847259 35847259 T G het . 2 +exonic FFAR3 chr19 35849926 35849926 G A het . 33 +intergenic FFAR3(dist=3487),GPR42(dist=7121) chr19 35854876 35854876 C T het . 3 +intergenic GPR42(dist=11089),LINC01531(dist=22065) chr19 35874444 35874444 A G het . 13 +intergenic GPR42(dist=27510),LINC01531(dist=5644) chr19 35890865 35890865 G A het . 2 +intergenic LINC01531(dist=12379),FFAR2(dist=20496) chr19 35920121 35920121 C T het . 2 +exonic DMKN chr19 35991442 35991442 T G het . 13 +exonic DMKN chr19 36004106 36004106 A G het . 29 +intronic SBSN chr19 36015865 36015865 A C het . 9 +UTR3 TMEM147(NM_001242598:c.*41A>G,NM_001242597:c.*41A>G,NM_032635:c.*41A>G) chr19 36038390 36038390 A G het . 4 +intronic ATP4A chr19 36045772 36045772 A G het . 6 +intronic ATP4A chr19 36046566 36046566 G - het . 3 +exonic ATP4A chr19 36050969 36050969 A G het . 9 +intronic ATP4A chr19 36054279 36054279 A C het . 8 +intronic HAUS5 chr19 36104890 36104890 C T het . 7 +intronic HAUS5 chr19 36105908 36105908 G A het . 9 +intronic HAUS5 chr19 36105917 36105917 A G het . 11 +intronic HAUS5 chr19 36106337 36106337 C T het . 2 +intronic HAUS5 chr19 36113459 36113459 G A het . 7 +intronic HAUS5 chr19 36113658 36113658 A G het . 8 +exonic ETV2 chr19 36134208 36134208 G A het . 3 +intronic ETV2 chr19 36134665 36134665 C T het . 10 +intronic ETV2 chr19 36135279 36135279 - T het . 9 +downstream ETV2(dist=10) chr19 36135783 36135783 G A het . 16 +downstream ETV2(dist=20) chr19 36135793 36135793 A T het . 13 +intronic COX6B1 chr19 36142296 36142296 G A het . 19 +intronic COX6B1 chr19 36145410 36145411 AA - het . 8 +exonic UPK1A chr19 36157740 36157740 C T het . 12 +exonic UPK1A chr19 36159368 36159368 T G het . 14 +ncRNA_intronic UPK1A-AS1 chr19 36164108 36164108 G T het . 5 +intronic UPK1A chr19 36167074 36167081 TTTCTTTC - het . 3 +intronic UPK1A chr19 36167805 36167805 A - het . 3 +intronic UPK1A chr19 36168646 36168646 A G het . 10 +intronic UPK1A chr19 36168872 36168872 G A het . 4 +exonic UPK1A chr19 36168914 36168914 T C het . 4 +intergenic UPK1A(dist=5847),ZBTB32(dist=20155) chr19 36175234 36175234 A G het . 2 +intergenic UPK1A(dist=6939),ZBTB32(dist=19063) chr19 36176326 36176326 A G het . 2 +intergenic UPK1A(dist=7200),ZBTB32(dist=18802) chr19 36176587 36176587 T C het . 2 +exonic ZBTB32 chr19 36206050 36206050 A C het . 16 +exonic KMT2B chr19 36214849 36214849 C A het . 9 +intronic KMT2B chr19 36216043 36216043 A G het . 11 +intronic KMT2B chr19 36219209 36219209 A G het . 2 +intronic KMT2B chr19 36221051 36221051 G A het . 8 +exonic KMT2B chr19 36222857 36222857 C T het . 17 +intronic KMT2B chr19 36223111 36223111 C A het . 5 +exonic KMT2B chr19 36223747 36223747 A G het . 11 +exonic KMT2B chr19 36224705 36224705 A G het . 9 +exonic IGFLR1 chr19 36230677 36230677 A G het . 3 +exonic IGFLR1 chr19 36230767 36230767 A G het . 9 +UTR3 U2AF1L4(NM_144987:c.*29C>T,NM_001040425:c.*150C>T) chr19 36233470 36233470 G A het . 18 +intronic U2AF1L4 chr19 36234652 36234652 T C het . 13 +intronic U2AF1L4 chr19 36236000 36236000 C A het . 8 +intronic U2AF1L4 chr19 36236120 36236120 A G het . 16 +intronic PSENEN chr19 36237227 36237227 T A het . 19 +intronic PSENEN chr19 36237245 36237245 C G het . 22 +exonic LIN37 chr19 36243089 36243089 T C het . 21 +intronic LIN37 chr19 36243190 36243190 T C het . 12 +splicing LIN37(NM_019104:exon5:c.192-2G>A) chr19 36243813 36243813 G A het . 7 +upstream PROSER3(dist=69) chr19 36248975 36248975 T C het . 2 +intronic PROSER3 chr19 36250259 36250259 C T het . 9 +intronic PROSER3 chr19 36253317 36253317 C T het . 5 +exonic PROSER3 chr19 36258721 36258721 C T het . 5 +exonic PROSER3 chr19 36258842 36258842 G C het . 16 +splicing PROSER3(NM_001039887:exon9:c.1190+1G>-,NM_001039887:exon10:c.1191-1G>-) chr19 36258938 36258938 G - het . 6 +exonic ARHGAP33 chr19 36268771 36268771 C T het . 18 +intronic ARHGAP33 chr19 36268923 36268923 C T het . 3 +intronic ARHGAP33 chr19 36269915 36269915 T C het . 10 +intronic ARHGAP33 chr19 36270052 36270052 A G het . 2 +intronic ARHGAP33 chr19 36273230 36273230 C G het . 3 +intronic ARHGAP33 chr19 36276086 36276086 C T het . 4 +intronic ARHGAP33 chr19 36276403 36276403 T G het . 6 +exonic ARHGAP33 chr19 36277412 36277426 GTCCTCCTCCTCCGA - het . 17 +exonic PRODH2 chr19 36302921 36302921 T C het . 15 +exonic PRODH2 chr19 36303664 36303664 G T het . 3 +intronic NPHS1 chr19 36317556 36317556 C A het . 26 +intronic NPHS1 chr19 36321910 36321910 G A het . 30 +intronic NPHS1 chr19 36322152 36322152 C A het . 25 +exonic NPHS1 chr19 36322270 36322270 C T het . 21 +intronic NPHS1 chr19 36334594 36334594 G A het . 2 +exonic NPHS1 chr19 36342212 36342212 C T het . 22 +exonic KIRREL2 chr19 36355595 36355595 A G het . 12 +intronic KIRREL2 chr19 36356046 36356046 C T het . 2 +intergenic TYROBP(dist=13836),LRFN3(dist=14975) chr19 36413047 36413047 C T het . 2 +intergenic TYROBP(dist=22103),LRFN3(dist=6708) chr19 36421314 36421314 C A het . 2 +intergenic LOC105372383(dist=3193),SDHAF1(dist=27922) chr19 36458165 36458168 TTTC - het . 2 +intergenic LOC105372383(dist=17160),SDHAF1(dist=13954) chr19 36472132 36472136 TTCTT - het . 2 +intergenic LOC105372383(dist=26449),SDHAF1(dist=4669) chr19 36481421 36481421 C T het . 2 +exonic SDHAF1 chr19 36486445 36486445 G C het . 10 +intronic SYNE4 chr19 36496121 36496121 A G het . 8 +exonic SYNE4 chr19 36497358 36497358 C G het . 7 +exonic SYNE4 chr19 36499173 36499173 C T het . 4 +intronic SYNE4 chr19 36499412 36499412 C T het . 5 +intronic ALKBH6 chr19 36502441 36502441 G C het . 11 +intronic CLIP3,LOC101927572 chr19 36507246 36507247 TT - het . 6 +intronic CLIP3,LOC101927572 chr19 36508392 36508392 A G het . 14 +exonic CLIP3 chr19 36517055 36517055 C A het . 5 +intronic CLIP3,LOC101927572 chr19 36517655 36517655 C T het . 3 +exonic THAP8 chr19 36530332 36530332 G A het . 10 +exonic THAP8 chr19 36530343 36530343 C T het . 8 +intronic LOC101927572,THAP8 chr19 36536938 36536938 A G het . 4 +intronic WDR62 chr19 36556954 36556954 T G het . 10 +intronic WDR62 chr19 36558113 36558113 T C het . 9 +exonic WDR62 chr19 36558299 36558299 A G het . 37 +intronic WDR62 chr19 36558712 36558712 C T het . 8 +intronic WDR62 chr19 36558948 36558948 T A het . 27 +intronic WDR62 chr19 36562292 36562292 G A het . 4 +intronic WDR62 chr19 36572279 36572279 - TCATTTTC het . 15 +intronic WDR62 chr19 36572331 36572331 G A het . 31 +intronic WDR62 chr19 36572564 36572564 T C het . 15 +intronic WDR62 chr19 36580340 36580340 - T het . 5 +intronic WDR62 chr19 36581263 36581263 G C het . 4 +intronic WDR62 chr19 36581977 36581977 C T het . 7 +intronic WDR62 chr19 36581987 36581987 T C het . 8 +intronic WDR62 chr19 36582270 36582270 G A het . 20 +intronic WDR62 chr19 36585173 36585173 C T het . 4 +exonic WDR62 chr19 36590329 36590329 T C het . 30 +intronic WDR62 chr19 36592752 36592752 G T het . 9 +exonic WDR62 chr19 36594659 36594659 A T het . 3 +exonic WDR62 chr19 36594753 36594753 C A het . 12 +exonic WDR62 chr19 36595436 36595436 A C het . 5 +intronic OVOL3 chr19 36602729 36602729 G C het . 14 +exonic OVOL3 chr19 36603703 36603703 T A het . 9 +intronic POLR2I chr19 36605647 36605647 T C het . 9 +UTR5 POLR2I(NM_006233:c.-36G>A) chr19 36605794 36605794 C T het . 11 +intronic TBCB chr19 36614462 36614462 A C het . 2 +intergenic COX7A1(dist=9428),ZNF565(dist=19763) chr19 36653199 36653199 A G het . 2 +intergenic COX7A1(dist=15566),ZNF565(dist=13625) chr19 36659337 36659337 A G het . 1 +downstream ZNF565(dist=579) chr19 36672383 36672383 G A het . 2 +exonic ZNF565 chr19 36674305 36674305 A G het . 21 +intronic ZNF565 chr19 36681413 36681413 A G het . 2 +intronic ZNF565 chr19 36683810 36683810 A C het . 2 +intronic ZNF565 chr19 36684666 36684666 T G het . 2 +intronic ZNF565 chr19 36685310 36685310 C T het . 2 +intronic ZNF565 chr19 36685316 36685316 T C het . 2 +intronic ZNF565 chr19 36685690 36685690 T C het . 2 +intronic ZNF565 chr19 36692123 36692123 A G het . 2 +ncRNA_intronic LINC00665 chr19 36808113 36808113 A G het . 2 +UTR3 ZFP14(NM_001297619:c.*2909T>C,NM_020917:c.*2909T>C) chr19 36828217 36828217 A G het . 2 +intronic ZFP14 chr19 36836188 36836188 C G het . 2 +intronic ZFP14 chr19 36838524 36838524 - AAAG het . 2 +intronic ZFP14 chr19 36840068 36840068 G A het . 3 +intronic ZFP14 chr19 36840116 36840117 AG - het . 1 +intronic ZFP14 chr19 36843126 36843126 C A het . 2 +intronic ZFP14 chr19 36858944 36858944 A G het . 4 +intronic ZFP14 chr19 36860222 36860222 G A het . 2 +intronic ZFP82 chr19 36877794 36877794 G A het . 2 +intronic ZFP82 chr19 36885067 36885067 A T het . 19 +intronic ZFP82 chr19 36887198 36887198 C T het . 2 +intronic ZFP82 chr19 36904064 36904064 A C het . 3 +intronic ZFP82 chr19 36904778 36904778 C T het . 4 +ncRNA_exonic LOC644189 chr19 36912860 36912860 G A het . 17 +ncRNA_exonic LOC644189 chr19 36912925 36912925 A T het . 9 +intergenic LOC644189(dist=12149),ZNF566(dist=10073) chr19 36925948 36925948 - AAG het . 2 +intergenic LOC644189(dist=20439),ZNF566(dist=1783) chr19 36934238 36934238 C G het . 2 +exonic ZNF566 chr19 36940760 36940760 G T het . 37 +intronic ZNF566 chr19 36940965 36940965 A G het . 10 +intronic ZNF566 chr19 36967352 36967352 - TTTC het . 5 +intergenic LOC728752(dist=6396),ZNF260(dist=13251) chr19 36988338 36988338 T C het . 4 +exonic ZNF260 chr19 37004938 37004938 T C het . 10 +exonic ZNF260 chr19 37005136 37005136 C A het . 26 +intergenic ZNF260(dist=7195),ZNF529(dist=8074) chr19 37026443 37026443 T C het . 2 +intergenic ZNF260(dist=14260),ZNF529(dist=1009) chr19 37033508 37033508 C G het . 2 +exonic ZNF529 chr19 37039069 37039069 A C het . 23 +exonic ZNF529 chr19 37039199 37039199 C A het . 10 +exonic ZNF529 chr19 37039207 37039207 C A het . 11 +ncRNA_exonic ZNF529-AS1 chr19 37064240 37064240 A G het . 4 +ncRNA_exonic ZNF529-AS1 chr19 37064267 37064267 C T het . 9 +ncRNA_intronic ZNF529-AS1 chr19 37065914 37065914 G A het . 13 +ncRNA_exonic ZNF529-AS1 chr19 37068081 37068081 G C het . 8 +intronic ZNF382 chr19 37097654 37097654 A C het . 2 +exonic ZNF382 chr19 37117302 37117302 A G het . 14 +UTR3 ZNF461(NM_001322826:c.*970_*969delTT,NM_001322825:c.*970_*969delTT,NM_001322823:c.*970_*969delTT,NM_001322821:c.*970_*969delTT,NM_001297623:c.*970_*969delTT,NM_001322827:c.*970_*969delTT,NM_001322828:c.*970_*969delTT,NM_153257:c.*970_*969delTT) chr19 37128585 37128586 AA - het . 8 +intronic ZNF461 chr19 37147330 37147330 T G het . 21 +intronic ZNF461 chr19 37152434 37152435 TA - het . 1 +intronic ZNF461 chr19 37155496 37155496 A - het . 10 +intergenic ZNF461(dist=9137),LINC01534(dist=9449) chr19 37166892 37166892 A T het . 6 +intronic ZNF567 chr19 37203013 37203013 A C het . 6 +exonic ZNF567 chr19 37210805 37210805 C T het . 18 +UTR3 ZNF850(NM_001193552:c.*588G>A,NM_001267779:c.*588G>A) chr19 37238081 37238081 C T het . 5 +exonic ZNF850 chr19 37239278 37239278 C A het . 29 +exonic ZNF850 chr19 37241141 37241141 A G het . 28 +exonic ZNF850 chr19 37241487 37241487 C A het . 20 +downstream LOC728485(dist=758) chr19 37268738 37268738 T C het . 2 +exonic ZNF790 chr19 37310344 37310344 T C het . 15 +intronic ZNF345 chr19 37347156 37347156 T C het . 2 +intronic ZNF345 chr19 37365716 37365716 T C het . 2 +intronic ZNF829 chr19 37397301 37397301 C T het . 3 +intronic ZNF829 chr19 37399412 37399412 C T het . 5 +intronic ZNF568 chr19 37416022 37416022 C A het . 6 +intronic ZNF568 chr19 37419836 37419836 G T het . 2 +intronic ZNF568 chr19 37421116 37421116 T - het . 2 +exonic ZNF568 chr19 37441111 37441111 C T het . 16 +exonic ZNF568 chr19 37441462 37441462 T C het . 28 +intronic ZNF568 chr19 37447503 37447503 C - het . 4 +intronic ZNF568 chr19 37465175 37465175 C T het . 3 +intronic ZNF568 chr19 37465414 37465414 A G het . 13 +intronic ZNF568 chr19 37470033 37470033 G C het . 3 +intronic ZNF568 chr19 37472224 37472224 T C het . 2 +intronic ZNF568 chr19 37476027 37476027 G T het . 2 +intronic ZNF568 chr19 37482068 37482068 T G het . 12 +exonic ZNF568 chr19 37482151 37482151 A G het . 18 +intronic ZNF568 chr19 37482765 37482765 T C het . 8 +intronic ZNF568 chr19 37482772 37482772 G A het . 7 +intronic ZNF568 chr19 37482817 37482817 G A het . 6 +exonic ZNF568 chr19 37487632 37487632 G A het . 21 +exonic ZNF568 chr19 37487866 37487866 A T het . 8 +exonic ZNF568 chr19 37487873 37487873 C A het . 7 +exonic ZNF568 chr19 37488055 37488055 T G het . 14 +exonic ZNF568 chr19 37488197 37488197 G A het . 12 +exonic ZNF568 chr19 37488299 37488299 A G het . 14 +exonic ZNF568 chr19 37488499 37488499 T C het . 10 +intergenic ZNF568(dist=3916),ZNF420(dist=76374) chr19 37492750 37492750 C T het . 2 +intergenic ZNF568(dist=40520),ZNF420(dist=39770) chr19 37529354 37529354 C T het . 2 +intronic ZNF420 chr19 37576550 37576550 G A het . 2 +intronic ZNF420 chr19 37581795 37581795 C T het . 19 +intronic ZNF420 chr19 37581822 37581822 A - het . 15 +intronic ZNF420 chr19 37603776 37603776 G T het . 2 +intronic ZNF585A chr19 37652083 37652083 A - het . 2 +UTR3 ZNF585B(NM_152279:c.*1870C>G) chr19 37674259 37674259 G C het . 2 +intronic ZNF585B chr19 37681098 37681098 G A het . 4 +intronic ZNF585B chr19 37682425 37682425 A C het . 2 +intronic ZNF585B chr19 37689998 37689998 C T het . 7 +intronic ZNF585B chr19 37690333 37690333 G - het . 8 +intronic ZNF585B chr19 37690420 37690420 C T het . 8 +intronic ZNF383 chr19 37721404 37721404 - A het . 21 +UTR5 HKR1(NM_001329776:c.-12552A>T,NM_001329779:c.-13119A>T,NM_001329777:c.-12552A>T,NM_001329778:c.-12552A>T,NM_001329773:c.-12552A>T,NM_181786:c.-9954A>T,NM_001329769:c.-494A>T,NM_001329764:c.-494A>T,NM_001329762:c.-494A>T,NM_001353803:c.-494A>T,NM_001329768:c.-494A>T,NM_001329772:c.-12552A>T,NM_001329761:c.-494A>T,NM_001353804:c.-494A>T) chr19 37825633 37825633 A T het . 8 +intronic HKR1 chr19 37832990 37832990 A G het . 2 +intronic HKR1 chr19 37838911 37838911 T C het . 3 +exonic HKR1 chr19 37854580 37854580 C T het . 7 +intronic ZNF527 chr19 37864925 37864925 - C het . 6 +exonic ZNF527 chr19 37879589 37879589 A G het . 23 +intergenic ZNF527(dist=1537),ZNF569(dist=16541) chr19 37885503 37885503 T C het . 2 +intergenic ZNF527(dist=3144),ZNF569(dist=14934) chr19 37887110 37887110 G C het . 2 +intergenic ZNF527(dist=6188),ZNF569(dist=11890) chr19 37890154 37890154 C T het . 2 +intronic ZNF569 chr19 37909470 37909470 C T het . 2 +intronic ZNF569 chr19 37918609 37918609 C T het . 16 +intronic ZNF569 chr19 37945601 37945601 C T het . 5 +intronic ZNF569 chr19 37950253 37950253 C T het . 2 +upstream ZNF569,ZNF570(dist=199) chr19 37958475 37958475 G C het . 2 +intronic ZNF570 chr19 37958973 37958973 - T het . 3 +intronic ZNF570 chr19 37966923 37966923 C T het . 3 +intronic ZNF570 chr19 37967214 37967214 C T het . 8 +exonic ZNF570 chr19 37975713 37975713 C A het . 17 +downstream ZNF570(dist=174) chr19 37979728 37979728 A G het . 3 +intronic ZNF793 chr19 38003372 38003372 A G het . 2 +intronic ZNF793 chr19 38024367 38024367 T C het . 7 +intronic ZNF793 chr19 38027715 38027715 - T het . 6 +UTR3 ZNF793(NM_001013659:c.*4470C>T) chr19 38033251 38033251 C T het . 17 +upstream ZNF571-AS1(dist=176) chr19 38039675 38039675 C G het . 2 +ncRNA_intronic ZNF571-AS1 chr19 38040076 38040076 C T het . 4 +ncRNA_intronic ZNF571-AS1 chr19 38046946 38046946 C A het . 20 +ncRNA_intronic ZNF571-AS1 chr19 38046967 38046967 G A het . 15 +ncRNA_intronic ZNF571-AS1 chr19 38047075 38047075 A G het . 7 +exonic ZNF571 chr19 38055612 38055612 A T het . 13 +exonic ZNF571 chr19 38056574 38056574 T A het . 9 +ncRNA_exonic ZNF571-AS1 chr19 38077661 38077661 G A het . 6 +intronic ZNF540 chr19 38091685 38091685 A C het . 4 +exonic ZNF540 chr19 38091932 38091932 A T het . 23 +intronic ZFP30 chr19 38138887 38138887 T C het . 9 +intronic ZFP30 chr19 38139986 38139986 A T het . 2 +UTR5 ZNF781(NM_152605:c.-21T>A) chr19 38161070 38161070 A T het . 8 +intergenic ZNF781(dist=1046),ZNF607(dist=3002) chr19 38184262 38184262 C T het . 24 +exonic ZNF607 chr19 38189440 38189440 T C het . 18 +exonic ZNF607 chr19 38189616 38189616 T C het . 16 +intronic ZNF607 chr19 38190846 38190846 T - het . 5 +intronic ZNF607 chr19 38193859 38193859 - T het . 2 +exonic ZNF607 chr19 38202515 38202516 GA AC het . 24 +exonic ZNF607 chr19 38202516 38202516 A C het . 24 +exonic ZNF573 chr19 38229824 38229824 T C het . 24 +intergenic ZNF573(dist=6881),LOC644554(dist=30940) chr19 38277111 38277111 - TT het . 3 +intergenic ZNF573(dist=12497),LOC644554(dist=25324) chr19 38282727 38282727 T C het . 15 +intergenic ZNF573(dist=12896),LOC644554(dist=24925) chr19 38283126 38283126 T C het . 14 +intergenic ZNF573(dist=21632),LOC644554(dist=16189) chr19 38291862 38291862 G A het . 6 +intergenic ZNF573(dist=21664),LOC644554(dist=16157) chr19 38291894 38291894 G T het . 4 +intergenic ZNF573(dist=23733),LOC644554(dist=14088) chr19 38293963 38293963 C A het . 9 +ncRNA_intronic LOC644554 chr19 38310660 38310660 G T het . 2 +ncRNA_exonic LOC100631378 chr19 38314767 38314767 A G het . 15 +ncRNA_intronic LOC100631378 chr19 38335813 38335813 C T het . 2 +intergenic LOC100631378(dist=5622),WDR87(dist=24005) chr19 38351458 38351458 G A het . 2 +intergenic LOC100631378(dist=12984),WDR87(dist=16643) chr19 38358820 38358820 C A het . 2 +intergenic LOC100631378(dist=19227),WDR87(dist=10400) chr19 38365063 38365063 A G het . 2 +intergenic LOC100631378(dist=25207),WDR87(dist=4420) chr19 38371043 38371043 T A het . 2 +exonic WDR87 chr19 38376485 38376485 T A het . 10 +exonic WDR87 chr19 38377409 38377409 A T het . 11 +exonic WDR87 chr19 38377564 38377564 T C het . 24 +exonic WDR87 chr19 38377773 38377773 G A het . 20 +exonic WDR87 chr19 38378107 38378107 G A het . 36 +exonic WDR87 chr19 38378539 38378539 G C het . 43 +exonic WDR87 chr19 38379429 38379429 C A het . 34 +exonic WDR87 chr19 38379446 38379446 C T het . 30 +exonic WDR87 chr19 38379657 38379657 C A het . 26 +exonic WDR87 chr19 38382328 38382328 C T het . 33 +exonic WDR87 chr19 38384421 38384421 C G het . 13 +intronic SIPA1L3 chr19 38453353 38453353 G A het . 2 +intronic SIPA1L3 chr19 38526625 38526625 T C het . 2 +intronic SIPA1L3 chr19 38527121 38527121 A G het . 2 +intronic SIPA1L3 chr19 38530381 38530381 C - het . 2 +exonic SIPA1L3 chr19 38652993 38652993 C T het . 19 +intronic SIPA1L3 chr19 38653097 38653097 A C het . 4 +UTR3 SIPA1L3(NM_015073:c.*62C>A) chr19 38696942 38696942 C A het . 3 +intronic DPF1 chr19 38702777 38702777 C T het . 15 +exonic CATSPERG chr19 38828099 38828099 C T het . 24 +intronic CATSPERG chr19 38848155 38848155 - A het . 3 +exonic CATSPERG chr19 38861333 38861333 G A het . 26 +exonic GGN chr19 38875072 38875072 G A het . 5 +intronic GGN chr19 38877997 38877997 G T het . 2 +exonic RASGRP4 chr19 38903399 38903399 G A het . 11 +intronic RASGRP4 chr19 38912597 38912597 G A het . 14 +exonic RASGRP4 chr19 38912764 38912764 A G het . 6 +intronic RYR1 chr19 38924814 38924814 T C het . 1 +intronic RYR1 chr19 38930298 38930298 C T het . 2 +exonic RYR1 chr19 38935280 38935280 A G het . 21 +intronic RYR1 chr19 38935350 38935350 - C het . 10 +intronic RYR1 chr19 38935366 38935366 C T het . 9 +intronic RYR1 chr19 38937090 38937090 A C het . 22 +exonic RYR1 chr19 38939408 38939408 T C het . 11 +intronic RYR1 chr19 38939505 38939505 T C het . 11 +intronic RYR1 chr19 38943728 38943728 G A het . 3 +intronic RYR1 chr19 38945851 38945851 T C het . 15 +exonic RYR1 chr19 38946182 38946182 G A het . 26 +intronic RYR1 chr19 38946215 38946215 G C het . 27 +intronic RYR1 chr19 38948356 38948356 T C het . 16 +intronic RYR1 chr19 38948420 38948420 C G het . 5 +intronic RYR1 chr19 38949729 38949729 T G het . 19 +exonic RYR1 chr19 38949904 38949904 C T het . 18 +intronic RYR1 chr19 38953996 38953996 A G het . 8 +intronic RYR1 chr19 38954532 38954532 T G het . 6 +intronic RYR1 chr19 38954537 38954537 T G het . 5 +intronic RYR1 chr19 38955583 38955583 G A het . 2 +intronic RYR1 chr19 38955598 38955598 T G het . 1 +intronic RYR1 chr19 38955600 38955600 A G het . 1 +exonic RYR1 chr19 38956803 38956803 G A het . 22 +exonic RYR1 chr19 38959680 38959680 C T het . 30 +intronic RYR1 chr19 38965952 38965952 T C het . 23 +intronic RYR1 chr19 38976177 38976177 T G het . 7 +exonic RYR1 chr19 38976655 38976655 C T het . 24 +intronic RYR1 chr19 38979741 38979741 G A het . 12 +intronic RYR1 chr19 38980118 38980118 C G het . 19 +exonic RYR1 chr19 38981284 38981284 A G het . 29 +intronic RYR1 chr19 38982946 38982946 A T het . 2 +exonic RYR1 chr19 38983180 38983180 G T het . 33 +intronic RYR1 chr19 38990527 38990527 A C het . 14 +intronic RYR1 chr19 38990535 38990535 A C het . 16 +exonic RYR1 chr19 38991516 38991516 G A het . 34 +exonic RYR1 chr19 38991543 38991543 G A het . 25 +intronic RYR1 chr19 38993372 38993372 A G het . 5 +exonic RYR1 chr19 38993547 38993547 C T het . 29 +intronic RYR1 chr19 38993638 38993638 A G het . 30 +intronic RYR1 chr19 38994748 38994750 CCT - het . 4 +exonic RYR1 chr19 38994910 38994910 G A het . 15 +intronic RYR1 chr19 38995152 38995152 G A het . 3 +intronic RYR1 chr19 38995356 38995358 CCT - het . 12 +exonic RYR1 chr19 38995438 38995438 T C het . 22 +exonic RYR1 chr19 38995510 38995510 T C het . 33 +exonic RYR1 chr19 38995975 38995975 G A het . 20 +intronic RYR1 chr19 38996066 38996066 A G het . 11 +exonic RYR1 chr19 38996990 38996990 T C het . 25 +intronic RYR1 chr19 38997076 38997076 C T het . 28 +intronic RYR1 chr19 38997214 38997214 T G het . 32 +intronic RYR1 chr19 38997323 38997323 T C het . 17 +intronic RYR1 chr19 38997364 38997364 - TCA het . 8 +intronic RYR1 chr19 38997459 38997459 G C het . 16 +intronic RYR1 chr19 38997609 38997609 T A het . 18 +intronic RYR1 chr19 38997635 38997635 A C het . 17 +intronic RYR1 chr19 38997679 38997679 G T het . 9 +intronic RYR1 chr19 38998497 38998497 - C het . 18 +intronic RYR1 chr19 39000540 39000540 C T het . 2 +intronic RYR1 chr19 39000562 39000562 T C het . 1 +intronic RYR1 chr19 39002614 39002614 T G het . 7 +exonic RYR1 chr19 39002725 39002725 A G het . 17 +exonic RYR1 chr19 39010053 39010053 C T het . 15 +intronic RYR1 chr19 39015454 39015454 T C het . 3 +intronic RYR1 chr19 39018277 39018277 C T het . 20 +intronic RYR1 chr19 39019153 39019153 A G het . 22 +intronic RYR1 chr19 39019752 39019752 C T het . 11 +intronic MAP4K1 chr19 39101669 39101669 A G het . 12 +intronic MAP4K1 chr19 39101870 39101870 T C het . 15 +intronic MAP4K1 chr19 39106798 39106798 G - het . 7 +intronic EIF3K chr19 39109975 39109975 C T het . 11 +intronic EIF3K chr19 39122923 39122923 T C het . 5 +intronic ACTN4 chr19 39179934 39179934 A G het . 2 +intronic ACTN4 chr19 39191383 39191383 G C het . 16 +intronic ACTN4 chr19 39195558 39195558 C T het . 30 +intronic ACTN4 chr19 39200843 39200843 C T het . 13 +intronic ACTN4 chr19 39204965 39204965 A C het . 2 +intronic ACTN4 chr19 39207499 39207500 AA - het . 2 +intronic ACTN4 chr19 39208795 39208795 C T het . 8 +intronic ACTN4 chr19 39214411 39214411 C T het . 19 +exonic ACTN4 chr19 39215172 39215172 T C het . 43 +intronic ACTN4 chr19 39218694 39218694 A G het . 21 +intronic ACTN4 chr19 39219560 39219560 G T het . 8 +exonic ACTN4 chr19 39219780 39219780 T C het . 18 +exonic CAPN12 chr19 39224413 39224413 A G het . 11 +intronic CAPN12 chr19 39224902 39224902 G A het . 2 +intronic CAPN12 chr19 39224934 39224934 C T het . 2 +intronic CAPN12 chr19 39228868 39228868 - CA het . 7 +exonic CAPN12 chr19 39230748 39230748 C G het . 8 +intronic CAPN12 chr19 39232748 39232748 G A het . 4 +exonic CAPN12 chr19 39233146 39233146 A G het . 15 +intergenic LGALS7B(dist=8417),LGALS4(dist=1500) chr19 39290811 39290811 T C het . 2 +intronic LGALS4 chr19 39295810 39295811 AA - het . 2 +intronic LGALS4 chr19 39297007 39297007 - A het . 5 +intronic LGALS4 chr19 39299680 39299680 C G het . 2 +intronic ECH1 chr19 39306425 39306425 A C het . 5 +intronic ECH1 chr19 39306803 39306803 G C het . 3 +intronic ECH1 chr19 39307893 39307893 G C het . 2 +exonic ECH1 chr19 39308190 39308190 C T het . 6 +intronic ECH1 chr19 39321899 39321899 G A het . 6 +intergenic ECH1(dist=1318),HNRNPL(dist=3213) chr19 39323815 39323815 A - het . 2 +intronic HNRNPL chr19 39329517 39329517 C T het . 11 +intronic HNRNPL chr19 39331296 39331296 C A het . 3 +intronic HNRNPL chr19 39334811 39334811 T A het . 7 +exonic RINL chr19 39360720 39360720 G A het . 5 +intronic RINL chr19 39361658 39361658 G C het . 2 +exonic RINL chr19 39364584 39364584 C T het . 18 +intronic RINL chr19 39365866 39365866 T C het . 1 +intronic RINL chr19 39366434 39366434 C T het . 4 +exonic RINL chr19 39367111 39367111 T C het . 4 +intronic SIRT2 chr19 39370358 39370358 T G het . 13 +intronic SIRT2 chr19 39380030 39380031 CA TG het . 5 +intronic SIRT2 chr19 39385532 39385532 T C het . 15 +intronic CCER2 chr19 39402315 39402315 T G het . 8 +intergenic MRPS12(dist=1386),FBXO17(dist=6996) chr19 39425045 39425045 T C het . 2 +intronic FBXO17 chr19 39443577 39443577 A T het . 5 +intronic FBXO17 chr19 39455279 39455279 C T het . 2 +intergenic FBXO17(dist=37172),FBXO27(dist=11038) chr19 39503625 39503625 G A het . 9 +intergenic FBXO17(dist=37210),FBXO27(dist=11000) chr19 39503663 39503663 T G het . 4 +intergenic FBXO17(dist=38921),FBXO27(dist=9289) chr19 39505374 39505374 A C het . 8 +intergenic FBXO17(dist=39061),FBXO27(dist=9149) chr19 39505514 39505514 C T het . 2 +intergenic FBXO17(dist=46243),FBXO27(dist=1967) chr19 39512696 39512696 C T het . 3 +intronic FBXO27 chr19 39517176 39517176 G A het . 2 +intergenic FBXO27(dist=10233),ACP7(dist=41476) chr19 39533469 39533469 G A het . 3 +intergenic FBXO27(dist=35310),ACP7(dist=16399) chr19 39558546 39558546 - C het . 2 +exonic ACP7 chr19 39589189 39589189 C T het . 6 +intronic ACP7 chr19 39590853 39590853 - C het . 3 +exonic ACP7 chr19 39590955 39590955 G A het . 12 +intronic ACP7 chr19 39591748 39591748 G A het . 10 +intronic ACP7 chr19 39595246 39595246 G A het . 2 +intronic PAK4 chr19 39665934 39665934 C T het . 6 +exonic PAK4 chr19 39669105 39669105 G T het . 11 +intergenic PAK4(dist=4691),NCCRP1(dist=12867) chr19 39674737 39674737 C T het . 2 +intergenic PAK4(dist=15589),NCCRP1(dist=1969) chr19 39685635 39685635 C T het . 2 +upstream NCCRP1(dist=12) chr19 39687592 39687592 T C het . 10 +intronic NCCRP1 chr19 39688815 39688815 C T het . 16 +intronic NCCRP1 chr19 39688901 39688901 G T het . 14 +intronic NCCRP1 chr19 39689943 39689943 G A het . 4 +intronic NCCRP1 chr19 39691136 39691136 C A het . 8 +intronic NCCRP1 chr19 39691216 39691216 A T het . 3 +intronic NCCRP1 chr19 39691239 39691239 A G het . 2 +intergenic SYCN(dist=5399),IFNL3(dist=33941) chr19 39700305 39700305 T G het . 2 +intergenic SYCN(dist=8912),IFNL3(dist=30428) chr19 39703818 39703818 T C het . 4 +intergenic IFNL4(dist=6199),IFNL2(dist=13462) chr19 39745695 39745695 - C het . 3 +exonic IFNL2 chr19 39760191 39760191 A G het . 4 +intergenic IFNL2(dist=21955),IFNL1(dist=4278) chr19 39782687 39782687 T - het . 2 +intronic PAF1 chr19 39881015 39881015 - AGA het . 7 +intronic MED29 chr19 39883716 39883721 CTTTTC - het . 3 +intronic PLEKHG2 chr19 39905903 39905903 A G het . 9 +intronic PLEKHG2 chr19 39906985 39906985 T C het . 5 +exonic PLEKHG2 chr19 39913558 39913558 A G het . 11 +exonic PLEKHG2 chr19 39914644 39914644 G A het . 17 +exonic PLEKHG2 chr19 39914748 39914748 G A het . 5 +exonic PLEKHG2 chr19 39915637 39915637 G A het . 6 +intronic RPS16 chr19 39924129 39924129 T C het . 4 +exonic RPS16 chr19 39926509 39926509 A C het . 11 +exonic RPS16 chr19 39926521 39926521 G A het . 9 +UTR5 RPS16(NM_001321111:c.-66G>A,NM_001020:c.-66G>A) chr19 39926601 39926601 C T het . 4 +intergenic RPS16(dist=5363),SUPT5H(dist=4163) chr19 39932023 39932023 T C het . 12 +intergenic RPS16(dist=5406),SUPT5H(dist=4120) chr19 39932066 39932066 T C het . 6 +UTR5 SUPT5H(NM_001111020:c.-29G>A,NM_001130825:c.-29G>A,NM_003169:c.-29G>A) chr19 39936502 39936502 G A het . 20 +intronic SUPT5H chr19 39936693 39936693 C T het . 11 +exonic SUPT5H chr19 39944082 39944082 C T het . 14 +intronic SUPT5H chr19 39946156 39946156 T C het . 2 +intronic SUPT5H chr19 39946165 39946165 C G het . 2 +intronic SUPT5H chr19 39948456 39948456 A C het . 13 +intronic SUPT5H chr19 39949764 39949764 C T het . 8 +intronic SUPT5H chr19 39953176 39953176 G T het . 2 +exonic SUPT5H chr19 39955533 39955533 G A het . 19 +intronic SUPT5H chr19 39955791 39955791 T C het . 3 +intronic SUPT5H chr19 39957030 39957030 C T het . 4 +intronic SUPT5H chr19 39957233 39957234 GG - het . 11 +intronic SUPT5H chr19 39957472 39957472 C T het . 6 +exonic SUPT5H chr19 39961117 39961117 C T het . 4 +intronic SUPT5H chr19 39963415 39963415 C T het . 8 +intronic SUPT5H chr19 39963621 39963621 C A het . 3 +intronic SUPT5H chr19 39963828 39963828 T A het . 10 +intergenic SUPT5H(dist=1068),TIMM50(dist=2676) chr19 39968376 39968376 G A het . 2 +exonic TIMM50 chr19 39971432 39971432 G C het . 22 +intronic TIMM50 chr19 39971622 39971622 C G het . 2 +intronic TIMM50 chr19 39976464 39976464 C G het . 13 +intronic TIMM50 chr19 39976684 39976684 T C het . 2 +intronic TIMM50 chr19 39976734 39976734 G A het . 7 +intronic TIMM50 chr19 39976969 39976969 T C het . 14 +exonic DLL3 chr19 39994711 39994711 T C het . 9 +intergenic DLL3(dist=1517),SELENOV(dist=5115) chr19 40000638 40000638 A C het . 2 +exonic SELENOV chr19 40005876 40005876 A C het . 3 +exonic EID2B chr19 40023308 40023308 A G het . 6 +intergenic EID2B(dist=1690),EID2(dist=4250) chr19 40025197 40025197 T C het . 8 +intergenic EID2B(dist=2097),EID2(dist=3843) chr19 40025604 40025604 T C het . 20 +exonic EID2 chr19 40030654 40030654 G C het . 10 +exonic EID2 chr19 40030704 40030704 C T het . 9 +intergenic EID2(dist=22119),LGALS13(dist=40212) chr19 40052957 40052957 A T het . 2 +intergenic EID2(dist=32239),LGALS13(dist=30092) chr19 40063077 40063077 C T het . 2 +upstream LGALS13(dist=58) chr19 40093111 40093111 C A het . 24 +intronic LGALS13 chr19 40094528 40094528 A G het . 3 +intronic LGALS13 chr19 40096089 40096089 T C het . 17 +intronic LGALS13 chr19 40096127 40096127 C T het . 8 +intronic LGALS16 chr19 40146758 40146758 T - het . 7 +exonic LGALS16 chr19 40149297 40149297 T A het . 11 +intergenic LGALS17A(dist=11955),LGALS14(dist=5978) chr19 40188968 40188968 C A het . 2 +exonic LGALS14 chr19 40197924 40197924 T C het . 34 +exonic LGALS14 chr19 40199914 40199914 C G het . 23 +intronic CLC chr19 40224869 40224869 T A het . 2 +intronic CLC chr19 40224887 40224887 T C het . 4 +intronic CLC chr19 40224901 40224901 G A het . 6 +exonic CLC chr19 40224986 40224986 A G het . 24 +intronic CLC chr19 40225168 40225168 T A het . 7 +exonic CLC chr19 40225646 40225646 G A het . 15 +intergenic CLC(dist=37040),LEUTX(dist=1525) chr19 40265709 40265709 C T het . 1 +intergenic LEUTX(dist=5349),DYRK1B(dist=33863) chr19 40282124 40282124 A - het . 2 +intergenic LEUTX(dist=15196),DYRK1B(dist=24015) chr19 40291971 40291972 TT CC het . 1 +intronic DYRK1B chr19 40318086 40318087 AG GA het . 6 +intronic DYRK1B chr19 40319227 40319227 C T het . 5 +upstream;downstream DYRK1B(dist=143);FBL(dist=77) chr19 40325016 40325016 T C het . 3 +intronic FBL chr19 40336849 40336849 C G het . 4 +upstream FBL(dist=26) chr19 40337080 40337080 C T het . 4 +intergenic FBL(dist=3633),FCGBP(dist=13276) chr19 40340687 40340687 T C het . 2 +intergenic FBL(dist=9406),FCGBP(dist=7503) chr19 40346460 40346460 G A het . 2 +intergenic FBL(dist=11396),FCGBP(dist=5513) chr19 40348450 40348450 T C het . 2 +intergenic FBL(dist=11398),FCGBP(dist=5511) chr19 40348452 40348452 A G het . 2 +intergenic FBL(dist=13254),FCGBP(dist=3655) chr19 40350308 40350308 T C het . 3 +intergenic FBL(dist=13930),FCGBP(dist=2974) chr19 40350984 40350989 TTTTTT - het . 3 +UTR3 FCGBP(NM_003890:c.*60A>G) chr19 40354067 40354067 T C het . 10 +intronic FCGBP chr19 40361112 40361112 G T het . 4 +exonic FCGBP chr19 40363020 40363020 G A het . 8 +exonic FCGBP chr19 40363926 40363926 C G het . 12 +exonic FCGBP chr19 40366362 40366362 G C het . 18 +intronic FCGBP chr19 40366603 40366603 - GC het . 6 +exonic FCGBP chr19 40368391 40368391 G A het . 13 +exonic FCGBP chr19 40368395 40368395 C T het . 11 +exonic FCGBP chr19 40368498 40368499 AA CC het . 19 +exonic FCGBP chr19 40368520 40368520 G C het . 13 +intronic FCGBP chr19 40369431 40369431 T C het . 2 +intronic FCGBP chr19 40369435 40369435 T C het . 2 +intronic FCGBP chr19 40408857 40408857 T C het . 7 +intronic FCGBP chr19 40430270 40430270 C G het . 2 +intergenic ZNF546(dist=2608),ZNF780B(dist=4611) chr19 40529556 40529556 C T het . 5 +intergenic ZNF780B(dist=8314),ZNF780A(dist=4629) chr19 40570429 40570430 TT - het . 20 +intergenic ZNF780A(dist=99275),MAP3K10(dist=1531) chr19 40696120 40696120 T G het . 3 +intergenic ZNF780A(dist=99285),MAP3K10(dist=1521) chr19 40696130 40696130 T - het . 3 +intronic MAP3K10 chr19 40702436 40702436 A T het . 3 +exonic MAP3K10 chr19 40719076 40719076 T C het . 5 +intronic MAP3K10 chr19 40719410 40719410 C T het . 11 +exonic MAP3K10 chr19 40720079 40720079 C T het . 3 +intronic TTC9B chr19 40723844 40723844 C T het . 3 +intergenic TTC9B(dist=2121),CNTD2(dist=1688) chr19 40726427 40726427 A G het . 2 +UTR3 AKT2(NM_001626:c.*266T>C,NM_001330511:c.*266T>C,NM_001243028:c.*266T>C,NM_001243027:c.*266T>C) chr19 40739513 40739513 A G het . 13 +UTR3 AKT2(NM_001626:c.*58C>A,NM_001330511:c.*58C>A,NM_001243028:c.*58C>A,NM_001243027:c.*58C>A) chr19 40739721 40739721 G T het . 6 +intronic AKT2 chr19 40742320 40742320 T C het . 23 +intronic AKT2 chr19 40744019 40744019 G C het . 11 +intronic AKT2 chr19 40759366 40759366 - AGAC het . 3 +intronic AKT2 chr19 40761212 40761212 G A het . 12 +intronic AKT2 chr19 40764215 40764215 C T het . 3 +intronic AKT2 chr19 40770982 40770982 T C het . 8 +intronic AKT2 chr19 40788442 40788442 T G het . 8 +intronic C19orf47 chr19 40853376 40853376 T C het . 3 +UTR5 C19orf47(NM_001256440:c.-11G>A),PLD3(NM_012268:c.-17959C>T,NM_001031696:c.-17959C>T) chr19 40854432 40854432 C T het . 6 +intronic PLD3 chr19 40872659 40872659 A C het . 15 +exonic HIPK4 chr19 40886993 40886993 C T het . 8 +exonic HIPK4 chr19 40895628 40895628 C A het . 27 +exonic PRX chr19 40900865 40900865 C T het . 3 +exonic PRX chr19 40901011 40901011 G C het . 21 +exonic PRX chr19 40901334 40901334 A C het . 23 +exonic PRX chr19 40901496 40901496 T C het . 53 +exonic PRX chr19 40901604 40901604 A G het . 37 +exonic PRX chr19 40901614 40901614 A G het . 35 +intronic PRX chr19 40912712 40912712 A G het . 2 +intergenic PRX(dist=4826),SERTAD1(dist=4312) chr19 40924097 40924097 - TTTTC het . 2 +intronic BLVRB chr19 40958648 40958648 T C het . 2 +exonic SPTBN4 chr19 40978640 40978640 G A het . 14 +intronic SPTBN4 chr19 41006751 41006751 - A het . 2 +intronic SPTBN4 chr19 41007798 41007799 TC - het . 9 +exonic SPTBN4 chr19 41008049 41008049 A G het . 8 +exonic SPTBN4 chr19 41012190 41012190 C T het . 12 +intronic SPTBN4 chr19 41030420 41030420 A - het . 6 +intronic SPTBN4 chr19 41034912 41034912 G A het . 4 +exonic SPTBN4 chr19 41038574 41038574 G A het . 8 +intronic SPTBN4 chr19 41040334 41040334 G A het . 3 +intronic SPTBN4 chr19 41078220 41078220 G C het . 7 +exonic LTBP4 chr19 41111069 41111069 G A het . 9 +exonic LTBP4 chr19 41111393 41111393 C A het . 11 +exonic LTBP4 chr19 41123093 41123093 - G het . 14 +intergenic LTBP4(dist=11851),NUMBL(dist=24236) chr19 41147576 41147576 G T het . 2 +intergenic LTBP4(dist=24067),NUMBL(dist=12020) chr19 41159792 41159792 T C het . 1 +intergenic LTBP4(dist=30950),NUMBL(dist=5137) chr19 41166675 41166675 C T het . 2 +intergenic LTBP4(dist=31229),NUMBL(dist=4858) chr19 41166954 41166954 C T het . 2 +exonic NUMBL chr19 41173880 41173880 C T het . 30 +exonic NUMBL chr19 41173893 41173898 TGCTGT - het . 35 +intronic NUMBL chr19 41185262 41185262 A G het . 2 +intronic COQ8B chr19 41208429 41208429 A G het . 7 +exonic COQ8B chr19 41211056 41211056 T C het . 16 +intronic COQ8B chr19 41216172 41216172 T C het . 4 +intronic ITPKC chr19 41235393 41235393 A G het . 4 +intronic C19orf54 chr19 41251180 41251180 T G het . 6 +exonic C19orf54 chr19 41255500 41255500 C G het . 14 +UTR5 SNRPA(NM_004596:c.-138G>C) chr19 41257176 41257176 G C het . 5 +ncRNA_intronic MIA-RAB4B chr19 41283365 41283365 C G het . 10 +ncRNA_intronic MIA-RAB4B,RAB4B-EGLN2 chr19 41299864 41299864 A C het . 2 +ncRNA_intronic RAB4B-EGLN2 chr19 41313202 41313202 C A het . 11 +ncRNA_exonic CYP2T1P chr19 41316355 41316355 T C het . 8 +intergenic CYP2T1P(dist=27669),CYP2A6(dist=4769) chr19 41344674 41344674 C T het . 2 +exonic CYP2A6 chr19 41350664 41350664 A T het . 12 +intronic CYP2A6 chr19 41351400 41351400 G A het . 3 +intronic CYP2A6 chr19 41354712 41354712 A G het . 6 +exonic CYP2A6 chr19 41356246 41356246 C T het . 11 +exonic CYP2A6 chr19 41356281 41356281 T C het . 18 +exonic CYP2A7 chr19 41383153 41383153 A G het . 20 +intronic CYP2A7 chr19 41383344 41383344 T C het . 2 +exonic CYP2A7 chr19 41383799 41383799 G A het . 8 +exonic CYP2A7 chr19 41386136 41386136 A C het . 8 +exonic CYP2A7 chr19 41386420 41386420 A C het . 13 +intergenic CYP2A7(dist=6373),CYP2G1P(dist=1701) chr19 41395030 41395030 A G het . 2 +intergenic CYP2A7(dist=6379),CYP2G1P(dist=1695) chr19 41395036 41395036 G A het . 3 +upstream CYP2G1P(dist=880) chr19 41395851 41395851 A C het . 2 +ncRNA_intronic CYP2G1P chr19 41403982 41403982 - T het . 4 +ncRNA_exonic CYP2G1P chr19 41405962 41405962 T G het . 14 +intergenic CYP2G1P(dist=10419),CYP2B7P(dist=13338) chr19 41416832 41416832 T - het . 10 +ncRNA_intronic CYP2B7P chr19 41447928 41447928 G A het . 10 +ncRNA_intronic CYP2B7P chr19 41450609 41450609 T C het . 12 +intergenic CYP2B7P(dist=25408),CYP2B6(dist=15231) chr19 41481973 41481973 A C het . 2 +intergenic CYP2B7P(dist=27692),CYP2B6(dist=12947) chr19 41484257 41484257 C G het . 2 +intronic CYP2B6 chr19 41506953 41506953 C A het . 2 +intronic CYP2B6 chr19 41510127 41510127 A T het . 12 +intronic CYP2B6 chr19 41512792 41512792 C T het . 14 +intronic CYP2B6 chr19 41515483 41515483 G A het . 2 +intronic CYP2B6 chr19 41518007 41518007 G C het . 5 +intergenic CYP2B6(dist=7186),CYP2A13(dist=62869) chr19 41531487 41531487 A G het . 18 +intergenic CYP2B6(dist=7296),CYP2A13(dist=62759) chr19 41531597 41531597 C G het . 31 +intergenic CYP2B6(dist=7524),CYP2A13(dist=62531) chr19 41531825 41531825 A G het . 7 +intergenic CYP2B6(dist=7704),CYP2A13(dist=62351) chr19 41532005 41532005 G A het . 29 +intergenic CYP2B6(dist=7832),CYP2A13(dist=62223) chr19 41532133 41532133 A G het . 7 +intergenic CYP2B6(dist=27650),CYP2A13(dist=42405) chr19 41551951 41551951 - T het . 3 +intronic CYP2A13 chr19 41596133 41596133 A G het . 2 +exonic CYP2A13 chr19 41600311 41600311 A C het . 14 +intronic CYP2A13 chr19 41600800 41600800 C T het . 4 +intronic CYP2A13 chr19 41600808 41600808 C T het . 4 +intronic CYP2A13 chr19 41601649 41601649 T C het . 12 +intergenic CYP2A13(dist=1041),CYP2F1(dist=17196) chr19 41603141 41603141 G C het . 2 +intronic CYP2F1 chr19 41622267 41622267 G A het . 7 +intronic CYP2F1 chr19 41626439 41626439 T - het . 12 +intronic CYP2F1 chr19 41633459 41633459 A T het . 3 +downstream CYP2F1(dist=731) chr19 41635019 41635022 TTTC - het . 2 +downstream CYP2F1(dist=755) chr19 41635043 41635043 T A het . 2 +intergenic CYP2F1(dist=8163),CYP2S1(dist=56661) chr19 41642451 41642451 G C het . 14 +intergenic CYP2F1(dist=32249),CYP2S1(dist=32575) chr19 41666537 41666537 - G het . 1 +intergenic CYP2F1(dist=37932),CYP2S1(dist=26892) chr19 41672220 41672220 - GTTT het . 3 +intergenic CYP2F1(dist=41617),CYP2S1(dist=23207) chr19 41675905 41675905 T C het . 8 +exonic CYP2S1 chr19 41700493 41700493 G C het . 3 +intronic CYP2S1 chr19 41703660 41703660 T C het . 12 +intronic CYP2S1 chr19 41704832 41704832 A G het . 2 +intronic CYP2S1 chr19 41707094 41707094 A G het . 10 +UTR3 CYP2S1(NM_030622:c.*31A>G) chr19 41712424 41712424 A G het . 12 +intronic AXL chr19 41737003 41737003 T G het . 5 +intronic AXL chr19 41737010 41737010 T G het . 4 +exonic AXL chr19 41743861 41743861 A G het . 4 +intronic AXL chr19 41759474 41759474 C T het . 10 +intronic AXL chr19 41759632 41759634 CCC - het . 2 +intronic AXL chr19 41759637 41759637 C T het . 2 +exonic HNRNPUL1 chr19 41811730 41811730 T C het . 3 +intronic TGFB1 chr19 41838206 41838206 G A het . 11 +intronic TGFB1 chr19 41854534 41854534 T A het . 6 +exonic TGFB1 chr19 41858921 41858921 G A het . 10 +intronic B9D2 chr19 41863777 41863777 A C het . 7 +exonic B9D2 chr19 41869392 41869392 T C het . 25 +intronic B9D2 chr19 41869468 41869468 G C het . 15 +intronic B9D2 chr19 41869487 41869487 - A het . 5 +exonic TMEM91 chr19 41889748 41889748 T C het . 6 +exonic EXOSC5 chr19 41903220 41903220 G A het . 22 +upstream BCKDHA,EXOSC5(dist=23) chr19 41903671 41903671 A G het . 15 +upstream BCKDHA,EXOSC5(dist=19) chr19 41903675 41903675 A G het . 16 +intronic BCKDHA chr19 41919944 41919944 A C het . 19 +intronic BCKDHA chr19 41924611 41924611 T - het . 9 +exonic BCKDHA chr19 41928652 41928652 C T het . 13 +intronic BCKDHA chr19 41928701 41928701 C T het . 12 +intronic BCKDHA chr19 41928724 41928724 G A het . 9 +intronic BCKDHA chr19 41928765 41928765 C T het . 5 +exonic BCKDHA chr19 41930396 41930396 A G het . 16 +exonic B3GNT8 chr19 41932084 41932084 G T het . 13 +exonic B3GNT8 chr19 41932120 41932120 C T het . 10 +exonic B3GNT8 chr19 41932275 41932275 T C het . 16 +exonic B3GNT8 chr19 41932612 41932612 C T het . 16 +downstream DMAC2(dist=128) chr19 41937095 41937095 G A het . 34 +exonic DMAC2 chr19 41939297 41939297 C G het . 12 +exonic DMAC2 chr19 41944237 41944237 T C het . 27 +UTR5 DMAC2(NM_001167871:c.-33A>T,NM_018035:c.-33A>T,NM_001167869:c.-33A>T,NM_001320838:c.-33A>T,NM_001167870:c.-33A>T,NM_001320844:c.-33A>T) chr19 41945837 41945837 T A het . 10 +upstream DMAC2(dist=5) chr19 41945848 41945848 G T het . 9 +upstream DMAC2(dist=61) chr19 41945904 41945904 G C het . 9 +upstream DMAC2(dist=252) chr19 41946095 41946095 C G het . 5 +ncRNA_intronic PCAT19 chr19 41963613 41963613 C T het . 2 +ncRNA_intronic PCAT19 chr19 41964977 41964977 G A het . 3 +intergenic PCAT19(dist=20941),LINC01480(dist=14360) chr19 42027500 42027500 A G het . 13 +intergenic PCAT19(dist=20955),LINC01480(dist=14346) chr19 42027514 42027514 T A het . 16 +intergenic LINC01480(dist=4214),CEACAM21(dist=8406) chr19 42047480 42047480 C T het . 2 +intergenic CEACAM4(dist=19930),CEACAM7(dist=23863) chr19 42153372 42153372 G C het . 7 +intergenic CEACAM4(dist=20015),CEACAM7(dist=23778) chr19 42153457 42153457 C A het . 6 +intergenic CEACAM7(dist=8095),CEACAM5(dist=12203) chr19 42200301 42200301 C T het . 2 +exonic CEACAM5 chr19 42213681 42213681 G A het . 12 +exonic CEACAM5 chr19 42221607 42221607 A G het . 3 +intronic CEACAM5 chr19 42226441 42226441 T C het . 2 +exonic CEACAM5 chr19 42231159 42231159 G A het . 18 +intergenic CEACAM5(dist=4837),CEACAM6(dist=20250) chr19 42239178 42239178 G A het . 2 +exonic CEACAM6 chr19 42260569 42260569 G A het . 6 +intronic CEACAM3 chr19 42311060 42311060 - AAG het . 6 +intronic CEACAM3 chr19 42313921 42313921 G T het . 7 +UTR3 CEACAM3(NM_001815:c.*6G>T,NM_001277163:c.*21G>T) chr19 42315281 42315281 G T het . 27 +UTR3 CEACAM3(NM_001815:c.*25G>T,NM_001277163:c.*40G>T) chr19 42315300 42315300 G T het . 22 +intergenic CEACAM3(dist=2060),LYPD4(dist=23497) chr19 42317651 42317651 A C het . 4 +intergenic CEACAM3(dist=9008),LYPD4(dist=16549) chr19 42324599 42324599 C T het . 2 +intergenic CEACAM3(dist=18678),LYPD4(dist=6879) chr19 42334269 42334269 C T het . 8 +intronic LYPD4 chr19 42342923 42342923 T A het . 7 +intronic LYPD4 chr19 42343155 42343155 G T het . 7 +exonic DMRTC2 chr19 42354629 42354629 T C het . 11 +intronic RPS19 chr19 42364994 42364994 - C het . 15 +intronic RPS19 chr19 42365004 42365004 G C het . 14 +intronic RPS19 chr19 42368016 42368016 G A het . 1 +intronic RPS19 chr19 42373298 42373298 G A het . 7 +intronic RPS19 chr19 42373679 42373679 C T het . 6 +intronic RPS19 chr19 42373893 42373893 C T het . 10 +intronic RPS19 chr19 42374836 42374836 T G het . 5 +intronic RPS19 chr19 42375244 42375244 C T het . 3 +intergenic RPS19(dist=2979),CD79A(dist=2727) chr19 42378463 42378463 T C het . 2 +downstream CD79A(dist=238) chr19 42385677 42385677 G - het . 4 +exonic ARHGEF1 chr19 42407007 42407007 C A het . 12 +intronic LOC390937 chr19 42429833 42429833 G A het . 2 +exonic RABAC1 chr19 42463021 42463021 T C het . 15 +UTR5 RABAC1(NM_006423:c.-3G>A) chr19 42463447 42463447 C T het . 19 +UTR3 ATP1A3(NM_001256214:c.*39C>G,NM_152296:c.*39C>G,NM_001256213:c.*39C>G) chr19 42471050 42471050 G C het . 14 +intronic ATP1A3 chr19 42474200 42474200 A T het . 4 +intronic ATP1A3 chr19 42480000 42480000 C T het . 6 +exonic ATP1A3 chr19 42489516 42489516 A C het . 31 +exonic GSK3A chr19 42736267 42736267 A G het . 6 +intronic ERF chr19 42758239 42758239 A G het . 2 +intronic CIC chr19 42793590 42793590 G A het . 14 +exonic CIC chr19 42794447 42794447 A C het . 13 +exonic CIC chr19 42794452 42794452 A C het . 13 +exonic CIC chr19 42794458 42794458 A C het . 12 +exonic CIC chr19 42799049 42799049 C T het . 17 +intronic MEGF8 chr19 42843119 42843119 - A het . 2 +intronic MEGF8 chr19 42864911 42864911 C T het . 6 +ncRNA_intronic LIPE-AS1 chr19 42946867 42946867 - C het . 6 +ncRNA_intronic LIPE-AS1 chr19 42947113 42947113 C T het . 5 +ncRNA_intronic LIPE-AS1 chr19 42973679 42973679 T A het . 2 +exonic CEACAM1 chr19 43013363 43013363 A G het . 8 +ncRNA_intronic LIPE-AS1 chr19 43013394 43013394 A G het . 11 +ncRNA_intronic LIPE-AS1 chr19 43021011 43021011 G C het . 19 +ncRNA_intronic LIPE-AS1 chr19 43032561 43032561 G A het . 6 +exonic CEACAM8 chr19 43087484 43087484 A C het . 15 +ncRNA_intronic LIPE-AS1 chr19 43130680 43130680 G A het . 6 +ncRNA_intronic LIPE-AS1 chr19 43146197 43146197 T C het . 2 +intergenic LIPE-AS1(dist=12695),PSG3(dist=56592) chr19 43169202 43169202 T G het . 4 +exonic PSG3 chr19 43233304 43233304 C A het . 7 +UTR3 PSG8(NM_001130168:c.*73C>A,NM_001130167:c.*73C>A) chr19 43257439 43257439 G T het . 12 +intronic PSG8 chr19 43258342 43258342 T A het . 10 +exonic PSG8 chr19 43259184 43259184 T G het . 9 +exonic PSG8 chr19 43268069 43268069 A G het . 8 +exonic PSG8 chr19 43268141 43268141 G - het . 21 +exonic PSG8 chr19 43268216 43268216 T G het . 8 +exonic PSG8 chr19 43269705 43269705 G A het . 1 +intergenic PSG8(dist=13124),PSG8-AS1(dist=43060) chr19 43282955 43282955 G A het . 9 +intronic PSG6 chr19 43407878 43407878 A - het . 5 +exonic PSG7 chr19 43439793 43439793 G A het . 10 +intergenic PSG7(dist=42539),PSG11(dist=27940) chr19 43483869 43483869 T C het . 2 +downstream PSG11(dist=642) chr19 43511167 43511167 T C het . 2 +intronic PSG11 chr19 43514519 43514519 T C het . 4 +intronic PSG11 chr19 43514552 43514552 G C het . 4 +intronic PSG11 chr19 43515902 43515902 G T het . 7 +intronic PSG11 chr19 43515908 43515908 T A het . 7 +exonic PSG11 chr19 43519362 43519362 C T het . 21 +exonic PSG11 chr19 43519442 43519442 T C het . 19 +intronic PSG11 chr19 43520204 43520204 G C het . 2 +exonic PSG11 chr19 43529026 43529027 CA TG het . 12 +intronic PSG11 chr19 43530324 43530324 A T het . 2 +intronic PSG11 chr19 43530379 43530379 A G het . 3 +intronic PSG11 chr19 43530390 43530390 C T het . 3 +upstream PSG11(dist=10) chr19 43530641 43530641 T - het . 2 +intronic PSG2 chr19 43576547 43576547 C T het . 12 +intergenic PSG2(dist=53809),PSG5(dist=31193) chr19 43640702 43640702 T A het . 3 +intronic PSG5 chr19 43675958 43675958 A G het . 4 +exonic PSG5 chr19 43680051 43680051 C T het . 3 +exonic PSG5 chr19 43680269 43680269 G C het . 4 +intronic PSG5 chr19 43686664 43686664 G T het . 2 +intronic PSG5 chr19 43690405 43690405 T C het . 4 +downstream PSG4(dist=832) chr19 43696022 43696022 T A het . 5 +UTR3 PSG4(NM_001316339:c.*207C>G,NM_001276495:c.*207C>G,NM_213633:c.*207C>G,NM_002780:c.*207C>G) chr19 43697317 43697317 G C het . 6 +intronic PSG4 chr19 43698364 43698364 T G het . 2 +intronic PSG4 chr19 43698432 43698432 C T het . 22 +intronic PSG4 chr19 43698759 43698759 G A het . 7 +exonic PSG4 chr19 43699417 43699417 A G het . 10 +exonic PSG4 chr19 43702342 43702342 C T het . 20 +exonic PSG4 chr19 43708245 43708245 G C het . 27 +intronic PSG4 chr19 43708926 43708926 G T het . 4 +intronic PSG4 chr19 43708968 43708968 T C het . 16 +intronic PSG4 chr19 43708979 43708979 C - het . 16 +intronic PSG4 chr19 43709072 43709072 G A het . 2 +intronic PSG4 chr19 43709527 43709527 G A het . 5 +ncRNA_exonic LOC284344 chr19 43716423 43716423 T G het . 7 +ncRNA_intronic LOC284344 chr19 43717164 43717164 G C het . 3 +ncRNA_intronic LOC284344 chr19 43717359 43717359 T C het . 4 +ncRNA_intronic LOC284344 chr19 43717371 43717371 A C het . 3 +ncRNA_intronic LOC284344 chr19 43719940 43719940 C T het . 2 +ncRNA_intronic LOC284344 chr19 43720178 43720178 G A het . 1 +ncRNA_intronic LOC284344 chr19 43722188 43722188 A - het . 2 +intronic PSG9 chr19 43759085 43759085 A - het . 7 +intronic PSG9 chr19 43770566 43770566 A G het . 10 +intronic PSG9 chr19 43773208 43773208 G A het . 3 +downstream CD177(dist=742) chr19 43868066 43868066 C T het . 2 +intronic TEX101 chr19 43908629 43908629 A C het . 4 +intronic TEX101 chr19 43920443 43920443 C G het . 8 +intergenic TEX101(dist=34567),LYPD3(dist=7612) chr19 43957334 43957334 A C het . 2 +intronic LYPD3 chr19 43967147 43967147 C T het . 3 +UTR5 LYPD3(NM_014400:c.-34T>C) chr19 43969757 43969757 A G het . 2 +exonic PHLDB3 chr19 43979589 43979589 G T het . 14 +intronic PHLDB3 chr19 43995957 43995957 T C het . 2 +intronic PHLDB3 chr19 43999634 43999634 A C het . 12 +intronic PHLDB3 chr19 44001891 44001891 T C het . 6 +intronic PHLDB3 chr19 44005877 44005880 CAAA - het . 14 +intronic ETHE1 chr19 44012880 44012880 A G het . 11 +intronic ETHE1 chr19 44021649 44021649 G A het . 2 +exonic ETHE1 chr19 44031324 44031324 C T het . 5 +exonic XRCC1 chr19 44047826 44047826 T A het . 5 +intronic XRCC1 chr19 44050195 44050195 C T het . 8 +exonic XRCC1 chr19 44055726 44055726 T C het . 2 +intronic XRCC1 chr19 44056052 44056052 A G het . 2 +exonic XRCC1 chr19 44057227 44057227 T C het . 11 +exonic SRRM5 chr19 44116956 44116956 A G het . 14 +exonic SRRM5 chr19 44118191 44118191 G A het . 28 +intronic CADM4 chr19 44128437 44128437 A G het . 4 +exonic PLAUR chr19 44153100 44153100 A G het . 4 +intronic PLAUR chr19 44169465 44169465 C T het . 6 +intronic PLAUR chr19 44169897 44169897 G C het . 3 +intronic PLAUR chr19 44171349 44171349 C T het . 2 +intergenic PLAUR(dist=6097),IRGC(dist=39619) chr19 44180595 44180595 G A het . 2 +intergenic PLAUR(dist=8056),IRGC(dist=37660) chr19 44182554 44182554 T A het . 2 +intergenic PLAUR(dist=9340),IRGC(dist=36376) chr19 44183838 44183838 A G het . 2 +intergenic PLAUR(dist=36354),IRGC(dist=9362) chr19 44210852 44210852 G A het . 3 +intergenic PLAUR(dist=37159),IRGC(dist=8557) chr19 44211657 44211657 C G het . 2 +upstream IRGC(dist=464) chr19 44219750 44219750 A G het . 2 +exonic IRGC chr19 44223125 44223125 C T het . 6 +exonic IRGC chr19 44223145 44223145 C T het . 9 +exonic IRGC chr19 44223412 44223412 C T het . 5 +UTR3 IRGC(NM_019612:c.*59T>A) chr19 44224161 44224161 T A het . 2 +intronic SMG9 chr19 44239927 44239927 T C het . 2 +intronic SMG9 chr19 44241666 44241666 C A het . 5 +intronic SMG9 chr19 44244423 44244423 A G het . 5 +intronic SMG9 chr19 44248860 44248860 C A het . 3 +intronic SMG9 chr19 44248878 44248878 A G het . 4 +intronic SMG9 chr19 44257584 44257584 G A het . 2 +intronic KCNN4 chr19 44280837 44280837 G A het . 10 +intronic KCNN4 chr19 44280870 44280870 T - het . 5 +exonic LYPD5 chr19 44302624 44302624 T C het . 7 +exonic LYPD5 chr19 44303066 44303066 C G het . 15 +intronic LYPD5 chr19 44305869 44305869 T C het . 3 +exonic LYPD5 chr19 44306482 44306482 C T het . 21 +intronic LYPD5 chr19 44310813 44310817 AACAA - het . 3 +intronic ZNF283 chr19 44344122 44344122 T A het . 2 +intronic ZNF283 chr19 44350962 44350962 A G het . 13 +intronic ZNF283 chr19 44351030 44351030 T - het . 9 +intronic ZNF283 chr19 44351045 44351045 C A het . 11 +exonic ZNF283 chr19 44351107 44351107 G A het . 15 +exonic ZNF283 chr19 44351167 44351172 GGAGAT - het . 19 +exonic ZNF283 chr19 44351694 44351694 C T het . 28 +exonic ZNF283 chr19 44351836 44351836 G A het . 31 +exonic ZNF283 chr19 44352322 44352322 T G het . 25 +exonic ZNF283 chr19 44352327 44352327 A C het . 25 +exonic ZNF283 chr19 44352639 44352639 G A het . 26 +exonic ZNF283 chr19 44352665 44352666 TG CA het . 27 +exonic ZNF283 chr19 44352688 44352688 G A het . 25 +downstream ZNF283(dist=333) chr19 44353383 44353383 T C het . 2 +intergenic ZNF283(dist=14793),ZNF404(dist=8672) chr19 44367843 44367843 G A het . 2 +intergenic ZNF283(dist=21666),ZNF404(dist=1799) chr19 44374716 44374716 A T het . 2 +exonic ZNF404 chr19 44377357 44377357 C T het . 28 +exonic ZNF404 chr19 44377614 44377614 G A het . 23 +exonic ZNF404 chr19 44377669 44377669 G A het . 16 +intergenic ZNF404(dist=3679),LOC100505715(dist=7989) chr19 44387967 44387967 A T het . 10 +intergenic LOC100505715(dist=3129),ZNF45(dist=7692) chr19 44409084 44409084 A G het . 3 +exonic ZNF45 chr19 44418077 44418077 C T het . 10 +exonic ZNF45 chr19 44418343 44418343 C T het . 20 +exonic ZNF45 chr19 44418544 44418544 A G het . 11 +exonic ZNF45 chr19 44418680 44418680 G C het . 13 +exonic ZNF45 chr19 44418693 44418693 T C het . 13 +exonic ZNF45 chr19 44418824 44418824 C T het . 18 +exonic ZNF45 chr19 44419030 44419030 A G het . 23 +intronic ZNF45 chr19 44421007 44421007 G A het . 3 +intronic ZNF45 chr19 44421647 44421648 TT - het . 3 +intronic ZNF45 chr19 44422982 44422982 G A het . 10 +intronic ZNF45 chr19 44423195 44423195 G A het . 3 +intronic ZNF45 chr19 44426265 44426265 A G het . 20 +intronic ZNF45 chr19 44426467 44426467 - G het . 16 +intergenic ZNF45(dist=3886),ZNF221(dist=12078) chr19 44443297 44443297 G C het . 2 +intergenic ZNF45(dist=5474),ZNF221(dist=10490) chr19 44444885 44444885 G C het . 2 +intronic ZNF221 chr19 44466754 44466754 G C het . 12 +intronic ZNF221 chr19 44469577 44469577 T G het . 3 +intronic ZNF221 chr19 44469625 44469625 C G het . 2 +intronic ZNF221 chr19 44469657 44469657 A C het . 1 +exonic ZNF221 chr19 44470147 44470147 G A het . 19 +exonic ZNF221 chr19 44470189 44470189 T A het . 28 +exonic ZNF221 chr19 44470420 44470420 T C het . 26 +exonic ZNF221 chr19 44470548 44470548 A G het . 15 +exonic ZNF221 chr19 44470663 44470663 G C het . 29 +exonic ZNF221 chr19 44471209 44471209 T A het . 36 +exonic ZNF221 chr19 44471323 44471323 G A het . 14 +intergenic ZNF221(dist=4584),ZNF155(dist=11986) chr19 44476336 44476336 G A het . 2 +intergenic ZNF221(dist=6024),ZNF155(dist=10546) chr19 44477776 44477776 C T het . 2 +exonic ZNF155 chr19 44500478 44500478 A T het . 12 +exonic ZNF155 chr19 44500761 44500761 G A het . 18 +exonic ZNF155 chr19 44501116 44501116 A G het . 4 +exonic ZNF155 chr19 44501227 44501227 A G het . 24 +exonic ZNF155 chr19 44501518 44501518 G A het . 16 +ncRNA_exonic LOC101928063 chr19 44501627 44501627 T C het . 6 +ncRNA_exonic LOC101928063 chr19 44503379 44503379 C T het . 20 +ncRNA_intronic LOC101928063 chr19 44503542 44503542 A - het . 2 +ncRNA_intronic LOC101928063 chr19 44505969 44505969 G A het . 2 +intronic ZNF230 chr19 44510933 44510933 A T het . 2 +UTR5 ZNF230(NM_006300:c.-29A>T) chr19 44511202 44511202 A T het . 14 +UTR5 ZNF230(NM_006300:c.-8T>G) chr19 44511223 44511223 T G het . 12 +exonic ZNF230 chr19 44515352 44515352 T G het . 16 +exonic ZNF230 chr19 44515514 44515514 C A het . 29 +intergenic ZNF230(dist=8687),ZNF222(dist=2735) chr19 44526759 44526759 C A het . 2 +intronic ZNF222 chr19 44530390 44530390 T C het . 3 +exonic ZNF222 chr19 44535999 44535999 G T het . 16 +intergenic ZNF222(dist=8288),ZNF223(dist=10614) chr19 44545550 44545550 G C het . 2 +exonic ZNF223 chr19 44564981 44564981 G A het . 18 +intronic ZNF223 chr19 44565125 44565125 A G het . 4 +exonic ZNF223 chr19 44570393 44570393 C A het . 21 +exonic ZNF223 chr19 44570551 44570551 G A het . 31 +exonic ZNF223 chr19 44571154 44571154 T C het . 20 +UTR3 ZNF223(NM_013361:c.*618C>G) chr19 44572048 44572048 C G het . 2 +intronic ZNF284 chr19 44580758 44580758 T C het . 4 +intronic ZNF284 chr19 44585159 44585159 T A het . 7 +intronic ZNF284 chr19 44586076 44586076 T C het . 8 +exonic ZNF284 chr19 44590000 44590002 CTC - het . 20 +exonic ZNF284 chr19 44590558 44590558 C T het . 19 +exonic ZNF284 chr19 44591360 44591360 G A het . 7 +UTR3 ZNF284(NM_001037813:c.*686_*688delinsTTT) chr19 44592099 44592101 GCG TTT het . 2 +intronic ZNF224 chr19 44604914 44604914 T C het . 5 +intronic ZNF224 chr19 44605123 44605123 G A het . 9 +exonic ZNF224 chr19 44605324 44605324 A G het . 23 +exonic ZNF224 chr19 44610665 44610665 A G het . 15 +exonic ZNF224 chr19 44610798 44610798 A T het . 9 +exonic ZNF224 chr19 44611066 44611066 T C het . 8 +exonic ZNF224 chr19 44611420 44611420 A G het . 3 +exonic ZNF224 chr19 44612005 44612005 A G het . 12 +exonic ZNF224 chr19 44612014 44612014 A T het . 11 +exonic ZNF224 chr19 44612231 44612231 A G het . 14 +ncRNA_intronic LOC100379224 chr19 44613119 44613119 C T het . 2 +intronic ZNF225 chr19 44634903 44634903 A G het . 3 +intergenic ZNF225(dist=3451),ZNF234(dist=3290) chr19 44642420 44642420 C T het . 2 +exonic ZNF234 chr19 44660791 44660791 G A het . 36 +exonic ZNF234 chr19 44661556 44661556 C A het . 26 +exonic ZNF234 chr19 44661952 44661952 C A het . 23 +UTR3 ZNF234(NM_001144824:c.*2_*3insA,NM_006630:c.*2_*3insA) chr19 44662274 44662274 - A het . 19 +intronic ZNF226 chr19 44676148 44676148 G C het . 8 +intronic ZNF226 chr19 44676932 44676932 A T het . 7 +intronic ZNF226 chr19 44677233 44677233 A G het . 5 +exonic ZNF226 chr19 44679719 44679719 C A het . 12 +exonic ZNF226 chr19 44681744 44681744 C T het . 25 +intergenic ZNF226(dist=30846),ZNF227(dist=3997) chr19 44712684 44712684 G T het . 2 +intronic ZNF227 chr19 44721281 44721281 G A het . 2 +intronic ZNF227 chr19 44721405 44721405 C T het . 2 +intronic ZNF227 chr19 44721699 44721699 C T het . 19 +exonic ZNF227 chr19 44739303 44739303 T C het . 21 +exonic ZNF227 chr19 44739399 44739399 T C het . 11 +intergenic ZNF227(dist=20589),ZNF233(dist=2023) chr19 44762010 44762010 C G het . 2 +intergenic ZNF227(dist=20750),ZNF233(dist=1862) chr19 44762171 44762171 T C het . 2 +UTR5 ZNF233(NM_001207005:c.-4450A>G,NM_001330529:c.-4450A>G) chr19 44764064 44764064 A G het . 12 +intronic ZNF233 chr19 44772588 44772588 A G het . 3 +exonic ZNF233 chr19 44778405 44778405 A C het . 23 +exonic ZNF235 chr19 44792701 44792701 T G het . 10 +exonic ZNF235 chr19 44792969 44792969 G A het . 18 +intronic ZNF235 chr19 44795219 44795219 T C het . 2 +intronic ZNF235 chr19 44798268 44798268 C T het . 2 +intronic ZNF235 chr19 44800268 44800268 T G het . 2 +intronic ZNF235 chr19 44807360 44807361 AT - het . 6 +downstream ZNF112(dist=625) chr19 44830081 44830081 C T het . 2 +exonic ZNF112 chr19 44832684 44832684 T G het . 34 +exonic ZNF112 chr19 44832875 44832875 A G het . 21 +exonic ZNF112 chr19 44832992 44832992 C G het . 13 +exonic ZNF112 chr19 44833506 44833506 C T het . 14 +exonic ZNF112 chr19 44833851 44833851 G C het . 33 +intronic ZNF112 chr19 44834982 44834982 A T het . 2 +exonic ZNF112 chr19 44840789 44840789 T C het . 19 +intronic ZNF112 chr19 44845385 44845385 C T het . 7 +intronic ZNF112 chr19 44845453 44845453 C A het . 8 +intronic ZNF112 chr19 44847481 44847481 A - het . 10 +intronic ZNF112 chr19 44852134 44852134 T C het . 2 +intronic ZNF112 chr19 44852503 44852503 G A het . 2 +intergenic ZNF112(dist=11164),ZNF285(dist=7269) chr19 44882539 44882539 C A het . 3 +exonic ZNF285 chr19 44890697 44890697 A G het . 3 +exonic ZNF285 chr19 44890801 44890801 T C het . 18 +exonic ZNF285 chr19 44891784 44891784 T C het . 20 +intronic ZNF285 chr19 44892333 44892333 A T het . 12 +intronic ZNF285 chr19 44894364 44894364 G - het . 2 +UTR5 ZNF285(NM_001291490:c.-4546C>G) chr19 44896487 44896487 G C het . 6 +intronic ZNF285 chr19 44896857 44896857 G A het . 8 +intronic ZNF285 chr19 44898575 44898575 - A het . 2 +intronic ZNF285 chr19 44898662 44898662 C T het . 14 +intronic ZNF285 chr19 44901526 44901526 A G het . 11 +intronic ZNF285 chr19 44901557 44901557 A G het . 2 +intergenic ZNF285(dist=14670),ZNF229(dist=9976) chr19 44920447 44920447 C G het . 2 +intergenic ZNF285(dist=14696),ZNF229(dist=9950) chr19 44920473 44920473 G C het . 3 +downstream ZNF229(dist=647) chr19 44929776 44929776 T G het . 2 +exonic ZNF229 chr19 44932910 44932910 - T het . 13 +exonic ZNF229 chr19 44932972 44932972 C T het . 11 +exonic ZNF229 chr19 44933947 44933947 G A het . 12 +exonic ZNF229 chr19 44934489 44934489 G A het . 15 +intronic ZNF229 chr19 44936245 44936245 A G het . 4 +intronic ZNF229 chr19 44937743 44937743 T C het . 2 +UTR5 ZNF229(NM_014518:c.-19A>G,NM_001278510:c.-19A>G) chr19 44947050 44947050 T C het . 34 +intronic ZNF229 chr19 44947214 44947214 G A het . 3 +intergenic ZNF229(dist=4585),ZNF180(dist=21294) chr19 44957351 44957351 A G het . 2 +intergenic ZNF229(dist=12316),ZNF180(dist=13563) chr19 44965082 44965082 A - het . 3 +intergenic ZNF229(dist=12325),ZNF180(dist=13554) chr19 44965091 44965091 T G het . 3 +intergenic ZNF229(dist=15747),ZNF180(dist=10132) chr19 44968513 44968513 C G het . 11 +intergenic ZNF229(dist=23292),ZNF180(dist=2587) chr19 44976058 44976058 C T het . 12 +intergenic ZNF229(dist=24305),ZNF180(dist=1574) chr19 44977071 44977071 C T het . 9 +intergenic ZNF229(dist=24474),ZNF180(dist=1405) chr19 44977240 44977240 A G het . 21 +intergenic ZNF229(dist=24496),ZNF180(dist=1383) chr19 44977262 44977262 T C het . 21 +exonic ZNF180 chr19 44981375 44981375 T C het . 24 +exonic ZNF180 chr19 44981883 44981883 C G het . 22 +exonic ZNF180 chr19 44983567 44983567 C G het . 15 +intronic ZNF180 chr19 44983729 44983729 G - het . 6 +intronic ZNF180 chr19 44986223 44986223 G C het . 3 +intronic ZNF180 chr19 44993923 44993923 - AGAAG het . 3 +intronic ZNF180 chr19 44993937 44993937 T A het . 5 +exonic ZNF180 chr19 45001346 45001346 G A het . 4 +UTR5 ZNF180(NM_001288762:c.-22637C>G,NM_001288759:c.-21C>G,NM_001278508:c.-13C>G,NM_013256:c.-13C>G) chr19 45004305 45004305 G C het . 10 +intronic CEACAM20 chr19 45013414 45013414 A - het . 2 +intronic CEACAM20 chr19 45013423 45013423 A G het . 2 +intronic CEACAM20 chr19 45015596 45015596 T G het . 7 +exonic CEACAM20 chr19 45016116 45016116 A G het . 19 +splicing CEACAM20(NM_001102598:exon7:c.1169+1A>-,NM_001102598:exon8:c.1170-1A>-,NM_001102597:exon8:c.1448+1A>-,NM_001102597:exon9:c.1449-1A>-,NM_001102600:exon8:c.1448+1A>-,NM_001102600:exon9:c.1449-1A>-,NM_001102599:exon7:c.1169+1A>-,NM_001102599:exon8:c.1170-1A>-) chr19 45016991 45016991 T - het . 7 +exonic CEACAM20 chr19 45017249 45017249 T C het . 11 +intronic CEACAM20 chr19 45022094 45022094 C T het . 1 +exonic CEACAM20 chr19 45024581 45024581 C G het . 17 +exonic CEACAM20 chr19 45028169 45028169 C T het . 29 +intronic CEACAM20 chr19 45030200 45030200 G A het . 2 +intronic CEACAM20 chr19 45030414 45030414 A G het . 2 +ncRNA_intronic CEACAM22P chr19 45052068 45052068 G A het . 2 +ncRNA_intronic CEACAM22P chr19 45057443 45057443 T C het . 3 +intergenic CEACAM22P(dist=5451),IGSF23(dist=51339) chr19 45065601 45065601 T C het . 2 +intergenic CEACAM22P(dist=14027),IGSF23(dist=42763) chr19 45074177 45074177 G T het . 3 +intergenic CEACAM22P(dist=40537),IGSF23(dist=16253) chr19 45100687 45100687 - TCTT het . 2 +intergenic CEACAM22P(dist=52967),IGSF23(dist=3823) chr19 45113117 45113117 T G het . 2 +exonic IGSF23 chr19 45116966 45116966 A C het . 4 +exonic IGSF23 chr19 45116974 45116974 A C het . 4 +intronic IGSF23 chr19 45120611 45120611 A G het . 1 +intronic IGSF23 chr19 45126994 45126994 A G het . 6 +UTR5 PVR(NM_006505:c.-57G>T,NM_001135770:c.-57G>T,NM_001135769:c.-57G>T,NM_001135768:c.-57G>T) chr19 45147340 45147340 G T het . 9 +intronic PVR chr19 45147518 45147518 - A het . 2 +intronic PVR chr19 45147542 45147542 T C het . 2 +intronic PVR chr19 45147577 45147577 G - het . 2 +intronic PVR chr19 45157113 45157113 - G het . 5 +exonic PVR chr19 45162038 45162038 A G het . 19 +exonic PVR chr19 45162047 45162047 C A het . 18 +intronic CEACAM19 chr19 45179745 45179745 G A het . 2 +intergenic CEACAM16(dist=19357),BCL3(dist=18635) chr19 45233343 45233343 G A het . 4 +intronic BCAM chr19 45316372 45316372 T C het . 1 +exonic BCAM chr19 45322744 45322744 A G het . 19 +intronic NECTIN2 chr19 45363791 45363791 T G het . 3 +intronic NECTIN2 chr19 45363820 45363820 T G het . 3 +intronic NECTIN2 chr19 45364213 45364213 A - het . 4 +intronic NECTIN2 chr19 45366345 45366345 G A het . 2 +intronic NECTIN2 chr19 45366410 45366410 G C het . 2 +exonic NECTIN2 chr19 45389224 45389224 A G het . 23 +intronic TOMM40 chr19 45395619 45395619 A G het . 10 +exonic TOMM40 chr19 45395714 45395714 T C het . 19 +intronic TOMM40 chr19 45395909 45395909 C G het . 2 +exonic TOMM40 chr19 45396144 45396144 C T het . 4 +intronic TOMM40 chr19 45396219 45396219 C T het . 3 +intronic TOMM40 chr19 45401047 45401047 A G het . 1 +intronic TOMM40 chr19 45404431 45404431 T C het . 7 +intronic TOMM40 chr19 45404691 45404691 A G het . 2 +exonic APOE chr19 45409167 45409167 C G het . 2 +intronic APOE chr19 45410002 45410002 G A het . 6 +exonic APOE chr19 45411072 45411072 C A het . 19 +exonic APOE chr19 45411941 45411941 T C het . 19 +intergenic APOE(dist=1799),APOC1(dist=3053) chr19 45414451 45414451 T C het . 2 +exonic APOC4 chr19 45448465 45448465 T G het . 17 +ncRNA_intronic APOC4-APOC2 chr19 45451620 45451620 T A het . 3 +intergenic APOC4-APOC2(dist=1414),CLPTM1(dist=3606) chr19 45454236 45454236 G A het . 2 +intronic CLPTM1 chr19 45458146 45458146 A C het . 7 +UTR5 CLPTM1(NM_001294:c.-60C>T) chr19 45458593 45458593 C T het . 2 +intronic CLPTM1 chr19 45475096 45475096 A G het . 2 +exonic CLPTM1 chr19 45476422 45476422 T C het . 10 +intronic CLPTM1 chr19 45477911 45477911 T - het . 4 +intronic CLPTM1 chr19 45477951 45477951 T C het . 5 +intronic CLPTM1 chr19 45487905 45487905 G - het . 2 +intronic CLPTM1 chr19 45488434 45488434 A G het . 11 +intronic CLPTM1 chr19 45488567 45488567 T C het . 13 +exonic CLPTM1 chr19 45490570 45490570 A G het . 23 +exonic CLPTM1 chr19 45490636 45490636 T C het . 26 +intronic CLPTM1 chr19 45493635 45493635 C G het . 3 +intronic CLPTM1 chr19 45494247 45494247 - C het . 2 +intronic CLPTM1 chr19 45495668 45495668 G C het . 12 +intronic CLPTM1 chr19 45495682 45495682 A G het . 12 +UTR3 CLPTM1(NM_001282176:c.*148T>C,NM_001282175:c.*148T>C,NM_001294:c.*148T>C) chr19 45496303 45496303 T C het . 9 +downstream CLPTM1(dist=392) chr19 45496996 45496996 C T het . 3 +intergenic CLPTM1(dist=2784),RELB(dist=5319) chr19 45499388 45499388 T C het . 2 +intronic RELB chr19 45506772 45506772 T A het . 3 +intronic RELB chr19 45521747 45521747 - AG het . 2 +intronic RELB chr19 45535672 45535672 - A het . 4 +intronic RELB chr19 45536036 45536036 C G het . 4 +intronic RELB chr19 45537418 45537421 AAAT - het . 9 +exonic CLASRP chr19 45561063 45561063 A G het . 25 +exonic CLASRP chr19 45567607 45567609 CTC - het . 7 +intronic CLASRP chr19 45571402 45571402 T G het . 4 +intronic CLASRP chr19 45571498 45571498 G A het . 3 +intronic CLASRP chr19 45571781 45571781 T C het . 2 +intronic CLASRP chr19 45572248 45572249 AA - het . 3 +intronic GEMIN7 chr19 45588166 45588166 A C het . 3 +ncRNA_intronic GEMIN7-AS1 chr19 45589078 45589079 GT AC het . 3 +intronic PPP1R37 chr19 45643585 45643585 T G het . 9 +intronic NKPD1 chr19 45660972 45660972 A C het . 3 +upstream BLOC1S3,TRAPPC6A(dist=443) chr19 45681560 45681560 T C het . 4 +exonic BLOC1S3 chr19 45682665 45682666 GG AA het . 11 +exonic BLOC1S3 chr19 45682824 45682824 G A het . 11 +intronic EXOC3L2 chr19 45734433 45734433 T C het . 2 +intronic MARK4 chr19 45765145 45765145 T C het . 2 +intronic MARK4 chr19 45769575 45769575 G A het . 9 +intronic MARK4 chr19 45771093 45771093 - T het . 2 +intronic MARK4 chr19 45772691 45772691 C T het . 2 +intronic MARK4 chr19 45774680 45774680 A G het . 6 +intronic MARK4 chr19 45781916 45781916 C A het . 5 +intronic MARK4 chr19 45793115 45793115 A G het . 9 +intronic MARK4 chr19 45797593 45797593 T C het . 16 +exonic MARK4 chr19 45801018 45801018 T C het . 2 +intronic MARK4 chr19 45805147 45805147 G A het . 3 +exonic CKM chr19 45810035 45810035 A G het . 20 +intronic CKM chr19 45814947 45814947 C T het . 5 +exonic CKM chr19 45815033 45815033 G T het . 4 +intronic CKM chr19 45815248 45815248 T C het . 7 +exonic CKM chr19 45818835 45818835 A G het . 9 +exonic KLC3 chr19 45849909 45849909 A G het . 23 +exonic ERCC2 chr19 45854919 45854919 T G het . 14 +exonic ERCC2 chr19 45855524 45855524 G A het . 27 +intronic ERCC2 chr19 45856468 45856468 G C het . 17 +intronic ERCC2 chr19 45858245 45858245 C T het . 6 +intronic ERCC2 chr19 45865002 45865002 C A het . 5 +exonic ERCC2 chr19 45867259 45867259 C T het . 5 +intronic ERCC2 chr19 45868006 45868006 A T het . 4 +intronic ERCC2 chr19 45868038 45868038 G A het . 7 +exonic ERCC2 chr19 45868309 45868309 T G het . 11 +intronic ERCC2 chr19 45868478 45868478 T A het . 7 +intronic ERCC2 chr19 45870294 45870294 A G het . 4 +intronic ERCC2 chr19 45872036 45872036 C T het . 25 +upstream ERCC2(dist=97) chr19 45873942 45873942 G C het . 5 +exonic CD3EAP chr19 45912002 45912002 A C het . 25 +exonic CD3EAP chr19 45912343 45912343 A G het . 26 +exonic CD3EAP chr19 45912406 45912406 G A het . 24 +exonic CD3EAP chr19 45912490 45912492 AAG - het . 23 +exonic CD3EAP chr19 45912736 45912736 C A het . 10 +UTR3 CD3EAP(NM_001297590:c.*327C>G,NM_012099:c.*327C>G) chr19 45913086 45913086 C G het . 14 +UTR3 CD3EAP(NM_001297590:c.*334T>C,NM_012099:c.*334T>C) chr19 45913093 45913093 T C het . 12 +intronic ERCC1 chr19 45920264 45920264 G A het . 18 +intronic ERCC1 chr19 45922323 45922323 G T het . 18 +exonic ERCC1 chr19 45923653 45923653 A G het . 26 +intergenic ERCC1(dist=4044),MIR6088(dist=8691) chr19 45931221 45931221 G A het . 8 +intergenic ERCC1(dist=4160),MIR6088(dist=8575) chr19 45931337 45931337 C G het . 3 +intergenic ERCC1(dist=4164),MIR6088(dist=8571) chr19 45931341 45931341 C G het . 3 +exonic FOSB chr19 45971961 45971961 C G het . 12 +intronic FOSB chr19 45972039 45972039 A C het . 6 +intronic FOSB chr19 45974593 45974593 T C het . 9 +UTR3 FOSB(NM_001114171:c.*2105A>G,NM_006732:c.*2105A>G) chr19 45978375 45978375 A G het . 2 +intronic RTN2 chr19 45998346 45998346 C A het . 15 +exonic VASP chr19 46024584 46024584 T G het . 8 +intronic VASP chr19 46025388 46025388 G A het . 7 +intronic VASP chr19 46025400 46025400 G C het . 11 +intronic VASP chr19 46026970 46026970 T A het . 9 +intronic VASP chr19 46027752 46027752 C T het . 5 +intronic VASP chr19 46029172 46029172 C G het . 14 +UTR3 OPA3(NM_025136:c.*152G>A) chr19 46056620 46056620 C T het . 6 +exonic OPA3 chr19 46057081 46057081 A G het . 14 +intronic OPA3 chr19 46065137 46065137 T C het . 2 +intronic OPA3 chr19 46078485 46078485 T C het . 2 +intronic EML2 chr19 46120003 46120003 G A het . 9 +exonic EML2 chr19 46124531 46124531 G A het . 6 +intronic EML2 chr19 46124694 46124694 - G het . 3 +intronic EML2 chr19 46136268 46136268 - T het . 10 +intronic EML2 chr19 46141677 46141677 A G het . 5 +intronic EML2 chr19 46141994 46141994 T C het . 9 +ncRNA_exonic EML2-AS1 chr19 46144814 46144814 G A het . 5 +ncRNA_exonic EML2-AS1 chr19 46145661 46145661 C T het . 6 +intergenic EML2(dist=6015),GIPR(dist=16600) chr19 46154902 46154902 - C het . 2 +intergenic EML2(dist=6019),GIPR(dist=16596) chr19 46154906 46154906 - T het . 2 +intergenic EML2(dist=7032),GIPR(dist=15583) chr19 46155919 46155919 G A het . 2 +intronic GIPR chr19 46180150 46180150 A G het . 2 +intronic GIPR chr19 46180184 46180184 C T het . 11 +intronic GIPR chr19 46180414 46180414 G T het . 15 +exonic GIPR chr19 46181392 46181392 G C het . 34 +intronic GIPR chr19 46183954 46183954 G T het . 3 +intronic GIPR chr19 46184757 46184757 - AAAC het . 9 +UTR3 GIPR(NM_001308418:c.*24C>A,NM_000164:c.*24C>A) chr19 46185217 46185217 C A het . 17 +intronic QPCTL chr19 46202172 46202172 C T het . 6 +intronic QPCTL chr19 46205050 46205050 T C het . 5 +exonic QPCTL chr19 46206262 46206262 G A het . 9 +UTR3 FBXO46(NM_001080469:c.*241delT,NM_001329634:c.*241delT,NM_001329633:c.*241delT,NM_001329632:c.*241delT) chr19 46214701 46214701 A - het . 5 +UTR3 FBXO46(NM_001080469:c.*241T>A,NM_001329634:c.*241T>A,NM_001329633:c.*241T>A,NM_001329632:c.*241T>A) chr19 46214701 46214701 A T het . 6 +intronic BHMG1 chr19 46238555 46238555 T C het . 6 +intronic BHMG1 chr19 46248407 46248407 G A het . 13 +intronic BHMG1 chr19 46253619 46253619 - TTTTC het . 4 +intronic BHMG1 chr19 46258024 46258024 A G het . 5 +intronic BHMG1 chr19 46260375 46260375 C T het . 4 +exonic BHMG1 chr19 46262286 46262286 C A het . 13 +UTR3 SIX5(NM_175875:c.*161C>G) chr19 46268598 46268598 G C het . 5 +exonic SIX5 chr19 46268902 46268902 C T het . 11 +exonic SIX5 chr19 46269076 46269076 G A het . 8 +exonic SIX5 chr19 46269313 46269313 G C het . 8 +ncRNA_exonic DM1-AS chr19 46274972 46274972 A C het . 12 +intronic DMPK chr19 46277288 46277288 C A het . 3 +intronic DMPK chr19 46281745 46281745 A G het . 7 +intronic DMPK chr19 46282503 46282503 A C het . 12 +intronic DMWD chr19 46290963 46290963 A C het . 1 +intronic RSPH6A chr19 46303628 46303628 C T het . 2 +intronic RSPH6A chr19 46305530 46305530 T C het . 4 +exonic RSPH6A chr19 46307592 46307592 G C het . 16 +intronic RSPH6A chr19 46309663 46309663 A G het . 2 +intronic RSPH6A chr19 46313825 46313825 A T het . 5 +intronic SYMPK chr19 46318963 46318963 C A het . 5 +intronic SYMPK chr19 46326131 46326131 G C het . 6 +intronic SYMPK chr19 46326200 46326200 A G het . 3 +exonic SYMPK chr19 46327053 46327053 C T het . 13 +intronic SYMPK chr19 46327166 46327166 G A het . 5 +intronic SYMPK chr19 46327185 46327185 G C het . 3 +intronic SYMPK chr19 46329438 46329438 G A het . 2 +intronic SYMPK chr19 46330547 46330547 A G het . 2 +intronic SYMPK chr19 46331302 46331302 C G het . 2 +intronic SYMPK chr19 46341693 46341693 G A het . 5 +intronic SYMPK chr19 46344485 46344485 C G het . 3 +intronic SYMPK chr19 46350375 46350375 A C het . 1 +intronic FOXA3 chr19 46374645 46374645 A G het . 1 +exonic FOXA3 chr19 46375779 46375779 C T het . 38 +intergenic MYPOP(dist=5052),NANOS2(dist=5559) chr19 46410914 46410914 A - het . 2 +intergenic NANOS2(dist=5828),NOVA2(dist=13128) chr19 46423864 46423864 C A het . 2 +intergenic NANOS2(dist=12921),NOVA2(dist=6035) chr19 46430957 46430957 T - het . 2 +intergenic NANOS2(dist=12975),NOVA2(dist=5981) chr19 46431011 46431011 T G het . 2 +exonic NOVA2 chr19 46443739 46443739 T G het . 12 +intronic NOVA2 chr19 46458843 46458843 T A het . 2 +intronic NOVA2 chr19 46469482 46469482 G C het . 4 +intergenic NOVA2(dist=20454),CCDC61(dist=1608) chr19 46497111 46497111 - A het . 2 +upstream CCDC61(dist=366) chr19 46498353 46498353 C G het . 5 +intronic CCDC61 chr19 46498827 46498827 G A het . 4 +intronic CCDC61 chr19 46498835 46498835 C T het . 3 +intronic CCDC61 chr19 46499537 46499537 A G het . 2 +intronic CCDC61 chr19 46508524 46508524 - C het . 2 +exonic CCDC61 chr19 46511548 46511548 T C het . 5 +exonic CCDC61 chr19 46520026 46520026 A G het . 7 +intronic IGFL4 chr19 46543249 46543249 T C het . 7 +ncRNA_intronic LOC400706 chr19 46566661 46566661 A G het . 2 +intergenic LOC400706(dist=21803),IGFL3(dist=20638) chr19 46602690 46602690 T A het . 5 +intergenic LOC400706(dist=36022),IGFL3(dist=6419) chr19 46616909 46616909 G A het . 2 +intronic IGFL3 chr19 46627592 46627592 G A het . 16 +intergenic IGFL3(dist=12620),IGFL2(dist=10488) chr19 46640551 46640551 C A het . 6 +intergenic IGFL3(dist=15283),IGFL2(dist=7825) chr19 46643214 46643214 T C het . 2 +UTR3 IGFL2(NM_001002915:c.*55A>G,NM_001135113:c.*55A>G) chr19 46664400 46664400 A G het . 16 +intergenic IGFL2(dist=1623),IGFL2-AS1(dist=26102) chr19 46666184 46666184 A G het . 2 +intergenic IGFL2(dist=6614),IGFL2-AS1(dist=21111) chr19 46671175 46671175 A G het . 3 +intergenic IGFL2(dist=12158),IGFL2-AS1(dist=15567) chr19 46676719 46676719 T C het . 2 +intergenic IGFL2(dist=15739),IGFL2-AS1(dist=11986) chr19 46680300 46680300 A T het . 2 +UTR3 IGFL1(NM_198541:c.*168A>C) chr19 46734255 46734255 A C het . 4 +intergenic IGFL1(dist=20214),HIF3A(dist=45589) chr19 46754714 46754714 G A het . 2 +intergenic IGFL1(dist=52857),HIF3A(dist=12946) chr19 46787357 46787357 A G het . 2 +intergenic IGFL1(dist=57503),HIF3A(dist=8300) chr19 46792003 46792003 T C het . 2 +intergenic IGFL1(dist=59510),HIF3A(dist=6293) chr19 46794010 46794010 G A het . 2 +exonic HIF3A chr19 46811984 46811984 A G het . 6 +intronic HIF3A chr19 46815297 46815297 T C het . 20 +exonic HIF3A chr19 46815499 46815499 T C het . 11 +intronic HIF3A chr19 46819102 46819102 T C het . 2 +intronic PPP5C chr19 46857257 46857257 G A het . 7 +intronic PPP5C chr19 46864908 46864908 C G het . 3 +intronic PPP5C chr19 46887007 46887007 G C het . 5 +intronic PPP5C chr19 46893465 46893465 A G het . 7 +intergenic PPP5C(dist=3001),CCDC8(dist=16353) chr19 46897233 46897233 C G het . 2 +intergenic PPP5C(dist=4002),CCDC8(dist=15352) chr19 46898234 46898234 T C het . 2 +exonic CCDC8 chr19 46914921 46914921 G A het . 36 +intergenic CCDC8(dist=19310),PNMA8A(dist=33617) chr19 46936131 46936131 A T het . 2 +intergenic CCDC8(dist=32262),PNMA8A(dist=20665) chr19 46949083 46949083 G T het . 2 +intergenic CCDC8(dist=37768),PNMA8A(dist=15159) chr19 46954589 46954589 T C het . 2 +intergenic CCDC8(dist=39750),PNMA8A(dist=13177) chr19 46956571 46956571 A T het . 3 +intergenic CCDC8(dist=41219),PNMA8A(dist=11708) chr19 46958040 46958040 C T het . 2 +intergenic CCDC8(dist=42832),PNMA8A(dist=10095) chr19 46959653 46959653 T C het . 2 +UTR3 PNMA8A(NM_018215:c.*45A>C,NM_001103149:c.*23A>C) chr19 46971773 46971773 T G het . 8 +UTR5 PNMA8A(NM_018215:c.-15G>A,NM_001103149:c.-15G>A) chr19 46974307 46974307 C T het . 2 +upstream PNMA8A(dist=903) chr19 46975723 46975723 C T het . 2 +exonic PNMA8B chr19 46997522 46997522 C T het . 10 +intronic PPP5D1 chr19 47000503 47000503 C T het . 2 +intronic PPP5D1 chr19 47030432 47030432 T C het . 2 +intronic PPP5D1 chr19 47035627 47035627 C T het . 4 +intronic PPP5D1 chr19 47037297 47037297 C T het . 7 +intronic PPP5D1 chr19 47037305 47037305 G A het . 8 +intronic PPP5D1 chr19 47038397 47038397 C A het . 4 +intronic PPP5D1 chr19 47062815 47062815 G C het . 4 +intronic PPP5D1 chr19 47062856 47062856 A G het . 10 +intronic PPP5D1 chr19 47062928 47062929 GC AA het . 8 +intronic PPP5D1 chr19 47088239 47088239 C T het . 3 +intronic PPP5D1 chr19 47095746 47095746 A G het . 1 +intronic CALM3 chr19 47105585 47105585 - T het . 2 +intronic CALM3 chr19 47109011 47109011 T C het . 5 +intronic CALM3 chr19 47111663 47111663 T C het . 7 +exonic PTGIR chr19 47124714 47124714 T G het . 10 +exonic GNG8 chr19 47137459 47137459 C T het . 12 +intronic GNG8 chr19 47137482 47137483 AT - het . 14 +upstream GNG8(dist=33) chr19 47137972 47137972 G A het . 5 +exonic PRKD2 chr19 47177913 47177913 A G het . 17 +intronic PRKD2 chr19 47193850 47193850 T C het . 8 +intronic STRN4 chr19 47228985 47228985 G C het . 2 +intronic STRN4 chr19 47228990 47228990 T C het . 2 +UTR5 SLC1A5(NM_001145145:c.-85A>G) chr19 47287939 47287939 T C het . 3 +exonic SLC1A5 chr19 47291174 47291174 G C het . 6 +intergenic SLC1A5(dist=25960),SNAR-E(dist=16040) chr19 47317802 47317802 A G het . 2 +exonic AP2S1 chr19 47342867 47342867 A C het . 14 +intronic AP2S1 chr19 47348671 47348674 TAAT - het . 4 +intergenic AP2S1(dist=7228),ARHGAP35(dist=60453) chr19 47361480 47361480 C T het . 3 +intergenic AP2S1(dist=41186),ARHGAP35(dist=26495) chr19 47395438 47395438 G T het . 4 +intergenic AP2S1(dist=45137),ARHGAP35(dist=22544) chr19 47399389 47399389 A G het . 2 +exonic ARHGAP35 chr19 47425424 47425424 G T het . 12 +intronic ARHGAP35 chr19 47468723 47468723 - TTTG het . 6 +intergenic ARHGAP35(dist=3185),NPAS1(dist=11583) chr19 47511518 47511518 C T het . 2 +intronic NPAS1 chr19 47523365 47523365 C G het . 2 +intronic NPAS1 chr19 47525931 47525931 C G het . 2 +intronic NPAS1 chr19 47525934 47525935 TG CC het . 2 +intronic NPAS1 chr19 47533210 47533210 T C het . 4 +intronic NPAS1 chr19 47534779 47534781 TTT - het . 2 +intronic NPAS1 chr19 47534794 47534794 T - het . 2 +intronic NPAS1 chr19 47538028 47538028 A G het . 2 +exonic NPAS1 chr19 47543774 47543774 G A het . 7 +intronic NPAS1 chr19 47548327 47548327 A T het . 2 +exonic NPAS1 chr19 47548678 47548678 G A het . 6 +exonic TMEM160 chr19 47549431 47549431 G T het . 4 +exonic TMEM160 chr19 47549454 47549454 C T het . 5 +intronic TMEM160 chr19 47549791 47549791 A G het . 2 +intergenic TMEM160(dist=11751),ZC3H4(dist=3814) chr19 47563633 47563633 A G het . 2 +intronic ZC3H4 chr19 47584699 47584699 C T het . 7 +exonic ZC3H4 chr19 47585517 47585517 G C het . 19 +intronic ZC3H4 chr19 47585698 47585698 G C het . 5 +intronic ZC3H4 chr19 47587772 47587772 G A het . 7 +intronic ZC3H4 chr19 47588202 47588202 G T het . 3 +intronic ZC3H4 chr19 47600441 47600441 G A het . 2 +intergenic ZC3H4(dist=2759),SAE1(dist=14312) chr19 47619768 47619768 C T het . 2 +intergenic ZC3H4(dist=5052),SAE1(dist=12019) chr19 47622061 47622061 T - het . 2 +intergenic ZC3H4(dist=14875),SAE1(dist=2196) chr19 47631884 47631884 C T het . 2 +intronic SAE1 chr19 47700439 47700440 AA - het . 6 +intronic CCDC9 chr19 47761543 47761543 T C het . 8 +UTR5 CCDC9(NM_015603:c.-12G>C) chr19 47761646 47761646 G C het . 28 +intronic CCDC9 chr19 47763573 47763573 C T het . 10 +exonic CCDC9 chr19 47770015 47770015 A C het . 7 +exonic CCDC9 chr19 47770032 47770032 C T het . 10 +intronic CCDC9 chr19 47773786 47773786 A G het . 11 +intronic CCDC9 chr19 47773973 47773973 T C het . 4 +intronic CCDC9 chr19 47774447 47774447 G A het . 4 +exonic CCDC9 chr19 47774572 47774572 C T het . 11 +exonic CCDC9 chr19 47774772 47774772 T C het . 10 +exonic INAFM1 chr19 47778412 47778412 G T het . 9 +intergenic INAFM1(dist=6231),C5AR1(dist=27893) chr19 47785211 47785211 C T het . 2 +intronic C5AR1 chr19 47822611 47822611 G A het . 1 +exonic C5AR1 chr19 47823484 47823484 T C het . 10 +exonic C5AR1 chr19 47823871 47823871 G T het . 10 +intergenic C5AR1(dist=4100),C5AR2(dist=5976) chr19 47829427 47829428 TT - het . 2 +intergenic C5AR1(dist=5348),C5AR2(dist=4726) chr19 47830675 47830678 CCCC - het . 2 +intergenic C5AR1(dist=6842),C5AR2(dist=3235) chr19 47832169 47832169 G C het . 2 +intronic C5AR2 chr19 47841775 47841775 A T het . 2 +exonic C5AR2 chr19 47844937 47844937 T C het . 34 +exonic DHX34 chr19 47858489 47858489 C G het . 25 +intronic DHX34 chr19 47865305 47865305 C T het . 2 +intronic DHX34 chr19 47877307 47877307 G A het . 2 +intronic DHX34 chr19 47879613 47879613 A G het . 3 +UTR3 SLC8A2(NM_015063:c.*155_*156insC) chr19 47933190 47933190 - G het . 2 +intronic SLC8A2 chr19 47933728 47933728 A G het . 2 +intronic SLC8A2 chr19 47934277 47934277 A G het . 2 +intronic SLC8A2 chr19 47944710 47944710 T C het . 7 +intronic SLC8A2 chr19 47949946 47949946 A G het . 3 +intronic SLC8A2 chr19 47961007 47961007 C T het . 3 +exonic KPTN chr19 47980153 47980153 G A het . 15 +intronic KPTN chr19 47987180 47987180 A C het . 11 +splicing KPTN(NM_001291296:exon1:c.226+2T>G,NM_007059:exon1:c.226+2T>G) chr19 47987190 47987190 A C het . 13 +ncRNA_intronic NAPA-AS1 chr19 47991441 47991441 C G het . 2 +intergenic ZNF541(dist=12586),BICRA(dist=22498) chr19 48088955 48088955 - AAAAAAAGAAAAGG het . 1 +intergenic ZNF541(dist=20888),BICRA(dist=14196) chr19 48097257 48097257 A T het . 1 +intronic BICRA chr19 48159657 48159657 G A het . 2 +intronic BICRA chr19 48167935 48167935 T C het . 2 +intronic BICRA chr19 48169555 48169555 T - het . 2 +intronic BICRA chr19 48182568 48182568 C T het . 2 +exonic BICRA chr19 48182787 48182787 C T het . 14 +exonic BICRA chr19 48182946 48182946 T C het . 6 +exonic BICRA chr19 48183114 48183114 A G het . 7 +exonic BICRA chr19 48183771 48183771 C T het . 9 +exonic BICRA chr19 48184474 48184474 C T het . 16 +intronic BICRA chr19 48184643 48184643 G - het . 3 +intronic BICRA chr19 48195327 48195327 A G het . 2 +exonic BICRA chr19 48198286 48198286 A - het . 1 +exonic BICRA chr19 48198290 48198295 CCACTG - het . 1 +exonic BICRA chr19 48198304 48198307 CACG - het . 2 +exonic BICRA chr19 48198675 48198675 A G het . 11 +intronic BICRA chr19 48200268 48200268 - G het . 2 +intronic BICRA chr19 48200803 48200803 C T het . 2 +intronic BICRA chr19 48202125 48202125 C G het . 5 +exonic BICRA chr19 48205288 48205288 G A het . 7 +intronic EHD2 chr19 48221709 48221709 G A het . 3 +intronic EHD2 chr19 48236339 48236339 - A het . 4 +intronic EHD2 chr19 48239557 48239557 T G het . 4 +intronic EHD2 chr19 48241230 48241230 T C het . 2 +intronic EHD2 chr19 48244045 48244045 - T het . 2 +exonic EHD2 chr19 48244194 48244194 A G het . 11 +exonic EHD2 chr19 48244569 48244569 G A het . 29 +UTR3 EHD2(NM_014601:c.*3_*4insG) chr19 48244692 48244692 - G het . 6 +intronic NOP53 chr19 48250320 48250320 G C het . 6 +intronic NOP53 chr19 48250414 48250414 A G het . 3 +intronic NOP53 chr19 48253579 48253579 A G het . 5 +intronic NOP53 chr19 48253667 48253667 C G het . 3 +exonic NOP53 chr19 48255804 48255804 A G het . 9 +intronic NOP53 chr19 48258578 48258578 A G het . 2 +exonic NOP53 chr19 48258717 48258717 A G het . 6 +intronic NOP53 chr19 48260079 48260079 T C het . 5 +ncRNA_intronic NOP53-AS1 chr19 48262186 48262186 C T het . 2 +intronic SELENOW chr19 48282077 48282077 - GCAGCGG het . 20 +intronic SELENOW chr19 48282172 48282172 T C het . 4 +exonic SELENOW chr19 48284002 48284002 C T het . 14 +intronic SELENOW chr19 48284025 48284025 - G het . 15 +intergenic SELENOW(dist=10258),TPRX1(dist=6302) chr19 48298196 48298198 TTT - het . 5 +downstream TPRX1(dist=326) chr19 48304174 48304174 C T het . 2 +downstream TPRX1(dist=303) chr19 48304197 48304197 A T het . 2 +UTR3 TPRX1(NM_198479:c.*332C>T) chr19 48304700 48304700 G A het . 2 +upstream CRX(dist=645) chr19 48324452 48324452 C G het . 2 +intronic CRX chr19 48330733 48330733 T C het . 3 +intronic CRX chr19 48335029 48335029 T C het . 2 +intronic CRX chr19 48336405 48336405 G A het . 2 +intronic CRX chr19 48337812 48337812 C T het . 11 +intronic CRX chr19 48337897 48337897 G A het . 3 +intronic CRX chr19 48342335 48342335 C T het . 2 +intronic CRX chr19 48342342 48342342 C T het . 2 +downstream CRX(dist=785) chr19 48347371 48347371 A T het . 2 +intergenic CRX(dist=9310),SULT2A1(dist=17827) chr19 48355896 48355896 - TCTT het . 3 +intergenic CRX(dist=19497),SULT2A1(dist=7640) chr19 48366083 48366083 C T het . 4 +intronic SULT2A1 chr19 48385627 48385627 T C het . 13 +intronic SULT2A1 chr19 48387127 48387127 A - het . 12 +intronic SULT2A1 chr19 48389363 48389363 G A het . 13 +exonic SULT2A1 chr19 48389425 48389425 A G het . 22 +intergenic SULT2A1(dist=2845),SNAR-A12(dist=18436) chr19 48392499 48392499 G T het . 2 +intronic BSPH1 chr19 48478434 48478434 C A het . 3 +intronic BSPH1 chr19 48484150 48484150 G A het . 26 +exonic BSPH1 chr19 48495304 48495304 G A het . 18 +intronic ELSPBP1 chr19 48512121 48512121 G A het . 5 +intronic ELSPBP1 chr19 48516378 48516378 T C het . 2 +intronic ELSPBP1 chr19 48522894 48522894 C G het . 2 +intronic ELSPBP1 chr19 48523197 48523197 C A het . 4 +intronic ELSPBP1 chr19 48524716 48524716 A - het . 2 +exonic ELSPBP1 chr19 48525507 48525507 G A het . 15 +intronic CABP5 chr19 48533848 48533848 A - het . 15 +exonic CABP5 chr19 48543862 48543862 G A het . 17 +intronic CABP5 chr19 48544753 48544753 G A het . 3 +UTR3 PLA2G4C(NM_001159323:c.*139T>A,NM_003706:c.*54T>A,NM_001159322:c.*54T>A) chr19 48551546 48551546 A T het . 6 +intronic PLA2G4C chr19 48571767 48571767 A G het . 2 +intronic PLA2G4C chr19 48581253 48581253 C G het . 2 +intronic PLA2G4C chr19 48588148 48588148 C G het . 3 +intronic PLA2G4C chr19 48592183 48592183 G A het . 7 +intronic PLA2G4C chr19 48593591 48593591 G C het . 11 +exonic PLA2G4C chr19 48598823 48598823 A G het . 15 +intronic PLA2G4C chr19 48598916 48598916 A G het . 7 +exonic PLA2G4C chr19 48601454 48601454 T C het . 13 +intronic PLA2G4C chr19 48601528 48601528 G T het . 4 +exonic PLA2G4C chr19 48602948 48602948 T C het . 10 +intronic LIG1 chr19 48619071 48619071 C A het . 22 +intronic LIG1 chr19 48631131 48631131 C G het . 22 +intronic LIG1 chr19 48631314 48631314 G A het . 22 +intronic LIG1 chr19 48646993 48646993 C T het . 6 +exonic ZSWIM9 chr19 48685875 48685875 C A het . 33 +exonic ZSWIM9 chr19 48697961 48697961 C T het . 5 +intergenic ZSWIM9(dist=4178),CARD8(dist=1349) chr19 48705055 48705056 AA - het . 2 +UTR3 CARD8(NM_001351787:c.*53C>A) chr19 48707401 48707401 G T het . 14 +UTR3 CARD8(NM_001184902:c.*3471A>C,NM_014959:c.*3178A>C,NM_001184903:c.*3471A>C,NM_001184901:c.*3178A>C,NM_001184900:c.*3178A>C,NM_001351792:c.*3471A>C,NM_001351791:c.*3471A>C,NM_001351790:c.*3471A>C,NM_001351789:c.*3471A>C,NM_001351788:c.*3471A>C,NM_001351786:c.*3178A>C,NM_001351784:c.*3178A>C,NM_001351783:c.*3178A>C,NM_001351782:c.*3178A>C) chr19 48711789 48711789 T G het . 4 +UTR3 CARD8(NM_001184902:c.*3177delT,NM_014959:c.*2884delT,NM_001184903:c.*3177delT,NM_001184901:c.*2884delT,NM_001184900:c.*2884delT,NM_001351792:c.*3177delT,NM_001351791:c.*3177delT,NM_001351790:c.*3177delT,NM_001351789:c.*3177delT,NM_001351788:c.*3177delT,NM_001351786:c.*2884delT,NM_001351784:c.*2884delT,NM_001351783:c.*2884delT,NM_001351782:c.*2884delT) chr19 48712083 48712083 A - het . 3 +UTR3 CARD8(NM_001184902:c.*2364A>G,NM_014959:c.*2071A>G,NM_001184903:c.*2364A>G,NM_001184901:c.*2071A>G,NM_001184900:c.*2071A>G,NM_001351792:c.*2364A>G,NM_001351791:c.*2364A>G,NM_001351790:c.*2364A>G,NM_001351789:c.*2364A>G,NM_001351788:c.*2364A>G,NM_001351786:c.*2071A>G,NM_001351784:c.*2071A>G,NM_001351783:c.*2071A>G,NM_001351782:c.*2071A>G) chr19 48712896 48712896 T C het . 3 +exonic CARD8 chr19 48715153 48715153 T C het . 16 +intronic CARD8 chr19 48715269 48715269 T C het . 8 +intronic CARD8 chr19 48719199 48719199 C A het . 2 +intronic CARD8 chr19 48720160 48720160 C T het . 7 +intronic CARD8 chr19 48722326 48722326 C A het . 11 +intronic CARD8 chr19 48734018 48734018 G A het . 11 +intronic CARD8 chr19 48735287 48735287 A G het . 5 +intronic CARD8 chr19 48744345 48744345 T C het . 14 +intergenic CARD8-AS1(dist=2106),ZNF114(dist=9800) chr19 48763556 48763556 G A het . 2 +intergenic CARD8-AS1(dist=6643),ZNF114(dist=5263) chr19 48768093 48768093 T C het . 2 +intergenic CARD8-AS1(dist=6764),ZNF114(dist=5142) chr19 48768214 48768214 G A het . 2 +upstream ZNF114(dist=148) chr19 48773208 48773208 T G het . 2 +intronic ZNF114 chr19 48773874 48773874 G C het . 4 +intronic ZNF114 chr19 48774019 48774022 AGAA - het . 2 +intronic ZNF114 chr19 48783243 48783243 C T het . 3 +exonic ZNF114 chr19 48789542 48789542 C A het . 22 +intergenic ZNF114(dist=7590),CCDC114(dist=1254) chr19 48798455 48798455 T A het . 2 +exonic CCDC114 chr19 48800338 48800338 A G het . 10 +intronic CCDC114 chr19 48801414 48801414 G T het . 10 +intronic CCDC114 chr19 48801426 48801426 T C het . 10 +intronic CCDC114 chr19 48803482 48803482 C A het . 2 +exonic CCDC114 chr19 48806977 48806977 G A het . 5 +exonic CCDC114 chr19 48807367 48807367 C A het . 7 +intronic CCDC114 chr19 48821345 48821345 G A het . 3 +intronic CCDC114 chr19 48821843 48821843 C A het . 4 +intronic CCDC114 chr19 48823545 48823545 G A het . 6 +intronic EMP3 chr19 48830286 48830286 T A het . 6 +exonic EMP3 chr19 48833608 48833608 A G het . 9 +exonic TMEM143 chr19 48836673 48836673 G T het . 6 +exonic TMEM143 chr19 48863386 48863386 C T het . 10 +exonic SYNGR4 chr19 48878955 48878955 G T het . 16 +intronic KDELR1 chr19 48893675 48893675 C T het . 6 +intronic KDELR1 chr19 48893803 48893804 AG - het . 6 +intronic GRIN2D chr19 48922773 48922773 T - het . 5 +intronic GRIN2D chr19 48924763 48924763 T C het . 3 +intronic GRIN2D chr19 48924779 48924779 G A het . 2 +intronic GRIN2D chr19 48930645 48930645 - T het . 5 +exonic GRIN2D chr19 48945880 48945880 T C het . 4 +exonic GRWD1 chr19 48949286 48949286 G T het . 9 +intronic GRWD1 chr19 48949766 48949766 C G het . 9 +intronic GRWD1 chr19 48952512 48952512 G A het . 2 +intronic GRWD1 chr19 48952540 48952540 G A het . 2 +intronic GRWD1 chr19 48954571 48954571 A T het . 4 +exonic KCNJ14 chr19 48967512 48967512 C T het . 16 +UTR3 CYTH2(NM_004228:c.*2268_*2269insT,NM_017457:c.*2268_*2269insT) chr19 48984735 48984735 - T het . 5 +exonic LMTK3 chr19 49002853 49002853 A C het . 11 +intergenic LMTK3(dist=3869),SULT2B1(dist=35114) chr19 49020315 49020315 T C het . 2 +intergenic LMTK3(dist=8847),SULT2B1(dist=30136) chr19 49025293 49025293 A G het . 2 +intronic SULT2B1 chr19 49062606 49062610 TTTTG - het . 4 +intronic SULT2B1 chr19 49064805 49064805 A - het . 2 +intronic SULT2B1 chr19 49065294 49065294 A G het . 2 +intronic SULT2B1 chr19 49075161 49075161 T C het . 2 +intronic SULT2B1 chr19 49075631 49075631 A G het . 3 +intronic SULT2B1 chr19 49075645 49075645 C A het . 3 +intronic SULT2B1 chr19 49075694 49075694 C G het . 2 +intronic SULT2B1 chr19 49075811 49075811 C G het . 2 +intronic SULT2B1 chr19 49077057 49077057 G A het . 1 +intronic SULT2B1 chr19 49081309 49081309 A - het . 2 +intronic SULT2B1 chr19 49082850 49082850 - TTTCTTTC het . 2 +exonic SULT2B1 chr19 49096065 49096065 C T het . 9 +exonic SULT2B1 chr19 49102399 49102399 C T het . 4 +intronic FAM83E chr19 49114479 49114479 T G het . 2 +exonic FAM83E chr19 49116359 49116359 T C het . 11 +exonic FAM83E chr19 49116438 49116438 A G het . 19 +exonic FAM83E chr19 49116555 49116555 A G het . 8 +intronic RPL18 chr19 49120434 49120434 C T het . 19 +intronic RPL18 chr19 49122245 49122245 G A het . 1 +intronic RPL18 chr19 49122248 49122248 T C het . 2 +UTR5 RPL18(NM_001270490:c.-50A>C,NM_000979:c.-50A>C) chr19 49122450 49122450 T G het . 9 +intronic SPHK2 chr19 49131764 49131764 - AG het . 8 +ncRNA_intronic SEC1P chr19 49143025 49143025 T C het . 11 +ncRNA_intronic SEC1P chr19 49148781 49148781 C T het . 7 +ncRNA_intronic SEC1P chr19 49160853 49160856 TTTC - het . 2 +exonic NTN5 chr19 49164952 49164952 A G het . 2 +ncRNA_intronic SEC1P chr19 49166875 49166875 G A het . 6 +ncRNA_intronic SEC1P chr19 49175351 49175351 C T het . 2 +ncRNA_exonic SEC1P chr19 49183705 49183705 G A het . 18 +exonic FUT2 chr19 49206603 49206603 C T het . 13 +exonic FUT2 chr19 49206726 49206726 C T het . 8 +downstream MAMSTR(dist=297) chr19 49215682 49215682 C T het . 2 +intronic MAMSTR chr19 49216926 49216926 A G het . 8 +exonic MAMSTR chr19 49217261 49217261 A G het . 7 +exonic RASIP1 chr19 49228140 49228140 C G het . 16 +exonic IZUMO1 chr19 49244219 49244220 CG AA het . 17 +intronic IZUMO1 chr19 49246866 49246866 A G het . 3 +intronic IZUMO1 chr19 49247601 49247601 C T het . 17 +intronic IZUMO1 chr19 49247693 49247693 C T het . 16 +exonic IZUMO1 chr19 49247786 49247786 G A het . 25 +intronic IZUMO1 chr19 49247900 49247900 G A het . 6 +intronic IZUMO1 chr19 49248052 49248052 C T het . 3 +intronic IZUMO1 chr19 49248640 49248640 A G het . 5 +UTR3 FUT1(NM_001329877:c.*1204G>A,NM_000148:c.*1204G>A) chr19 49252237 49252237 C T het . 2 +UTR3 FUT1(NM_001329877:c.*52G>A,NM_000148:c.*52G>A) chr19 49253389 49253389 C T het . 13 +exonic FGF21 chr19 49259529 49259529 A G het . 8 +intronic FGF21 chr19 49260101 49260101 C T het . 5 +exonic FGF21 chr19 49261267 49261267 C T het . 3 +exonic FGF21 chr19 49261368 49261368 T C het . 2 +downstream FGF21(dist=51) chr19 49261638 49261638 C T het . 2 +downstream FGF21(dist=67) chr19 49261654 49261654 T C het . 2 +intergenic FGF21(dist=14638),BCAT2(dist=22094) chr19 49276225 49276225 A G het . 4 +intergenic FGF21(dist=23342),BCAT2(dist=13390) chr19 49284929 49284929 C G het . 2 +intergenic FGF21(dist=24671),BCAT2(dist=12061) chr19 49286258 49286258 A G het . 2 +intergenic FGF21(dist=33612),BCAT2(dist=3120) chr19 49295199 49295199 A C het . 2 +exonic BCAT2 chr19 49309776 49309776 G C het . 12 +intronic HSD17B14 chr19 49336015 49336015 T - het . 20 +UTR5 HSD17B14(NM_016246:c.-42A>G) chr19 49339710 49339710 T C het . 8 +intronic PLEKHA4 chr19 49364451 49364451 A T het . 3 +exonic PLEKHA4 chr19 49364918 49364918 C T het . 14 +exonic PPP1R15A chr19 49376584 49376584 G A het . 4 +ncRNA_intronic NUCB1-AS1 chr19 49416456 49416456 G A het . 5 +ncRNA_intronic NUCB1-AS1 chr19 49416555 49416555 A - het . 3 +ncRNA_intronic NUCB1-AS1 chr19 49420313 49420313 T C het . 2 +ncRNA_intronic NUCB1-AS1 chr19 49421903 49421903 A G het . 4 +ncRNA_exonic NUCB1-AS1 chr19 49421966 49421966 T C het . 14 +intronic NUCB1 chr19 49422432 49422432 C T het . 12 +intronic NUCB1 chr19 49424354 49424354 C T het . 3 +intronic NUCB1 chr19 49424925 49424925 C T het . 4 +UTR3 NUCB1(NM_006184:c.*91T>C) chr19 49425772 49425772 T C het . 3 +UTR3 NUCB1(NM_006184:c.*418G>A) chr19 49426099 49426099 G A het . 2 +UTR3 NUCB1(NM_006184:c.*421C>A) chr19 49426102 49426102 C A het . 1 +upstream DHDH(dist=13) chr19 49436926 49436926 A C het . 11 +exonic DHDH chr19 49436980 49436980 T A het . 25 +exonic DHDH chr19 49442735 49442735 C T het . 7 +exonic DHDH chr19 49442933 49442933 T C het . 10 +exonic DHDH chr19 49445817 49445817 T C het . 3 +UTR3 DHDH(NM_014475:c.*7C>T) chr19 49448197 49448197 C T het . 9 +intronic BAX chr19 49459104 49459104 A G het . 2 +intronic BAX chr19 49463446 49463446 T - het . 9 +exonic FTL chr19 49469087 49469087 T C het . 22 +downstream GYS1(dist=52) chr19 49471330 49471330 T C het . 2 +intronic GYS1 chr19 49474027 49474027 A T het . 14 +intronic GYS1 chr19 49480330 49480330 G A het . 2 +exonic GYS1 chr19 49485548 49485548 G A het . 34 +intronic GYS1 chr19 49485758 49485758 C T het . 4 +intronic RUVBL2 chr19 49502525 49502525 G A het . 12 +intronic RUVBL2 chr19 49513349 49513349 C G het . 8 +intronic RUVBL2 chr19 49518484 49518484 C T het . 2 +intronic RUVBL2 chr19 49519058 49519058 T C het . 3 +UTR3 RUVBL2(NM_001321191:c.*131T>G,NM_001321190:c.*131T>G,NM_006666:c.*131T>G) chr19 49519230 49519230 T G het . 5 +exonic LHB chr19 49519466 49519466 A G het . 29 +upstream LHB(dist=25) chr19 49520372 49520372 A T het . 7 +intronic CGB3 chr19 49527128 49527128 C A het . 2 +intronic CGB3 chr19 49527141 49527141 T G het . 3 +upstream CGB3(dist=828) chr19 49528460 49528462 TAT - het . 2 +intergenic CGB3(dist=1305),SNAR-G2(dist=5989) chr19 49528937 49528937 T C het . 5 +UTR5 CGB1(NM_033377:c.-125T>G) chr19 49540093 49540093 A C het . 5 +intergenic CGB5(dist=1258),CGB8(dist=1069) chr19 49549826 49549826 - TTTG het . 2 +upstream CGB7(dist=521) chr19 49559518 49559518 C G het . 9 +upstream CGB7(dist=696) chr19 49559693 49559693 T C het . 18 +intergenic CGB7(dist=1464),NTF4(dist=3936) chr19 49560461 49560461 G A het . 6 +exonic KCNA7 chr19 49573438 49573438 A G het . 16 +exonic KCNA7 chr19 49574125 49574125 G C het . 7 +intergenic KCNA7(dist=2581),SNRNP70(dist=9618) chr19 49578779 49578779 C T het . 2 +UTR5 SNRNP70(NM_001301069:c.-926C>T,NM_003089:c.-926C>T) chr19 49588746 49588746 C T het . 10 +exonic C19orf73 chr19 49621942 49621942 G A het . 6 +exonic C19orf73 chr19 49621964 49621964 T C het . 5 +intronic PPFIA3 chr19 49629738 49629738 C G het . 3 +intronic PPFIA3 chr19 49632079 49632079 C A het . 2 +intronic PPFIA3 chr19 49632772 49632772 C T het . 1 +intronic PPFIA3 chr19 49636633 49636633 G C het . 7 +intronic PPFIA3 chr19 49643404 49643404 T C het . 10 +intronic PPFIA3 chr19 49644593 49644593 C T het . 7 +intronic PPFIA3 chr19 49646006 49646006 A G het . 3 +intronic PPFIA3 chr19 49647618 49647618 T A het . 3 +intronic PPFIA3 chr19 49648064 49648064 A G het . 2 +intronic PPFIA3 chr19 49651042 49651042 C A het . 2 +intronic PPFIA3 chr19 49651790 49651790 G A het . 2 +intronic PPFIA3 chr19 49652087 49652087 G C het . 8 +intronic PPFIA3 chr19 49652129 49652129 T - het . 4 +intronic PPFIA3 chr19 49652130 49652130 G A het . 4 +exonic PPFIA3 chr19 49653347 49653347 T G het . 18 +splicing PPFIA3(NM_003660:exon29:c.3598+2T>G,NM_003660:exon29:UTR3) chr19 49653410 49653410 T G het . 9 +intronic HRC chr19 49655174 49655174 A T het . 12 +exonic HRC chr19 49657889 49657889 - TCC het . 10 +exonic HRC chr19 49658209 49658209 A C het . 23 +exonic HRC chr19 49658367 49658367 C T het . 25 +exonic HRC chr19 49658390 49658390 T C het . 22 +upstream TRPM4(dist=109) chr19 49660889 49660889 A G het . 3 +upstream TRPM4(dist=103) chr19 49660895 49660895 G T het . 2 +UTR5 TRPM4(NM_001321283:c.-10479G>A,NM_001321282:c.-25223G>A,NM_001321281:c.-12G>A,NM_001321285:c.-13555G>A,NM_017636:c.-12G>A,NM_001195227:c.-12G>A) chr19 49661112 49661112 G A het . 19 +intronic TRPM4 chr19 49661582 49661582 T C het . 8 +intronic TRPM4 chr19 49667588 49667588 T C het . 4 +intronic TRPM4 chr19 49671442 49671442 - GT het . 5 +intronic TRPM4 chr19 49691822 49691822 T C het . 15 +intronic TRPM4 chr19 49692373 49692373 C G het . 18 +intronic TRPM4 chr19 49700205 49700205 A G het . 4 +intronic TRPM4 chr19 49703401 49703401 T C het . 4 +intronic TRPM4 chr19 49705117 49705117 A - het . 8 +intergenic TRPM4(dist=63776),SLC6A16(dist=14018) chr19 49778874 49778874 T G het . 7 +intergenic TRPM4(dist=75937),SLC6A16(dist=1857) chr19 49791035 49791035 C T het . 2 +intergenic TRPM4(dist=75945),SLC6A16(dist=1849) chr19 49791043 49791043 T G het . 1 +intronic SLC6A16 chr19 49794028 49794028 G T het . 10 +exonic SLC6A16 chr19 49812952 49812952 G C het . 19 +intronic SLC6A16 chr19 49818799 49818799 C T het . 2 +intronic SLC6A16 chr19 49823244 49823244 T G het . 2 +intronic SLC6A16 chr19 49823259 49823259 G A het . 2 +intronic CD37 chr19 49838891 49838891 C A het . 22 +exonic CD37 chr19 49839015 49839015 T C het . 26 +intronic CD37 chr19 49841054 49841054 G T het . 7 +intronic TEAD2 chr19 49845895 49845895 C T het . 6 +exonic DKKL1 chr19 49869051 49869051 T G het . 8 +intronic DKKL1 chr19 49869298 49869298 C T het . 2 +exonic DKKL1 chr19 49878115 49878115 G A het . 8 +exonic DKKL1 chr19 49878196 49878196 G A het . 5 +exonic CCDC155 chr19 49894152 49894152 C T het . 2 +intronic CCDC155 chr19 49894217 49894217 G T het . 2 +exonic CCDC155 chr19 49899076 49899076 G A het . 12 +intronic CCDC155 chr19 49900877 49900877 A G het . 5 +exonic CCDC155 chr19 49901318 49901318 T C het . 5 +downstream PTH2(dist=463) chr19 49925208 49925208 A C het . 4 +downstream PTH2(dist=4) chr19 49925667 49925667 T G het . 5 +exonic GFY chr19 49930721 49930721 T C het . 7 +intronic SLC17A7 chr19 49935040 49935043 TTTT - het . 3 +intronic SLC17A7 chr19 49940131 49940131 G C het . 3 +UTR5 SLC17A7(NM_020309:c.-95delT) chr19 49944731 49944731 A - het . 2 +exonic PIH1D1 chr19 49949652 49949652 G A het . 19 +exonic PIH1D1 chr19 49950298 49950298 C T het . 5 +exonic PIH1D1 chr19 49950356 49950356 C G het . 6 +exonic PIH1D1 chr19 49954803 49954803 C T het . 17 +exonic PIH1D1 chr19 49954807 49954807 T G het . 15 +intronic ALDH16A1 chr19 49963987 49963988 CC TT het . 3 +intronic ALDH16A1 chr19 49964833 49964833 T C het . 2 +exonic ALDH16A1 chr19 49964977 49964977 C G het . 9 +intronic ALDH16A1 chr19 49967808 49967808 C T het . 10 +exonic ALDH16A1 chr19 49967981 49967981 T G het . 18 +exonic ALDH16A1 chr19 49969085 49969085 C T het . 15 +upstream FLT3LG(dist=248) chr19 49977218 49977218 T C het . 2 +exonic RPL13A chr19 49993535 49993535 C G het . 10 +UTR5 RPS11(NM_001015:c.-91C>T) chr19 49999623 49999623 C T het . 10 +exonic NOSIP chr19 50060384 50060384 G A het . 14 +intronic PRR12 chr19 50118614 50118614 C A het . 2 +intronic PRR12 chr19 50121022 50121022 C T het . 2 +intronic RRAS chr19 50140062 50140062 C A het . 14 +intronic RRAS chr19 50140068 50140068 C T het . 16 +exonic RRAS chr19 50140092 50140092 G A het . 16 +intronic SCAF1 chr19 50149269 50149269 G A het . 4 +exonic SCAF1 chr19 50154408 50154408 C T het . 20 +exonic SCAF1 chr19 50154904 50154904 A C het . 2 +exonic SCAF1 chr19 50156896 50156896 T C het . 6 +exonic IRF3 chr19 50162909 50162909 C G het . 7 +intronic PRMT1 chr19 50187079 50187079 A G het . 5 +intronic CPT1C chr19 50206081 50206081 G C het . 2 +exonic CPT1C chr19 50216050 50216050 C A het . 20 +intronic CPT1C chr19 50216118 50216118 - G het . 11 +intronic TSKS chr19 50250872 50250872 G A het . 2 +exonic TSKS chr19 50251422 50251422 C T het . 9 +intronic AP2A1 chr19 50304336 50304336 A G het . 8 +intronic AP2A1 chr19 50305688 50305688 G C het . 31 +intronic AP2A1 chr19 50308893 50308893 T C het . 5 +intronic FUZ chr19 50314459 50314459 A - het . 20 +intronic FUZ chr19 50315423 50315423 G A het . 10 +intronic FUZ chr19 50315698 50315698 A C het . 12 +intronic FUZ chr19 50315773 50315773 T A het . 9 +intronic FUZ chr19 50316083 50316083 C T het . 7 +intronic MED25 chr19 50321981 50321981 G C het . 2 +intronic MED25 chr19 50331679 50331679 T - het . 6 +ncRNA_intronic PTOV1-AS1 chr19 50354132 50354132 C A het . 18 +exonic PTOV1 chr19 50354184 50354184 T G het . 29 +intronic PNKP chr19 50368361 50368361 T A het . 15 +exonic TBC1D17 chr19 50383591 50383591 A G het . 10 +exonic TBC1D17 chr19 50383636 50383636 T C het . 3 +intronic TBC1D17 chr19 50386340 50386340 T C het . 2 +exonic TBC1D17 chr19 50387729 50387729 C T het . 11 +intronic TBC1D17 chr19 50390412 50390412 - A het . 2 +exonic NUP62 chr19 50411742 50411742 A G het . 26 +exonic NUP62 chr19 50412217 50412217 C G het . 3 +exonic NUP62 chr19 50412417 50412417 G A het . 22 +exonic ATF5 chr19 50435747 50435747 T C het . 6 +exonic ATF5 chr19 50435862 50435862 C T het . 6 +exonic ATF5 chr19 50435998 50435998 C T het . 7 +intergenic ATF5(dist=12247),SIGLEC11(dist=2810) chr19 50449440 50449440 T C het . 2 +intronic SIGLEC16 chr19 50475017 50475017 G A het . 9 +intronic SIGLEC16 chr19 50475075 50475077 GTC AAT het . 6 +exonic SIGLEC16 chr19 50475114 50475114 G C het . 3 +exonic SIGLEC16 chr19 50475259 50475259 G C het . 23 +intronic SIGLEC16 chr19 50475458 50475458 T A het . 3 +intronic SIGLEC16 chr19 50475466 50475466 G A het . 3 +intronic SIGLEC16 chr19 50476426 50476426 C T het . 6 +intronic SIGLEC16 chr19 50476467 50476467 A G het . 5 +intronic SIGLEC16 chr19 50476478 50476478 A G het . 6 +intronic VRK3 chr19 50493120 50493120 T C het . 4 +intronic VRK3 chr19 50493131 50493131 G A het . 4 +intronic VRK3 chr19 50496281 50496281 - AC het . 7 +intronic VRK3 chr19 50498330 50498330 C A het . 4 +intronic VRK3 chr19 50500922 50500922 C A het . 5 +intronic VRK3 chr19 50511108 50511108 T C het . 5 +intronic VRK3 chr19 50511156 50511156 C T het . 5 +intronic VRK3 chr19 50519231 50519231 T C het . 9 +intronic VRK3 chr19 50519249 50519249 C T het . 10 +intronic ZNF473 chr19 50542359 50542359 G A het . 3 +ncRNA_intronic LOC400710 chr19 50562459 50562459 T G het . 4 +upstream SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9(dist=687) chr19 50627138 50627138 A C het . 11 +intronic IZUMO2 chr19 50657787 50657787 G - het . 3 +intronic IZUMO2 chr19 50662726 50662726 G C het . 10 +UTR5 IZUMO2(NM_001321449:c.-60G>T,NM_152358:c.-60G>T) chr19 50666511 50666511 C A het . 7 +intronic MYH14 chr19 50713591 50713591 A C het . 4 +intronic MYH14 chr19 50720126 50720126 G A het . 2 +intronic MYH14 chr19 50720793 50720793 C T het . 5 +intronic MYH14 chr19 50720795 50720795 G A het . 6 +intronic MYH14 chr19 50721854 50721854 - A het . 3 +intronic MYH14 chr19 50723170 50723170 A G het . 2 +intronic MYH14 chr19 50723489 50723489 A G het . 2 +intronic MYH14 chr19 50726319 50726319 C G het . 13 +intronic MYH14 chr19 50726459 50726459 T C het . 17 +exonic MYH14 chr19 50726570 50726570 G A het . 15 +intronic MYH14 chr19 50727510 50727510 T C het . 14 +intronic MYH14 chr19 50727668 50727668 A G het . 2 +intronic MYH14 chr19 50728955 50728955 G A het . 12 +intronic MYH14 chr19 50731947 50731947 A G het . 2 +intronic MYH14 chr19 50741795 50741795 A G het . 4 +intronic MYH14 chr19 50743604 50743604 G A het . 2 +intronic MYH14 chr19 50749143 50749143 C A het . 2 +intronic MYH14 chr19 50750419 50750419 C T het . 8 +intronic MYH14 chr19 50751361 50751361 G A het . 1 +exonic MYH14 chr19 50762418 50762418 A G het . 5 +intronic MYH14 chr19 50763886 50763886 C T het . 10 +intronic MYH14 chr19 50763889 50763889 C T het . 10 +intronic MYH14 chr19 50766707 50766707 T C het . 2 +intronic MYH14 chr19 50770044 50770044 G A het . 5 +intronic MYH14 chr19 50771409 50771409 A C het . 5 +exonic MYH14 chr19 50771609 50771609 G A het . 16 +intronic MYH14 chr19 50771635 50771635 T C het . 7 +intronic MYH14 chr19 50774581 50774581 G A het . 3 +intronic MYH14 chr19 50775742 50775742 A G het . 9 +intronic MYH14 chr19 50779500 50779500 A G het . 2 +intronic MYH14 chr19 50779898 50779898 A - het . 12 +intronic MYH14 chr19 50779988 50779988 A T het . 10 +exonic MYH14 chr19 50796905 50796905 G A het . 3 +intronic MYH14 chr19 50796960 50796960 C T het . 3 +intronic MYH14 chr19 50802051 50802051 C G het . 2 +intronic MYH14 chr19 50805138 50805138 C T het . 9 +intronic MYH14 chr19 50812221 50812221 A G het . 3 +intergenic NAPSB(dist=9802),NAPSA(dist=3922) chr19 50857807 50857807 C T het . 2 +intergenic NAPSB(dist=9818),NAPSA(dist=3906) chr19 50857823 50857823 C T het . 2 +exonic NAPSA chr19 50862768 50862768 C T het . 7 +intronic NR1H2 chr19 50880741 50880741 T C het . 2 +exonic NR1H2 chr19 50881820 50881820 - AAC het . 7 +exonic POLD1 chr19 50909765 50909765 C T het . 9 +intronic SPIB chr19 50931222 50931222 C T het . 2 +intronic MYBPC2 chr19 50938385 50938385 C A het . 6 +intronic MYBPC2 chr19 50945411 50945411 A G het . 7 +intronic MYBPC2 chr19 50962158 50962158 T G het . 6 +intronic MYBPC2 chr19 50963246 50963246 G C het . 16 +intronic MYBPC2 chr19 50963265 50963265 T C het . 18 +intronic MYBPC2 chr19 50965131 50965131 C T het . 5 +exonic MYBPC2 chr19 50965272 50965272 T C het . 7 +intronic EMC10 chr19 50980359 50980360 AA - het . 2 +UTR3 EMC10(NM_175063:c.*868T>G,NM_206538:c.*757T>G) chr19 50986273 50986273 T G het . 6 +UTR3 EMC10(NM_175063:c.*871A>C,NM_206538:c.*760A>C) chr19 50986276 50986276 A C het . 6 +UTR5 ASPDH(NM_001024656:c.-69C>T) chr19 51017835 51017835 G A het . 9 +intergenic LRRC4B(dist=16850),SNAR-F(dist=20068) chr19 51088152 51088152 A G het . 2 +intergenic LRRC4B(dist=19755),SNAR-F(dist=17163) chr19 51091057 51091057 - T het . 2 +intergenic LRRC4B(dist=34846),SNAR-F(dist=2072) chr19 51106148 51106148 G T het . 2 +upstream SNAR-F(dist=359) chr19 51107861 51107861 G C het . 2 +exonic SYT3 chr19 51128661 51128661 T C het . 4 +exonic C19orf81 chr19 51159571 51159571 T G het . 10 +exonic SHANK1 chr19 51170706 51170706 A G het . 3 +exonic SHANK1 chr19 51171251 51171251 A C het . 3 +intronic SHANK1 chr19 51180988 51180988 C T het . 2 +intronic SHANK1 chr19 51181305 51181305 T G het . 1 +intronic SHANK1 chr19 51185351 51185351 C T het . 2 +intronic SHANK1 chr19 51200466 51200466 G A het . 3 +intronic SHANK1 chr19 51207508 51207508 C T het . 6 +intronic SHANK1 chr19 51207775 51207775 C T het . 8 +intronic SHANK1 chr19 51210451 51210451 A G het . 3 +intronic SHANK1 chr19 51217550 51217550 G A het . 8 +intergenic CLEC11A(dist=25061),GPR32(dist=19679) chr19 51254042 51254042 C T het . 2 +intronic ACP4 chr19 51294003 51294003 T G het . 3 +exonic ACP4 chr19 51297825 51297826 GC AA het . 15 +UTR5 C19orf48(NM_032712:c.-449C>T,NM_001290155:c.-449C>T,NM_001290154:c.-449C>T,NM_199250:c.-449C>T,NM_199249:c.-449C>T,NM_001290153:c.-449C>T,NM_001290152:c.-449C>T,NM_001290151:c.-449C>T,NM_001290150:c.-449C>T,NM_001290149:c.-449C>T) chr19 51302154 51302154 G A het . 2 +UTR5 C19orf48(NM_001290154:c.-4115G>T,NM_199249:c.-4115G>T,NM_001290153:c.-4115G>T,NM_001290149:c.-4115G>T) chr19 51305820 51305820 C A het . 3 +upstream LINC01869(dist=738) chr19 51320199 51320199 A G het . 2 +ncRNA_exonic LINC01869 chr19 51321813 51321813 A G het . 3 +exonic KLK1 chr19 51323473 51323473 C G het . 2 +exonic KLK1 chr19 51323501 51323501 A G het . 9 +intronic KLK15 chr19 51331199 51331199 - T het . 2 +intronic KLK15 chr19 51331205 51331205 - T het . 2 +ncRNA_intronic LOC105372441 chr19 51342752 51342752 C A het . 2 +ncRNA_intronic LOC105372441 chr19 51346849 51346849 T - het . 2 +ncRNA_intronic LOC105372441 chr19 51349716 51349716 T C het . 3 +ncRNA_intronic LOC105372441 chr19 51353027 51353027 A T het . 2 +upstream KLK3(dist=158) chr19 51358013 51358013 G A het . 2 +exonic KLK3 chr19 51359497 51359497 T C het . 3 +exonic KLK3 chr19 51359503 51359503 A G het . 3 +intronic KLK3 chr19 51360818 51360818 C T het . 2 +intronic KLK3 chr19 51361644 51361644 A G het . 4 +UTR3 KLK3(NM_001648:c.*15C>T,NM_001030048:c.*15C>T,NM_001030047:c.*526C>T) chr19 51363398 51363398 C T het . 4 +exonic KLK2 chr19 51379893 51379893 C T het . 25 +downstream KLKP1(dist=77) chr19 51385275 51385275 - T het . 2 +exonic KLK4 chr19 51410284 51410284 C A het . 32 +intronic KLK4 chr19 51410772 51410772 T C het . 2 +exonic KLK4 chr19 51411636 51411636 G T het . 22 +exonic KLK4 chr19 51412666 51412666 C A het . 20 +intergenic KLK4(dist=16442),KLK5(dist=16123) chr19 51430436 51430436 C T het . 19 +intergenic KLK4(dist=16874),KLK5(dist=15691) chr19 51430868 51430868 G A het . 6 +intronic KLK5 chr19 51447065 51447065 T C het . 4 +intronic KLK5 chr19 51451046 51451046 C T het . 2 +exonic KLK5 chr19 51452250 51452250 T C het . 22 +intronic KLK7 chr19 51482969 51482969 C T het . 2 +intronic KLK7 chr19 51484984 51484984 C T het . 3 +intronic KLK7 chr19 51484990 51484990 T C het . 3 +intronic KLK7 chr19 51485013 51485013 C T het . 3 +intronic KLK7 chr19 51485194 51485194 C T het . 5 +exonic KLK7 chr19 51485622 51485622 A G het . 11 +UTR5 KLK7(NM_139277:c.-1412A>G) chr19 51487067 51487067 T C het . 6 +exonic KLK7 chr19 51487175 51487175 T G het . 18 +intergenic KLK7(dist=3709),KLK8(dist=8235) chr19 51491029 51491029 G A het . 2 +intronic KLK8 chr19 51499912 51499912 T C het . 2 +exonic KLK9 chr19 51507020 51507020 T G het . 7 +downstream KLK10(dist=855) chr19 51515145 51515145 A T het . 2 +UTR3 KLK10(NM_001077500:c.*2041A>G,NM_145888:c.*2041A>G,NM_002776:c.*2041A>G) chr19 51516015 51516015 T C het . 3 +UTR3 KLK10(NM_001077500:c.*2030delT,NM_145888:c.*2030delT,NM_002776:c.*2030delT) chr19 51516026 51516026 A - het . 3 +UTR3 KLK10(NM_001077500:c.*865A>G,NM_145888:c.*865A>G,NM_002776:c.*865A>G) chr19 51517191 51517191 T C het . 3 +UTR3 KLK10(NM_001077500:c.*325T>C,NM_145888:c.*325T>C,NM_002776:c.*325T>C) chr19 51517731 51517731 A G het . 2 +intronic KLK10 chr19 51518222 51518222 G A het . 3 +exonic KLK10 chr19 51519236 51519236 A G het . 15 +exonic KLK10 chr19 51519259 51519259 C T het . 17 +exonic KLK10 chr19 51519346 51519346 G C het . 11 +exonic KLK10 chr19 51519364 51519364 T G het . 8 +exonic KLK10 chr19 51520487 51520487 A C het . 13 +intronic KLK10 chr19 51522286 51522286 C T het . 8 +intronic KLK10 chr19 51522291 51522291 G C het . 8 +intronic KLK11 chr19 51530693 51530693 G A het . 9 +exonic KLK11 chr19 51530741 51530741 C G het . 12 +UTR3 KLK12(NM_145894:c.*19A>C,NM_145895:c.*170A>C) chr19 51532539 51532539 T G het . 21 +intronic KLK12 chr19 51534020 51534020 C T het . 18 +splicing KLK12(NM_019598:exon4:c.457+2T>C,NM_145894:exon4:c.457+2T>C) chr19 51535130 51535130 A G het . 5 +intronic KLK12 chr19 51535460 51535460 - CC het . 4 +intronic KLK12 chr19 51537903 51537903 - A het . 13 +intergenic KLK12(dist=16255),KLK13(dist=4480) chr19 51554403 51554403 - A het . 3 +intronic KLK13 chr19 51566873 51566873 G A het . 4 +intronic KLK14 chr19 51582994 51582994 G T het . 5 +intronic KLK14 chr19 51583003 51583003 A G het . 7 +exonic KLK14 chr19 51584916 51584916 G A het . 8 +exonic KLK14 chr19 51584951 51584951 T C het . 2 +exonic CTU1 chr19 51602298 51602298 C G het . 13 +exonic SIGLEC9 chr19 51628529 51628529 A G het . 13 +exonic SIGLEC9 chr19 51630482 51630482 C A het . 11 +intronic SIGLEC9 chr19 51636931 51636931 C T het . 2 +exonic SIGLEC7 chr19 51656454 51656454 A T het . 6 +ncRNA_intronic LOC101928517,SIGLEC17P chr19 51672195 51672195 T C het . 2 +intergenic LOC101928517(dist=4946),MIR8074(dist=20017) chr19 51690168 51690168 T A het . 2 +intergenic LOC101928517(dist=8268),MIR8074(dist=16695) chr19 51693490 51693490 G A het . 2 +intergenic LOC101928517(dist=8878),MIR8074(dist=16085) chr19 51694100 51694100 A G het . 6 +intergenic LOC101928517(dist=11250),MIR8074(dist=13713) chr19 51696472 51696472 A G het . 2 +intergenic LOC101928517(dist=16527),MIR8074(dist=8436) chr19 51701749 51701749 T G het . 2 +intergenic MIR8074(dist=16090),CD33(dist=1980) chr19 51726355 51726355 G C het . 2 +exonic CD33 chr19 51728641 51728641 A G het . 9 +intronic SIGLECL1 chr19 51766397 51766397 T G het . 2 +intronic SIGLECL1 chr19 51766417 51766417 A G het . 2 +intronic IGLON5 chr19 51828487 51828487 T C het . 2 +intronic IGLON5 chr19 51829097 51829098 CT - het . 2 +exonic VSIG10L chr19 51835892 51835892 - G het . 7 +exonic VSIG10L chr19 51837171 51837171 A G het . 9 +intronic VSIG10L chr19 51837213 51837213 A G het . 6 +intronic VSIG10L chr19 51837332 51837332 A G het . 5 +exonic VSIG10L chr19 51843808 51843808 C T het . 22 +exonic VSIG10L chr19 51844978 51844978 G T het . 26 +exonic VSIG10L chr19 51845371 51845371 T G het . 13 +exonic ETFB chr19 51850290 51850290 G A het . 14 +intronic ETFB chr19 51851642 51851642 T C het . 2 +intronic ETFB chr19 51853352 51853352 A G het . 3 +intronic ETFB chr19 51853396 51853396 G A het . 6 +intronic ETFB chr19 51853400 51853400 G T het . 6 +intronic ETFB chr19 51853468 51853468 C T het . 11 +exonic ETFB chr19 51857591 51857591 T G het . 16 +exonic ETFB chr19 51857738 51857738 G A het . 24 +intronic ETFB chr19 51869346 51869346 G A het . 2 +exonic CLDND2 chr19 51871195 51871195 G A het . 20 +intronic LIM2 chr19 51883727 51883727 G A het . 9 +intronic LIM2 chr19 51885274 51885274 A G het . 3 +exonic SIGLEC10 chr19 51920613 51920613 C T het . 11 +intergenic LOC100129083(dist=10632),SIGLEC8(dist=22169) chr19 51932082 51932082 G A het . 2 +UTR3 SIGLEC8(NM_014442:c.*1T>A,NM_001363548:c.*1T>A) chr19 51955632 51955632 A T het . 10 +exonic SIGLEC8 chr19 51957556 51957556 T C het . 4 +intergenic SIGLEC8(dist=18312),CEACAM18(dist=1877) chr19 51980020 51980020 C T het . 5 +upstream CEACAM18(dist=144) chr19 51981753 51981753 G C het . 5 +exonic CEACAM18 chr19 51984725 51984725 T A het . 16 +UTR3 SIGLEC12(NM_033329:c.*82C>A,NM_053003:c.*82C>A) chr19 51994813 51994813 G T het . 3 +UTR3 SIGLEC12(NM_033329:c.*44G>C,NM_053003:c.*44G>C) chr19 51994851 51994851 C G het . 4 +intronic SIGLEC12 chr19 51997249 51997249 G A het . 1 +intronic SIGLEC12 chr19 51997253 51997253 T C het . 1 +exonic SIGLEC12 chr19 52000151 52000151 T A het . 10 +exonic SIGLEC12 chr19 52000624 52000624 T G het . 14 +exonic SIGLEC12 chr19 52000672 52000672 G A het . 14 +intronic SIGLEC12 chr19 52002488 52002488 C A het . 18 +exonic SIGLEC12 chr19 52003331 52003331 G C het . 12 +exonic SIGLEC12 chr19 52004743 52004743 G A het . 20 +exonic SIGLEC12 chr19 52004791 52004791 - C het . 20 +exonic SIGLEC12 chr19 52004795 52004795 G T het . 21 +intergenic SIGLEC12(dist=3487),SIGLEC6(dist=12543) chr19 52008530 52008530 G A het . 7 +intronic SIGLEC6 chr19 52025192 52025192 G T het . 2 +intronic SIGLEC6 chr19 52031162 52031162 A G het . 5 +intronic SIGLEC6 chr19 52031304 52031304 C A het . 4 +intronic SIGLEC6 chr19 52032964 52032964 C G het . 9 +exonic SIGLEC6 chr19 52033742 52033742 G A het . 10 +UTR5 SIGLEC6(NM_001177548:c.-38G>A,NM_001245:c.-38G>A,NM_001177547:c.-38G>A,NM_001177549:c.-38G>A,NM_198845:c.-38G>A,NM_198846:c.-38G>A) chr19 52034940 52034940 C T het . 4 +exonic ZNF175 chr19 52085095 52085095 G A het . 22 +intronic ZNF175 chr19 52085846 52085846 A G het . 3 +exonic ZNF175 chr19 52090014 52090014 C T het . 23 +exonic ZNF175 chr19 52090100 52090100 T C het . 21 +exonic ZNF175 chr19 52091561 52091561 G C het . 20 +ncRNA_exonic LINC01530 chr19 52097401 52097401 T C het . 14 +intergenic LINC01530(dist=2692),SIGLEC5(dist=14431) chr19 52100325 52100325 T C het . 1 +intergenic LINC01530(dist=6856),SIGLEC5(dist=10267) chr19 52104489 52104489 C G het . 15 +intergenic LINC01530(dist=6927),SIGLEC5(dist=10196) chr19 52104560 52104560 T C het . 9 +intergenic LINC01530(dist=7080),SIGLEC5(dist=10043) chr19 52104713 52104713 G C het . 3 +exonic SIGLEC5 chr19 52115645 52115645 G C het . 7 +intronic SIGLEC5 chr19 52117711 52117711 G A het . 2 +intronic SIGLEC5 chr19 52128218 52128218 A - het . 2 +exonic SIGLEC5 chr19 52130830 52130830 C A het . 17 +intronic SIGLEC14 chr19 52148617 52148617 A G het . 3 +intronic SIGLEC14 chr19 52148804 52148804 A C het . 17 +intronic SIGLEC14 chr19 52148918 52148918 C G het . 2 +intergenic SIGLEC14(dist=4305),SPACA6P-AS(dist=34179) chr19 52154437 52154437 G T het . 2 +intergenic SIGLEC14(dist=5925),SPACA6P-AS(dist=32559) chr19 52156057 52156057 C T het . 2 +intergenic SIGLEC14(dist=13146),SPACA6P-AS(dist=25338) chr19 52163278 52163278 A T het . 3 +intergenic SIGLEC14(dist=21351),SPACA6P-AS(dist=17133) chr19 52171483 52171483 C T het . 2 +intergenic SIGLEC14(dist=22936),SPACA6P-AS(dist=15548) chr19 52173068 52173068 G A het . 2 +intergenic SIGLEC14(dist=28111),SPACA6P-AS(dist=10373) chr19 52178243 52178243 T C het . 3 +intergenic SIGLEC14(dist=36139),SPACA6P-AS(dist=2345) chr19 52186271 52186271 G T het . 2 +intergenic SIGLEC14(dist=36158),SPACA6P-AS(dist=2326) chr19 52186290 52186290 C T het . 1 +UTR3 HAS1(NM_001297436:c.*216C>T,NM_001523:c.*216C>T) chr19 52216464 52216464 G A het . 1 +UTR3 HAS1(NM_001297436:c.*207G>A,NM_001523:c.*207G>A) chr19 52216473 52216473 C T het . 2 +exonic HAS1 chr19 52220351 52220351 G A het . 19 +intronic HAS1 chr19 52221213 52221213 A G het . 2 +exonic HAS1 chr19 52223121 52223121 A G het . 5 +intergenic HAS1(dist=14804),FPR1(dist=6974) chr19 52242049 52242049 C G het . 2 +exonic FPR1 chr19 52249211 52249211 T G het . 11 +exonic FPR1 chr19 52249672 52249672 A C het . 23 +exonic FPR1 chr19 52250216 52250216 A G het . 14 +exonic FPR2 chr19 52272122 52272122 G A het . 26 +intronic FPR3 chr19 52301063 52301063 G A het . 2 +exonic FPR3 chr19 52327784 52327784 C T het . 30 +exonic ZNF577 chr19 52376507 52376507 T C het . 19 +exonic ZNF577 chr19 52376952 52376952 T A het . 5 +intronic ZNF577 chr19 52380681 52380681 T A het . 7 +intronic ZNF577 chr19 52381616 52381616 G A het . 5 +intronic ZNF577 chr19 52382851 52382851 T C het . 3 +intronic ZNF577 chr19 52383510 52383510 C T het . 17 +intronic ZNF577 chr19 52383556 52383556 C A het . 25 +intronic ZNF577 chr19 52383569 52383569 A C het . 29 +intronic ZNF577 chr19 52383874 52383874 A G het . 3 +intronic ZNF577 chr19 52383890 52383890 C T het . 2 +UTR5 ZNF577(NM_001135590:c.-303G>A,NM_032679:c.-303G>A) chr19 52383938 52383938 C T het . 2 +ncRNA_intronic ZNF649-AS1 chr19 52395615 52395615 A G het . 3 +ncRNA_intronic ZNF649-AS1 chr19 52399559 52399559 C T het . 3 +ncRNA_exonic ZNF649-AS1 chr19 52403395 52403395 A G het . 7 +ncRNA_exonic ZNF649-AS1 chr19 52403516 52403516 T C het . 6 +intronic ZNF613 chr19 52439580 52439581 TT - het . 12 +ncRNA_intronic ZNF350-AS1 chr19 52469543 52469543 - T het . 6 +exonic ZNF432 chr19 52537576 52537576 T G het . 22 +exonic ZNF432 chr19 52538428 52538428 A G het . 44 +exonic ZNF841 chr19 52569705 52569705 C A het . 13 +exonic ZNF841 chr19 52569708 52569708 C A het . 12 +exonic ZNF841 chr19 52570714 52570714 C G het . 20 +exonic ZNF841 chr19 52570783 52570783 A G het . 21 +intronic ZNF841 chr19 52579509 52579509 T C het . 11 +exonic ZNF836 chr19 52659282 52659282 G A het . 31 +upstream PPP2R1A(dist=330) chr19 52692725 52692725 G A het . 2 +upstream PPP2R1A(dist=326) chr19 52692729 52692729 G A het . 2 +upstream ZNF766(dist=56) chr19 52772768 52772768 T C het . 9 +intronic ZNF766 chr19 52781998 52781998 C T het . 2 +exonic ZNF766 chr19 52793857 52793857 C A het . 28 +UTR3 ZNF766(NM_001010851:c.*707C>T) chr19 52795158 52795158 C T het . 2 +intronic ZNF480 chr19 52800516 52800516 C A het . 16 +exonic ZNF480 chr19 52803670 52803671 TG - het . 19 +intronic ZNF480 chr19 52820046 52820046 C T het . 2 +exonic ZNF480 chr19 52825032 52825032 C T het . 27 +exonic ZNF480 chr19 52825235 52825235 A G het . 17 +upstream ZNF610(dist=24) chr19 52839474 52839474 T C het . 4 +intronic ZNF610 chr19 52847988 52847988 T C het . 2 +intronic ZNF610 chr19 52852523 52852523 T C het . 6 +intronic ZNF610 chr19 52856703 52856703 A T het . 5 +intronic ZNF610 chr19 52856708 52856708 C G het . 5 +exonic ZNF610 chr19 52856955 52856955 C T het . 20 +intronic ZNF610 chr19 52857399 52857399 G A het . 5 +exonic ZNF610 chr19 52869022 52869022 G T het . 24 +exonic ZNF610 chr19 52869278 52869278 G C het . 27 +exonic ZNF610 chr19 52869312 52869312 T C het . 28 +exonic ZNF610 chr19 52869534 52869534 G A het . 25 +UTR3 ZNF610(NM_001161427:c.*32C>G,NM_001161426:c.*32C>G,NM_001161425:c.*32C>G,NM_173530:c.*32C>G) chr19 52870052 52870052 C G het . 4 +upstream ZNF880(dist=165) chr19 52873005 52873005 A G het . 1 +upstream ZNF880(dist=147) chr19 52873023 52873023 A G het . 2 +intronic ZNF880 chr19 52876356 52876356 C T het . 21 +intronic ZNF880 chr19 52882362 52882362 - ACTTG het . 2 +intronic ZNF880 chr19 52882520 52882520 T C het . 6 +intronic ZNF880 chr19 52882656 52882656 T - het . 16 +intronic ZNF880 chr19 52882733 52882733 T C het . 20 +intronic ZNF880 chr19 52885355 52885355 C T het . 2 +exonic ZNF880 chr19 52887146 52887146 A - het . 15 +exonic ZNF880 chr19 52887246 52887246 - CAA het . 39 +exonic ZNF880 chr19 52887427 52887427 A C het . 26 +exonic ZNF880 chr19 52887437 52887437 A C het . 24 +exonic ZNF880 chr19 52887904 52887904 T C het . 18 +exonic ZNF880 chr19 52888210 52888210 T C het . 21 +exonic ZNF880 chr19 52888245 52888245 A G het . 27 +UTR3 ZNF880(NM_001145434:c.*53T>G) chr19 52888620 52888620 T G het . 5 +intronic ZNF528 chr19 52904916 52904916 T - het . 10 +intronic ZNF528 chr19 52905067 52905067 A C het . 14 +intronic ZNF528 chr19 52905496 52905496 G C het . 6 +intronic ZNF528 chr19 52909303 52909303 C T het . 1 +intronic ZNF528 chr19 52916988 52916988 T G het . 2 +intronic ZNF528 chr19 52917590 52917590 G A het . 4 +intronic ZNF528 chr19 52917626 52917626 A G het . 6 +intronic ZNF528 chr19 52918314 52918314 - TT het . 11 +exonic ZNF528 chr19 52919433 52919433 G C het . 21 +UTR3 ZNF528(NM_032423:c.*14_*15insTG) chr19 52920006 52920006 - TG het . 5 +intergenic ZNF528(dist=7598),ZNF534(dist=2969) chr19 52929255 52929255 C A het . 6 +exonic ZNF534 chr19 52934741 52934741 A C het . 12 +intronic ZNF534 chr19 52934751 52934751 A G het . 10 +exonic ZNF534 chr19 52938361 52938361 C A het . 11 +exonic ZNF534 chr19 52938417 52938417 A G het . 13 +exonic ZNF534 chr19 52938459 52938459 A G het . 5 +intronic ZNF534 chr19 52940149 52940149 G A het . 3 +intronic ZNF534 chr19 52940845 52940845 A G het . 3 +intronic ZNF534 chr19 52940931 52940931 A T het . 5 +exonic ZNF534 chr19 52941171 52941171 T C het . 10 +exonic ZNF534 chr19 52941540 52941540 G A het . 23 +exonic ZNF534 chr19 52941618 52941618 A C het . 14 +exonic ZNF534 chr19 52941847 52941847 A T het . 10 +exonic ZNF534 chr19 52942159 52942159 A G het . 13 +intronic ZNF534 chr19 52948060 52948060 C A het . 2 +intronic ZNF534 chr19 52948069 52948069 T C het . 2 +intronic ZNF534 chr19 52948083 52948083 C T het . 2 +intronic ZNF534 chr19 52948100 52948100 G A het . 2 +intronic ZNF534 chr19 52949319 52949319 A G het . 2 +intronic ZNF534 chr19 52949344 52949344 T C het . 1 +intronic ZNF534 chr19 52951651 52951651 A - het . 3 +intronic ZNF534 chr19 52951662 52951662 A T het . 3 +intronic ZNF534 chr19 52951710 52951710 G C het . 2 +intronic ZNF534 chr19 52951758 52951758 A G het . 2 +intronic ZNF534 chr19 52954229 52954229 T G het . 2 +intronic ZNF534 chr19 52954350 52954350 T - het . 3 +exonic ZNF534 chr19 52954507 52954507 T C het . 18 +UTR3 ZNF534(NM_001291369:c.*187T>C,NM_001291368:c.*187T>C) chr19 52954937 52954937 T C het . 4 +intronic ZNF578 chr19 52961837 52961837 A C het . 2 +intronic ZNF578 chr19 52969762 52969762 G T het . 2 +intronic ZNF578 chr19 52971311 52971311 T C het . 3 +intronic ZNF578 chr19 52971953 52971953 G A het . 2 +intronic ZNF578 chr19 52974873 52974873 A T het . 3 +intronic ZNF578 chr19 52977313 52977313 T A het . 11 +intronic ZNF578 chr19 52977823 52977823 A G het . 6 +intronic ZNF578 chr19 52994499 52994499 G T het . 4 +intronic ZNF578 chr19 53004973 53004973 - C het . 3 +intronic ZNF578 chr19 53005007 53005007 G A het . 7 +intronic ZNF578 chr19 53008665 53008665 G T het . 2 +exonic ZNF578 chr19 53014346 53014346 G A het . 27 +UTR3 ZNF578(NM_001099694:c.*81delG) chr19 53015488 53015488 G - het . 17 +UTR3 ZNF578(NM_001099694:c.*335C>G) chr19 53015742 53015742 C G het . 9 +UTR3 ZNF578(NM_001099694:c.*457T>G) chr19 53015864 53015864 T G het . 8 +UTR3 ZNF578(NM_001099694:c.*722G>A) chr19 53016129 53016129 G A het . 2 +UTR3 ZNF578(NM_001099694:c.*3969_*3970delinsCA) chr19 53019376 53019377 TG CA het . 4 +UTR3 ZNF578(NM_001099694:c.*3984C>A) chr19 53019391 53019391 C A het . 5 +exonic ZNF808 chr19 53056953 53056953 G A het . 8 +exonic ZNF701 chr19 53075519 53075519 G T het . 2 +intronic ZNF701 chr19 53075734 53075734 C T het . 7 +exonic ZNF701 chr19 53077411 53077411 T C het . 13 +intronic ZNF701 chr19 53085416 53085416 G A het . 2 +exonic ZNF701 chr19 53085659 53085659 C T het . 13 +exonic ZNF701 chr19 53085813 53085813 T C het . 38 +exonic ZNF701 chr19 53086124 53086124 C A het . 27 +UTR3 ZNF701(NM_018260:c.*912T>C,NM_001172655:c.*912T>C) chr19 53087622 53087622 T C het . 2 +intergenic ZNF701(dist=1311),ZNF137P(dist=8199) chr19 53091738 53091738 A - het . 8 +intergenic ZNF701(dist=1337),ZNF137P(dist=8173) chr19 53091764 53091764 C G het . 5 +intergenic ZNF701(dist=2515),ZNF137P(dist=6995) chr19 53092942 53092942 A G het . 2 +intergenic ZNF701(dist=5099),ZNF137P(dist=4411) chr19 53095526 53095526 A G het . 12 +intergenic ZNF701(dist=5163),ZNF137P(dist=4347) chr19 53095590 53095590 C T het . 5 +intergenic ZNF701(dist=5179),ZNF137P(dist=4331) chr19 53095606 53095606 A G het . 4 +intergenic ZNF701(dist=8507),ZNF137P(dist=1003) chr19 53098934 53098934 T C het . 11 +upstream ZNF137P(dist=897) chr19 53099040 53099040 T G het . 12 +upstream ZNF137P(dist=868) chr19 53099069 53099069 A G het . 17 +upstream ZNF137P(dist=837) chr19 53099100 53099100 T C het . 19 +upstream ZNF137P(dist=640) chr19 53099297 53099297 G T het . 21 +upstream ZNF137P(dist=629) chr19 53099308 53099308 A G het . 18 +upstream ZNF137P(dist=528) chr19 53099409 53099409 T C het . 6 +upstream ZNF137P(dist=329) chr19 53099608 53099608 T G het . 6 +upstream ZNF137P(dist=300) chr19 53099637 53099637 A G het . 6 +upstream ZNF137P(dist=284) chr19 53099653 53099653 G A het . 6 +upstream ZNF137P(dist=228) chr19 53099709 53099709 C T het . 3 +upstream ZNF137P(dist=179) chr19 53099758 53099758 G A het . 5 +upstream ZNF137P(dist=141) chr19 53099796 53099796 C T het . 7 +ncRNA_exonic ZNF137P chr19 53099965 53099965 A G het . 5 +ncRNA_exonic ZNF137P chr19 53099975 53099975 C G het . 6 +ncRNA_exonic ZNF137P chr19 53100585 53100585 G T het . 23 +UTR3 ZNF83(NM_001348016:c.*207C>T,NM_001348015:c.*207C>T,NM_001105552:c.*207C>T,NM_018300:c.*207C>T,NM_001348019:c.*207C>T,NM_001348018:c.*207C>T,NM_001277952:c.*207C>T,NM_001277951:c.*207C>T,NM_001277949:c.*207C>T,NM_001277948:c.*207C>T,NM_001277947:c.*207C>T,NM_001277946:c.*207C>T,NM_001277945:c.*207C>T,NM_001348017:c.*207C>T,NM_001105551:c.*207C>T,NM_001105550:c.*207C>T,NM_001105549:c.*207C>T) chr19 53116060 53116060 G A het . 5 +exonic ZNF83 chr19 53117531 53117531 C T het . 29 +exonic ZNF83 chr19 53117809 53117809 C A het . 10 +intronic ZNF83 chr19 53122168 53122168 C T het . 6 +intronic ZNF83 chr19 53122361 53122361 - TATC het . 9 +intronic ZNF83 chr19 53122472 53122472 T G het . 17 +intronic ZNF83 chr19 53122511 53122511 T G het . 6 +intronic ZNF83 chr19 53131522 53131522 G C het . 5 +intronic ZNF83 chr19 53135917 53135917 G A het . 2 +intronic ZNF83 chr19 53135920 53135920 T - het . 2 +intronic ZNF83 chr19 53135941 53135941 C T het . 1 +intronic ZNF83 chr19 53137943 53137943 T G het . 4 +intronic ZNF83 chr19 53138228 53138230 CTT - het . 2 +UTR5 ZNF83(NM_001348016:c.-20605T>C,NM_001277951:c.-20605T>C) chr19 53138422 53138422 A G het . 3 +intronic ZNF83 chr19 53142994 53142994 C G het . 4 +intronic ZNF83 chr19 53144803 53144803 A C het . 1 +intronic ZNF83 chr19 53144820 53144820 T C het . 3 +intronic ZNF83 chr19 53145451 53145451 T A het . 2 +intronic ZNF83 chr19 53155594 53155594 A T het . 4 +intronic ZNF83 chr19 53156337 53156337 T C het . 12 +intronic ZNF83 chr19 53157171 53157171 T C het . 12 +UTR5 ZNF83(NM_001348015:c.-41107G>A,NM_001348019:c.-41107G>A,NM_001348018:c.-41107G>A,NM_001277949:c.-41107G>A,NM_001277947:c.-41107G>A,NM_001277946:c.-41107G>A,NM_001277945:c.-41107G>A,NM_001348017:c.-41107G>A) chr19 53158924 53158924 C T het . 5 +intronic ZNF83 chr19 53158992 53158992 C G het . 3 +intronic ZNF83 chr19 53159084 53159084 T C het . 3 +intronic ZNF83 chr19 53179765 53179765 C T het . 1 +UTR5 ZNF83(NM_001348015:c.-75953T>C,NM_001348019:c.-75953T>C,NM_001348018:c.-75953T>C,NM_001277949:c.-75953T>C,NM_001277948:c.-75953T>C,NM_001277947:c.-75953T>C,NM_001277946:c.-75953T>C,NM_001277945:c.-75953T>C,NM_001348017:c.-75953T>C) chr19 53193770 53193770 A G het . 5 +intronic ZNF611 chr19 53213411 53213411 A G het . 2 +intergenic ZNF611(dist=3763),ZNF600(dist=25996) chr19 53242070 53242070 T A het . 2 +intergenic ZNF611(dist=3767),ZNF600(dist=25992) chr19 53242074 53242074 C T het . 2 +intergenic ZNF611(dist=5373),ZNF600(dist=24386) chr19 53243680 53243680 C T het . 11 +intergenic ZNF611(dist=19962),ZNF600(dist=9797) chr19 53258269 53258269 G A het . 4 +intergenic ZNF611(dist=25510),ZNF600(dist=4249) chr19 53263817 53263817 G A het . 5 +exonic ZNF600 chr19 53270384 53270384 A G het . 7 +intronic ZNF600 chr19 53278982 53278982 G T het . 2 +exonic ZNF600 chr19 53282123 53282123 C G het . 10 +UTR5 ZNF600(NM_001321867:c.-7834T>C,NM_001321866:c.-7834T>C,NM_198457:c.-18967T>C) chr19 53289975 53289975 A G het . 8 +UTR5 ZNF600(NM_001321867:c.-7895_-7896delGG,NM_001321866:c.-7895_-7896delGG,NM_198457:c.-19028_-19029delGG) chr19 53290036 53290037 CC - het . 8 +UTR5 ZNF600(NM_001321867:c.-7903A>T,NM_001321866:c.-7903A>T,NM_198457:c.-19036A>T) chr19 53290044 53290044 T A het . 8 +upstream ZNF600(dist=12) chr19 53290056 53290056 G C het . 7 +upstream ZNF600(dist=43) chr19 53290087 53290087 A G het . 9 +upstream ZNF600(dist=52) chr19 53290096 53290096 C G het . 9 +upstream ZNF600(dist=54) chr19 53290098 53290098 C A het . 9 +upstream ZNF600(dist=61) chr19 53290105 53290105 A G het . 9 +intergenic ZNF600(dist=4720),ZNF28(dist=5896) chr19 53294764 53294765 TG GC het . 11 +intergenic ZNF600(dist=4796),ZNF28(dist=5821) chr19 53294840 53294840 - A het . 5 +UTR3 ZNF28(NM_006969:c.*1170C>T) chr19 53301771 53301771 G A het . 13 +UTR3 ZNF28(NM_006969:c.*1064_*1062delGGA) chr19 53301877 53301879 TCC - het . 7 +UTR3 ZNF28(NM_006969:c.*884G>T) chr19 53302057 53302057 C A het . 14 +UTR3 ZNF28(NM_006969:c.*488T>C) chr19 53302453 53302453 A G het . 4 +UTR3 ZNF28(NM_006969:c.*460T>C) chr19 53302481 53302481 A G het . 4 +UTR3 ZNF28(NM_006969:c.*319G>A) chr19 53302622 53302622 C T het . 3 +UTR3 ZNF28(NM_006969:c.*204A>G) chr19 53302737 53302737 T C het . 2 +exonic ZNF28 chr19 53303527 53303527 A G het . 28 +exonic ZNF28 chr19 53303705 53303705 T G het . 19 +exonic ZNF28 chr19 53303745 53303745 T C het . 25 +intronic ZNF28 chr19 53311395 53311395 G A het . 8 +intronic ZNF28 chr19 53311563 53311563 C T het . 2 +intronic ZNF28 chr19 53313419 53313419 G C het . 13 +intronic ZNF28 chr19 53314092 53314094 GTC TAT het . 2 +intronic ZNF28 chr19 53320816 53320816 T C het . 1 +intronic ZNF28 chr19 53320822 53320822 C T het . 2 +intronic ZNF28 chr19 53320975 53320975 A C het . 2 +intronic ZNF28 chr19 53322594 53322594 T G het . 2 +intergenic ZNF28(dist=1226),ZNF468(dist=15637) chr19 53326148 53326148 C A het . 2 +intergenic ZNF28(dist=8530),ZNF468(dist=8333) chr19 53333452 53333452 C T het . 3 +intergenic ZNF28(dist=8543),ZNF468(dist=8320) chr19 53333465 53333465 G C het . 2 +intergenic ZNF28(dist=8854),ZNF468(dist=8009) chr19 53333776 53333776 G A het . 1 +UTR3 ZNF468(NM_001277120:c.*2478T>C,NM_001008801:c.*1175T>C) chr19 53342803 53342803 A G het . 7 +UTR3 ZNF468(NM_001277120:c.*1747_*1746delinsGT,NM_001008801:c.*444_*443delinsGT) chr19 53343534 53343535 GT AC het . 7 +UTR3 ZNF468(NM_001277120:c.*1514C>T,NM_001008801:c.*211C>T) chr19 53343767 53343767 G A het . 4 +UTR3 ZNF468(NM_001277120:c.*1502T>C,NM_001008801:c.*199T>C) chr19 53343779 53343779 A G het . 5 +UTR3 ZNF468(NM_001277120:c.*1342A>C,NM_001008801:c.*39A>C) chr19 53343939 53343939 T G het . 19 +exonic ZNF468 chr19 53344426 53344426 T C het . 25 +exonic ZNF468 chr19 53344701 53344701 A G het . 28 +exonic ZNF468 chr19 53344919 53344919 T G het . 37 +exonic ZNF468 chr19 53345176 53345176 C T het . 22 +intronic ZNF468 chr19 53352568 53352568 A G het . 13 +UTR3 ZNF320(NM_001351777:c.*2128T>C) chr19 53365154 53365154 A G het . 4 +UTR3 ZNF320(NM_001351777:c.*1725delT) chr19 53365557 53365557 A - het . 16 +UTR3 ZNF320(NM_001351777:c.*33C>T) chr19 53367249 53367249 G A het . 4 +UTR3 ZNF320(NM_001351776:c.*2420C>A,NM_001351775:c.*2420C>A,NM_001351774:c.*2420C>A,NM_001351773:c.*2420C>A,NM_207333:c.*2420C>A) chr19 53381429 53381429 G T het . 4 +exonic ZNF320 chr19 53384185 53384185 C T het . 22 +exonic ZNF888 chr19 53409766 53409766 C A het . 19 +exonic ZNF888 chr19 53409976 53409976 T C het . 2 +upstream ZNF888(dist=301) chr19 53421485 53421485 A G het . 2 +upstream ZNF888(dist=317) chr19 53421501 53421501 C G het . 2 +intergenic ZNF888(dist=3140),ZNF816-ZNF321P(dist=6064) chr19 53424324 53424324 G A het . 3 +ncRNA_exonic ZNF321P chr19 53430969 53430969 A G het . 3 +ncRNA_exonic ZNF321P chr19 53431000 53431000 G C het . 3 +ncRNA_intronic ZNF321P chr19 53435559 53435559 G C het . 6 +ncRNA_intronic ZNF702P chr19 53484076 53484078 ACT - het . 5 +intergenic ZNF702P(dist=1683),ERVV-1(dist=18877) chr19 53498467 53498467 G T het . 14 +intergenic ZNF702P(dist=11832),ERVV-1(dist=8728) chr19 53508616 53508616 C A het . 2 +intergenic ERVV-1(dist=22990),ERVV-2(dist=5168) chr19 53542823 53542823 G A het . 4 +exonic ERVV-2 chr19 53553686 53553686 G A het . 9 +intergenic ERVV-2(dist=4420),ZNF160(dist=11067) chr19 53558800 53558800 A G het . 2 +intergenic ERVV-2(dist=4594),ZNF160(dist=10893) chr19 53558974 53558974 - T het . 2 +UTR3 ZNF160(NM_001322139:c.*24A>G,NM_001322138:c.*24A>G,NM_001322137:c.*24A>G,NM_001322136:c.*24A>G,NM_001322135:c.*24A>G,NM_001322134:c.*24A>G,NM_001322133:c.*24A>G,NM_001322132:c.*24A>G,NM_001322131:c.*24A>G,NM_001322130:c.*24A>G,NM_001322129:c.*24A>G,NM_001322128:c.*24A>G,NM_001102603:c.*24A>G,NM_033288:c.*24A>G,NM_198893:c.*24A>G) chr19 53571306 53571306 T C het . 4 +UTR3 ZNF160(NM_001322126:c.*1G>C,NM_001322125:c.*1G>C) chr19 53576589 53576589 C G het . 8 +exonic ZNF160 chr19 53577419 53577419 G C het . 18 +intronic ZNF160 chr19 53589049 53589049 T C het . 2 +intronic ZNF160 chr19 53589677 53589677 C T het . 2 +exonic ZNF415 chr19 53612311 53612311 T C het . 11 +exonic ZNF415 chr19 53612745 53612745 T C het . 19 +exonic ZNF415 chr19 53612757 53612757 T G het . 13 +intronic ZNF415 chr19 53632326 53632326 C G het . 3 +intronic ZNF415 chr19 53632329 53632329 T C het . 3 +intronic ZNF415 chr19 53632387 53632387 A C het . 9 +intronic ZNF415 chr19 53632412 53632412 G A het . 7 +intronic ZNF415 chr19 53632617 53632617 C G het . 3 +exonic ZNF347 chr19 53645291 53645291 T C het . 38 +intronic ZNF347 chr19 53649073 53649073 A G het . 2 +intronic ZNF347 chr19 53651845 53651845 - TC het . 3 +intronic ZNF347 chr19 53652813 53652813 C A het . 3 +intronic ZNF347 chr19 53654909 53654909 T C het . 2 +intronic ZNF347 chr19 53655493 53655493 T C het . 2 +exonic ZNF665 chr19 53667804 53667804 C T het . 9 +exonic ZNF665 chr19 53667913 53667913 A G het . 14 +exonic ZNF665 chr19 53667940 53667940 A G het . 14 +exonic ZNF665 chr19 53668697 53668697 T C het . 19 +exonic ZNF665 chr19 53669273 53669273 T C het . 23 +exonic ZNF665 chr19 53669492 53669492 A G het . 16 +intronic ZNF665 chr19 53669653 53669653 C T het . 2 +intronic ZNF665 chr19 53670029 53670029 C T het . 2 +intronic ZNF665 chr19 53678924 53678924 C A het . 4 +intronic ZNF665 chr19 53686212 53686212 A G het . 29 +intergenic ZNF665(dist=9079),ZNF818P(dist=10444) chr19 53705757 53705757 - T het . 3 +intergenic ZNF665(dist=9131),ZNF818P(dist=10392) chr19 53705809 53705809 G C het . 2 +intergenic ZNF665(dist=10611),ZNF818P(dist=8912) chr19 53707289 53707289 C T het . 18 +intergenic ZNF665(dist=11623),ZNF818P(dist=7900) chr19 53708301 53708301 G A het . 3 +intergenic ZNF818P(dist=7620),ZNF677(dist=11659) chr19 53726975 53726975 C T het . 5 +intergenic ZNF818P(dist=7742),ZNF677(dist=11537) chr19 53727097 53727097 G A het . 35 +intergenic ZNF818P(dist=7745),ZNF677(dist=11534) chr19 53727100 53727100 - TA het . 37 +intergenic ZNF818P(dist=7927),ZNF677(dist=11352) chr19 53727282 53727282 A G het . 37 +intergenic ZNF818P(dist=8037),ZNF677(dist=11242) chr19 53727392 53727392 T C het . 32 +intergenic ZNF818P(dist=8289),ZNF677(dist=10990) chr19 53727644 53727644 T C het . 15 +intergenic ZNF818P(dist=8555),ZNF677(dist=10723) chr19 53727910 53727911 AT - het . 18 +exonic ZNF677 chr19 53740822 53740822 T C het . 19 +exonic ZNF677 chr19 53741068 53741068 C T het . 14 +exonic ZNF677 chr19 53741188 53741188 C T het . 20 +intronic ZNF677 chr19 53750485 53750485 C T het . 3 +intronic ZNF677 chr19 53753974 53753974 C T het . 2 +intronic ZNF677 chr19 53754736 53754736 T C het . 14 +exonic VN1R2 chr19 53761740 53761740 T C het . 6 +exonic VN1R2 chr19 53762537 53762537 C T het . 13 +intergenic VN1R4(dist=4516),FAM90A27P(dist=10109) chr19 53775434 53775434 A C het . 2 +intergenic VN1R4(dist=4530),FAM90A27P(dist=10095) chr19 53775448 53775448 A G het . 2 +upstream FAM90A27P(dist=755) chr19 53784788 53784788 G A het . 4 +upstream FAM90A27P(dist=644) chr19 53784899 53784899 C T het . 10 +ncRNA_exonic FAM90A27P chr19 53786091 53786091 C A het . 12 +exonic BIRC8 chr19 53793042 53793042 G A het . 22 +exonic BIRC8 chr19 53793574 53793574 A G het . 16 +intergenic BIRC8(dist=9285),ZNF845(dist=32812) chr19 53804160 53804160 T C het . 2 +intergenic BIRC8(dist=28024),ZNF845(dist=14073) chr19 53822899 53822899 T C het . 2 +intergenic BIRC8(dist=30936),ZNF845(dist=11161) chr19 53825811 53825811 T C het . 2 +intergenic BIRC8(dist=38234),ZNF845(dist=3863) chr19 53833109 53833109 C T het . 4 +intronic ZNF845 chr19 53844653 53844653 T C het . 13 +intronic ZNF845 chr19 53848640 53848640 C T het . 8 +intronic ZNF845 chr19 53849632 53849632 - C het . 11 +intronic ZNF845 chr19 53849700 53849700 G A het . 4 +intronic ZNF845 chr19 53849750 53849750 G A het . 2 +exonic ZNF845 chr19 53855973 53855973 G T het . 31 +exonic ZNF845 chr19 53856349 53856349 A T het . 31 +intronic ZNF525 chr19 53879562 53879564 ACA - het . 18 +exonic ZNF525 chr19 53884412 53884412 G A het . 26 +UTR3 ZNF525(NM_001348156:c.*1014T>C,NM_001348157:c.*1014T>C) chr19 53886286 53886286 T C het . 24 +UTR3 ZNF525(NM_001348156:c.*1749C>T,NM_001348157:c.*1749C>T) chr19 53887021 53887021 C T het . 14 +UTR3 ZNF525(NM_001348156:c.*1763C>A,NM_001348157:c.*1763C>A) chr19 53887035 53887035 C A het . 13 +UTR3 ZNF525(NM_001348156:c.*4279C>G,NM_001348157:c.*4279C>G) chr19 53889551 53889551 C G het . 23 +intronic ZNF765,ZNF765-ZNF761 chr19 53905130 53905131 AA - het . 16 +intronic ZNF765,ZNF765-ZNF761 chr19 53905972 53905972 C T het . 2 +intronic ZNF765,ZNF765-ZNF761 chr19 53910912 53910912 G A het . 4 +exonic ZNF765 chr19 53911510 53911510 G A het . 25 +exonic ZNF765 chr19 53912242 53912242 G A het . 25 +UTR3 ZNF765(NM_001350495:c.*141G>A,NM_001040185:c.*141G>A) chr19 53912521 53912521 G A het . 16 +UTR3 ZNF765(NM_001350495:c.*168T>C,NM_001040185:c.*168T>C) chr19 53912548 53912548 T C het . 18 +UTR3 ZNF765(NM_001350495:c.*390G>A,NM_001040185:c.*390G>A) chr19 53912770 53912770 G A het . 14 +UTR3 ZNF765(NM_001350495:c.*425_*426insAC,NM_001040185:c.*425_*426insAC) chr19 53912805 53912805 - AC het . 20 +UTR3 ZNF765(NM_001350495:c.*1175C>G,NM_001040185:c.*1175C>G) chr19 53913555 53913555 C G het . 4 +UTR3 ZNF765(NM_001350495:c.*1728C>T,NM_001040185:c.*1728C>T) chr19 53914108 53914108 C T het . 7 +intronic ZNF765-ZNF761 chr19 53915309 53915309 A T het . 2 +intronic ZNF765-ZNF761 chr19 53915435 53915435 A G het . 5 +intronic ZNF765-ZNF761 chr19 53916369 53916369 - A het . 5 +intronic ZNF765-ZNF761 chr19 53917264 53917264 C T het . 2 +intronic ZNF765-ZNF761 chr19 53919210 53919210 - TTGTTTG het . 4 +ncRNA_intronic TPM3P9 chr19 53944945 53944945 T C het . 2 +ncRNA_exonic TPM3P9 chr19 53945114 53945114 G C het . 8 +ncRNA_exonic TPM3P9 chr19 53945215 53945215 G A het . 11 +ncRNA_exonic TPM3P9 chr19 53945250 53945250 A T het . 6 +ncRNA_exonic TPM3P9 chr19 53945504 53945504 C T het . 18 +ncRNA_exonic TPM3P9 chr19 53945679 53945679 T G het . 2 +ncRNA_exonic TPM3P9 chr19 53945701 53945701 C T het . 2 +ncRNA_exonic TPM3P9 chr19 53946133 53946133 A - het . 2 +exonic ZNF761,ZNF765-ZNF761 chr19 53958126 53958126 T G het . 30 +exonic ZNF761,ZNF765-ZNF761 chr19 53958263 53958263 G A het . 35 +exonic ZNF761,ZNF765-ZNF761 chr19 53959343 53959343 G A het . 23 +exonic ZNF761,ZNF765-ZNF761 chr19 53959568 53959568 G C het . 10 +intronic ZNF813 chr19 53983048 53983048 A G het . 11 +intronic ZNF813 chr19 53989298 53989298 G A het . 2 +intronic ZNF813 chr19 53989669 53989669 C T het . 5 +intronic ZNF813 chr19 53989700 53989700 - A het . 4 +intronic ZNF813 chr19 53989728 53989728 A G het . 5 +intronic ZNF813 chr19 53989843 53989843 A T het . 12 +intronic ZNF813 chr19 53993443 53993443 G C het . 2 +intronic ZNF813 chr19 53993551 53993551 - TG het . 6 +exonic ZNF813 chr19 53993670 53993670 G A het . 18 +exonic ZNF813 chr19 53995004 53995004 G A het . 27 +UTR3 ZNF813(NM_001004301:c.*351A>T) chr19 53995691 53995691 A T het . 5 +UTR3 ZNF813(NM_001004301:c.*410C>T) chr19 53995750 53995750 C T het . 4 +downstream ZNF813(dist=732) chr19 53998278 53998278 A - het . 3 +intergenic ZNF813(dist=9599),ZNF331(dist=17032) chr19 54007145 54007145 G A het . 2 +intergenic ZNF813(dist=23329),ZNF331(dist=3302) chr19 54020875 54020875 G A het . 2 +intronic ZNF331 chr19 54072757 54072757 C T het . 3 +intronic ZNF331 chr19 54072782 54072782 T C het . 2 +intronic ZNF331 chr19 54079793 54079793 A G het . 2 +exonic ZNF331 chr19 54080144 54080144 A G het . 19 +intergenic ZNF331(dist=13485),LOC284379(dist=5877) chr19 54097008 54097008 C G het . 3 +intergenic LOC284379(dist=2642),DPRX(dist=25917) chr19 54109393 54109393 G C het . 2 +intergenic LOC284379(dist=13537),DPRX(dist=15022) chr19 54120288 54120288 C A het . 31 +intergenic LOC284379(dist=16741),DPRX(dist=11818) chr19 54123492 54123492 T G het . 2 +intronic DPRX chr19 54139640 54139640 T A het . 2 +intronic DPRX chr19 54139642 54139642 A T het . 2 +intronic DPRX chr19 54139696 54139701 AAAAAG - het . 3 +exonic DPRX chr19 54140068 54140068 C A het . 17 +intergenic DPRX(dist=2110),MIR512-2(dist=27554) chr19 54142373 54142373 C T het . 1 +intergenic DPRX(dist=21322),MIR512-2(dist=8342) chr19 54161585 54161585 G A het . 13 +intergenic MIR512-2(dist=1012),MIR512-2(dist=1375) chr19 54171036 54171036 A - het . 2 +upstream MIR515-1,MIR515-2,MIR519E(dist=8) chr19 54182249 54182249 T C het . 7 +downstream MIR519E(dist=183) chr19 54183460 54183460 T C het . 2 +downstream MIR519E(dist=205) chr19 54183482 54183482 C T het . 2 +upstream MIR520F(dist=107) chr19 54185306 54185306 A G het . 5 +upstream MIR520F(dist=102) chr19 54185311 54185311 C T het . 5 +downstream MIR520F(dist=443) chr19 54185942 54185942 C T het . 3 +downstream MIR520F(dist=464) chr19 54185963 54185963 T C het . 3 +downstream MIR520F(dist=473) chr19 54185972 54185972 A G het . 3 +downstream MIR515-1,MIR515-2(dist=110) chr19 54188455 54188455 T C het . 4 +upstream MIR519C(dist=13) chr19 54189710 54189710 T C het . 13 +downstream MIR519C(dist=21) chr19 54189830 54189830 G A het . 20 +downstream MIR519C(dist=32) chr19 54189841 54189841 C T het . 17 +downstream MIR519C(dist=133) chr19 54189942 54189942 G A het . 6 +ncRNA_exonic MIR1283-1 chr19 54191743 54191743 A G het . 22 +downstream MIR1283-1(dist=48) chr19 54191869 54191869 A G het . 10 +intergenic MIR520A(dist=1021),MIR526B(dist=2407) chr19 54195240 54195240 G A het . 2 +upstream MIR526B(dist=692) chr19 54196955 54196955 A G het . 2 +upstream MIR526B(dist=641) chr19 54197006 54197006 C G het . 3 +upstream MIR519B,MIR526B(dist=14) chr19 54197633 54197633 A G het . 9 +upstream;downstream MIR523(dist=745);MIR525(dist=23) chr19 54200894 54200894 C G het . 15 +upstream MIR518B(dist=30) chr19 54205961 54205961 T A het . 6 +upstream MIR518C(dist=86) chr19 54211903 54211903 T G het . 14 +downstream MIR518C(dist=402) chr19 54212491 54212491 A G het . 2 +upstream;downstream MIR519D(dist=305);MIR517A(dist=688) chr19 54216296 54216296 A G het . 2 +upstream;downstream MIR517B(dist=44);MIR520D(dist=850) chr19 54224286 54224286 A - het . 8 +upstream MIR518E(dist=85) chr19 54233007 54233007 G A het . 2 +upstream;downstream MIR518A1(dist=114);MIR518E(dist=967) chr19 54234146 54234146 A G het . 7 +downstream MIR518A1(dist=9) chr19 54234353 54234353 A G het . 16 +downstream MIR518D(dist=48) chr19 54238265 54238265 G C het . 10 +upstream MIR516B1(dist=11) chr19 54240088 54240088 G A het . 12 +ncRNA_exonic MIR516B1 chr19 54240136 54240136 C G het . 16 +downstream MIR518A2(dist=88) chr19 54242761 54242761 A G het . 5 +upstream MIR517C(dist=418) chr19 54244149 54244149 G A het . 2 +downstream MIR517C(dist=60) chr19 54244721 54244721 G T het . 8 +upstream MIR520H(dist=60) chr19 54245706 54245706 G C het . 11 +upstream MIR520H(dist=22) chr19 54245744 54245744 C T het . 6 +downstream MIR519A1(dist=144) chr19 54255879 54255881 TTT - het . 4 +upstream MIR527(dist=87) chr19 54257185 54257185 C G het . 2 +upstream MIR527(dist=81) chr19 54257190 54257191 AC GA het . 2 +upstream;downstream MIR519A2(dist=320);MIR516A2(dist=802) chr19 54265278 54265278 G C het . 2 +downstream MIR519A2(dist=96) chr19 54265780 54265780 T - het . 11 +downstream MIR519A2(dist=139) chr19 54265823 54265823 C T het . 6 +intergenic MIR519A2(dist=5480),MIR371A(dist=19765) chr19 54271164 54271164 C G het . 8 +intergenic MIR519A2(dist=9991),MIR371A(dist=15254) chr19 54275675 54275675 C A het . 14 +intergenic MIR519A2(dist=10068),MIR371A(dist=15177) chr19 54275752 54275752 A G het . 17 +intergenic MIR519A2(dist=10557),MIR371A(dist=14688) chr19 54276241 54276241 T G het . 25 +intergenic MIR519A2(dist=10718),MIR371A(dist=14527) chr19 54276402 54276402 T C het . 17 +intergenic MIR519A2(dist=12062),MIR371A(dist=13183) chr19 54277746 54277746 T G het . 2 +intergenic MIR519A2(dist=13133),MIR371A(dist=12112) chr19 54278817 54278817 A G het . 3 +intergenic MIR519A2(dist=13177),MIR371A(dist=12068) chr19 54278861 54278861 T C het . 14 +intergenic MIR519A2(dist=13283),MIR371A(dist=11962) chr19 54278967 54278967 A G het . 13 +intergenic MIR519A2(dist=13378),MIR371A(dist=11867) chr19 54279062 54279062 G A het . 17 +intergenic MIR519A2(dist=13424),MIR371A(dist=11821) chr19 54279108 54279108 G C het . 18 +intergenic MIR519A2(dist=13438),MIR371A(dist=11807) chr19 54279122 54279122 C A het . 10 +intergenic MIR519A2(dist=13502),MIR371A(dist=11743) chr19 54279186 54279186 T A het . 7 +upstream;downstream MIR371B,MIR373(dist=127);MIR371A,MIR372(dist=622) chr19 54291832 54291832 C T het . 7 +exonic NLRP12 chr19 54307216 54307216 G A het . 36 +exonic NLRP12 chr19 54307322 54307322 G A het . 33 +exonic NLRP12 chr19 54308554 54308554 C T het . 40 +intronic NLRP12 chr19 54308775 54308775 - T het . 13 +intronic NLRP12 chr19 54310961 54310961 G C het . 27 +intronic NLRP12 chr19 54311186 54311186 T C het . 1 +intronic NLRP12 chr19 54314585 54314585 G A het . 26 +UTR5 NLRP12(NM_144687:c.-12C>T,NM_001277126:c.-12C>T,NM_001277129:c.-12C>T) chr19 54327440 54327440 G A het . 14 +intergenic NLRP12(dist=4654),MYADM(dist=36527) chr19 54332311 54332311 C T het . 2 +intergenic MYADM(dist=1312),PRKCG(dist=4437) chr19 54381001 54381001 G T het . 5 +upstream PRKCG(dist=1) chr19 54385437 54385437 A C het . 5 +exonic PRKCG chr19 54385820 54385820 C T het . 15 +intronic PRKCG chr19 54387313 54387313 A T het . 12 +intronic CACNG7 chr19 54441200 54441200 T C het . 2 +UTR3 CACNG7(NM_031896:c.*48delG) chr19 54445595 54445595 G - het . 3 +intergenic CACNG7(dist=5283),CACNG8(dist=14038) chr19 54452252 54452252 T C het . 2 +UTR3 CACNG8(NM_031895:c.*3089_*3090delGA) chr19 54489192 54489193 GA - het . 2 +UTR3 CACNG8(NM_031895:c.*6343A>G) chr19 54492446 54492446 A G het . 2 +intronic CACNG6 chr19 54508689 54508689 - AA het . 2 +intronic CACNG6 chr19 54511555 54511555 T C het . 2 +exonic VSTM1 chr19 54545531 54545531 T C het . 19 +intronic VSTM1 chr19 54556105 54556105 C A het . 2 +intronic VSTM1 chr19 54561494 54561494 A - het . 5 +intronic VSTM1 chr19 54566901 54566901 C T het . 5 +intronic TARM1 chr19 54579363 54579363 C A het . 5 +intergenic TARM1(dist=5847),OSCAR(dist=7452) chr19 54590481 54590481 A G het . 8 +intergenic TARM1(dist=7872),OSCAR(dist=5427) chr19 54592506 54592506 - AAAGGAAGGA het . 2 +exonic OSCAR chr19 54600232 54600232 A C het . 28 +intronic OSCAR chr19 54603105 54603107 TTT - het . 9 +UTR5 OSCAR(NM_133169:c.-111C>G,NM_133168:c.-111C>G,NM_001282350:c.-111C>G,NM_001282349:c.-111C>G,NM_130771:c.-111C>G,NM_206818:c.-111C>G) chr19 54604194 54604194 G C het . 11 +intronic NDUFA3 chr19 54606209 54606209 T G het . 4 +intronic NDUFA3 chr19 54606405 54606405 T C het . 10 +exonic TFPT chr19 54611531 54611531 C T het . 4 +intronic TFPT chr19 54611560 54611560 C G het . 4 +intronic PRPF31 chr19 54622187 54622187 A - het . 3 +intronic PRPF31 chr19 54627097 54627097 T C het . 3 +intronic PRPF31 chr19 54631376 54631376 G T het . 8 +intronic PRPF31 chr19 54631378 54631378 T C het . 8 +intronic PRPF31 chr19 54631381 54631381 G A het . 9 +intronic PRPF31 chr19 54632352 54632352 C G het . 9 +intronic PRPF31 chr19 54632423 54632423 T C het . 34 +intergenic PRPF31(dist=1053),CNOT3(dist=5233) chr19 54636203 54636203 C T het . 2 +intergenic PRPF31(dist=1105),CNOT3(dist=5181) chr19 54636255 54636255 C T het . 4 +intergenic PRPF31(dist=1115),CNOT3(dist=5171) chr19 54636265 54636265 - TTTG het . 3 +intronic CNOT3 chr19 54646603 54646603 T C het . 5 +exonic CNOT3 chr19 54649671 54649671 T C het . 4 +intronic TMC4 chr19 54666357 54666357 C G het . 10 +intronic TMC4 chr19 54671790 54671790 A - het . 4 +exonic MBOAT7 chr19 54677759 54677759 T C het . 4 +exonic MBOAT7 chr19 54684609 54684609 G A het . 16 +UTR5 TSEN34(NM_001077446:c.-53T>C) chr19 54695163 54695163 T C het . 18 +exonic TSEN34 chr19 54697079 54697079 C T het . 13 +UTR3 TSEN34(NM_024075:c.*385G>A,NM_001282333:c.*76G>A,NM_001282332:c.*385G>A,NM_001077446:c.*385G>A) chr19 54697602 54697602 G A het . 8 +intergenic TSEN34(dist=3183),RPS9(dist=3149) chr19 54701577 54701577 - T het . 3 +intronic RPS9 chr19 54705317 54705317 C G het . 9 +intronic RPS9 chr19 54705340 54705340 C G het . 9 +intronic RPS9 chr19 54708077 54708077 T C het . 2 +intronic RPS9 chr19 54711258 54711258 T G het . 5 +intergenic RPS9(dist=6109),LILRB3(dist=2523) chr19 54717624 54717624 T A het . 1 +intergenic RPS9(dist=6639),LILRB3(dist=1993) chr19 54718154 54718154 T G het . 3 +intronic LILRB3 chr19 54723355 54723355 A G het . 12 +intronic LILRB3 chr19 54725995 54725995 G A het . 2 +intronic LILRB3 chr19 54726226 54726226 T C het . 2 +intronic LILRB3 chr19 54729567 54729567 - C het . 3 +intronic LILRB3 chr19 54732351 54732351 C T het . 3 +intronic LILRB3 chr19 54733038 54733038 C G het . 8 +intronic LILRB3 chr19 54734184 54734184 C G het . 4 +intronic LILRB3 chr19 54735619 54735619 G A het . 14 +intronic LILRB5 chr19 54755855 54755855 C T het . 2 +exonic LILRB5 chr19 54755918 54755918 C G het . 10 +intronic LILRB5 chr19 54755978 54755978 C G het . 11 +intronic LILRB5 chr19 54755994 54755994 G A het . 9 +intronic LILRB5 chr19 54756024 54756024 A C het . 4 +intronic LILRB5 chr19 54756302 54756302 A G het . 6 +intronic LILRB5 chr19 54757676 54757676 T C het . 3 +intergenic LILRB5(dist=11264),LILRB2(dist=5240) chr19 54772435 54772435 T A het . 2 +intergenic LILRB5(dist=11567),LILRB2(dist=4937) chr19 54772738 54772738 A G het . 7 +intergenic LILRB5(dist=11588),LILRB2(dist=4916) chr19 54772759 54772759 - AA het . 8 +intergenic LILRB5(dist=11702),LILRB2(dist=4802) chr19 54772873 54772873 C G het . 10 +intergenic LILRB5(dist=11710),LILRB2(dist=4794) chr19 54772881 54772881 A G het . 11 +intronic LILRB2 chr19 54779389 54779389 C T het . 2 +intronic LILRB2 chr19 54779455 54779455 C T het . 4 +intronic LILRB2 chr19 54781010 54781010 T C het . 7 +exonic LILRB2 chr19 54782919 54782919 C T het . 5 +exonic LILRB2 chr19 54783375 54783375 T A het . 10 +exonic LILRB2 chr19 54783923 54783923 A G het . 7 +intronic LILRA3 chr19 54800222 54800222 A G het . 9 +intronic LILRA3 chr19 54800225 54800225 A G het . 10 +intergenic LILRA3(dist=5071),LILRA5(dist=9017) chr19 54809336 54809336 C G het . 7 +intergenic LILRA3(dist=5078),LILRA5(dist=9010) chr19 54809343 54809343 T G het . 5 +intronic LILRA5 chr19 54823533 54823533 T C het . 10 +intergenic LILRA5(dist=2992),LILRA4(dist=17055) chr19 54827401 54827401 T C het . 3 +upstream LILRA4(dist=417) chr19 54850857 54850857 T C het . 3 +upstream LILRA4(dist=445) chr19 54850885 54850886 CT AC het . 3 +intergenic LILRA4(dist=6666),LAIR1(dist=8127) chr19 54857106 54857106 T C het . 2 +intergenic LILRA4(dist=6673),LAIR1(dist=8120) chr19 54857113 54857113 C G het . 2 +intergenic LILRA4(dist=9283),LAIR1(dist=5510) chr19 54859723 54859723 C T het . 2 +intergenic LILRA4(dist=11117),LAIR1(dist=3676) chr19 54861557 54861557 A T het . 2 +intergenic LAIR1(dist=28136),TTYH1(dist=16306) chr19 54910299 54910299 T C het . 3 +intronic TTYH1 chr19 54934021 54934021 T C het . 4 +downstream TTYH1(dist=306) chr19 54948205 54948206 TA - het . 2 +intronic LENG8 chr19 54962374 54962374 A G het . 2 +UTR5 LENG8(NM_052925:c.-55G>A) chr19 54962467 54962467 G A het . 4 +intronic LENG8 chr19 54962579 54962579 C T het . 6 +intronic LENG8 chr19 54963814 54963815 CT - het . 7 +exonic LENG8 chr19 54966579 54966579 C G het . 22 +intronic LENG8 chr19 54971229 54971229 T C het . 6 +exonic LENG9 chr19 54973989 54973991 CCT - het . 28 +exonic LENG9 chr19 54974318 54974318 T C het . 14 +intronic CDC42EP5 chr19 54979718 54979718 C T het . 2 +intronic LAIR2 chr19 55014674 55014674 - CAA het . 21 +intronic LAIR2 chr19 55019402 55019402 A G het . 5 +intergenic LAIR2(dist=15871),KIR3DX1(dist=6138) chr19 55037771 55037771 G A het . 2 +ncRNA_intronic KIR3DX1 chr19 55044229 55044230 TC - het . 5 +ncRNA_exonic KIR3DX1 chr19 55048270 55048270 C T het . 28 +ncRNA_intronic KIR3DX1 chr19 55049332 55049332 G C het . 3 +ncRNA_intronic KIR3DX1 chr19 55053911 55053911 G C het . 4 +intergenic KIR3DX1(dist=10830),LILRA2(dist=16610) chr19 55067854 55067854 G A het . 1 +intronic LILRA2 chr19 55084966 55084966 A G het . 4 +intronic LILRA2 chr19 55084982 55084982 A G het . 3 +UTR5 LILRA2(NM_006866:c.-42G>A,NM_001290271:c.-42G>A,NM_001290270:c.-42G>A,NM_001130917:c.-42G>A) chr19 55085304 55085304 G A het . 6 +exonic LILRA2 chr19 55085925 55085925 T G het . 28 +exonic LILRA2 chr19 55086775 55086775 C T het . 9 +exonic LILRA2 chr19 55087313 55087313 T G het . 8 +exonic LILRA1 chr19 55105923 55105923 C A het . 13 +exonic LILRA1 chr19 55106317 55106317 A G het . 19 +exonic LILRA1 chr19 55106663 55106663 A G het . 20 +exonic LILRA1 chr19 55106773 55106773 G A het . 14 +exonic LILRA1 chr19 55107854 55107854 G T het . 22 +UTR3 LILRA1(NM_001278318:c.*14G>A,NM_006863:c.*14G>A) chr19 55112296 55112296 G A het . 17 +exonic LILRB1 chr19 55143491 55143491 G T het . 10 +exonic LILRB1 chr19 55143982 55143982 T C het . 6 +exonic LILRB1 chr19 55144623 55144623 C T het . 34 +exonic LILRB1 chr19 55144684 55144684 G A het . 21 +exonic LILRB1 chr19 55145093 55145093 G C het . 8 +exonic LILRB1 chr19 55145454 55145454 G A het . 5 +UTR3 LILRB1(NM_001278399:c.*1C>G) chr19 55145481 55145481 C G het . 6 +intronic LILRB1 chr19 55146845 55146845 G T het . 6 +intronic LILRB1 chr19 55146853 55146853 T C het . 5 +intronic LILRB1 chr19 55147509 55147509 C T het . 7 +exonic LILRB1 chr19 55148242 55148242 C T het . 8 +exonic LILRB1 chr19 55148299 55148299 C A het . 10 +UTR3 LILRB1(NM_006669:c.*2C>T,NM_001081638:c.*2C>T,NM_001081639:c.*2C>T,NM_001081637:c.*2C>T,NM_001278398:c.*2C>T) chr19 55148331 55148331 C T het . 6 +intergenic LILRB1(dist=6117),MIR8061(dist=1662) chr19 55155098 55155098 C T het . 2 +intergenic LILRB1(dist=6124),MIR8061(dist=1655) chr19 55155105 55155105 G - het . 2 +intergenic MIR8061(dist=1022),LILRB4(dist=16415) chr19 55157856 55157856 G A het . 2 +exonic LILRB4 chr19 55174498 55174498 T C het . 8 +exonic LILRB4 chr19 55175740 55175740 C T het . 15 +exonic LILRB4 chr19 55176262 55176262 A G het . 5 +exonic LILRB4 chr19 55179364 55179364 A G het . 15 +intergenic LILRB4(dist=25243),LILRP2(dist=12647) chr19 55207053 55207053 T G het . 2 +intergenic LILRB4(dist=26990),LILRP2(dist=10900) chr19 55208800 55208800 G A het . 4 +intergenic LILRB4(dist=27385),LILRP2(dist=10505) chr19 55209195 55209195 C A het . 9 +intergenic LILRB4(dist=27503),LILRP2(dist=10387) chr19 55209313 55209313 G C het . 7 +ncRNA_exonic LILRP2 chr19 55224692 55224692 T C het . 17 +ncRNA_exonic LILRP2 chr19 55224785 55224785 G A het . 5 +intergenic LILRP2(dist=2232),KIR3DL3(dist=8765) chr19 55227187 55227187 G A het . 3 +exonic KIR2DL3 chr19 55263126 55263126 G C het . 17 +intergenic KIR2DL3(dist=14042),LOC101928804(dist=2328) chr19 55278546 55278546 G A het . 11 +exonic KIR3DL1 chr19 55329892 55329892 A G het . 11 +exonic KIR3DL1 chr19 55331419 55331419 C T het . 4 +intronic KIR3DL1 chr19 55340643 55340643 G C het . 3 +intronic KIR3DL1 chr19 55340685 55340685 A G het . 4 +intronic KIR3DL1 chr19 55340773 55340773 A T het . 12 +exonic KIR3DL1 chr19 55340906 55340906 G A het . 21 +intronic KIR3DL1 chr19 55340933 55340933 G C het . 23 +intronic KIR3DL1 chr19 55341460 55341460 G A het . 12 +UTR3 KIR3DL1(NM_001322168:c.*102G>C,NM_013289:c.*102G>C) chr19 55341832 55341832 G C het . 7 +intronic KIR2DS4 chr19 55346409 55346409 T A het . 9 +exonic KIR2DS4 chr19 55349031 55349031 G A het . 7 +exonic KIR2DS4 chr19 55349273 55349273 C A het . 13 +exonic KIR2DS4 chr19 55350979 55350979 A G het . 19 +intronic FCAR chr19 55386890 55386890 A G het . 5 +intronic FCAR chr19 55386920 55386920 A G het . 4 +intronic FCAR chr19 55396613 55396613 G A het . 7 +exonic FCAR chr19 55396900 55396900 A G het . 10 +intronic FCAR chr19 55398235 55398235 T C het . 2 +intronic FCAR chr19 55399010 55399010 G A het . 2 +exonic FCAR chr19 55401170 55401170 A G het . 12 +downstream NLRP7(dist=650) chr19 55434227 55434227 C G het . 2 +intronic NLRP7 chr19 55438850 55438850 A G het . 6 +intronic NLRP7 chr19 55438941 55438944 AAAC - het . 33 +intronic NLRP7 chr19 55439166 55439166 T C het . 19 +intronic NLRP7 chr19 55439197 55439197 A C het . 10 +exonic NLRP7 chr19 55441902 55441902 T C het . 26 +exonic NLRP7 chr19 55441995 55441995 A G het . 25 +intronic NLRP7 chr19 55445775 55445775 - C het . 12 +intronic NLRP7 chr19 55447572 55447572 A G het . 15 +intronic NLRP7 chr19 55449755 55449755 G A het . 5 +exonic NLRP7 chr19 55450696 55450696 G A het . 19 +exonic NLRP7 chr19 55450727 55450727 C T het . 11 +exonic NLRP7 chr19 55451797 55451797 C T het . 38 +intronic NLRP7 chr19 55451890 55451890 T C het . 24 +intronic NLRP7 chr19 55451945 55451945 G A het . 10 +intronic NLRP7 chr19 55458673 55458673 C A het . 5 +intronic NLRP7 chr19 55458816 55458816 G A het . 15 +intergenic NLRP7(dist=7541),NLRP2(dist=10233) chr19 55466414 55466414 G C het . 2 +intergenic NLRP7(dist=9022),NLRP2(dist=8752) chr19 55467895 55467895 - A het . 2 +intronic NLRP2 chr19 55481320 55481320 G C het . 10 +intronic NLRP2 chr19 55481669 55481669 T C het . 15 +intronic NLRP2 chr19 55485173 55485173 G A het . 10 +intronic NLRP2 chr19 55485786 55485786 G A het . 25 +intronic NLRP2 chr19 55488180 55488180 C T het . 4 +intronic NLRP2 chr19 55488287 55488287 A G het . 7 +exonic NLRP2 chr19 55493651 55493651 C T het . 4 +exonic NLRP2 chr19 55494126 55494126 A G het . 6 +exonic NLRP2 chr19 55494632 55494632 A G het . 16 +exonic NLRP2 chr19 55494740 55494740 T C het . 21 +intronic NLRP2 chr19 55495106 55495106 G A het . 28 +intronic NLRP2 chr19 55497855 55497855 A G het . 9 +intronic NLRP2 chr19 55501349 55501349 A - het . 17 +intronic NLRP2 chr19 55501579 55501579 A C het . 31 +intronic NLRP2 chr19 55505557 55505557 C T het . 17 +intronic NLRP2 chr19 55507735 55507735 A G het . 2 +intronic NLRP2 chr19 55511927 55511927 G A het . 3 +exonic NLRP2 chr19 55512137 55512137 C A het . 35 +exonic NLRP2 chr19 55512232 55512232 C A het . 33 +UTR3 NLRP2(NM_001174081:c.*50T>G,NM_017852:c.*50T>G,NM_001348003:c.*50T>G,NM_001174082:c.*50T>G,NM_001174083:c.*50T>G) chr19 55512316 55512316 T G het . 18 +UTR3 NLRP2(NM_001174081:c.*81G>C,NM_017852:c.*81G>C,NM_001348003:c.*81G>C,NM_001174082:c.*81G>C,NM_001174083:c.*81G>C) chr19 55512347 55512347 G C het . 9 +downstream NLRP2(dist=643) chr19 55513153 55513153 T - het . 2 +downstream GP6(dist=632) chr19 55524443 55524443 T C het . 3 +downstream GP6(dist=571) chr19 55524504 55524504 C G het . 2 +UTR3 GP6(NM_001083899:c.*62C>A,NM_001256017:c.*901C>A,NM_016363:c.*901C>A) chr19 55525388 55525388 G T het . 7 +exonic GP6 chr19 55525497 55525497 A G het . 15 +exonic GP6 chr19 55525596 55525596 T C het . 23 +exonic GP6 chr19 55525894 55525894 G A het . 18 +exonic GP6 chr19 55526345 55526345 T G het . 15 +exonic GP6 chr19 55526359 55526359 A T het . 14 +exonic GP6 chr19 55526373 55526373 G C het . 12 +exonic GP6 chr19 55527081 55527081 C T het . 24 +intronic GP6 chr19 55527189 55527189 G T het . 8 +intronic GP6 chr19 55529933 55529933 A G het . 13 +exonic GP6 chr19 55530035 55530035 C T het . 34 +intronic GP6 chr19 55535112 55535112 T C het . 2 +exonic GP6 chr19 55536595 55536595 G A het . 30 +intronic GP6 chr19 55536884 55536884 G A het . 2 +exonic GP6 chr19 55538980 55538980 T C het . 10 +exonic GP6 chr19 55539061 55539061 A G het . 14 +exonic GP6 chr19 55539072 55539072 T G het . 12 +exonic RDH13 chr19 55559715 55559715 G A het . 19 +intronic RDH13 chr19 55564313 55564313 - GCCACCAC het . 2 +intronic RDH13 chr19 55565834 55565834 C T het . 3 +intronic RDH13 chr19 55568236 55568236 A G het . 4 +exonic RDH13 chr19 55570574 55570574 A G het . 17 +UTR5 RDH13(NM_001145971:c.-30_-29insGGACGCC) chr19 55574429 55574429 - GGCGTCC het . 2 +exonic EPS8L1 chr19 55587822 55587822 G A het . 4 +intronic EPS8L1 chr19 55589544 55589544 G A het . 5 +intronic EPS8L1 chr19 55593417 55593417 C T het . 14 +exonic EPS8L1 chr19 55594996 55594996 C G het . 8 +exonic EPS8L1 chr19 55598724 55598724 A G het . 7 +intronic PPP1R12C chr19 55615949 55615949 T C het . 2 +intronic PPP1R12C chr19 55619755 55619755 A G het . 2 +exonic TNNT1 chr19 55644325 55644325 A C het . 27 +UTR5 TNNT1(NM_003283:c.-2012A>G,NM_001291774:c.-2012A>G,NM_001126133:c.-2012A>G,NM_001126132:c.-2012A>G) chr19 55660537 55660537 T C het . 18 +intronic TNNI3 chr19 55663455 55663455 C T het . 5 +exonic TNNI3 chr19 55665410 55665410 C T het . 23 +intronic TNNI3 chr19 55665584 55665584 A C het . 15 +intronic TNNI3 chr19 55667879 55667879 A C het . 3 +intronic TNNI3 chr19 55667889 55667889 A C het . 7 +intronic TNNI3 chr19 55668310 55668310 C G het . 7 +intronic TNNI3 chr19 55668397 55668397 C T het . 18 +intronic TNNI3 chr19 55668509 55668509 A T het . 22 +intronic TNNI3 chr19 55668722 55668722 - CTGT het . 5 +intronic DNAAF3 chr19 55670825 55670825 T C het . 8 +exonic DNAAF3 chr19 55671337 55671337 C T het . 17 +exonic DNAAF3 chr19 55671374 55671374 C T het . 7 +exonic DNAAF3 chr19 55672470 55672470 T C het . 25 +intronic DNAAF3 chr19 55675476 55675476 C T het . 2 +intronic DNAAF3 chr19 55677523 55677523 C T het . 13 +exonic PTPRH chr19 55693244 55693244 T C het . 21 +exonic PTPRH chr19 55697236 55697236 G A het . 9 +exonic PTPRH chr19 55699454 55699454 T C het . 14 +intronic PTPRH chr19 55699575 55699575 T C het . 14 +exonic PTPRH chr19 55702910 55702910 C A het . 23 +intronic PTPRH chr19 55703237 55703237 - G het . 11 +intronic PTPRH chr19 55703327 55703329 CCT - het . 4 +exonic PTPRH chr19 55708557 55708557 A G het . 17 +exonic PTPRH chr19 55716800 55716800 A G het . 11 +intergenic PTPRH(dist=11700),TMEM86B(dist=5428) chr19 55732574 55732574 - AC het . 2 +exonic TMEM86B chr19 55738746 55738746 G A het . 5 +exonic TMEM86B chr19 55739605 55739605 C T het . 11 +exonic TMEM86B chr19 55739689 55739689 G A het . 29 +intronic TMEM86B chr19 55739813 55739813 G A het . 8 +intronic PPP6R1 chr19 55741961 55741961 G C het . 11 +intronic PPP6R1 chr19 55751123 55751123 G A het . 3 +exonic PPP6R1 chr19 55756980 55756980 A G het . 19 +exonic HSPBP1 chr19 55790886 55790886 - GCCGCCGCC het . 11 +exonic HSPBP1 chr19 55791091 55791091 C T het . 13 +intronic BRSK1 chr19 55800789 55800789 C G het . 2 +intronic BRSK1 chr19 55815894 55815894 T C het . 5 +intronic BRSK1 chr19 55816678 55816678 C T het . 13 +intronic BRSK1 chr19 55816969 55816969 T G het . 19 +intronic BRSK1 chr19 55819845 55819845 C T het . 5 +exonic BRSK1 chr19 55820079 55820079 C T het . 10 +exonic TMEM150B chr19 55824332 55824332 T G het . 13 +intronic TMEM150B chr19 55831188 55831188 A G het . 1 +intronic TMEM150B chr19 55831576 55831577 AA CC het . 6 +intronic TMEM150B chr19 55831589 55831589 A G het . 5 +UTR5 TMEM150B(NM_001282011:c.-23A>C) chr19 55832427 55832427 T G het . 7 +intergenic TMEM150B(dist=3884),KMT5C(dist=10629) chr19 55840592 55840592 A G het . 1 +intergenic TMEM150B(dist=5337),KMT5C(dist=9176) chr19 55842045 55842045 T C het . 2 +intronic KMT5C chr19 55856083 55856083 T C het . 4 +intronic KMT5C chr19 55856211 55856211 C T het . 7 +intronic COX6B2 chr19 55865350 55865350 G A het . 9 +exonic FAM71E2 chr19 55870104 55870104 G C het . 6 +exonic FAM71E2 chr19 55870289 55870289 C T het . 8 +exonic FAM71E2 chr19 55870351 55870351 T C het . 20 +exonic FAM71E2 chr19 55870600 55870600 C G het . 10 +exonic FAM71E2 chr19 55871019 55871019 A G het . 14 +intronic FAM71E2 chr19 55872191 55872191 G A het . 3 +exonic FAM71E2 chr19 55872397 55872397 A G het . 16 +intronic FAM71E2 chr19 55872531 55872531 C G het . 9 +exonic FAM71E2 chr19 55872566 55872566 A G het . 15 +exonic FAM71E2 chr19 55873642 55873642 C T het . 2 +exonic IL11 chr19 55879672 55879672 C T het . 16 +exonic IL11 chr19 55879872 55879872 C T het . 4 +exonic RPL28 chr19 55914374 55914374 C T het . 13 +intronic ISOC2 chr19 55966346 55966346 C T het . 4 +intronic ISOC2 chr19 55966951 55966951 A C het . 2 +intronic ISOC2 chr19 55966971 55966971 C T het . 2 +intronic ZNF628 chr19 55989123 55989123 T C het . 3 +exonic ZNF628 chr19 55993260 55993260 A G het . 6 +exonic ZNF628 chr19 55993790 55993790 A G het . 7 +intronic NAT14 chr19 55996939 55996939 G A het . 2 +intronic SSC5D chr19 55999993 55999993 A G het . 18 +exonic SSC5D chr19 56000896 56000896 G T het . 2 +intronic SSC5D chr19 56001871 56001871 C T het . 2 +exonic SSC5D chr19 56011460 56011460 C T het . 24 +intronic SSC5D chr19 56015448 56015448 C T het . 9 +intronic SSC5D chr19 56017647 56017647 T C het . 3 +exonic SSC5D chr19 56024519 56024519 T C het . 2 +intronic SSC5D chr19 56024563 56024563 G C het . 2 +intronic SSC5D chr19 56027098 56027098 - A het . 2 +exonic SSC5D chr19 56029465 56029465 G A het . 7 +intergenic SSC5D(dist=5671),SBK2(dist=4963) chr19 56036137 56036137 T C het . 3 +intergenic SSC5D(dist=6150),SBK2(dist=4484) chr19 56036616 56036616 C A het . 2 +downstream SBK2(dist=53) chr19 56041046 56041047 GC AA het . 4 +exonic SBK2 chr19 56041255 56041255 C G het . 3 +exonic;splicing SBK3;SBK3(NM_001199824:exon4:c.954+1->G) chr19 56052337 56052337 - C het . 7 +exonic SBK3 chr19 56052770 56052770 C T het . 12 +exonic SBK3 chr19 56056184 56056184 A G het . 3 +intergenic SBK3(dist=10368),ZNF579(dist=21614) chr19 56067277 56067277 C T het . 2 +intergenic SBK3(dist=14884),ZNF579(dist=17098) chr19 56071793 56071793 C A het . 3 +exonic ZNF579 chr19 56089353 56089353 C T het . 22 +exonic ZNF579 chr19 56090493 56090493 A C het . 17 +exonic FIZ1 chr19 56104136 56104136 T C het . 16 +intronic ZNF524 chr19 56111892 56111892 C A het . 2 +exonic ZNF524 chr19 56114237 56114237 G A het . 6 +exonic ZNF784 chr19 56133524 56133526 CCG - het . 8 +UTR5 CCDC106(NM_013301:c.-14T>C) chr19 56160399 56160399 T C het . 14 +exonic CCDC106 chr19 56162776 56162776 C T het . 6 +intronic U2AF2 chr19 56170771 56170771 G A het . 2 +intronic U2AF2 chr19 56171994 56171994 C A het . 4 +intronic U2AF2 chr19 56175149 56175149 G A het . 5 +intronic U2AF2 chr19 56177696 56177696 C T het . 2 +exonic U2AF2 chr19 56180968 56180968 C T het . 18 +intronic U2AF2 chr19 56185250 56185250 G A het . 2 +exonic EPN1 chr19 56189987 56189987 G A het . 18 +exonic NLRP9 chr19 56241265 56241265 A G het . 24 +intergenic RFPL4AL1(dist=4506),NLRP11(dist=7712) chr19 56289051 56289051 G A het . 17 +intergenic RFPL4AL1(dist=10702),NLRP11(dist=1516) chr19 56295247 56295247 A T het . 2 +exonic NLRP11 chr19 56307583 56307583 A G het . 17 +intronic NLRP11 chr19 56307679 56307679 - A het . 4 +intronic NLRP11 chr19 56307723 56307723 T C het . 5 +exonic NLRP11 chr19 56321414 56321414 C A het . 24 +intronic NLRP11 chr19 56331746 56331746 G T het . 2 +intronic NLRP11 chr19 56331905 56331905 T G het . 2 +intronic NLRP11 chr19 56331935 56331935 A G het . 2 +exonic NLRP4 chr19 56369314 56369314 G A het . 17 +intronic NLRP4 chr19 56370685 56370685 G A het . 4 +intronic NLRP4 chr19 56380744 56380744 T C het . 4 +intronic NLRP4 chr19 56380750 56380750 A - het . 4 +intronic NLRP4 chr19 56381275 56381275 T C het . 3 +exonic NLRP4 chr19 56390237 56390237 A T het . 9 +exonic NLRP4 chr19 56392875 56392875 T G het . 20 +exonic NLRP13 chr19 56410222 56410222 C T het . 22 +intronic NLRP13 chr19 56410340 56410340 T G het . 7 +intronic NLRP13 chr19 56413583 56413583 A G het . 11 +intronic NLRP13 chr19 56413689 56413689 A T het . 3 +exonic NLRP13 chr19 56423668 56423668 G A het . 26 +exonic NLRP13 chr19 56423692 56423692 C T het . 20 +exonic NLRP13 chr19 56423728 56423728 A G het . 10 +exonic NLRP13 chr19 56423893 56423893 G A het . 16 +exonic NLRP13 chr19 56424443 56424443 T C het . 17 +exonic NLRP13 chr19 56424532 56424532 G A het . 22 +intronic NLRP13 chr19 56427290 56427290 C A het . 2 +intergenic NLRP13(dist=13196),NLRP8(dist=2300) chr19 56456898 56456898 G A het . 3 +exonic NLRP8 chr19 56459342 56459342 C T het . 9 +exonic NLRP8 chr19 56459614 56459614 G C het . 4 +intronic NLRP8 chr19 56464058 56464058 C G het . 4 +intronic NLRP8 chr19 56473142 56473142 C T het . 2 +exonic NLRP8 chr19 56473460 56473460 T C het . 12 +intronic NLRP8 chr19 56473645 56473645 A G het . 7 +exonic NLRP8 chr19 56477687 56477687 A G het . 17 +exonic NLRP8 chr19 56477710 56477710 T C het . 11 +intronic NLRP8 chr19 56483446 56483446 T C het . 2 +intronic NLRP8 chr19 56487430 56487430 G A het . 2 +intronic NLRP8 chr19 56487450 56487450 T G het . 5 +exonic NLRP8 chr19 56487603 56487603 A G het . 24 +exonic NLRP8 chr19 56490778 56490778 C T het . 17 +intronic NLRP8 chr19 56490943 56490943 C T het . 13 +exonic NLRP8 chr19 56499279 56499279 G C het . 15 +UTR3 NLRP8(NM_001317000:c.*58C>T,NM_176811:c.*58C>T) chr19 56499337 56499337 C T het . 7 +UTR3 NLRP8(NM_001317000:c.*66A>G,NM_176811:c.*66A>G) chr19 56499345 56499345 A G het . 6 +intergenic NLRP8(dist=3251),NLRP5(dist=7846) chr19 56503246 56503246 T C het . 2 +upstream NLRP5(dist=127) chr19 56510965 56510965 C T het . 8 +upstream NLRP5(dist=10) chr19 56511082 56511082 C G het . 14 +exonic NLRP5 chr19 56515334 56515334 C T het . 15 +intronic NLRP5 chr19 56520091 56520091 C T het . 16 +intronic NLRP5 chr19 56520129 56520129 G A het . 25 +intronic NLRP5 chr19 56520150 56520150 C G het . 29 +intronic NLRP5 chr19 56538203 56538203 C A het . 3 +exonic NLRP5 chr19 56538976 56538976 G C het . 15 +exonic NLRP5 chr19 56539240 56539240 C T het . 12 +exonic NLRP5 chr19 56539561 56539561 C T het . 11 +exonic NLRP5 chr19 56549510 56549510 T C het . 15 +exonic NLRP5 chr19 56549532 56549532 A G het . 10 +intronic NLRP5 chr19 56552230 56552230 A G het . 3 +intronic NLRP5 chr19 56552239 56552239 C A het . 3 +intronic NLRP5 chr19 56557798 56557798 C T het . 1 +intronic NLRP5 chr19 56561749 56561749 A G het . 3 +intronic NLRP5 chr19 56562657 56562657 T C het . 2 +intronic NLRP5 chr19 56562662 56562662 G A het . 2 +intronic NLRP5 chr19 56564949 56564949 G A het . 4 +exonic NLRP5 chr19 56565164 56565164 G A het . 11 +exonic NLRP5 chr19 56572832 56572832 G A het . 17 +ncRNA_exonic LINC01864 chr19 56589690 56589690 G A het . 2 +intergenic LINC01864(dist=5567),ZNF787(dist=2996) chr19 56595733 56595733 T C het . 1 +downstream ZNF787(dist=978) chr19 56597751 56597751 C G het . 2 +intronic ZNF787 chr19 56605454 56605454 A G het . 2 +exonic ZNF787 chr19 56614401 56614401 C T het . 8 +intronic ZNF787 chr19 56629389 56629389 G T het . 2 +intergenic ZNF787(dist=10784),ZNF444(dist=9009) chr19 56643526 56643526 T C het . 3 +intergenic ZNF787(dist=12508),ZNF444(dist=7285) chr19 56645250 56645250 G A het . 2 +intergenic ZNF787(dist=16075),ZNF444(dist=3718) chr19 56648817 56648817 T C het . 2 +intergenic ZNF787(dist=16759),ZNF444(dist=3034) chr19 56649501 56649501 C A het . 1 +intergenic ZNF787(dist=18214),ZNF444(dist=1579) chr19 56650956 56650956 G T het . 2 +intergenic ZNF444(dist=11990),GALP(dist=3137) chr19 56684252 56684252 T C het . 4 +intronic GALP chr19 56688669 56688669 A G het . 4 +intronic GALP chr19 56691912 56691912 G C het . 7 +exonic GALP chr19 56693620 56693620 C G het . 8 +intronic GALP chr19 56693643 56693643 T C het . 5 +exonic ZSCAN5B chr19 56702323 56702323 C T het . 14 +upstream ZSCAN5B(dist=860) chr19 56705281 56705281 A G het . 3 +exonic ZSCAN5C chr19 56717353 56717353 A G het . 10 +exonic ZSCAN5C chr19 56718585 56718585 A G het . 13 +exonic ZSCAN5C chr19 56719405 56719405 A C het . 10 +intergenic ZSCAN5C(dist=1831),ZSCAN5A(dist=10269) chr19 56722400 56722403 TTTG - het . 2 +intergenic ZSCAN5C(dist=2293),ZSCAN5A(dist=9810) chr19 56722862 56722862 T C het . 2 +intergenic ZSCAN5C(dist=4706),ZSCAN5A(dist=7397) chr19 56725275 56725275 C T het . 2 +intergenic ZSCAN5C(dist=6515),ZSCAN5A(dist=5588) chr19 56727084 56727084 T C het . 2 +intergenic ZSCAN5C(dist=7388),ZSCAN5A(dist=4715) chr19 56727957 56727957 C T het . 3 +intergenic ZSCAN5C(dist=8036),ZSCAN5A(dist=4067) chr19 56728605 56728605 G A het . 5 +exonic ZSCAN5A chr19 56733425 56733425 C A het . 26 +intronic ZSCAN5A chr19 56746272 56746272 T C het . 2 +intronic ZSCAN5A chr19 56755560 56755560 T A het . 10 +intronic ZSCAN5A chr19 56758220 56758220 G A het . 7 +intronic ZSCAN5A chr19 56759067 56759067 - TTTAT het . 2 +intronic EDDM13,ZSCAN5A chr19 56792660 56792660 G C het . 2 +intronic ZSCAN5A chr19 56827751 56827751 A T het . 3 +intronic ZSCAN5A chr19 56827938 56827938 C A het . 5 +intronic ZSCAN5A chr19 56831508 56831508 G A het . 17 +intronic ZSCAN5A chr19 56832040 56832040 G A het . 6 +intronic ZSCAN5A chr19 56863358 56863358 G A het . 2 +intronic ZSCAN5A chr19 56872267 56872267 T C het . 3 +intronic ZSCAN5A chr19 56878476 56878476 C T het . 2 +ncRNA_exonic ZNF542P chr19 56888454 56888454 A C het . 19 +exonic ZNF582 chr19 56895496 56895496 C T het . 11 +intronic ZNF582 chr19 56896587 56896587 - T het . 9 +intronic ZNF582 chr19 56896597 56896597 C T het . 10 +intronic ZNF582 chr19 56904510 56904511 AA - het . 10 +intronic ZNF583 chr19 56918560 56918560 T A het . 16 +intronic ZNF583 chr19 56918574 56918574 T C het . 16 +intronic ZNF583 chr19 56918598 56918598 T C het . 15 +intronic ZNF583 chr19 56918661 56918661 T G het . 10 +exonic ZNF583 chr19 56935527 56935527 A G het . 12 +exonic ZNF667 chr19 56953585 56953585 T C het . 40 +exonic ZNF667 chr19 56953863 56953863 T C het . 22 +exonic ZNF667 chr19 56953963 56953963 G A het . 30 +intronic ZNF667 chr19 56960809 56960809 C T het . 3 +intronic ZNF667 chr19 56971074 56971075 AA - het . 2 +intronic ZNF667 chr19 56978344 56978344 G T het . 13 +intronic ZNF667 chr19 56981382 56981382 T C het . 13 +ncRNA_intronic ZNF667-AS1 chr19 57002306 57002306 G T het . 2 +ncRNA_exonic ZNF667-AS1 chr19 57006415 57006415 A G het . 7 +upstream ZNF471(dist=951) chr19 57018261 57018261 T A het . 2 +intronic ZNF471 chr19 57023026 57023027 TT - het . 12 +intronic ZNF471 chr19 57027606 57027606 C T het . 10 +intronic ZNF471 chr19 57029837 57029837 T G het . 16 +intronic ZNF471 chr19 57035672 57035672 - T het . 4 +exonic ZNF471 chr19 57036653 57036653 G A het . 24 +exonic ZNF471 chr19 57036678 57036678 G A het . 24 +exonic ZFP28 chr19 57050515 57050515 C G het . 22 +intronic ZFP28 chr19 57054495 57054495 T C het . 3 +exonic ZFP28 chr19 57058998 57058998 C G het . 5 +intronic ZFP28 chr19 57060573 57060573 C T het . 3 +intronic ZFP28 chr19 57060606 57060606 G A het . 3 +exonic ZFP28 chr19 57062073 57062073 T C het . 8 +exonic ZNF470 chr19 57088850 57088850 T C het . 17 +exonic ZNF470 chr19 57089050 57089050 C T het . 14 +intergenic ZNF470(dist=9704),ZNF71(dist=2698) chr19 57103966 57103966 - A het . 2 +intronic ZNF71 chr19 57111885 57111885 A C het . 2 +intronic ZNF71 chr19 57118420 57118420 T G het . 2 +intronic ZNF71 chr19 57122512 57122512 G A het . 2 +intergenic SMIM17(dist=1447),ZNF835(dist=3959) chr19 57170061 57170061 - AAAGAAG het . 2 +exonic ZNF835 chr19 57175484 57175484 A G het . 4 +exonic ZNF835 chr19 57176198 57176198 T G het . 13 +exonic ZNF835 chr19 57176304 57176304 T G het . 17 +exonic ZNF835 chr19 57176482 57176482 C T het . 18 +intronic ZNF835 chr19 57176820 57176820 C A het . 10 +intronic ZNF835 chr19 57176838 57176838 C G het . 4 +intronic ZNF835 chr19 57177221 57177221 G A het . 2 +intronic ZNF835 chr19 57177252 57177252 C T het . 2 +intergenic ZNF835(dist=10890),ZIM2-AS1(dist=82677) chr19 57194013 57194013 C A het . 2 +intergenic ZNF835(dist=15934),ZIM2-AS1(dist=77633) chr19 57199057 57199057 T C het . 2 +intergenic ZNF835(dist=54451),ZIM2-AS1(dist=39116) chr19 57237574 57237574 T G het . 2 +intergenic ZNF835(dist=58956),ZIM2-AS1(dist=34611) chr19 57242079 57242079 T C het . 2 +ncRNA_intronic ZIM2-AS1 chr19 57278083 57278083 A G het . 2 +ncRNA_intronic ZIM2-AS1 chr19 57279779 57279779 A T het . 2 +ncRNA_intronic ZIM2-AS1 chr19 57279805 57279805 A T het . 2 +exonic ZIM2 chr19 57286170 57286171 TT - het . 26 +exonic ZIM2 chr19 57293394 57293394 A G het . 15 +ncRNA_intronic ZIM2-AS1 chr19 57293693 57293693 G T het . 4 +exonic PEG3 chr19 57327503 57327503 A G het . 12 +exonic PEG3 chr19 57328344 57328344 C A het . 29 +exonic PEG3,ZIM2 chr19 57335022 57335022 G A het . 19 +intergenic MIMT1(dist=7877),USP29(dist=263708) chr19 57367801 57367801 G T het . 2 +intergenic MIMT1(dist=9052),USP29(dist=262533) chr19 57368976 57368976 T C het . 2 +intergenic MIMT1(dist=93769),USP29(dist=177816) chr19 57453693 57453693 C A het . 2 +intergenic MIMT1(dist=109480),USP29(dist=162105) chr19 57469404 57469404 G A het . 1 +intergenic MIMT1(dist=147352),USP29(dist=124233) chr19 57507276 57507276 - TCG het . 4 +intergenic MIMT1(dist=192349),USP29(dist=79236) chr19 57552273 57552273 C G het . 2 +intergenic MIMT1(dist=213499),USP29(dist=58082) chr19 57573423 57573427 AAAGA - het . 3 +intergenic MIMT1(dist=240738),USP29(dist=30847) chr19 57600662 57600662 C A het . 2 +intergenic MIMT1(dist=255688),USP29(dist=15897) chr19 57615612 57615612 - GTTTT het . 2 +exonic USP29 chr19 57640664 57640664 G A het . 17 +exonic USP29 chr19 57640850 57640850 C A het . 35 +exonic USP29 chr19 57640878 57640878 C A het . 34 +exonic USP29 chr19 57641146 57641146 A G het . 19 +exonic USP29 chr19 57642782 57642782 C A het . 7 +exonic ZIM3 chr19 57647236 57647236 T C het . 34 +intronic ZIM3 chr19 57648028 57648028 C A het . 1 +intronic ZIM3 chr19 57648433 57648433 T C het . 4 +exonic ZIM3 chr19 57649962 57649962 C T het . 11 +intronic DUXA chr19 57665936 57665936 T - het . 7 +exonic ZNF264 chr19 57723007 57723007 G C het . 27 +exonic ZNF264 chr19 57723013 57723013 G A het . 27 +intronic AURKC chr19 57743039 57743039 T C het . 7 +intronic ZNF805 chr19 57752326 57752326 C G het . 14 +exonic ZNF805 chr19 57760018 57760018 G A het . 23 +exonic ZNF805 chr19 57760057 57760057 G A het . 12 +intronic ZNF805 chr19 57760216 57760216 G A het . 3 +intronic ZNF805 chr19 57763122 57763122 C T het . 2 +exonic ZNF805 chr19 57764770 57764770 G A het . 18 +ncRNA_intronic ZNF460-AS1 chr19 57787949 57787949 C T het . 11 +exonic ZNF460 chr19 57802298 57802298 C A het . 27 +intergenic ZNF460(dist=15281),ZNF543(dist=11148) chr19 57820717 57820717 C T het . 2 +intergenic ZNF460(dist=23085),ZNF543(dist=3344) chr19 57828521 57828521 - T het . 14 +intergenic ZNF460(dist=23299),ZNF543(dist=3130) chr19 57828735 57828735 G T het . 26 +intergenic ZNF460(dist=23460),ZNF543(dist=2969) chr19 57828896 57828896 C T het . 15 +UTR5 ZNF543(NM_213598:c.-133G>T) chr19 57832089 57832089 G T het . 2 +intronic ZNF543 chr19 57832257 57832257 T C het . 20 +intronic ZNF543 chr19 57834897 57834897 G C het . 7 +intronic ZNF543 chr19 57834963 57834963 C T het . 21 +intronic ZNF543 chr19 57837926 57837926 C A het . 2 +exonic ZNF543 chr19 57838018 57838018 C G het . 12 +intronic ZNF543 chr19 57838235 57838235 G - het . 2 +intronic ZNF543 chr19 57838239 57838239 C T het . 2 +intronic ZNF543 chr19 57838242 57838245 CCCA - het . 2 +exonic ZNF543 chr19 57839150 57839150 A G het . 15 +exonic ZNF543 chr19 57839567 57839567 T A het . 15 +exonic ZNF543 chr19 57840547 57840547 A G het . 12 +downstream ZNF543(dist=554) chr19 57842698 57842698 A G het . 2 +downstream ZNF543(dist=557) chr19 57842701 57842701 T - het . 2 +intergenic ZNF543(dist=6038),ZNF304(dist=14460) chr19 57848182 57848182 T - het . 5 +intergenic ZNF543(dist=6063),ZNF304(dist=14435) chr19 57848207 57848207 T C het . 4 +intergenic ZNF543(dist=8011),ZNF304(dist=12487) chr19 57850155 57850155 A C het . 2 +intergenic ZNF543(dist=8539),ZNF304(dist=11959) chr19 57850683 57850683 G A het . 9 +intronic ZNF304 chr19 57865082 57865082 T C het . 7 +exonic ZNF304 chr19 57868336 57868336 A G het . 19 +upstream TRAPPC2B,ZNF547(dist=83) chr19 57874720 57874720 G A het . 2 +intronic ZNF547 chr19 57877572 57877572 G T het . 2 +exonic ZNF547 chr19 57889072 57889072 G A het . 15 +UTR3 ZNF547(NM_173631:c.*447C>T) chr19 57890000 57890000 C T het . 4 +UTR3 ZNF547(NM_173631:c.*807T>C) chr19 57890360 57890360 T C het . 2 +UTR5 ZNF548(NM_152909:c.-46G>T,NM_001172773:c.-46G>T) chr19 57901422 57901422 G T het . 10 +exonic ZNF548 chr19 57909872 57909872 G A het . 27 +UTR5 ZNF17(NM_001330617:c.-2320T>C,NM_006959:c.-96T>C) chr19 57922664 57922664 T C het . 4 +intronic ZNF17 chr19 57927871 57927871 - T het . 5 +intronic ZNF17 chr19 57930256 57930256 T G het . 2 +exonic ZNF17 chr19 57931303 57931303 C A het . 21 +exonic ZNF17 chr19 57932027 57932027 C T het . 20 +downstream ZNF17(dist=31) chr19 57933338 57933338 T G het . 2 +downstream ZNF17(dist=34) chr19 57933341 57933341 T G het . 2 +intronic ZNF749 chr19 57953121 57953121 C T het . 3 +intronic ZNF749 chr19 57954619 57954619 G A het . 2 +intronic ZNF749 chr19 57954628 57954628 G A het . 2 +exonic ZNF749 chr19 57956828 57956828 T G het . 5 +exonic VN1R1 chr19 57967049 57967049 G T het . 14 +exonic VN1R1 chr19 57967133 57967133 G A het . 10 +intergenic VN1R1(dist=8694),ZNF772(dist=4153) chr19 57976801 57976801 A G het . 2 +intergenic VN1R1(dist=8754),ZNF772(dist=4092) chr19 57976861 57976862 CA TG het . 2 +UTR3 ZNF772(NM_001330613:c.*1185T>C,NM_001144068:c.*1185T>C,NM_001024596:c.*1185T>C) chr19 57983457 57983457 A G het . 12 +exonic ZNF772 chr19 57984918 57984918 A G het . 18 +exonic ZNF772 chr19 57985460 57985460 T A het . 13 +exonic ZNF772 chr19 57985566 57985566 G C het . 11 +exonic ZNF772 chr19 57988666 57988666 - GCC het . 5 +UTR5 ZNF419(NM_001098494:c.-137A>G,NM_001098493:c.-137A>G,NM_001098492:c.-137A>G,NM_001098491:c.-137A>G,NM_024691:c.-137A>G,NM_001291745:c.-137A>G,NM_001291744:c.-3750A>G,NM_001098496:c.-137A>G,NM_001098495:c.-137A>G,NM_001291743:c.-137A>G) chr19 57999182 57999182 A G het . 6 +UTR5 ZNF419(NM_001291744:c.-1420T>A) chr19 58001512 58001512 T A het . 12 +splicing ZNF419(NM_001098493:exon3:c.259+1A>G,NM_001098492:exon3:c.262+1A>G,NM_001098491:exon4:c.301+1A>G,NM_024691:exon4:c.298+1A>G,NM_001291745:exon3:c.262+1A>G) chr19 58003580 58003580 A G het . 19 +intronic ZNF419 chr19 58003613 58003613 C T het . 12 +intronic ZNF419 chr19 58003728 58003728 G A het . 8 +intronic ZNF419 chr19 58003873 58003873 C T het . 7 +intronic ZNF419 chr19 58004158 58004158 C T het . 13 +exonic ZNF419 chr19 58004346 58004346 G C het . 20 +UTR5 ZNF773(NM_001304337:c.-2C>T,NM_001304335:c.-2C>T,NM_001304334:c.-2C>T,NM_001304336:c.-2C>T,NM_198542:c.-2C>T) chr19 58011447 58011447 C T het . 7 +intronic ZNF773 chr19 58015981 58015981 C T het . 4 +exonic ZNF773 chr19 58017753 58017754 CA AG het . 8 +exonic ZNF773 chr19 58017758 58017758 G C het . 8 +exonic ZNF773 chr19 58018618 58018618 A G het . 17 +UTR3 ZNF773(NM_001304334:c.*56A>G,NM_001304336:c.*1069A>G,NM_198542:c.*56A>G) chr19 58018848 58018848 A G het . 4 +intronic ZNF773 chr19 58019762 58019762 C T het . 9 +intronic ZNF773 chr19 58019786 58019786 C G het . 13 +exonic ZNF773 chr19 58019892 58019892 G A het . 20 +intronic ZNF773 chr19 58020080 58020088 CATTTTAAC - het . 5 +intronic ZNF773 chr19 58020143 58020143 G C het . 2 +intronic ZNF773 chr19 58024328 58024328 T C het . 8 +UTR3 ZNF773(NM_001304337:c.*6G>A,NM_001304335:c.*6G>A) chr19 58024442 58024442 G A het . 5 +downstream ZNF773(dist=266) chr19 58024785 58024785 T G het . 2 +exonic ZNF549 chr19 58038964 58038964 T A het . 14 +intronic ZNF549 chr19 58042590 58042590 C A het . 9 +exonic ZNF550 chr19 58058536 58058536 A G het . 8 +exonic ZNF550 chr19 58058739 58058739 T C het . 13 +exonic ZNF550 chr19 58059241 58059241 C A het . 36 +intronic ZNF416 chr19 58089521 58089521 G C het . 6 +exonic ZNF530 chr19 58117223 58117223 T A het . 19 +UTR3 ZNF530(NM_001321981:c.*23delT,NM_020880:c.*23delT) chr19 58118716 58118716 T - het . 3 +UTR5 ZNF134(NM_003435:c.-5231C>T) chr19 58125606 58125606 C T het . 7 +intronic ZNF211 chr19 58144874 58144874 C T het . 4 +exonic ZNF211 chr19 58151339 58151339 G - het . 17 +intergenic ZNF211(dist=8325),ZSCAN4(dist=16564) chr19 58163739 58163739 C G het . 2 +intronic ZSCAN4 chr19 58183056 58183056 T A het . 2 +UTR3 ZNF154(NM_001085384:c.*2228G>T) chr19 58210775 58210775 C A het . 3 +UTR3 ZNF154(NM_001085384:c.*2195C>T) chr19 58210808 58210808 G A het . 8 +exonic ZNF154 chr19 58213952 58213952 C A het . 21 +UTR3 ZNF671(NM_001321375:c.*42T>C,NM_001321376:c.*42T>C,NM_024833:c.*42T>C) chr19 58231807 58231807 A G het . 2 +intronic ZNF776 chr19 58258466 58258466 G T het . 22 +intronic ZNF776 chr19 58258589 58258589 G A het . 4 +UTR3 ZNF776(NM_173632:c.*137C>T) chr19 58266192 58266192 C T het . 4 +UTR5 ZNF586(NM_001204814:c.-6812_-6811insC,NM_017652:c.-19_-18insC,NM_001077426:c.-19_-18insC) chr19 58281192 58281192 - C het . 6 +UTR3 ZNF586(NM_001204814:c.*64A>G,NM_017652:c.*64A>G,NM_001077426:c.*513A>G) chr19 58291228 58291228 A G het . 8 +intergenic ZNF586(dist=9619),ZNF552(dist=16846) chr19 58301603 58301604 AG - het . 6 +intronic ZNF552 chr19 58326001 58326001 A G het . 9 +intronic ZNF587B chr19 58343275 58343275 T C het . 2 +intronic ZNF587 chr19 58361549 58361549 A G het . 9 +UTR3 ZNF814(NM_001144989:c.*269G>A) chr19 58383921 58383921 C T het . 4 +exonic ZNF814 chr19 58385053 58385053 C A het . 13 +intronic ZNF814 chr19 58386762 58386762 A G het . 8 +intronic ZNF814 chr19 58398196 58398196 T C het . 2 +intergenic ZNF814(dist=9154),ZNF417(dist=7546) chr19 58409596 58409596 G A het . 2 +intronic ZNF417 chr19 58426883 58426883 T G het . 10 +exonic ZNF418 chr19 58438845 58438845 C A het . 23 +exonic ZNF256 chr19 58455381 58455381 C T het . 15 +intergenic ZNF256(dist=5665),C19orf18(dist=5063) chr19 58464742 58464742 G C het . 6 +intergenic ZNF256(dist=5853),C19orf18(dist=4875) chr19 58464930 58464930 A G het . 2 +UTR3 C19orf18(NM_152474:c.*78T>C) chr19 58469892 58469892 A G het . 11 +intronic C19orf18 chr19 58470137 58470137 - G het . 16 +intronic C19orf18 chr19 58470153 58470153 G A het . 15 +intronic C19orf18 chr19 58472623 58472623 - AAGG het . 5 +intronic C19orf18 chr19 58472949 58472950 CA - het . 5 +intronic C19orf18 chr19 58472963 58472963 T G het . 8 +intronic C19orf18 chr19 58478132 58478132 T - het . 12 +intronic C19orf18 chr19 58478215 58478215 C T het . 5 +intronic C19orf18 chr19 58479381 58479381 - AAAAAG het . 4 +intronic C19orf18 chr19 58483954 58483954 A G het . 17 +intronic C19orf18 chr19 58485439 58485439 C T het . 18 +exonic ZNF606 chr19 58490929 58490929 T C het . 17 +intronic ZNF606 chr19 58496869 58496869 C T het . 3 +intronic ZNF606 chr19 58500271 58500271 T G het . 2 +intronic ZNF606 chr19 58511150 58511150 C T het . 10 +intronic ZNF606 chr19 58512862 58512862 G C het . 9 +intronic ZNF606 chr19 58513477 58513477 G A het . 7 +UTR5 ZNF606(NM_001348025:c.-22234T>G,NM_001348023:c.-13811T>G,NM_001348022:c.-1120T>G) chr19 58513807 58513807 A C het . 19 +UTR5 ZNF606(NM_001348025:c.-22305T>C,NM_001348023:c.-13882T>C,NM_001348022:c.-1191T>C) chr19 58513878 58513878 A G het . 12 +UTR5 ZNF606(NM_001348025:c.-22523_-22522insG,NM_001348023:c.-14100_-14099insG,NM_001348022:c.-1409_-1408insG) chr19 58514095 58514095 - C het . 15 +ncRNA_intronic LOC100128398 chr19 58514715 58514715 C G het . 11 +intergenic LOC100128398(dist=2078),ZSCAN1(dist=24782) chr19 58520652 58520652 - T het . 15 +exonic ZSCAN1 chr19 58549366 58549366 C G het . 10 +intronic ZSCAN1 chr19 58549593 58549593 C G het . 5 +intronic ZSCAN1 chr19 58555753 58555753 T G het . 2 +intronic ZSCAN1 chr19 58555932 58555932 C G het . 6 +intronic ZSCAN1 chr19 58555971 58555971 A C het . 7 +intronic ZSCAN1 chr19 58556890 58556890 G T het . 17 +exonic ZNF135 chr19 58572959 58572959 G A het . 5 +exonic ZNF135 chr19 58572979 58572979 G A het . 6 +intronic ZSCAN18 chr19 58598670 58598670 C T het . 13 +intronic ZSCAN18 chr19 58598784 58598784 A G het . 9 +intronic ZSCAN18 chr19 58600048 58600048 C T het . 9 +intronic ZSCAN18 chr19 58601221 58601221 T C het . 3 +intronic ZSCAN18 chr19 58611131 58611131 A T het . 2 +intronic ZSCAN18 chr19 58621492 58621492 C T het . 2 +upstream ZSCAN18(dist=85) chr19 58629878 58629878 G T het . 2 +intergenic ZSCAN18(dist=3530),ZNF329(dist=4372) chr19 58633323 58633323 A G het . 2 +intergenic ZSCAN18(dist=5487),ZNF329(dist=2412) chr19 58635280 58635283 TCAT - het . 2 +intronic ZNF329 chr19 58644371 58644371 G T het . 2 +intergenic ZNF329(dist=3471),ZNF274(dist=28737) chr19 58665619 58665619 G T het . 1 +intergenic ZNF329(dist=3493),ZNF274(dist=28715) chr19 58665641 58665641 G A het . 2 +intergenic ZNF329(dist=28841),ZNF274(dist=3367) chr19 58690989 58690989 G C het . 2 +intronic ZNF274 chr19 58715091 58715091 C T het . 2 +exonic ZNF274 chr19 58718360 58718360 - G het . 15 +intronic ZNF544 chr19 58752257 58752257 T C het . 3 +intronic ZNF544 chr19 58764185 58764185 C T het . 1 +intronic ZNF544 chr19 58767565 58767565 C T het . 3 +exonic ZNF544 chr19 58774071 58774071 A G het . 9 +intronic ZNF544 chr19 58778070 58778070 C G het . 2 +intronic ZNF544 chr19 58780503 58780503 C T het . 2 +intronic ZNF544 chr19 58781379 58781379 C T het . 2 +intronic ZNF544 chr19 58784272 58784272 G A het . 2 +intronic ZNF544 chr19 58784640 58784640 G A het . 2 +ncRNA_exonic ZNF8-ERVK3-1 chr19 58790675 58790675 T C het . 5 +ncRNA_exonic ZNF8-ERVK3-1 chr19 58790713 58790713 G C het . 4 +ncRNA_exonic ZNF8-ERVK3-1 chr19 58791213 58791213 C A het . 7 +ncRNA_exonic ZNF8-ERVK3-1 chr19 58791254 58791254 A - het . 3 +ncRNA_intronic ZNF8-ERVK3-1 chr19 58797344 58797344 A C het . 3 +ncRNA_intronic ZNF8-ERVK3-1 chr19 58797583 58797583 - T het . 5 +ncRNA_intronic ZNF8-ERVK3-1 chr19 58798286 58798286 G T het . 1 +ncRNA_intronic ZNF8-ERVK3-1 chr19 58798300 58798300 C T het . 2 +ncRNA_intronic ZNF8-ERVK3-1 chr19 58798490 58798490 T C het . 2 +ncRNA_intronic ZNF8-ERVK3-1 chr19 58801518 58801518 T C het . 2 +exonic ZNF8 chr19 58806083 58806083 T C het . 8 +intronic ZSCAN22 chr19 58841364 58841364 C G het . 2 +exonic ZSCAN22 chr19 58850341 58850341 G C het . 10 +UTR3 A1BG(NM_130786:c.*156delG) chr19 58858232 58858232 C - het . 11 +intronic A1BG chr19 58858615 58858615 G - het . 7 +intronic A1BG chr19 58858676 58858676 A G het . 9 +intronic A1BG chr19 58860387 58860387 A T het . 2 +exonic A1BG chr19 58862842 58862842 A C het . 22 +exonic A1BG chr19 58864479 58864479 T C het . 9 +ncRNA_intronic A1BG-AS1 chr19 58864867 58864867 A G het . 4 +exonic ZNF497 chr19 58868480 58868480 G T het . 19 +exonic ZNF497 chr19 58868688 58868688 C A het . 20 +intronic ZNF497 chr19 58870443 58870443 C A het . 8 +exonic RNF225 chr19 58907635 58907635 C A het . 13 +exonic RNF225 chr19 58907700 58907700 G A het . 15 +exonic ZNF132 chr19 58945962 58945962 C T het . 21 +exonic ZNF324 chr19 58982384 58982384 A G het . 17 +exonic ZNF446 chr19 58989495 58989495 A C het . 17 +UTR3 ZNF446(NM_017908:c.*127T>G) chr19 58992220 58992220 T G het . 3 +intronic SLC27A5 chr19 59010593 59010593 A G het . 9 +exonic SLC27A5 chr19 59023166 59023166 G A het . 13 +exonic SLC27A5 chr19 59023174 59023174 A G het . 14 +intronic ZBTB45 chr19 59025685 59025685 A C het . 7 +intronic TRIM28 chr19 59056752 59056752 G C het . 2 +intronic TRIM28 chr19 59056991 59056991 C T het . 6 +exonic TRIM28 chr19 59061357 59061357 C T het . 14 +intronic UBE2M chr19 59067623 59067623 C T het . 9 +exonic MZF1 chr19 59073613 59073613 A G het . 5 +exonic MZF1 chr19 59074429 59074429 C T het . 18 +exonic MZF1 chr19 59074653 59074653 T C het . 9 +exonic MZF1 chr19 59082368 59082368 C T het . 7 +exonic MZF1 chr19 59082447 59082447 C A het . 11 +ncRNA_intronic CENPBD1P1 chr19 59088116 59088116 - ATT het . 2 +downstream CENPBD1P1(dist=507) chr19 59096269 59096269 - C het . 6 +exonic DEFB125 chr20 76962 76962 T C het . 18 +intergenic DEFB126(dist=1328),DEFB127(dist=10391) chr20 127720 127720 A C het . 1 +UTR5 DEFB127(NM_139074:c.-7del-) chr20 138179 138179 C - het . 12 +intronic DEFB127 chr20 139362 139362 G A het . 2 +UTR3 DEFB127(NM_139074:c.*80T>C) chr20 139745 139745 T C het . 3 +intergenic DEFB127(dist=12766),DEFB128(dist=15924) chr20 152570 152570 G A het . 2 +intergenic DEFB127(dist=26104),DEFB128(dist=2586) chr20 165908 165908 T C het . 3 +downstream DEFB128(dist=28) chr20 168466 168466 T A het . 19 +exonic DEFB128 chr20 168728 168728 T A het . 23 +intergenic DEFB129(dist=5431),DEFB132(dist=22419) chr20 215958 215958 G A het . 12 +intergenic DEFB129(dist=16719),DEFB132(dist=11131) chr20 227246 227246 A G het . 2 +intergenic DEFB129(dist=19532),DEFB132(dist=8316) chr20 230059 230061 ATA - het . 3 +intergenic DEFB129(dist=25561),DEFB132(dist=2289) chr20 236088 236088 T C het . 2 +exonic DEFB132 chr20 238436 238441 TGGTCT - het . 16 +intronic DEFB132 chr20 238507 238507 A C het . 11 +intronic DEFB132 chr20 238530 238530 T G het . 13 +intronic DEFB132 chr20 238540 238540 C T het . 16 +exonic DEFB132 chr20 239848 239848 G A het . 17 +intronic C20orf96 chr20 255737 255737 C T het . 2 +intronic C20orf96 chr20 256573 256573 A G het . 13 +exonic C20orf96 chr20 256727 256727 T A het . 12 +exonic C20orf96 chr20 257733 257733 A G het . 21 +intronic C20orf96 chr20 257812 257812 T C het . 13 +intronic C20orf96 chr20 258865 258865 A G het . 5 +intronic C20orf96 chr20 270428 270428 C T het . 4 +intronic C20orf96 chr20 271135 271135 - C het . 15 +intronic C20orf96 chr20 271225 271225 - TTTTA het . 9 +intergenic ZCCHC3(dist=3851),NRSN2-AS1(dist=15517) chr20 284814 284814 T C het . 3 +intergenic ZCCHC3(dist=3871),NRSN2-AS1(dist=15497) chr20 284834 284834 A G het . 3 +UTR3 NRSN2(NM_001323684:c.*39delC,NM_001323683:c.*39delC,NM_001323682:c.*39delC,NM_001323681:c.*39delC,NM_001323680:c.*39delC,NM_001323679:c.*39delC,NM_024958:c.*39delC,NM_001323685:c.*39delC) chr20 334318 334318 C - het . 2 +upstream TRIB3(dist=835) chr20 360438 360438 T C het . 2 +upstream TRIB3(dist=813) chr20 360460 360460 C T het . 2 +exonic TRIB3 chr20 371972 371972 T C het . 9 +exonic TRIB3 chr20 377226 377226 C T het . 13 +intergenic TRIB3(dist=7919),RBCK1(dist=2572) chr20 386122 386122 C T het . 5 +intergenic TRIB3(dist=9173),RBCK1(dist=1318) chr20 387376 387376 - G het . 1 +intergenic TRIB3(dist=9454),RBCK1(dist=1037) chr20 387657 387657 - A het . 2 +intronic RBCK1 chr20 389456 389456 C T het . 4 +exonic RBCK1 chr20 391170 391170 C T het . 19 +intronic RBCK1 chr20 397928 397928 C T het . 25 +intronic RBCK1 chr20 398278 398278 G T het . 6 +intronic RBCK1 chr20 402710 402710 A G het . 3 +intronic RBCK1 chr20 402921 402921 C G het . 5 +intronic TBC1D20 chr20 425606 425606 C A het . 6 +intronic TBC1D20 chr20 429196 429196 C G het . 3 +intronic CSNK2A1 chr20 472827 472827 T - het . 4 +intronic CSNK2A1 chr20 480603 480604 AA - het . 10 +intronic CSNK2A1 chr20 480620 480620 A T het . 19 +intronic CSNK2A1 chr20 492758 492758 C T het . 2 +intronic CSNK2A1 chr20 517857 517857 A G het . 2 +intergenic CSNK2A1(dist=5133),TCF15(dist=55022) chr20 529615 529615 C T het . 3 +exonic TCF15 chr20 590456 590456 A G het . 9 +exonic TCF15 chr20 590542 590543 CG GC het . 11 +UTR5 TCF15(NM_004609:c.-19A>G) chr20 590900 590900 T C het . 2 +intergenic TCF15(dist=6507),SRXN1(dist=29851) chr20 597417 597417 C T het . 2 +UTR3 SRXN1(NM_080725:c.*468A>G) chr20 628890 628890 T C het . 33 +UTR3 SCRT2(NM_033129:c.*396A>G) chr20 643919 643919 T C het . 3 +intergenic SCRT2(dist=37238),SLC52A3(dist=46663) chr20 694061 694061 C G het . 1 +intergenic SCRT2(dist=57006),SLC52A3(dist=26895) chr20 713829 713829 T G het . 1 +intergenic SCRT2(dist=57314),SLC52A3(dist=26587) chr20 714137 714137 A - het . 4 +intergenic SCRT2(dist=57639),SLC52A3(dist=26262) chr20 714462 714462 A G het . 2 +intergenic SCRT2(dist=61719),SLC52A3(dist=22182) chr20 718542 718542 A G het . 2 +intergenic SCRT2(dist=68522),SLC52A3(dist=15379) chr20 725345 725345 T C het . 3 +exonic SLC52A3 chr20 741847 741847 A G het . 8 +exonic SLC52A3 chr20 744450 744450 G A het . 39 +exonic SLC52A3 chr20 744570 744570 G A het . 28 +exonic SLC52A3 chr20 746098 746098 G A het . 45 +intergenic SLC52A3(dist=5878),FAM110A(dist=59234) chr20 755106 755106 - A het . 2 +intergenic SLC52A3(dist=32342),FAM110A(dist=32770) chr20 781570 781570 A T het . 2 +intergenic SLC52A3(dist=32370),FAM110A(dist=32742) chr20 781598 781598 C T het . 2 +intergenic SLC52A3(dist=32376),FAM110A(dist=32734) chr20 781604 781606 CTT - het . 2 +intergenic SLC52A3(dist=35670),FAM110A(dist=29442) chr20 784898 784898 C T het . 1 +intergenic SLC52A3(dist=51929),FAM110A(dist=13183) chr20 801157 801157 - TTC het . 2 +intergenic SLC52A3(dist=51960),FAM110A(dist=13152) chr20 801188 801188 - TC het . 2 +intergenic SLC52A3(dist=57650),FAM110A(dist=7462) chr20 806878 806878 C T het . 2 +exonic FAM110A chr20 825678 825678 T C het . 16 +intergenic FAM110A(dist=1331),ANGPT4(dist=22289) chr20 828253 828253 G A het . 2 +intergenic FAM110A(dist=2377),ANGPT4(dist=21243) chr20 829299 829299 C - het . 2 +intergenic FAM110A(dist=10154),ANGPT4(dist=13466) chr20 837076 837076 G A het . 2 +intergenic FAM110A(dist=17801),ANGPT4(dist=5819) chr20 844723 844723 T C het . 2 +exonic ANGPT4 chr20 860426 860426 G A het . 9 +intronic ANGPT4 chr20 894967 894967 G A het . 2 +intergenic ANGPT4(dist=12886),RSPO4(dist=29233) chr20 909863 909863 A T het . 2 +intergenic ANGPT4(dist=15688),RSPO4(dist=26431) chr20 912665 912665 T C het . 2 +intergenic ANGPT4(dist=15702),RSPO4(dist=26417) chr20 912679 912679 C A het . 1 +intergenic ANGPT4(dist=20818),RSPO4(dist=21301) chr20 917795 917795 A T het . 3 +intergenic ANGPT4(dist=20840),RSPO4(dist=21279) chr20 917817 917817 C T het . 3 +intergenic RSPO4(dist=73078),PSMF1(dist=37887) chr20 1055985 1055985 A C het . 2 +intergenic RSPO4(dist=73090),PSMF1(dist=37875) chr20 1055997 1055997 A - het . 2 +intergenic RSPO4(dist=74917),PSMF1(dist=36048) chr20 1057824 1057824 G A het . 2 +intergenic RSPO4(dist=78753),PSMF1(dist=32212) chr20 1061660 1061660 C T het . 2 +intergenic RSPO4(dist=97038),PSMF1(dist=13927) chr20 1079945 1079945 G A het . 2 +intergenic RSPO4(dist=100725),PSMF1(dist=10240) chr20 1083632 1083632 T C het . 4 +UTR5 PSMF1(NM_001323410:c.-88A>G,NM_001323409:c.-88A>G,NM_006814:c.-88A>G,NM_001323408:c.-88A>G) chr20 1099329 1099329 A G het . 2 +exonic PSMF1 chr20 1099523 1099523 T G het . 20 +intronic PSMF1 chr20 1099666 1099666 G C het . 3 +intronic PSMF1 chr20 1100403 1100403 A C het . 1 +exonic PSMF1 chr20 1108122 1108122 C T het . 24 +intronic PSMF1 chr20 1108262 1108262 C G het . 4 +intronic PSMF1 chr20 1115681 1115681 C T het . 12 +intronic PSMF1 chr20 1119692 1119692 G T het . 2 +intronic PSMF1 chr20 1127821 1127822 AC GT het . 5 +intronic RAD21L1 chr20 1208765 1208765 G T het . 3 +exonic RAD21L1 chr20 1210647 1210647 T C het . 22 +exonic RAD21L1 chr20 1214814 1214814 A C het . 20 +intronic RAD21L1 chr20 1216417 1216417 T - het . 3 +intronic RAD21L1 chr20 1221171 1221171 G A het . 7 +intronic SNPH chr20 1269271 1269271 C T het . 1 +intronic SNPH chr20 1269588 1269588 C T het . 1 +ncRNA_exonic FKBP1A-SDCBP2 chr20 1291018 1291018 G A het . 5 +ncRNA_exonic FKBP1A-SDCBP2 chr20 1291076 1291076 G C het . 15 +ncRNA_intronic FKBP1A-SDCBP2 chr20 1292964 1292964 T C het . 7 +exonic SDCBP2 chr20 1293008 1293008 C T het . 11 +ncRNA_intronic FKBP1A-SDCBP2 chr20 1298794 1298794 G A het . 25 +ncRNA_intronic FKBP1A-SDCBP2,SDCBP2-AS1 chr20 1337254 1337254 T C het . 3 +ncRNA_intronic FKBP1A-SDCBP2,SDCBP2-AS1 chr20 1344929 1344929 C A het . 2 +ncRNA_intronic FKBP1A-SDCBP2,SDCBP2-AS1 chr20 1350672 1350672 T C het . 15 +exonic FKBP1A chr20 1350709 1350709 T C het . 19 +ncRNA_intronic FKBP1A-SDCBP2,SDCBP2-AS1 chr20 1356261 1356261 G C het . 20 +intergenic FKBP1A-SDCBP2(dist=13124),NSFL1C(dist=35867) chr20 1386940 1386940 C T het . 2 +intergenic FKBP1A-SDCBP2(dist=18122),NSFL1C(dist=30869) chr20 1391938 1391938 C G het . 2 +intergenic FKBP1A-SDCBP2(dist=18142),NSFL1C(dist=30849) chr20 1391958 1391958 T G het . 3 +intergenic FKBP1A-SDCBP2(dist=19855),NSFL1C(dist=29136) chr20 1393671 1393671 A G het . 2 +intergenic FKBP1A-SDCBP2(dist=20404),NSFL1C(dist=28587) chr20 1394220 1394220 A C het . 2 +intergenic FKBP1A-SDCBP2(dist=20446),NSFL1C(dist=28545) chr20 1394262 1394262 T C het . 2 +intronic NSFL1C chr20 1435905 1435905 T C het . 2 +exonic SIRPB2 chr20 1459060 1459060 T G het . 16 +intergenic SIRPB2(dist=25217),SIRPD(dist=17447) chr20 1497450 1497450 T C het . 2 +intergenic SIRPB2(dist=30582),SIRPD(dist=12082) chr20 1502815 1502815 C T het . 1 +intronic SIRPD chr20 1517979 1517979 G A het . 2 +intronic SIRPD chr20 1519865 1519865 T C het . 2 +intronic SIRPD chr20 1520272 1520272 T C het . 3 +intronic SIRPD chr20 1520883 1520883 T C het . 14 +exonic SIRPD chr20 1532595 1532595 T C het . 17 +exonic SIRPD chr20 1538249 1538249 C T het . 1 +intronic SIRPB1 chr20 1546742 1546742 T A het . 4 +exonic SIRPB1 chr20 1546911 1546911 C G het . 9 +exonic SIRPB1 chr20 1552430 1552430 T C het . 16 +intronic SIRPB1 chr20 1597050 1597050 G A het . 2 +intronic SIRPB1 chr20 1597433 1597433 G T het . 3 +exonic SIRPB1 chr20 1600524 1600524 T C het . 8 +exonic SIRPG chr20 1610894 1610894 G A het . 7 +exonic SIRPG chr20 1615959 1615959 T C het . 13 +exonic SIRPG chr20 1616137 1616137 G A het . 21 +exonic SIRPG chr20 1616206 1616206 A G het . 13 +exonic SIRPG chr20 1629906 1629906 C T het . 31 +intronic SIRPG chr20 1636005 1636005 A G het . 3 +intergenic SIRPG(dist=13363),LOC100289473(dist=102223) chr20 1651788 1651788 A G het . 3 +intergenic SIRPG(dist=20798),LOC100289473(dist=94788) chr20 1659223 1659223 A G het . 2 +intergenic SIRPG(dist=20801),LOC100289473(dist=94785) chr20 1659226 1659226 A G het . 2 +intergenic SIRPG(dist=28564),LOC100289473(dist=87022) chr20 1666989 1666989 C A het . 2 +intergenic SIRPG(dist=40325),LOC100289473(dist=75261) chr20 1678750 1678750 C T het . 2 +intergenic SIRPG(dist=43110),LOC100289473(dist=72476) chr20 1681535 1681535 G A het . 2 +intergenic SIRPG(dist=43112),LOC100289473(dist=72474) chr20 1681537 1681537 A G het . 2 +intergenic SIRPG(dist=50388),LOC100289473(dist=65198) chr20 1688813 1688813 T C het . 7 +intergenic SIRPG(dist=50419),LOC100289473(dist=65167) chr20 1688844 1688844 T C het . 7 +intergenic SIRPG(dist=53860),LOC100289473(dist=61726) chr20 1692285 1692285 A C het . 2 +intergenic SIRPG(dist=87373),LOC100289473(dist=28213) chr20 1725798 1725798 T C het . 1 +intergenic SIRPG(dist=87382),LOC100289473(dist=28204) chr20 1725807 1725807 A G het . 1 +intergenic SIRPG(dist=92905),LOC100289473(dist=22681) chr20 1731330 1731330 A G het . 2 +intergenic SIRPG(dist=97066),LOC100289473(dist=18520) chr20 1735491 1735491 A - het . 3 +intergenic SIRPG(dist=100094),LOC100289473(dist=15492) chr20 1738519 1738519 - G het . 3 +intergenic SIRPG(dist=105674),LOC100289473(dist=9912) chr20 1744099 1744099 T C het . 2 +intergenic LOC100289473(dist=4228),SIRPA(dist=110193) chr20 1764620 1764620 A G het . 2 +intergenic LOC100289473(dist=4545),SIRPA(dist=109876) chr20 1764937 1764937 A C het . 2 +intergenic LOC100289473(dist=8304),SIRPA(dist=106117) chr20 1768696 1768696 A C het . 2 +intergenic LOC100289473(dist=47029),SIRPA(dist=67392) chr20 1807421 1807421 C A het . 2 +intronic SIRPA chr20 1887146 1887146 G T het . 2 +intronic SIRPA chr20 1911224 1911224 T G het . 2 +exonic PDYN chr20 1961134 1961134 A G het . 12 +exonic PDYN chr20 1961298 1961298 T G het . 31 +ncRNA_intronic PDYN-AS1 chr20 1985050 1985050 G A het . 2 +intergenic PDYN-AS1(dist=82482),STK35(dist=11883) chr20 2070645 2070645 - A het . 2 +intergenic PDYN-AS1(dist=91475),STK35(dist=2890) chr20 2079638 2079638 A T het . 2 +exonic STK35 chr20 2082732 2082732 C G het . 4 +intronic STK35 chr20 2106355 2106355 G A het . 2 +intronic STK35 chr20 2118351 2118351 T C het . 2 +intergenic LOC388780(dist=3604),TGM3(dist=79212) chr20 2197401 2197401 T G het . 2 +intergenic LOC388780(dist=7417),TGM3(dist=75399) chr20 2201214 2201214 G C het . 3 +intergenic LOC388780(dist=25162),TGM3(dist=57654) chr20 2218959 2218959 C T het . 2 +intergenic LOC388780(dist=77510),TGM3(dist=5306) chr20 2271307 2271307 A G het . 2 +intergenic LOC388780(dist=80190),TGM3(dist=2626) chr20 2273987 2273987 A T het . 2 +intronic TGM3 chr20 2278553 2278553 G A het . 2 +intronic TGM3 chr20 2280882 2280882 - AAAG het . 2 +exonic TGM3 chr20 2290333 2290333 C A het . 18 +intronic TGM3 chr20 2290532 2290532 T G het . 7 +intronic TGM3 chr20 2290547 2290547 C T het . 4 +intronic TGM3 chr20 2291888 2291888 A T het . 2 +intronic TGM3 chr20 2301285 2301285 G A het . 2 +intronic TGM3 chr20 2301308 2301308 T G het . 2 +intronic TGM3 chr20 2304832 2304832 G C het . 2 +intronic TGM3 chr20 2315929 2315929 C T het . 4 +exonic TGM3 chr20 2321105 2321105 G C het . 15 +intergenic TGM3(dist=12302),TGM6(dist=27527) chr20 2334027 2334027 T C het . 3 +intergenic TGM3(dist=15157),TGM6(dist=24672) chr20 2336882 2336882 A C het . 3 +intergenic TGM3(dist=15161),TGM6(dist=24668) chr20 2336886 2336886 C T het . 3 +intergenic TGM3(dist=20694),TGM6(dist=19135) chr20 2342419 2342419 A G het . 1 +intronic TGM6 chr20 2361684 2361684 C T het . 14 +intronic TGM6 chr20 2362643 2362643 - TG het . 3 +exonic TGM6 chr20 2375262 2375262 A G het . 18 +intronic TGM6 chr20 2380396 2380396 G A het . 10 +intronic TGM6 chr20 2410952 2410952 C T het . 13 +intronic TGM6 chr20 2413020 2413020 G A het . 11 +intronic TGM6 chr20 2413125 2413126 CC TT het . 22 +intronic TGM6 chr20 2413126 2413126 C T het . 22 +UTR3 TGM6(NM_001254734:c.*140T>C,NM_198994:c.*31T>C) chr20 2413320 2413320 T C het . 12 +intronic ZNF343 chr20 2473587 2473587 A T het . 6 +intronic ZNF343 chr20 2474081 2474081 T C het . 13 +splicing ZNF343(NM_001321803:exon4:c.177+2T>G,NM_001321802:exon4:c.177+2T>G,NM_001321801:exon4:c.177+2T>G,NM_001321800:exon4:c.177+2T>G,NM_024325:exon4:c.177+2T>G,NM_001321805:exon4:c.177+2T>G,NM_001282497:exon4:c.177+2T>G,NM_001282496:exon4:c.177+2T>G,NM_001282495:exon5:c.177+2T>G,NM_001282499:exon4:c.177+2T>G) chr20 2474163 2474163 A C het . 21 +intronic ZNF343 chr20 2475244 2475244 G A het . 2 +intronic ZNF343 chr20 2495648 2495648 - A het . 2 +intronic TMC2 chr20 2517377 2517377 A G het . 5 +intronic TMC2 chr20 2517432 2517432 T C het . 3 +intronic TMC2 chr20 2517825 2517825 T C het . 1 +intronic TMC2 chr20 2529285 2529285 A - het . 2 +exonic TMC2 chr20 2539387 2539387 G A het . 4 +intronic TMC2 chr20 2542669 2542669 C T het . 7 +intronic TMC2 chr20 2543144 2543144 C A het . 2 +intronic TMC2 chr20 2543804 2543804 G A het . 2 +intronic TMC2 chr20 2552926 2552926 T C het . 10 +intronic TMC2 chr20 2559778 2559778 G C het . 23 +intronic TMC2 chr20 2593006 2593006 A G het . 2 +intronic TMC2 chr20 2596969 2596969 T A het . 8 +intronic TMC2 chr20 2596998 2596998 G A het . 7 +intronic TMC2 chr20 2597978 2597978 G A het . 6 +intronic TMC2 chr20 2616556 2616556 T C het . 23 +intronic TMC2 chr20 2616679 2616679 C G het . 14 +intronic TMC2 chr20 2618034 2618034 A - het . 3 +intronic TMC2 chr20 2618094 2618094 G A het . 9 +exonic TMC2 chr20 2618140 2618140 T C het . 18 +intronic TMC2 chr20 2618308 2618308 C T het . 6 +intronic TMC2 chr20 2621762 2621762 T C het . 12 +upstream MIR1292,NOP56(dist=505) chr20 2632673 2632673 A G het . 2 +UTR5 NOP56(NM_006392:c.-73T>G) chr20 2633234 2633234 T G het . 2 +UTR5 NOP56(NM_006392:c.-63A>C) chr20 2633244 2633244 A C het . 2 +intronic NOP56 chr20 2633326 2633331 GGGCGC - het . 2 +intronic NOP56 chr20 2633399 2633404 GCCTGC - het . 5 +exonic NOP56 chr20 2633936 2633936 T C het . 9 +intronic NOP56 chr20 2636694 2636694 C A het . 18 +exonic NOP56 chr20 2637071 2637071 T C het . 13 +intronic IDH3B chr20 2640014 2640014 A T het . 3 +exonic IDH3B chr20 2640760 2640760 A G het . 29 +intronic IDH3B chr20 2644407 2644407 C G het . 14 +upstream IDH3B(dist=106) chr20 2644975 2644975 C T het . 6 +intergenic IDH3B(dist=10056),EBF4(dist=18599) chr20 2654925 2654925 A C het . 2 +intergenic IDH3B(dist=25793),EBF4(dist=2862) chr20 2670662 2670662 C T het . 1 +exonic EBF4 chr20 2739583 2739583 T C het . 26 +intronic CPXM1 chr20 2777828 2777828 G T het . 2 +intronic CPXM1 chr20 2779257 2779257 G C het . 4 +intergenic CPXM1(dist=3541),C20orf141(dist=10800) chr20 2784833 2784833 A C het . 8 +intergenic CPXM1(dist=3633),C20orf141(dist=10708) chr20 2784925 2784925 G A het . 3 +exonic TMEM239 chr20 2797015 2797015 G A het . 11 +exonic PTPRA chr20 2945552 2945552 C A het . 19 +exonic PTPRA chr20 2945786 2945786 C A het . 23 +intronic PTPRA chr20 2982824 2982824 A - het . 2 +intronic PTPRA chr20 2985949 2985949 C A het . 5 +intergenic MRPS26(dist=7561),OXT(dist=15809) chr20 3036457 3036457 G A het . 5 +intergenic MRPS26(dist=10219),OXT(dist=13151) chr20 3039115 3039115 G A het . 2 +intergenic MRPS26(dist=14644),OXT(dist=8726) chr20 3043540 3043540 C A het . 4 +downstream AVP(dist=41) chr20 3063161 3063161 T C het . 2 +intergenic AVP(dist=2058),UBOX5-AS1(dist=20129) chr20 3067428 3067428 A C het . 2 +intergenic AVP(dist=7705),UBOX5-AS1(dist=14482) chr20 3073075 3073075 A G het . 2 +exonic UBOX5 chr20 3090848 3090848 T G het . 26 +intronic FASTKD5,UBOX5 chr20 3132828 3132828 T G het . 3 +exonic LZTS3 chr20 3147468 3147468 G A het . 30 +intronic DDRGK1 chr20 3172246 3172246 A C het . 3 +UTR5 ITPA(NM_001351739:c.-9166C>G,NM_001324240:c.-159C>G,NM_001324236:c.-9166C>G,NM_001267623:c.-159C>G,NM_033453:c.-159C>G,NM_181493:c.-159C>G) chr20 3190039 3190039 C G het . 15 +exonic ITPA chr20 3193978 3193978 G A het . 60 +intronic ITPA chr20 3195810 3195810 G A het . 17 +intronic ITPA chr20 3199373 3199373 G A het . 11 +intronic ITPA chr20 3199446 3199446 G C het . 3 +intronic ITPA chr20 3203950 3203950 T A het . 14 +exonic ITPA chr20 3204084 3204084 G A het . 24 +intronic SLC4A11 chr20 3209371 3209371 G A het . 10 +intronic SLC4A11 chr20 3210692 3210692 A G het . 2 +intronic SLC4A11 chr20 3211719 3211719 T G het . 23 +exonic SLC4A11 chr20 3214819 3214819 T G het . 18 +intronic SLC4A11 chr20 3215088 3215088 C T het . 8 +intronic SLC4A11 chr20 3215548 3215548 C A het . 25 +UTR5 SLC4A11(NM_032034:c.-30G>C) chr20 3218355 3218355 C G het . 11 +exonic SLC4A11 chr20 3218634 3218634 G C het . 6 +intergenic SLC4A11(dist=8246),C20orf194(dist=1815) chr20 3228133 3228133 A T het . 2 +intronic C20orf194 chr20 3276660 3276660 T - het . 33 +exonic C20orf194 chr20 3285126 3285126 A T het . 23 +exonic C20orf194 chr20 3285140 3285140 T C het . 26 +intronic C20orf194 chr20 3298882 3298883 AA - het . 3 +intronic C20orf194 chr20 3306531 3306531 T - het . 2 +intronic C20orf194 chr20 3313106 3313106 T - het . 11 +intronic C20orf194 chr20 3332482 3332485 TTTA - het . 2 +intronic C20orf194 chr20 3339426 3339426 A G het . 2 +intronic C20orf194 chr20 3339434 3339434 T C het . 2 +intronic C20orf194 chr20 3339445 3339445 T C het . 2 +intronic C20orf194 chr20 3342643 3342643 T C het . 15 +intronic C20orf194 chr20 3344584 3344584 T C het . 2 +intronic C20orf194 chr20 3361908 3361908 G A het . 3 +intergenic C20orf194(dist=17460),ATRN(dist=45896) chr20 3405769 3405769 G C het . 2 +upstream ATRN(dist=665) chr20 3451000 3451000 G C het . 2 +intronic ATRN chr20 3523756 3523756 A C het . 2 +intronic ATRN chr20 3541633 3541633 A G het . 6 +intronic ATRN chr20 3542407 3542407 T C het . 2 +intronic ATRN chr20 3547663 3547663 A T het . 2 +intronic ATRN chr20 3550694 3550694 A G het . 2 +intronic ATRN chr20 3550791 3550791 T - het . 2 +intronic ATRN chr20 3553750 3553750 T A het . 5 +intronic ATRN chr20 3560104 3560104 G A het . 3 +exonic ATRN chr20 3564672 3564672 C T het . 8 +intronic ATRN chr20 3565546 3565546 C G het . 7 +intronic ATRN chr20 3575248 3575248 G C het . 4 +intronic ATRN chr20 3597171 3597171 A G het . 1 +intronic ATRN chr20 3605336 3605336 A G het . 8 +UTR3 ATRN(NM_001323332:c.*359C>T) chr20 3609912 3609912 C T het . 2 +intronic ATRN chr20 3613805 3613805 - AGAG het . 2 +intronic ATRN chr20 3624704 3624704 G A het . 2 +exonic ATRN chr20 3624830 3624830 G A het . 15 +exonic GFRA4 chr20 3641881 3641881 C T het . 4 +intronic ADAM33 chr20 3649713 3649713 A G het . 9 +intronic ADAM33 chr20 3649721 3649721 T C het . 9 +intronic ADAM33 chr20 3650053 3650053 T C het . 4 +exonic ADAM33 chr20 3652411 3652411 C A het . 16 +intronic ADAM33 chr20 3657803 3657804 AT GA het . 9 +intronic ADAM33 chr20 3661029 3661029 C G het . 2 +exonic SIGLEC1 chr20 3675333 3675333 G A het . 9 +exonic SIGLEC1 chr20 3675498 3675498 T G het . 12 +exonic SIGLEC1 chr20 3677357 3677357 T C het . 17 +exonic SIGLEC1 chr20 3677736 3677736 T G het . 12 +exonic SIGLEC1 chr20 3682011 3682011 G A het . 3 +exonic SIGLEC1 chr20 3684729 3684729 T C het . 13 +exonic SIGLEC1 chr20 3686436 3686436 C T het . 5 +intergenic SIGLEC1(dist=18183),HSPA12B(dist=7359) chr20 3705958 3705958 C G het . 2 +intronic HSPA12B chr20 3715694 3715694 G A het . 2 +exonic HSPA12B chr20 3732633 3732633 C T het . 18 +intronic C20orf27 chr20 3740621 3740622 CA - het . 4 +intronic SPEF1 chr20 3759200 3759200 G A het . 10 +intronic SPEF1 chr20 3759528 3759528 C T het . 18 +intronic CDC25B chr20 3778433 3778433 T C het . 6 +intronic CDC25B chr20 3783649 3783649 G C het . 11 +exonic CDC25B chr20 3784110 3784110 C T het . 25 +ncRNA_exonic LINC01730 chr20 3792888 3792888 G A het . 2 +exonic MAVS chr20 3838441 3838441 C G het . 19 +exonic MAVS chr20 3843027 3843027 C A het . 9 +exonic MAVS chr20 3846397 3846397 C T het . 14 +intergenic MAVS(dist=8260),PANK2(dist=4456) chr20 3865030 3865030 C T het . 2 +exonic PANK2 chr20 3869884 3869884 A T het . 22 +exonic PANK2 chr20 3870124 3870124 G C het . 7 +intronic PANK2 chr20 3879248 3879248 C T het . 2 +intronic PANK2 chr20 3897559 3897559 - TTCCCC het . 31 +intronic PANK2 chr20 3899640 3899640 G A het . 2 +intronic RNF24 chr20 3915885 3915885 A C het . 3 +intronic RNF24 chr20 3927789 3927789 T C het . 2 +intronic RNF24 chr20 3930036 3930036 A C het . 2 +intronic RNF24 chr20 3935548 3935548 G - het . 2 +intronic RNF24 chr20 3938118 3938118 T A het . 2 +intronic RNF24 chr20 3954789 3954789 T A het . 9 +intronic RNF24 chr20 3982572 3982572 C T het . 2 +intronic RNF24 chr20 3983115 3983115 T C het . 5 +intronic RNF24 chr20 3994153 3994153 G C het . 2 +intergenic RNF24(dist=41794),SMOX(dist=91394) chr20 4038032 4038032 C T het . 2 +intergenic RNF24(dist=44525),SMOX(dist=88663) chr20 4040763 4040763 T C het . 15 +intergenic RNF24(dist=56355),SMOX(dist=76833) chr20 4052593 4052593 T A het . 1 +intergenic RNF24(dist=57016),SMOX(dist=76172) chr20 4053254 4053254 A G het . 29 +intergenic RNF24(dist=71137),SMOX(dist=62051) chr20 4067375 4067375 T C het . 2 +intergenic RNF24(dist=103320),SMOX(dist=29868) chr20 4099558 4099558 T G het . 2 +intergenic RNF24(dist=110261),SMOX(dist=22927) chr20 4106499 4106499 C - het . 2 +intergenic RNF24(dist=111545),SMOX(dist=21643) chr20 4107783 4107783 T C het . 3 +upstream SMOX(dist=812) chr20 4128614 4128614 A C het . 1 +upstream SMOX(dist=809) chr20 4128617 4128617 A C het . 2 +exonic SMOX chr20 4158164 4158164 C A het . 27 +exonic SMOX chr20 4163242 4163242 C T het . 13 +exonic SMOX chr20 4163302 4163302 A G het . 8 +intronic ADRA1D chr20 4202802 4202802 A G het . 5 +intronic ADRA1D chr20 4203219 4203219 G A het . 2 +intronic ADRA1D chr20 4203226 4203226 C T het . 2 +intronic ADRA1D chr20 4221484 4221484 C A het . 2 +intergenic ADRA1D(dist=18115),PRNP(dist=418966) chr20 4247774 4247774 T G het . 2 +intergenic ADRA1D(dist=25913),PRNP(dist=411165) chr20 4255572 4255575 GAAA - het . 2 +intergenic ADRA1D(dist=137381),PRNP(dist=299699) chr20 4367040 4367041 CG AC het . 2 +intergenic ADRA1D(dist=137389),PRNP(dist=299692) chr20 4367048 4367048 G A het . 1 +intergenic ADRA1D(dist=137395),PRNP(dist=299685) chr20 4367054 4367055 GC CA het . 1 +intergenic ADRA1D(dist=137402),PRNP(dist=299679) chr20 4367061 4367061 C A het . 1 +intergenic ADRA1D(dist=142625),PRNP(dist=294456) chr20 4372284 4372284 G A het . 2 +intergenic ADRA1D(dist=142636),PRNP(dist=294444) chr20 4372295 4372296 AA - het . 2 +intergenic ADRA1D(dist=142641),PRNP(dist=294440) chr20 4372300 4372300 A C het . 2 +intergenic ADRA1D(dist=147423),PRNP(dist=289658) chr20 4377082 4377082 T A het . 2 +intergenic ADRA1D(dist=162185),PRNP(dist=274896) chr20 4391844 4391844 C T het . 3 +intergenic ADRA1D(dist=172682),PRNP(dist=264399) chr20 4402341 4402341 G C het . 2 +intergenic ADRA1D(dist=194704),PRNP(dist=242377) chr20 4424363 4424363 C T het . 2 +intergenic ADRA1D(dist=212680),PRNP(dist=224397) chr20 4442339 4442343 TTTAT - het . 2 +intergenic ADRA1D(dist=223804),PRNP(dist=213277) chr20 4453463 4453463 C T het . 2 +intergenic ADRA1D(dist=263933),PRNP(dist=173148) chr20 4493592 4493592 - G het . 2 +intergenic ADRA1D(dist=271752),PRNP(dist=165329) chr20 4501411 4501411 T G het . 2 +intergenic ADRA1D(dist=273946),PRNP(dist=163135) chr20 4503605 4503605 T C het . 2 +intergenic ADRA1D(dist=298312),PRNP(dist=138769) chr20 4527971 4527971 A G het . 2 +intergenic ADRA1D(dist=312907),PRNP(dist=124174) chr20 4542566 4542566 G C het . 2 +intergenic ADRA1D(dist=316920),PRNP(dist=120161) chr20 4546579 4546579 C T het . 2 +intergenic ADRA1D(dist=331148),PRNP(dist=105933) chr20 4560807 4560807 C T het . 2 +intergenic ADRA1D(dist=341119),PRNP(dist=95962) chr20 4570778 4570778 C T het . 2 +intergenic ADRA1D(dist=342036),PRNP(dist=95045) chr20 4571695 4571695 G A het . 4 +exonic PRNP chr20 4680251 4680251 A G het . 23 +exonic PRND chr20 4705718 4705718 C T het . 12 +UTR3 PRND(NM_012409:c.*28T>C) chr20 4705756 4705756 T C het . 10 +ncRNA_exonic PRNT chr20 4713176 4713176 A G het . 29 +ncRNA_intronic PRNT chr20 4715061 4715061 G A het . 2 +ncRNA_intronic PRNT chr20 4720146 4720146 G A het . 2 +upstream PRNT(dist=612) chr20 4721926 4721926 G C het . 1 +intergenic PRNT(dist=1948),RASSF2(dist=37407) chr20 4723262 4723262 T C het . 2 +intergenic PRNT(dist=6113),RASSF2(dist=33242) chr20 4727427 4727427 G A het . 2 +intergenic PRNT(dist=32873),RASSF2(dist=6482) chr20 4754187 4754187 G C het . 2 +exonic RASSF2 chr20 4766921 4766921 C A het . 17 +intronic RASSF2 chr20 4773124 4773124 C A het . 9 +intronic RASSF2 chr20 4793511 4793511 C T het . 2 +intergenic RASSF2(dist=18242),SLC23A2(dist=10467) chr20 4822533 4822535 AAC - het . 3 +intergenic RASSF2(dist=18272),SLC23A2(dist=10439) chr20 4822563 4822563 C T het . 4 +exonic SLC23A2 chr20 4837781 4837781 C A het . 10 +exonic SLC23A2 chr20 4880308 4880308 G A het . 18 +intronic SLC23A2 chr20 4894220 4894220 T C het . 2 +intronic SLC23A2 chr20 4972062 4972062 T C het . 2 +intronic SLC23A2 chr20 4983613 4983613 G C het . 3 +intergenic SLC23A2(dist=15748),TMEM230(dist=42337) chr20 5006687 5006691 CTTTT - het . 13 +intergenic SLC23A2(dist=19673),TMEM230(dist=38413) chr20 5010612 5010615 AAAC - het . 3 +intergenic SLC23A2(dist=20869),TMEM230(dist=37220) chr20 5011808 5011808 T C het . 2 +intergenic SLC23A2(dist=31834),TMEM230(dist=26255) chr20 5022773 5022773 G A het . 3 +intergenic SLC23A2(dist=31860),TMEM230(dist=26229) chr20 5022799 5022799 C A het . 5 +intronic TMEM230 chr20 5058061 5058061 T C het . 2 +intronic TMEM230 chr20 5075381 5075381 C G het . 2 +intronic PCNA chr20 5099516 5099516 G A het . 16 +intronic PCNA chr20 5100185 5100185 G T het . 5 +intronic CDS2 chr20 5109259 5109259 T C het . 3 +intronic CDS2 chr20 5109269 5109269 C A het . 2 +intronic CDS2 chr20 5169877 5169877 A G het . 15 +intergenic CDS2(dist=19165),PROKR2(dist=84148) chr20 5197698 5197698 T - het . 3 +intergenic PROKR2(dist=104940),LINC00658(dist=10285) chr20 5402318 5402318 A C het . 2 +intergenic LINC00658(dist=5809),LOC643406(dist=19639) chr20 5432203 5432203 G A het . 3 +intergenic LINC00658(dist=9775),LOC643406(dist=15673) chr20 5436169 5436169 C G het . 2 +intergenic LINC01729(dist=11703),GPCPD1(dist=22726) chr20 5502351 5502354 CCTT - het . 9 +intronic GPCPD1 chr20 5528518 5528518 A G het . 9 +intronic GPCPD1 chr20 5528534 5528534 A G het . 7 +intronic GPCPD1 chr20 5539192 5539192 T C het . 3 +intronic GPCPD1 chr20 5542052 5542052 A G het . 5 +intronic GPCPD1 chr20 5542092 5542092 T C het . 16 +intronic GPCPD1 chr20 5545874 5545874 T - het . 5 +intronic GPCPD1 chr20 5548209 5548210 AA - het . 13 +intronic GPCPD1 chr20 5550618 5550618 A T het . 3 +intronic GPCPD1 chr20 5555317 5555317 A G het . 2 +intronic GPCPD1 chr20 5557859 5557859 C T het . 2 +intronic GPCPD1 chr20 5574134 5574134 T C het . 3 +intronic GPCPD1 chr20 5579564 5579564 C A het . 9 +intergenic GPCPD1(dist=19847),SHLD1(dist=119514) chr20 5611519 5611519 C T het . 2 +intergenic GPCPD1(dist=123521),SHLD1(dist=15840) chr20 5715193 5715193 C T het . 2 +intronic SHLD1 chr20 5737320 5737323 TTTC - het . 2 +intronic SHLD1 chr20 5749778 5749778 C T het . 2 +intronic SHLD1 chr20 5752474 5752474 T C het . 6 +intronic SHLD1 chr20 5752614 5752614 A G het . 11 +intronic SHLD1 chr20 5752917 5752917 A G het . 9 +exonic SHLD1 chr20 5753579 5753579 C T het . 15 +intronic SHLD1 chr20 5817640 5817640 G A het . 3 +intronic SHLD1 chr20 5818452 5818452 T - het . 10 +intronic SHLD1 chr20 5818470 5818470 G A het . 12 +intronic SHLD1 chr20 5819937 5819937 A C het . 2 +intronic SHLD1 chr20 5840365 5840365 G T het . 2 +intronic SHLD1 chr20 5840370 5840370 C T het . 2 +intronic SHLD1 chr20 5842715 5842715 T A het . 2 +exonic SHLD1 chr20 5843812 5843812 T C het . 16 +intergenic SHLD1(dist=27334),CHGB(dist=19587) chr20 5872387 5872387 T A het . 3 +intergenic SHLD1(dist=44596),CHGB(dist=2325) chr20 5889649 5889649 T C het . 2 +intronic CHGB chr20 5897362 5897362 G A het . 3 +intronic CHGB chr20 5902853 5902853 C A het . 6 +exonic CHGB chr20 5903067 5903067 T A het . 12 +exonic CHGB chr20 5903323 5903323 G A het . 27 +exonic CHGB chr20 5903517 5903517 A G het . 17 +exonic CHGB chr20 5903848 5903848 C G het . 21 +exonic CHGB chr20 5903894 5903894 A G het . 19 +exonic CHGB chr20 5904040 5904040 G A het . 28 +intronic CHGB chr20 5905550 5905550 G A het . 11 +intergenic CHGB(dist=3231),TRMT6(dist=9243) chr20 5909236 5909236 T C het . 5 +intergenic CHGB(dist=3375),TRMT6(dist=9099) chr20 5909380 5909380 C A het . 9 +intergenic CHGB(dist=3560),TRMT6(dist=8914) chr20 5909565 5909565 A G het . 10 +intergenic CHGB(dist=3710),TRMT6(dist=8764) chr20 5909715 5909715 A G het . 10 +intronic TRMT6 chr20 5924699 5924699 C A het . 23 +intronic MCM8 chr20 5935385 5935385 T C het . 20 +intronic MCM8 chr20 5948706 5948706 A G het . 9 +intronic MCM8 chr20 5948712 5948712 C T het . 8 +intronic MCM8 chr20 5953459 5953459 C A het . 10 +ncRNA_intronic MCM8-AS1 chr20 5975380 5975380 - A het . 15 +ncRNA_intronic MCM8-AS1 chr20 5983264 5983264 - GG het . 2 +intronic CRLS1 chr20 5988095 5988095 A G het . 17 +intronic CRLS1 chr20 6011882 6011882 G T het . 12 +exonic LRRN4 chr20 6033004 6033004 G A het . 2 +exonic LRRN4 chr20 6033025 6033025 T C het . 6 +intergenic LRRN4(dist=18591),FERMT1(dist=2175) chr20 6053317 6053317 T C het . 3 +intronic FERMT1 chr20 6058210 6058210 T C het . 2 +intronic FERMT1 chr20 6064554 6064554 A G het . 13 +intronic FERMT1 chr20 6064635 6064635 G A het . 16 +exonic FERMT1 chr20 6064710 6064710 A G het . 34 +intronic FERMT1 chr20 6064839 6064839 T C het . 26 +exonic FERMT1 chr20 6065729 6065729 C T het . 33 +exonic FERMT1 chr20 6065731 6065731 T C het . 33 +intronic FERMT1 chr20 6090879 6090879 G A het . 8 +intronic FERMT1 chr20 6091175 6091175 T G het . 10 +intronic FERMT1 chr20 6091183 6091183 T C het . 11 +exonic FERMT1 chr20 6093177 6093177 A G het . 39 +intronic FERMT1 chr20 6096337 6096337 G T het . 9 +exonic FERMT1 chr20 6096632 6096632 G A het . 27 +intronic FERMT1 chr20 6100002 6100002 C A het . 12 +exonic FERMT1 chr20 6100088 6100088 A G het . 26 +intronic FERMT1 chr20 6100230 6100230 A C het . 15 +intergenic FERMT1(dist=24032),CASC20(dist=279156) chr20 6128223 6128223 G A het . 2 +intergenic FERMT1(dist=83231),CASC20(dist=219957) chr20 6187422 6187422 T G het . 2 +intergenic FERMT1(dist=91473),CASC20(dist=211715) chr20 6195664 6195664 C G het . 21 +intergenic FERMT1(dist=98236),CASC20(dist=204952) chr20 6202427 6202427 - T het . 2 +intergenic FERMT1(dist=101192),CASC20(dist=201996) chr20 6205383 6205383 C G het . 2 +intergenic FERMT1(dist=102706),CASC20(dist=200482) chr20 6206897 6206897 A G het . 2 +intergenic FERMT1(dist=108179),CASC20(dist=195009) chr20 6212370 6212370 G A het . 3 +intergenic FERMT1(dist=165075),CASC20(dist=138113) chr20 6269266 6269266 A - het . 2 +intergenic FERMT1(dist=168306),CASC20(dist=134882) chr20 6272497 6272497 C T het . 2 +intergenic FERMT1(dist=202032),CASC20(dist=101156) chr20 6306223 6306223 C T het . 2 +intergenic FERMT1(dist=218468),CASC20(dist=84720) chr20 6322659 6322659 G A het . 1 +intergenic FERMT1(dist=231811),CASC20(dist=71377) chr20 6336002 6336002 G A het . 2 +intergenic FERMT1(dist=247226),CASC20(dist=55962) chr20 6351417 6351417 A C het . 2 +ncRNA_intronic CASC20 chr20 6407866 6407866 G T het . 14 +ncRNA_intronic CASC20 chr20 6407912 6407912 A T het . 13 +ncRNA_intronic CASC20 chr20 6407950 6407950 G A het . 15 +ncRNA_intronic CASC20 chr20 6408114 6408114 A G het . 19 +ncRNA_intronic CASC20 chr20 6408201 6408201 G A het . 12 +ncRNA_intronic CASC20 chr20 6408421 6408421 C T het . 2 +ncRNA_intronic CASC20 chr20 6424857 6424857 C A het . 2 +ncRNA_intronic CASC20 chr20 6431393 6431393 C A het . 2 +ncRNA_intronic CASC20 chr20 6431457 6431457 A C het . 2 +ncRNA_intronic CASC20 chr20 6432618 6432618 T C het . 2 +ncRNA_intronic CASC20 chr20 6434843 6434843 C T het . 2 +ncRNA_intronic CASC20 chr20 6435676 6435676 G A het . 2 +ncRNA_intronic CASC20 chr20 6435698 6435698 C T het . 2 +ncRNA_intronic CASC20 chr20 6437613 6437613 T G het . 2 +ncRNA_intronic CASC20 chr20 6437967 6437967 C A het . 2 +intergenic CASC20(dist=77691),LINC01713(dist=124584) chr20 6586797 6586804 TCTTTCTT - het . 4 +intergenic CASC20(dist=77711),LINC01713(dist=124571) chr20 6586817 6586817 T C het . 4 +intergenic CASC20(dist=83316),LINC01713(dist=118966) chr20 6592422 6592422 C T het . 3 +intergenic CASC20(dist=112579),LINC01713(dist=89703) chr20 6621685 6621685 C T het . 2 +intergenic CASC20(dist=112611),LINC01713(dist=89671) chr20 6621717 6621717 T A het . 2 +intergenic CASC20(dist=116812),LINC01713(dist=85467) chr20 6625918 6625921 CCTT - het . 2 +intergenic CASC20(dist=164436),LINC01713(dist=37846) chr20 6673542 6673542 T C het . 1 +intergenic CASC20(dist=167249),LINC01713(dist=35033) chr20 6676355 6676355 C G het . 5 +intergenic CASC20(dist=171208),LINC01713(dist=31074) chr20 6680314 6680314 G A het . 2 +intergenic CASC20(dist=171213),LINC01713(dist=31069) chr20 6680319 6680319 G C het . 2 +intergenic BMP2(dist=30086),LINC01428(dist=336103) chr20 6791011 6791011 C T het . 2 +intergenic BMP2(dist=38014),LINC01428(dist=328175) chr20 6798939 6798939 G A het . 3 +intergenic BMP2(dist=61240),LINC01428(dist=304949) chr20 6822165 6822165 T G het . 2 +intergenic BMP2(dist=136192),LINC01428(dist=229997) chr20 6897117 6897117 T - het . 4 +intergenic BMP2(dist=139338),LINC01428(dist=226851) chr20 6900263 6900263 G A het . 2 +intergenic BMP2(dist=152678),LINC01428(dist=213511) chr20 6913603 6913603 T C het . 2 +intergenic BMP2(dist=153989),LINC01428(dist=212200) chr20 6914914 6914914 T C het . 1 +intergenic BMP2(dist=172868),LINC01428(dist=193321) chr20 6933793 6933793 G A het . 2 +intergenic BMP2(dist=179522),LINC01428(dist=186667) chr20 6940447 6940447 T C het . 2 +intergenic BMP2(dist=198907),LINC01428(dist=167282) chr20 6959832 6959832 C T het . 2 +intergenic BMP2(dist=203358),LINC01428(dist=162831) chr20 6964283 6964283 A G het . 2 +intergenic BMP2(dist=220181),LINC01428(dist=146008) chr20 6981106 6981106 A T het . 2 +intergenic BMP2(dist=229908),LINC01428(dist=136281) chr20 6990833 6990833 T C het . 2 +intergenic BMP2(dist=270092),LINC01428(dist=96097) chr20 7031017 7031017 A T het . 2 +intergenic BMP2(dist=274084),LINC01428(dist=92105) chr20 7035009 7035009 A T het . 2 +intergenic BMP2(dist=309017),LINC01428(dist=57172) chr20 7069942 7069942 T C het . 1 +intergenic BMP2(dist=319206),LINC01428(dist=46983) chr20 7080131 7080131 G A het . 2 +intergenic BMP2(dist=319932),LINC01428(dist=46257) chr20 7080857 7080857 T C het . 2 +intergenic BMP2(dist=323148),LINC01428(dist=43041) chr20 7084073 7084073 A G het . 1 +intergenic BMP2(dist=345183),LINC01428(dist=21006) chr20 7106108 7106108 C T het . 2 +ncRNA_intronic LINC01428 chr20 7147237 7147237 T - het . 2 +ncRNA_intronic LINC01428 chr20 7233568 7233568 G A het . 2 +intergenic LINC01428(dist=13338),LINC01751(dist=34549) chr20 7248187 7248187 G A het . 2 +intergenic LINC01428(dist=15498),LINC01751(dist=32389) chr20 7250347 7250347 C - het . 2 +intergenic MIR8062(dist=21909),HAO1(dist=489383) chr20 7374248 7374248 T C het . 3 +intergenic MIR8062(dist=105108),HAO1(dist=406184) chr20 7457447 7457447 C T het . 2 +intergenic MIR8062(dist=120124),HAO1(dist=391168) chr20 7472463 7472463 A G het . 2 +intergenic MIR8062(dist=163409),HAO1(dist=347883) chr20 7515748 7515748 G A het . 2 +intergenic MIR8062(dist=198983),HAO1(dist=312309) chr20 7551322 7551322 C T het . 3 +intergenic MIR8062(dist=226805),HAO1(dist=284487) chr20 7579144 7579144 A G het . 2 +intergenic MIR8062(dist=262937),HAO1(dist=248355) chr20 7615276 7615276 G A het . 2 +intergenic MIR8062(dist=270375),HAO1(dist=240913) chr20 7622714 7622718 TGTTT - het . 3 +intergenic MIR8062(dist=303973),HAO1(dist=207319) chr20 7656312 7656312 G A het . 2 +intergenic MIR8062(dist=317196),HAO1(dist=194096) chr20 7669535 7669535 A T het . 2 +intergenic MIR8062(dist=349245),HAO1(dist=162047) chr20 7701584 7701584 A G het . 2 +intergenic MIR8062(dist=357399),HAO1(dist=153893) chr20 7709738 7709738 A G het . 2 +intergenic MIR8062(dist=460011),HAO1(dist=51281) chr20 7812350 7812350 T C het . 3 +intergenic MIR8062(dist=484843),HAO1(dist=26449) chr20 7837182 7837182 C G het . 2 +intronic HAO1 chr20 7882757 7882757 T C het . 7 +intronic HAO1 chr20 7887025 7887025 G C het . 20 +intronic HAO1 chr20 7905050 7905050 A G het . 2 +intronic HAO1 chr20 7915517 7915517 C T het . 5 +upstream HAO1(dist=88) chr20 7921181 7921181 C A het . 8 +intergenic HAO1(dist=3640),TMX4(dist=33267) chr20 7924733 7924733 G A het . 2 +exonic TMX4 chr20 7980390 7980390 C T het . 8 +intronic TMX4 chr20 7980647 7980647 G C het . 5 +intronic TMX4 chr20 7999642 7999642 G A het . 12 +intergenic TMX4(dist=18438),PLCB1(dist=93998) chr20 8018914 8018914 A G het . 2 +exonic PLCB1 chr20 8130943 8130943 C T het . 13 +intronic PLCB1 chr20 8167016 8167016 A G het . 2 +intronic PLCB1 chr20 8176334 8176334 T C het . 2 +intronic PLCB1 chr20 8188337 8188337 C T het . 2 +intronic PLCB1 chr20 8210443 8210443 G A het . 2 +intronic PLCB1 chr20 8265656 8265656 A T het . 3 +intronic PLCB1 chr20 8354022 8354022 T G het . 2 +intronic PLCB1 chr20 8355039 8355039 G A het . 2 +intronic PLCB1 chr20 8384114 8384114 G A het . 3 +intronic PLCB1 chr20 8621604 8621604 A G het . 2 +intronic PLCB1 chr20 8626903 8626903 C T het . 13 +intronic PLCB1 chr20 8630253 8630253 C G het . 3 +intronic PLCB1 chr20 8632327 8632328 AG - het . 8 +intronic PLCB1 chr20 8637727 8637727 G A het . 6 +intronic PLCB1 chr20 8639443 8639443 T C het . 2 +intronic PLCB1 chr20 8670065 8670065 T C het . 2 +intronic PLCB1 chr20 8670942 8670942 A G het . 2 +intronic PLCB1 chr20 8697113 8697113 G T het . 5 +intronic PLCB1 chr20 8701385 8701385 T C het . 2 +intronic PLCB1 chr20 8702867 8702867 T C het . 6 +intronic PLCB1 chr20 8705496 8705496 A C het . 10 +intronic PLCB1 chr20 8705552 8705552 A T het . 10 +intronic PLCB1 chr20 8707900 8707900 A G het . 19 +intronic PLCB1 chr20 8707927 8707927 C T het . 16 +intronic PLCB1 chr20 8713842 8713842 G A het . 13 +intronic PLCB1 chr20 8717504 8717504 T C het . 5 +intronic PLCB1 chr20 8717526 8717526 A G het . 7 +intronic PLCB1 chr20 8719777 8719777 G A het . 7 +intronic PLCB1 chr20 8726603 8726603 G A het . 2 +exonic PLCB1 chr20 8737734 8737734 G A het . 19 +intronic PLCB1 chr20 8741247 8741247 C T het . 3 +exonic PLCB1 chr20 8755243 8755243 T C het . 25 +intronic PLCB1 chr20 8762432 8762432 A G het . 2 +intronic PLCB1 chr20 8769180 8769180 C T het . 21 +intronic PLCB1 chr20 8769423 8769423 T C het . 8 +intronic PLCB1 chr20 8770108 8770108 A C het . 4 +intronic PLCB1 chr20 8770130 8770130 A G het . 7 +intronic PLCB1 chr20 8770318 8770318 A G het . 4 +exonic PLCB1 chr20 8770822 8770822 C T het . 36 +intronic PLCB1 chr20 8770932 8770932 A C het . 19 +intronic PLCB1 chr20 8773096 8773096 C A het . 4 +intronic PLCB1 chr20 8773155 8773155 C T het . 15 +intronic PLCB1 chr20 8773295 8773295 T C het . 25 +intronic PLCB1 chr20 8773482 8773482 C G het . 3 +intronic PLCB1 chr20 8776330 8776330 G A het . 2 +intronic PLCB1 chr20 8778246 8778246 T A het . 2 +intronic PLCB1 chr20 8778747 8778747 G T het . 2 +intronic PLCB1 chr20 8782901 8782901 G C het . 2 +intronic PLCB1 chr20 8802780 8802780 G A het . 2 +intronic PLCB1 chr20 8812305 8812305 C G het . 3 +intronic PLCB1 chr20 8822308 8822308 G T het . 2 +intronic PLCB1 chr20 8824117 8824117 T C het . 2 +intronic PLCB1 chr20 8840064 8840064 C G het . 2 +intronic PLCB1 chr20 8840293 8840293 T C het . 3 +intronic PLCB1 chr20 8862157 8862157 - AGTT het . 12 +exonic PLCB1 chr20 8862307 8862307 C A het . 33 +intergenic PLCB1(dist=75410),PLCB4(dist=108743) chr20 8940957 8940958 GT AC het . 3 +intergenic PLCB1(dist=75421),PLCB4(dist=108733) chr20 8940968 8940968 T C het . 2 +intergenic PLCB1(dist=92713),PLCB4(dist=91441) chr20 8958260 8958260 C G het . 2 +intergenic PLCB1(dist=101588),PLCB4(dist=82566) chr20 8967135 8967135 T C het . 2 +intergenic PLCB1(dist=141667),PLCB4(dist=42487) chr20 9007214 9007214 G C het . 2 +intergenic PLCB1(dist=163949),PLCB4(dist=20205) chr20 9029496 9029496 A G het . 5 +intergenic PLCB1(dist=163978),PLCB4(dist=20176) chr20 9029525 9029525 A - het . 3 +intergenic PLCB1(dist=164194),PLCB4(dist=19960) chr20 9029741 9029741 T C het . 4 +intergenic PLCB1(dist=167098),PLCB4(dist=17053) chr20 9032645 9032648 TTTT - het . 2 +intergenic PLCB1(dist=167107),PLCB4(dist=17047) chr20 9032654 9032654 T G het . 2 +intergenic PLCB1(dist=167113),PLCB4(dist=17041) chr20 9032660 9032660 T G het . 2 +intergenic PLCB1(dist=167947),PLCB4(dist=16207) chr20 9033494 9033494 G A het . 2 +intronic PLCB4 chr20 9053120 9053120 G A het . 2 +intronic PLCB4 chr20 9058301 9058301 A G het . 2 +intronic PLCB4 chr20 9058995 9058995 C G het . 3 +intronic PLCB4 chr20 9059003 9059003 - TCTTT het . 3 +intronic PLCB4 chr20 9070082 9070082 A G het . 2 +intronic PLCB4 chr20 9096321 9096321 C T het . 2 +intronic PLCB4 chr20 9101108 9101111 CTTT - het . 2 +intronic PLCB4 chr20 9101165 9101165 A T het . 2 +intronic PLCB4 chr20 9108646 9108646 A G het . 2 +intronic PLCB4 chr20 9132068 9132068 G T het . 3 +intronic PLCB4 chr20 9132134 9132134 G A het . 2 +intronic PLCB4 chr20 9239389 9239389 T C het . 2 +exonic PLCB4 chr20 9288522 9288522 G A het . 25 +intronic PLCB4 chr20 9346202 9346202 A G het . 9 +intronic PLCB4 chr20 9364799 9364799 A G het . 9 +intronic PLCB4 chr20 9453567 9453567 T C het . 8 +intronic PLCB4 chr20 9453902 9453902 T - het . 5 +intronic PLCB4 chr20 9457170 9457170 C T het . 2 +intergenic PLCB4(dist=2658),LAMP5-AS1(dist=21707) chr20 9464120 9464120 A - het . 2 +intergenic PLCB4(dist=2662),LAMP5-AS1(dist=21703) chr20 9464124 9464124 C T het . 2 +intronic LAMP5 chr20 9497033 9497033 G C het . 8 +intronic LAMP5 chr20 9497057 9497057 A G het . 6 +intronic LAMP5 chr20 9510263 9510263 T A het . 8 +exonic PAK5 chr20 9543622 9543622 C T het . 10 +intronic PAK5 chr20 9543681 9543681 C T het . 7 +intronic PAK5 chr20 9543688 9543688 T G het . 7 +intronic PAK5 chr20 9547039 9547039 G A het . 4 +intronic PAK5 chr20 9601215 9601215 T C het . 2 +intronic PAK5 chr20 9602179 9602179 A T het . 3 +intronic PAK5 chr20 9617425 9617425 A G het . 2 +intronic PAK5 chr20 9624587 9624587 C T het . 4 +intronic PAK5 chr20 9625003 9625003 G A het . 15 +intronic PAK5 chr20 9625627 9625627 G T het . 2 +intronic PAK5 chr20 9631021 9631021 A C het . 2 +intronic PAK5 chr20 9631125 9631125 C T het . 2 +intronic PAK5 chr20 9648692 9648692 C T het . 2 +intronic PAK5 chr20 9685976 9685976 A G het . 2 +intronic PAK5 chr20 9710347 9710347 G A het . 2 +intronic PAK5 chr20 9718379 9718379 T G het . 1 +intronic PAK5 chr20 9762448 9762448 G A het . 2 +intergenic PAK5(dist=59021),PARAL1(dist=88273) chr20 9878708 9878708 T C het . 2 +intergenic PAK5(dist=65344),PARAL1(dist=81950) chr20 9885031 9885031 A T het . 2 +intergenic PAK5(dist=69518),PARAL1(dist=77776) chr20 9889205 9889205 T C het . 2 +ncRNA_intronic PARAL1 chr20 9969886 9969886 T A het . 2 +intergenic PARAL1(dist=9367),SNAP25-AS1(dist=7329) chr20 9997131 9997131 A G het . 1 +ncRNA_exonic SNAP25-AS1 chr20 10005010 10005010 C T het . 2 +ncRNA_intronic SNAP25-AS1 chr20 10009512 10009512 C G het . 2 +exonic ANKEF1 chr20 10019093 10019093 A G het . 11 +ncRNA_intronic SNAP25-AS1 chr20 10023689 10023689 G A het . 5 +ncRNA_intronic SNAP25-AS1 chr20 10023713 10023713 T A het . 5 +ncRNA_intronic SNAP25-AS1 chr20 10026357 10026357 T C het . 17 +exonic ANKEF1 chr20 10030188 10030188 T A het . 15 +exonic ANKEF1 chr20 10032413 10032413 T G het . 25 +ncRNA_intronic SNAP25-AS1 chr20 10082892 10082892 C T het . 2 +ncRNA_intronic SNAP25-AS1 chr20 10095433 10095435 TGA - het . 3 +ncRNA_intronic SNAP25-AS1 chr20 10108537 10108537 C T het . 3 +ncRNA_intronic SNAP25-AS1 chr20 10121684 10121684 C T het . 2 +ncRNA_intronic SNAP25-AS1 chr20 10134203 10134203 C T het . 3 +ncRNA_intronic SNAP25-AS1 chr20 10149176 10149176 A C het . 2 +ncRNA_intronic SNAP25-AS1 chr20 10177651 10177651 A G het . 2 +ncRNA_intronic SNAP25-AS1 chr20 10178022 10178022 G T het . 2 +ncRNA_intronic SNAP25-AS1 chr20 10178187 10178187 C A het . 2 +ncRNA_intronic SNAP25-AS1 chr20 10186372 10186372 T - het . 4 +ncRNA_intronic SNAP25-AS1 chr20 10187978 10187978 C T het . 2 +intronic SNAP25 chr20 10277452 10277452 A C het . 4 +exonic SNAP25 chr20 10277621 10277621 C T het . 10 +intergenic SNAP25(dist=1303),MKKS(dist=96057) chr20 10289371 10289371 G A het . 2 +intergenic SNAP25(dist=22381),MKKS(dist=74979) chr20 10310449 10310449 A G het . 2 +intergenic SNAP25(dist=41820),MKKS(dist=55540) chr20 10329888 10329888 T G het . 11 +intergenic SNAP25(dist=59086),MKKS(dist=38274) chr20 10347154 10347154 C T het . 2 +intergenic SNAP25(dist=60791),MKKS(dist=36569) chr20 10348859 10348859 T - het . 2 +intergenic SNAP25(dist=71632),MKKS(dist=25728) chr20 10359700 10359700 T - het . 3 +intergenic SNAP25(dist=78330),MKKS(dist=19030) chr20 10366398 10366398 G A het . 2 +intergenic SNAP25(dist=78830),MKKS(dist=18530) chr20 10366898 10366898 T C het . 28 +intergenic SNAP25(dist=79146),MKKS(dist=18214) chr20 10367214 10367214 A - het . 14 +intergenic SNAP25(dist=79255),MKKS(dist=18105) chr20 10367323 10367323 C G het . 33 +intergenic SNAP25(dist=79341),MKKS(dist=18019) chr20 10367409 10367409 C T het . 27 +intergenic SNAP25(dist=79841),MKKS(dist=17519) chr20 10367909 10367909 A C het . 32 +intergenic SNAP25(dist=93555),MKKS(dist=3805) chr20 10381623 10381623 T G het . 3 +intronic MKKS chr20 10390854 10390854 G A het . 3 +intronic MKKS chr20 10405970 10405970 G A het . 2 +intronic MKKS chr20 10410686 10410686 - A het . 2 +intronic SLX4IP chr20 10424566 10424566 A G het . 2 +intronic SLX4IP chr20 10425830 10425830 T C het . 2 +intronic SLX4IP chr20 10426734 10426734 T A het . 2 +intronic SLX4IP chr20 10428733 10428736 TGTT - het . 2 +intronic SLX4IP chr20 10428776 10428776 T C het . 3 +intronic SLX4IP chr20 10438780 10438780 A G het . 12 +intronic SLX4IP chr20 10439002 10439002 T A het . 5 +intronic SLX4IP chr20 10439037 10439037 A G het . 4 +intronic SLX4IP chr20 10449549 10449549 T C het . 2 +intronic SLX4IP chr20 10470922 10470922 A C het . 2 +intronic SLX4IP chr20 10479785 10479785 T A het . 2 +intronic SLX4IP chr20 10482387 10482387 T - het . 3 +intronic SLX4IP chr20 10501273 10501273 T G het . 2 +intronic SLX4IP chr20 10531212 10531212 G T het . 1 +intronic SLX4IP chr20 10547181 10547181 G C het . 2 +exonic JAG1 chr20 10620275 10620275 G A het . 19 +exonic JAG1 chr20 10620386 10620386 A G het . 34 +intronic JAG1 chr20 10622081 10622081 A - het . 24 +exonic JAG1 chr20 10622250 10622250 C A het . 14 +intronic JAG1 chr20 10622364 10622364 A G het . 30 +intronic JAG1 chr20 10622386 10622386 C A het . 31 +exonic JAG1 chr20 10622501 10622501 G C het . 21 +intronic JAG1 chr20 10623036 10623036 T - het . 10 +exonic JAG1 chr20 10625804 10625804 T G het . 30 +intronic JAG1 chr20 10629129 10629129 A C het . 24 +intronic JAG1 chr20 10629872 10629872 T G het . 8 +intronic JAG1 chr20 10636922 10636922 - T het . 18 +exonic JAG1 chr20 10637057 10637057 T C het . 27 +intronic JAG1 chr20 10639385 10639385 A G het . 14 +intronic JAG1 chr20 10644705 10644705 G A het . 28 +exonic JAG1 chr20 10653469 10653469 C T het . 34 +intergenic JAG1(dist=34790),LINC01752(dist=44301) chr20 10689437 10689437 C T het . 2 +intergenic JAG1(dist=36419),LINC01752(dist=42672) chr20 10691066 10691066 C T het . 5 +intergenic JAG1(dist=39878),LINC01752(dist=39213) chr20 10694525 10694525 A G het . 2 +intergenic JAG1(dist=43847),LINC01752(dist=35244) chr20 10698494 10698494 T C het . 2 +intergenic LINC01752(dist=73615),LOC101929413(dist=47691) chr20 10808290 10808290 A G het . 2 +ncRNA_intronic LOC101929413 chr20 10887314 10887314 T G het . 2 +intergenic LOC101929413(dist=39141),C20orf187(dist=78131) chr20 10929061 10929061 C T het . 3 +ncRNA_intronic C20orf187 chr20 11009342 11009342 - TTTTC het . 4 +intergenic C20orf187(dist=33122),LOC339593(dist=204171) chr20 11043136 11043136 G A het . 1 +intergenic C20orf187(dist=35246),LOC339593(dist=202047) chr20 11045260 11045260 C T het . 2 +intergenic C20orf187(dist=209796),LOC339593(dist=27497) chr20 11219810 11219810 G A het . 2 +intergenic C20orf187(dist=217683),LOC339593(dist=19610) chr20 11227697 11227697 T C het . 3 +intergenic LOC339593(dist=1697),LINC00687(dist=534907) chr20 11255728 11255728 C T het . 2 +intergenic LOC339593(dist=3258),LINC00687(dist=533346) chr20 11257289 11257289 T C het . 2 +intergenic LOC339593(dist=6308),LINC00687(dist=530296) chr20 11260339 11260339 A T het . 2 +intergenic LOC339593(dist=93654),LINC00687(dist=442950) chr20 11347685 11347685 A G het . 2 +intergenic LOC339593(dist=172699),LINC00687(dist=363905) chr20 11426730 11426730 A G het . 2 +intergenic LOC339593(dist=186122),LINC00687(dist=350482) chr20 11440153 11440153 T C het . 2 +intergenic LOC339593(dist=220448),LINC00687(dist=316156) chr20 11474479 11474479 T C het . 2 +intergenic LOC339593(dist=233617),LINC00687(dist=302987) chr20 11487648 11487648 C A het . 2 +intergenic LOC339593(dist=255190),LINC00687(dist=281414) chr20 11509221 11509221 A T het . 2 +intergenic LOC339593(dist=274510),LINC00687(dist=262094) chr20 11528541 11528541 G C het . 2 +intergenic LOC339593(dist=274760),LINC00687(dist=261844) chr20 11528791 11528791 - T het . 2 +intergenic LOC339593(dist=275052),LINC00687(dist=261552) chr20 11529083 11529083 G T het . 3 +intergenic LOC339593(dist=329957),LINC00687(dist=206647) chr20 11583988 11583988 G A het . 2 +intergenic LOC339593(dist=347649),LINC00687(dist=188955) chr20 11601680 11601680 A G het . 2 +intergenic LOC339593(dist=372169),LINC00687(dist=164435) chr20 11626200 11626200 C A het . 2 +intergenic LOC339593(dist=383482),LINC00687(dist=153122) chr20 11637513 11637513 G A het . 2 +intergenic LOC339593(dist=505818),LINC00687(dist=30786) chr20 11759849 11759849 A T het . 2 +downstream LINC00687(dist=771) chr20 11789864 11789864 C G het . 2 +ncRNA_intronic LINC00687 chr20 11802244 11802244 C T het . 2 +ncRNA_intronic LINC00687 chr20 11807011 11807011 A G het . 2 +ncRNA_intronic LINC00687 chr20 11820967 11820967 C T het . 2 +ncRNA_intronic LINC00687 chr20 11821582 11821582 G C het . 2 +ncRNA_intronic LINC00687 chr20 11824899 11824899 C A het . 3 +ncRNA_exonic LINC00687 chr20 11851347 11851347 C T het . 3 +intronic BTBD3 chr20 11875497 11875497 T C het . 2 +intronic BTBD3 chr20 11880521 11880521 A G het . 2 +intronic BTBD3 chr20 11901598 11901598 - T het . 2 +UTR3 BTBD3(NM_001282552:c.*371G>T,NM_181443:c.*371G>T,NM_001282550:c.*371G>T,NM_001282554:c.*371G>T,NM_001282551:c.*371G>T,NM_014962:c.*371G>T) chr20 11904685 11904685 G T het . 2 +intergenic BTBD3(dist=16129),LINC01722(dist=922480) chr20 11923372 11923372 C A het . 1 +intergenic BTBD3(dist=82512),LINC01722(dist=856097) chr20 11989755 11989755 T G het . 2 +intergenic BTBD3(dist=84645),LINC01722(dist=853964) chr20 11991888 11991888 A G het . 2 +intergenic BTBD3(dist=90080),LINC01722(dist=848529) chr20 11997323 11997323 A G het . 2 +intergenic BTBD3(dist=95672),LINC01722(dist=842937) chr20 12002915 12002915 A G het . 2 +intergenic BTBD3(dist=100026),LINC01722(dist=838583) chr20 12007269 12007269 A G het . 2 +intergenic BTBD3(dist=191302),LINC01722(dist=747307) chr20 12098545 12098545 - AATA het . 2 +intergenic BTBD3(dist=257913),LINC01722(dist=680695) chr20 12165156 12165157 TT - het . 2 +intergenic BTBD3(dist=257916),LINC01722(dist=680693) chr20 12165159 12165159 - C het . 2 +intergenic BTBD3(dist=272002),LINC01722(dist=666607) chr20 12179245 12179245 C T het . 2 +intergenic BTBD3(dist=310075),LINC01722(dist=628534) chr20 12217318 12217318 G A het . 2 +intergenic BTBD3(dist=356873),LINC01722(dist=581736) chr20 12264116 12264116 C A het . 3 +intergenic BTBD3(dist=455351),LINC01722(dist=483257) chr20 12362594 12362595 GG - het . 2 +intergenic BTBD3(dist=477268),LINC01722(dist=461341) chr20 12384511 12384511 - AAAC het . 2 +intergenic BTBD3(dist=651399),LINC01722(dist=287210) chr20 12558642 12558642 - C het . 2 +intergenic BTBD3(dist=689480),LINC01722(dist=249129) chr20 12596723 12596723 A G het . 2 +intergenic BTBD3(dist=731257),LINC01722(dist=207352) chr20 12638500 12638500 G A het . 2 +intergenic BTBD3(dist=770852),LINC01722(dist=167757) chr20 12678095 12678095 A G het . 2 +intergenic BTBD3(dist=804979),LINC01722(dist=133630) chr20 12712222 12712222 G T het . 3 +intergenic BTBD3(dist=806767),LINC01722(dist=131842) chr20 12714010 12714010 - AAAG het . 3 +intergenic BTBD3(dist=833279),LINC01722(dist=105330) chr20 12740522 12740522 A G het . 2 +intergenic BTBD3(dist=885840),LINC01722(dist=52769) chr20 12793083 12793083 A - het . 2 +intergenic BTBD3(dist=888157),LINC01722(dist=50452) chr20 12795400 12795400 C T het . 3 +intergenic BTBD3(dist=910789),LINC01722(dist=27820) chr20 12818032 12818032 C G het . 2 +ncRNA_intronic LINC01722 chr20 12847926 12847926 C T het . 2 +ncRNA_exonic LINC01722 chr20 12932996 12932996 C T het . 2 +UTR5 SPTLC3(NM_001349945:c.-15T>C,NM_018327:c.-15T>C) chr20 12989901 12989901 T C het . 9 +intronic SPTLC3 chr20 12990044 12990044 T C het . 8 +intronic SPTLC3 chr20 12990057 12990057 T A het . 6 +intronic SPTLC3 chr20 12990212 12990212 G A het . 2 +intronic SPTLC3 chr20 13001216 13001216 A G het . 2 +exonic SPTLC3 chr20 13029764 13029764 A C het . 15 +intronic SPTLC3 chr20 13029790 13029790 C T het . 14 +intronic SPTLC3 chr20 13029862 13029862 C T het . 13 +intronic SPTLC3 chr20 13029920 13029920 C G het . 9 +intronic SPTLC3 chr20 13032754 13032754 T A het . 2 +intronic SPTLC3 chr20 13034005 13034005 A C het . 2 +intronic SPTLC3 chr20 13034010 13034010 G T het . 2 +intronic SPTLC3 chr20 13034065 13034065 G A het . 2 +exonic SPTLC3 chr20 13053018 13053018 T G het . 13 +exonic SPTLC3 chr20 13053035 13053035 A G het . 9 +intronic SPTLC3 chr20 13054633 13054633 G A het . 7 +intronic SPTLC3 chr20 13060331 13060331 G A het . 4 +intronic SPTLC3 chr20 13074235 13074235 G A het . 16 +intronic SPTLC3 chr20 13074243 13074243 T A het . 11 +intronic SPTLC3 chr20 13090745 13090745 G C het . 5 +exonic SPTLC3 chr20 13134768 13134768 T C het . 17 +intronic SPTLC3 chr20 13136043 13136043 A T het . 1 +intronic ISM1 chr20 13223065 13223065 C T het . 2 +intronic ISM1 chr20 13223070 13223070 A G het . 2 +intergenic ISM1(dist=86525),TASP1(dist=2214) chr20 13367822 13367822 C A het . 3 +intronic TASP1 chr20 13470896 13470896 A - het . 2 +intronic TASP1 chr20 13475884 13475884 A G het . 2 +intronic TASP1 chr20 13476237 13476237 T A het . 2 +intronic TASP1 chr20 13509263 13509263 G A het . 11 +intronic TASP1 chr20 13509307 13509307 G C het . 3 +intronic TASP1 chr20 13514434 13514434 G C het . 4 +intronic TASP1 chr20 13537873 13537873 C T het . 4 +intronic TASP1 chr20 13538209 13538209 G A het . 2 +intronic TASP1 chr20 13561632 13561632 - A het . 14 +intronic TASP1 chr20 13565291 13565291 C T het . 2 +intronic TASP1 chr20 13595316 13595316 C T het . 13 +intergenic TASP1(dist=28484),ESF1(dist=46902) chr20 13648067 13648067 A G het . 3 +intergenic TASP1(dist=46987),ESF1(dist=28388) chr20 13666570 13666581 AGAGAGAAAGAA - het . 6 +intergenic TASP1(dist=69259),ESF1(dist=6127) chr20 13688842 13688842 C A het . 2 +UTR3 ESF1(NM_016649:c.*57A>G,NM_001276380:c.*57A>G) chr20 13695464 13695464 T C het . 15 +UTR3 ESF1(NM_016649:c.*23C>T,NM_001276380:c.*23C>T) chr20 13695498 13695498 G A het . 15 +exonic ESF1 chr20 13695607 13695607 T G het . 36 +intronic ESF1 chr20 13698006 13698006 T C het . 11 +intronic ESF1 chr20 13707802 13707802 T C het . 2 +intronic ESF1 chr20 13732631 13732631 T G het . 3 +intronic ESF1 chr20 13740283 13740283 G C het . 16 +intronic ESF1 chr20 13740632 13740632 T A het . 5 +exonic ESF1 chr20 13747441 13747441 A G het . 24 +intronic ESF1 chr20 13749606 13749606 T A het . 2 +intronic ESF1 chr20 13750448 13750448 - A het . 8 +intronic ESF1 chr20 13753124 13753124 A C het . 16 +intronic ESF1 chr20 13755996 13755996 T C het . 7 +intronic ESF1 chr20 13763896 13763896 - ATTA het . 8 +intronic NDUFAF5 chr20 13768079 13768079 T G het . 11 +intronic NDUFAF5 chr20 13769127 13769127 A G het . 10 +intronic NDUFAF5 chr20 13778878 13778878 C G het . 6 +intronic NDUFAF5 chr20 13782409 13782409 A G het . 10 +intronic NDUFAF5 chr20 13782455 13782455 C T het . 6 +intronic NDUFAF5 chr20 13789247 13789247 A G het . 3 +intronic NDUFAF5 chr20 13795018 13795018 A G het . 15 +UTR3 NDUFAF5(NM_024120:c.*820C>T,NM_001352407:c.*820C>T,NM_001352406:c.*820C>T,NM_001352403:c.*820C>T,NM_001039375:c.*820C>T) chr20 13798676 13798676 C T het . 33 +UTR3 NDUFAF5(NM_024120:c.*920T>C,NM_001352407:c.*920T>C,NM_001352406:c.*920T>C,NM_001352403:c.*920T>C,NM_001039375:c.*920T>C) chr20 13798776 13798776 T C het . 15 +intergenic NDUFAF5(dist=23296),SEL1L2(dist=7681) chr20 13822363 13822363 C T het . 2 +intergenic NDUFAF5(dist=29853),SEL1L2(dist=1120) chr20 13828920 13828924 AGAAG - het . 6 +downstream SEL1L2(dist=631) chr20 13829413 13829413 C T het . 1 +intronic SEL1L2 chr20 13834047 13834047 A C het . 2 +intronic SEL1L2 chr20 13845987 13845987 C T het . 11 +exonic SEL1L2 chr20 13847420 13847420 A G het . 16 +intronic SEL1L2 chr20 13851047 13851047 G A het . 5 +intronic SEL1L2 chr20 13868745 13868745 T C het . 10 +intronic SEL1L2 chr20 13896064 13896064 A G het . 3 +intronic SEL1L2 chr20 13910510 13910510 C T het . 3 +intronic SEL1L2 chr20 13912112 13912112 A C het . 6 +intronic SEL1L2 chr20 13912764 13912764 G A het . 2 +intronic SEL1L2 chr20 13913863 13913863 A C het . 2 +intronic SEL1L2 chr20 13920312 13920319 TTTTTTTT - het . 2 +intronic SEL1L2 chr20 13926156 13926156 C T het . 3 +intronic SEL1L2 chr20 13939633 13939633 G A het . 3 +intronic SEL1L2 chr20 13939892 13939892 G T het . 4 +intronic SEL1L2 chr20 13967958 13967964 TTTTTTT - het . 1 +intronic MACROD2 chr20 14062399 14062399 T C het . 2 +intronic MACROD2 chr20 14090141 14090141 A G het . 2 +intronic MACROD2 chr20 14098801 14098801 A G het . 2 +intronic MACROD2 chr20 14128212 14128212 C T het . 2 +intronic MACROD2 chr20 14128576 14128576 G T het . 3 +intronic MACROD2 chr20 14131910 14131910 T - het . 3 +intronic MACROD2 chr20 14134369 14134369 A G het . 2 +intronic MACROD2 chr20 14140502 14140502 T G het . 1 +intronic MACROD2 chr20 14155881 14155881 A G het . 2 +intronic MACROD2 chr20 14184822 14184822 G A het . 2 +intronic MACROD2 chr20 14262275 14262275 A C het . 2 +intronic MACROD2 chr20 14266305 14266305 T C het . 2 +intronic MACROD2 chr20 14268102 14268104 TTA - het . 2 +intronic MACROD2 chr20 14270644 14270644 A - het . 2 +intronic MACROD2 chr20 14270649 14270649 T C het . 2 +exonic FLRT3 chr20 14306953 14306953 G T het . 5 +intronic MACROD2 chr20 14360888 14360888 A G het . 2 +intronic MACROD2 chr20 14366546 14366546 A C het . 1 +intronic MACROD2 chr20 14394308 14394308 G A het . 2 +intronic MACROD2 chr20 14400744 14400744 A C het . 2 +intronic MACROD2 chr20 14449022 14449022 T G het . 2 +intronic MACROD2 chr20 14466145 14466145 G A het . 2 +intronic MACROD2 chr20 14467387 14467387 A T het . 2 +intronic MACROD2 chr20 14474363 14474363 - TCT het . 3 +intronic MACROD2 chr20 14475796 14475796 C A het . 2 +intronic MACROD2 chr20 14501223 14501223 A C het . 2 +intronic MACROD2 chr20 14506766 14506766 G A het . 2 +intronic MACROD2 chr20 14507610 14507610 G C het . 2 +intronic MACROD2 chr20 14508937 14508937 T - het . 2 +intronic MACROD2 chr20 14531527 14531528 TT - het . 2 +ncRNA_intronic MACROD2-IT1 chr20 14536862 14536862 T C het . 1 +ncRNA_intronic MACROD2-IT1 chr20 14537168 14537168 C T het . 2 +ncRNA_intronic MACROD2-IT1 chr20 14553846 14553846 C A het . 2 +intronic MACROD2 chr20 14644749 14644749 T G het . 2 +intronic MACROD2 chr20 14687324 14687324 C G het . 2 +intronic MACROD2 chr20 14708023 14708023 A T het . 2 +intronic MACROD2 chr20 14724600 14724600 C T het . 2 +intronic MACROD2 chr20 14741067 14741067 G C het . 2 +intronic MACROD2 chr20 14761085 14761085 G A het . 3 +intronic MACROD2 chr20 14817723 14817723 - CTC het . 3 +intronic MACROD2 chr20 14818197 14818197 G A het . 2 +intronic MACROD2 chr20 14830453 14830453 C T het . 5 +intronic MACROD2 chr20 14830596 14830596 C G het . 18 +intronic MACROD2 chr20 14849433 14849433 T G het . 2 +intronic MACROD2 chr20 14856906 14856906 - G het . 1 +ncRNA_intronic MACROD2-AS1 chr20 14875030 14875030 C T het . 2 +ncRNA_intronic MACROD2-AS1 chr20 14898603 14898603 G A het . 2 +ncRNA_intronic MACROD2-AS1 chr20 14904170 14904170 G A het . 3 +intronic MACROD2 chr20 14925275 14925275 T C het . 2 +intronic MACROD2 chr20 15034583 15034583 G T het . 4 +intronic MACROD2 chr20 15060077 15060077 C G het . 2 +intronic MACROD2 chr20 15096449 15096449 A T het . 2 +intronic MACROD2 chr20 15106185 15106185 G A het . 2 +intronic MACROD2 chr20 15113999 15113999 C A het . 2 +intronic MACROD2 chr20 15187909 15187909 A C het . 2 +intronic MACROD2 chr20 15210872 15210872 T C het . 3 +intronic MACROD2 chr20 15211056 15211056 G A het . 2 +intronic MACROD2 chr20 15220837 15220837 G A het . 2 +intronic MACROD2 chr20 15232284 15232284 T C het . 3 +intronic MACROD2 chr20 15241449 15241449 T A het . 2 +intronic MACROD2 chr20 15264242 15264242 T C het . 2 +intronic MACROD2 chr20 15309628 15309628 G A het . 2 +intronic MACROD2 chr20 15319973 15319973 T A het . 2 +intronic MACROD2 chr20 15320730 15320730 G A het . 5 +intronic MACROD2 chr20 15321706 15321706 A G het . 1 +intronic MACROD2 chr20 15323282 15323282 A G het . 3 +intronic MACROD2 chr20 15381648 15381648 G A het . 2 +intronic MACROD2 chr20 15398343 15398343 G A het . 4 +intronic MACROD2 chr20 15399707 15399707 T C het . 2 +intronic MACROD2 chr20 15450279 15450279 A C het . 2 +intronic MACROD2 chr20 15480308 15480308 G T het . 6 +intronic MACROD2 chr20 15480548 15480548 T A het . 15 +intronic MACROD2 chr20 15553902 15553902 G T het . 2 +intronic MACROD2 chr20 15556593 15556593 G A het . 2 +intronic MACROD2 chr20 15569714 15569714 C A het . 7 +intronic MACROD2 chr20 15605849 15605849 C T het . 3 +intronic MACROD2 chr20 15608247 15608247 T A het . 2 +intronic MACROD2 chr20 15620592 15620592 G A het . 2 +intronic MACROD2 chr20 15626740 15626740 G C het . 2 +intronic MACROD2 chr20 15668624 15668624 G A het . 2 +intronic MACROD2 chr20 15676056 15676056 C T het . 2 +intronic MACROD2 chr20 15684515 15684515 A G het . 2 +intronic MACROD2 chr20 15695891 15695891 A G het . 2 +intronic MACROD2 chr20 15709504 15709504 A G het . 1 +intronic MACROD2 chr20 15710357 15710357 C T het . 3 +intronic MACROD2 chr20 15716610 15716610 - AG het . 2 +intronic MACROD2 chr20 15786480 15786480 G C het . 2 +intronic MACROD2 chr20 15828838 15828838 C G het . 2 +intronic MACROD2 chr20 15844676 15844676 G C het . 3 +intronic MACROD2 chr20 15860625 15860625 C A het . 2 +intronic MACROD2 chr20 15860627 15860627 G T het . 2 +ncRNA_exonic LOC613266 chr20 15874325 15874325 A G het . 8 +ncRNA_intronic LOC613266 chr20 15878932 15878932 T C het . 2 +ncRNA_intronic LOC613266 chr20 15962055 15962055 G T het . 3 +exonic MACROD2 chr20 15967390 15967390 C T het . 9 +intronic MACROD2 chr20 15967533 15967533 G A het . 8 +intronic MACROD2 chr20 15997273 15997273 C T het . 2 +intronic MACROD2 chr20 16009257 16009257 T C het . 2 +intronic MACROD2 chr20 16022098 16022098 A T het . 2 +intergenic MACROD2(dist=11838),KIF16B(dist=207070) chr20 16045679 16045679 A G het . 2 +intergenic MACROD2(dist=46719),KIF16B(dist=172189) chr20 16080560 16080560 C T het . 2 +intergenic MACROD2(dist=99805),KIF16B(dist=119103) chr20 16133646 16133646 - A het . 3 +intergenic MACROD2(dist=99830),KIF16B(dist=119077) chr20 16133671 16133672 GG CA het . 2 +intergenic MACROD2(dist=101152),KIF16B(dist=117756) chr20 16134993 16134993 C A het . 2 +intergenic MACROD2(dist=162278),KIF16B(dist=56627) chr20 16196119 16196122 AAGA - het . 2 +intergenic MACROD2(dist=190024),KIF16B(dist=28884) chr20 16223865 16223865 T C het . 11 +intergenic MACROD2(dist=190081),KIF16B(dist=28827) chr20 16223922 16223922 T C het . 16 +intronic KIF16B chr20 16288615 16288615 C T het . 2 +intronic KIF16B chr20 16297472 16297472 T C het . 2 +intronic KIF16B chr20 16298609 16298609 C T het . 2 +intronic KIF16B chr20 16319583 16319583 A G het . 2 +intronic KIF16B chr20 16336847 16336847 C T het . 5 +exonic KIF16B chr20 16348186 16348186 C A het . 18 +intronic KIF16B chr20 16352235 16352235 A - het . 5 +exonic KIF16B chr20 16359567 16359567 A G het . 17 +intronic KIF16B chr20 16362053 16362056 TTGG - het . 3 +intronic KIF16B chr20 16407960 16407960 A C het . 9 +intronic KIF16B chr20 16408107 16408107 A G het . 2 +exonic KIF16B chr20 16410559 16410559 A T het . 27 +intronic KIF16B chr20 16410855 16410855 C T het . 4 +intronic KIF16B chr20 16474865 16474865 A - het . 7 +intronic KIF16B chr20 16475112 16475112 G A het . 11 +exonic KIF16B chr20 16486698 16486698 G A het . 30 +exonic KIF16B chr20 16493533 16493533 T C het . 21 +intronic KIF16B chr20 16496362 16496362 T A het . 20 +intronic KIF16B chr20 16496415 16496415 T C het . 11 +intronic KIF16B chr20 16506427 16506427 T C het . 2 +intronic KIF16B chr20 16553754 16553754 G A het . 4 +UTR5 KIF16B(NM_001199865:c.-147T>C,NM_024704:c.-147T>C,NM_001199866:c.-147T>C) chr20 16554067 16554067 A G het . 2 +intergenic KIF16B(dist=12426),SNRPB2(dist=144104) chr20 16566505 16566505 C A het . 2 +intergenic KIF16B(dist=16086),SNRPB2(dist=140444) chr20 16570165 16570165 T C het . 2 +intergenic KIF16B(dist=16094),SNRPB2(dist=140436) chr20 16570173 16570173 C T het . 2 +intergenic KIF16B(dist=20796),SNRPB2(dist=135734) chr20 16574875 16574875 C A het . 2 +intronic SNRPB2 chr20 16712280 16712280 C T het . 18 +intronic SNRPB2 chr20 16713144 16713144 T G het . 3 +intronic SNRPB2 chr20 16719754 16719754 T G het . 8 +intronic SNRPB2 chr20 16720802 16720802 G A het . 7 +UTR5 OTOR(NM_020157:c.-31C>G) chr20 16729016 16729016 C G het . 12 +exonic OTOR chr20 16729048 16729048 T C het . 16 +intronic OTOR chr20 16729262 16729262 C T het . 8 +intronic OTOR chr20 16729654 16729654 - AGATG het . 7 +intronic OTOR chr20 16730464 16730464 T C het . 5 +intergenic OTOR(dist=20109),PCSK2(dist=453834) chr20 16752918 16752918 - T het . 2 +intergenic OTOR(dist=20232),PCSK2(dist=453711) chr20 16753041 16753041 T C het . 2 +intergenic OTOR(dist=22622),PCSK2(dist=451318) chr20 16755431 16755434 AAAG - het . 5 +intergenic OTOR(dist=22826),PCSK2(dist=451117) chr20 16755635 16755635 C A het . 3 +intergenic OTOR(dist=44623),PCSK2(dist=429320) chr20 16777432 16777432 C T het . 2 +intergenic OTOR(dist=66105),PCSK2(dist=407838) chr20 16798914 16798914 C G het . 2 +intergenic OTOR(dist=97263),PCSK2(dist=376680) chr20 16830072 16830072 C A het . 2 +intergenic OTOR(dist=123872),PCSK2(dist=350071) chr20 16856681 16856681 G A het . 2 +intergenic OTOR(dist=131825),PCSK2(dist=342118) chr20 16864634 16864634 G A het . 2 +intergenic OTOR(dist=145163),PCSK2(dist=328780) chr20 16877972 16877972 A G het . 2 +intergenic OTOR(dist=174620),PCSK2(dist=299323) chr20 16907429 16907429 A C het . 2 +intergenic OTOR(dist=198241),PCSK2(dist=275702) chr20 16931050 16931050 A G het . 2 +intergenic OTOR(dist=232593),PCSK2(dist=241350) chr20 16965402 16965402 T C het . 2 +intergenic OTOR(dist=244245),PCSK2(dist=229698) chr20 16977054 16977054 A G het . 2 +intergenic OTOR(dist=276118),PCSK2(dist=197825) chr20 17008927 17008927 C T het . 2 +intergenic OTOR(dist=306139),PCSK2(dist=167804) chr20 17038948 17038948 G T het . 1 +intergenic OTOR(dist=306156),PCSK2(dist=167787) chr20 17038965 17038965 C T het . 2 +intergenic OTOR(dist=345666),PCSK2(dist=128277) chr20 17078475 17078475 G C het . 2 +intergenic OTOR(dist=347179),PCSK2(dist=126764) chr20 17079988 17079988 C T het . 3 +intergenic OTOR(dist=370051),PCSK2(dist=103892) chr20 17102860 17102860 T C het . 2 +intergenic OTOR(dist=370385),PCSK2(dist=103558) chr20 17103194 17103194 A G het . 2 +intergenic OTOR(dist=404180),PCSK2(dist=69763) chr20 17136989 17136989 G T het . 2 +intergenic OTOR(dist=420254),PCSK2(dist=53689) chr20 17153063 17153063 G A het . 2 +intergenic OTOR(dist=422088),PCSK2(dist=51855) chr20 17154897 17154897 T C het . 3 +intronic PCSK2 chr20 17338783 17338783 T C het . 2 +intronic PCSK2 chr20 17374107 17374107 A - het . 3 +intronic PCSK2 chr20 17389824 17389824 T G het . 6 +intronic PCSK2 chr20 17389830 17389830 T C het . 6 +intronic PCSK2 chr20 17409955 17409955 C T het . 7 +intronic PCSK2 chr20 17409972 17409972 T C het . 11 +intronic PCSK2 chr20 17410018 17410018 A G het . 12 +exonic PCSK2 chr20 17417513 17417513 C T het . 6 +exonic PCSK2 chr20 17434572 17434572 C T het . 20 +intronic PCSK2 chr20 17436895 17436895 G A het . 1 +intronic PCSK2 chr20 17459928 17459928 A T het . 13 +exonic BFSP1 chr20 17474968 17474968 T C het . 3 +exonic BFSP1 chr20 17475217 17475217 C T het . 22 +exonic BFSP1 chr20 17475279 17475279 C A het . 16 +exonic BFSP1 chr20 17477592 17477592 C T het . 7 +intronic BFSP1 chr20 17486006 17486006 C T het . 2 +intronic BFSP1 chr20 17539168 17539168 A G het . 16 +intronic BFSP1 chr20 17540166 17540166 T C het . 2 +intronic BFSP1 chr20 17543337 17543337 C T het . 2 +intronic DSTN chr20 17571987 17571987 T - het . 2 +intronic DSTN chr20 17585552 17585552 G A het . 3 +intronic DSTN chr20 17586287 17586287 A C het . 2 +UTR3 RRBP1(NM_004587:c.*112delG,NM_001042576:c.*112delG) chr20 17594715 17594715 C - het . 2 +intronic RRBP1 chr20 17595329 17595329 G A het . 3 +intronic RRBP1 chr20 17597361 17597361 A G het . 3 +intronic RRBP1 chr20 17599214 17599214 T C het . 15 +intronic RRBP1 chr20 17600232 17600232 G A het . 4 +exonic RRBP1 chr20 17600357 17600357 G A het . 12 +intronic RRBP1 chr20 17602028 17602028 T C het . 3 +exonic RRBP1 chr20 17605240 17605240 A T het . 12 +intronic RRBP1 chr20 17622385 17622385 G A het . 4 +intronic RRBP1 chr20 17640436 17640436 C G het . 19 +intronic RRBP1 chr20 17646928 17646928 T A het . 2 +intronic BANF2 chr20 17705664 17705664 G A het . 11 +exonic BANF2 chr20 17705677 17705677 A G het . 15 +intronic BANF2 chr20 17705849 17705849 C T het . 10 +exonic BANF2 chr20 17716416 17716416 C G het . 14 +intergenic BANF2(dist=7032),SNX5(dist=198691) chr20 17723549 17723549 G C het . 1 +intergenic BANF2(dist=47493),SNX5(dist=158230) chr20 17764010 17764010 G C het . 2 +intergenic BANF2(dist=54596),SNX5(dist=151127) chr20 17771113 17771113 A G het . 2 +intergenic BANF2(dist=54620),SNX5(dist=151103) chr20 17771137 17771137 T C het . 2 +intergenic BANF2(dist=86216),SNX5(dist=119507) chr20 17802733 17802733 C T het . 2 +intergenic BANF2(dist=100788),SNX5(dist=104935) chr20 17817305 17817305 C A het . 2 +intergenic BANF2(dist=134261),SNX5(dist=71462) chr20 17850778 17850778 T C het . 2 +intergenic BANF2(dist=155607),SNX5(dist=50116) chr20 17872124 17872124 A C het . 2 +intergenic BANF2(dist=172993),SNX5(dist=32730) chr20 17889510 17889510 C T het . 2 +intergenic BANF2(dist=188302),SNX5(dist=17421) chr20 17904819 17904819 G T het . 2 +intergenic BANF2(dist=192975),SNX5(dist=12748) chr20 17909492 17909492 C T het . 2 +intergenic BANF2(dist=196021),SNX5(dist=9702) chr20 17912538 17912538 T A het . 2 +exonic SNX5 chr20 17932210 17932210 C T het . 27 +intronic SNX5 chr20 17934001 17934001 T C het . 2 +intronic SNX5 chr20 17934018 17934018 T C het . 2 +intronic SNX5 chr20 17937801 17937801 T C het . 8 +ncRNA_exonic SNORD17 chr20 17943492 17943492 A T het . 17 +exonic MGME1 chr20 17968923 17968923 T C het . 12 +exonic MGME1 chr20 17970672 17970672 A G het . 23 +intergenic MGME1(dist=7349),OVOL2(dist=25682) chr20 17979114 17979114 T G het . 1 +intronic OVOL2 chr20 18005600 18005600 A C het . 6 +intronic OVOL2 chr20 18022171 18022171 C T het . 5 +intergenic OVOL2(dist=6332),PET117(dist=72335) chr20 18046164 18046164 C A het . 1 +intergenic OVOL2(dist=6737),PET117(dist=71930) chr20 18046569 18046569 T A het . 3 +intronic PET117 chr20 18118740 18118740 T G het . 3 +intronic PET117 chr20 18122542 18122542 A C het . 4 +UTR5;UTR3 KAT14(NM_020536:c.-220del-);PET117(NM_001164811:c.*84delT) chr20 18123085 18123085 T - het . 6 +intronic KAT14 chr20 18125771 18125773 AAG - het . 2 +intronic KAT14 chr20 18131620 18131620 G A het . 13 +splicing KAT14(NM_020536:exon5:c.683-2A>G) chr20 18142462 18142462 A G het . 15 +exonic KAT14 chr20 18143117 18143117 T G het . 23 +intronic KAT14 chr20 18165137 18165137 T G het . 2 +intronic KAT14 chr20 18165487 18165487 C A het . 11 +exonic KAT14 chr20 18167977 18167977 T C het . 10 +intergenic KAT14(dist=19954),ZNF133(dist=79887) chr20 18188985 18188985 G A het . 3 +intergenic KAT14(dist=47798),ZNF133(dist=52043) chr20 18216829 18216829 T C het . 2 +intergenic KAT14(dist=71455),ZNF133(dist=28386) chr20 18240486 18240486 A - het . 2 +intronic ZNF133 chr20 18282897 18282897 A T het . 2 +intronic ZNF133 chr20 18286888 18286888 G A het . 11 +intronic ZNF133 chr20 18291064 18291064 C T het . 6 +intronic ZNF133 chr20 18291106 18291106 G A het . 7 +intronic ZNF133 chr20 18291160 18291160 G A het . 3 +intronic ZNF133 chr20 18294804 18294804 A G het . 2 +exonic ZNF133 chr20 18296072 18296072 T A het . 16 +intergenic ZNF133(dist=3967),LINC00851(dist=58086) chr20 18301607 18301607 A G het . 2 +intergenic ZNF133(dist=6885),LINC00851(dist=55168) chr20 18304525 18304525 C T het . 2 +intergenic ZNF133(dist=13127),LINC00851(dist=48926) chr20 18310767 18310767 G A het . 2 +intergenic ZNF133(dist=15764),LINC00851(dist=46289) chr20 18313404 18313404 G A het . 2 +intergenic ZNF133(dist=29466),LINC00851(dist=32587) chr20 18327106 18327106 C T het . 3 +intergenic ZNF133(dist=29805),LINC00851(dist=32248) chr20 18327445 18327445 C T het . 3 +intergenic ZNF133(dist=29930),LINC00851(dist=32123) chr20 18327570 18327570 G A het . 3 +intergenic ZNF133(dist=37785),LINC00851(dist=24268) chr20 18335425 18335425 - A het . 2 +intergenic ZNF133(dist=41983),LINC00851(dist=20070) chr20 18339623 18339623 T C het . 2 +intergenic ZNF133(dist=53743),LINC00851(dist=8310) chr20 18351383 18351383 T C het . 2 +upstream LINC00851(dist=275) chr20 18359418 18359418 T A het . 2 +upstream LINC00851(dist=270) chr20 18359423 18359423 C T het . 2 +ncRNA_exonic LINC00851 chr20 18361603 18361603 T C het . 25 +intronic DZANK1 chr20 18390569 18390569 T C het . 2 +exonic DZANK1 chr20 18393312 18393312 C G het . 19 +intronic DZANK1 chr20 18393499 18393499 C T het . 5 +exonic DZANK1 chr20 18395988 18395988 C T het . 3 +exonic DZANK1 chr20 18414356 18414356 A G het . 14 +intronic DZANK1 chr20 18417911 18417911 T C het . 2 +intronic DZANK1 chr20 18429497 18429497 T C het . 2 +intronic DZANK1 chr20 18432690 18432690 T A het . 5 +intronic DZANK1 chr20 18434214 18434214 A T het . 3 +intronic DZANK1 chr20 18437351 18437351 T - het . 2 +intronic DZANK1 chr20 18440679 18440679 T A het . 2 +intronic DZANK1 chr20 18445268 18445268 G T het . 2 +exonic DZANK1 chr20 18445963 18445963 A G het . 18 +splicing DZANK1(NM_001351683:exon2:c.7-1G>T) chr20 18446024 18446024 C A het . 2 +UTR5 POLR3F(NM_001282526:c.-1570C>A,NM_006466:c.-72C>A) chr20 18448079 18448079 C A het . 10 +intronic POLR3F chr20 18460614 18460614 A T het . 3 +intronic POLR3F chr20 18461238 18461238 T - het . 6 +exonic POLR3F chr20 18462421 18462421 A G het . 8 +intronic POLR3F chr20 18462492 18462492 A G het . 2 +intronic POLR3F chr20 18462518 18462518 C G het . 2 +intronic POLR3F chr20 18464110 18464110 T C het . 14 +UTR3 POLR3F(NM_001282526:c.*1042T>C,NM_006466:c.*1042T>C) chr20 18465244 18465244 T C het . 4 +downstream RBBP9(dist=842) chr20 18466346 18466346 G A het . 2 +downstream RBBP9(dist=627) chr20 18466560 18466561 AA - het . 14 +intronic RBBP9 chr20 18470664 18470664 A G het . 7 +intronic RBBP9 chr20 18470980 18470980 A G het . 3 +intronic RBBP9 chr20 18474566 18474566 C G het . 2 +UTR5 RBBP9(NM_006606:c.-59A>T) chr20 18477870 18477870 T A het . 11 +intergenic RBBP9(dist=7525),SEC23B(dist=2714) chr20 18485412 18485412 C G het . 19 +intronic SEC23B chr20 18496123 18496123 G T het . 5 +intronic SEC23B chr20 18505403 18505403 G C het . 21 +intronic SEC23B chr20 18506616 18506617 TG CA het . 28 +intronic SEC23B chr20 18506825 18506825 C G het . 2 +intronic SEC23B chr20 18511174 18511174 T C het . 15 +intronic SEC23B chr20 18511456 18511456 A G het . 22 +intronic SEC23B chr20 18511459 18511460 TT - het . 17 +intronic SEC23B chr20 18511504 18511504 T C het . 22 +intronic SEC23B chr20 18516086 18516086 T C het . 3 +intronic SEC23B chr20 18516588 18516588 T C het . 3 +intronic SEC23B chr20 18523864 18523864 C T het . 12 +intronic SEC23B chr20 18526024 18526024 G C het . 2 +intronic SEC23B chr20 18526046 18526046 C T het . 2 +intronic SEC23B chr20 18526055 18526055 C T het . 2 +intronic SEC23B chr20 18529107 18529107 G C het . 2 +intronic SEC23B chr20 18535502 18535502 T C het . 3 +intronic SEC23B chr20 18535982 18535982 A G het . 6 +intronic SEC23B chr20 18541097 18541097 A G het . 4 +intronic SMIM26 chr20 18548294 18548294 C - het . 5 +intronic SMIM26 chr20 18549444 18549444 A G het . 2 +UTR3 SMIM26(NM_001348958:c.*170delT,NM_001348957:c.*170delT) chr20 18550219 18550219 T - het . 4 +downstream SMIM26(dist=807) chr20 18551062 18551062 C A het . 2 +intronic DTD1 chr20 18570964 18570965 GC AG het . 2 +intronic DTD1 chr20 18576014 18576014 G A het . 2 +intronic DTD1 chr20 18576912 18576912 C G het . 6 +intronic DTD1 chr20 18577259 18577259 A G het . 2 +intronic DTD1 chr20 18596986 18596986 A C het . 2 +intronic DTD1 chr20 18597246 18597246 G A het . 2 +intronic DTD1 chr20 18608945 18608945 G C het . 3 +intronic DTD1 chr20 18609602 18609602 C T het . 2 +intronic DTD1 chr20 18623160 18623160 A G het . 2 +intronic DTD1 chr20 18623341 18623341 C G het . 2 +intronic DTD1 chr20 18623837 18623837 T G het . 2 +intronic DTD1 chr20 18626861 18626861 G T het . 3 +intronic DTD1 chr20 18647321 18647321 A G het . 2 +ncRNA_intronic LOC101929526 chr20 18670836 18670841 TTTGTT - het . 2 +ncRNA_intronic LOC101929526 chr20 18677882 18677882 C A het . 1 +intronic DTD1 chr20 18694349 18694349 G A het . 2 +intergenic DTD1(dist=4394),LINC00652(dist=19657) chr20 18748954 18748958 TCTAT - het . 2 +intergenic DTD1(dist=13566),LINC00652(dist=10489) chr20 18758126 18758126 G T het . 2 +intergenic C20orf78(dist=125292),SLC24A3(dist=257151) chr20 18936139 18936139 A T het . 2 +intergenic C20orf78(dist=126378),SLC24A3(dist=256065) chr20 18937225 18937225 G A het . 2 +intergenic C20orf78(dist=128058),SLC24A3(dist=254385) chr20 18938905 18938905 A T het . 3 +intergenic C20orf78(dist=146246),SLC24A3(dist=236197) chr20 18957093 18957093 G A het . 3 +intergenic C20orf78(dist=278349),SLC24A3(dist=104094) chr20 19089196 19089196 G A het . 3 +intergenic C20orf78(dist=314163),SLC24A3(dist=68280) chr20 19125010 19125010 T C het . 2 +intergenic C20orf78(dist=335261),SLC24A3(dist=47182) chr20 19146108 19146108 G C het . 2 +intergenic C20orf78(dist=342076),SLC24A3(dist=40367) chr20 19152923 19152923 - AAAAG het . 2 +intronic SLC24A3 chr20 19213778 19213778 A G het . 2 +exonic SLC24A3 chr20 19261623 19261623 G A het . 17 +intronic SLC24A3 chr20 19291868 19291868 C T het . 3 +intronic SLC24A3 chr20 19323729 19323729 G A het . 2 +intronic SLC24A3 chr20 19335482 19335483 TA CC het . 1 +intronic SLC24A3 chr20 19345285 19345285 C T het . 2 +intronic SLC24A3 chr20 19353257 19353257 C T het . 2 +intronic SLC24A3 chr20 19388983 19388983 T A het . 2 +intronic SLC24A3 chr20 19450035 19450035 C G het . 2 +intronic SLC24A3 chr20 19521190 19521190 C T het . 2 +intronic SLC24A3 chr20 19533356 19533356 A G het . 2 +intronic SLC24A3 chr20 19533453 19533453 C T het . 2 +intronic SLC24A3 chr20 19538116 19538116 A G het . 2 +intronic SLC24A3 chr20 19548524 19548524 A G het . 3 +intronic SLC24A3 chr20 19560556 19560556 A - het . 2 +exonic SLC24A3 chr20 19560664 19560664 G A het . 16 +intronic SLC24A3 chr20 19595706 19595706 - G het . 2 +intronic SLC24A3 chr20 19610736 19610736 G A het . 2 +intronic SLC24A3 chr20 19621399 19621399 T A het . 2 +intronic SLC24A3 chr20 19632690 19632690 - G het . 2 +exonic SLC24A3 chr20 19634732 19634732 G A het . 9 +exonic SLC24A3 chr20 19634747 19634747 T C het . 9 +intronic SLC24A3 chr20 19644939 19644939 A T het . 2 +intronic SLC24A3 chr20 19667456 19667456 C A het . 2 +intronic SLC24A3 chr20 19673767 19673767 T C het . 2 +intronic SLC24A3 chr20 19673771 19673771 A G het . 2 +intronic SLC24A3 chr20 19673859 19673859 - TTA het . 17 +intronic SLC24A3 chr20 19674142 19674142 T G het . 2 +intronic SLC24A3 chr20 19681987 19681987 A G het . 2 +intronic SLC24A3 chr20 19682001 19682001 - A het . 2 +intronic SLC24A3 chr20 19687049 19687049 G T het . 2 +intergenic SLC24A3(dist=10868),RIN2(dist=152756) chr20 19714409 19714409 A G het . 2 +intergenic SLC24A3(dist=49303),RIN2(dist=114321) chr20 19752844 19752844 A T het . 2 +intergenic SLC24A3(dist=54014),RIN2(dist=109610) chr20 19757555 19757555 C G het . 2 +intergenic SLC24A3(dist=87061),RIN2(dist=76563) chr20 19790602 19790602 G A het . 2 +intergenic SLC24A3(dist=112178),RIN2(dist=51446) chr20 19815719 19815719 - AGAA het . 3 +intergenic SLC24A3(dist=115099),RIN2(dist=48525) chr20 19818640 19818640 G A het . 2 +intergenic SLC24A3(dist=148285),RIN2(dist=15339) chr20 19851826 19851826 T A het . 2 +intronic RIN2 chr20 19868975 19868975 T C het . 1 +intronic RIN2 chr20 19868977 19868977 G C het . 1 +intronic RIN2 chr20 19872195 19872195 C T het . 3 +intronic RIN2 chr20 19873224 19873227 TCTT - het . 3 +intronic RIN2 chr20 19875040 19875040 A T het . 3 +intronic RIN2 chr20 19886092 19886092 C T het . 2 +intronic RIN2 chr20 19887960 19887960 T C het . 2 +intronic RIN2 chr20 19891044 19891044 - CA het . 2 +intronic RIN2 chr20 19905663 19905663 G A het . 2 +intronic RIN2 chr20 19945493 19945493 T C het . 6 +exonic RIN2 chr20 19951534 19951534 T A het . 18 +intronic RIN2 chr20 19966683 19966683 G A het . 2 +upstream NAA20(dist=653) chr20 19997281 19997281 T A het . 3 +exonic NAA20 chr20 20006368 20006368 T C het . 17 +intronic CRNKL1 chr20 20020213 20020213 C T het . 9 +intronic CRNKL1 chr20 20021301 20021301 T C het . 10 +intronic CRNKL1 chr20 20028830 20028830 C T het . 4 +intronic CRNKL1 chr20 20029854 20029854 G - het . 4 +exonic CRNKL1 chr20 20032998 20032998 T C het . 28 +exonic CRNKL1 chr20 20033137 20033137 T A het . 32 +exonic CRNKL1 chr20 20033242 20033242 A T het . 23 +exonic CRNKL1 chr20 20033319 20033319 A G het . 15 +exonic;splicing CRNKL1;CRNKL1(NM_001278626:exon2:UTR5,NM_001278625:exon2:c.68-1G>C) chr20 20033367 20033367 C G het . 4 +exonic CRNKL1 chr20 20033380 20033380 A G het . 4 +intronic CFAP61 chr20 20037222 20037222 T C het . 7 +intronic CFAP61 chr20 20050397 20050397 G A het . 25 +intronic CFAP61 chr20 20056038 20056038 - A het . 16 +intronic CFAP61 chr20 20065045 20065045 - CTG het . 16 +intronic CFAP61 chr20 20071634 20071634 T C het . 11 +intronic CFAP61 chr20 20079500 20079500 A G het . 5 +intronic CFAP61 chr20 20094650 20094650 T C het . 3 +intronic CFAP61 chr20 20100928 20100928 T C het . 2 +intronic CFAP61 chr20 20117107 20117107 A C het . 2 +intronic CFAP61 chr20 20128530 20128530 C G het . 2 +intronic CFAP61 chr20 20131899 20131899 T C het . 2 +intronic CFAP61 chr20 20132543 20132543 G A het . 2 +intronic CFAP61 chr20 20136365 20136365 G A het . 3 +intronic CFAP61 chr20 20139952 20139952 C - het . 15 +intronic CFAP61 chr20 20140196 20140196 T C het . 7 +intronic CFAP61 chr20 20143883 20143883 A G het . 2 +exonic CFAP61 chr20 20144772 20144772 G A het . 7 +intronic CFAP61 chr20 20146875 20146875 C T het . 2 +intronic CFAP61 chr20 20147304 20147304 C G het . 7 +intronic CFAP61 chr20 20149676 20149676 G A het . 3 +intronic CFAP61 chr20 20149758 20149758 A C het . 7 +intronic CFAP61 chr20 20149769 20149769 C T het . 10 +intronic CFAP61 chr20 20150182 20150182 A T het . 4 +UTR3 CFAP61(NM_001167816:c.*10A>C) chr20 20152462 20152462 A C het . 14 +intronic CFAP61 chr20 20153034 20153034 C T het . 2 +intronic CFAP61 chr20 20158062 20158062 G A het . 2 +intronic CFAP61 chr20 20168497 20168497 A G het . 3 +exonic CFAP61 chr20 20257958 20257958 C T het . 13 +intronic CFAP61 chr20 20260065 20260065 C A het . 2 +intronic CFAP61 chr20 20316206 20316206 A G het . 2 +intronic CFAP61 chr20 20324287 20324287 C T het . 3 +intronic CFAP61 chr20 20328185 20328185 A G het . 2 +intronic CFAP61 chr20 20340337 20340337 - ACAACC het . 5 +intergenic CFAP61(dist=2964),INSM1(dist=4455) chr20 20344310 20344310 G T het . 2 +intronic RALGAPA2 chr20 20377421 20377421 - C het . 6 +intronic RALGAPA2 chr20 20554965 20554965 G A het . 2 +intronic RALGAPA2 chr20 20572016 20572016 A C het . 7 +intronic RALGAPA2 chr20 20592183 20592183 C A het . 8 +intronic RALGAPA2 chr20 20634687 20634687 C G het . 2 +intronic RALGAPA2 chr20 20681198 20681198 - A het . 2 +intergenic RALGAPA2(dist=186268),LINC00237(dist=188711) chr20 20879534 20879534 A G het . 6 +intergenic RALGAPA2(dist=233441),LINC00237(dist=141538) chr20 20926707 20926707 G C het . 3 +intergenic RALGAPA2(dist=258658),LINC00237(dist=116321) chr20 20951924 20951924 T C het . 2 +intergenic RALGAPA2(dist=270466),LINC00237(dist=104513) chr20 20963732 20963732 T G het . 2 +intergenic RALGAPA2(dist=310291),LINC00237(dist=64688) chr20 21003557 21003557 T C het . 2 +intergenic LINC00237(dist=8596),KIZ(dist=11021) chr20 21095595 21095595 T G het . 12 +intergenic LINC00237(dist=8937),KIZ(dist=10680) chr20 21095936 21095936 A G het . 12 +intergenic LINC00237(dist=8965),KIZ(dist=10652) chr20 21095964 21095964 C A het . 8 +intergenic LINC00237(dist=8978),KIZ(dist=10639) chr20 21095977 21095977 C A het . 6 +intronic KIZ chr20 21118716 21118716 - TAT het . 2 +intronic KIZ chr20 21126194 21126194 C G het . 15 +exonic KIZ chr20 21142523 21142523 C G het . 5 +exonic KIZ chr20 21142813 21142813 T C het . 6 +intronic KIZ chr20 21143935 21143935 G T het . 2 +intronic KIZ chr20 21146789 21146792 TTTT - het . 6 +intronic KIZ chr20 21147009 21147009 A G het . 22 +intronic KIZ chr20 21158239 21158239 C G het . 3 +exonic KIZ chr20 21186161 21186161 - G het . 11 +ncRNA_intronic KIZ-AS1 chr20 21196089 21196089 A G het . 6 +ncRNA_intronic KIZ-AS1 chr20 21196122 21196124 AAA - het . 9 +intronic KIZ chr20 21220819 21220819 G A het . 2 +downstream KIZ(dist=56) chr20 21227314 21227314 C T het . 4 +intergenic KIZ(dist=14903),XRN2(dist=41761) chr20 21242161 21242161 A T het . 3 +intergenic KIZ(dist=41727),XRN2(dist=14937) chr20 21268985 21268985 C T het . 2 +intergenic KIZ(dist=44516),XRN2(dist=12148) chr20 21271774 21271774 G T het . 2 +intronic XRN2 chr20 21291531 21291531 C T het . 2 +intronic XRN2 chr20 21296559 21296559 C A het . 2 +intronic XRN2 chr20 21307107 21307107 A G het . 21 +intronic XRN2 chr20 21312325 21312325 G A het . 19 +intronic XRN2 chr20 21313109 21313109 - A het . 5 +intronic XRN2 chr20 21316154 21316154 G A het . 3 +intronic XRN2 chr20 21319828 21319828 A G het . 10 +intronic XRN2 chr20 21321294 21321294 C T het . 7 +intronic XRN2 chr20 21328716 21328716 T - het . 4 +intronic XRN2 chr20 21329780 21329780 T C het . 2 +intronic XRN2 chr20 21330114 21330114 T G het . 17 +intronic XRN2 chr20 21330315 21330315 T G het . 3 +intronic XRN2 chr20 21335113 21335113 T C het . 3 +intronic XRN2 chr20 21336825 21336825 G A het . 7 +intronic XRN2 chr20 21355841 21355841 A C het . 3 +intronic XRN2 chr20 21355846 21355846 A G het . 3 +intronic XRN2 chr20 21362704 21362704 A - het . 12 +intronic XRN2 chr20 21362758 21362758 T G het . 9 +intergenic PAX1(dist=86290),LINC01432(dist=249314) chr20 21785414 21785414 T C het . 3 +intergenic PAX1(dist=89201),LINC01432(dist=246403) chr20 21788325 21788325 - C het . 2 +intergenic PAX1(dist=178131),LINC01432(dist=157473) chr20 21877255 21877255 A G het . 1 +intergenic PAX1(dist=182408),LINC01432(dist=153196) chr20 21881532 21881532 G A het . 2 +intergenic PAX1(dist=232559),LINC01432(dist=103045) chr20 21931683 21931683 A G het . 2 +intergenic PAX1(dist=235401),LINC01432(dist=100203) chr20 21934525 21934525 A T het . 1 +intergenic PAX1(dist=321728),LINC01432(dist=13875) chr20 22020852 22020853 TT - het . 2 +intergenic LINC01432(dist=31123),LINC01427(dist=174451) chr20 22086415 22086415 T C het . 1 +intergenic LINC01432(dist=31147),LINC01427(dist=174427) chr20 22086439 22086439 G A het . 2 +intergenic LINC01432(dist=33791),LINC01427(dist=171783) chr20 22089083 22089083 T A het . 3 +intergenic LINC01432(dist=90223),LINC01427(dist=115351) chr20 22145515 22145515 A - het . 2 +intergenic LINC01432(dist=98795),LINC01427(dist=106779) chr20 22154087 22154087 T C het . 3 +intergenic LINC01432(dist=98816),LINC01427(dist=106758) chr20 22154108 22154108 T A het . 1 +intergenic LINC01432(dist=100545),LINC01427(dist=105029) chr20 22155837 22155837 G A het . 2 +intergenic LINC01432(dist=108784),LINC01427(dist=96790) chr20 22164076 22164076 T C het . 3 +intergenic LINC01432(dist=118181),LINC01427(dist=87393) chr20 22173473 22173473 G A het . 2 +intergenic LINC01432(dist=127311),LINC01427(dist=78263) chr20 22182603 22182603 T C het . 2 +intergenic LINC01432(dist=136533),LINC01427(dist=69041) chr20 22191825 22191825 G T het . 2 +intergenic LINC01432(dist=140731),LINC01427(dist=64843) chr20 22196023 22196023 G C het . 2 +intergenic LINC01432(dist=194796),LINC01427(dist=10778) chr20 22250088 22250088 G A het . 2 +intergenic LINC01427(dist=23354),LOC284788(dist=94178) chr20 22286793 22286793 A G het . 2 +intergenic LINC01427(dist=24949),LOC284788(dist=92583) chr20 22288388 22288388 A T het . 2 +intergenic LINC01427(dist=55601),LOC284788(dist=61931) chr20 22319040 22319040 G T het . 3 +intergenic LINC01427(dist=55604),LOC284788(dist=61928) chr20 22319043 22319043 T G het . 3 +intergenic LINC01427(dist=55616),LOC284788(dist=61916) chr20 22319055 22319055 G A het . 2 +intergenic LINC01427(dist=57583),LOC284788(dist=59949) chr20 22321022 22321022 G A het . 2 +intergenic LINC01427(dist=60345),LOC284788(dist=57187) chr20 22323784 22323784 T C het . 2 +intergenic LOC284788(dist=40715),LINC00261(dist=99196) chr20 22441996 22441996 G A het . 2 +intergenic LOC284788(dist=97770),LINC00261(dist=42141) chr20 22499051 22499051 T C het . 3 +intergenic LOC284788(dist=107942),LINC00261(dist=31969) chr20 22509223 22509223 G T het . 3 +intergenic LOC284788(dist=110488),LINC00261(dist=29423) chr20 22511769 22511769 C G het . 2 +intergenic LOC284788(dist=125105),LINC00261(dist=14806) chr20 22526386 22526386 G A het . 2 +intergenic LOC284788(dist=127554),LINC00261(dist=12357) chr20 22528835 22528835 G A het . 2 +ncRNA_intronic LINC00261 chr20 22551980 22551980 C T het . 2 +exonic FOXA2 chr20 22562674 22562674 T C het . 13 +intergenic LNCNEF(dist=2680),LINC01747(dist=57096) chr20 22590835 22590835 A G het . 2 +intergenic LNCNEF(dist=8670),LINC01747(dist=51106) chr20 22596825 22596825 T C het . 2 +intergenic LNCNEF(dist=14208),LINC01747(dist=45568) chr20 22602363 22602363 C T het . 2 +intergenic LNCNEF(dist=16617),LINC01747(dist=43159) chr20 22604772 22604772 G A het . 2 +intergenic LNCNEF(dist=31543),LINC01747(dist=28233) chr20 22619698 22619698 A T het . 2 +intergenic LINC01747(dist=16939),SSTR4(dist=333136) chr20 22682921 22682921 C T het . 2 +intergenic LINC01747(dist=47490),SSTR4(dist=302585) chr20 22713472 22713472 A G het . 15 +intergenic LINC01747(dist=47644),SSTR4(dist=302431) chr20 22713626 22713626 G A het . 15 +intergenic LINC01747(dist=48168),SSTR4(dist=301907) chr20 22714150 22714150 T A het . 13 +intergenic LINC01747(dist=80062),SSTR4(dist=270013) chr20 22746044 22746044 G A het . 4 +intergenic LINC01747(dist=92404),SSTR4(dist=257671) chr20 22758386 22758386 C T het . 2 +intergenic LINC01747(dist=110364),SSTR4(dist=239711) chr20 22776346 22776346 C T het . 2 +intergenic LINC01747(dist=200969),SSTR4(dist=149106) chr20 22866951 22866951 C T het . 3 +intergenic LINC01747(dist=201008),SSTR4(dist=149063) chr20 22866990 22866994 TGTTG - het . 2 +intergenic LINC01747(dist=262443),SSTR4(dist=87632) chr20 22928425 22928425 C T het . 2 +intergenic LINC01747(dist=292700),SSTR4(dist=57375) chr20 22958682 22958682 G T het . 2 +exonic THBD chr20 23028724 23028724 G A het . 18 +intergenic THBD(dist=7064),CD93(dist=22628) chr20 23037365 23037365 G A het . 2 +intergenic THBD(dist=13846),CD93(dist=15846) chr20 23044147 23044147 C A het . 2 +exonic CD93 chr20 23065342 23065342 A G het . 4 +intergenic CD93(dist=2224),LINC00656(dist=36504) chr20 23069201 23069201 A T het . 2 +intergenic CD93(dist=4054),LINC00656(dist=34674) chr20 23071031 23071031 G A het . 2 +ncRNA_intronic LINC00656 chr20 23113092 23113092 T C het . 2 +intergenic LINC00656(dist=27919),NXT1(dist=190181) chr20 23141192 23141192 T A het . 2 +intergenic LINC00656(dist=66331),NXT1(dist=151769) chr20 23179604 23179604 A G het . 2 +intergenic LINC00656(dist=128258),NXT1(dist=89842) chr20 23241531 23241531 G T het . 2 +intergenic LINC00656(dist=156109),NXT1(dist=61991) chr20 23269382 23269382 - TTG het . 2 +intergenic LINC00656(dist=210714),NXT1(dist=7386) chr20 23323987 23323987 A G het . 2 +intronic GZF1 chr20 23347553 23347553 C T het . 15 +intronic GZF1 chr20 23349608 23349608 A - het . 4 +intronic NAPB chr20 23360171 23360171 G C het . 18 +intronic NAPB chr20 23370687 23370687 C A het . 17 +intronic NAPB chr20 23374667 23374667 A G het . 2 +intronic NAPB chr20 23375907 23375907 C T het . 10 +intronic NAPB chr20 23391617 23391617 A G het . 2 +exonic CSTL1 chr20 23424613 23424613 T C het . 19 +downstream CSTL1(dist=244) chr20 23425811 23425812 CA TT het . 4 +exonic CST8 chr20 23472391 23472391 A G het . 23 +exonic CST8 chr20 23472414 23472414 C T het . 34 +intronic CST8 chr20 23473522 23473522 - T het . 15 +intronic CST8 chr20 23476389 23476389 A G het . 10 +intronic CST8 chr20 23476413 23476414 TT - het . 5 +intergenic CST8(dist=20372),CST13P(dist=2756) chr20 23497027 23497027 - C het . 2 +ncRNA_intronic CST13P chr20 23507054 23507054 A G het . 2 +ncRNA_intronic CST13P chr20 23517743 23517743 G T het . 1 +intergenic CST13P(dist=6722),CST9L(dist=15993) chr20 23529377 23529377 G A het . 4 +intergenic CST13P(dist=6733),CST9L(dist=15982) chr20 23529388 23529388 C T het . 6 +intergenic CST13P(dist=15246),CST9L(dist=7469) chr20 23537901 23537901 T G het . 2 +intergenic CST13P(dist=19952),CST9L(dist=2763) chr20 23542607 23542607 G A het . 3 +intronic CST9L chr20 23548774 23548774 T C het . 3 +UTR5 CST9(NM_001008693:c.-46G>A) chr20 23586547 23586547 C T het . 5 +intronic CST3 chr20 23616206 23616206 G A het . 3 +exonic CST3 chr20 23618395 23618395 T C het . 12 +exonic CST3 chr20 23618427 23618427 C T het . 9 +intergenic CST3(dist=10363),CST4(dist=37229) chr20 23629048 23629048 A C het . 2 +exonic CST1 chr20 23729722 23729722 G T het . 2 +exonic CST1 chr20 23731494 23731494 A G het . 4 +intergenic CST1(dist=9830),CST2(dist=63000) chr20 23741404 23741404 G A het . 3 +intergenic CST1(dist=25198),CST2(dist=47632) chr20 23756772 23756772 A T het . 3 +intergenic CST1(dist=26809),CST2(dist=46021) chr20 23758383 23758383 G A het . 2 +intergenic CST1(dist=41908),CST2(dist=30922) chr20 23773482 23773482 G A het . 2 +intergenic CST2(dist=3727),CST5(dist=45533) chr20 23811039 23811039 T C het . 2 +intronic CST5 chr20 23856993 23856993 T G het . 6 +exonic CST5 chr20 23860178 23860178 A G het . 21 +upstream CST5(dist=118) chr20 23860498 23860498 C G het . 2 +intergenic CST5(dist=65653),GGTLC1(dist=39657) chr20 23926033 23926033 T C het . 2 +intergenic CST5(dist=69319),GGTLC1(dist=35991) chr20 23929699 23929699 T - het . 2 +intergenic CST5(dist=77944),GGTLC1(dist=27366) chr20 23938324 23938324 C T het . 1 +UTR3 GGTLC1(NM_178312:c.*119G>A,NM_178311:c.*119G>A) chr20 23965734 23965734 C T het . 7 +exonic GGTLC1 chr20 23967240 23967240 G A het . 7 +upstream GGTLC1(dist=935) chr20 23970351 23970351 A C het . 11 +intergenic GGTLC1(dist=24537),LINC01721(dist=186450) chr20 23993953 23993953 A G het . 2 +intergenic GGTLC1(dist=71160),LINC01721(dist=139827) chr20 24040576 24040576 T - het . 2 +intergenic GGTLC1(dist=108712),LINC01721(dist=102275) chr20 24078128 24078128 A G het . 2 +intergenic GGTLC1(dist=113162),LINC01721(dist=97825) chr20 24082578 24082578 G A het . 2 +intergenic GGTLC1(dist=175201),LINC01721(dist=35786) chr20 24144617 24144617 T A het . 3 +intergenic GGTLC1(dist=194338),LINC01721(dist=16649) chr20 24163754 24163754 C T het . 3 +intergenic LINC01721(dist=55439),SYNDIG1(dist=189172) chr20 24260663 24260663 G A het . 3 +intergenic LINC01721(dist=226001),SYNDIG1(dist=18610) chr20 24431225 24431225 T C het . 2 +intronic SYNDIG1 chr20 24522821 24522821 A - het . 2 +intronic SYNDIG1 chr20 24524218 24524218 C G het . 6 +intronic SYNDIG1 chr20 24524245 24524245 A G het . 2 +intronic SYNDIG1 chr20 24540505 24540505 T C het . 2 +intronic SYNDIG1 chr20 24545027 24545027 T C het . 2 +intronic SYNDIG1 chr20 24546861 24546861 C T het . 2 +intronic SYNDIG1 chr20 24645939 24645939 G A het . 4 +intergenic SYNDIG1(dist=5474),CST7(dist=277138) chr20 24652727 24652728 TG CA het . 2 +intergenic SYNDIG1(dist=6544),CST7(dist=276069) chr20 24653797 24653797 A G het . 2 +intergenic SYNDIG1(dist=66570),CST7(dist=216043) chr20 24713823 24713823 G A het . 2 +intergenic SYNDIG1(dist=83401),CST7(dist=199212) chr20 24730654 24730654 G T het . 2 +intergenic SYNDIG1(dist=131202),CST7(dist=151411) chr20 24778455 24778455 A G het . 3 +intergenic SYNDIG1(dist=185553),CST7(dist=97059) chr20 24832806 24832807 AT - het . 2 +intergenic SYNDIG1(dist=262324),CST7(dist=20289) chr20 24909577 24909577 G A het . 2 +intergenic SYNDIG1(dist=264078),CST7(dist=18535) chr20 24911331 24911331 C - het . 5 +intergenic SYNDIG1(dist=264245),CST7(dist=18368) chr20 24911498 24911498 C A het . 3 +exonic CST7 chr20 24939590 24939590 G C het . 22 +UTR3 CST7(NM_003650:c.*5C>T) chr20 24940353 24940353 C T het . 23 +downstream CST7(dist=790) chr20 24941354 24941354 T C het . 2 +downstream CST7(dist=817) chr20 24941381 24941381 G C het . 2 +intronic APMAP chr20 24944933 24944933 T C het . 8 +intronic APMAP chr20 24945080 24945082 GGC - het . 23 +intronic APMAP chr20 24948737 24948737 C T het . 2 +intronic APMAP chr20 24954163 24954163 G - het . 7 +UTR5 APMAP(NM_020531:c.-59T>C) chr20 24973383 24973383 A G het . 4 +intergenic APMAP(dist=10299),ACSS1(dist=3142) chr20 24983724 24983724 A - het . 2 +UTR3 ACSS1(NM_001252677:c.*58G>A,NM_001252676:c.*960G>A,NM_001252675:c.*960G>A,NM_032501:c.*960G>A) chr20 24987438 24987438 C T het . 7 +exonic ACSS1 chr20 25000683 25000683 C T het . 18 +intronic ACSS1 chr20 25003026 25003026 C G het . 3 +intronic ACSS1 chr20 25004071 25004071 G T het . 7 +exonic ACSS1 chr20 25011423 25011423 T C het . 4 +intronic ACSS1 chr20 25011639 25011639 A G het . 10 +intronic ACSS1 chr20 25026562 25026562 A - het . 2 +intronic ACSS1 chr20 25027526 25027526 G A het . 16 +intronic ACSS1 chr20 25027630 25027630 G A het . 3 +exonic ACSS1 chr20 25038484 25038484 G T het . 12 +UTR3 VSX1(NM_001256272:c.*437_*438insA,NM_001256271:c.*451_*452insA) chr20 25052119 25052119 - T het . 18 +intronic VSX1 chr20 25057375 25057375 G A het . 7 +exonic VSX1 chr20 25059442 25059442 C T het . 25 +intergenic VSX1(dist=16643),LOC284798(dist=41776) chr20 25079658 25079658 A - het . 3 +intergenic VSX1(dist=16759),LOC284798(dist=41660) chr20 25079774 25079774 G T het . 18 +intergenic LOC284798(dist=12529),LOC101926889(dist=23353) chr20 25141955 25141955 T C het . 2 +intronic ENTPD6 chr20 25182648 25182648 A G het . 4 +intronic ENTPD6 chr20 25186965 25186965 A G het . 3 +exonic ENTPD6 chr20 25187213 25187213 G A het . 26 +intronic ENTPD6 chr20 25189115 25189115 A T het . 2 +intronic ENTPD6 chr20 25189120 25189120 - TAAT het . 1 +intronic ENTPD6 chr20 25190598 25190598 A G het . 7 +exonic ENTPD6 chr20 25193949 25193949 G A het . 12 +intronic ENTPD6 chr20 25195394 25195394 C T het . 8 +exonic ENTPD6 chr20 25195509 25195509 A G het . 16 +intronic ENTPD6 chr20 25197982 25197982 T C het . 4 +intronic PYGB chr20 25229564 25229564 C A het . 2 +intronic PYGB chr20 25252161 25252161 C T het . 20 +intronic PYGB chr20 25257215 25257215 G A het . 4 +intronic PYGB chr20 25257260 25257260 G C het . 4 +intronic PYGB chr20 25257817 25257817 G A het . 6 +exonic PYGB chr20 25259006 25259006 G T het . 14 +intronic PYGB chr20 25259807 25259807 G A het . 5 +exonic PYGB chr20 25260931 25260931 A G het . 6 +intronic PYGB chr20 25261784 25261784 G A het . 6 +intronic PYGB chr20 25262537 25262539 CTC - het . 4 +exonic PYGB chr20 25262769 25262769 G A het . 9 +intronic PYGB chr20 25262789 25262789 T C het . 6 +exonic PYGB chr20 25264814 25264814 T C het . 16 +intronic PYGB chr20 25268920 25268920 T C het . 12 +intronic PYGB chr20 25271033 25271033 C G het . 5 +intronic PYGB chr20 25271086 25271086 T C het . 12 +UTR3 ABHD12(NM_015600:c.*55_*50delAACTAA) chr20 25275554 25275559 TTAGTT - het . 22 +exonic ABHD12 chr20 25275655 25275655 C A het . 24 +exonic PYGB chr20 25276297 25276297 G A het . 20 +intronic ABHD12,PYGB chr20 25276343 25276343 G A het . 7 +UTR3 ABHD12(NM_001042472:c.*83G>A) chr20 25281398 25281398 C T het . 19 +exonic ABHD12 chr20 25282944 25282944 A G het . 30 +intronic ABHD12 chr20 25283041 25283041 G A het . 6 +intronic ABHD12 chr20 25284343 25284343 T C het . 3 +intronic ABHD12 chr20 25288505 25288505 C T het . 13 +exonic ABHD12 chr20 25288632 25288632 G A het . 22 +intronic ABHD12 chr20 25290512 25290512 C A het . 2 +intronic ABHD12 chr20 25290543 25290543 T C het . 2 +intronic ABHD12 chr20 25295787 25295787 T C het . 7 +intronic ABHD12 chr20 25320228 25320228 T A het . 20 +intronic ABHD12 chr20 25336119 25336119 - C het . 2 +intronic ABHD12 chr20 25336186 25336186 C G het . 2 +intronic ABHD12 chr20 25340786 25340786 A G het . 4 +intronic ABHD12 chr20 25343998 25343998 G C het . 2 +intronic ABHD12 chr20 25348712 25348712 T C het . 2 +intronic ABHD12 chr20 25349120 25349120 T C het . 12 +intronic ABHD12 chr20 25371113 25371118 GCCCCC - het . 5 +intronic ABHD12 chr20 25371125 25371125 C G het . 7 +exonic GINS1 chr20 25398790 25398790 G A het . 19 +intronic GINS1 chr20 25398876 25398876 G C het . 8 +intronic GINS1 chr20 25400240 25400240 T C het . 4 +intronic NINL chr20 25436283 25436283 C G het . 10 +intronic NINL chr20 25438928 25438928 G C het . 5 +intronic NINL chr20 25438952 25438952 G A het . 6 +intronic NINL chr20 25442097 25442097 G A het . 3 +intronic NINL chr20 25442388 25442388 T A het . 10 +intronic NINL chr20 25447896 25447896 A G het . 14 +intronic NINL chr20 25447931 25447931 A G het . 18 +exonic NINL chr20 25456888 25456888 A G het . 10 +exonic NINL chr20 25457050 25457055 CTCCCA - het . 5 +intronic NINL chr20 25469844 25469844 A G het . 12 +intronic NINL chr20 25470056 25470056 T C het . 6 +intronic NINL chr20 25479058 25479058 A G het . 5 +intronic NINL chr20 25506761 25506761 C T het . 2 +intronic NINL chr20 25518498 25518498 G A het . 2 +intronic NINL chr20 25519088 25519088 T C het . 2 +intronic NINL chr20 25520827 25520827 - AC het . 11 +intronic NINL chr20 25526624 25526624 - T het . 2 +intronic NINL chr20 25527069 25527069 C G het . 4 +intronic NINL chr20 25557251 25557251 T C het . 2 +intronic NINL chr20 25558424 25558424 T C het . 3 +intergenic NINL(dist=10212),NANP(dist=17194) chr20 25576379 25576379 T A het . 2 +intergenic NINL(dist=18159),NANP(dist=9247) chr20 25584326 25584326 T C het . 4 +intergenic NINL(dist=18368),NANP(dist=9038) chr20 25584535 25584535 T C het . 4 +ncRNA_intronic ZNF337-AS1 chr20 25616336 25616336 G A het . 3 +ncRNA_exonic ZNF337-AS1 chr20 25650787 25650787 G A het . 7 +intronic ZNF337 chr20 25663866 25663868 ATC - het . 3 +intergenic ZNF337(dist=21589),LOC105372582(dist=32715) chr20 25699129 25699129 C T het . 2 +intergenic ZNF337(dist=27566),LOC105372582(dist=26738) chr20 25705106 25705106 T A het . 3 +ncRNA_exonic FAM182B chr20 25754206 25754206 A T het . 27 +ncRNA_exonic FAM182B chr20 25754225 25754225 C T het . 22 +ncRNA_intronic FAM182B chr20 25755526 25755526 C T het . 2 +ncRNA_intronic FAM182B chr20 25755558 25755558 G T het . 2 +ncRNA_intronic LOC101926935 chr20 25832184 25832184 A G het . 2 +upstream LOC101926935(dist=119) chr20 25834776 25834776 C T het . 2 +intergenic LOC101926935(dist=1656),LINC01733(dist=100135) chr20 25836313 25836313 G A het . 2 +intergenic LOC101926935(dist=1706),LINC01733(dist=100085) chr20 25836363 25836363 G A het . 2 +intergenic LOC101926935(dist=4145),LINC01733(dist=97646) chr20 25838802 25838802 T G het . 8 +intergenic LOC101926935(dist=8687),LINC01733(dist=93104) chr20 25843344 25843344 T C het . 7 +intergenic LOC101926935(dist=13984),LINC01733(dist=87806) chr20 25848641 25848642 CC AG het . 11 +intergenic LOC101926935(dist=13988),LINC01733(dist=87803) chr20 25848645 25848645 G A het . 12 +intergenic LOC101926935(dist=35334),LINC01733(dist=66457) chr20 25869991 25869991 G A het . 3 +intergenic LOC101926935(dist=65478),LINC01733(dist=36313) chr20 25900135 25900135 C A het . 22 +intergenic LOC101926935(dist=65505),LINC01733(dist=36286) chr20 25900162 25900162 C A het . 22 +intergenic LOC101926935(dist=65508),LINC01733(dist=36281) chr20 25900165 25900167 CAA - het . 22 +intergenic LOC101926935(dist=65722),LINC01733(dist=36069) chr20 25900379 25900379 A C het . 23 +intergenic LOC101926935(dist=70215),LINC01733(dist=31576) chr20 25904872 25904872 T C het . 3 +intergenic LOC101926935(dist=70238),LINC01733(dist=31552) chr20 25904895 25904896 GG CC het . 3 +intergenic LOC101926935(dist=70245),LINC01733(dist=31546) chr20 25904902 25904902 A C het . 2 +intergenic LOC101926935(dist=75595),LINC01733(dist=26196) chr20 25910252 25910252 A G het . 1 +intergenic LOC101926935(dist=75597),LINC01733(dist=26194) chr20 25910254 25910254 C T het . 1 +intergenic LINC01733(dist=16037),LOC100134868(dist=24474) chr20 25965961 25965961 T C het . 5 +ncRNA_exonic FAM182A chr20 26063560 26063560 G A het . 24 +ncRNA_intronic NCOR1P1 chr20 26090231 26090231 C G het . 1 +ncRNA_intronic NCOR1P1 chr20 26090233 26090233 C - het . 1 +ncRNA_intronic NCOR1P1 chr20 26090241 26090241 T A het . 1 +ncRNA_intronic NCOR1P1 chr20 26090248 26090248 C A het . 1 +ncRNA_intronic NCOR1P1 chr20 26090252 26090253 AC - het . 1 +ncRNA_intronic NCOR1P1 chr20 26090261 26090261 C T het . 1 +ncRNA_intronic NCOR1P1 chr20 26090266 26090266 G A het . 1 +ncRNA_intronic NCOR1P1 chr20 26094501 26094501 T C het . 6 +ncRNA_exonic NCOR1P1 chr20 26094564 26094564 T G het . 13 +ncRNA_exonic NCOR1P1 chr20 26094567 26094567 T C het . 13 +intergenic NCOR1P1(dist=8017),MIR663AHG(dist=64961) chr20 26102694 26102694 T C het . 2 +intergenic NCOR1P1(dist=12220),MIR663AHG(dist=60758) chr20 26106897 26106897 A - het . 3 +intergenic NCOR1P1(dist=35957),MIR663AHG(dist=37021) chr20 26130634 26130634 G A het . 3 +intergenic NCOR1P1(dist=43209),MIR663AHG(dist=29769) chr20 26137886 26137886 - G het . 2 +intergenic NCOR1P1(dist=50648),MIR663AHG(dist=22330) chr20 26145325 26145325 A T het . 2 +intergenic NCOR1P1(dist=50658),MIR663AHG(dist=22320) chr20 26145335 26145335 G A het . 2 +intergenic MIR663AHG(dist=10777),NONE(dist=NONE) chr20 26200646 26200646 T C het . 2 +intergenic MIR663AHG(dist=11367),NONE(dist=NONE) chr20 26201236 26201236 G A het . 2 +intergenic MIR663AHG(dist=11378),NONE(dist=NONE) chr20 26201247 26201247 G - het . 2 +intergenic MIR663AHG(dist=12237),NONE(dist=NONE) chr20 26202106 26202106 G C het . 3 +intergenic MIR663AHG(dist=12281),NONE(dist=NONE) chr20 26202150 26202150 T C het . 2 +intergenic MIR663AHG(dist=12391),NONE(dist=NONE) chr20 26202260 26202260 G C het . 2 +intergenic MIR663AHG(dist=12398),NONE(dist=NONE) chr20 26202267 26202267 G A het . 2 +intergenic MIR663AHG(dist=12428),NONE(dist=NONE) chr20 26202297 26202297 C G het . 1 +intergenic MIR663AHG(dist=12430),NONE(dist=NONE) chr20 26202299 26202299 G A het . 1 +intergenic MIR663AHG(dist=12450),NONE(dist=NONE) chr20 26202319 26202319 C - het . 1 +intergenic MIR663AHG(dist=13483),NONE(dist=NONE) chr20 26203352 26203354 AAA - het . 3 +intergenic MIR663AHG(dist=13507),NONE(dist=NONE) chr20 26203376 26203376 A G het . 5 +intergenic MIR663AHG(dist=14290),NONE(dist=NONE) chr20 26204159 26204159 T C het . 3 +intergenic MIR663AHG(dist=14310),NONE(dist=NONE) chr20 26204179 26204179 A G het . 2 +intergenic MIR663AHG(dist=14854),NONE(dist=NONE) chr20 26204723 26204723 C T het . 2 +intergenic MIR663AHG(dist=14883),NONE(dist=NONE) chr20 26204752 26204752 A G het . 2 +intergenic MIR663AHG(dist=19636),NONE(dist=NONE) chr20 26209505 26209505 T C het . 2 +intergenic MIR663AHG(dist=19682),NONE(dist=NONE) chr20 26209551 26209551 A G het . 5 +intergenic MIR663AHG(dist=20503),NONE(dist=NONE) chr20 26210372 26210372 C A het . 3 +intergenic MIR663AHG(dist=20607),NONE(dist=NONE) chr20 26210476 26210476 T C het . 2 +intergenic MIR663AHG(dist=20791),NONE(dist=NONE) chr20 26210660 26210660 A G het . 3 +intergenic MIR663AHG(dist=20817),NONE(dist=NONE) chr20 26210686 26210686 - G het . 3 +intergenic MIR663AHG(dist=20818),NONE(dist=NONE) chr20 26210687 26210687 A T het . 3 +intergenic MIR663AHG(dist=20941),NONE(dist=NONE) chr20 26210810 26210812 ACA - het . 3 +intergenic MIR663AHG(dist=21152),NONE(dist=NONE) chr20 26211021 26211021 T C het . 2 +intergenic MIR663AHG(dist=21210),NONE(dist=NONE) chr20 26211079 26211079 A G het . 11 +intergenic MIR663AHG(dist=21355),NONE(dist=NONE) chr20 26211224 26211224 C T het . 12 +intergenic MIR663AHG(dist=21378),NONE(dist=NONE) chr20 26211247 26211247 A G het . 11 +intergenic MIR663AHG(dist=23754),NONE(dist=NONE) chr20 26213623 26213623 G A het . 3 +intergenic MIR663AHG(dist=23932),NONE(dist=NONE) chr20 26213801 26213801 G C het . 3 +intergenic MIR663AHG(dist=23960),NONE(dist=NONE) chr20 26213829 26213829 A T het . 3 +intergenic MIR663AHG(dist=30544),NONE(dist=NONE) chr20 26220413 26220413 C G het . 3 +intergenic MIR663AHG(dist=30599),NONE(dist=NONE) chr20 26220468 26220472 TCTAA - het . 2 +intergenic MIR663AHG(dist=59916),NONE(dist=NONE) chr20 26249785 26249785 G C het . 2 +intergenic MIR663AHG(dist=61427),NONE(dist=NONE) chr20 26251296 26251297 AG GC het . 3 +intergenic MIR663AHG(dist=61462),NONE(dist=NONE) chr20 26251331 26251331 A G het . 2 +intergenic MIR663AHG(dist=63266),NONE(dist=NONE) chr20 26253135 26253135 G A het . 1 +intergenic MIR663AHG(dist=118914),NONE(dist=NONE) chr20 26308783 26308783 A G het . 2 +intergenic MIR663AHG(dist=123148),NONE(dist=NONE) chr20 26313017 26313017 A T het . 4 +intergenic MIR663AHG(dist=123184),NONE(dist=NONE) chr20 26313053 26313053 T A het . 4 +intergenic MIR663AHG(dist=123196),NONE(dist=NONE) chr20 26313065 26313065 C G het . 4 +intergenic MIR663AHG(dist=128648),NONE(dist=NONE) chr20 26318517 26318517 C A het . 4 +intergenic NONE(dist=NONE),LINC01597(dist=93618) chr20 29419966 29419966 T G het . 2 +intergenic NONE(dist=NONE),LINC01597(dist=93612) chr20 29419972 29419972 G A het . 2 +intergenic NONE(dist=NONE),LINC01597(dist=90527) chr20 29423057 29423057 G A het . 4 +intergenic NONE(dist=NONE),LINC01597(dist=78246) chr20 29435338 29435338 T C het . 3 +intergenic NONE(dist=NONE),LINC01597(dist=73983) chr20 29439601 29439601 G T het . 4 +intergenic NONE(dist=NONE),LINC01597(dist=65283) chr20 29448301 29448301 G A het . 4 +intergenic NONE(dist=NONE),LINC01597(dist=65252) chr20 29448332 29448332 C T het . 4 +intergenic NONE(dist=NONE),LINC01597(dist=64000) chr20 29449584 29449584 G A het . 9 +intergenic NONE(dist=NONE),LINC01597(dist=63973) chr20 29449611 29449611 G T het . 8 +intergenic NONE(dist=NONE),LINC01597(dist=59587) chr20 29453997 29453997 G C het . 2 +intergenic NONE(dist=NONE),LINC01597(dist=56904) chr20 29456680 29456680 G C het . 6 +intergenic NONE(dist=NONE),LINC01597(dist=56872) chr20 29456712 29456712 G A het . 7 +intergenic NONE(dist=NONE),LINC01597(dist=41350) chr20 29472234 29472234 T C het . 3 +intergenic NONE(dist=NONE),LINC01597(dist=41313) chr20 29472271 29472271 A G het . 4 +intergenic NONE(dist=NONE),LINC01597(dist=9254) chr20 29504330 29504330 G C het . 2 +ncRNA_intronic LINC01597 chr20 29517176 29517176 C G het . 16 +ncRNA_intronic LINC01597 chr20 29517367 29517367 G A het . 5 +ncRNA_intronic LINC01597 chr20 29520510 29520510 G T het . 7 +intergenic LINC01597(dist=25637),FAM242B(dist=11638) chr20 29546850 29546850 G T het . 20 +intergenic LINC01597(dist=25642),FAM242B(dist=11633) chr20 29546855 29546855 C T het . 22 +intergenic LINC01597(dist=25651),FAM242B(dist=11624) chr20 29546864 29546864 C T het . 22 +intergenic FAM242B(dist=1813),FRG1BP(dist=39664) chr20 29572176 29572176 G A het . 10 +intergenic FAM242B(dist=1855),FRG1BP(dist=39622) chr20 29572218 29572218 A G het . 7 +intergenic FAM242B(dist=8099),FRG1BP(dist=33378) chr20 29578462 29578462 T C het . 2 +intergenic FAM242B(dist=13184),FRG1BP(dist=28293) chr20 29583547 29583547 C G het . 2 +intergenic FAM242B(dist=13189),FRG1BP(dist=28288) chr20 29583552 29583552 C T het . 2 +intergenic FAM242B(dist=16532),FRG1BP(dist=24945) chr20 29586895 29586895 A G het . 4 +intergenic FAM242B(dist=22787),FRG1BP(dist=18690) chr20 29593150 29593150 C A het . 3 +intergenic FAM242B(dist=29892),FRG1BP(dist=11585) chr20 29600255 29600255 A G het . 2 +intergenic FAM242B(dist=31809),FRG1BP(dist=9668) chr20 29602172 29602172 T A het . 2 +intergenic FAM242B(dist=31814),FRG1BP(dist=9663) chr20 29602177 29602177 A G het . 2 +intergenic FAM242B(dist=31847),FRG1BP(dist=9630) chr20 29602210 29602210 C T het . 3 +ncRNA_intronic FRG1BP,FRG1DP chr20 29612172 29612172 A G het . 1 +ncRNA_intronic FRG1BP,FRG1DP chr20 29612194 29612195 AG GA het . 1 +ncRNA_intronic FRG1BP,FRG1DP chr20 29612201 29612201 C T het . 1 +ncRNA_intronic FRG1BP,FRG1DP chr20 29623049 29623049 A C het . 15 +ncRNA_intronic FRG1BP,FRG1DP chr20 29626066 29626066 G C het . 12 +ncRNA_intronic FRG1BP,FRG1DP chr20 29626082 29626082 A G het . 14 +ncRNA_intronic FRG1BP,FRG1DP chr20 29626084 29626084 A - het . 14 +ncRNA_intronic FRG1BP,FRG1DP chr20 29626112 29626112 A G het . 15 +ncRNA_intronic FRG1BP,FRG1DP chr20 29626124 29626124 G C het . 12 +ncRNA_intronic FRG1BP,FRG1DP chr20 29626127 29626127 C G het . 10 +ncRNA_exonic FRG1BP,FRG1DP chr20 29628237 29628237 C A het . 5 +ncRNA_exonic FRG1BP,FRG1DP chr20 29628271 29628271 C T het . 5 +ncRNA_intronic FRG1BP chr20 29628390 29628390 T C het . 12 +ncRNA_intronic FRG1BP chr20 29628861 29628861 T C het . 6 +ncRNA_intronic FRG1BP chr20 29630695 29630695 C A het . 33 +ncRNA_exonic FRG1BP chr20 29632638 29632638 C A het . 24 +ncRNA_exonic FRG1BP chr20 29632674 29632674 - A het . 26 +ncRNA_exonic FRG1BP chr20 29632709 29632709 C T het . 14 +ncRNA_exonic FRG1BP chr20 29632714 29632715 CT AG het . 14 +ncRNA_intronic FRG1BP chr20 29633894 29633894 C A het . 14 +ncRNA_intronic FRG1BP chr20 29634136 29634136 A G het . 6 +ncRNA_intronic FRG1BP chr20 29636158 29636158 C T het . 2 +ncRNA_intronic FRG1BP chr20 29646081 29646081 T C het . 2 +ncRNA_intronic FRG1BP chr20 29647027 29647027 G T het . 2 +ncRNA_intronic FRG1BP chr20 29647030 29647030 T G het . 2 +ncRNA_intronic FRG1BP chr20 29647072 29647072 T C het . 3 +ncRNA_intronic FRG1BP chr20 29647081 29647081 T A het . 3 +ncRNA_intronic FRG1BP chr20 29647087 29647087 T G het . 1 +ncRNA_intronic FRG1BP chr20 29648710 29648710 C T het . 3 +ncRNA_intronic FRG1BP chr20 29648755 29648755 A G het . 3 +ncRNA_intronic FRG1BP chr20 29650468 29650468 G A het . 2 +ncRNA_intronic FRG1BP chr20 29651755 29651755 T C het . 1 +ncRNA_intronic FRG1BP chr20 29651952 29651952 C A het . 5 +ncRNA_intronic FRG1BP chr20 29652000 29652000 T C het . 9 +ncRNA_intronic FRG1BP chr20 29652036 29652036 C T het . 10 +ncRNA_intronic FRG1BP chr20 29652083 29652083 C T het . 23 +ncRNA_intronic FRG1BP chr20 29652099 29652099 G T het . 25 +ncRNA_intronic FRG1BP chr20 29652102 29652102 C A het . 27 +ncRNA_intronic FRG1BP chr20 29652105 29652105 T C het . 27 +ncRNA_intronic FRG1BP chr20 29652107 29652107 T G het . 23 +ncRNA_exonic FRG1BP chr20 29652138 29652138 C T het . 20 +ncRNA_exonic FRG1BP chr20 29652165 29652165 C T het . 34 +ncRNA_exonic FRG1BP chr20 29652166 29652166 G A het . 35 +ncRNA_exonic FRG1BP chr20 29652172 29652172 T C het . 39 +ncRNA_exonic FRG1BP chr20 29652182 29652182 C T het . 41 +ncRNA_exonic FRG1BP chr20 29652183 29652183 G A het . 41 +ncRNA_exonic FRG1BP chr20 29652190 29652190 T G het . 45 +ncRNA_exonic FRG1BP chr20 29652191 29652191 C T het . 44 +ncRNA_exonic FRG1BP chr20 29652236 29652236 G C het . 21 +ncRNA_exonic FRG1BP chr20 29652254 29652254 G A het . 11 +ncRNA_exonic FRG1BP chr20 29652566 29652566 C T het . 4 +ncRNA_exonic FRG1BP chr20 29652569 29652569 A G het . 4 +ncRNA_exonic FRG1BP chr20 29652605 29652605 A T het . 4 +ncRNA_exonic FRG1BP chr20 29652840 29652840 C T het . 3 +ncRNA_exonic FRG1BP chr20 29652850 29652850 G A het . 2 +ncRNA_exonic FRG1BP chr20 29653139 29653139 T C het . 1 +ncRNA_exonic FRG1BP chr20 29653142 29653142 C G het . 1 +ncRNA_exonic FRG1BP chr20 29653210 29653210 G A het . 3 +ncRNA_exonic FRG1BP chr20 29653235 29653235 C G het . 3 +ncRNA_exonic FRG1BP chr20 29653253 29653253 G T het . 4 +ncRNA_exonic FRG1BP chr20 29653258 29653258 C T het . 3 +ncRNA_exonic FRG1BP chr20 29653264 29653264 C G het . 4 +ncRNA_exonic FRG1BP chr20 29653319 29653319 C G het . 4 +ncRNA_exonic FRG1BP chr20 29653330 29653330 T C het . 3 +ncRNA_exonic FRG1BP chr20 29653336 29653336 G T het . 2 +intergenic FRG1BP(dist=188713),DEFB115(dist=2846) chr20 29842621 29842621 T C het . 2 +intronic DEFB115 chr20 29847211 29847211 T C het . 12 +intergenic DEFB115(dist=1809),DEFB116(dist=41771) chr20 29849244 29849244 C A het . 1 +intergenic DEFB115(dist=1813),DEFB116(dist=41767) chr20 29849248 29849248 A C het . 1 +intergenic DEFB115(dist=1825),DEFB116(dist=41755) chr20 29849260 29849260 T A het . 2 +intergenic DEFB115(dist=11012),DEFB116(dist=32568) chr20 29858447 29858447 A G het . 2 +intergenic DEFB115(dist=14940),DEFB116(dist=28640) chr20 29862375 29862375 T G het . 6 +intergenic DEFB115(dist=25646),DEFB116(dist=17934) chr20 29873081 29873081 T A het . 24 +intergenic DEFB115(dist=26142),DEFB116(dist=17438) chr20 29873577 29873577 A G het . 25 +intergenic DEFB115(dist=26406),DEFB116(dist=17174) chr20 29873841 29873841 C T het . 15 +intergenic DEFB115(dist=26522),DEFB116(dist=17058) chr20 29873957 29873957 A G het . 5 +intergenic DEFB115(dist=41657),DEFB116(dist=1923) chr20 29889092 29889092 T C het . 2 +intronic DEFB116 chr20 29896112 29896112 T A het . 2 +intergenic DEFB116(dist=35112),DEFB118(dist=24921) chr20 29931500 29931500 A - het . 6 +intergenic DEFB118(dist=1279),DEFB119(dist=1981) chr20 29962984 29962985 AA CC het . 3 +intronic DEFB119 chr20 29966114 29966114 C T het . 7 +intronic DEFB119 chr20 29966275 29966275 G A het . 3 +intronic DEFB119 chr20 29966362 29966362 A C het . 4 +intronic DEFB119 chr20 29978216 29978216 T C het . 14 +intergenic DEFB119(dist=3818),DEFB121(dist=10378) chr20 29982270 29982270 A C het . 2 +intergenic DEFB119(dist=9433),DEFB121(dist=4763) chr20 29987885 29987885 T C het . 2 +intergenic DEFB119(dist=11800),DEFB121(dist=2396) chr20 29990252 29990252 A G het . 3 +intronic DEFB123 chr20 30037783 30037783 C T het . 4 +intronic HM13 chr20 30142485 30142485 A - het . 5 +intergenic HM13-AS1(dist=10056),ID1(dist=21964) chr20 30171122 30171122 A G het . 2 +intronic COX4I2 chr20 30226764 30226764 G C het . 9 +intronic COX4I2 chr20 30227639 30227639 A G het . 2 +intronic COX4I2 chr20 30227937 30227937 T G het . 5 +intronic COX4I2 chr20 30232504 30232504 G A het . 11 +intronic BCL2L1 chr20 30253947 30253947 T G het . 4 +intronic BCL2L1 chr20 30287494 30287494 A G het . 2 +intergenic BCL2L1(dist=2244),TPX2(dist=12858) chr20 30314046 30314046 A G het . 3 +intergenic BCL2L1(dist=12243),TPX2(dist=2859) chr20 30324045 30324045 C T het . 3 +intronic TPX2 chr20 30347832 30347832 A G het . 21 +exonic TPX2 chr20 30354417 30354417 G A het . 13 +intronic TPX2 chr20 30363193 30363193 T A het . 3 +intronic TPX2 chr20 30363645 30363645 T C het . 10 +exonic TPX2 chr20 30381758 30381758 G C het . 20 +intronic TPX2 chr20 30382108 30382108 T G het . 8 +exonic TPX2 chr20 30382315 30382315 A G het . 18 +intronic TPX2 chr20 30385192 30385192 C T het . 16 +UTR5 MYLK2(NM_033118:c.-171T>C) chr20 30407213 30407213 T C het . 5 +intronic MYLK2 chr20 30409584 30409584 G C het . 3 +intronic MYLK2 chr20 30414578 30414578 G A het . 26 +intronic MYLK2 chr20 30421459 30421459 C T het . 11 +exonic FOXS1 chr20 30433139 30433139 G A het . 32 +UTR5 FOXS1(NM_004118:c.-7G>A) chr20 30433352 30433352 C T het . 5 +intronic DUSP15 chr20 30437522 30437522 A G het . 10 +exonic DUSP15 chr20 30449325 30449325 C G het . 10 +intronic DUSP15 chr20 30451844 30451844 C T het . 4 +intronic DUSP15 chr20 30452709 30452709 A G het . 3 +exonic DUSP15 chr20 30452782 30452782 C T het . 13 +intronic TTLL9 chr20 30467811 30467811 G A het . 3 +exonic TTLL9 chr20 30527065 30527065 T C het . 4 +intronic XKR7 chr20 30584016 30584016 T C het . 3 +exonic CCM2L chr20 30616835 30616835 G A het . 15 +intronic HCK chr20 30642340 30642340 G T het . 2 +intronic HCK chr20 30647222 30647222 - TCTT het . 4 +exonic HCK chr20 30686915 30686915 C A het . 18 +intronic TM9SF4 chr20 30708891 30708891 A T het . 2 +intronic TM9SF4 chr20 30724565 30724565 G A het . 6 +intronic TM9SF4 chr20 30746248 30746248 T C het . 13 +UTR3 TM9SF4(NM_014742:c.*23T>C,NM_001363731:c.*23T>C) chr20 30753270 30753270 T C het . 8 +ncRNA_exonic TSPY26P chr20 30777336 30777336 G T het . 19 +ncRNA_exonic TSPY26P chr20 30777800 30777800 T C het . 12 +ncRNA_exonic TSPY26P chr20 30777860 30777860 A G het . 10 +intronic PLAGL2 chr20 30789062 30789062 C A het . 2 +exonic POFUT1 chr20 30795819 30795819 T C het . 21 +intronic POFUT1 chr20 30809216 30809216 G A het . 1 +intronic POFUT1 chr20 30810100 30810100 C T het . 2 +intergenic POFUT1(dist=9022),KIF3B(dist=29965) chr20 30835489 30835489 T C het . 2 +intronic KIF3B chr20 30887464 30887464 G C het . 2 +exonic KIF3B chr20 30915461 30915461 T C het . 10 +UTR3 KIF3B(NM_004798:c.*61A>G) chr20 30919183 30919183 A G het . 8 +intronic ASXL1 chr20 30961200 30961200 T C het . 4 +intronic ASXL1 chr20 31019024 31019024 C T het . 25 +exonic ASXL1 chr20 31022959 31022959 T C het . 33 +UTR3 NOL4L(NM_080616:c.*270T>C,NM_001256798:c.*270T>C,NM_001351680:c.*470T>C) chr20 31035129 31035129 A G het . 10 +ncRNA_intronic LOC101929698 chr20 31099311 31099311 T C het . 9 +ncRNA_exonic NOL4L-DT chr20 31189411 31189411 A G het . 9 +ncRNA_exonic NOL4L-DT chr20 31196471 31196471 A G het . 3 +intergenic C20orf203(dist=2059),COMMD7(dist=26691) chr20 31263802 31263802 G T het . 2 +intergenic C20orf203(dist=22895),COMMD7(dist=5855) chr20 31284638 31284638 T C het . 2 +intergenic C20orf203(dist=25009),COMMD7(dist=3741) chr20 31286752 31286752 T G het . 2 +UTR3 COMMD7(NM_053041:c.*23G>A,NM_001099339:c.*23G>A) chr20 31291161 31291161 C T het . 12 +intronic COMMD7 chr20 31291625 31291625 A G het . 10 +intronic COMMD7 chr20 31291920 31291923 GGCA - het . 20 +intronic COMMD7 chr20 31292184 31292184 - ATG het . 18 +intronic COMMD7 chr20 31292299 31292299 A - het . 8 +intronic COMMD7 chr20 31294655 31294655 A G het . 5 +intronic COMMD7 chr20 31302819 31302819 T C het . 3 +intronic COMMD7 chr20 31305867 31305867 G A het . 2 +intronic COMMD7 chr20 31305891 31305891 A - het . 3 +intronic COMMD7 chr20 31319116 31319116 T A het . 3 +intronic COMMD7 chr20 31319149 31319149 A G het . 2 +intronic COMMD7 chr20 31323039 31323039 A - het . 3 +intronic DNMT3B chr20 31384735 31384735 C T het . 22 +intronic DNMT3B chr20 31393071 31393071 C T het . 7 +intronic DNMT3B chr20 31393073 31393073 C T het . 7 +intronic MAPRE1 chr20 31421509 31421509 C T het . 12 +intronic MAPRE1 chr20 31429865 31429865 C T het . 2 +UTR3 MAPRE1(NM_012325:c.*147C>T) chr20 31436681 31436681 C T het . 3 +intronic EFCAB8 chr20 31450818 31450818 T - het . 2 +intronic EFCAB8 chr20 31466387 31466387 A G het . 2 +exonic EFCAB8 chr20 31466534 31466534 C T het . 15 +intronic EFCAB8 chr20 31473483 31473483 G C het . 6 +intronic EFCAB8 chr20 31476701 31476701 T C het . 2 +intronic EFCAB8 chr20 31480938 31480938 C T het . 7 +intronic EFCAB8 chr20 31480961 31480961 C T het . 6 +intronic EFCAB8 chr20 31484417 31484417 T A het . 6 +intronic EFCAB8 chr20 31486206 31486206 A G het . 4 +exonic EFCAB8 chr20 31494382 31494382 G A het . 20 +intronic EFCAB8 chr20 31502359 31502359 G C het . 2 +exonic EFCAB8 chr20 31505189 31505189 C T het . 13 +exonic EFCAB8 chr20 31505292 31505292 C T het . 11 +intronic EFCAB8 chr20 31507762 31507762 C G het . 4 +exonic EFCAB8 chr20 31518298 31518298 A G het . 35 +intronic EFCAB8 chr20 31518552 31518552 C G het . 2 +intronic EFCAB8 chr20 31527290 31527290 T C het . 3 +intronic EFCAB8 chr20 31535265 31535265 C A het . 2 +intergenic EFCAB8(dist=2576),SUN5(dist=19590) chr20 31551991 31551991 G T het . 4 +intronic SUN5 chr20 31573017 31573017 G C het . 9 +intronic SUN5 chr20 31573528 31573528 A C het . 4 +intronic SUN5 chr20 31573769 31573769 T G het . 7 +intronic SUN5 chr20 31585351 31585351 C G het . 3 +intronic SUN5 chr20 31589323 31589325 TTC - het . 3 +exonic SUN5 chr20 31590686 31590686 C A het . 11 +intronic BPIFB2 chr20 31598994 31598994 G A het . 4 +intronic BPIFB2 chr20 31603406 31603407 AA - het . 2 +exonic BPIFB2 chr20 31609581 31609581 C T het . 23 +exonic BPIFB6 chr20 31619500 31619500 C T het . 20 +intronic BPIFB6 chr20 31619578 31619578 A G het . 8 +intronic BPIFB6 chr20 31620470 31620470 T C het . 2 +intronic BPIFB6 chr20 31621583 31621583 G A het . 5 +exonic BPIFB6 chr20 31622083 31622083 G A het . 13 +exonic BPIFB6 chr20 31624300 31624300 C T het . 10 +intronic BPIFB6 chr20 31630724 31630724 G A het . 13 +intronic BPIFB6 chr20 31630971 31630971 C T het . 6 +intergenic BPIFB6(dist=3531),BPIFB3(dist=7753) chr20 31635384 31635384 G A het . 3 +intronic BPIFB3 chr20 31650103 31650103 T C het . 2 +intronic BPIFB3 chr20 31650112 31650112 G C het . 2 +exonic BPIFB3 chr20 31652596 31652596 C T het . 8 +intronic BPIFB3 chr20 31656831 31656831 G T het . 2 +intronic BPIFB3 chr20 31656837 31656837 G A het . 2 +intronic BPIFB3 chr20 31659764 31659764 A T het . 3 +intronic BPIFB3 chr20 31660489 31660489 T C het . 15 +exonic BPIFB3 chr20 31660543 31660543 C T het . 24 +exonic BPIFB4 chr20 31671599 31671599 A G het . 15 +exonic BPIFB4 chr20 31671663 31671663 T C het . 5 +intronic BPIFB4 chr20 31671693 31671693 C T het . 3 +intronic BPIFB4 chr20 31671766 31671766 G A het . 2 +exonic BPIFB4 chr20 31678534 31678534 T C het . 15 +intronic BPIFB4 chr20 31680234 31680234 C T het . 6 +intronic BPIFB4 chr20 31685405 31685405 C T het . 5 +exonic BPIFB4 chr20 31688241 31688241 T C het . 14 +exonic BPIFB4 chr20 31688260 31688260 C T het . 12 +intronic BPIFB4 chr20 31688330 31688330 C T het . 7 +intergenic BPIFB4(dist=11940),BPIFA2(dist=38157) chr20 31711497 31711497 G A het . 2 +exonic BPIFA3 chr20 31812923 31812923 G A het . 8 +intronic BPIFA3 chr20 31814318 31814318 C A het . 11 +intergenic BPIFA1(dist=21169),BPIFB1(dist=18657) chr20 31852284 31852284 C T het . 2 +intergenic BPIFA1(dist=31439),BPIFB1(dist=8387) chr20 31862554 31862554 T G het . 3 +intronic BPIFB1 chr20 31876475 31876475 A C het . 2 +intronic BPIFB1 chr20 31876485 31876485 T C het . 2 +intronic BPIFB1 chr20 31876489 31876489 A C het . 2 +exonic BPIFB1 chr20 31876616 31876616 T C het . 9 +exonic BPIFB1 chr20 31876681 31876681 A G het . 4 +exonic BPIFB1 chr20 31877713 31877713 A T het . 12 +intronic BPIFB1 chr20 31878592 31878592 G C het . 2 +exonic BPIFB1 chr20 31897554 31897554 G C het . 21 +intergenic BPIFB1(dist=28806),CDK5RAP1(dist=20155) chr20 31926490 31926490 G A het . 2 +intronic CDK5RAP1 chr20 31954890 31954890 C G het . 4 +intronic CDK5RAP1 chr20 31962276 31962276 G - het . 2 +intronic CDK5RAP1 chr20 31975090 31975090 G A het . 2 +exonic CDK5RAP1 chr20 31981849 31981849 T C het . 25 +intronic CDK5RAP1 chr20 31981971 31981971 T - het . 7 +intronic SNTA1 chr20 32000351 32000351 A G het . 26 +intronic CBFA2T2 chr20 32082876 32082876 A C het . 2 +intronic CBFA2T2 chr20 32107833 32107833 C T het . 2 +intronic CBFA2T2 chr20 32112937 32112937 C T het . 8 +exonic CBFA2T2 chr20 32199069 32199069 T C het . 21 +UTR3 PXMP4(NM_007238:c.*13G>T,NM_183397:c.*237G>T) chr20 32295499 32295499 C A het . 4 +exonic ZNF341 chr20 32379263 32379263 T C het . 8 +intronic CHMP4B chr20 32439837 32439837 C A het . 24 +intergenic CHMP4B(dist=16159),RALY-AS1(dist=121962) chr20 32458332 32458332 G C het . 2 +intergenic CHMP4B(dist=42227),RALY-AS1(dist=95894) chr20 32484400 32484400 G C het . 2 +intergenic CHMP4B(dist=49729),RALY-AS1(dist=88392) chr20 32491902 32491902 T A het . 1 +intergenic CHMP4B(dist=57283),RALY-AS1(dist=80838) chr20 32499456 32499456 G A het . 2 +intergenic CHMP4B(dist=74144),RALY-AS1(dist=63977) chr20 32516317 32516317 G A het . 2 +intergenic CHMP4B(dist=99703),RALY-AS1(dist=38418) chr20 32541876 32541876 T A het . 4 +intergenic CHMP4B(dist=99748),RALY-AS1(dist=38372) chr20 32541921 32541922 TC - het . 3 +intergenic CHMP4B(dist=102154),RALY-AS1(dist=35967) chr20 32544327 32544327 T C het . 2 +intergenic CHMP4B(dist=110874),RALY-AS1(dist=27247) chr20 32553047 32553047 T G het . 10 +intergenic CHMP4B(dist=110922),RALY-AS1(dist=27199) chr20 32553095 32553095 C T het . 16 +intronic RALY chr20 32607846 32607846 A G het . 1 +intronic RALY chr20 32607854 32607854 A G het . 2 +intronic RALY chr20 32613493 32613494 AA TT het . 2 +intronic RALY chr20 32613873 32613873 A G het . 2 +intronic RALY chr20 32662918 32662918 G A het . 2 +exonic RALY chr20 32664864 32664864 - CAG het . 6 +exonic RALY chr20 32664926 32664926 G A het . 11 +downstream EIF2S2(dist=468) chr20 32675636 32675636 A C het . 3 +intergenic EIF2S2(dist=10100),ASIP(dist=137909) chr20 32710262 32710262 A - het . 11 +intergenic EIF2S2(dist=10548),ASIP(dist=137461) chr20 32710710 32710710 G A het . 5 +intergenic EIF2S2(dist=10812),ASIP(dist=137197) chr20 32710974 32710974 G A het . 5 +intergenic EIF2S2(dist=16273),ASIP(dist=131736) chr20 32716435 32716435 A G het . 2 +intergenic EIF2S2(dist=66794),ASIP(dist=81215) chr20 32766956 32766956 T C het . 2 +intergenic EIF2S2(dist=80165),ASIP(dist=67844) chr20 32780327 32780327 - T het . 2 +intergenic EIF2S2(dist=101697),ASIP(dist=46312) chr20 32801859 32801859 A G het . 21 +intergenic EIF2S2(dist=102529),ASIP(dist=45480) chr20 32802691 32802691 G T het . 15 +intergenic EIF2S2(dist=103157),ASIP(dist=44852) chr20 32803319 32803319 - A het . 17 +intergenic EIF2S2(dist=123726),ASIP(dist=24280) chr20 32823888 32823891 GAAG - het . 1 +intergenic EIF2S2(dist=141081),ASIP(dist=6924) chr20 32841243 32841247 TTTTA - het . 2 +UTR5 AHCY(NM_001362750:c.-124C>A,NM_000687:c.-124C>A) chr20 32891200 32891200 G T het . 11 +intronic AHCY chr20 32894949 32894949 G T het . 2 +intergenic AHCY(dist=34139),ITCH(dist=17294) chr20 32933747 32933747 - AA het . 4 +intergenic AHCY(dist=37555),ITCH(dist=13878) chr20 32937163 32937163 A - het . 2 +intronic ITCH chr20 32971135 32971135 C T het . 3 +intronic ITCH chr20 32990050 32990050 G T het . 15 +intronic ITCH chr20 32990446 32990446 T A het . 4 +intronic ITCH chr20 32996830 32996830 T A het . 6 +intronic ITCH chr20 33012060 33012060 C T het . 17 +intronic ITCH chr20 33012529 33012529 T A het . 3 +intronic ITCH chr20 33012531 33012531 A G het . 3 +intronic ITCH chr20 33037336 33037336 C T het . 23 +intronic ITCH chr20 33037408 33037408 A T het . 9 +intronic ITCH chr20 33045092 33045092 G A het . 16 +intronic ITCH chr20 33053985 33053985 - T het . 3 +intronic ITCH chr20 33057954 33057954 G C het . 21 +intronic ITCH chr20 33057975 33057975 T - het . 14 +intronic ITCH chr20 33063830 33063830 A C het . 16 +intronic ITCH chr20 33068563 33068563 A T het . 34 +intronic ITCH chr20 33074074 33074074 T C het . 2 +intronic ITCH chr20 33087166 33087166 A T het . 3 +intronic ITCH chr20 33092420 33092420 C - het . 6 +intronic DYNLRB1 chr20 33104592 33104592 G C het . 15 +intronic PIGU chr20 33155312 33155312 C T het . 3 +intronic PIGU chr20 33208547 33208547 A G het . 2 +intronic PIGU chr20 33232992 33232992 A - het . 6 +intronic PIGU chr20 33264731 33264731 T G het . 11 +intergenic PIGU(dist=15747),TP53INP2(dist=11276) chr20 33280836 33280836 C T het . 2 +exonic NCOA6 chr20 33330880 33330880 G A het . 9 +exonic NCOA6 chr20 33337751 33337751 T C het . 13 +intronic NCOA6 chr20 33340851 33340851 - T het . 2 +intronic NCOA6 chr20 33356219 33356219 A - het . 7 +intronic NCOA6 chr20 33364584 33364584 C T het . 19 +upstream HMGB3P1(dist=349) chr20 33422614 33422614 G A het . 2 +intronic GGT7 chr20 33438940 33438940 G A het . 5 +exonic GGT7 chr20 33451148 33451148 G A het . 10 +intronic GGT7 chr20 33452431 33452431 T C het . 2 +exonic ACSS2 chr20 33470694 33470694 C T het . 18 +intronic ACSS2 chr20 33508588 33508588 G T het . 2 +exonic ACSS2 chr20 33508937 33508937 C A het . 18 +intronic ACSS2 chr20 33509275 33509275 G A het . 15 +intronic ACSS2 chr20 33509523 33509523 C T het . 7 +intronic GSS chr20 33517014 33517014 A G het . 2 +intronic GSS chr20 33526983 33526983 T C het . 4 +intronic GSS chr20 33529766 33529766 T G het . 6 +intronic GSS chr20 33533736 33533736 A C het . 18 +intronic MYH7B chr20 33565528 33565528 G C het . 3 +exonic MYH7B chr20 33565755 33565755 G A het . 16 +intronic MYH7B chr20 33572941 33572941 A G het . 11 +intronic MYH7B chr20 33575347 33575347 - AT het . 7 +exonic MYH7B chr20 33578899 33578899 T C het . 4 +exonic MYH7B chr20 33581955 33581955 G A het . 4 +intronic MYH7B chr20 33583114 33583114 T C het . 3 +exonic MYH7B chr20 33583331 33583331 A G het . 28 +intronic MYH7B chr20 33584778 33584778 - G het . 3 +intronic MYH7B chr20 33584822 33584822 - G het . 4 +intronic MYH7B chr20 33584864 33584864 - T het . 10 +exonic MYH7B chr20 33585437 33585437 C T het . 6 +exonic MYH7B chr20 33587596 33587596 G A het . 8 +intronic TRPC4AP chr20 33591197 33591197 - G het . 14 +intronic TRPC4AP chr20 33592474 33592474 A G het . 2 +intronic TRPC4AP chr20 33593457 33593457 T C het . 3 +intronic TRPC4AP chr20 33593674 33593674 T C het . 3 +intronic TRPC4AP chr20 33594226 33594226 G T het . 7 +intronic TRPC4AP chr20 33604042 33604042 T C het . 5 +intronic TRPC4AP chr20 33626570 33626570 - T het . 2 +intronic TRPC4AP chr20 33632203 33632203 - A het . 6 +intronic TRPC4AP chr20 33632600 33632600 C T het . 10 +intronic TRPC4AP chr20 33632687 33632687 C A het . 3 +intronic TRPC4AP chr20 33632775 33632775 T C het . 2 +intronic TRPC4AP chr20 33637606 33637606 T G het . 4 +intronic TRPC4AP chr20 33638515 33638515 - A het . 3 +intronic TRPC4AP chr20 33642732 33642732 G T het . 6 +intronic TRPC4AP chr20 33642737 33642737 G A het . 5 +intronic TRPC4AP chr20 33647503 33647503 G T het . 3 +intronic TRPC4AP chr20 33647579 33647579 A G het . 5 +exonic TRPC4AP chr20 33657126 33657126 G A het . 25 +intronic TRPC4AP chr20 33665831 33665831 A C het . 3 +intronic TRPC4AP chr20 33670753 33670753 T C het . 2 +intronic TRPC4AP chr20 33671766 33671766 A - het . 3 +intronic EDEM2,MMP24-AS1-EDEM2 chr20 33711624 33711624 T A het . 4 +intronic EDEM2,MMP24-AS1-EDEM2 chr20 33713963 33713963 T C het . 5 +intronic EDEM2,MMP24-AS1-EDEM2 chr20 33713975 33713975 A C het . 4 +intronic MMP24-AS1-EDEM2,PROCR chr20 33762489 33762489 C T het . 16 +intronic MMP24-AS1-EDEM2,PROCR chr20 33763951 33763951 C T het . 20 +exonic PROCR chr20 33764554 33764554 A G het . 29 +UTR3 PROCR(NM_006404:c.*16C>G) chr20 33764632 33764632 C G het . 20 +intronic MMP24-AS1-EDEM2 chr20 33796775 33796775 C A het . 2 +intronic MMP24,MMP24-AS1-EDEM2 chr20 33857544 33857544 C T het . 6 +intronic UQCC1 chr20 33894463 33894463 A G het . 9 +intronic UQCC1 chr20 33946241 33946241 - A het . 3 +exonic UQCC1 chr20 33971914 33971914 C T het . 14 +intronic UQCC1 chr20 33972452 33972452 A - het . 6 +intronic UQCC1 chr20 33974051 33974051 T C het . 4 +intronic UQCC1 chr20 33974163 33974163 T A het . 34 +intronic UQCC1 chr20 33997291 33997291 T A het . 9 +upstream UQCC1(dist=520) chr20 34000465 34000465 C T het . 2 +intergenic UQCC1(dist=3795),GDF5OS(dist=17087) chr20 34003740 34003740 T C het . 2 +intergenic UQCC1(dist=7570),GDF5OS(dist=13312) chr20 34007515 34007515 T G het . 2 +exonic GDF5,GDF5OS chr20 34022387 34022387 A C het . 4 +UTR5 GDF5(NM_001319138:c.-48T>C,NM_000557:c.-48T>C) chr20 34025756 34025756 A G het . 16 +intronic CEP250 chr20 34045350 34045350 T - het . 2 +intronic CEP250 chr20 34045392 34045392 G C het . 2 +intronic CEP250 chr20 34061578 34061578 T C het . 3 +intronic CEP250 chr20 34062642 34062642 C T het . 25 +intronic CEP250 chr20 34062710 34062710 C T het . 11 +intronic CEP250 chr20 34078452 34078452 C A het . 11 +intronic CEP250 chr20 34079200 34079200 A G het . 5 +exonic CEP250 chr20 34090979 34090979 G A het . 20 +intronic CEP250 chr20 34096725 34096725 A G het . 10 +intergenic CEP250(dist=6161),C20orf173(dist=8834) chr20 34105965 34105965 T G het . 2 +intergenic CEP250(dist=6171),C20orf173(dist=8824) chr20 34105975 34105975 G A het . 2 +exonic C20orf173 chr20 34116282 34116282 T C het . 16 +intronic ERGIC3 chr20 34130713 34130713 T G het . 16 +intronic ERGIC3 chr20 34131396 34131396 C T het . 27 +intronic ERGIC3 chr20 34142670 34142670 T G het . 4 +ncRNA_exonic FER1L4 chr20 34147998 34147998 A G het . 14 +ncRNA_intronic FER1L4 chr20 34148693 34148693 A G het . 2 +ncRNA_exonic FER1L4 chr20 34152782 34152782 C T het . 22 +ncRNA_intronic FER1L4 chr20 34162180 34162180 T C het . 2 +ncRNA_intronic FER1L4 chr20 34163406 34163406 T - het . 2 +ncRNA_exonic FER1L4 chr20 34164422 34164422 T C het . 17 +ncRNA_intronic FER1L4 chr20 34167382 34167382 G A het . 10 +ncRNA_exonic FER1L4 chr20 34170035 34170035 C G het . 9 +ncRNA_exonic FER1L4 chr20 34170316 34170316 C A het . 2 +ncRNA_intronic FER1L4 chr20 34171324 34171324 G A het . 1 +exonic SPAG4 chr20 34203973 34203973 C T het . 15 +intronic SPAG4 chr20 34208516 34208516 C T het . 4 +exonic;splicing CPNE1;CPNE1(NM_001198863:exon15:c.1237-1A>G) chr20 34214723 34214723 T C het . 11 +intronic NFS1 chr20 34280322 34280322 A - het . 8 +intronic RBM39 chr20 34293445 34293445 C T het . 4 +intronic RBM39 chr20 34304616 34304616 - A het . 10 +intronic RBM39 chr20 34320203 34320203 A - het . 3 +intergenic RBM39(dist=10709),PHF20(dist=18956) chr20 34340967 34340967 C A het . 29 +intergenic RBM39(dist=11400),PHF20(dist=18264) chr20 34341658 34341659 AA - het . 9 +intronic PHF20 chr20 34362010 34362010 T - het . 2 +intronic PHF20 chr20 34368028 34368028 C G het . 2 +exonic PHF20 chr20 34430646 34430646 C A het . 11 +intronic PHF20 chr20 34459815 34459815 A - het . 5 +intronic PHF20 chr20 34460479 34460479 C T het . 2 +exonic EPB41L1 chr20 34765955 34765955 T G het . 35 +intronic EPB41L1 chr20 34775551 34775551 A G het . 11 +intronic EPB41L1 chr20 34785697 34785697 G A het . 5 +exonic EPB41L1 chr20 34797801 34797801 C T het . 11 +intronic AAR2 chr20 34832602 34832603 CT - het . 15 +intergenic AAR2(dist=1927),DLGAP4(dist=47455) chr20 34846790 34846790 C A het . 5 +intronic DLGAP4 chr20 35013733 35013733 G A het . 2 +intronic DLGAP4 chr20 35023613 35023613 A G het . 2 +intronic DLGAP4 chr20 35027511 35027511 T G het . 2 +exonic DLGAP4 chr20 35060921 35060921 A C het . 7 +exonic DLGAP4 chr20 35060924 35060924 A C het . 7 +exonic DLGAP4 chr20 35060930 35060930 G C het . 7 +intronic DLGAP4 chr20 35071077 35071077 A C het . 2 +intronic SLA2 chr20 35249856 35249856 T G het . 8 +intronic NDRG3 chr20 35311039 35311039 C A het . 6 +intronic NDRG3 chr20 35312979 35312979 G A het . 7 +intronic DSN1 chr20 35400700 35400700 - T het . 2 +downstream SOGA1(dist=867) chr20 35404978 35404978 G T het . 2 +exonic SOGA1 chr20 35436943 35436943 C A het . 21 +intronic SOGA1 chr20 35445891 35445891 A - het . 13 +intronic SOGA1 chr20 35453063 35453063 - T het . 2 +exonic SOGA1 chr20 35491551 35491551 A G het . 9 +exonic TLDC2 chr20 35507542 35507542 G A het . 9 +intronic TLDC2 chr20 35508959 35508959 T C het . 3 +intronic TLDC2 chr20 35512648 35512648 A G het . 2 +intronic SAMHD1 chr20 35522648 35522648 - T het . 2 +intronic SAMHD1 chr20 35529753 35529753 G A het . 2 +intronic SAMHD1 chr20 35532445 35532445 - GATGACTTCTT het . 11 +intronic SAMHD1 chr20 35553622 35553622 C T het . 3 +intronic SAMHD1 chr20 35555718 35555720 TTT - het . 8 +intronic SAMHD1 chr20 35559352 35559352 A C het . 17 +intronic RBL1 chr20 35632692 35632692 C T het . 2 +intronic RBL1 chr20 35660978 35660978 - A het . 5 +intronic RBL1 chr20 35661007 35661007 T C het . 6 +intronic RBL1 chr20 35677604 35677610 CAAAAAA - het . 6 +intronic RBL1 chr20 35695536 35695536 A - het . 10 +intronic RBL1 chr20 35710453 35710453 T C het . 7 +intronic RBL1 chr20 35715685 35715685 T C het . 1 +intronic RBL1 chr20 35717815 35717815 - G het . 3 +intronic MROH8 chr20 35738841 35738841 G C het . 10 +exonic MROH8 chr20 35740794 35740794 T C het . 11 +intronic MROH8 chr20 35747879 35747879 A - het . 4 +intronic MROH8 chr20 35748024 35748024 G A het . 4 +intronic MROH8 chr20 35748039 35748039 - AAAGA het . 2 +intronic MROH8 chr20 35748894 35748894 C G het . 14 +intronic MROH8 chr20 35749079 35749079 T A het . 6 +exonic MROH8 chr20 35749348 35749349 GG AA het . 20 +intronic MROH8 chr20 35756558 35756558 C T het . 2 +exonic MROH8 chr20 35766337 35766337 A G het . 15 +exonic MROH8 chr20 35769592 35769592 T C het . 15 +exonic MROH8 chr20 35769647 35769647 G T het . 26 +intronic MROH8 chr20 35772963 35772963 C A het . 2 +exonic MROH8 chr20 35783494 35783494 T C het . 19 +intronic MROH8 chr20 35786188 35786188 A C het . 11 +intronic MROH8 chr20 35787154 35787154 T C het . 4 +intronic MROH8 chr20 35787473 35787473 A G het . 9 +intronic MROH8 chr20 35792394 35792396 TCC - het . 4 +exonic MROH8 chr20 35796541 35796541 T C het . 25 +intronic RPN2 chr20 35814351 35814351 A G het . 2 +intronic RPN2 chr20 35822659 35822661 TTG - het . 2 +intronic RPN2 chr20 35826683 35826683 T G het . 7 +intronic RPN2 chr20 35827028 35827028 - TT het . 6 +intronic RPN2 chr20 35827682 35827682 G T het . 14 +intronic RPN2 chr20 35828696 35828696 A G het . 4 +intronic RPN2 chr20 35828758 35828759 TT - het . 5 +intronic RPN2 chr20 35829944 35829944 T C het . 2 +intronic RPN2 chr20 35831932 35831932 G A het . 2 +intronic RPN2 chr20 35835498 35835498 A G het . 4 +intronic RPN2 chr20 35835657 35835657 C T het . 27 +intronic RPN2 chr20 35835889 35835889 A G het . 21 +intronic RPN2 chr20 35838029 35838029 G A het . 2 +intronic RPN2 chr20 35838372 35838372 T A het . 19 +intronic RPN2 chr20 35838591 35838591 T C het . 24 +intronic RPN2 chr20 35838756 35838756 G A het . 6 +intronic RPN2 chr20 35841996 35841996 A - het . 8 +intronic RPN2 chr20 35845342 35845342 - T het . 2 +intronic RPN2 chr20 35852395 35852395 A C het . 23 +intronic RPN2 chr20 35852450 35852450 G C het . 14 +intronic RPN2 chr20 35861473 35861473 A G het . 3 +intronic RPN2 chr20 35862708 35862708 T C het . 2 +exonic RPN2 chr20 35865054 35865054 C T het . 37 +intronic RPN2 chr20 35868310 35868310 G A het . 3 +intronic RPN2 chr20 35869538 35869538 A G het . 11 +intronic RPN2 chr20 35869619 35869619 C T het . 27 +intergenic RPN2(dist=8036),GHRH(dist=1429) chr20 35878061 35878061 A C het . 2 +intronic SRC chr20 36008392 36008392 C A het . 2 +exonic SRC chr20 36030939 36030939 G C het . 12 +intronic SRC chr20 36031097 36031097 A G het . 4 +intergenic SRC(dist=19142),BLCAP(dist=92842) chr20 36052977 36052977 - G het . 1 +intergenic SRC(dist=19146),BLCAP(dist=92838) chr20 36052981 36052981 A G het . 1 +intergenic SRC(dist=19152),BLCAP(dist=92832) chr20 36052987 36052987 A G het . 1 +intergenic SRC(dist=20819),BLCAP(dist=91165) chr20 36054654 36054654 T C het . 2 +intergenic SRC(dist=20825),BLCAP(dist=91159) chr20 36054660 36054660 G C het . 2 +intergenic SRC(dist=20835),BLCAP(dist=91149) chr20 36054670 36054670 T C het . 2 +intergenic SRC(dist=20838),BLCAP(dist=91146) chr20 36054673 36054673 G C het . 2 +intergenic SRC(dist=98431),BLCAP(dist=13553) chr20 36132266 36132266 G C het . 2 +intergenic BLCAP(dist=2730),LINC00489(dist=88637) chr20 36159063 36159063 T - het . 3 +intergenic BLCAP(dist=11225),LINC00489(dist=80142) chr20 36167558 36167558 A - het . 3 +intergenic BLCAP(dist=16216),LINC00489(dist=75151) chr20 36172549 36172549 C T het . 1 +intergenic BLCAP(dist=50051),LINC00489(dist=41316) chr20 36206384 36206384 C T het . 2 +intergenic BLCAP(dist=50053),LINC00489(dist=41314) chr20 36206386 36206386 C T het . 2 +intergenic BLCAP(dist=54722),LINC00489(dist=36645) chr20 36211055 36211055 - AAACAAA het . 3 +intergenic BLCAP(dist=74951),LINC00489(dist=16416) chr20 36231284 36231284 C T het . 4 +intergenic BLCAP(dist=75036),LINC00489(dist=16331) chr20 36231369 36231369 A G het . 5 +intergenic BLCAP(dist=76670),LINC00489(dist=14696) chr20 36233003 36233004 GG CA het . 2 +intergenic BLCAP(dist=78447),LINC00489(dist=12920) chr20 36234780 36234780 T C het . 2 +intergenic BLCAP(dist=86527),LINC00489(dist=4840) chr20 36242860 36242860 C T het . 2 +intronic CTNNBL1 chr20 36375071 36375071 T C het . 15 +intronic CTNNBL1 chr20 36432194 36432194 C G het . 2 +intronic CTNNBL1 chr20 36488509 36488512 CTCA - het . 4 +intronic CTNNBL1 chr20 36500313 36500313 C A het . 11 +intergenic CTNNBL1(dist=1374),VSTM2L(dist=29594) chr20 36501905 36501905 T G het . 2 +intergenic VSTM2L(dist=7259),TTI1(dist=30403) chr20 36581006 36581006 C A het . 1 +exonic TTI1 chr20 36640384 36640384 T G het . 27 +exonic TTI1 chr20 36641361 36641361 C T het . 33 +intronic RPRD1B chr20 36678017 36678017 G A het . 5 +intronic RPRD1B chr20 36685915 36685915 T C het . 13 +intronic RPRD1B chr20 36701012 36701012 G C het . 1 +intronic RPRD1B chr20 36714835 36714835 G A het . 2 +exonic TGM2 chr20 36759614 36759614 C A het . 23 +intronic TGM2 chr20 36761057 36761057 C T het . 5 +intronic TGM2 chr20 36793529 36793529 G A het . 24 +intronic KIAA1755 chr20 36848020 36848020 C A het . 6 +exonic KIAA1755 chr20 36859711 36859711 G A het . 2 +intronic KIAA1755 chr20 36868191 36868191 C T het . 9 +exonic KIAA1755 chr20 36869516 36869516 C A het . 15 +exonic KIAA1755 chr20 36870122 36870122 T G het . 6 +ncRNA_intronic LOC149684 chr20 36907600 36907600 A C het . 2 +intronic BPI chr20 36937140 36937140 T C het . 2 +exonic BPI chr20 36946848 36946848 G A het . 33 +intronic BPI chr20 36953097 36953097 C T het . 6 +intronic BPI chr20 36959566 36959566 A G het . 7 +UTR3 BPI(NM_001725:c.*31A>G) chr20 36965617 36965617 A G het . 9 +intronic LBP chr20 37001702 37001702 C T het . 15 +intergenic LBP(dist=23360),SNHG17(dist=20222) chr20 37029013 37029013 T C het . 2 +downstream SNHG17(dist=276) chr20 37048959 37048959 G A het . 2 +ncRNA_intronic SNHG17 chr20 37059070 37059070 T C het . 2 +ncRNA_exonic SNORA71D chr20 37062583 37062583 T C het . 20 +intronic RALGAPB chr20 37131721 37131721 A C het . 2 +intronic RALGAPB chr20 37154320 37154320 T - het . 7 +intronic RALGAPB chr20 37177178 37177178 G T het . 6 +intronic RALGAPB chr20 37177627 37177627 G C het . 2 +intronic RALGAPB chr20 37196905 37196905 - A het . 3 +intronic RALGAPB chr20 37197401 37197401 G A het . 2 +upstream ARHGAP40(dist=91) chr20 37230486 37230486 C A het . 2 +intronic ARHGAP40 chr20 37250470 37250470 G A het . 3 +exonic ARHGAP40 chr20 37257590 37257590 C G het . 7 +intronic ARHGAP40 chr20 37261397 37261397 T C het . 3 +intronic ARHGAP40 chr20 37261766 37261766 A - het . 2 +intronic ARHGAP40 chr20 37266205 37266205 C A het . 5 +intronic ARHGAP40 chr20 37271866 37271866 T C het . 2 +intronic ARHGAP40 chr20 37277153 37277153 G T het . 4 +intronic ARHGAP40 chr20 37277271 37277271 C T het . 12 +UTR3 ARHGAP40(NM_001164431:c.*455T>C) chr20 37278946 37278946 T C het . 9 +UTR3 ARHGAP40(NM_001164431:c.*764C>T) chr20 37279255 37279255 C T het . 10 +downstream ARHGAP40(dist=82) chr20 37279377 37279381 GACGA - het . 18 +intergenic ARHGAP40(dist=23285),SLC32A1(dist=50525) chr20 37302580 37302580 C G het . 2 +intergenic ARHGAP40(dist=30787),SLC32A1(dist=43023) chr20 37310082 37310082 A G het . 2 +intergenic ARHGAP40(dist=36698),SLC32A1(dist=37112) chr20 37315993 37315993 T C het . 2 +intergenic ARHGAP40(dist=43540),SLC32A1(dist=30270) chr20 37322835 37322835 A G het . 2 +intergenic ARHGAP40(dist=46789),SLC32A1(dist=27021) chr20 37326084 37326084 A G het . 2 +intergenic ARHGAP40(dist=49281),SLC32A1(dist=24529) chr20 37328576 37328576 C A het . 2 +intergenic ARHGAP40(dist=49310),SLC32A1(dist=24500) chr20 37328605 37328605 G A het . 2 +intergenic ACTR5(dist=2280),PPP1R16B(dist=30967) chr20 37403369 37403369 G A het . 2 +intronic PPP1R16B chr20 37447919 37447919 A G het . 2 +intronic PPP1R16B chr20 37475516 37475516 C T het . 2 +intergenic LINC01734(dist=276138),LINC01370(dist=503574) chr20 38129529 38129529 C T het . 2 +intergenic LINC01734(dist=392976),LINC01370(dist=386736) chr20 38246367 38246367 C A het . 2 +intergenic LINC01734(dist=440705),LINC01370(dist=339007) chr20 38294096 38294096 G A het . 2 +intergenic LINC01734(dist=442595),LINC01370(dist=337117) chr20 38295986 38295986 C T het . 4 +intergenic LINC01734(dist=466351),LINC01370(dist=313361) chr20 38319742 38319742 A G het . 3 +intergenic LINC01734(dist=470406),LINC01370(dist=309306) chr20 38323797 38323797 - TTTG het . 2 +intergenic LINC01734(dist=508848),LINC01370(dist=270864) chr20 38362239 38362239 A G het . 2 +intergenic LINC01734(dist=512643),LINC01370(dist=267069) chr20 38366034 38366034 G C het . 2 +intergenic LINC01734(dist=519483),LINC01370(dist=260229) chr20 38372874 38372874 - TGT het . 3 +intergenic LINC01734(dist=533552),LINC01370(dist=246160) chr20 38386943 38386943 T C het . 3 +intergenic LINC01734(dist=536128),LINC01370(dist=243584) chr20 38389519 38389519 G C het . 2 +intergenic LINC01734(dist=587794),LINC01370(dist=191918) chr20 38441185 38441185 T C het . 2 +intergenic LINC01734(dist=603184),LINC01370(dist=176528) chr20 38456575 38456575 T C het . 2 +intergenic LINC01734(dist=609339),LINC01370(dist=170373) chr20 38462730 38462730 T C het . 2 +intergenic LINC01734(dist=639950),LINC01370(dist=139762) chr20 38493341 38493341 C G het . 2 +intergenic LINC01734(dist=670964),LINC01370(dist=108748) chr20 38524355 38524355 A G het . 2 +intergenic LINC01734(dist=675684),LINC01370(dist=104028) chr20 38529075 38529075 G A het . 2 +intergenic LINC01734(dist=699054),LINC01370(dist=80658) chr20 38552445 38552445 C T het . 4 +intergenic LINC01734(dist=731194),LINC01370(dist=48518) chr20 38584585 38584585 C A het . 2 +intergenic LINC01734(dist=768152),LINC01370(dist=11560) chr20 38621543 38621543 - CA het . 1 +intergenic LINC01370(dist=9436),MAFB(dist=667881) chr20 38646607 38646607 T C het . 2 +intergenic LINC01370(dist=16961),MAFB(dist=660356) chr20 38654132 38654132 C G het . 2 +intergenic LINC01370(dist=49958),MAFB(dist=627359) chr20 38687129 38687129 T C het . 2 +intergenic LINC01370(dist=57577),MAFB(dist=619740) chr20 38694748 38694748 C T het . 2 +intergenic LINC01370(dist=64059),MAFB(dist=613258) chr20 38701230 38701230 T C het . 2 +intergenic LINC01370(dist=71463),MAFB(dist=605854) chr20 38708634 38708634 G A het . 2 +intergenic LINC01370(dist=80674),MAFB(dist=596643) chr20 38717845 38717845 G A het . 2 +intergenic LINC01370(dist=212384),MAFB(dist=464933) chr20 38849555 38849555 G A het . 2 +intergenic LINC01370(dist=252334),MAFB(dist=424983) chr20 38889505 38889505 T C het . 2 +intergenic LINC01370(dist=252362),MAFB(dist=424955) chr20 38889533 38889533 C T het . 2 +intergenic LINC01370(dist=261042),MAFB(dist=416275) chr20 38898213 38898213 T C het . 2 +intergenic LINC01370(dist=444778),MAFB(dist=232539) chr20 39081949 39081949 A G het . 1 +intergenic MAFB(dist=14876),SNORD154(dist=10456) chr20 39332756 39332756 G A het . 2 +intergenic SNORD154(dist=15978),LOC100128988(dist=250112) chr20 39359241 39359241 T C het . 3 +intergenic SNORD154(dist=25797),LOC100128988(dist=240293) chr20 39369060 39369060 G C het . 2 +intergenic SNORD154(dist=50581),LOC100128988(dist=215509) chr20 39393844 39393844 - TTTTG het . 2 +intergenic SNORD154(dist=100256),LOC100128988(dist=165834) chr20 39443519 39443519 G A het . 2 +intergenic SNORD154(dist=133689),LOC100128988(dist=132401) chr20 39476952 39476952 G A het . 2 +intergenic SNORD154(dist=148781),LOC100128988(dist=117309) chr20 39492044 39492044 C T het . 2 +intergenic SNORD154(dist=156062),LOC100128988(dist=110028) chr20 39499325 39499325 G T het . 3 +intergenic SNORD154(dist=166024),LOC100128988(dist=100066) chr20 39509287 39509287 A G het . 2 +intergenic SNORD154(dist=166842),LOC100128988(dist=99248) chr20 39510105 39510105 - A het . 3 +intergenic SNORD154(dist=194391),LOC100128988(dist=71699) chr20 39537654 39537654 G C het . 2 +intergenic SNORD154(dist=195145),LOC100128988(dist=70945) chr20 39538408 39538408 A G het . 5 +intergenic SNORD154(dist=198532),LOC100128988(dist=67558) chr20 39541795 39541795 G A het . 1 +intergenic SNORD154(dist=261696),LOC100128988(dist=4394) chr20 39604959 39604959 G A het . 2 +ncRNA_intronic LOC100128988 chr20 39633603 39633603 C T het . 3 +intronic TOP1 chr20 39670548 39670548 - GA het . 2 +intronic TOP1 chr20 39670549 39670549 - G het . 2 +intronic TOP1 chr20 39672618 39672618 T A het . 2 +intronic TOP1 chr20 39682977 39682977 C T het . 3 +intronic TOP1 chr20 39694707 39694707 G A het . 2 +intronic TOP1 chr20 39713352 39713352 A C het . 3 +intronic TOP1 chr20 39721373 39721373 A G het . 3 +ncRNA_exonic PLCG1-AS1 chr20 39726776 39726776 T C het . 14 +ncRNA_intronic PLCG1-AS1 chr20 39743921 39743921 T G het . 21 +ncRNA_intronic PLCG1-AS1 chr20 39744810 39744810 C A het . 3 +ncRNA_intronic PLCG1-AS1 chr20 39751959 39751959 C T het . 10 +intronic PLCG1 chr20 39788855 39788855 A G het . 6 +exonic PLCG1 chr20 39797465 39797465 T C het . 24 +intronic PLCG1 chr20 39797646 39797646 C T het . 6 +intronic ZHX3 chr20 39830122 39830122 A G het . 6 +exonic ZHX3 chr20 39832628 39832628 T C het . 10 +intronic ZHX3 chr20 39834621 39834621 G A het . 2 +intronic ZHX3 chr20 39849364 39849364 T C het . 2 +intronic ZHX3 chr20 39875525 39875528 CAAA - het . 2 +intronic ZHX3 chr20 39891808 39891808 C G het . 2 +intronic ZHX3 chr20 39898830 39898830 T C het . 2 +intronic ZHX3 chr20 39924630 39924630 G T het . 2 +intergenic ZHX3(dist=26464),LPIN3(dist=14290) chr20 39955203 39955203 A G het . 2 +intronic LPIN3 chr20 39977650 39977650 C T het . 5 +intergenic EMILIN3(dist=14962),CHD6(dist=20283) chr20 40010460 40010460 C - het . 2 +intergenic EMILIN3(dist=14964),CHD6(dist=20279) chr20 40010462 40010464 AAC - het . 2 +intergenic EMILIN3(dist=26461),CHD6(dist=8784) chr20 40021959 40021959 T C het . 2 +exonic CHD6 chr20 40043892 40043892 C A het . 22 +intronic CHD6 chr20 40049099 40049099 G A het . 5 +exonic CHD6 chr20 40050134 40050134 C A het . 19 +exonic CHD6 chr20 40053928 40053928 T C het . 42 +intronic CHD6 chr20 40076397 40076397 C T het . 5 +intronic CHD6 chr20 40076509 40076509 T C het . 6 +exonic CHD6 chr20 40081567 40081567 C A het . 20 +intronic CHD6 chr20 40120269 40120269 T C het . 7 +intronic CHD6 chr20 40126679 40126679 T A het . 5 +intronic CHD6 chr20 40179909 40179909 G A het . 20 +intronic CHD6 chr20 40179920 40179920 C T het . 18 +intronic CHD6 chr20 40199925 40199925 T A het . 2 +intronic CHD6 chr20 40210314 40210314 A - het . 2 +intronic CHD6 chr20 40210331 40210331 A C het . 2 +intergenic CHD6(dist=123344),PTPRT(dist=330915) chr20 40370477 40370477 A G het . 2 +intergenic CHD6(dist=141059),PTPRT(dist=313200) chr20 40388192 40388192 C T het . 2 +intergenic CHD6(dist=200240),PTPRT(dist=254019) chr20 40447373 40447373 C G het . 2 +intergenic CHD6(dist=220674),PTPRT(dist=233585) chr20 40467807 40467807 A G het . 2 +intergenic CHD6(dist=226900),PTPRT(dist=227359) chr20 40474033 40474033 A G het . 2 +intergenic CHD6(dist=299450),PTPRT(dist=154809) chr20 40546583 40546583 C G het . 2 +intergenic CHD6(dist=300889),PTPRT(dist=153370) chr20 40548022 40548022 C T het . 1 +intergenic CHD6(dist=313767),PTPRT(dist=140492) chr20 40560900 40560900 G A het . 2 +intergenic CHD6(dist=314814),PTPRT(dist=139445) chr20 40561947 40561947 G T het . 2 +intergenic CHD6(dist=379341),PTPRT(dist=74918) chr20 40626474 40626474 C T het . 13 +intronic PTPRT chr20 40714305 40714305 T C het . 7 +intronic PTPRT chr20 40714307 40714307 G A het . 7 +exonic PTPRT chr20 40714479 40714479 G A het . 10 +intronic PTPRT chr20 40714524 40714524 C G het . 3 +intronic PTPRT chr20 40714539 40714539 C T het . 2 +intronic PTPRT chr20 40723042 40723042 C T het . 2 +intronic PTPRT chr20 40733082 40733082 C T het . 4 +intronic PTPRT chr20 40743829 40743829 A G het . 8 +intronic PTPRT chr20 40753293 40753293 T C het . 2 +intronic PTPRT chr20 40756792 40756792 T C het . 2 +intronic PTPRT chr20 40821926 40821926 G A het . 2 +intronic PTPRT chr20 40828709 40828709 C A het . 2 +intronic PTPRT chr20 40829018 40829018 G A het . 2 +intronic PTPRT chr20 40854622 40854622 G T het . 2 +intronic PTPRT chr20 40881461 40881461 C A het . 1 +intronic PTPRT chr20 40910951 40910951 G A het . 4 +intronic PTPRT chr20 40940339 40940339 T C het . 2 +intronic PTPRT chr20 40979430 40979430 C T het . 3 +intronic PTPRT chr20 40980987 40980987 G A het . 9 +intronic PTPRT chr20 40992719 40992719 T C het . 3 +intronic PTPRT chr20 40996577 40996577 A C het . 2 +intronic PTPRT chr20 40998522 40998522 T C het . 3 +intronic PTPRT chr20 41003285 41003285 C A het . 3 +intronic PTPRT chr20 41009460 41009460 T C het . 3 +intronic PTPRT chr20 41068736 41068736 A G het . 1 +intronic PTPRT chr20 41175483 41175483 T C het . 2 +intronic PTPRT chr20 41189977 41189977 C T het . 2 +intronic PTPRT chr20 41264400 41264400 T C het . 2 +exonic PTPRT chr20 41306600 41306600 A G het . 23 +intronic PTPRT chr20 41308546 41308546 T C het . 2 +intronic PTPRT chr20 41322592 41322592 G T het . 2 +intronic PTPRT chr20 41400229 41400229 G A het . 15 +intronic PTPRT chr20 41425776 41425776 C T het . 2 +intronic PTPRT chr20 41425944 41425944 C T het . 2 +intronic PTPRT chr20 41438795 41438795 G A het . 2 +intronic PTPRT chr20 41447705 41447705 T C het . 2 +intronic PTPRT chr20 41457209 41457209 A G het . 2 +intronic PTPRT chr20 41571400 41571400 G A het . 2 +intronic PTPRT chr20 41582424 41582424 A G het . 2 +intronic PTPRT chr20 41751866 41751866 A G het . 2 +intronic PTPRT chr20 41755692 41755692 T C het . 2 +intronic PTPRT chr20 41765122 41765122 T G het . 2 +intergenic PTPRT(dist=239603),SRSF6(dist=28344) chr20 42058160 42058160 A C het . 1 +exonic SRSF6 chr20 42088708 42088708 G A het . 18 +exonic SRSF6 chr20 42089511 42089511 T C het . 10 +intergenic SRSF6(dist=17511),L3MBTL1(dist=26565) chr20 42109755 42109755 G A het . 5 +intronic SGK2 chr20 42191776 42191776 A - het . 2 +intronic SGK2 chr20 42195863 42195863 G C het . 10 +intronic SGK2 chr20 42196498 42196498 A G het . 9 +intronic SGK2 chr20 42196550 42196550 T G het . 4 +intronic SGK2 chr20 42196647 42196647 A T het . 13 +intronic SGK2 chr20 42196738 42196738 C G het . 5 +intronic SGK2 chr20 42205061 42205061 G A het . 3 +intronic SGK2 chr20 42208522 42208522 T G het . 2 +exonic IFT52 chr20 42225114 42225114 G A het . 15 +intronic IFT52 chr20 42230695 42230695 T C het . 2 +intronic IFT52 chr20 42242700 42242700 C T het . 7 +intronic IFT52 chr20 42246198 42246198 C G het . 4 +intronic IFT52 chr20 42249398 42249398 C T het . 11 +intronic IFT52 chr20 42249479 42249479 - T het . 17 +intronic IFT52 chr20 42264017 42264017 G A het . 3 +intronic IFT52 chr20 42264502 42264502 G A het . 3 +exonic IFT52 chr20 42264653 42264653 G A het . 12 +intronic IFT52 chr20 42265650 42265650 A G het . 5 +intronic IFT52 chr20 42265700 42265700 T C het . 15 +intronic IFT52 chr20 42275499 42275499 G T het . 23 +intergenic IFT52(dist=5898),MYBL2(dist=13825) chr20 42281834 42281834 A G het . 21 +intergenic IFT52(dist=5978),MYBL2(dist=13745) chr20 42281914 42281914 A G het . 18 +intergenic IFT52(dist=9520),MYBL2(dist=10203) chr20 42285456 42285456 G T het . 2 +intronic MYBL2 chr20 42300481 42300481 T G het . 2 +intronic MYBL2 chr20 42302201 42302201 C T het . 7 +intronic MYBL2 chr20 42302371 42302371 C T het . 16 +intronic MYBL2 chr20 42308948 42308948 A G het . 2 +intronic MYBL2 chr20 42309154 42309154 T C het . 2 +intronic MYBL2 chr20 42310509 42310509 T C het . 4 +exonic MYBL2 chr20 42328639 42328639 T C het . 11 +exonic MYBL2 chr20 42331457 42331457 A G het . 11 +intergenic GTSF1L(dist=29813),LINC01728(dist=137903) chr20 42385455 42385455 G T het . 3 +intergenic GTSF1L(dist=59443),LINC01728(dist=108273) chr20 42415085 42415085 G A het . 3 +intergenic GTSF1L(dist=60417),LINC01728(dist=107299) chr20 42416059 42416059 G C het . 2 +intergenic GTSF1L(dist=76684),LINC01728(dist=91032) chr20 42432326 42432326 G A het . 2 +intergenic GTSF1L(dist=93477),LINC01728(dist=74238) chr20 42449119 42449120 AA - het . 1 +intergenic GTSF1L(dist=94449),LINC01728(dist=73267) chr20 42450091 42450091 G A het . 2 +intergenic GTSF1L(dist=96804),LINC01728(dist=70912) chr20 42452446 42452446 C T het . 2 +intergenic GTSF1L(dist=119017),LINC01728(dist=48699) chr20 42474659 42474659 T C het . 2 +intergenic GTSF1L(dist=125453),LINC01728(dist=42263) chr20 42481095 42481095 C T het . 2 +ncRNA_intronic LINC01728 chr20 42523565 42523565 G A het . 2 +intronic TOX2 chr20 42551488 42551488 C T het . 2 +intronic TOX2 chr20 42574442 42574442 T C het . 5 +intronic TOX2 chr20 42616512 42616512 T C het . 2 +intronic TOX2 chr20 42624625 42624625 A G het . 2 +intronic TOX2 chr20 42627137 42627137 T C het . 2 +intergenic TOX2(dist=1987),JPH2(dist=40096) chr20 42700241 42700241 A C het . 2 +intergenic TOX2(dist=4943),JPH2(dist=37140) chr20 42703197 42703197 A G het . 3 +intergenic TOX2(dist=16128),JPH2(dist=25955) chr20 42714382 42714382 C T het . 2 +intergenic TOX2(dist=16143),JPH2(dist=25940) chr20 42714397 42714397 A G het . 2 +intergenic TOX2(dist=34099),JPH2(dist=7984) chr20 42732353 42732353 C T het . 2 +intergenic TOX2(dist=40815),JPH2(dist=1268) chr20 42739069 42739069 T - het . 2 +exonic JPH2 chr20 42743454 42743454 A G het . 29 +intronic JPH2 chr20 42744265 42744265 G C het . 23 +intronic JPH2 chr20 42748251 42748251 C T het . 2 +intronic JPH2 chr20 42753882 42753882 T C het . 2 +intronic JPH2 chr20 42768065 42768065 A T het . 2 +intronic JPH2 chr20 42768890 42768890 T C het . 2 +intronic JPH2 chr20 42781444 42781444 A G het . 2 +intronic JPH2 chr20 42783731 42783731 T C het . 2 +intronic JPH2 chr20 42793312 42793323 AAACAAACAAAC - het . 3 +UTR3 JPH2(NM_175913:c.*240C>G) chr20 42806362 42806362 G C het . 2 +UTR3 JPH2(NM_175913:c.*173T>A) chr20 42806429 42806429 A T het . 4 +intronic JPH2 chr20 42808658 42808658 A G het . 2 +intronic JPH2 chr20 42814931 42814931 T C het . 8 +exonic JPH2 chr20 42815190 42815190 G A het . 26 +exonic OSER1 chr20 42825929 42825929 C T het . 16 +exonic OSER1 chr20 42826350 42826350 A C het . 9 +exonic OSER1 chr20 42826379 42826379 C T het . 3 +intronic OSER1 chr20 42835757 42835757 A G het . 8 +exonic FITM2 chr20 42935613 42935613 C A het . 30 +exonic FITM2 chr20 42939750 42939750 T C het . 16 +exonic R3HDML chr20 42965841 42965841 T G het . 5 +exonic R3HDML chr20 42973935 42973935 T C het . 13 +intronic R3HDML chr20 42977504 42977504 T C het . 2 +downstream R3HDML(dist=12) chr20 42979444 42979444 G A het . 9 +UTR5 HNF4A(NM_001258355:c.-187_-181del-,NM_000457:c.-75_-69del-,NM_178850:c.-75_-69del-,NM_178849:c.-75_-69del-) chr20 43029938 43029944 GGAGGGC - het . 3 +intronic HNF4A chr20 43034660 43034660 T C het . 13 +intronic HNF4A chr20 43049176 43049176 T A het . 1 +intronic HNF4A chr20 43052570 43052570 T C het . 7 +intronic HNF4A chr20 43052641 43052641 A C het . 7 +intronic HNF4A chr20 43052645 43052645 T G het . 7 +intronic HNF4A chr20 43054481 43054481 A G het . 3 +intronic HNF4A chr20 43054483 43054483 A G het . 3 +exonic HNF4A chr20 43056991 43056991 A C het . 17 +intronic HNF4A chr20 43058018 43058018 T C het . 5 +intronic HNF4A chr20 43058096 43058096 C G het . 2 +UTR3 HNF4A(NM_175914:c.*155G>A,NM_001287183:c.*155G>A,NM_001030003:c.*155G>A,NM_001287182:c.*155G>A,NM_001258355:c.*155G>A,NM_000457:c.*155G>A,NM_178849:c.*155G>A) chr20 43058460 43058460 G A het . 2 +ncRNA_intronic LINC01620 chr20 43086395 43086395 C A het . 2 +ncRNA_exonic LINC01620 chr20 43090825 43090825 A C het . 12 +intronic TTPAL chr20 43106272 43106275 TATC - het . 6 +exonic TTPAL chr20 43118017 43118017 G A het . 30 +intronic ADA chr20 43252648 43252648 A G het . 7 +exonic ADA chr20 43252915 43252915 T C het . 29 +exonic ADA chr20 43255220 43255220 T C het . 28 +intronic ADA chr20 43264703 43264703 T C het . 2 +exonic ADA chr20 43264927 43264927 C T het . 20 +ncRNA_intronic LINC01260 chr20 43291801 43291801 C A het . 2 +intergenic LINC01260(dist=17536),KCNK15-AS1(dist=22587) chr20 43317916 43317916 A G het . 3 +intergenic LINC01260(dist=34882),KCNK15-AS1(dist=5241) chr20 43335262 43335262 C G het . 2 +ncRNA_intronic KCNK15-AS1 chr20 43347566 43347566 G A het . 3 +ncRNA_intronic KCNK15-AS1 chr20 43362967 43362967 G A het . 2 +ncRNA_intronic KCNK15-AS1 chr20 43364688 43364688 - GGC het . 2 +ncRNA_exonic KCNK15-AS1 chr20 43374840 43374840 C - het . 3 +exonic KCNK15 chr20 43378770 43378770 A G het . 5 +exonic KCNK15 chr20 43379454 43379454 T C het . 3 +intronic RIMS4 chr20 43438782 43438782 C T het . 11 +intergenic RIMS4(dist=32133),YWHAB(dist=43128) chr20 43471112 43471112 G A het . 3 +intergenic RIMS4(dist=60831),YWHAB(dist=14430) chr20 43499810 43499810 A - het . 2 +intergenic RIMS4(dist=67529),YWHAB(dist=7732) chr20 43506508 43506508 G C het . 2 +intergenic RIMS4(dist=68498),YWHAB(dist=6763) chr20 43507477 43507477 A G het . 1 +intergenic RIMS4(dist=72238),YWHAB(dist=3023) chr20 43511217 43511217 T C het . 5 +UTR5 YWHAB(NM_003404:c.-15838G>T,NM_139323:c.-15838G>T) chr20 43514337 43514337 G T het . 3 +intronic YWHAB chr20 43521729 43521729 G A het . 3 +exonic YWHAB chr20 43530234 43530234 A C het . 11 +intronic YWHAB chr20 43534903 43534903 G A het . 7 +UTR3 YWHAB(NM_003404:c.*22T>C,NM_139323:c.*22T>C) chr20 43535101 43535101 T C het . 13 +downstream YWHAB(dist=482) chr20 43537657 43537657 T A het . 2 +UTR5 PABPC1L(NM_001124756:c.-52T>C) chr20 43538733 43538733 T C het . 5 +UTR5 PABPC1L(NM_001124756:c.-43A>C) chr20 43538742 43538742 A C het . 5 +intronic PABPC1L chr20 43541658 43541658 C T het . 2 +exonic PABPC1L chr20 43547677 43547677 T G het . 4 +intronic PABPC1L chr20 43556653 43556653 - A het . 2 +exonic PABPC1L chr20 43566787 43566787 A G het . 9 +intronic PABPC1L chr20 43567442 43567442 T C het . 9 +intronic PABPC1L chr20 43567752 43567752 C A het . 15 +intergenic PABPC1L(dist=1041),TOMM34(dist=1772) chr20 43568999 43568999 T C het . 2 +intronic TOMM34 chr20 43586785 43586785 - TG het . 4 +UTR5 TOMM34(NM_006809:c.-67C>T) chr20 43589041 43589041 G A het . 3 +intronic STK4 chr20 43600673 43600673 C G het . 21 +intronic STK4 chr20 43679399 43679399 A G het . 3 +intronic STK4 chr20 43681951 43681951 C T het . 4 +intronic STK4 chr20 43691984 43691984 G A het . 2 +exonic KCNS1 chr20 43723627 43723627 T C het . 24 +exonic KCNS1 chr20 43727155 43727155 C T het . 10 +intronic KCNS1 chr20 43727367 43727367 T C het . 2 +intergenic PI3(dist=17762),SEMG1(dist=12658) chr20 43822947 43822947 G A het . 2 +intergenic SLPI(dist=15929),MATN4(dist=22952) chr20 43899134 43899134 C A het . 3 +exonic MATN4 chr20 43933163 43933163 T C het . 11 +intergenic RBPJL(dist=5960),SDC4(dist=1505) chr20 43952424 43952424 T C het . 2 +intronic SDC4 chr20 43958850 43958850 A C het . 2 +intronic SDC4 chr20 43958872 43958872 A G het . 2 +intronic SDC4 chr20 43964407 43964407 G C het . 6 +intronic SDC4 chr20 43964707 43964707 - T het . 4 +intronic SDC4 chr20 43969840 43969840 C T het . 2 +intronic SDC4 chr20 43972370 43972370 A T het . 2 +intronic SDC4 chr20 43976791 43976791 G - het . 3 +exonic SDC4 chr20 43976991 43976991 A G het . 17 +ncRNA_intronic SYS1-DBNDD2 chr20 44024238 44024238 T - het . 3 +intergenic PIGT(dist=28338),WFDC2(dist=15171) chr20 44083223 44083223 T C het . 3 +intergenic WFDC2(dist=5769),SPINT3(dist=25160) chr20 44115941 44115941 C A het . 4 +intronic WFDC6 chr20 44163825 44163825 G T het . 9 +UTR3 EPPIN(NM_020398:c.*71G>T,NM_001302861:c.*100G>T) chr20 44170712 44170712 C A het . 4 +intronic EPPIN,EPPIN-WFDC6 chr20 44174423 44174423 G A het . 8 +intergenic WFDC8(dist=12211),WFDC9(dist=16402) chr20 44220176 44220176 A G het . 2 +exonic WFDC9 chr20 44238741 44238741 T G het . 13 +intronic WFDC9 chr20 44254323 44254323 G A het . 3 +intronic WFDC10A,WFDC9 chr20 44259490 44259490 G A het . 6 +exonic WFDC10B chr20 44314609 44314609 A G het . 5 +intronic WFDC10B chr20 44325623 44325623 T C het . 2 +intronic WFDC13 chr20 44334394 44334394 A C het . 8 +intronic WFDC13 chr20 44334588 44334588 C G het . 14 +upstream SPINT4(dist=43) chr20 44350931 44350931 C G het . 8 +exonic SPINT4 chr20 44352620 44352620 G A het . 13 +intronic SPINT4 chr20 44352740 44352740 G A het . 4 +UTR3 SPINT4(NM_178455:c.*98G>A) chr20 44354372 44354372 G A het . 19 +UTR3 SPINT4(NM_178455:c.*113A>C) chr20 44354387 44354387 A C het . 18 +intergenic SPINT4(dist=5166),WFDC3(dist=43212) chr20 44359635 44359635 A G het . 3 +intergenic SPINT4(dist=12264),WFDC3(dist=36114) chr20 44366733 44366733 A T het . 3 +intergenic SPINT4(dist=20037),WFDC3(dist=28341) chr20 44374506 44374506 C - het . 16 +intergenic SPINT4(dist=20278),WFDC3(dist=28100) chr20 44374747 44374747 C T het . 10 +downstream WFDC3(dist=732) chr20 44402115 44402115 A C het . 1 +exonic WFDC3 chr20 44417643 44417643 A G het . 14 +exonic WFDC3 chr20 44417675 44417675 G C het . 10 +intronic WFDC3 chr20 44418471 44418471 G C het . 6 +exonic WFDC3 chr20 44418564 44418564 A G het . 16 +intronic DNTTIP1 chr20 44433733 44433733 C T het . 10 +intronic UBE2C chr20 44442908 44442908 A G het . 5 +intronic UBE2C chr20 44442911 44442922 ATATATATATAT - het . 5 +intronic TNNC2 chr20 44452771 44452771 A G het . 14 +intronic SNX21 chr20 44468931 44468931 T C het . 9 +exonic SNX21 chr20 44470676 44470676 T C het . 16 +intronic ACOT8 chr20 44482660 44482660 T - het . 3 +intronic ZSWIM3 chr20 44493415 44493415 C T het . 2 +intronic ZSWIM3 chr20 44497059 44497059 - T het . 4 +intronic ZSWIM3 chr20 44503984 44503984 - T het . 2 +exonic ZSWIM3 chr20 44505830 44505830 C T het . 23 +exonic ZSWIM3 chr20 44505973 44505973 T C het . 23 +exonic ZSWIM3 chr20 44506418 44506418 G A het . 10 +exonic ZSWIM3 chr20 44506661 44506661 G A het . 15 +UTR3 ZSWIM3(NM_080752:c.*19T>C) chr20 44507307 44507307 T C het . 6 +upstream;downstream SPATA25(dist=206);NEURL2(dist=667) chr20 44516444 44516444 A G het . 2 +UTR3 NEURL2(NM_001278535:c.*123A>G,NM_080749:c.*37A>G) chr20 44517360 44517360 T C het . 3 +exonic CTSA chr20 44520238 44520240 CTG - het . 22 +exonic CTSA chr20 44520579 44520579 C G het . 19 +intronic CTSA chr20 44522005 44522005 A G het . 6 +intronic CTSA chr20 44522594 44522594 A G het . 26 +intronic CTSA chr20 44523248 44523248 T C het . 17 +intronic CTSA chr20 44523443 44523443 C - het . 23 +intronic CTSA chr20 44523547 44523547 G A het . 14 +intronic CTSA chr20 44523782 44523782 C T het . 13 +intronic CTSA chr20 44525465 44525465 C - het . 5 +exonic CTSA chr20 44526676 44526676 G A het . 25 +intronic CTSA chr20 44526783 44526783 G A het . 20 +intronic PLTP chr20 44530838 44530838 G T het . 6 +intronic PLTP chr20 44532484 44532484 G C het . 1 +intronic PLTP chr20 44538484 44538484 G T het . 6 +intronic PLTP chr20 44540178 44540178 A G het . 3 +intronic PCIF1 chr20 44574533 44574533 C T het . 3 +intronic PCIF1 chr20 44574595 44574595 C A het . 4 +UTR3 ZNF335(NM_022095:c.*47G>T) chr20 44577545 44577545 C A het . 9 +exonic ZNF335 chr20 44596207 44596207 C G het . 26 +exonic ZNF335 chr20 44596545 44596545 G A het . 6 +upstream ZNF335(dist=95) chr20 44600928 44600928 C A het . 6 +intergenic ZNF335(dist=3989),MMP9(dist=32725) chr20 44604822 44604822 G A het . 5 +intronic MMP9 chr20 44639511 44639511 C T het . 17 +intronic MMP9 chr20 44640959 44640959 G A het . 17 +exonic MMP9 chr20 44642406 44642406 G C het . 30 +exonic MMP9 chr20 44642833 44642833 A C het . 8 +ncRNA_intronic SLC12A5-AS1 chr20 44645010 44645010 C T het . 21 +intronic SLC12A5 chr20 44668401 44668401 C G het . 2 +intronic SLC12A5 chr20 44675136 44675136 T C het . 2 +exonic SLC12A5 chr20 44678348 44678348 G A het . 10 +intronic SLC12A5 chr20 44684978 44684978 C T het . 6 +exonic NCOA5 chr20 44691350 44691350 T G het . 15 +intronic NCOA5 chr20 44693947 44693947 T C het . 2 +intronic NCOA5 chr20 44697431 44697431 T G het . 2 +intronic NCOA5 chr20 44697437 44697437 G T het . 1 +intergenic NCOA5(dist=10081),CD40(dist=18232) chr20 44728661 44728661 A G het . 7 +intergenic NCOA5(dist=10509),CD40(dist=17804) chr20 44729089 44729089 C A het . 2 +upstream CD40(dist=997) chr20 44745896 44745896 A G het . 2 +UTR5 CD40(NM_001302753:c.-1T>C,NM_001362758:c.-1T>C,NM_001250:c.-1T>C,NM_001322422:c.-1T>C,NM_001322421:c.-1T>C,NM_152854:c.-1T>C) chr20 44746982 44746982 T C het . 20 +exonic CD40 chr20 44757528 44757528 A C het . 13 +intergenic CD40(dist=23153),CDH22(dist=20835) chr20 44781537 44781537 C G het . 2 +intronic CDH22 chr20 44805922 44805922 A G het . 1 +intronic CDH22 chr20 44841359 44841359 A G het . 2 +intronic CDH22 chr20 44914604 44914604 G C het . 2 +intergenic CDH22(dist=19143),SLC35C2(dist=21887) chr20 44956280 44956280 A G het . 2 +intronic SLC35C2 chr20 44979641 44979642 TA GC het . 4 +intronic SLC35C2 chr20 44983517 44983517 G A het . 14 +intronic SLC35C2 chr20 44985307 44985307 T G het . 6 +UTR5 SLC35C2(NM_015945:c.-173G>C,NM_001281460:c.-173G>C,NM_001281459:c.-2812G>C,NM_001281457:c.-2812G>C,NM_173179:c.-173G>C,NM_173073:c.-173G>C) chr20 44987318 44987318 C G het . 19 +exonic ELMO2 chr20 44996182 44996182 A G het . 4 +intronic ELMO2 chr20 44998791 44998791 C T het . 3 +intronic ELMO2 chr20 45003326 45003326 A G het . 8 +intronic ELMO2 chr20 45008729 45008729 G A het . 7 +intergenic MKRN7P(dist=29490),ZNF334(dist=4848) chr20 45123421 45123421 C T het . 2 +upstream ZNF334(dist=80) chr20 45142291 45142291 C G het . 2 +intergenic ZNF334(dist=4038),OCSTAMP(dist=23421) chr20 45146249 45146249 A C het . 3 +exonic OCSTAMP chr20 45170213 45170213 A G het . 25 +exonic OCSTAMP chr20 45174026 45174026 A C het . 5 +intronic SLC13A3 chr20 45195738 45195738 T C het . 3 +intronic SLC13A3 chr20 45203782 45203782 A T het . 2 +exonic SLC13A3 chr20 45204266 45204266 G A het . 10 +intronic SLC13A3 chr20 45206619 45206622 TATT - het . 2 +intronic SLC13A3 chr20 45207478 45207478 - GT het . 11 +intronic SLC13A3 chr20 45207547 45207547 A G het . 15 +intronic SLC13A3 chr20 45212363 45212363 T G het . 6 +intronic SLC13A3 chr20 45263904 45263904 A C het . 3 +intergenic SLC2A10(dist=86670),EYA2(dist=71608) chr20 45451655 45451655 G A het . 2 +intergenic SLC2A10(dist=126856),EYA2(dist=31422) chr20 45491841 45491841 C T het . 2 +intergenic SLC2A10(dist=149035),EYA2(dist=9243) chr20 45514020 45514020 T C het . 2 +intronic EYA2 chr20 45573821 45573821 G A het . 2 +intronic EYA2 chr20 45577865 45577865 C G het . 2 +intronic EYA2 chr20 45609533 45609533 C T het . 2 +intronic EYA2 chr20 45611828 45611828 A T het . 2 +intronic EYA2 chr20 45620565 45620565 C T het . 2 +intronic EYA2 chr20 45640515 45640515 T G het . 3 +intronic EYA2 chr20 45645884 45645884 T C het . 2 +intronic EYA2 chr20 45645939 45645939 T G het . 1 +intronic EYA2 chr20 45645949 45645949 T A het . 2 +intronic EYA2 chr20 45651720 45651720 A G het . 2 +intronic EYA2 chr20 45695362 45695362 T C het . 2 +intronic EYA2 chr20 45711599 45711599 G A het . 2 +intronic EYA2 chr20 45711601 45711601 A C het . 2 +intronic EYA2 chr20 45715571 45715572 AA - het . 3 +intronic EYA2 chr20 45725959 45725959 A G het . 5 +intronic EYA2 chr20 45727394 45727394 C T het . 3 +intronic EYA2 chr20 45740964 45740964 T C het . 2 +intronic EYA2 chr20 45774690 45774690 T A het . 2 +intronic EYA2 chr20 45790110 45790110 G A het . 9 +intronic EYA2 chr20 45794621 45794621 G A het . 2 +intronic EYA2 chr20 45794694 45794694 T C het . 2 +intronic EYA2 chr20 45797883 45797883 C T het . 21 +intronic EYA2 chr20 45797954 45797954 T A het . 10 +intronic EYA2 chr20 45798014 45798014 C G het . 5 +intronic ZMYND8 chr20 45852404 45852404 A G het . 3 +exonic ZMYND8 chr20 45853037 45853037 A G het . 37 +intronic ZMYND8 chr20 45856045 45856045 A G het . 15 +intronic ZMYND8 chr20 45856079 45856079 G C het . 9 +intronic ZMYND8 chr20 45865027 45865027 C A het . 8 +intronic ZMYND8 chr20 45867321 45867324 AAGC - het . 20 +intronic ZMYND8 chr20 45867410 45867410 A - het . 32 +exonic ZMYND8 chr20 45867567 45867569 TGC - het . 21 +intronic ZMYND8 chr20 45879779 45879779 G A het . 2 +intronic ZMYND8 chr20 45891189 45891189 T C het . 17 +intronic ZMYND8 chr20 45900801 45900801 G - het . 2 +intronic ZMYND8 chr20 45905717 45905717 T C het . 8 +intronic ZMYND8 chr20 45923383 45923383 G T het . 13 +intronic ZMYND8 chr20 45923539 45923539 C T het . 13 +intronic ZMYND8 chr20 45985078 45985078 A - het . 7 +intergenic LINC01754(dist=32036),NCOA3(dist=57677) chr20 46072924 46072924 G T het . 2 +intergenic LINC01754(dist=42520),NCOA3(dist=47193) chr20 46083408 46083408 A T het . 3 +intergenic LINC01754(dist=46018),NCOA3(dist=43695) chr20 46086906 46086906 - AAAGAAAG het . 2 +intergenic LINC01754(dist=74501),NCOA3(dist=15212) chr20 46115389 46115389 C T het . 2 +intergenic LINC01754(dist=83179),NCOA3(dist=6534) chr20 46124067 46124067 T C het . 4 +intergenic LINC01754(dist=83201),NCOA3(dist=6512) chr20 46124089 46124089 - AAAC het . 2 +intergenic LINC01754(dist=83237),NCOA3(dist=6476) chr20 46124125 46124125 G A het . 3 +intergenic LINC01754(dist=83894),NCOA3(dist=5819) chr20 46124782 46124782 A T het . 2 +intronic NCOA3 chr20 46144117 46144117 T C het . 2 +intronic NCOA3 chr20 46174646 46174646 A G het . 2 +intronic NCOA3 chr20 46210009 46210009 G A het . 2 +exonic NCOA3 chr20 46265139 46265139 C A het . 26 +intronic NCOA3 chr20 46267950 46267950 C T het . 11 +UTR3 SULF2(NM_018837:c.*94G>C,NM_198596:c.*94G>C,NM_001161841:c.*94G>C) chr20 46287012 46287012 C G het . 10 +intronic SULF2 chr20 46288566 46288566 T G het . 14 +intronic SULF2 chr20 46294725 46294725 C T het . 5 +intronic SULF2 chr20 46323182 46323182 A C het . 3 +intronic SULF2 chr20 46323185 46323185 A G het . 3 +intronic SULF2 chr20 46331720 46331720 T G het . 2 +intergenic SULF2(dist=101279),LINC01522(dist=92198) chr20 46516639 46516639 C T het . 2 +intergenic SULF2(dist=108232),LINC01522(dist=85245) chr20 46523592 46523592 C G het . 5 +intergenic SULF2(dist=108256),LINC01522(dist=85221) chr20 46523616 46523616 A T het . 2 +intergenic SULF2(dist=108485),LINC01522(dist=84992) chr20 46523845 46523845 G T het . 3 +intergenic LINC01522(dist=8601),LINC00494(dist=361192) chr20 46627462 46627462 T C het . 2 +intergenic LINC01522(dist=23831),LINC00494(dist=345962) chr20 46642692 46642692 C T het . 2 +intergenic LINC01522(dist=37906),LINC00494(dist=331887) chr20 46656767 46656767 G T het . 2 +intergenic LINC01522(dist=43335),LINC00494(dist=326458) chr20 46662196 46662196 C A het . 3 +intergenic LINC01522(dist=52665),LINC00494(dist=317128) chr20 46671526 46671526 C G het . 2 +intergenic LINC01522(dist=52667),LINC00494(dist=317126) chr20 46671528 46671528 G A het . 2 +intergenic LINC01522(dist=65655),LINC00494(dist=304138) chr20 46684516 46684516 C G het . 3 +intergenic LINC01522(dist=66356),LINC00494(dist=303437) chr20 46685217 46685217 - TTCAT het . 2 +intergenic LINC01522(dist=136919),LINC00494(dist=232874) chr20 46755780 46755780 G C het . 3 +intergenic LINC01522(dist=151127),LINC00494(dist=218666) chr20 46769988 46769988 A G het . 4 +intergenic LINC01522(dist=151205),LINC00494(dist=218588) chr20 46770066 46770066 G A het . 11 +intergenic LINC01522(dist=257374),LINC00494(dist=112419) chr20 46876235 46876235 G A het . 2 +intergenic LINC01522(dist=356218),LINC00494(dist=13575) chr20 46975079 46975079 C G het . 2 +intergenic LINC00494(dist=37929),PREX1(dist=203483) chr20 47037310 47037310 G A het . 2 +intergenic LINC00494(dist=40894),PREX1(dist=200518) chr20 47040275 47040275 C G het . 2 +intergenic LINC00494(dist=45232),PREX1(dist=196180) chr20 47044613 47044613 G A het . 2 +intergenic LINC00494(dist=73550),PREX1(dist=167862) chr20 47072931 47072931 T A het . 4 +intergenic LINC00494(dist=93100),PREX1(dist=148312) chr20 47092481 47092481 C T het . 2 +intergenic LINC00494(dist=93136),PREX1(dist=148276) chr20 47092517 47092517 G A het . 2 +intergenic LINC00494(dist=93336),PREX1(dist=148076) chr20 47092717 47092717 A G het . 2 +intergenic LINC00494(dist=93338),PREX1(dist=148074) chr20 47092719 47092719 G A het . 2 +intergenic LINC00494(dist=99024),PREX1(dist=142388) chr20 47098405 47098405 A G het . 2 +intergenic LINC00494(dist=110941),PREX1(dist=130471) chr20 47110322 47110322 - TG het . 3 +intergenic LINC00494(dist=110942),PREX1(dist=130470) chr20 47110323 47110323 C T het . 3 +intergenic LINC00494(dist=136514),PREX1(dist=104898) chr20 47135895 47135895 - A het . 2 +intergenic LINC00494(dist=159857),PREX1(dist=81555) chr20 47159238 47159238 G T het . 2 +intergenic LINC00494(dist=170632),PREX1(dist=70780) chr20 47170013 47170013 C A het . 2 +intergenic LINC00494(dist=185950),PREX1(dist=55462) chr20 47185331 47185331 - TT het . 2 +intergenic LINC00494(dist=186020),PREX1(dist=55392) chr20 47185401 47185401 G A het . 2 +intergenic LINC00494(dist=197428),PREX1(dist=43984) chr20 47196809 47196809 T C het . 3 +intergenic LINC00494(dist=197842),PREX1(dist=43570) chr20 47197223 47197223 G A het . 2 +intergenic LINC00494(dist=197849),PREX1(dist=43563) chr20 47197230 47197230 C T het . 2 +intergenic LINC00494(dist=199134),PREX1(dist=42277) chr20 47198515 47198516 TC - het . 1 +exonic PREX1 chr20 47253150 47253150 T C het . 26 +intronic PREX1 chr20 47272963 47272963 - C het . 5 +intronic PREX1 chr20 47273037 47273037 C T het . 12 +intronic PREX1 chr20 47360528 47360530 TGA - het . 6 +intronic PREX1 chr20 47361519 47361519 T C het . 11 +intronic PREX1 chr20 47382721 47382721 T C het . 2 +intronic PREX1 chr20 47386456 47386456 A G het . 2 +intronic PREX1 chr20 47394788 47394788 G A het . 3 +intronic PREX1 chr20 47394809 47394809 C A het . 1 +intergenic PREX1(dist=21261),ARFGEF2(dist=72594) chr20 47465681 47465681 G A het . 2 +intronic ARFGEF2 chr20 47568108 47568108 C A het . 18 +intronic ARFGEF2 chr20 47615075 47615075 A - het . 15 +intronic ARFGEF2 chr20 47648455 47648456 AA - het . 16 +intronic ARFGEF2 chr20 47649511 47649511 A - het . 15 +downstream CSE1L-AS1(dist=319) chr20 47656681 47656681 A T het . 2 +downstream CSE1L-AS1(dist=213) chr20 47656787 47656787 A G het . 2 +intronic CSE1L chr20 47695473 47695473 A G het . 3 +intronic CSE1L chr20 47705764 47705764 T - het . 9 +intronic CSE1L chr20 47710559 47710561 CAG - het . 7 +UTR3 CSE1L(NM_001362762:c.*339C>T,NM_001256135:c.*88C>T,NM_001316:c.*88C>T) chr20 47713063 47713063 C T het . 3 +UTR3 STAU1(NM_001322929:c.*187T>G,NM_001322933:c.*187T>G,NM_001322932:c.*187T>G,NM_001319134:c.*187T>G,NM_004602:c.*187T>G,NM_017452:c.*187T>G,NM_017454:c.*187T>G,NM_001322930:c.*187T>G,NM_017453:c.*187T>G,NM_001322931:c.*187T>G,NM_001319135:c.*187T>G,NM_001322928:c.*187T>G,NM_001322927:c.*187T>G,NM_001037328:c.*187T>G) chr20 47731228 47731228 A C het . 2 +intronic STAU1 chr20 47734962 47734962 A - het . 12 +intronic STAU1 chr20 47739814 47739814 C T het . 12 +intronic STAU1 chr20 47751001 47751001 C T het . 7 +intronic STAU1 chr20 47751709 47751711 AAG - het . 3 +intronic STAU1 chr20 47755075 47755075 G A het . 3 +intronic STAU1 chr20 47770756 47770756 A C het . 3 +splicing STAU1(NM_001322931:exon4:c.21+2->G,NM_001322928:exon3:c.21+2->G) chr20 47775474 47775474 - C het . 4 +intronic STAU1 chr20 47782357 47782358 CT - het . 2 +intronic STAU1 chr20 47800657 47800657 A G het . 2 +UTR5 STAU1(NM_001319135:c.-22482C>G) chr20 47805220 47805220 G C het . 2 +intronic STAU1 chr20 47828526 47828526 G T het . 2 +intronic DDX27 chr20 47837126 47837126 G C het . 2 +intronic DDX27 chr20 47839653 47839653 C T het . 3 +exonic DDX27 chr20 47841504 47841506 GAA - het . 24 +intronic DDX27 chr20 47841911 47841911 T C het . 3 +intronic DDX27 chr20 47843146 47843146 A T het . 3 +intronic DDX27 chr20 47845220 47845220 T A het . 3 +intronic DDX27 chr20 47849526 47849526 G A het . 1 +exonic DDX27 chr20 47850182 47850182 C T het . 24 +intronic DDX27 chr20 47852822 47852822 G A het . 6 +intronic DDX27 chr20 47855159 47855159 C G het . 2 +intronic DDX27 chr20 47856243 47856243 - G het . 5 +intronic DDX27 chr20 47858072 47858072 C T het . 2 +intronic DDX27 chr20 47859015 47859015 A G het . 2 +exonic DDX27 chr20 47859217 47859217 G A het . 24 +intronic DDX27 chr20 47859255 47859268 TTTTTTTTTTTTTT - het . 13 +UTR3 ZNFX1(NM_021035:c.*394_*393delAA) chr20 47863410 47863411 TT - het . 16 +exonic ZNFX1 chr20 47865372 47865372 G A het . 8 +exonic ZNFX1 chr20 47865509 47865509 G A het . 17 +exonic ZNFX1 chr20 47866044 47866044 C A het . 14 +intronic ZNFX1 chr20 47872327 47872327 A G het . 9 +exonic ZNFX1 chr20 47872377 47872377 C G het . 12 +intronic ZNFX1 chr20 47882893 47882893 T A het . 9 +intronic ZNFX1 chr20 47884584 47884584 T A het . 2 +exonic ZNFX1 chr20 47886684 47886684 G A het . 15 +intronic ZNFX1 chr20 47892270 47892270 T C het . 7 +ncRNA_exonic SNORD12B chr20 47896907 47896907 A C het . 34 +intergenic ZFAS1(dist=7231),KCNB1(dist=67388) chr20 47913026 47913026 T G het . 2 +intergenic ZFAS1(dist=13403),KCNB1(dist=61216) chr20 47919198 47919198 G A het . 2 +intergenic ZFAS1(dist=17963),KCNB1(dist=56656) chr20 47923758 47923758 A G het . 2 +intergenic ZFAS1(dist=30729),KCNB1(dist=43890) chr20 47936524 47936524 A - het . 3 +intronic KCNB1 chr20 48025102 48025102 A G het . 1 +intergenic KCNB1(dist=4630),PTGIS(dist=16600) chr20 48103811 48103811 G A het . 2 +exonic PTGIS chr20 48156246 48156246 C A het . 23 +intergenic PTGIS(dist=35375),B4GALT5(dist=29401) chr20 48220082 48220082 T G het . 1 +intergenic PTGIS(dist=35395),B4GALT5(dist=29381) chr20 48220102 48220102 A G het . 2 +intergenic PTGIS(dist=49728),B4GALT5(dist=15048) chr20 48234435 48234435 C T het . 3 +exonic B4GALT5 chr20 48257149 48257149 C T het . 17 +exonic B4GALT5 chr20 48259034 48259034 A G het . 18 +intronic B4GALT5 chr20 48273299 48273299 T C het . 7 +intronic B4GALT5 chr20 48301146 48301146 G A het . 16 +intronic B4GALT5 chr20 48321285 48321285 A C het . 2 +intergenic B4GALT5(dist=20939),SLC9A8(dist=77890) chr20 48351360 48351360 C T het . 2 +intergenic B4GALT5(dist=29667),SLC9A8(dist=69162) chr20 48360088 48360088 T C het . 2 +intergenic B4GALT5(dist=77738),SLC9A8(dist=21091) chr20 48408159 48408159 C G het . 2 +intergenic B4GALT5(dist=92018),SLC9A8(dist=6811) chr20 48422439 48422439 C T het . 3 +intronic SLC9A8 chr20 48463432 48463432 C T het . 2 +intronic SLC9A8 chr20 48465722 48465722 G T het . 3 +intronic SLC9A8 chr20 48479357 48479360 ATGA - het . 9 +exonic SLC9A8 chr20 48491258 48491258 T G het . 10 +intronic SLC9A8 chr20 48494614 48494614 T - het . 16 +intronic SLC9A8 chr20 48494743 48494744 AA - het . 7 +intergenic SLC9A8(dist=7732),SPATA2(dist=3418) chr20 48516511 48516511 A C het . 2 +exonic SPATA2 chr20 48522330 48522330 G A het . 18 +exonic SPATA2 chr20 48522585 48522585 G A het . 4 +exonic SPATA2 chr20 48524827 48524827 A G het . 14 +intronic SPATA2 chr20 48528237 48528237 G A het . 2 +intergenic LOC105372653(dist=2922),RNF114(dist=4634) chr20 48548280 48548280 A C het . 2 +intronic RNF114 chr20 48561893 48561893 A G het . 12 +intronic RNF114 chr20 48562083 48562083 - TTGGACACC het . 4 +intronic RNF114 chr20 48562446 48562446 G C het . 4 +intronic RNF114 chr20 48568518 48568518 C T het . 1 +intergenic RNF114(dist=3559),SNAI1(dist=25531) chr20 48573981 48573982 TG - het . 15 +intergenic RNF114(dist=3629),SNAI1(dist=25462) chr20 48574051 48574051 A G het . 9 +intergenic RNF114(dist=3694),SNAI1(dist=25397) chr20 48574116 48574116 T C het . 5 +intergenic RNF114(dist=4032),SNAI1(dist=25059) chr20 48574454 48574454 G A het . 13 +intergenic RNF114(dist=4275),SNAI1(dist=24816) chr20 48574697 48574697 - TC het . 9 +intergenic RNF114(dist=7814),SNAI1(dist=21277) chr20 48578236 48578236 G T het . 2 +intergenic RNF114(dist=18650),SNAI1(dist=10439) chr20 48589072 48589074 TTC - het . 1 +upstream SNAI1(dist=39) chr20 48599474 48599474 C - het . 3 +intergenic SNAI1(dist=2584),TRERNA1(dist=49240) chr20 48608004 48608004 C A het . 2 +intergenic SNAI1(dist=10176),TRERNA1(dist=41648) chr20 48615596 48615596 A - het . 2 +intergenic SNAI1(dist=35406),TRERNA1(dist=16418) chr20 48640826 48640826 A - het . 2 +intergenic SNAI1(dist=45641),TRERNA1(dist=6183) chr20 48651061 48651061 T C het . 2 +intronic TMEM189-UBE2V1,UBE2V1 chr20 48700947 48700947 T C het . 23 +UTR5 UBE2V1(NM_001282578:c.-27C>T,NM_001282577:c.-27C>T,NM_001282575:c.-27C>T) chr20 48713049 48713049 G A het . 13 +intronic TMEM189-UBE2V1,UBE2V1 chr20 48722949 48722949 T A het . 2 +UTR5 UBE2V1(NM_001282576:c.-16424G>C,NM_001282578:c.-16655G>C,NM_001282577:c.-16655G>C,NM_001282579:c.-16424G>C,NM_001257399:c.-16424G>C,NM_001257398:c.-16424G>C,NM_001257397:c.-16424G>C,NM_001257396:c.-12G>C,NM_001257395:c.-12G>C,NM_001032288:c.-12G>C,NM_001282580:c.-12G>C) chr20 48729677 48729677 C G het . 2 +exonic TMEM189,TMEM189-UBE2V1 chr20 48746189 48746189 C T het . 19 +intronic TMEM189,TMEM189-UBE2V1 chr20 48747697 48747697 T C het . 11 +exonic TMEM189,TMEM189-UBE2V1 chr20 48770159 48770159 T C het . 4 +intergenic TMEM189-UBE2V1(dist=14284),LINC01273(dist=4487) chr20 48784619 48784620 TT - het . 2 +intergenic TMEM189-UBE2V1(dist=14466),LINC01273(dist=4306) chr20 48784801 48784801 A G het . 3 +exonic CEBPB chr20 48808011 48808011 C T het . 7 +intergenic CEBPB(dist=23636),SMIM25(dist=51160) chr20 48832863 48832863 G A het . 2 +intronic SMIM25 chr20 48892145 48892145 T - het . 8 +intronic SMIM25 chr20 48894470 48894470 C G het . 2 +exonic SMIM25 chr20 48894756 48894756 C T het . 19 +UTR3 SMIM25(NM_001278655:c.*6T>C) chr20 48894872 48894872 T C het . 6 +intergenic LINC01271(dist=27537),PTPN1(dist=161442) chr20 48965416 48965416 T - het . 2 +intergenic LINC01271(dist=156753),PTPN1(dist=32226) chr20 49094632 49094632 C T het . 2 +intergenic LINC01271(dist=159148),PTPN1(dist=29831) chr20 49097027 49097027 T C het . 3 +intergenic LINC01271(dist=182418),PTPN1(dist=6561) chr20 49120297 49120297 A - het . 3 +intronic PTPN1 chr20 49160452 49160452 G A het . 2 +intronic PTPN1 chr20 49190389 49190389 T G het . 2 +intronic PTPN1 chr20 49191904 49191904 T C het . 1 +intronic PTPN1 chr20 49194866 49194866 - T het . 2 +intronic PTPN1 chr20 49196167 49196167 T C het . 8 +intronic PTPN1 chr20 49196599 49196599 C T het . 3 +intronic PTPN1 chr20 49196602 49196602 G A het . 3 +exonic RIPOR3 chr20 49214156 49214156 A G het . 19 +intronic RIPOR3 chr20 49214383 49214383 G C het . 2 +intronic RIPOR3 chr20 49225953 49225953 A G het . 3 +intronic RIPOR3 chr20 49227294 49227294 T C het . 8 +intronic RIPOR3 chr20 49237419 49237419 G T het . 7 +intronic RIPOR3 chr20 49237757 49237757 C G het . 5 +intronic RIPOR3 chr20 49261382 49261382 T - het . 2 +ncRNA_intronic LOC100506175 chr20 49265500 49265500 A G het . 2 +intronic RIPOR3 chr20 49282720 49282720 A T het . 16 +intronic RIPOR3 chr20 49282760 49282760 T - het . 20 +intronic RIPOR3 chr20 49301021 49301021 A G het . 2 +intergenic RIPOR3(dist=18146),PARD6B(dist=21868) chr20 49326213 49326213 G A het . 2 +intergenic RIPOR3(dist=33729),PARD6B(dist=6285) chr20 49341796 49341796 C - het . 2 +intronic PARD6B chr20 49354352 49354352 T - het . 5 +UTR3 PARD6B(NM_032521:c.*51T>G) chr20 49367076 49367076 T G het . 6 +exonic BCAS4 chr20 49411698 49411698 G T het . 8 +intronic BCAS4 chr20 49434670 49434670 A - het . 8 +intronic BCAS4 chr20 49467611 49467611 G - het . 2 +intronic BCAS4 chr20 49476288 49476288 A C het . 2 +intronic BCAS4 chr20 49490116 49490116 C T het . 2 +exonic ADNP chr20 49509184 49509184 G A het . 12 +intronic ADNP chr20 49530928 49530928 G C het . 4 +intronic ADNP chr20 49536969 49536969 G T het . 2 +ncRNA_intronic ADNP-AS1 chr20 49551780 49551780 - A het . 21 +ncRNA_intronic ADNP-AS1 chr20 49552904 49552904 A G het . 6 +intronic DPM1 chr20 49565355 49565355 A - het . 9 +intronic DPM1 chr20 49573618 49573618 C A het . 2 +upstream DPM1,MOCS3(dist=17) chr20 49575334 49575334 A C het . 12 +UTR3 MOCS3(NM_014484:c.*796C>T) chr20 49577558 49577558 C T het . 2 +intergenic MOCS3(dist=4064),KCNG1(dist=37730) chr20 49582463 49582463 A G het . 2 +intergenic MOCS3(dist=7033),KCNG1(dist=34761) chr20 49585432 49585432 A C het . 2 +intergenic MOCS3(dist=8566),KCNG1(dist=33228) chr20 49586965 49586965 T C het . 2 +intergenic MOCS3(dist=9327),KCNG1(dist=32467) chr20 49587726 49587726 C G het . 2 +intergenic MOCS3(dist=9564),KCNG1(dist=32230) chr20 49587963 49587963 A C het . 3 +intergenic MOCS3(dist=21396),KCNG1(dist=20398) chr20 49599795 49599795 A G het . 4 +intergenic MOCS3(dist=22033),KCNG1(dist=19761) chr20 49600432 49600432 C T het . 2 +intergenic MOCS3(dist=23301),KCNG1(dist=18493) chr20 49601700 49601700 T - het . 2 +intergenic MOCS3(dist=24438),KCNG1(dist=17356) chr20 49602837 49602837 T A het . 2 +exonic KCNG1 chr20 49620783 49620783 G T het . 8 +exonic KCNG1 chr20 49621149 49621149 T C het . 10 +intronic KCNG1 chr20 49628716 49628716 C T het . 2 +intergenic KCNG1(dist=30019),NFATC2(dist=333800) chr20 49669694 49669694 T A het . 6 +intergenic KCNG1(dist=30120),NFATC2(dist=333699) chr20 49669795 49669795 G A het . 13 +intergenic KCNG1(dist=30181),NFATC2(dist=333638) chr20 49669856 49669856 G C het . 6 +intergenic KCNG1(dist=43951),NFATC2(dist=319868) chr20 49683626 49683626 G A het . 2 +intergenic KCNG1(dist=100965),NFATC2(dist=262851) chr20 49740640 49740643 TAGC - het . 2 +intergenic KCNG1(dist=107502),NFATC2(dist=256317) chr20 49747177 49747177 - AC het . 2 +intergenic KCNG1(dist=107519),NFATC2(dist=256300) chr20 49747194 49747194 G A het . 2 +intergenic KCNG1(dist=147999),NFATC2(dist=215820) chr20 49787674 49787674 A C het . 3 +intergenic KCNG1(dist=233584),NFATC2(dist=130235) chr20 49873259 49873259 A G het . 2 +intergenic KCNG1(dist=342786),NFATC2(dist=21033) chr20 49982461 49982461 G A het . 2 +intergenic KCNG1(dist=357066),NFATC2(dist=6753) chr20 49996741 49996741 G A het . 2 +intronic NFATC2 chr20 50015108 50015108 A - het . 17 +intronic NFATC2 chr20 50015301 50015301 A - het . 21 +intronic NFATC2 chr20 50017662 50017662 G T het . 2 +intronic NFATC2 chr20 50026139 50026139 C T het . 2 +intronic NFATC2 chr20 50064246 50064246 C T het . 2 +intronic NFATC2 chr20 50071258 50071258 A G het . 6 +exonic NFATC2 chr20 50092027 50092027 T G het . 21 +intronic NFATC2 chr20 50175535 50175535 T G het . 2 +intronic NFATC2 chr20 50178965 50178965 G C het . 6 +intergenic NFATC2(dist=25644),ATP9A(dist=8300) chr20 50205014 50205014 - C het . 3 +intergenic NFATC2(dist=25670),ATP9A(dist=8274) chr20 50205040 50205040 T C het . 3 +downstream ATP9A(dist=780) chr20 50212534 50212534 G A het . 4 +intronic ATP9A chr20 50224161 50224161 C T het . 12 +intronic ATP9A chr20 50224206 50224206 G A het . 8 +intronic ATP9A chr20 50225206 50225206 G A het . 5 +intronic ATP9A chr20 50225235 50225235 G A het . 4 +intronic ATP9A chr20 50230462 50230462 A G het . 4 +intronic ATP9A chr20 50233581 50233581 G A het . 2 +intronic ATP9A chr20 50233927 50233930 TTCT - het . 10 +intronic ATP9A chr20 50234151 50234151 G T het . 10 +exonic ATP9A chr20 50235577 50235577 G A het . 10 +intronic ATP9A chr20 50238545 50238545 A G het . 7 +intronic ATP9A chr20 50241714 50241714 C A het . 4 +intronic ATP9A chr20 50244098 50244098 T C het . 7 +intronic ATP9A chr20 50286484 50286484 - A het . 17 +intronic ATP9A chr20 50287553 50287553 G A het . 4 +exonic ATP9A chr20 50287790 50287790 A G het . 10 +intronic ATP9A chr20 50290654 50290654 T C het . 11 +intronic ATP9A chr20 50290924 50290924 G C het . 7 +intronic ATP9A chr20 50297908 50297908 A G het . 2 +intronic ATP9A chr20 50301419 50301419 A G het . 2 +intronic ATP9A chr20 50303008 50303008 C A het . 2 +intronic ATP9A chr20 50305755 50305755 G A het . 4 +intronic ATP9A chr20 50305761 50305761 G A het . 4 +intronic ATP9A chr20 50307132 50307132 C T het . 5 +intronic ATP9A chr20 50307502 50307502 G C het . 8 +intronic ATP9A chr20 50310483 50310483 - TC het . 1 +intronic ATP9A chr20 50310668 50310668 C T het . 10 +intronic ATP9A chr20 50329416 50329416 T C het . 8 +intronic ATP9A chr20 50329704 50329704 G A het . 14 +intronic ATP9A chr20 50329755 50329755 G A het . 3 +intronic ATP9A chr20 50331974 50331974 T A het . 2 +intronic ATP9A chr20 50342285 50342285 A G het . 12 +intronic ATP9A chr20 50342555 50342555 C T het . 8 +intronic ATP9A chr20 50347558 50347558 T A het . 2 +intronic ATP9A chr20 50356913 50356913 T C het . 3 +intronic ATP9A chr20 50384821 50384821 A G het . 3 +UTR3 SALL4(NM_001318031:c.*245_*246insTT,NM_020436:c.*245_*246insTT) chr20 50400558 50400558 - AA het . 3 +UTR3 SALL4(NM_001318031:c.*211_*212insA,NM_020436:c.*211_*212insA) chr20 50400592 50400592 - T het . 4 +exonic SALL4 chr20 50406985 50406985 G A het . 35 +exonic SALL4 chr20 50407966 50407966 C T het . 14 +exonic SALL4 chr20 50408482 50408482 A G het . 16 +intergenic SALL4(dist=20992),LINC01429(dist=8282) chr20 50440054 50440054 G T het . 3 +ncRNA_intronic LINC01429 chr20 50477269 50477269 T C het . 2 +intergenic LINC01429(dist=7053),ZFP64(dist=214045) chr20 50486505 50486505 C T het . 2 +intergenic LINC01429(dist=10208),ZFP64(dist=210890) chr20 50489660 50489660 T C het . 2 +intergenic LINC01429(dist=34093),ZFP64(dist=187005) chr20 50513545 50513545 G A het . 2 +intergenic LINC01429(dist=34149),ZFP64(dist=186949) chr20 50513601 50513601 C A het . 3 +intergenic LINC01429(dist=66299),ZFP64(dist=154799) chr20 50545751 50545751 T C het . 2 +intergenic LINC01429(dist=92693),ZFP64(dist=128405) chr20 50572145 50572145 A G het . 2 +intergenic LINC01429(dist=113324),ZFP64(dist=107773) chr20 50592776 50592777 AA - het . 7 +intergenic LINC01429(dist=113339),ZFP64(dist=107759) chr20 50592791 50592791 G A het . 7 +intergenic LINC01429(dist=113344),ZFP64(dist=107754) chr20 50592796 50592796 A G het . 7 +intergenic LINC01429(dist=118778),ZFP64(dist=102320) chr20 50598230 50598230 T G het . 2 +intergenic LINC01429(dist=133537),ZFP64(dist=87561) chr20 50612989 50612989 T C het . 2 +intergenic LINC01429(dist=142017),ZFP64(dist=79081) chr20 50621469 50621469 C T het . 2 +intergenic LINC01429(dist=146530),ZFP64(dist=74568) chr20 50625982 50625982 - ATC het . 3 +intergenic LINC01429(dist=189058),ZFP64(dist=32040) chr20 50668510 50668510 T C het . 4 +intergenic LINC01429(dist=189295),ZFP64(dist=31790) chr20 50668747 50668760 TTTATATTTATATA - het . 14 +intergenic LINC01429(dist=198882),ZFP64(dist=22216) chr20 50678334 50678334 T C het . 3 +intergenic LINC01429(dist=216158),ZFP64(dist=4940) chr20 50695610 50695610 - AGACTG het . 2 +intergenic LINC01429(dist=217371),ZFP64(dist=3727) chr20 50696823 50696823 C T het . 2 +intronic ZFP64 chr20 50705584 50705584 C T het . 12 +intronic ZFP64 chr20 50713653 50713653 A - het . 19 +intronic ZFP64 chr20 50713993 50713993 T - het . 9 +intronic ZFP64 chr20 50727509 50727509 C T het . 21 +intronic ZFP64 chr20 50727547 50727547 C G het . 15 +intronic ZFP64 chr20 50734144 50734144 C T het . 14 +intronic ZFP64 chr20 50734238 50734238 T C het . 10 +intronic ZFP64 chr20 50739535 50739535 T - het . 5 +intronic ZFP64 chr20 50759499 50759499 A C het . 2 +intronic ZFP64 chr20 50761157 50761157 T C het . 2 +UTR3 ZFP64(NM_018197:c.*12delA,NM_022088:c.*12delA,NM_199426:c.*12delA) chr20 50768673 50768673 T - het . 7 +exonic ZFP64 chr20 50769379 50769379 C T het . 11 +exonic ZFP64 chr20 50769549 50769549 A G het . 12 +intronic ZFP64 chr20 50775605 50775605 G C het . 2 +intronic ZFP64 chr20 50779338 50779338 T A het . 3 +intronic ZFP64 chr20 50781299 50781300 AA - het . 30 +intronic ZFP64 chr20 50781725 50781725 G A het . 33 +intronic ZFP64 chr20 50782102 50782102 T C het . 34 +intronic ZFP64 chr20 50782608 50782608 G T het . 9 +intronic ZFP64 chr20 50783449 50783449 T C het . 3 +upstream ZFP64(dist=804) chr20 50809328 50809330 TTC - het . 4 +intergenic ZFP64(dist=16834),LINC01524(dist=412019) chr20 50825358 50825358 C T het . 2 +intergenic ZFP64(dist=18466),LINC01524(dist=410387) chr20 50826990 50826990 G C het . 2 +intergenic ZFP64(dist=57669),LINC01524(dist=371184) chr20 50866193 50866193 G A het . 3 +intergenic ZFP64(dist=100083),LINC01524(dist=328770) chr20 50908607 50908607 A G het . 2 +intergenic ZFP64(dist=182537),LINC01524(dist=246316) chr20 50991061 50991061 C T het . 2 +intergenic ZFP64(dist=246509),LINC01524(dist=182344) chr20 51055033 51055033 T C het . 2 +intergenic ZFP64(dist=276340),LINC01524(dist=152513) chr20 51084864 51084864 - AT het . 1 +intergenic ZFP64(dist=276364),LINC01524(dist=152489) chr20 51084888 51084888 C T het . 2 +intergenic ZFP64(dist=327109),LINC01524(dist=101744) chr20 51135633 51135633 G A het . 3 +intergenic ZFP64(dist=365848),LINC01524(dist=63005) chr20 51174372 51174372 T C het . 4 +intergenic ZFP64(dist=366289),LINC01524(dist=62564) chr20 51174813 51174813 A G het . 2 +intergenic ZFP64(dist=415070),LINC01524(dist=13783) chr20 51223594 51223594 A T het . 5 +ncRNA_intronic LINC01524 chr20 51262076 51262076 G A het . 3 +ncRNA_intronic LINC01524 chr20 51262151 51262151 T C het . 2 +intergenic LINC01524(dist=3940),TSHZ2(dist=318041) chr20 51270905 51270905 G T het . 2 +intergenic LINC01524(dist=5837),TSHZ2(dist=316144) chr20 51272802 51272802 G T het . 2 +intergenic LINC01524(dist=7630),TSHZ2(dist=314351) chr20 51274595 51274595 C T het . 2 +intergenic LINC01524(dist=16130),TSHZ2(dist=305851) chr20 51283095 51283095 C T het . 2 +intergenic LINC01524(dist=77946),TSHZ2(dist=244035) chr20 51344911 51344911 C A het . 2 +intergenic LINC01524(dist=147368),TSHZ2(dist=174613) chr20 51414333 51414333 C T het . 2 +intergenic LINC01524(dist=246572),TSHZ2(dist=75409) chr20 51513537 51513537 A C het . 2 +intergenic LINC01524(dist=294604),TSHZ2(dist=27377) chr20 51561569 51561569 C T het . 6 +intergenic LINC01524(dist=311568),TSHZ2(dist=10413) chr20 51578533 51578533 A G het . 2 +intronic TSHZ2 chr20 51648224 51648224 G A het . 2 +intronic TSHZ2 chr20 51655398 51655398 - T het . 9 +intronic TSHZ2 chr20 51735016 51735016 T C het . 1 +intronic TSHZ2 chr20 51735051 51735051 G C het . 1 +intronic TSHZ2 chr20 51795684 51795684 T - het . 2 +UTR5 TSHZ2(NM_001193421:c.-117C>G) chr20 51802068 51802068 C G het . 7 +UTR5 TSHZ2(NM_001193421:c.-53T>C) chr20 51802132 51802132 T C het . 13 +intronic TSHZ2 chr20 51832146 51832146 A C het . 5 +intronic TSHZ2 chr20 51837642 51837642 T A het . 2 +intronic TSHZ2 chr20 51846445 51846445 A - het . 3 +exonic TSHZ2 chr20 51870849 51870849 T C het . 26 +intronic TSHZ2 chr20 51942208 51942208 - TTGT het . 5 +intronic TSHZ2 chr20 51956630 51956630 T C het . 2 +intronic TSHZ2 chr20 51956723 51956723 C T het . 1 +intronic TSHZ2 chr20 52009099 52009099 - T het . 2 +intronic TSHZ2 chr20 52011382 52011382 T A het . 2 +intronic TSHZ2 chr20 52050765 52050765 G A het . 2 +intronic TSHZ2 chr20 52059558 52059558 C T het . 2 +intronic TSHZ2 chr20 52086967 52086967 G A het . 4 +intronic TSHZ2 chr20 52099372 52099372 G A het . 2 +intergenic TSHZ2(dist=45561),LOC101927770(dist=11879) chr20 52157430 52157430 C G het . 4 +ncRNA_intronic LOC101927770 chr20 52185814 52185814 C A het . 7 +ncRNA_intronic LOC105372672 chr20 52241217 52241217 C T het . 2 +downstream LOC105372672(dist=484) chr20 52251613 52251613 G C het . 3 +intergenic LOC105372672(dist=7400),SUMO1P1(dist=232511) chr20 52258529 52258529 A G het . 2 +intergenic LOC105372672(dist=11853),SUMO1P1(dist=228058) chr20 52262982 52262982 T A het . 1 +intergenic LOC105372672(dist=74989),SUMO1P1(dist=164922) chr20 52326118 52326118 G C het . 2 +intergenic LOC105372672(dist=110387),SUMO1P1(dist=129524) chr20 52361516 52361516 G A het . 8 +intergenic LOC105372672(dist=145968),SUMO1P1(dist=93943) chr20 52397097 52397097 A G het . 2 +intergenic LOC105372672(dist=162016),SUMO1P1(dist=77895) chr20 52413145 52413145 G C het . 2 +intergenic LOC105372672(dist=175750),SUMO1P1(dist=64161) chr20 52426879 52426879 A - het . 2 +intergenic LOC105372672(dist=175931),SUMO1P1(dist=63980) chr20 52427060 52427060 G A het . 3 +intergenic LOC105372672(dist=203826),SUMO1P1(dist=36085) chr20 52454955 52454955 C G het . 4 +intergenic LOC105372672(dist=204803),SUMO1P1(dist=35108) chr20 52455932 52455932 A G het . 3 +intergenic LOC105372672(dist=225611),SUMO1P1(dist=14300) chr20 52476740 52476740 A G het . 2 +intergenic LOC105372672(dist=225648),SUMO1P1(dist=14263) chr20 52476777 52476777 C T het . 2 +intergenic LOC105372672(dist=225991),SUMO1P1(dist=13920) chr20 52477120 52477120 G T het . 2 +intergenic LOC105372672(dist=227590),SUMO1P1(dist=12321) chr20 52478719 52478719 G T het . 3 +intergenic LOC105372672(dist=230990),SUMO1P1(dist=8921) chr20 52482119 52482119 C T het . 4 +intergenic LOC105372672(dist=233071),SUMO1P1(dist=6840) chr20 52484200 52484200 C T het . 1 +ncRNA_exonic SUMO1P1 chr20 52491761 52491761 T C het . 14 +ncRNA_exonic SUMO1P1 chr20 52491773 52491773 - A het . 11 +intergenic SUMO1P1(dist=43152),BCAS1(dist=24677) chr20 52535400 52535400 C T het . 2 +intergenic SUMO1P1(dist=44704),BCAS1(dist=23125) chr20 52536952 52536952 - T het . 2 +intergenic SUMO1P1(dist=65851),BCAS1(dist=1978) chr20 52558099 52558099 T G het . 6 +exonic BCAS1 chr20 52573971 52573971 T G het . 24 +intronic BCAS1 chr20 52592026 52592026 T C het . 13 +intronic BCAS1 chr20 52592070 52592070 G A het . 9 +intronic BCAS1 chr20 52601802 52601802 - T het . 10 +intronic BCAS1 chr20 52653434 52653434 T G het . 2 +intronic BCAS1 chr20 52653487 52653487 C A het . 2 +intronic BCAS1 chr20 52680298 52680298 A G het . 2 +intergenic BCAS1(dist=25674),CYP24A1(dist=57010) chr20 52712978 52712978 C T het . 3 +intronic CYP24A1 chr20 52773634 52773634 T C het . 2 +intronic CYP24A1 chr20 52774427 52774427 A G het . 2 +intronic CYP24A1 chr20 52774579 52774579 A G het . 10 +intronic CYP24A1 chr20 52774601 52774601 A G het . 17 +intronic CYP24A1 chr20 52774883 52774883 C T het . 3 +intronic CYP24A1 chr20 52774903 52774903 G A het . 4 +intronic CYP24A1 chr20 52775292 52775292 G A het . 8 +intronic CYP24A1 chr20 52775318 52775318 C T het . 7 +exonic CYP24A1 chr20 52775528 52775528 C T het . 29 +intronic CYP24A1 chr20 52775728 52775728 A G het . 20 +intronic CYP24A1 chr20 52775774 52775774 G A het . 11 +intronic CYP24A1 chr20 52784310 52784313 AAAT - het . 3 +intronic CYP24A1 chr20 52784321 52784321 - A het . 3 +intronic CYP24A1 chr20 52786073 52786073 T C het . 24 +exonic CYP24A1 chr20 52786219 52786219 G A het . 33 +intronic CYP24A1 chr20 52788314 52788314 T C het . 23 +intronic CYP24A1 chr20 52789743 52789743 C G het . 23 +upstream CYP24A1(dist=270) chr20 52790786 52790786 T G het . 2 +intergenic CYP24A1(dist=15760),PFDN4(dist=18226) chr20 52806276 52806276 T C het . 2 +intergenic CYP24A1(dist=32525),PFDN4(dist=1461) chr20 52823041 52823041 G A het . 2 +intergenic PFDN4(dist=2654),DOK5(dist=252865) chr20 52839146 52839146 T C het . 2 +intergenic PFDN4(dist=22646),DOK5(dist=232873) chr20 52859138 52859138 T C het . 2 +intergenic PFDN4(dist=24703),DOK5(dist=230816) chr20 52861195 52861195 A T het . 2 +intergenic PFDN4(dist=32004),DOK5(dist=223515) chr20 52868496 52868496 C T het . 2 +intergenic PFDN4(dist=32022),DOK5(dist=223497) chr20 52868514 52868514 G A het . 2 +intergenic PFDN4(dist=43320),DOK5(dist=212199) chr20 52879812 52879812 T C het . 2 +intergenic PFDN4(dist=54274),DOK5(dist=201245) chr20 52890766 52890766 A T het . 2 +intergenic PFDN4(dist=66557),DOK5(dist=188962) chr20 52903049 52903049 G A het . 2 +intergenic PFDN4(dist=72021),DOK5(dist=183498) chr20 52908513 52908513 G A het . 2 +intergenic PFDN4(dist=74621),DOK5(dist=180898) chr20 52911113 52911113 C A het . 2 +intergenic PFDN4(dist=92728),DOK5(dist=162791) chr20 52929220 52929220 T A het . 2 +intergenic PFDN4(dist=203069),DOK5(dist=52450) chr20 53039561 53039561 G A het . 3 +intergenic PFDN4(dist=227465),DOK5(dist=28054) chr20 53063957 53063957 A C het . 2 +intronic DOK5 chr20 53258063 53258063 A G het . 6 +intronic DOK5 chr20 53258193 53258193 T C het . 4 +intronic DOK5 chr20 53259964 53259964 G C het . 9 +intronic DOK5 chr20 53266780 53266780 C T het . 7 +intergenic DOK5(dist=26169),LINC01441(dist=742995) chr20 53293879 53293879 A G het . 4 +intergenic DOK5(dist=29028),LINC01441(dist=740136) chr20 53296738 53296738 C T het . 2 +intergenic DOK5(dist=57207),LINC01441(dist=711957) chr20 53324917 53324917 - AAAT het . 2 +intergenic DOK5(dist=59190),LINC01441(dist=709974) chr20 53326900 53326900 A T het . 3 +intergenic DOK5(dist=156410),LINC01441(dist=612754) chr20 53424120 53424120 G A het . 2 +intergenic DOK5(dist=162096),LINC01441(dist=607068) chr20 53429806 53429806 C T het . 2 +intergenic DOK5(dist=163334),LINC01441(dist=605830) chr20 53431044 53431044 C T het . 3 +intergenic DOK5(dist=165528),LINC01441(dist=603636) chr20 53433238 53433238 T G het . 2 +intergenic DOK5(dist=165555),LINC01441(dist=603609) chr20 53433265 53433265 C T het . 2 +intergenic DOK5(dist=169897),LINC01441(dist=599267) chr20 53437607 53437607 A G het . 3 +intergenic DOK5(dist=172484),LINC01441(dist=596680) chr20 53440194 53440194 G A het . 3 +intergenic DOK5(dist=215822),LINC01441(dist=553342) chr20 53483532 53483532 A T het . 2 +intergenic DOK5(dist=220766),LINC01441(dist=548398) chr20 53488476 53488476 A T het . 2 +intergenic DOK5(dist=229588),LINC01441(dist=539576) chr20 53497298 53497298 C T het . 4 +intergenic DOK5(dist=248869),LINC01441(dist=520295) chr20 53516579 53516579 T G het . 2 +intergenic DOK5(dist=254009),LINC01441(dist=515155) chr20 53521719 53521719 C T het . 2 +intergenic DOK5(dist=375702),LINC01441(dist=393462) chr20 53643412 53643412 G A het . 2 +intergenic DOK5(dist=375715),LINC01441(dist=393449) chr20 53643425 53643425 G A het . 1 +intergenic DOK5(dist=379816),LINC01441(dist=389348) chr20 53647526 53647526 T G het . 2 +intergenic DOK5(dist=421011),LINC01441(dist=348153) chr20 53688721 53688721 G A het . 1 +intergenic DOK5(dist=423396),LINC01441(dist=345768) chr20 53691106 53691106 G C het . 6 +intergenic DOK5(dist=430206),LINC01441(dist=338958) chr20 53697916 53697916 C G het . 2 +intergenic DOK5(dist=440963),LINC01441(dist=328201) chr20 53708673 53708673 C T het . 1 +intergenic DOK5(dist=511157),LINC01441(dist=258007) chr20 53778867 53778867 C T het . 2 +intergenic DOK5(dist=511170),LINC01441(dist=257994) chr20 53778880 53778880 C T het . 2 +intergenic DOK5(dist=546010),LINC01441(dist=223154) chr20 53813720 53813720 A T het . 3 +intergenic DOK5(dist=547323),LINC01441(dist=221841) chr20 53815033 53815033 G A het . 2 +intergenic DOK5(dist=558430),LINC01441(dist=210734) chr20 53826140 53826140 A C het . 3 +intergenic DOK5(dist=575540),LINC01441(dist=193624) chr20 53843250 53843250 C T het . 2 +intergenic DOK5(dist=576733),LINC01441(dist=192431) chr20 53844443 53844443 C G het . 2 +intergenic DOK5(dist=583343),LINC01441(dist=185821) chr20 53851053 53851053 T A het . 1 +intergenic DOK5(dist=583345),LINC01441(dist=185819) chr20 53851055 53851055 T A het . 1 +intergenic DOK5(dist=583347),LINC01441(dist=185817) chr20 53851057 53851057 T A het . 1 +intergenic DOK5(dist=583349),LINC01441(dist=185815) chr20 53851059 53851059 G T het . 1 +intergenic LINC01441(dist=38252),CBLN4(dist=490426) chr20 54081987 54081987 A G het . 2 +intergenic LINC01441(dist=38257),CBLN4(dist=490421) chr20 54081992 54081992 T C het . 2 +intergenic LINC01441(dist=52988),CBLN4(dist=475690) chr20 54096723 54096723 G A het . 2 +intergenic LINC01441(dist=60239),CBLN4(dist=468439) chr20 54103974 54103974 T C het . 4 +intergenic LINC01441(dist=62951),CBLN4(dist=465727) chr20 54106686 54106686 G A het . 2 +intergenic LINC01441(dist=69582),CBLN4(dist=459096) chr20 54113317 54113317 T - het . 2 +intergenic LINC01441(dist=75234),CBLN4(dist=453444) chr20 54118969 54118969 C T het . 3 +intergenic LINC01441(dist=75250),CBLN4(dist=453428) chr20 54118985 54118985 C T het . 2 +intergenic LINC01441(dist=92946),CBLN4(dist=435732) chr20 54136681 54136681 C G het . 2 +intergenic LINC01441(dist=92964),CBLN4(dist=435714) chr20 54136699 54136699 C A het . 2 +intergenic LINC01441(dist=116677),CBLN4(dist=412001) chr20 54160412 54160412 T C het . 2 +intergenic LINC01441(dist=168225),CBLN4(dist=360453) chr20 54211960 54211960 C A het . 2 +intergenic LINC01441(dist=220517),CBLN4(dist=308161) chr20 54264252 54264252 - G het . 2 +intergenic LINC01441(dist=220542),CBLN4(dist=308136) chr20 54264277 54264277 - C het . 2 +intergenic LINC01441(dist=234342),CBLN4(dist=294336) chr20 54278077 54278077 T C het . 2 +intergenic LINC01441(dist=359436),CBLN4(dist=169242) chr20 54403171 54403171 C A het . 2 +intergenic LINC01441(dist=365327),CBLN4(dist=163351) chr20 54409062 54409062 C A het . 3 +intergenic LINC01441(dist=399671),CBLN4(dist=129007) chr20 54443406 54443406 C T het . 4 +intergenic LINC01441(dist=402251),CBLN4(dist=126427) chr20 54445986 54445986 A G het . 2 +intergenic LINC01441(dist=403742),CBLN4(dist=124936) chr20 54447477 54447477 C T het . 2 +intergenic LINC01441(dist=445069),CBLN4(dist=83609) chr20 54488804 54488804 A G het . 2 +intergenic LINC01441(dist=520765),CBLN4(dist=7913) chr20 54564500 54564500 C T het . 2 +intergenic CBLN4(dist=154241),MC3R(dist=89019) chr20 54734769 54734769 T C het . 2 +intergenic CBLN4(dist=166975),MC3R(dist=76285) chr20 54747503 54747503 A C het . 3 +intergenic CBLN4(dist=222004),MC3R(dist=21256) chr20 54802532 54802532 T C het . 2 +intergenic CBLN4(dist=228934),MC3R(dist=14326) chr20 54809462 54809462 G A het . 3 +intergenic CBLN4(dist=241074),MC3R(dist=2186) chr20 54821602 54821602 G A het . 2 +upstream MC3R(dist=9) chr20 54823779 54823779 G T het . 24 +intergenic MC3R(dist=21789),FAM210B(dist=87323) chr20 54846660 54846660 C A het . 2 +intergenic MC3R(dist=21814),FAM210B(dist=87298) chr20 54846685 54846685 - A het . 2 +intergenic MC3R(dist=21843),FAM210B(dist=87269) chr20 54846714 54846714 A C het . 2 +intergenic MC3R(dist=23150),FAM210B(dist=85962) chr20 54848021 54848021 T C het . 2 +intergenic MC3R(dist=47988),FAM210B(dist=61124) chr20 54872859 54872859 C T het . 2 +intergenic MC3R(dist=67624),FAM210B(dist=41488) chr20 54892495 54892495 G A het . 3 +intronic AURKA chr20 54945783 54945783 A G het . 9 +intronic AURKA chr20 54956707 54956707 A G het . 7 +intronic AURKA chr20 54959296 54959296 G C het . 25 +exonic AURKA chr20 54961463 54961463 T C het . 33 +exonic AURKA chr20 54961541 54961541 A T het . 34 +intronic CSTF1 chr20 54969377 54969377 C T het . 1 +intronic CSTF1 chr20 54974424 54974424 C A het . 10 +intronic CSTF1 chr20 54977598 54977598 C T het . 2 +exonic CASS4 chr20 55028167 55028167 G A het . 11 +intronic CASS4 chr20 55029758 55029758 T C het . 2 +exonic CASS4 chr20 55033476 55033476 C G het . 17 +exonic CASS4 chr20 55033635 55033635 C T het . 10 +exonic CASS4 chr20 55033647 55033647 T C het . 12 +exonic CASS4 chr20 55033713 55033713 G A het . 15 +intergenic CASS4(dist=5258),RTF2(dist=3987) chr20 55039654 55039654 C T het . 2 +intergenic CASS4(dist=6380),RTF2(dist=2865) chr20 55040776 55040776 T - het . 2 +intronic RTF2 chr20 55045632 55045632 G A het . 19 +intronic RTF2 chr20 55045843 55045843 T C het . 3 +intronic RTF2 chr20 55047632 55047632 - A het . 2 +intronic RTF2 chr20 55048283 55048283 A G het . 14 +intronic RTF2 chr20 55048496 55048496 - GAG het . 10 +intronic RTF2 chr20 55049908 55049908 A G het . 3 +intronic GCNT7,RTF2 chr20 55067481 55067481 G A het . 2 +exonic GCNT7 chr20 55070268 55070268 A T het . 16 +intronic GCNT7,RTF2 chr20 55070539 55070539 G C het . 4 +exonic GCNT7 chr20 55072472 55072472 A G het . 34 +intronic GCNT7,RTF2 chr20 55085062 55085062 A G het . 2 +exonic RTF2 chr20 55088404 55088404 A G het . 18 +exonic FAM209B chr20 55108617 55108617 C A het . 12 +exonic FAM209B chr20 55111371 55111371 G A het . 17 +intergenic FAM209B(dist=5163),LINC01716(dist=35882) chr20 55116737 55116737 C T het . 2 +intergenic FAM209B(dist=12508),LINC01716(dist=28537) chr20 55124082 55124082 C T het . 2 +intergenic FAM209B(dist=19808),LINC01716(dist=21237) chr20 55131382 55131382 T C het . 2 +exonic TFAP2C chr20 55209257 55209257 T C het . 18 +intergenic TFAP2C(dist=51669),BMP7(dist=477802) chr20 55266007 55266007 C T het . 2 +intergenic TFAP2C(dist=53141),BMP7(dist=476330) chr20 55267479 55267479 A C het . 2 +intergenic TFAP2C(dist=62220),BMP7(dist=467251) chr20 55276558 55276558 C T het . 2 +intergenic TFAP2C(dist=74180),BMP7(dist=455291) chr20 55288518 55288518 C A het . 3 +intergenic TFAP2C(dist=78500),BMP7(dist=450971) chr20 55292838 55292838 A G het . 2 +intergenic TFAP2C(dist=89026),BMP7(dist=440445) chr20 55303364 55303364 G A het . 3 +intergenic TFAP2C(dist=99268),BMP7(dist=430203) chr20 55313606 55313606 C T het . 2 +intergenic TFAP2C(dist=139211),BMP7(dist=390260) chr20 55353549 55353549 A G het . 2 +intergenic TFAP2C(dist=233780),BMP7(dist=295680) chr20 55448118 55448129 AAAGAAAGAAGG - het . 2 +intergenic TFAP2C(dist=237382),BMP7(dist=292089) chr20 55451720 55451720 T A het . 2 +intergenic TFAP2C(dist=280463),BMP7(dist=249008) chr20 55494801 55494801 A G het . 3 +intergenic TFAP2C(dist=280522),BMP7(dist=248949) chr20 55494860 55494860 G C het . 3 +intergenic TFAP2C(dist=304938),BMP7(dist=224533) chr20 55519276 55519276 T C het . 2 +intergenic TFAP2C(dist=317142),BMP7(dist=212329) chr20 55531480 55531480 A C het . 2 +intergenic TFAP2C(dist=317165),BMP7(dist=212306) chr20 55531503 55531503 - G het . 1 +intergenic TFAP2C(dist=499797),BMP7(dist=29674) chr20 55714135 55714135 G T het . 2 +intergenic TFAP2C(dist=499819),BMP7(dist=29652) chr20 55714157 55714157 C T het . 2 +intronic BMP7 chr20 55748206 55748206 G A het . 15 +intronic BMP7 chr20 55750204 55750204 G T het . 5 +intronic BMP7 chr20 55757974 55757974 C T het . 2 +intronic BMP7 chr20 55758446 55758446 C - het . 1 +intronic BMP7 chr20 55758470 55758470 C T het . 2 +intronic BMP7 chr20 55758482 55758482 T - het . 2 +intronic BMP7 chr20 55758655 55758655 A G het . 6 +intronic BMP7 chr20 55775791 55775791 T C het . 2 +intronic BMP7 chr20 55800721 55800721 G C het . 1 +intronic BMP7 chr20 55800937 55800937 C T het . 14 +intergenic BMP7(dist=2029),MIR4325(dist=52822) chr20 55843736 55843736 A G het . 2 +intergenic BMP7(dist=43497),MIR4325(dist=11354) chr20 55885204 55885204 T C het . 2 +intronic SPO11 chr20 55911119 55911119 C G het . 2 +intronic SPO11 chr20 55918014 55918014 A G het . 7 +intronic RAE1 chr20 55929881 55929881 T C het . 7 +exonic RAE1 chr20 55931594 55931594 C T het . 11 +intronic RAE1 chr20 55949980 55949980 G A het . 20 +ncRNA_intronic LOC100291105 chr20 55966904 55966904 C T het . 9 +intronic RBM38 chr20 55975099 55975099 T A het . 13 +intronic RBM38 chr20 55982579 55982579 T C het . 2 +intergenic RBM38(dist=3697),CTCFL(dist=82938) chr20 55988083 55988083 T C het . 2 +intergenic RBM38(dist=8955),CTCFL(dist=77680) chr20 55993341 55993341 A G het . 2 +intergenic RBM38(dist=8961),CTCFL(dist=77674) chr20 55993347 55993347 A G het . 2 +intergenic RBM38(dist=8984),CTCFL(dist=77651) chr20 55993370 55993370 G A het . 2 +intergenic RBM38(dist=23273),CTCFL(dist=63362) chr20 56007659 56007659 A G het . 2 +intergenic RBM38(dist=79771),CTCFL(dist=6864) chr20 56064157 56064157 C T het . 2 +downstream CTCFL(dist=516) chr20 56070505 56070505 A G het . 2 +exonic CTCFL chr20 56071399 56071399 C T het . 12 +intronic CTCFL chr20 56078690 56078690 G A het . 10 +intronic CTCFL chr20 56079274 56079274 T C het . 2 +exonic CTCFL chr20 56099114 56099114 C G het . 13 +UTR5 CTCFL(NM_001269041:c.-44C>T,NM_001269044:c.-44C>T,NM_001269048:c.-44C>T,NM_001269052:c.-44C>T) chr20 56099305 56099305 G A het . 7 +exonic PCK1 chr20 56136536 56136536 A G het . 8 +exonic PCK1 chr20 56137798 56137798 G A het . 17 +exonic PCK1 chr20 56137807 56137807 A G het . 19 +exonic PCK1 chr20 56137834 56137834 A G het . 16 +exonic PCK1 chr20 56137895 56137895 G C het . 14 +intronic PCK1 chr20 56138040 56138040 G C het . 6 +exonic PCK1 chr20 56139403 56139403 T C het . 32 +intronic PCK1 chr20 56139967 56139967 C T het . 2 +UTR3 ZBP1(NM_001160418:c.*207G>T,NM_030776:c.*207G>T,NM_001160417:c.*207G>T) chr20 56179422 56179422 C A het . 10 +UTR3 ZBP1(NM_001160418:c.*43C>T,NM_030776:c.*43C>T,NM_001160417:c.*43C>T) chr20 56179586 56179586 G A het . 2 +intronic ZBP1 chr20 56181949 56181949 A G het . 1 +intronic ZBP1 chr20 56182296 56182296 A C het . 12 +exonic ZBP1 chr20 56186884 56186884 T C het . 8 +exonic ZBP1 chr20 56190634 56190634 C T het . 4 +exonic PMEPA1 chr20 56227532 56227532 T C het . 6 +intronic PMEPA1 chr20 56228026 56228026 C A het . 3 +intronic PMEPA1 chr20 56228151 56228151 G A het . 15 +intronic PMEPA1 chr20 56234776 56234776 G A het . 7 +intronic PMEPA1 chr20 56270586 56270586 C T het . 2 +ncRNA_exonic NKILA chr20 56287219 56287219 A G het . 2 +intergenic NKILA(dist=2855),LINC01742(dist=288269) chr20 56290691 56290691 A G het . 2 +intergenic NKILA(dist=42534),LINC01742(dist=248590) chr20 56330370 56330370 C T het . 2 +intergenic NKILA(dist=61964),LINC01742(dist=229160) chr20 56349800 56349800 G C het . 2 +intergenic NKILA(dist=64434),LINC01742(dist=226687) chr20 56352270 56352273 ACTT - het . 2 +intergenic NKILA(dist=102832),LINC01742(dist=188292) chr20 56390668 56390668 C T het . 2 +intergenic NKILA(dist=176099),LINC01742(dist=115025) chr20 56463935 56463935 G C het . 2 +intergenic NKILA(dist=176104),LINC01742(dist=115020) chr20 56463940 56463940 G T het . 2 +intergenic NKILA(dist=194313),LINC01742(dist=96811) chr20 56482149 56482149 C T het . 2 +intergenic NKILA(dist=231823),LINC01742(dist=59298) chr20 56519659 56519662 TTTC - het . 2 +intergenic NKILA(dist=249297),LINC01742(dist=41827) chr20 56537133 56537133 C T het . 3 +intergenic LINC01742(dist=13077),C20orf85(dist=133202) chr20 56592781 56592781 T C het . 3 +intergenic LINC01742(dist=25626),C20orf85(dist=120653) chr20 56605330 56605330 A G het . 2 +intergenic LINC01742(dist=29557),C20orf85(dist=116722) chr20 56609261 56609261 - A het . 3 +intronic C20orf85 chr20 56726107 56726107 C T het . 7 +intergenic C20orf85(dist=11943),ANKRD60(dist=43056) chr20 56748126 56748126 A T het . 1 +intergenic C20orf85(dist=34735),ANKRD60(dist=20264) chr20 56770918 56770918 A - het . 2 +intergenic C20orf85(dist=38938),ANKRD60(dist=16061) chr20 56775121 56775121 T C het . 2 +intergenic C20orf85(dist=38948),ANKRD60(dist=16051) chr20 56775131 56775131 T C het . 2 +UTR3 ANKRD60(NM_001304369:c.*5T>C) chr20 56793546 56793546 A G het . 3 +exonic ANKRD60 chr20 56793706 56793706 G A het . 9 +exonic ANKRD60 chr20 56793764 56793764 G A het . 4 +exonic ANKRD60 chr20 56803353 56803353 C T het . 22 +exonic ANKRD60 chr20 56803501 56803501 C T het . 14 +ncRNA_exonic PPP4R1L chr20 56807969 56807969 A G het . 20 +ncRNA_intronic PPP4R1L chr20 56810446 56810446 A G het . 13 +ncRNA_intronic PPP4R1L chr20 56810484 56810484 C T het . 12 +ncRNA_intronic PPP4R1L chr20 56811400 56811400 C A het . 4 +ncRNA_intronic PPP4R1L chr20 56813472 56813472 G C het . 9 +ncRNA_intronic PPP4R1L chr20 56814195 56814195 - C het . 7 +ncRNA_exonic PPP4R1L chr20 56814892 56814892 G T het . 5 +ncRNA_exonic PPP4R1L chr20 56820880 56820880 C T het . 19 +ncRNA_exonic PPP4R1L chr20 56821127 56821127 A G het . 19 +ncRNA_intronic PPP4R1L chr20 56822236 56822236 C A het . 2 +ncRNA_exonic PPP4R1L chr20 56822536 56822536 G A het . 7 +ncRNA_intronic PPP4R1L chr20 56825826 56825826 A C het . 21 +ncRNA_intronic PPP4R1L chr20 56826934 56826934 T A het . 18 +ncRNA_intronic PPP4R1L chr20 56846580 56846580 T A het . 4 +ncRNA_intronic PPP4R1L chr20 56856372 56856372 A - het . 3 +ncRNA_intronic PPP4R1L chr20 56884186 56884186 T G het . 2 +intronic RAB22A chr20 56886062 56886062 A G het . 6 +intronic RAB22A chr20 56918598 56918598 G A het . 2 +intronic RAB22A chr20 56928207 56928207 G C het . 4 +intronic VAPB chr20 56971603 56971603 C T het . 2 +intronic VAPB chr20 57006458 57006458 A G het . 2 +intronic VAPB chr20 57008291 57008291 T G het . 1 +intronic VAPB chr20 57009796 57009796 C T het . 21 +intronic VAPB chr20 57009899 57009899 A G het . 9 +intronic VAPB chr20 57013873 57013873 G A het . 23 +UTR3 VAPB(NM_001195677:c.*221C>A,NM_004738:c.*151C>A) chr20 57019442 57019442 C A het . 25 +UTR3 VAPB(NM_001195677:c.*1159C>A,NM_004738:c.*1089C>A) chr20 57020380 57020380 C A het . 19 +UTR3 VAPB(NM_001195677:c.*1352A>G,NM_004738:c.*1282A>G) chr20 57020573 57020573 A G het . 28 +UTR3 VAPB(NM_001195677:c.*1520_*1537delTGTGTGTGTGTGTGTGTG,NM_004738:c.*1450_*1467delTGTGTGTGTGTGTGTGTG) chr20 57020741 57020758 TGTGTGTGTGTGTGTGTG - het . 19 +UTR3 VAPB(NM_001195677:c.*3492_*3499delTGTGTGCA,NM_004738:c.*3422_*3429delTGTGTGCA) chr20 57022713 57022720 TGTGTGCA - het . 17 +UTR3 VAPB(NM_001195677:c.*5320T>C,NM_004738:c.*5250T>C) chr20 57024541 57024541 T C het . 28 +UTR3 VAPB(NM_001195677:c.*5368C>T,NM_004738:c.*5298C>T) chr20 57024589 57024589 C T het . 38 +ncRNA_intronic APCDD1L-DT chr20 57103187 57103187 C A het . 2 +intergenic LINC01711(dist=9241),STX16(dist=6274) chr20 57220035 57220035 A - het . 2 +ncRNA_intronic STX16-NPEPL1 chr20 57245425 57245425 G A het . 2 +intergenic STX16-NPEPL1(dist=26031),LOC105372695(dist=31550) chr20 57316931 57316931 C T het . 2 +intergenic STX16-NPEPL1(dist=26928),LOC105372695(dist=30653) chr20 57317828 57317828 G C het . 2 +intergenic LOC105372695(dist=23473),MIR296(dist=19330) chr20 57373340 57373340 C T het . 2 +intergenic LOC105372695(dist=24781),MIR296(dist=18022) chr20 57374648 57374648 A G het . 3 +ncRNA_intronic GNAS-AS1 chr20 57415110 57415110 A G het . 12 +ncRNA_intronic GNAS-AS1 chr20 57415995 57415995 A G het . 6 +exonic GNAS chr20 57429157 57429157 C A het . 34 +UTR5 GNAS(NM_001309840:c.-6428_-6427insCGGCG) chr20 57464277 57464277 - CGGCG het . 12 +intronic GNAS chr20 57474721 57474722 CA - het . 7 +UTR3 GNAS(NM_001309883:c.*464A>G,NM_001309842:c.*181A>G) chr20 57475191 57475191 A G het . 2 +intronic GNAS chr20 57478448 57478448 A T het . 7 +intronic GNAS chr20 57485611 57485611 T C het . 11 +intergenic GNAS(dist=1197),NELFCD(dist=68815) chr20 57487448 57487448 T G het . 2 +intergenic GNAS(dist=27946),NELFCD(dist=42066) chr20 57514197 57514197 G A het . 2 +intergenic GNAS(dist=38159),NELFCD(dist=31853) chr20 57524410 57524410 T C het . 12 +intergenic GNAS(dist=58023),NELFCD(dist=11989) chr20 57544274 57544274 C A het . 2 +intergenic GNAS(dist=58831),NELFCD(dist=11181) chr20 57545082 57545082 A T het . 2 +intronic NELFCD chr20 57565943 57565943 G C het . 3 +intronic NELFCD chr20 57566637 57566637 C T het . 4 +UTR3 NELFCD(NM_198976:c.*85G>T) chr20 57569816 57569816 G T het . 7 +intronic CTSZ chr20 57570854 57570854 G A het . 2 +exonic CTSZ chr20 57571763 57571763 A G het . 13 +exonic CTSZ chr20 57572675 57572675 A G het . 6 +exonic TUBB1 chr20 57599016 57599016 T G het . 17 +ncRNA_intronic SLMO2-ATP5E chr20 57607192 57607192 C A het . 13 +exonic PRELID3B chr20 57610181 57610181 C A het . 19 +intergenic SLMO2-ATP5E(dist=79088),ZNF831(dist=69086) chr20 57696989 57696989 G A het . 2 +intergenic SLMO2-ATP5E(dist=97646),ZNF831(dist=50528) chr20 57715547 57715547 - ATTTA het . 2 +intergenic SLMO2-ATP5E(dist=127053),ZNF831(dist=21121) chr20 57744954 57744954 - A het . 2 +intergenic SLMO2-ATP5E(dist=131888),ZNF831(dist=16286) chr20 57749789 57749789 A - het . 2 +intergenic SLMO2-ATP5E(dist=146397),ZNF831(dist=1777) chr20 57764298 57764298 G A het . 2 +exonic ZNF831 chr20 57767043 57767043 G C het . 9 +exonic ZNF831 chr20 57767727 57767727 T A het . 5 +exonic ZNF831 chr20 57768399 57768399 T C het . 4 +exonic ZNF831 chr20 57768743 57768743 C T het . 10 +intronic ZNF831 chr20 57769854 57769854 A G het . 2 +intronic ZNF831 chr20 57774987 57774987 C T het . 2 +intronic ZNF831 chr20 57783254 57783254 G A het . 2 +exonic ZNF831 chr20 57829301 57829301 T C het . 28 +UTR3 ZNF831(NM_178457:c.*23_*24insTT) chr20 57829821 57829821 - TT het . 9 +intergenic ZNF831(dist=18786),EDN3(dist=22529) chr20 57852953 57852953 G A het . 7 +intergenic EDN3(dist=53723),PHACTR3(dist=197794) chr20 57954770 57954770 T C het . 3 +intergenic EDN3(dist=114529),PHACTR3(dist=136988) chr20 58015576 58015576 C A het . 2 +intergenic EDN3(dist=213120),PHACTR3(dist=38397) chr20 58114167 58114167 T C het . 3 +intronic PHACTR3 chr20 58194047 58194047 G A het . 2 +intronic PHACTR3 chr20 58217371 58217371 T - het . 2 +intronic PHACTR3 chr20 58243926 58243930 TTTTA - het . 3 +intronic PHACTR3 chr20 58315721 58315722 TT - het . 2 +intronic PHACTR3 chr20 58333055 58333055 A T het . 3 +intronic PHACTR3 chr20 58342130 58342130 T A het . 3 +intronic PHACTR3 chr20 58347642 58347642 C G het . 2 +intronic PHACTR3 chr20 58407333 58407333 G A het . 1 +intronic PHACTR3 chr20 58411441 58411441 T C het . 3 +intronic PHACTR3 chr20 58420336 58420336 G A het . 17 +intergenic PHACTR3(dist=2647),SYCP2(dist=13199) chr20 58425413 58425413 C T het . 9 +intergenic PHACTR3(dist=2922),SYCP2(dist=12924) chr20 58425688 58425688 T C het . 7 +intronic SYCP2 chr20 58441502 58441502 G T het . 23 +intronic SYCP2 chr20 58443001 58443001 C A het . 15 +exonic SYCP2 chr20 58452566 58452566 C T het . 28 +intronic SYCP2 chr20 58452669 58452669 A T het . 15 +exonic SYCP2 chr20 58455447 58455447 A G het . 19 +intronic SYCP2 chr20 58456877 58456877 T C het . 5 +intronic SYCP2 chr20 58467867 58467867 T A het . 7 +exonic SYCP2 chr20 58475307 58475307 G A het . 23 +exonic SYCP2 chr20 58476774 58476774 G A het . 12 +intronic SYCP2 chr20 58486951 58486951 C T het . 11 +intronic SYCP2 chr20 58488979 58488979 T C het . 13 +intronic SYCP2 chr20 58496883 58496883 G T het . 2 +UTR5 SYCP2(NM_014258:c.-14_-15delTT) chr20 58497482 58497483 AA - het . 9 +exonic FAM217B chr20 58519474 58519474 C A het . 15 +UTR5 CDH26(NM_177980:c.-69C>T) chr20 58533713 58533713 C T het . 5 +UTR5 CDH26(NM_177980:c.-38T>G) chr20 58533744 58533744 T G het . 6 +intronic CDH26 chr20 58567311 58567311 T C het . 11 +intronic CDH26 chr20 58569563 58569563 T C het . 8 +intronic CDH26 chr20 58571864 58571864 A G het . 4 +exonic CDH26 chr20 58576432 58576432 A G het . 14 +intronic CDH26 chr20 58581863 58581863 G C het . 7 +UTR5 C20orf197(NM_001302815:c.-35T>C,NM_001302813:c.-35T>C,NM_173644:c.-35T>C) chr20 58644995 58644995 T C het . 6 +intergenic C20orf197(dist=1305),LOC729296(dist=13428) chr20 58649313 58649313 T C het . 4 +ncRNA_intronic LOC729296 chr20 58664103 58664103 T C het . 2 +ncRNA_intronic MIR646HG chr20 58729605 58729605 C T het . 2 +ncRNA_intronic MIR646HG chr20 58812393 58812393 G A het . 2 +ncRNA_intronic MIR646HG chr20 58870155 58870155 T C het . 2 +ncRNA_intronic MIR646HG chr20 58872237 58872237 G A het . 2 +ncRNA_intronic MIR646HG chr20 58882505 58882505 T C het . 3 +ncRNA_intronic MIR646HG chr20 58882525 58882525 G T het . 4 +ncRNA_intronic MIR646HG chr20 58883399 58883399 - T het . 3 +ncRNA_intronic MIR646HG chr20 58883516 58883516 A G het . 12 +ncRNA_exonic MIR646 chr20 58883534 58883534 T C het . 12 +ncRNA_intronic MIR646HG chr20 58885580 58885580 G A het . 1 +downstream MIR646HG(dist=895) chr20 58898209 58898209 T C het . 2 +intergenic MIR646HG(dist=8577),LOC101928048(dist=138776) chr20 58905891 58905891 G A het . 2 +intergenic MIR646HG(dist=129286),LOC101928048(dist=18067) chr20 59026600 59026600 A G het . 1 +intergenic MIR4533(dist=21231),MIR548AG2(dist=65150) chr20 59074470 59074470 C A het . 2 +intergenic MIR548AG2(dist=10772),LINC01718(dist=503665) chr20 59150455 59150455 A T het . 2 +intergenic MIR548AG2(dist=33647),LINC01718(dist=480790) chr20 59173330 59173330 G A het . 2 +intergenic MIR548AG2(dist=118188),LINC01718(dist=396249) chr20 59257871 59257871 C T het . 2 +intergenic MIR548AG2(dist=119000),LINC01718(dist=395437) chr20 59258683 59258683 A G het . 2 +intergenic MIR548AG2(dist=137408),LINC01718(dist=377029) chr20 59277091 59277091 C T het . 2 +intergenic MIR548AG2(dist=145831),LINC01718(dist=368606) chr20 59285514 59285514 C A het . 3 +intergenic MIR548AG2(dist=145880),LINC01718(dist=368557) chr20 59285563 59285563 G A het . 4 +intergenic MIR548AG2(dist=156540),LINC01718(dist=357897) chr20 59296223 59296223 A G het . 2 +intergenic MIR548AG2(dist=160051),LINC01718(dist=354386) chr20 59299734 59299734 T C het . 3 +intergenic MIR548AG2(dist=221341),LINC01718(dist=293096) chr20 59361024 59361024 G C het . 2 +intergenic MIR548AG2(dist=240429),LINC01718(dist=274008) chr20 59380112 59380112 C T het . 1 +intergenic MIR548AG2(dist=262143),LINC01718(dist=252294) chr20 59401826 59401826 A C het . 2 +intergenic MIR548AG2(dist=407403),LINC01718(dist=107034) chr20 59547086 59547086 T A het . 2 +intergenic MIR548AG2(dist=434786),LINC01718(dist=79650) chr20 59574469 59574470 TT - het . 1 +intergenic LINC01718(dist=41163),CDH4(dist=131084) chr20 59696398 59696398 A C het . 2 +intergenic LINC01718(dist=89174),CDH4(dist=83073) chr20 59744409 59744409 A G het . 2 +intergenic LINC01718(dist=144825),CDH4(dist=27422) chr20 59800060 59800060 G A het . 2 +intergenic LINC01718(dist=144874),CDH4(dist=27373) chr20 59800109 59800109 A C het . 1 +intronic CDH4 chr20 59829847 59829847 C T het . 4 +intronic CDH4 chr20 59890537 59890537 G A het . 2 +intronic CDH4 chr20 59895563 59895563 T G het . 2 +intronic CDH4 chr20 59908962 59908962 A G het . 2 +intronic CDH4 chr20 59918740 59918740 T A het . 3 +intronic CDH4 chr20 59944088 59944088 T A het . 2 +intronic CDH4 chr20 59974132 59974132 T C het . 3 +intronic CDH4 chr20 59981084 59981084 T C het . 2 +intronic CDH4 chr20 60022160 60022160 T C het . 4 +intronic CDH4 chr20 60145619 60145619 T - het . 3 +intronic CDH4 chr20 60145672 60145672 T G het . 12 +intronic CDH4 chr20 60145710 60145710 A G het . 18 +intronic CDH4 chr20 60145887 60145887 T G het . 23 +intronic CDH4 chr20 60168573 60168573 A G het . 2 +intronic CDH4 chr20 60171400 60171400 A G het . 2 +intronic CDH4 chr20 60187190 60187190 C T het . 1 +intronic CDH4 chr20 60188849 60188849 A G het . 2 +intronic CDH4 chr20 60248694 60248694 T C het . 2 +intronic CDH4 chr20 60268854 60268854 C T het . 5 +intronic CDH4 chr20 60276394 60276394 A G het . 3 +intronic CDH4 chr20 60286290 60286290 G A het . 2 +intronic CDH4 chr20 60286295 60286295 T C het . 2 +intronic CDH4 chr20 60288868 60288868 T C het . 1 +ncRNA_exonic LOC100128310 chr20 60293919 60293919 C A het . 20 +ncRNA_exonic LOC100128310 chr20 60294246 60294246 - T het . 11 +intronic CDH4 chr20 60302727 60302727 G C het . 2 +intronic CDH4 chr20 60349433 60349433 G A het . 2 +intronic CDH4 chr20 60349463 60349463 C T het . 2 +exonic CDH4 chr20 60419750 60419750 C T het . 6 +intronic CDH4 chr20 60451598 60451598 T C het . 3 +intronic CDH4 chr20 60451604 60451604 T C het . 3 +intronic CDH4 chr20 60478177 60478177 T C het . 2 +exonic CDH4 chr20 60485627 60485627 C T het . 15 +intergenic MIR1257(dist=16291),TAF4(dist=4845) chr20 60545009 60545009 C T het . 2 +intronic TAF4 chr20 60559925 60559925 G A het . 2 +intronic TAF4 chr20 60561671 60561671 T C het . 2 +intronic TAF4 chr20 60564086 60564086 G C het . 1 +exonic TAF4 chr20 60572663 60572663 C A het . 13 +intronic TAF4 chr20 60573983 60573983 A G het . 9 +intronic TAF4 chr20 60574216 60574216 C T het . 5 +intronic TAF4 chr20 60582540 60582540 T A het . 2 +intronic TAF4 chr20 60584328 60584328 T A het . 14 +intronic TAF4 chr20 60598824 60598827 AAAG - het . 2 +intronic TAF4 chr20 60598913 60598913 C T het . 3 +intergenic TAF4(dist=11005),LSM14B(dist=45646) chr20 60651871 60651871 G T het . 2 +intergenic TAF4(dist=23119),LSM14B(dist=33532) chr20 60663985 60663985 A G het . 2 +intergenic TAF4(dist=28763),LSM14B(dist=27888) chr20 60669629 60669629 G A het . 2 +intergenic TAF4(dist=35075),LSM14B(dist=21576) chr20 60675941 60675941 - T het . 3 +intergenic TAF4(dist=35101),LSM14B(dist=21550) chr20 60675967 60675967 T A het . 3 +intergenic TAF4(dist=41352),LSM14B(dist=15299) chr20 60682218 60682218 C T het . 2 +intergenic TAF4(dist=44270),LSM14B(dist=12381) chr20 60685136 60685136 C T het . 2 +intergenic TAF4(dist=49342),LSM14B(dist=7309) chr20 60690208 60690208 A G het . 3 +intronic LSM14B chr20 60704117 60704117 A G het . 12 +downstream PSMA7(dist=10) chr20 60711773 60711773 - A het . 9 +intronic PSMA7 chr20 60712175 60712180 AGCAGT - het . 6 +intronic PSMA7 chr20 60712347 60712347 G A het . 5 +intronic PSMA7 chr20 60712511 60712511 A G het . 13 +exonic PSMA7 chr20 60713311 60713311 G A het . 7 +exonic PSMA7 chr20 60713332 60713332 A G het . 6 +intronic PSMA7 chr20 60715677 60715677 - TC het . 2 +intronic SS18L1 chr20 60720374 60720374 - G het . 2 +intronic SS18L1 chr20 60730045 60730045 C T het . 2 +intronic MTG2 chr20 60773684 60773684 C T het . 11 +intronic OSBPL2 chr20 60831300 60831300 G A het . 10 +intronic OSBPL2 chr20 60841791 60841791 T C het . 2 +intronic OSBPL2 chr20 60843695 60843695 G A het . 2 +intronic OSBPL2 chr20 60848348 60848348 C T het . 6 +intronic OSBPL2 chr20 60859381 60859381 A G het . 4 +intronic OSBPL2 chr20 60861782 60861782 A G het . 3 +intronic OSBPL2 chr20 60862906 60862906 C T het . 2 +intronic OSBPL2 chr20 60864390 60864390 C T het . 6 +intergenic OSBPL2(dist=3997),ADRM1(dist=2686) chr20 60875266 60875266 - T het . 2 +exonic ADRM1 chr20 60881330 60881330 G A het . 21 +intronic ADRM1 chr20 60881643 60881643 T C het . 2 +exonic ADRM1 chr20 60881780 60881780 T C het . 14 +intronic ADRM1 chr20 60882888 60882888 A G het . 16 +intronic LAMA5 chr20 60885142 60885142 C A het . 9 +intronic LAMA5 chr20 60885448 60885448 A G het . 4 +exonic LAMA5 chr20 60887468 60887468 G A het . 19 +exonic LAMA5 chr20 60887581 60887581 G A het . 13 +intronic LAMA5 chr20 60891912 60891912 G A het . 3 +intronic LAMA5 chr20 60892116 60892116 G A het . 3 +exonic LAMA5 chr20 60892526 60892526 A G het . 4 +intronic LAMA5 chr20 60895738 60895738 A G het . 5 +intronic LAMA5 chr20 60897071 60897071 A G het . 9 +exonic LAMA5 chr20 60897487 60897487 C T het . 4 +intronic LAMA5 chr20 60898505 60898505 C T het . 5 +exonic LAMA5 chr20 60899206 60899206 C T het . 2 +exonic LAMA5 chr20 60900481 60900481 A G het . 11 +exonic LAMA5 chr20 60900579 60900579 C A het . 3 +intronic LAMA5 chr20 60902490 60902490 C T het . 3 +intronic LAMA5 chr20 60902544 60902544 A C het . 7 +intronic LAMA5 chr20 60902883 60902883 C T het . 2 +exonic LAMA5 chr20 60904853 60904853 T C het . 6 +exonic LAMA5 chr20 60905878 60905878 A G het . 4 +intronic LAMA5 chr20 60906055 60906055 C T het . 5 +exonic LAMA5 chr20 60907446 60907446 T C het . 6 +exonic LAMA5 chr20 60907675 60907675 G A het . 4 +exonic LAMA5 chr20 60908964 60908964 G A het . 4 +exonic LAMA5 chr20 60908969 60908969 T C het . 6 +exonic LAMA5 chr20 60909060 60909060 A G het . 14 +intronic LAMA5 chr20 60909974 60909974 T C het . 2 +intronic LAMA5 chr20 60911958 60911958 G A het . 10 +exonic LAMA5 chr20 60912683 60912683 T C het . 6 +intronic LAMA5 chr20 60913495 60913495 T C het . 4 +intronic LAMA5 chr20 60917294 60917294 G A het . 6 +intronic LAMA5 chr20 60919263 60919263 G A het . 3 +intronic LAMA5 chr20 60920624 60920624 A G het . 9 +exonic LAMA5 chr20 60920887 60920887 G A het . 9 +intronic LAMA5 chr20 60921085 60921085 C T het . 5 +exonic LAMA5 chr20 60921643 60921643 T C het . 8 +intronic LAMA5 chr20 60921701 60921701 A G het . 5 +intronic LAMA5 chr20 60921896 60921896 A G het . 7 +intronic LAMA5 chr20 60926223 60926223 G A het . 2 +exonic LAMA5 chr20 60927349 60927349 C T het . 12 +exonic LAMA5 chr20 60927412 60927412 G A het . 6 +intronic LAMA5 chr20 60927482 60927482 G A het . 3 +exonic LAMA5 chr20 60937597 60937597 A G het . 3 +intergenic LAMA5(dist=7075),RPS21(dist=12678) chr20 60949443 60949443 A G het . 1 +exonic CABLES2 chr20 60966318 60966318 G T het . 6 +exonic RBBP8NL chr20 60988534 60988534 T G het . 3 +exonic RBBP8NL chr20 60989187 60989187 G T het . 8 +intronic RBBP8NL chr20 60992224 60992224 T C het . 2 +intronic RBBP8NL chr20 60992402 60992402 G A het . 6 +intergenic RBBP8NL(dist=9688),GATA5(dist=26236) chr20 61012317 61012317 T G het . 3 +exonic GATA5 chr20 61039958 61039958 T C het . 3 +intronic GATA5 chr20 61041653 61041653 G C het . 5 +intronic GATA5 chr20 61041687 61041687 C T het . 4 +exonic GATA5 chr20 61048549 61048549 G A het . 16 +ncRNA_exonic MIR1-1HG-AS1 chr20 61143364 61143364 T C het . 2 +ncRNA_exonic MIR1-1HG-AS1 chr20 61143487 61143487 T C het . 6 +intronic MIR1-1HG chr20 61150928 61150928 A G het . 6 +intronic MIR1-1HG chr20 61150997 61150997 C T het . 4 +exonic MIR1-1HG chr20 61162267 61162267 T C het . 7 +intronic MIR1-1HG chr20 61167632 61167632 - T het . 7 +exonic MIR1-1HG chr20 61167883 61167883 G A het . 4 +UTR3 MIR1-1HG(NM_001302812:c.*50T>C,NM_178463:c.*50T>C) chr20 61167934 61167934 T C het . 2 +intergenic MIR1-1HG(dist=3210),SLCO4A1(dist=102616) chr20 61171181 61171181 C T het . 1 +intergenic MIR1-1HG(dist=11022),SLCO4A1(dist=94804) chr20 61178993 61178993 A G het . 2 +upstream SLCO4A1(dist=80) chr20 61273717 61273717 G C het . 2 +intronic SLCO4A1 chr20 61299715 61299715 - G het . 3 +intronic SLCO4A1 chr20 61302834 61302834 C T het . 4 +intergenic SLCO4A1(dist=10776),NTSR1(dist=25766) chr20 61314423 61314423 A G het . 2 +intergenic SLCO4A1(dist=22209),NTSR1(dist=14333) chr20 61325856 61325856 T C het . 2 +intronic NTSR1 chr20 61363471 61363471 - A het . 2 +intronic NTSR1 chr20 61367414 61367414 T C het . 2 +intronic NTSR1 chr20 61376825 61376825 G A het . 2 +intronic NTSR1 chr20 61391367 61391367 C A het . 6 +intergenic NTSR1(dist=9143),LINC00659(dist=2207) chr20 61403266 61403266 A G het . 2 +intergenic NTSR1(dist=9918),LINC00659(dist=1432) chr20 61404041 61404041 - C het . 2 +intronic OGFR chr20 61441797 61441797 A G het . 5 +exonic OGFR chr20 61443687 61443687 G A het . 11 +exonic COL9A3 chr20 61448969 61448969 C T het . 8 +intronic COL9A3 chr20 61449057 61449057 C T het . 5 +intronic COL9A3 chr20 61453549 61453549 G A het . 12 +intronic COL9A3 chr20 61458547 61458547 A T het . 9 +intronic COL9A3 chr20 61460338 61460338 C T het . 12 +intronic COL9A3 chr20 61467701 61467701 G A het . 38 +intronic COL9A3 chr20 61467800 61467800 A G het . 35 +intronic COL9A3 chr20 61467898 61467898 G C het . 11 +exonic COL9A3 chr20 61468571 61468571 T C het . 17 +intronic COL9A3 chr20 61471746 61471746 - CT het . 3 +intronic COL9A3 chr20 61471768 61471768 G C het . 3 +intronic COL9A3 chr20 61471799 61471799 A T het . 4 +intronic TCFL5 chr20 61479496 61479496 C G het . 2 +intronic TCFL5 chr20 61480444 61480444 G C het . 4 +UTR3 TCFL5(NM_001301726:c.*90T>C) chr20 61484142 61484142 A G het . 6 +intronic TCFL5 chr20 61485211 61485211 A G het . 3 +exonic TCFL5 chr20 61488785 61488785 T C het . 4 +intronic TCFL5 chr20 61489101 61489101 G C het . 3 +intergenic TCFL5(dist=2502),DIDO1(dist=13473) chr20 61495617 61495617 G C het . 2 +intergenic TCFL5(dist=6634),DIDO1(dist=9341) chr20 61499749 61499749 A G het . 3 +intergenic TCFL5(dist=10723),DIDO1(dist=5252) chr20 61503838 61503838 C A het . 4 +intergenic TCFL5(dist=12192),DIDO1(dist=3783) chr20 61505307 61505307 G A het . 4 +exonic DIDO1 chr20 61512606 61512606 T C het . 6 +intronic DIDO1 chr20 61524385 61524386 TT - het . 10 +intronic GID8 chr20 61575956 61575956 A G het . 2 +UTR3 GID8(NM_017896:c.*1011T>C) chr20 61577275 61577275 T C het . 19 +exonic SLC17A9 chr20 61588159 61588159 A G het . 13 +intronic SLC17A9 chr20 61588745 61588745 C T het . 4 +exonic SLC17A9 chr20 61594679 61594679 A G het . 13 +intronic SLC17A9 chr20 61595537 61595537 A G het . 9 +intronic SLC17A9 chr20 61597947 61597947 T - het . 6 +intergenic SLC17A9(dist=22524),BHLHE23(dist=14858) chr20 61622473 61622473 A G het . 2 +intergenic SLC17A9(dist=26885),BHLHE23(dist=10497) chr20 61626834 61626834 A G het . 2 +ncRNA_intronic LINC01749 chr20 61705727 61705727 T A het . 1 +ncRNA_intronic LINC01749 chr20 61705739 61705739 G A het . 1 +ncRNA_intronic LINC01749 chr20 61706077 61706077 A G het . 2 +ncRNA_intronic LINC01749 chr20 61707830 61707830 A G het . 2 +ncRNA_intronic LINC01749 chr20 61707885 61707885 G - het . 2 +ncRNA_intronic LINC01749 chr20 61708650 61708650 C T het . 2 +ncRNA_intronic LINC01749 chr20 61708655 61708655 C A het . 2 +ncRNA_intronic HAR1B chr20 61732538 61732538 T C het . 1 +intergenic HAR1A(dist=21158),MIR124-3(dist=52956) chr20 61756896 61756896 C T het . 2 +intergenic MIR124-3(dist=13523),YTHDF1(dist=3321) chr20 61823461 61823461 C T het . 5 +exonic YTHDF1 chr20 61834695 61834695 G A het . 7 +intronic YTHDF1 chr20 61842260 61842260 G T het . 3 +intergenic YTHDF1(dist=11665),BIRC7(dist=8032) chr20 61859203 61859203 T C het . 3 +intergenic YTHDF1(dist=11964),BIRC7(dist=7733) chr20 61859502 61859502 C T het . 2 +intergenic YTHDF1(dist=13401),BIRC7(dist=6296) chr20 61860939 61860939 C T het . 2 +intronic BIRC7 chr20 61869607 61869607 C A het . 2 +exonic BIRC7 chr20 61869826 61869826 C T het . 8 +exonic BIRC7 chr20 61870727 61870727 G C het . 9 +intronic NKAIN4 chr20 61872905 61872905 A G het . 5 +intronic NKAIN4 chr20 61873039 61873039 T C het . 10 +intronic NKAIN4 chr20 61875497 61875497 A C het . 6 +intronic NKAIN4 chr20 61875909 61875909 C T het . 17 +exonic NKAIN4 chr20 61879009 61879009 G T het . 5 +intronic NKAIN4 chr20 61880073 61880073 G A het . 2 +intronic NKAIN4 chr20 61880274 61880274 A G het . 7 +exonic NKAIN4 chr20 61881296 61881296 A G het . 7 +ncRNA_exonic FLJ16779 chr20 61885452 61885452 G T het . 5 +intergenic FLJ16779(dist=2334),ARFGAP1(dist=8836) chr20 61895301 61895301 G T het . 1 +intergenic FLJ16779(dist=2344),ARFGAP1(dist=8826) chr20 61895311 61895311 T C het . 2 +intergenic FLJ16779(dist=6992),ARFGAP1(dist=4178) chr20 61899959 61899959 G C het . 2 +intergenic FLJ16779(dist=7338),ARFGAP1(dist=3832) chr20 61900305 61900305 C T het . 2 +intronic ARFGAP1 chr20 61907075 61907075 T C het . 5 +intronic ARFGAP1 chr20 61911801 61911801 T C het . 2 +intronic ARFGAP1 chr20 61912715 61912715 T C het . 6 +intronic ARFGAP1 chr20 61917241 61917241 A G het . 3 +exonic COL20A1 chr20 61941747 61941747 A G het . 8 +intronic COL20A1 chr20 61946692 61946692 C T het . 6 +exonic COL20A1 chr20 61951489 61951489 G C het . 2 +intronic COL20A1 chr20 61951789 61951789 C T het . 3 +intronic COL20A1 chr20 61956782 61956782 T C het . 3 +UTR3 CHRNA4(NM_001256573:c.*2260delA,NM_000744:c.*2260delA) chr20 61975830 61975830 T - het . 32 +UTR3 CHRNA4(NM_001256573:c.*2196G>T,NM_000744:c.*2196G>T) chr20 61975894 61975894 C A het . 30 +UTR3 CHRNA4(NM_001256573:c.*534C>T,NM_000744:c.*534C>T) chr20 61977556 61977556 G A het . 13 +exonic CHRNA4 chr20 61981104 61981104 C T het . 10 +exonic CHRNA4 chr20 61981134 61981134 G A het . 8 +exonic CHRNA4 chr20 61981536 61981536 A G het . 2 +exonic CHRNA4 chr20 61981554 61981554 C A het . 6 +exonic CHRNA4 chr20 61982085 61982085 A G het . 29 +exonic CHRNA4 chr20 61982124 61982124 A G het . 36 +intronic CHRNA4 chr20 61990874 61990874 T C het . 21 +exonic CHRNA4 chr20 61992467 61992467 C T het . 10 +ncRNA_intronic LOC100130587 chr20 61992547 61992547 G C het . 6 +intergenic LOC100130587(dist=9654),KCNQ2(dist=19384) chr20 62012183 62012183 C T het . 2 +exonic KCNQ2 chr20 62038277 62038277 T G het . 14 +intronic KCNQ2 chr20 62046496 62046496 - GACAGACA het . 18 +intronic KCNQ2 chr20 62072308 62072308 G A het . 2 +exonic KCNQ2 chr20 62076059 62076059 C T het . 9 +UTR3 EEF1A2(NM_001958:c.*36T>C) chr20 62119615 62119615 A G het . 3 +intronic EEF1A2 chr20 62121726 62121726 T C het . 2 +intronic EEF1A2 chr20 62123648 62123648 T G het . 3 +exonic EEF1A2 chr20 62126185 62126185 A G het . 15 +exonic EEF1A2 chr20 62126299 62126299 C T het . 19 +upstream EEF1A2(dist=28) chr20 62130696 62130696 G A het . 1 +upstream EEF1A2(dist=951) chr20 62131619 62131619 T G het . 1 +downstream PTK6(dist=976) chr20 62158800 62158800 A - het . 5 +exonic SRMS chr20 62172219 62172219 G A het . 8 +intronic SRMS chr20 62173029 62173029 A G het . 2 +exonic SRMS chr20 62173562 62173562 G T het . 4 +exonic SRMS chr20 62174724 62174724 G A het . 13 +exonic FNDC11 chr20 62187187 62187187 T C het . 11 +exonic FNDC11 chr20 62187439 62187439 T C het . 9 +exonic HELZ2 chr20 62191321 62191321 A G het . 19 +intronic HELZ2 chr20 62191475 62191475 T G het . 4 +intronic HELZ2 chr20 62193414 62193414 A G het . 10 +exonic HELZ2 chr20 62194030 62194030 G C het . 14 +exonic HELZ2 chr20 62194103 62194103 A G het . 15 +exonic HELZ2 chr20 62194713 62194713 A C het . 17 +exonic HELZ2 chr20 62195087 62195087 A G het . 17 +exonic HELZ2 chr20 62195220 62195220 C T het . 15 +exonic HELZ2 chr20 62195672 62195672 C T het . 15 +exonic HELZ2 chr20 62196033 62196033 C T het . 13 +exonic HELZ2 chr20 62196182 62196182 G C het . 7 +exonic HELZ2 chr20 62196253 62196253 C A het . 15 +exonic HELZ2 chr20 62196807 62196807 T C het . 23 +exonic HELZ2 chr20 62196884 62196884 A G het . 20 +exonic HELZ2 chr20 62198236 62198236 G A het . 9 +exonic HELZ2 chr20 62198348 62198348 C T het . 13 +exonic HELZ2 chr20 62198662 62198662 A G het . 15 +exonic HELZ2 chr20 62200575 62200575 T C het . 3 +exonic HELZ2 chr20 62200860 62200860 A G het . 13 +intergenic HELZ2(dist=3284),GMEB2(dist=10071) chr20 62208876 62208876 A G het . 2 +exonic GMEB2 chr20 62221610 62221610 T C het . 4 +intronic GMEB2 chr20 62223371 62223371 A G het . 5 +intronic GMEB2 chr20 62224083 62224083 C T het . 8 +exonic GMEB2 chr20 62227081 62227081 A G het . 10 +intronic GMEB2 chr20 62234241 62234241 A G het . 3 +intronic GMEB2 chr20 62234273 62234273 A G het . 2 +exonic GMEB2 chr20 62236148 62236148 T C het . 20 +intronic GMEB2 chr20 62245826 62245826 C G het . 14 +intergenic MHENCR(dist=3570),STMN3(dist=7311) chr20 62263747 62263747 G A het . 2 +intergenic MHENCR(dist=8150),STMN3(dist=2731) chr20 62268327 62268327 T A het . 2 +intergenic MHENCR(dist=9187),STMN3(dist=1694) chr20 62269364 62269364 T C het . 1 +UTR3 STMN3(NM_001276310:c.*33A>G,NM_015894:c.*33A>G) chr20 62272658 62272658 T C het . 3 +intronic STMN3 chr20 62273435 62273435 G A het . 3 +intronic STMN3 chr20 62274548 62274548 G T het . 2 +intronic STMN3 chr20 62278387 62278387 G A het . 1 +ncRNA_exonic RTEL1-TNFRSF6B chr20 62289614 62289614 G C het . 2 +ncRNA_exonic RTEL1-TNFRSF6B chr20 62290663 62290663 C T het . 2 +ncRNA_intronic RTEL1-TNFRSF6B chr20 62293118 62293118 C T het . 7 +ncRNA_intronic RTEL1-TNFRSF6B chr20 62294015 62294015 C T het . 5 +ncRNA_intronic RTEL1-TNFRSF6B chr20 62294158 62294158 C T het . 13 +ncRNA_intronic RTEL1-TNFRSF6B chr20 62306208 62306208 C T het . 3 +ncRNA_intronic RTEL1-TNFRSF6B chr20 62309554 62309554 C T het . 12 +ncRNA_intronic RTEL1-TNFRSF6B chr20 62315593 62315594 CG TT het . 2 +ncRNA_intronic RTEL1-TNFRSF6B chr20 62319464 62319464 T C het . 8 +ncRNA_intronic RTEL1-TNFRSF6B chr20 62319561 62319561 C G het . 8 +ncRNA_intronic RTEL1-TNFRSF6B chr20 62319604 62319604 A C het . 7 +exonic RTEL1 chr20 62320968 62320968 T C het . 9 +exonic RTEL1 chr20 62321189 62321189 C T het . 8 +exonic RTEL1 chr20 62322288 62322288 T C het . 5 +exonic RTEL1 chr20 62326110 62326110 A C het . 4 +exonic TNFRSF6B chr20 62328375 62328375 A G het . 16 +intronic ARFRP1 chr20 62332436 62332436 A G het . 2 +intronic ARFRP1 chr20 62332638 62332638 - C het . 21 +intronic ARFRP1 chr20 62337622 62337622 A G het . 3 +exonic ZGPAT chr20 62340115 62340115 C G het . 4 +intronic ZGPAT chr20 62348158 62348158 T C het . 2 +intronic ZGPAT chr20 62348190 62348190 C T het . 2 +intronic ZGPAT chr20 62348460 62348460 C T het . 2 +intronic ZGPAT chr20 62364885 62364885 T A het . 8 +intronic LIME1 chr20 62369300 62369300 C G het . 6 +intronic SLC2A4RG chr20 62372706 62372706 G A het . 11 +exonic SLC2A4RG chr20 62372813 62372813 G A het . 5 +exonic SLC2A4RG chr20 62373707 62373707 G T het . 2 +intronic SLC2A4RG chr20 62374219 62374219 A C het . 6 +exonic ZBTB46 chr20 62378349 62378349 C T het . 13 +exonic ZBTB46 chr20 62378364 62378364 C T het . 15 +intronic ZBTB46 chr20 62404607 62404607 T C het . 4 +intronic ZBTB46 chr20 62405863 62405863 G C het . 2 +ncRNA_intronic ZBTB46-AS1 chr20 62452572 62452572 G T het . 2 +intronic TPD52L2 chr20 62518689 62518689 C G het . 2 +intronic TPD52L2 chr20 62520671 62520671 T C het . 11 +intronic TPD52L2 chr20 62520674 62520674 G T het . 10 +intronic DNAJC5 chr20 62541982 62541982 G A het . 2 +intronic DNAJC5 chr20 62547032 62547032 T C het . 2 +intronic DNAJC5 chr20 62548664 62548664 - G het . 2 +intronic DNAJC5 chr20 62551988 62551988 G T het . 2 +intronic DNAJC5 chr20 62562194 62562194 C T het . 20 +ncRNA_exonic MIR647 chr20 62574006 62574006 A G het . 5 +intronic UCKL1 chr20 62576991 62576991 G A het . 7 +exonic ZNF512B chr20 62595169 62595169 A G het . 18 +exonic ZNF512B chr20 62597694 62597694 T G het . 24 +exonic ZNF512B chr20 62598815 62598815 C T het . 7 +intronic ZNF512B chr20 62599442 62599442 C T het . 4 +intronic SAMD10 chr20 62609670 62609670 A G het . 13 +intronic PRPF6 chr20 62612675 62612675 G A het . 9 +intronic PRPF6 chr20 62626937 62626937 C T het . 6 +exonic PRPF6 chr20 62641605 62641605 G A het . 35 +intronic PRPF6 chr20 62641834 62641834 T C het . 2 +intronic PRPF6 chr20 62663136 62663136 A C het . 6 +intronic TCEA2 chr20 62697751 62697751 T C het . 3 +intronic TCEA2 chr20 62698188 62698188 G A het . 4 +intronic TCEA2 chr20 62698484 62698484 G A het . 3 +exonic LKAAEAR1 chr20 62714783 62714783 C G het . 8 +exonic LKAAEAR1 chr20 62715548 62715548 C A het . 2 +exonic OPRL1 chr20 62729856 62729856 G A het . 25 +exonic NPBWR2 chr20 62737318 62737318 G A het . 13 +intergenic NPBWR2(dist=53186),MYT1(dist=4457) chr20 62791370 62791370 G C het . 2 +exonic MYT1 chr20 62863601 62863601 C T het . 34 +intergenic PCMTD2(dist=7320),LINC00266-1(dist=6839) chr20 62914899 62914899 A T het . 2 +intergenic NONE(dist=NONE),MIR3648-2(dist=407816) chr21 9418016 9418016 T G het . 3 +intergenic NONE(dist=NONE),MIR3648-2(dist=407743) chr21 9418089 9418089 G A het . 5 +intergenic NONE(dist=NONE),MIR3648-2(dist=406836) chr21 9418996 9418996 T C het . 2 +intergenic NONE(dist=NONE),MIR3648-2(dist=406831) chr21 9419001 9419001 A C het . 2 +intergenic NONE(dist=NONE),MIR3648-2(dist=246256) chr21 9579576 9579576 T C het . 2 +intergenic NONE(dist=NONE),MIR3648-2(dist=166606) chr21 9659226 9659226 G A het . 3 +intergenic NONE(dist=NONE),MIR3648-2(dist=166578) chr21 9659254 9659254 G A het . 3 +intergenic NONE(dist=NONE),MIR3648-2(dist=160939) chr21 9664893 9664893 G A het . 4 +intergenic NONE(dist=NONE),MIR3648-2(dist=160922) chr21 9664910 9664910 C G het . 4 +intergenic MIR3648-2(dist=2146),TEKT4P2(dist=79032) chr21 9828157 9828157 G C het . 2 +intergenic MIR3648-2(dist=2167),TEKT4P2(dist=79011) chr21 9828178 9828178 T C het . 3 +intergenic MIR3648-2(dist=2286),TEKT4P2(dist=78892) chr21 9828297 9828297 T C het . 1 +intergenic MIR3648-2(dist=2633),TEKT4P2(dist=78544) chr21 9828644 9828645 TC - het . 3 +intergenic MIR3648-2(dist=2662),TEKT4P2(dist=78516) chr21 9828673 9828673 T - het . 3 +intergenic MIR3648-2(dist=3088),TEKT4P2(dist=78090) chr21 9829099 9829099 T G het . 2 +intergenic MIR3648-2(dist=5046),TEKT4P2(dist=76132) chr21 9831057 9831057 G A het . 1 +intergenic MIR3648-2(dist=5789),TEKT4P2(dist=75389) chr21 9831800 9831800 G T het . 2 +intergenic MIR3648-2(dist=5970),TEKT4P2(dist=75208) chr21 9831981 9831981 T C het . 2 +intergenic MIR3648-2(dist=5994),TEKT4P2(dist=75184) chr21 9832005 9832005 G T het . 2 +intergenic MIR3648-2(dist=6140),TEKT4P2(dist=75038) chr21 9832151 9832151 C T het . 2 +intergenic MIR3648-2(dist=6152),TEKT4P2(dist=75024) chr21 9832163 9832165 TTG - het . 1 +intergenic MIR3648-2(dist=6169),TEKT4P2(dist=75009) chr21 9832180 9832180 T C het . 2 +intergenic MIR3648-2(dist=6411),TEKT4P2(dist=74767) chr21 9832422 9832422 A G het . 2 +intergenic MIR3648-2(dist=6449),TEKT4P2(dist=74729) chr21 9832460 9832460 A C het . 1 +intergenic MIR3648-2(dist=6459),TEKT4P2(dist=74719) chr21 9832470 9832470 - G het . 1 +intergenic MIR3648-2(dist=6689),TEKT4P2(dist=74489) chr21 9832700 9832700 A C het . 5 +intergenic MIR3648-2(dist=6692),TEKT4P2(dist=74486) chr21 9832703 9832703 T A het . 5 +intergenic MIR3648-2(dist=6727),TEKT4P2(dist=74451) chr21 9832738 9832738 C T het . 3 +intergenic MIR3648-2(dist=7100),TEKT4P2(dist=74078) chr21 9833111 9833111 T C het . 1 +intergenic MIR3648-2(dist=7437),TEKT4P2(dist=73741) chr21 9833448 9833448 T G het . 5 +intergenic MIR3648-2(dist=7487),TEKT4P2(dist=73691) chr21 9833498 9833498 A T het . 4 +intergenic MIR3648-2(dist=7852),TEKT4P2(dist=73326) chr21 9833863 9833863 A G het . 2 +intergenic MIR3648-2(dist=8018),TEKT4P2(dist=73160) chr21 9834029 9834029 G A het . 2 +intergenic MIR3648-2(dist=8072),TEKT4P2(dist=73106) chr21 9834083 9834083 G A het . 3 +intergenic MIR3648-2(dist=9131),TEKT4P2(dist=72047) chr21 9835142 9835142 T C het . 2 +intergenic MIR3648-2(dist=10447),TEKT4P2(dist=70731) chr21 9836458 9836458 C G het . 2 +intergenic MIR3648-2(dist=12099),TEKT4P2(dist=69079) chr21 9838110 9838110 G T het . 2 +intergenic MIR3648-2(dist=12101),TEKT4P2(dist=69077) chr21 9838112 9838112 A T het . 2 +intergenic MIR3648-2(dist=13751),TEKT4P2(dist=67427) chr21 9839762 9839762 C G het . 3 +intergenic MIR3648-2(dist=15633),TEKT4P2(dist=65545) chr21 9841644 9841644 G A het . 2 +intergenic MIR3648-2(dist=19964),TEKT4P2(dist=61214) chr21 9845975 9845975 G C het . 2 +intergenic MIR3648-2(dist=19968),TEKT4P2(dist=61210) chr21 9845979 9845979 T C het . 2 +intergenic MIR3648-2(dist=25103),TEKT4P2(dist=56075) chr21 9851114 9851114 - T het . 2 +intergenic MIR3648-2(dist=25692),TEKT4P2(dist=55486) chr21 9851703 9851703 T G het . 2 +intergenic MIR3648-2(dist=25922),TEKT4P2(dist=55256) chr21 9851933 9851933 C T het . 4 +intergenic MIR3648-2(dist=25955),TEKT4P2(dist=55223) chr21 9851966 9851966 G C het . 2 +intergenic MIR3648-2(dist=27109),TEKT4P2(dist=54069) chr21 9853120 9853120 T C het . 1 +intergenic MIR3648-2(dist=27949),TEKT4P2(dist=53229) chr21 9853960 9853960 A C het . 4 +intergenic MIR3648-2(dist=27987),TEKT4P2(dist=53191) chr21 9853998 9853998 G A het . 4 +intergenic MIR3648-2(dist=28521),TEKT4P2(dist=52657) chr21 9854532 9854532 T C het . 1 +intergenic MIR3648-2(dist=39950),TEKT4P2(dist=41228) chr21 9865961 9865961 C T het . 3 +ncRNA_exonic TEKT4P2 chr21 9907345 9907345 C T het . 20 +intergenic TEKT4P2(dist=117055),TPTE(dist=820538) chr21 10085649 10085649 T A het . 3 +intergenic TEKT4P2(dist=117058),TPTE(dist=820535) chr21 10085652 10085652 C A het . 3 +intergenic TEKT4P2(dist=117060),TPTE(dist=820533) chr21 10085654 10085654 G C het . 3 +intergenic TEKT4P2(dist=117071),TPTE(dist=820522) chr21 10085665 10085665 T G het . 3 +intergenic TEKT4P2(dist=117075),TPTE(dist=820518) chr21 10085669 10085669 A G het . 3 +intergenic TEKT4P2(dist=501747),TPTE(dist=435846) chr21 10470341 10470341 T A het . 3 +intergenic TEKT4P2(dist=566745),TPTE(dist=370848) chr21 10535339 10535339 - G het . 5 +intergenic TEKT4P2(dist=621390),TPTE(dist=316203) chr21 10589984 10589984 T - het . 2 +intergenic TEKT4P2(dist=624029),TPTE(dist=313564) chr21 10592623 10592623 T C het . 5 +intergenic TEKT4P2(dist=646262),TPTE(dist=291331) chr21 10614856 10614856 G C het . 23 +intergenic TEKT4P2(dist=729922),TPTE(dist=207671) chr21 10698516 10698516 G A het . 3 +intergenic TEKT4P2(dist=730184),TPTE(dist=207409) chr21 10698778 10698778 T C het . 2 +intergenic TEKT4P2(dist=730359),TPTE(dist=207234) chr21 10698953 10698953 T C het . 3 +intergenic TEKT4P2(dist=730521),TPTE(dist=207072) chr21 10699115 10699115 A C het . 3 +intergenic TEKT4P2(dist=730535),TPTE(dist=207058) chr21 10699129 10699129 T C het . 4 +intergenic TEKT4P2(dist=730578),TPTE(dist=207015) chr21 10699172 10699172 T C het . 5 +intergenic TEKT4P2(dist=730640),TPTE(dist=206953) chr21 10699234 10699234 A G het . 6 +intergenic TEKT4P2(dist=730667),TPTE(dist=206926) chr21 10699261 10699261 T G het . 4 +intergenic TEKT4P2(dist=730882),TPTE(dist=206711) chr21 10699476 10699476 C T het . 3 +intergenic TEKT4P2(dist=730992),TPTE(dist=206601) chr21 10699586 10699586 C A het . 2 +intergenic TEKT4P2(dist=731001),TPTE(dist=206592) chr21 10699595 10699595 G T het . 3 +intergenic TEKT4P2(dist=731129),TPTE(dist=206464) chr21 10699723 10699723 T C het . 4 +intergenic TEKT4P2(dist=731134),TPTE(dist=206459) chr21 10699728 10699728 C T het . 4 +intergenic TEKT4P2(dist=731332),TPTE(dist=206261) chr21 10699926 10699926 G T het . 2 +intergenic TEKT4P2(dist=731436),TPTE(dist=206157) chr21 10700030 10700030 A T het . 2 +intergenic TEKT4P2(dist=731446),TPTE(dist=206147) chr21 10700040 10700040 A G het . 2 +intergenic TEKT4P2(dist=731772),TPTE(dist=205821) chr21 10700366 10700366 G A het . 4 +intergenic TEKT4P2(dist=731792),TPTE(dist=205801) chr21 10700386 10700386 G A het . 2 +intergenic TEKT4P2(dist=732230),TPTE(dist=205363) chr21 10700824 10700824 A G het . 4 +intergenic TEKT4P2(dist=732271),TPTE(dist=205322) chr21 10700865 10700865 G T het . 4 +intergenic TEKT4P2(dist=732292),TPTE(dist=205301) chr21 10700886 10700886 T - het . 5 +intergenic TEKT4P2(dist=732534),TPTE(dist=205059) chr21 10701128 10701128 T C het . 6 +intergenic TEKT4P2(dist=732609),TPTE(dist=204984) chr21 10701203 10701203 A T het . 4 +intergenic TEKT4P2(dist=732699),TPTE(dist=204894) chr21 10701293 10701293 A T het . 2 +intergenic TEKT4P2(dist=732705),TPTE(dist=204888) chr21 10701299 10701299 A C het . 2 +intergenic TEKT4P2(dist=732715),TPTE(dist=204878) chr21 10701309 10701309 G A het . 2 +intergenic TEKT4P2(dist=732796),TPTE(dist=204797) chr21 10701390 10701390 C T het . 8 +intergenic TEKT4P2(dist=732812),TPTE(dist=204781) chr21 10701406 10701406 T A het . 10 +intergenic TEKT4P2(dist=732814),TPTE(dist=204779) chr21 10701408 10701408 G A het . 10 +intergenic TEKT4P2(dist=732823),TPTE(dist=204770) chr21 10701417 10701417 T A het . 10 +intergenic TEKT4P2(dist=732919),TPTE(dist=204674) chr21 10701513 10701513 G T het . 2 +intergenic TEKT4P2(dist=733253),TPTE(dist=204340) chr21 10701847 10701847 C T het . 2 +intergenic TEKT4P2(dist=733467),TPTE(dist=204126) chr21 10702061 10702061 G A het . 5 +intergenic TEKT4P2(dist=733483),TPTE(dist=204110) chr21 10702077 10702077 A G het . 5 +intergenic TEKT4P2(dist=733582),TPTE(dist=204011) chr21 10702176 10702176 T C het . 13 +intergenic TEKT4P2(dist=733593),TPTE(dist=204000) chr21 10702187 10702187 T G het . 13 +intergenic TEKT4P2(dist=733601),TPTE(dist=203992) chr21 10702195 10702195 - CC het . 15 +intergenic TEKT4P2(dist=733602),TPTE(dist=203991) chr21 10702196 10702196 T C het . 15 +intergenic TEKT4P2(dist=733614),TPTE(dist=203979) chr21 10702208 10702208 T G het . 20 +intergenic TEKT4P2(dist=733621),TPTE(dist=203972) chr21 10702215 10702215 T G het . 24 +intergenic TEKT4P2(dist=733635),TPTE(dist=203958) chr21 10702229 10702229 T C het . 29 +intergenic TEKT4P2(dist=733642),TPTE(dist=203951) chr21 10702236 10702236 - G het . 28 +intergenic TEKT4P2(dist=733647),TPTE(dist=203946) chr21 10702241 10702241 T G het . 26 +intergenic TEKT4P2(dist=733649),TPTE(dist=203944) chr21 10702243 10702243 T G het . 26 +intergenic TEKT4P2(dist=733654),TPTE(dist=203939) chr21 10702248 10702248 C G het . 24 +intergenic TEKT4P2(dist=733656),TPTE(dist=203937) chr21 10702250 10702250 A G het . 23 +intergenic TEKT4P2(dist=733703),TPTE(dist=203890) chr21 10702297 10702297 T C het . 10 +intergenic TEKT4P2(dist=733724),TPTE(dist=203869) chr21 10702318 10702318 C T het . 3 +intergenic TEKT4P2(dist=733749),TPTE(dist=203844) chr21 10702343 10702343 G A het . 4 +intergenic TEKT4P2(dist=733769),TPTE(dist=203824) chr21 10702363 10702363 C G het . 3 +intergenic TEKT4P2(dist=733884),TPTE(dist=203709) chr21 10702478 10702478 A G het . 4 +intergenic TEKT4P2(dist=734173),TPTE(dist=203420) chr21 10702767 10702767 C A het . 2 +intergenic TEKT4P2(dist=734180),TPTE(dist=203413) chr21 10702774 10702774 T G het . 2 +intergenic TEKT4P2(dist=734188),TPTE(dist=203403) chr21 10702782 10702784 GCA CTC het . 1 +intergenic TEKT4P2(dist=734451),TPTE(dist=203142) chr21 10703045 10703045 T G het . 5 +intergenic TEKT4P2(dist=734488),TPTE(dist=203105) chr21 10703082 10703082 T A het . 6 +intergenic TEKT4P2(dist=734491),TPTE(dist=203102) chr21 10703085 10703085 T C het . 6 +intergenic TEKT4P2(dist=734732),TPTE(dist=202861) chr21 10703326 10703326 A T het . 2 +intergenic TEKT4P2(dist=735017),TPTE(dist=202576) chr21 10703611 10703611 T C het . 2 +intergenic TEKT4P2(dist=735027),TPTE(dist=202566) chr21 10703621 10703621 G A het . 1 +intergenic TEKT4P2(dist=735617),TPTE(dist=201976) chr21 10704211 10704211 T C het . 3 +intergenic TEKT4P2(dist=735639),TPTE(dist=201954) chr21 10704233 10704233 A G het . 4 +intergenic TEKT4P2(dist=735669),TPTE(dist=201923) chr21 10704263 10704264 TG GA het . 2 +intergenic TEKT4P2(dist=735748),TPTE(dist=201845) chr21 10704342 10704342 C A het . 4 +intergenic TEKT4P2(dist=736020),TPTE(dist=201573) chr21 10704614 10704614 G T het . 7 +intergenic TEKT4P2(dist=736521),TPTE(dist=201072) chr21 10705115 10705115 T A het . 5 +intergenic TEKT4P2(dist=737057),TPTE(dist=200536) chr21 10705651 10705651 T C het . 2 +intergenic TEKT4P2(dist=737325),TPTE(dist=200268) chr21 10705919 10705919 C T het . 3 +intergenic TEKT4P2(dist=737482),TPTE(dist=200111) chr21 10706076 10706076 G C het . 2 +intergenic TEKT4P2(dist=737501),TPTE(dist=200092) chr21 10706095 10706095 T C het . 2 +intergenic TEKT4P2(dist=737746),TPTE(dist=199847) chr21 10706340 10706340 G C het . 1 +intergenic TEKT4P2(dist=737754),TPTE(dist=199839) chr21 10706348 10706348 G C het . 1 +intergenic TEKT4P2(dist=738185),TPTE(dist=199408) chr21 10706779 10706779 C T het . 5 +intergenic TEKT4P2(dist=738189),TPTE(dist=199404) chr21 10706783 10706783 T A het . 5 +intergenic TEKT4P2(dist=738204),TPTE(dist=199389) chr21 10706798 10706798 A C het . 6 +intergenic TEKT4P2(dist=738425),TPTE(dist=199168) chr21 10707019 10707019 C A het . 4 +intergenic TEKT4P2(dist=738588),TPTE(dist=199005) chr21 10707182 10707182 C T het . 1 +intergenic TEKT4P2(dist=738720),TPTE(dist=198872) chr21 10707314 10707315 CC AA het . 5 +intergenic TEKT4P2(dist=738730),TPTE(dist=198863) chr21 10707324 10707324 C T het . 5 +intergenic TEKT4P2(dist=738906),TPTE(dist=198687) chr21 10707500 10707500 G A het . 2 +intergenic TEKT4P2(dist=738944),TPTE(dist=198649) chr21 10707538 10707538 C A het . 2 +intergenic TEKT4P2(dist=738947),TPTE(dist=198646) chr21 10707541 10707541 C T het . 2 +intergenic TEKT4P2(dist=740336),TPTE(dist=197257) chr21 10708930 10708930 T C het . 2 +intergenic TEKT4P2(dist=740778),TPTE(dist=196815) chr21 10709372 10709372 G A het . 2 +intergenic TEKT4P2(dist=740950),TPTE(dist=196643) chr21 10709544 10709544 G A het . 2 +intergenic TEKT4P2(dist=741238),TPTE(dist=196355) chr21 10709832 10709832 - G het . 3 +intergenic TEKT4P2(dist=741330),TPTE(dist=196263) chr21 10709924 10709924 G T het . 2 +intergenic TEKT4P2(dist=741997),TPTE(dist=195596) chr21 10710591 10710591 A G het . 2 +intergenic TEKT4P2(dist=742318),TPTE(dist=195275) chr21 10710912 10710912 G C het . 2 +intergenic TEKT4P2(dist=742377),TPTE(dist=195216) chr21 10710971 10710971 A G het . 3 +intergenic TEKT4P2(dist=742382),TPTE(dist=195211) chr21 10710976 10710976 G T het . 3 +intergenic TEKT4P2(dist=742540),TPTE(dist=195053) chr21 10711134 10711134 C G het . 3 +intergenic TEKT4P2(dist=742566),TPTE(dist=195027) chr21 10711160 10711160 T C het . 3 +intergenic TEKT4P2(dist=742886),TPTE(dist=194707) chr21 10711480 10711480 C G het . 5 +intergenic TEKT4P2(dist=743960),TPTE(dist=193633) chr21 10712554 10712554 A G het . 7 +intergenic TEKT4P2(dist=744104),TPTE(dist=193489) chr21 10712698 10712698 T C het . 6 +intergenic TEKT4P2(dist=744124),TPTE(dist=193469) chr21 10712718 10712718 C T het . 7 +intergenic TEKT4P2(dist=744657),TPTE(dist=192936) chr21 10713251 10713251 C T het . 4 +intergenic TEKT4P2(dist=744668),TPTE(dist=192925) chr21 10713262 10713262 C T het . 4 +intergenic TEKT4P2(dist=745177),TPTE(dist=192416) chr21 10713771 10713771 G C het . 2 +intergenic TEKT4P2(dist=745520),TPTE(dist=192073) chr21 10714114 10714114 G A het . 4 +intergenic TEKT4P2(dist=745540),TPTE(dist=192053) chr21 10714134 10714134 C T het . 6 +intergenic TEKT4P2(dist=745576),TPTE(dist=192017) chr21 10714170 10714170 G T het . 4 +intergenic TEKT4P2(dist=745579),TPTE(dist=192014) chr21 10714173 10714173 G C het . 4 +intergenic TEKT4P2(dist=745637),TPTE(dist=191956) chr21 10714231 10714231 G C het . 6 +intergenic TEKT4P2(dist=745647),TPTE(dist=191946) chr21 10714241 10714241 T G het . 6 +intergenic TEKT4P2(dist=745684),TPTE(dist=191909) chr21 10714278 10714278 G A het . 6 +intergenic TEKT4P2(dist=745735),TPTE(dist=191858) chr21 10714329 10714329 C T het . 3 +intergenic TEKT4P2(dist=745909),TPTE(dist=191684) chr21 10714503 10714503 A C het . 2 +intergenic TEKT4P2(dist=746174),TPTE(dist=191419) chr21 10714768 10714768 C A het . 2 +intergenic TEKT4P2(dist=746200),TPTE(dist=191393) chr21 10714794 10714794 T C het . 3 +intergenic TEKT4P2(dist=746515),TPTE(dist=191078) chr21 10715109 10715109 C T het . 6 +intergenic TEKT4P2(dist=746516),TPTE(dist=191077) chr21 10715110 10715110 C T het . 6 +intergenic TEKT4P2(dist=746539),TPTE(dist=191054) chr21 10715133 10715133 G T het . 8 +intergenic TEKT4P2(dist=746557),TPTE(dist=191036) chr21 10715151 10715151 T A het . 7 +intergenic TEKT4P2(dist=746590),TPTE(dist=191003) chr21 10715184 10715184 G T het . 6 +intergenic TEKT4P2(dist=746593),TPTE(dist=191000) chr21 10715187 10715187 A C het . 6 +intergenic TEKT4P2(dist=746740),TPTE(dist=190853) chr21 10715334 10715334 T C het . 3 +intergenic TEKT4P2(dist=746756),TPTE(dist=190837) chr21 10715350 10715350 A G het . 2 +intergenic TEKT4P2(dist=746763),TPTE(dist=190830) chr21 10715357 10715357 A C het . 2 +intergenic TEKT4P2(dist=746765),TPTE(dist=190828) chr21 10715359 10715359 C T het . 2 +intergenic TEKT4P2(dist=746893),TPTE(dist=190700) chr21 10715487 10715487 C T het . 4 +intergenic TEKT4P2(dist=746895),TPTE(dist=190698) chr21 10715489 10715489 C G het . 3 +intergenic TEKT4P2(dist=747007),TPTE(dist=190586) chr21 10715601 10715601 A C het . 4 +intergenic TEKT4P2(dist=747191),TPTE(dist=190402) chr21 10715785 10715785 G C het . 3 +intergenic TEKT4P2(dist=747202),TPTE(dist=190391) chr21 10715796 10715796 C T het . 4 +intergenic TEKT4P2(dist=747214),TPTE(dist=190379) chr21 10715808 10715808 T C het . 5 +intergenic TEKT4P2(dist=747319),TPTE(dist=190274) chr21 10715913 10715913 C T het . 2 +intergenic TEKT4P2(dist=747478),TPTE(dist=190115) chr21 10716072 10716072 T A het . 3 +intergenic TEKT4P2(dist=747737),TPTE(dist=189856) chr21 10716331 10716331 C G het . 2 +intergenic TEKT4P2(dist=747870),TPTE(dist=189723) chr21 10716464 10716464 C A het . 4 +intergenic TEKT4P2(dist=748205),TPTE(dist=189388) chr21 10716799 10716799 C T het . 4 +intergenic TEKT4P2(dist=749104),TPTE(dist=188489) chr21 10717698 10717698 A T het . 6 +intergenic TEKT4P2(dist=749137),TPTE(dist=188456) chr21 10717731 10717731 A C het . 6 +intergenic TEKT4P2(dist=749701),TPTE(dist=187892) chr21 10718295 10718295 A T het . 4 +intergenic TEKT4P2(dist=749871),TPTE(dist=187722) chr21 10718465 10718465 G A het . 6 +intergenic TEKT4P2(dist=750224),TPTE(dist=187368) chr21 10718818 10718819 TT AC het . 2 +intergenic TEKT4P2(dist=750240),TPTE(dist=187353) chr21 10718834 10718834 T C het . 2 +intergenic TEKT4P2(dist=750435),TPTE(dist=187158) chr21 10719029 10719029 C G het . 2 +intergenic TEKT4P2(dist=750905),TPTE(dist=186688) chr21 10719499 10719499 A T het . 4 +intergenic TEKT4P2(dist=751591),TPTE(dist=186002) chr21 10720185 10720185 A T het . 5 +intergenic TEKT4P2(dist=751876),TPTE(dist=185717) chr21 10720470 10720470 G A het . 2 +intergenic TEKT4P2(dist=752111),TPTE(dist=185482) chr21 10720705 10720705 C T het . 2 +intergenic TEKT4P2(dist=752593),TPTE(dist=185000) chr21 10721187 10721187 G A het . 4 +intergenic TEKT4P2(dist=752999),TPTE(dist=184594) chr21 10721593 10721593 G A het . 3 +intergenic TEKT4P2(dist=753004),TPTE(dist=184589) chr21 10721598 10721598 C G het . 3 +intergenic TEKT4P2(dist=753223),TPTE(dist=184370) chr21 10721817 10721817 T C het . 5 +intergenic TEKT4P2(dist=753242),TPTE(dist=184351) chr21 10721836 10721836 G T het . 4 +intergenic TEKT4P2(dist=753599),TPTE(dist=183994) chr21 10722193 10722193 G A het . 2 +intergenic TEKT4P2(dist=753906),TPTE(dist=183687) chr21 10722500 10722500 G A het . 3 +intergenic TEKT4P2(dist=753908),TPTE(dist=183685) chr21 10722502 10722502 A G het . 3 +intergenic TEKT4P2(dist=753923),TPTE(dist=183670) chr21 10722517 10722517 C A het . 3 +intergenic TEKT4P2(dist=753929),TPTE(dist=183663) chr21 10722523 10722524 CA TG het . 3 +intergenic TEKT4P2(dist=754023),TPTE(dist=183570) chr21 10722617 10722617 T A het . 4 +intergenic TEKT4P2(dist=754062),TPTE(dist=183531) chr21 10722656 10722656 C A het . 4 +intergenic TEKT4P2(dist=754585),TPTE(dist=183008) chr21 10723179 10723179 C A het . 3 +intergenic TEKT4P2(dist=755423),TPTE(dist=182167) chr21 10724017 10724020 AGAG - het . 3 +intergenic TEKT4P2(dist=755432),TPTE(dist=182161) chr21 10724026 10724026 C A het . 3 +intergenic TEKT4P2(dist=755440),TPTE(dist=182153) chr21 10724034 10724034 G T het . 3 +intergenic TEKT4P2(dist=755475),TPTE(dist=182118) chr21 10724069 10724069 A G het . 3 +intergenic TEKT4P2(dist=755947),TPTE(dist=181646) chr21 10724541 10724541 C G het . 2 +intergenic TEKT4P2(dist=755953),TPTE(dist=181640) chr21 10724547 10724547 T C het . 2 +intergenic TEKT4P2(dist=755981),TPTE(dist=181612) chr21 10724575 10724575 C A het . 4 +intergenic TEKT4P2(dist=755983),TPTE(dist=181610) chr21 10724577 10724577 G T het . 4 +intergenic TEKT4P2(dist=756282),TPTE(dist=181311) chr21 10724876 10724876 G A het . 5 +intergenic TEKT4P2(dist=756302),TPTE(dist=181291) chr21 10724896 10724896 C T het . 7 +intergenic TEKT4P2(dist=756343),TPTE(dist=181250) chr21 10724937 10724937 G A het . 5 +intergenic TEKT4P2(dist=757255),TPTE(dist=180338) chr21 10725849 10725849 A C het . 2 +intergenic TEKT4P2(dist=757638),TPTE(dist=179955) chr21 10726232 10726232 G C het . 1 +intergenic TEKT4P2(dist=757642),TPTE(dist=179951) chr21 10726236 10726236 G A het . 1 +intergenic TEKT4P2(dist=759551),TPTE(dist=178042) chr21 10728145 10728145 A G het . 8 +intergenic TEKT4P2(dist=759562),TPTE(dist=178031) chr21 10728156 10728156 A C het . 6 +intergenic TEKT4P2(dist=759830),TPTE(dist=177763) chr21 10728424 10728424 G C het . 3 +intergenic TEKT4P2(dist=762378),TPTE(dist=175215) chr21 10730972 10730972 G A het . 2 +intergenic TEKT4P2(dist=764472),TPTE(dist=173121) chr21 10733066 10733066 G C het . 4 +intergenic TEKT4P2(dist=764506),TPTE(dist=173087) chr21 10733100 10733100 C T het . 3 +intergenic TEKT4P2(dist=764946),TPTE(dist=172647) chr21 10733540 10733540 T G het . 2 +intergenic TEKT4P2(dist=764995),TPTE(dist=172598) chr21 10733589 10733589 C A het . 3 +intergenic TEKT4P2(dist=765037),TPTE(dist=172556) chr21 10733631 10733631 G A het . 4 +intergenic TEKT4P2(dist=765661),TPTE(dist=171932) chr21 10734255 10734255 G A het . 1 +intergenic TEKT4P2(dist=766366),TPTE(dist=171227) chr21 10734960 10734960 A C het . 3 +intergenic TEKT4P2(dist=766376),TPTE(dist=171217) chr21 10734970 10734970 A T het . 3 +intergenic TEKT4P2(dist=766552),TPTE(dist=171041) chr21 10735146 10735146 C T het . 2 +intergenic TEKT4P2(dist=766559),TPTE(dist=171034) chr21 10735153 10735153 T A het . 2 +intergenic TEKT4P2(dist=767138),TPTE(dist=170455) chr21 10735732 10735732 A T het . 3 +intergenic TEKT4P2(dist=772769),TPTE(dist=164824) chr21 10741363 10741363 G T het . 2 +intergenic TEKT4P2(dist=773251),TPTE(dist=164342) chr21 10741845 10741845 A G het . 2 +intergenic TEKT4P2(dist=773424),TPTE(dist=164169) chr21 10742018 10742018 G A het . 3 +intergenic TEKT4P2(dist=773793),TPTE(dist=163800) chr21 10742387 10742387 G A het . 1 +intergenic TEKT4P2(dist=773802),TPTE(dist=163791) chr21 10742396 10742396 G C het . 1 +intergenic TEKT4P2(dist=773806),TPTE(dist=163787) chr21 10742400 10742400 G A het . 2 +intergenic TEKT4P2(dist=773848),TPTE(dist=163745) chr21 10742442 10742442 A C het . 2 +intergenic TEKT4P2(dist=773854),TPTE(dist=163739) chr21 10742448 10742448 T C het . 2 +intergenic TEKT4P2(dist=773866),TPTE(dist=163727) chr21 10742460 10742460 C A het . 2 +intergenic TEKT4P2(dist=774347),TPTE(dist=163246) chr21 10742941 10742941 A G het . 1 +intergenic TEKT4P2(dist=774446),TPTE(dist=163147) chr21 10743040 10743040 C A het . 1 +intergenic TEKT4P2(dist=774541),TPTE(dist=163052) chr21 10743135 10743135 G C het . 4 +intergenic TEKT4P2(dist=774589),TPTE(dist=163004) chr21 10743183 10743183 C G het . 2 +intergenic TEKT4P2(dist=775751),TPTE(dist=161842) chr21 10744345 10744345 T C het . 4 +intergenic TEKT4P2(dist=775836),TPTE(dist=161757) chr21 10744430 10744430 G A het . 4 +intergenic TEKT4P2(dist=775846),TPTE(dist=161747) chr21 10744440 10744440 - T het . 4 +intergenic TEKT4P2(dist=775895),TPTE(dist=161698) chr21 10744489 10744489 C A het . 3 +intergenic TEKT4P2(dist=775899),TPTE(dist=161694) chr21 10744493 10744493 G T het . 3 +intergenic TEKT4P2(dist=776905),TPTE(dist=160688) chr21 10745499 10745499 A G het . 3 +intergenic TEKT4P2(dist=777183),TPTE(dist=160410) chr21 10745777 10745777 G T het . 2 +intergenic TEKT4P2(dist=777344),TPTE(dist=160249) chr21 10745938 10745938 T C het . 2 +intergenic TEKT4P2(dist=778680),TPTE(dist=158913) chr21 10747274 10747274 A G het . 2 +intergenic TEKT4P2(dist=780596),TPTE(dist=156997) chr21 10749190 10749190 A C het . 2 +intergenic TEKT4P2(dist=780952),TPTE(dist=156641) chr21 10749546 10749546 G C het . 3 +intergenic TEKT4P2(dist=781981),TPTE(dist=155612) chr21 10750575 10750575 T C het . 3 +intergenic TEKT4P2(dist=781986),TPTE(dist=155607) chr21 10750580 10750580 G T het . 3 +intergenic TEKT4P2(dist=782135),TPTE(dist=155458) chr21 10750729 10750729 G A het . 3 +intergenic TEKT4P2(dist=782145),TPTE(dist=155447) chr21 10750739 10750740 TG CA het . 3 +intergenic TEKT4P2(dist=783107),TPTE(dist=154485) chr21 10751701 10751702 CG TT het . 1 +intergenic TEKT4P2(dist=783594),TPTE(dist=153999) chr21 10752188 10752188 G T het . 6 +intergenic TEKT4P2(dist=783597),TPTE(dist=153996) chr21 10752191 10752191 C T het . 6 +intergenic TEKT4P2(dist=783747),TPTE(dist=153846) chr21 10752341 10752341 G A het . 2 +intergenic TEKT4P2(dist=783776),TPTE(dist=153817) chr21 10752370 10752370 C T het . 3 +intergenic TEKT4P2(dist=783809),TPTE(dist=153784) chr21 10752403 10752403 T C het . 4 +intergenic TEKT4P2(dist=783832),TPTE(dist=153761) chr21 10752426 10752426 G T het . 2 +intergenic TEKT4P2(dist=783903),TPTE(dist=153690) chr21 10752497 10752497 A G het . 3 +intergenic TEKT4P2(dist=783929),TPTE(dist=153664) chr21 10752523 10752523 A C het . 4 +intergenic TEKT4P2(dist=783940),TPTE(dist=153653) chr21 10752534 10752534 A G het . 4 +intergenic TEKT4P2(dist=783972),TPTE(dist=153621) chr21 10752566 10752566 G A het . 3 +intergenic TEKT4P2(dist=784599),TPTE(dist=152994) chr21 10753193 10753193 T C het . 4 +intergenic TEKT4P2(dist=784610),TPTE(dist=152983) chr21 10753204 10753204 G A het . 4 +intergenic TEKT4P2(dist=785702),TPTE(dist=151891) chr21 10754296 10754296 A C het . 3 +intergenic TEKT4P2(dist=785711),TPTE(dist=151882) chr21 10754305 10754305 T C het . 3 +intergenic TEKT4P2(dist=786951),TPTE(dist=150642) chr21 10755545 10755545 C T het . 5 +intergenic TEKT4P2(dist=786988),TPTE(dist=150605) chr21 10755582 10755582 A C het . 3 +intergenic TEKT4P2(dist=787058),TPTE(dist=150535) chr21 10755652 10755652 C G het . 2 +intergenic TEKT4P2(dist=787539),TPTE(dist=150054) chr21 10756133 10756133 C A het . 4 +intergenic TEKT4P2(dist=787591),TPTE(dist=150002) chr21 10756185 10756185 G T het . 2 +intergenic TEKT4P2(dist=787594),TPTE(dist=149999) chr21 10756188 10756188 C T het . 2 +intergenic TEKT4P2(dist=789850),TPTE(dist=147743) chr21 10758444 10758444 T A het . 4 +intergenic TEKT4P2(dist=790132),TPTE(dist=147461) chr21 10758726 10758726 T A het . 3 +intergenic TEKT4P2(dist=790160),TPTE(dist=147433) chr21 10758754 10758754 T C het . 3 +intergenic TEKT4P2(dist=790517),TPTE(dist=147076) chr21 10759111 10759111 T C het . 4 +intergenic TEKT4P2(dist=790539),TPTE(dist=147054) chr21 10759133 10759133 C A het . 5 +intergenic TEKT4P2(dist=790546),TPTE(dist=147047) chr21 10759140 10759140 T C het . 5 +intergenic TEKT4P2(dist=790904),TPTE(dist=146689) chr21 10759498 10759498 T C het . 1 +intergenic TEKT4P2(dist=791208),TPTE(dist=146385) chr21 10759802 10759802 A C het . 3 +intergenic TEKT4P2(dist=791509),TPTE(dist=146084) chr21 10760103 10760103 A T het . 2 +intergenic TEKT4P2(dist=792043),TPTE(dist=145549) chr21 10760637 10760638 TG CA het . 3 +intergenic TEKT4P2(dist=792110),TPTE(dist=145483) chr21 10760704 10760704 T A het . 2 +intergenic TEKT4P2(dist=792179),TPTE(dist=145414) chr21 10760773 10760773 G A het . 4 +intergenic TEKT4P2(dist=792413),TPTE(dist=145180) chr21 10761007 10761007 T A het . 4 +intergenic TEKT4P2(dist=792427),TPTE(dist=145166) chr21 10761021 10761021 T C het . 4 +intergenic TEKT4P2(dist=792430),TPTE(dist=145163) chr21 10761024 10761024 A G het . 4 +intergenic TEKT4P2(dist=793026),TPTE(dist=144567) chr21 10761620 10761620 G A het . 3 +intergenic TEKT4P2(dist=793233),TPTE(dist=144360) chr21 10761827 10761827 G A het . 2 +intergenic TEKT4P2(dist=793241),TPTE(dist=144352) chr21 10761835 10761835 - T het . 2 +intergenic TEKT4P2(dist=793262),TPTE(dist=144331) chr21 10761856 10761856 A T het . 1 +intergenic TEKT4P2(dist=793968),TPTE(dist=143625) chr21 10762562 10762562 C A het . 2 +intergenic TEKT4P2(dist=794259),TPTE(dist=143334) chr21 10762853 10762853 G A het . 1 +intergenic TEKT4P2(dist=794843),TPTE(dist=142750) chr21 10763437 10763437 T G het . 3 +intergenic TEKT4P2(dist=794858),TPTE(dist=142735) chr21 10763452 10763452 T C het . 2 +intergenic TEKT4P2(dist=794862),TPTE(dist=142731) chr21 10763456 10763456 C A het . 2 +intergenic TEKT4P2(dist=794922),TPTE(dist=142671) chr21 10763516 10763516 G A het . 3 +intergenic TEKT4P2(dist=794936),TPTE(dist=142657) chr21 10763530 10763530 T C het . 3 +intergenic TEKT4P2(dist=794939),TPTE(dist=142654) chr21 10763533 10763533 C A het . 3 +intergenic TEKT4P2(dist=795082),TPTE(dist=142511) chr21 10763676 10763676 T G het . 3 +intergenic TEKT4P2(dist=795090),TPTE(dist=142503) chr21 10763684 10763684 T C het . 4 +intergenic TEKT4P2(dist=795137),TPTE(dist=142456) chr21 10763731 10763731 C T het . 3 +intergenic TEKT4P2(dist=795308),TPTE(dist=142285) chr21 10763902 10763902 T C het . 2 +intergenic TEKT4P2(dist=795350),TPTE(dist=142243) chr21 10763944 10763944 G A het . 4 +intergenic TEKT4P2(dist=796386),TPTE(dist=141207) chr21 10764980 10764980 G A het . 2 +intergenic TEKT4P2(dist=796620),TPTE(dist=140973) chr21 10765214 10765214 C T het . 3 +intergenic TEKT4P2(dist=796648),TPTE(dist=140945) chr21 10765242 10765242 C T het . 3 +intergenic TEKT4P2(dist=796658),TPTE(dist=140935) chr21 10765252 10765252 G A het . 2 +intergenic TEKT4P2(dist=796735),TPTE(dist=140858) chr21 10765329 10765329 T C het . 5 +intergenic TEKT4P2(dist=796784),TPTE(dist=140809) chr21 10765378 10765378 G C het . 3 +intergenic TEKT4P2(dist=796792),TPTE(dist=140801) chr21 10765386 10765386 A C het . 2 +intergenic TEKT4P2(dist=796943),TPTE(dist=140650) chr21 10765537 10765537 C G het . 3 +intergenic TEKT4P2(dist=796945),TPTE(dist=140648) chr21 10765539 10765539 C G het . 3 +intergenic TEKT4P2(dist=797071),TPTE(dist=140522) chr21 10765665 10765665 G A het . 3 +intergenic TEKT4P2(dist=797082),TPTE(dist=140511) chr21 10765676 10765676 C T het . 4 +intergenic TEKT4P2(dist=797688),TPTE(dist=139905) chr21 10766282 10766282 C G het . 2 +intergenic TEKT4P2(dist=804235),TPTE(dist=133358) chr21 10772829 10772829 - GAA het . 2 +intergenic TEKT4P2(dist=804805),TPTE(dist=132788) chr21 10773399 10773399 T A het . 4 +intergenic TEKT4P2(dist=809877),TPTE(dist=127716) chr21 10778471 10778471 T A het . 2 +intergenic TEKT4P2(dist=809879),TPTE(dist=127714) chr21 10778473 10778473 G A het . 2 +intergenic TEKT4P2(dist=809902),TPTE(dist=127690) chr21 10778496 10778497 CA TT het . 2 +intergenic TEKT4P2(dist=809910),TPTE(dist=127683) chr21 10778504 10778504 G C het . 2 +intergenic TEKT4P2(dist=811051),TPTE(dist=126542) chr21 10779645 10779645 G - het . 2 +intergenic TEKT4P2(dist=813843),TPTE(dist=123750) chr21 10782437 10782437 G T het . 2 +intergenic TEKT4P2(dist=823489),TPTE(dist=114104) chr21 10792083 10792083 T G het . 3 +intergenic TEKT4P2(dist=826519),TPTE(dist=111074) chr21 10795113 10795113 T C het . 2 +intergenic TEKT4P2(dist=827026),TPTE(dist=110567) chr21 10795620 10795620 G T het . 2 +intergenic TEKT4P2(dist=827951),TPTE(dist=109642) chr21 10796545 10796545 A T het . 5 +intergenic TEKT4P2(dist=829078),TPTE(dist=108515) chr21 10797672 10797672 A G het . 1 +intergenic TEKT4P2(dist=829413),TPTE(dist=108180) chr21 10798007 10798007 G A het . 2 +intergenic TEKT4P2(dist=829422),TPTE(dist=108171) chr21 10798016 10798016 G T het . 2 +intergenic TEKT4P2(dist=829433),TPTE(dist=108160) chr21 10798027 10798027 G C het . 2 +intergenic TEKT4P2(dist=829436),TPTE(dist=108157) chr21 10798030 10798030 A T het . 2 +intergenic TEKT4P2(dist=829631),TPTE(dist=107962) chr21 10798225 10798225 A T het . 2 +intergenic TEKT4P2(dist=829803),TPTE(dist=107790) chr21 10798397 10798397 G A het . 4 +intergenic TEKT4P2(dist=829883),TPTE(dist=107710) chr21 10798477 10798477 G T het . 3 +intergenic TEKT4P2(dist=830136),TPTE(dist=107457) chr21 10798730 10798730 T C het . 2 +intergenic TEKT4P2(dist=831103),TPTE(dist=106490) chr21 10799697 10799697 T G het . 1 +intergenic TEKT4P2(dist=831169),TPTE(dist=106424) chr21 10799763 10799763 G T het . 2 +intergenic TEKT4P2(dist=832842),TPTE(dist=104751) chr21 10801436 10801436 A G het . 2 +intergenic TEKT4P2(dist=833310),TPTE(dist=104283) chr21 10801904 10801904 G A het . 3 +intergenic TEKT4P2(dist=834058),TPTE(dist=103535) chr21 10802652 10802652 T G het . 2 +intergenic TEKT4P2(dist=837840),TPTE(dist=99753) chr21 10806434 10806434 G A het . 3 +intergenic TEKT4P2(dist=838060),TPTE(dist=99533) chr21 10806654 10806654 G A het . 3 +intergenic TEKT4P2(dist=838066),TPTE(dist=99527) chr21 10806660 10806660 T A het . 3 +intergenic TEKT4P2(dist=838074),TPTE(dist=99519) chr21 10806668 10806668 G A het . 3 +intergenic TEKT4P2(dist=838078),TPTE(dist=99515) chr21 10806672 10806672 C G het . 3 +intergenic TEKT4P2(dist=838083),TPTE(dist=99510) chr21 10806677 10806677 G C het . 2 +intergenic TEKT4P2(dist=838803),TPTE(dist=98790) chr21 10807397 10807397 G A het . 2 +intergenic TEKT4P2(dist=843013),TPTE(dist=94580) chr21 10811607 10811607 G A het . 3 +intergenic TEKT4P2(dist=843262),TPTE(dist=94331) chr21 10811856 10811856 T G het . 3 +intergenic TEKT4P2(dist=844801),TPTE(dist=92792) chr21 10813395 10813395 C T het . 2 +intergenic TEKT4P2(dist=851190),TPTE(dist=86403) chr21 10819784 10819784 C T het . 2 +intergenic TEKT4P2(dist=852460),TPTE(dist=85133) chr21 10821054 10821054 G A het . 3 +intergenic TEKT4P2(dist=852645),TPTE(dist=84948) chr21 10821239 10821239 T C het . 2 +intergenic TEKT4P2(dist=853142),TPTE(dist=84450) chr21 10821736 10821737 GA - het . 3 +intergenic TEKT4P2(dist=856370),TPTE(dist=81223) chr21 10824964 10824964 A G het . 3 +intergenic TEKT4P2(dist=856382),TPTE(dist=81211) chr21 10824976 10824976 G A het . 3 +intergenic TEKT4P2(dist=860803),TPTE(dist=76789) chr21 10829397 10829398 GG - het . 3 +intergenic TEKT4P2(dist=860806),TPTE(dist=76785) chr21 10829400 10829402 ATG - het . 3 +intergenic TEKT4P2(dist=864469),TPTE(dist=73124) chr21 10833063 10833063 T G het . 2 +intergenic TEKT4P2(dist=872660),TPTE(dist=64933) chr21 10841254 10841254 C A het . 2 +intergenic TEKT4P2(dist=872801),TPTE(dist=64792) chr21 10841395 10841395 G A het . 2 +intergenic TEKT4P2(dist=872816),TPTE(dist=64777) chr21 10841410 10841410 C T het . 2 +intergenic TEKT4P2(dist=873421),TPTE(dist=64172) chr21 10842015 10842015 T C het . 2 +intergenic TEKT4P2(dist=888833),TPTE(dist=48760) chr21 10857427 10857427 A T het . 2 +intergenic TEKT4P2(dist=889162),TPTE(dist=48431) chr21 10857756 10857756 C G het . 2 +intergenic TEKT4P2(dist=894005),TPTE(dist=43588) chr21 10862599 10862599 C T het . 17 +intergenic TEKT4P2(dist=894024),TPTE(dist=43569) chr21 10862618 10862618 T C het . 18 +intergenic TEKT4P2(dist=894252),TPTE(dist=43341) chr21 10862846 10862846 A T het . 3 +intergenic TEKT4P2(dist=894353),TPTE(dist=43240) chr21 10862947 10862947 G A het . 11 +intergenic TEKT4P2(dist=905181),TPTE(dist=32412) chr21 10873775 10873775 G A het . 3 +intergenic TEKT4P2(dist=913708),TPTE(dist=23885) chr21 10882302 10882302 C A het . 2 +intergenic TEKT4P2(dist=916176),TPTE(dist=21417) chr21 10884770 10884770 G A het . 7 +intergenic TEKT4P2(dist=916191),TPTE(dist=21402) chr21 10884785 10884785 C T het . 5 +intergenic TEKT4P2(dist=919922),TPTE(dist=17671) chr21 10888516 10888516 A G het . 2 +intergenic TEKT4P2(dist=920425),TPTE(dist=17168) chr21 10889019 10889019 T A het . 5 +intergenic TEKT4P2(dist=923256),TPTE(dist=14337) chr21 10891850 10891850 A T het . 2 +intergenic TEKT4P2(dist=926187),TPTE(dist=11406) chr21 10894781 10894781 T C het . 3 +intergenic TEKT4P2(dist=929616),TPTE(dist=7977) chr21 10898210 10898210 A C het . 2 +intergenic TEKT4P2(dist=930418),TPTE(dist=7175) chr21 10899012 10899012 C T het . 6 +intergenic TEKT4P2(dist=930579),TPTE(dist=7014) chr21 10899173 10899173 T C het . 22 +intergenic TEKT4P2(dist=930741),TPTE(dist=6852) chr21 10899335 10899335 C T het . 10 +intronic TPTE chr21 10908767 10908767 C T het . 10 +intronic TPTE chr21 10910018 10910019 TT - het . 11 +exonic TPTE chr21 10910340 10910340 C G het . 20 +exonic TPTE chr21 10910347 10910347 A G het . 18 +intronic TPTE chr21 10914595 10914595 T C het . 6 +intronic TPTE chr21 10916322 10916322 G A het . 13 +intronic TPTE chr21 10919969 10919969 C G het . 8 +intronic TPTE chr21 10920041 10920041 C T het . 16 +exonic TPTE chr21 10920098 10920098 T C het . 7 +intronic TPTE chr21 10922786 10922786 C A het . 10 +intronic TPTE chr21 10942036 10942036 T A het . 17 +intronic TPTE chr21 10942601 10942601 C T het . 21 +intronic TPTE chr21 10942842 10942842 G C het . 28 +exonic TPTE chr21 10942925 10942927 CTT - het . 23 +intronic TPTE chr21 10944480 10944480 G A het . 8 +intronic TPTE chr21 10951161 10951161 T C het . 8 +intronic TPTE chr21 10969606 10969606 G A het . 3 +intronic TPTE chr21 10971453 10971453 T C het . 4 +intergenic TPTE(dist=5051),BAGE4(dist=24848) chr21 10995994 10995994 - G het . 8 +intergenic TPTE(dist=5082),BAGE4(dist=24817) chr21 10996025 10996025 C T het . 7 +intergenic TPTE(dist=5398),BAGE4(dist=24501) chr21 10996341 10996341 A G het . 4 +UTR3 BAGE2(NM_182482:c.*1262G>A),BAGE3(NM_182481:c.*1262G>A),BAGE4(NM_181704:c.*1357G>A),BAGE5(NM_182484:c.*1357G>A) chr21 11021125 11021125 C T het . 17 +UTR3 BAGE2(NM_182482:c.*1223_*1224insT),BAGE3(NM_182481:c.*1223_*1224insT),BAGE4(NM_181704:c.*1318_*1319insT),BAGE5(NM_182484:c.*1318_*1319insT) chr21 11021163 11021163 - A het . 28 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11022967 11022967 T C het . 2 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11022984 11022984 G A het . 2 +splicing BAGE2(NM_182482:exon7:c.1388+1G>-,NM_182482:exon7:UTR3),BAGE3(NM_182481:exon7:c.1388+1G>-,NM_182481:exon7:UTR3) chr21 11029597 11029597 C - het . 9 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11033693 11033693 G A het . 5 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11033715 11033715 G A het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11034461 11034461 C T het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11034664 11034667 AAAG - het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11034754 11034754 T C het . 4 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11035725 11035725 A G het . 5 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11036785 11036785 C A het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11036816 11036816 G A het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11037279 11037279 C T het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11038164 11038164 A G het . 2 +UTR3 BAGE2(NM_182482:c.*864C>T),BAGE3(NM_182481:c.*864C>T),BAGE4(NM_181704:c.*1079C>T),BAGE5(NM_182484:c.*1079C>T) chr21 11038802 11038802 G A het . 14 +UTR3 BAGE2(NM_182482:c.*823C>G),BAGE3(NM_182481:c.*823C>G),BAGE4(NM_181704:c.*1038C>G),BAGE5(NM_182484:c.*1038C>G) chr21 11038843 11038843 G C het . 5 +UTR3 BAGE2(NM_182482:c.*587G>T),BAGE3(NM_182481:c.*587G>T),BAGE4(NM_181704:c.*802G>T),BAGE5(NM_182484:c.*802G>T) chr21 11039079 11039079 C A het . 10 +UTR3 BAGE2(NM_182482:c.*524A>T),BAGE3(NM_182481:c.*524A>T),BAGE4(NM_181704:c.*739A>T),BAGE5(NM_182484:c.*739A>T) chr21 11039142 11039142 T A het . 66 +UTR3 BAGE2(NM_182482:c.*514T>G),BAGE3(NM_182481:c.*514T>G),BAGE4(NM_181704:c.*729T>G),BAGE5(NM_182484:c.*729T>G) chr21 11039152 11039152 A C het . 69 +UTR3 BAGE2(NM_182482:c.*478T>C),BAGE3(NM_182481:c.*478T>C),BAGE4(NM_181704:c.*693T>C),BAGE5(NM_182484:c.*693T>C) chr21 11039188 11039188 A G het . 56 +UTR3 BAGE2(NM_182482:c.*368G>A),BAGE3(NM_182481:c.*368G>A),BAGE4(NM_181704:c.*583G>A),BAGE5(NM_182484:c.*583G>A) chr21 11039298 11039298 C T het . 11 +UTR3 BAGE2(NM_182482:c.*322C>T),BAGE3(NM_182481:c.*322C>T),BAGE4(NM_181704:c.*537C>T),BAGE5(NM_182484:c.*537C>T) chr21 11039344 11039344 G A het . 20 +UTR3 BAGE2(NM_182482:c.*272G>A),BAGE3(NM_182481:c.*272G>A),BAGE4(NM_181704:c.*487G>A),BAGE5(NM_182484:c.*487G>A) chr21 11039394 11039394 C T het . 40 +UTR3 BAGE2(NM_182482:c.*260A>G),BAGE3(NM_182481:c.*260A>G),BAGE4(NM_181704:c.*475A>G),BAGE5(NM_182484:c.*475A>G) chr21 11039406 11039406 T C het . 37 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11039441 11039441 G C het . 29 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11039450 11039450 A G het . 25 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11039661 11039661 A G het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11042597 11042597 A G het . 1 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11042711 11042711 - A het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11042717 11042717 A G het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11043021 11043021 T - het . 5 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11043037 11043039 TGC - het . 5 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11043127 11043127 G A het . 2 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11043204 11043204 T G het . 2 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11043637 11043637 - A het . 2 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11044315 11044315 A G het . 2 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11045280 11045280 T C het . 2 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11045286 11045286 G A het . 2 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11047253 11047253 A T het . 5 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11047371 11047371 A G het . 19 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11047441 11047441 T C het . 30 +UTR3 BAGE2(NM_182482:c.*221C>T),BAGE3(NM_182481:c.*221C>T),BAGE4(NM_181704:c.*436C>T),BAGE5(NM_182484:c.*436C>T) chr21 11047496 11047496 G A het . 43 +UTR3 BAGE2(NM_182482:c.*135G>A),BAGE3(NM_182481:c.*135G>A),BAGE4(NM_181704:c.*350G>A),BAGE5(NM_182484:c.*350G>A) chr21 11047582 11047582 C T het . 19 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11048287 11048287 G A het . 2 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11049125 11049125 G A het . 2 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11049143 11049143 C T het . 2 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11053166 11053166 G A het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11054055 11054055 G T het . 1 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11054060 11054060 A G het . 1 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11056147 11056147 C A het . 12 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11056325 11056325 A G het . 7 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11056356 11056356 T G het . 4 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11056402 11056402 G A het . 4 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11056516 11056516 T C het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11057296 11057296 G T het . 4 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11057305 11057305 - G het . 2 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11057448 11057448 T G het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11057451 11057451 C G het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11057616 11057616 C T het . 5 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11057723 11057723 T G het . 3 +intronic BAGE2,BAGE3,BAGE4,BAGE5 chr21 11057751 11057751 T G het . 4 +UTR3 BAGE(NM_001187:c.*573T>A) chr21 11057855 11057855 A T het . 7 +UTR3 BAGE(NM_001187:c.*562G>A) chr21 11057866 11057866 C T het . 4 +UTR3 BAGE(NM_001187:c.*540A>T) chr21 11057888 11057888 T A het . 2 +UTR3 BAGE(NM_001187:c.*420C>G) chr21 11058008 11058008 G C het . 13 +UTR3 BAGE(NM_001187:c.*403A>G) chr21 11058025 11058025 T C het . 11 +UTR3 BAGE(NM_001187:c.*385T>A) chr21 11058043 11058043 A T het . 10 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11058683 11058683 C T het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11059207 11059207 A G het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11059244 11059244 T C het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11059845 11059845 C T het . 9 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11059849 11059849 G T het . 8 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11059877 11059877 T C het . 7 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11060193 11060193 T G het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11060945 11060945 T C het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11061118 11061118 C T het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11061196 11061196 C G het . 5 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11061213 11061214 AA - het . 6 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11062005 11062005 G A het . 6 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11062711 11062711 G A het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11063998 11063998 A G het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11064280 11064280 T G het . 1 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11064690 11064690 C G het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11064806 11064806 G A het . 5 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11065270 11065270 G A het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11065351 11065351 T G het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11065358 11065358 G A het . 1 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11065702 11065702 - A het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11066440 11066440 G A het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11068104 11068104 G A het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11068108 11068108 C T het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11068726 11068726 T C het . 1 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11068800 11068800 T C het . 1 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11068896 11068896 C T het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11069664 11069664 C T het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11069683 11069683 A T het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11070631 11070631 C A het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11071061 11071061 A G het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11071091 11071091 G A het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11071211 11071211 A G het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11071215 11071216 AG - het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11071215 11071215 A G het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11071220 11071220 T C het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11071398 11071398 C T het . 6 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11072651 11072651 A G het . 13 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11072669 11072669 A G het . 11 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11072692 11072692 T A het . 5 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11072707 11072707 - G het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11072716 11072716 A C het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11072861 11072861 G A het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11073988 11073988 C A het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11074019 11074019 - TAAG het . 5 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11076010 11076010 T C het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11077205 11077205 G A het . 5 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11077229 11077229 A C het . 5 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11077530 11077530 C A het . 1 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11077555 11077555 - AAAT het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11077915 11077916 CA AG het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11078062 11078062 T A het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11078071 11078071 C A het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11078197 11078197 G T het . 5 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11078236 11078236 G A het . 5 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11078268 11078268 G A het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11078413 11078413 C T het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11078465 11078465 G T het . 8 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11078489 11078489 T A het . 8 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11078540 11078540 A T het . 5 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11078739 11078739 C A het . 5 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11079932 11079932 G A het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11079933 11079933 C T het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11080200 11080200 T C het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11080276 11080276 A G het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11080341 11080341 G A het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11080450 11080450 A T het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11080455 11080455 G A het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11080666 11080667 AC - het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11080693 11080693 A G het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11081690 11081690 G A het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11081697 11081697 G T het . 6 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11081748 11081748 C T het . 7 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11082334 11082334 G A het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11082639 11082639 T C het . 5 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11083325 11083325 C G het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11084916 11084916 G C het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11084919 11084920 TG - het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11087229 11087229 - A het . 4 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11088208 11088208 A C het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11088778 11088778 A G het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11089518 11089518 - A het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11090883 11090883 T C het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11092162 11092164 TTG - het . 8 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11092211 11092211 G A het . 6 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11092677 11092677 A G het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11093820 11093820 C T het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11094409 11094409 C - het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11094833 11094833 C T het . 6 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11094872 11094872 C T het . 9 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11094909 11094909 C G het . 6 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11095511 11095512 AT TC het . 3 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11097719 11097719 A G het . 2 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11098626 11098626 G A het . 6 +intronic BAGE,BAGE2,BAGE3,BAGE4,BAGE5 chr21 11098674 11098674 T C het . 21 +intergenic BAGE(dist=25278),NONE(dist=NONE) chr21 11124215 11124215 T C het . 2 +intergenic BAGE(dist=33047),NONE(dist=NONE) chr21 11131984 11131984 C A het . 3 +intergenic BAGE(dist=33049),NONE(dist=NONE) chr21 11131986 11131986 A G het . 3 +intergenic BAGE(dist=33911),NONE(dist=NONE) chr21 11132848 11132848 A C het . 2 +intergenic BAGE(dist=49819),NONE(dist=NONE) chr21 11148756 11148757 AC GT het . 2 +intergenic BAGE(dist=50452),NONE(dist=NONE) chr21 11149389 11149389 T C het . 3 +intergenic BAGE(dist=50472),NONE(dist=NONE) chr21 11149409 11149409 C G het . 4 +intergenic BAGE(dist=50503),NONE(dist=NONE) chr21 11149440 11149440 T A het . 5 +intergenic BAGE(dist=51041),NONE(dist=NONE) chr21 11149978 11149978 C T het . 3 +intergenic BAGE(dist=51075),NONE(dist=NONE) chr21 11150012 11150012 C T het . 3 +intergenic BAGE(dist=52664),NONE(dist=NONE) chr21 11151601 11151601 C T het . 3 +intergenic BAGE(dist=52987),NONE(dist=NONE) chr21 11151924 11151924 A G het . 5 +intergenic BAGE(dist=81871),NONE(dist=NONE) chr21 11180808 11180808 T C het . 8 +intergenic BAGE(dist=82080),NONE(dist=NONE) chr21 11181017 11181017 A G het . 27 +intergenic BAGE(dist=82175),NONE(dist=NONE) chr21 11181112 11181112 C G het . 23 +intergenic BAGE(dist=82573),NONE(dist=NONE) chr21 11181510 11181510 A T het . 34 +intergenic BAGE(dist=82651),NONE(dist=NONE) chr21 11181588 11181588 T C het . 44 +intergenic BAGE(dist=82708),NONE(dist=NONE) chr21 11181645 11181645 G A het . 22 +intergenic BAGE(dist=82760),NONE(dist=NONE) chr21 11181697 11181697 G T het . 23 +intergenic BAGE(dist=82762),NONE(dist=NONE) chr21 11181699 11181699 C G het . 23 +intergenic BAGE(dist=82803),NONE(dist=NONE) chr21 11181740 11181740 A G het . 33 +intergenic BAGE(dist=82839),NONE(dist=NONE) chr21 11181776 11181776 C T het . 21 +intergenic BAGE(dist=87340),NONE(dist=NONE) chr21 11186277 11186277 A - het . 17 +intergenic BAGE(dist=87409),NONE(dist=NONE) chr21 11186346 11186346 A C het . 28 +intergenic BAGE(dist=87414),NONE(dist=NONE) chr21 11186351 11186351 G C het . 32 +intergenic BAGE(dist=87517),NONE(dist=NONE) chr21 11186454 11186457 TTAG - het . 14 +intergenic BAGE(dist=87526),NONE(dist=NONE) chr21 11186463 11186463 A G het . 12 +intergenic BAGE(dist=87710),NONE(dist=NONE) chr21 11186647 11186647 T A het . 7 +intergenic BAGE(dist=87713),NONE(dist=NONE) chr21 11186650 11186650 C T het . 7 +intergenic BAGE(dist=87723),NONE(dist=NONE) chr21 11186660 11186660 A G het . 7 +intergenic BAGE(dist=87729),NONE(dist=NONE) chr21 11186666 11186666 A G het . 7 +intergenic BAGE(dist=87796),NONE(dist=NONE) chr21 11186733 11186733 T A het . 5 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=60689) chr21 14349798 14349798 G A het . 1 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=60676) chr21 14349811 14349811 T C het . 1 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=59750) chr21 14350737 14350737 T G het . 4 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=59296) chr21 14351191 14351191 G A het . 2 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=56374) chr21 14354113 14354113 G T het . 1 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=56361) chr21 14354126 14354126 T A het . 1 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=56346) chr21 14354141 14354141 G T het . 1 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=51971) chr21 14358516 14358516 G A het . 4 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=51201) chr21 14359286 14359286 C T het . 4 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=50851) chr21 14359636 14359636 C T het . 2 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=48613) chr21 14361874 14361874 C T het . 3 +intergenic NONE(dist=NONE),ANKRD30BP2(dist=47580) chr21 14362907 14362907 C G het . 3 +ncRNA_exonic ANKRD30BP2 chr21 14410569 14410569 G T het . 6 +ncRNA_intronic ANKRD30BP2 chr21 14414959 14414959 C T het . 2 +intergenic ANKRD30BP2(dist=144988),MIR3156-3(dist=143146) chr21 14635559 14635559 C T het . 2 +intergenic ANKRD30BP2(dist=165703),MIR3156-3(dist=122431) chr21 14656274 14656274 C T het . 9 +intergenic ANKRD30BP2(dist=166198),MIR3156-3(dist=121936) chr21 14656769 14656769 T C het . 1 +intergenic ANKRD30BP2(dist=265908),MIR3156-3(dist=22226) chr21 14756479 14756479 G A het . 4 +intergenic ANKRD30BP2(dist=267945),MIR3156-3(dist=20189) chr21 14758516 14758516 T A het . 4 +intergenic ANKRD30BP2(dist=268373),MIR3156-3(dist=19761) chr21 14758944 14758944 T A het . 4 +intergenic ANKRD30BP2(dist=277772),MIR3156-3(dist=10362) chr21 14768343 14768343 A G het . 9 +intergenic ANKRD30BP2(dist=277955),MIR3156-3(dist=10179) chr21 14768526 14768526 G A het . 4 +intergenic ANKRD30BP2(dist=281240),MIR3156-3(dist=6894) chr21 14771811 14771811 A G het . 15 +intergenic ANKRD30BP2(dist=284514),MIR3156-3(dist=3620) chr21 14775085 14775085 C G het . 2 +downstream MIR3156-3(dist=948) chr21 14777757 14777757 T - het . 10 +intergenic MIR3156-3(dist=2097),LINC01674(dist=137476) chr21 14780878 14780878 C T het . 4 +intergenic MIR3156-3(dist=6852),LINC01674(dist=132721) chr21 14785633 14785633 G T het . 2 +intergenic MIR3156-3(dist=7018),LINC01674(dist=132555) chr21 14785799 14785799 G T het . 12 +intergenic MIR3156-3(dist=16694),LINC01674(dist=122879) chr21 14795475 14795475 G A het . 14 +intergenic MIR3156-3(dist=16927),LINC01674(dist=122646) chr21 14795708 14795708 G A het . 2 +intergenic MIR3156-3(dist=19670),LINC01674(dist=119903) chr21 14798451 14798451 A G het . 6 +intergenic MIR3156-3(dist=120772),LINC01674(dist=18801) chr21 14899553 14899553 A G het . 2 +intergenic LINC01674(dist=26157),POTED(dist=25560) chr21 14956938 14956938 C G het . 2 +intergenic CYP4F29P(dist=27310),LOC110091776(dist=33774) chr21 15247995 15247995 T G het . 2 +intergenic CYP4F29P(dist=27316),LOC110091776(dist=33768) chr21 15248001 15248001 C T het . 2 +ncRNA_intronic LOC110091776 chr21 15289252 15289252 C T het . 11 +ncRNA_intronic LOC110091776 chr21 15289273 15289273 T C het . 8 +ncRNA_intronic LOC110091776 chr21 15289358 15289358 C T het . 3 +upstream LOC110091776(dist=355) chr21 15306555 15306555 T - het . 7 +intergenic LOC110091776(dist=3968),ANKRD20A11P(dist=5928) chr21 15310168 15310168 C T het . 5 +intergenic LOC110091776(dist=5498),ANKRD20A11P(dist=4398) chr21 15311698 15311698 G - het . 19 +intergenic LOC110091776(dist=5498),ANKRD20A11P(dist=4398) chr21 15311698 15311698 G T het . 20 +ncRNA_intronic ANKRD20A11P chr21 15317285 15317285 G T het . 10 +ncRNA_intronic ANKRD20A11P chr21 15317307 15317308 AA - het . 10 +ncRNA_intronic ANKRD20A11P chr21 15317562 15317562 G A het . 5 +ncRNA_intronic ANKRD20A11P chr21 15323631 15323631 C T het . 6 +ncRNA_intronic ANKRD20A11P chr21 15333206 15333206 C T het . 2 +ncRNA_intronic ANKRD20A11P chr21 15344365 15344365 A C het . 3 +ncRNA_intronic ANKRD20A11P chr21 15347604 15347604 G C het . 10 +ncRNA_intronic ANKRD20A11P chr21 15347608 15347608 C T het . 11 +ncRNA_exonic ANKRD20A11P chr21 15352253 15352253 A C het . 4 +intergenic ANKRD20A11P(dist=29108),LIPI(dist=99262) chr21 15381873 15381873 G C het . 8 +intergenic ANKRD20A11P(dist=33204),LIPI(dist=95166) chr21 15385969 15385969 C A het . 3 +intergenic ANKRD20A11P(dist=33284),LIPI(dist=95086) chr21 15386049 15386049 C T het . 3 +intergenic ANKRD20A11P(dist=83840),LIPI(dist=44530) chr21 15436605 15436605 C T het . 6 +intergenic ANKRD20A11P(dist=83916),LIPI(dist=44454) chr21 15436681 15436681 G C het . 9 +intergenic ANKRD20A11P(dist=108112),LIPI(dist=20258) chr21 15460877 15460877 G A het . 3 +intergenic ANKRD20A11P(dist=108126),LIPI(dist=20244) chr21 15460891 15460891 A G het . 2 +intergenic ANKRD20A11P(dist=108312),LIPI(dist=20058) chr21 15461077 15461077 - AAA het . 3 +intergenic ANKRD20A11P(dist=108326),LIPI(dist=20044) chr21 15461091 15461091 A G het . 3 +intergenic ANKRD20A11P(dist=108356),LIPI(dist=20014) chr21 15461121 15461121 T C het . 2 +intergenic ANKRD20A11P(dist=112666),LIPI(dist=15704) chr21 15465431 15465431 C T het . 2 +intergenic ANKRD20A11P(dist=125043),LIPI(dist=3327) chr21 15477808 15477808 T C het . 4 +intergenic ANKRD20A11P(dist=125102),LIPI(dist=3268) chr21 15477867 15477867 G T het . 2 +intergenic ANKRD20A11P(dist=125123),LIPI(dist=3247) chr21 15477888 15477888 T G het . 2 +UTR3 LIPI(NM_001302998:c.*157A>G,NM_001303000:c.*157A>G,NM_001302999:c.*157A>G,NM_001303001:c.*123A>G,NM_198996:c.*157A>G) chr21 15481157 15481157 T C het . 7 +UTR3 LIPI(NM_001302998:c.*146G>T,NM_001303000:c.*146G>T,NM_001302999:c.*146G>T,NM_001303001:c.*112G>T,NM_198996:c.*146G>T) chr21 15481168 15481168 C A het . 7 +UTR3 LIPI(NM_001302998:c.*80G>A,NM_001303000:c.*80G>A,NM_001302999:c.*80G>A,NM_001303001:c.*46G>A,NM_198996:c.*80G>A) chr21 15481234 15481234 C T het . 6 +exonic LIPI chr21 15481365 15481365 G T het . 23 +intronic LIPI chr21 15516898 15516898 C T het . 26 +exonic LIPI chr21 15516948 15516948 C T het . 38 +exonic LIPI chr21 15516976 15516976 T A het . 41 +intronic LIPI chr21 15536026 15536026 A - het . 19 +intronic LIPI chr21 15548670 15548670 T C het . 4 +intronic LIPI chr21 15548739 15548739 C T het . 3 +intronic LIPI chr21 15552721 15552721 T C het . 2 +intronic LIPI chr21 15554030 15554030 T C het . 21 +intronic LIPI chr21 15554338 15554338 T C het . 6 +intronic LIPI chr21 15558204 15558204 A - het . 14 +exonic LIPI chr21 15558346 15558346 G A het . 33 +intronic LIPI chr21 15558464 15558464 G A het . 9 +intronic LIPI chr21 15561781 15561781 G A het . 8 +upstream LIPI(dist=8) chr21 15583220 15583220 G A het . 14 +upstream LIPI(dist=120) chr21 15583332 15583332 T C het . 7 +intronic RBM11 chr21 15588775 15588775 G A het . 4 +intronic RBM11 chr21 15588798 15588798 C T het . 2 +exonic RBM11 chr21 15596772 15596772 T G het . 14 +intronic RBM11 chr21 15596882 15596882 T C het . 15 +intronic RBM11 chr21 15599144 15599144 T C het . 3 +intergenic RBM11(dist=29823),ABCC13(dist=15604) chr21 15630516 15630516 G T het . 2 +intergenic RBM11(dist=33833),ABCC13(dist=11594) chr21 15634526 15634526 G A het . 2 +intergenic RBM11(dist=38519),ABCC13(dist=6908) chr21 15639212 15639212 A G het . 3 +intergenic RBM11(dist=38589),ABCC13(dist=6838) chr21 15639282 15639282 C T het . 2 +ncRNA_exonic ABCC13 chr21 15646397 15646397 A G het . 5 +ncRNA_exonic ABCC13 chr21 15646439 15646439 C T het . 15 +ncRNA_intronic ABCC13 chr21 15652069 15652069 A G het . 12 +intergenic ABCC13(dist=65193),HSPA13(dist=4552) chr21 15738885 15738885 A G het . 2 +intergenic ABCC13(dist=65228),HSPA13(dist=4517) chr21 15738920 15738920 T C het . 3 +downstream HSPA13(dist=441) chr21 15742996 15742996 - AGA het . 3 +intronic HSPA13 chr21 15748186 15748186 C A het . 6 +intronic HSPA13 chr21 15755349 15755349 T C het . 3 +intergenic HSPA13(dist=14693),SAMSN1(dist=87347) chr21 15770202 15770202 T C het . 2 +intergenic HSPA13(dist=53003),SAMSN1(dist=49037) chr21 15808512 15808512 A G het . 2 +intronic SAMSN1 chr21 15870638 15870638 C T het . 4 +exonic SAMSN1 chr21 15884815 15884815 A G het . 29 +intronic SAMSN1 chr21 15909028 15909028 C G het . 2 +intronic SAMSN1 chr21 15913769 15913769 C A het . 6 +intronic SAMSN1 chr21 15913836 15913836 G T het . 3 +intronic SAMSN1 chr21 15913841 15913841 T G het . 3 +exonic SAMSN1 chr21 15918577 15918577 G C het . 22 +intronic SAMSN1 chr21 15926990 15926990 C G het . 2 +intronic SAMSN1 chr21 15941451 15941451 A - het . 2 +intronic SAMSN1 chr21 15941452 15941452 A T het . 2 +intronic SAMSN1 chr21 15949925 15949925 A T het . 1 +intronic SAMSN1 chr21 15949933 15949933 G T het . 2 +intronic SAMSN1 chr21 15951880 15951880 C G het . 2 +intronic SAMSN1 chr21 15951912 15951912 A G het . 6 +intronic SAMSN1 chr21 15951986 15951986 G T het . 2 +intronic SAMSN1 chr21 15952953 15952953 G T het . 3 +exonic SAMSN1 chr21 15954593 15954593 G A het . 21 +exonic SAMSN1 chr21 15954660 15954660 T C het . 25 +ncRNA_intronic SAMSN1-AS1 chr21 15956294 15956294 G T het . 3 +ncRNA_intronic SAMSN1-AS1 chr21 15964920 15964920 C G het . 16 +ncRNA_intronic SAMSN1-AS1 chr21 15966421 15966421 T A het . 13 +exonic LOC388813 chr21 15974409 15974409 T C het . 18 +intronic LOC388813 chr21 15984982 15984982 C A het . 28 +intronic LOC388813 chr21 16000375 16000375 T G het . 2 +intronic LOC388813 chr21 16002341 16002341 T C het . 2 +intronic LOC388813 chr21 16015155 16015155 C T het . 5 +intronic LOC388813 chr21 16015250 16015250 A G het . 8 +intergenic LOC388813(dist=3352),LINC02246(dist=170379) chr21 16018780 16018780 G A het . 2 +intergenic LOC388813(dist=11778),LINC02246(dist=161953) chr21 16027206 16027206 G A het . 2 +intergenic LOC388813(dist=97685),LINC02246(dist=76046) chr21 16113113 16113113 T - het . 2 +intergenic LOC388813(dist=101306),LINC02246(dist=72421) chr21 16116734 16116738 AAAAC - het . 2 +intergenic LOC388813(dist=101342),LINC02246(dist=72389) chr21 16116770 16116770 T C het . 2 +intergenic LOC388813(dist=115005),LINC02246(dist=58726) chr21 16130433 16130433 T C het . 5 +intergenic LOC388813(dist=117152),LINC02246(dist=56579) chr21 16132580 16132580 A G het . 3 +intergenic LOC388813(dist=121808),LINC02246(dist=51923) chr21 16137236 16137236 A T het . 1 +intergenic LOC388813(dist=164623),LINC02246(dist=9108) chr21 16180051 16180051 C T het . 3 +intergenic LOC388813(dist=171577),LINC02246(dist=2154) chr21 16187005 16187005 A G het . 2 +ncRNA_intronic LINC02246 chr21 16207868 16207869 CA TG het . 2 +ncRNA_intronic LINC02246 chr21 16255361 16255361 G A het . 3 +ncRNA_intronic LINC02246 chr21 16255365 16255365 G A het . 3 +ncRNA_intronic LINC02246 chr21 16255370 16255370 G A het . 3 +intergenic NRIP1(dist=20232),USP25(dist=644895) chr21 16457358 16457358 A C het . 2 +intergenic NRIP1(dist=33408),USP25(dist=631719) chr21 16470534 16470534 C T het . 2 +intergenic NRIP1(dist=45517),USP25(dist=619610) chr21 16482643 16482643 T G het . 2 +intergenic NRIP1(dist=136857),USP25(dist=528270) chr21 16573983 16573983 - C het . 2 +intergenic NRIP1(dist=139657),USP25(dist=525470) chr21 16576783 16576783 G A het . 2 +intergenic NRIP1(dist=174590),USP25(dist=490537) chr21 16611716 16611716 - C het . 2 +intergenic NRIP1(dist=195351),USP25(dist=469776) chr21 16632477 16632477 A G het . 2 +intergenic NRIP1(dist=364269),USP25(dist=300858) chr21 16801395 16801395 C G het . 2 +intergenic NRIP1(dist=382823),USP25(dist=282304) chr21 16819949 16819949 G A het . 2 +intergenic NRIP1(dist=382955),USP25(dist=282172) chr21 16820081 16820081 A T het . 2 +intergenic NRIP1(dist=388011),USP25(dist=277116) chr21 16825137 16825137 - T het . 2 +intergenic NRIP1(dist=427874),USP25(dist=237253) chr21 16865000 16865000 A C het . 4 +intergenic NRIP1(dist=519895),USP25(dist=145232) chr21 16957021 16957021 T C het . 1 +intergenic NRIP1(dist=527211),USP25(dist=137916) chr21 16964337 16964337 G C het . 2 +intergenic NRIP1(dist=563493),USP25(dist=101634) chr21 17000619 17000619 G T het . 2 +intergenic NRIP1(dist=582924),USP25(dist=82203) chr21 17020050 17020050 A C het . 2 +intergenic NRIP1(dist=583095),USP25(dist=82032) chr21 17020221 17020221 C A het . 2 +intergenic NRIP1(dist=589565),USP25(dist=75562) chr21 17026691 17026691 T C het . 2 +intergenic NRIP1(dist=600855),USP25(dist=64272) chr21 17037981 17037981 C T het . 3 +intergenic NRIP1(dist=656533),USP25(dist=8594) chr21 17093659 17093659 A T het . 3 +intronic USP25 chr21 17192036 17192036 C T het . 3 +intronic USP25 chr21 17202780 17202780 A C het . 5 +intronic USP25 chr21 17202812 17202812 T C het . 13 +exonic USP25 chr21 17203785 17203785 A T het . 16 +intronic USP25 chr21 17236478 17236478 A - het . 11 +intergenic USP25(dist=67334),MIR99AHG(dist=123084) chr21 17319724 17319724 C A het . 2 +intergenic USP25(dist=67367),MIR99AHG(dist=123051) chr21 17319757 17319757 G T het . 2 +intergenic USP25(dist=68017),MIR99AHG(dist=122401) chr21 17320407 17320407 G A het . 2 +intergenic USP25(dist=113755),MIR99AHG(dist=76663) chr21 17366145 17366145 C T het . 2 +intergenic USP25(dist=120563),MIR99AHG(dist=69855) chr21 17372953 17372953 C T het . 2 +intergenic USP25(dist=141525),MIR99AHG(dist=48893) chr21 17393915 17393915 C T het . 2 +intergenic USP25(dist=148321),MIR99AHG(dist=42097) chr21 17400711 17400711 T C het . 2 +intergenic USP25(dist=169636),MIR99AHG(dist=20782) chr21 17422026 17422026 C A het . 4 +ncRNA_intronic MIR99AHG chr21 17533418 17533418 G A het . 2 +ncRNA_intronic MIR99AHG chr21 17577988 17577988 G A het . 2 +ncRNA_intronic MIR99AHG chr21 17581859 17581859 A T het . 3 +ncRNA_intronic MIR99AHG chr21 17593931 17593931 A G het . 3 +ncRNA_intronic MIR99AHG chr21 17618519 17618519 T C het . 2 +ncRNA_intronic MIR99AHG chr21 17675927 17675927 - T het . 2 +ncRNA_intronic MIR99AHG chr21 17706784 17706784 A - het . 2 +ncRNA_intronic MIR99AHG chr21 17721965 17721965 A - het . 2 +ncRNA_intronic MIR99AHG chr21 17726332 17726333 CT - het . 4 +ncRNA_intronic MIR99AHG chr21 17743365 17743365 C A het . 2 +ncRNA_intronic MIR99AHG chr21 17763803 17763803 G A het . 10 +ncRNA_intronic MIR99AHG chr21 17774908 17774908 A G het . 2 +ncRNA_intronic MIR99AHG chr21 17775518 17775518 A T het . 2 +ncRNA_intronic MIR99AHG chr21 17775687 17775687 A G het . 4 +ncRNA_intronic MIR99AHG chr21 17803452 17803452 C G het . 2 +ncRNA_intronic MIR99AHG chr21 17804038 17804038 T A het . 2 +ncRNA_intronic MIR99AHG chr21 17827923 17827923 A G het . 3 +ncRNA_intronic MIR99AHG chr21 17939460 17939460 A G het . 3 +ncRNA_intronic MIR99AHG chr21 17989345 17989345 T G het . 2 +intergenic MIR99AHG(dist=2007),LINC01549(dist=805155) chr21 18006053 18006053 T - het . 2 +intergenic MIR99AHG(dist=2014),LINC01549(dist=805148) chr21 18006060 18006060 G A het . 2 +intergenic MIR99AHG(dist=65553),LINC01549(dist=741609) chr21 18069599 18069599 A T het . 2 +intergenic MIR99AHG(dist=87004),LINC01549(dist=720158) chr21 18091050 18091050 A T het . 2 +intergenic MIR99AHG(dist=88773),LINC01549(dist=718389) chr21 18092819 18092819 G A het . 2 +intergenic MIR99AHG(dist=89536),LINC01549(dist=717626) chr21 18093582 18093582 A - het . 2 +intergenic MIR99AHG(dist=93770),LINC01549(dist=713392) chr21 18097816 18097816 C T het . 2 +intergenic MIR99AHG(dist=97956),LINC01549(dist=709206) chr21 18102002 18102002 G C het . 2 +intergenic MIR99AHG(dist=107067),LINC01549(dist=700095) chr21 18111113 18111113 C T het . 3 +intergenic MIR99AHG(dist=109145),LINC01549(dist=698017) chr21 18113191 18113191 G A het . 2 +intergenic MIR99AHG(dist=120723),LINC01549(dist=686439) chr21 18124769 18124769 G C het . 3 +intergenic MIR99AHG(dist=129912),LINC01549(dist=677250) chr21 18133958 18133958 C T het . 2 +intergenic MIR99AHG(dist=130391),LINC01549(dist=676771) chr21 18134437 18134437 T C het . 3 +intergenic MIR99AHG(dist=130413),LINC01549(dist=676749) chr21 18134459 18134459 T C het . 3 +intergenic MIR99AHG(dist=131240),LINC01549(dist=675922) chr21 18135286 18135286 T C het . 2 +intergenic MIR99AHG(dist=181996),LINC01549(dist=625166) chr21 18186042 18186042 C G het . 2 +intergenic MIR99AHG(dist=191504),LINC01549(dist=615658) chr21 18195550 18195550 C T het . 2 +intergenic MIR99AHG(dist=197446),LINC01549(dist=609716) chr21 18201492 18201492 C T het . 1 +intergenic MIR99AHG(dist=208531),LINC01549(dist=598631) chr21 18212577 18212577 A G het . 1 +intergenic MIR99AHG(dist=270027),LINC01549(dist=537135) chr21 18274073 18274073 A G het . 2 +intergenic MIR99AHG(dist=270047),LINC01549(dist=537115) chr21 18274093 18274093 A G het . 2 +intergenic MIR99AHG(dist=282985),LINC01549(dist=524177) chr21 18287031 18287031 C G het . 2 +intergenic MIR99AHG(dist=296772),LINC01549(dist=510390) chr21 18300818 18300818 G T het . 2 +intergenic MIR99AHG(dist=306359),LINC01549(dist=500803) chr21 18310405 18310405 - G het . 2 +intergenic MIR99AHG(dist=309362),LINC01549(dist=497800) chr21 18313408 18313408 T G het . 1 +intergenic MIR99AHG(dist=309378),LINC01549(dist=497784) chr21 18313424 18313424 G T het . 2 +intergenic MIR99AHG(dist=319971),LINC01549(dist=487191) chr21 18324017 18324017 - C het . 2 +intergenic MIR99AHG(dist=321075),LINC01549(dist=486087) chr21 18325121 18325121 - A het . 2 +intergenic MIR99AHG(dist=366960),LINC01549(dist=440202) chr21 18371006 18371006 A G het . 2 +intergenic MIR99AHG(dist=389352),LINC01549(dist=417810) chr21 18393398 18393398 A C het . 2 +intergenic MIR99AHG(dist=422959),LINC01549(dist=384203) chr21 18427005 18427005 G A het . 2 +intergenic MIR99AHG(dist=436381),LINC01549(dist=370781) chr21 18440427 18440427 - A het . 2 +intergenic MIR99AHG(dist=470942),LINC01549(dist=336220) chr21 18474988 18474988 A C het . 2 +intergenic MIR99AHG(dist=474482),LINC01549(dist=332680) chr21 18478528 18478528 T C het . 2 +intergenic MIR99AHG(dist=494380),LINC01549(dist=312782) chr21 18498426 18498426 T A het . 2 +intergenic MIR99AHG(dist=498660),LINC01549(dist=308502) chr21 18502706 18502706 C G het . 2 +intergenic MIR99AHG(dist=498679),LINC01549(dist=308483) chr21 18502725 18502725 G A het . 2 +intergenic MIR99AHG(dist=501827),LINC01549(dist=305335) chr21 18505873 18505873 A C het . 2 +intergenic MIR99AHG(dist=515639),LINC01549(dist=291523) chr21 18519685 18519685 A T het . 2 +intergenic MIR99AHG(dist=516829),LINC01549(dist=290333) chr21 18520875 18520875 A T het . 2 +intergenic MIR99AHG(dist=520252),LINC01549(dist=286910) chr21 18524298 18524298 C G het . 2 +intergenic MIR99AHG(dist=537978),LINC01549(dist=269184) chr21 18542024 18542024 T C het . 2 +intergenic MIR99AHG(dist=553730),LINC01549(dist=253432) chr21 18557776 18557776 T A het . 2 +intergenic MIR99AHG(dist=569660),LINC01549(dist=237502) chr21 18573706 18573706 T - het . 2 +intergenic MIR99AHG(dist=569672),LINC01549(dist=237490) chr21 18573718 18573718 T A het . 2 +intergenic MIR99AHG(dist=574448),LINC01549(dist=232714) chr21 18578494 18578494 A G het . 2 +intergenic MIR99AHG(dist=582358),LINC01549(dist=224804) chr21 18586404 18586404 A T het . 2 +intergenic MIR99AHG(dist=587100),LINC01549(dist=220062) chr21 18591146 18591146 G A het . 3 +intergenic MIR99AHG(dist=615192),LINC01549(dist=191970) chr21 18619238 18619238 C G het . 2 +intergenic MIR99AHG(dist=616206),LINC01549(dist=190956) chr21 18620252 18620252 G A het . 2 +intergenic MIR99AHG(dist=617555),LINC01549(dist=189607) chr21 18621601 18621601 A G het . 2 +intergenic MIR99AHG(dist=617718),LINC01549(dist=189444) chr21 18621764 18621764 C T het . 2 +intergenic MIR99AHG(dist=622761),LINC01549(dist=184401) chr21 18626807 18626807 A - het . 2 +intergenic MIR99AHG(dist=625545),LINC01549(dist=181617) chr21 18629591 18629591 C T het . 2 +intergenic MIR99AHG(dist=665277),LINC01549(dist=141885) chr21 18669323 18669323 T - het . 3 +intergenic MIR99AHG(dist=665281),LINC01549(dist=141881) chr21 18669327 18669327 - A het . 3 +intergenic MIR99AHG(dist=705158),LINC01549(dist=102004) chr21 18709204 18709204 C A het . 2 +intergenic MIR99AHG(dist=705162),LINC01549(dist=102000) chr21 18709208 18709208 - A het . 2 +intergenic MIR99AHG(dist=705195),LINC01549(dist=101967) chr21 18709241 18709241 - A het . 2 +intergenic MIR99AHG(dist=750593),LINC01549(dist=56569) chr21 18754639 18754639 G A het . 2 +intergenic MIR99AHG(dist=768365),LINC01549(dist=38797) chr21 18772411 18772411 C A het . 1 +intergenic MIR99AHG(dist=790916),LINC01549(dist=16246) chr21 18794962 18794962 T - het . 2 +intergenic MIR99AHG(dist=803253),LINC01549(dist=3909) chr21 18807299 18807299 T - het . 5 +intergenic LINC01549(dist=17038),CXADR(dist=46683) chr21 18838541 18838541 - TA het . 2 +intergenic LINC01549(dist=27737),CXADR(dist=35984) chr21 18849240 18849240 T C het . 2 +intergenic LINC01549(dist=36380),CXADR(dist=27341) chr21 18857883 18857883 T C het . 2 +intergenic LINC01549(dist=37541),CXADR(dist=26180) chr21 18859044 18859044 G A het . 2 +intergenic LINC01549(dist=50843),CXADR(dist=12878) chr21 18872346 18872346 A - het . 2 +intergenic LINC01549(dist=54508),CXADR(dist=9213) chr21 18876011 18876011 A C het . 2 +intronic CXADR chr21 18903854 18903854 A G het . 2 +intronic CXADR chr21 18914370 18914370 T A het . 19 +intronic CXADR chr21 18915188 18915188 C G het . 2 +intronic CXADR chr21 18915218 18915218 G A het . 2 +intronic CXADR chr21 18915630 18915630 C T het . 4 +intronic CXADR chr21 18932183 18932183 C G het . 2 +intronic CXADR chr21 18933561 18933561 - AT het . 4 +intronic CXADR chr21 18933828 18933828 A G het . 6 +intronic CXADR chr21 18945035 18945035 T C het . 2 +intronic CXADR chr21 18947985 18947985 A G het . 2 +intronic CXADR chr21 18954264 18954264 T - het . 1 +intronic CXADR chr21 18964718 18964718 T - het . 2 +intronic BTG3 chr21 18966725 18966728 ACAA - het . 11 +intronic BTG3 chr21 18976385 18976385 C A het . 3 +intergenic BTG3-AS1(dist=3962),C21orf91-OT1(dist=159337) chr21 18990384 18990384 T G het . 7 +ncRNA_intronic C21orf91-OT1 chr21 19160962 19160962 G A het . 2 +intronic C21orf91 chr21 19165942 19165942 C T het . 15 +intronic C21orf91 chr21 19167322 19167322 A - het . 5 +exonic C21orf91 chr21 19169155 19169155 G C het . 34 +intronic C21orf91 chr21 19190427 19190427 C T het . 4 +intronic CHODL chr21 19385765 19385765 G - het . 2 +intronic CHODL chr21 19432853 19432853 G A het . 2 +intronic CHODL chr21 19434215 19434215 G A het . 2 +intronic CHODL chr21 19443386 19443387 TT GC het . 2 +intronic CHODL chr21 19456610 19456610 - T het . 3 +intronic CHODL chr21 19467442 19467443 AA - het . 3 +intronic CHODL chr21 19467451 19467451 A G het . 3 +intronic CHODL chr21 19506651 19506651 G A het . 29 +intronic CHODL chr21 19506694 19506694 T G het . 19 +intronic CHODL chr21 19506715 19506715 C T het . 14 +intronic CHODL chr21 19508376 19508376 C A het . 2 +intronic CHODL chr21 19531612 19531612 A G het . 2 +intronic CHODL chr21 19539582 19539582 A T het . 2 +intronic CHODL chr21 19540750 19540750 A G het . 2 +intronic CHODL chr21 19540771 19540771 G A het . 2 +intronic CHODL chr21 19612731 19612731 A T het . 2 +intronic CHODL chr21 19634907 19634907 A T het . 2 +intronic TMPRSS15 chr21 19642691 19642691 T G het . 8 +intronic TMPRSS15 chr21 19642695 19642695 C A het . 8 +intronic TMPRSS15 chr21 19651241 19651241 - T het . 5 +intronic TMPRSS15 chr21 19653343 19653343 T - het . 24 +intronic TMPRSS15 chr21 19666526 19666526 C T het . 6 +intronic TMPRSS15 chr21 19666530 19666530 T C het . 6 +intronic TMPRSS15 chr21 19666910 19666910 A G het . 35 +intronic TMPRSS15 chr21 19668497 19668497 C A het . 2 +exonic TMPRSS15 chr21 19670118 19670118 G A het . 36 +intronic TMPRSS15 chr21 19675657 19675657 T C het . 2 +intronic TMPRSS15 chr21 19685052 19685052 A T het . 4 +intronic TMPRSS15 chr21 19685405 19685405 A G het . 28 +intronic TMPRSS15 chr21 19687376 19687376 G A het . 12 +intronic TMPRSS15 chr21 19691727 19691729 TCT - het . 2 +intronic TMPRSS15 chr21 19701304 19701304 C A het . 4 +intronic TMPRSS15 chr21 19701422 19701423 CT - het . 25 +intronic TMPRSS15 chr21 19701770 19701770 T - het . 12 +intronic TMPRSS15 chr21 19701780 19701780 G - het . 14 +intronic TMPRSS15 chr21 19702140 19702140 T C het . 2 +intronic TMPRSS15 chr21 19704296 19704296 C T het . 14 +exonic TMPRSS15 chr21 19713821 19713821 C T het . 23 +intronic TMPRSS15 chr21 19731821 19731822 CC AT het . 5 +intronic TMPRSS15 chr21 19731869 19731870 AA - het . 6 +intronic TMPRSS15 chr21 19770031 19770031 C T het . 4 +exonic TMPRSS15 chr21 19770562 19770562 T C het . 31 +intronic TMPRSS15 chr21 19770871 19770871 C T het . 5 +intergenic TMPRSS15(dist=37653),MIR548XHG(dist=119960) chr21 19813623 19813623 A C het . 4 +intergenic TMPRSS15(dist=42781),MIR548XHG(dist=114832) chr21 19818751 19818751 A C het . 1 +intergenic TMPRSS15(dist=110690),MIR548XHG(dist=46923) chr21 19886660 19886660 T C het . 2 +intergenic TMPRSS15(dist=110707),MIR548XHG(dist=46906) chr21 19886677 19886677 G T het . 2 +intergenic TMPRSS15(dist=110717),MIR548XHG(dist=46896) chr21 19886687 19886687 G A het . 2 +intergenic TMPRSS15(dist=110819),MIR548XHG(dist=46794) chr21 19886789 19886789 A T het . 2 +ncRNA_intronic MIR548XHG chr21 19937015 19937015 A T het . 2 +ncRNA_intronic MIR548XHG chr21 19975262 19975262 T C het . 2 +ncRNA_intronic MIR548XHG chr21 19985166 19985166 A G het . 2 +ncRNA_intronic MIR548XHG chr21 20092099 20092099 A G het . 1 +ncRNA_intronic MIR548XHG chr21 20099787 20099787 G A het . 2 +ncRNA_intronic MIR548XHG chr21 20107095 20107095 T C het . 2 +ncRNA_intronic MIR548XHG chr21 20107892 20107892 A G het . 2 +ncRNA_intronic MIR548XHG chr21 20120499 20120499 T C het . 2 +ncRNA_intronic MIR548XHG chr21 20121532 20121533 AA - het . 3 +ncRNA_intronic MIR548XHG chr21 20131430 20131430 - A het . 3 +intergenic MIR548XHG(dist=52667),LINC01683(dist=1080795) chr21 20184797 20184798 GC AT het . 2 +intergenic MIR548XHG(dist=53418),LINC01683(dist=1080045) chr21 20185548 20185548 A C het . 2 +intergenic MIR548XHG(dist=67840),LINC01683(dist=1065623) chr21 20199970 20199970 G T het . 2 +intergenic MIR548XHG(dist=67926),LINC01683(dist=1065537) chr21 20200056 20200056 T A het . 2 +intergenic MIR548XHG(dist=68989),LINC01683(dist=1064474) chr21 20201119 20201119 G A het . 2 +intergenic MIR548XHG(dist=78630),LINC01683(dist=1054833) chr21 20210760 20210760 T C het . 2 +intergenic MIR548XHG(dist=78653),LINC01683(dist=1054810) chr21 20210783 20210783 A G het . 2 +intergenic MIR548XHG(dist=97808),LINC01683(dist=1035655) chr21 20229938 20229938 A T het . 4 +intergenic MIR548XHG(dist=97814),LINC01683(dist=1035649) chr21 20229944 20229944 T C het . 4 +intergenic MIR548XHG(dist=97818),LINC01683(dist=1035645) chr21 20229948 20229948 - A het . 3 +intergenic MIR548XHG(dist=97831),LINC01683(dist=1035632) chr21 20229961 20229961 T G het . 4 +intergenic MIR548XHG(dist=98038),LINC01683(dist=1035425) chr21 20230168 20230168 G A het . 27 +intergenic MIR548XHG(dist=103521),LINC01683(dist=1029942) chr21 20235651 20235651 C A het . 1 +intergenic MIR548XHG(dist=103532),LINC01683(dist=1029931) chr21 20235662 20235662 A G het . 2 +intergenic MIR548XHG(dist=103561),LINC01683(dist=1029902) chr21 20235691 20235691 G T het . 2 +intergenic MIR548XHG(dist=131311),LINC01683(dist=1002152) chr21 20263441 20263441 - T het . 2 +intergenic MIR548XHG(dist=136000),LINC01683(dist=997463) chr21 20268130 20268130 A C het . 2 +intergenic MIR548XHG(dist=136331),LINC01683(dist=997132) chr21 20268461 20268461 C T het . 1 +intergenic MIR548XHG(dist=160923),LINC01683(dist=972540) chr21 20293053 20293053 C T het . 2 +intergenic MIR548XHG(dist=249915),LINC01683(dist=883548) chr21 20382045 20382045 A G het . 2 +intergenic MIR548XHG(dist=332229),LINC01683(dist=801234) chr21 20464359 20464359 G A het . 2 +intergenic MIR548XHG(dist=352224),LINC01683(dist=781239) chr21 20484354 20484354 A C het . 2 +intergenic MIR548XHG(dist=364845),LINC01683(dist=768618) chr21 20496975 20496975 T C het . 2 +intergenic MIR548XHG(dist=457500),LINC01683(dist=675963) chr21 20589630 20589630 G C het . 2 +intergenic MIR548XHG(dist=457509),LINC01683(dist=675954) chr21 20589639 20589639 A G het . 2 +intergenic MIR548XHG(dist=459225),LINC01683(dist=674238) chr21 20591355 20591355 C T het . 2 +intergenic MIR548XHG(dist=486126),LINC01683(dist=647337) chr21 20618256 20618256 A G het . 6 +intergenic MIR548XHG(dist=486155),LINC01683(dist=647308) chr21 20618285 20618285 C T het . 5 +intergenic MIR548XHG(dist=668698),LINC01683(dist=464765) chr21 20800828 20800828 T C het . 2 +intergenic MIR548XHG(dist=668707),LINC01683(dist=464756) chr21 20800837 20800837 A C het . 1 +intergenic MIR548XHG(dist=714458),LINC01683(dist=419005) chr21 20846588 20846588 A T het . 2 +intergenic MIR548XHG(dist=742816),LINC01683(dist=390647) chr21 20874946 20874946 - T het . 2 +intergenic MIR548XHG(dist=743448),LINC01683(dist=390015) chr21 20875578 20875578 T C het . 2 +intergenic MIR548XHG(dist=772774),LINC01683(dist=360689) chr21 20904904 20904904 C - het . 2 +intergenic MIR548XHG(dist=829072),LINC01683(dist=304391) chr21 20961202 20961202 C T het . 3 +intergenic MIR548XHG(dist=954048),LINC01683(dist=179415) chr21 21086178 21086178 C A het . 2 +intergenic MIR548XHG(dist=963964),LINC01683(dist=169499) chr21 21096094 21096094 C T het . 2 +intergenic MIR548XHG(dist=992723),LINC01683(dist=140740) chr21 21124853 21124853 C G het . 2 +intergenic MIR548XHG(dist=1036713),LINC01683(dist=96750) chr21 21168843 21168843 A G het . 2 +intergenic MIR548XHG(dist=1039580),LINC01683(dist=93883) chr21 21171710 21171710 A G het . 2 +ncRNA_intronic LINC01683 chr21 21266155 21266155 A G het . 2 +intergenic LINC01683(dist=27748),LINC02573(dist=329358) chr21 21299817 21299817 - A het . 2 +intergenic LINC01683(dist=39377),LINC02573(dist=317729) chr21 21311446 21311446 T C het . 2 +intergenic LINC01683(dist=108250),LINC02573(dist=248856) chr21 21380319 21380319 T C het . 2 +intergenic LINC01683(dist=135477),LINC02573(dist=221629) chr21 21407546 21407546 A C het . 2 +intergenic LINC01683(dist=143530),LINC02573(dist=213576) chr21 21415599 21415599 T C het . 2 +intergenic LINC01683(dist=149812),LINC02573(dist=207294) chr21 21421881 21421881 C G het . 2 +intergenic LINC01683(dist=163211),LINC02573(dist=193895) chr21 21435280 21435280 C A het . 2 +intergenic LINC01683(dist=191903),LINC02573(dist=165203) chr21 21463972 21463972 A T het . 2 +intergenic LINC01683(dist=211405),LINC02573(dist=145701) chr21 21483474 21483474 A C het . 2 +intergenic LINC01683(dist=223383),LINC02573(dist=133723) chr21 21495452 21495452 C A het . 3 +intergenic LINC01683(dist=232716),LINC02573(dist=124390) chr21 21504785 21504785 G A het . 2 +intergenic LINC01683(dist=251187),LINC02573(dist=105919) chr21 21523256 21523256 G T het . 2 +intergenic LINC01683(dist=273716),LINC02573(dist=83390) chr21 21545785 21545785 C T het . 2 +intergenic LINC01683(dist=278065),LINC02573(dist=79041) chr21 21550134 21550134 A G het . 2 +intergenic LINC01683(dist=290363),LINC02573(dist=66743) chr21 21562432 21562432 A G het . 2 +intergenic LINC01683(dist=290368),LINC02573(dist=66738) chr21 21562437 21562437 C T het . 2 +intergenic LINC01683(dist=290379),LINC02573(dist=66727) chr21 21562448 21562448 A G het . 2 +intergenic LINC01683(dist=290405),LINC02573(dist=66701) chr21 21562474 21562474 G A het . 1 +intergenic LINC01683(dist=291096),LINC02573(dist=66010) chr21 21563165 21563165 C G het . 2 +intergenic LINC01683(dist=292468),LINC02573(dist=64638) chr21 21564537 21564537 A T het . 2 +intergenic LINC01683(dist=292483),LINC02573(dist=64623) chr21 21564552 21564552 A T het . 2 +intergenic LINC01683(dist=298607),LINC02573(dist=58499) chr21 21570676 21570676 G A het . 2 +intergenic LINC01683(dist=299533),LINC02573(dist=57573) chr21 21571602 21571602 - A het . 2 +intergenic LINC01683(dist=299549),LINC02573(dist=57557) chr21 21571618 21571618 - T het . 2 +intergenic LINC01683(dist=299560),LINC02573(dist=57546) chr21 21571629 21571629 - T het . 3 +intergenic LINC01683(dist=299570),LINC02573(dist=57536) chr21 21571639 21571639 G C het . 3 +intergenic LINC01683(dist=299594),LINC02573(dist=57512) chr21 21571663 21571663 A - het . 3 +intergenic LINC01683(dist=304583),LINC02573(dist=52523) chr21 21576652 21576652 - A het . 2 +intergenic LINC01683(dist=309451),LINC02573(dist=47655) chr21 21581520 21581520 C T het . 2 +intergenic LINC01683(dist=316796),LINC02573(dist=40310) chr21 21588865 21588865 G A het . 3 +intergenic LINC01683(dist=317273),LINC02573(dist=39833) chr21 21589342 21589342 C G het . 2 +intergenic LINC01683(dist=317601),LINC02573(dist=39505) chr21 21589670 21589670 A T het . 1 +intergenic LINC01683(dist=317612),LINC02573(dist=39494) chr21 21589681 21589681 T G het . 3 +intergenic LINC01683(dist=321205),LINC02573(dist=35901) chr21 21593274 21593274 A G het . 2 +intergenic LINC01683(dist=327570),LINC02573(dist=29536) chr21 21599639 21599639 A T het . 2 +intergenic LINC01683(dist=342823),LINC02573(dist=14283) chr21 21614892 21614892 G A het . 2 +intergenic LINC02573(dist=25267),LINC00320(dist=458643) chr21 21656265 21656265 - T het . 2 +intergenic LINC02573(dist=32666),LINC00320(dist=451244) chr21 21663664 21663664 - A het . 2 +intergenic LINC02573(dist=33115),LINC00320(dist=450795) chr21 21664113 21664113 G A het . 2 +intergenic LINC02573(dist=36632),LINC00320(dist=447278) chr21 21667630 21667630 C A het . 2 +intergenic LINC02573(dist=45156),LINC00320(dist=438754) chr21 21676154 21676154 A G het . 2 +intergenic LINC02573(dist=45165),LINC00320(dist=438745) chr21 21676163 21676163 C - het . 2 +intergenic LINC02573(dist=60453),LINC00320(dist=423457) chr21 21691451 21691451 A T het . 2 +intergenic LINC02573(dist=67077),LINC00320(dist=416833) chr21 21698075 21698075 C T het . 2 +intergenic LINC02573(dist=90123),LINC00320(dist=393787) chr21 21721121 21721121 - T het . 2 +intergenic LINC02573(dist=95922),LINC00320(dist=387988) chr21 21726920 21726920 A G het . 3 +intergenic LINC02573(dist=116260),LINC00320(dist=367650) chr21 21747258 21747258 A G het . 2 +intergenic LINC02573(dist=127485),LINC00320(dist=356425) chr21 21758483 21758483 C T het . 1 +intergenic LINC02573(dist=130013),LINC00320(dist=353897) chr21 21761011 21761011 A G het . 8 +intergenic LINC02573(dist=153224),LINC00320(dist=330686) chr21 21784222 21784222 G A het . 2 +intergenic LINC02573(dist=166538),LINC00320(dist=317372) chr21 21797536 21797536 C A het . 4 +intergenic LINC02573(dist=166567),LINC00320(dist=317343) chr21 21797565 21797565 G T het . 7 +intergenic LINC02573(dist=176667),LINC00320(dist=307243) chr21 21807665 21807665 G A het . 2 +intergenic LINC02573(dist=176670),LINC00320(dist=307240) chr21 21807668 21807668 G C het . 2 +intergenic LINC02573(dist=178354),LINC00320(dist=305556) chr21 21809352 21809352 G C het . 2 +intergenic LINC02573(dist=184328),LINC00320(dist=299582) chr21 21815326 21815326 C T het . 2 +intergenic LINC02573(dist=188020),LINC00320(dist=295890) chr21 21819018 21819018 A G het . 2 +intergenic LINC02573(dist=190134),LINC00320(dist=293776) chr21 21821132 21821132 C T het . 2 +intergenic LINC02573(dist=196066),LINC00320(dist=287844) chr21 21827064 21827064 T C het . 3 +intergenic LINC02573(dist=220722),LINC00320(dist=263188) chr21 21851720 21851720 G A het . 2 +intergenic LINC02573(dist=230968),LINC00320(dist=252942) chr21 21861966 21861966 A G het . 2 +intergenic LINC02573(dist=241425),LINC00320(dist=242485) chr21 21872423 21872423 C A het . 2 +intergenic LINC02573(dist=244616),LINC00320(dist=239294) chr21 21875614 21875614 G C het . 2 +intergenic LINC02573(dist=273805),LINC00320(dist=210105) chr21 21904803 21904803 G C het . 2 +intergenic LINC02573(dist=332538),LINC00320(dist=151372) chr21 21963536 21963536 A C het . 3 +intergenic LINC02573(dist=351767),LINC00320(dist=132143) chr21 21982765 21982765 C G het . 2 +intergenic LINC02573(dist=387490),LINC00320(dist=96420) chr21 22018488 22018488 T A het . 2 +ncRNA_intronic LINC00320 chr21 22119890 22119890 C A het . 2 +ncRNA_intronic LINC00320 chr21 22123419 22123419 C T het . 2 +ncRNA_intronic LINC00320 chr21 22127110 22127110 T C het . 2 +ncRNA_intronic LINC00320 chr21 22130054 22130054 G A het . 2 +ncRNA_intronic LINC00320 chr21 22135783 22135783 A T het . 2 +ncRNA_intronic LINC00320 chr21 22143075 22143075 G T het . 2 +intergenic LINC00320(dist=4187),NCAM2(dist=191001) chr21 22179613 22179613 T G het . 2 +intergenic LINC00320(dist=25118),NCAM2(dist=170070) chr21 22200544 22200544 - A het . 5 +intergenic LINC00320(dist=98011),NCAM2(dist=97177) chr21 22273437 22273437 G A het . 1 +intergenic LINC00320(dist=115708),NCAM2(dist=79480) chr21 22291134 22291134 A - het . 5 +intergenic LINC00320(dist=178433),NCAM2(dist=16755) chr21 22353859 22353859 G C het . 2 +intronic NCAM2 chr21 22399060 22399060 G A het . 3 +intronic NCAM2 chr21 22399071 22399072 TT AA het . 2 +intronic NCAM2 chr21 22399074 22399074 T A het . 2 +intronic NCAM2 chr21 22399082 22399082 T A het . 2 +intronic NCAM2 chr21 22461319 22461319 T C het . 2 +intronic NCAM2 chr21 22474991 22474991 - A het . 2 +intronic NCAM2 chr21 22512560 22512560 G A het . 2 +intronic NCAM2 chr21 22517519 22517519 T C het . 2 +intronic NCAM2 chr21 22523023 22523023 C T het . 2 +intronic NCAM2 chr21 22523444 22523444 T C het . 2 +intronic NCAM2 chr21 22563193 22563193 A G het . 2 +intronic NCAM2 chr21 22568417 22568417 A G het . 2 +intronic NCAM2 chr21 22579262 22579262 G A het . 2 +intronic NCAM2 chr21 22588064 22588067 AAAC - het . 2 +intronic NCAM2 chr21 22594888 22594888 T C het . 2 +intronic NCAM2 chr21 22617233 22617233 T G het . 2 +intronic NCAM2 chr21 22623457 22623457 A G het . 2 +intronic NCAM2 chr21 22627465 22627465 T C het . 2 +intronic NCAM2 chr21 22647418 22647418 C T het . 2 +intronic NCAM2 chr21 22652720 22652720 C T het . 3 +intronic NCAM2 chr21 22656410 22656410 T - het . 2 +intronic NCAM2 chr21 22658545 22658551 TTTGTGA - het . 8 +intronic NCAM2 chr21 22666560 22666560 A G het . 2 +intronic NCAM2 chr21 22666578 22666578 G C het . 1 +intronic NCAM2 chr21 22686858 22686858 C T het . 2 +intronic NCAM2 chr21 22695124 22695124 A G het . 2 +intronic NCAM2 chr21 22695166 22695166 C A het . 2 +intronic NCAM2 chr21 22696837 22696837 C G het . 5 +exonic NCAM2 chr21 22746187 22746187 T C het . 4 +UTR3 NCAM2(NM_001352597:c.*48G>A) chr21 22757976 22757976 G A het . 14 +intronic NCAM2 chr21 22760574 22760574 C G het . 2 +intronic NCAM2 chr21 22786654 22786654 C T het . 9 +UTR3 NCAM2(NM_001352596:c.*41C>T) chr21 22804674 22804674 C T het . 6 +intronic NCAM2 chr21 22824489 22824490 CA - het . 2 +intronic NCAM2 chr21 22838757 22838757 G T het . 5 +intronic NCAM2 chr21 22839194 22839194 G C het . 5 +intronic NCAM2 chr21 22839419 22839419 C T het . 2 +intronic NCAM2 chr21 22840820 22840820 G A het . 3 +intronic NCAM2 chr21 22840830 22840830 T A het . 3 +intronic NCAM2 chr21 22840930 22840930 A C het . 5 +intronic NCAM2 chr21 22841123 22841123 G A het . 8 +intronic NCAM2 chr21 22841261 22841261 T A het . 2 +intronic NCAM2 chr21 22841283 22841283 C G het . 2 +UTR3 NCAM2(NM_001352594:c.*463T>C) chr21 22850491 22850491 T C het . 1 +intronic NCAM2 chr21 22852053 22852053 A C het . 3 +intronic NCAM2 chr21 22854153 22854153 A G het . 1 +intronic NCAM2 chr21 22861778 22861778 C T het . 3 +intronic NCAM2 chr21 22874231 22874231 A G het . 2 +intronic NCAM2 chr21 22878227 22878227 T A het . 2 +intronic NCAM2 chr21 22910051 22910051 A G het . 8 +intronic NCAM2 chr21 22910116 22910116 C T het . 13 +intronic NCAM2 chr21 22910123 22910123 T G het . 16 +UTR3 NCAM2(NM_001352595:c.*2338_*2339delAT,NM_001352591:c.*2338_*2339delAT,NM_004540:c.*2338_*2339delAT,NM_001352592:c.*2338_*2339delAT) chr21 22912616 22912617 AT - het . 2 +intergenic NCAM2(dist=87722),LINC00317(dist=92243) chr21 23003370 23003370 A G het . 2 +intergenic NCAM2(dist=123535),LINC00317(dist=56430) chr21 23039183 23039183 T A het . 2 +intergenic NCAM2(dist=153853),LINC00317(dist=26112) chr21 23069501 23069501 G A het . 2 +intergenic NCAM2(dist=167680),LINC00317(dist=12285) chr21 23083328 23083328 C G het . 2 +intergenic LINC00317(dist=7785),LINC01425(dist=1881) chr21 23117424 23117424 C T het . 3 +intergenic LINC00317(dist=8067),LINC01425(dist=1599) chr21 23117706 23117706 A G het . 1 +ncRNA_intronic LINC01425 chr21 23119387 23119387 C T het . 3 +ncRNA_intronic LINC01425 chr21 23143264 23143264 G A het . 2 +intergenic LINC01425(dist=4795),LINC01687(dist=206947) chr21 23174530 23174530 A G het . 2 +intergenic LINC01425(dist=16252),LINC01687(dist=195490) chr21 23185987 23185987 T A het . 2 +intergenic LINC01425(dist=17245),LINC01687(dist=194497) chr21 23186980 23186980 C T het . 3 +intergenic LINC01425(dist=34709),LINC01687(dist=177033) chr21 23204444 23204444 C T het . 2 +intergenic LINC01425(dist=45402),LINC01687(dist=166340) chr21 23215137 23215137 A G het . 2 +intergenic LINC01425(dist=45445),LINC01687(dist=166297) chr21 23215180 23215180 T C het . 3 +intergenic LINC01425(dist=62242),LINC01687(dist=149500) chr21 23231977 23231977 T - het . 2 +intergenic LINC01425(dist=130051),LINC01687(dist=81691) chr21 23299786 23299786 G A het . 2 +intergenic LINC01425(dist=176656),LINC01687(dist=35086) chr21 23346391 23346391 T C het . 2 +intergenic LINC01425(dist=178531),LINC01687(dist=33211) chr21 23348266 23348266 A G het . 3 +ncRNA_intronic LINC01687 chr21 23400717 23400717 T C het . 2 +ncRNA_intronic LINC00308 chr21 23475538 23475538 G A het . 2 +ncRNA_intronic LINC00308 chr21 23476772 23476772 T C het . 2 +ncRNA_intronic LINC00308 chr21 23480167 23480167 G A het . 2 +intergenic LINC00308(dist=8840),MIR6130(dist=953919) chr21 23497687 23497687 A G het . 2 +intergenic LINC00308(dist=17823),MIR6130(dist=944936) chr21 23506670 23506670 A T het . 2 +intergenic LINC00308(dist=148665),MIR6130(dist=814094) chr21 23637512 23637512 C T het . 2 +intergenic LINC00308(dist=161791),MIR6130(dist=800968) chr21 23650638 23650638 A G het . 1 +intergenic LINC00308(dist=183478),MIR6130(dist=779278) chr21 23672325 23672328 CAAT - het . 2 +intergenic LINC00308(dist=184801),MIR6130(dist=777958) chr21 23673648 23673648 - T het . 2 +intergenic LINC00308(dist=189518),MIR6130(dist=773241) chr21 23678365 23678365 C T het . 5 +intergenic LINC00308(dist=190087),MIR6130(dist=772672) chr21 23678934 23678934 T C het . 2 +intergenic LINC00308(dist=196452),MIR6130(dist=766307) chr21 23685299 23685299 G A het . 1 +intergenic LINC00308(dist=196492),MIR6130(dist=766267) chr21 23685339 23685339 A G het . 1 +intergenic LINC00308(dist=197481),MIR6130(dist=765278) chr21 23686328 23686328 A G het . 2 +intergenic LINC00308(dist=197622),MIR6130(dist=765137) chr21 23686469 23686469 A G het . 2 +intergenic LINC00308(dist=197658),MIR6130(dist=765101) chr21 23686505 23686505 C T het . 2 +intergenic LINC00308(dist=199176),MIR6130(dist=763583) chr21 23688023 23688023 T C het . 3 +intergenic LINC00308(dist=199193),MIR6130(dist=763566) chr21 23688040 23688040 G A het . 1 +intergenic LINC00308(dist=210749),MIR6130(dist=752010) chr21 23699596 23699596 T G het . 2 +intergenic LINC00308(dist=235551),MIR6130(dist=727208) chr21 23724398 23724398 A T het . 2 +intergenic LINC00308(dist=274807),MIR6130(dist=687952) chr21 23763654 23763654 C T het . 2 +intergenic LINC00308(dist=297830),MIR6130(dist=664929) chr21 23786677 23786677 T C het . 2 +intergenic LINC00308(dist=300683),MIR6130(dist=662076) chr21 23789530 23789530 A G het . 2 +intergenic LINC00308(dist=317186),MIR6130(dist=645573) chr21 23806033 23806033 C T het . 2 +intergenic LINC00308(dist=358263),MIR6130(dist=604496) chr21 23847110 23847110 A T het . 5 +intergenic LINC00308(dist=421966),MIR6130(dist=540793) chr21 23910813 23910813 A C het . 3 +intergenic LINC00308(dist=433973),MIR6130(dist=528786) chr21 23922820 23922820 C T het . 2 +intergenic LINC00308(dist=443806),MIR6130(dist=518953) chr21 23932653 23932653 C T het . 2 +intergenic LINC00308(dist=446623),MIR6130(dist=516136) chr21 23935470 23935470 C T het . 2 +intergenic LINC00308(dist=447554),MIR6130(dist=515205) chr21 23936401 23936401 A G het . 5 +intergenic LINC00308(dist=447694),MIR6130(dist=515065) chr21 23936541 23936541 C T het . 2 +intergenic LINC00308(dist=451599),MIR6130(dist=511160) chr21 23940446 23940446 - TTT het . 1 +intergenic LINC00308(dist=451615),MIR6130(dist=511144) chr21 23940462 23940462 T A het . 2 +intergenic LINC00308(dist=453756),MIR6130(dist=509003) chr21 23942603 23942603 C T het . 2 +intergenic LINC00308(dist=474293),MIR6130(dist=488466) chr21 23963140 23963140 T C het . 3 +intergenic LINC00308(dist=474303),MIR6130(dist=488456) chr21 23963150 23963150 C G het . 3 +intergenic LINC00308(dist=475161),MIR6130(dist=487598) chr21 23964008 23964008 A C het . 2 +intergenic LINC00308(dist=475175),MIR6130(dist=487584) chr21 23964022 23964022 T G het . 2 +intergenic LINC00308(dist=533328),MIR6130(dist=429431) chr21 24022175 24022175 A G het . 1 +intergenic LINC00308(dist=537004),MIR6130(dist=425755) chr21 24025851 24025851 C T het . 3 +intergenic LINC00308(dist=541658),MIR6130(dist=421101) chr21 24030505 24030505 - C het . 2 +intergenic LINC00308(dist=620007),MIR6130(dist=342752) chr21 24108854 24108854 C T het . 2 +intergenic LINC00308(dist=627478),MIR6130(dist=335281) chr21 24116325 24116325 C T het . 2 +intergenic LINC00308(dist=783811),MIR6130(dist=178948) chr21 24272658 24272658 T C het . 2 +intergenic LINC00308(dist=836026),MIR6130(dist=126733) chr21 24324873 24324873 T C het . 1 +intergenic LINC00308(dist=856388),MIR6130(dist=106371) chr21 24345235 24345235 A G het . 2 +intergenic LINC00308(dist=874743),MIR6130(dist=88016) chr21 24363590 24363590 A T het . 3 +intergenic LINC00308(dist=899500),MIR6130(dist=63259) chr21 24388347 24388347 T - het . 2 +intergenic LINC00308(dist=900001),MIR6130(dist=62758) chr21 24388848 24388848 T G het . 1 +intergenic LINC00308(dist=907880),MIR6130(dist=54879) chr21 24396727 24396727 T A het . 2 +intergenic LINC00308(dist=930065),MIR6130(dist=32694) chr21 24418912 24418912 T C het . 2 +intergenic LINC00308(dist=947883),MIR6130(dist=14876) chr21 24436730 24436730 G A het . 2 +intergenic LINC00308(dist=949358),MIR6130(dist=13401) chr21 24438205 24438205 G T het . 2 +intergenic LINC00308(dist=949377),MIR6130(dist=13382) chr21 24438224 24438224 C G het . 1 +intergenic LINC00308(dist=957562),MIR6130(dist=5197) chr21 24446409 24446409 T A het . 2 +intergenic LINC00308(dist=957595),MIR6130(dist=5162) chr21 24446442 24446444 ATG - het . 2 +intergenic LINC00308(dist=957871),MIR6130(dist=4888) chr21 24446718 24446718 T A het . 2 +intergenic MIR6130(dist=2619),D21S2088E(dist=279093) chr21 24454333 24454333 G T het . 2 +intergenic MIR6130(dist=12282),D21S2088E(dist=269430) chr21 24463996 24463996 C T het . 2 +intergenic MIR6130(dist=23214),D21S2088E(dist=258498) chr21 24474928 24474928 C A het . 8 +intergenic MIR6130(dist=25319),D21S2088E(dist=256393) chr21 24477033 24477033 C T het . 2 +intergenic MIR6130(dist=126745),D21S2088E(dist=154967) chr21 24578459 24578459 T - het . 2 +intergenic MIR6130(dist=186672),D21S2088E(dist=95040) chr21 24638386 24638386 A G het . 2 +intergenic MIR6130(dist=209008),D21S2088E(dist=72704) chr21 24660722 24660722 C T het . 2 +intergenic MIR6130(dist=221214),D21S2088E(dist=60498) chr21 24672928 24672928 C T het . 2 +intergenic MIR6130(dist=240616),D21S2088E(dist=41096) chr21 24692330 24692330 T C het . 2 +intergenic MIR6130(dist=241659),D21S2088E(dist=40053) chr21 24693373 24693373 A C het . 2 +intergenic MIR6130(dist=244540),D21S2088E(dist=37172) chr21 24696254 24696254 G A het . 2 +intergenic MIR6130(dist=249585),D21S2088E(dist=32127) chr21 24701299 24701299 G A het . 2 +intergenic MIR6130(dist=280419),D21S2088E(dist=1293) chr21 24732133 24732133 C T het . 2 +ncRNA_intronic D21S2088E chr21 24735523 24735523 A G het . 2 +ncRNA_intronic D21S2088E chr21 24736181 24736181 A G het . 2 +intergenic D21S2088E(dist=6004),LINC01689(dist=913703) chr21 24763160 24763160 G A het . 24 +intergenic D21S2088E(dist=35373),LINC01689(dist=884334) chr21 24792529 24792529 T G het . 2 +intergenic D21S2088E(dist=38093),LINC01689(dist=881614) chr21 24795249 24795249 C T het . 3 +intergenic D21S2088E(dist=56251),LINC01689(dist=863456) chr21 24813407 24813407 G C het . 2 +intergenic D21S2088E(dist=64497),LINC01689(dist=855207) chr21 24821653 24821656 ACGT - het . 2 +intergenic D21S2088E(dist=64503),LINC01689(dist=855204) chr21 24821659 24821659 T G het . 2 +intergenic D21S2088E(dist=69483),LINC01689(dist=850224) chr21 24826639 24826639 A T het . 2 +intergenic D21S2088E(dist=72902),LINC01689(dist=846805) chr21 24830058 24830058 A T het . 2 +intergenic D21S2088E(dist=77582),LINC01689(dist=842125) chr21 24834738 24834738 - TCTT het . 2 +intergenic D21S2088E(dist=94686),LINC01689(dist=825021) chr21 24851842 24851842 A G het . 2 +intergenic D21S2088E(dist=174012),LINC01689(dist=745695) chr21 24931168 24931168 - TTAA het . 3 +intergenic D21S2088E(dist=189711),LINC01689(dist=729996) chr21 24946867 24946867 G A het . 3 +intergenic D21S2088E(dist=260520),LINC01689(dist=659187) chr21 25017676 25017676 C T het . 2 +intergenic D21S2088E(dist=326561),LINC01689(dist=593146) chr21 25083717 25083717 T G het . 2 +intergenic D21S2088E(dist=344549),LINC01689(dist=575158) chr21 25101705 25101705 G C het . 2 +intergenic D21S2088E(dist=362347),LINC01689(dist=557360) chr21 25119503 25119503 A G het . 2 +intergenic D21S2088E(dist=382102),LINC01689(dist=537605) chr21 25139258 25139258 G T het . 3 +intergenic D21S2088E(dist=387108),LINC01689(dist=532599) chr21 25144264 25144264 T G het . 2 +intergenic D21S2088E(dist=394547),LINC01689(dist=525160) chr21 25151703 25151703 - A het . 2 +intergenic D21S2088E(dist=399432),LINC01689(dist=520275) chr21 25156588 25156588 G A het . 2 +intergenic D21S2088E(dist=423197),LINC01689(dist=496510) chr21 25180353 25180353 C T het . 4 +intergenic D21S2088E(dist=439210),LINC01689(dist=480497) chr21 25196366 25196366 - CC het . 1 +intergenic D21S2088E(dist=439212),LINC01689(dist=480495) chr21 25196368 25196368 C T het . 1 +intergenic D21S2088E(dist=441928),LINC01689(dist=477779) chr21 25199084 25199084 G T het . 2 +intergenic D21S2088E(dist=467164),LINC01689(dist=452543) chr21 25224320 25224320 C A het . 3 +intergenic D21S2088E(dist=468717),LINC01689(dist=450990) chr21 25225873 25225873 - G het . 2 +intergenic D21S2088E(dist=589471),LINC01689(dist=330236) chr21 25346627 25346627 G T het . 2 +intergenic D21S2088E(dist=601634),LINC01689(dist=318073) chr21 25358790 25358790 - G het . 2 +intergenic D21S2088E(dist=640745),LINC01689(dist=278962) chr21 25397901 25397901 A G het . 2 +intergenic D21S2088E(dist=640775),LINC01689(dist=278932) chr21 25397931 25397931 T C het . 2 +intergenic D21S2088E(dist=647925),LINC01689(dist=271782) chr21 25405081 25405081 C A het . 3 +intergenic D21S2088E(dist=647936),LINC01689(dist=271771) chr21 25405092 25405092 C T het . 3 +intergenic D21S2088E(dist=665845),LINC01689(dist=253862) chr21 25423001 25423001 A - het . 2 +intergenic D21S2088E(dist=670081),LINC01689(dist=249626) chr21 25427237 25427237 T G het . 2 +intergenic D21S2088E(dist=670588),LINC01689(dist=249119) chr21 25427744 25427744 A C het . 3 +intergenic D21S2088E(dist=672660),LINC01689(dist=247047) chr21 25429816 25429816 - T het . 2 +intergenic D21S2088E(dist=712440),LINC01689(dist=207267) chr21 25469596 25469596 C G het . 1 +intergenic D21S2088E(dist=827410),LINC01689(dist=92297) chr21 25584566 25584566 C G het . 2 +intergenic D21S2088E(dist=882308),LINC01689(dist=37399) chr21 25639464 25639464 T C het . 4 +intergenic D21S2088E(dist=882331),LINC01689(dist=37376) chr21 25639487 25639487 T C het . 3 +ncRNA_intronic LINC01689 chr21 25690036 25690036 T C het . 3 +intergenic LINC01689(dist=37848),LINC01684(dist=69516) chr21 25731538 25731538 A G het . 2 +intergenic LINC01689(dist=37863),LINC01684(dist=69501) chr21 25731553 25731553 A C het . 2 +intergenic LINC01689(dist=45582),LINC01684(dist=61782) chr21 25739272 25739272 C A het . 3 +intergenic LINC01689(dist=53938),LINC01684(dist=53426) chr21 25747628 25747628 C T het . 2 +ncRNA_intronic LINC01684 chr21 25809953 25809953 C T het . 1 +ncRNA_intronic LINC01684 chr21 25914843 25914843 A C het . 2 +intergenic LINC01684(dist=7838),LINC01692(dist=284770) chr21 25928094 25928094 A G het . 4 +intergenic LINC01684(dist=21926),LINC01692(dist=270682) chr21 25942182 25942182 - A het . 2 +intergenic LINC01684(dist=22955),LINC01692(dist=269653) chr21 25943211 25943211 T C het . 2 +intergenic LINC01684(dist=40134),LINC01692(dist=252474) chr21 25960390 25960390 T C het . 3 +intergenic LINC01684(dist=115347),LINC01692(dist=177261) chr21 26035603 26035603 G T het . 3 +intergenic LINC01684(dist=154034),LINC01692(dist=138574) chr21 26074290 26074290 C T het . 2 +intergenic LINC01684(dist=167889),LINC01692(dist=124716) chr21 26088145 26088148 AAAG - het . 1 +intergenic LINC01684(dist=259728),LINC01692(dist=32880) chr21 26179984 26179984 G A het . 2 +intergenic LINC01684(dist=288481),LINC01692(dist=4127) chr21 26208737 26208737 A - het . 3 +ncRNA_intronic LINC01692 chr21 26217857 26217857 C T het . 2 +ncRNA_intronic LINC01692 chr21 26242360 26242360 C T het . 2 +ncRNA_intronic LINC01692 chr21 26264447 26264447 A T het . 2 +ncRNA_intronic LINC01692 chr21 26270378 26270378 G C het . 2 +ncRNA_intronic LINC01692 chr21 26334851 26334851 C G het . 2 +ncRNA_intronic LINC01692 chr21 26417570 26417570 - G het . 2 +intergenic LINC01692(dist=32113),LINC00158(dist=295964) chr21 26462169 26462169 G A het . 3 +intergenic LINC01692(dist=107935),LINC00158(dist=220142) chr21 26537991 26537991 A T het . 2 +intergenic LINC01692(dist=141760),LINC00158(dist=186317) chr21 26571816 26571816 T C het . 2 +intergenic LINC01692(dist=175928),LINC00158(dist=152149) chr21 26605984 26605984 C T het . 2 +intergenic LINC01692(dist=175962),LINC00158(dist=152115) chr21 26606018 26606018 A C het . 2 +intergenic LINC01692(dist=200166),LINC00158(dist=127911) chr21 26630222 26630222 C A het . 2 +intergenic LINC01692(dist=206771),LINC00158(dist=121306) chr21 26636827 26636827 A G het . 2 +intergenic LINC01692(dist=213425),LINC00158(dist=114652) chr21 26643481 26643481 T C het . 2 +intergenic LINC01692(dist=242457),LINC00158(dist=85620) chr21 26672513 26672513 T C het . 2 +intergenic LINC01692(dist=256287),LINC00158(dist=71790) chr21 26686343 26686343 T C het . 2 +intergenic LINC01692(dist=257229),LINC00158(dist=70847) chr21 26687285 26687286 GA TC het . 2 +intergenic LINC01692(dist=262895),LINC00158(dist=65182) chr21 26692951 26692951 A G het . 2 +intergenic LINC01692(dist=262927),LINC00158(dist=65150) chr21 26692983 26692983 C T het . 3 +intergenic LINC01692(dist=304245),LINC00158(dist=23832) chr21 26734301 26734301 G C het . 13 +ncRNA_intronic LINC00158 chr21 26766671 26766671 - G het . 2 +intergenic LINC00158(dist=85309),MIR155HG(dist=45135) chr21 26889322 26889322 C T het . 2 +intergenic LINC00158(dist=86782),MIR155HG(dist=43662) chr21 26890795 26890795 T C het . 2 +intronic MRPL39 chr21 26960189 26960189 T G het . 16 +intronic MRPL39 chr21 26961086 26961086 T C het . 7 +intronic MRPL39 chr21 26963392 26963394 AAA - het . 2 +intronic MRPL39 chr21 26963406 26963406 A C het . 2 +intronic MRPL39 chr21 26963408 26963408 A C het . 2 +intronic MRPL39 chr21 26965100 26965100 C A het . 5 +exonic MRPL39 chr21 26965148 26965148 G A het . 9 +exonic MRPL39 chr21 26965205 26965205 T C het . 15 +intronic MRPL39 chr21 26966317 26966317 A G het . 19 +intronic MRPL39 chr21 26966505 26966505 C G het . 2 +exonic MRPL39 chr21 26969703 26969703 T C het . 17 +intronic MRPL39 chr21 26972342 26972342 A G het . 3 +intronic MRPL39 chr21 26972415 26972415 C A het . 3 +intronic MRPL39 chr21 26973663 26973663 - TATACT het . 6 +intronic MRPL39 chr21 26975905 26975905 A G het . 3 +intronic MRPL39 chr21 26975995 26975995 G A het . 3 +intronic MRPL39 chr21 26976250 26976250 A G het . 7 +exonic MRPL39 chr21 26978950 26978950 A G het . 15 +intronic MRPL39 chr21 26979628 26979628 G A het . 2 +intergenic MRPL39(dist=18246),JAM2(dist=13547) chr21 26998047 26998047 C T het . 2 +intronic JAM2 chr21 27017179 27017182 TTTG - het . 4 +intronic JAM2 chr21 27019326 27019326 C T het . 3 +intronic JAM2 chr21 27043972 27043972 C G het . 2 +intronic JAM2 chr21 27046719 27046719 A G het . 2 +intronic JAM2 chr21 27056099 27056099 C A het . 8 +intronic JAM2 chr21 27065860 27065860 T C het . 2 +intronic JAM2 chr21 27069165 27069165 A G het . 2 +intronic GABPA chr21 27132954 27132954 T G het . 3 +intronic GABPA chr21 27141273 27141273 - ATTT het . 17 +intergenic GABPA(dist=9507),APP(dist=98583) chr21 27154278 27154278 A - het . 2 +intergenic GABPA(dist=29945),APP(dist=78145) chr21 27174716 27174716 A G het . 2 +intergenic GABPA(dist=96113),APP(dist=11977) chr21 27240884 27240884 C T het . 1 +intronic APP chr21 27254194 27254194 C T het . 15 +intronic APP chr21 27254279 27254279 C G het . 2 +intronic APP chr21 27264359 27264360 AA - het . 5 +intronic APP chr21 27264471 27264471 - CT het . 3 +intronic APP chr21 27266867 27266867 A T het . 2 +intronic APP chr21 27273362 27273362 - C het . 2 +exonic APP chr21 27284167 27284167 C T het . 41 +intronic APP chr21 27287244 27287244 T C het . 2 +intronic APP chr21 27326756 27326756 T A het . 10 +intronic APP chr21 27326859 27326859 G A het . 18 +intronic APP chr21 27327100 27327100 G A het . 16 +intronic APP chr21 27327170 27327170 A - het . 9 +intronic APP chr21 27327187 27327187 A - het . 8 +intronic APP chr21 27327248 27327248 T - het . 7 +intronic APP chr21 27327272 27327272 G - het . 5 +intronic APP chr21 27327278 27327278 G A het . 4 +intronic APP chr21 27327862 27327862 G C het . 10 +intronic APP chr21 27328175 27328175 T C het . 17 +intronic APP chr21 27331327 27331327 T - het . 2 +intronic APP chr21 27331331 27331331 A - het . 2 +intronic APP chr21 27331354 27331354 T - het . 4 +intronic APP chr21 27331369 27331369 C - het . 3 +intronic APP chr21 27369481 27369481 C T het . 2 +intronic APP chr21 27372818 27372818 C T het . 2 +intronic APP chr21 27372825 27372825 C T het . 2 +intronic APP chr21 27399950 27399950 G C het . 2 +intronic APP chr21 27403772 27403772 T C het . 3 +intronic APP chr21 27423131 27423131 C T het . 4 +intronic APP chr21 27423561 27423561 G T het . 13 +intronic APP chr21 27423708 27423708 - AA het . 4 +intronic APP chr21 27425859 27425859 G C het . 6 +intronic APP chr21 27451420 27451420 A G het . 3 +intronic APP chr21 27476590 27476590 A T het . 2 +intronic APP chr21 27501116 27501116 C A het . 2 +intronic APP chr21 27502468 27502468 T C het . 2 +intergenic APP(dist=65773),CYYR1-AS1(dist=156735) chr21 27609219 27609219 A - het . 2 +intergenic APP(dist=70812),CYYR1-AS1(dist=151696) chr21 27614258 27614258 G A het . 2 +intergenic APP(dist=71760),CYYR1-AS1(dist=150748) chr21 27615206 27615206 C G het . 1 +intergenic APP(dist=74851),CYYR1-AS1(dist=147657) chr21 27618297 27618297 G A het . 3 +intergenic APP(dist=75280),CYYR1-AS1(dist=147228) chr21 27618726 27618726 A G het . 2 +intergenic APP(dist=78328),CYYR1-AS1(dist=144180) chr21 27621774 27621774 A G het . 4 +intergenic APP(dist=84851),CYYR1-AS1(dist=137657) chr21 27628297 27628297 A G het . 2 +intergenic APP(dist=107808),CYYR1-AS1(dist=114700) chr21 27651254 27651254 G A het . 2 +intergenic APP(dist=113153),CYYR1-AS1(dist=109355) chr21 27656599 27656599 C G het . 1 +intergenic APP(dist=122938),CYYR1-AS1(dist=99570) chr21 27666384 27666384 C G het . 2 +intergenic APP(dist=151126),CYYR1-AS1(dist=71382) chr21 27694572 27694572 T G het . 2 +intergenic APP(dist=196334),CYYR1-AS1(dist=26174) chr21 27739780 27739780 T C het . 2 +intergenic APP(dist=209360),CYYR1-AS1(dist=13148) chr21 27752806 27752806 T C het . 2 +intergenic APP(dist=214495),CYYR1-AS1(dist=8013) chr21 27757941 27757941 C T het . 2 +ncRNA_intronic CYYR1-AS1 chr21 27774233 27774233 C G het . 3 +ncRNA_intronic CYYR1-AS1 chr21 27782592 27782592 C T het . 1 +ncRNA_intronic CYYR1-AS1 chr21 27790240 27790240 A - het . 2 +ncRNA_intronic CYYR1-AS1 chr21 27793437 27793437 C T het . 2 +exonic CYYR1 chr21 27852724 27852724 A G het . 13 +ncRNA_intronic CYYR1-AS1 chr21 27861792 27861792 G A het . 2 +ncRNA_intronic CYYR1-AS1 chr21 27872376 27872376 G T het . 2 +ncRNA_intronic CYYR1-AS1 chr21 27884497 27884497 G A het . 2 +ncRNA_exonic CYYR1-AS1 chr21 27923900 27923900 G A het . 2 +intergenic CYYR1(dist=28805),ADAMTS1(dist=234078) chr21 27974528 27974528 T - het . 2 +intergenic CYYR1(dist=51067),ADAMTS1(dist=211816) chr21 27996790 27996790 C T het . 2 +intergenic CYYR1(dist=59295),ADAMTS1(dist=203588) chr21 28005018 28005018 A G het . 3 +intergenic CYYR1(dist=66287),ADAMTS1(dist=196596) chr21 28012010 28012010 T C het . 2 +intergenic CYYR1(dist=66300),ADAMTS1(dist=196583) chr21 28012023 28012023 A G het . 2 +intergenic CYYR1(dist=67262),ADAMTS1(dist=195621) chr21 28012985 28012985 A T het . 2 +intergenic CYYR1(dist=67286),ADAMTS1(dist=195594) chr21 28013009 28013012 TTTA - het . 3 +intergenic CYYR1(dist=69100),ADAMTS1(dist=193783) chr21 28014823 28014823 A T het . 2 +intergenic CYYR1(dist=107701),ADAMTS1(dist=155182) chr21 28053424 28053424 G T het . 2 +intergenic CYYR1(dist=108726),ADAMTS1(dist=154157) chr21 28054449 28054449 A C het . 2 +intergenic CYYR1(dist=108757),ADAMTS1(dist=154126) chr21 28054480 28054480 A G het . 3 +intergenic CYYR1(dist=149023),ADAMTS1(dist=113860) chr21 28094746 28094746 T C het . 2 +intergenic CYYR1(dist=175864),ADAMTS1(dist=87019) chr21 28121587 28121587 T C het . 2 +intergenic CYYR1(dist=179019),ADAMTS1(dist=83864) chr21 28124742 28124742 A - het . 2 +intergenic CYYR1(dist=219607),ADAMTS1(dist=43276) chr21 28165330 28165330 A C het . 3 +intergenic CYYR1(dist=221920),ADAMTS1(dist=40963) chr21 28167643 28167643 T C het . 2 +intronic ADAMTS1 chr21 28210657 28210657 T C het . 20 +exonic ADAMTS1 chr21 28212760 28212760 G A het . 17 +intronic ADAMTS1 chr21 28215826 28215826 - ACA het . 20 +intronic ADAMTS1 chr21 28215837 28215837 C - het . 17 +intronic ADAMTS1 chr21 28215987 28215987 T C het . 5 +intronic ADAMTS1 chr21 28216038 28216038 C A het . 11 +intronic ADAMTS1 chr21 28216066 28216066 C T het . 14 +intronic ADAMTS1 chr21 28216240 28216240 G C het . 3 +exonic ADAMTS1 chr21 28216595 28216595 C G het . 7 +exonic ADAMTS1 chr21 28216692 28216692 G T het . 11 +exonic ADAMTS1 chr21 28217178 28217178 T G het . 10 +intergenic ADAMTS1(dist=23082),ADAMTS5(dist=49421) chr21 28240810 28240810 C T het . 2 +intergenic ADAMTS1(dist=23095),ADAMTS5(dist=49408) chr21 28240823 28240823 G C het . 1 +intergenic ADAMTS1(dist=23102),ADAMTS5(dist=49401) chr21 28240830 28240830 G C het . 1 +intergenic ADAMTS1(dist=33497),ADAMTS5(dist=39006) chr21 28251225 28251225 T A het . 2 +UTR3 ADAMTS5(NM_007038:c.*48T>C) chr21 28296324 28296324 A G het . 2 +exonic ADAMTS5 chr21 28302355 28302355 A G het . 10 +exonic ADAMTS5 chr21 28305212 28305212 C T het . 4 +intronic ADAMTS5 chr21 28307173 28307173 C T het . 4 +exonic ADAMTS5 chr21 28338423 28338423 C G het . 17 +exonic ADAMTS5 chr21 28338425 28338425 G A het . 17 +intergenic ADAMTS5(dist=20679),LINC00113(dist=734580) chr21 28360118 28360118 T G het . 2 +intergenic ADAMTS5(dist=84382),LINC00113(dist=670877) chr21 28423821 28423821 G T het . 2 +intergenic ADAMTS5(dist=137735),LINC00113(dist=617524) chr21 28477174 28477174 G A het . 2 +intergenic ADAMTS5(dist=155626),LINC00113(dist=599633) chr21 28495065 28495065 - T het . 3 +intergenic ADAMTS5(dist=176428),LINC00113(dist=578831) chr21 28515867 28515867 C G het . 7 +intergenic ADAMTS5(dist=176771),LINC00113(dist=578487) chr21 28516210 28516211 GC - het . 8 +intergenic ADAMTS5(dist=190695),LINC00113(dist=564564) chr21 28530134 28530134 A G het . 4 +intergenic ADAMTS5(dist=226924),LINC00113(dist=528335) chr21 28566363 28566363 G A het . 2 +intergenic ADAMTS5(dist=229363),LINC00113(dist=525896) chr21 28568802 28568802 A C het . 2 +intergenic ADAMTS5(dist=232099),LINC00113(dist=523160) chr21 28571538 28571538 G C het . 2 +intergenic ADAMTS5(dist=233294),LINC00113(dist=521965) chr21 28572733 28572733 G A het . 2 +intergenic ADAMTS5(dist=233541),LINC00113(dist=521718) chr21 28572980 28572980 C T het . 3 +intergenic ADAMTS5(dist=235216),LINC00113(dist=520043) chr21 28574655 28574655 A G het . 3 +intergenic ADAMTS5(dist=280870),LINC00113(dist=474389) chr21 28620309 28620309 C G het . 3 +intergenic ADAMTS5(dist=303786),LINC00113(dist=451473) chr21 28643225 28643225 A G het . 2 +intergenic ADAMTS5(dist=335702),LINC00113(dist=419557) chr21 28675141 28675141 G C het . 2 +intergenic ADAMTS5(dist=335710),LINC00113(dist=419549) chr21 28675149 28675149 - A het . 2 +intergenic ADAMTS5(dist=359225),LINC00113(dist=396034) chr21 28698664 28698664 G A het . 2 +intergenic ADAMTS5(dist=375625),LINC00113(dist=379634) chr21 28715064 28715064 T A het . 2 +intergenic ADAMTS5(dist=377975),LINC00113(dist=377284) chr21 28717414 28717414 A T het . 2 +intergenic ADAMTS5(dist=380669),LINC00113(dist=374590) chr21 28720108 28720108 A T het . 2 +intergenic ADAMTS5(dist=381254),LINC00113(dist=374005) chr21 28720693 28720693 A G het . 1 +intergenic ADAMTS5(dist=387366),LINC00113(dist=367893) chr21 28726805 28726805 C G het . 3 +intergenic ADAMTS5(dist=392162),LINC00113(dist=363097) chr21 28731601 28731601 G C het . 2 +intergenic ADAMTS5(dist=400114),LINC00113(dist=355145) chr21 28739553 28739553 G A het . 10 +intergenic ADAMTS5(dist=400269),LINC00113(dist=354990) chr21 28739708 28739708 T C het . 2 +intergenic ADAMTS5(dist=400509),LINC00113(dist=354750) chr21 28739948 28739948 C G het . 2 +intergenic ADAMTS5(dist=421220),LINC00113(dist=334039) chr21 28760659 28760659 A C het . 3 +intergenic ADAMTS5(dist=422706),LINC00113(dist=332553) chr21 28762145 28762145 T C het . 2 +intergenic ADAMTS5(dist=453520),LINC00113(dist=301739) chr21 28792959 28792959 C T het . 20 +intergenic ADAMTS5(dist=478387),LINC00113(dist=276872) chr21 28817826 28817826 T G het . 1 +intergenic ADAMTS5(dist=478397),LINC00113(dist=276862) chr21 28817836 28817836 A G het . 1 +intergenic ADAMTS5(dist=531258),LINC00113(dist=224001) chr21 28870697 28870697 C G het . 3 +intergenic ADAMTS5(dist=577974),LINC00113(dist=177285) chr21 28917413 28917413 T G het . 2 +intergenic ADAMTS5(dist=647633),LINC00113(dist=107626) chr21 28987072 28987072 - T het . 3 +intergenic ADAMTS5(dist=648837),LINC00113(dist=106422) chr21 28988276 28988276 G T het . 2 +intergenic ADAMTS5(dist=650048),LINC00113(dist=105211) chr21 28989487 28989487 C T het . 2 +intergenic ADAMTS5(dist=673990),LINC00113(dist=81269) chr21 29013429 29013429 G A het . 2 +intergenic ADAMTS5(dist=673996),LINC00113(dist=81263) chr21 29013435 29013435 G T het . 2 +intergenic ADAMTS5(dist=699859),LINC00113(dist=55400) chr21 29039298 29039298 A T het . 2 +intergenic ADAMTS5(dist=720642),LINC00113(dist=34617) chr21 29060081 29060081 T - het . 3 +intergenic ADAMTS5(dist=721031),LINC00113(dist=34228) chr21 29060470 29060470 A G het . 2 +intergenic ADAMTS5(dist=738963),LINC00113(dist=16296) chr21 29078402 29078402 G A het . 2 +intergenic LINC00113(dist=1014),LINC00314(dist=261116) chr21 29124566 29124566 A G het . 2 +intergenic LINC00113(dist=6987),LINC00314(dist=255143) chr21 29130539 29130539 G A het . 2 +intergenic LINC00113(dist=17411),LINC00314(dist=244719) chr21 29140963 29140963 C T het . 2 +intergenic LINC00113(dist=29704),LINC00314(dist=232426) chr21 29153256 29153256 A G het . 3 +intergenic LINC00113(dist=38420),LINC00314(dist=223710) chr21 29161972 29161972 G C het . 2 +intergenic LINC00113(dist=75247),LINC00314(dist=186883) chr21 29198799 29198799 T C het . 2 +intergenic LINC00113(dist=240976),LINC00314(dist=21154) chr21 29364528 29364528 G A het . 5 +intergenic LINC00113(dist=249184),LINC00314(dist=12946) chr21 29372736 29372736 C T het . 2 +intergenic LINC00314(dist=9689),LINC01697(dist=15516) chr21 29405217 29405217 A C het . 2 +ncRNA_intronic LINC01697 chr21 29437523 29437523 C T het . 2 +ncRNA_intronic LINC01697 chr21 29486414 29486414 - T het . 2 +ncRNA_intronic LINC01695,LINC01697 chr21 29495038 29495038 C A het . 2 +ncRNA_intronic LINC01695,LINC01697 chr21 29504096 29504096 G A het . 2 +ncRNA_intronic LINC01695 chr21 29561754 29561754 G T het . 2 +ncRNA_intronic LINC01695 chr21 29567471 29567473 AAC - het . 2 +ncRNA_intronic LINC01695 chr21 29590731 29590731 T C het . 1 +ncRNA_intronic LINC01695 chr21 29593506 29593507 AT - het . 2 +intergenic LINC01695(dist=24618),LINC00161(dist=286036) chr21 29625604 29625604 T G het . 2 +intergenic LINC01695(dist=93835),LINC00161(dist=216819) chr21 29694821 29694821 C T het . 3 +intergenic LINC01695(dist=125531),LINC00161(dist=185123) chr21 29726517 29726517 C - het . 2 +intergenic LINC01695(dist=150376),LINC00161(dist=160278) chr21 29751362 29751362 - G het . 3 +intergenic LINC01695(dist=175625),LINC00161(dist=135029) chr21 29776611 29776611 T G het . 2 +intergenic LINC01695(dist=180120),LINC00161(dist=130534) chr21 29781106 29781106 C T het . 2 +intergenic LINC01695(dist=185194),LINC00161(dist=125460) chr21 29786180 29786180 G A het . 2 +intergenic LINC01695(dist=198460),LINC00161(dist=112194) chr21 29799446 29799446 G C het . 2 +intergenic LINC01695(dist=207055),LINC00161(dist=103599) chr21 29808041 29808041 A G het . 2 +intergenic LINC01695(dist=214524),LINC00161(dist=96130) chr21 29815510 29815510 A G het . 2 +intergenic LINC01695(dist=231146),LINC00161(dist=79508) chr21 29832132 29832132 A C het . 2 +intergenic LINC01695(dist=231149),LINC00161(dist=79505) chr21 29832135 29832135 A C het . 2 +intergenic LINC01695(dist=241310),LINC00161(dist=69344) chr21 29842296 29842296 A C het . 2 +intergenic LINC01695(dist=246445),LINC00161(dist=64209) chr21 29847431 29847431 T A het . 2 +intergenic LINC01695(dist=257932),LINC00161(dist=52722) chr21 29858918 29858918 C T het . 2 +intergenic LINC01695(dist=268258),LINC00161(dist=42396) chr21 29869244 29869244 C G het . 3 +intergenic LINC01695(dist=291052),LINC00161(dist=19601) chr21 29892038 29892039 TT AC het . 3 +intergenic LINC00161(dist=11166),N6AMT1(dist=324543) chr21 29923843 29923843 T C het . 3 +intergenic LINC00161(dist=24448),N6AMT1(dist=311261) chr21 29937125 29937125 A T het . 3 +intergenic LINC00161(dist=26785),N6AMT1(dist=308924) chr21 29939462 29939462 T C het . 3 +intergenic LINC00161(dist=36114),N6AMT1(dist=299595) chr21 29948791 29948791 - TT het . 3 +intergenic LINC00161(dist=100695),N6AMT1(dist=235014) chr21 30013372 30013372 G T het . 2 +intergenic LINC00161(dist=127834),N6AMT1(dist=207875) chr21 30040511 30040511 C G het . 2 +intergenic LINC00161(dist=158364),N6AMT1(dist=177345) chr21 30071041 30071041 C G het . 2 +intergenic LINC00161(dist=165446),N6AMT1(dist=170263) chr21 30078123 30078123 A G het . 2 +intergenic LINC00161(dist=171798),N6AMT1(dist=163911) chr21 30084475 30084475 A C het . 2 +intergenic LINC00161(dist=171809),N6AMT1(dist=163900) chr21 30084486 30084486 T C het . 2 +intergenic LINC00161(dist=196578),N6AMT1(dist=139131) chr21 30109255 30109255 T C het . 2 +intergenic LINC00161(dist=315847),N6AMT1(dist=19862) chr21 30228524 30228524 G A het . 3 +intergenic LINC00161(dist=324829),N6AMT1(dist=10880) chr21 30237506 30237506 A G het . 3 +intergenic LINC00161(dist=329084),N6AMT1(dist=6625) chr21 30241761 30241761 T C het . 3 +intronic N6AMT1 chr21 30250382 30250382 T C het . 2 +exonic N6AMT1 chr21 30250555 30250555 T C het . 10 +exonic N6AMT1 chr21 30250615 30250615 T C het . 19 +intronic N6AMT1 chr21 30250812 30250812 T C het . 5 +intronic N6AMT1 chr21 30252088 30252088 T A het . 6 +exonic N6AMT1 chr21 30257560 30257560 C G het . 9 +exonic N6AMT1 chr21 30257568 30257568 T C het . 12 +intergenic N6AMT1(dist=18195),LTN1(dist=24576) chr21 30275890 30275890 G A het . 7 +intronic LTN1 chr21 30314227 30314227 - A het . 2 +intronic LTN1 chr21 30315730 30315730 G A het . 6 +intronic LTN1 chr21 30318466 30318466 T G het . 16 +intronic LTN1 chr21 30319938 30319938 - A het . 11 +intronic LTN1 chr21 30324644 30324644 T G het . 10 +intronic LTN1 chr21 30324755 30324755 G A het . 2 +exonic LTN1 chr21 30332911 30332911 C T het . 15 +intronic LTN1 chr21 30338293 30338293 - C het . 13 +exonic LTN1 chr21 30339120 30339120 C A het . 25 +exonic LTN1 chr21 30339234 30339234 T C het . 29 +exonic LTN1 chr21 30339362 30339362 T C het . 27 +intronic LTN1 chr21 30341741 30341741 A T het . 10 +exonic LTN1 chr21 30341891 30341891 A G het . 16 +intronic LTN1 chr21 30344942 30344942 G A het . 2 +intronic LTN1 chr21 30354610 30354610 T C het . 8 +intronic LTN1 chr21 30357307 30357307 C T het . 14 +upstream LTN1(dist=22) chr21 30365302 30365302 C A het . 4 +intergenic LTN1(dist=4830),RWDD2B(dist=7970) chr21 30370110 30370110 T G het . 13 +UTR5 RWDD2B(NM_001320724:c.-10750_-10752delTTT,NM_016940:c.-74_-76delTTT) chr21 30391672 30391674 AAA - het . 7 +UTR5 USP16(NM_006447:c.-3280G>A,NM_001032410:c.-3280G>A,NM_001001992:c.-3280G>A) chr21 30396955 30396955 G A het . 15 +intronic USP16 chr21 30400110 30400110 G A het . 17 +intronic USP16 chr21 30400444 30400444 - T het . 5 +exonic USP16 chr21 30408670 30408670 A T het . 16 +intronic MAP3K7CL chr21 30464141 30464141 G A het . 6 +UTR5;UTR3 MAP3K7CL(NM_001286622:c.-82G>T,NM_001286619:c.-24295G>T);MAP3K7CL(NM_001286623:c.*6G>T) chr21 30481371 30481371 G T het . 8 +intronic MAP3K7CL chr21 30485543 30485543 T C het . 2 +intronic MAP3K7CL chr21 30491939 30491939 G A het . 2 +intronic MAP3K7CL chr21 30491944 30491944 T C het . 1 +intronic MAP3K7CL chr21 30498744 30498744 T C het . 2 +intronic MAP3K7CL chr21 30498781 30498781 A T het . 2 +intronic MAP3K7CL chr21 30501389 30501389 G T het . 2 +intronic MAP3K7CL chr21 30505933 30505934 TT CC het . 2 +intronic MAP3K7CL chr21 30517127 30517127 C T het . 2 +intronic MAP3K7CL chr21 30517777 30517777 A T het . 1 +intronic MAP3K7CL chr21 30517785 30517785 A C het . 1 +intronic MAP3K7CL chr21 30532147 30532147 A - het . 5 +ncRNA_intronic LINC00189 chr21 30592996 30592996 T C het . 3 +ncRNA_intronic LINC00189 chr21 30613214 30613214 T C het . 3 +intronic BACH1 chr21 30683033 30683033 C A het . 2 +intronic BACH1 chr21 30714598 30714598 G A het . 2 +exonic BACH1 chr21 30714776 30714776 T C het . 23 +UTR3 BACH1(NM_001186:c.*121T>C,NM_206866:c.*121T>C) chr21 30715275 30715275 T C het . 1 +intergenic BACH1-IT2(dist=84093),BACH1-IT3(dist=37974) chr21 30830393 30830393 T G het . 19 +intergenic BACH1-IT2(dist=119340),BACH1-IT3(dist=2727) chr21 30865640 30865640 G A het . 4 +downstream BACH1-IT3(dist=535) chr21 30873237 30873237 T C het . 2 +intergenic BACH1-IT3(dist=4587),GRIK1(dist=31965) chr21 30877289 30877289 G A het . 2 +UTR3 GRIK1(NM_000830:c.*1143T>C) chr21 30924733 30924733 A G het . 2 +ncRNA_exonic GRIK1-AS2 chr21 30969901 30969901 T C het . 8 +ncRNA_exonic GRIK1-AS2 chr21 30970005 30970005 C G het . 9 +ncRNA_intronic GRIK1-AS2 chr21 30983765 30983765 G C het . 2 +ncRNA_intronic GRIK1-AS2 chr21 31000201 31000201 C T het . 2 +ncRNA_intronic GRIK1-AS2 chr21 31002803 31002803 G T het . 13 +intronic GRIK1 chr21 31012252 31012252 T A het . 2 +intronic GRIK1 chr21 31027729 31027729 A - het . 3 +intronic GRIK1 chr21 31108846 31108846 T C het . 2 +ncRNA_intronic GRIK1-AS1 chr21 31135702 31135702 - C het . 2 +intronic GRIK1 chr21 31157378 31157378 T C het . 2 +intronic GRIK1 chr21 31161057 31161057 A G het . 2 +intronic GRIK1 chr21 31176765 31176765 A T het . 2 +intronic GRIK1 chr21 31181849 31181849 G T het . 3 +intronic GRIK1 chr21 31181856 31181856 C T het . 3 +intronic GRIK1 chr21 31182829 31182829 A G het . 2 +intronic GRIK1 chr21 31189569 31189569 G A het . 2 +intronic GRIK1 chr21 31207718 31207718 T A het . 2 +intronic GRIK1 chr21 31208210 31208210 C T het . 3 +intronic GRIK1 chr21 31208225 31208225 T C het . 3 +intronic GRIK1 chr21 31233994 31233994 T C het . 20 +intronic GRIK1 chr21 31292936 31292936 C T het . 2 +intronic GRIK1 chr21 31296354 31296354 C T het . 2 +intergenic GRIK1(dist=71927),CLDN17(dist=153944) chr21 31384297 31384297 A G het . 2 +intergenic GRIK1(dist=86474),CLDN17(dist=139397) chr21 31398844 31398844 - A het . 2 +intergenic GRIK1(dist=90812),CLDN17(dist=135059) chr21 31403182 31403182 A G het . 2 +intergenic GRIK1(dist=93985),CLDN17(dist=131886) chr21 31406355 31406355 A G het . 3 +intergenic CLDN17(dist=2063),LINC00307(dist=40435) chr21 31541034 31541034 C A het . 2 +intergenic CLDN8(dist=16418),KRTAP24-1(dist=48740) chr21 31604887 31604887 A C het . 2 +intergenic CLDN8(dist=20248),KRTAP24-1(dist=44910) chr21 31608717 31608717 G C het . 2 +intergenic CLDN8(dist=29103),KRTAP24-1(dist=36055) chr21 31617572 31617572 A G het . 2 +intergenic CLDN8(dist=29326),KRTAP24-1(dist=35832) chr21 31617795 31617795 C T het . 2 +intergenic CLDN8(dist=29366),KRTAP24-1(dist=35792) chr21 31617835 31617835 A T het . 2 +intergenic CLDN8(dist=29806),KRTAP24-1(dist=35352) chr21 31618275 31618275 T C het . 2 +intergenic CLDN8(dist=31812),KRTAP24-1(dist=33346) chr21 31620281 31620281 G A het . 2 +intergenic CLDN8(dist=33715),KRTAP24-1(dist=31443) chr21 31622184 31622184 C T het . 2 +intergenic CLDN8(dist=41665),KRTAP24-1(dist=23493) chr21 31630134 31630134 G A het . 1 +exonic KRTAP24-1 chr21 31655212 31655212 A C het . 4 +exonic KRTAP25-1 chr21 31661691 31661691 A G het . 20 +intergenic KRTAP25-1(dist=6132),KRTAP26-1(dist=23486) chr21 31667964 31667964 C A het . 2 +exonic KRTAP27-1 chr21 31709691 31709691 G A het . 31 +exonic KRTAP13-2 chr21 31744127 31744127 A T het . 21 +intergenic KRTAP13-1(dist=8842),KRTAP13-3(dist=19718) chr21 31777980 31777980 T C het . 2 +exonic KRTAP13-4 chr21 31802768 31802768 G A het . 17 +exonic KRTAP15-1 chr21 31812772 31812772 C A het . 21 +intergenic KRTAP15-1(dist=1590),KRTAP19-1(dist=37241) chr21 31814777 31814777 A G het . 2 +UTR3 KRTAP19-2(NM_181608:c.*68G>A) chr21 31859441 31859441 C T het . 5 +UTR5 KRTAP19-2(NM_181608:c.-10C>T) chr21 31859677 31859677 G A het . 7 +UTR3 KRTAP19-3(NM_181609:c.*183C>G) chr21 31863847 31863847 G C het . 2 +exonic KRTAP19-4 chr21 31869286 31869286 T C het . 20 +exonic;splicing KRTAP19-6;KRTAP19-6(NM_001303120:exon1:c.170+1C>-,NM_001303120:exon2:c.171-1C>-) chr21 31913982 31913982 G - het . 16 +exonic KRTAP19-6 chr21 31914000 31914000 T A het . 17 +intergenic KRTAP19-6(dist=16195),KRTAP19-7(dist=2816) chr21 31930378 31930378 T C het . 3 +exonic KRTAP6-3 chr21 31964916 31964916 A C het . 8 +upstream KRTAP22-1(dist=64) chr21 31973342 31973342 C G het . 9 +upstream KRTAP22-1(dist=1) chr21 31973405 31973405 C T het . 11 +exonic KRTAP22-1 chr21 31973516 31973516 T A het . 13 +intergenic KRTAP22-1(dist=3295),KRTAP6-1(dist=9009) chr21 31976996 31976996 G C het . 2 +exonic KRTAP6-1 chr21 31986097 31986097 G A het . 16 +upstream KRTAP20-4(dist=82) chr21 31992864 31992864 A G het . 5 +intergenic KRTAP20-4(dist=2939),KRTAP20-2(dist=11447) chr21 31996108 31996108 G A het . 2 +intergenic KRTAP20-4(dist=11825),KRTAP20-2(dist=2558) chr21 32004994 32004997 AAAA - het . 2 +upstream KRTAP20-3(dist=13) chr21 32015170 32015170 T C het . 7 +splicing KRTAP7-1(NM_181606:exon1:c.47+1T>-,NM_181606:exon2:c.48-1T>-) chr21 32201970 32201970 A - het . 3 +intergenic KRTAP7-1(dist=17223),KRTAP11-1(dist=33690) chr21 32219274 32219274 G A het . 2 +intergenic KRTAP7-1(dist=22330),KRTAP11-1(dist=28583) chr21 32224381 32224381 - G het . 2 +intergenic KRTAP19-8(dist=21994),TIAM1(dist=57947) chr21 32432789 32432789 C T het . 2 +intergenic KRTAP19-8(dist=22085),TIAM1(dist=57856) chr21 32432880 32432880 - A het . 4 +intergenic KRTAP19-8(dist=22177),TIAM1(dist=57764) chr21 32432972 32432972 A T het . 13 +intergenic KRTAP19-8(dist=23505),TIAM1(dist=56436) chr21 32434300 32434300 T C het . 9 +intergenic KRTAP19-8(dist=23897),TIAM1(dist=56044) chr21 32434692 32434692 C T het . 18 +intergenic KRTAP19-8(dist=23971),TIAM1(dist=55970) chr21 32434766 32434766 C T het . 9 +intergenic KRTAP19-8(dist=24539),TIAM1(dist=55402) chr21 32435334 32435334 T C het . 26 +intergenic KRTAP19-8(dist=24552),TIAM1(dist=55389) chr21 32435347 32435347 A G het . 28 +intergenic KRTAP19-8(dist=24694),TIAM1(dist=55247) chr21 32435489 32435489 G A het . 4 +intergenic KRTAP19-8(dist=24790),TIAM1(dist=55151) chr21 32435585 32435585 C T het . 3 +intergenic KRTAP19-8(dist=34509),TIAM1(dist=45432) chr21 32445304 32445304 T C het . 2 +intronic TIAM1 chr21 32508094 32508094 G C het . 7 +intronic TIAM1 chr21 32524852 32524852 A G het . 3 +intronic TIAM1 chr21 32525302 32525302 A C het . 4 +intronic TIAM1 chr21 32525345 32525345 G A het . 4 +intronic TIAM1 chr21 32526525 32526525 C T het . 8 +intronic TIAM1 chr21 32567801 32567801 G A het . 10 +intronic TIAM1 chr21 32568326 32568326 C G het . 3 +intronic TIAM1 chr21 32575405 32575405 C T het . 10 +intronic TIAM1 chr21 32585809 32585809 C T het . 18 +exonic TIAM1 chr21 32589903 32589903 G C het . 7 +intronic TIAM1 chr21 32597973 32597974 AA - het . 5 +intronic TIAM1 chr21 32598003 32598003 A T het . 8 +exonic TIAM1 chr21 32638549 32638550 CC AT het . 40 +intronic TIAM1 chr21 32705788 32705788 C T het . 1 +intronic TIAM1 chr21 32819913 32819913 G A het . 3 +intronic TIAM1 chr21 32825090 32825090 G T het . 12 +intronic TIAM1 chr21 32866982 32866982 C T het . 2 +intronic TIAM1 chr21 32867639 32867639 T C het . 5 +intronic TIAM1 chr21 32873828 32873828 G A het . 5 +intronic TIAM1 chr21 32873838 32873838 G A het . 5 +intronic TIAM1 chr21 32880627 32880627 C G het . 4 +intronic TIAM1 chr21 32904167 32904167 T C het . 2 +intergenic LOC150051(dist=2087),SOD1(dist=97048) chr21 32934887 32934887 - AAAG het . 2 +intergenic LOC150051(dist=5442),SOD1(dist=93693) chr21 32938242 32938242 C G het . 2 +intergenic LOC150051(dist=57329),SOD1(dist=41806) chr21 32990129 32990129 T G het . 2 +intergenic LOC150051(dist=57334),SOD1(dist=41801) chr21 32990134 32990134 C G het . 2 +intergenic LOC150051(dist=92867),SOD1(dist=6268) chr21 33025667 33025667 C T het . 3 +intronic SCAF4 chr21 33046283 33046283 T A het . 2 +intronic SCAF4 chr21 33068578 33068578 C A het . 5 +intronic SCAF4 chr21 33077814 33077817 TTAC - het . 11 +intronic SCAF4 chr21 33094096 33094097 CA AC het . 2 +intergenic SCAF4(dist=40079),HUNK(dist=101118) chr21 33144510 33144510 T A het . 2 +intronic HUNK chr21 33312540 33312540 T - het . 8 +intronic HUNK chr21 33343393 33343393 - T het . 3 +exonic HUNK chr21 33368188 33368188 T C het . 25 +intronic HUNK chr21 33368708 33368708 T A het . 2 +exonic HUNK chr21 33370900 33370900 T C het . 6 +intergenic HUNK(dist=14261),LINC00159(dist=62156) chr21 33390638 33390638 A G het . 2 +intergenic LINC00159(dist=30958),MIS18A(dist=150964) chr21 33489566 33489566 - A het . 2 +intergenic LINC00159(dist=30971),MIS18A(dist=150951) chr21 33489579 33489579 T - het . 2 +intergenic LINC00159(dist=67028),MIS18A(dist=114894) chr21 33525636 33525636 A G het . 2 +intergenic LINC00159(dist=70735),MIS18A(dist=111187) chr21 33529343 33529343 C T het . 2 +intergenic LINC00159(dist=70745),MIS18A(dist=111177) chr21 33529353 33529353 C T het . 2 +intergenic LINC00159(dist=107965),MIS18A(dist=73957) chr21 33566573 33566573 T C het . 2 +intergenic LINC00159(dist=107970),MIS18A(dist=73952) chr21 33566578 33566578 A G het . 2 +intergenic LINC00159(dist=124736),MIS18A(dist=57186) chr21 33583344 33583344 T A het . 2 +intronic MRAP chr21 33666201 33666201 G T het . 2 +UTR3 MRAP(NM_178817:c.*108A>G,NM_001285394:c.*108A>G),URB1(NM_014825:c.*2814T>C) chr21 33684415 33684415 A G het . 15 +UTR3 URB1(NM_014825:c.*681G>A) chr21 33686548 33686548 C T het . 2 +exonic URB1 chr21 33688865 33688865 A G het . 12 +exonic URB1 chr21 33694224 33694224 C G het . 17 +intronic URB1 chr21 33694257 33694257 A T het . 13 +intronic URB1 chr21 33713885 33713885 T C het . 22 +exonic URB1 chr21 33719400 33719400 A G het . 7 +exonic URB1 chr21 33719695 33719695 C T het . 14 +intronic URB1 chr21 33721427 33721427 A G het . 3 +intronic URB1 chr21 33734410 33734410 G A het . 4 +intronic URB1 chr21 33738920 33738920 G C het . 6 +intronic URB1 chr21 33740676 33740676 T C het . 9 +intronic URB1 chr21 33740703 33740703 T - het . 13 +intronic URB1 chr21 33747924 33747924 A G het . 4 +ncRNA_exonic SNORA80A chr21 33749533 33749533 A C het . 16 +exonic URB1 chr21 33755763 33755763 G A het . 16 +exonic URB1 chr21 33757947 33757947 A T het . 19 +ncRNA_exonic URB1-AS1 chr21 33765560 33765560 C T het . 6 +intronic EVA1C chr21 33808522 33808522 T C het . 2 +intronic EVA1C chr21 33839992 33839992 T G het . 8 +intronic EVA1C chr21 33854206 33854206 T C het . 2 +intronic EVA1C chr21 33867280 33867280 A G het . 11 +intronic EVA1C chr21 33873558 33873558 - T het . 2 +intergenic EVA1C(dist=13638),C21orf59-TCP10L(dist=44702) chr21 33901348 33901348 - A het . 3 +intergenic EVA1C(dist=38369),C21orf59-TCP10L(dist=19971) chr21 33926079 33926079 A - het . 3 +intronic C21orf59-TCP10L,CFAP298 chr21 33982073 33982075 AAA - het . 3 +intergenic C21orf59-TCP10L(dist=12285),SYNJ1(dist=3603) chr21 33997466 33997466 A G het . 11 +exonic SYNJ1 chr21 34003928 34003928 - AGTATT het . 28 +intronic SYNJ1 chr21 34017857 34017857 T A het . 4 +intronic SYNJ1 chr21 34018437 34018437 C T het . 8 +intronic SYNJ1 chr21 34038113 34038113 T A het . 4 +intronic SYNJ1 chr21 34050940 34050940 A - het . 8 +intronic SYNJ1 chr21 34050942 34050942 A - het . 8 +intronic SYNJ1 chr21 34059207 34059207 C T het . 3 +intronic SYNJ1 chr21 34072139 34072139 T C het . 9 +intronic SYNJ1 chr21 34098927 34098927 G A het . 4 +ncRNA_intronic PAXBP1-AS1 chr21 34107579 34107579 T G het . 3 +intronic PAXBP1 chr21 34115509 34115509 T C het . 20 +intronic PAXBP1 chr21 34118149 34118149 G A het . 13 +intronic PAXBP1 chr21 34128717 34128717 G A het . 9 +intronic PAXBP1 chr21 34133254 34133254 G T het . 8 +ncRNA_intronic C21orf62-AS1 chr21 34157236 34157236 T - het . 13 +ncRNA_intronic C21orf62-AS1 chr21 34161495 34161495 T C het . 2 +exonic C21orf62 chr21 34166190 34166190 A T het . 25 +exonic C21orf62 chr21 34166343 34166343 C T het . 11 +ncRNA_intronic C21orf62-AS1 chr21 34169181 34169181 A G het . 7 +ncRNA_exonic C21orf62-AS1 chr21 34169317 34169317 - T het . 18 +intergenic C21orf62(dist=37862),LINC01690(dist=107281) chr21 34223915 34223915 T C het . 5 +intergenic C21orf62(dist=105587),LINC01690(dist=39556) chr21 34291640 34291640 G A het . 3 +intergenic C21orf62(dist=113005),LINC01690(dist=32138) chr21 34299058 34299058 T C het . 2 +intergenic C21orf62(dist=116976),LINC01690(dist=28167) chr21 34303029 34303029 T C het . 2 +intergenic C21orf62(dist=122582),LINC01690(dist=22561) chr21 34308635 34308635 G A het . 2 +intergenic C21orf62(dist=132951),LINC01690(dist=12192) chr21 34319004 34319004 G A het . 4 +intergenic LINC01690(dist=35559),OLIG2(dist=29785) chr21 34368431 34368431 A T het . 2 +intergenic OLIG2(dist=11404),LINC00945(dist=17228) chr21 34412907 34412907 T C het . 3 +ncRNA_exonic LINC00945 chr21 34436973 34436973 G A het . 3 +intergenic OLIG1(dist=33048),LOC101928107(dist=6234) chr21 34477776 34477776 T G het . 2 +ncRNA_exonic LINC01548 chr21 34537929 34537929 A G het . 14 +ncRNA_intronic LINC01548 chr21 34538065 34538065 - T het . 15 +ncRNA_intronic LINC01548 chr21 34540594 34540594 - T het . 2 +intergenic LINC01548(dist=20876),IFNAR2(dist=38783) chr21 34563417 34563417 T - het . 2 +intergenic LINC01548(dist=22958),IFNAR2(dist=36701) chr21 34565499 34565499 T C het . 2 +intergenic LINC01548(dist=25210),IFNAR2(dist=34449) chr21 34567751 34567751 - G het . 2 +intergenic LINC01548(dist=44995),IFNAR2(dist=14664) chr21 34587536 34587536 - G het . 2 +intronic IFNAR2 chr21 34602794 34602794 G T het . 2 +intronic IFNAR2 chr21 34602796 34602796 A C het . 2 +intronic IFNAR2 chr21 34602934 34602934 T C het . 7 +exonic IFNAR2 chr21 34614250 34614250 T C het . 18 +exonic IFNAR2 chr21 34614255 34614255 T G het . 20 +intronic IFNAR2 chr21 34616157 34616157 T C het . 6 +intronic IFNAR2 chr21 34617213 34617213 T C het . 9 +intronic IFNAR2 chr21 34624386 34624386 - ATCT het . 4 +intronic IFNAR2 chr21 34624917 34624917 A G het . 10 +intronic IFNAR2 chr21 34634808 34634808 C T het . 4 +intronic IFNAR2 chr21 34635065 34635065 C T het . 3 +intronic IL10RB chr21 34638859 34638859 G A het . 7 +intronic IL10RB chr21 34648808 34648808 C T het . 6 +intronic IL10RB chr21 34649123 34649123 G A het . 11 +intronic IL10RB chr21 34649941 34649941 C T het . 4 +intronic IL10RB chr21 34649969 34649969 - T het . 2 +intronic IL10RB chr21 34660677 34660678 CG - het . 10 +intronic IL10RB chr21 34661145 34661145 A G het . 2 +intronic IL10RB chr21 34666160 34666160 A G het . 4 +intronic IL10RB chr21 34666376 34666376 A G het . 14 +intronic IL10RB chr21 34666390 34666390 G A het . 12 +UTR3 IL10RB(NM_000628:c.*85A>G) chr21 34668747 34668747 A G het . 19 +UTR3 IL10RB(NM_000628:c.*314G>A) chr21 34668976 34668976 G A het . 9 +intergenic IL10RB(dist=23011),IFNAR1(dist=4664) chr21 34692550 34692550 T C het . 1 +UTR5 IFNAR1(NM_000629:c.-97T>C) chr21 34697264 34697264 T C het . 6 +intronic IFNAR1 chr21 34698385 34698385 C A het . 2 +intronic IFNAR1 chr21 34726127 34726127 T A het . 12 +intergenic IFNAR1(dist=12602),IFNGR2(dist=30472) chr21 34744730 34744730 T - het . 3 +intronic IFNGR2 chr21 34793706 34793706 C T het . 5 +intronic IFNGR2 chr21 34799350 34799350 C G het . 23 +intronic IFNGR2 chr21 34804966 34804966 T C het . 18 +intronic IFNGR2 chr21 34805197 34805197 C T het . 12 +intronic IFNGR2 chr21 34809049 34809049 T A het . 13 +intergenic IFNGR2(dist=7160),TMEM50B(dist=4460) chr21 34816988 34816988 C T het . 2 +intergenic IFNGR2(dist=9221),TMEM50B(dist=2399) chr21 34819049 34819049 T C het . 2 +intronic TMEM50B chr21 34823252 34823252 C T het . 13 +intronic TMEM50B chr21 34823304 34823304 C A het . 15 +intronic TMEM50B chr21 34829959 34829959 A - het . 3 +intronic TMEM50B chr21 34837623 34837623 C A het . 7 +intronic TMEM50B chr21 34845307 34845307 G A het . 3 +intronic TMEM50B chr21 34848517 34848517 G C het . 3 +intergenic TMEM50B(dist=1510),DNAJC28(dist=6536) chr21 34853826 34853826 - G het . 2 +intergenic TMEM50B(dist=5524),DNAJC28(dist=2522) chr21 34857840 34857840 T C het . 3 +exonic DNAJC28 chr21 34860750 34860754 AATTA - het . 15 +intergenic DNAJC28(dist=6960),GART(dist=5248) chr21 34870990 34870990 G A het . 33 +intergenic DNAJC28(dist=7078),GART(dist=5130) chr21 34871108 34871108 T - het . 12 +intergenic DNAJC28(dist=7103),GART(dist=5105) chr21 34871133 34871133 C T het . 14 +exonic GART chr21 34883618 34883618 T C het . 33 +intronic GART chr21 34891096 34891096 G A het . 5 +intronic GART chr21 34892896 34892896 C T het . 9 +exonic GART chr21 34894574 34894574 C G het . 13 +intronic GART chr21 34894623 34894623 T C het . 10 +intronic GART chr21 34894797 34894797 C A het . 2 +exonic GART chr21 34897113 34897113 C T het . 23 +intronic GART chr21 34903298 34903298 - T het . 5 +intronic GART chr21 34903876 34903876 T - het . 6 +upstream GART,SON(dist=19) chr21 34915324 34915325 CG GC het . 19 +intronic SON chr21 34919945 34919948 AATT - het . 3 +exonic SON chr21 34924243 34924243 T C het . 20 +exonic SON chr21 34925142 34925142 C T het . 11 +exonic SON chr21 34925689 34925689 G A het . 7 +exonic SON chr21 34926260 34926260 C T het . 11 +intronic SON chr21 34929422 34929422 T C het . 9 +intronic SON chr21 34939390 34939390 A G het . 5 +intronic SON chr21 34948494 34948494 - T het . 2 +intronic SON chr21 34948531 34948531 - T het . 3 +exonic SON chr21 34948684 34948684 - A het . 17 +exonic SON chr21 34948697 34948697 A - het . 18 +intronic DONSON chr21 34954170 34954170 A G het . 11 +intronic DONSON chr21 34954603 34954603 G - het . 7 +intronic DONSON chr21 34959776 34959776 G A het . 9 +intronic CRYZL1 chr21 34968606 34968607 TA - het . 7 +intronic CRYZL1 chr21 34975878 34975878 C A het . 15 +intronic CRYZL1 chr21 34985754 34985754 T C het . 9 +intronic CRYZL1 chr21 35012066 35012066 A T het . 3 +intronic ITSN1 chr21 35025725 35025725 C T het . 3 +intronic ITSN1 chr21 35085831 35085831 - C het . 2 +intronic ITSN1 chr21 35097437 35097438 TG - het . 2 +intronic ITSN1 chr21 35124253 35124253 A G het . 13 +intronic ITSN1 chr21 35134084 35134084 - C het . 2 +exonic ITSN1 chr21 35169819 35169819 G T het . 34 +intronic ITSN1 chr21 35209190 35209190 C A het . 4 +intronic ITSN1 chr21 35229028 35229029 TG - het . 7 +intronic ITSN1 chr21 35237349 35237349 A G het . 2 +exonic ITSN1 chr21 35237608 35237608 T C het . 2 +intronic ITSN1 chr21 35239405 35239405 A T het . 2 +intronic ITSN1 chr21 35239734 35239734 C T het . 3 +intronic ITSN1 chr21 35242490 35242490 G A het . 2 +intronic ITSN1 chr21 35247611 35247611 G A het . 9 +intronic ITSN1 chr21 35252007 35252007 A G het . 2 +intronic ITSN1 chr21 35254453 35254453 T G het . 5 +intronic ITSN1 chr21 35260419 35260426 GGTCCCTC - het . 11 +exonic ITSN1 chr21 35260481 35260481 T C het . 10 +intronic ATP5PO chr21 35275955 35275955 G A het . 20 +intronic ATP5PO chr21 35278919 35278919 - CT het . 4 +intronic ATP5PO chr21 35279500 35279500 G A het . 3 +exonic ATP5PO chr21 35281393 35281393 A G het . 14 +exonic ATP5PO chr21 35281421 35281421 T C het . 20 +intronic ATP5PO chr21 35284734 35284734 A G het . 9 +intergenic ATP5PO(dist=6932),LINC00649(dist=8336) chr21 35295090 35295090 A G het . 3 +ncRNA_intronic LINC00649 chr21 35322690 35322690 A G het . 2 +intergenic LOC101928126(dist=5045),SLC5A3(dist=90786) chr21 35355037 35355037 G - het . 2 +exonic SLC5A3 chr21 35467645 35467645 A G het . 9 +exonic SLC5A3 chr21 35469193 35469193 C A het . 16 +UTR3 SLC5A3(NM_006933:c.*54_*55insA) chr21 35469708 35469708 - A het . 2 +UTR3 SLC5A3(NM_006933:c.*72_*73insT) chr21 35469726 35469726 - T het . 2 +intergenic LINC00310(dist=23493),KCNE2(dist=150610) chr21 35585713 35585713 A G het . 2 +intergenic LINC00310(dist=25983),KCNE2(dist=148120) chr21 35588203 35588203 T - het . 2 +intergenic LINC00310(dist=26588),KCNE2(dist=147515) chr21 35588808 35588808 G A het . 2 +intergenic LINC00310(dist=121003),KCNE2(dist=53100) chr21 35683223 35683223 G T het . 2 +intergenic LINC00310(dist=141643),KCNE2(dist=32460) chr21 35703863 35703863 T C het . 3 +intergenic LINC00310(dist=154346),KCNE2(dist=19757) chr21 35716566 35716566 C T het . 2 +intergenic LINC00310(dist=169369),KCNE2(dist=4734) chr21 35731589 35731589 A T het . 4 +intergenic LINC00310(dist=170286),KCNE2(dist=3817) chr21 35732506 35732506 C G het . 3 +intergenic SMIM11A(dist=1904),FAM243A(dist=9054) chr21 35763356 35763356 C T het . 2 +intergenic SMIM11A(dist=3007),FAM243A(dist=7951) chr21 35764459 35764459 T A het . 2 +intergenic FAM243A(dist=43335),KCNE1(dist=2281) chr21 35816705 35816705 A C het . 2 +intergenic FAM243A(dist=44043),KCNE1(dist=1573) chr21 35817413 35817413 T - het . 4 +exonic KCNE1,KCNE1B chr21 35821821 35821821 T C het . 16 +intronic KCNE1,KCNE1B chr21 35822111 35822111 A G het . 7 +intronic KCNE1 chr21 35832335 35832335 G A het . 2 +intronic KCNE1 chr21 35838907 35838907 G T het . 2 +intronic KCNE1 chr21 35840246 35840246 - A het . 2 +intronic KCNE1 chr21 35845485 35845485 G C het . 2 +intronic KCNE1 chr21 35845771 35845771 G A het . 1 +intronic RCAN1 chr21 35896032 35896032 A G het . 11 +intronic RCAN1 chr21 35919466 35919466 T C het . 2 +intronic RCAN1 chr21 35919508 35919508 G A het . 2 +intronic RCAN1 chr21 35927081 35927081 T C het . 1 +intronic RCAN1 chr21 35961334 35961334 C T het . 4 +intronic RCAN1 chr21 35972810 35972810 G A het . 2 +exonic CLIC6 chr21 36042579 36042579 C G het . 3 +exonic CLIC6 chr21 36042584 36042584 G A het . 3 +intronic CLIC6 chr21 36079492 36079492 G A het . 8 +intronic CLIC6 chr21 36080204 36080204 A G het . 12 +exonic CLIC6 chr21 36080290 36080290 C T het . 28 +intronic CLIC6 chr21 36080908 36080908 G A het . 4 +ncRNA_intronic LINC01426 chr21 36126639 36126639 A G het . 3 +ncRNA_intronic LINC01426 chr21 36127514 36127514 G C het . 2 +ncRNA_intronic LINC01426 chr21 36127525 36127525 G A het . 3 +ncRNA_intronic LINC01426 chr21 36152545 36152545 T C het . 2 +UTR3 RUNX1(NM_001001890:c.*121G>C,NM_001754:c.*121G>C) chr21 36164311 36164311 C G het . 7 +UTR3 RUNX1(NM_001122607:c.*94A>G) chr21 36193871 36193871 T C het . 9 +intronic RUNX1 chr21 36237656 36237656 C T het . 2 +intronic RUNX1 chr21 36265324 36265324 T - het . 15 +intronic RUNX1 chr21 36336853 36336853 A T het . 2 +intronic RUNX1 chr21 36336874 36336874 C T het . 3 +intronic RUNX1 chr21 36338916 36338916 C G het . 1 +intronic RUNX1 chr21 36363842 36363844 GAT - het . 2 +intronic RUNX1 chr21 36374781 36374781 T G het . 2 +intronic RUNX1 chr21 36374969 36374969 T C het . 3 +ncRNA_exonic RUNX1-IT1 chr21 36411119 36411119 G T het . 4 +intergenic RUNX1(dist=36448),LOC100506403(dist=286762) chr21 36458043 36458043 A G het . 2 +intergenic RUNX1(dist=42587),LOC100506403(dist=280623) chr21 36464182 36464182 C T het . 2 +intergenic RUNX1(dist=42666),LOC100506403(dist=280544) chr21 36464261 36464261 A T het . 2 +intergenic RUNX1(dist=43708),LOC100506403(dist=279493) chr21 36465303 36465312 TCTCTCTCTC - het . 2 +intergenic RUNX1(dist=272195),LOC100506403(dist=51015) chr21 36693790 36693790 A G het . 2 +intergenic RUNX1(dist=283317),LOC100506403(dist=39893) chr21 36704912 36704912 A T het . 2 +ncRNA_intronic LOC100506403 chr21 36751786 36751786 C T het . 2 +ncRNA_intronic LOC100506403 chr21 36757131 36757131 G A het . 2 +ncRNA_intronic LOC100506403 chr21 36761788 36761788 C G het . 2 +ncRNA_intronic LOC100506403 chr21 36825913 36825913 T C het . 2 +ncRNA_intronic LOC100506403 chr21 36846610 36846610 C T het . 2 +ncRNA_intronic LOC100506403 chr21 36895519 36895519 G A het . 3 +ncRNA_intronic LOC100506403 chr21 36943066 36943066 A T het . 2 +ncRNA_intronic LOC100506403 chr21 36944945 36944945 T A het . 2 +intergenic LOC100506403(dist=14642),MIR802(dist=125309) chr21 36967704 36967704 C A het . 3 +intergenic LOC100506403(dist=18939),MIR802(dist=121012) chr21 36972001 36972001 - GAG het . 8 +intergenic LOC100506403(dist=19330),MIR802(dist=120621) chr21 36972392 36972392 A G het . 15 +intergenic LOC100506403(dist=32637),MIR802(dist=107314) chr21 36985699 36985699 - T het . 2 +intergenic LOC100506403(dist=51137),MIR802(dist=88814) chr21 37004199 37004199 T C het . 3 +intergenic LOC100506403(dist=57608),MIR802(dist=82343) chr21 37010670 37010670 C T het . 2 +intergenic LOC100506403(dist=60452),MIR802(dist=79499) chr21 37013514 37013514 T C het . 2 +intergenic LOC100506403(dist=99646),MIR802(dist=40305) chr21 37052708 37052708 A G het . 2 +intergenic LOC100506403(dist=99655),MIR802(dist=40296) chr21 37052717 37052717 T C het . 2 +intergenic LOC100506403(dist=106639),MIR802(dist=33312) chr21 37059701 37059701 T C het . 1 +upstream MIR802(dist=33) chr21 37092980 37092980 G A het . 19 +intergenic MIR802(dist=92696),PPP1R2P2(dist=72941) chr21 37185802 37185802 G C het . 2 +intergenic MIR802(dist=123058),PPP1R2P2(dist=42579) chr21 37216164 37216164 T C het . 2 +ncRNA_intronic LOC101928269 chr21 37327591 37327591 C A het . 2 +ncRNA_intronic LOC101928269 chr21 37340475 37340475 A T het . 2 +ncRNA_intronic LOC101928269 chr21 37348480 37348480 T C het . 2 +ncRNA_intronic LOC101928269 chr21 37352953 37352953 T C het . 2 +ncRNA_intronic LOC101928269 chr21 37356310 37356310 C T het . 3 +intronic SETD4 chr21 37408609 37408612 ACGT - het . 5 +exonic SETD4 chr21 37410477 37410477 T C het . 20 +intronic SETD4 chr21 37410633 37410633 T C het . 8 +intronic SETD4 chr21 37414194 37414194 - A het . 7 +intronic SETD4 chr21 37414256 37414256 T G het . 8 +intronic SETD4 chr21 37422889 37422889 T C het . 6 +intronic SETD4 chr21 37422966 37422966 C T het . 20 +intronic SETD4 chr21 37425955 37425955 C T het . 11 +intronic SETD4 chr21 37425971 37425971 C T het . 6 +intronic SETD4 chr21 37429679 37429679 G C het . 15 +UTR5 SETD4(NM_001286752:c.-1583C>A,NM_001007261:c.-1583C>A,NM_001007259:c.-79C>A) chr21 37431265 37431265 G T het . 8 +ncRNA_intronic LOC100133286 chr21 37443156 37443156 - G het . 3 +ncRNA_intronic LOC100133286 chr21 37443162 37443162 - G het . 2 +ncRNA_intronic LOC100133286 chr21 37443169 37443169 T G het . 2 +ncRNA_intronic LOC100133286 chr21 37443480 37443480 T G het . 23 +ncRNA_intronic LOC100133286 chr21 37443565 37443565 G C het . 9 +ncRNA_intronic LOC100133286 chr21 37444697 37444697 G A het . 21 +ncRNA_intronic LOC100133286 chr21 37452346 37452346 C T het . 2 +ncRNA_intronic LOC100133286 chr21 37453433 37453433 A - het . 4 +ncRNA_intronic LOC100133286 chr21 37455815 37455815 C T het . 2 +ncRNA_intronic LOC100133286 chr21 37491560 37491560 T G het . 4 +intergenic LOC100133286(dist=4012),CBR3-AS1(dist=1115) chr21 37502950 37502950 G T het . 29 +intergenic LOC100133286(dist=4084),CBR3-AS1(dist=1043) chr21 37503022 37503022 C T het . 22 +intergenic LOC100133286(dist=4108),CBR3-AS1(dist=1019) chr21 37503046 37503046 G C het . 8 +ncRNA_exonic CBR3-AS1 chr21 37504775 37504775 T C het . 6 +exonic CBR3 chr21 37507745 37507745 C T het . 8 +ncRNA_intronic CBR3-AS1 chr21 37509995 37509995 C T het . 15 +ncRNA_intronic CBR3-AS1 chr21 37518362 37518362 A G het . 7 +exonic CBR3 chr21 37518582 37518582 G A het . 21 +exonic CBR3 chr21 37518706 37518706 G A het . 6 +exonic DOP1B chr21 37537161 37537161 C A het . 13 +intronic DOP1B chr21 37541193 37541193 T - het . 10 +intronic DOP1B chr21 37541916 37541916 G A het . 6 +intronic DOP1B chr21 37541979 37541979 C G het . 20 +intronic DOP1B chr21 37542418 37542418 A G het . 3 +intronic DOP1B chr21 37564425 37564425 G A het . 3 +intronic DOP1B chr21 37572857 37572857 G A het . 3 +intronic DOP1B chr21 37583804 37583804 C T het . 10 +intronic DOP1B chr21 37586877 37586877 T C het . 14 +intronic DOP1B chr21 37588904 37588904 G A het . 3 +intronic DOP1B chr21 37596790 37596790 A - het . 3 +intronic DOP1B chr21 37596846 37596846 G - het . 3 +exonic DOP1B chr21 37609571 37609571 T C het . 14 +exonic DOP1B chr21 37617630 37617630 T G het . 16 +intronic DOP1B chr21 37619724 37619724 C T het . 10 +intronic DOP1B chr21 37619931 37619931 - T het . 12 +intronic DOP1B chr21 37623447 37623447 C T het . 7 +intronic DOP1B chr21 37635652 37635652 T C het . 2 +intronic DOP1B chr21 37635797 37635797 T C het . 8 +intronic DOP1B chr21 37648855 37648855 A T het . 1 +intronic DOP1B chr21 37649170 37649170 A T het . 2 +intronic DOP1B chr21 37649930 37649930 T - het . 2 +intronic DOP1B chr21 37650182 37650182 C T het . 5 +intronic DOP1B chr21 37650235 37650235 T C het . 11 +intronic DOP1B chr21 37653705 37653705 A G het . 3 +intronic DOP1B chr21 37658509 37658509 C T het . 2 +intronic DOP1B chr21 37661180 37661180 A G het . 10 +intronic DOP1B chr21 37664372 37664372 C T het . 6 +exonic DOP1B chr21 37664501 37664501 G A het . 15 +intronic DOP1B chr21 37664765 37664765 C T het . 1 +intronic DOP1B chr21 37665504 37665505 AA - het . 3 +intergenic DOP1B(dist=3819),MORC3(dist=22096) chr21 37670391 37670391 C G het . 3 +intergenic DOP1B(dist=6634),MORC3(dist=19281) chr21 37673206 37673206 C T het . 2 +intergenic DOP1B(dist=17614),MORC3(dist=8301) chr21 37684186 37684186 T C het . 3 +intergenic DOP1B(dist=17657),MORC3(dist=8258) chr21 37684229 37684229 A G het . 2 +intronic MORC3 chr21 37709946 37709946 A - het . 9 +intronic MORC3 chr21 37710946 37710946 - A het . 7 +intronic MORC3 chr21 37711064 37711064 T C het . 11 +intronic MORC3 chr21 37711225 37711225 C - het . 17 +intronic MORC3 chr21 37713563 37713563 A C het . 3 +intronic MORC3 chr21 37713932 37713932 A G het . 4 +intronic MORC3 chr21 37717907 37717907 G A het . 2 +intronic MORC3 chr21 37727040 37727040 T G het . 2 +intronic MORC3 chr21 37728869 37728869 - TTATC het . 12 +intronic MORC3 chr21 37728892 37728892 - TTGAA het . 10 +intronic MORC3 chr21 37729088 37729088 G C het . 10 +intronic MORC3 chr21 37732098 37732098 C T het . 5 +intronic MORC3 chr21 37732100 37732100 G A het . 5 +intronic MORC3 chr21 37732130 37732130 C T het . 4 +intronic MORC3 chr21 37734334 37734337 TAGA - het . 13 +intronic MORC3 chr21 37734424 37734424 T C het . 32 +intronic MORC3 chr21 37734466 37734466 A G het . 40 +intronic MORC3 chr21 37734541 37734543 TTT - het . 16 +exonic MORC3 chr21 37736438 37736438 C T het . 21 +intronic MORC3 chr21 37736622 37736622 G A het . 7 +intronic MORC3 chr21 37741268 37741268 G A het . 14 +exonic MORC3 chr21 37741929 37741929 T C het . 37 +UTR3 MORC3(NM_015358:c.*13G>A,NM_001320445:c.*13G>A,NM_001320446:c.*13G>A) chr21 37747607 37747607 G A het . 9 +intergenic MORC3(dist=2204),CHAF1B(dist=6541) chr21 37751148 37751148 T C het . 3 +intergenic MORC3(dist=3689),CHAF1B(dist=5056) chr21 37752633 37752633 - T het . 14 +intergenic MORC3(dist=6187),CHAF1B(dist=2558) chr21 37755131 37755131 A G het . 1 +intronic CHAF1B chr21 37760119 37760119 T - het . 4 +intronic CHAF1B chr21 37763757 37763757 G A het . 2 +intronic CHAF1B chr21 37769650 37769650 A G het . 6 +intronic CHAF1B chr21 37769700 37769700 - T het . 10 +intronic CHAF1B chr21 37769701 37769701 - G het . 11 +intronic CHAF1B chr21 37772004 37772004 A G het . 7 +intronic CHAF1B chr21 37782343 37782343 A C het . 2 +intergenic CHAF1B(dist=18193),CLDN14(dist=25602) chr21 37807318 37807318 A C het . 3 +intergenic CHAF1B(dist=33971),CLDN14(dist=9824) chr21 37823096 37823096 C T het . 1 +intergenic CHAF1B(dist=36181),CLDN14(dist=7614) chr21 37825306 37825306 T A het . 2 +UTR5 CLDN14(NM_144492:c.-17982G>C,NM_001146079:c.-17982G>C) chr21 37851975 37851975 C G het . 2 +UTR5 CLDN14(NM_144492:c.-18008A>G,NM_001146079:c.-18008A>G) chr21 37852001 37852001 T C het . 2 +intronic CLDN14 chr21 37858267 37858267 C G het . 4 +intronic CLDN14 chr21 37875771 37875771 C T het . 5 +intronic CLDN14 chr21 37909837 37909837 C T het . 3 +intronic CLDN14 chr21 37920769 37920769 G A het . 2 +intergenic CLDN14(dist=99780),SIM2(dist=22774) chr21 38048647 38048647 T - het . 2 +intergenic CLDN14(dist=102643),SIM2(dist=19911) chr21 38051510 38051510 T C het . 2 +intergenic CLDN14(dist=109947),SIM2(dist=12607) chr21 38058814 38058814 G C het . 2 +intergenic CLDN14(dist=110975),SIM2(dist=11579) chr21 38059842 38059842 C T het . 3 +UTR5 SIM2(NM_005069:c.-59A>G,NM_009586:c.-59A>G) chr21 38071988 38071988 A G het . 4 +exonic SIM2 chr21 38081480 38081480 C T het . 8 +intronic SIM2 chr21 38081562 38081562 T G het . 6 +intronic SIM2 chr21 38081577 38081577 C G het . 7 +intronic SIM2 chr21 38092039 38092039 A C het . 3 +intronic SIM2 chr21 38113998 38113998 C A het . 12 +intronic HLCS chr21 38129122 38129122 A C het . 5 +intronic HLCS chr21 38131869 38131869 G A het . 7 +intronic HLCS chr21 38136200 38136200 G C het . 2 +intronic HLCS chr21 38139632 38139632 C A het . 17 +intronic HLCS chr21 38148718 38148718 - T het . 2 +intronic HLCS chr21 38203392 38203392 C T het . 2 +intronic HLCS chr21 38238469 38238469 C - het . 1 +intronic HLCS chr21 38238478 38238478 - A het . 1 +intronic HLCS chr21 38238522 38238522 - G het . 2 +intronic HLCS chr21 38239157 38239157 T A het . 2 +intronic HLCS chr21 38280386 38280386 A - het . 2 +intronic HLCS chr21 38284443 38284443 A G het . 2 +intronic HLCS chr21 38288540 38288540 T C het . 2 +intronic HLCS chr21 38302769 38302769 C T het . 10 +intronic HLCS chr21 38302811 38302811 T - het . 9 +intronic HLCS chr21 38308552 38308552 C T het . 4 +intronic HLCS chr21 38318782 38318782 C T het . 2 +intronic HLCS chr21 38331068 38331068 A G het . 2 +intronic HLCS chr21 38331085 38331085 T A het . 2 +intronic HLCS chr21 38331090 38331090 A - het . 2 +intronic HLCS chr21 38336120 38336120 C T het . 2 +intronic HLCS chr21 38340348 38340348 T C het . 2 +intronic HLCS chr21 38340375 38340375 C A het . 2 +intronic HLCS chr21 38342808 38342808 C T het . 2 +intronic HLCS chr21 38348731 38348731 - AA het . 2 +intronic PIGP chr21 38439504 38439504 A G het . 4 +intronic PIGP chr21 38442136 38442136 T C het . 4 +exonic PIGP chr21 38444863 38444863 C T het . 20 +exonic PIGP chr21 38444881 38444881 G A het . 14 +UTR5 PIGP(NM_153681:c.-108T>C) chr21 38444995 38444995 A G het . 6 +intronic TTC3 chr21 38467556 38467556 G A het . 8 +intronic TTC3 chr21 38470120 38470120 G A het . 6 +intronic TTC3 chr21 38495213 38495213 - A het . 3 +intronic TTC3 chr21 38495270 38495270 - T het . 17 +intronic TTC3 chr21 38496883 38496883 A G het . 11 +intronic TTC3 chr21 38497303 38497303 G A het . 3 +intronic TTC3 chr21 38498341 38498341 - T het . 11 +intronic TTC3 chr21 38501279 38501279 G A het . 11 +intronic TTC3 chr21 38504928 38504928 A G het . 20 +intronic TTC3 chr21 38507572 38507572 T C het . 14 +intronic TTC3 chr21 38509466 38509467 CC TT het . 3 +exonic TTC3 chr21 38512956 38512956 A G het . 14 +intronic TTC3 chr21 38517021 38517021 G A het . 3 +intronic TTC3 chr21 38517058 38517058 C T het . 3 +intronic TTC3 chr21 38522354 38522354 T - het . 12 +intronic TTC3 chr21 38522618 38522618 G T het . 15 +intronic TTC3 chr21 38523266 38523266 C A het . 9 +intronic TTC3 chr21 38523409 38523409 G C het . 2 +exonic TTC3 chr21 38525356 38525356 T C het . 14 +intronic TTC3 chr21 38525652 38525652 T G het . 4 +intronic TTC3 chr21 38526942 38526942 A - het . 3 +intronic TTC3 chr21 38528866 38528866 A G het . 6 +intronic TTC3 chr21 38528873 38528873 G - het . 6 +exonic TTC3 chr21 38528987 38528987 G A het . 13 +intronic TTC3 chr21 38532059 38532059 G - het . 9 +intronic TTC3 chr21 38532068 38532068 - A het . 6 +intronic TTC3 chr21 38532087 38532087 G - het . 4 +intronic TTC3 chr21 38532192 38532192 - T het . 3 +intronic TTC3 chr21 38532790 38532791 TT AA het . 2 +intronic TTC3 chr21 38532901 38532901 - T het . 4 +intronic TTC3 chr21 38532904 38532904 - A het . 5 +intronic TTC3 chr21 38532910 38532910 - G het . 5 +intronic TTC3 chr21 38533341 38533341 A G het . 4 +intronic TTC3 chr21 38533467 38533467 A T het . 2 +intronic TTC3 chr21 38534228 38534228 - T het . 17 +intronic TTC3 chr21 38534234 38534234 C T het . 17 +intronic TTC3 chr21 38534533 38534533 T C het . 2 +intronic TTC3 chr21 38535122 38535122 C - het . 5 +intronic TTC3 chr21 38535192 38535192 T C het . 3 +intronic TTC3 chr21 38535256 38535256 A C het . 2 +intronic TTC3 chr21 38537743 38537743 A C het . 3 +intronic TTC3 chr21 38539658 38539658 G A het . 2 +intronic TTC3 chr21 38539673 38539673 C T het . 2 +intronic TTC3 chr21 38539677 38539677 A T het . 1 +intronic TTC3 chr21 38539681 38539681 G A het . 2 +intronic TTC3 chr21 38539718 38539718 G A het . 5 +intronic TTC3 chr21 38539745 38539745 - A het . 9 +intronic TTC3 chr21 38539836 38539836 - A het . 14 +intronic TTC3 chr21 38539844 38539844 G A het . 15 +intronic TTC3 chr21 38547215 38547215 G A het . 2 +intronic TTC3 chr21 38551219 38551219 T C het . 2 +intronic TTC3 chr21 38557782 38557782 C A het . 3 +intronic TTC3 chr21 38559323 38559323 - T het . 6 +ncRNA_intronic TTC3-AS1 chr21 38563487 38563487 A G het . 3 +exonic TTC3 chr21 38563725 38563725 G A het . 21 +ncRNA_intronic TTC3-AS1 chr21 38564531 38564531 T - het . 6 +intronic TTC3 chr21 38567902 38567902 C T het . 2 +intronic TTC3 chr21 38567911 38567911 T C het . 2 +exonic TTC3 chr21 38568009 38568009 G C het . 8 +exonic TTC3 chr21 38568308 38568308 C T het . 12 +intronic TTC3 chr21 38568475 38568475 A T het . 2 +intronic TTC3 chr21 38569688 38569688 - A het . 6 +intronic TTC3 chr21 38570053 38570053 G T het . 14 +intronic TTC3 chr21 38570055 38570055 - AA het . 14 +ncRNA_intronic DSCR9 chr21 38581114 38581114 T C het . 2 +ncRNA_intronic DSCR9 chr21 38581125 38581125 T G het . 2 +ncRNA_intronic DSCR9 chr21 38582815 38582815 G A het . 2 +ncRNA_intronic DSCR9 chr21 38585212 38585212 - A het . 5 +ncRNA_intronic DSCR9 chr21 38585213 38585213 - AAA het . 5 +intronic VPS26C chr21 38600226 38600226 T C het . 2 +intronic VPS26C chr21 38622788 38622788 G A het . 3 +intronic VPS26C chr21 38625906 38625906 A G het . 2 +UTR5 VPS26C(NM_001331021:c.-169_-168insG,NM_001331018:c.-169_-168insG,NM_001331022:c.-169_-168insG,NM_006052:c.-169_-168insG) chr21 38639763 38639763 - C het . 3 +intergenic VPS26C(dist=29811),DYRK1A(dist=67655) chr21 38670220 38670220 G A het . 2 +intergenic VPS26C(dist=55371),DYRK1A(dist=42095) chr21 38695780 38695780 A G het . 2 +intergenic VPS26C(dist=60242),DYRK1A(dist=37224) chr21 38700651 38700651 G A het . 2 +intergenic VPS26C(dist=69118),DYRK1A(dist=28348) chr21 38709527 38709527 - T het . 3 +intergenic VPS26C(dist=70222),DYRK1A(dist=27244) chr21 38710631 38710631 T A het . 2 +intronic DYRK1A chr21 38814518 38814518 T G het . 3 +intronic DYRK1A chr21 38814612 38814612 C T het . 1 +intronic DYRK1A chr21 38824655 38824655 A G het . 2 +intronic DYRK1A chr21 38840660 38840660 T C het . 2 +intronic DYRK1A chr21 38850640 38850640 G A het . 11 +intronic DYRK1A chr21 38851917 38851921 TTTTG - het . 1 +intronic DYRK1A chr21 38859427 38859427 T C het . 2 +intronic DYRK1A chr21 38862373 38862373 T A het . 4 +intronic DYRK1A chr21 38862376 38862376 G A het . 4 +intergenic DYRK1A(dist=77577),KCNJ6(dist=31269) chr21 38965256 38965256 C G het . 2 +exonic KCNJ6 chr21 38997701 38997701 G A het . 8 +intronic KCNJ6 chr21 39003525 39003525 T G het . 3 +intronic KCNJ6 chr21 39025049 39025049 A C het . 2 +intronic KCNJ6 chr21 39039665 39039665 C A het . 1 +intronic KCNJ6 chr21 39042181 39042181 T C het . 2 +intronic KCNJ6 chr21 39051859 39051859 A G het . 2 +intronic KCNJ6 chr21 39055588 39055588 G A het . 2 +intronic KCNJ6 chr21 39059113 39059113 T C het . 2 +intronic KCNJ6 chr21 39073445 39073445 - C het . 2 +intronic KCNJ6 chr21 39076914 39076914 C T het . 4 +intronic KCNJ6 chr21 39080874 39080874 C - het . 2 +exonic KCNJ6 chr21 39086965 39086965 T C het . 14 +intronic KCNJ6 chr21 39091124 39091124 A T het . 2 +intronic KCNJ6 chr21 39096903 39096903 T C het . 2 +intronic KCNJ6 chr21 39109831 39109831 C T het . 2 +intronic KCNJ6 chr21 39144965 39144965 C A het . 3 +intronic KCNJ6 chr21 39195222 39195222 A G het . 2 +intronic KCNJ6 chr21 39213020 39213020 G A het . 15 +intronic KCNJ6 chr21 39217372 39217372 G A het . 1 +intronic KCNJ6 chr21 39230420 39230420 A G het . 2 +intronic KCNJ6 chr21 39235347 39235347 G A het . 2 +intronic KCNJ6 chr21 39235370 39235370 G A het . 2 +intronic KCNJ6 chr21 39250250 39250250 G A het . 2 +intergenic KCNJ6(dist=36493),DSCR4(dist=101079) chr21 39325234 39325234 C T het . 10 +intergenic KCNJ6(dist=42903),DSCR4(dist=94669) chr21 39331644 39331644 G A het . 2 +intergenic KCNJ6(dist=102264),DSCR4(dist=35308) chr21 39391005 39391005 G A het . 3 +ncRNA_intronic DSCR4 chr21 39455061 39455061 T C het . 2 +ncRNA_intronic DSCR8 chr21 39526409 39526409 G A het . 13 +intronic KCNJ15 chr21 39627712 39627712 A G het . 2 +intronic KCNJ15 chr21 39657252 39657252 C T het . 2 +intronic KCNJ15 chr21 39659873 39659873 A G het . 4 +intronic KCNJ15 chr21 39660847 39660847 C T het . 2 +intronic KCNJ15 chr21 39662554 39662554 T C het . 2 +intronic KCNJ15 chr21 39670392 39670392 C T het . 2 +exonic KCNJ15 chr21 39671476 39671476 G A het . 12 +intergenic KCNJ15(dist=2282),LINC01423(dist=22253) chr21 39676028 39676028 T G het . 3 +intergenic KCNJ15(dist=4870),LINC01423(dist=19665) chr21 39678616 39678616 C T het . 2 +intergenic KCNJ15(dist=7290),LINC01423(dist=17245) chr21 39681036 39681036 C T het . 2 +intronic ERG chr21 39739665 39739665 T A het . 6 +intronic ERG chr21 39764211 39764211 T A het . 12 +intronic ERG chr21 39764784 39764784 T C het . 4 +intronic ERG chr21 39775373 39775373 A G het . 5 +intronic ERG chr21 39800096 39800096 G C het . 3 +intronic ERG chr21 39816771 39816771 G A het . 2 +intronic ERG chr21 39822650 39822650 G T het . 6 +intronic ERG chr21 39822906 39822906 G C het . 4 +intronic ERG chr21 39841973 39841973 G C het . 2 +intronic ERG chr21 39848905 39848905 G T het . 2 +intronic ERG chr21 39903923 39903923 T C het . 2 +intronic ERG chr21 39955537 39955537 C T het . 2 +intronic ERG chr21 40016259 40016259 - T het . 2 +intronic ERG chr21 40016285 40016285 T G het . 2 +intergenic ERG(dist=31818),LINC00114(dist=45421) chr21 40065522 40065524 ACC - het . 4 +intronic ETS2 chr21 40184534 40184534 G A het . 2 +exonic ETS2 chr21 40191431 40191431 T G het . 10 +exonic ETS2 chr21 40191638 40191638 A G het . 22 +intergenic LOC101928398(dist=8851),LOC400867(dist=9578) chr21 40239637 40239637 G A het . 2 +intergenic LOC101928398(dist=11860),LOC400867(dist=6569) chr21 40242646 40242646 T A het . 3 +intergenic LOC101928398(dist=13881),LOC400867(dist=4548) chr21 40244667 40244667 C T het . 2 +ncRNA_exonic LOC400867 chr21 40250763 40250763 A - het . 25 +ncRNA_intronic LOC400867 chr21 40283195 40283198 TGTC - het . 3 +ncRNA_intronic LOC400867 chr21 40289167 40289167 T G het . 2 +ncRNA_intronic LOC400867 chr21 40290959 40290959 C T het . 2 +ncRNA_intronic LOC400867 chr21 40292286 40292286 T C het . 1 +ncRNA_intronic LOC400867 chr21 40292289 40292289 T C het . 1 +ncRNA_intronic LOC400867 chr21 40292297 40292297 G T het . 1 +ncRNA_intronic LOC400867 chr21 40292460 40292460 G A het . 2 +ncRNA_intronic LOC400867 chr21 40302416 40302416 T C het . 2 +ncRNA_intronic LOC400867 chr21 40303428 40303428 G T het . 3 +intergenic LOC400867(dist=11950),LINC01700(dist=24052) chr21 40322303 40322303 G A het . 2 +intergenic LOC400867(dist=15229),LINC01700(dist=20773) chr21 40325582 40325582 A - het . 2 +intergenic LOC400867(dist=31529),LINC01700(dist=4473) chr21 40341882 40341882 T C het . 2 +upstream LINC01700(dist=882) chr21 40350582 40350582 A G het . 3 +intergenic LINC01700(dist=32069),PSMG1(dist=165603) chr21 40381769 40381769 C G het . 2 +intergenic LINC01700(dist=67772),PSMG1(dist=129900) chr21 40417472 40417472 A G het . 2 +intergenic LINC01700(dist=115224),PSMG1(dist=82448) chr21 40464924 40464924 G C het . 3 +intergenic LINC01700(dist=149798),PSMG1(dist=47874) chr21 40499498 40499498 A G het . 6 +intergenic LINC01700(dist=149841),PSMG1(dist=47831) chr21 40499541 40499541 A G het . 11 +intergenic LINC01700(dist=149856),PSMG1(dist=47816) chr21 40499556 40499556 G C het . 14 +intergenic LINC01700(dist=149935),PSMG1(dist=47737) chr21 40499635 40499635 G A het . 20 +intergenic LINC01700(dist=150035),PSMG1(dist=47637) chr21 40499735 40499735 G T het . 15 +intergenic LINC01700(dist=150050),PSMG1(dist=47622) chr21 40499750 40499750 G A het . 14 +intergenic LINC01700(dist=150074),PSMG1(dist=47598) chr21 40499774 40499774 T C het . 21 +intergenic LINC01700(dist=150180),PSMG1(dist=47492) chr21 40499880 40499880 T C het . 13 +intergenic LINC01700(dist=150215),PSMG1(dist=47457) chr21 40499915 40499915 G A het . 6 +intergenic LINC01700(dist=154606),PSMG1(dist=43066) chr21 40504306 40504306 C G het . 2 +intergenic LINC01700(dist=178304),PSMG1(dist=19368) chr21 40528004 40528004 G C het . 2 +intergenic LINC01700(dist=190090),PSMG1(dist=7582) chr21 40539790 40539790 C A het . 2 +exonic PSMG1 chr21 40552307 40552307 A G het . 10 +intronic PSMG1 chr21 40553491 40553491 A G het . 2 +intronic PSMG1 chr21 40553845 40553845 T C het . 13 +exonic BRWD1 chr21 40558972 40558972 A G het . 13 +exonic BRWD1 chr21 40571246 40571246 A G het . 23 +exonic BRWD1 chr21 40574305 40574305 A G het . 20 +intronic BRWD1 chr21 40574552 40574552 G T het . 6 +intronic BRWD1 chr21 40584412 40584412 A T het . 4 +exonic BRWD1 chr21 40584598 40584598 C T het . 19 +intronic BRWD1 chr21 40585331 40585352 AAGCCAACATTTTCTTCACTTT - het . 22 +intronic BRWD1 chr21 40587003 40587003 - C het . 6 +intronic BRWD1 chr21 40587049 40587049 A G het . 9 +intronic BRWD1 chr21 40588696 40588696 T C het . 7 +intronic BRWD1 chr21 40589283 40589283 A - het . 5 +intronic BRWD1 chr21 40597215 40597215 - AAG het . 3 +intronic BRWD1 chr21 40597236 40597236 A T het . 4 +intronic BRWD1 chr21 40600313 40600313 T C het . 5 +intronic BRWD1 chr21 40603930 40603930 C T het . 4 +intronic BRWD1 chr21 40610274 40610274 G T het . 7 +intronic BRWD1 chr21 40623018 40623018 G C het . 3 +intronic BRWD1 chr21 40627020 40627020 A C het . 2 +intronic BRWD1 chr21 40635009 40635009 G C het . 2 +intronic BRWD1 chr21 40636248 40636248 A G het . 6 +intronic BRWD1 chr21 40636351 40636351 C T het . 7 +intronic BRWD1 chr21 40636355 40636356 AA - het . 3 +exonic BRWD1 chr21 40641858 40641858 T G het . 14 +intronic BRWD1 chr21 40642189 40642189 C T het . 4 +intronic BRWD1 chr21 40646224 40646225 AG - het . 4 +intronic BRWD1 chr21 40648265 40648265 G A het . 9 +intronic BRWD1 chr21 40649089 40649089 A - het . 3 +intronic BRWD1 chr21 40650567 40650567 G C het . 11 +intronic BRWD1 chr21 40650621 40650621 G A het . 12 +intronic BRWD1 chr21 40652040 40652040 A C het . 8 +intronic BRWD1 chr21 40652382 40652382 G A het . 2 +exonic BRWD1 chr21 40670460 40670460 G C het . 10 +intronic BRWD1 chr21 40683259 40683259 A G het . 2 +intronic BRWD1 chr21 40684389 40684389 C G het . 2 +intronic BRWD1 chr21 40684427 40684427 C T het . 2 +intronic BRWD1 chr21 40684861 40684861 C G het . 3 +intronic BRWD1 chr21 40685239 40685239 A G het . 9 +intronic BRWD1 chr21 40685246 40685246 A G het . 8 +ncRNA_exonic BRWD1-AS2 chr21 40686020 40686020 C T het . 17 +ncRNA_exonic BRWD1-AS2 chr21 40686078 40686078 G C het . 21 +ncRNA_exonic BRWD1-AS2 chr21 40686327 40686327 T C het . 10 +intergenic BRWD1-AS1(dist=7727),HMGN1(dist=11370) chr21 40702871 40702871 - AATA het . 2 +intergenic BRWD1-AS1(dist=7730),HMGN1(dist=11367) chr21 40702874 40702874 G A het . 2 +intronic HMGN1 chr21 40715132 40715132 G A het . 7 +intronic HMGN1 chr21 40717036 40717039 CACA - het . 2 +intronic HMGN1 chr21 40719477 40719477 - A het . 17 +intergenic HMGN1(dist=19859),WRB-SH3BGR(dist=11264) chr21 40740906 40740906 A G het . 2 +intronic WRB,WRB-SH3BGR chr21 40759882 40759882 T C het . 2 +UTR3 WRB(NM_004627:c.*152G>T,NM_001350296:c.*152G>T,NM_001350294:c.*152G>T,NM_001350295:c.*152G>T,NM_001350293:c.*152G>T,NM_001146218:c.*152G>T) chr21 40769017 40769017 G T het . 9 +intronic WRB-SH3BGR chr21 40776919 40776919 A G het . 2 +intronic LCA5L,WRB-SH3BGR chr21 40793212 40793212 A G het . 2 +exonic SH3BGR chr21 40823981 40823981 G A het . 9 +intronic SH3BGR,WRB-SH3BGR chr21 40844300 40844300 T C het . 2 +intronic SH3BGR,WRB-SH3BGR chr21 40847249 40847249 T G het . 9 +intronic SH3BGR,WRB-SH3BGR chr21 40850424 40850424 G C het . 2 +intronic SH3BGR,WRB-SH3BGR chr21 40867633 40867633 C T het . 2 +exonic SH3BGR,WRB-SH3BGR chr21 40871810 40871810 T C het . 20 +intronic SH3BGR,WRB-SH3BGR chr21 40880882 40880886 TTGAA - het . 12 +exonic SH3BGR,WRB-SH3BGR chr21 40883671 40883671 - AGA het . 8 +intronic SH3BGR,WRB-SH3BGR chr21 40886816 40886816 T C het . 4 +intergenic WRB-SH3BGR(dist=26049),B3GALT5-AS1(dist=55593) chr21 40913482 40913482 C T het . 2 +intergenic WRB-SH3BGR(dist=28525),B3GALT5-AS1(dist=53117) chr21 40915958 40915958 G C het . 2 +intergenic WRB-SH3BGR(dist=31711),B3GALT5-AS1(dist=49931) chr21 40919144 40919144 T C het . 2 +intergenic WRB-SH3BGR(dist=32231),B3GALT5-AS1(dist=49411) chr21 40919664 40919664 T C het . 2 +intergenic WRB-SH3BGR(dist=33894),B3GALT5-AS1(dist=47748) chr21 40921327 40921327 A G het . 2 +intergenic WRB-SH3BGR(dist=33897),B3GALT5-AS1(dist=47745) chr21 40921330 40921330 A T het . 2 +intergenic WRB-SH3BGR(dist=37172),B3GALT5-AS1(dist=44470) chr21 40924605 40924605 C T het . 3 +intergenic WRB-SH3BGR(dist=50075),B3GALT5-AS1(dist=31567) chr21 40937508 40937508 G A het . 4 +intergenic WRB-SH3BGR(dist=52790),B3GALT5-AS1(dist=28852) chr21 40940223 40940223 G A het . 2 +intergenic WRB-SH3BGR(dist=54942),B3GALT5-AS1(dist=26700) chr21 40942375 40942375 C T het . 2 +intergenic WRB-SH3BGR(dist=55817),B3GALT5-AS1(dist=25825) chr21 40943250 40943250 A G het . 2 +intergenic WRB-SH3BGR(dist=69701),B3GALT5-AS1(dist=11941) chr21 40957134 40957134 C A het . 2 +ncRNA_exonic B3GALT5-AS1 chr21 40969620 40969620 G A het . 6 +ncRNA_exonic B3GALT5-AS1 chr21 40969621 40969621 C T het . 6 +ncRNA_exonic B3GALT5-AS1 chr21 40969826 40969826 G C het . 16 +ncRNA_intronic B3GALT5-AS1 chr21 40972798 40972798 C A het . 2 +ncRNA_exonic B3GALT5-AS1 chr21 40977826 40977826 A G het . 9 +ncRNA_exonic B3GALT5-AS1 chr21 40978013 40978013 G A het . 13 +ncRNA_exonic B3GALT5-AS1 chr21 40978115 40978115 C T het . 11 +ncRNA_intronic B3GALT5-AS1 chr21 40981430 40981430 - A het . 6 +ncRNA_intronic B3GALT5-AS1 chr21 40981444 40981444 A C het . 6 +ncRNA_intronic B3GALT5-AS1 chr21 40981609 40981609 A G het . 10 +intronic B3GALT5 chr21 41030757 41030757 C T het . 2 +intronic B3GALT5 chr21 41030796 41030796 A - het . 3 +intronic B3GALT5 chr21 41030800 41030800 C A het . 3 +intronic B3GALT5 chr21 41030802 41030802 A G het . 3 +exonic B3GALT5 chr21 41032740 41032740 T C het . 9 +exonic B3GALT5 chr21 41032804 41032804 G A het . 13 +intergenic B3GALT5(dist=1810),IGSF5(dist=80708) chr21 41036626 41036626 A G het . 3 +upstream IGSF5(dist=54) chr21 41117280 41117280 G A het . 4 +UTR5 IGSF5(NM_001080444:c.-69G>A) chr21 41117368 41117368 G A het . 4 +intronic IGSF5 chr21 41117533 41117533 T C het . 7 +intronic IGSF5 chr21 41117583 41117583 T C het . 7 +intronic IGSF5 chr21 41118024 41118024 A G het . 6 +intronic IGSF5 chr21 41120223 41120223 A - het . 1 +intronic IGSF5 chr21 41128017 41128020 CAAA - het . 4 +intronic IGSF5 chr21 41137362 41137362 A C het . 2 +exonic IGSF5 chr21 41137499 41137499 A G het . 3 +exonic IGSF5 chr21 41137507 41137507 G C het . 4 +intronic IGSF5 chr21 41142640 41142640 T C het . 2 +intronic IGSF5 chr21 41159880 41159880 A G het . 6 +intronic IGSF5 chr21 41159977 41159977 G C het . 13 +intronic IGSF5 chr21 41160242 41160242 A G het . 9 +intronic IGSF5 chr21 41165301 41165301 A G het . 2 +intronic IGSF5 chr21 41165418 41165418 G A het . 12 +exonic IGSF5 chr21 41165462 41165462 C A het . 13 +intronic IGSF5 chr21 41165566 41165566 T C het . 14 +intronic IGSF5 chr21 41172516 41172516 G A het . 1 +intronic IGSF5 chr21 41172540 41172540 T A het . 1 +intergenic IGSF5(dist=15416),PCP4(dist=49908) chr21 41189439 41189439 - AATC het . 2 +intronic PCP4 chr21 41279609 41279609 T C het . 3 +intergenic PCP4(dist=21625),DSCAM(dist=59979) chr21 41322947 41322947 T C het . 2 +intergenic PCP4(dist=43243),DSCAM(dist=38361) chr21 41344565 41344565 T C het . 1 +intergenic PCP4(dist=59116),DSCAM(dist=22488) chr21 41360438 41360438 C T het . 2 +intergenic PCP4(dist=59490),DSCAM(dist=22114) chr21 41360812 41360812 C T het . 2 +intergenic PCP4(dist=60288),DSCAM(dist=21316) chr21 41361610 41361610 G C het . 2 +intergenic PCP4(dist=60330),DSCAM(dist=21274) chr21 41361652 41361652 G A het . 2 +intergenic PCP4(dist=63410),DSCAM(dist=18194) chr21 41364732 41364732 A G het . 2 +intergenic PCP4(dist=65897),DSCAM(dist=15707) chr21 41367219 41367219 G C het . 2 +intronic DSCAM chr21 41386919 41386919 T C het . 3 +intronic DSCAM chr21 41386931 41386931 T C het . 2 +intronic DSCAM chr21 41387324 41387324 C T het . 1 +intronic DSCAM chr21 41392131 41392131 A C het . 3 +intronic DSCAM chr21 41392257 41392257 C T het . 2 +intronic DSCAM chr21 41420919 41420919 C A het . 2 +intronic DSCAM chr21 41420929 41420929 T A het . 2 +intronic DSCAM chr21 41422372 41422372 - G het . 2 +intronic DSCAM chr21 41427880 41427880 A G het . 2 +intronic DSCAM chr21 41427897 41427897 C A het . 2 +intronic DSCAM chr21 41428370 41428370 T C het . 2 +intronic DSCAM chr21 41428374 41428374 T C het . 2 +intronic DSCAM chr21 41428380 41428380 G A het . 2 +intronic DSCAM chr21 41434643 41434643 T C het . 8 +intronic DSCAM chr21 41434671 41434671 T C het . 6 +intronic DSCAM chr21 41434841 41434841 T C het . 10 +intronic DSCAM chr21 41461480 41461480 T C het . 2 +intronic DSCAM chr21 41493833 41493833 G T het . 2 +intronic DSCAM chr21 41496306 41496306 C T het . 10 +intronic DSCAM chr21 41508583 41508583 G C het . 2 +intronic DSCAM chr21 41514689 41514689 A - het . 7 +intronic DSCAM chr21 41516366 41516366 G A het . 5 +intronic DSCAM chr21 41551175 41551175 G C het . 6 +intronic DSCAM chr21 41589096 41589096 T C het . 2 +intronic DSCAM chr21 41603958 41603958 T G het . 2 +exonic DSCAM chr21 41684090 41684090 C T het . 29 +intronic DSCAM chr21 41721717 41721718 AG GA het . 2 +intronic DSCAM chr21 41721782 41721782 A G het . 2 +intronic DSCAM chr21 41733450 41733450 G T het . 2 +intronic DSCAM chr21 41790714 41790714 T A het . 2 +intronic DSCAM chr21 41851062 41851062 G C het . 2 +intronic DSCAM chr21 41923426 41923426 A C het . 2 +intronic DSCAM chr21 41941665 41941665 G C het . 3 +intronic DSCAM chr21 41952437 41952437 G A het . 4 +intronic DSCAM chr21 41963029 41963029 C G het . 2 +intronic DSCAM chr21 41963036 41963036 T G het . 2 +intronic DSCAM chr21 41964695 41964695 C T het . 1 +intronic DSCAM chr21 41965826 41965826 G A het . 2 +intronic DSCAM chr21 41967133 41967133 C T het . 3 +intronic DSCAM chr21 42024274 42024278 AAAAA - het . 2 +intronic DSCAM chr21 42035753 42035753 G A het . 2 +intronic DSCAM chr21 42036220 42036220 T C het . 2 +intronic DSCAM chr21 42045011 42045011 T A het . 2 +intronic DSCAM chr21 42055159 42055159 T A het . 2 +intronic DSCAM chr21 42154430 42154430 G A het . 2 +intronic DSCAM chr21 42204759 42204759 C A het . 2 +intronic DSCAM chr21 42210901 42210901 G C het . 2 +intergenic DSCAM(dist=14777),LINC00323(dist=279585) chr21 42233842 42233842 T A het . 1 +intergenic DSCAM(dist=26502),LINC00323(dist=267860) chr21 42245567 42245567 G A het . 2 +intergenic DSCAM(dist=36594),LINC00323(dist=257768) chr21 42255659 42255659 A - het . 4 +intergenic DSCAM(dist=60143),LINC00323(dist=234219) chr21 42279208 42279208 G A het . 2 +intergenic DSCAM(dist=65960),LINC00323(dist=228402) chr21 42285025 42285025 A G het . 2 +intergenic DSCAM(dist=80302),LINC00323(dist=214060) chr21 42299367 42299367 - T het . 2 +intergenic DSCAM(dist=122601),LINC00323(dist=171758) chr21 42341666 42341669 AGGA - het . 1 +intergenic DSCAM(dist=122606),LINC00323(dist=171756) chr21 42341671 42341671 G T het . 2 +intergenic DSCAM(dist=122626),LINC00323(dist=171736) chr21 42341691 42341691 G A het . 2 +intergenic DSCAM(dist=131862),LINC00323(dist=162500) chr21 42350927 42350927 T - het . 3 +intergenic DSCAM(dist=142634),LINC00323(dist=151728) chr21 42361699 42361699 G C het . 2 +intergenic DSCAM(dist=162348),LINC00323(dist=132014) chr21 42381413 42381413 A G het . 2 +intergenic DSCAM(dist=171897),LINC00323(dist=122465) chr21 42390962 42390962 C T het . 2 +intergenic DSCAM(dist=191679),LINC00323(dist=102683) chr21 42410744 42410744 G C het . 2 +intergenic DSCAM(dist=194822),LINC00323(dist=99540) chr21 42413887 42413887 C T het . 4 +intergenic DSCAM(dist=196351),LINC00323(dist=98011) chr21 42415416 42415416 A G het . 2 +intergenic DSCAM(dist=234663),LINC00323(dist=59699) chr21 42453728 42453728 A G het . 2 +intergenic DSCAM(dist=249351),LINC00323(dist=45011) chr21 42468416 42468416 G A het . 2 +intergenic DSCAM(dist=250273),LINC00323(dist=44089) chr21 42469338 42469338 A G het . 3 +intergenic DSCAM(dist=252312),LINC00323(dist=42050) chr21 42471377 42471377 C T het . 3 +intergenic DSCAM(dist=255489),LINC00323(dist=38873) chr21 42474554 42474554 G A het . 2 +intergenic DSCAM(dist=272553),LINC00323(dist=21809) chr21 42491618 42491618 G A het . 3 +intergenic DSCAM(dist=287166),LINC00323(dist=7196) chr21 42506231 42506231 - T het . 2 +upstream LINC00323(dist=655) chr21 42520646 42520646 A C het . 2 +intergenic LINC00323(dist=5672),MIR3197(dist=13821) chr21 42525663 42525663 G A het . 2 +ncRNA_exonic PLAC4 chr21 42550402 42550402 C G het . 2 +ncRNA_exonic PLAC4 chr21 42550407 42550407 T A het . 2 +intronic BACE2 chr21 42605846 42605846 G C het . 2 +intronic BACE2 chr21 42606150 42606150 T A het . 3 +intronic BACE2 chr21 42613926 42613926 T - het . 3 +intronic BACE2 chr21 42615293 42615293 C T het . 8 +intergenic BACE2(dist=9905),FAM3B(dist=24295) chr21 42664366 42664366 T G het . 2 +intergenic BACE2(dist=32883),FAM3B(dist=1317) chr21 42687344 42687344 G T het . 2 +intronic FAM3B chr21 42711936 42711936 T C het . 2 +exonic FAM3B chr21 42717662 42717662 T C het . 17 +intronic MX2 chr21 42767733 42767733 T C het . 12 +intronic MX2 chr21 42767894 42767894 C T het . 2 +intronic MX2 chr21 42775179 42775179 - T het . 18 +intronic MX2 chr21 42775180 42775180 C T het . 18 +intronic MX2 chr21 42775555 42775555 A G het . 15 +intronic MX1 chr21 42817354 42817354 T C het . 15 +intronic MX1 chr21 42821265 42821265 A G het . 3 +intronic MX1 chr21 42822983 42822983 G A het . 8 +intronic MX1 chr21 42823372 42823372 C T het . 6 +intronic MX1 chr21 42823389 42823389 A G het . 3 +intronic MX1 chr21 42823395 42823395 C T het . 3 +intronic MX1 chr21 42823911 42823911 C T het . 2 +intronic MX1 chr21 42824449 42824449 C T het . 5 +exonic MX1 chr21 42824661 42824661 A G het . 17 +intronic MX1 chr21 42828354 42828354 G A het . 2 +intronic MX1 chr21 42829526 42829526 G A het . 2 +exonic MX1 chr21 42830690 42830690 A G het . 5 +intergenic MX1(dist=3458),TMPRSS2(dist=1879) chr21 42834599 42834599 G A het . 4 +intronic TMPRSS2 chr21 42838123 42838123 C A het . 24 +intronic TMPRSS2 chr21 42838138 42838138 A T het . 19 +intronic TMPRSS2 chr21 42838198 42838198 G A het . 17 +intronic TMPRSS2 chr21 42842713 42842713 - CTAAGGCCTCGGG het . 7 +intronic TMPRSS2 chr21 42843960 42843960 A G het . 4 +exonic TMPRSS2 chr21 42845374 42845374 G A het . 11 +exonic TMPRSS2 chr21 42845383 42845383 A G het . 9 +intronic TMPRSS2 chr21 42848561 42848562 AG - het . 18 +intronic TMPRSS2 chr21 42848684 42848684 C T het . 6 +exonic TMPRSS2 chr21 42852497 42852497 C T het . 21 +intronic TMPRSS2 chr21 42860494 42860494 C G het . 2 +intronic TMPRSS2 chr21 42861181 42861181 G C het . 2 +intronic TMPRSS2 chr21 42873605 42873605 G A het . 2 +exonic TMPRSS2 chr21 42879909 42879909 C A het . 4 +intergenic TMPRSS2(dist=8707),LINC00111(dist=210670) chr21 42888792 42888792 T C het . 2 +intergenic TMPRSS2(dist=34187),LINC00111(dist=185190) chr21 42914272 42914272 T C het . 2 +intergenic TMPRSS2(dist=37467),LINC00111(dist=181910) chr21 42917552 42917552 - G het . 3 +intergenic TMPRSS2(dist=37500),LINC00111(dist=181874) chr21 42917585 42917588 AAAG - het . 2 +intergenic TMPRSS2(dist=56611),LINC00111(dist=162766) chr21 42936696 42936696 A T het . 2 +intergenic TMPRSS2(dist=61381),LINC00111(dist=157996) chr21 42941466 42941466 T C het . 3 +intergenic TMPRSS2(dist=63844),LINC00111(dist=155533) chr21 42943929 42943929 G A het . 2 +intergenic TMPRSS2(dist=143429),LINC00111(dist=75948) chr21 43023514 43023514 A G het . 2 +intergenic TMPRSS2(dist=165313),LINC00111(dist=54064) chr21 43045398 43045398 C G het . 1 +intergenic TMPRSS2(dist=169763),LINC00111(dist=49614) chr21 43049848 43049848 C T het . 2 +intergenic TMPRSS2(dist=182959),LINC00111(dist=36418) chr21 43063044 43063044 A G het . 2 +intergenic TMPRSS2(dist=215955),LINC00111(dist=3421) chr21 43096040 43096041 AT - het . 1 +intergenic LINC00111(dist=3196),LINC00479(dist=10988) chr21 43120692 43120692 C T het . 4 +intergenic LINC00111(dist=12534),LINC00479(dist=1650) chr21 43130030 43130030 A G het . 2 +intergenic LINC00111(dist=12539),LINC00479(dist=1645) chr21 43130035 43130035 A G het . 2 +ncRNA_exonic LINC00479 chr21 43132878 43132878 T A het . 2 +ncRNA_exonic LINC00479 chr21 43133145 43133145 A G het . 14 +ncRNA_intronic LINC00479 chr21 43133244 43133245 TT - het . 6 +ncRNA_exonic LINC00479 chr21 43133829 43133829 A G het . 6 +exonic RIPK4 chr21 43187043 43187043 C T het . 12 +exonic RIPK4 chr21 43187167 43187167 G C het . 13 +intergenic RIPK4(dist=7456),PRDM15(dist=23680) chr21 43194705 43194705 C A het . 2 +exonic PRDM15 chr21 43221483 43221483 A G het . 2 +exonic PRDM15 chr21 43221826 43221826 T C het . 3 +intronic PRDM15 chr21 43223126 43223126 C T het . 22 +intronic PRDM15 chr21 43224683 43224683 A G het . 6 +intronic PRDM15 chr21 43231296 43231296 A T het . 4 +exonic PRDM15 chr21 43239972 43239972 A G het . 11 +intronic PRDM15 chr21 43240356 43240356 G A het . 2 +intronic PRDM15 chr21 43242207 43242207 G A het . 6 +intronic PRDM15 chr21 43242860 43242860 T C het . 2 +intronic PRDM15 chr21 43242911 43242911 A T het . 2 +intronic PRDM15 chr21 43243585 43243585 A G het . 4 +intronic PRDM15 chr21 43243852 43243852 G A het . 10 +intronic PRDM15 chr21 43243902 43243902 G A het . 5 +intronic PRDM15 chr21 43246223 43246223 C T het . 2 +intronic PRDM15 chr21 43248418 43248418 A G het . 2 +exonic PRDM15 chr21 43254623 43254623 C G het . 17 +intronic PRDM15 chr21 43255509 43255509 C T het . 4 +exonic PRDM15 chr21 43256252 43256252 C T het . 11 +intronic PRDM15 chr21 43258000 43258000 T C het . 8 +intronic PRDM15 chr21 43258481 43258481 A G het . 2 +exonic PRDM15 chr21 43267260 43267260 C T het . 7 +intronic PRDM15 chr21 43271324 43271324 G A het . 2 +intronic PRDM15 chr21 43274653 43274653 C T het . 4 +exonic PRDM15 chr21 43279316 43279316 G A het . 5 +intronic PRDM15 chr21 43281668 43281668 G A het . 3 +intronic PRDM15 chr21 43297887 43297887 G A het . 2 +UTR3 C2CD2(NM_015500:c.*42T>C,NM_199050:c.*42T>C) chr21 43309191 43309191 A G het . 10 +intronic C2CD2 chr21 43315057 43315057 C T het . 10 +exonic C2CD2 chr21 43327793 43327793 C T het . 15 +exonic C2CD2 chr21 43327856 43327856 A G het . 28 +intronic C2CD2 chr21 43334669 43334669 G C het . 3 +intronic C2CD2 chr21 43334896 43334896 A G het . 2 +intronic C2CD2 chr21 43338175 43338175 C T het . 9 +intronic C2CD2 chr21 43338933 43338933 A T het . 8 +intronic C2CD2 chr21 43338948 43338948 A C het . 7 +intronic C2CD2 chr21 43339143 43339143 - TGTG het . 4 +intronic C2CD2 chr21 43339154 43339154 T C het . 4 +intronic C2CD2 chr21 43342046 43342046 G A het . 4 +intronic C2CD2 chr21 43362203 43362204 GT AC het . 5 +intronic C2CD2 chr21 43369002 43369002 C T het . 4 +intergenic C2CD2(dist=3659),ZBTB21(dist=29282) chr21 43377658 43377658 T C het . 2 +exonic ZBTB21 chr21 43413553 43413553 T G het . 18 +exonic ZBTB21 chr21 43413731 43413731 C T het . 35 +intronic ZBTB21 chr21 43426260 43426260 A G het . 4 +intronic ZBTB21 chr21 43427963 43427963 A C het . 2 +intergenic ZNF295-AS1(dist=14296),UMODL1(dist=23743) chr21 43459325 43459325 C T het . 3 +intergenic ZNF295-AS1(dist=24259),UMODL1(dist=13780) chr21 43469288 43469288 C T het . 5 +intronic UMODL1 chr21 43497416 43497416 C T het . 2 +exonic UMODL1 chr21 43504228 43504228 T C het . 5 +intronic UMODL1 chr21 43521837 43521837 G A het . 18 +exonic UMODL1 chr21 43531403 43531403 C G het . 12 +exonic UMODL1 chr21 43531553 43531553 A C het . 17 +exonic UMODL1 chr21 43531632 43531632 T C het . 9 +intronic UMODL1 chr21 43531848 43531848 C T het . 2 +exonic UMODL1 chr21 43535996 43535996 C A het . 18 +exonic UMODL1 chr21 43547788 43547788 T C het . 8 +exonic UMODL1 chr21 43547873 43547873 G A het . 17 +intergenic UMODL1(dist=27786),ABCG1(dist=28908) chr21 43590891 43590891 C T het . 4 +intergenic UMODL1(dist=29025),ABCG1(dist=27669) chr21 43592130 43592130 T - het . 4 +intergenic UMODL1(dist=31842),ABCG1(dist=24852) chr21 43594947 43594947 A G het . 2 +intronic ABCG1 chr21 43704650 43704650 C T het . 5 +intronic ABCG1 chr21 43708431 43708431 - C het . 9 +intronic ABCG1 chr21 43710096 43710096 G T het . 4 +exonic ABCG1 chr21 43714691 43714691 C A het . 23 +intergenic TFF3(dist=8896),TFF2(dist=21865) chr21 43744602 43744602 T C het . 2 +intergenic TFF3(dist=11451),TFF2(dist=19310) chr21 43747157 43747157 A - het . 2 +intergenic TFF3(dist=12665),TFF2(dist=18096) chr21 43748371 43748371 A - het . 2 +intergenic TFF3(dist=21118),TFF2(dist=9643) chr21 43756824 43756824 G A het . 1 +UTR3 TFF2(NM_005423:c.*82C>T) chr21 43766560 43766560 G A het . 15 +UTR3 TFF2(NM_005423:c.*69_*70insCTT) chr21 43766572 43766572 - AAG het . 17 +intronic TFF2 chr21 43767500 43767500 T A het . 6 +intronic TFF2 chr21 43770927 43770927 T - het . 3 +intergenic TFF2(dist=8200),TFF1(dist=2983) chr21 43779408 43779408 G A het . 9 +intergenic TFF2(dist=8302),TFF1(dist=2881) chr21 43779510 43779510 - TTTTCTTTTC het . 4 +intronic TFF1 chr21 43783346 43783346 C G het . 15 +exonic TFF1 chr21 43783380 43783380 G A het . 16 +upstream TFF1(dist=168) chr21 43786812 43786812 G A het . 2 +intergenic TFF1(dist=2046),TMPRSS3(dist=3306) chr21 43788690 43788690 C A het . 2 +UTR3 TMPRSS3(NM_024022:c.*578delG,NM_001256317:c.*578delG,NM_032404:c.*578delG) chr21 43792293 43792293 C - het . 11 +UTR3 TMPRSS3(NM_024022:c.*206A>G,NM_001256317:c.*206A>G,NM_032404:c.*206A>G) chr21 43792665 43792665 T C het . 25 +exonic TMPRSS3 chr21 43803167 43803167 T C het . 16 +intronic TMPRSS3 chr21 43805382 43805382 A G het . 4 +exonic TMPRSS3 chr21 43805637 43805637 C T het . 28 +intronic TMPRSS3 chr21 43805656 43805656 T C het . 29 +intronic TMPRSS3 chr21 43808927 43808927 A G het . 2 +intronic TMPRSS3 chr21 43808964 43808964 T A het . 7 +upstream TMPRSS3(dist=359) chr21 43816559 43816559 G A het . 46 +upstream TMPRSS3(dist=455) chr21 43816655 43816655 G A het . 49 +intergenic TMPRSS3(dist=4688),UBASH3A(dist=3083) chr21 43820888 43820888 G T het . 4 +upstream UBASH3A(dist=61) chr21 43823910 43823910 A G het . 1 +exonic UBASH3A chr21 43824106 43824106 A G het . 7 +exonic UBASH3A chr21 43824123 43824123 G C het . 7 +intronic UBASH3A chr21 43826344 43826344 C T het . 11 +intronic UBASH3A chr21 43826391 43826391 T C het . 17 +intronic UBASH3A chr21 43829758 43829758 G A het . 3 +intronic UBASH3A chr21 43846729 43846729 A G het . 9 +intronic UBASH3A chr21 43852037 43852037 T C het . 2 +intronic UBASH3A chr21 43862466 43862466 G A het . 4 +exonic UBASH3A chr21 43863521 43863521 A G het . 8 +intergenic UBASH3A(dist=22500),RSPH1(dist=2307) chr21 43890290 43890290 G A het . 2 +exonic RSPH1 chr21 43896143 43896143 C T het . 5 +intronic RSPH1 chr21 43897771 43897771 A G het . 3 +intronic RSPH1 chr21 43902956 43902956 T C het . 5 +exonic RSPH1 chr21 43905887 43905887 C T het . 15 +intronic RSPH1 chr21 43906351 43906351 G C het . 5 +UTR5 RSPH1(NM_080860:c.-43C>T,NM_001286506:c.-43C>T) chr21 43916339 43916339 G A het . 10 +intronic SLC37A1 chr21 43955427 43955427 A G het . 3 +intronic SLC37A1 chr21 43959770 43959770 A G het . 3 +intronic SLC37A1 chr21 43967126 43967126 G A het . 5 +intronic SLC37A1 chr21 43984126 43984126 C T het . 2 +intronic SLC37A1 chr21 43985016 43985016 G A het . 2 +exonic SLC37A1 chr21 43985955 43985955 G A het . 16 +intronic SLC37A1 chr21 43986046 43986046 C A het . 10 +intronic SLC37A1 chr21 43986117 43986117 - C het . 5 +intronic SLC37A1 chr21 43987903 43987903 G A het . 2 +intronic SLC37A1 chr21 43987958 43987958 C T het . 3 +intronic SLC37A1 chr21 43988437 43988437 G A het . 10 +intronic SLC37A1 chr21 43991916 43991916 - TCA het . 3 +intronic SLC37A1 chr21 43991942 43991942 A G het . 2 +intronic SLC37A1 chr21 43995923 43995923 G A het . 2 +intronic SLC37A1 chr21 43999983 43999983 T C het . 6 +intronic SLC37A1 chr21 44000052 44000052 A G het . 2 +intronic SLC37A1 chr21 44000063 44000063 T G het . 2 +intronic SLC37A1 chr21 44000078 44000078 T C het . 3 +intronic SLC37A1 chr21 44000366 44000366 A G het . 12 +downstream LINC01671(dist=191) chr21 44019323 44019323 G A het . 1 +ncRNA_intronic LINC01671 chr21 44022258 44022258 G A het . 2 +intergenic LINC01671(dist=11229),PDE9A(dist=27428) chr21 44046434 44046434 A C het . 2 +upstream PDE9A(dist=29) chr21 44073833 44073833 C G het . 3 +intronic PDE9A chr21 44078799 44078799 G A het . 2 +intronic PDE9A chr21 44107989 44107989 A G het . 8 +intronic PDE9A chr21 44153637 44153640 AAAT - het . 5 +intronic PDE9A chr21 44154673 44154673 G A het . 2 +intronic PDE9A chr21 44163839 44163839 A G het . 5 +intronic PDE9A chr21 44164950 44164950 C T het . 2 +intronic PDE9A chr21 44166588 44166588 A C het . 2 +intronic PDE9A chr21 44169928 44169928 C A het . 2 +intronic PDE9A chr21 44170727 44170727 C T het . 3 +intronic PDE9A chr21 44172809 44172809 T C het . 2 +intronic PDE9A chr21 44173097 44173097 A G het . 3 +intronic PDE9A chr21 44175695 44175695 G A het . 2 +intronic PDE9A chr21 44176562 44176562 A G het . 2 +exonic PDE9A chr21 44180443 44180443 C T het . 10 +intronic PDE9A chr21 44180613 44180613 G A het . 2 +intronic PDE9A chr21 44188250 44188250 C - het . 10 +intronic PDE9A chr21 44188475 44188475 - A het . 2 +intronic PDE9A chr21 44190378 44190378 C T het . 2 +intronic PDE9A chr21 44190727 44190727 C T het . 8 +intergenic LINC01668(dist=13258),WDR4(dist=49828) chr21 44213362 44213362 C T het . 3 +intergenic LINC01668(dist=44137),WDR4(dist=18949) chr21 44244241 44244241 C T het . 2 +intergenic LINC01668(dist=50784),WDR4(dist=12302) chr21 44250888 44250888 G A het . 2 +exonic WDR4 chr21 44270229 44270229 C T het . 16 +intronic WDR4 chr21 44270402 44270402 C G het . 3 +exonic WDR4 chr21 44273858 44273858 G A het . 8 +intronic WDR4 chr21 44274845 44274845 A G het . 3 +intronic WDR4 chr21 44278105 44278105 G A het . 2 +intronic WDR4 chr21 44279888 44279888 G A het . 7 +intronic WDR4 chr21 44292767 44292767 G A het . 2 +exonic WDR4 chr21 44293744 44293744 C G het . 17 +intronic WDR4 chr21 44296740 44296740 T C het . 8 +intronic WDR4 chr21 44296934 44296934 T - het . 8 +intronic WDR4 chr21 44296934 44296934 T A het . 8 +intronic WDR4 chr21 44296935 44296935 T A het . 8 +intronic WDR4 chr21 44296992 44296992 G A het . 3 +intronic WDR4 chr21 44297041 44297041 G A het . 2 +intronic WDR4 chr21 44297742 44297742 C T het . 1 +intronic NDUFV3 chr21 44317381 44317381 T C het . 5 +intronic NDUFV3 chr21 44320500 44320500 T C het . 2 +exonic NDUFV3 chr21 44323590 44323590 T G het . 50 +exonic NDUFV3 chr21 44324365 44324365 G A het . 25 +intronic NDUFV3 chr21 44327015 44327015 G A het . 18 +exonic ERVH48-1 chr21 44338668 44338668 G A het . 10 +intergenic ERVH48-1(dist=17047),MIR5692B(dist=8283) chr21 44362755 44362755 C T het . 2 +intergenic MIR5692B(dist=14354),PKNOX1(dist=9142) chr21 44385478 44385478 G A het . 2 +intergenic MIR5692B(dist=14359),PKNOX1(dist=9137) chr21 44385483 44385483 G A het . 2 +intergenic MIR5692B(dist=15247),PKNOX1(dist=8249) chr21 44386371 44386371 C T het . 2 +intronic PKNOX1 chr21 44401317 44401317 C T het . 2 +intronic PKNOX1 chr21 44401496 44401496 T G het . 2 +intronic PKNOX1 chr21 44405019 44405019 - GA het . 3 +exonic PKNOX1 chr21 44430325 44430325 T C het . 7 +intronic PKNOX1 chr21 44437142 44437142 A G het . 11 +intronic PKNOX1 chr21 44443871 44443871 T C het . 2 +intronic PKNOX1 chr21 44444775 44444775 G A het . 2 +intronic PKNOX1 chr21 44444777 44444777 A G het . 2 +intronic PKNOX1 chr21 44449095 44449095 G A het . 2 +UTR3 PKNOX1(NM_004571:c.*2194G>A,NM_001320694:c.*2194G>A,NM_001286258:c.*2194G>A) chr21 44452405 44452405 G A het . 14 +UTR3 PKNOX1(NM_004571:c.*2244T>C,NM_001320694:c.*2244T>C,NM_001286258:c.*2244T>C) chr21 44452455 44452455 T C het . 7 +UTR3 CBS(NM_001320298:c.*565C>T,NM_001321072:c.*565C>T,NM_001178009:c.*351C>T,NM_001178008:c.*565C>T,NM_000071:c.*565C>T),CBSL(NM_001354015:c.*351C>T,NM_001354008:c.*565C>T,NM_001354006:c.*565C>T,NM_001354014:c.*565C>T,NM_001354012:c.*565C>T,NM_001354009:c.*565C>T,NM_001321073:c.*351C>T,NM_001354007:c.*351C>T,NM_001354010:c.*351C>T) chr21 44473425 44473425 G A het . 2 +UTR3 CBS(NM_001320298:c.*544T>C,NM_001321072:c.*544T>C,NM_001178009:c.*330T>C,NM_001178008:c.*544T>C,NM_000071:c.*544T>C),CBSL(NM_001354015:c.*330T>C,NM_001354008:c.*544T>C,NM_001354006:c.*544T>C,NM_001354014:c.*544T>C,NM_001354012:c.*544T>C,NM_001354009:c.*544T>C,NM_001321073:c.*330T>C,NM_001354007:c.*330T>C,NM_001354010:c.*330T>C) chr21 44473446 44473446 A G het . 2 +exonic CBS,CBSL chr21 44480616 44480616 G A het . 17 +intronic CBS,CBSL chr21 44485720 44485720 A C het . 16 +UTR5 CBS(NM_001321072:c.-145A>G) chr21 44488033 44488033 T C het . 3 +intronic CBS,CBSL chr21 44488756 44488756 A - het . 11 +intronic CBS,CBSL chr21 44492603 44492603 C G het . 2 +intergenic CBSL(dist=12105),U2AF1L5(dist=3908) chr21 44509158 44509158 T C het . 2 +intergenic CBSL(dist=14241),U2AF1L5(dist=1772) chr21 44511294 44511294 G C het . 2 +intronic U2AF1,U2AF1L5 chr21 44514488 44514488 G A het . 4 +intronic U2AF1,U2AF1L5 chr21 44514969 44514969 - TG het . 18 +intronic U2AF1,U2AF1L5 chr21 44515504 44515504 T C het . 9 +intronic U2AF1,U2AF1L5 chr21 44515685 44515685 T C het . 14 +UTR5 U2AF1(NM_006758:c.-65A>C,NM_001025204:c.-11836A>C,NM_001025203:c.-65A>C),U2AF1L5(NM_001320648:c.-65A>C,NM_001320651:c.-11836A>C,NM_001320650:c.-3198A>C,NM_001320646:c.-65A>C) chr21 44527669 44527669 T G het . 17 +intergenic U2AF1L5(dist=9645),LOC106780825(dist=23272) chr21 44537361 44537361 A G het . 8 +intergenic U2AF1L5(dist=9767),LOC106780825(dist=23150) chr21 44537483 44537483 T C het . 3 +exonic CRYAA,CRYAA2 chr21 44589215 44589215 C T het . 21 +intronic CRYAA,CRYAA2 chr21 44590127 44590127 G A het . 2 +intergenic CRYAA(dist=6403),LINC00322(dist=142766) chr21 44599323 44599323 T C het . 2 +downstream LINC00322(dist=538) chr21 44741551 44741551 C T het . 2 +exonic SIK1,SIK1B chr21 44837551 44837551 G A het . 9 +exonic SIK1,SIK1B chr21 44837555 44837555 G A het . 9 +intergenic LINC01669(dist=33388),HSF2BP(dist=16270) chr21 44932802 44932802 G A het . 3 +intronic HSF2BP chr21 44968005 44968005 - C het . 2 +exonic H2BFS chr21 44985473 44985473 C T het . 4 +intronic HSF2BP chr21 45001227 45001227 T A het . 2 +intronic HSF2BP chr21 45006607 45006607 C T het . 3 +intronic HSF2BP chr21 45014284 45014284 A T het . 2 +intronic HSF2BP chr21 45030965 45030965 T A het . 1 +intronic HSF2BP chr21 45044672 45044672 G C het . 2 +intronic HSF2BP chr21 45064296 45064296 C A het . 9 +intronic HSF2BP chr21 45076373 45076373 A G het . 10 +intronic HSF2BP chr21 45076443 45076443 A G het . 21 +intronic HSF2BP chr21 45077865 45077865 G A het . 6 +intronic RRP1B chr21 45085552 45085552 A G het . 2 +intronic RRP1B chr21 45089877 45089877 G A het . 6 +intronic RRP1B chr21 45092095 45092095 G C het . 3 +intronic RRP1B chr21 45092257 45092257 T A het . 11 +intronic RRP1B chr21 45094497 45094497 C A het . 7 +intronic RRP1B chr21 45095968 45095968 C A het . 2 +exonic RRP1B chr21 45096206 45096206 G A het . 22 +exonic RRP1B chr21 45107562 45107562 T C het . 3 +UTR3 RRP1B(NM_015056:c.*1792delT) chr21 45115056 45115056 T - het . 2 +intergenic RRP1B(dist=9903),PDXK(dist=13115) chr21 45125863 45125863 A G het . 2 +intronic PDXK chr21 45145286 45145286 C T het . 2 +intronic PDXK chr21 45156674 45156674 T G het . 5 +intronic PDXK chr21 45168976 45168985 TTTATTTTAC - het . 17 +intronic PDXK chr21 45169005 45169005 A G het . 18 +UTR3 PDXK(NM_003681:c.*14T>C,NM_001331030:c.*14T>C) chr21 45175958 45175958 T C het . 6 +intergenic PDXK(dist=4655),CSTB(dist=6703) chr21 45186843 45186843 C A het . 2 +intronic CSTB chr21 45194709 45194709 C A het . 15 +intronic CSTB chr21 45195996 45195996 A G het . 8 +intronic RRP1 chr21 45215046 45215046 T C het . 7 +intronic RRP1 chr21 45215055 45215055 C G het . 8 +exonic RRP1 chr21 45217559 45217559 T C het . 17 +intronic RRP1 chr21 45217753 45217753 C T het . 3 +exonic RRP1 chr21 45217929 45217929 T C het . 8 +exonic RRP1 chr21 45219524 45219524 T C het . 12 +exonic RRP1 chr21 45220483 45220483 A G het . 25 +intronic RRP1 chr21 45220570 45220570 T C het . 4 +intronic RRP1 chr21 45220626 45220626 - C het . 8 +intronic RRP1 chr21 45220787 45220787 A G het . 10 +intronic RRP1 chr21 45222058 45222058 A G het . 6 +intergenic AATBC(dist=37027),AGPAT3(dist=15641) chr21 45269475 45269475 C T het . 4 +intronic AGPAT3 chr21 45376739 45376739 A G het . 2 +intronic AGPAT3 chr21 45389578 45389579 TG - het . 4 +intergenic AGPAT3(dist=11131),TRAPPC10(dist=13600) chr21 45418606 45418606 A T het . 1 +exonic TRAPPC10 chr21 45479055 45479055 C T het . 11 +intronic TRAPPC10 chr21 45512651 45512651 - T het . 2 +intronic TRAPPC10 chr21 45514142 45514142 G - het . 10 +intronic TRAPPC10 chr21 45514149 45514149 A G het . 11 +intronic TRAPPC10 chr21 45514168 45514168 C T het . 9 +intronic TRAPPC10 chr21 45514188 45514188 A G het . 6 +exonic PWP2 chr21 45528919 45528919 G A het . 20 +intronic PWP2 chr21 45534032 45534032 C T het . 3 +exonic PWP2 chr21 45538647 45538647 T C het . 7 +intronic PWP2 chr21 45538725 45538725 C A het . 9 +intronic PWP2 chr21 45538782 45538782 A T het . 6 +intronic PWP2 chr21 45539426 45539426 G A het . 2 +intronic PWP2 chr21 45540207 45540207 C T het . 3 +exonic PWP2 chr21 45540919 45540919 A G het . 13 +exonic PWP2 chr21 45544594 45544594 T C het . 10 +intronic PWP2 chr21 45550461 45550461 C - het . 2 +upstream GATD3A,GATD3B(dist=861) chr21 45552633 45552633 C T het . 2 +exonic GATD3A,GATD3B chr21 45553596 45553596 T C het . 20 +intronic GATD3A,GATD3B chr21 45556186 45556186 A G het . 3 +UTR3 GATD3A(NM_001320384:c.*83T>C) chr21 45561039 45561039 T C het . 3 +UTR3 GATD3A(NM_198155:c.*101delT,NM_004649:c.*101delT),GATD3B(NM_001363761:c.*101delT,NM_001363760:c.*101delT,NM_001363758:c.*101delT) chr21 45564932 45564932 T - het . 4 +UTR3 GATD3A(NM_198155:c.*642C>T,NM_004649:c.*642C>T),GATD3B(NM_001363761:c.*642C>T,NM_001363760:c.*642C>T,NM_001363758:c.*642C>T) chr21 45565473 45565473 C T het . 19 +downstream LINC01678(dist=517) chr21 45578139 45578139 T C het . 3 +upstream LINC01678(dist=60) chr21 45579805 45579805 C - het . 2 +upstream LINC01678(dist=136) chr21 45579881 45579881 - AT het . 2 +upstream LINC01678(dist=156) chr21 45579901 45579901 A G het . 2 +intergenic LINC01678(dist=36151),ICOSLG(dist=26982) chr21 45615896 45615896 T C het . 2 +intergenic LINC01678(dist=36172),ICOSLG(dist=26961) chr21 45615917 45615917 T C het . 1 +intronic ICOSLG chr21 45643008 45643008 A G het . 11 +intronic ICOSLG,LOC102723996 chr21 45648992 45648992 T C het . 12 +intronic ICOSLG,LOC102723996 chr21 45649494 45649494 A G het . 11 +intronic ICOSLG,LOC102723996 chr21 45649543 45649543 G C het . 6 +intronic ICOSLG,LOC102723996 chr21 45649666 45649666 G A het . 7 +intronic ICOSLG,LOC102723996 chr21 45649778 45649778 A G het . 17 +intronic ICOSLG,LOC102723996 chr21 45649848 45649848 T C het . 15 +intronic ICOSLG,LOC102723996 chr21 45650009 45650009 T C het . 3 +intronic ICOSLG,LOC102723996 chr21 45651413 45651413 A G het . 4 +UTR5 ICOSLG(NM_001283050:c.-135G>T,NM_015259:c.-135G>T,NM_001283052:c.-3935G>T,NM_001283051:c.-135G>T),LOC102723996(NM_001363770:c.-135G>T) chr21 45660835 45660835 C A het . 2 +upstream ICOSLG,LOC102723996(dist=456) chr21 45661343 45661343 C T het . 2 +exonic DNMT3L chr21 45670770 45670770 T C het . 9 +intronic DNMT3L chr21 45677248 45677248 A G het . 2 +intronic DNMT3L chr21 45680807 45680807 C T het . 15 +intronic DNMT3L chr21 45681153 45681153 T C het . 3 +intergenic DNMT3L(dist=17940),AIRE(dist=5682) chr21 45700039 45700039 A G het . 1 +exonic AIRE chr21 45709568 45709568 C T het . 14 +intronic AIRE chr21 45710732 45710732 C A het . 20 +exonic AIRE chr21 45712254 45712254 C T het . 15 +intronic AIRE chr21 45712358 45712358 C - het . 3 +exonic PFKL chr21 45732116 45732116 C T het . 3 +intronic PFKL chr21 45733911 45733911 G A het . 6 +intronic PFKL chr21 45742115 45742115 G A het . 7 +intronic PFKL chr21 45742822 45742822 T C het . 3 +intronic PFKL chr21 45743594 45743594 C T het . 2 +intronic PFKL chr21 45746214 45746214 A C het . 4 +intronic PFKL chr21 45746225 45746225 G A het . 4 +intronic CFAP410 chr21 45757631 45757631 G A het . 12 +exonic CFAP410 chr21 45759045 45759045 C T het . 7 +intronic TRPM2 chr21 45789011 45789011 - G het . 3 +intronic TRPM2 chr21 45799164 45799164 T C het . 4 +exonic TRPM2 chr21 45811343 45811343 T G het . 20 +intronic TRPM2 chr21 45817620 45817620 T C het . 2 +intronic TRPM2 chr21 45821794 45821794 C T het . 9 +intronic TRPM2 chr21 45825975 45825975 G A het . 4 +intronic TRPM2 chr21 45826434 45826434 C T het . 2 +intronic TRPM2 chr21 45826462 45826462 C A het . 6 +intronic TRPM2 chr21 45826744 45826744 A G het . 3 +intronic TRPM2 chr21 45828841 45828841 T C het . 2 +intronic TRPM2 chr21 45834025 45834025 T C het . 1 +ncRNA_intronic TRPM2-AS chr21 45838223 45838223 C T het . 4 +ncRNA_intronic TRPM2-AS chr21 45843708 45843710 GAG - het . 4 +exonic TRPM2 chr21 45844751 45844751 A G het . 7 +ncRNA_intronic LRRC3-DT chr21 45873177 45873177 - A het . 2 +UTR3 LRRC3(NM_030891:c.*1336A>G) chr21 45878637 45878637 A G het . 2 +ncRNA_exonic TSPEAR-AS2 chr21 45937564 45937565 AT - het . 3 +UTR3 KRTAP10-1(NM_198691:c.*88T>G) chr21 45959097 45959097 A C het . 4 +exonic KRTAP10-1 chr21 45959312 45959312 C T het . 21 +exonic KRTAP10-1 chr21 45959907 45959907 G T het . 24 +exonic KRTAP10-1 chr21 45959918 45959918 G A het . 22 +intronic TSPEAR chr21 45962311 45962311 T G het . 3 +exonic KRTAP10-2 chr21 45970812 45970812 G A het . 35 +intronic TSPEAR chr21 45973906 45973906 G A het . 2 +exonic KRTAP10-3 chr21 45977996 45978106 GGGGCGGCAGAGGAGGGACACGCAGGAGGCCGGGCGGCAGCAGCTGGGCTGGCAGGTGGAGGCAGGGGCACAGCAGGAGGGGATGGGCACACAGCAGGTGGACCTGCACAC - het . 37 +exonic KRTAP10-3 chr21 45978090 45978090 C T het . 17 +intronic TSPEAR chr21 45980477 45980477 C T het . 2 +intronic TSPEAR chr21 46008215 46008215 C T het . 2 +exonic KRTAP10-6 chr21 46011468 46011468 G A het . 11 +exonic KRTAP10-6 chr21 46011583 46011583 G T het . 26 +exonic KRTAP10-6 chr21 46011745 46011745 C T het . 15 +exonic KRTAP10-6 chr21 46011751 46011751 C T het . 14 +intronic TSPEAR chr21 46020311 46020311 G A het . 2 +exonic KRTAP10-7 chr21 46020527 46020527 C T het . 13 +exonic KRTAP10-7 chr21 46020867 46020867 A G het . 4 +exonic KRTAP10-7 chr21 46021370 46021370 T C het . 16 +exonic KRTAP10-7 chr21 46021390 46021390 G C het . 9 +exonic KRTAP10-7 chr21 46021607 46021607 A G het . 7 +intronic TSPEAR chr21 46031332 46031332 T C het . 6 +exonic KRTAP10-8 chr21 46032094 46032094 A G het . 24 +exonic KRTAP10-9 chr21 46047418 46047418 C T het . 6 +exonic KRTAP10-9 chr21 46047633 46047633 A G het . 37 +exonic KRTAP10-9 chr21 46047710 46047710 T C het . 21 +exonic KRTAP10-9 chr21 46047857 46047857 C T het . 31 +exonic KRTAP10-9 chr21 46047925 46047925 G T het . 11 +UTR3 KRTAP10-9(NM_198690:c.*4T>C) chr21 46047971 46047971 T C het . 7 +exonic KRTAP10-10 chr21 46057393 46057393 T A het . 9 +exonic KRTAP10-10 chr21 46057548 46057548 A C het . 26 +exonic KRTAP10-10 chr21 46057590 46057590 A T het . 25 +exonic KRTAP10-10 chr21 46057613 46057627 CTGCTGTGTGCCTGT - het . 20 +exonic KRTAP10-10 chr21 46057806 46057806 G A het . 26 +exonic KRTAP10-11 chr21 46066764 46066764 C T het . 26 +exonic KRTAP10-11 chr21 46067180 46067180 C T het . 26 +intronic TSPEAR chr21 46070034 46070034 T C het . 2 +exonic KRTAP12-4 chr21 46074202 46074202 A G het . 7 +exonic KRTAP12-3 chr21 46077946 46077946 A G het . 14 +UTR3 KRTAP12-3(NM_198697:c.*33T>C) chr21 46078220 46078220 T C het . 2 +intronic TSPEAR chr21 46085425 46085425 T C het . 2 +exonic KRTAP12-2 chr21 46086718 46086719 GA CG het . 23 +exonic KRTAP12-2 chr21 46086757 46086758 GC AT het . 16 +intronic TSPEAR chr21 46091879 46091879 G A het . 2 +intronic TSPEAR chr21 46093135 46093135 C T het . 2 +intronic TSPEAR chr21 46096231 46096231 A G het . 8 +intronic TSPEAR chr21 46096657 46096657 G C het . 16 +intronic TSPEAR chr21 46096731 46096731 A G het . 22 +intronic TSPEAR chr21 46097004 46097004 A C het . 11 +intronic TSPEAR chr21 46097220 46097220 G C het . 4 +intronic TSPEAR chr21 46097417 46097417 C G het . 16 +intronic TSPEAR chr21 46097518 46097518 G T het . 21 +intronic TSPEAR chr21 46097922 46097922 A G het . 18 +intronic TSPEAR chr21 46097996 46097996 C T het . 7 +intronic TSPEAR chr21 46098573 46098573 T C het . 2 +intronic TSPEAR chr21 46103972 46103972 A C het . 1 +intronic TSPEAR chr21 46106414 46106414 A G het . 2 +intronic TSPEAR chr21 46112862 46112862 G A het . 2 +intronic TSPEAR chr21 46112873 46112873 G A het . 2 +intronic TSPEAR chr21 46122331 46122331 A C het . 31 +intronic TSPEAR chr21 46122658 46122658 G C het . 3 +UTR3 UBE2G2(NM_182688:c.*22G>A,NM_001202489:c.*22G>A,NM_003343:c.*22G>A) chr21 46191270 46191270 C T het . 6 +intronic UBE2G2 chr21 46197450 46197450 C T het . 12 +intronic UBE2G2 chr21 46203641 46203641 C A het . 2 +intronic UBE2G2 chr21 46207886 46207886 G A het . 22 +intronic UBE2G2 chr21 46208128 46208128 G C het . 5 +ncRNA_intronic LINC01424 chr21 46223334 46223334 - A het . 2 +UTR3 SUMO3(NM_006936:c.*80T>C,NM_001286416:c.*80T>C) chr21 46226786 46226786 A G het . 2 +intronic SUMO3 chr21 46227163 46227163 A G het . 2 +intronic SUMO3 chr21 46232972 46232972 A G het . 1 +intergenic SUMO3(dist=16567),PTTG1IP(dist=14889) chr21 46254611 46254611 C G het . 2 +intergenic SUMO3(dist=30351),PTTG1IP(dist=1105) chr21 46268395 46268395 - T het . 4 +exonic PTTG1IP chr21 46271452 46271452 C T het . 9 +exonic PTTG1IP chr21 46271460 46271460 T C het . 9 +intronic PTTG1IP chr21 46277326 46277326 T C het . 2 +intronic PTTG1IP chr21 46283260 46283260 - G het . 2 +intronic PTTG1IP chr21 46285416 46285416 T C het . 12 +intronic PTTG1IP chr21 46285561 46285561 C T het . 2 +intergenic PTTG1IP(dist=9831),ITGB2(dist=2220) chr21 46303649 46303649 A G het . 2 +intronic ITGB2 chr21 46308558 46308558 C T het . 10 +exonic ITGB2 chr21 46311813 46311813 A G het . 22 +exonic ITGB2 chr21 46313442 46313442 G T het . 31 +exonic ITGB2 chr21 46314907 46314907 T A het . 33 +intronic ITGB2 chr21 46315022 46315022 C T het . 10 +exonic ITGB2 chr21 46320313 46320313 C T het . 24 +intronic ITGB2 chr21 46320403 46320403 C T het . 17 +intronic ITGB2 chr21 46326815 46326815 C T het . 17 +intronic ITGB2 chr21 46327835 46327835 A G het . 6 +intronic ITGB2 chr21 46328026 46328026 G A het . 17 +intronic ITGB2 chr21 46328099 46328099 T C het . 5 +exonic ITGB2 chr21 46330674 46330674 C A het . 19 +ncRNA_intronic ITGB2-AS1 chr21 46344426 46344426 A G het . 2 +ncRNA_exonic LINC01547 chr21 46354055 46354055 A G het . 5 +ncRNA_exonic LINC01547 chr21 46355710 46355710 A G het . 6 +ncRNA_intronic LINC01547 chr21 46359427 46359427 A G het . 8 +intergenic PICSAR(dist=19645),SSR4P1(dist=46583) chr21 46444287 46444287 C T het . 2 +intronic ADARB1 chr21 46512506 46512506 T G het . 2 +intronic ADARB1 chr21 46523261 46523261 G A het . 2 +intronic ADARB1 chr21 46525101 46525101 T C het . 2 +intronic ADARB1 chr21 46564335 46564335 C A het . 2 +exonic ADARB1 chr21 46572572 46572572 A G het . 6 +intronic ADARB1 chr21 46579109 46579109 G A het . 3 +intronic ADARB1 chr21 46640676 46640676 T C het . 5 +intronic ADARB1 chr21 46640686 46640686 G T het . 5 +intronic POFUT2 chr21 46698445 46698445 G C het . 2 +intronic POFUT2 chr21 46702553 46702553 T C het . 4 +intronic POFUT2 chr21 46702822 46702822 A G het . 12 +exonic POFUT2 chr21 46703395 46703395 C T het . 19 +ncRNA_exonic COL18A1-AS1 chr21 46841398 46841398 G A het . 11 +ncRNA_intronic COL18A1-AS1 chr21 46842267 46842267 G A het . 3 +exonic COL18A1 chr21 46875564 46875564 T C het . 29 +exonic COL18A1 chr21 46876083 46876083 A G het . 5 +exonic COL18A1 chr21 46876173 46876173 C T het . 7 +exonic COL18A1 chr21 46876306 46876306 G A het . 4 +exonic COL18A1 chr21 46876580 46876580 C T het . 8 +intronic COL18A1 chr21 46893767 46893767 A G het . 19 +intronic COL18A1 chr21 46895507 46895507 G A het . 4 +exonic COL18A1 chr21 46896303 46896303 C G het . 30 +exonic COL18A1 chr21 46896312 46896312 G T het . 34 +intronic COL18A1 chr21 46897214 46897214 C T het . 2 +intronic COL18A1 chr21 46897253 46897253 T C het . 5 +intronic COL18A1 chr21 46899947 46899947 G A het . 22 +intronic COL18A1 chr21 46900214 46900214 G A het . 3 +intronic COL18A1 chr21 46900856 46900856 C T het . 5 +intronic COL18A1 chr21 46901973 46901973 A C het . 9 +intronic COL18A1 chr21 46902180 46902180 T C het . 4 +intronic COL18A1 chr21 46902273 46902273 A G het . 12 +intronic COL18A1 chr21 46906627 46906627 C T het . 4 +intronic COL18A1 chr21 46906711 46906711 G A het . 4 +intronic COL18A1 chr21 46907479 46907479 G A het . 15 +exonic COL18A1 chr21 46908355 46908355 T C het . 30 +exonic COL18A1 chr21 46909400 46909400 G A het . 8 +intronic COL18A1 chr21 46911276 46911276 G T het . 7 +intronic COL18A1 chr21 46911299 46911299 - C het . 4 +intronic COL18A1 chr21 46912386 46912386 C T het . 25 +intronic COL18A1 chr21 46912658 46912658 - CCCGCCACTGCCCT het . 20 +intronic COL18A1 chr21 46912947 46912947 C T het . 3 +intronic COL18A1 chr21 46912970 46912970 T A het . 6 +intronic COL18A1 chr21 46913300 46913300 G A het . 12 +intronic COL18A1 chr21 46913310 46913310 C G het . 14 +intronic COL18A1 chr21 46913517 46913517 A G het . 13 +intronic COL18A1 chr21 46914576 46914576 C T het . 9 +intronic COL18A1 chr21 46915042 46915042 A G het . 3 +intronic COL18A1 chr21 46916517 46916517 C - het . 8 +intronic COL18A1 chr21 46918574 46918574 T C het . 2 +intronic COL18A1 chr21 46924209 46924209 C A het . 2 +exonic COL18A1 chr21 46924426 46924434 GGCCCCCCA - het . 13 +intronic COL18A1 chr21 46924568 46924568 G A het . 3 +intronic COL18A1 chr21 46924931 46924931 G A het . 3 +intronic COL18A1 chr21 46925425 46925425 C A het . 6 +intronic COL18A1 chr21 46926054 46926054 T C het . 3 +intronic COL18A1 chr21 46927412 46927412 A T het . 2 +exonic COL18A1 chr21 46929467 46929467 G A het . 11 +intronic COL18A1 chr21 46929523 46929523 C - het . 24 +intronic COL18A1 chr21 46930700 46930700 A G het . 2 +intronic COL18A1 chr21 46930992 46930993 AC CA het . 11 +intronic COL18A1 chr21 46931004 46931004 - AC het . 16 +UTR3 COL18A1(NM_130445:c.*16G>A,NM_030582:c.*16G>A,NM_130444:c.*16G>A) chr21 46932328 46932328 G A het . 22 +UTR3 COL18A1(NM_130445:c.*71G>A,NM_030582:c.*71G>A,NM_130444:c.*71G>A) chr21 46932383 46932383 G A het . 8 +UTR3 SLC19A1(NM_194255:c.*494_*493delTT,NM_001352512:c.*494_*493delTT,NM_001205207:c.*494_*493delTT,NM_001352510:c.*494_*493delTT) chr21 46935078 46935079 AA - het . 6 +intronic SLC19A1 chr21 46954343 46954343 T C het . 6 +exonic SLC19A1 chr21 46957721 46957721 G T het . 5 +exonic SLC19A1 chr21 46957743 46957743 C A het . 10 +intronic SLC19A1 chr21 46965499 46965499 C T het . 2 +intergenic SLC19A1(dist=19474),LINC01694(dist=11065) chr21 47002503 47002503 C - het . 2 +ncRNA_intronic LINC01694 chr21 47014657 47014657 A G het . 2 +ncRNA_intronic LINC01694 chr21 47014665 47014665 C G het . 1 +intergenic LINC01694(dist=28817),PCBP3(dist=11852) chr21 47051787 47051787 C G het . 2 +intronic PCBP3 chr21 47098232 47098232 A T het . 3 +intronic PCBP3 chr21 47110517 47110517 A C het . 1 +intronic PCBP3 chr21 47164491 47164491 - T het . 2 +intronic PCBP3 chr21 47243646 47243646 - A het . 2 +intronic PCBP3 chr21 47305605 47305605 G A het . 2 +intronic PCBP3 chr21 47320425 47320425 T C het . 5 +intronic PCBP3 chr21 47320605 47320605 G A het . 2 +intronic PCBP3 chr21 47320633 47320633 T C het . 3 +exonic PCBP3 chr21 47329289 47329289 C A het . 6 +exonic PCBP3 chr21 47329352 47329352 T C het . 14 +intronic PCBP3 chr21 47350796 47350796 G A het . 7 +intronic PCBP3 chr21 47355443 47355443 C A het . 10 +UTR5 COL6A1(NM_001848:c.-5C>G) chr21 47401760 47401760 C G het . 9 +intronic COL6A1 chr21 47404397 47404397 A G het . 11 +intronic COL6A1 chr21 47406612 47406612 C A het . 15 +intronic COL6A1 chr21 47407362 47407362 C T het . 10 +intronic COL6A1 chr21 47409503 47409503 A G het . 18 +intronic COL6A1 chr21 47409722 47409722 T C het . 20 +intronic COL6A1 chr21 47410626 47410626 T G het . 27 +exonic COL6A1 chr21 47410931 47410931 T C het . 27 +intronic COL6A1 chr21 47412751 47412751 A C het . 6 +intronic COL6A1 chr21 47412840 47412840 C T het . 2 +intronic COL6A1 chr21 47417206 47417206 A G het . 2 +intronic COL6A1 chr21 47417415 47417415 C A het . 8 +intronic COL6A1 chr21 47417432 47417432 - G het . 6 +intronic COL6A1 chr21 47417975 47417975 A G het . 10 +intronic COL6A1 chr21 47418728 47418728 - T het . 13 +intronic COL6A1 chr21 47420566 47420582 GGAGGGCGGCCGGGGAG - het . 12 +intronic COL6A1 chr21 47420726 47420726 C G het . 20 +intronic COL6A1 chr21 47420761 47420761 G A het . 14 +intronic COL6A1 chr21 47420769 47420769 A G het . 11 +intronic COL6A1 chr21 47421315 47421315 C T het . 15 +intronic COL6A1 chr21 47421864 47421864 C T het . 7 +intronic COL6A1 chr21 47422412 47422412 C T het . 18 +intergenic COL6A1(dist=3740),COL6A2(dist=89330) chr21 47428703 47428703 A C het . 2 +intergenic COL6A1(dist=11267),COL6A2(dist=81803) chr21 47436230 47436230 C T het . 4 +intergenic COL6A1(dist=11364),COL6A2(dist=81706) chr21 47436327 47436327 T G het . 2 +intronic COL6A2 chr21 47520424 47520424 G A het . 2 +exonic COL6A2 chr21 47532093 47532093 G A het . 15 +intronic COL6A2 chr21 47532544 47532544 C T het . 4 +intronic COL6A2 chr21 47536546 47536546 C T het . 22 +intronic COL6A2 chr21 47537666 47537666 - G het . 3 +intronic COL6A2 chr21 47538439 47538439 C T het . 4 +intronic COL6A2 chr21 47538691 47538691 G T het . 9 +exonic COL6A2 chr21 47538960 47538960 G A het . 25 +intronic COL6A2 chr21 47539790 47539790 A G het . 12 +intronic COL6A2 chr21 47540349 47540349 C T het . 4 +intronic COL6A2 chr21 47541553 47541553 A G het . 9 +intronic COL6A2 chr21 47541986 47541986 T C het . 8 +intronic COL6A2 chr21 47542378 47542378 C T het . 21 +intronic COL6A2 chr21 47542634 47542634 T C het . 6 +intronic COL6A2 chr21 47542654 47542654 - C het . 7 +intronic COL6A2 chr21 47542779 47542779 C T het . 20 +intronic COL6A2 chr21 47542861 47542861 A G het . 31 +intronic COL6A2 chr21 47544528 47544528 G T het . 12 +intronic COL6A2 chr21 47544541 47544541 C G het . 15 +intronic COL6A2 chr21 47544662 47544662 A G het . 4 +intronic COL6A2 chr21 47545155 47545155 A G het . 2 +intronic COL6A2 chr21 47545310 47545310 T C het . 2 +exonic COL6A2 chr21 47545768 47545768 G A het . 11 +exonic COL6A2 chr21 47545823 47545823 G A het . 17 +exonic COL6A2 chr21 47545826 47545826 C T het . 17 +exonic COL6A2 chr21 47545913 47545913 G A het . 21 +intronic COL6A2 chr21 47546244 47546244 T C het . 2 +intronic COL6A2 chr21 47551833 47551833 C T het . 10 +exonic COL6A2 chr21 47552130 47552130 A G het . 39 +exonic COL6A2 chr21 47552385 47552385 C T het . 10 +UTR3 FTCD(NM_206965:c.*108G>A) chr21 47556793 47556793 C T het . 8 +UTR3 FTCD(NM_206965:c.*92G>A) chr21 47556809 47556809 C T het . 9 +intronic FTCD chr21 47557074 47557074 A G het . 19 +intronic FTCD chr21 47558351 47558351 C A het . 10 +exonic FTCD chr21 47558473 47558473 G C het . 26 +intronic FTCD chr21 47558586 47558586 A G het . 11 +intronic FTCD chr21 47570008 47570008 A C het . 21 +exonic FTCD chr21 47572887 47572887 C T het . 3 +intronic FTCD chr21 47575372 47575372 C T het . 37 +UTR3 LSS(NM_001001438:c.*194C>T) chr21 47608580 47608580 G A het . 27 +UTR3 LSS(NM_001145437:c.*1341T>C,NM_001145436:c.*1341T>C,NM_002340:c.*1341T>C) chr21 47609677 47609677 A G het . 4 +intronic LSS chr21 47613342 47613342 T G het . 5 +exonic LSS chr21 47614469 47614469 A C het . 15 +intronic LSS chr21 47616071 47616071 G C het . 4 +intronic LSS chr21 47616080 47616080 G A het . 5 +intronic LSS chr21 47630550 47630550 C T het . 9 +intronic LSS chr21 47633789 47633789 C G het . 7 +exonic LSS chr21 47635627 47635627 C G het . 4 +intronic LSS chr21 47635713 47635713 G A het . 4 +intronic LSS chr21 47639492 47639492 C G het . 4 +intronic LSS chr21 47641700 47641700 G T het . 5 +intronic LSS chr21 47647619 47647620 AA - het . 5 +ncRNA_intronic MCM3AP-AS1 chr21 47650215 47650215 T - het . 2 +ncRNA_intronic MCM3AP-AS1 chr21 47654388 47654388 C G het . 2 +ncRNA_intronic MCM3AP-AS1 chr21 47656712 47656712 T C het . 8 +ncRNA_intronic MCM3AP-AS1 chr21 47657984 47657984 G C het . 3 +ncRNA_intronic MCM3AP-AS1 chr21 47659391 47659391 G T het . 2 +ncRNA_exonic MCM3AP-AS1 chr21 47669648 47669648 T A het . 7 +ncRNA_exonic MCM3AP-AS1 chr21 47671305 47671305 A G het . 3 +intronic MCM3AP chr21 47671690 47671690 A G het . 16 +intronic MCM3AP chr21 47674275 47674275 G A het . 12 +exonic MCM3AP chr21 47676711 47676711 G A het . 4 +intronic MCM3AP chr21 47676934 47676934 T C het . 7 +intronic MCM3AP chr21 47678774 47678774 A G het . 6 +intronic MCM3AP chr21 47681127 47681127 T C het . 3 +exonic MCM3AP chr21 47685939 47685939 A G het . 13 +exonic MCM3AP chr21 47703649 47703649 G A het . 33 +exonic MCM3AP chr21 47704896 47704896 G A het . 13 +UTR5 MCM3AP(NM_003906:c.-37A>G) chr21 47705237 47705237 T C het . 9 +splicing YBEY(NM_001314022:exon2:c.210+2->A,NM_001314026:exon2:c.210+2->A,NM_001314025:exon2:c.210+2->A,NM_058181:exon2:c.210+2->A,NM_001006114:exon2:c.210+2->A) chr21 47707039 47707039 - A het . 7 +intronic YBEY chr21 47707152 47707152 C G het . 11 +intronic YBEY chr21 47711229 47711229 A G het . 25 +intronic YBEY chr21 47716312 47716312 A T het . 1 +intronic YBEY chr21 47716547 47716547 C G het . 2 +intronic YBEY chr21 47716552 47716552 G A het . 2 +UTR3 C21orf58(NM_001286477:c.*844_*845insA,NM_001286463:c.*844_*845insA,NM_001286476:c.*561_*562insA,NM_058180:c.*844_*845insA) chr21 47721068 47721068 - T het . 2 +intronic C21orf58 chr21 47722391 47722391 A G het . 6 +intronic C21orf58 chr21 47722578 47722578 G C het . 6 +UTR5 PCNT(NM_006031:c.-105del-) chr21 47744038 47744038 G - het . 8 +intronic PCNT chr21 47762374 47762374 C T het . 2 +intronic PCNT chr21 47763374 47763374 - G het . 2 +intronic PCNT chr21 47766139 47766139 T C het . 8 +intronic PCNT chr21 47766650 47766650 G A het . 13 +exonic PCNT chr21 47777063 47777063 G A het . 25 +intronic PCNT chr21 47777222 47777222 A G het . 5 +exonic PCNT chr21 47783796 47783796 T C het . 3 +intronic PCNT chr21 47786449 47786449 T A het . 16 +intronic PCNT chr21 47786494 47786494 C T het . 30 +exonic PCNT chr21 47786817 47786817 C G het . 30 +exonic PCNT chr21 47787002 47787002 T C het . 16 +exonic PCNT chr21 47811272 47811272 C T het . 9 +intronic PCNT chr21 47818298 47818298 T C het . 5 +intronic PCNT chr21 47822052 47822052 - C het . 4 +intronic PCNT chr21 47847852 47847852 T C het . 4 +intronic PCNT chr21 47850405 47850405 C T het . 19 +exonic PCNT chr21 47850484 47850484 G C het . 33 +intronic PCNT chr21 47851424 47851424 G A het . 12 +exonic PCNT chr21 47851753 47851753 A G het . 31 +exonic PCNT chr21 47852085 47852085 G A het . 28 +intronic PCNT chr21 47852151 47852151 - G het . 15 +intronic PCNT chr21 47856106 47856106 C A het . 9 +intronic PCNT chr21 47858272 47858272 T C het . 8 +intronic PCNT chr21 47860217 47860217 C T het . 10 +intronic PCNT chr21 47860641 47860641 - C het . 11 +intronic PCNT chr21 47860764 47860764 T C het . 33 +intronic PCNT chr21 47862188 47862188 T C het . 8 +intronic PCNT chr21 47862220 47862220 C T het . 7 +intronic PCNT chr21 47862624 47862624 A G het . 14 +intronic PCNT chr21 47864456 47864456 G A het . 7 +intronic PCNT chr21 47864561 47864564 TTTT - het . 4 +intronic PCNT chr21 47864968 47864968 - T het . 6 +intergenic PCNT(dist=4196),DIP2A(dist=8984) chr21 47869878 47869878 T A het . 2 +intronic DIP2A chr21 47904569 47904569 G A het . 16 +intronic DIP2A chr21 47917048 47917048 T - het . 3 +intronic DIP2A chr21 47931245 47931245 A G het . 6 +intronic DIP2A chr21 47936295 47936295 T G het . 2 +intronic DIP2A chr21 47936880 47936880 T C het . 5 +intronic DIP2A chr21 47944705 47944705 G T het . 3 +intronic DIP2A chr21 47954727 47954727 G A het . 2 +intronic DIP2A chr21 47961634 47961634 T C het . 14 +exonic DIP2A chr21 47969793 47969793 C T het . 11 +intronic DIP2A chr21 47971539 47971539 G A het . 9 +intronic DIP2A chr21 47978321 47978321 - C het . 20 +intronic DIP2A chr21 47978421 47978421 G A het . 8 +intronic DIP2A chr21 47983657 47983657 G A het . 5 +intronic DIP2A chr21 47984917 47984917 G A het . 2 +intronic DIP2A chr21 47986633 47986633 C A het . 6 +intergenic DIP2A(dist=13145),S100B(dist=14247) chr21 48004284 48004284 G A het . 2 +intergenic DIP2A(dist=23436),S100B(dist=3956) chr21 48014575 48014575 G A het . 2 +exonic S100B chr21 48022230 48022230 C G het . 17 +intronic S100B chr21 48022375 48022375 C A het . 9 +intronic S100B chr21 48022932 48022932 C A het . 1 +intergenic S100B(dist=11850),PRMT2(dist=18622) chr21 48036885 48036885 A C het . 2 +exonic PRMT2 chr21 48063476 48063476 C G het . 10 +intergenic PRMT2(dist=12574),NONE(dist=NONE) chr21 48097610 48097610 T C het . 2 +intergenic NONE(dist=NONE),DUXAP8(dist=36374) chr22 16114155 16114155 A C het . 6 +intergenic POTEH(dist=58454),OR11H1(dist=102433) chr22 16346391 16346391 G A het . 15 +intergenic POTEH(dist=61495),OR11H1(dist=99392) chr22 16349432 16349432 G A het . 13 +intergenic POTEH(dist=62386),OR11H1(dist=98501) chr22 16350323 16350323 T C het . 17 +intergenic POTEH(dist=62412),OR11H1(dist=98475) chr22 16350349 16350349 G C het . 20 +intergenic POTEH(dist=126239),OR11H1(dist=34648) chr22 16414176 16414176 G C het . 9 +intergenic OR11H1(dist=404144),CCT8L2(dist=217700) chr22 16853948 16853948 T A het . 2 +intergenic OR11H1(dist=418560),CCT8L2(dist=203284) chr22 16868364 16868364 G A het . 5 +intergenic OR11H1(dist=418623),CCT8L2(dist=203221) chr22 16868427 16868427 A C het . 12 +intergenic OR11H1(dist=418629),CCT8L2(dist=203215) chr22 16868433 16868433 G A het . 11 +intergenic OR11H1(dist=418664),CCT8L2(dist=203180) chr22 16868468 16868468 C T het . 12 +intergenic OR11H1(dist=421333),CCT8L2(dist=200511) chr22 16871137 16871137 A G het . 9 +intergenic OR11H1(dist=421659),CCT8L2(dist=200185) chr22 16871463 16871463 G A het . 6 +intergenic OR11H1(dist=468510),CCT8L2(dist=153334) chr22 16918314 16918314 G A het . 2 +intergenic OR11H1(dist=468531),CCT8L2(dist=153313) chr22 16918335 16918335 C T het . 2 +intergenic OR11H1(dist=468602),CCT8L2(dist=153242) chr22 16918406 16918406 G T het . 4 +intergenic OR11H1(dist=499993),CCT8L2(dist=121851) chr22 16949797 16949797 C A het . 2 +intergenic OR11H1(dist=503756),CCT8L2(dist=118088) chr22 16953560 16953560 T C het . 5 +intergenic OR11H1(dist=503923),CCT8L2(dist=117921) chr22 16953727 16953727 A G het . 7 +intergenic OR11H1(dist=605765),CCT8L2(dist=16079) chr22 17055569 17055569 T G het . 3 +exonic CCT8L2 chr22 17073066 17073066 A G het . 9 +intergenic CCT8L2(dist=2573),TPTEP1(dist=6528) chr22 17076273 17076273 G A het . 30 +intergenic CCT8L2(dist=2699),TPTEP1(dist=6402) chr22 17076399 17076399 T C het . 12 +ncRNA_intronic TPTEP1 chr22 17119450 17119450 G A het . 13 +ncRNA_intronic TPTEP1 chr22 17127617 17127617 A G het . 6 +ncRNA_exonic ANKRD62P1-PARP4P3 chr22 17156061 17156061 A G het . 9 +ncRNA_exonic ANKRD62P1-PARP4P3 chr22 17156280 17156280 A G het . 4 +intergenic LINC01665(dist=5374),XKR3(dist=29604) chr22 17234702 17234702 G T het . 1 +intronic XKR3 chr22 17300320 17300320 A G het . 2 +upstream XKR3(dist=687) chr22 17303276 17303276 A T het . 2 +upstream XKR3(dist=693) chr22 17303282 17303283 AT - het . 2 +ncRNA_exonic HSFY1P1 chr22 17308827 17308827 T C het . 3 +intergenic HSFY1P1(dist=28462),GAB4(dist=104140) chr22 17338687 17338687 C G het . 11 +intergenic HSFY1P1(dist=28482),GAB4(dist=104120) chr22 17338707 17338707 G T het . 15 +intergenic HSFY1P1(dist=28778),GAB4(dist=103824) chr22 17339003 17339003 G A het . 16 +intergenic HSFY1P1(dist=28815),GAB4(dist=103786) chr22 17339040 17339041 TG CA het . 5 +intergenic HSFY1P1(dist=28843),GAB4(dist=103759) chr22 17339068 17339068 T C het . 7 +intergenic HSFY1P1(dist=28904),GAB4(dist=103698) chr22 17339129 17339129 C G het . 14 +intergenic HSFY1P1(dist=29017),GAB4(dist=103585) chr22 17339242 17339242 G A het . 10 +intergenic HSFY1P1(dist=29179),GAB4(dist=103423) chr22 17339404 17339404 G A het . 18 +intergenic HSFY1P1(dist=29387),GAB4(dist=103215) chr22 17339612 17339612 T C het . 5 +intergenic HSFY1P1(dist=29449),GAB4(dist=103153) chr22 17339674 17339674 T C het . 7 +intergenic HSFY1P1(dist=29527),GAB4(dist=103075) chr22 17339752 17339752 G A het . 11 +intergenic HSFY1P1(dist=29619),GAB4(dist=102983) chr22 17339844 17339844 T A het . 9 +intergenic HSFY1P1(dist=29852),GAB4(dist=102750) chr22 17340077 17340077 A G het . 7 +intergenic HSFY1P1(dist=30414),GAB4(dist=102188) chr22 17340639 17340639 C T het . 10 +intergenic HSFY1P1(dist=30444),GAB4(dist=102158) chr22 17340669 17340669 C T het . 11 +intergenic HSFY1P1(dist=30681),GAB4(dist=101921) chr22 17340906 17340906 T C het . 3 +intergenic HSFY1P1(dist=47655),GAB4(dist=84947) chr22 17357880 17357880 G T het . 3 +intergenic HSFY1P1(dist=85385),GAB4(dist=47217) chr22 17395610 17395610 G A het . 4 +intergenic HSFY1P1(dist=104160),GAB4(dist=28442) chr22 17414385 17414385 T C het . 2 +intergenic HSFY1P1(dist=104169),GAB4(dist=28433) chr22 17414394 17414394 T C het . 2 +intergenic HSFY1P1(dist=104415),GAB4(dist=28187) chr22 17414640 17414640 G A het . 12 +intergenic HSFY1P1(dist=104667),GAB4(dist=27935) chr22 17414892 17414892 G T het . 8 +exonic GAB4 chr22 17446991 17446991 C T het . 10 +intronic GAB4 chr22 17449076 17449076 C G het . 2 +exonic GAB4 chr22 17469026 17469026 G A het . 8 +exonic GAB4 chr22 17469049 17469049 C A het . 8 +intronic GAB4 chr22 17488727 17488727 A C het . 2 +intronic GAB4 chr22 17488823 17488823 - G het . 5 +ncRNA_intronic CECR7 chr22 17521548 17521548 G A het . 2 +ncRNA_intronic CECR7 chr22 17523706 17523706 - T het . 2 +ncRNA_intronic CECR7 chr22 17528923 17528923 A C het . 3 +ncRNA_intronic CECR7 chr22 17532554 17532554 A G het . 2 +ncRNA_intronic CECR7 chr22 17535247 17535247 C T het . 2 +ncRNA_intronic CECR7 chr22 17535254 17535254 T C het . 2 +ncRNA_intronic CECR7 chr22 17535448 17535448 A G het . 2 +intergenic CECR7(dist=9458),IL17RA(dist=15431) chr22 17550418 17550418 G A het . 3 +intronic IL17RA chr22 17566206 17566206 G T het . 9 +intronic IL17RA chr22 17566229 17566229 T A het . 7 +intronic IL17RA chr22 17571355 17571355 G A het . 2 +intronic IL17RA chr22 17582788 17582788 C T het . 23 +intronic IL17RA chr22 17585465 17585465 G T het . 8 +intronic IL17RA chr22 17586471 17586471 C T het . 39 +intronic IL17RA chr22 17586583 17586583 C G het . 12 +intronic IL17RA chr22 17586610 17586610 T - het . 7 +intronic IL17RA chr22 17586614 17586614 G C het . 6 +intronic IL17RA chr22 17586631 17586631 G A het . 5 +intronic IL17RA chr22 17586716 17586719 TCAC - het . 14 +exonic IL17RA chr22 17589246 17589246 G A het . 7 +UTR3 IL17RA(NM_014339:c.*2975G>A,NM_001289905:c.*2975G>A) chr22 17593685 17593685 G A het . 2 +exonic TMEM121B chr22 17600597 17600597 C A het . 26 +exonic TMEM121B chr22 17601466 17601466 T C het . 4 +ncRNA_exonic LINC01664 chr22 17602787 17602787 C T het . 7 +ncRNA_exonic LINC01664 chr22 17602839 17602839 G A het . 21 +ncRNA_intronic LINC01664 chr22 17611179 17611179 C A het . 5 +ncRNA_intronic LINC01664 chr22 17611603 17611603 T C het . 1 +intronic HDHD5 chr22 17619716 17619716 A G het . 3 +intronic HDHD5 chr22 17623837 17623837 A G het . 2 +intronic HDHD5 chr22 17623880 17623880 - C het . 4 +intronic HDHD5 chr22 17629544 17629544 - A het . 3 +intronic HDHD5 chr22 17630389 17630389 G C het . 8 +exonic HDHD5 chr22 17630486 17630486 C A het . 16 +intronic ADA2 chr22 17665413 17665413 T C het . 2 +intronic ADA2 chr22 17668568 17668568 A G het . 3 +intronic ADA2 chr22 17669151 17669151 C T het . 4 +intronic ADA2 chr22 17672494 17672494 A C het . 4 +intronic ADA2 chr22 17673720 17673720 A - het . 3 +UTR5 ADA2(NM_177405:c.-51T>G) chr22 17680519 17680519 A C het . 17 +UTR5 ADA2(NM_177405:c.-117_-119delCCT) chr22 17680585 17680587 AGG - het . 8 +intronic ADA2 chr22 17684312 17684312 T A het . 2 +intronic ADA2 chr22 17684355 17684355 A G het . 4 +exonic ADA2 chr22 17690409 17690409 G A het . 22 +exonic ADA2 chr22 17690430 17690430 C G het . 24 +intronic ADA2 chr22 17694949 17694949 A G het . 5 +intronic ADA2 chr22 17698173 17698173 A G het . 2 +intergenic ADA2(dist=22824),CECR3(dist=12182) chr22 17725568 17725568 A - het . 2 +intergenic ADA2(dist=23877),CECR3(dist=11129) chr22 17726621 17726621 T - het . 2 +ncRNA_intronic CECR3 chr22 17740872 17740879 AAAAAGAA - het . 3 +intergenic CECR3(dist=37760),CECR2(dist=55456) chr22 17785383 17785383 C T het . 2 +intergenic CECR3(dist=55158),CECR2(dist=38058) chr22 17802781 17802781 A G het . 2 +intergenic CECR3(dist=58713),CECR2(dist=34503) chr22 17806336 17806336 C T het . 2 +intronic CECR2 chr22 17889097 17889097 C T het . 3 +intronic CECR2 chr22 17956264 17956264 A G het . 12 +intronic CECR2 chr22 17956887 17956887 T C het . 2 +intronic CECR2 chr22 17963607 17963607 A G het . 3 +intronic CECR2 chr22 17979626 17979626 C T het . 26 +intronic CECR2 chr22 17990817 17990817 C A het . 7 +intronic CECR2 chr22 17997552 17997552 T C het . 7 +intronic CECR2 chr22 17997569 17997569 G T het . 6 +intronic CECR2 chr22 17997619 17997619 T G het . 7 +intronic CECR2 chr22 18007943 18007943 G A het . 2 +intronic CECR2 chr22 18011380 18011380 A G het . 3 +intronic CECR2 chr22 18018940 18018940 T C het . 7 +exonic CECR2 chr22 18021604 18021604 C T het . 8 +intronic CECR2 chr22 18031908 18031908 A C het . 5 +intronic CECR2 chr22 18032460 18032474 TTTTTTTTTTTTTTT - het . 10 +intronic SLC25A18 chr22 18052479 18052479 G - het . 2 +intronic SLC25A18 chr22 18053139 18053139 C T het . 2 +intronic SLC25A18 chr22 18057362 18057362 C T het . 2 +intronic SLC25A18 chr22 18061837 18061837 - TTTG het . 6 +intronic ATP6V1E1 chr22 18082669 18082669 A G het . 9 +intronic ATP6V1E1 chr22 18082708 18082708 A C het . 10 +intronic ATP6V1E1 chr22 18083197 18083197 T C het . 2 +intronic ATP6V1E1 chr22 18084001 18084001 T G het . 6 +intronic ATP6V1E1 chr22 18084033 18084033 C T het . 3 +intronic ATP6V1E1 chr22 18095838 18095838 A G het . 5 +intronic ATP6V1E1 chr22 18095901 18095901 T C het . 10 +intronic ATP6V1E1 chr22 18098801 18098804 AAAC - het . 5 +intronic ATP6V1E1 chr22 18098811 18098811 A G het . 5 +intronic ATP6V1E1 chr22 18101834 18101834 C T het . 7 +intronic ATP6V1E1 chr22 18102060 18102060 A - het . 7 +intronic ATP6V1E1 chr22 18102393 18102393 C T het . 7 +UTR5 ATP6V1E1(NM_001696:c.-30A>G,NM_001039366:c.-30A>G,NM_001039367:c.-30A>G) chr22 18111431 18111431 T C het . 15 +intronic BCL2L13 chr22 18122486 18122486 G A het . 2 +intronic BCL2L13 chr22 18135912 18135912 A G het . 2 +intronic BCL2L13 chr22 18165899 18165899 A - het . 7 +intronic BCL2L13 chr22 18178859 18178859 C T het . 12 +intronic BCL2L13 chr22 18179100 18179100 T C het . 6 +intronic BCL2L13 chr22 18202129 18202129 A G het . 3 +exonic BCL2L13 chr22 18210068 18210068 T C het . 23 +intronic BID chr22 18218441 18218441 A C het . 8 +intronic BID chr22 18218464 18218464 T C het . 9 +intronic BID chr22 18218475 18218475 C G het . 8 +intronic BID chr22 18222869 18222881 GCCACGCTCAACT - het . 31 +intronic BID chr22 18226521 18226521 C T het . 2 +intergenic LINC00528(dist=5650),MICAL3(dist=2519) chr22 18267897 18267897 C A het . 2 +exonic MICAL3 chr22 18273978 18273978 G A het . 11 +intronic MICAL3 chr22 18274092 18274092 G C het . 7 +intronic MICAL3 chr22 18291791 18291791 C G het . 2 +exonic MICAL3 chr22 18300240 18300240 T C het . 31 +exonic MICAL3 chr22 18300594 18300594 G A het . 6 +exonic MICAL3 chr22 18300879 18300879 G A het . 37 +intronic MICAL3 chr22 18302883 18302883 T C het . 3 +intronic MICAL3 chr22 18304392 18304392 G T het . 2 +intronic MICAL3 chr22 18317095 18317095 T C het . 6 +UTR3 MICAL3(NM_001122731:c.*74G>A) chr22 18317142 18317142 C T het . 5 +intronic MICAL3 chr22 18326754 18326754 G A het . 3 +exonic MICAL3 chr22 18354766 18354766 C T het . 10 +intronic MICAL3 chr22 18369783 18369788 GAAAAT - het . 4 +intronic MICAL3 chr22 18370066 18370066 C A het . 9 +intronic MICAL3 chr22 18372020 18372020 A G het . 9 +intronic MICAL3 chr22 18378002 18378002 T C het . 5 +intronic MICAL3 chr22 18379160 18379160 T A het . 5 +intronic MICAL3 chr22 18431064 18431064 G A het . 2 +intronic MICAL3 chr22 18487899 18487899 C G het . 2 +intronic MICAL3 chr22 18498155 18498155 G T het . 6 +intronic MICAL3 chr22 18502467 18502467 - A het . 5 +ncRNA_intronic LINC01634 chr22 18512758 18512758 T G het . 3 +intergenic LINC01634(dist=25763),PEX26(dist=14189) chr22 18546497 18546497 A C het . 2 +intronic PEX26 chr22 18562888 18562888 C T het . 16 +UTR3 PEX26(NM_001199319:c.*167G>A,NM_017929:c.*167G>A,NM_001127649:c.*167G>A) chr22 18571008 18571008 G A het . 4 +UTR3 PEX26(NM_001199319:c.*1530_*1531insTTGG,NM_017929:c.*1530_*1531insTTGG,NM_001127649:c.*1530_*1531insTTGG) chr22 18572371 18572371 - TTGG het . 4 +intronic USP18 chr22 18642865 18642865 G A het . 8 +intronic USP18 chr22 18651163 18651164 CC - het . 2 +intronic USP18 chr22 18651172 18651172 C T het . 2 +intronic USP18 chr22 18655860 18655860 G A het . 4 +ncRNA_exonic LINC02592 chr22 18669151 18669151 A G het . 4 +ncRNA_intronic LOC102725072 chr22 18842473 18842473 G - het . 2 +ncRNA_intronic LINC01663 chr22 18878437 18878437 A C het . 9 +ncRNA_intronic LINC01663 chr22 18878442 18878442 C T het . 10 +ncRNA_intronic LINC01663 chr22 18878454 18878454 A G het . 13 +ncRNA_intronic LINC01663 chr22 18878459 18878459 C T het . 14 +ncRNA_intronic LINC01663 chr22 18878460 18878460 T A het . 14 +ncRNA_intronic LINC01663 chr22 18878477 18878477 A C het . 15 +ncRNA_intronic LINC01663 chr22 18878482 18878482 G A het . 12 +ncRNA_intronic LINC01663 chr22 18878489 18878489 C G het . 12 +ncRNA_intronic LINC01663 chr22 18878510 18878510 A G het . 13 +ncRNA_intronic LINC01663 chr22 18878517 18878517 T C het . 9 +ncRNA_intronic LINC01663 chr22 18878530 18878530 T C het . 6 +ncRNA_intronic LINC01663 chr22 18878538 18878538 C G het . 6 +ncRNA_intronic LINC01663 chr22 18878547 18878547 A G het . 5 +ncRNA_intronic LINC01663 chr22 18878549 18878549 T G het . 5 +ncRNA_intronic LINC01663 chr22 18878575 18878575 T C het . 2 +ncRNA_intronic LINC01663 chr22 18880169 18880169 A G het . 3 +ncRNA_intronic LINC01663 chr22 18880179 18880179 G T het . 2 +ncRNA_intronic LINC01663 chr22 18880282 18880282 G A het . 15 +ncRNA_intronic LINC01663 chr22 18880461 18880461 T G het . 3 +intronic DGCR6 chr22 18894002 18894010 GCGGGCGGG - het . 9 +intronic DGCR6 chr22 18896301 18896301 G T het . 6 +intronic DGCR6 chr22 18899016 18899016 G A het . 3 +UTR3 PRODH(NM_001195226:c.*19T>C,NM_016335:c.*19T>C) chr22 18900669 18900669 A G het . 2 +exonic PRODH chr22 18900750 18900750 G A het . 8 +exonic PRODH chr22 18901004 18901004 C T het . 14 +intronic PRODH chr22 18901090 18901090 A G het . 4 +exonic PRODH chr22 18905978 18905978 G A het . 13 +intronic PRODH chr22 18907124 18907124 G A het . 7 +intronic PRODH chr22 18907405 18907405 G T het . 3 +intronic PRODH chr22 18910257 18910257 C T het . 3 +intronic PRODH chr22 18910285 18910285 C - het . 4 +intronic PRODH chr22 18910301 18910301 A G het . 9 +intronic PRODH chr22 18910307 18910307 G A het . 10 +intronic PRODH chr22 18910451 18910451 A - het . 31 +intronic PRODH chr22 18910545 18910545 C T het . 19 +intronic PRODH chr22 18910756 18910756 C G het . 16 +exonic PRODH chr22 18912678 18912678 A G het . 25 +intronic PRODH chr22 18918430 18918430 T C het . 7 +intronic PRODH chr22 18918760 18918760 T C het . 16 +intronic PRODH chr22 18920516 18920516 C T het . 2 +intronic PRODH chr22 18923524 18923524 G A het . 4 +exonic PRODH chr22 18923713 18923713 G A het . 3 +intergenic PRODH(dist=12927),DGCR5(dist=21018) chr22 18936993 18936993 A G het . 8 +intergenic PRODH(dist=13447),DGCR5(dist=20498) chr22 18937513 18937513 T A het . 3 +ncRNA_intronic DGCR5 chr22 18984886 18984886 A G het . 13 +ncRNA_intronic DGCR5 chr22 18984906 18984906 G T het . 13 +ncRNA_intronic DGCR5 chr22 18993128 18993128 C T het . 2 +ncRNA_intronic DGCR5 chr22 18995430 18995430 T G het . 2 +ncRNA_exonic DGCR5 chr22 19002009 19002009 G T het . 16 +ncRNA_intronic DGCR5 chr22 19002159 19002159 C T het . 5 +exonic DGCR2 chr22 19026613 19026613 A G het . 12 +ncRNA_exonic DGCR11 chr22 19034240 19034240 A G het . 3 +intronic DGCR2 chr22 19044079 19044079 - CAC het . 3 +intronic DGCR2 chr22 19048413 19048413 A G het . 10 +intronic DGCR2 chr22 19048436 19048436 G A het . 6 +intronic DGCR2 chr22 19048449 19048449 G A het . 4 +intronic DGCR2 chr22 19050878 19050878 A G het . 5 +intronic DGCR2 chr22 19056979 19056979 C T het . 2 +intronic DGCR2 chr22 19064520 19064520 A G het . 2 +intronic DGCR2 chr22 19076797 19076797 C A het . 3 +intronic DGCR2 chr22 19077049 19077049 C T het . 3 +intronic DGCR2 chr22 19086904 19086904 C G het . 2 +intronic DGCR2 chr22 19088607 19088607 C G het . 3 +intronic DGCR2 chr22 19100955 19100955 C A het . 2 +intronic DGCR2 chr22 19102582 19102582 G C het . 2 +intronic DGCR2 chr22 19109609 19109609 A C het . 2 +UTR5 DGCR2(NM_001184781:c.-93T>C,NM_001173534:c.-93T>C,NM_001173533:c.-93T>C,NM_005137:c.-93T>C) chr22 19109812 19109812 A G het . 2 +UTR5 DGCR2(NM_001184781:c.-107C>A,NM_001173534:c.-107C>A,NM_001173533:c.-107C>A,NM_005137:c.-107C>A) chr22 19109826 19109826 G T het . 1 +intergenic DGCR2(dist=2394),ESS2(dist=5431) chr22 19112361 19112361 G - het . 5 +intergenic DGCR2(dist=2518),ESS2(dist=5307) chr22 19112485 19112485 A G het . 9 +intergenic DGCR2(dist=3510),ESS2(dist=4315) chr22 19113477 19113477 T C het . 2 +intergenic DGCR2(dist=4573),ESS2(dist=3252) chr22 19114540 19114540 G A het . 2 +exonic TSSK2 chr22 19119545 19119545 C T het . 12 +exonic TSSK2 chr22 19119686 19119686 C T het . 13 +exonic TSSK2 chr22 19119751 19119751 C T het . 8 +exonic TSSK2 chr22 19119938 19119938 G A het . 10 +exonic ESS2 chr22 19122665 19122665 C T het . 7 +intergenic GSC2(dist=9024),LINC01311(dist=12399) chr22 19146820 19146820 T - het . 2 +intergenic GSC2(dist=9039),LINC01311(dist=12384) chr22 19146835 19146835 A G het . 2 +intergenic GSC2(dist=13050),LINC01311(dist=8373) chr22 19150846 19150846 T A het . 3 +intergenic GSC2(dist=15018),LINC01311(dist=6405) chr22 19152814 19152814 A C het . 1 +intergenic GSC2(dist=15028),LINC01311(dist=6395) chr22 19152824 19152824 G A het . 1 +intergenic GSC2(dist=15048),LINC01311(dist=6375) chr22 19152844 19152844 C T het . 1 +UTR3 SLC25A1(NM_001256534:c.*65_*66insAT,NM_005984:c.*65_*66insAT,NM_001287387:c.*65_*66insAT) chr22 19163577 19163577 - AT het . 5 +intronic CLTCL1 chr22 19172006 19172006 T C het . 16 +exonic CLTCL1 chr22 19184095 19184095 T C het . 20 +intronic CLTCL1 chr22 19187375 19187375 G A het . 3 +intronic CLTCL1 chr22 19187450 19187451 GC AG het . 2 +exonic CLTCL1 chr22 19189003 19189003 - C het . 6 +exonic CLTCL1 chr22 19196502 19196502 G A het . 12 +exonic CLTCL1 chr22 19197896 19197896 T C het . 7 +intronic CLTCL1 chr22 19211665 19211665 C T het . 4 +intronic CLTCL1 chr22 19217613 19217613 C T het . 2 +intronic CLTCL1 chr22 19217617 19217617 C T het . 2 +intronic CLTCL1 chr22 19220648 19220648 G T het . 9 +exonic CLTCL1 chr22 19223229 19223229 T C het . 6 +intergenic CLTCL1(dist=9517),HIRA(dist=29468) chr22 19288756 19288756 C A het . 2 +intergenic CLTCL1(dist=16103),HIRA(dist=22882) chr22 19295342 19295342 C T het . 2 +intergenic CLTCL1(dist=20458),HIRA(dist=18527) chr22 19299697 19299697 A T het . 2 +intergenic CLTCL1(dist=20464),HIRA(dist=18521) chr22 19299703 19299703 A G het . 2 +intronic HIRA chr22 19322510 19322510 T C het . 2 +intronic HIRA chr22 19336597 19336597 A G het . 2 +exonic HIRA chr22 19343374 19343374 C A het . 21 +intronic HIRA chr22 19349590 19349590 G C het . 3 +intronic HIRA chr22 19350362 19350362 T G het . 1 +intronic HIRA chr22 19398136 19398136 C T het . 12 +intronic UFD1 chr22 19447182 19447182 T C het . 2 +intronic UFD1 chr22 19447369 19447369 C T het . 2 +intronic UFD1 chr22 19455376 19455376 C T het . 7 +intronic UFD1 chr22 19455582 19455582 C T het . 5 +intronic UFD1 chr22 19457755 19457755 A G het . 2 +intronic UFD1 chr22 19458224 19458224 C T het . 14 +intronic UFD1 chr22 19459157 19459157 A G het . 2 +intronic UFD1 chr22 19462466 19462466 C G het . 2 +upstream CDC45,UFD1(dist=592) chr22 19466757 19466757 - G het . 8 +intronic CDC45 chr22 19467652 19467652 T C het . 16 +intronic CDC45 chr22 19468655 19468655 C T het . 8 +intronic CDC45 chr22 19471609 19471609 A G het . 2 +intronic CDC45 chr22 19486600 19486600 C T het . 11 +intronic CDC45 chr22 19495967 19495967 G A het . 9 +intronic CDC45 chr22 19496423 19496423 T C het . 2 +intronic CDC45 chr22 19504318 19504318 G A het . 10 +intronic CDC45 chr22 19504470 19504470 T C het . 7 +intronic CDC45 chr22 19506456 19506456 G T het . 9 +intronic CDC45 chr22 19506476 19506476 C T het . 8 +intergenic CLDN5(dist=5219),LINC00895(dist=35574) chr22 19518079 19518079 T C het . 2 +intergenic CLDN5(dist=12176),LINC00895(dist=28617) chr22 19525036 19525036 - T het . 2 +intergenic LINC00895(dist=31989),SEPT5(dist=115636) chr22 19586351 19586351 T C het . 1 +intergenic LINC00895(dist=67443),SEPT5(dist=80182) chr22 19621805 19621805 T G het . 2 +intergenic LINC00895(dist=87643),SEPT5(dist=59982) chr22 19642005 19642005 G T het . 2 +UTR5 TBX1(NM_005992:c.-85G>C,NM_080647:c.-85G>C,NM_080646:c.-85G>C) chr22 19747082 19747082 G C het . 12 +intronic TBX1 chr22 19753209 19753209 C A het . 6 +intronic GNB1L chr22 19780642 19780642 C A het . 6 +intronic GNB1L chr22 19794366 19794366 C A het . 6 +exonic TXNRD2 chr22 19868218 19868218 A G het . 12 +intronic TXNRD2 chr22 19894023 19894023 T G het . 2 +intronic TXNRD2 chr22 19898837 19898837 A G het . 25 +intronic TXNRD2 chr22 19898886 19898886 C T het . 29 +intronic TXNRD2 chr22 19902896 19902896 C T het . 6 +intronic TXNRD2 chr22 19903419 19903419 C A het . 26 +intronic TXNRD2 chr22 19905802 19905802 G A het . 8 +intronic TXNRD2 chr22 19906306 19906306 C G het . 5 +exonic TXNRD2 chr22 19907099 19907099 C A het . 25 +exonic TXNRD2 chr22 19907118 19907118 G A het . 22 +intronic TXNRD2 chr22 19907192 19907192 A G het . 13 +intronic TXNRD2 chr22 19912015 19912015 T C het . 3 +intronic TXNRD2 chr22 19920949 19920949 G A het . 11 +UTR5 TXNRD2(NM_001352303:c.-40A>G) chr22 19921003 19921003 T C het . 9 +exonic COMT chr22 19950235 19950235 C T het . 12 +exonic COMT chr22 19951271 19951271 G A het . 30 +intronic COMT chr22 19953176 19953176 C T het . 2 +intronic COMT chr22 19954917 19954917 T - het . 8 +intronic COMT chr22 19956039 19956039 A C het . 12 +UTR3 COMT(NM_001362828:c.*3_*4insC,NM_000754:c.*3_*4insC,NM_001135161:c.*3_*4insC,NM_001135162:c.*3_*4insC,NM_007310:c.*3_*4insC) chr22 19956262 19956262 - C het . 12 +intronic ARVCF chr22 19958669 19958669 G A het . 5 +intronic ARVCF chr22 19959366 19959366 G A het . 5 +exonic ARVCF chr22 19959473 19959473 C T het . 7 +intronic ARVCF chr22 19959955 19959955 A G het . 7 +intronic ARVCF chr22 19960606 19960606 G C het . 3 +exonic ARVCF chr22 19965028 19965028 C T het . 4 +intronic ARVCF chr22 19974571 19974571 C - het . 5 +intronic TANGO2 chr22 20043630 20043630 C T het . 21 +intronic TRMT2A chr22 20100596 20100596 T C het . 7 +intergenic CCDC188(dist=22899),LOC284865(dist=25918) chr22 20160330 20160334 AAATT - het . 2 +intergenic CCDC188(dist=31936),LOC284865(dist=16885) chr22 20169367 20169367 G T het . 2 +ncRNA_intronic LOC284865 chr22 20190760 20190760 G C het . 2 +intergenic LINC00896(dist=18723),RTN4R(dist=14155) chr22 20214783 20214783 G A het . 2 +exonic RTN4R chr22 20229377 20229377 T C het . 15 +intronic DGCR6L chr22 20307158 20307158 G T het . 14 +intergenic DGCR6L(dist=3797),LOC101927859(dist=17095) chr22 20311425 20311425 G A het . 2 +intergenic DGCR6L(dist=3825),LOC101927859(dist=17067) chr22 20311453 20311453 C T het . 3 +ncRNA_exonic FAM230A chr22 20342137 20342137 G A het . 3 +ncRNA_exonic FAM230A chr22 20342166 20342166 T C het . 2 +ncRNA_intronic LINC01660,LOC101927859 chr22 20656505 20656505 A T het . 4 +ncRNA_intronic LOC101927859 chr22 20679374 20679374 G - het . 3 +intergenic LOC101927859(dist=7192),ZNF74(dist=34429) chr22 20713976 20713976 G A het . 2 +intergenic LOC101927859(dist=32275),ZNF74(dist=9346) chr22 20739059 20739059 G C het . 24 +intronic ZNF74 chr22 20751255 20751255 C T het . 3 +intronic ZNF74 chr22 20753771 20753771 G T het . 7 +intronic ZNF74 chr22 20753795 20753795 T G het . 8 +intronic ZNF74 chr22 20753862 20753863 TT - het . 8 +intronic ZNF74 chr22 20755098 20755098 A G het . 9 +exonic ZNF74 chr22 20760766 20760766 C A het . 7 +intergenic ZNF74(dist=4817),SCARF2(dist=11302) chr22 20767570 20767572 AAG - het . 3 +intergenic ZNF74(dist=13099),SCARF2(dist=3022) chr22 20775852 20775852 C T het . 2 +exonic SCARF2 chr22 20780091 20780091 C G het . 7 +exonic SCARF2 chr22 20780097 20780097 G C het . 7 +intronic SCARF2 chr22 20781670 20781670 T C het . 13 +intronic SCARF2 chr22 20783721 20783721 C T het . 5 +exonic SCARF2 chr22 20784050 20784050 T A het . 21 +intronic SCARF2 chr22 20784908 20784909 TT GA het . 16 +exonic KLHL22 chr22 20800835 20800835 A G het . 29 +intronic KLHL22 chr22 20801221 20801221 T C het . 2 +intronic KLHL22 chr22 20804350 20804350 A T het . 8 +intronic KLHL22 chr22 20805369 20805369 T G het . 19 +intronic KLHL22 chr22 20805686 20805686 A G het . 13 +intronic KLHL22 chr22 20806073 20806073 C T het . 12 +intronic KLHL22 chr22 20837034 20837034 - T het . 4 +intronic KLHL22 chr22 20838055 20838055 T C het . 13 +intronic KLHL22 chr22 20838199 20838199 G A het . 6 +intronic KLHL22 chr22 20838229 20838229 T C het . 5 +intronic KLHL22 chr22 20838436 20838436 T C het . 3 +intronic KLHL22 chr22 20843885 20843885 T G het . 5 +intronic KLHL22 chr22 20847472 20847472 A T het . 13 +intergenic KLHL22(dist=9708),MED15(dist=1951) chr22 20859878 20859878 C A het . 2 +UTR5 MED15(NM_001293237:c.-28768T>G) chr22 20862646 20862646 T G het . 10 +intronic MED15 chr22 20891498 20891498 - CCTA het . 14 +intronic MED15 chr22 20891545 20891545 A G het . 6 +intronic MED15 chr22 20891568 20891568 G A het . 2 +intronic MED15 chr22 20897846 20897846 C T het . 2 +intronic MED15 chr22 20901806 20901806 C A het . 2 +intronic MED15 chr22 20903517 20903517 T C het . 3 +intronic MED15 chr22 20907303 20907303 T C het . 5 +exonic MED15 chr22 20918793 20918795 CAG - het . 15 +exonic MED15 chr22 20918817 20918819 CAG - het . 14 +exonic MED15 chr22 20918897 20918899 GCA - het . 16 +intronic MED15 chr22 20929286 20929286 C G het . 3 +intronic MED15 chr22 20938772 20938772 T C het . 3 +intronic MED15 chr22 20938775 20938775 T C het . 3 +exonic MED15 chr22 20940085 20940085 G A het . 10 +intronic MED15 chr22 20940208 20940208 T C het . 5 +intergenic MED15(dist=5984),POM121L4P(dist=95940) chr22 20947903 20947903 C G het . 2 +intergenic MED15(dist=12950),POM121L4P(dist=88974) chr22 20954869 20954869 C T het . 2 +intergenic MED15(dist=15577),POM121L4P(dist=86347) chr22 20957496 20957496 G A het . 4 +intergenic MED15(dist=33771),POM121L4P(dist=68153) chr22 20975690 20975690 A G het . 3 +intergenic MED15(dist=36617),POM121L4P(dist=65307) chr22 20978536 20978536 G A het . 5 +intergenic MED15(dist=38640),POM121L4P(dist=63284) chr22 20980559 20980559 G T het . 9 +intergenic MED15(dist=51558),POM121L4P(dist=50366) chr22 20993477 20993477 T G het . 2 +intergenic MED15(dist=64579),POM121L4P(dist=37345) chr22 21006498 21006498 G A het . 2 +intergenic MED15(dist=82961),POM121L4P(dist=18963) chr22 21024880 21024880 A G het . 7 +intergenic MED15(dist=92890),POM121L4P(dist=9034) chr22 21034809 21034809 G A het . 3 +ncRNA_exonic POM121L4P chr22 21044848 21044848 A T het . 17 +exonic PI4KA chr22 21066789 21066789 A G het . 5 +intronic PI4KA chr22 21068878 21068878 C T het . 15 +intronic PI4KA chr22 21073122 21073122 G A het . 14 +intronic PI4KA chr22 21075537 21075537 A C het . 7 +intronic PI4KA chr22 21078301 21078301 C T het . 2 +intronic PI4KA chr22 21079909 21079909 A G het . 9 +intronic PI4KA chr22 21081964 21081964 C T het . 3 +intronic PI4KA chr22 21088146 21088146 C G het . 5 +intronic PI4KA chr22 21099297 21099297 T C het . 1 +intronic PI4KA chr22 21107153 21107153 T C het . 8 +intronic PI4KA,SERPIND1 chr22 21140232 21140234 ATG - het . 19 +exonic SERPIND1 chr22 21141300 21141300 T C het . 34 +intronic PI4KA chr22 21167605 21167605 - ACA het . 5 +exonic PI4KA chr22 21167787 21167787 G A het . 12 +intronic PI4KA chr22 21174399 21174399 T C het . 1 +intronic PI4KA chr22 21178464 21178464 G A het . 7 +intronic PI4KA chr22 21178484 21178484 C G het . 11 +intronic PI4KA chr22 21183123 21183123 G A het . 2 +UTR5 SNAP29(NM_004782:c.-19C>T) chr22 21213380 21213380 C T het . 24 +exonic SNAP29 chr22 21213416 21213416 A G het . 31 +intronic SNAP29 chr22 21224581 21224581 G A het . 10 +intronic CRKL chr22 21289810 21289810 - T het . 3 +intronic AIFM3 chr22 21322326 21322326 C - het . 2 +intronic AIFM3 chr22 21322351 21322351 T C het . 1 +intronic AIFM3 chr22 21329123 21329123 A G het . 3 +exonic AIFM3 chr22 21330787 21330787 C T het . 21 +intronic AIFM3 chr22 21331950 21331950 C G het . 6 +intronic AIFM3 chr22 21332122 21332122 G A het . 13 +intronic AIFM3 chr22 21334924 21334924 G C het . 6 +intronic AIFM3 chr22 21335259 21335259 C A het . 8 +intronic LZTR1 chr22 21337266 21337266 G A het . 6 +intronic LZTR1 chr22 21337415 21337415 C G het . 8 +intronic LZTR1 chr22 21342509 21342509 C T het . 2 +intronic LZTR1 chr22 21343993 21343998 GGCGCA - het . 5 +intronic LZTR1 chr22 21344002 21344032 AGAGGAGGTGAGGGGCACGGGGAGCCAGGGC - het . 5 +intronic LZTR1 chr22 21344592 21344592 A C het . 3 +intronic LZTR1 chr22 21344884 21344884 C T het . 2 +intronic LZTR1 chr22 21344905 21344905 A G het . 2 +intronic LZTR1 chr22 21344920 21344920 G C het . 1 +intronic LZTR1 chr22 21346485 21346485 T C het . 7 +intronic LZTR1 chr22 21346719 21346719 A C het . 2 +intronic LZTR1 chr22 21348084 21348084 T C het . 10 +exonic LZTR1 chr22 21348914 21348914 C T het . 23 +intronic LZTR1 chr22 21349037 21349037 A G het . 4 +intronic LZTR1 chr22 21350936 21350936 G A het . 6 +exonic THAP7 chr22 21354970 21354970 C G het . 7 +ncRNA_exonic THAP7-AS1 chr22 21356316 21356316 C G het . 3 +ncRNA_exonic THAP7-AS1 chr22 21356824 21356824 G A het . 12 +ncRNA_exonic THAP7-AS1 chr22 21356893 21356896 AGAC - het . 9 +ncRNA_exonic THAP7-AS1 chr22 21356925 21356925 T A het . 7 +ncRNA_exonic THAP7-AS1 chr22 21357006 21357006 C T het . 6 +ncRNA_exonic THAP7-AS1,TUBA3FP chr22 21363240 21363240 C T het . 7 +ncRNA_exonic THAP7-AS1,TUBA3FP chr22 21363452 21363452 A G het . 5 +ncRNA_exonic THAP7-AS1,TUBA3FP chr22 21363561 21363561 T C het . 12 +intronic P2RX6 chr22 21372160 21372160 G T het . 12 +intronic P2RX6 chr22 21372374 21372374 G A het . 18 +intronic P2RX6 chr22 21372405 21372405 G T het . 16 +intronic P2RX6 chr22 21372467 21372467 C G het . 9 +exonic P2RX6 chr22 21377301 21377301 C A het . 14 +exonic P2RX6 chr22 21377650 21377650 G A het . 11 +intronic P2RX6 chr22 21377958 21377958 A C het . 8 +exonic SLC7A4 chr22 21385843 21385843 G A het . 8 +exonic SLC7A4 chr22 21385985 21385985 C T het . 13 +intergenic MIR649(dist=6822),P2RX6P(dist=1298) chr22 21395383 21395383 A - het . 4 +downstream P2RX6P(dist=30) chr22 21396651 21396651 T A het . 12 +ncRNA_intronic P2RX6P chr22 21396825 21396825 A C het . 10 +intronic LRRC74B chr22 21411598 21411598 T C het . 5 +intergenic LRRC74B(dist=1342),BCRP2(dist=37506) chr22 21419799 21419799 C T het . 4 +intergenic LRRC74B(dist=2968),BCRP2(dist=35880) chr22 21421425 21421425 A C het . 3 +intergenic LRRC74B(dist=3639),BCRP2(dist=35209) chr22 21422096 21422096 A C het . 2 +ncRNA_intronic BCRP2 chr22 21458075 21458075 A G het . 1 +ncRNA_intronic BCRP2 chr22 21458082 21458082 C T het . 2 +exonic HIC2 chr22 21800042 21800042 T C het . 6 +exonic HIC2 chr22 21800444 21800444 T C het . 6 +intronic UBE2L3 chr22 21968717 21968717 A - het . 13 +exonic CCDC116 chr22 21988599 21988599 G A het . 8 +upstream MIR130B,MIR301B(dist=127) chr22 22007143 22007143 G A het . 2 +upstream;downstream MIR130B(dist=223);MIR301B(dist=23) chr22 22007370 22007370 T C het . 8 +intronic PPIL2 chr22 22022917 22022917 A - het . 3 +intronic PPIL2 chr22 22024456 22024456 T C het . 12 +intronic PPIL2 chr22 22024507 22024507 G A het . 10 +intronic PPIL2 chr22 22028734 22028734 A G het . 2 +intronic PPIL2 chr22 22028743 22028743 C A het . 1 +intronic PPIL2 chr22 22035187 22035187 C T het . 4 +intronic PPIL2 chr22 22036832 22036832 T C het . 10 +intronic PPIL2 chr22 22042079 22042079 G T het . 4 +intronic PPIL2 chr22 22042918 22042918 C T het . 7 +intronic PPIL2 chr22 22043909 22043909 G A het . 3 +intronic PPIL2 chr22 22043913 22043913 - G het . 3 +intronic PPIL2 chr22 22045027 22045027 T C het . 2 +intronic PPIL2 chr22 22048770 22048770 C G het . 2 +intronic YPEL1 chr22 22055581 22055581 C A het . 19 +intronic YPEL1 chr22 22058355 22058355 A G het . 22 +intronic YPEL1 chr22 22058586 22058586 T C het . 5 +intronic YPEL1 chr22 22075715 22075724 TTTTTTTTTT - het . 2 +intergenic YPEL1(dist=6679),MAPK1(dist=17145) chr22 22096802 22096802 G C het . 1 +intronic MAPK1 chr22 22142389 22142389 A - het . 2 +exonic MAPK1 chr22 22160301 22160301 T C het . 5 +intronic MAPK1 chr22 22170874 22170874 A - het . 2 +ncRNA_intronic PRAMENP chr22 22394743 22394743 T C het . 2 +ncRNA_intronic PRAMENP chr22 22394749 22394749 T C het . 2 +intergenic PRAMENP(dist=94694),VPREB1(dist=106166) chr22 22493026 22493026 C T het . 2 +intergenic PRAMENP(dist=118552),VPREB1(dist=82308) chr22 22516884 22516884 C - het . 18 +intergenic PRAMENP(dist=118666),VPREB1(dist=82194) chr22 22516998 22516998 C T het . 9 +intergenic PRAMENP(dist=118694),VPREB1(dist=82166) chr22 22517026 22517026 T C het . 9 +intergenic PRAMENP(dist=134433),VPREB1(dist=66427) chr22 22532765 22532765 T C het . 2 +intergenic PRAMENP(dist=152007),VPREB1(dist=48853) chr22 22550339 22550339 G C het . 8 +intergenic PRAMENP(dist=152118),VPREB1(dist=48742) chr22 22550450 22550450 C G het . 18 +intergenic PRAMENP(dist=152178),VPREB1(dist=48682) chr22 22550510 22550510 T G het . 23 +intergenic PRAMENP(dist=152428),VPREB1(dist=48432) chr22 22550760 22550760 A G het . 2 +intergenic PRAMENP(dist=158036),VPREB1(dist=42824) chr22 22556368 22556368 C T het . 12 +intergenic PRAMENP(dist=160083),VPREB1(dist=40777) chr22 22558415 22558415 - A het . 7 +intergenic PRAMENP(dist=160128),VPREB1(dist=40732) chr22 22558460 22558460 G T het . 4 +intergenic PRAMENP(dist=171116),VPREB1(dist=29744) chr22 22569448 22569448 T A het . 16 +intergenic PRAMENP(dist=171222),VPREB1(dist=29638) chr22 22569554 22569554 C A het . 23 +intergenic PRAMENP(dist=183999),VPREB1(dist=16861) chr22 22582331 22582331 C T het . 2 +intergenic PRAMENP(dist=197927),VPREB1(dist=2933) chr22 22596259 22596259 C T het . 2 +ncRNA_intronic BMS1P20 chr22 22657287 22657287 C A het . 4 +ncRNA_intronic BMS1P20 chr22 22657292 22657292 A T het . 4 +ncRNA_intronic BMS1P20 chr22 22660748 22660748 C T het . 1 +ncRNA_intronic BMS1P20 chr22 22661318 22661318 T C het . 18 +ncRNA_intronic BMS1P20 chr22 22661626 22661626 T C het . 9 +ncRNA_intronic BMS1P20 chr22 22661662 22661662 A T het . 6 +ncRNA_intronic BMS1P20 chr22 22662770 22662770 T A het . 4 +ncRNA_exonic BMS1P20 chr22 22664158 22664158 G A het . 5 +ncRNA_exonic BMS1P20 chr22 22677176 22677176 T C het . 21 +intergenic BMS1P20(dist=20703),ZNF280B(dist=140744) chr22 22698027 22698027 A G het . 3 +intergenic BMS1P20(dist=29898),ZNF280B(dist=131549) chr22 22707222 22707222 - G het . 3 +intergenic BMS1P20(dist=30169),ZNF280B(dist=131278) chr22 22707493 22707493 T C het . 11 +intergenic BMS1P20(dist=30203),ZNF280B(dist=131244) chr22 22707527 22707527 C T het . 12 +intergenic BMS1P20(dist=35143),ZNF280B(dist=126304) chr22 22712467 22712467 T G het . 7 +intergenic BMS1P20(dist=35418),ZNF280B(dist=126029) chr22 22712742 22712742 A G het . 2 +intergenic BMS1P20(dist=41972),ZNF280B(dist=119475) chr22 22719296 22719296 A C het . 3 +intergenic BMS1P20(dist=45409),ZNF280B(dist=116038) chr22 22722733 22722733 T C het . 2 +intergenic BMS1P20(dist=46812),ZNF280B(dist=114635) chr22 22724136 22724136 T - het . 22 +intergenic BMS1P20(dist=47017),ZNF280B(dist=114430) chr22 22724341 22724341 A C het . 18 +intergenic BMS1P20(dist=47070),ZNF280B(dist=114377) chr22 22724394 22724394 T C het . 4 +intergenic BMS1P20(dist=53035),ZNF280B(dist=108412) chr22 22730359 22730359 C T het . 6 +intergenic BMS1P20(dist=53310),ZNF280B(dist=108137) chr22 22730634 22730634 G A het . 15 +intergenic BMS1P20(dist=53372),ZNF280B(dist=108075) chr22 22730696 22730696 C T het . 31 +intergenic BMS1P20(dist=53378),ZNF280B(dist=108069) chr22 22730702 22730702 A G het . 32 +intergenic BMS1P20(dist=66413),ZNF280B(dist=95034) chr22 22743737 22743737 C T het . 2 +intergenic BMS1P20(dist=81683),ZNF280B(dist=79764) chr22 22759007 22759007 T G het . 14 +intergenic BMS1P20(dist=81720),ZNF280B(dist=79727) chr22 22759044 22759044 T C het . 4 +intergenic BMS1P20(dist=81770),ZNF280B(dist=79677) chr22 22759094 22759094 T C het . 2 +intergenic BMS1P20(dist=86763),ZNF280B(dist=74684) chr22 22764087 22764087 G A het . 5 +intergenic BMS1P20(dist=91119),ZNF280B(dist=70328) chr22 22768443 22768443 T C het . 2 +intergenic BMS1P20(dist=105070),ZNF280B(dist=56377) chr22 22782394 22782394 A G het . 3 +intergenic BMS1P20(dist=109086),ZNF280B(dist=52361) chr22 22786410 22786410 C T het . 7 +intergenic BMS1P20(dist=112737),ZNF280B(dist=48710) chr22 22790061 22790061 C T het . 3 +exonic ZNF280B chr22 22842206 22842206 T C het . 24 +exonic ZNF280B chr22 22842957 22842957 T G het . 18 +exonic ZNF280B chr22 22843118 22843118 C T het . 25 +intronic ZNF280B chr22 22845678 22845678 G T het . 2 +intronic ZNF280B chr22 22859891 22859896 AAATAA - het . 3 +intronic ZNF280B chr22 22860286 22860286 A G het . 2 +exonic ZNF280A chr22 22868493 22868493 G T het . 19 +exonic ZNF280A chr22 22868497 22868497 G C het . 19 +exonic ZNF280A chr22 22869123 22869123 T C het . 17 +exonic ZNF280A chr22 22869209 22869209 C G het . 20 +exonic ZNF280A chr22 22869218 22869218 T C het . 19 +exonic ZNF280A chr22 22869538 22869538 A G het . 24 +exonic ZNF280A chr22 22869545 22869545 T G het . 24 +exonic ZNF280A chr22 22869548 22869548 T C het . 23 +exonic ZNF280A chr22 22869649 22869649 G C het . 26 +exonic ZNF280A chr22 22869742 22869742 C A het . 14 +intronic ZNF280A chr22 22873500 22873500 T G het . 3 +intergenic ZNF280A(dist=4346),PRAME(dist=11148) chr22 22878970 22878970 C T het . 1 +intergenic ZNF280A(dist=4348),PRAME(dist=11146) chr22 22878972 22878972 T A het . 1 +intergenic ZNF280A(dist=5230),PRAME(dist=10264) chr22 22879854 22879854 T C het . 2 +intergenic ZNF280A(dist=5660),PRAME(dist=9834) chr22 22880284 22880284 A G het . 2 +exonic PRAME chr22 22899234 22899234 A G het . 24 +UTR5 PRAME(NM_206953:c.-111_-112delinsCT) chr22 22899363 22899364 GA AG het . 15 +UTR5 PRAME(NM_206953:c.-162T>C) chr22 22899414 22899414 A G het . 7 +intergenic LL22NC03-63E9.3(dist=3087),POM121L1P(dist=61937) chr22 22912091 22912091 T C het . 2 +intergenic LL22NC03-63E9.3(dist=13636),POM121L1P(dist=51388) chr22 22922640 22922640 C G het . 29 +intergenic LL22NC03-63E9.3(dist=13874),POM121L1P(dist=51150) chr22 22922878 22922878 T C het . 2 +intergenic LL22NC03-63E9.3(dist=21766),POM121L1P(dist=43258) chr22 22930770 22930770 A G het . 5 +intergenic LL22NC03-63E9.3(dist=35149),POM121L1P(dist=29875) chr22 22944153 22944153 G A het . 2 +intergenic LL22NC03-63E9.3(dist=38152),POM121L1P(dist=26872) chr22 22947156 22947156 C G het . 1 +intergenic LL22NC03-63E9.3(dist=43235),POM121L1P(dist=21789) chr22 22952239 22952239 G A het . 2 +ncRNA_exonic POM121L1P chr22 22974940 22974940 T C het . 2 +ncRNA_intronic POM121L1P chr22 22978157 22978157 - A het . 2 +ncRNA_intronic POM121L1P chr22 22978190 22978190 T G het . 2 +intergenic GGTLC2(dist=13017),MIR650(dist=161885) chr22 23003385 23003385 G A het . 8 +intergenic GGTLC2(dist=13357),MIR650(dist=161545) chr22 23003725 23003725 G A het . 3 +intergenic GGTLC2(dist=16539),MIR650(dist=158363) chr22 23006907 23006907 A G het . 6 +intergenic GGTLC2(dist=20575),MIR650(dist=154327) chr22 23010943 23010943 G A het . 11 +intergenic GGTLC2(dist=38729),MIR650(dist=136173) chr22 23029097 23029097 A G het . 6 +intergenic GGTLC2(dist=38895),MIR650(dist=136007) chr22 23029263 23029263 T C het . 8 +intergenic GGTLC2(dist=39158),MIR650(dist=135744) chr22 23029526 23029526 G C het . 22 +intergenic GGTLC2(dist=81856),MIR650(dist=93046) chr22 23072224 23072224 C T het . 2 +intergenic GGTLC2(dist=164214),MIR650(dist=10688) chr22 23154582 23154582 G C het . 23 +intergenic GGTLC2(dist=171476),MIR650(dist=3425) chr22 23161844 23161845 CC - het . 3 +ncRNA_exonic MIR650 chr22 23165340 23165340 C G het . 15 +downstream MIR650(dist=474) chr22 23165839 23165839 - C het . 9 +intergenic MIR650(dist=13334),MIR5571(dist=49748) chr22 23178699 23178699 A G het . 2 +intergenic MIR650(dist=33747),MIR5571(dist=29335) chr22 23199112 23199112 G A het . 8 +intergenic MIR650(dist=37598),MIR5571(dist=25484) chr22 23202963 23202963 G T het . 2 +intergenic MIR650(dist=57896),MIR5571(dist=5186) chr22 23223261 23223261 G T het . 11 +intergenic MIR650(dist=57913),MIR5571(dist=5169) chr22 23223278 23223278 A T het . 16 +intergenic IGLL5(dist=3851),RSPH14(dist=159729) chr22 23241864 23241864 G A het . 2 +intergenic IGLL5(dist=9015),RSPH14(dist=154565) chr22 23247028 23247028 A G het . 2 +intergenic IGLL5(dist=9069),RSPH14(dist=154511) chr22 23247082 23247082 C T het . 3 +intergenic IGLL5(dist=15257),RSPH14(dist=148323) chr22 23253270 23253270 A C het . 5 +intergenic IGLL5(dist=15290),RSPH14(dist=148290) chr22 23253303 23253303 G C het . 4 +intergenic IGLL5(dist=18451),RSPH14(dist=145129) chr22 23256464 23256464 G C het . 4 +intergenic IGLL5(dist=22494),RSPH14(dist=141086) chr22 23260507 23260507 T A het . 2 +intergenic IGLL5(dist=23806),RSPH14(dist=139774) chr22 23261819 23261819 G A het . 35 +intergenic IGLL5(dist=23843),RSPH14(dist=139737) chr22 23261856 23261856 G A het . 28 +intergenic IGLL5(dist=25589),RSPH14(dist=137991) chr22 23263602 23263602 C T het . 11 +intergenic IGLL5(dist=25695),RSPH14(dist=137885) chr22 23263708 23263708 T G het . 3 +intergenic IGLL5(dist=26851),RSPH14(dist=136729) chr22 23264864 23264864 T A het . 30 +intergenic IGLL5(dist=57312),RSPH14(dist=106268) chr22 23295325 23295325 G A het . 2 +exonic GNAZ chr22 23438191 23438191 C T het . 4 +UTR3 GNAZ(NM_002073:c.*768_*769insG) chr22 23466386 23466386 - G het . 4 +UTR3 GNAZ(NM_002073:c.*770G>T) chr22 23466388 23466388 G T het . 4 +exonic RSPH14 chr22 23482460 23482460 A G het . 24 +intronic RSPH14 chr22 23482718 23482718 C T het . 6 +intronic RSPH14 chr22 23482744 23482744 C A het . 4 +UTR5 RAB36(NM_004914:c.-20C>T,NM_001349878:c.-20C>T,NM_001349877:c.-20C>T) chr22 23487533 23487533 C T het . 18 +exonic RAB36 chr22 23503121 23503121 G A het . 14 +exonic BCR chr22 23523630 23523630 C A het . 7 +exonic BCR chr22 23523871 23523871 G A het . 5 +intronic BCR chr22 23541488 23541488 C T het . 14 +intronic BCR chr22 23585132 23585132 A G het . 5 +intronic BCR chr22 23585311 23585311 T C het . 2 +intronic BCR chr22 23603957 23603957 T G het . 2 +ncRNA_exonic FBXW4P1 chr22 23606384 23606384 C T het . 11 +intronic BCR chr22 23614426 23614426 G A het . 2 +intronic BCR chr22 23615346 23615346 G A het . 14 +intronic BCR chr22 23615801 23615801 A G het . 10 +exonic BCR chr22 23627369 23627369 A G het . 13 +intronic BCR chr22 23627441 23627441 T C het . 3 +exonic BCR chr22 23631801 23631801 T C het . 16 +intronic BCR chr22 23631813 23631813 - C het . 15 +intronic BCR chr22 23631823 23631823 T C het . 16 +intronic BCR chr22 23632513 23632513 A G het . 13 +intronic BCR chr22 23632636 23632636 C A het . 15 +intronic BCR chr22 23632665 23632665 C A het . 11 +intronic BCR chr22 23633252 23633252 G A het . 2 +intronic BCR chr22 23656148 23656148 T G het . 12 +UTR3 BCR(NM_021574:c.*165_*166delinsGC,NM_004327:c.*165_*166delinsGC) chr22 23657874 23657875 AA GC het . 7 +UTR3 BCR(NM_021574:c.*172C>T,NM_004327:c.*172C>T) chr22 23657881 23657881 C T het . 8 +UTR3 BCR(NM_021574:c.*230T>C,NM_004327:c.*230T>C) chr22 23657939 23657939 T C het . 5 +intergenic BCR(dist=4646),LINC02556(dist=3933) chr22 23664870 23664870 T - het . 10 +downstream CES5AP1(dist=765) chr22 23701028 23701028 G A het . 1 +downstream CES5AP1(dist=30) chr22 23701763 23701763 C G het . 2 +ncRNA_exonic CES5AP1 chr22 23701804 23701804 T C het . 6 +ncRNA_exonic CES5AP1 chr22 23708474 23708474 C A het . 15 +ncRNA_intronic CES5AP1 chr22 23712520 23712520 A G het . 5 +ncRNA_exonic CES5AP1 chr22 23712647 23712647 A C het . 11 +ncRNA_intronic CES5AP1 chr22 23717987 23717987 A G het . 2 +ncRNA_intronic CES5AP1 chr22 23719370 23719370 T C het . 2 +ncRNA_intronic ZDHHC8P1 chr22 23735649 23735649 C A het . 8 +ncRNA_exonic ZDHHC8P1 chr22 23736213 23736213 T C het . 6 +ncRNA_exonic ZDHHC8P1 chr22 23736241 23736241 G A het . 5 +ncRNA_exonic ZDHHC8P1 chr22 23742308 23742308 C A het . 9 +intergenic ZDHHC8P1(dist=5550),LINC01659(dist=25402) chr22 23750349 23750349 T C het . 3 +intergenic ZDHHC8P1(dist=12987),LINC01659(dist=17965) chr22 23757786 23757786 G A het . 2 +ncRNA_exonic LINC01658 chr22 23815591 23815591 C T het . 33 +ncRNA_intronic LINC01658 chr22 23815760 23815760 T C het . 5 +ncRNA_intronic LINC01658 chr22 23817240 23817240 G A het . 2 +ncRNA_intronic LINC01658 chr22 23818030 23818030 T A het . 3 +ncRNA_intronic LINC01658 chr22 23818083 23818083 C T het . 12 +ncRNA_intronic LINC01658 chr22 23818131 23818131 - ACACGTCC het . 6 +ncRNA_intronic LINC01658 chr22 23825183 23825183 T C het . 4 +ncRNA_exonic LINC01658 chr22 23825256 23825256 A G het . 10 +intergenic LINC01658(dist=5206),IGLL1(dist=80940) chr22 23834373 23834373 G C het . 4 +intergenic LINC01658(dist=72690),IGLL1(dist=13456) chr22 23901857 23901857 - A het . 2 +exonic IGLL1 chr22 23915652 23915652 G A het . 23 +intronic IGLL1 chr22 23919363 23919363 C A het . 2 +intronic DRICH1 chr22 23955869 23955869 C T het . 18 +intronic DRICH1 chr22 23961742 23961742 - GCACCCATAA het . 7 +intronic DRICH1 chr22 23962744 23962744 - TTC het . 12 +intronic DRICH1 chr22 23962974 23962974 - C het . 4 +intronic DRICH1 chr22 23966720 23966720 C T het . 2 +ncRNA_intronic GUSBP11 chr22 23991420 23991420 C T het . 12 +ncRNA_intronic GUSBP11 chr22 23999186 23999186 G T het . 2 +ncRNA_intronic GUSBP11 chr22 24000276 24000281 TCCTCT - het . 2 +ncRNA_intronic GUSBP11 chr22 24002030 24002030 T C het . 18 +ncRNA_intronic GUSBP11 chr22 24012224 24012224 - A het . 3 +exonic RGL4 chr22 24035970 24035970 C T het . 23 +ncRNA_exonic GUSBP11 chr22 24037625 24037625 - CTGTTG het . 13 +ncRNA_intronic GUSBP11 chr22 24056339 24056339 C G het . 5 +intergenic GUSBP11(dist=3333),ZNF70(dist=20828) chr22 24062943 24062943 A G het . 2 +exonic ZNF70 chr22 24086107 24086107 A G het . 18 +intergenic VPREB3(dist=6954),C22orf15(dist=1617) chr22 24103584 24103584 G A het . 3 +intronic C22orf15 chr22 24106674 24106674 G A het . 5 +intronic CHCHD10 chr22 24108288 24108288 C G het . 3 +exonic CHCHD10 chr22 24108412 24108412 G A het . 8 +intronic CHCHD10 chr22 24109462 24109462 T C het . 2 +intronic CHCHD10 chr22 24109550 24109550 T C het . 11 +intronic MMP11 chr22 24116817 24116817 T C het . 2 +exonic MMP11 chr22 24121378 24121378 C T het . 5 +intronic MMP11 chr22 24122499 24122499 G A het . 10 +intronic MMP11 chr22 24125565 24125565 G A het . 5 +intronic SMARCB1 chr22 24134302 24134302 T C het . 2 +intronic SMARCB1 chr22 24135968 24135968 - T het . 4 +intronic SMARCB1 chr22 24139480 24139480 T C het . 2 +intronic SMARCB1 chr22 24143502 24143502 C G het . 18 +intronic SMARCB1 chr22 24145395 24145395 A G het . 17 +intronic SMARCB1 chr22 24145675 24145675 G C het . 6 +intronic SMARCB1 chr22 24145727 24145727 C T het . 4 +intronic SMARCB1 chr22 24158899 24158899 C A het . 19 +intronic SMARCB1 chr22 24173141 24173141 A C het . 2 +UTR3 DERL3(NM_198440:c.*2287delT,NM_001363072:c.*119delT,NM_001135751:c.*54delT,NM_001002862:c.*2096delT) chr22 24176960 24176960 A - het . 2 +exonic DERL3 chr22 24179922 24179922 G C het . 21 +intergenic DERL3(dist=13373),SLC2A11(dist=4318) chr22 24194572 24194572 G A het . 2 +exonic SLC2A11 chr22 24199704 24199704 C T het . 13 +intronic SLC2A11 chr22 24199765 24199765 C - het . 10 +UTR5 SLC2A11(NM_001024939:c.-76T>A) chr22 24200111 24200111 T A het . 9 +intronic SLC2A11 chr22 24204158 24204158 A G het . 2 +intronic SLC2A11 chr22 24204438 24204438 G T het . 3 +intronic SLC2A11 chr22 24209753 24209753 C A het . 1 +intronic SLC2A11 chr22 24209759 24209759 G C het . 2 +intronic SLC2A11 chr22 24210050 24210050 A C het . 5 +intronic SLC2A11 chr22 24211980 24211980 G T het . 2 +intronic SLC2A11 chr22 24219568 24219568 C A het . 8 +intronic SLC2A11 chr22 24219602 24219602 G T het . 19 +intronic SLC2A11 chr22 24226242 24226242 A G het . 2 +intergenic SLC2A11(dist=2110),MIF-AS1(dist=5488) chr22 24230409 24230409 G A het . 3 +ncRNA_exonic MIF-AS1 chr22 24237463 24237463 T C het . 18 +intergenic MIF-AS1(dist=10649),GSTT2B(dist=47835) chr22 24251766 24251766 C A het . 2 +intergenic MIF-AS1(dist=20281),GSTT2B(dist=38203) chr22 24261398 24261398 G T het . 2 +intergenic MIF-AS1(dist=22443),GSTT2B(dist=36041) chr22 24263560 24263560 A - het . 2 +intergenic MIF-AS1(dist=24943),GSTT2B(dist=33541) chr22 24266060 24266060 T C het . 2 +intergenic MIF-AS1(dist=25750),GSTT2B(dist=32734) chr22 24266867 24266867 G A het . 2 +intergenic MIF-AS1(dist=26878),GSTT2B(dist=31606) chr22 24267995 24267995 G C het . 3 +intergenic MIF-AS1(dist=27379),GSTT2B(dist=31105) chr22 24268496 24268496 - T het . 3 +intergenic MIF-AS1(dist=27553),GSTT2B(dist=30931) chr22 24268670 24268670 A G het . 7 +intergenic MIF-AS1(dist=27618),GSTT2B(dist=30866) chr22 24268735 24268735 G A het . 1 +intergenic MIF-AS1(dist=27645),GSTT2B(dist=30839) chr22 24268762 24268762 C T het . 3 +intergenic MIF-AS1(dist=28241),GSTT2B(dist=30243) chr22 24269358 24269358 C T het . 10 +intergenic MIF-AS1(dist=28342),GSTT2B(dist=30142) chr22 24269459 24269459 G T het . 2 +intergenic MIF-AS1(dist=28916),GSTT2B(dist=29568) chr22 24270033 24270033 A G het . 13 +intergenic MIF-AS1(dist=28991),GSTT2B(dist=29493) chr22 24270108 24270108 A T het . 10 +intergenic MIF-AS1(dist=29000),GSTT2B(dist=29484) chr22 24270117 24270117 C A het . 10 +intergenic MIF-AS1(dist=29012),GSTT2B(dist=29472) chr22 24270129 24270129 T G het . 13 +intergenic MIF-AS1(dist=29468),GSTT2B(dist=29016) chr22 24270585 24270585 G A het . 14 +intergenic MIF-AS1(dist=29615),GSTT2B(dist=28868) chr22 24270732 24270733 GG CA het . 10 +intergenic MIF-AS1(dist=29660),GSTT2B(dist=28824) chr22 24270777 24270777 C T het . 8 +intronic DDTL chr22 24312204 24312204 G A het . 2 +intronic GSTT4 chr22 24353184 24353184 C T het . 2 +intronic GSTT4 chr22 24374626 24374626 - C het . 2 +intronic GSTT1,GSTT4 chr22 24377034 24377034 A G het . 4 +intronic GSTT1,GSTT4 chr22 24383954 24383954 C T het . 7 +exonic CABIN1 chr22 24447303 24447303 G A het . 32 +intronic CABIN1 chr22 24452885 24452885 A G het . 18 +intronic CABIN1 chr22 24456708 24456708 T C het . 3 +exonic CABIN1 chr22 24459438 24459438 T C het . 43 +exonic CABIN1 chr22 24460593 24460593 A C het . 43 +intronic CABIN1 chr22 24468184 24468184 - C het . 2 +intronic CABIN1 chr22 24472270 24472270 A G het . 13 +exonic CABIN1 chr22 24479193 24479193 C G het . 12 +intronic CABIN1 chr22 24480503 24480503 G A het . 32 +intronic CABIN1 chr22 24480828 24480828 T C het . 4 +exonic CABIN1 chr22 24483459 24483459 G A het . 17 +intronic CABIN1 chr22 24492061 24492061 T C het . 21 +intronic CABIN1 chr22 24509835 24509835 C T het . 9 +intronic CABIN1 chr22 24535559 24535559 T C het . 2 +exonic CABIN1 chr22 24561534 24561534 G A het . 22 +intronic CABIN1 chr22 24567608 24567608 C T het . 4 +exonic SUSD2 chr22 24579049 24579049 G A het . 9 +intronic SUSD2 chr22 24580322 24580322 G A het . 5 +exonic SUSD2 chr22 24581182 24581182 T C het . 9 +intronic SUSD2 chr22 24583879 24583879 T C het . 8 +intergenic SUSD2(dist=12080),GGT5(dist=18468) chr22 24597154 24597154 G A het . 2 +intergenic SUSD2(dist=26689),GGT5(dist=3859) chr22 24611763 24611763 T C het . 2 +intergenic SUSD2(dist=27913),GGT5(dist=2635) chr22 24612987 24612987 A T het . 1 +intronic GGT5 chr22 24616876 24616876 A G het . 3 +intronic GGT5 chr22 24621703 24621703 C A het . 5 +exonic GGT5 chr22 24622648 24622648 T C het . 16 +upstream POM121L9P(dist=888) chr22 24646701 24646701 G A het . 2 +intergenic POM121L9P(dist=3758),SPECC1L(dist=1535) chr22 24665250 24665250 - T het . 12 +exonic SPECC1L chr22 24717518 24717518 G A het . 44 +exonic SPECC1L chr22 24717850 24717850 A G het . 42 +ncRNA_intronic SPECC1L-ADORA2A chr22 24730587 24730587 C T het . 14 +ncRNA_intronic SPECC1L-ADORA2A chr22 24739418 24739418 - T het . 13 +exonic SPECC1L chr22 24761467 24761467 G A het . 33 +ncRNA_intronic SPECC1L-ADORA2A chr22 24775348 24775348 C T het . 2 +ncRNA_intronic SPECC1L-ADORA2A chr22 24807737 24807737 C A het . 14 +exonic ADORA2A chr22 24836832 24836832 G A het . 21 +exonic ADORA2A chr22 24837301 24837301 T C het . 6 +ncRNA_intronic ADORA2A-AS1 chr22 24886650 24886650 C T het . 2 +UTR5 UPB1(NM_016327:c.-80C>G) chr22 24891292 24891292 C G het . 6 +intronic UPB1 chr22 24898310 24898310 C T het . 28 +intronic UPB1 chr22 24906964 24906964 T - het . 7 +splicing UPB1(NM_016327:exon9:c.917-1G>A) chr22 24919586 24919586 G A het . 35 +UTR3 GUCD1(NM_001284257:c.*133T>C,NM_001284256:c.*133T>C,NM_001284255:c.*66T>C,NM_001284254:c.*66T>C,NM_001284253:c.*66T>C,NM_001284252:c.*66T>C,NM_001284251:c.*66T>C,NM_031444:c.*66T>C) chr22 24938908 24938908 A G het . 4 +intronic GUCD1 chr22 24939115 24939115 A G het . 4 +intronic GUCD1 chr22 24944053 24944053 C T het . 9 +intronic SNRPD3 chr22 24953571 24953571 A G het . 9 +intronic SNRPD3 chr22 24958017 24958017 G A het . 2 +intronic SNRPD3 chr22 24963735 24963735 A - het . 2 +exonic SNRPD3 chr22 24964128 24964128 T C het . 9 +intronic SNRPD3 chr22 24966393 24966393 C A het . 2 +upstream GGT1(dist=93) chr22 24979625 24979625 A G het . 7 +ncRNA_exonic POM121L10P chr22 25053675 25053675 G C het . 2 +intergenic POM121L10P(dist=27472),PIWIL3(dist=32415) chr22 25082586 25082586 T G het . 5 +intergenic POM121L10P(dist=27521),PIWIL3(dist=32366) chr22 25082635 25082635 C T het . 5 +intergenic POM121L10P(dist=27730),PIWIL3(dist=32157) chr22 25082844 25082844 C G het . 2 +intergenic POM121L10P(dist=28034),PIWIL3(dist=31853) chr22 25083148 25083148 A C het . 14 +intergenic POM121L10P(dist=28056),PIWIL3(dist=31831) chr22 25083170 25083170 G A het . 6 +intergenic POM121L10P(dist=28340),PIWIL3(dist=31547) chr22 25083454 25083454 G A het . 13 +intergenic POM121L10P(dist=28558),PIWIL3(dist=31329) chr22 25083672 25083672 A G het . 17 +intergenic POM121L10P(dist=28583),PIWIL3(dist=31304) chr22 25083697 25083697 G A het . 16 +intergenic POM121L10P(dist=41699),PIWIL3(dist=18188) chr22 25096813 25096813 G A het . 2 +intergenic POM121L10P(dist=41864),PIWIL3(dist=18023) chr22 25096978 25096978 A G het . 12 +intergenic POM121L10P(dist=42134),PIWIL3(dist=17753) chr22 25097248 25097248 T G het . 5 +intergenic POM121L10P(dist=55762),PIWIL3(dist=4125) chr22 25110876 25110876 T C het . 2 +exonic PIWIL3 chr22 25119210 25119210 A C het . 32 +intronic PIWIL3 chr22 25124095 25124095 C T het . 21 +intronic PIWIL3 chr22 25129964 25129964 A G het . 6 +intronic PIWIL3 chr22 25145094 25145094 C T het . 13 +exonic PIWIL3 chr22 25145453 25145453 C T het . 11 +exonic PIWIL3 chr22 25145471 25145471 A G het . 12 +intronic PIWIL3 chr22 25147159 25147159 A G het . 2 +intronic PIWIL3 chr22 25151638 25151638 T C het . 3 +exonic PIWIL3 chr22 25151806 25151806 C A het . 38 +intronic PIWIL3 chr22 25151890 25151891 CA AC het . 15 +intronic PIWIL3 chr22 25153811 25153813 AAA - het . 3 +intronic PIWIL3 chr22 25158326 25158326 A G het . 4 +intronic PIWIL3 chr22 25165514 25165514 G A het . 3 +UTR5 PIWIL3(NM_001255975:c.-12022C>G,NM_001008496:c.-12022C>G) chr22 25170488 25170488 G C het . 3 +intergenic PIWIL3(dist=6684),SGSM1(dist=24817) chr22 25177371 25177371 T A het . 2 +intergenic PIWIL3(dist=8683),SGSM1(dist=22818) chr22 25179370 25179370 T G het . 2 +intergenic PIWIL3(dist=11937),SGSM1(dist=19564) chr22 25182624 25182624 T C het . 2 +intergenic PIWIL3(dist=15384),SGSM1(dist=16117) chr22 25186071 25186071 A G het . 2 +intronic SGSM1 chr22 25208398 25208398 A G het . 2 +intronic SGSM1 chr22 25209377 25209377 G A het . 2 +intronic SGSM1 chr22 25214209 25214209 A T het . 3 +intronic SGSM1 chr22 25215305 25215305 C T het . 2 +intronic SGSM1 chr22 25235091 25235091 T C het . 2 +intronic SGSM1 chr22 25251500 25251500 C T het . 16 +intronic SGSM1 chr22 25285019 25285019 C G het . 2 +intronic SGSM1 chr22 25291183 25291185 TTC - het . 21 +UTR3 SGSM1(NM_001098497:c.*15C>T,NM_001098498:c.*15C>T,NM_001039948:c.*15C>T,NM_133454:c.*15C>T) chr22 25320256 25320256 C T het . 14 +intergenic TMEM211(dist=57849),KIAA1671(dist=23430) chr22 25400511 25400511 T C het . 2 +intronic KIAA1671 chr22 25525627 25525628 TT - het . 1 +intronic KIAA1671 chr22 25575620 25575620 T C het . 2 +intronic KIAA1671 chr22 25577554 25577554 G A het . 4 +exonic KIAA1671 chr22 25577688 25577688 G A het . 16 +exonic KIAA1671 chr22 25577733 25577733 T C het . 17 +intronic KIAA1671 chr22 25586564 25586564 A G het . 4 +intronic CRYBB3 chr22 25597331 25597331 T C het . 21 +exonic CRYBB3 chr22 25601196 25601196 C G het . 20 +intergenic CRYBB3(dist=2705),CRYBB2(dist=9581) chr22 25606031 25606031 A G het . 2 +intronic CRYBB2 chr22 25617602 25617602 A G het . 2 +intronic CRYBB2 chr22 25620103 25620103 C A het . 1 +intronic CRYBB2 chr22 25625554 25625554 G A het . 26 +intronic CRYBB2 chr22 25627502 25627502 C T het . 4 +intergenic CRYBB2(dist=28379),IGLL3P(dist=58009) chr22 25656215 25656215 C T het . 2 +intergenic CRYBB2(dist=31342),IGLL3P(dist=55046) chr22 25659178 25659178 T C het . 2 +intergenic CRYBB2(dist=31352),IGLL3P(dist=55036) chr22 25659188 25659188 C T het . 1 +intergenic CRYBB2(dist=51241),IGLL3P(dist=35147) chr22 25679077 25679077 T C het . 4 +intergenic CRYBB2(dist=72384),IGLL3P(dist=14004) chr22 25700220 25700220 T C het . 2 +ncRNA_exonic IGLL3P chr22 25716068 25716068 C G het . 4 +intergenic IGLL3P(dist=17164),LRP5L(dist=14028) chr22 25733357 25733357 G T het . 5 +intergenic IGLL3P(dist=29701),LRP5L(dist=1491) chr22 25745894 25745894 - TTCT het . 12 +intronic LRP5L chr22 25748718 25748718 A G het . 1 +intronic LRP5L chr22 25749257 25749257 C T het . 4 +intronic LRP5L chr22 25749320 25749320 G A het . 5 +intronic LRP5L chr22 25750814 25750814 - AGGGCA het . 9 +intronic LRP5L chr22 25777338 25777338 G A het . 8 +intergenic LRP5L(dist=15440),CRYBB2P1(dist=51070) chr22 25792984 25792984 G A het . 2 +intergenic LRP5L(dist=21469),CRYBB2P1(dist=45041) chr22 25799013 25799013 T C het . 3 +intergenic LRP5L(dist=21480),CRYBB2P1(dist=45030) chr22 25799024 25799024 T A het . 3 +intergenic LRP5L(dist=29766),CRYBB2P1(dist=36744) chr22 25807310 25807310 C A het . 2 +intergenic LRP5L(dist=60395),CRYBB2P1(dist=6115) chr22 25837939 25837939 - AA het . 2 +intergenic LRP5L(dist=64872),CRYBB2P1(dist=1635) chr22 25842416 25842419 CAAA - het . 3 +upstream CRYBB2P1(dist=33) chr22 25844021 25844021 T C het . 3 +intergenic CRYBB2P1(dist=15498),GRK3(dist=87718) chr22 25873143 25873143 C G het . 2 +intergenic CRYBB2P1(dist=18072),GRK3(dist=85144) chr22 25875717 25875717 G A het . 2 +intergenic CRYBB2P1(dist=38090),GRK3(dist=65126) chr22 25895735 25895735 T C het . 2 +intergenic CRYBB2P1(dist=49215),GRK3(dist=54001) chr22 25906860 25906860 G C het . 2 +intronic MYO18B chr22 26139746 26139746 T C het . 2 +intronic MYO18B chr22 26147490 26147490 G A het . 2 +exonic MYO18B chr22 26157068 26157068 C G het . 13 +intronic MYO18B chr22 26157144 26157144 A G het . 7 +intronic MYO18B chr22 26158985 26158985 C A het . 7 +intronic MYO18B chr22 26159129 26159129 - TT het . 4 +exonic MYO18B chr22 26159289 26159289 G A het . 10 +intronic MYO18B chr22 26163996 26163996 T C het . 3 +intronic MYO18B chr22 26164079 26164079 C T het . 6 +intronic MYO18B chr22 26166011 26166011 C A het . 9 +exonic MYO18B chr22 26166900 26166900 G C het . 20 +exonic MYO18B chr22 26173661 26173661 T C het . 4 +intronic MYO18B chr22 26181594 26181594 T C het . 2 +intronic MYO18B chr22 26185033 26185033 C T het . 2 +intronic MYO18B chr22 26185042 26185042 C T het . 2 +intronic MYO18B chr22 26185720 26185720 C G het . 2 +intronic MYO18B chr22 26185724 26185724 C G het . 2 +intronic MYO18B chr22 26190915 26190915 A G het . 2 +intronic MYO18B chr22 26193824 26193824 C T het . 11 +exonic MYO18B chr22 26193982 26193982 C G het . 14 +exonic MYO18B chr22 26194045 26194045 T C het . 12 +intronic MYO18B chr22 26194093 26194093 G A het . 3 +intronic MYO18B chr22 26197805 26197805 C T het . 2 +intronic MYO18B chr22 26205966 26205966 A - het . 2 +intronic MYO18B chr22 26222505 26222505 G A het . 5 +intronic MYO18B chr22 26228797 26228797 A G het . 7 +exonic MYO18B chr22 26228913 26228913 G A het . 20 +intronic MYO18B chr22 26230640 26230640 C T het . 2 +exonic MYO18B chr22 26239850 26239850 C A het . 6 +intronic MYO18B chr22 26239906 26239906 A G het . 3 +intronic MYO18B chr22 26273834 26273834 A C het . 7 +intronic MYO18B chr22 26273836 26273836 G T het . 7 +intronic MYO18B chr22 26273850 26273850 G C het . 8 +intronic MYO18B chr22 26273889 26273889 C T het . 11 +intronic MYO18B chr22 26273893 26273893 G C het . 11 +intronic MYO18B chr22 26275871 26275871 A C het . 2 +intronic MYO18B chr22 26275888 26275888 G A het . 2 +intronic MYO18B chr22 26275894 26275894 G A het . 2 +intronic MYO18B chr22 26298062 26298062 C G het . 3 +intronic MYO18B chr22 26298754 26298754 G A het . 5 +intronic MYO18B chr22 26298874 26298874 T C het . 2 +intronic MYO18B chr22 26305682 26305682 G A het . 2 +intronic MYO18B chr22 26314062 26314062 C T het . 3 +intronic MYO18B chr22 26317155 26317155 A G het . 4 +intronic MYO18B chr22 26326666 26326666 C T het . 2 +intronic MYO18B chr22 26327728 26327728 C T het . 2 +intronic MYO18B chr22 26342056 26342056 C T het . 3 +intronic MYO18B chr22 26342232 26342232 T C het . 6 +intronic MYO18B chr22 26343593 26343593 A G het . 4 +intronic MYO18B chr22 26343805 26343805 A G het . 12 +intronic MYO18B chr22 26346312 26346312 T - het . 6 +intronic MYO18B chr22 26357022 26357022 G T het . 2 +exonic MYO18B chr22 26422980 26422980 A G het . 9 +intergenic MYO18B(dist=128943),SEZ6L(dist=9490) chr22 26555950 26555950 A G het . 3 +intronic SEZ6L chr22 26612636 26612641 AAAAGA - het . 2 +intronic SEZ6L chr22 26635797 26635797 A G het . 2 +intronic SEZ6L chr22 26639117 26639117 T A het . 2 +intronic SEZ6L chr22 26645377 26645377 G A het . 2 +exonic SEZ6L chr22 26688838 26688838 C T het . 10 +exonic SEZ6L chr22 26689105 26689105 G A het . 6 +intronic SEZ6L chr22 26690407 26690407 T C het . 5 +exonic SEZ6L chr22 26702015 26702015 A C het . 20 +intronic SEZ6L chr22 26706826 26706826 T C het . 4 +intronic SEZ6L chr22 26706885 26706885 T C het . 3 +intronic SEZ6L chr22 26734735 26734735 A G het . 5 +intronic SEZ6L chr22 26734833 26734833 C T het . 3 +intronic SEZ6L chr22 26769308 26769308 C T het . 10 +intronic SEZ6L chr22 26769465 26769465 A - het . 16 +intronic SEZ6L chr22 26771386 26771386 T G het . 2 +intronic SEZ6L chr22 26774580 26774580 A G het . 2 +UTR3 SEZ6L(NM_001184775:c.*764A>G,NM_001184774:c.*764A>G,NM_001184773:c.*764A>G,NM_021115:c.*764A>G,NM_001184777:c.*764A>G,NM_001184776:c.*764A>G) chr22 26777025 26777025 A G het . 2 +UTR3 SEZ6L(NM_001184775:c.*1690T>G,NM_001184774:c.*1690T>G,NM_001184773:c.*1690T>G,NM_021115:c.*1690T>G,NM_001184777:c.*1690T>G,NM_001184776:c.*1690T>G) chr22 26777951 26777951 T G het . 9 +UTR3 SEZ6L(NM_001184775:c.*1816delA,NM_001184774:c.*1816delA,NM_001184773:c.*1816delA,NM_021115:c.*1816delA,NM_001184777:c.*1816delA,NM_001184776:c.*1816delA) chr22 26778077 26778077 A - het . 8 +intergenic SEZ6L(dist=14030),ASPHD2(dist=31687) chr22 26793593 26793593 T C het . 3 +intergenic SEZ6L(dist=25660),ASPHD2(dist=20057) chr22 26805223 26805223 A G het . 3 +intergenic SEZ6L(dist=25664),ASPHD2(dist=20053) chr22 26805227 26805227 T C het . 3 +intergenic SEZ6L(dist=27147),ASPHD2(dist=18570) chr22 26806710 26806710 T G het . 2 +intergenic SEZ6L(dist=39112),ASPHD2(dist=6605) chr22 26818675 26818675 C T het . 8 +intronic ASPHD2 chr22 26830478 26830478 A G het . 2 +intronic ASPHD2 chr22 26831677 26831681 AAAAG - het . 2 +intronic ASPHD2 chr22 26838597 26838597 A G het . 6 +intronic HPS4 chr22 26845446 26845446 G A het . 2 +exonic HPS4 chr22 26853905 26853905 C A het . 36 +intronic HPS4 chr22 26853980 26853980 T C het . 12 +exonic HPS4 chr22 26854441 26854441 G A het . 25 +intronic HPS4 chr22 26854682 26854682 T C het . 3 +intronic HPS4 chr22 26858337 26858337 G T het . 2 +exonic HPS4 chr22 26859942 26859942 C T het . 12 +exonic HPS4 chr22 26860269 26860269 G C het . 9 +intronic HPS4 chr22 26861545 26861545 A G het . 17 +exonic HPS4 chr22 26862041 26862041 G A het . 16 +intronic HPS4 chr22 26862153 26862153 C A het . 18 +exonic HPS4 chr22 26862212 26862212 T C het . 30 +intronic HPS4 chr22 26864658 26864658 A G het . 10 +intronic HPS4 chr22 26867490 26867490 G A het . 6 +intronic HPS4 chr22 26877539 26877539 C T het . 8 +UTR5 HPS4(NM_001349905:c.-253C>T,NM_001349904:c.-253C>T,NM_001349903:c.-253C>T,NM_001349896:c.-253C>T,NM_001349902:c.-253C>T,NM_001349901:c.-253C>T,NM_001349900:c.-253C>T,NM_001349899:c.-253C>T,NM_022081:c.-253C>T,NM_001349898:c.-253C>T) chr22 26877981 26877981 G A het . 4 +exonic SRRD chr22 26884039 26884039 G A het . 14 +exonic SRRD chr22 26886028 26886028 C A het . 13 +intronic SRRD chr22 26886702 26886702 T G het . 2 +intronic SRRD chr22 26886954 26886954 T - het . 19 +intronic SRRD chr22 26887099 26887099 T A het . 13 +intronic TFIP11 chr22 26894985 26894985 C T het . 5 +intronic TFIP11 chr22 26895061 26895061 G A het . 2 +exonic TFIP11 chr22 26895337 26895337 G A het . 7 +intergenic LOC100507599(dist=5510),TPST2(dist=1921) chr22 26916043 26916043 T C het . 2 +intronic TPST2 chr22 26926152 26926152 A G het . 3 +intronic TPST2 chr22 26931875 26931875 G A het . 2 +intronic TPST2 chr22 26933253 26933253 G A het . 3 +intronic TPST2 chr22 26933304 26933304 G A het . 2 +intronic TPST2 chr22 26944512 26944512 A - het . 2 +intronic TPST2 chr22 26944580 26944580 - G het . 3 +ncRNA_exonic MIR548J chr22 26951185 26951185 C G het . 12 +intronic TPST2 chr22 26952508 26952508 A G het . 2 +intronic TPST2 chr22 26956495 26956495 A G het . 14 +intronic TPST2 chr22 26957136 26957136 T C het . 10 +intronic TPST2 chr22 26981879 26981879 T C het . 2 +intergenic TPST2(dist=8170),CRYBB1(dist=1087) chr22 26994275 26994275 C T het . 2 +intronic CRYBB1 chr22 27004089 27004089 A C het . 6 +intronic CRYBA4 chr22 27019128 27019128 C T het . 9 +intronic CRYBA4 chr22 27021401 27021401 G A het . 5 +intronic CRYBA4 chr22 27021425 27021425 A G het . 7 +exonic CRYBA4 chr22 27021457 27021457 T C het . 9 +downstream CRYBA4(dist=611) chr22 27027247 27027247 T C het . 3 +ncRNA_intronic MIAT chr22 27055804 27055804 C T het . 2 +ncRNA_intronic MIATNB chr22 27082723 27082723 A T het . 2 +ncRNA_intronic MIATNB chr22 27136316 27136316 G A het . 1 +intergenic MIATNB(dist=31301),LOC110091768(dist=48017) chr22 27208157 27208157 C T het . 2 +intergenic MIATNB(dist=31309),LOC110091768(dist=48009) chr22 27208165 27208165 C T het . 2 +intergenic MIATNB(dist=69980),LOC110091768(dist=9338) chr22 27246836 27246836 A G het . 2 +ncRNA_intronic LOC110091768 chr22 27268143 27268143 G A het . 2 +intergenic LOC110091768(dist=5541),LINC01422(dist=15966) chr22 27283289 27283289 T C het . 7 +intergenic LINC01422(dist=25412),LOC284898(dist=102121) chr22 27341985 27341985 C G het . 2 +intergenic LINC01422(dist=70487),LOC284898(dist=57046) chr22 27387060 27387060 T G het . 2 +intergenic LINC01422(dist=85919),LOC284898(dist=41614) chr22 27402492 27402492 A G het . 2 +intergenic LINC01422(dist=106434),LOC284898(dist=21099) chr22 27423007 27423007 T A het . 4 +UTR3 LOC284898(NM_001318329:c.*114G>A) chr22 27445883 27445883 C T het . 6 +intergenic LOC284898(dist=14283),LOC105372977(dist=112715) chr22 27470763 27470763 T C het . 2 +intergenic LOC284898(dist=23757),LOC105372977(dist=103241) chr22 27480237 27480237 G A het . 2 +intergenic LOC284898(dist=34112),LOC105372977(dist=92886) chr22 27490592 27490592 G A het . 2 +intergenic LOC284898(dist=38518),LOC105372977(dist=88480) chr22 27494998 27494998 T C het . 1 +intergenic LOC284898(dist=54366),LOC105372977(dist=72632) chr22 27510846 27510846 G A het . 3 +intergenic LOC105372977(dist=24607),LINC01638(dist=7524) chr22 27609784 27609784 - C het . 3 +intergenic LINC01638(dist=41488),LINC02554(dist=44436) chr22 27662176 27662176 G A het . 2 +intergenic LINC01638(dist=41498),LINC02554(dist=44426) chr22 27662186 27662186 T C het . 2 +intergenic LINC02554(dist=42638),MN1(dist=387826) chr22 27756439 27756439 C T het . 2 +intergenic LINC02554(dist=63581),MN1(dist=366883) chr22 27777382 27777382 G A het . 2 +intergenic LINC02554(dist=66093),MN1(dist=364371) chr22 27779894 27779894 T G het . 2 +intergenic LINC02554(dist=66104),MN1(dist=364360) chr22 27779905 27779905 A G het . 2 +intergenic LINC02554(dist=72008),MN1(dist=358456) chr22 27785809 27785809 T C het . 1 +intergenic LINC02554(dist=72022),MN1(dist=358442) chr22 27785823 27785823 A G het . 2 +intergenic LINC02554(dist=108430),MN1(dist=322034) chr22 27822231 27822231 C T het . 2 +intergenic LINC02554(dist=119924),MN1(dist=310540) chr22 27833725 27833725 A T het . 2 +intergenic LINC02554(dist=160358),MN1(dist=270106) chr22 27874159 27874159 T C het . 3 +intergenic LINC02554(dist=166689),MN1(dist=263775) chr22 27880490 27880490 C A het . 3 +intergenic LINC02554(dist=166700),MN1(dist=263764) chr22 27880501 27880501 A T het . 3 +intergenic LINC02554(dist=171135),MN1(dist=259329) chr22 27884936 27884936 T A het . 1 +intergenic LINC02554(dist=171828),MN1(dist=258636) chr22 27885629 27885629 - T het . 3 +intergenic LINC02554(dist=211803),MN1(dist=218661) chr22 27925604 27925604 C G het . 2 +intergenic LINC02554(dist=273162),MN1(dist=157302) chr22 27986963 27986963 - GA het . 2 +intergenic LINC02554(dist=273185),MN1(dist=157279) chr22 27986986 27986986 A G het . 1 +intergenic LINC02554(dist=346233),MN1(dist=84231) chr22 28060034 28060034 G A het . 2 +intergenic LINC02554(dist=374860),MN1(dist=55604) chr22 28088661 28088661 T C het . 2 +intergenic MN1(dist=13174),PITPNB(dist=36997) chr22 28210660 28210660 G A het . 2 +ncRNA_exonic TTC28-AS1 chr22 28320518 28320518 T G het . 3 +ncRNA_exonic TTC28-AS1 chr22 28320527 28320527 C A het . 4 +ncRNA_intronic TTC28-AS1 chr22 28336352 28336352 T - het . 2 +exonic TTC28 chr22 28378688 28378688 C G het . 8 +ncRNA_intronic TTC28-AS1 chr22 28388379 28388379 G A het . 3 +exonic TTC28 chr22 28389453 28389453 T C het . 7 +ncRNA_exonic TTC28-AS1 chr22 28397591 28397591 G T het . 4 +intronic TTC28 chr22 28424993 28424993 C T het . 12 +exonic TTC28 chr22 28504183 28504183 G A het . 6 +exonic TTC28 chr22 28504258 28504258 A G het . 6 +intronic TTC28 chr22 28509461 28509461 C T het . 3 +intronic TTC28 chr22 28566986 28566986 C T het . 1 +intronic TTC28 chr22 28566989 28566989 A T het . 1 +intronic TTC28 chr22 28644881 28644881 A C het . 1 +intronic TTC28 chr22 28654658 28654658 G A het . 2 +intronic TTC28 chr22 28685716 28685716 T A het . 2 +intronic TTC28 chr22 28767868 28767868 C T het . 2 +intronic TTC28 chr22 28767870 28767870 A - het . 2 +intronic TTC28 chr22 28767883 28767883 A T het . 2 +intronic TTC28 chr22 28768520 28768521 TT - het . 2 +intronic TTC28 chr22 28869432 28869432 C T het . 2 +intronic TTC28 chr22 28889735 28889735 C A het . 2 +intronic TTC28 chr22 28895412 28895412 T G het . 2 +intronic TTC28 chr22 28902772 28902772 G A het . 6 +intronic TTC28 chr22 28913950 28913950 C T het . 3 +intronic TTC28 chr22 28999890 28999890 C T het . 2 +intronic TTC28 chr22 29002278 29002278 C T het . 3 +intronic TTC28 chr22 29009939 29009939 A G het . 3 +intronic TTC28 chr22 29028132 29028132 C T het . 2 +intronic TTC28 chr22 29038604 29038604 G A het . 2 +intronic TTC28 chr22 29053727 29053727 T C het . 2 +intronic CHEK2 chr22 29091037 29091037 G C het . 11 +intronic CHEK2 chr22 29092720 29092720 C T het . 4 +intronic CHEK2 chr22 29099754 29099754 T C het . 6 +intronic CHEK2 chr22 29100564 29100564 A G het . 2 +intronic CHEK2 chr22 29112188 29112188 T - het . 3 +intronic CHEK2 chr22 29117625 29117625 A - het . 36 +intronic CHEK2 chr22 29120797 29120797 A G het . 5 +intronic CHEK2 chr22 29125965 29125965 A C het . 2 +intronic CHEK2 chr22 29134719 29134719 G A het . 2 +intronic CHEK2 chr22 29135358 29135358 - T het . 3 +intronic HSCB chr22 29140529 29140529 G A het . 10 +intronic HSCB chr22 29144500 29144500 G T het . 3 +intronic HSCB chr22 29146002 29146002 C T het . 2 +intronic HSCB chr22 29147293 29147293 A G het . 19 +intergenic HSCB(dist=12019),CCDC117(dist=3137) chr22 29165525 29165525 T G het . 3 +intronic CCDC117 chr22 29177200 29177200 C T het . 5 +intronic CCDC117 chr22 29179739 29179739 C A het . 5 +intronic CCDC117 chr22 29182070 29182070 G C het . 4 +intronic XBP1 chr22 29191879 29191879 T C het . 3 +intronic XBP1 chr22 29195877 29195877 T - het . 10 +exonic XBP1 chr22 29196306 29196306 G A het . 9 +intergenic XBP1(dist=26370),ZNRF3(dist=56825) chr22 29222930 29222930 C T het . 2 +intergenic XBP1(dist=28940),ZNRF3(dist=54255) chr22 29225500 29225500 G A het . 2 +intergenic XBP1(dist=59698),ZNRF3(dist=23497) chr22 29256258 29256258 T C het . 2 +intergenic XBP1(dist=65965),ZNRF3(dist=17230) chr22 29262525 29262525 G A het . 2 +intergenic XBP1(dist=75768),ZNRF3(dist=7427) chr22 29272328 29272328 T A het . 2 +exonic ZNRF3 chr22 29279991 29279991 C T het . 4 +intronic ZNRF3 chr22 29294507 29294507 T C het . 3 +intronic ZNRF3 chr22 29316326 29316327 TT - het . 3 +intronic ZNRF3 chr22 29316337 29316337 C A het . 2 +intronic ZNRF3 chr22 29408419 29408419 T C het . 2 +intronic ZNRF3 chr22 29414001 29414001 A G het . 15 +intronic ZNRF3 chr22 29435896 29435896 A G het . 3 +intronic ZNRF3 chr22 29438327 29438327 A T het . 5 +intronic ZNRF3 chr22 29440692 29440692 A C het . 4 +exonic ZNRF3 chr22 29446611 29446611 A C het . 13 +exonic C22orf31 chr22 29456733 29456733 T C het . 23 +exonic KREMEN1 chr22 29469130 29469130 A C het . 2 +intronic KREMEN1 chr22 29503887 29503887 T C het . 2 +UTR3 KREMEN1(NM_001039570:c.*4083delT) chr22 29542183 29542183 T - het . 2 +intronic KREMEN1 chr22 29562853 29562853 T C het . 2 +intronic KREMEN1 chr22 29562893 29562893 G C het . 3 +intergenic KREMEN1(dist=30803),EMID1(dist=6777) chr22 29595124 29595124 - A het . 3 +intergenic KREMEN1(dist=30822),EMID1(dist=6758) chr22 29595143 29595143 - AA het . 4 +intronic EMID1 chr22 29608324 29608324 G A het . 2 +intronic EMID1 chr22 29611652 29611652 C T het . 4 +intronic EMID1 chr22 29640705 29640705 G A het . 3 +intronic EMID1 chr22 29640746 29640746 - AGACG het . 2 +intronic EMID1 chr22 29646550 29646550 - T het . 2 +intronic EMID1 chr22 29647127 29647127 G A het . 2 +intronic EWSR1 chr22 29664360 29664360 T G het . 25 +intronic EWSR1 chr22 29664423 29664423 G A het . 9 +intronic EWSR1 chr22 29669713 29669713 - T het . 8 +intronic EWSR1 chr22 29688632 29688632 T G het . 4 +intronic EWSR1 chr22 29693990 29693990 A G het . 4 +intergenic EWSR1(dist=4174),GAS2L1(dist=2295) chr22 29700689 29700690 TG - het . 2 +exonic GAS2L1 chr22 29707639 29707639 - C het . 6 +exonic GAS2L1 chr22 29707955 29707955 A T het . 15 +UTR5 RASL10A(NM_006477:c.-16A>G) chr22 29711251 29711251 T C het . 4 +intronic AP1B1 chr22 29725893 29725893 T C het . 2 +exonic AP1B1 chr22 29727866 29727866 C T het . 3 +intronic AP1B1 chr22 29734696 29734696 T G het . 2 +intronic AP1B1 chr22 29753052 29753055 TTTT - het . 2 +exonic AP1B1 chr22 29755888 29755888 T C het . 12 +intronic AP1B1 chr22 29762714 29762714 A G het . 2 +intronic AP1B1 chr22 29769089 29769089 A T het . 3 +intronic AP1B1 chr22 29770549 29770549 A - het . 2 +intronic AP1B1 chr22 29773325 29773325 T C het . 3 +intergenic AP1B1(dist=1925),RFPL1S(dist=46507) chr22 29786497 29786497 C T het . 2 +intergenic AP1B1(dist=7258),RFPL1S(dist=41174) chr22 29791830 29791830 T C het . 2 +intergenic AP1B1(dist=18020),RFPL1S(dist=30412) chr22 29802592 29802592 A G het . 2 +ncRNA_exonic RFPL1S chr22 29834766 29834766 A G het . 5 +intergenic RFPL1(dist=4282),NEFH(dist=33455) chr22 29842726 29842726 T - het . 2 +intergenic RFPL1(dist=7770),NEFH(dist=29967) chr22 29846214 29846214 - G het . 3 +intergenic RFPL1(dist=9584),NEFH(dist=28150) chr22 29848028 29848031 TTCT - het . 3 +intergenic RFPL1(dist=10040),NEFH(dist=27697) chr22 29848484 29848484 T G het . 1 +intergenic RFPL1(dist=17635),NEFH(dist=20102) chr22 29856079 29856079 G A het . 3 +intergenic RFPL1(dist=30411),NEFH(dist=7326) chr22 29868855 29868855 G C het . 2 +exonic NEFH chr22 29876654 29876654 C A het . 18 +exonic NEFH chr22 29881828 29881828 C T het . 23 +intronic NEFH chr22 29881884 29881884 G A het . 19 +exonic NEFH chr22 29886043 29886043 A C het . 39 +exonic NEFH chr22 29886413 29886413 A G het . 7 +intronic THOC5 chr22 29913395 29913395 C A het . 15 +intronic THOC5 chr22 29940949 29940949 G A het . 4 +intronic THOC5 chr22 29941028 29941028 A G het . 8 +intronic THOC5 chr22 29942398 29942398 - TTTTC het . 3 +intronic NIPSNAP1 chr22 29957013 29957013 C T het . 3 +intronic NIPSNAP1 chr22 29957321 29957321 G A het . 16 +intronic NIPSNAP1 chr22 29957911 29957911 T C het . 2 +intronic NIPSNAP1 chr22 29960335 29960335 A G het . 19 +intronic NIPSNAP1 chr22 29965168 29965168 G C het . 11 +intronic NIPSNAP1 chr22 29966083 29966083 C T het . 8 +intronic NIPSNAP1 chr22 29966317 29966317 C G het . 11 +UTR5 NF2(NM_181829:c.-110G>C,NM_181830:c.-110G>C,NM_181831:c.-110G>C,NM_181833:c.-110G>C,NM_181832:c.-110G>C,NM_181828:c.-110G>C,NM_181825:c.-110G>C,NM_016418:c.-110G>C,NM_000268:c.-110G>C) chr22 29999878 29999878 G C het . 3 +intronic NF2 chr22 30034994 30034994 G T het . 11 +intronic NF2 chr22 30035021 30035021 G A het . 13 +intronic NF2 chr22 30051433 30051433 C T het . 11 +intronic NF2 chr22 30051706 30051707 TT - het . 11 +intronic NF2 chr22 30077361 30077361 G A het . 17 +UTR3 CABP7(NM_182527:c.*38C>T) chr22 30125596 30125596 C T het . 4 +UTR3 CABP7(NM_182527:c.*62G>A) chr22 30125620 30125620 G A het . 2 +UTR3 CABP7(NM_182527:c.*1809G>T) chr22 30127367 30127367 G T het . 3 +intronic ZMAT5 chr22 30138497 30138497 G A het . 9 +upstream UQCR10,ZMAT5(dist=26) chr22 30163332 30163332 G A het . 8 +exonic UQCR10 chr22 30163420 30163420 C A het . 12 +exonic UQCR10 chr22 30163526 30163526 A G het . 14 +UTR3 ASCC2(NM_032204:c.*52T>C,NM_001242906:c.*52T>C) chr22 30184950 30184950 A G het . 5 +intronic ASCC2 chr22 30202774 30202774 G C het . 18 +intronic ASCC2 chr22 30202984 30202984 T C het . 7 +intronic ASCC2 chr22 30218270 30218270 T C het . 6 +intronic ASCC2 chr22 30222678 30222678 C T het . 2 +intronic ASCC2 chr22 30223584 30223584 A G het . 17 +intronic ASCC2 chr22 30225690 30225690 A - het . 3 +intronic ASCC2 chr22 30229399 30229399 C G het . 2 +intronic MTMR3 chr22 30291197 30291197 A - het . 3 +intronic MTMR3 chr22 30291445 30291445 C A het . 15 +intronic MTMR3 chr22 30328070 30328070 T C het . 2 +intronic MTMR3 chr22 30394623 30394623 T C het . 6 +intronic MTMR3 chr22 30398733 30398733 T - het . 2 +intronic MTMR3 chr22 30399000 30399000 A G het . 7 +ncRNA_exonic HORMAD2-AS1 chr22 30405151 30405151 T C het . 7 +ncRNA_intronic HORMAD2-AS1 chr22 30407364 30407364 G A het . 3 +ncRNA_intronic HORMAD2-AS1 chr22 30407388 30407388 C G het . 3 +ncRNA_intronic HORMAD2-AS1 chr22 30413339 30413339 C T het . 2 +ncRNA_intronic HORMAD2-AS1 chr22 30418161 30418161 A C het . 6 +ncRNA_intronic HORMAD2-AS1 chr22 30442992 30442992 A G het . 5 +ncRNA_intronic HORMAD2-AS1 chr22 30460434 30460434 G T het . 2 +intronic HORMAD2 chr22 30519414 30519414 G A het . 2 +intronic HORMAD2 chr22 30533065 30533065 A G het . 3 +intronic HORMAD2 chr22 30539427 30539427 T C het . 2 +intronic HORMAD2 chr22 30559680 30559680 A G het . 2 +intergenic HORMAD2(dist=42774),LIF-AS1(dist=19345) chr22 30615838 30615838 A G het . 2 +intergenic OSM(dist=2421),CASTOR1(dist=15854) chr22 30665253 30665253 G A het . 2 +intronic TBC1D10A chr22 30714684 30714684 A C het . 10 +intronic SF3A1 chr22 30738161 30738161 C T het . 13 +intronic SF3A1 chr22 30738737 30738737 G A het . 11 +intronic SF3A1 chr22 30742623 30742623 T G het . 3 +UTR5 CCDC157(NM_001318334:c.-9294G>T,NM_001318335:c.-9294G>T,NM_001017437:c.-9294G>T) chr22 30752696 30752696 G T het . 5 +intronic CCDC157 chr22 30757295 30757295 A G het . 2 +exonic CCDC157 chr22 30766527 30766527 C T het . 26 +ncRNA_exonic KIAA1656 chr22 30770603 30770603 T A het . 17 +ncRNA_exonic KIAA1656 chr22 30770893 30770893 G - het . 3 +exonic CCDC157 chr22 30771554 30771554 T G het . 21 +exonic CCDC157 chr22 30772686 30772686 C T het . 12 +intronic RNF215 chr22 30776419 30776419 T C het . 3 +exonic RNF215 chr22 30782089 30782089 A G het . 13 +exonic SEC14L2 chr22 30793137 30793137 G A het . 4 +intronic SEC14L2 chr22 30793817 30793817 C T het . 8 +intronic SEC14L2 chr22 30794719 30794719 C T het . 12 +intronic SEC14L2 chr22 30795742 30795742 G C het . 9 +intronic SEC14L2 chr22 30802444 30802444 C T het . 6 +intronic SEC14L2 chr22 30803289 30803289 G C het . 4 +UTR3 SEC14L2(NM_033382:c.*59C>G) chr22 30812549 30812549 C G het . 4 +UTR3 SEC14L2(NM_012429:c.*2154C>T,NM_001204204:c.*2154C>T,NM_001291932:c.*2154C>T) chr22 30820550 30820550 C T het . 2 +intronic MTFP1 chr22 30823065 30823065 G A het . 7 +intronic MTFP1 chr22 30823104 30823104 C T het . 19 +exonic MTFP1 chr22 30823196 30823196 T C het . 19 +intergenic LOC105372990(dist=11007),SEC14L3(dist=11721) chr22 30843495 30843495 G A het . 2 +intergenic LOC105372990(dist=15536),SEC14L3(dist=7192) chr22 30848024 30848024 G A het . 2 +UTR3 SEC14L3(NM_001257379:c.*107C>T,NM_174975:c.*107C>T,NM_001257378:c.*107C>T,NM_001257382:c.*107C>T) chr22 30855901 30855901 G A het . 2 +UTR3 SEC14L3(NM_001257379:c.*83T>C,NM_174975:c.*83T>C,NM_001257378:c.*83T>C,NM_001257382:c.*83T>C) chr22 30855925 30855925 A G het . 4 +exonic SEC14L3 chr22 30857373 30857373 A C het . 6 +exonic SEC14L3 chr22 30857448 30857448 A G het . 11 +exonic SEC14L3 chr22 30860830 30860830 C T het . 20 +intronic SEC14L3 chr22 30861640 30861640 C T het . 3 +intronic SEC14L3 chr22 30861662 30861662 G A het . 2 +intronic SEC14L3 chr22 30861855 30861855 T C het . 2 +intronic SEC14L3 chr22 30862146 30862146 C A het . 2 +intronic SEC14L3 chr22 30862400 30862400 T A het . 17 +exonic SEC14L3 chr22 30864610 30864610 A G het . 9 +exonic SEC14L3 chr22 30864655 30864655 A G het . 5 +intronic SEC14L3 chr22 30864692 30864692 G A het . 7 +intronic SEC14L3 chr22 30864720 30864720 C T het . 6 +UTR5 SEC14L3(NM_001257378:c.-39T>C) chr22 30864817 30864817 A G het . 5 +intronic SEC14L3 chr22 30866380 30866380 T C het . 2 +UTR3 SEC14L4(NM_174977:c.*102C>T) chr22 30885992 30885992 G A het . 7 +intronic SEC14L4 chr22 30888206 30888206 C A het . 5 +intronic SEC14L4 chr22 30888234 30888234 C G het . 3 +intronic SEC14L4 chr22 30888329 30888329 C A het . 5 +intronic SEC14L4 chr22 30888412 30888412 C T het . 10 +exonic SEC14L4 chr22 30888492 30888492 C G het . 15 +intronic SEC14L4 chr22 30891968 30891970 GAG - het . 15 +exonic SEC14L4 chr22 30901592 30901592 T C het . 9 +intergenic SEC14L4(dist=4496),SEC14L6(dist=12581) chr22 30906194 30906194 A G het . 2 +downstream SEC14L6(dist=668) chr22 30918107 30918107 A G het . 2 +UTR3 SEC14L6(NM_001353443:c.*89A>G,NM_001353441:c.*19A>G,NM_001193336:c.*19A>G) chr22 30920965 30920965 T C het . 9 +intronic SEC14L6 chr22 30921294 30921294 C T het . 3 +intronic SEC14L6 chr22 30921298 30921298 C A het . 4 +exonic SEC14L6 chr22 30921371 30921371 T C het . 8 +intronic SEC14L6 chr22 30925390 30925390 C A het . 8 +exonic SEC14L6 chr22 30927957 30927957 G C het . 19 +exonic SEC14L6 chr22 30927975 30927975 C T het . 22 +intronic SEC14L6 chr22 30930080 30930080 T A het . 2 +intronic SEC14L6 chr22 30930158 30930158 T C het . 2 +exonic SEC14L6 chr22 30934816 30934816 T C het . 6 +exonic SEC14L6 chr22 30934885 30934885 C T het . 8 +exonic SEC14L6 chr22 30934887 30934887 G A het . 8 +intronic SEC14L6 chr22 30938629 30938629 C T het . 9 +intronic SEC14L6 chr22 30938658 30938658 C G het . 6 +intronic SEC14L6 chr22 30938712 30938712 G T het . 7 +intronic SEC14L6 chr22 30939168 30939168 G C het . 22 +intronic SEC14L6 chr22 30940131 30940131 G A het . 3 +intronic SEC14L6 chr22 30942537 30942537 T C het . 6 +intronic SEC14L6 chr22 30942539 30942539 A G het . 6 +upstream SEC14L6(dist=29) chr22 30942698 30942698 T C het . 9 +exonic GAL3ST1 chr22 30951948 30951948 G A het . 21 +exonic GAL3ST1 chr22 30953280 30953280 C T het . 7 +intronic PES1 chr22 30975119 30975119 C A het . 10 +intronic PES1 chr22 30983971 30983971 G A het . 10 +UTR5 PES1(NM_001243225:c.-41C>G,NM_014303:c.-41C>G) chr22 30987861 30987861 G C het . 13 +intronic TCN2 chr22 31009118 31009118 T A het . 7 +intronic TCN2 chr22 31010242 31010242 G C het . 6 +intronic TCN2 chr22 31010649 31010649 T C het . 3 +exonic TCN2 chr22 31011350 31011350 C T het . 16 +intronic TCN2 chr22 31011557 31011557 T C het . 6 +exonic TCN2 chr22 31011610 31011610 G C het . 12 +intronic TCN2 chr22 31011882 31011882 A T het . 7 +intronic TCN2 chr22 31011906 31011906 C T het . 5 +intronic TCN2 chr22 31013296 31013296 G A het . 26 +intronic TCN2 chr22 31013549 31013549 G A het . 9 +intronic TCN2 chr22 31015938 31015938 T C het . 2 +intronic TCN2 chr22 31017457 31017457 - TTA het . 1 +intronic TCN2 chr22 31018777 31018777 G A het . 7 +intronic TCN2 chr22 31018817 31018817 C T het . 9 +intronic TCN2 chr22 31018884 31018884 G C het . 19 +intronic TCN2 chr22 31022272 31022272 G A het . 2 +UTR3 TCN2(NM_001184726:c.*82C>T,NM_000355:c.*82C>T) chr22 31022590 31022590 C T het . 6 +intergenic TCN2(dist=3531),SLC35E4(dist=5224) chr22 31026578 31026578 G A het . 2 +exonic SLC35E4 chr22 31032836 31032836 G A het . 15 +exonic SLC35E4 chr22 31032920 31032920 A G het . 17 +intronic DUSP18,SLC35E4 chr22 31056343 31056343 A T het . 3 +UTR3 DUSP18(NM_001304796:c.*1937delA,NM_001304794:c.*1834delA,NM_152511:c.*1834delA) chr22 31057590 31057590 T - het . 2 +UTR5 DUSP18(NM_001304795:c.-39C>G,NM_001304796:c.-39C>G,NM_001304794:c.-39C>G,NM_152511:c.-39C>G) chr22 31060029 31060029 G C het . 5 +exonic SLC35E4 chr22 31061506 31061506 G C het . 7 +downstream SLC35E4(dist=64) chr22 31065067 31065067 C T het . 2 +intergenic SLC35E4(dist=4554),OSBP2(dist=20212) chr22 31069557 31069557 T C het . 2 +UTR5 OSBP2(NM_001282738:c.-90_-89insA) chr22 31089958 31089958 - A het . 10 +intronic OSBP2 chr22 31090067 31090067 - CCACAACTA het . 22 +intronic OSBP2 chr22 31090183 31090183 C A het . 23 +intronic OSBP2 chr22 31107851 31107851 T C het . 2 +intronic OSBP2 chr22 31115139 31115139 A C het . 2 +intronic OSBP2 chr22 31127018 31127018 A G het . 2 +intronic OSBP2 chr22 31133077 31133077 G A het . 2 +intronic OSBP2 chr22 31238756 31238756 - TTCT het . 4 +exonic OSBP2 chr22 31266546 31266546 T C het . 15 +ncRNA_intronic LOC107985544 chr22 31301734 31301734 - GG het . 2 +ncRNA_intronic LOC107985544 chr22 31302144 31302144 C A het . 8 +intronic MORC2 chr22 31354868 31354868 C T het . 3 +intergenic TUG1(dist=29811),SMTN(dist=72091) chr22 31405191 31405191 T C het . 2 +intergenic TUG1(dist=64179),SMTN(dist=37723) chr22 31439559 31439559 G A het . 2 +exonic PLA2G3 chr22 31536133 31536133 A C het . 7 +intronic RNF185 chr22 31583007 31583007 A G het . 3 +intronic RNF185 chr22 31597410 31597410 G A het . 17 +intronic RNF185 chr22 31600460 31600460 T C het . 11 +exonic LIMK2 chr22 31621792 31621792 G A het . 12 +UTR5 LIMK2(NM_016733:c.-89C>T,NM_001031801:c.-89C>T) chr22 31644614 31644614 C T het . 25 +intronic LIMK2 chr22 31658281 31658281 A G het . 3 +intronic LIMK2 chr22 31663066 31663066 T C het . 4 +exonic LIMK2 chr22 31663842 31663842 C G het . 11 +intronic LIMK2 chr22 31672752 31672752 A C het . 8 +UTR3 PIK3IP1(NM_052880:c.*112G>C,NM_001135911:c.*303G>C) chr22 31678958 31678958 C G het . 3 +exonic PIK3IP1 chr22 31679110 31679110 G C het . 19 +intronic PIK3IP1 chr22 31679287 31679290 AAAC - het . 16 +intronic PIK3IP1 chr22 31685129 31685129 C T het . 4 +intronic PIK3IP1 chr22 31685203 31685203 C A het . 14 +intronic PIK3IP1 chr22 31687142 31687142 G C het . 11 +intronic PIK3IP1 chr22 31687313 31687313 A G het . 15 +intronic PATZ1 chr22 31724973 31724973 A - het . 3 +exonic PATZ1 chr22 31741067 31741067 G A het . 11 +ncRNA_exonic LINC01521 chr22 31744721 31744721 T C het . 2 +intergenic LINC01521(dist=26042),DRG1(dist=22356) chr22 31773183 31773183 T C het . 2 +intergenic LINC01521(dist=28165),DRG1(dist=20230) chr22 31775306 31775309 AAAC - het . 4 +intronic DRG1 chr22 31795866 31795866 T C het . 3 +intronic DRG1 chr22 31796897 31796897 A C het . 2 +exonic DRG1 chr22 31807042 31807042 A G het . 23 +intronic DRG1 chr22 31819142 31819142 C T het . 5 +intronic DRG1 chr22 31819212 31819212 A G het . 8 +intronic EIF4ENIF1 chr22 31843567 31843567 G C het . 7 +intronic EIF4ENIF1 chr22 31844293 31844293 A C het . 2 +intronic EIF4ENIF1 chr22 31884405 31884405 T C het . 3 +intronic SFI1 chr22 31896825 31896825 A G het . 2 +intronic SFI1 chr22 31904170 31904170 A G het . 22 +intronic SFI1 chr22 31917415 31917415 A G het . 2 +intronic SFI1 chr22 31926725 31926725 C T het . 1 +intronic SFI1 chr22 31942770 31942770 G A het . 7 +exonic SFI1 chr22 31971258 31971258 T C het . 8 +intronic SFI1 chr22 31985385 31985385 - A het . 7 +exonic SFI1 chr22 31998612 31998612 G A het . 7 +exonic SFI1 chr22 32000872 32000872 G A het . 10 +intronic SFI1 chr22 32002294 32002294 T C het . 4 +intergenic PISD(dist=4562),PRR14L(dist=14222) chr22 32063112 32063112 A T het . 2 +intronic PRR14L chr22 32084131 32084131 T G het . 17 +intronic PRR14L chr22 32097775 32097775 T C het . 11 +intronic DEPDC5 chr22 32179850 32179850 G C het . 5 +intronic DEPDC5 chr22 32187906 32187906 C A het . 4 +exonic DEPDC5 chr22 32211412 32211412 A C het . 2 +intronic DEPDC5 chr22 32281880 32281880 T C het . 2 +intronic DEPDC5 chr22 32302086 32302086 T G het . 2 +exonic C22orf24 chr22 32334229 32334229 A C het . 12 +intronic C22orf24 chr22 32336264 32336264 T C het . 2 +intronic C22orf24,YWHAH chr22 32340838 32340838 G - het . 7 +intronic YWHAH chr22 32343613 32343613 - CTCT het . 3 +intronic YWHAH chr22 32346468 32346468 G A het . 5 +UTR3 YWHAH(NM_003405:c.*12G>A) chr22 32352791 32352791 G A het . 4 +ncRNA_intronic LINC02558 chr22 32376977 32376978 TT - het . 2 +ncRNA_intronic LINC02558 chr22 32391904 32391904 A G het . 2 +ncRNA_intronic LINC02558 chr22 32397183 32397183 A G het . 2 +ncRNA_intronic LINC02558 chr22 32406766 32406766 G C het . 3 +ncRNA_intronic LINC02558 chr22 32409316 32409316 T - het . 2 +exonic SLC5A1 chr22 32445946 32445946 A G het . 28 +intronic SLC5A1 chr22 32447582 32447582 A G het . 2 +intronic SLC5A1 chr22 32478972 32478972 - G het . 6 +intronic SLC5A1 chr22 32482128 32482128 A - het . 15 +intronic SLC5A1 chr22 32482321 32482321 T G het . 21 +exonic SLC5A1 chr22 32487700 32487700 G A het . 42 +exonic SLC5A1 chr22 32487744 32487744 C T het . 37 +intronic SLC5A1 chr22 32487815 32487815 C G het . 24 +intronic SLC5A1 chr22 32505773 32505773 C T het . 12 +exonic SLC5A1 chr22 32506041 32506041 A G het . 16 +exonic SLC5A1 chr22 32506050 32506050 C G het . 19 +exonic SLC5A1 chr22 32506143 32506143 C T het . 31 +intronic C22orf42 chr22 32545639 32545639 T - het . 15 +intronic C22orf42 chr22 32545641 32545641 T - het . 15 +exonic C22orf42 chr22 32545762 32545762 C T het . 8 +intronic C22orf42 chr22 32545789 32545789 C T het . 7 +intronic C22orf42 chr22 32546946 32546946 C T het . 15 +exonic C22orf42 chr22 32554985 32554985 A G het . 15 +exonic C22orf42 chr22 32554996 32554996 C T het . 13 +intergenic C22orf42(dist=15117),RFPL2(dist=16023) chr22 32570396 32570399 AAAT - het . 2 +intergenic C22orf42(dist=24271),RFPL2(dist=6872) chr22 32579550 32579550 T C het . 17 +intergenic C22orf42(dist=24280),RFPL2(dist=6863) chr22 32579559 32579559 A G het . 16 +intergenic C22orf42(dist=24397),RFPL2(dist=6746) chr22 32579676 32579676 A G het . 6 +intergenic C22orf42(dist=24472),RFPL2(dist=6671) chr22 32579751 32579751 C G het . 4 +intergenic C22orf42(dist=29222),RFPL2(dist=1921) chr22 32584501 32584501 T A het . 8 +intergenic C22orf42(dist=29359),RFPL2(dist=1784) chr22 32584638 32584638 C T het . 3 +exonic RFPL2 chr22 32589023 32589023 C T het . 24 +exonic RFPL2 chr22 32589034 32589034 T C het . 24 +exonic RFPL2 chr22 32590449 32590449 G A het . 14 +ncRNA_exonic SLC5A4-AS1 chr22 32665756 32665756 C A het . 4 +ncRNA_exonic SLC5A4-AS1 chr22 32665789 32665789 C T het . 9 +ncRNA_exonic SLC5A4-AS1 chr22 32667191 32667191 T G het . 15 +ncRNA_exonic SLC5A4-AS1 chr22 32667507 32667507 G A het . 11 +ncRNA_exonic SLC5A4-AS1 chr22 32667573 32667573 T C het . 3 +ncRNA_exonic SLC5A4-AS1 chr22 32668371 32668371 G A het . 15 +ncRNA_exonic SLC5A4-AS1 chr22 32668527 32668527 T G het . 6 +intergenic SLC5A4-AS1(dist=16497),RFPL3(dist=64773) chr22 32686099 32686099 G C het . 3 +intergenic SLC5A4-AS1(dist=34629),RFPL3(dist=46641) chr22 32704231 32704231 C G het . 2 +intergenic SLC5A4-AS1(dist=47401),RFPL3(dist=33869) chr22 32717003 32717003 G A het . 2 +intergenic SLC5A4-AS1(dist=71521),RFPL3(dist=9749) chr22 32741123 32741123 T C het . 2 +intergenic SLC5A4-AS1(dist=76351),RFPL3(dist=4919) chr22 32745953 32745953 A G het . 2 +exonic RFPL3 chr22 32756744 32756744 A G het . 6 +ncRNA_intronic RFPL3S chr22 32764388 32764388 T C het . 12 +ncRNA_intronic LOC339666 chr22 32773914 32773916 CTA - het . 2 +intronic RTCB chr22 32790102 32790103 TT - het . 6 +exonic RTCB chr22 32795641 32795641 C T het . 19 +intronic RTCB chr22 32804313 32804313 G A het . 14 +exonic RTCB chr22 32808078 32808078 G A het . 14 +upstream RTCB(dist=81) chr22 32808355 32808355 A G het . 2 +exonic BPIFC chr22 32810378 32810378 T G het . 12 +exonic BPIFC chr22 32811952 32811952 A G het . 13 +intronic BPIFC chr22 32813177 32813180 TTTT - het . 11 +intronic BPIFC chr22 32815398 32815398 G A het . 18 +intronic BPIFC chr22 32822285 32822285 C T het . 2 +exonic BPIFC chr22 32831711 32831711 C G het . 15 +intronic BPIFC chr22 32843436 32843436 C T het . 8 +UTR5 FBXO7(NM_001033024:c.-122C>T,NM_001257990:c.-3961C>T) chr22 32871227 32871227 C T het . 6 +exonic FBXO7 chr22 32871383 32871383 T G het . 22 +intronic FBXO7 chr22 32871442 32871442 C A het . 13 +exonic FBXO7 chr22 32875190 32875190 G A het . 27 +intronic FBXO7 chr22 32875389 32875389 T - het . 4 +intronic FBXO7 chr22 32884036 32884036 T A het . 9 +intronic FBXO7 chr22 32886998 32886998 T C het . 21 +exonic FBXO7 chr22 32887150 32887150 C T het . 38 +intronic SYN3 chr22 32937740 32937740 T C het . 3 +intronic SYN3 chr22 32941967 32941967 G C het . 2 +intronic SYN3 chr22 32965049 32965049 G A het . 2 +intronic SYN3 chr22 32977216 32977216 T C het . 2 +intronic SYN3 chr22 32991307 32991307 T A het . 2 +intronic SYN3 chr22 33048216 33048216 T G het . 2 +intronic SYN3 chr22 33095587 33095587 - C het . 2 +intronic SYN3 chr22 33097419 33097419 A G het . 2 +intronic SYN3 chr22 33125088 33125088 G T het . 2 +intronic SYN3 chr22 33151710 33151710 T C het . 2 +intronic SYN3 chr22 33152045 33152045 C T het . 2 +intronic SYN3 chr22 33153347 33153347 A G het . 2 +intronic SYN3 chr22 33166227 33166227 C A het . 2 +intronic SYN3 chr22 33173231 33173231 G A het . 2 +intronic SYN3 chr22 33178060 33178060 T - het . 3 +intronic SYN3 chr22 33184323 33184323 C T het . 2 +intronic SYN3 chr22 33186665 33186665 G A het . 2 +intronic SYN3,TIMP3 chr22 33229685 33229685 T C het . 4 +intronic SYN3,TIMP3 chr22 33229830 33229830 A G het . 20 +intronic SYN3,TIMP3 chr22 33232691 33232691 A - het . 3 +intronic SYN3,TIMP3 chr22 33245622 33245622 C A het . 7 +intronic SYN3 chr22 33292446 33292446 T A het . 2 +intronic SYN3 chr22 33293908 33293908 T C het . 2 +intronic SYN3 chr22 33303706 33303706 G C het . 2 +intronic SYN3 chr22 33317196 33317196 A G het . 2 +intronic SYN3 chr22 33336039 33336039 G T het . 2 +intronic SYN3 chr22 33389738 33389738 C T het . 2 +intronic SYN3 chr22 33401355 33401355 T C het . 2 +intronic SYN3 chr22 33404758 33404758 T A het . 2 +intronic SYN3 chr22 33411227 33411227 A T het . 2 +intronic SYN3 chr22 33411446 33411446 G A het . 8 +intronic SYN3 chr22 33413096 33413096 A C het . 2 +intronic SYN3 chr22 33422090 33422090 G C het . 2 +intergenic SYN3(dist=6115),LINC01640(dist=44023) chr22 33460492 33460492 G A het . 2 +intergenic SYN3(dist=31085),LINC01640(dist=19053) chr22 33485462 33485462 C T het . 8 +intergenic SYN3(dist=31287),LINC01640(dist=18851) chr22 33485664 33485664 A G het . 3 +intergenic LINC01640(dist=16350),LARGE1(dist=139882) chr22 33528630 33528630 A G het . 3 +intergenic LINC01640(dist=16430),LARGE1(dist=139802) chr22 33528710 33528710 T C het . 2 +intergenic LINC01640(dist=19563),LARGE1(dist=136669) chr22 33531843 33531843 - AAAAT het . 2 +intergenic LINC01640(dist=22815),LARGE1(dist=133417) chr22 33535095 33535095 T A het . 2 +intergenic LINC01640(dist=25154),LARGE1(dist=131078) chr22 33537434 33537434 C G het . 2 +intergenic LINC01640(dist=50607),LARGE1(dist=105625) chr22 33562887 33562887 G T het . 4 +intergenic LINC01640(dist=80384),LARGE1(dist=75848) chr22 33592664 33592664 T A het . 3 +intergenic LINC01640(dist=84548),LARGE1(dist=71684) chr22 33596828 33596828 G T het . 2 +intergenic LINC01640(dist=122816),LARGE1(dist=33415) chr22 33635096 33635097 AA - het . 2 +intronic LARGE1 chr22 33746624 33746624 G A het . 2 +intronic LARGE1 chr22 33752032 33752032 - C het . 2 +intronic LARGE1 chr22 33811677 33811677 A G het . 2 +intronic LARGE1 chr22 33835517 33835517 A T het . 2 +intronic LARGE1 chr22 33892590 33892590 T C het . 2 +intronic LARGE1 chr22 33960676 33960676 A G het . 2 +intronic LARGE1 chr22 33969514 33969514 A G het . 4 +intronic LARGE1 chr22 34000282 34000282 C G het . 3 +intronic LARGE1 chr22 34061888 34061888 A - het . 2 +intronic LARGE1 chr22 34157306 34157306 C A het . 31 +UTR5 LARGE1(NM_004737:c.-63C>T,NM_133642:c.-63C>T,NM_001362953:c.-63C>T,NM_001362951:c.-63C>T,NM_001362949:c.-63C>T) chr22 34157526 34157526 G A het . 12 +intronic LARGE1 chr22 34192621 34192621 C T het . 3 +intronic LARGE1 chr22 34204203 34204203 C T het . 2 +intronic LARGE1 chr22 34234463 34234463 C A het . 2 +intronic LARGE1 chr22 34241811 34241811 G A het . 2 +intronic LARGE1 chr22 34241862 34241862 G A het . 2 +intronic LARGE1 chr22 34281940 34281940 C A het . 2 +intergenic LARGE1(dist=18474),ISX-AS1(dist=815306) chr22 34337350 34337350 - T het . 2 +intergenic LARGE1(dist=21571),ISX-AS1(dist=812209) chr22 34340447 34340447 G A het . 2 +intergenic LARGE1(dist=147382),ISX-AS1(dist=686398) chr22 34466258 34466258 G A het . 2 +intergenic LARGE1(dist=155823),ISX-AS1(dist=677957) chr22 34474699 34474699 C A het . 2 +intergenic LARGE1(dist=216444),ISX-AS1(dist=617332) chr22 34535320 34535324 CTATT - het . 2 +intergenic LARGE1(dist=356513),ISX-AS1(dist=477266) chr22 34675389 34675390 CC AA het . 2 +intergenic LARGE1(dist=367754),ISX-AS1(dist=466026) chr22 34686630 34686630 A T het . 2 +intergenic LARGE1(dist=372683),ISX-AS1(dist=461097) chr22 34691559 34691559 A G het . 1 +intergenic LARGE1(dist=417054),ISX-AS1(dist=416726) chr22 34735930 34735930 C T het . 3 +intergenic LARGE1(dist=426020),ISX-AS1(dist=407760) chr22 34744896 34744896 T - het . 2 +intergenic LARGE1(dist=426030),ISX-AS1(dist=407750) chr22 34744906 34744906 T C het . 2 +intergenic LARGE1(dist=429288),ISX-AS1(dist=404492) chr22 34748164 34748164 G T het . 2 +intergenic LARGE1(dist=468087),ISX-AS1(dist=365693) chr22 34786963 34786963 T C het . 2 +intergenic LARGE1(dist=471665),ISX-AS1(dist=362115) chr22 34790541 34790541 A T het . 2 +intergenic LARGE1(dist=472058),ISX-AS1(dist=361722) chr22 34790934 34790934 T C het . 2 +intergenic LARGE1(dist=475815),ISX-AS1(dist=357965) chr22 34794691 34794691 C T het . 2 +intergenic LARGE1(dist=623095),ISX-AS1(dist=210685) chr22 34941971 34941971 A G het . 2 +intergenic LARGE1(dist=645761),ISX-AS1(dist=188019) chr22 34964637 34964637 A G het . 2 +intergenic LARGE1(dist=646079),ISX-AS1(dist=187701) chr22 34964955 34964955 A G het . 2 +intergenic LARGE1(dist=651964),ISX-AS1(dist=181816) chr22 34970840 34970840 A T het . 2 +intergenic LARGE1(dist=654188),ISX-AS1(dist=179592) chr22 34973064 34973064 T C het . 2 +intergenic LARGE1(dist=667524),ISX-AS1(dist=166256) chr22 34986400 34986400 G T het . 16 +intergenic LARGE1(dist=727144),ISX-AS1(dist=106636) chr22 35046020 35046020 A G het . 2 +intergenic LARGE1(dist=728819),ISX-AS1(dist=104960) chr22 35047695 35047696 GG CC het . 2 +intergenic LARGE1(dist=743143),ISX-AS1(dist=90637) chr22 35062019 35062019 G A het . 2 +intergenic LARGE1(dist=763709),ISX-AS1(dist=70071) chr22 35082585 35082585 - TTTG het . 2 +intergenic LARGE1(dist=768306),ISX-AS1(dist=65474) chr22 35087182 35087182 C T het . 2 +ncRNA_intronic ISX-AS1 chr22 35185141 35185141 C T het . 2 +ncRNA_intronic ISX-AS1 chr22 35185844 35185844 G A het . 2 +ncRNA_intronic ISX-AS1 chr22 35195774 35195774 A G het . 2 +ncRNA_intronic ISX-AS1 chr22 35325343 35325343 - TTTTC het . 1 +ncRNA_intronic ISX-AS1 chr22 35333474 35333474 C T het . 2 +ncRNA_intronic ISX-AS1 chr22 35339732 35339732 T C het . 2 +intergenic ISX-AS1(dist=38581),ISX(dist=29643) chr22 35432486 35432486 C A het . 4 +intergenic ISX-AS1(dist=44791),ISX(dist=23433) chr22 35438696 35438696 G A het . 2 +intergenic ISX-AS1(dist=49094),ISX(dist=19130) chr22 35442999 35442999 C T het . 2 +exonic ISX chr22 35463162 35463162 A G het . 25 +exonic ISX chr22 35463179 35463179 T C het . 28 +exonic ISX chr22 35463249 35463249 C T het . 20 +intronic ISX chr22 35478486 35478486 A C het . 7 +intronic ISX chr22 35478688 35478688 C T het . 7 +intergenic ISX(dist=6536),LINC01399(dist=25901) chr22 35489916 35489916 C T het . 2 +ncRNA_intronic LINC01399 chr22 35557302 35557302 C T het . 2 +ncRNA_intronic LINC01399 chr22 35560258 35560258 G A het . 5 +ncRNA_intronic LINC01399 chr22 35560386 35560386 G A het . 4 +ncRNA_intronic LINC01399 chr22 35567355 35567355 G A het . 2 +ncRNA_intronic LINC01399 chr22 35573334 35573334 T C het . 2 +ncRNA_intronic LINC01399 chr22 35575744 35575744 T C het . 2 +ncRNA_intronic LINC01399 chr22 35577384 35577384 G A het . 1 +ncRNA_intronic LINC01399 chr22 35580597 35580597 T C het . 3 +ncRNA_intronic LINC01399 chr22 35584819 35584819 C T het . 2 +ncRNA_intronic LINC01399 chr22 35590706 35590706 G A het . 3 +ncRNA_exonic LINC01399 chr22 35590906 35590906 C T het . 12 +ncRNA_intronic LINC01399 chr22 35604422 35604422 G T het . 2 +intergenic LINC01399(dist=10837),HMGXB4(dist=15559) chr22 35637886 35637886 A C het . 3 +intergenic LINC01399(dist=10841),HMGXB4(dist=15555) chr22 35637890 35637890 C T het . 3 +intronic HMGXB4 chr22 35659620 35659620 G A het . 11 +exonic HMGXB4 chr22 35660875 35660875 G T het . 17 +intronic HMGXB4 chr22 35674777 35674777 G A het . 3 +intronic HMGXB4 chr22 35679951 35679951 T C het . 11 +intronic HMGXB4 chr22 35680095 35680095 G A het . 6 +intronic HMGXB4 chr22 35681893 35681893 G C het . 5 +intronic HMGXB4 chr22 35683238 35683238 T C het . 19 +intronic HMGXB4 chr22 35684533 35684533 G C het . 2 +intronic HMGXB4 chr22 35689415 35689415 G T het . 5 +intergenic HMGXB4(dist=1978),TOM1(dist=1490) chr22 35693778 35693778 T C het . 3 +UTR5 TOM1(NM_001135730:c.-120G>A,NM_005488:c.-120G>A,NM_001135732:c.-120G>A) chr22 35695802 35695802 G A het . 5 +intronic TOM1 chr22 35696077 35696077 G C het . 4 +intronic TOM1 chr22 35696899 35696899 C - het . 2 +intronic TOM1 chr22 35701573 35701573 A G het . 2 +intronic TOM1 chr22 35723831 35723831 A G het . 2 +intronic HMOX1 chr22 35785423 35785423 A T het . 2 +intronic HMOX1 chr22 35789263 35789263 A G het . 2 +UTR3 HMOX1(NM_002133:c.*39C>T) chr22 35789630 35789630 C T het . 25 +intronic MCM5 chr22 35796652 35796652 C G het . 5 +intronic MCM5 chr22 35797333 35797333 T C het . 6 +intronic MCM5 chr22 35799542 35799542 C T het . 11 +intronic MCM5 chr22 35817597 35817597 C A het . 5 +intergenic MCM5(dist=78889),RASD2(dist=37968) chr22 35899384 35899384 C T het . 14 +intergenic MCM5(dist=83336),RASD2(dist=33521) chr22 35903831 35903831 G C het . 3 +intergenic RASD2(dist=5853),MB(dist=46913) chr22 35955898 35955898 T A het . 2 +intergenic RASD2(dist=9197),MB(dist=43569) chr22 35959242 35959242 G A het . 2 +intergenic RASD2(dist=17417),MB(dist=35349) chr22 35967462 35967462 A C het . 2 +intronic MB chr22 36006923 36006923 - C het . 11 +intergenic APOL6(dist=43556),APOL5(dist=5907) chr22 36108012 36108012 G A het . 2 +intronic APOL5 chr22 36114047 36114047 C T het . 14 +intronic APOL5 chr22 36114054 36114054 C T het . 14 +intronic APOL5 chr22 36116493 36116493 - CTAA het . 5 +intronic APOL5 chr22 36116529 36116529 A C het . 5 +intronic APOL5 chr22 36116535 36116535 A G het . 5 +exonic APOL5 chr22 36122930 36122930 C T het . 30 +intronic RBFOX2 chr22 36157175 36157175 - A het . 6 +exonic RBFOX2 chr22 36177722 36177722 T - het . 24 +intronic RBFOX2 chr22 36218875 36218877 TTT - het . 18 +intergenic RBFOX2(dist=15667),APOL3(dist=96119) chr22 36440252 36440252 - A het . 3 +intergenic RBFOX2(dist=77128),APOL3(dist=34658) chr22 36501713 36501713 C T het . 2 +exonic APOL3 chr22 36537500 36537500 A T het . 23 +exonic APOL3 chr22 36537893 36537893 A G het . 12 +intronic APOL3 chr22 36541725 36541725 G T het . 5 +UTR5 APOL3(NM_030644:c.-34T>A,NM_014349:c.-34T>A,NM_145639:c.-34T>A) chr22 36545137 36545137 A T het . 24 +intronic APOL3 chr22 36545570 36545570 T C het . 2 +intronic APOL3 chr22 36545826 36545826 T C het . 2 +intronic APOL3 chr22 36550538 36550540 AAG - het . 7 +intronic APOL3 chr22 36550782 36550782 T C het . 3 +intronic APOL3 chr22 36553181 36553181 A G het . 9 +exonic APOL3 chr22 36556823 36556823 G T het . 29 +UTR5 APOL3(NM_145640:c.-25G>A,NM_030644:c.-11861G>A,NM_014349:c.-11861G>A,NM_145639:c.-11861G>A) chr22 36556964 36556964 C T het . 5 +exonic APOL4 chr22 36587704 36587704 T C het . 30 +exonic APOL4 chr22 36587886 36587886 C A het . 25 +intronic APOL4 chr22 36591274 36591274 T C het . 4 +intronic APOL4 chr22 36593197 36593197 G C het . 2 +intronic APOL4 chr22 36600647 36600647 A G het . 2 +exonic APOL2 chr22 36623731 36623731 T C het . 10 +exonic APOL2 chr22 36624073 36624073 T A het . 18 +exonic APOL2 chr22 36624231 36624231 C T het . 18 +exonic APOL2 chr22 36624242 36624242 G C het . 13 +intronic APOL2 chr22 36631691 36631691 G A het . 2 +intronic APOL2 chr22 36631952 36631952 T G het . 3 +intronic APOL2 chr22 36634217 36634217 T C het . 3 +intronic APOL2 chr22 36634586 36634586 A C het . 5 +UTR5 APOL1(NM_145343:c.-43C>T) chr22 36649966 36649966 C T het . 14 +UTR5 APOL1(NM_001136540:c.-46G>A,NM_001362927:c.-46G>A) chr22 36650956 36650956 G A het . 14 +intronic APOL1 chr22 36651231 36651231 T G het . 4 +intronic APOL1 chr22 36651365 36651365 A G het . 14 +intronic APOL1 chr22 36653275 36653275 G A het . 8 +intronic APOL1 chr22 36655012 36655012 A G het . 9 +intronic APOL1 chr22 36656138 36656138 A T het . 2 +intronic APOL1 chr22 36657596 36657596 A G het . 10 +intronic APOL1 chr22 36657628 36657628 T G het . 14 +intronic APOL1 chr22 36657789 36657789 T C het . 8 +intronic APOL1 chr22 36661149 36661149 A G het . 4 +intronic APOL1 chr22 36661152 36661152 G A het . 4 +exonic APOL1 chr22 36661330 36661330 G A het . 12 +exonic APOL1 chr22 36661536 36661536 C A het . 13 +exonic APOL1 chr22 36661566 36661566 G A het . 6 +exonic APOL1 chr22 36661646 36661646 G A het . 4 +exonic APOL1 chr22 36661842 36661842 G A het . 14 +intronic MYH9 chr22 36690026 36690026 G C het . 3 +intronic MYH9 chr22 36690113 36690113 G A het . 18 +exonic MYH9 chr22 36691607 36691607 A C het . 34 +intronic MYH9 chr22 36695173 36695173 C T het . 12 +intronic MYH9 chr22 36695247 36695247 G T het . 6 +intronic MYH9 chr22 36696751 36696751 A C het . 7 +intronic MYH9 chr22 36702300 36702300 C T het . 3 +intronic MYH9 chr22 36705529 36705529 A G het . 4 +intronic MYH9 chr22 36708084 36708084 C T het . 20 +intronic MYH9 chr22 36708338 36708338 A G het . 2 +intronic MYH9 chr22 36708400 36708400 - A het . 2 +intronic MYH9 chr22 36710047 36710047 T C het . 8 +intronic MYH9 chr22 36710056 36710056 A G het . 8 +intronic MYH9 chr22 36710183 36710183 T C het . 32 +intronic MYH9 chr22 36710519 36710519 C A het . 2 +intronic MYH9 chr22 36712472 36712472 A G het . 8 +intronic MYH9 chr22 36712810 36712810 C G het . 6 +intronic MYH9 chr22 36715740 36715740 T G het . 24 +intronic MYH9 chr22 36716029 36716029 T C het . 2 +intronic MYH9 chr22 36716202 36716202 - T het . 4 +intronic MYH9 chr22 36716209 36716209 G A het . 5 +intronic MYH9 chr22 36717001 36717001 - T het . 18 +intronic MYH9 chr22 36722534 36722534 G A het . 17 +intronic MYH9 chr22 36722839 36722839 G - het . 5 +intronic MYH9 chr22 36723697 36723697 T G het . 9 +intronic MYH9 chr22 36744887 36744887 C - het . 5 +intronic MYH9 chr22 36744888 36744888 C G het . 5 +intronic MYH9 chr22 36744890 36744890 C T het . 5 +intronic MYH9 chr22 36768595 36768595 A G het . 2 +intergenic MYH9(dist=17369),TXN2(dist=61612) chr22 36801481 36801481 G C het . 2 +intergenic MYH9(dist=26940),TXN2(dist=52041) chr22 36811052 36811052 G A het . 2 +intergenic MYH9(dist=33140),TXN2(dist=45841) chr22 36817252 36817252 A C het . 18 +intergenic MYH9(dist=75030),TXN2(dist=3951) chr22 36859142 36859142 - AAAT het . 2 +intronic TXN2 chr22 36872750 36872750 T G het . 3 +intronic FOXRED2 chr22 36890979 36890979 C T het . 3 +intronic FOXRED2 chr22 36894798 36894798 C A het . 2 +intronic FOXRED2 chr22 36897261 36897261 C G het . 4 +exonic FOXRED2 chr22 36900271 36900271 T C het . 29 +exonic FOXRED2 chr22 36900806 36900806 A G het . 17 +intronic EIF3D chr22 36907098 36907098 T C het . 6 +intronic EIF3D chr22 36919375 36919375 G C het . 15 +intergenic EIF3D(dist=20012),CACNG2(dist=11627) chr22 36945289 36945289 C T het . 3 +intergenic EIF3D(dist=25707),CACNG2(dist=5927) chr22 36950984 36950989 TTTTTC - het . 2 +intronic CACNG2 chr22 36960957 36960957 T G het . 15 +intronic CACNG2 chr22 36961017 36961017 G A het . 11 +intronic CACNG2 chr22 36962353 36962353 C G het . 12 +intronic CACNG2 chr22 36982181 36982181 G T het . 2 +intronic CACNG2 chr22 36983404 36983404 C G het . 5 +intronic CACNG2 chr22 36983428 36983428 G A het . 10 +intronic CACNG2 chr22 36989327 36989327 T G het . 2 +intronic CACNG2 chr22 37012618 37012618 T G het . 2 +intronic CACNG2 chr22 37017153 37017153 T A het . 2 +intronic CACNG2 chr22 37023096 37023096 A C het . 2 +intronic CACNG2 chr22 37046761 37046761 G C het . 2 +intronic CACNG2 chr22 37077594 37077594 G - het . 2 +intronic CACNG2 chr22 37080738 37080738 G C het . 3 +intronic CACNG2 chr22 37088339 37088339 G T het . 2 +ncRNA_intronic LOC105373021 chr22 37148935 37148935 T C het . 2 +UTR3 PVALB(NM_002854:c.*63C>T,NM_001315532:c.*63C>T) chr22 37196871 37196871 G A het . 13 +intronic PVALB chr22 37196971 37196971 C A het . 26 +intronic PVALB chr22 37207667 37207667 T A het . 6 +intergenic PVALB(dist=8007),NCF4-AS1(dist=19891) chr22 37223524 37223524 - G het . 2 +intergenic PVALB(dist=12429),NCF4-AS1(dist=15469) chr22 37227946 37227946 T C het . 4 +ncRNA_intronic NCF4-AS1 chr22 37250027 37250030 TTTG - het . 5 +ncRNA_intronic NCF4-AS1 chr22 37260076 37260076 C T het . 30 +intronic NCF4 chr22 37267767 37267767 A G het . 16 +intronic NCF4 chr22 37268079 37268079 A G het . 5 +intronic NCF4 chr22 37268257 37268257 C T het . 28 +intronic NCF4 chr22 37268501 37268501 A G het . 33 +intronic NCF4 chr22 37268555 37268555 A G het . 16 +intronic NCF4 chr22 37271013 37271013 G C het . 2 +exonic NCF4 chr22 37271882 37271882 T C het . 30 +intergenic NCF4(dist=11835),CSF2RB(dist=23781) chr22 37285894 37285894 G A het . 3 +intergenic NCF4(dist=31621),CSF2RB(dist=3995) chr22 37305680 37305680 G A het . 2 +intergenic NCF4(dist=31658),CSF2RB(dist=3958) chr22 37305717 37305717 A G het . 1 +intergenic NCF4(dist=31660),CSF2RB(dist=3956) chr22 37305719 37305719 C A het . 1 +upstream CSF2RB(dist=890) chr22 37308785 37308785 T C het . 2 +intronic CSF2RB chr22 37319425 37319425 G T het . 10 +exonic CSF2RB chr22 37326770 37326770 C A het . 21 +intronic CSF2RB chr22 37328751 37328751 A G het . 14 +intronic CSF2RB chr22 37330082 37330082 T C het . 16 +intronic CSF2RB chr22 37331305 37331305 A G het . 11 +exonic CSF2RB chr22 37333657 37333657 C A het . 4 +exonic CSF2RB chr22 37333794 37333794 A G het . 7 +intergenic CSF2RB(dist=11091),LL22NC01-81G9.3(dist=13719) chr22 37347570 37347570 T C het . 2 +exonic KCTD17 chr22 37453452 37453452 C T het . 11 +exonic TMPRSS6 chr22 37462926 37462926 G A het . 30 +exonic TMPRSS6 chr22 37462936 37462936 A G het . 28 +intronic TMPRSS6 chr22 37464624 37464624 T C het . 11 +exonic TMPRSS6 chr22 37465182 37465182 C A het . 13 +exonic TMPRSS6 chr22 37469591 37469591 G A het . 13 +intronic TMPRSS6 chr22 37470536 37470536 C T het . 2 +intronic TMPRSS6 chr22 37470604 37470604 G A het . 4 +intronic TMPRSS6 chr22 37471385 37471385 G A het . 6 +intronic TMPRSS6 chr22 37474079 37474079 G A het . 2 +intronic TMPRSS6 chr22 37474988 37474989 GG AA het . 1 +exonic TMPRSS6 chr22 37480797 37480797 C T het . 14 +intronic TMPRSS6 chr22 37481041 37481041 G C het . 4 +intronic TMPRSS6 chr22 37485595 37485595 T C het . 3 +exonic TMPRSS6 chr22 37485724 37485724 T C het . 25 +intronic TMPRSS6 chr22 37491545 37491545 T C het . 24 +intronic TMPRSS6 chr22 37491822 37491822 G A het . 5 +intronic TMPRSS6 chr22 37491839 37491839 A G het . 4 +intronic TMPRSS6 chr22 37492201 37492201 T G het . 10 +intronic TMPRSS6 chr22 37492585 37492585 C T het . 17 +intronic TMPRSS6 chr22 37494915 37494915 G A het . 1 +UTR5 TMPRSS6(NM_153609:c.-113T>C) chr22 37499692 37499692 A G het . 9 +intronic TMPRSS6 chr22 37499699 37499699 C T het . 8 +intronic IL2RB chr22 37528576 37528576 A G het . 2 +exonic IL2RB chr22 37531436 37531436 G A het . 11 +intronic IL2RB chr22 37532441 37532441 G A het . 5 +intronic IL2RB chr22 37533786 37533786 C G het . 9 +intronic IL2RB chr22 37533795 37533795 G C het . 9 +intronic IL2RB chr22 37539713 37539713 T C het . 7 +intronic C1QTNF6 chr22 37580442 37580442 A T het . 26 +exonic C1QTNF6 chr22 37581422 37581422 G C het . 5 +exonic C1QTNF6 chr22 37581485 37581485 C A het . 2 +intergenic SSTR3(dist=3446),RAC2(dist=9439) chr22 37611862 37611862 G T het . 3 +intergenic SSTR3(dist=3535),RAC2(dist=9350) chr22 37611951 37611951 C G het . 5 +intergenic SSTR3(dist=3571),RAC2(dist=9314) chr22 37611987 37611987 C T het . 4 +intergenic SSTR3(dist=10584),RAC2(dist=2301) chr22 37619000 37619000 A G het . 2 +intronic RAC2 chr22 37629143 37629143 T A het . 4 +upstream CYTH4(dist=100) chr22 37678324 37678324 - CGTTTGTT het . 2 +UTR5 CYTH4(NM_013385:c.-60A>G,NM_001318024:c.-13493A>G) chr22 37678551 37678551 A G het . 11 +UTR5 CYTH4(NM_013385:c.-46G>A,NM_001318024:c.-13479G>A) chr22 37678565 37678565 G A het . 14 +intronic CYTH4 chr22 37695246 37695246 C T het . 3 +intronic CYTH4 chr22 37697133 37697133 C T het . 5 +exonic CYTH4 chr22 37699377 37699377 T C het . 12 +intronic CYTH4 chr22 37700177 37700177 T C het . 15 +intergenic CYTH4(dist=22460),LOC100506271(dist=14382) chr22 37733849 37733849 C T het . 2 +intergenic LOC100506271(dist=3120),ELFN2(dist=10001) chr22 37753999 37753999 C A het . 2 +exonic ELFN2 chr22 37770066 37770066 G T het . 6 +exonic ELFN2 chr22 37770357 37770357 A G het . 13 +exonic ELFN2 chr22 37770630 37770630 G A het . 9 +exonic ELFN2 chr22 37771158 37771158 G A het . 19 +intronic ELFN2 chr22 37778335 37778335 T - het . 2 +intronic ELFN2 chr22 37819985 37819985 T G het . 2 +intergenic ELFN2(dist=6576),MFNG(dist=35020) chr22 37830081 37830081 C A het . 2 +intergenic ELFN2(dist=24338),MFNG(dist=17258) chr22 37847843 37847843 T C het . 4 +downstream MFNG(dist=267) chr22 37864834 37864834 G C het . 2 +exonic CDC42EP1 chr22 37964299 37964299 C G het . 10 +intronic LGALS2 chr22 37966822 37966822 C A het . 6 +intronic LGALS2 chr22 37969164 37969164 G T het . 2 +intronic LGALS2 chr22 37969173 37969173 G T het . 1 +intronic LGALS2 chr22 37969191 37969191 C T het . 2 +intronic LGALS2 chr22 37973195 37973195 G C het . 3 +upstream LGALS2(dist=214) chr22 37976238 37976239 CA TT het . 3 +upstream LGALS2(dist=767) chr22 37976791 37976791 T C het . 2 +intergenic LGALS2(dist=8633),GGA1(dist=19824) chr22 37984657 37984657 T G het . 2 +intronic GGA1 chr22 38013809 38013809 G A het . 1 +ncRNA_intronic LOC101927051 chr22 38043444 38043444 C A het . 5 +ncRNA_intronic LOC101927051 chr22 38044497 38044497 C T het . 12 +exonic SH3BP1 chr22 38051999 38051999 C T het . 26 +intronic LGALS1 chr22 38071731 38071731 - C het . 5 +intronic LGALS1 chr22 38074343 38074343 C T het . 15 +intronic LGALS1 chr22 38074434 38074434 G A het . 25 +intergenic LGALS1(dist=2844),NOL12(dist=3691) chr22 38078653 38078653 A - het . 2 +UTR5 TRIOBP(NM_001039141:c.-14C>G) chr22 38097359 38097359 C G het . 16 +intronic TRIOBP chr22 38102945 38102945 T A het . 2 +intronic TRIOBP chr22 38109115 38109115 G T het . 2 +intronic TRIOBP chr22 38113878 38113878 C G het . 2 +exonic TRIOBP chr22 38119749 38119749 A G het . 30 +exonic TRIOBP chr22 38122462 38122462 A G het . 2 +intronic TRIOBP chr22 38126582 38126582 C T het . 3 +exonic TRIOBP chr22 38130459 38130459 G T het . 17 +exonic TRIOBP chr22 38130472 38130472 T C het . 18 +intronic TRIOBP chr22 38142468 38142468 A G het . 9 +intronic TRIOBP chr22 38146847 38146847 T C het . 4 +intronic TRIOBP chr22 38155317 38155317 C G het . 12 +exonic TRIOBP chr22 38164106 38164106 C T het . 29 +intronic TRIOBP chr22 38165224 38165224 G - het . 16 +intronic TRIOBP chr22 38168508 38168508 T C het . 9 +intergenic TRIOBP(dist=3653),H1F0(dist=24898) chr22 38176216 38176216 G A het . 4 +intergenic TRIOBP(dist=8223),H1F0(dist=20328) chr22 38180786 38180786 G T het . 2 +intronic GCAT chr22 38205784 38205784 A C het . 2 +intronic GCAT chr22 38205894 38205894 T C het . 5 +exonic GCAT chr22 38205989 38205989 T C het . 15 +exonic EIF3L chr22 38273749 38273749 T C het . 18 +intronic EIF3L chr22 38278779 38278780 CT GC het . 3 +intergenic EIF3L(dist=11379),MICALL1(dist=5987) chr22 38296168 38296168 T C het . 3 +intronic MICALL1 chr22 38307909 38307909 T C het . 6 +intronic MICALL1 chr22 38331234 38331234 A C het . 2 +intronic PICK1 chr22 38453679 38453679 - G het . 4 +intronic PICK1 chr22 38463652 38463652 T G het . 9 +intronic PICK1 chr22 38463968 38463968 A G het . 4 +intronic PICK1 chr22 38466911 38466911 T G het . 14 +intronic PICK1 chr22 38467784 38467784 G C het . 16 +exonic SLC16A8 chr22 38474696 38474696 A G het . 8 +exonic SLC16A8 chr22 38477342 38477342 T A het . 7 +exonic SLC16A8 chr22 38477930 38477930 G A het . 14 +intronic BAIAP2L2 chr22 38481516 38481516 G A het . 5 +intronic BAIAP2L2 chr22 38503847 38503847 C T het . 11 +exonic BAIAP2L2 chr22 38506509 38506509 A G het . 5 +intronic PLA2G6 chr22 38512402 38512402 G A het . 11 +intronic PLA2G6 chr22 38514839 38514839 T C het . 2 +intronic PLA2G6 chr22 38524149 38524149 G C het . 5 +intronic PLA2G6 chr22 38539041 38539041 T C het . 8 +intronic PLA2G6 chr22 38539420 38539420 A G het . 9 +intronic PLA2G6 chr22 38540838 38540847 ATAAAATAAA - het . 9 +intronic PLA2G6 chr22 38561911 38561911 T G het . 2 +intronic PLA2G6 chr22 38563297 38563297 C G het . 2 +intronic PLA2G6 chr22 38567332 38567332 T C het . 2 +intronic PLA2G6 chr22 38567340 38567340 G A het . 2 +intronic PLA2G6 chr22 38572977 38572977 G A het . 2 +intronic MAFF chr22 38609205 38609205 - AAAG het . 3 +intronic TMEM184B chr22 38624412 38624412 - AGC het . 3 +intronic TMEM184B chr22 38626556 38626556 G T het . 3 +intronic CSNK1E,TPTEP2-CSNK1E chr22 38690698 38690698 A G het . 2 +intronic CSNK1E,TPTEP2-CSNK1E chr22 38699051 38699054 AGGC - het . 4 +intronic CSNK1E,TPTEP2-CSNK1E chr22 38703589 38703589 C G het . 2 +ncRNA_intronic TPTEP2 chr22 38752520 38752520 C T het . 2 +ncRNA_intronic TPTEP2 chr22 38766062 38766062 A - het . 17 +ncRNA_intronic TPTEP2 chr22 38778390 38778390 T A het . 3 +exonic KCNJ4 chr22 38823136 38823136 T C het . 20 +intronic KDELR3 chr22 38874570 38874570 T C het . 3 +intronic KDELR3 chr22 38875549 38875549 C T het . 8 +intronic KDELR3 chr22 38877106 38877106 C T het . 2 +exonic KDELR3 chr22 38877461 38877461 T G het . 13 +UTR3 DDX17(NM_006386:c.*2252C>T,NM_001098504:c.*2252C>T) chr22 38879688 38879688 G A het . 2 +UTR3 DDX17(NM_006386:c.*1690delC,NM_001098504:c.*1690delC) chr22 38880250 38880250 G - het . 3 +intronic DDX17 chr22 38889657 38889657 C T het . 9 +intronic DDX17 chr22 38895522 38895524 AAG - het . 14 +intergenic DDX17(dist=1470),DMC1(dist=11139) chr22 38903815 38903815 A - het . 3 +intronic DMC1 chr22 38933740 38933740 G A het . 24 +intronic FAM227A chr22 38982321 38982321 T C het . 7 +intronic FAM227A chr22 38982743 38982743 A G het . 2 +intronic FAM227A chr22 38987601 38987601 C A het . 10 +intronic FAM227A chr22 38993370 38993370 C T het . 12 +intronic FAM227A chr22 38993467 38993467 A G het . 5 +intronic FAM227A chr22 39003495 39003495 G A het . 21 +intronic FAM227A chr22 39013830 39013830 T C het . 2 +intronic FAM227A chr22 39015302 39015302 T C het . 2 +intronic FAM227A chr22 39016182 39016182 T C het . 7 +intronic FAM227A chr22 39024961 39024961 G T het . 11 +intronic FAM227A chr22 39028510 39028510 T C het . 2 +intronic FAM227A chr22 39034867 39034867 G A het . 2 +intronic FAM227A chr22 39035415 39035415 A G het . 1 +intronic FAM227A chr22 39041093 39041096 AAAT - het . 2 +intronic FAM227A chr22 39046327 39046327 T C het . 3 +intronic FAM227A chr22 39049317 39049317 A G het . 3 +intronic CBY1 chr22 39058239 39058239 T C het . 3 +intronic CBY1 chr22 39059649 39059649 T C het . 2 +intronic CBY1 chr22 39061030 39061030 G A het . 2 +intronic CBY1 chr22 39064209 39064209 G A het . 6 +intronic CBY1 chr22 39064230 39064230 A G het . 6 +intronic CBY1 chr22 39069045 39069045 A G het . 7 +exonic CBY1 chr22 39069181 39069181 T C het . 28 +downstream CBY1(dist=695) chr22 39070550 39070550 T C het . 3 +downstream CBY1(dist=956) chr22 39070811 39070811 C T het . 2 +intergenic CBY1(dist=1803),TOMM22(dist=6296) chr22 39071658 39071658 A G het . 1 +intergenic CBY1(dist=1822),TOMM22(dist=6277) chr22 39071677 39071677 C T het . 2 +intergenic CBY1(dist=5205),TOMM22(dist=2894) chr22 39075060 39075060 T C het . 2 +intergenic CBY1(dist=5637),TOMM22(dist=2462) chr22 39075492 39075492 C G het . 2 +intronic TOMM22 chr22 39079413 39079413 A G het . 2 +UTR3 TOMM22(NM_020243:c.*75_*76delTT) chr22 39079921 39079922 TT - het . 10 +UTR3 TOMM22(NM_020243:c.*118T>C) chr22 39079964 39079964 T C het . 13 +intronic JOSD1 chr22 39095698 39095698 C G het . 3 +exonic GTPBP1 chr22 39112695 39112695 C A het . 11 +intronic GTPBP1 chr22 39113903 39113903 C T het . 2 +intronic GTPBP1 chr22 39126508 39126508 A G het . 3 +intronic SUN2 chr22 39133803 39133803 C T het . 4 +exonic SUN2 chr22 39134715 39134715 T C het . 9 +intronic SUN2 chr22 39141600 39141600 G A het . 4 +intronic SUN2 chr22 39148483 39148483 G A het . 6 +intronic SUN2 chr22 39150543 39150543 G T het . 2 +intronic SUN2 chr22 39150998 39150998 C A het . 15 +intronic SUN2 chr22 39151058 39151058 G - het . 6 +intronic SUN2 chr22 39151062 39151062 A G het . 6 +exonic DNAL4 chr22 39178701 39178701 A G het . 6 +exonic NPTXR chr22 39222652 39222652 G A het . 13 +intronic NPTXR chr22 39235582 39235582 G A het . 2 +intronic CBX6 chr22 39267312 39267312 C T het . 5 +intronic CBX6 chr22 39267378 39267378 G T het . 2 +intergenic CBX6(dist=12338),APOBEC3A(dist=72850) chr22 39280677 39280677 G A het . 1 +intergenic CBX6(dist=17741),APOBEC3A(dist=67447) chr22 39286080 39286080 C A het . 3 +intergenic CBX6(dist=22838),APOBEC3A(dist=62350) chr22 39291177 39291177 T - het . 4 +intergenic CBX6(dist=22918),APOBEC3A(dist=62270) chr22 39291257 39291257 T C het . 3 +intergenic CBX6(dist=25679),APOBEC3A(dist=59509) chr22 39294018 39294018 T C het . 3 +intronic APOBEC3A,APOBEC3A_B chr22 39355717 39355717 G A het . 3 +intronic APOBEC3A_B chr22 39365165 39365165 A G het . 3 +exonic APOBEC3B chr22 39381826 39381826 A G het . 6 +exonic APOBEC3B chr22 39382079 39382079 C A het . 4 +intronic APOBEC3A_B,APOBEC3B chr22 39385663 39385663 G A het . 2 +ncRNA_intronic APOBEC3B-AS1 chr22 39390772 39390772 A - het . 3 +intergenic APOBEC3B-AS1(dist=8225),APOBEC3C(dist=7815) chr22 39402450 39402450 C T het . 2 +intronic APOBEC3C chr22 39412929 39412929 A C het . 2 +intronic APOBEC3C chr22 39414166 39414166 A G het . 5 +intronic APOBEC3C chr22 39414224 39414224 A G het . 11 +intronic APOBEC3C chr22 39414240 39414240 G A het . 11 +UTR3 APOBEC3C(NM_014508:c.*374C>T) chr22 39414766 39414766 C T het . 3 +exonic APOBEC3D chr22 39421145 39421145 C A het . 7 +exonic APOBEC3F chr22 39441203 39441203 C T het . 9 +intronic APOBEC3F chr22 39445380 39445380 G A het . 6 +exonic APOBEC3F chr22 39445554 39445554 G A het . 21 +UTR3 APOBEC3F(NM_145298:c.*11C>A) chr22 39448711 39448711 C A het . 13 +UTR3 APOBEC3F(NM_145298:c.*50T>C) chr22 39448750 39448750 T C het . 6 +UTR3 APOBEC3G(NM_001349438:c.*64C>T) chr22 39477658 39477658 C T het . 4 +exonic APOBEC3G chr22 39482371 39482371 C G het . 14 +intergenic APOBEC3G(dist=1172),APOBEC3H(dist=8309) chr22 39484920 39484920 C G het . 5 +intronic APOBEC3H chr22 39495512 39495512 G A het . 2 +exonic APOBEC3H chr22 39496412 39496412 G C het . 22 +exonic APOBEC3H chr22 39497404 39497404 G C het . 22 +exonic APOBEC3H chr22 39497452 39497452 A G het . 13 +exonic APOBEC3H chr22 39497454 39497454 G C het . 13 +splicing APOBEC3H(NM_001166004:exon3:c.416+2A>G) chr22 39497509 39497509 A G het . 5 +intronic APOBEC3H chr22 39497811 39497811 A G het . 7 +exonic APOBEC3H chr22 39498038 39498038 G C het . 14 +intronic APOBEC3H chr22 39498374 39498374 A - het . 3 +intronic APOBEC3H chr22 39498480 39498482 CTC - het . 8 +intronic APOBEC3H chr22 39499575 39499575 G T het . 7 +intronic APOBEC3H chr22 39499653 39499653 C T het . 15 +UTR3 APOBEC3H(NM_181773:c.*61T>C,NM_001166003:c.*104T>C,NM_001166002:c.*61T>C) chr22 39499763 39499763 T C het . 9 +intergenic APOBEC3H(dist=12539),CBX7(dist=14168) chr22 39512611 39512611 T C het . 2 +intergenic APOBEC3H(dist=22593),CBX7(dist=4114) chr22 39522665 39522665 G A het . 2 +intronic CBX7 chr22 39539268 39539268 G T het . 2 +intergenic CBX7(dist=2900),PDGFB(dist=67809) chr22 39551555 39551555 T C het . 2 +intergenic CBX7(dist=2912),PDGFB(dist=67797) chr22 39551567 39551567 A G het . 3 +intergenic CBX7(dist=2973),PDGFB(dist=67736) chr22 39551628 39551628 C T het . 7 +intergenic CBX7(dist=3143),PDGFB(dist=67566) chr22 39551798 39551798 T C het . 10 +intergenic CBX7(dist=3334),PDGFB(dist=67375) chr22 39551989 39551989 G A het . 20 +intergenic CBX7(dist=3420),PDGFB(dist=67289) chr22 39552075 39552075 G A het . 17 +intergenic CBX7(dist=14028),PDGFB(dist=56680) chr22 39562683 39562684 AA - het . 2 +intergenic CBX7(dist=42231),PDGFB(dist=28478) chr22 39590886 39590886 C T het . 3 +intergenic CBX7(dist=42241),PDGFB(dist=28468) chr22 39590896 39590896 A T het . 2 +intergenic CBX7(dist=42260),PDGFB(dist=28449) chr22 39590915 39590915 T C het . 2 +intronic PDGFB chr22 39622940 39622940 T C het . 2 +intronic PDGFB chr22 39636930 39636930 A G het . 9 +intronic PDGFB chr22 39636947 39636948 CT - het . 5 +intronic PDGFB chr22 39639853 39639853 G T het . 7 +intergenic PDGFB(dist=3143),RPL3(dist=64684) chr22 39644203 39644203 C T het . 2 +intergenic PDGFB(dist=15944),RPL3(dist=51883) chr22 39657004 39657004 C T het . 7 +intergenic PDGFB(dist=27862),RPL3(dist=39965) chr22 39668922 39668922 T C het . 2 +intergenic PDGFB(dist=27901),RPL3(dist=39926) chr22 39668961 39668961 G T het . 3 +intronic RPL3 chr22 39709009 39709009 G A het . 11 +intronic RPL3 chr22 39710284 39710284 - TT het . 5 +intronic RPL3 chr22 39711351 39711351 A G het . 11 +intronic RPL3 chr22 39712981 39712981 A G het . 4 +intronic RPL3 chr22 39714704 39714704 C T het . 3 +intergenic RPL3(dist=1884),SYNGR1(dist=28400) chr22 39717554 39717554 G T het . 2 +intergenic RPL3(dist=19377),SYNGR1(dist=10907) chr22 39735047 39735047 T A het . 3 +intergenic RPL3(dist=19417),SYNGR1(dist=10867) chr22 39735087 39735087 G A het . 4 +intronic SYNGR1 chr22 39746168 39746168 C A het . 4 +intronic SYNGR1 chr22 39770597 39770597 A G het . 13 +exonic SYNGR1 chr22 39777822 39777822 - CAA het . 20 +upstream TAB1(dist=76) chr22 39795683 39795683 G C het . 3 +intronic TAB1 chr22 39812986 39812986 C A het . 4 +intronic TAB1 chr22 39825492 39825492 A T het . 3 +intronic MGAT3 chr22 39879508 39879508 A - het . 2 +intronic MGAT3 chr22 39881964 39881964 C A het . 9 +intronic MGAT3 chr22 39882150 39882152 TTT - het . 12 +downstream MGAT3(dist=662) chr22 39888861 39888861 C T het . 3 +UTR3 MIEF1(NM_019008:c.*816G>T) chr22 39911144 39911144 G T het . 4 +UTR3 MIEF1(NM_001304564:c.*2179G>A,NM_019008:c.*3229G>A) chr22 39913557 39913557 G A het . 13 +exonic ATF4 chr22 39917515 39917515 A C het . 4 +intronic CACNA1I chr22 39972162 39972162 T C het . 2 +intronic CACNA1I chr22 39984086 39984086 A T het . 4 +intronic CACNA1I chr22 39984946 39984946 T C het . 2 +intronic CACNA1I chr22 40030477 40030477 C A het . 2 +intronic CACNA1I chr22 40043812 40043812 A G het . 11 +exonic CACNA1I chr22 40054948 40054948 T C het . 12 +intronic CACNA1I chr22 40055896 40055896 T C het . 6 +exonic CACNA1I chr22 40057273 40057273 T C het . 7 +intergenic CACNA1I(dist=7124),ENTHD1(dist=46185) chr22 40092864 40092864 A G het . 2 +intergenic CACNA1I(dist=7126),ENTHD1(dist=46183) chr22 40092866 40092866 G T het . 2 +intronic ENTHD1 chr22 40253476 40253476 A T het . 2 +exonic GRAP2 chr22 40364160 40364160 A C het . 19 +exonic GRAP2 chr22 40364164 40364164 T G het . 15 +intronic FAM83F chr22 40415140 40415140 C T het . 1 +exonic FAM83F chr22 40417780 40417780 C T het . 36 +intronic TNRC6B chr22 40547879 40547879 - GAAAG het . 4 +intronic TNRC6B chr22 40568512 40568512 G A het . 2 +intronic TNRC6B chr22 40568526 40568526 G T het . 1 +intronic TNRC6B chr22 40574170 40574170 T A het . 17 +intronic TNRC6B chr22 40589870 40589873 AAAG - het . 3 +intronic TNRC6B chr22 40599631 40599631 G A het . 3 +intronic TNRC6B chr22 40641980 40641980 G A het . 12 +exonic TNRC6B chr22 40662629 40662629 G T het . 5 +intronic TNRC6B chr22 40666041 40666041 G C het . 3 +intronic TNRC6B chr22 40673999 40673999 C T het . 14 +intronic TNRC6B chr22 40677001 40677001 T C het . 3 +intronic TNRC6B chr22 40681788 40681788 C T het . 9 +intronic TNRC6B chr22 40692232 40692232 T C het . 2 +intronic TNRC6B chr22 40696633 40696633 - T het . 8 +intronic TNRC6B chr22 40708679 40708679 T C het . 7 +intronic ADSL chr22 40745664 40745664 A C het . 7 +intronic ADSL chr22 40746138 40746138 T - het . 5 +intronic ADSL chr22 40749068 40749068 C A het . 29 +intronic ADSL chr22 40757159 40757159 C A het . 7 +intronic ADSL chr22 40757228 40757228 A C het . 15 +exonic MRTFA chr22 40813413 40813413 G A het . 15 +intronic MRTFA chr22 40843139 40843139 C A het . 3 +intronic MRTFA chr22 40930212 40930212 C T het . 2 +intronic MRTFA chr22 40932328 40932328 A C het . 4 +intronic MRTFA chr22 40982889 40982897 GTGCTGCTG - het . 5 +intronic MRTFA chr22 41007476 41007476 C T het . 2 +exonic MCHR1 chr22 41075543 41075543 A G het . 24 +exonic MCHR1 chr22 41075695 41075695 C T het . 24 +intergenic MCHR1(dist=28870),SLC25A17(dist=57946) chr22 41107688 41107688 C T het . 2 +intergenic MCHR1(dist=68215),SLC25A17(dist=18601) chr22 41147033 41147033 G C het . 4 +intronic SLC25A17 chr22 41170063 41170063 T C het . 15 +intronic SLC25A17 chr22 41172351 41172351 A G het . 7 +intronic SLC25A17 chr22 41175263 41175263 C T het . 8 +intronic SLC25A17 chr22 41181586 41181586 G A het . 2 +intronic ST13 chr22 41227086 41227086 C G het . 9 +intronic ST13 chr22 41234568 41234568 C T het . 2 +exonic DNAJB7 chr22 41257566 41257566 G T het . 24 +intronic XPNPEP3 chr22 41272176 41272176 A C het . 2 +intronic XPNPEP3 chr22 41297305 41297305 C G het . 2 +intronic XPNPEP3 chr22 41302973 41302973 A T het . 7 +intronic XPNPEP3 chr22 41310149 41310149 A - het . 6 +intergenic XPNPEP3(dist=7835),RBX1(dist=10693) chr22 41336658 41336658 A G het . 2 +intergenic XPNPEP3(dist=14385),RBX1(dist=4143) chr22 41343208 41343208 T - het . 3 +intergenic RBX1(dist=2399),SNORD140(dist=98188) chr22 41371418 41371418 T A het . 2 +intergenic RBX1(dist=42785),SNORD140(dist=57802) chr22 41411804 41411804 G C het . 2 +intergenic RBX1(dist=43909),SNORD140(dist=56678) chr22 41412928 41412928 A G het . 2 +intergenic RBX1(dist=78426),SNORD140(dist=22161) chr22 41447445 41447445 C T het . 3 +upstream SNORD140(dist=588) chr22 41470313 41470313 A G het . 16 +intergenic SNORD140(dist=1278),MIR1281(dist=17514) chr22 41471003 41471003 C T het . 13 +intergenic SNORD140(dist=1341),MIR1281(dist=17451) chr22 41471066 41471066 T C het . 8 +intergenic SNORD140(dist=16441),MIR1281(dist=2351) chr22 41486166 41486166 A - het . 2 +intronic EP300 chr22 41513094 41513094 G T het . 6 +intronic EP300 chr22 41518145 41518148 TTTC - het . 2 +intronic EP300 chr22 41521717 41521717 T C het . 11 +intronic EP300 chr22 41537234 41537234 G T het . 29 +intronic EP300 chr22 41543742 41543742 A - het . 13 +intronic EP300 chr22 41545611 41545611 G C het . 5 +intronic EP300 chr22 41550954 41550954 C T het . 22 +intronic EP300 chr22 41550985 41550985 T - het . 29 +exonic EP300 chr22 41551039 41551039 T A het . 46 +intronic EP300 chr22 41552438 41552438 - A het . 2 +intronic EP300 chr22 41559938 41559938 C A het . 12 +intronic EP300 chr22 41563819 41563819 T G het . 1 +intronic EP300 chr22 41564708 41564708 C A het . 30 +intronic EP300 chr22 41568480 41568480 T C het . 22 +intronic EP300 chr22 41569609 41569609 C T het . 17 +intronic EP300 chr22 41572183 41572183 C A het . 15 +exonic EP300 chr22 41574677 41574677 A C het . 7 +ncRNA_intronic EP300-AS1 chr22 41585793 41585793 T G het . 24 +intronic L3MBTL2 chr22 41604353 41604353 C T het . 13 +intronic L3MBTL2 chr22 41604399 41604399 G A het . 8 +ncRNA_exonic LOC100506544 chr22 41605635 41605635 T C het . 8 +ncRNA_exonic LOC100506544 chr22 41605639 41605639 C T het . 8 +ncRNA_exonic LOC100506544 chr22 41609859 41609859 T C het . 3 +exonic L3MBTL2 chr22 41610024 41610024 G A het . 9 +ncRNA_exonic LOC100506544 chr22 41610172 41610172 G C het . 4 +intronic L3MBTL2 chr22 41617160 41617160 - G het . 9 +intronic L3MBTL2 chr22 41617318 41617318 G C het . 14 +intronic L3MBTL2 chr22 41623331 41623331 T G het . 13 +intronic L3MBTL2 chr22 41623338 41623338 T G het . 13 +intronic RANGAP1 chr22 41645501 41645501 G - het . 10 +exonic RANGAP1 chr22 41645757 41645757 C G het . 17 +exonic RANGAP1 chr22 41650402 41650402 C T het . 13 +intronic RANGAP1 chr22 41652345 41652345 C G het . 6 +intronic RANGAP1 chr22 41657705 41657705 G A het . 3 +intronic RANGAP1 chr22 41673592 41673592 A T het . 3 +intronic ZC3H7B chr22 41716763 41716763 T G het . 5 +intergenic TEF(dist=5936),TOB2(dist=28224) chr22 41801268 41801268 A C het . 2 +intergenic TEF(dist=7947),TOB2(dist=26213) chr22 41803279 41803279 C T het . 2 +intergenic TEF(dist=14305),TOB2(dist=19855) chr22 41809637 41809637 C T het . 1 +intergenic TEF(dist=14838),TOB2(dist=19322) chr22 41810170 41810170 T C het . 2 +intergenic TEF(dist=17423),TOB2(dist=16737) chr22 41812755 41812755 C T het . 2 +intergenic TEF(dist=20277),TOB2(dist=13883) chr22 41815609 41815609 T C het . 2 +intergenic TEF(dist=22944),TOB2(dist=11216) chr22 41818276 41818276 A G het . 2 +exonic TOB2 chr22 41833116 41833116 C T het . 25 +intronic TOB2 chr22 41836873 41836873 - T het . 3 +intronic TOB2 chr22 41842203 41842203 T A het . 2 +intronic PHF5A chr22 41863423 41863423 A G het . 5 +intronic PHF5A chr22 41864216 41864216 A C het . 3 +intronic PHF5A chr22 41864540 41864540 A C het . 4 +intronic PHF5A chr22 41864547 41864547 A C het . 3 +intronic ACO2 chr22 41877989 41877989 A G het . 1 +intronic POLR3H chr22 41935063 41935063 G A het . 2 +UTR3 DESI1(NM_015704:c.*1879_*1877delCTT) chr22 41995222 41995224 AAG - het . 2 +intergenic XRCC6(dist=8287),SNU13(dist=1598) chr22 42068339 42068339 T - het . 3 +intronic SNU13 chr22 42073134 42073134 C T het . 19 +intronic SNU13 chr22 42076381 42076381 C A het . 4 +exonic C22orf46 chr22 42089623 42089623 T C het . 3 +intronic MEI1 chr22 42139054 42139054 G A het . 8 +intronic MEI1 chr22 42139078 42139078 A G het . 7 +intronic MEI1 chr22 42141871 42141871 - A het . 14 +intronic MEI1 chr22 42150146 42150146 C T het . 5 +exonic MEI1 chr22 42159229 42159229 G T het . 15 +intronic MEI1 chr22 42177453 42177453 G C het . 2 +intronic MEI1 chr22 42177899 42177899 A G het . 5 +UTR3 MEI1(NM_152513:c.*107T>C) chr22 42195410 42195410 T C het . 8 +intronic CCDC134 chr22 42216326 42216326 A G het . 2 +intronic SREBF2 chr22 42236337 42236337 G A het . 2 +exonic SREBF2 chr22 42262949 42262951 GCA - het . 36 +exonic SREBF2 chr22 42276742 42276742 G C het . 21 +intronic SREBF2 chr22 42287966 42287966 C T het . 2 +intronic SREBF2 chr22 42289466 42289466 T C het . 6 +intronic SREBF2 chr22 42292923 42292923 G A het . 4 +exonic SREBF2 chr22 42293140 42293140 G C het . 13 +exonic SREBF2 chr22 42300948 42300948 C A het . 15 +UTR3 SREBF2(NM_004599:c.*84A>G) chr22 42301748 42301748 A G het . 11 +UTR3 SREBF2(NM_004599:c.*279C>T) chr22 42301943 42301943 C T het . 19 +intergenic SHISA8(dist=6494),MIR378I(dist=1633) chr22 42317593 42317593 C A het . 1 +intronic TNFRSF13C chr22 42321591 42321591 A G het . 6 +intronic TNFRSF13C chr22 42322016 42322016 C G het . 6 +exonic TNFRSF13C chr22 42322716 42322716 G C het . 6 +intergenic TNFRSF13C(dist=3345),CENPM(dist=8559) chr22 42326166 42326166 T C het . 2 +exonic CENPM chr22 42336172 42336172 G A het . 10 +exonic CENPM chr22 42341308 42341308 A G het . 20 +exonic CENPM chr22 42341363 42341363 G A het . 14 +exonic CENPM chr22 42341934 42341934 A G het . 10 +intronic CENPM chr22 42342870 42342870 C G het . 3 +UTR5 CENPM(NM_024053:c.-11C>T,NM_001002876:c.-11C>T,NM_001304371:c.-11C>T) chr22 42343091 42343091 G A het . 16 +intergenic CENPM(dist=2079),LINC00634(dist=2944) chr22 42345247 42345247 - A het . 2 +intronic SEPT3 chr22 42374349 42374349 G A het . 2 +intronic SEPT3 chr22 42381427 42381427 T C het . 2 +intronic SEPT3 chr22 42388841 42388841 G A het . 10 +intronic WBP2NL chr22 42395242 42395242 C G het . 2 +intronic WBP2NL chr22 42397042 42397042 G T het . 3 +intronic WBP2NL chr22 42414374 42414374 G T het . 2 +exonic WBP2NL chr22 42416056 42416056 A G het . 19 +intronic WBP2NL chr22 42418185 42418185 T C het . 8 +exonic WBP2NL chr22 42423110 42423110 G C het . 19 +intergenic WBP2NL(dist=4250),NAGA(dist=25611) chr22 42428727 42428727 A T het . 10 +intergenic WBP2NL(dist=11391),NAGA(dist=18470) chr22 42435868 42435868 C T het . 3 +intergenic WBP2NL(dist=16935),NAGA(dist=12926) chr22 42441412 42441412 C T het . 4 +intergenic WBP2NL(dist=18062),NAGA(dist=11799) chr22 42442539 42442539 A T het . 1 +intronic NAGA chr22 42463366 42463366 C T het . 6 +exonic NAGA chr22 42463814 42463814 C T het . 6 +intergenic NAGA(dist=2064),PHETA2(dist=1345) chr22 42468910 42468910 C T het . 2 +exonic PHETA2 chr22 42473603 42473603 C T het . 14 +exonic NDUFA6 chr22 42486723 42486723 G A het . 35 +ncRNA_intronic NDUFA6-DT chr22 42504424 42504424 - T het . 33 +ncRNA_intronic NDUFA6-DT chr22 42504679 42504679 A G het . 16 +ncRNA_intronic NDUFA6-DT chr22 42504726 42504726 G A het . 29 +ncRNA_intronic NDUFA6-DT chr22 42504918 42504918 G A het . 12 +exonic CYP2D6 chr22 42523943 42523943 A G het . 14 +exonic CYP2D6 chr22 42524795 42524795 A G het . 20 +exonic CYP2D6 chr22 42524814 42524815 AG GA het . 17 +exonic CYP2D6 chr22 42524820 42524820 - C het . 14 +ncRNA_intronic LOC101929829 chr22 42526549 42526549 C T het . 5 +ncRNA_intronic LOC101929829 chr22 42526561 42526562 GG TC het . 5 +ncRNA_intronic LOC101929829 chr22 42526567 42526567 G A het . 3 +ncRNA_intronic LOC101929829 chr22 42526571 42526571 C G het . 3 +ncRNA_intronic LOC101929829 chr22 42526573 42526573 T G het . 3 +ncRNA_intronic LOC101929829 chr22 42526580 42526580 G C het . 3 +exonic CYP2D7 chr22 42537271 42537271 T C het . 10 +exonic CYP2D7 chr22 42537404 42537404 G C het . 12 +exonic CYP2D7 chr22 42537597 42537597 A G het . 15 +intronic CYP2D7 chr22 42538704 42538704 G T het . 17 +exonic CYP2D7 chr22 42538876 42538876 A T het . 8 +intronic CYP2D7 chr22 42538897 42538897 A G het . 4 +intergenic CYP2D7(dist=6753),TCF20(dist=8690) chr22 42547329 42547329 G C het . 8 +intergenic CYP2D7(dist=7163),TCF20(dist=8280) chr22 42547739 42547739 G A het . 4 +exonic TCF20 chr22 42606257 42606257 C T het . 6 +intronic TCF20 chr22 42652074 42652074 G A het . 3 +intergenic TCF20(dist=67914),LINC01315(dist=12559) chr22 42747847 42747847 C A het . 2 +UTR3 NFAM1(NM_001318323:c.*199C>T,NM_145912:c.*96C>T) chr22 42781071 42781071 G A het . 2 +intronic NFAM1 chr22 42819155 42819155 A G het . 2 +intergenic NFAM1(dist=25733),SERHL(dist=42451) chr22 42854134 42854134 A - het . 2 +exonic CYB5R3 chr22 43032742 43032742 C T het . 28 +exonic CYB5R3 chr22 43032765 43032765 C T het . 35 +intronic CYB5R3 chr22 43035041 43035041 A - het . 7 +intergenic CYB5R3(dist=30543),A4GALT(dist=12170) chr22 43075948 43075948 C T het . 2 +intergenic CYB5R3(dist=33770),A4GALT(dist=8943) chr22 43079175 43079175 G C het . 2 +intergenic CYB5R3(dist=37640),A4GALT(dist=5073) chr22 43083045 43083045 C A het . 1 +exonic A4GALT chr22 43088971 43088971 C T het . 14 +exonic A4GALT chr22 43089055 43089055 G C het . 11 +exonic A4GALT chr22 43089849 43089849 T C het . 13 +intronic A4GALT chr22 43092851 43092851 A C het . 3 +intronic A4GALT chr22 43101429 43101429 G A het . 2 +intronic A4GALT chr22 43109743 43109743 A G het . 3 +intronic A4GALT chr22 43111733 43111733 A T het . 2 +intronic A4GALT chr22 43111772 43111772 C A het . 3 +intronic A4GALT chr22 43115570 43115570 G T het . 2 +intronic A4GALT chr22 43115576 43115576 T C het . 2 +intergenic A4GALT(dist=6430),ARFGAP3(dist=68795) chr22 43123737 43123737 T C het . 4 +intergenic A4GALT(dist=12054),ARFGAP3(dist=63171) chr22 43129361 43129361 A G het . 2 +intergenic A4GALT(dist=17218),ARFGAP3(dist=58007) chr22 43134525 43134525 G A het . 2 +intergenic A4GALT(dist=33146),ARFGAP3(dist=42079) chr22 43150453 43150453 C T het . 2 +intergenic A4GALT(dist=38586),ARFGAP3(dist=36639) chr22 43155893 43155893 A T het . 2 +intergenic A4GALT(dist=44687),ARFGAP3(dist=30538) chr22 43161994 43161994 A G het . 2 +intergenic A4GALT(dist=50468),ARFGAP3(dist=24757) chr22 43167775 43167775 C T het . 2 +intergenic A4GALT(dist=54960),ARFGAP3(dist=20265) chr22 43172267 43172267 C T het . 5 +intergenic A4GALT(dist=55001),ARFGAP3(dist=20224) chr22 43172308 43172308 T C het . 10 +intergenic A4GALT(dist=55182),ARFGAP3(dist=20043) chr22 43172489 43172489 G A het . 19 +intergenic A4GALT(dist=64445),ARFGAP3(dist=10778) chr22 43181752 43181754 CTT - het . 2 +intergenic A4GALT(dist=64496),ARFGAP3(dist=10729) chr22 43181803 43181803 G A het . 2 +UTR3 ARFGAP3(NM_014570:c.*271A>G,NM_001142293:c.*271A>G) chr22 43193323 43193323 T C het . 3 +exonic ARFGAP3 chr22 43195147 43195147 A G het . 10 +exonic ARFGAP3 chr22 43203137 43203137 C T het . 22 +exonic ARFGAP3 chr22 43206950 43206950 A C het . 21 +intronic ARFGAP3 chr22 43218463 43218463 C T het . 6 +intronic ARFGAP3 chr22 43219836 43219836 C G het . 12 +intronic ARFGAP3 chr22 43223095 43223095 - AT het . 8 +intronic ARFGAP3 chr22 43235156 43235156 C A het . 2 +intronic ARFGAP3 chr22 43249093 43249093 T C het . 2 +UTR3 PACSIN2(NM_001184971:c.*26_*27insG,NM_001349972:c.*26_*27insG,NM_001349971:c.*26_*27insG,NM_007229:c.*26_*27insG,NM_001349970:c.*26_*27insG,NM_001349973:c.*26_*27insG,NM_001184970:c.*26_*27insG,NM_001349974:c.*26_*27insG,NM_001349969:c.*26_*27insG,NM_001349968:c.*26_*27insG) chr22 43267336 43267336 - C het . 5 +intronic PACSIN2 chr22 43278162 43278162 T C het . 12 +exonic PACSIN2 chr22 43278220 43278220 C T het . 10 +exonic PACSIN2 chr22 43289473 43289473 G A het . 11 +intronic PACSIN2 chr22 43323561 43323561 - TTTATTTA het . 2 +intronic PACSIN2 chr22 43345063 43345063 T C het . 2 +intronic PACSIN2 chr22 43361848 43361848 T C het . 3 +intronic PACSIN2 chr22 43385826 43385826 - A het . 2 +intronic PACSIN2 chr22 43389117 43389117 T C het . 2 +intronic PACSIN2 chr22 43406673 43406673 A G het . 3 +intronic PACSIN2 chr22 43406680 43406680 G T het . 3 +exonic TTLL1 chr22 43435812 43435812 C T het . 9 +ncRNA_intronic LOC100506679 chr22 43442599 43442599 T C het . 7 +ncRNA_intronic LOC100506679 chr22 43447983 43447983 G A het . 3 +intronic TTLL1 chr22 43455246 43455246 C T het . 2 +intronic TTLL1 chr22 43459813 43459813 A G het . 12 +exonic TTLL1 chr22 43459864 43459864 G A het . 14 +intronic TTLL1 chr22 43460001 43460018 AGAGCTGCTTTTGTGTGT - het . 3 +exonic TTLL1 chr22 43465814 43465814 A G het . 19 +intronic TTLL1 chr22 43466247 43466247 G C het . 16 +intronic TTLL1 chr22 43466405 43466405 G A het . 5 +intronic TTLL1 chr22 43471386 43471386 G C het . 3 +intronic TTLL1 chr22 43478448 43478448 G A het . 4 +intronic BIK chr22 43524488 43524489 CT - het . 19 +intronic BIK chr22 43525176 43525176 C T het . 14 +downstream BIK(dist=986) chr22 43526704 43526704 C T het . 2 +UTR3 MCAT(NM_014507:c.*432G>A,NM_173467:c.*20G>A) chr22 43529029 43529029 C T het . 6 +exonic MCAT chr22 43529314 43529314 G A het . 25 +intronic MCAT chr22 43529517 43529517 C T het . 6 +intronic MCAT chr22 43533360 43533360 G T het . 7 +intronic TSPO chr22 43549739 43549739 T A het . 2 +intronic TSPO chr22 43550055 43550055 T C het . 2 +exonic TSPO chr22 43558926 43558926 A G het . 15 +exonic TSPO chr22 43558972 43558972 G A het . 20 +downstream TTLL12(dist=509) chr22 43562116 43562119 CTGA - het . 2 +intronic TTLL12 chr22 43565855 43565855 C T het . 19 +intronic TTLL12 chr22 43575616 43575616 G A het . 3 +exonic TTLL12 chr22 43576904 43576904 G A het . 9 +exonic SCUBE1 chr22 43606143 43606143 C T het . 5 +intronic SCUBE1 chr22 43618633 43618633 G - het . 5 +intronic SCUBE1 chr22 43623353 43623353 G A het . 4 +exonic SCUBE1 chr22 43623395 43623395 C G het . 13 +intronic SCUBE1 chr22 43625225 43625225 G T het . 5 +intronic SCUBE1 chr22 43670094 43670094 G A het . 2 +intronic SCUBE1 chr22 43685657 43685657 G A het . 2 +intronic SCUBE1 chr22 43699006 43699006 C G het . 2 +intergenic SCUBE1(dist=22816),LINC01639(dist=34127) chr22 43762210 43762210 T G het . 2 +intergenic SCUBE1(dist=30117),LINC01639(dist=26826) chr22 43769511 43769511 A G het . 4 +intergenic SCUBE1(dist=30135),LINC01639(dist=26808) chr22 43769529 43769529 A G het . 4 +intergenic SCUBE1(dist=30176),LINC01639(dist=26767) chr22 43769570 43769570 T C het . 3 +intronic MPPED1 chr22 43814213 43814213 G C het . 8 +intronic MPPED1 chr22 43814244 43814244 C T het . 4 +intronic MPPED1 chr22 43814254 43814254 G T het . 3 +intronic MPPED1 chr22 43816820 43816820 T C het . 2 +intronic MPPED1 chr22 43824571 43824571 C T het . 2 +exonic MPPED1 chr22 43830996 43830996 C T het . 11 +exonic MPPED1 chr22 43831056 43831056 C T het . 14 +intronic MPPED1 chr22 43857081 43857081 A G het . 3 +intronic MPPED1 chr22 43889937 43889937 A C het . 2 +intronic EFCAB6 chr22 43964478 43964478 G T het . 1 +intronic EFCAB6 chr22 43964500 43964500 G A het . 2 +intronic EFCAB6 chr22 43970057 43970057 C G het . 2 +exonic EFCAB6 chr22 43976396 43976396 G A het . 17 +intronic EFCAB6 chr22 44015927 44015927 A G het . 2 +intronic EFCAB6 chr22 44017463 44017463 C T het . 2 +intronic EFCAB6 chr22 44022171 44022171 G A het . 2 +intronic EFCAB6 chr22 44074699 44074699 T C het . 2 +intronic EFCAB6 chr22 44079557 44079557 G A het . 11 +intronic EFCAB6 chr22 44081866 44081866 T - het . 3 +exonic EFCAB6 chr22 44083442 44083442 T C het . 15 +intronic EFCAB6 chr22 44083671 44083671 C T het . 3 +intronic EFCAB6 chr22 44110479 44110479 C T het . 2 +intronic EFCAB6 chr22 44110516 44110516 A G het . 3 +exonic EFCAB6 chr22 44112845 44112845 C T het . 14 +intronic EFCAB6 chr22 44129110 44129110 A G het . 2 +intronic EFCAB6 chr22 44172642 44172642 A G het . 2 +intronic EFCAB6 chr22 44177972 44177972 A G het . 7 +exonic EFCAB6 chr22 44178146 44178146 C T het . 24 +intronic EFCAB6 chr22 44181258 44181258 C T het . 2 +intronic EFCAB6 chr22 44198411 44198411 A - het . 7 +intronic EFCAB6 chr22 44199299 44199299 G C het . 11 +intronic SULT4A1 chr22 44229492 44229492 G C het . 7 +intronic SULT4A1 chr22 44258036 44258036 G C het . 3 +intergenic PNPLA5(dist=9384),PNPLA3(dist=22342) chr22 44297277 44297277 T G het . 2 +intergenic PNPLA5(dist=12406),PNPLA3(dist=19320) chr22 44300299 44300299 C T het . 3 +intergenic PNPLA5(dist=12474),PNPLA3(dist=19252) chr22 44300367 44300367 T G het . 2 +intronic PNPLA3 chr22 44323074 44323074 G A het . 19 +intronic PNPLA3 chr22 44324676 44324676 A G het . 18 +exonic PNPLA3 chr22 44328832 44328832 C T het . 26 +intronic PNPLA3 chr22 44335671 44335672 GG - het . 3 +intronic PNPLA3 chr22 44341986 44341986 T C het . 3 +exonic PNPLA3 chr22 44342116 44342116 A G het . 22 +UTR3 PNPLA3(NM_025225:c.*63C>T) chr22 44342325 44342325 C T het . 12 +intronic SAMM50 chr22 44352866 44352866 C T het . 7 +intronic SAMM50 chr22 44364594 44364594 C T het . 14 +intronic SAMM50 chr22 44364794 44364794 T C het . 9 +exonic SAMM50 chr22 44368204 44368204 A G het . 9 +intronic SAMM50 chr22 44368741 44368741 C T het . 3 +intronic SAMM50 chr22 44371725 44371725 C G het . 7 +exonic SAMM50 chr22 44379822 44379822 T C het . 3 +exonic SAMM50 chr22 44379838 44379838 A G het . 4 +exonic PARVB chr22 44395451 44395451 T C het . 19 +intronic PARVB chr22 44402641 44402641 C T het . 2 +intronic PARVB chr22 44422986 44422986 C G het . 2 +intronic PARVB chr22 44452318 44452318 A G het . 2 +intronic PARVB chr22 44454642 44454642 G C het . 2 +UTR5 PARVB(NM_001243385:c.-6C>T) chr22 44465036 44465036 C T het . 26 +intronic PARVB chr22 44481299 44481299 C T het . 3 +exonic PARVB chr22 44489868 44489868 T C het . 17 +exonic PARVB chr22 44489896 44489896 T C het . 11 +intronic PARVB chr22 44504005 44504005 C T het . 3 +intronic PARVB chr22 44512795 44512795 A G het . 2 +intronic PARVB chr22 44512808 44512808 T C het . 1 +intronic PARVB chr22 44513473 44513473 T C het . 1 +intronic PARVB chr22 44514809 44514809 C T het . 3 +intronic PARVB chr22 44515806 44515806 G C het . 8 +intronic PARVB chr22 44525634 44525635 TG CA het . 4 +intronic PARVB chr22 44540817 44540817 C - het . 2 +intronic PARVB chr22 44546419 44546419 C T het . 2 +intronic PARVB chr22 44564407 44564407 C T het . 8 +intergenic PARVB(dist=2323),PARVG(dist=1401) chr22 44567435 44567435 A G het . 2 +intronic PARVG chr22 44582499 44582499 T C het . 22 +exonic PARVG chr22 44586522 44586522 C T het . 11 +intronic PARVG chr22 44594476 44594476 T C het . 13 +exonic PARVG chr22 44594584 44594584 C G het . 18 +exonic PARVG chr22 44602229 44602229 A C het . 10 +intergenic PARVG(dist=8754),SHISAL1(dist=26454) chr22 44613103 44613103 C T het . 5 +intergenic PARVG(dist=12908),SHISAL1(dist=22300) chr22 44617257 44617257 G A het . 2 +intergenic PARVG(dist=33072),SHISAL1(dist=2136) chr22 44637421 44637421 G A het . 3 +intergenic PARVG(dist=33121),SHISAL1(dist=2087) chr22 44637470 44637470 C G het . 5 +intergenic PARVG(dist=33146),SHISAL1(dist=2062) chr22 44637495 44637495 G T het . 2 +intronic SHISAL1 chr22 44672019 44672019 A C het . 2 +exonic SHISAL1 chr22 44681612 44681612 A G het . 10 +intronic SHISAL1 chr22 44682952 44682952 G - het . 2 +intronic SHISAL1 chr22 44692540 44692540 A G het . 10 +intergenic SHISAL1(dist=52900),LINC01656(dist=77576) chr22 44761631 44761631 C T het . 10 +intergenic SHISAL1(dist=53066),LINC01656(dist=77410) chr22 44761797 44761797 T A het . 10 +intergenic SHISAL1(dist=53153),LINC01656(dist=77323) chr22 44761884 44761884 G A het . 5 +intergenic SHISAL1(dist=54546),LINC01656(dist=75930) chr22 44763277 44763277 T C het . 2 +intergenic SHISAL1(dist=73534),LINC01656(dist=56942) chr22 44782265 44782265 T C het . 2 +intergenic SHISAL1(dist=103305),LINC01656(dist=27171) chr22 44812036 44812036 G A het . 2 +intergenic SHISAL1(dist=108225),LINC01656(dist=22251) chr22 44816956 44816956 A T het . 3 +intergenic SHISAL1(dist=108259),LINC01656(dist=22217) chr22 44816990 44816990 T C het . 2 +intergenic SHISAL1(dist=108262),LINC01656(dist=22214) chr22 44816993 44816993 C A het . 2 +intergenic SHISAL1(dist=108724),LINC01656(dist=21752) chr22 44817455 44817455 T A het . 2 +intergenic SHISAL1(dist=109463),LINC01656(dist=21013) chr22 44818194 44818194 T G het . 3 +intergenic RTL6(dist=69159),LINC00207(dist=2056) chr22 44963164 44963164 G A het . 4 +intergenic RTL6(dist=69178),LINC00207(dist=2037) chr22 44963183 44963183 A C het . 8 +ncRNA_exonic LINC00207 chr22 44965320 44965320 G A het . 20 +ncRNA_intronic LINC00207 chr22 44967767 44967767 C G het . 6 +ncRNA_intronic LINC00229 chr22 45002548 45002548 G A het . 3 +exonic PRR5 chr22 45075738 45075738 T C het . 11 +intronic PRR5,PRR5-ARHGAP8 chr22 45107020 45107020 T C het . 3 +intronic PRR5,PRR5-ARHGAP8 chr22 45114848 45114848 C T het . 2 +intronic PRR5,PRR5-ARHGAP8 chr22 45116127 45116127 G A het . 3 +exonic PRR5 chr22 45128232 45128232 T C het . 15 +intronic PRR5,PRR5-ARHGAP8 chr22 45128288 45128288 G C het . 7 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45151739 45151739 T A het . 2 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45166168 45166168 C A het . 3 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45166390 45166390 G A het . 2 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45187232 45187232 A C het . 1 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45190168 45190170 ATT - het . 2 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45194092 45194092 G T het . 2 +exonic ARHGAP8,PRR5-ARHGAP8 chr22 45198009 45198009 A G het . 18 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45204521 45204521 T - het . 10 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45218211 45218211 C T het . 13 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45218223 45218223 C T het . 13 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45223698 45223698 G A het . 2 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45230724 45230724 A - het . 2 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45231570 45231570 G A het . 2 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45238232 45238232 A G het . 3 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45241303 45241303 C T het . 5 +exonic ARHGAP8,PRR5-ARHGAP8 chr22 45244930 45244930 C T het . 8 +intronic ARHGAP8,PRR5-ARHGAP8 chr22 45252232 45252232 C T het . 2 +UTR3 ARHGAP8(NM_181335:c.*20A>G,NM_001198726:c.*300A>G,NM_001017526:c.*20A>G),PRR5-ARHGAP8(NM_181334:c.*20A>G) chr22 45258495 45258495 A G het . 2 +intronic PHF21B chr22 45281635 45281635 G A het . 3 +intronic PHF21B chr22 45291833 45291833 A G het . 7 +intronic PHF21B chr22 45309653 45309653 C T het . 3 +intronic PHF21B chr22 45316507 45316507 T A het . 2 +intronic PHF21B chr22 45319212 45319212 A - het . 2 +intronic PHF21B chr22 45373686 45373686 C T het . 2 +intronic PHF21B chr22 45376525 45376525 A G het . 3 +intronic PHF21B chr22 45404335 45404335 G C het . 9 +intergenic PHF21B(dist=5380),NUP50-DT(dist=118450) chr22 45411189 45411189 - T het . 3 +intergenic PHF21B(dist=9037),NUP50-DT(dist=114793) chr22 45414846 45414846 C G het . 2 +intergenic PHF21B(dist=15433),NUP50-DT(dist=108397) chr22 45421242 45421242 C T het . 2 +intergenic PHF21B(dist=29393),NUP50-DT(dist=94437) chr22 45435202 45435202 T C het . 3 +intergenic PHF21B(dist=35633),NUP50-DT(dist=88197) chr22 45441442 45441442 G A het . 2 +intergenic PHF21B(dist=36700),NUP50-DT(dist=87130) chr22 45442509 45442509 C A het . 3 +intergenic PHF21B(dist=41106),NUP50-DT(dist=82724) chr22 45446915 45446915 G - het . 2 +intergenic PHF21B(dist=48109),NUP50-DT(dist=75721) chr22 45453918 45453918 G A het . 2 +intergenic PHF21B(dist=77774),NUP50-DT(dist=46056) chr22 45483583 45483583 T C het . 2 +intergenic PHF21B(dist=87074),NUP50-DT(dist=36756) chr22 45492883 45492883 C A het . 5 +intergenic PHF21B(dist=95658),NUP50-DT(dist=28172) chr22 45501467 45501467 C G het . 2 +intergenic PHF21B(dist=95668),NUP50-DT(dist=28162) chr22 45501477 45501477 A G het . 2 +intergenic PHF21B(dist=106083),NUP50-DT(dist=17747) chr22 45511892 45511892 T G het . 2 +intronic NUP50 chr22 45560707 45560707 T C het . 2 +intronic NUP50 chr22 45565937 45565937 G A het . 12 +intronic NUP50 chr22 45565946 45565946 C T het . 13 +intronic NUP50 chr22 45570594 45570594 C T het . 2 +ncRNA_intronic LOC105373064 chr22 45579422 45579422 A G het . 16 +ncRNA_intronic LOC105373064 chr22 45580572 45580573 GC - het . 14 +intronic KIAA0930 chr22 45593661 45593661 C T het . 12 +exonic KIAA0930 chr22 45599781 45599781 A C het . 8 +intronic KIAA0930 chr22 45603033 45603033 G C het . 2 +UTR5 KIAA0930(NM_015264:c.-123C>T) chr22 45608347 45608347 G A het . 3 +intronic KIAA0930 chr22 45608360 45608360 G C het . 2 +intronic KIAA0930 chr22 45630869 45630869 T C het . 2 +intronic KIAA0930 chr22 45630875 45630875 T C het . 2 +intronic KIAA0930 chr22 45630880 45630880 - T het . 2 +intronic KIAA0930 chr22 45635216 45635216 C T het . 2 +intergenic KIAA0930(dist=1590),UPK3A(dist=42628) chr22 45638240 45638240 C T het . 2 +intergenic KIAA0930(dist=1596),UPK3A(dist=42622) chr22 45638246 45638246 A - het . 2 +intergenic KIAA0930(dist=4741),UPK3A(dist=39477) chr22 45641391 45641391 G T het . 2 +intergenic KIAA0930(dist=4761),UPK3A(dist=39457) chr22 45641411 45641411 T G het . 2 +intergenic KIAA0930(dist=4770),UPK3A(dist=39448) chr22 45641420 45641420 T C het . 2 +intergenic KIAA0930(dist=7120),UPK3A(dist=37098) chr22 45643770 45643770 T A het . 2 +intergenic KIAA0930(dist=7150),UPK3A(dist=37066) chr22 45643800 45643802 GTT - het . 2 +intergenic KIAA0930(dist=8804),UPK3A(dist=35414) chr22 45645454 45645454 C T het . 1 +intergenic KIAA0930(dist=8817),UPK3A(dist=35401) chr22 45645467 45645467 T C het . 2 +intergenic KIAA0930(dist=8819),UPK3A(dist=35399) chr22 45645469 45645469 G A het . 2 +intergenic KIAA0930(dist=17584),UPK3A(dist=26634) chr22 45654234 45654234 A C het . 2 +intergenic KIAA0930(dist=41080),UPK3A(dist=3138) chr22 45677730 45677730 A G het . 2 +upstream UPK3A(dist=44) chr22 45680824 45680824 A G het . 4 +intronic UPK3A chr22 45682975 45682975 A G het . 4 +exonic UPK3A chr22 45683246 45683246 C T het . 13 +exonic UPK3A chr22 45683304 45683304 G C het . 13 +intronic UPK3A chr22 45684098 45684098 T C het . 2 +exonic UPK3A chr22 45691594 45691594 A G het . 9 +intergenic UPK3A(dist=5379),FAM118A(dist=7707) chr22 45697134 45697134 T C het . 2 +intronic FAM118A chr22 45723116 45723116 A G het . 3 +intronic FAM118A chr22 45723584 45723584 G A het . 4 +exonic FAM118A chr22 45723807 45723807 G C het . 34 +exonic FAM118A chr22 45723842 45723842 G A het . 33 +exonic FAM118A chr22 45723854 45723854 C G het . 35 +intronic FAM118A chr22 45724855 45724855 T A het . 2 +intronic FAM118A chr22 45726345 45726345 A G het . 3 +exonic FAM118A chr22 45728370 45728370 G A het . 13 +intronic FAM118A chr22 45731182 45731182 C T het . 15 +intronic FAM118A chr22 45732328 45732328 G A het . 7 +intronic FAM118A chr22 45736153 45736153 G A het . 11 +UTR3 FAM118A(NM_001104595:c.*148C>G,NM_017911:c.*148C>G,NM_001349916:c.*148C>G,NM_001349915:c.*148C>G,NM_001349914:c.*148C>G,NM_001349913:c.*148C>G) chr22 45736434 45736434 C G het . 6 +intronic SMC1B chr22 45741320 45741320 C T het . 6 +intronic SMC1B chr22 45741543 45741543 G C het . 9 +intronic SMC1B chr22 45744608 45744608 G T het . 1 +intronic SMC1B chr22 45748236 45748236 A G het . 3 +exonic SMC1B chr22 45749983 45749983 G T het . 8 +intronic SMC1B chr22 45751231 45751231 G A het . 3 +intronic SMC1B chr22 45754558 45754558 A G het . 13 +intronic SMC1B chr22 45755666 45755666 C T het . 10 +intronic SMC1B chr22 45758758 45758758 T C het . 18 +exonic SMC1B chr22 45767391 45767391 C T het . 14 +exonic SMC1B chr22 45767455 45767455 A G het . 9 +intronic SMC1B chr22 45767599 45767599 G A het . 6 +intronic SMC1B chr22 45767946 45767946 G A het . 1 +intronic SMC1B chr22 45768495 45768495 T C het . 2 +intronic SMC1B chr22 45779335 45779335 A G het . 8 +intronic SMC1B chr22 45779553 45779553 C T het . 5 +exonic SMC1B chr22 45782903 45782903 T C het . 22 +exonic SMC1B chr22 45785594 45785594 C A het . 11 +intronic SMC1B chr22 45785840 45785840 A G het . 3 +exonic SMC1B chr22 45789642 45789642 A C het . 39 +intronic SMC1B chr22 45789748 45789748 C A het . 25 +intronic SMC1B chr22 45794925 45794925 C A het . 17 +intronic SMC1B chr22 45804414 45804414 A T het . 5 +intronic RIBC2 chr22 45810049 45810049 C T het . 2 +exonic RIBC2 chr22 45810278 45810278 - C het . 20 +intronic RIBC2 chr22 45813434 45813434 T - het . 6 +exonic RIBC2 chr22 45821887 45821887 G A het . 29 +exonic RIBC2 chr22 45821956 45821956 C G het . 39 +exonic RIBC2 chr22 45826880 45826880 G A het . 8 +intronic RIBC2 chr22 45828033 45828033 A G het . 4 +intergenic RIBC2(dist=8730),FBLN1(dist=61686) chr22 45837032 45837033 TC AA het . 2 +intergenic RIBC2(dist=32053),FBLN1(dist=38364) chr22 45860355 45860355 C A het . 2 +intergenic RIBC2(dist=58799),FBLN1(dist=11618) chr22 45887101 45887101 T C het . 2 +upstream FBLN1(dist=722) chr22 45897997 45897997 T C het . 2 +upstream FBLN1(dist=645) chr22 45898074 45898074 T C het . 5 +upstream FBLN1(dist=602) chr22 45898117 45898117 T C het . 8 +upstream FBLN1(dist=589) chr22 45898130 45898130 A T het . 11 +upstream FBLN1(dist=467) chr22 45898252 45898252 T G het . 7 +intronic FBLN1 chr22 45914461 45914461 G A het . 4 +exonic FBLN1 chr22 45923827 45923827 A G het . 26 +exonic FBLN1 chr22 45923888 45923888 G A het . 22 +intronic FBLN1 chr22 45929348 45929348 C T het . 3 +intronic FBLN1 chr22 45929577 45929577 T C het . 14 +intronic FBLN1 chr22 45929595 45929595 G - het . 15 +intronic FBLN1 chr22 45931262 45931262 C T het . 11 +intronic FBLN1 chr22 45943203 45943203 A G het . 4 +UTR3 FBLN1(NM_006487:c.*75G>A) chr22 45954029 45954029 G A het . 8 +intronic FBLN1 chr22 45961904 45961904 G T het . 6 +intronic FBLN1 chr22 45981294 45981294 G A het . 2 +intronic FBLN1 chr22 45991615 45991615 G A het . 4 +intronic FBLN1 chr22 45991642 45991642 A G het . 5 +intronic FBLN1 chr22 45991645 45991645 A G het . 5 +intronic FBLN1 chr22 45991658 45991658 G A het . 3 +intronic FBLN1 chr22 45991681 45991681 A G het . 3 +intronic ATXN10 chr22 46089008 46089008 A G het . 24 +intronic ATXN10 chr22 46114147 46114147 C T het . 7 +intronic ATXN10 chr22 46114398 46114398 G T het . 28 +intronic ATXN10 chr22 46195992 46195992 G A het . 2 +intronic WNT7B chr22 46368130 46368130 T C het . 8 +intergenic WNT7B(dist=25551),LOC730668(dist=3933) chr22 46398559 46398563 AAAAA - het . 2 +intronic PRR34 chr22 46447795 46447795 - A het . 4 +exonic PRR34 chr22 46449891 46449891 G C het . 2 +exonic PKDREJ chr22 46653414 46653414 C A het . 20 +exonic TTC38 chr22 46677607 46677607 T C het . 12 +exonic GTSE1 chr22 46708102 46708103 GG AA het . 15 +exonic GTSE1 chr22 46722400 46722400 T C het . 11 +intronic GTSE1 chr22 46724558 46724558 T C het . 9 +intronic TRMU chr22 46739097 46739098 TT - het . 16 +intronic TRMU chr22 46739289 46739289 T - het . 33 +intronic CELSR1 chr22 46765181 46765181 - TCAGGTCGCCGAC het . 9 +exonic CELSR1 chr22 46780521 46780521 T C het . 16 +exonic CELSR1 chr22 46782382 46782382 C T het . 9 +intronic CELSR1 chr22 46785131 46785131 C T het . 5 +exonic CELSR1 chr22 46786315 46786315 T C het . 12 +exonic CELSR1 chr22 46787694 46787694 A G het . 9 +exonic CELSR1 chr22 46787697 46787697 A G het . 9 +intronic CELSR1 chr22 46790029 46790029 G T het . 14 +intronic CELSR1 chr22 46792689 46792689 C A het . 5 +intronic CELSR1 chr22 46795523 46795523 T C het . 2 +exonic CELSR1 chr22 46860088 46860088 G C het . 20 +exonic CELSR1 chr22 46860223 46860223 C T het . 6 +intronic CELSR1 chr22 46877389 46877389 G A het . 5 +intronic CELSR1 chr22 46879233 46879233 A G het . 2 +intronic CELSR1 chr22 46894244 46894244 C T het . 3 +intronic CELSR1 chr22 46894544 46894544 C T het . 3 +intronic CELSR1 chr22 46899939 46899939 A G het . 2 +intronic CELSR1 chr22 46900134 46900134 A G het . 2 +intronic CELSR1 chr22 46913774 46913774 T C het . 2 +exonic CELSR1 chr22 46929692 46929692 A G het . 12 +exonic CELSR1 chr22 46931077 46931077 G C het . 8 +exonic CELSR1 chr22 46931793 46931793 G C het . 2 +exonic CELSR1 chr22 46931838 46931838 G A het . 5 +intergenic CELSR1(dist=7288),GRAMD4(dist=75941) chr22 46940355 46940358 AAAA - het . 2 +intergenic CELSR1(dist=19781),GRAMD4(dist=63451) chr22 46952848 46952848 G C het . 3 +intergenic CELSR1(dist=27975),GRAMD4(dist=55257) chr22 46961042 46961042 A G het . 3 +intergenic CELSR1(dist=28645),GRAMD4(dist=54587) chr22 46961712 46961712 C T het . 3 +intergenic CELSR1(dist=28772),GRAMD4(dist=54460) chr22 46961839 46961839 G A het . 2 +intergenic CELSR1(dist=43883),GRAMD4(dist=39349) chr22 46976950 46976950 C T het . 4 +intergenic CELSR1(dist=54922),GRAMD4(dist=28310) chr22 46987989 46987989 G A het . 2 +intergenic CELSR1(dist=54928),GRAMD4(dist=28304) chr22 46987995 46987995 T C het . 2 +intergenic CELSR1(dist=72885),GRAMD4(dist=10347) chr22 47005952 47005952 T C het . 2 +exonic GRAMD4 chr22 47058992 47058992 T C het . 11 +intronic GRAMD4 chr22 47060384 47060384 - A het . 2 +intronic GRAMD4 chr22 47064075 47064075 G A het . 13 +UTR3 CERK(NM_022766:c.*192T>C) chr22 47082839 47082839 A G het . 7 +UTR3 CERK(NM_022766:c.*21A>G) chr22 47083010 47083010 T C het . 20 +UTR3 CERK(NM_022766:c.*19A>T) chr22 47083012 47083012 T A het . 20 +intronic CERK chr22 47087347 47087347 A G het . 4 +exonic CERK chr22 47087670 47087670 G A het . 10 +intronic CERK chr22 47097505 47097505 C T het . 3 +intronic CERK chr22 47109073 47109073 A G het . 2 +intronic CERK chr22 47123350 47123350 T C het . 2 +intronic TBC1D22A chr22 47177236 47177236 T C het . 2 +intronic TBC1D22A chr22 47185265 47185265 G T het . 6 +intronic TBC1D22A chr22 47201777 47201777 C T het . 2 +intronic TBC1D22A chr22 47208009 47208009 C T het . 2 +intronic TBC1D22A chr22 47232375 47232375 T C het . 2 +intronic TBC1D22A chr22 47274638 47274638 C T het . 15 +intronic TBC1D22A chr22 47290858 47290858 T C het . 4 +ncRNA_exonic TBC1D22A-AS1 chr22 47311404 47311404 A T het . 29 +intronic TBC1D22A chr22 47314090 47314090 T C het . 2 +intronic TBC1D22A chr22 47458024 47458024 T C het . 3 +intronic TBC1D22A chr22 47483994 47483994 - AAA het . 4 +intronic TBC1D22A chr22 47502857 47502857 T C het . 3 +intergenic TBC1D22A(dist=51740),LOC339685(dist=118239) chr22 47623082 47623082 T - het . 2 +intergenic TBC1D22A(dist=53007),LOC339685(dist=116972) chr22 47624349 47624349 C T het . 2 +intergenic TBC1D22A(dist=54306),LOC339685(dist=115673) chr22 47625648 47625648 G T het . 2 +intergenic TBC1D22A(dist=60663),LOC339685(dist=109316) chr22 47632005 47632005 T G het . 2 +intergenic TBC1D22A(dist=60677),LOC339685(dist=109302) chr22 47632019 47632019 G T het . 2 +intergenic TBC1D22A(dist=77089),LOC339685(dist=92890) chr22 47648431 47648431 A G het . 1 +intergenic TBC1D22A(dist=77099),LOC339685(dist=92880) chr22 47648441 47648441 G A het . 2 +ncRNA_intronic LOC339685 chr22 47750266 47750266 - TCTT het . 2 +ncRNA_intronic LOC339685 chr22 47753575 47753575 A G het . 2 +ncRNA_intronic LOC339685 chr22 47758962 47758962 A G het . 2 +ncRNA_exonic LOC339685 chr22 47766657 47766657 C T het . 2 +intergenic LOC339685(dist=38165),LINC01644(dist=49592) chr22 47807456 47807456 C G het . 2 +intergenic LOC339685(dist=39909),LINC01644(dist=47848) chr22 47809200 47809200 T C het . 1 +intergenic LOC339685(dist=64003),LINC01644(dist=23754) chr22 47833294 47833294 G A het . 2 +ncRNA_intronic LINC01644 chr22 47872542 47872542 G A het . 2 +intergenic LINC01644(dist=3296),LINC00898(dist=130636) chr22 47886156 47886156 A T het . 2 +intergenic LINC01644(dist=34580),LINC00898(dist=99352) chr22 47917440 47917440 C T het . 2 +ncRNA_intronic LOC284930 chr22 48072060 48072060 T A het . 2 +ncRNA_intronic LOC284930 chr22 48098090 48098104 TCCTTCTCCTTCTCC - het . 3 +ncRNA_intronic LOC284930 chr22 48114678 48114678 C G het . 3 +ncRNA_intronic LOC284930 chr22 48132940 48132940 G A het . 2 +ncRNA_intronic LOC284930 chr22 48133013 48133013 T C het . 3 +ncRNA_intronic LOC284930 chr22 48156377 48156377 T C het . 2 +ncRNA_intronic LOC284930 chr22 48230941 48230941 A C het . 2 +ncRNA_intronic LOC284930 chr22 48244985 48244985 C A het . 2 +ncRNA_intronic LOC284930 chr22 48249360 48249365 AGAGGA - het . 2 +intergenic LOC284930(dist=22522),MIR3201(dist=396305) chr22 48273871 48273871 T C het . 2 +intergenic LOC284930(dist=40420),MIR3201(dist=378407) chr22 48291769 48291769 T - het . 2 +intergenic LOC284930(dist=84590),MIR3201(dist=334234) chr22 48335939 48335942 GTGA - het . 2 +intergenic LOC284930(dist=169591),MIR3201(dist=249236) chr22 48420940 48420940 A G het . 2 +intergenic LOC284930(dist=241611),MIR3201(dist=177216) chr22 48492960 48492960 T G het . 2 +intergenic MIR3201(dist=94516),FAM19A5(dist=120529) chr22 48764743 48764743 - A het . 2 +intergenic MIR3201(dist=161180),FAM19A5(dist=53865) chr22 48831407 48831407 T - het . 2 +intergenic MIR3201(dist=168118),FAM19A5(dist=46927) chr22 48838345 48838345 A G het . 2 +intergenic MIR3201(dist=170700),FAM19A5(dist=44345) chr22 48840927 48840927 G A het . 2 +intronic FAM19A5 chr22 48908037 48908037 T C het . 3 +ncRNA_exonic LOC284933 chr22 48940553 48940553 T C het . 27 +ncRNA_exonic LOC284933 chr22 48940644 48940644 C T het . 27 +intronic FAM19A5 chr22 48950529 48950529 T C het . 3 +intronic FAM19A5 chr22 49009748 49009748 A G het . 3 +intronic FAM19A5 chr22 49051618 49051618 G C het . 2 +intronic FAM19A5 chr22 49078625 49078625 C T het . 2 +intronic FAM19A5 chr22 49103380 49103380 A G het . 2 +intronic FAM19A5 chr22 49103660 49103660 T C het . 13 +intronic FAM19A5 chr22 49119597 49119597 C T het . 2 +intergenic MIR4535(dist=17232),LINC01310(dist=69185) chr22 49193397 49193397 A G het . 3 +intergenic MIR4535(dist=33958),LINC01310(dist=52459) chr22 49210123 49210123 A C het . 2 +intergenic MIR4535(dist=38938),LINC01310(dist=47479) chr22 49215103 49215103 G T het . 2 +intergenic MIR4535(dist=51013),LINC01310(dist=35404) chr22 49227178 49227178 T C het . 2 +intergenic MIR4535(dist=51922),LINC01310(dist=34495) chr22 49228087 49228087 - AAAC het . 2 +intergenic MIR4535(dist=84897),LINC01310(dist=1520) chr22 49261062 49261062 G A het . 2 +ncRNA_intronic LINC01310 chr22 49287060 49287060 T C het . 2 +intergenic LINC01310(dist=24531),NONE(dist=NONE) chr22 49318729 49318729 C T het . 2 +intergenic LINC01310(dist=39742),NONE(dist=NONE) chr22 49333940 49333940 A G het . 2 +intergenic LINC01310(dist=42258),NONE(dist=NONE) chr22 49336456 49336456 A G het . 2 +intergenic LINC01310(dist=49583),NONE(dist=NONE) chr22 49343781 49343781 A C het . 2 +intergenic LINC01310(dist=94104),NONE(dist=NONE) chr22 49388302 49388305 AGAC - het . 2 +intergenic LINC01310(dist=106186),NONE(dist=NONE) chr22 49400384 49400384 C T het . 2 +intergenic LINC01310(dist=138740),NONE(dist=NONE) chr22 49432938 49432938 A G het . 2 +intergenic LINC01310(dist=229938),NONE(dist=NONE) chr22 49524136 49524136 A G het . 3 +intergenic LINC01310(dist=229970),NONE(dist=NONE) chr22 49524168 49524168 A T het . 2 +intergenic LINC01310(dist=271506),NONE(dist=NONE) chr22 49565704 49565704 G A het . 2 +intergenic LINC01310(dist=303737),NONE(dist=NONE) chr22 49597935 49597935 T G het . 3 +intergenic LINC01310(dist=303753),NONE(dist=NONE) chr22 49597951 49597951 T A het . 3 +intergenic LINC01310(dist=312136),NONE(dist=NONE) chr22 49606334 49606334 T C het . 2 +intergenic LINC01310(dist=315488),NONE(dist=NONE) chr22 49609686 49609686 G A het . 2 +intergenic LINC01310(dist=315491),NONE(dist=NONE) chr22 49609689 49609689 C A het . 2 +intergenic LINC01310(dist=315702),NONE(dist=NONE) chr22 49609900 49609900 T C het . 3 +intergenic LINC01310(dist=344125),NONE(dist=NONE) chr22 49638323 49638323 C T het . 2 +intergenic LINC01310(dist=414026),NONE(dist=NONE) chr22 49708224 49708224 T C het . 2 +intergenic LINC01310(dist=448224),NONE(dist=NONE) chr22 49742422 49742422 T C het . 2 +intergenic LINC01310(dist=448236),NONE(dist=NONE) chr22 49742434 49742434 G A het . 2 +intergenic LINC01310(dist=449073),NONE(dist=NONE) chr22 49743271 49743271 A G het . 2 +intergenic LINC01310(dist=452316),NONE(dist=NONE) chr22 49746514 49746514 G C het . 2 +intergenic LINC01310(dist=500211),NONE(dist=NONE) chr22 49794409 49794409 C A het . 2 +intergenic LINC01310(dist=501581),NONE(dist=NONE) chr22 49795779 49795779 C T het . 3 +intergenic LINC01310(dist=540549),MIR3667(dist=102294) chr22 49834747 49834747 C T het . 5 +intergenic LINC01310(dist=587436),MIR3667(dist=55407) chr22 49881634 49881634 G A het . 4 +intergenic MIR3667(dist=42117),C22orf34(dist=34873) chr22 49979231 49979231 C G het . 2 +intergenic MIR3667(dist=66191),C22orf34(dist=10799) chr22 50003305 50003305 G C het . 2 +intergenic C22orf34(dist=25106),BRD1(dist=90630) chr22 50076296 50076296 G C het . 2 +intergenic C22orf34(dist=31781),BRD1(dist=83955) chr22 50082971 50082971 C G het . 2 +intergenic C22orf34(dist=39053),BRD1(dist=76683) chr22 50090243 50090243 A T het . 2 +intergenic C22orf34(dist=43178),BRD1(dist=72558) chr22 50094368 50094368 T C het . 2 +intergenic C22orf34(dist=45723),BRD1(dist=70013) chr22 50096913 50096913 C G het . 1 +intronic BRD1 chr22 50212285 50212285 T C het . 2 +intronic ZBED4 chr22 50265777 50265777 A G het . 2 +intronic ZBED4 chr22 50265784 50265784 A C het . 2 +intronic ZBED4 chr22 50272515 50272515 A G het . 2 +exonic ZBED4 chr22 50277835 50277835 T C het . 3 +exonic ZBED4 chr22 50277883 50277883 A G het . 4 +exonic ZBED4 chr22 50278568 50278568 A G het . 6 +exonic ZBED4 chr22 50278642 50278642 C T het . 10 +exonic ZBED4 chr22 50280136 50280136 T C het . 3 +downstream ZBED4(dist=352) chr22 50284078 50284078 A G het . 2 +exonic ALG12 chr22 50302991 50302991 C A het . 37 +exonic PIM3 chr22 50354819 50354819 C A het . 11 +ncRNA_exonic MIR6821 chr22 50356555 50356555 T C het . 1 +exonic PIM3 chr22 50356693 50356693 T C het . 14 +intronic IL17REL chr22 50437976 50437976 G T het . 8 +exonic TTLL8 chr22 50480108 50480108 C T het . 9 +intronic TTLL8 chr22 50483889 50483889 A G het . 3 +intronic TTLL8 chr22 50483926 50483926 T C het . 3 +intronic TTLL8 chr22 50485793 50485793 T C het . 5 +intronic TTLL8 chr22 50487567 50487567 T C het . 2 +intronic TTLL8 chr22 50488805 50488807 TTT - het . 5 +UTR3 MLC1(NM_139202:c.*48A>G,NM_015166:c.*48A>G) chr22 50499964 50499964 T C het . 18 +intronic MLC1 chr22 50502447 50502447 C T het . 7 +intronic MLC1 chr22 50515459 50515459 G A het . 2 +intronic MLC1 chr22 50518722 50518723 CA AG het . 17 +intronic MLC1 chr22 50518723 50518723 A G het . 17 +intronic MOV10L1 chr22 50530651 50530651 G A het . 9 +exonic MOV10L1 chr22 50537980 50537980 G A het . 10 +exonic MOV10L1 chr22 50547247 50547247 A G het . 3 +intronic MOV10L1 chr22 50553094 50553094 T G het . 16 +intronic MOV10L1 chr22 50555486 50555486 G C het . 4 +exonic MOV10L1 chr22 50555619 50555619 C T het . 13 +exonic MOV10L1 chr22 50555686 50555686 A C het . 26 +intronic MOV10L1 chr22 50563708 50563708 C T het . 10 +intronic MOV10L1 chr22 50563743 50563743 C A het . 15 +intronic MOV10L1 chr22 50564535 50564535 T C het . 6 +intronic MOV10L1 chr22 50566970 50566975 TTTTTT - het . 3 +intronic MOV10L1 chr22 50572406 50572406 A G het . 9 +exonic MOV10L1 chr22 50582626 50582626 A G het . 10 +UTR5 MOV10L1(NM_001164106:c.-43G>A) chr22 50585528 50585528 G A het . 6 +intronic MOV10L1 chr22 50587979 50587979 T G het . 13 +exonic MOV10L1 chr22 50589196 50589196 C A het . 18 +intronic MOV10L1 chr22 50599111 50599111 T C het . 11 +exonic PANX2 chr22 50616656 50616656 T C het . 4 +UTR3 PANX2(NM_052839:c.*20C>T,NM_001160300:c.*37C>T) chr22 50617726 50617726 C T het . 4 +intronic TRABD chr22 50625449 50625449 C T het . 2 +intronic TRABD chr22 50631945 50631945 C T het . 11 +UTR3 TRABD(NM_001320484:c.*649G>C,NM_025204:c.*649G>C,NM_001320485:c.*649G>C,NM_001320487:c.*649G>C,NM_001320488:c.*40G>C) chr22 50637597 50637597 G C het . 20 +exonic SELENOO chr22 50639528 50639528 T C het . 3 +exonic SELENOO chr22 50639965 50639965 C A het . 5 +intronic SELENOO chr22 50646936 50646936 G C het . 6 +intronic SELENOO chr22 50649355 50649355 C T het . 5 +exonic TUBGCP6 chr22 50657010 50657010 C G het . 11 +intronic TUBGCP6 chr22 50658053 50658053 A G het . 5 +exonic TUBGCP6 chr22 50664612 50664612 A G het . 9 +intronic TUBGCP6 chr22 50666210 50666210 G A het . 4 +intronic TUBGCP6 chr22 50672097 50672097 T C het . 3 +intronic TUBGCP6 chr22 50676839 50676839 T C het . 2 +intronic TUBGCP6 chr22 50678571 50678571 T C het . 5 +intronic TUBGCP6 chr22 50678620 50678620 G C het . 18 +exonic TUBGCP6 chr22 50682580 50682580 C T het . 21 +UTR3 HDAC10(NM_032019:c.*144T>C,NM_001159286:c.*144T>C) chr22 50683792 50683792 A G het . 6 +intronic HDAC10 chr22 50684296 50684296 T C het . 5 +exonic HDAC10 chr22 50684415 50684415 T C het . 7 +exonic HDAC10 chr22 50684747 50684747 C T het . 8 +intronic HDAC10 chr22 50684852 50684852 G C het . 5 +exonic HDAC10 chr22 50686830 50686830 G A het . 6 +exonic HDAC10 chr22 50687178 50687178 C T het . 7 +intronic HDAC10 chr22 50687190 50687190 G C het . 8 +intronic HDAC10 chr22 50687328 50687328 C A het . 16 +exonic HDAC10 chr22 50687595 50687595 A G het . 19 +intronic HDAC10 chr22 50687750 50687750 T G het . 4 +intronic HDAC10 chr22 50687971 50687972 AT - het . 4 +intronic HDAC10 chr22 50688235 50688235 T C het . 2 +exonic HDAC10 chr22 50688348 50688348 A G het . 9 +intronic HDAC10 chr22 50689030 50689030 A G het . 3 +UTR3 MAPK12(NM_001303252:c.*121G>A,NM_002969:c.*121G>A) chr22 50691709 50691709 C T het . 6 +exonic MAPK12 chr22 50691870 50691870 C T het . 18 +exonic MAPK12 chr22 50693889 50693889 G A het . 12 +exonic MAPK12 chr22 50694297 50694297 A G het . 4 +exonic MAPK12 chr22 50695370 50695370 G A het . 2 +intronic MAPK12 chr22 50696662 50696662 C T het . 14 +exonic MAPK12 chr22 50699668 50699668 A G het . 13 +exonic MAPK11 chr22 50704661 50704661 T C het . 11 +exonic MAPK11 chr22 50705466 50705466 A G het . 6 +intronic MAPK11 chr22 50708594 50708594 C T het . 3 +UTR3 PLXNB2(NM_012401:c.*267C>G) chr22 50713866 50713866 G C het . 16 +intronic PLXNB2 chr22 50714289 50714289 T C het . 9 +intronic PLXNB2 chr22 50715029 50715029 T C het . 7 +intronic PLXNB2 chr22 50717129 50717129 T G het . 9 +intronic PLXNB2 chr22 50719165 50719165 T C het . 4 +exonic PLXNB2 chr22 50719251 50719251 A G het . 20 +intronic PLXNB2 chr22 50721756 50721756 G A het . 18 +exonic PLXNB2 chr22 50722167 50722167 T C het . 9 +exonic PLXNB2 chr22 50722408 50722408 T C het . 2 +intronic PLXNB2 chr22 50724593 50724593 G A het . 8 +intronic PLXNB2 chr22 50727921 50727921 T C het . 4 +exonic PLXNB2 chr22 50728062 50728062 T C het . 27 +intronic PLXNB2 chr22 50730458 50730458 G T het . 3 +upstream PLXNB2(dist=954) chr22 50746955 50746955 T C het . 2 +intergenic PLXNB2(dist=2324),DENND6B(dist=2067) chr22 50748325 50748325 C T het . 1 +intergenic PLXNB2(dist=3196),DENND6B(dist=1195) chr22 50749197 50749197 C T het . 2 +intergenic PLXNB2(dist=3240),DENND6B(dist=1151) chr22 50749241 50749241 T C het . 2 +exonic DENND6B chr22 50751529 50751529 G C het . 7 +exonic DENND6B chr22 50752150 50752150 C T het . 12 +intronic DENND6B chr22 50752169 50752169 G A het . 8 +exonic DENND6B chr22 50753334 50753334 G A het . 6 +intronic DENND6B chr22 50754363 50754363 A G het . 4 +exonic DENND6B chr22 50754466 50754466 C T het . 11 +exonic DENND6B chr22 50754648 50754648 T C het . 14 +exonic DENND6B chr22 50755782 50755782 G A het . 30 +intronic DENND6B chr22 50757470 50757470 T C het . 20 +intronic DENND6B chr22 50757541 50757541 T C het . 9 +intronic DENND6B chr22 50757579 50757579 C A het . 6 +intronic DENND6B chr22 50762876 50762876 A G het . 3 +intergenic DENND6B(dist=6425),PPP6R2(dist=9832) chr22 50771914 50771914 T C het . 2 +intronic PPP6R2 chr22 50805339 50805339 - C het . 2 +intronic PPP6R2 chr22 50833259 50833259 T C het . 2 +intronic PPP6R2 chr22 50876077 50876077 T C het . 13 +intronic PPP6R2 chr22 50876235 50876235 T C het . 12 +intronic PPP6R2 chr22 50876755 50876755 C T het . 2 +exonic PPP6R2 chr22 50877166 50877166 G C het . 2 +intronic PPP6R2 chr22 50880781 50880781 C T het . 2 +UTR3 SBF1(NM_002972:c.*237G>T) chr22 50885334 50885334 C A het . 6 +exonic SBF1 chr22 50885775 50885775 A G het . 5 +intronic SBF1 chr22 50885894 50885895 CA - het . 5 +intronic SBF1 chr22 50913206 50913206 G A het . 15 +intronic MIOX chr22 50925771 50925771 G A het . 2 +exonic LMF2 chr22 50944128 50944128 G A het . 5 +intronic NCAPH2 chr22 50957462 50957462 C T het . 2 +intronic NCAPH2 chr22 50960101 50960101 G A het . 5 +intronic NCAPH2 chr22 50961169 50961169 A G het . 4 +exonic SCO2 chr22 50962078 50962078 G T het . 15 +exonic SCO2 chr22 50962208 50962208 T G het . 17 +exonic SCO2 chr22 50962782 50962782 C G het . 23 +UTR5 SCO2(NM_001169111:c.-1125G>C,NM_005138:c.-1125G>C) chr22 50963965 50963965 C G het . 2 +intronic SCO2 chr22 50964153 50964153 T C het . 32 +exonic TYMP chr22 50964236 50964236 G A het . 30 +exonic TYMP chr22 50964255 50964255 C T het . 22 +exonic TYMP chr22 50964862 50964862 G A het . 5 +intronic TYMP chr22 50966914 50966914 T C het . 21 +splicing ODF3B(NM_001014440:exon5:c.540+2T>G) chr22 50969364 50969364 A C het . 14 +intergenic ODF3B(dist=3092),KLHDC7B(dist=10532) chr22 50974100 50974100 A G het . 2 +exonic KLHDC7B chr22 50985875 50985875 T C het . 2 +exonic KLHDC7B chr22 50987287 50987287 A G het . 4 +exonic KLHDC7B chr22 50988193 50988193 A G het . 5 +ncRNA_intronic CHKB-CPT1B chr22 51010788 51010788 T A het . 4 +ncRNA_intronic CHKB-CPT1B chr22 51010838 51010838 T A het . 3 +exonic CPT1B chr22 51011348 51011348 G A het . 19 +exonic CPT1B chr22 51011376 51011376 G C het . 27 +ncRNA_intronic CHKB-CPT1B chr22 51011936 51011936 T C het . 7 +ncRNA_intronic CHKB-CPT1B chr22 51012854 51012854 G A het . 12 +ncRNA_intronic CHKB-CPT1B chr22 51015210 51015210 G C het . 8 +ncRNA_exonic CHKB-CPT1B chr22 51016360 51016360 G A het . 13 +ncRNA_intronic CHKB-CPT1B chr22 51020668 51020668 C A het . 17 +ncRNA_intronic CHKB-DT chr22 51031835 51031835 C A het . 3 +downstream CHKB-DT(dist=467) chr22 51034177 51034177 G A het . 2 +UTR5 MAPK8IP2(NM_012324:c.-36A>C) chr22 51039212 51039212 A C het . 4 +exonic MAPK8IP2 chr22 51041663 51041663 C A het . 17 +exonic MAPK8IP2 chr22 51042484 51042484 C T het . 5 +exonic MAPK8IP2 chr22 51042513 51042513 - G het . 11 +intronic MAPK8IP2 chr22 51048400 51048400 A G het . 9 +downstream ARSA(dist=514) chr22 51060668 51060668 G A het . 3 +intronic ARSA chr22 51063987 51063987 G C het . 11 +exonic ARSA chr22 51064039 51064039 G C het . 18 +intronic ARSA chr22 51064141 51064141 G A het . 4 +intronic ARSA chr22 51064818 51064818 T C het . 5 +intergenic ARSA(dist=3556),SHANK3(dist=42913) chr22 51070157 51070157 C G het . 2 +intergenic ARSA(dist=31165),SHANK3(dist=15304) chr22 51097766 51097766 T - het . 2 +intergenic ARSA(dist=41908),SHANK3(dist=4561) chr22 51108509 51108509 G A het . 2 +exonic SHANK3 chr22 51113652 51113652 C A het . 16 +intronic SHANK3 chr22 51117137 51117137 G A het . 6 +intronic SHANK3 chr22 51131665 51131665 A T het . 2 +intronic SHANK3 chr22 51133518 51133518 G A het . 5 +intronic SHANK3 chr22 51133580 51133580 C A het . 2 +intronic SHANK3 chr22 51137249 51137249 T C het . 19 +intronic SHANK3 chr22 51150110 51150110 C A het . 8 +ncRNA_exonic LOC105373100 chr22 51174545 51174545 T - het . 3 +exonic ACR chr22 51183089 51183089 C T het . 3 +intronic XG chrX 2700027 2700027 T C het . 10 +intronic XG chrX 2700202 2700202 A G het . 18 +intronic XG chrX 2700302 2700302 T A het . 5 +intronic XG chrX 2715425 2715425 A G het . 3 +exonic XG chrX 2724760 2724760 T C het . 11 +intronic XG chrX 2729281 2729281 A G het . 6 +intronic XG chrX 2729541 2729541 A - het . 14 +intronic XG chrX 2732166 2732166 A T het . 5 +intronic XG chrX 2732356 2732356 - T het . 21 +UTR5 GYG2(NM_001184702:c.-1310_-1309insG,NM_001184704:c.-26255_-26254insG,NM_001184703:c.-1310_-1309insG,NM_003918:c.-1310_-1309insG,NM_001079855:c.-1310_-1309insG) chrX 2746920 2746920 - G het . 2 +intronic GYG2 chrX 2748051 2748051 T C het . 3 +intronic GYG2 chrX 2748253 2748253 G C het . 10 +intronic GYG2 chrX 2760785 2760789 TGTTT - het . 2 +intronic GYG2 chrX 2774478 2774478 A G het . 7 +intronic GYG2 chrX 2774793 2774793 G C het . 3 +exonic GYG2 chrX 2777985 2777985 C T het . 16 +intronic GYG2 chrX 2778587 2778587 A G het . 2 +exonic GYG2 chrX 2779570 2779570 A G het . 9 +exonic GYG2 chrX 2779749 2779749 C T het . 14 +intronic ARSD chrX 2828122 2828122 C T het . 4 +exonic ARSD chrX 2832742 2832742 G C het . 21 +exonic ARSD chrX 2836037 2836037 G C het . 31 +intronic ARSE chrX 2854997 2854997 C A het . 7 +exonic ARSE chrX 2856155 2856155 C T het . 21 +intronic ARSE chrX 2856421 2856421 - TC het . 15 +intronic ARSE chrX 2861459 2861459 G C het . 2 +intronic ARSE chrX 2862515 2862516 AA - het . 4 +intronic ARSE chrX 2864364 2864372 TTTTTTTTT - het . 7 +exonic ARSE chrX 2867413 2867413 C T het . 23 +exonic ARSH chrX 2928125 2928125 C T het . 28 +exonic ARSH chrX 2928170 2928170 C T het . 20 +exonic ARSH chrX 2942109 2942109 T C het . 18 +downstream ARSH(dist=8) chrX 2951434 2951434 C G het . 8 +intronic ARSF chrX 2963985 2963985 G A het . 3 +intronic ARSF chrX 2971451 2971451 A C het . 2 +intronic ARSF chrX 2976686 2976686 G A het . 12 +intronic ARSF chrX 2976715 2976715 G A het . 9 +intronic ARSF chrX 2999141 2999141 G A het . 2 +intronic ARSF chrX 3007480 3007480 G T het . 9 +intronic ARSF chrX 3019114 3019114 G A het . 10 +intronic ARSF chrX 3021798 3021798 T C het . 11 +exonic ARSF chrX 3030403 3030403 C T het . 18 +intergenic ARSF(dist=82167),LINC01546(dist=76924) chrX 3112937 3112937 T C het . 2 +intergenic ARSF(dist=149175),LINC01546(dist=9916) chrX 3179945 3179945 G T het . 3 +intergenic MXRA5(dist=68276),SNORA48B(dist=117198) chrX 3332960 3332960 A T het . 2 +intergenic MXRA5(dist=137847),SNORA48B(dist=47627) chrX 3402531 3402531 A T het . 2 +downstream SNORA48B(dist=8) chrX 3450150 3450150 - A het . 6 +upstream SNORA48B(dist=275) chrX 3450567 3450567 T C het . 2 +intergenic SNORA48B(dist=47500),PRKX(dist=24589) chrX 3497792 3497795 AAAG - het . 2 +intronic PRKX chrX 3533962 3533962 T C het . 9 +intronic PRKX chrX 3539376 3539376 C A het . 8 +intronic PRKX chrX 3592847 3592847 C T het . 9 +intronic PRKX chrX 3613573 3613573 C A het . 2 +intronic PRKX chrX 3615048 3615048 A G het . 2 +exonic PRKX chrX 3631167 3631167 A G het . 11 +intergenic PRKX(dist=3417),LOC389906(dist=100483) chrX 3635092 3635093 TG - het . 7 +intergenic PRKX(dist=3864),LOC389906(dist=100037) chrX 3635539 3635539 T C het . 16 +intergenic PRKX(dist=3880),LOC389906(dist=100021) chrX 3635555 3635555 G A het . 17 +intergenic PRKX(dist=37981),LOC389906(dist=65920) chrX 3669656 3669656 G A het . 2 +intergenic PRKX(dist=56747),LOC389906(dist=47154) chrX 3688422 3688422 T C het . 2 +intergenic PRKX(dist=56750),LOC389906(dist=47151) chrX 3688425 3688425 C T het . 2 +intergenic PRKX(dist=86873),LOC389906(dist=17028) chrX 3718548 3718548 T C het . 2 +intergenic PRKX(dist=88925),LOC389906(dist=14976) chrX 3720600 3720600 A T het . 2 +intergenic PRKX(dist=92122),LOC389906(dist=11779) chrX 3723797 3723797 A G het . 2 +intergenic PRKX(dist=99534),LOC389906(dist=4367) chrX 3731209 3731209 A G het . 1 +ncRNA_exonic LOC389906 chrX 3735732 3735732 G A het . 6 +ncRNA_exonic LOC389906 chrX 3736489 3736489 C T het . 10 +ncRNA_intronic LOC389906 chrX 3747555 3747555 G T het . 3 +intergenic FAM239B(dist=16996),LOC101928201(dist=689462) chrX 3855779 3855779 T C het . 19 +intergenic FAM239B(dist=97921),LOC101928201(dist=608537) chrX 3936704 3936704 C G het . 2 +intergenic FAM239B(dist=108926),LOC101928201(dist=597532) chrX 3947709 3947709 C G het . 2 +intergenic FAM239B(dist=115356),LOC101928201(dist=591102) chrX 3954139 3954139 G T het . 2 +intergenic FAM239B(dist=120448),LOC101928201(dist=586010) chrX 3959231 3959231 G C het . 2 +intergenic FAM239B(dist=214429),LOC101928201(dist=492029) chrX 4053212 4053212 - TTTTG het . 4 +intergenic FAM239B(dist=297510),LOC101928201(dist=408948) chrX 4136293 4136293 C T het . 2 +intergenic FAM239B(dist=328502),LOC101928201(dist=377956) chrX 4167285 4167285 A G het . 2 +intergenic FAM239B(dist=337628),LOC101928201(dist=368830) chrX 4176411 4176411 G A het . 6 +intergenic FAM239B(dist=369596),LOC101928201(dist=336862) chrX 4208379 4208379 G A het . 2 +intergenic FAM239B(dist=455617),LOC101928201(dist=250841) chrX 4294400 4294400 A G het . 2 +intergenic FAM239B(dist=544111),LOC101928201(dist=162347) chrX 4382894 4382894 A C het . 2 +intergenic FAM239B(dist=635426),LOC101928201(dist=71027) chrX 4474209 4474214 TTTGTT - het . 2 +intergenic FAM239B(dist=649001),LOC101928201(dist=57457) chrX 4487784 4487784 C A het . 2 +intergenic FAM239B(dist=660348),LOC101928201(dist=46110) chrX 4499131 4499131 G T het . 2 +intergenic FAM239B(dist=664114),LOC101928201(dist=42344) chrX 4502897 4502897 A G het . 2 +intergenic FAM239B(dist=665325),LOC101928201(dist=41133) chrX 4504108 4504108 G A het . 2 +intergenic FAM239B(dist=665487),LOC101928201(dist=40971) chrX 4504270 4504270 G C het . 4 +intergenic LOC101928201(dist=44525),NLGN4X(dist=1211929) chrX 4596138 4596138 G A het . 2 +intergenic LOC101928201(dist=76118),NLGN4X(dist=1180336) chrX 4627731 4627731 T A het . 1 +intergenic LOC101928201(dist=79927),NLGN4X(dist=1176526) chrX 4631540 4631541 TT - het . 2 +intergenic LOC101928201(dist=91405),NLGN4X(dist=1165049) chrX 4643018 4643018 T C het . 2 +intergenic LOC101928201(dist=91488),NLGN4X(dist=1164966) chrX 4643101 4643101 A G het . 2 +intergenic LOC101928201(dist=91531),NLGN4X(dist=1164923) chrX 4643144 4643144 A G het . 3 +intergenic LOC101928201(dist=101263),NLGN4X(dist=1155191) chrX 4652876 4652876 G A het . 2 +intergenic LOC101928201(dist=104115),NLGN4X(dist=1152339) chrX 4655728 4655728 G A het . 2 +intergenic LOC101928201(dist=154429),NLGN4X(dist=1102025) chrX 4706042 4706042 T C het . 2 +intergenic LOC101928201(dist=340556),NLGN4X(dist=915898) chrX 4892169 4892169 C G het . 2 +intergenic LOC101928201(dist=340598),NLGN4X(dist=915856) chrX 4892211 4892211 C G het . 3 +intergenic LOC101928201(dist=358792),NLGN4X(dist=897662) chrX 4910405 4910405 G T het . 2 +intergenic LOC101928201(dist=425159),NLGN4X(dist=831295) chrX 4976772 4976772 G A het . 2 +intergenic LOC101928201(dist=440020),NLGN4X(dist=816434) chrX 4991633 4991633 C T het . 2 +intergenic LOC101928201(dist=457460),NLGN4X(dist=798994) chrX 5009073 5009073 G C het . 2 +intergenic LOC101928201(dist=469200),NLGN4X(dist=787254) chrX 5020813 5020813 C T het . 2 +intergenic LOC101928201(dist=484422),NLGN4X(dist=772032) chrX 5036035 5036035 T - het . 3 +intergenic LOC101928201(dist=501616),NLGN4X(dist=754838) chrX 5053229 5053229 A T het . 2 +intergenic LOC101928201(dist=529855),NLGN4X(dist=726599) chrX 5081468 5081468 G A het . 2 +intergenic LOC101928201(dist=534589),NLGN4X(dist=721865) chrX 5086202 5086202 - GTTT het . 11 +intergenic LOC101928201(dist=706245),NLGN4X(dist=550209) chrX 5257858 5257858 T A het . 10 +intergenic LOC101928201(dist=762907),NLGN4X(dist=493547) chrX 5314520 5314520 A - het . 2 +intergenic LOC101928201(dist=811533),NLGN4X(dist=444921) chrX 5363146 5363146 A T het . 2 +intergenic LOC101928201(dist=877569),NLGN4X(dist=378885) chrX 5429182 5429182 G A het . 2 +intergenic LOC101928201(dist=892970),NLGN4X(dist=363484) chrX 5444583 5444583 T C het . 2 +intergenic LOC101928201(dist=904075),NLGN4X(dist=352379) chrX 5455688 5455688 G A het . 2 +intergenic LOC101928201(dist=910340),NLGN4X(dist=346114) chrX 5461953 5461953 C T het . 4 +intergenic LOC101928201(dist=974139),NLGN4X(dist=282315) chrX 5525752 5525752 C T het . 2 +intergenic LOC101928201(dist=1014396),NLGN4X(dist=242058) chrX 5566009 5566009 T G het . 2 +intergenic LOC101928201(dist=1048338),NLGN4X(dist=208116) chrX 5599951 5599951 A C het . 4 +intergenic LOC101928201(dist=1051590),NLGN4X(dist=204864) chrX 5603203 5603203 G A het . 2 +intergenic LOC101928201(dist=1054303),NLGN4X(dist=202149) chrX 5605916 5605918 AGT - het . 2 +intergenic LOC101928201(dist=1097256),NLGN4X(dist=159198) chrX 5648869 5648869 A G het . 2 +intergenic LOC101928201(dist=1097261),NLGN4X(dist=159193) chrX 5648874 5648874 T G het . 2 +intergenic LOC101928201(dist=1099158),NLGN4X(dist=157296) chrX 5650771 5650771 C A het . 3 +intergenic LOC101928201(dist=1233825),NLGN4X(dist=22629) chrX 5785438 5785438 T - het . 3 +UTR3 NLGN4X(NM_001282145:c.*1997C>T,NM_181332:c.*1997C>T,NM_020742:c.*1997C>T,NM_001282146:c.*1997C>T) chrX 5808861 5808861 G A het . 13 +UTR3 NLGN4X(NM_001282145:c.*1987T>G,NM_181332:c.*1987T>G,NM_020742:c.*1987T>G,NM_001282146:c.*1987T>G) chrX 5808871 5808871 A C het . 13 +UTR3 NLGN4X(NM_001282145:c.*102G>A,NM_181332:c.*102G>A,NM_020742:c.*102G>A,NM_001282146:c.*102G>A) chrX 5810756 5810756 C T het . 5 +exonic NLGN4X chrX 5810949 5810949 G A het . 24 +intronic NLGN4X chrX 5811807 5811807 A G het . 10 +intronic NLGN4X chrX 5816140 5816140 T C het . 2 +intronic NLGN4X chrX 5833872 5833872 A G het . 3 +intronic NLGN4X chrX 5888638 5888638 C T het . 2 +intronic NLGN4X chrX 5905273 5905273 G T het . 2 +intronic NLGN4X chrX 5951081 5951081 A - het . 5 +intronic NLGN4X chrX 5959609 5959609 G A het . 2 +intronic NLGN4X chrX 5972382 5972382 C T het . 2 +intronic NLGN4X chrX 6053473 6053473 T A het . 1 +intronic NLGN4X chrX 6143682 6143682 C A het . 3 +intergenic LOC105373156(dist=117983),MIR4770(dist=35632) chrX 6266315 6266315 C G het . 2 +intergenic MIR4770(dist=38805),VCX3A(dist=110850) chrX 6340809 6340809 A G het . 2 +intergenic MIR4770(dist=43447),VCX3A(dist=106208) chrX 6345451 6345451 A - het . 2 +intergenic MIR4770(dist=107356),VCX3A(dist=42299) chrX 6409360 6409360 C A het . 2 +intergenic VCX3A(dist=198531),PUDP(dist=315271) chrX 6651690 6651690 A G het . 2 +intergenic VCX3A(dist=241257),PUDP(dist=272545) chrX 6694416 6694416 T A het . 2 +intergenic VCX3A(dist=241259),PUDP(dist=272543) chrX 6694418 6694418 C A het . 2 +intergenic VCX3A(dist=243009),PUDP(dist=270793) chrX 6696168 6696168 G A het . 2 +intergenic VCX3A(dist=253511),PUDP(dist=260291) chrX 6706670 6706670 C T het . 3 +intergenic VCX3A(dist=254172),PUDP(dist=259627) chrX 6707331 6707334 TAAA - het . 2 +intergenic VCX3A(dist=270408),PUDP(dist=243394) chrX 6723567 6723567 A G het . 2 +intergenic VCX3A(dist=429381),PUDP(dist=84421) chrX 6882540 6882540 T C het . 2 +intergenic VCX3A(dist=448250),PUDP(dist=65552) chrX 6901409 6901409 C T het . 3 +exonic PUDP chrX 6975752 6975752 G T het . 9 +exonic PUDP chrX 6975782 6975782 C G het . 15 +exonic PUDP chrX 6995315 6995315 C T het . 19 +intronic PUDP chrX 7021602 7021602 C T het . 2 +intronic PUDP chrX 7041556 7041556 C T het . 2 +intronic PUDP chrX 7058842 7058842 G A het . 3 +UTR5 STS(NM_001320752:c.-42967A>C,NM_001320751:c.-42967A>C) chrX 7066051 7066051 A C het . 13 +intronic STS chrX 7094684 7094684 - A het . 3 +intronic STS chrX 7108047 7108047 T C het . 2 +intronic STS chrX 7193971 7193972 TT - het . 17 +intergenic STS(dist=60519),VCX(dist=477100) chrX 7333203 7333203 G C het . 2 +intergenic STS(dist=71887),VCX(dist=465732) chrX 7344571 7344571 C T het . 2 +intergenic STS(dist=72865),VCX(dist=464754) chrX 7345549 7345549 A G het . 2 +intergenic STS(dist=73928),VCX(dist=463688) chrX 7346612 7346615 AAAC - het . 3 +intergenic STS(dist=108624),VCX(dist=428995) chrX 7381308 7381308 G A het . 2 +intergenic STS(dist=146122),VCX(dist=391497) chrX 7418806 7418806 G T het . 1 +intergenic STS(dist=146126),VCX(dist=391493) chrX 7418810 7418810 T G het . 1 +intergenic STS(dist=268346),VCX(dist=269273) chrX 7541030 7541030 G T het . 2 +intergenic STS(dist=268370),VCX(dist=269249) chrX 7541054 7541054 G A het . 2 +intergenic STS(dist=268376),VCX(dist=269243) chrX 7541060 7541060 G T het . 2 +intergenic STS(dist=317174),VCX(dist=220445) chrX 7589858 7589858 G C het . 3 +intergenic VCX(dist=23913),PNPLA4(dist=30707) chrX 7836097 7836097 G A het . 2 +intergenic VCX(dist=23929),PNPLA4(dist=30691) chrX 7836113 7836113 G T het . 2 +intronic PNPLA4 chrX 7883301 7883301 C T het . 2 +intronic PNPLA4 chrX 7890215 7890215 C T het . 14 +intergenic PNPLA4(dist=171156),MIR651(dist=28070) chrX 8066936 8066936 A T het . 2 +exonic VCX2 chrX 8138080 8138080 G C het . 16 +intergenic VCX2(dist=21807),VCX3B(dist=271756) chrX 8161115 8161115 A G het . 2 +intergenic VCX2(dist=139881),VCX3B(dist=153682) chrX 8279189 8279189 A G het . 3 +intergenic VCX2(dist=218564),VCX3B(dist=74999) chrX 8357872 8357872 - AAA het . 2 +intergenic VCX2(dist=246543),VCX3B(dist=47020) chrX 8385851 8385851 T A het . 2 +intergenic VCX2(dist=251075),VCX3B(dist=42488) chrX 8390383 8390383 A G het . 2 +intergenic VCX2(dist=274063),VCX3B(dist=19500) chrX 8413371 8413371 A G het . 3 +intergenic VCX2(dist=282367),VCX3B(dist=11196) chrX 8421675 8421675 A G het . 2 +intronic ANOS1 chrX 8501120 8501120 C A het . 32 +exonic ANOS1 chrX 8503641 8503641 G A het . 10 +intronic ANOS1 chrX 8504652 8504652 T C het . 4 +intronic ANOS1 chrX 8504773 8504773 G T het . 11 +exonic ANOS1 chrX 8504833 8504833 C T het . 22 +intronic ANOS1 chrX 8579359 8579359 - A het . 2 +intronic ANOS1 chrX 8592053 8592056 TTTT - het . 5 +intergenic ANOS1(dist=7663),FAM9A(dist=50946) chrX 8707891 8707891 T A het . 2 +intergenic ANOS1(dist=7667),FAM9A(dist=50942) chrX 8707895 8707895 T A het . 2 +intronic FAM9A chrX 8761553 8761553 T G het . 2 +intronic FAM9A chrX 8761625 8761625 G A het . 3 +intronic FAM9A chrX 8766291 8766291 T C het . 12 +intergenic FAM9A(dist=144568),FAM9B(dist=78281) chrX 8913992 8913992 T C het . 2 +intergenic FAM9A(dist=147222),FAM9B(dist=75627) chrX 8916646 8916646 A C het . 2 +intergenic FAM9A(dist=179893),FAM9B(dist=42956) chrX 8949317 8949317 C T het . 4 +intergenic FAM9A(dist=185764),FAM9B(dist=37085) chrX 8955188 8955188 A C het . 2 +intergenic FAM9B(dist=108108),TBL1X(dist=321059) chrX 9110276 9110276 - A het . 3 +intergenic FAM9B(dist=170338),TBL1X(dist=258829) chrX 9172506 9172506 T C het . 3 +intergenic FAM9B(dist=180922),TBL1X(dist=248245) chrX 9183090 9183090 A G het . 2 +intergenic FAM9B(dist=223814),TBL1X(dist=205353) chrX 9225982 9225982 G C het . 3 +intergenic FAM9B(dist=263652),TBL1X(dist=165515) chrX 9265820 9265820 G A het . 2 +intergenic FAM9B(dist=275282),TBL1X(dist=153885) chrX 9277450 9277450 C T het . 2 +intergenic FAM9B(dist=296716),TBL1X(dist=132451) chrX 9298884 9298884 G A het . 2 +intergenic FAM9B(dist=347293),TBL1X(dist=81874) chrX 9349461 9349461 A T het . 2 +intergenic FAM9B(dist=350787),TBL1X(dist=78380) chrX 9352955 9352955 C A het . 1 +intergenic FAM9B(dist=350792),TBL1X(dist=78375) chrX 9352960 9352960 C A het . 1 +intergenic FAM9B(dist=350802),TBL1X(dist=78365) chrX 9352970 9352970 G C het . 1 +intergenic FAM9B(dist=360218),TBL1X(dist=68949) chrX 9362386 9362386 C T het . 2 +intergenic FAM9B(dist=423485),TBL1X(dist=5682) chrX 9425653 9425653 C T het . 2 +intronic TBL1X chrX 9561446 9561448 AAT - het . 2 +intronic TBL1X chrX 9618771 9618771 A C het . 1 +intronic TBL1X chrX 9622195 9622195 A - het . 9 +intronic TBL1X chrX 9659766 9659766 G A het . 4 +intronic TBL1X chrX 9659767 9659767 - G het . 4 +intronic TBL1X chrX 9659863 9659863 G A het . 3 +intronic TBL1X chrX 9661110 9661110 C G het . 15 +intronic TBL1X chrX 9661165 9661165 G T het . 20 +intronic TBL1X chrX 9661546 9661546 T C het . 7 +intronic TBL1X chrX 9665368 9665368 C A het . 17 +intronic TBL1X chrX 9676764 9676764 A G het . 2 +intronic GPR143 chrX 9729001 9729001 G A het . 4 +intronic GPR143 chrX 9729019 9729019 G T het . 2 +intronic SHROOM2 chrX 9757298 9757298 G A het . 2 +intronic SHROOM2 chrX 9776909 9776909 A T het . 2 +intronic SHROOM2 chrX 9784377 9784377 C A het . 3 +intronic SHROOM2 chrX 9784620 9784620 - CTGCTG het . 9 +intronic SHROOM2 chrX 9787331 9787331 T C het . 3 +intronic SHROOM2 chrX 9788157 9788157 T - het . 2 +intronic SHROOM2 chrX 9790311 9790311 A G het . 1 +intronic SHROOM2 chrX 9799721 9799721 G A het . 6 +intronic SHROOM2 chrX 9837585 9837585 G C het . 4 +exonic SHROOM2 chrX 9859098 9859098 A G het . 12 +intronic SHROOM2 chrX 9859197 9859197 A G het . 3 +intronic SHROOM2 chrX 9866085 9866085 T C het . 6 +intronic SHROOM2 chrX 9866420 9866420 T C het . 2 +intronic SHROOM2 chrX 9867237 9867237 T C het . 2 +intergenic CLDN34(dist=9431),WWC3(dist=38322) chrX 9945473 9945473 T C het . 2 +intronic WWC3 chrX 10053299 10053299 A G het . 3 +intronic WWC3 chrX 10066360 10066360 C G het . 3 +intronic WWC3 chrX 10066387 10066387 G C het . 8 +exonic WWC3 chrX 10085674 10085674 T C het . 7 +intronic WWC3 chrX 10098377 10098377 C T het . 3 +intronic CLCN4 chrX 10162224 10162224 G A het . 2 +intronic CLCN4 chrX 10166198 10166198 A C het . 2 +intronic MID1 chrX 10450799 10450799 A G het . 10 +intronic MID1 chrX 10490929 10490929 G A het . 6 +intergenic MID1(dist=128309),HCCS(dist=149288) chrX 10980118 10980118 C T het . 2 +intronic ARHGAP6 chrX 11200071 11200074 AAAA - het . 13 +UTR5 ARHGAP6(NM_013423:c.-11019C>T) chrX 11283825 11283825 G A het . 5 +exonic AMELX chrX 11316749 11316749 A C het . 9 +intronic ARHGAP6 chrX 11365042 11365042 - AAAC het . 4 +intronic ARHGAP6 chrX 11376021 11376021 A G het . 2 +intronic ARHGAP6 chrX 11571772 11571772 T C het . 2 +intergenic MSL3(dist=42452),FRMPD4(dist=320261) chrX 11836324 11836324 A T het . 2 +intergenic MSL3(dist=144986),FRMPD4(dist=217727) chrX 11938858 11938858 A G het . 2 +intergenic MSL3(dist=150002),FRMPD4(dist=212711) chrX 11943874 11943874 A C het . 2 +intergenic MSL3(dist=157952),FRMPD4(dist=204761) chrX 11951824 11951824 C A het . 2 +intergenic MSL3(dist=249296),FRMPD4(dist=113417) chrX 12043168 12043168 - T het . 2 +intergenic MSL3(dist=337453),FRMPD4(dist=25260) chrX 12131325 12131325 C T het . 1 +intergenic MSL3(dist=338641),FRMPD4(dist=24072) chrX 12132513 12132513 T C het . 2 +intergenic MSL3(dist=343290),FRMPD4(dist=19423) chrX 12137162 12137162 A G het . 2 +intronic FRMPD4 chrX 12188149 12188149 G A het . 2 +intronic FRMPD4 chrX 12200781 12200781 C T het . 3 +intronic FRMPD4 chrX 12209409 12209409 C T het . 2 +intronic FRMPD4 chrX 12223383 12223383 G A het . 2 +intronic FRMPD4 chrX 12238272 12238277 CAACAA - het . 2 +intronic FRMPD4 chrX 12277446 12277446 T G het . 1 +intronic FRMPD4 chrX 12416792 12416792 C A het . 2 +intronic FRMPD4 chrX 12457349 12457349 A G het . 2 +intronic FRMPD4 chrX 12463692 12463692 A C het . 2 +intronic FRMPD4 chrX 12468004 12468004 A G het . 2 +intronic FRMPD4 chrX 12510397 12510397 C T het . 2 +intronic FRMPD4 chrX 12516480 12516480 A G het . 1 +intronic FRMPD4 chrX 12516777 12516777 - T het . 13 +intronic FRMPD4 chrX 12564768 12564768 C T het . 2 +intronic FRMPD4 chrX 12568583 12568583 T C het . 3 +intronic FRMPD4 chrX 12571288 12571288 - AAGA het . 2 +intronic FRMPD4 chrX 12572988 12572988 T A het . 2 +intronic FRMPD4 chrX 12575648 12575648 G A het . 2 +intronic FRMPD4 chrX 12628036 12628036 A C het . 10 +intronic FRMPD4 chrX 12628049 12628049 T C het . 7 +intronic FRMPD4 chrX 12628866 12628866 - AAA het . 2 +intronic FRMPD4 chrX 12722616 12722616 C G het . 5 +exonic FRMPD4 chrX 12725701 12725701 C G het . 13 +intronic FRMPD4 chrX 12738587 12738587 T C het . 16 +intronic FRMPD4 chrX 12738627 12738627 C T het . 18 +intergenic FRMPD4(dist=13204),PRPS2(dist=53628) chrX 12755846 12755846 A G het . 2 +intergenic FRMPD4(dist=13212),PRPS2(dist=53620) chrX 12755854 12755854 T C het . 2 +intergenic FRMPD4(dist=43367),PRPS2(dist=23465) chrX 12786009 12786009 C T het . 2 +intergenic FRMPD4(dist=50292),PRPS2(dist=16540) chrX 12792934 12792934 T G het . 2 +intergenic FRMPD4(dist=62826),PRPS2(dist=4006) chrX 12805468 12805468 C T het . 2 +exonic PRPS2 chrX 12809661 12809661 G A het . 5 +intronic PRPS2 chrX 12820597 12820597 G A het . 4 +intronic PRPS2 chrX 12837558 12837558 C T het . 3 +intronic PRPS2 chrX 12838934 12838934 A G het . 8 +intergenic PRPS2(dist=12580),TLR7(dist=30276) chrX 12854926 12854926 C G het . 3 +intergenic PRPS2(dist=20809),TLR7(dist=22047) chrX 12863155 12863155 T - het . 10 +intergenic PRPS2(dist=21300),TLR7(dist=21556) chrX 12863646 12863646 T C het . 6 +exonic TLR7 chrX 12903659 12903659 A T het . 14 +exonic TLR8 chrX 12939928 12939928 T C het . 17 +intergenic TLR8-AS1(dist=23374),TMSB4X(dist=8433) chrX 12984793 12984793 C T het . 2 +intronic FAM9C chrX 13056654 13056654 T C het . 14 +intergenic FAM9C(dist=19283),LINC02154(dist=201967) chrX 13082200 13082200 T C het . 2 +intergenic FAM9C(dist=19328),LINC02154(dist=201922) chrX 13082245 13082245 T C het . 2 +intergenic FAM9C(dist=157205),LINC02154(dist=64045) chrX 13220122 13220122 A G het . 2 +ncRNA_intronic LINC02154 chrX 13307330 13307330 A G het . 3 +intergenic LINC01203(dist=34081),EGFL6(dist=193669) chrX 13394025 13394025 A G het . 2 +intergenic LINC01203(dist=36019),EGFL6(dist=191731) chrX 13395963 13395963 A G het . 2 +intergenic LINC01203(dist=37059),EGFL6(dist=190691) chrX 13397003 13397003 C T het . 4 +intergenic LINC01203(dist=37292),EGFL6(dist=190458) chrX 13397236 13397236 G C het . 10 +intergenic LINC01203(dist=37453),EGFL6(dist=190297) chrX 13397397 13397397 C T het . 4 +intergenic LINC01203(dist=48478),EGFL6(dist=179272) chrX 13408422 13408422 T C het . 5 +intergenic LINC01203(dist=51357),EGFL6(dist=176393) chrX 13411301 13411301 T G het . 2 +intergenic LINC01203(dist=61903),EGFL6(dist=165847) chrX 13421847 13421847 C T het . 2 +intergenic LINC01203(dist=67436),EGFL6(dist=160314) chrX 13427380 13427380 G C het . 3 +intergenic LINC01203(dist=69499),EGFL6(dist=158251) chrX 13429443 13429443 G T het . 2 +intergenic LINC01203(dist=73555),EGFL6(dist=154195) chrX 13433499 13433499 C T het . 2 +intergenic LINC01203(dist=145177),EGFL6(dist=82573) chrX 13505121 13505121 - T het . 3 +intergenic LINC01203(dist=162674),EGFL6(dist=65076) chrX 13522618 13522618 G A het . 2 +intergenic LINC01203(dist=211359),EGFL6(dist=16391) chrX 13571303 13571303 C G het . 2 +intronic EGFL6 chrX 13591864 13591864 G T het . 2 +intronic EGFL6 chrX 13641458 13641458 T A het . 3 +intergenic EGFL6(dist=12406),TCEANC(dist=7125) chrX 13664100 13664100 C T het . 2 +intronic TCEANC chrX 13672953 13672956 TTTG - het . 2 +exonic TCEANC chrX 13681115 13681115 C T het . 16 +exonic TCEANC chrX 13681638 13681638 C T het . 11 +exonic TCEANC chrX 13681679 13681679 G T het . 6 +UTR3 TCEANC(NM_001297564:c.*1032G>A,NM_001297563:c.*1032G>A,NM_152634:c.*1032G>A) chrX 13682715 13682715 G A het . 2 +intergenic TCEANC(dist=6624),RAB9A(dist=17089) chrX 13690151 13690151 T A het . 2 +intergenic TCEANC(dist=16854),RAB9A(dist=6859) chrX 13700381 13700381 G A het . 3 +intronic OFD1 chrX 13775753 13775753 T - het . 14 +intronic GPM6B chrX 13797117 13797117 T G het . 2 +intronic GPM6B chrX 13933218 13933218 C - het . 2 +intronic GPM6B chrX 13938405 13938408 AAAG - het . 2 +intronic GPM6B chrX 13938446 13938446 - T het . 6 +intronic GPM6B chrX 13938480 13938480 C T het . 5 +intronic GPM6B chrX 13939116 13939116 G A het . 2 +intronic GPM6B chrX 13944173 13944173 C A het . 2 +intergenic GPM6B(dist=40655),GEMIN8(dist=27247) chrX 13997598 13997598 C A het . 3 +intergenic GPM6B(dist=56837),GEMIN8(dist=11065) chrX 14013780 14013780 A G het . 2 +intergenic GEMIN8(dist=53611),UBE2E4P(dist=160741) chrX 14101646 14101646 G A het . 2 +intergenic GEMIN8(dist=98017),UBE2E4P(dist=116335) chrX 14146052 14146052 T G het . 2 +intergenic GEMIN8(dist=103818),UBE2E4P(dist=110534) chrX 14151853 14151853 A T het . 2 +upstream UBE2E4P(dist=37) chrX 14262350 14262350 G T het . 7 +intergenic UBE2E4P(dist=77777),GLRA2(dist=206098) chrX 14341322 14341322 G C het . 2 +intergenic UBE2E4P(dist=105145),GLRA2(dist=178730) chrX 14368690 14368690 T C het . 2 +intergenic UBE2E4P(dist=113894),GLRA2(dist=169981) chrX 14377439 14377439 T C het . 1 +intergenic UBE2E4P(dist=129193),GLRA2(dist=154682) chrX 14392738 14392738 T A het . 2 +intronic GLRA2 chrX 14577933 14577933 C T het . 3 +intronic GLRA2 chrX 14592377 14592377 C T het . 12 +intronic GLRA2 chrX 14597471 14597471 T A het . 2 +intronic GLRA2 chrX 14599230 14599230 A G het . 4 +intronic GLRA2 chrX 14599572 14599572 A G het . 8 +intronic GLRA2 chrX 14600788 14600788 G A het . 2 +intronic GLRA2 chrX 14601858 14601858 G C het . 4 +intronic GLRA2 chrX 14620475 14620478 TTGT - het . 2 +exonic GLRA2 chrX 14627144 14627144 T C het . 12 +intronic GLRA2 chrX 14650734 14650734 C T het . 2 +intronic GLRA2 chrX 14667696 14667696 T C het . 2 +intergenic GLRA2(dist=66415),FANCB(dist=45181) chrX 14816348 14816348 A G het . 2 +intergenic GLRA2(dist=102832),FANCB(dist=8764) chrX 14852765 14852765 G C het . 29 +intronic FANCB chrX 14862279 14862279 T C het . 3 +intronic FANCB chrX 14862289 14862289 A G het . 3 +intronic FANCB chrX 14868806 14868806 A G het . 26 +intronic FANCB chrX 14868854 14868854 A - het . 13 +intronic FANCB chrX 14882553 14882553 T G het . 7 +intronic FANCB chrX 14883948 14883948 G A het . 3 +intronic MOSPD2 chrX 14930353 14930353 - T het . 15 +intergenic MOSPD2(dist=29679),ASB9(dist=292142) chrX 14969967 14969967 G C het . 2 +intergenic MOSPD2(dist=87415),ASB9(dist=234406) chrX 15027703 15027703 - TTTG het . 2 +intergenic MOSPD2(dist=95051),ASB9(dist=226770) chrX 15035339 15035339 A G het . 2 +intergenic MOSPD2(dist=154643),ASB9(dist=167178) chrX 15094931 15094931 T C het . 2 +intergenic MOSPD2(dist=160213),ASB9(dist=161608) chrX 15100501 15100501 A C het . 2 +intergenic MOSPD2(dist=162049),ASB9(dist=159772) chrX 15102337 15102337 C T het . 2 +intergenic MOSPD2(dist=172492),ASB9(dist=149329) chrX 15112780 15112780 G A het . 2 +intergenic MOSPD2(dist=248347),ASB9(dist=73474) chrX 15188635 15188635 G A het . 2 +intergenic MOSPD2(dist=252002),ASB9(dist=69819) chrX 15192290 15192290 T C het . 2 +intergenic MOSPD2(dist=261915),ASB9(dist=59906) chrX 15202203 15202203 A C het . 2 +intergenic MOSPD2(dist=296855),ASB9(dist=24966) chrX 15237143 15237143 T G het . 2 +UTR3 ASB9(NM_001168530:c.*353T>G,NM_001031739:c.*196T>G,NM_001168531:c.*353T>G,NM_024087:c.*353T>G) chrX 15262432 15262432 A C het . 3 +exonic ASB9 chrX 15262728 15262728 C A het . 27 +intronic ASB9 chrX 15262813 15262813 - GG het . 7 +intronic ASB9 chrX 15262814 15262814 T A het . 7 +intronic ASB9 chrX 15266712 15266712 T A het . 4 +intronic ASB9 chrX 15267107 15267107 C G het . 2 +intronic ASB9 chrX 15268361 15268361 T C het . 2 +intronic ASB9 chrX 15277786 15277786 C T het . 2 +intronic ASB9 chrX 15281472 15281472 T G het . 2 +intronic ASB9 chrX 15283764 15283764 T - het . 3 +intronic ASB9 chrX 15283903 15283903 C A het . 2 +intronic ASB9 chrX 15286740 15286740 A G het . 2 +exonic ASB11 chrX 15306063 15306063 T C het . 7 +exonic ASB11 chrX 15332558 15332558 A G het . 22 +intronic PIGA chrX 15343041 15343041 G A het . 17 +intronic PIGA chrX 15343401 15343401 - AA het . 8 +ncRNA_intronic PIR-FIGF chrX 15368841 15368841 - TCTT het . 4 +ncRNA_intronic PIR-FIGF chrX 15408419 15408419 T C het . 11 +ncRNA_intronic PIR-FIGF chrX 15408516 15408516 - A het . 12 +exonic PIR chrX 15415583 15415583 C T het . 20 +ncRNA_intronic PIR-FIGF chrX 15423416 15423416 C T het . 2 +ncRNA_intronic PIR-FIGF chrX 15435225 15435225 A C het . 2 +ncRNA_intronic PIR-FIGF chrX 15438441 15438442 TC - het . 2 +ncRNA_intronic PIR-FIGF chrX 15480006 15480006 G T het . 3 +ncRNA_intronic PIR-FIGF chrX 15498238 15498238 C T het . 2 +ncRNA_intronic PIR-FIGF chrX 15502434 15502434 T C het . 2 +intronic BMX chrX 15554626 15554626 A - het . 5 +intronic BMX chrX 15555109 15555109 T - het . 5 +exonic ACE2 chrX 15582209 15582209 C T het . 12 +intronic ACE2 chrX 15596143 15596143 - ATAAG het . 11 +intronic ACE2 chrX 15607650 15607650 T C het . 7 +intronic ACE2 chrX 15610348 15610348 C T het . 17 +intronic CA5B chrX 15785591 15785591 T C het . 2 +intronic CA5B chrX 15794815 15794815 G A het . 6 +intronic ZRSR2 chrX 15817963 15817963 A G het . 10 +intronic ZRSR2 chrX 15818115 15818115 T - het . 13 +intronic ZRSR2 chrX 15822013 15822013 C T het . 15 +intronic ZRSR2 chrX 15822022 15822022 C T het . 12 +intronic ZRSR2 chrX 15822117 15822117 C A het . 2 +intronic ZRSR2 chrX 15826163 15826163 A - het . 5 +intronic ZRSR2 chrX 15826556 15826556 T C het . 4 +intronic ZRSR2 chrX 15827524 15827524 T G het . 9 +intronic ZRSR2 chrX 15827563 15827563 C T het . 7 +intronic ZRSR2 chrX 15834819 15834819 G C het . 2 +intronic ZRSR2 chrX 15836648 15836648 T G het . 4 +exonic ZRSR2 chrX 15838366 15838366 C T het . 14 +intronic AP1S2 chrX 15863953 15863953 A T het . 25 +intronic AP1S2 chrX 15870125 15870125 C A het . 1 +intergenic AP1S2(dist=38469),GRPR(dist=229818) chrX 15911606 15911606 C T het . 2 +intergenic AP1S2(dist=38713),GRPR(dist=229574) chrX 15911850 15911850 - AGAA het . 2 +intergenic AP1S2(dist=62618),GRPR(dist=205669) chrX 15935755 15935755 T C het . 11 +intergenic AP1S2(dist=175411),GRPR(dist=92876) chrX 16048548 16048548 A G het . 2 +intergenic AP1S2(dist=255566),GRPR(dist=12721) chrX 16128703 16128703 A G het . 2 +exonic GRPR chrX 16168467 16168467 T C het . 13 +exonic GRPR chrX 16168677 16168677 T C het . 23 +intergenic GRPR(dist=9150),MAGEB17(dist=4813) chrX 16180791 16180791 - TTTC het . 2 +intergenic MAGEB17(dist=27540),CTPS2(dist=389066) chrX 16217056 16217056 A G het . 6 +intergenic MAGEB17(dist=54877),CTPS2(dist=361729) chrX 16244393 16244393 C T het . 2 +intergenic MAGEB17(dist=66993),CTPS2(dist=349613) chrX 16256509 16256509 G T het . 3 +intergenic MAGEB17(dist=172457),CTPS2(dist=244149) chrX 16361973 16361973 T C het . 3 +intergenic MAGEB17(dist=204054),CTPS2(dist=212552) chrX 16393570 16393570 C G het . 2 +intronic CTPS2 chrX 16627937 16627937 C G het . 3 +intronic CTPS2 chrX 16632074 16632074 G A het . 3 +intronic CTPS2 chrX 16703719 16703719 T C het . 3 +intronic CTPS2 chrX 16709626 16709626 G A het . 10 +intronic CTPS2 chrX 16721129 16721129 T C het . 3 +intronic CTPS2 chrX 16724871 16724871 G C het . 2 +intronic SYAP1 chrX 16761749 16761749 A - het . 6 +intronic SYAP1 chrX 16762002 16762002 A G het . 13 +intergenic SYAP1(dist=5521),TXLNG(dist=18227) chrX 16786328 16786328 A - het . 2 +intronic TXLNG chrX 16850586 16850586 C A het . 2 +intronic TXLNG chrX 16852327 16852327 A C het . 13 +exonic TXLNG chrX 16859628 16859628 G A het . 14 +intronic RBBP7 chrX 16876980 16876980 G A het . 17 +intronic RBBP7 chrX 16878495 16878495 A C het . 2 +intronic RBBP7 chrX 16884694 16884694 C A het . 2 +intergenic RBBP7(dist=51360),REPS2(dist=24920) chrX 16939894 16939894 A G het . 3 +intronic REPS2 chrX 16978254 16978254 A G het . 2 +intronic REPS2 chrX 17070688 17070688 G A het . 2 +intronic REPS2 chrX 17073092 17073092 C T het . 7 +intronic REPS2 chrX 17092152 17092152 G T het . 3 +intronic REPS2 chrX 17157148 17157148 T A het . 11 +intergenic REPS2(dist=121424),NHS(dist=100716) chrX 17292827 17292827 C T het . 2 +intergenic REPS2(dist=136059),NHS(dist=86081) chrX 17307462 17307462 T A het . 2 +intronic NHS chrX 17545372 17545372 T C het . 2 +intronic NHS chrX 17705850 17705850 - T het . 27 +intronic NHS chrX 17727009 17727009 G T het . 2 +exonic NHS chrX 17744477 17744477 C A het . 18 +exonic RAI2 chrX 17819377 17819377 T C het . 5 +ncRNA_intronic LINC01456 chrX 18108075 18108075 A G het . 2 +intergenic LINC01456(dist=22077),BEND2(dist=36210) chrX 18144841 18144841 - A het . 4 +intergenic LINC01456(dist=22943),BEND2(dist=35344) chrX 18145707 18145707 T C het . 2 +intergenic LINC01456(dist=33061),BEND2(dist=25226) chrX 18155825 18155825 T C het . 2 +intergenic LINC01456(dist=35292),BEND2(dist=22995) chrX 18158056 18158056 G A het . 2 +intergenic LINC01456(dist=35637),BEND2(dist=22650) chrX 18158401 18158401 A G het . 2 +intergenic LINC01456(dist=35727),BEND2(dist=22560) chrX 18158491 18158491 A T het . 2 +UTR3 BEND2(NM_153346:c.*31delT) chrX 18183098 18183098 A - het . 3 +intronic BEND2 chrX 18198913 18198913 - T het . 5 +intronic BEND2 chrX 18215652 18215652 C T het . 2 +intronic BEND2 chrX 18220274 18220274 G A het . 4 +exonic BEND2 chrX 18230715 18230715 A C het . 17 +intronic BEND2 chrX 18231868 18231868 - TAAAAA het . 5 +exonic BEND2 chrX 18231907 18231907 C T het . 5 +intronic BEND2 chrX 18238025 18238025 - AAAAC het . 6 +intronic SCML2 chrX 18284005 18284005 C T het . 9 +intronic SCML2 chrX 18323349 18323349 A - het . 12 +exonic SCML2 chrX 18342034 18342034 G A het . 40 +intronic SCML2 chrX 18349481 18349481 A G het . 4 +intronic CDKL5 chrX 18582647 18582648 AT - het . 11 +intronic CDKL5 chrX 18597869 18597869 C A het . 20 +intronic CDKL5 chrX 18600337 18600341 ACTTC - het . 4 +intronic CDKL5 chrX 18613718 18613718 A G het . 6 +intronic CDKL5 chrX 18616437 18616437 T - het . 8 +intronic CDKL5 chrX 18638204 18638204 T A het . 3 +intronic RS1 chrX 18671795 18671796 AT GA het . 10 +exonic RS1 chrX 18674870 18674870 G A het . 28 +intronic PPEF1 chrX 18716672 18716672 T C het . 2 +intronic PPEF1 chrX 18727628 18727628 - T het . 5 +intronic PPEF1 chrX 18744980 18744980 A G het . 3 +intronic PPEF1 chrX 18769306 18769306 C T het . 2 +intronic PPEF1 chrX 18779721 18779721 A G het . 19 +intronic PPEF1 chrX 18790760 18790760 T A het . 2 +intronic PPEF1 chrX 18800532 18800532 T - het . 5 +intronic PPEF1 chrX 18820497 18820497 G T het . 3 +intronic PPEF1 chrX 18836489 18836489 T - het . 2 +intronic PPEF1 chrX 18844012 18844012 G A het . 4 +intergenic PPEF1(dist=16739),PHKA2-AS1(dist=45641) chrX 18862773 18862773 G T het . 4 +intergenic PPEF1(dist=41795),PHKA2-AS1(dist=20585) chrX 18887829 18887829 A T het . 2 +ncRNA_intronic PHKA2-AS1 chrX 18909500 18909500 G A het . 2 +intronic PHKA2 chrX 18913383 18913383 C A het . 14 +intronic PHKA2 chrX 18924038 18924038 T G het . 24 +intronic PHKA2 chrX 18929129 18929131 TTT - het . 15 +intronic PHKA2 chrX 18936711 18936711 C A het . 16 +intronic PHKA2 chrX 18987235 18987235 A - het . 2 +intronic ADGRG2 chrX 19014395 19014395 G T het . 13 +intronic ADGRG2 chrX 19018110 19018111 TT - het . 4 +intronic ADGRG2 chrX 19041592 19041592 C T het . 14 +intronic ADGRG2 chrX 19046207 19046207 C A het . 25 +intronic ADGRG2 chrX 19051528 19051528 A G het . 3 +intronic ADGRG2 chrX 19058405 19058405 C T het . 15 +intronic ADGRG2 chrX 19100277 19100277 G A het . 4 +intergenic ADGRG2(dist=6373),PDHA1(dist=214883) chrX 19147128 19147128 T - het . 3 +UTR3 PDHA1(NM_001173456:c.*1598G>C,NM_001173455:c.*1598G>C,NM_001173454:c.*1598G>C,NM_000284:c.*1598G>C) chrX 19379369 19379369 G C het . 7 +intronic MAP3K15 chrX 19380976 19380976 A - het . 10 +intronic MAP3K15 chrX 19465672 19465672 C T het . 2 +intronic MAP3K15 chrX 19475368 19475368 A G het . 3 +intronic MAP3K15 chrX 19477177 19477177 C T het . 2 +intronic MAP3K15 chrX 19478294 19478294 T A het . 7 +intronic MAP3K15 chrX 19478336 19478336 - A het . 2 +exonic MAP3K15 chrX 19482476 19482476 C T het . 14 +intronic MAP3K15 chrX 19518385 19518385 G A het . 2 +intergenic MAP3K15(dist=13612),SH3KBP1(dist=5092) chrX 19546991 19546991 G A het . 2 +exonic SH3KBP1 chrX 19555872 19555872 T C het . 22 +intronic SH3KBP1 chrX 19564495 19564495 G T het . 2 +intronic SH3KBP1 chrX 19688958 19688959 AA - het . 10 +intronic BCLAF3 chrX 19955434 19955434 T C het . 29 +intronic RPS6KA3 chrX 20194480 20194481 AA - het . 38 +exonic RPS6KA3 chrX 20252889 20252889 A C het . 28 +intergenic RPS6KA3(dist=58043),CNKSR2(dist=1049623) chrX 20342793 20342793 C T het . 2 +intergenic RPS6KA3(dist=77450),CNKSR2(dist=1030216) chrX 20362200 20362200 G A het . 2 +intergenic RPS6KA3(dist=181779),CNKSR2(dist=925887) chrX 20466529 20466529 C T het . 3 +intergenic RPS6KA3(dist=405873),CNKSR2(dist=701793) chrX 20690623 20690623 G T het . 2 +intergenic RPS6KA3(dist=412366),CNKSR2(dist=695300) chrX 20697116 20697116 C T het . 3 +intergenic RPS6KA3(dist=587826),CNKSR2(dist=519840) chrX 20872576 20872576 A G het . 2 +intergenic RPS6KA3(dist=651646),CNKSR2(dist=456020) chrX 20936396 20936396 A T het . 2 +intergenic RPS6KA3(dist=740291),CNKSR2(dist=367375) chrX 21025041 21025041 A T het . 4 +intergenic RPS6KA3(dist=786280),CNKSR2(dist=321386) chrX 21071030 21071030 A T het . 2 +intronic CNKSR2 chrX 21444831 21444831 G T het . 7 +intronic CNKSR2 chrX 21444852 21444852 C T het . 5 +intronic CNKSR2 chrX 21516016 21516016 T C het . 19 +intronic CNKSR2 chrX 21609133 21609133 C T het . 6 +intronic CNKSR2 chrX 21613200 21613200 - T het . 18 +intronic SMPX chrX 21751962 21751962 T A het . 5 +intronic SMPX chrX 21753855 21753855 G A het . 2 +intronic SMPX chrX 21756096 21756096 T A het . 2 +intronic SMPX chrX 21762219 21762219 C A het . 2 +intergenic SMPX(dist=37452),MBTPS2(dist=43926) chrX 21813730 21813730 G A het . 3 +intergenic SMPX(dist=37472),MBTPS2(dist=43906) chrX 21813750 21813750 G A het . 2 +exonic MBTPS2 chrX 21861434 21861434 A G het . 35 +intronic MBTPS2 chrX 21879891 21879891 G A het . 2 +intronic MBTPS2 chrX 21887387 21887387 C T het . 3 +intronic MBTPS2 chrX 21889105 21889105 C T het . 5 +intronic MBTPS2 chrX 21900412 21900412 G - het . 3 +intronic SMS chrX 21974572 21974572 T A het . 3 +intronic SMS chrX 21985174 21985174 - TTTATTTA het . 3 +intronic SMS chrX 21985464 21985464 C T het . 14 +intronic SMS chrX 21985543 21985543 C A het . 5 +intronic SMS chrX 21989853 21989853 C A het . 16 +intronic SMS chrX 21989957 21989957 T - het . 16 +intronic SMS chrX 21997306 21997306 - T het . 4 +intronic SMS chrX 22002711 22002711 A G het . 7 +intronic SMS chrX 22003230 22003230 T C het . 32 +intergenic SMS(dist=2585),PHEX(dist=35022) chrX 22015540 22015540 T C het . 2 +intergenic SMS(dist=23670),PHEX(dist=13937) chrX 22036625 22036625 C T het . 2 +intergenic SMS(dist=30525),PHEX(dist=7082) chrX 22043480 22043480 T C het . 2 +UTR5 PHEX(NM_001282754:c.-90A>G,NM_000444:c.-90A>G) chrX 22051034 22051034 A G het . 11 +intronic PHEX chrX 22062868 22062870 AAA - het . 4 +intronic PHEX chrX 22196078 22196078 G T het . 2 +ncRNA_intronic PTCHD1-AS chrX 22244328 22244328 A G het . 5 +ncRNA_intronic PTCHD1-AS chrX 22244529 22244529 T - het . 23 +ncRNA_intronic PTCHD1-AS chrX 22290034 22290034 T G het . 1 +exonic CBLL2 chrX 22291606 22291606 C A het . 17 +exonic CBLL2 chrX 22291732 22291732 C T het . 13 +ncRNA_intronic PTCHD1-AS chrX 22328459 22328460 TT - het . 2 +ncRNA_intronic PTCHD1-AS chrX 22328467 22328467 T G het . 2 +ncRNA_intronic PTCHD1-AS chrX 22335401 22335401 G A het . 2 +ncRNA_intronic PTCHD1-AS chrX 22399361 22399361 T C het . 2 +ncRNA_intronic PTCHD1-AS chrX 22453751 22453751 G A het . 18 +ncRNA_intronic PTCHD1-AS chrX 22454307 22454307 T G het . 11 +ncRNA_intronic PTCHD1-AS chrX 22454537 22454537 T C het . 11 +ncRNA_intronic PTCHD1-AS chrX 22497224 22497224 T C het . 2 +ncRNA_intronic PTCHD1-AS chrX 22515060 22515060 C A het . 2 +ncRNA_intronic PTCHD1-AS chrX 22543532 22543532 T A het . 3 +ncRNA_intronic PTCHD1-AS chrX 22647386 22647386 A G het . 2 +ncRNA_intronic PTCHD1-AS chrX 22706553 22706553 A G het . 2 +ncRNA_intronic PTCHD1-AS chrX 22758518 22758518 T C het . 2 +ncRNA_intronic PTCHD1-AS chrX 22789838 22789838 T C het . 3 +ncRNA_intronic PTCHD1-AS chrX 22796794 22796794 T C het . 3 +ncRNA_intronic PTCHD1-AS chrX 22800226 22800226 C G het . 2 +ncRNA_intronic PTCHD1-AS chrX 22998035 22998035 T C het . 2 +ncRNA_intronic PTCHD1-AS chrX 23039472 23039472 C A het . 2 +ncRNA_intronic PTCHD1-AS chrX 23040601 23040601 C T het . 3 +ncRNA_intronic PTCHD1-AS chrX 23072842 23072842 C A het . 2 +ncRNA_intronic PTCHD1-AS chrX 23093607 23093607 A G het . 3 +ncRNA_intronic PTCHD1-AS chrX 23093652 23093652 T G het . 2 +ncRNA_intronic PTCHD1-AS chrX 23093656 23093656 A G het . 2 +ncRNA_intronic PTCHD1-AS chrX 23103573 23103573 A G het . 2 +ncRNA_intronic PTCHD1-AS chrX 23106351 23106351 T C het . 2 +ncRNA_intronic PTCHD1-AS chrX 23126748 23126748 A G het . 3 +ncRNA_intronic PTCHD1-AS chrX 23150691 23150691 T A het . 4 +ncRNA_intronic PTCHD1-AS chrX 23216449 23216449 G C het . 11 +ncRNA_intronic PTCHD1-AS chrX 23238425 23238425 A G het . 4 +ncRNA_intronic PTCHD1-AS chrX 23264943 23264943 T - het . 3 +intergenic PTCHD1-AS(dist=11432),PTCHD1(dist=30290) chrX 23322695 23322695 G A het . 2 +intronic PTCHD1 chrX 23374977 23374977 A T het . 1 +exonic PTCHD1 chrX 23398214 23398214 T C het . 10 +intergenic PTCHD1(dist=50842),PRDX4(dist=219885) chrX 23465760 23465760 C T het . 2 +intergenic PTCHD1(dist=53417),PRDX4(dist=217310) chrX 23468335 23468335 C A het . 2 +intergenic PTCHD1(dist=94877),PRDX4(dist=175850) chrX 23509795 23509795 T - het . 9 +intergenic PTCHD1(dist=110546),PRDX4(dist=160181) chrX 23525464 23525464 A G het . 2 +intergenic PTCHD1(dist=141712),PRDX4(dist=129015) chrX 23556630 23556630 G T het . 2 +intergenic PTCHD1(dist=146014),PRDX4(dist=124713) chrX 23560932 23560932 - C het . 3 +intergenic PTCHD1(dist=151017),PRDX4(dist=119710) chrX 23565935 23565935 T C het . 2 +intergenic PTCHD1(dist=230153),PRDX4(dist=40574) chrX 23645071 23645071 C T het . 2 +intergenic PTCHD1(dist=241838),PRDX4(dist=28889) chrX 23656756 23656756 - C het . 3 +intergenic PTCHD1(dist=260607),PRDX4(dist=10120) chrX 23675525 23675525 T G het . 2 +intergenic PTCHD1(dist=260609),PRDX4(dist=10118) chrX 23675527 23675527 G A het . 2 +intergenic PTCHD1(dist=261059),PRDX4(dist=9664) chrX 23675977 23675981 AAAAA - het . 2 +intergenic PTCHD1(dist=267648),PRDX4(dist=3079) chrX 23682566 23682566 G C het . 4 +intergenic PTCHD1(dist=267959),PRDX4(dist=2768) chrX 23682877 23682877 T C het . 2 +intronic PRDX4 chrX 23685964 23685964 T C het . 4 +intronic PRDX4 chrX 23689422 23689422 T A het . 1 +intronic PRDX4 chrX 23689636 23689637 AT TC het . 17 +intronic PRDX4 chrX 23695236 23695236 T C het . 2 +intronic PRDX4 chrX 23697485 23697485 G A het . 2 +intronic PRDX4 chrX 23700473 23700473 G A het . 2 +intronic PRDX4 chrX 23700693 23700693 A G het . 2 +intronic PRDX4 chrX 23701662 23701662 G A het . 10 +intronic PRDX4 chrX 23704121 23704121 C A het . 13 +exonic ACOT9 chrX 23722835 23722835 A G het . 11 +intronic ACOT9 chrX 23723554 23723554 C T het . 4 +intronic ACOT9 chrX 23739857 23739857 A G het . 5 +intronic ACOT9 chrX 23740964 23740964 C A het . 12 +intronic ACOT9 chrX 23744787 23744787 T - het . 2 +intronic ACOT9 chrX 23747746 23747746 - T het . 2 +intergenic ACOT9(dist=19788),SAT1(dist=20080) chrX 23781195 23781195 G T het . 2 +intergenic ACOT9(dist=34624),SAT1(dist=5244) chrX 23796031 23796031 G C het . 2 +intronic SAT1 chrX 23801593 23801593 A G het . 6 +intergenic SAT1(dist=10593),APOO(dist=36532) chrX 23814933 23814933 G A het . 1 +UTR3 APOO(NM_024122:c.*7C>T) chrX 23858452 23858452 G A het . 18 +intronic APOO chrX 23886691 23886691 G C het . 19 +intronic APOO chrX 23887272 23887272 C T het . 2 +intronic APOO chrX 23895563 23895563 G A het . 2 +intronic APOO chrX 23899112 23899112 C T het . 8 +intronic APOO chrX 23901014 23901014 G T het . 2 +UTR5 APOO(NM_024122:c.-15T>A) chrX 23925834 23925834 A T het . 13 +exonic CXorf58 chrX 23928489 23928489 C T het . 14 +intronic CXorf58 chrX 23930071 23930071 T - het . 6 +intronic CXorf58 chrX 23932476 23932476 T G het . 2 +intronic CXorf58 chrX 23934199 23934199 C A het . 2 +intronic CXorf58 chrX 23934202 23934202 A G het . 3 +intronic CXorf58 chrX 23945611 23945611 G T het . 3 +intergenic CXorf58(dist=12509),KLHL15(dist=31700) chrX 23970133 23970133 G A het . 2 +intergenic CXorf58(dist=16570),KLHL15(dist=27639) chrX 23974194 23974194 C T het . 2 +intergenic CXorf58(dist=26175),KLHL15(dist=18034) chrX 23983799 23983799 A T het . 2 +intergenic KLHL15(dist=7245),EIF2S3(dist=20517) chrX 24052548 24052548 T - het . 4 +exonic EIF2S3 chrX 24073761 24073761 C T het . 33 +intronic EIF2S3 chrX 24090022 24090022 T C het . 9 +intergenic EIF2S3(dist=33825),ZFX-AS1(dist=33590) chrX 24130752 24130752 C T het . 2 +intergenic EIF2S3(dist=61408),ZFX-AS1(dist=6007) chrX 24158335 24158335 C T het . 2 +intergenic EIF2S3(dist=61424),ZFX-AS1(dist=5991) chrX 24158351 24158351 A T het . 2 +intronic ZFX chrX 24225362 24225362 - T het . 13 +intergenic ZFX(dist=41998),SUPT20HL2(dist=49962) chrX 24276370 24276370 T A het . 2 +exonic SUPT20HL1 chrX 24381387 24381387 G C het . 16 +exonic SUPT20HL1 chrX 24383398 24383398 A C het . 22 +intronic PDK3 chrX 24504833 24504833 C T het . 2 +intronic PDK3 chrX 24513196 24513196 G A het . 2 +intronic PDK3 chrX 24545949 24545949 C G het . 3 +intronic PDK3 chrX 24557178 24557178 A G het . 9 +UTR3 PCYT1B(NM_001163264:c.*2819A>T,NM_004845:c.*2819A>T,NM_001163265:c.*2611A>T) chrX 24577591 24577591 T A het . 3 +intronic PCYT1B chrX 24580746 24580746 A G het . 9 +intronic PCYT1B chrX 24592772 24592772 G C het . 2 +intronic PCYT1B chrX 24593454 24593454 A - het . 9 +intronic PCYT1B chrX 24593513 24593513 T G het . 9 +intronic PCYT1B chrX 24605227 24605227 C T het . 3 +intronic PCYT1B chrX 24649521 24649521 A G het . 2 +intronic POLA1 chrX 24751958 24751958 T C het . 9 +intronic POLA1 chrX 24766651 24766651 G A het . 5 +splicing POLA1(NM_001330360:exon33:c.3737-1G>A,NM_016937:exon33:c.3719-1G>A) chrX 24859768 24859768 G A het . 2 +intronic POLA1 chrX 24873722 24873722 C T het . 2 +intergenic ARX(dist=7556),MAGEB18(dist=1114839) chrX 25041621 25041621 - C het . 2 +intergenic ARX(dist=13628),MAGEB18(dist=1108767) chrX 25047693 25047693 C T het . 16 +intergenic ARX(dist=72761),MAGEB18(dist=1049634) chrX 25106826 25106826 T G het . 2 +intergenic ARX(dist=77738),MAGEB18(dist=1044657) chrX 25111803 25111803 G C het . 2 +intergenic ARX(dist=120988),MAGEB18(dist=1001407) chrX 25155053 25155053 A G het . 2 +intergenic ARX(dist=120990),MAGEB18(dist=1001405) chrX 25155055 25155055 - TT het . 2 +intergenic ARX(dist=149694),MAGEB18(dist=972701) chrX 25183759 25183759 C T het . 2 +intergenic ARX(dist=158461),MAGEB18(dist=963934) chrX 25192526 25192526 A T het . 2 +intergenic ARX(dist=165055),MAGEB18(dist=957340) chrX 25199120 25199120 C G het . 4 +intergenic ARX(dist=167436),MAGEB18(dist=954959) chrX 25201501 25201501 A G het . 2 +intergenic ARX(dist=199918),MAGEB18(dist=922477) chrX 25233983 25233983 G C het . 2 +intergenic ARX(dist=200716),MAGEB18(dist=921679) chrX 25234781 25234781 A G het . 2 +intergenic ARX(dist=214328),MAGEB18(dist=908067) chrX 25248393 25248393 T C het . 2 +intergenic ARX(dist=266032),MAGEB18(dist=856363) chrX 25300097 25300097 A G het . 2 +intergenic ARX(dist=266897),MAGEB18(dist=855498) chrX 25300962 25300962 G A het . 2 +intergenic ARX(dist=344049),MAGEB18(dist=778346) chrX 25378114 25378114 A C het . 2 +intergenic ARX(dist=368325),MAGEB18(dist=754070) chrX 25402390 25402390 G A het . 3 +intergenic ARX(dist=438629),MAGEB18(dist=683766) chrX 25472694 25472694 T C het . 2 +intergenic ARX(dist=459417),MAGEB18(dist=662978) chrX 25493482 25493482 A C het . 2 +intergenic ARX(dist=500544),MAGEB18(dist=621851) chrX 25534609 25534609 A G het . 2 +intergenic ARX(dist=508751),MAGEB18(dist=613644) chrX 25542816 25542816 T G het . 2 +intergenic ARX(dist=509155),MAGEB18(dist=613240) chrX 25543220 25543220 A G het . 3 +intergenic ARX(dist=509201),MAGEB18(dist=613193) chrX 25543266 25543267 TT - het . 3 +intergenic ARX(dist=512620),MAGEB18(dist=609775) chrX 25546685 25546685 T A het . 2 +intergenic ARX(dist=517447),MAGEB18(dist=604948) chrX 25551512 25551512 A - het . 5 +intergenic ARX(dist=518066),MAGEB18(dist=604329) chrX 25552131 25552131 C T het . 2 +intergenic ARX(dist=524220),MAGEB18(dist=598175) chrX 25558285 25558285 G T het . 2 +intergenic ARX(dist=528821),MAGEB18(dist=593574) chrX 25562886 25562886 A G het . 2 +intergenic ARX(dist=717301),MAGEB18(dist=405094) chrX 25751366 25751366 C T het . 2 +intergenic ARX(dist=749324),MAGEB18(dist=373071) chrX 25783389 25783389 C T het . 1 +intergenic ARX(dist=765020),MAGEB18(dist=357375) chrX 25799085 25799085 C T het . 3 +intergenic ARX(dist=765045),MAGEB18(dist=357350) chrX 25799110 25799110 A C het . 2 +intergenic ARX(dist=806168),MAGEB18(dist=316227) chrX 25840233 25840233 G A het . 2 +intergenic ARX(dist=852708),MAGEB18(dist=269687) chrX 25886773 25886773 T C het . 2 +intergenic ARX(dist=895661),MAGEB18(dist=226734) chrX 25929726 25929726 G C het . 2 +intergenic ARX(dist=955683),MAGEB18(dist=166712) chrX 25989748 25989748 - A het . 2 +intergenic ARX(dist=992385),MAGEB18(dist=130010) chrX 26026450 26026450 A C het . 2 +intergenic ARX(dist=1056109),MAGEB18(dist=66286) chrX 26090174 26090174 A G het . 2 +UTR5 MAGEB18(NM_173699:c.-45_-44delinsCC) chrX 26157058 26157059 TT CC het . 8 +exonic MAGEB18 chrX 26157220 26157220 C T het . 33 +exonic MAGEB18 chrX 26157792 26157792 C T het . 26 +intergenic MAGEB18(dist=20679),MAGEB6(dist=31025) chrX 26179532 26179532 A G het . 21 +intergenic MAGEB18(dist=20722),MAGEB6(dist=30982) chrX 26179575 26179575 T G het . 24 +intergenic MAGEB18(dist=29903),MAGEB6(dist=21801) chrX 26188756 26188756 T C het . 2 +intergenic MAGEB6(dist=7439),MAGEB5(dist=13084) chrX 26221202 26221202 A - het . 2 +intergenic MAGEB5(dist=62738),VENTXP1(dist=277329) chrX 26299125 26299125 T - het . 3 +intergenic MAGEB5(dist=82928),VENTXP1(dist=257139) chrX 26319315 26319315 A C het . 3 +intergenic MAGEB5(dist=107755),VENTXP1(dist=232309) chrX 26344142 26344145 TGTT - het . 3 +intergenic MAGEB5(dist=156169),VENTXP1(dist=183898) chrX 26392556 26392556 G A het . 2 +intergenic MAGEB5(dist=218285),VENTXP1(dist=121782) chrX 26454672 26454672 A G het . 2 +intergenic VENTXP1(dist=96202),PPP4R3C(dist=802957) chrX 26675371 26675371 A C het . 2 +intergenic VENTXP1(dist=124981),PPP4R3C(dist=774178) chrX 26704150 26704150 C T het . 7 +intergenic VENTXP1(dist=126295),PPP4R3C(dist=772864) chrX 26705464 26705464 - A het . 9 +intergenic VENTXP1(dist=128272),PPP4R3C(dist=770887) chrX 26707441 26707441 G T het . 2 +intergenic VENTXP1(dist=168692),PPP4R3C(dist=730467) chrX 26747861 26747861 A C het . 2 +intergenic VENTXP1(dist=215707),PPP4R3C(dist=683452) chrX 26794876 26794876 A G het . 3 +intergenic VENTXP1(dist=277212),PPP4R3C(dist=621947) chrX 26856381 26856381 C T het . 2 +intergenic VENTXP1(dist=308431),PPP4R3C(dist=590728) chrX 26887600 26887600 C T het . 2 +intergenic VENTXP1(dist=339341),PPP4R3C(dist=559818) chrX 26918510 26918510 G T het . 3 +intergenic VENTXP1(dist=449024),PPP4R3C(dist=450135) chrX 27028193 27028193 G T het . 4 +intergenic VENTXP1(dist=449173),PPP4R3C(dist=449986) chrX 27028342 27028342 T A het . 2 +intergenic VENTXP1(dist=453354),PPP4R3C(dist=445805) chrX 27032523 27032523 A G het . 4 +intergenic VENTXP1(dist=534866),PPP4R3C(dist=364293) chrX 27114035 27114035 C T het . 2 +intergenic VENTXP1(dist=554043),PPP4R3C(dist=345116) chrX 27133212 27133212 G A het . 3 +intergenic VENTXP1(dist=554133),PPP4R3C(dist=345026) chrX 27133302 27133302 T C het . 7 +intergenic VENTXP1(dist=562685),PPP4R3C(dist=336474) chrX 27141854 27141854 C G het . 2 +intergenic VENTXP1(dist=571830),PPP4R3C(dist=327329) chrX 27150999 27150999 C T het . 2 +intergenic VENTXP1(dist=599752),PPP4R3C(dist=299407) chrX 27178921 27178921 A C het . 2 +intergenic VENTXP1(dist=688020),PPP4R3C(dist=211139) chrX 27267189 27267189 T C het . 2 +intergenic VENTXP1(dist=698706),PPP4R3C(dist=200453) chrX 27277875 27277875 C A het . 2 +intergenic VENTXP1(dist=700677),PPP4R3C(dist=198482) chrX 27279846 27279846 - TTC het . 1 +intergenic VENTXP1(dist=711040),PPP4R3C(dist=188119) chrX 27290209 27290209 G T het . 2 +intergenic VENTXP1(dist=733533),PPP4R3C(dist=165626) chrX 27312702 27312702 A G het . 2 +intergenic VENTXP1(dist=745936),PPP4R3C(dist=153223) chrX 27325105 27325105 T C het . 2 +intergenic VENTXP1(dist=752469),PPP4R3C(dist=146690) chrX 27331638 27331638 A G het . 2 +intergenic VENTXP1(dist=754246),PPP4R3C(dist=144913) chrX 27333415 27333415 A T het . 2 +intergenic VENTXP1(dist=774001),PPP4R3C(dist=125158) chrX 27353170 27353170 C T het . 2 +intergenic VENTXP1(dist=778381),PPP4R3C(dist=120778) chrX 27357550 27357550 T C het . 2 +intergenic VENTXP1(dist=812842),PPP4R3C(dist=86317) chrX 27392011 27392011 T C het . 2 +intergenic VENTXP1(dist=838750),PPP4R3C(dist=60409) chrX 27417919 27417919 A T het . 2 +intergenic VENTXP1(dist=863745),PPP4R3C(dist=35414) chrX 27442914 27442914 A G het . 2 +intergenic VENTXP1(dist=865587),PPP4R3C(dist=33572) chrX 27444756 27444756 G A het . 3 +intergenic VENTXP1(dist=866820),PPP4R3C(dist=32339) chrX 27445989 27445989 A G het . 2 +intergenic VENTXP1(dist=868281),PPP4R3C(dist=30878) chrX 27447450 27447450 A G het . 2 +intergenic VENTXP1(dist=881472),PPP4R3C(dist=17687) chrX 27460641 27460641 A T het . 10 +intergenic VENTXP1(dist=890956),PPP4R3C(dist=8203) chrX 27470125 27470125 A T het . 2 +exonic PPP4R3C chrX 27479339 27479339 A G het . 42 +intergenic PPP4R3C(dist=22752),DCAF8L2(dist=104289) chrX 27504210 27504210 C T het . 2 +intergenic PPP4R3C(dist=34437),DCAF8L2(dist=92604) chrX 27515895 27515895 A G het . 3 +intergenic PPP4R3C(dist=37363),DCAF8L2(dist=89678) chrX 27518821 27518821 G A het . 2 +intergenic PPP4R3C(dist=49460),DCAF8L2(dist=77581) chrX 27530918 27530918 A C het . 2 +intergenic PPP4R3C(dist=55061),DCAF8L2(dist=71980) chrX 27536519 27536519 T C het . 12 +intergenic PPP4R3C(dist=55130),DCAF8L2(dist=71911) chrX 27536588 27536588 T C het . 3 +intergenic PPP4R3C(dist=55376),DCAF8L2(dist=71665) chrX 27536834 27536834 T C het . 11 +intergenic PPP4R3C(dist=55937),DCAF8L2(dist=71104) chrX 27537395 27537395 T C het . 30 +intergenic PPP4R3C(dist=56523),DCAF8L2(dist=70518) chrX 27537981 27537981 A T het . 7 +intergenic PPP4R3C(dist=89091),DCAF8L2(dist=37950) chrX 27570549 27570549 T C het . 3 +intergenic PPP4R3C(dist=119601),DCAF8L2(dist=7440) chrX 27601059 27601059 T C het . 2 +intergenic PPP4R3C(dist=121165),DCAF8L2(dist=5876) chrX 27602623 27602623 - A het . 2 +intronic DCAF8L2 chrX 27714718 27714718 C T het . 2 +intronic DCAF8L2 chrX 27741005 27741005 T C het . 3 +exonic DCAF8L2 chrX 27766045 27766045 A G het . 29 +exonic DCAF8L2 chrX 27766776 27766776 G A het . 19 +exonic MAGEB10 chrX 27839572 27839572 T C het . 27 +exonic MAGEB10 chrX 27839617 27839617 G A het . 21 +intergenic DCAF8L1(dist=42581),MIR6134(dist=471525) chrX 28042147 28042147 T C het . 2 +intergenic DCAF8L1(dist=58215),MIR6134(dist=455891) chrX 28057781 28057781 G T het . 2 +intergenic DCAF8L1(dist=61637),MIR6134(dist=452469) chrX 28061203 28061203 G A het . 1 +intergenic DCAF8L1(dist=241631),MIR6134(dist=272475) chrX 28241197 28241197 C A het . 2 +intergenic DCAF8L1(dist=435115),MIR6134(dist=78991) chrX 28434681 28434681 G A het . 2 +intergenic DCAF8L1(dist=435120),MIR6134(dist=78986) chrX 28434686 28434686 G A het . 2 +intronic IL1RAPL1 chrX 28657772 28657772 C A het . 2 +intronic IL1RAPL1 chrX 28658758 28658758 C A het . 3 +intronic IL1RAPL1 chrX 28676918 28676918 A G het . 2 +intronic IL1RAPL1 chrX 28677269 28677269 G T het . 10 +intronic IL1RAPL1 chrX 28687244 28687244 A G het . 3 +intronic IL1RAPL1 chrX 28696403 28696403 G A het . 2 +intronic IL1RAPL1 chrX 28696445 28696445 G T het . 2 +intronic IL1RAPL1 chrX 28710013 28710013 T A het . 3 +intronic IL1RAPL1 chrX 28755618 28755618 A G het . 2 +intronic IL1RAPL1 chrX 28757336 28757336 A C het . 2 +intronic IL1RAPL1 chrX 28770685 28770685 G A het . 2 +intronic IL1RAPL1 chrX 29098481 29098481 A G het . 2 +intronic IL1RAPL1 chrX 29145042 29145042 C T het . 2 +intronic IL1RAPL1 chrX 29228261 29228261 T G het . 2 +intronic IL1RAPL1 chrX 29289863 29289863 A T het . 2 +intronic IL1RAPL1 chrX 29292986 29292986 T C het . 2 +intronic IL1RAPL1 chrX 29306980 29306980 G A het . 2 +intronic IL1RAPL1 chrX 29371502 29371502 A G het . 2 +intronic IL1RAPL1 chrX 29384420 29384420 G C het . 2 +intronic IL1RAPL1 chrX 29386678 29386678 G A het . 7 +intronic IL1RAPL1 chrX 29408416 29408416 G C het . 3 +intronic IL1RAPL1 chrX 29417510 29417510 C A het . 11 +intronic IL1RAPL1 chrX 29440949 29440949 G T het . 2 +intronic IL1RAPL1 chrX 29473483 29473483 C T het . 2 +intronic IL1RAPL1 chrX 29498038 29498038 A G het . 2 +intronic IL1RAPL1 chrX 29575234 29575234 T G het . 2 +intronic IL1RAPL1 chrX 29581553 29581553 G A het . 2 +intronic IL1RAPL1 chrX 29593553 29593553 G A het . 2 +intronic IL1RAPL1 chrX 29596003 29596003 A T het . 2 +intronic IL1RAPL1 chrX 29674004 29674004 C T het . 2 +intronic IL1RAPL1 chrX 29686660 29686660 G A het . 26 +intergenic IL1RAPL1(dist=249497),MAGEB2(dist=10161) chrX 30223514 30223514 T G het . 2 +intergenic IL1RAPL1(dist=258658),MAGEB2(dist=1000) chrX 30232675 30232675 A C het . 2 +exonic MAGEB2 chrX 30236878 30236878 G A het . 24 +exonic MAGEB3 chrX 30254361 30254361 G A het . 12 +exonic MAGEB3 chrX 30254376 30254376 T C het . 11 +exonic MAGEB3 chrX 30254530 30254530 A G het . 25 +exonic MAGEB4 chrX 30261002 30261002 A G het . 29 +exonic MAGEB4 chrX 30261158 30261158 G C het . 25 +intergenic MAGEB1(dist=25919),NR0B1(dist=26465) chrX 30296074 30296074 A G het . 3 +intergenic MAGEB1(dist=49126),NR0B1(dist=3258) chrX 30319281 30319281 G A het . 5 +intronic NR0B1 chrX 30323916 30323916 T G het . 16 +intergenic NR0B1(dist=39621),CXorf21(dist=209825) chrX 30367116 30367116 A T het . 3 +intergenic NR0B1(dist=79406),CXorf21(dist=170040) chrX 30406901 30406901 C T het . 2 +intergenic NR0B1(dist=191364),CXorf21(dist=58082) chrX 30518859 30518859 T C het . 1 +intergenic NR0B1(dist=207713),CXorf21(dist=41733) chrX 30535208 30535208 T C het . 3 +intergenic NR0B1(dist=232829),CXorf21(dist=16617) chrX 30560324 30560324 C T het . 2 +intergenic NR0B1(dist=242314),CXorf21(dist=7132) chrX 30569809 30569809 T A het . 2 +exonic CXorf21 chrX 30577846 30577846 A C het . 22 +intergenic CXorf21(dist=52261),GK(dist=23182) chrX 30648294 30648294 T C het . 4 +intergenic CXorf21(dist=52684),GK(dist=22759) chrX 30648717 30648717 G T het . 5 +intergenic CXorf21(dist=52690),GK(dist=22753) chrX 30648723 30648723 G A het . 4 +intronic GK chrX 30671807 30671807 T G het . 10 +intronic GK chrX 30712796 30712796 G C het . 11 +intronic GK chrX 30715827 30715827 C T het . 24 +intronic GK chrX 30719210 30719210 C A het . 10 +intronic GK chrX 30725794 30725794 C T het . 7 +intronic GK chrX 30725923 30725923 C T het . 5 +intronic GK chrX 30726150 30726150 T - het . 19 +intronic GK chrX 30742593 30742593 A - het . 3 +intronic GK chrX 30742691 30742691 T G het . 7 +intronic GK chrX 30745790 30745790 A T het . 8 +intergenic GK(dist=51227),TAB3(dist=44755) chrX 30800804 30800804 G T het . 1 +exonic TAB3 chrX 30872602 30872602 A G het . 18 +intergenic TAB3(dist=31612),FTHL17(dist=150235) chrX 30939123 30939123 C T het . 2 +intergenic TAB3(dist=49336),FTHL17(dist=132511) chrX 30956847 30956847 T C het . 4 +intergenic TAB3(dist=76382),FTHL17(dist=105465) chrX 30983893 30983893 C G het . 2 +intergenic TAB3(dist=77797),FTHL17(dist=104050) chrX 30985308 30985308 C A het . 3 +intergenic TAB3(dist=77831),FTHL17(dist=104016) chrX 30985342 30985342 A G het . 2 +intergenic TAB3(dist=126560),FTHL17(dist=55287) chrX 31034071 31034071 T C het . 2 +intergenic TAB3(dist=142886),FTHL17(dist=38961) chrX 31050397 31050397 T G het . 2 +exonic FTHL17 chrX 31089930 31089930 C T het . 20 +intergenic FTHL17(dist=42628),DMD(dist=4546) chrX 31132798 31132799 GG - het . 2 +intergenic FTHL17(dist=42636),DMD(dist=4539) chrX 31132806 31132806 G T het . 2 +intronic DMD chrX 31181577 31181577 G A het . 2 +intronic DMD chrX 31196138 31196138 - A het . 26 +intronic DMD chrX 31200833 31200833 T - het . 26 +intronic DMD chrX 31221860 31221860 G C het . 5 +intronic DMD chrX 31222577 31222577 T C het . 2 +intronic DMD chrX 31224684 31224684 A G het . 18 +intronic DMD chrX 31224881 31224881 G A het . 15 +intronic DMD chrX 31224994 31224994 A G het . 2 +intronic DMD chrX 31233043 31233043 - TTTCTTT het . 2 +intronic DMD chrX 31255846 31255846 T A het . 2 +intronic DMD chrX 31264056 31264056 G C het . 2 +intronic DMD chrX 31265048 31265048 - A het . 2 +intronic DMD chrX 31269216 31269216 A C het . 2 +intronic DMD chrX 31270129 31270129 T C het . 2 +intronic DMD chrX 31279271 31279271 T C het . 17 +intronic DMD chrX 31307383 31307383 T - het . 2 +intronic DMD chrX 31307385 31307385 A T het . 2 +intronic DMD chrX 31312121 31312121 G A het . 2 +intronic DMD chrX 31350022 31350022 C T het . 2 +intronic DMD chrX 31366484 31366484 C A het . 11 +exonic DMD chrX 31496350 31496350 C T het . 31 +intronic DMD chrX 31561277 31561277 T C het . 2 +intronic DMD chrX 31574483 31574483 - A het . 4 +intronic DMD chrX 31624176 31624176 G C het . 2 +intronic DMD chrX 31666315 31666315 T C het . 2 +intronic DMD chrX 31673506 31673506 T C het . 2 +intronic DMD chrX 31697168 31697168 C T het . 3 +exonic DMD chrX 31697636 31697636 A G het . 38 +intronic DMD chrX 31792559 31792559 G A het . 9 +intronic DMD chrX 31832032 31832032 C T het . 2 +intronic DMD chrX 31838359 31838359 T G het . 10 +intronic DMD chrX 31853002 31853002 A G het . 1 +intronic DMD chrX 31854782 31854782 G C het . 13 +intronic DMD chrX 31897253 31897253 G A het . 2 +intronic DMD chrX 31986430 31986430 C A het . 23 +intronic DMD chrX 31986774 31986774 C T het . 11 +intronic DMD chrX 32053662 32053662 G C het . 12 +intronic DMD chrX 32123089 32123089 C A het . 2 +intronic DMD chrX 32172371 32172371 C T het . 2 +intronic DMD chrX 32198190 32198190 C T het . 2 +intronic DMD chrX 32223980 32223980 T C het . 4 +intronic DMD chrX 32224435 32224435 T C het . 20 +intronic DMD chrX 32235248 32235248 C A het . 16 +intronic DMD chrX 32287915 32287915 T C het . 2 +intronic DMD chrX 32305968 32305968 A G het . 11 +intronic DMD chrX 32469755 32469755 G - het . 2 +intronic DMD chrX 32472764 32472765 TT - het . 11 +intronic DMD chrX 32482540 32482540 A C het . 5 +exonic DMD chrX 32503194 32503194 T C het . 34 +intronic DMD chrX 32536452 32536452 A G het . 3 +intronic DMD chrX 32550241 32550241 A G het . 2 +intronic DMD chrX 32562387 32562387 C T het . 2 +intronic DMD chrX 32562998 32562998 T C het . 2 +intronic DMD chrX 32563054 32563054 C T het . 7 +intronic DMD chrX 32563263 32563263 A G het . 23 +intronic DMD chrX 32563488 32563488 A C het . 19 +intronic DMD chrX 32662122 32662122 C T het . 7 +intronic DMD chrX 32770666 32770666 A C het . 2 +intronic DMD chrX 32792649 32792649 G C het . 2 +intronic DMD chrX 32827465 32827465 A G het . 8 +intronic DMD chrX 32941330 32941330 T C het . 2 +intronic DMD chrX 32941564 32941564 G C het . 2 +intronic DMD chrX 33053745 33053745 T C het . 2 +intronic DMD chrX 33059661 33059661 C T het . 21 +intronic DMD chrX 33060008 33060008 - A het . 4 +intronic DMD chrX 33060025 33060025 C A het . 4 +intronic DMD chrX 33127097 33127097 A G het . 2 +intronic DMD chrX 33192255 33192255 G A het . 2 +intronic DMD chrX 33194924 33194924 T A het . 2 +intronic DMD chrX 33195499 33195499 T C het . 2 +intronic DMD chrX 33233959 33233959 G A het . 2 +intronic DMD chrX 33242696 33242696 T C het . 2 +intronic DMD chrX 33273661 33273661 A G het . 2 +intronic DMD chrX 33273667 33273667 G A het . 2 +intergenic DMD(dist=21084),FAM47A(dist=769059) chrX 33378810 33378810 T C het . 2 +intergenic DMD(dist=171240),FAM47A(dist=618903) chrX 33528966 33528966 T A het . 2 +intergenic DMD(dist=174450),FAM47A(dist=615693) chrX 33532176 33532176 C T het . 2 +intergenic DMD(dist=177560),FAM47A(dist=612583) chrX 33535286 33535286 T C het . 2 +intergenic DMD(dist=183760),FAM47A(dist=606383) chrX 33541486 33541486 G C het . 1 +intergenic DMD(dist=185998),FAM47A(dist=604145) chrX 33543724 33543724 G A het . 3 +intergenic DMD(dist=186927),FAM47A(dist=603216) chrX 33544653 33544653 A G het . 3 +intergenic DMD(dist=186943),FAM47A(dist=603200) chrX 33544669 33544669 C T het . 3 +intergenic DMD(dist=231842),FAM47A(dist=558301) chrX 33589568 33589568 T C het . 2 +intergenic DMD(dist=237523),FAM47A(dist=552620) chrX 33595249 33595249 A G het . 2 +intergenic DMD(dist=240028),FAM47A(dist=550115) chrX 33597754 33597754 - TAAT het . 3 +intergenic DMD(dist=287964),FAM47A(dist=502179) chrX 33645690 33645690 G A het . 2 +intergenic DMD(dist=453682),FAM47A(dist=336461) chrX 33811408 33811408 G A het . 2 +intergenic DMD(dist=457318),FAM47A(dist=332825) chrX 33815044 33815044 A G het . 2 +intergenic DMD(dist=462638),FAM47A(dist=327505) chrX 33820364 33820364 - C het . 3 +intergenic DMD(dist=518566),FAM47A(dist=271577) chrX 33876292 33876292 G T het . 2 +intergenic DMD(dist=610273),FAM47A(dist=179870) chrX 33967999 33967999 G A het . 1 +intergenic DMD(dist=610286),FAM47A(dist=179857) chrX 33968012 33968012 G A het . 2 +intergenic DMD(dist=653913),FAM47A(dist=136230) chrX 34011639 34011639 C T het . 2 +intergenic DMD(dist=762837),FAM47A(dist=27306) chrX 34120563 34120563 A C het . 2 +intergenic DMD(dist=768531),FAM47A(dist=21612) chrX 34126257 34126257 G A het . 2 +intergenic DMD(dist=771247),FAM47A(dist=18896) chrX 34128973 34128973 A G het . 2 +intergenic DMD(dist=780977),FAM47A(dist=9166) chrX 34138703 34138703 T A het . 2 +exonic FAM47A chrX 34148728 34148728 G A het . 15 +intergenic FAM47A(dist=14972),TMEM47(dist=479762) chrX 34165419 34165419 A G het . 8 +intergenic FAM47A(dist=127950),TMEM47(dist=366784) chrX 34278397 34278397 G C het . 4 +intergenic FAM47A(dist=218116),TMEM47(dist=276618) chrX 34368563 34368563 - AAAAAT het . 2 +exonic FAM47B chrX 34961240 34961240 C T het . 22 +exonic FAM47B chrX 34962110 34962110 C T het . 21 +UTR3 FAM47B(NM_152631:c.*23A>C) chrX 34962909 34962909 A C het . 4 +intergenic FAM47B(dist=54093),MAGEB16(dist=799332) chrX 35017127 35017127 A C het . 2 +intergenic FAM47B(dist=56626),MAGEB16(dist=796799) chrX 35019660 35019660 T C het . 2 +intergenic FAM47B(dist=114705),MAGEB16(dist=738720) chrX 35077739 35077739 G A het . 11 +intergenic FAM47B(dist=114789),MAGEB16(dist=738636) chrX 35077823 35077823 T C het . 5 +intergenic FAM47B(dist=147804),MAGEB16(dist=705621) chrX 35110838 35110838 A G het . 2 +intergenic FAM47B(dist=175718),MAGEB16(dist=677707) chrX 35138752 35138752 G A het . 2 +intergenic FAM47B(dist=221842),MAGEB16(dist=631583) chrX 35184876 35184876 A C het . 2 +intergenic FAM47B(dist=264875),MAGEB16(dist=588550) chrX 35227909 35227909 T C het . 2 +intergenic FAM47B(dist=274499),MAGEB16(dist=578926) chrX 35237533 35237533 C T het . 3 +intergenic FAM47B(dist=290085),MAGEB16(dist=563340) chrX 35253119 35253119 A G het . 2 +intergenic FAM47B(dist=352325),MAGEB16(dist=501100) chrX 35315359 35315359 G A het . 2 +intergenic FAM47B(dist=841538),MAGEB16(dist=11887) chrX 35804572 35804572 T C het . 2 +exonic MAGEB16 chrX 35820425 35820425 C T het . 13 +exonic MAGEB16 chrX 35820696 35820696 G A het . 19 +exonic MAGEB16 chrX 35820795 35820795 A G het . 22 +exonic MAGEB16 chrX 35821055 35821056 AT GA het . 35 +exonic MAGEB16 chrX 35821127 35821127 C T het . 19 +UTR3 MAGEB16(NM_001099921:c.*14C>G) chrX 35821302 35821302 C G het . 14 +UTR3 MAGEB16(NM_001099921:c.*20C>T) chrX 35821308 35821308 C T het . 12 +intergenic MAGEB16(dist=8683),CFAP47(dist=107316) chrX 35830535 35830535 T G het . 2 +exonic CFAP47 chrX 36091370 36091370 C A het . 37 +intronic CFAP47 chrX 36118113 36118113 - T het . 9 +intergenic LOC101928627(dist=3956),FAM47C(dist=564101) chrX 36462331 36462331 - ATC het . 2 +intergenic LOC101928627(dist=69658),FAM47C(dist=498399) chrX 36528033 36528033 A G het . 2 +intergenic LOC101928627(dist=266839),FAM47C(dist=301218) chrX 36725214 36725214 C A het . 2 +intergenic LOC101928627(dist=389388),FAM47C(dist=178669) chrX 36847763 36847763 A G het . 2 +intergenic LOC101928627(dist=423557),FAM47C(dist=144500) chrX 36881932 36881932 C T het . 2 +intergenic PRRG1(dist=54218),LANCL3(dist=60056) chrX 37370766 37370766 G A het . 2 +intronic LANCL3 chrX 37440384 37440385 CT - het . 2 +intronic CYBB chrX 37653151 37653152 AA - het . 4 +intronic CYBB chrX 37653174 37653174 C A het . 9 +intergenic CYBB(dist=16069),DYNLT3(dist=9306) chrX 37688783 37688783 C T het . 2 +exonic DYNLT3 chrX 37701048 37701048 G A het . 9 +intergenic DYNLT3(dist=86596),HYPM(dist=56585) chrX 37793485 37793485 A C het . 3 +intergenic DYNLT3(dist=98478),HYPM(dist=44703) chrX 37805367 37805367 A C het . 3 +intergenic DYNLT3(dist=98808),HYPM(dist=44373) chrX 37805697 37805697 A C het . 11 +intergenic DYNLT3(dist=118751),HYPM(dist=24430) chrX 37825640 37825640 C T het . 4 +intergenic DYNLT3(dist=131048),HYPM(dist=12133) chrX 37837937 37837937 A C het . 2 +exonic HYPM chrX 37850263 37850263 C T het . 27 +intronic SRPX chrX 38037479 38037479 A T het . 9 +intronic SRPX chrX 38061656 38061656 C T het . 2 +upstream SRPX(dist=526) chrX 38080703 38080703 G T het . 4 +intronic RPGR chrX 38160749 38160749 T C het . 15 +intergenic RPGR(dist=18010),OTC(dist=6938) chrX 38204798 38204798 T - het . 3 +intronic OTC chrX 38226428 38226429 AA - het . 8 +intronic OTC chrX 38240578 38240578 T - het . 26 +intronic OTC chrX 38280206 38280206 C T het . 15 +intronic TSPAN7 chrX 38481796 38481796 G A het . 2 +intronic TSPAN7 chrX 38481989 38481989 A G het . 3 +intronic TSPAN7 chrX 38515168 38515168 G T het . 18 +intronic TSPAN7 chrX 38532530 38532530 T C het . 4 +intronic TSPAN7 chrX 38535174 38535174 A G het . 13 +intronic TSPAN7 chrX 38540680 38540680 G C het . 7 +intergenic TSPAN7(dist=52122),MID1IP1-AS1(dist=60207) chrX 38600294 38600294 G T het . 2 +intergenic TSPAN7(dist=55154),MID1IP1-AS1(dist=57175) chrX 38603326 38603326 G A het . 2 +intergenic MID1IP1(dist=167782),LINC01281(dist=330645) chrX 38833565 38833565 T C het . 3 +intergenic MID1IP1(dist=171746),LINC01281(dist=326681) chrX 38837529 38837529 A G het . 1 +intergenic MID1IP1(dist=189721),LINC01281(dist=308706) chrX 38855504 38855504 A C het . 2 +intergenic MID1IP1(dist=190500),LINC01281(dist=307927) chrX 38856283 38856283 T C het . 3 +ncRNA_exonic LINC01281 chrX 39164510 39164510 G A het . 3 +intergenic LINC01281(dist=5095),LINC01282(dist=34827) chrX 39191711 39191712 AA - het . 2 +intergenic LINC01282(dist=139560),MIR3937(dist=129882) chrX 39390588 39390588 T G het . 1 +intergenic MIR3937(dist=126375),BCOR(dist=263549) chrX 39646950 39646950 G A het . 17 +intergenic MIR3937(dist=129224),BCOR(dist=260700) chrX 39649799 39649799 G T het . 3 +intergenic MIR3937(dist=173538),BCOR(dist=216386) chrX 39694113 39694113 A T het . 3 +intergenic MIR3937(dist=339756),BCOR(dist=50168) chrX 39860331 39860331 - C het . 2 +intronic BCOR chrX 39930434 39930434 A - het . 17 +exonic BCOR chrX 39933339 39933339 A G het . 33 +intergenic BCOR(dist=54216),LOC101927476(dist=31372) chrX 40090798 40090798 T C het . 2 +intergenic BCOR(dist=73626),LOC101927476(dist=11962) chrX 40110208 40110208 G T het . 2 +intergenic LOC101927476(dist=57410),ATP6AP2(dist=235832) chrX 40204384 40204384 A T het . 3 +intergenic LOC101927476(dist=117327),ATP6AP2(dist=175915) chrX 40264301 40264301 T G het . 2 +intergenic LOC101927476(dist=205259),ATP6AP2(dist=87983) chrX 40352233 40352233 G A het . 2 +exonic ATP6AP2 chrX 40450602 40450602 G A het . 31 +intronic ATP6AP2 chrX 40456961 40456961 G C het . 18 +intronic ATP6AP2 chrX 40457085 40457085 T C het . 2 +intronic ATP6AP2 chrX 40460183 40460183 - AA het . 12 +intergenic ATP6AP2(dist=12667),MPC1L(dist=4263) chrX 40478555 40478555 T C het . 2 +intronic CXorf38 chrX 40499403 40499403 C T het . 8 +intronic CXorf38 chrX 40502114 40502114 G C het . 1 +exonic CXorf38 chrX 40506697 40506697 A G het . 8 +intronic MED14 chrX 40514322 40514322 G A het . 8 +intronic MED14 chrX 40551600 40551601 AA - het . 8 +intronic MED14 chrX 40556492 40556492 C G het . 8 +intergenic LOC100132831(dist=143194),USP9X(dist=109245) chrX 40835643 40835643 T - het . 7 +intergenic LOC100132831(dist=143227),USP9X(dist=109212) chrX 40835676 40835676 C G het . 6 +intergenic LOC100132831(dist=157452),USP9X(dist=94987) chrX 40849901 40849901 - A het . 2 +intergenic LOC100132831(dist=173557),USP9X(dist=78882) chrX 40866006 40866006 C T het . 3 +intergenic LOC100132831(dist=187006),USP9X(dist=65433) chrX 40879455 40879455 A - het . 2 +intergenic LOC100132831(dist=191647),USP9X(dist=60792) chrX 40884096 40884096 - AACAA het . 2 +intronic USP9X chrX 40974681 40974681 C T het . 3 +intronic USP9X chrX 40985863 40985863 A G het . 2 +intronic USP9X chrX 41010475 41010475 T - het . 5 +intronic USP9X chrX 41017489 41017489 A G het . 3 +intronic USP9X chrX 41055311 41055311 G C het . 5 +intronic USP9X chrX 41070012 41070012 - A het . 4 +intronic USP9X chrX 41083867 41083867 C T het . 7 +intronic USP9X chrX 41089574 41089574 C A het . 19 +intronic USP9X chrX 41089590 41089590 T - het . 14 +UTR5 DDX3X(NM_001356:c.-40T>G,NM_001193416:c.-40T>G,NM_001193417:c.-40T>G,NM_001363819:c.-9018T>G) chrX 41193466 41193466 T G het . 10 +UTR5 DDX3X(NM_001363819:c.-4218_-4217del-) chrX 41198266 41198267 TA - het . 16 +intronic DDX3X chrX 41203119 41203119 G A het . 17 +intergenic DDX3X(dist=23188),NYX(dist=73985) chrX 41232728 41232728 T C het . 1 +intergenic DDX3X(dist=48485),NYX(dist=48688) chrX 41258025 41258025 G A het . 2 +intergenic DDX3X(dist=76155),NYX(dist=21018) chrX 41285695 41285695 T C het . 3 +intergenic DDX3X(dist=80185),NYX(dist=16988) chrX 41289725 41289725 G A het . 3 +intergenic DDX3X(dist=81515),NYX(dist=15658) chrX 41291055 41291055 T A het . 2 +intergenic DDX3X(dist=89123),NYX(dist=8050) chrX 41298663 41298663 C T het . 3 +intergenic DDX3X(dist=94118),NYX(dist=3055) chrX 41303658 41303658 T C het . 4 +intronic NYX chrX 41317379 41317379 C A het . 1 +intronic NYX chrX 41330645 41330645 G A het . 2 +intergenic NYX(dist=14228),CASK(dist=25056) chrX 41349133 41349133 A T het . 2 +UTR3 CASK(NM_003688:c.*2649_*2641delGCTGCTGCT,NM_001126055:c.*2649_*2641delGCTGCTGCT,NM_001126054:c.*2649_*2641delGCTGCTGCT) chrX 41377024 41377032 AGCAGCAGC - het . 18 +intronic CASK chrX 41383298 41383298 A - het . 19 +intronic CASK chrX 41383455 41383455 C T het . 15 +intronic CASK chrX 41422501 41422501 T G het . 2 +intronic CASK chrX 41446498 41446498 G C het . 7 +intronic CASK chrX 41448495 41448495 G T het . 2 +intronic CASK chrX 41530655 41530655 - T het . 17 +UTR5 GPR34(NM_001097579:c.-73T>C) chrX 41554814 41554814 T C het . 4 +exonic GPR82 chrX 41587218 41587218 T C het . 13 +intronic CASK chrX 41653563 41653563 G A het . 3 +intronic CASK chrX 41689562 41689562 C T het . 2 +intronic CASK chrX 41721855 41721855 T A het . 2 +UTR5 CASK(NM_003688:c.-42T>G,NM_001126055:c.-42T>G,NM_001126054:c.-42T>G) chrX 41782283 41782283 A C het . 2 +upstream CASK(dist=4) chrX 41782291 41782291 T G het . 2 +intergenic CASK(dist=175771),PPP1R2C(dist=678559) chrX 41958058 41958058 G C het . 3 +intergenic CASK(dist=176147),PPP1R2C(dist=678183) chrX 41958434 41958434 C A het . 5 +intergenic CASK(dist=176212),PPP1R2C(dist=678118) chrX 41958499 41958499 T C het . 3 +intergenic CASK(dist=210545),PPP1R2C(dist=643785) chrX 41992832 41992832 C G het . 2 +intergenic CASK(dist=216868),PPP1R2C(dist=637462) chrX 41999155 41999155 C A het . 3 +intergenic CASK(dist=439383),PPP1R2C(dist=414947) chrX 42221670 42221670 C G het . 2 +intergenic CASK(dist=600754),PPP1R2C(dist=253576) chrX 42383041 42383041 - T het . 2 +intergenic PPP1R2C(dist=237146),PINCR(dist=161611) chrX 42874632 42874632 T C het . 2 +intergenic PPP1R2C(dist=321931),PINCR(dist=76826) chrX 42959417 42959417 A G het . 2 +intergenic PINCR(dist=289831),MAOA(dist=138477) chrX 43375678 43375678 C T het . 2 +intergenic PINCR(dist=368638),MAOA(dist=59670) chrX 43454485 43454485 C G het . 3 +intronic MAOA chrX 43522062 43522062 T - het . 2 +intronic MAOA chrX 43548788 43548788 C T het . 2 +intronic MAOA chrX 43587868 43587868 C T het . 5 +exonic MAOA chrX 43591036 43591036 G T het . 37 +intronic MAOA chrX 43595428 43595428 A G het . 22 +intronic MAOA chrX 43595743 43595743 A G het . 1 +intronic MAOA chrX 43599898 43599898 T - het . 10 +intronic MAOA chrX 43601142 43601142 C T het . 13 +intronic MAOA chrX 43601363 43601363 A G het . 12 +exonic MAOA chrX 43603391 43603391 T C het . 44 +UTR3 MAOA(NM_001270458:c.*1081A>G,NM_000240:c.*1081A>G) chrX 43604841 43604841 A G het . 2 +intronic MAOB chrX 43628008 43628008 C A het . 18 +UTR5 MAOB(NM_000898:c.-71C>G) chrX 43741616 43741616 G C het . 3 +intergenic MAOB(dist=35094),NDP(dist=31209) chrX 43776815 43776815 G A het . 2 +intergenic NDP(dist=94172),EFHC2(dist=80035) chrX 43927093 43927093 G A het . 2 +intergenic NDP(dist=120651),EFHC2(dist=53556) chrX 43953572 43953572 - T het . 3 +intronic EFHC2 chrX 44202722 44202722 C A het . 9 +UTR5 EFHC2(NM_025184:c.-57_-56insG) chrX 44202890 44202890 - C het . 29 +upstream EFHC2(dist=124) chrX 44203047 44203047 C T het . 4 +upstream EFHC2(dist=213) chrX 44203136 44203136 G A het . 2 +intergenic EFHC2(dist=4704),FUNDC1(dist=175258) chrX 44207627 44207627 C T het . 2 +intergenic EFHC2(dist=37287),FUNDC1(dist=142675) chrX 44240210 44240210 C A het . 2 +intergenic EFHC2(dist=37300),FUNDC1(dist=142662) chrX 44240223 44240223 T C het . 3 +intergenic EFHC2(dist=53394),FUNDC1(dist=126568) chrX 44256317 44256317 G T het . 5 +intergenic EFHC2(dist=54299),FUNDC1(dist=125663) chrX 44257222 44257222 A G het . 5 +intergenic EFHC2(dist=61659),FUNDC1(dist=118303) chrX 44264582 44264582 A G het . 2 +intergenic EFHC2(dist=88687),FUNDC1(dist=91275) chrX 44291610 44291610 C - het . 2 +intronic FUNDC1 chrX 44385399 44385399 G A het . 2 +exonic FUNDC1 chrX 44401328 44401328 G A het . 8 +intergenic FUNDC1(dist=26041),DUSP21(dist=274987) chrX 44428262 44428262 - T het . 2 +intergenic FUNDC1(dist=33686),DUSP21(dist=267342) chrX 44435907 44435907 C T het . 2 +intergenic FUNDC1(dist=36878),DUSP21(dist=264150) chrX 44439099 44439099 C A het . 4 +intergenic FUNDC1(dist=37140),DUSP21(dist=263888) chrX 44439361 44439361 - T het . 8 +intergenic FUNDC1(dist=37141),DUSP21(dist=263887) chrX 44439362 44439362 G T het . 7 +intergenic FUNDC1(dist=37142),DUSP21(dist=263886) chrX 44439363 44439363 G T het . 9 +intergenic FUNDC1(dist=37164),DUSP21(dist=263864) chrX 44439385 44439385 G T het . 10 +intergenic FUNDC1(dist=44627),DUSP21(dist=256401) chrX 44446848 44446848 C T het . 2 +intergenic FUNDC1(dist=66579),DUSP21(dist=234449) chrX 44468800 44468800 T C het . 3 +intergenic FUNDC1(dist=66594),DUSP21(dist=234434) chrX 44468815 44468815 T C het . 3 +intergenic FUNDC1(dist=70802),DUSP21(dist=230226) chrX 44473023 44473023 A G het . 2 +intergenic FUNDC1(dist=80393),DUSP21(dist=220635) chrX 44482614 44482614 C T het . 2 +intergenic FUNDC1(dist=82135),DUSP21(dist=218893) chrX 44484356 44484356 G A het . 3 +intergenic FUNDC1(dist=90619),DUSP21(dist=210409) chrX 44492840 44492840 A G het . 22 +intergenic FUNDC1(dist=90681),DUSP21(dist=210347) chrX 44492902 44492902 C T het . 22 +intergenic FUNDC1(dist=90788),DUSP21(dist=210240) chrX 44493009 44493009 T C het . 24 +intergenic FUNDC1(dist=91389),DUSP21(dist=209639) chrX 44493610 44493610 C G het . 5 +intergenic FUNDC1(dist=91873),DUSP21(dist=209155) chrX 44494094 44494094 A C het . 16 +intergenic FUNDC1(dist=91932),DUSP21(dist=209096) chrX 44494153 44494153 C T het . 16 +intergenic FUNDC1(dist=93258),DUSP21(dist=207770) chrX 44495479 44495479 - A het . 3 +intergenic FUNDC1(dist=96924),DUSP21(dist=204104) chrX 44499145 44499145 C T het . 4 +intergenic FUNDC1(dist=106325),DUSP21(dist=194703) chrX 44508546 44508546 C A het . 17 +intergenic FUNDC1(dist=121154),DUSP21(dist=179874) chrX 44523375 44523375 G T het . 2 +intergenic FUNDC1(dist=130433),DUSP21(dist=170595) chrX 44532654 44532654 T A het . 1 +intergenic FUNDC1(dist=164956),DUSP21(dist=136072) chrX 44567177 44567177 A T het . 2 +intergenic FUNDC1(dist=198051),DUSP21(dist=102977) chrX 44600272 44600272 C T het . 7 +intergenic FUNDC1(dist=199103),DUSP21(dist=101925) chrX 44601324 44601324 A G het . 4 +intergenic FUNDC1(dist=263308),DUSP21(dist=37720) chrX 44665529 44665529 - TTG het . 3 +intronic KDM6A chrX 44833841 44833841 C A het . 11 +intronic KDM6A chrX 44918222 44918222 T - het . 22 +intronic KDM6A chrX 44935925 44935926 TT - het . 16 +intronic KDM6A chrX 44938317 44938317 A - het . 14 +exonic KDM6A chrX 44938563 44938563 G A het . 30 +intronic KDM6A chrX 44942339 44942339 T - het . 2 +intronic KDM6A chrX 44949952 44949952 T - het . 29 +intronic CXorf36 chrX 45038904 45038904 G A het . 3 +intronic CXorf36 chrX 45050973 45050973 C T het . 5 +exonic CXorf36 chrX 45051047 45051047 C G het . 16 +exonic CXorf36 chrX 45051111 45051111 C T het . 18 +intergenic CXorf36(dist=2595),LINC01204(dist=301892) chrX 45062741 45062741 A G het . 2 +intergenic CXorf36(dist=16212),LINC01204(dist=288275) chrX 45076358 45076358 T C het . 2 +intergenic CXorf36(dist=21139),LINC01204(dist=283348) chrX 45081285 45081285 A - het . 3 +intergenic CXorf36(dist=52072),LINC01204(dist=252415) chrX 45112218 45112218 A G het . 2 +intergenic LINC01204(dist=141371),LOC392452(dist=62722) chrX 45527855 45527855 G A het . 1 +intergenic LINC01204(dist=193211),LOC392452(dist=10882) chrX 45579695 45579695 C T het . 2 +intergenic LINC01204(dist=197002),LOC392452(dist=7091) chrX 45583486 45583486 T C het . 2 +intergenic MIR222(dist=65678),LINC02595(dist=35301) chrX 45672208 45672208 A T het . 2 +intergenic MIR222(dist=69797),LINC02595(dist=31182) chrX 45676327 45676327 T A het . 2 +intergenic MIR222(dist=70192),LINC02595(dist=30787) chrX 45676722 45676722 A C het . 2 +intergenic MIR222(dist=96356),LINC02595(dist=4623) chrX 45702886 45702886 G T het . 2 +intergenic LINC02595(dist=100268),LINC01186(dist=374171) chrX 45811188 45811188 G C het . 2 +intergenic LINC02595(dist=100415),LINC01186(dist=374024) chrX 45811335 45811335 G A het . 15 +intergenic LINC02595(dist=100667),LINC01186(dist=373772) chrX 45811587 45811587 T C het . 9 +intergenic LINC02595(dist=100783),LINC01186(dist=373656) chrX 45811703 45811703 T G het . 7 +intergenic LINC02595(dist=117291),LINC01186(dist=357148) chrX 45828211 45828211 G A het . 2 +intergenic LINC02595(dist=169603),LINC01186(dist=304836) chrX 45880523 45880523 G T het . 2 +intergenic LINC02595(dist=169792),LINC01186(dist=304647) chrX 45880712 45880712 A C het . 2 +intergenic LINC02595(dist=225652),LINC01186(dist=248787) chrX 45936572 45936572 - G het . 3 +intergenic LINC02595(dist=299558),LINC01186(dist=174881) chrX 46010478 46010478 G A het . 3 +intergenic LINC02595(dist=299653),LINC01186(dist=174786) chrX 46010573 46010573 C T het . 2 +intergenic LINC01186(dist=18952),KRBOX4(dist=100563) chrX 46206061 46206061 C T het . 2 +intergenic LINC01186(dist=35273),KRBOX4(dist=84242) chrX 46222382 46222382 A G het . 2 +intergenic LINC01186(dist=78184),KRBOX4(dist=41331) chrX 46265293 46265293 G A het . 3 +intergenic LINC01186(dist=92318),KRBOX4(dist=27197) chrX 46279427 46279427 G A het . 3 +intergenic LINC01186(dist=97617),KRBOX4(dist=21898) chrX 46284726 46284726 A G het . 2 +intergenic LINC01186(dist=112478),KRBOX4(dist=7037) chrX 46299587 46299587 C T het . 8 +intergenic LINC01186(dist=112530),KRBOX4(dist=6985) chrX 46299639 46299639 G A het . 7 +intronic KRBOX4 chrX 46314816 46314816 G A het . 9 +intronic KRBOX4 chrX 46314975 46314975 A T het . 7 +intronic KRBOX4 chrX 46316574 46316574 G C het . 9 +downstream ZNF674(dist=858) chrX 46356302 46356302 C G het . 2 +downstream ZNF674(dist=834) chrX 46356326 46356326 C G het . 3 +UTR3 ZNF674(NM_001146291:c.*467A>G,NM_001190417:c.*467A>G,NM_001039891:c.*467A>G) chrX 46358811 46358811 T C het . 4 +intronic ZNF674 chrX 46379050 46379050 A T het . 2 +intronic ZNF674 chrX 46387921 46387921 G A het . 9 +intronic ZNF674 chrX 46388442 46388442 G A het . 7 +UTR5 ZNF674(NM_001146291:c.-8A>G,NM_001190417:c.-8A>G,NM_001039891:c.-8A>G) chrX 46401530 46401530 T C het . 15 +intronic CHST7 chrX 46447972 46447972 T C het . 2 +intronic SLC9A7 chrX 46469333 46469333 C T het . 4 +exonic SLC9A7 chrX 46472826 46472826 G A het . 9 +intronic SLC9A7 chrX 46561201 46561201 C G het . 2 +intronic SLC9A7 chrX 46562584 46562584 C T het . 4 +intronic SLC9A7 chrX 46587059 46587059 A G het . 2 +intronic SLC9A7 chrX 46614881 46614881 G C het . 2 +exonic SLC9A7 chrX 46618321 46618321 C G het . 6 +intronic RP2 chrX 46739091 46739091 T - het . 26 +ncRNA_intronic LINC01545 chrX 46749841 46749841 A C het . 5 +intronic JADE3 chrX 46796855 46796855 G A het . 2 +intronic JADE3 chrX 46812259 46812259 A G het . 2 +intronic JADE3 chrX 46893249 46893249 G A het . 4 +intronic JADE3 chrX 46907921 46907921 A C het . 2 +intronic RGN chrX 46949403 46949403 C T het . 2 +intronic RGN chrX 46951004 46951004 G T het . 8 +intronic RGN chrX 46952219 46952219 A G het . 15 +intergenic RGN(dist=39328),NDUFB11(dist=9574) chrX 46992041 46992041 C A het . 2 +exonic RBM10 chrX 47040634 47040634 T C het . 11 +exonic RBM10 chrX 47044519 47044519 C A het . 39 +intronic UBA1 chrX 47057647 47057647 A G het . 12 +intronic UBA1 chrX 47060844 47060844 C G het . 29 +intronic UBA1 chrX 47061018 47061018 C G het . 20 +intronic UBA1 chrX 47072055 47072055 C A het . 8 +intronic CDK16 chrX 47086347 47086347 G A het . 7 +intergenic USP11(dist=25424),ZNF157(dist=96848) chrX 47133151 47133151 T C het . 10 +intergenic USP11(dist=93524),ZNF157(dist=28748) chrX 47201251 47201251 T - het . 2 +intergenic USP11(dist=116968),ZNF157(dist=5304) chrX 47224695 47224695 T G het . 2 +intronic ZNF157 chrX 47243813 47243813 G A het . 2 +intronic ZNF157 chrX 47251580 47251580 G A het . 3 +intronic ZNF41 chrX 47314781 47314781 C T het . 3 +intronic ZNF41 chrX 47340181 47340181 C T het . 2 +intergenic LINC01560(dist=17113),ARAF(dist=58760) chrX 47361739 47361739 - T het . 2 +intergenic LINC01560(dist=27624),ARAF(dist=48249) chrX 47372250 47372250 C T het . 3 +exonic TIMP1 chrX 47446041 47446041 G A het . 10 +intronic SYN1 chrX 47464292 47464292 C - het . 15 +exonic SYN1 chrX 47466361 47466361 A G het . 31 +downstream CFP(dist=133) chrX 47483479 47483479 G A het . 3 +intronic CFP chrX 47487912 47487912 - G het . 18 +intronic ELK1 chrX 47497594 47497594 C A het . 22 +exonic ELK1 chrX 47498483 47498483 G C het . 31 +exonic ELK1 chrX 47498714 47498714 G C het . 13 +intergenic UXT-AS1(dist=4701),CXXC1P1(dist=42379) chrX 47524211 47524211 C T het . 3 +intergenic CXXC1P1(dist=62019),ZNF81(dist=38255) chrX 47658046 47658046 C T het . 5 +intergenic CXXC1P1(dist=66945),ZNF81(dist=33329) chrX 47662972 47662972 T G het . 38 +intergenic CXXC1P1(dist=67173),ZNF81(dist=33101) chrX 47663200 47663200 G A het . 30 +intergenic CXXC1P1(dist=82521),ZNF81(dist=17753) chrX 47678548 47678548 C T het . 3 +intergenic CXXC1P1(dist=87337),ZNF81(dist=12937) chrX 47683364 47683364 G A het . 2 +upstream ZNF81(dist=754) chrX 47695547 47695547 T C het . 15 +upstream ZNF81(dist=558) chrX 47695743 47695743 T - het . 10 +intronic ZNF81 chrX 47700781 47700781 G A het . 17 +intronic ZNF81 chrX 47715545 47715545 A T het . 3 +intronic ZNF81 chrX 47755110 47755110 C T het . 9 +intronic ZNF81 chrX 47755164 47755164 C A het . 12 +intronic ZNF81 chrX 47758216 47758216 C T het . 2 +intronic ZNF81 chrX 47758234 47758234 A G het . 1 +intronic ZNF182 chrX 47848751 47848751 T C het . 2 +intronic ZNF182 chrX 47861829 47861829 T C het . 7 +intronic ZNF182 chrX 47861962 47861962 T C het . 30 +exonic ZNF630 chrX 47918205 47918205 G A het . 14 +ncRNA_intronic ZNF630-AS1 chrX 47920356 47920356 A G het . 7 +intronic ZNF630 chrX 47928505 47928505 C T het . 2 +intergenic ZNF630(dist=3959),SSX6P(dist=32383) chrX 47934984 47934984 T C het . 4 +ncRNA_intronic SSX6P chrX 47968351 47968351 - C het . 2 +downstream SSX6P(dist=239) chrX 47980307 47980307 - GTTT het . 6 +intergenic SPACA5B(dist=21119),SSX5(dist=32535) chrX 48013121 48013121 A G het . 4 +intergenic SPACA5B(dist=31439),SSX5(dist=22215) chrX 48023441 48023441 C T het . 3 +intronic SSX5 chrX 48046428 48046428 T A het . 4 +intronic SSX5 chrX 48047707 48047707 T C het . 2 +exonic SSX5 chrX 48049666 48049666 C T het . 17 +exonic SSX5 chrX 48054740 48054740 C G het . 12 +upstream SSX5(dist=695) chrX 48056894 48056894 A G het . 2 +intergenic SSX5(dist=2067),SSX1(dist=56486) chrX 48058266 48058266 C A het . 11 +intergenic SSX5(dist=12703),SSX1(dist=45850) chrX 48068902 48068902 T A het . 2 +intergenic SSX5(dist=14519),SSX1(dist=44031) chrX 48070718 48070721 TTTG - het . 3 +intergenic SSX5(dist=19306),SSX1(dist=39247) chrX 48075505 48075505 G A het . 9 +intergenic SSX5(dist=20617),SSX1(dist=37936) chrX 48076816 48076816 C T het . 9 +intergenic SSX5(dist=42110),SSX1(dist=16443) chrX 48098309 48098309 T C het . 2 +intergenic SSX5(dist=43233),SSX1(dist=15320) chrX 48099432 48099432 G A het . 2 +intergenic SSX5(dist=46798),SSX1(dist=11755) chrX 48102997 48102997 C G het . 2 +intronic SSX1 chrX 48116955 48116955 G C het . 4 +intronic SSX1 chrX 48117763 48117763 A C het . 2 +intronic SSX1 chrX 48120220 48120220 A - het . 2 +intronic SSX1 chrX 48122899 48122899 T - het . 2 +intronic SSX1 chrX 48123139 48123139 G A het . 9 +intergenic SSX1(dist=13895),SSX9P(dist=20211) chrX 48140774 48140774 G C het . 6 +intergenic SSX1(dist=29338),SSX9P(dist=4768) chrX 48156217 48156217 A G het . 4 +intergenic SSX1(dist=30407),SSX9P(dist=3699) chrX 48157286 48157286 C T het . 2 +intergenic SSX1(dist=32068),SSX9P(dist=2038) chrX 48158947 48158947 T C het . 2 +ncRNA_exonic SSX9P chrX 48161114 48161114 G A het . 25 +ncRNA_exonic SSX9P chrX 48161189 48161189 A G het . 10 +ncRNA_intronic SSX9P chrX 48161281 48161281 C G het . 14 +ncRNA_exonic SSX9P chrX 48163105 48163105 A G het . 17 +ncRNA_exonic SSX9P chrX 48163717 48163717 C T het . 5 +ncRNA_intronic SSX9P chrX 48163886 48163886 G A het . 17 +upstream SSX9P(dist=780) chrX 48166394 48166394 G C het . 2 +intergenic SSX9P(dist=2971),SSX3(dist=37278) chrX 48168585 48168585 C T het . 5 +intergenic SSX9P(dist=11423),SSX3(dist=28826) chrX 48177037 48177037 A C het . 1 +intergenic SSX9P(dist=14584),SSX3(dist=25665) chrX 48180198 48180198 A G het . 2 +intergenic SSX9P(dist=17962),SSX3(dist=22287) chrX 48183576 48183576 T C het . 4 +intergenic SSX9P(dist=33869),SSX3(dist=6380) chrX 48199483 48199483 G C het . 2 +intronic SSX3 chrX 48206911 48206911 G A het . 15 +intronic SSX3 chrX 48208935 48208935 T A het . 7 +intergenic SSX4B(dist=34684),SLC38A5(dist=10881) chrX 48306039 48306039 C T het . 11 +intergenic SSX4B(dist=35480),SLC38A5(dist=10085) chrX 48306835 48306835 - T het . 6 +intergenic SSX4B(dist=35795),SLC38A5(dist=9770) chrX 48307150 48307150 T - het . 7 +exonic EBP chrX 48382174 48382174 G T het . 11 +exonic TBC1D25 chrX 48418126 48418126 A G het . 11 +exonic TBC1D25 chrX 48418659 48418659 G A het . 14 +UTR5 RBM3(NM_006743:c.-778T>C) chrX 48432791 48432791 T C het . 2 +intronic RBM3 chrX 48433499 48433499 C G het . 4 +intronic RBM3 chrX 48433529 48433529 C T het . 6 +intronic RBM3 chrX 48435402 48435402 T C het . 5 +intronic RBM3 chrX 48435405 48435405 C T het . 5 +UTR3 RBM3(NM_006743:c.*99C>T) chrX 48435928 48435928 C T het . 10 +intronic WDR13 chrX 48459102 48459102 C G het . 3 +exonic WDR13 chrX 48460314 48460314 A G het . 5 +intronic WDR13 chrX 48460625 48460625 G C het . 3 +intergenic WDR13(dist=2458),WAS(dist=76146) chrX 48466040 48466040 G C het . 2 +intergenic WDR13(dist=16689),WAS(dist=61915) chrX 48480271 48480271 G C het . 2 +intergenic WDR13(dist=26479),WAS(dist=52120) chrX 48490061 48490066 CTGCTG - het . 3 +intronic WAS chrX 48544650 48544650 A G het . 8 +intronic GATA1 chrX 48649426 48649426 - G het . 8 +intronic GATA1 chrX 48649449 48649449 T G het . 9 +intronic GATA1 chrX 48649456 48649456 T G het . 8 +intergenic PCSK1N(dist=6052),TIMM17B(dist=50638) chrX 48700092 48700092 C A het . 5 +exonic TIMM17B chrX 48751471 48751471 A G het . 18 +intronic PQBP1 chrX 48759204 48759204 C T het . 23 +exonic PQBP1 chrX 48759668 48759669 AG - het . 20 +intronic SLC35A2 chrX 48760793 48760793 C T het . 9 +intronic PIM2 chrX 48775960 48775960 T G het . 4 +exonic GRIPAP1 chrX 48847497 48847497 T C het . 12 +intronic GRIPAP1 chrX 48848851 48848851 G A het . 2 +exonic TFE3 chrX 48888074 48888074 T C het . 7 +intronic TFE3 chrX 48898183 48898183 C G het . 6 +intronic WDR45 chrX 48933890 48933890 C G het . 2 +intronic WDR45 chrX 48935284 48935284 C A het . 18 +intronic WDR45 chrX 48954603 48954603 T - het . 2 +exonic MAGIX chrX 49021256 49021256 A G het . 26 +exonic MAGIX chrX 49021537 49021537 G C het . 5 +exonic MAGIX chrX 49022700 49022700 T C het . 4 +exonic SYP chrX 49047959 49047959 C T het . 21 +exonic CACNA1F chrX 49067914 49067914 C A het . 29 +intronic CACNA1F chrX 49074060 49074060 - G het . 5 +intronic CACNA1F chrX 49075777 49075777 C T het . 19 +exonic CACNA1F chrX 49087028 49087028 C A het . 13 +upstream CCDC22(dist=923) chrX 49091004 49091004 T - het . 3 +intronic CCDC22 chrX 49104815 49104815 T C het . 4 +intronic CCDC22 chrX 49105610 49105610 T C het . 15 +downstream PPP1R3F(dist=958) chrX 49145513 49145513 A G het . 3 +intronic GAGE10 chrX 49161197 49161198 AT - het . 13 +intronic GAGE1 chrX 49369711 49369711 A G het . 8 +intronic GAGE1 chrX 49370511 49370511 - AAT het . 4 +UTR3 GAGE1(NM_001040663:c.*160C>A) chrX 49370778 49370778 C A het . 6 +UTR3 GAGE1(NM_001040663:c.*169A>T) chrX 49370787 49370787 A T het . 6 +intergenic GAGE1(dist=24488),PAGE1(dist=54427) chrX 49397627 49397627 T C het . 9 +intergenic GAGE1(dist=24815),PAGE1(dist=54100) chrX 49397954 49397954 A G het . 11 +intergenic GAGE1(dist=26782),PAGE1(dist=52133) chrX 49399921 49399921 A T het . 2 +intergenic GAGE1(dist=45289),PAGE1(dist=33626) chrX 49418428 49418428 G T het . 2 +intergenic GAGE1(dist=56659),PAGE1(dist=22256) chrX 49429798 49429798 C A het . 25 +intergenic PAGE4(dist=32375),USP27X-AS1(dist=10085) chrX 49631242 49631242 - T het . 2 +ncRNA_intronic USP27X-AS1 chrX 49643393 49643393 C G het . 3 +intergenic USP27X(dist=10758),CLCN5(dist=29299) chrX 49657926 49657926 - G het . 2 +intronic CLCN5 chrX 49749263 49749263 A G het . 4 +ncRNA_exonic MIR532 chrX 49767832 49767832 A G het . 11 +ncRNA_exonic MIR532 chrX 49767835 49767835 A G het . 11 +intronic CLCN5 chrX 49767863 49767863 C A het . 9 +intronic CLCN5 chrX 49767904 49767904 A G het . 3 +intronic CLCN5 chrX 49774447 49774447 C T het . 9 +intergenic CLCN5(dist=48240),AKAP4(dist=43279) chrX 49912132 49912132 T - het . 2 +intergenic AKAP4(dist=6336),CCNB3(dist=55540) chrX 49972000 49972000 A - het . 2 +exonic CCNB3 chrX 50052183 50052183 C A het . 19 +intronic CCNB3 chrX 50056814 50056814 A G het . 10 +intronic CCNB3 chrX 50057963 50057963 A - het . 2 +exonic CCNB3 chrX 50094269 50094269 C A het . 13 +exonic DGKK chrX 50119085 50119085 C T het . 19 +exonic DGKK chrX 50119882 50119882 C A het . 14 +exonic DGKK chrX 50121146 50121146 - G het . 12 +intronic DGKK chrX 50122932 50122932 A T het . 10 +exonic DGKK chrX 50129369 50129369 A G het . 16 +intronic DGKK chrX 50130544 50130544 G A het . 11 +intronic DGKK chrX 50130717 50130717 T C het . 8 +intronic DGKK chrX 50134383 50134383 G A het . 5 +intronic DGKK chrX 50135327 50135327 C A het . 12 +intronic DGKK chrX 50143965 50143965 G C het . 8 +exonic DGKK chrX 50146570 50146570 C T het . 19 +intronic DGKK chrX 50194530 50194530 T C het . 2 +downstream SHROOM4(dist=188) chrX 50334455 50334455 C T het . 5 +UTR3 SHROOM4(NM_020717:c.*5000_*4997delGAAA) chrX 50334695 50334698 TTTC - het . 7 +UTR3 SHROOM4(NM_020717:c.*4915A>G) chrX 50334780 50334780 T C het . 12 +UTR3 SHROOM4(NM_020717:c.*4687A>G) chrX 50335008 50335008 T C het . 34 +intronic SHROOM4 chrX 50341598 50341598 G A het . 13 +intronic SHROOM4 chrX 50341675 50341675 G C het . 4 +exonic SHROOM4 chrX 50350674 50350674 T C het . 11 +intronic SHROOM4 chrX 50351377 50351377 A T het . 3 +intronic SHROOM4 chrX 50355075 50355075 C T het . 2 +exonic SHROOM4 chrX 50377343 50377343 C A het . 26 +intronic SHROOM4 chrX 50380717 50380717 G A het . 2 +upstream SHROOM4(dist=105) chrX 50557149 50557149 C T het . 6 +intergenic SHROOM4(dist=18393),BMP15(dist=78297) chrX 50575437 50575438 TT - het . 5 +intergenic SHROOM4(dist=22483),BMP15(dist=74208) chrX 50579527 50579527 - T het . 2 +intergenic SHROOM4(dist=44392),BMP15(dist=52299) chrX 50601436 50601436 T C het . 2 +intergenic SHROOM4(dist=77075),BMP15(dist=19616) chrX 50634119 50634119 C G het . 5 +intronic BMP15 chrX 50654798 50654798 T C het . 3 +intergenic BMP15(dist=14405),LINC01284(dist=164636) chrX 50674046 50674046 T C het . 8 +intergenic BMP15(dist=109690),LINC01284(dist=69351) chrX 50769331 50769331 C T het . 2 +intergenic BMP15(dist=110027),LINC01284(dist=69014) chrX 50769668 50769668 T - het . 2 +intergenic BMP15(dist=162198),LINC01284(dist=16843) chrX 50821839 50821839 C T het . 2 +intergenic BMP15(dist=172180),LINC01284(dist=6861) chrX 50831821 50831821 G T het . 13 +ncRNA_intronic LINC01284 chrX 50847832 50847832 T C het . 1 +intergenic LINC01284(dist=51618),NUDT10(dist=109212) chrX 50965871 50965871 G A het . 2 +exonic NUDT10 chrX 51075841 51075841 A G het . 10 +intergenic CXorf67(dist=50856),NUDT11(dist=30318) chrX 51202545 51202545 A G het . 2 +intergenic LINC01496(dist=21792),CENPVL3(dist=87789) chrX 51272085 51272085 G A het . 2 +intergenic LINC01496(dist=23930),CENPVL3(dist=85651) chrX 51274223 51274223 A G het . 2 +intergenic LINC01496(dist=104929),CENPVL3(dist=4652) chrX 51355222 51355222 - A het . 2 +upstream CENPVL3(dist=150) chrX 51361920 51361920 C T het . 2 +intergenic CENPVL3(dist=15986),CENPVL1(dist=46390) chrX 51377756 51377756 G A het . 2 +intergenic CENPVL3(dist=42671),CENPVL1(dist=19705) chrX 51404441 51404441 A G het . 2 +UTR5 GSPT2(NM_018094:c.-64C>T) chrX 51486659 51486659 C T het . 5 +intergenic GSPT2(dist=37504),MAGED1(dist=19325) chrX 51526830 51526830 A G het . 2 +intronic MAGED1 chrX 51552884 51552884 G A het . 3 +intronic MAGED1 chrX 51563336 51563336 G A het . 2 +intronic MAGED1 chrX 51565634 51565634 G A het . 2 +intronic MAGED1 chrX 51632257 51632257 C T het . 2 +intergenic MAGED1(dist=21243),MAGED4B(dist=138230) chrX 51666693 51666693 C T het . 6 +intergenic MAGED1(dist=137639),MAGED4B(dist=21834) chrX 51783089 51783089 C G het . 2 +intergenic MAGED4B(dist=12937),MAGED4B(dist=102614) chrX 51825305 51825305 T C het . 2 +intergenic MAGED4(dist=55395),MIR8088(dist=88938) chrX 51990761 51990761 - T het . 2 +intergenic MAGED4(dist=105707),MIR8088(dist=38626) chrX 52041073 52041073 T A het . 2 +intergenic MAGED4(dist=126130),MIR8088(dist=18203) chrX 52061496 52061496 T - het . 2 +intergenic XAGE1B(dist=86344),SSX8P(dist=19444) chrX 52632541 52632541 T C het . 2 +intergenic XAGE1B(dist=95840),SSX8P(dist=9948) chrX 52642037 52642037 T C het . 9 +ncRNA_intronic SSX8P chrX 52657381 52657381 C T het . 15 +ncRNA_intronic SSX8P chrX 52661031 52661031 C T het . 7 +ncRNA_exonic SSX8P chrX 52662529 52662529 A G het . 2 +upstream SSX7(dist=550) chrX 52684500 52684500 G A het . 3 +upstream SSX7(dist=644) chrX 52684594 52684594 T C het . 2 +intergenic SSX2(dist=28092),SPANXN5(dist=6477) chrX 52818709 52818709 C A het . 14 +intergenic SSX2(dist=28137),SPANXN5(dist=6432) chrX 52818754 52818754 A T het . 8 +UTR3 SPANXN5(NM_001009616:c.*86C>A) chrX 52825442 52825442 G T het . 1 +UTR3 SPANXN5(NM_001009616:c.*57T>C) chrX 52825471 52825471 A G het . 8 +exonic SPANXN5 chrX 52825546 52825546 C G het . 15 +intergenic XAGE5(dist=12079),XAGE3(dist=32157) chrX 52859401 52859401 A C het . 2 +intergenic XAGE5(dist=40369),XAGE3(dist=3867) chrX 52887691 52887691 T C het . 3 +intergenic XAGE5(dist=40381),XAGE3(dist=3852) chrX 52887703 52887706 ATAA - het . 3 +intergenic XAGE5(dist=40394),XAGE3(dist=3842) chrX 52887716 52887716 A G het . 3 +intergenic XAGE5(dist=40427),XAGE3(dist=3809) chrX 52887749 52887749 A T het . 4 +intergenic XAGE5(dist=40435),XAGE3(dist=3800) chrX 52887757 52887758 AG GT het . 3 +downstream XAGE3(dist=846) chrX 52890712 52890712 A G het . 1 +downstream XAGE3(dist=840) chrX 52890718 52890718 C G het . 1 +downstream XAGE3(dist=819) chrX 52890739 52890739 G A het . 3 +downstream XAGE3(dist=811) chrX 52890747 52890747 T A het . 3 +downstream XAGE3(dist=809) chrX 52890749 52890749 A G het . 3 +downstream XAGE3(dist=797) chrX 52890761 52890761 G A het . 4 +downstream XAGE3(dist=790) chrX 52890766 52890768 CAT - het . 4 +downstream XAGE3(dist=741) chrX 52890817 52890817 A G het . 1 +downstream XAGE3(dist=66) chrX 52891492 52891492 T C het . 19 +downstream XAGE3(dist=45) chrX 52891512 52891513 AC TT het . 24 +downstream XAGE3(dist=35) chrX 52891523 52891523 G T het . 24 +downstream XAGE3(dist=16) chrX 52891542 52891542 A G het . 22 +UTR3 XAGE3(NM_130776:c.*82T>C,NM_133179:c.*82T>C) chrX 52891565 52891565 A G het . 18 +UTR3 XAGE3(NM_130776:c.*63G>T,NM_133179:c.*63G>T) chrX 52891584 52891584 C A het . 14 +UTR3 XAGE3(NM_130776:c.*27delA,NM_133179:c.*27delA) chrX 52891620 52891620 T - het . 21 +UTR3 XAGE3(NM_130776:c.*2T>C,NM_133179:c.*2T>C) chrX 52891645 52891645 A G het . 33 +exonic XAGE3 chrX 52891653 52891653 C T het . 33 +intronic XAGE3 chrX 52891732 52891732 G A het . 14 +intronic XAGE3 chrX 52891736 52891736 G T het . 12 +intronic XAGE3 chrX 52891738 52891739 CA TG het . 12 +intronic FAM156A chrX 53014150 53014150 C T het . 2 +intronic FAM156A chrX 53014744 53014744 A - het . 2 +intronic FAM156A chrX 53019975 53019976 AA - het . 10 +intronic FAM156A chrX 53022887 53022887 C T het . 2 +intergenic FAM156A(dist=28603),GPR173(dist=25252) chrX 53053254 53053254 C T het . 2 +ncRNA_intronic KANTR chrX 53127803 53127805 TTG - het . 3 +ncRNA_intronic KANTR chrX 53129884 53129884 T G het . 2 +ncRNA_intronic KANTR chrX 53130157 53130157 T G het . 2 +ncRNA_intronic KANTR chrX 53144309 53144309 G A het . 2 +ncRNA_intronic KANTR chrX 53170885 53170885 T - het . 5 +intergenic KANTR(dist=18552),KDM5C(dist=9717) chrX 53195742 53195742 G T het . 3 +intronic KDM5C chrX 53213697 53213697 C T het . 2 +intronic KDM5C chrX 53225751 53225751 A G het . 2 +intronic KDM5C chrX 53226311 53226311 T C het . 9 +intronic KDM5C chrX 53228148 53228148 C A het . 29 +intronic KDM5C chrX 53236597 53236597 T C het . 2 +intronic KDM5C chrX 53247962 53247962 A G het . 5 +exonic IQSEC2 chrX 53264131 53264133 TGG - het . 14 +intronic IQSEC2 chrX 53265835 53265835 T C het . 2 +exonic IQSEC2 chrX 53279571 53279571 C A het . 14 +intronic IQSEC2 chrX 53284931 53284931 G A het . 17 +intronic SMC1A chrX 53436232 53436232 G T het . 24 +intronic SMC1A chrX 53449336 53449336 - G het . 4 +UTR5 SMC1A(NM_006306:c.-19C>T,NM_001281463:c.-681C>T) chrX 53449568 53449568 G A het . 14 +exonic RIBC1 chrX 53457622 53457622 T C het . 21 +intronic HSD17B10 chrX 53459146 53459146 C A het . 20 +upstream HSD17B10(dist=36) chrX 53461359 53461359 G C het . 13 +intergenic HSD17B10(dist=26672),HUWE1(dist=71062) chrX 53487995 53487995 T - het . 10 +intergenic HSD17B10(dist=69370),HUWE1(dist=28364) chrX 53530693 53530693 C G het . 2 +intronic HUWE1 chrX 53562653 53562653 G C het . 1 +exonic HUWE1 chrX 53563447 53563447 A G het . 26 +exonic HUWE1 chrX 53563589 53563589 A G het . 11 +exonic HUWE1 chrX 53587328 53587328 C A het . 22 +intronic HUWE1 chrX 53601990 53601990 A C het . 4 +intronic HUWE1 chrX 53602442 53602442 T G het . 2 +intronic HUWE1 chrX 53611360 53611360 T G het . 19 +intronic HUWE1 chrX 53629204 53629204 T C het . 2 +exonic HUWE1 chrX 53641647 53641647 T C het . 40 +intronic HUWE1 chrX 53654501 53654502 TA - het . 10 +intronic HUWE1 chrX 53659047 53659047 C T het . 10 +intronic HUWE1 chrX 53675478 53675478 A C het . 5 +intronic HUWE1 chrX 53675488 53675488 A C het . 6 +intergenic HUWE1(dist=18173),PHF8(dist=231266) chrX 53731847 53731847 A G het . 2 +intergenic HUWE1(dist=44086),PHF8(dist=205353) chrX 53757760 53757760 C T het . 2 +intergenic HUWE1(dist=50201),PHF8(dist=199238) chrX 53763875 53763875 G A het . 2 +intergenic HUWE1(dist=52494),PHF8(dist=196945) chrX 53766168 53766168 C T het . 2 +intergenic HUWE1(dist=57982),PHF8(dist=191457) chrX 53771656 53771656 G A het . 2 +intergenic HUWE1(dist=69952),PHF8(dist=179487) chrX 53783626 53783626 G A het . 1 +intergenic HUWE1(dist=70030),PHF8(dist=179409) chrX 53783704 53783704 T A het . 2 +intergenic HUWE1(dist=139172),PHF8(dist=110266) chrX 53852846 53852847 AA - het . 18 +intergenic HUWE1(dist=212549),PHF8(dist=36890) chrX 53926223 53926223 A C het . 3 +UTR3 PHF8(NM_015107:c.*1003A>G,NM_001184896:c.*1003A>G) chrX 53964588 53964588 T C het . 5 +intronic PHF8 chrX 53966984 53966984 G C het . 24 +intronic PHF8 chrX 53973349 53973349 A T het . 2 +intronic PHF8 chrX 53981076 53981077 AT - het . 3 +intronic PHF8 chrX 53989230 53989230 C T het . 15 +intronic PHF8 chrX 54019998 54019998 A - het . 13 +intronic PHF8 chrX 54028839 54028839 T C het . 11 +intronic FAM120C chrX 54107692 54107692 T C het . 4 +intronic FAM120C chrX 54117740 54117740 C A het . 11 +intronic FAM120C chrX 54126004 54126004 G A het . 2 +intronic FAM120C chrX 54128456 54128456 A C het . 3 +intronic FAM120C chrX 54161859 54161859 C T het . 5 +exonic FAM120C chrX 54185852 54185852 C A het . 22 +intronic FAM120C chrX 54198047 54198047 T G het . 2 +exonic FAM120C chrX 54209387 54209387 A G het . 19 +intronic WNK3 chrX 54278125 54278125 C A het . 14 +intronic WNK3 chrX 54280277 54280277 A T het . 3 +intronic WNK3 chrX 54362054 54362054 - A het . 2 +exonic ITIH6 chrX 54784791 54784791 C A het . 27 +intergenic MAGED2(dist=22404),TRO(dist=82144) chrX 54864852 54864852 C T het . 2 +intergenic MAGED2(dist=32294),TRO(dist=72254) chrX 54874742 54874742 A C het . 2 +intergenic MAGED2(dist=34313),TRO(dist=70235) chrX 54876761 54876761 G A het . 2 +intergenic MAGED2(dist=36560),TRO(dist=67988) chrX 54879008 54879008 A T het . 2 +intergenic MAGED2(dist=37197),TRO(dist=67351) chrX 54879645 54879645 T C het . 2 +intergenic MAGED2(dist=43889),TRO(dist=60659) chrX 54886337 54886337 C T het . 2 +intergenic MAGED2(dist=54359),TRO(dist=50189) chrX 54896807 54896807 A T het . 2 +intergenic MAGED2(dist=66753),TRO(dist=37795) chrX 54909201 54909201 A T het . 2 +intergenic MAGED2(dist=66774),TRO(dist=37774) chrX 54909222 54909222 C G het . 2 +intergenic MAGED2(dist=73493),TRO(dist=31055) chrX 54915941 54915941 C T het . 4 +intergenic MAGED2(dist=74882),TRO(dist=29666) chrX 54917330 54917330 T A het . 3 +intergenic MAGED2(dist=77615),TRO(dist=26933) chrX 54920063 54920063 G T het . 3 +intergenic MAGED2(dist=80443),TRO(dist=24105) chrX 54922891 54922891 G C het . 2 +exonic TRO chrX 54949630 54949630 T G het . 22 +intronic TRO chrX 54953647 54953647 G A het . 2 +exonic TRO chrX 54956502 54956502 C T het . 15 +intergenic ALAS2(dist=35769),PAGE2B(dist=8223) chrX 55093266 55093266 G A het . 2 +exonic PAGE2 chrX 55116466 55116466 C G het . 25 +intergenic SNORA109(dist=9379),PAGE5(dist=27360) chrX 55219419 55219419 C T het . 2 +intergenic SNORA109(dist=18552),PAGE5(dist=18187) chrX 55228592 55228592 C G het . 2 +intergenic SNORA109(dist=18593),PAGE5(dist=18146) chrX 55228633 55228633 G T het . 2 +intergenic SNORA109(dist=20248),PAGE5(dist=16491) chrX 55230288 55230288 T C het . 2 +intergenic SNORA109(dist=34156),PAGE5(dist=2583) chrX 55244196 55244196 G T het . 3 +UTR5 PAGE5(NM_130467:c.-68C>T) chrX 55246965 55246965 C T het . 9 +UTR5 PAGE5(NM_130467:c.-3C>G) chrX 55247030 55247030 C G het . 10 +intronic PAGE5 chrX 55247997 55247997 A T het . 8 +intronic PAGE5 chrX 55248320 55248320 G A het . 18 +intergenic PAGE5(dist=8723),PAGE3(dist=25585) chrX 55259264 55259264 A G het . 4 +intergenic PAGE5(dist=14056),PAGE3(dist=20252) chrX 55264597 55264597 A G het . 2 +intergenic PAGE5(dist=15413),PAGE3(dist=18895) chrX 55265954 55265954 G C het . 2 +intergenic PAGE5(dist=30070),PAGE3(dist=4238) chrX 55280611 55280611 G A het . 3 +intronic PAGE3 chrX 55286887 55286887 G T het . 13 +exonic PAGE3 chrX 55287031 55287031 T G het . 15 +exonic PAGE3 chrX 55289774 55289774 T C het . 13 +ncRNA_intronic LOC100421746 chrX 55308481 55308481 A G het . 2 +ncRNA_intronic LOC100421746 chrX 55310295 55310295 A C het . 2 +intergenic LOC100421746(dist=5681),MIR4536-2(dist=157028) chrX 55320900 55320900 G A het . 1 +intergenic LOC100421746(dist=6233),MIR4536-2(dist=156476) chrX 55321452 55321452 C T het . 3 +intergenic LOC100421746(dist=38200),MIR4536-2(dist=124509) chrX 55353419 55353419 A G het . 3 +intergenic LOC100421746(dist=84016),MIR4536-2(dist=78693) chrX 55399235 55399235 T C het . 3 +intergenic LOC100421746(dist=98046),MIR4536-2(dist=64663) chrX 55413265 55413265 C T het . 3 +intergenic LOC100421746(dist=156499),MIR4536-2(dist=6210) chrX 55471718 55471718 G A het . 2 +exonic MAGEH1 chrX 55479299 55479299 G A het . 19 +exonic USP51 chrX 55514818 55514818 C T het . 9 +intergenic USP51(dist=44524),FOXR2(dist=89678) chrX 55560155 55560155 G A het . 2 +intergenic USP51(dist=51802),FOXR2(dist=82400) chrX 55567433 55567433 A G het . 2 +intergenic USP51(dist=85113),FOXR2(dist=49089) chrX 55600744 55600744 T C het . 2 +exonic FOXR2 chrX 55651001 55651001 T C het . 13 +intergenic FOXR2(dist=30237),RRAGB(dist=61252) chrX 55682858 55682858 T C het . 9 +intergenic FOXR2(dist=73418),RRAGB(dist=18071) chrX 55726039 55726039 T C het . 2 +intronic RRAGB chrX 55748820 55748820 A G het . 7 +intronic RRAGB chrX 55757744 55757744 T G het . 13 +intronic RRAGB chrX 55758238 55758238 T A het . 3 +intergenic RRAGB(dist=63470),KLF8(dist=85879) chrX 55848677 55848677 T C het . 3 +intergenic RRAGB(dist=63571),KLF8(dist=85778) chrX 55848778 55848778 A C het . 1 +intergenic RRAGB(dist=82012),KLF8(dist=67337) chrX 55867219 55867219 A G het . 2 +intergenic RRAGB(dist=86963),KLF8(dist=62386) chrX 55872170 55872170 C T het . 4 +intergenic RRAGB(dist=134548),KLF8(dist=14801) chrX 55919755 55919755 T - het . 2 +intergenic RRAGB(dist=147362),KLF8(dist=1987) chrX 55932569 55932569 C A het . 2 +intronic KLF8 chrX 55988801 55988801 G A het . 2 +intronic KLF8 chrX 56012556 56012556 C T het . 2 +intronic KLF8 chrX 56172376 56172376 C T het . 2 +intronic KLF8 chrX 56196966 56196966 C A het . 3 +intronic KLF8 chrX 56236796 56236796 T A het . 2 +intronic KLF8 chrX 56295245 56295245 T C het . 3 +intronic KLF8 chrX 56296488 56296488 G C het . 4 +intergenic KLF8(dist=151037),UBQLN2(dist=121026) chrX 56469000 56469000 T C het . 3 +intergenic KLF8(dist=171206),UBQLN2(dist=100857) chrX 56489169 56489169 - TTTTTCT het . 5 +intergenic KLF8(dist=171265),UBQLN2(dist=100798) chrX 56489228 56489228 T C het . 5 +intergenic KLF8(dist=171311),UBQLN2(dist=100752) chrX 56489274 56489274 T C het . 5 +intergenic KLF8(dist=173230),UBQLN2(dist=98833) chrX 56491193 56491193 G A het . 2 +intergenic KLF8(dist=176049),UBQLN2(dist=96014) chrX 56494012 56494012 T C het . 2 +intergenic KLF8(dist=204577),UBQLN2(dist=67486) chrX 56522540 56522540 G T het . 2 +intergenic KLF8(dist=250901),UBQLN2(dist=21162) chrX 56568864 56568864 - AAG het . 2 +intergenic KLF8(dist=266627),UBQLN2(dist=5436) chrX 56584590 56584590 G A het . 2 +intergenic UBQLN2(dist=34301),NBDY(dist=127908) chrX 56627744 56627744 A - het . 2 +intergenic UBQLN2(dist=34409),NBDY(dist=127800) chrX 56627852 56627852 C G het . 4 +intergenic UBQLN2(dist=60787),NBDY(dist=101422) chrX 56654230 56654230 A C het . 3 +intronic NBDY chrX 56771864 56771864 A G het . 2 +intronic NBDY chrX 56786834 56786835 TG - het . 4 +intronic NBDY chrX 56791711 56791711 C T het . 2 +intronic NBDY chrX 56820882 56820882 T C het . 2 +intronic NBDY chrX 56820897 56820897 T C het . 2 +intronic NBDY chrX 56823621 56823621 C A het . 5 +intronic NBDY chrX 56841973 56841973 A C het . 2 +intergenic NBDY(dist=12250),SPIN3(dist=159403) chrX 56857861 56857861 C G het . 2 +intergenic NBDY(dist=41174),SPIN3(dist=130479) chrX 56886785 56886785 T C het . 3 +intergenic NBDY(dist=42067),SPIN3(dist=129586) chrX 56887678 56887678 G C het . 2 +intergenic NBDY(dist=43344),SPIN3(dist=128309) chrX 56888955 56888955 A G het . 3 +intergenic NBDY(dist=108809),SPIN3(dist=62844) chrX 56954420 56954420 T C het . 2 +intergenic NBDY(dist=138348),SPIN3(dist=33305) chrX 56983959 56983959 A C het . 2 +intergenic NBDY(dist=165310),SPIN3(dist=6343) chrX 57010921 57010921 A - het . 23 +intergenic NBDY(dist=167957),SPIN3(dist=3693) chrX 57013568 57013571 AAAC - het . 2 +intergenic SPIN3(dist=114961),SPIN2B(dist=9166) chrX 57136949 57136949 T G het . 2 +intergenic SPIN3(dist=114970),SPIN2B(dist=9157) chrX 57136958 57136958 C T het . 1 +exonic FAAH2 chrX 57313357 57313357 T C het . 9 +intronic FAAH2 chrX 57318907 57318907 T A het . 7 +intronic FAAH2 chrX 57336824 57336824 T C het . 4 +intronic FAAH2 chrX 57357003 57357003 A G het . 2 +intronic FAAH2 chrX 57360964 57360964 T G het . 2 +intronic FAAH2 chrX 57382698 57382698 A G het . 2 +intronic FAAH2 chrX 57394102 57394102 T C het . 2 +exonic FAAH2 chrX 57405163 57405163 T C het . 25 +intronic FAAH2 chrX 57418768 57418768 G C het . 5 +intronic FAAH2 chrX 57419199 57419199 C T het . 12 +intronic FAAH2 chrX 57419678 57419678 C A het . 15 +intronic FAAH2 chrX 57419772 57419772 C T het . 15 +intronic FAAH2 chrX 57419809 57419809 G A het . 13 +intronic FAAH2 chrX 57419957 57419957 A T het . 21 +intronic FAAH2 chrX 57420562 57420562 A G het . 29 +intronic FAAH2 chrX 57421092 57421092 C - het . 27 +intronic FAAH2 chrX 57421200 57421200 G A het . 32 +intronic FAAH2 chrX 57421282 57421282 G T het . 31 +intronic FAAH2 chrX 57421308 57421308 G A het . 26 +intronic FAAH2 chrX 57421541 57421541 A G het . 7 +intronic FAAH2 chrX 57432040 57432040 G T het . 2 +intronic FAAH2 chrX 57454504 57454504 T A het . 2 +intronic FAAH2 chrX 57461347 57461347 C G het . 4 +intronic FAAH2 chrX 57474943 57474943 A T het . 15 +exonic FAAH2 chrX 57475132 57475132 T C het . 13 +intronic FAAH2 chrX 57475253 57475253 A C het . 4 +intronic FAAH2 chrX 57486254 57486254 T C het . 3 +intronic FAAH2 chrX 57514902 57514902 T C het . 3 +intronic FAAH2 chrX 57515140 57515140 T G het . 9 +intergenic FAAH2(dist=5016),ZXDB(dist=97624) chrX 57520645 57520645 - AATAA het . 2 +intergenic FAAH2(dist=41584),ZXDB(dist=61056) chrX 57557213 57557213 T C het . 2 +intergenic FAAH2(dist=52932),ZXDB(dist=49708) chrX 57568561 57568561 A G het . 2 +exonic ZXDB chrX 57618738 57618738 G T het . 14 +UTR3 NLRP2B(NM_001319967:c.*779C>A) chrX 57705777 57705777 G T het . 10 +intergenic NLRP2B(dist=3703),ZXDA(dist=221468) chrX 57710396 57710396 G A het . 3 +intergenic NLRP2B(dist=175757),ZXDA(dist=49414) chrX 57882450 57882450 - A het . 2 +intergenic NLRP2B(dist=178189),ZXDA(dist=46982) chrX 57884882 57884882 - TTC het . 2 +intergenic ZXDA(dist=186190),NONE(dist=NONE) chrX 58123257 58123257 A C het . 2 +intergenic ZXDA(dist=496562),NONE(dist=NONE) chrX 58433629 58433629 C T het . 2 +intergenic ZXDA(dist=628828),NONE(dist=NONE) chrX 58565895 58565895 A C het . 3 +intergenic NONE(dist=NONE),SPIN4(dist=875313) chrX 61691794 61691794 T C het . 3 +intergenic NONE(dist=NONE),SPIN4(dist=844929) chrX 61722177 61722178 TT CA het . 3 +intergenic NONE(dist=NONE),SPIN4(dist=844926) chrX 61722181 61722181 G A het . 3 +intergenic NONE(dist=NONE),SPIN4(dist=844918) chrX 61722189 61722189 A C het . 3 +intergenic NONE(dist=NONE),SPIN4(dist=844915) chrX 61722192 61722192 A G het . 3 +intergenic NONE(dist=NONE),SPIN4(dist=844909) chrX 61722198 61722198 A G het . 3 +intergenic NONE(dist=NONE),SPIN4(dist=844904) chrX 61722203 61722203 G A het . 3 +intergenic NONE(dist=NONE),SPIN4(dist=840543) chrX 61726564 61726564 T G het . 3 +intergenic NONE(dist=NONE),SPIN4(dist=836213) chrX 61730894 61730894 T G het . 2 +intergenic NONE(dist=NONE),SPIN4(dist=832989) chrX 61734118 61734118 C A het . 6 +intergenic NONE(dist=NONE),SPIN4(dist=832956) chrX 61734151 61734151 C T het . 8 +intergenic NONE(dist=NONE),SPIN4(dist=832951) chrX 61734156 61734156 G T het . 8 +intergenic NONE(dist=NONE),SPIN4(dist=832943) chrX 61734164 61734164 T G het . 8 +intergenic NONE(dist=NONE),SPIN4(dist=832935) chrX 61734172 61734172 T C het . 7 +intergenic NONE(dist=NONE),SPIN4(dist=832920) chrX 61734187 61734187 C - het . 3 +intergenic NONE(dist=NONE),SPIN4(dist=797634) chrX 61769473 61769473 A G het . 1 +intergenic NONE(dist=NONE),SPIN4(dist=797616) chrX 61769491 61769491 C G het . 2 +intergenic NONE(dist=NONE),SPIN4(dist=605157) chrX 61961950 61961950 A T het . 16 +intergenic NONE(dist=NONE),SPIN4(dist=567928) chrX 61999179 61999179 - A het . 10 +intergenic NONE(dist=NONE),SPIN4(dist=567711) chrX 61999396 61999396 A C het . 18 +ncRNA_intronic LINC01278 chrX 62659672 62659672 A G het . 2 +intergenic MIR1468(dist=108000),AMER1(dist=291029) chrX 63113967 63113968 AA - het . 1 +intronic MTMR8 chrX 63516107 63516107 C A het . 3 +intergenic MTMR8(dist=200060),ZC4H2(dist=320289) chrX 63815393 63815393 T - het . 5 +intergenic MTMR8(dist=302190),ZC4H2(dist=218159) chrX 63917523 63917523 C T het . 2 +intergenic ZC4H2(dist=281919),ZC3H12B(dist=172072) chrX 64536543 64536543 T G het . 1 +intergenic ZC4H2(dist=293701),ZC3H12B(dist=160290) chrX 64548325 64548325 C T het . 11 +intergenic ZC4H2(dist=317724),ZC3H12B(dist=136267) chrX 64572348 64572348 A - het . 2 +intergenic ZC4H2(dist=412621),ZC3H12B(dist=41370) chrX 64667245 64667245 C T het . 3 +exonic MSN chrX 64956699 64956699 G A het . 14 +intergenic VSIG4(dist=28904),HEPH(dist=93520) chrX 65288871 65288871 T A het . 2 +intergenic VSIG4(dist=32355),HEPH(dist=90069) chrX 65292322 65292322 - TGTTTGTT het . 4 +intergenic VSIG4(dist=32395),HEPH(dist=90029) chrX 65292362 65292362 - TT het . 3 +intergenic VSIG4(dist=45112),HEPH(dist=77312) chrX 65305079 65305079 C T het . 2 +intergenic VSIG4(dist=57769),HEPH(dist=64655) chrX 65317736 65317736 G A het . 2 +intergenic VSIG4(dist=60833),HEPH(dist=61591) chrX 65320800 65320800 T G het . 2 +intergenic VSIG4(dist=61318),HEPH(dist=61106) chrX 65321285 65321285 T C het . 2 +intergenic VSIG4(dist=89823),HEPH(dist=32601) chrX 65349790 65349790 T C het . 2 +intergenic VSIG4(dist=91431),HEPH(dist=30993) chrX 65351398 65351398 G A het . 2 +exonic HEPH chrX 65382685 65382685 T C het . 18 +intronic HEPH chrX 65393658 65393658 A G het . 4 +intronic HEPH chrX 65420609 65420609 A G het . 2 +intronic HEPH chrX 65475235 65475235 A - het . 3 +intronic HEPH chrX 65486172 65486172 C T het . 3 +intergenic HEPH(dist=5176),EDA2R(dist=323076) chrX 65492406 65492406 A - het . 2 +intergenic HEPH(dist=14089),EDA2R(dist=314163) chrX 65501319 65501319 - GAA het . 2 +intergenic HEPH(dist=19689),EDA2R(dist=308563) chrX 65506919 65506919 T C het . 2 +intergenic HEPH(dist=30205),EDA2R(dist=298047) chrX 65517435 65517435 G A het . 2 +intergenic HEPH(dist=69775),EDA2R(dist=258477) chrX 65557005 65557005 T G het . 2 +intergenic HEPH(dist=88929),EDA2R(dist=239323) chrX 65576159 65576159 T C het . 2 +intergenic HEPH(dist=95048),EDA2R(dist=233204) chrX 65582278 65582278 T A het . 2 +intergenic HEPH(dist=98968),EDA2R(dist=229284) chrX 65586198 65586198 G T het . 2 +intergenic HEPH(dist=103662),EDA2R(dist=224590) chrX 65590892 65590892 T G het . 2 +intergenic HEPH(dist=111161),EDA2R(dist=217091) chrX 65598391 65598391 C T het . 2 +intergenic HEPH(dist=114427),EDA2R(dist=213825) chrX 65601657 65601657 A T het . 3 +intergenic HEPH(dist=120764),EDA2R(dist=207488) chrX 65607994 65607994 A G het . 2 +intergenic HEPH(dist=132804),EDA2R(dist=195448) chrX 65620034 65620034 C T het . 2 +intergenic HEPH(dist=137433),EDA2R(dist=190819) chrX 65624663 65624663 A G het . 2 +intergenic HEPH(dist=148266),EDA2R(dist=179986) chrX 65635496 65635496 T C het . 2 +intergenic HEPH(dist=158770),EDA2R(dist=169482) chrX 65646000 65646000 T C het . 2 +intergenic HEPH(dist=171394),EDA2R(dist=156858) chrX 65658624 65658624 - TTTG het . 2 +intergenic HEPH(dist=183011),EDA2R(dist=145241) chrX 65670241 65670241 C T het . 2 +intergenic HEPH(dist=192664),EDA2R(dist=135588) chrX 65679894 65679894 T C het . 2 +intergenic HEPH(dist=208480),EDA2R(dist=119772) chrX 65695710 65695710 C A het . 2 +intergenic HEPH(dist=212031),EDA2R(dist=116221) chrX 65699261 65699261 T A het . 2 +intergenic HEPH(dist=231943),EDA2R(dist=96309) chrX 65719173 65719173 T C het . 3 +intergenic HEPH(dist=238769),EDA2R(dist=89483) chrX 65725999 65725999 G A het . 3 +intergenic HEPH(dist=243045),EDA2R(dist=85207) chrX 65730275 65730275 G A het . 2 +intergenic HEPH(dist=255060),EDA2R(dist=73192) chrX 65742290 65742290 T C het . 2 +intergenic HEPH(dist=258963),EDA2R(dist=69289) chrX 65746193 65746193 C A het . 2 +intergenic HEPH(dist=267589),EDA2R(dist=60663) chrX 65754819 65754819 G A het . 2 +intergenic HEPH(dist=271855),EDA2R(dist=56397) chrX 65759085 65759085 C T het . 2 +intergenic HEPH(dist=273910),EDA2R(dist=54342) chrX 65761140 65761140 C G het . 3 +intergenic HEPH(dist=287231),EDA2R(dist=41021) chrX 65774461 65774461 G C het . 3 +intergenic HEPH(dist=287358),EDA2R(dist=40894) chrX 65774588 65774588 A C het . 4 +intergenic HEPH(dist=301290),EDA2R(dist=26962) chrX 65788520 65788520 T G het . 2 +intergenic HEPH(dist=307945),EDA2R(dist=20307) chrX 65795175 65795175 G C het . 2 +intergenic HEPH(dist=311425),EDA2R(dist=16827) chrX 65798655 65798655 - T het . 3 +intronic EDA2R chrX 65819223 65819223 A G het . 3 +intronic EDA2R chrX 65819286 65819286 - T het . 4 +exonic EDA2R chrX 65822607 65822607 T C het . 9 +exonic EDA2R chrX 65824986 65824986 C T het . 13 +intergenic EDA2R(dist=120033),AR(dist=785292) chrX 65979173 65979173 T C het . 2 +intergenic EDA2R(dist=163265),AR(dist=742060) chrX 66022405 66022405 A G het . 4 +intergenic EDA2R(dist=209451),AR(dist=695874) chrX 66068591 66068591 G A het . 2 +intergenic EDA2R(dist=306096),AR(dist=599229) chrX 66165236 66165236 A G het . 2 +intergenic EDA2R(dist=388031),AR(dist=517294) chrX 66247171 66247171 C T het . 4 +intergenic EDA2R(dist=432348),AR(dist=472977) chrX 66291488 66291488 C T het . 2 +intergenic EDA2R(dist=438054),AR(dist=467271) chrX 66297194 66297194 T C het . 2 +intergenic EDA2R(dist=444713),AR(dist=460612) chrX 66303853 66303853 - ATG het . 1 +intergenic EDA2R(dist=448370),AR(dist=456955) chrX 66307510 66307510 C T het . 2 +intergenic EDA2R(dist=451120),AR(dist=454205) chrX 66310260 66310260 T C het . 2 +intergenic EDA2R(dist=480757),AR(dist=424568) chrX 66339897 66339897 G A het . 2 +intergenic EDA2R(dist=511011),AR(dist=394314) chrX 66370151 66370151 T C het . 2 +intergenic EDA2R(dist=524784),AR(dist=380541) chrX 66383924 66383924 G A het . 2 +intergenic EDA2R(dist=535713),AR(dist=369612) chrX 66394853 66394853 T C het . 2 +intergenic EDA2R(dist=702382),AR(dist=202943) chrX 66561522 66561522 C A het . 2 +intergenic EDA2R(dist=704874),AR(dist=200451) chrX 66564014 66564014 A C het . 2 +intergenic EDA2R(dist=712314),AR(dist=193011) chrX 66571454 66571454 C T het . 2 +intergenic EDA2R(dist=727431),AR(dist=177894) chrX 66586571 66586571 G A het . 2 +intergenic EDA2R(dist=737510),AR(dist=167815) chrX 66596650 66596650 C T het . 3 +intergenic EDA2R(dist=748743),AR(dist=156582) chrX 66607883 66607883 A G het . 2 +intergenic EDA2R(dist=749004),AR(dist=156321) chrX 66608144 66608144 T C het . 2 +intergenic EDA2R(dist=765874),AR(dist=139451) chrX 66625014 66625014 A T het . 2 +intergenic EDA2R(dist=773178),AR(dist=132147) chrX 66632318 66632318 A T het . 1 +intergenic EDA2R(dist=773203),AR(dist=132122) chrX 66632343 66632343 G A het . 2 +intergenic EDA2R(dist=813163),AR(dist=92162) chrX 66672303 66672303 G A het . 7 +intergenic EDA2R(dist=865692),AR(dist=39633) chrX 66724832 66724832 A T het . 2 +exonic AR chrX 66765627 66765627 G A het . 19 +intronic AR chrX 66812504 66812504 A T het . 2 +intronic AR chrX 66863453 66863453 T G het . 3 +intronic AR chrX 66931037 66931037 A T het . 3 +intronic AR chrX 66936344 66936344 C G het . 2 +intronic AR chrX 66941597 66941597 T G het . 17 +intergenic AR(dist=22017),OPHN1(dist=289708) chrX 66972478 66972478 T C het . 2 +intergenic AR(dist=40117),OPHN1(dist=271607) chrX 66990578 66990579 AT GA het . 2 +intergenic AR(dist=52525),OPHN1(dist=259200) chrX 67002986 67002986 C T het . 2 +intergenic AR(dist=98262),OPHN1(dist=213463) chrX 67048723 67048723 C G het . 2 +intergenic AR(dist=114800),OPHN1(dist=196925) chrX 67065261 67065261 T G het . 2 +intergenic AR(dist=126359),OPHN1(dist=185366) chrX 67076820 67076820 C T het . 3 +intergenic AR(dist=188502),OPHN1(dist=123223) chrX 67138963 67138963 T C het . 2 +intergenic AR(dist=201493),OPHN1(dist=110232) chrX 67151954 67151954 C A het . 2 +intergenic AR(dist=213027),OPHN1(dist=98698) chrX 67163488 67163488 C T het . 4 +intergenic AR(dist=236655),OPHN1(dist=75070) chrX 67187116 67187116 - AATAA het . 2 +intergenic AR(dist=305978),OPHN1(dist=5747) chrX 67256439 67256439 T C het . 2 +intronic OPHN1 chrX 67272471 67272471 G T het . 28 +intronic OPHN1 chrX 67284113 67284113 G T het . 13 +intronic OPHN1 chrX 67301943 67301943 C G het . 5 +intronic OPHN1 chrX 67319805 67319805 G A het . 3 +intronic OPHN1 chrX 67341220 67341220 C T het . 3 +intronic OPHN1 chrX 67351545 67351545 G A het . 2 +intronic OPHN1 chrX 67353470 67353470 C T het . 13 +intronic OPHN1 chrX 67391584 67391584 - A het . 3 +intronic OPHN1 chrX 67412906 67412906 G A het . 21 +intronic OPHN1 chrX 67414426 67414426 C T het . 18 +intronic OPHN1 chrX 67429835 67429836 TT - het . 14 +intronic OPHN1 chrX 67431814 67431814 A G het . 14 +intronic OPHN1 chrX 67622230 67622234 AGAAG - het . 13 +intronic OPHN1 chrX 67652513 67652513 A G het . 2 +intergenic OPHN1(dist=19376),YIPF6(dist=45949) chrX 67672675 67672675 A T het . 3 +intergenic OPHN1(dist=46353),YIPF6(dist=18972) chrX 67699652 67699652 G A het . 1 +intronic YIPF6 chrX 67723687 67723687 A T het . 2 +exonic STARD8 chrX 67937976 67937976 G A het . 8 +intergenic EFNB1(dist=11317),PJA1(dist=307258) chrX 68073323 68073323 C T het . 3 +intergenic EFNB1(dist=39795),PJA1(dist=278780) chrX 68101801 68101801 G A het . 2 +intergenic EFNB1(dist=110293),PJA1(dist=208282) chrX 68172299 68172299 C A het . 2 +intergenic EFNB1(dist=131066),PJA1(dist=187509) chrX 68193072 68193072 G T het . 2 +intergenic EFNB1(dist=134431),PJA1(dist=184144) chrX 68196437 68196437 T C het . 2 +intergenic EFNB1(dist=136336),PJA1(dist=182239) chrX 68198342 68198342 T - het . 2 +intergenic EFNB1(dist=154475),PJA1(dist=164100) chrX 68216481 68216481 C T het . 2 +intergenic EFNB1(dist=168992),PJA1(dist=149583) chrX 68230998 68230998 A T het . 2 +exonic PJA1 chrX 68381264 68381264 C A het . 9 +exonic PJA1 chrX 68381787 68381787 C T het . 29 +exonic PJA1 chrX 68381912 68381912 G A het . 18 +exonic PJA1 chrX 68382836 68382836 G A het . 18 +intergenic PJA1(dist=8527),LINC00269(dist=5508) chrX 68393892 68393892 T C het . 5 +intergenic PJA1(dist=9149),LINC00269(dist=4886) chrX 68394514 68394514 G A het . 18 +intergenic PJA1(dist=9151),LINC00269(dist=4884) chrX 68394516 68394516 G A het . 18 +ncRNA_intronic LINC00269 chrX 68424577 68424578 TC CT het . 4 +ncRNA_exonic LINC00269 chrX 68424753 68424753 G A het . 17 +intergenic LINC00269(dist=49991),FAM155B(dist=245320) chrX 68479758 68479758 T C het . 2 +intergenic LINC00269(dist=61322),FAM155B(dist=233989) chrX 68491089 68491089 - T het . 2 +intergenic LINC00269(dist=74721),FAM155B(dist=220590) chrX 68504488 68504488 T C het . 2 +intergenic LINC00269(dist=230421),FAM155B(dist=64890) chrX 68660188 68660188 T G het . 2 +intergenic LINC00269(dist=238376),FAM155B(dist=56935) chrX 68668143 68668143 A G het . 2 +intergenic LINC00269(dist=247403),FAM155B(dist=47908) chrX 68677170 68677170 T C het . 2 +intergenic LINC00269(dist=260322),FAM155B(dist=34989) chrX 68690089 68690089 G A het . 3 +intronic FAM155B chrX 68749379 68749379 G A het . 3 +intronic EDA chrX 68902764 68902764 T C het . 2 +intronic EDA chrX 68953847 68953848 GG TT het . 3 +intronic EDA chrX 68996186 68996186 A G het . 1 +intronic EDA chrX 69001552 69001552 A G het . 2 +intronic EDA chrX 69001559 69001559 C T het . 2 +intronic EDA chrX 69001617 69001617 A G het . 3 +intronic EDA chrX 69058596 69058596 T A het . 2 +intronic EDA chrX 69080565 69080565 T C het . 23 +UTR3 EDA(NM_001005613:c.*186G>A,NM_001005610:c.*141G>A) chrX 69080840 69080840 G A het . 10 +intronic EDA chrX 69160326 69160326 - T het . 2 +intronic EDA chrX 69177355 69177355 C A het . 1 +intronic EDA chrX 69194622 69194622 G A het . 2 +intronic EDA chrX 69194649 69194649 G A het . 2 +intronic EDA chrX 69194719 69194719 G A het . 3 +intronic EDA chrX 69236899 69236899 A - het . 2 +intronic EDA chrX 69247416 69247416 T A het . 3 +intronic EDA chrX 69247486 69247486 G A het . 5 +intronic EDA chrX 69247673 69247673 A - het . 25 +intronic AWAT2 chrX 69262855 69262857 TCT - het . 2 +intronic AWAT2 chrX 69268407 69268407 A G het . 3 +intergenic OTUD6A(dist=6674),IGBP1(dist=62615) chrX 69290703 69290703 C A het . 2 +intronic IGBP1 chrX 69355987 69355987 T C het . 2 +intronic IGBP1 chrX 69370384 69370384 T G het . 2 +intronic IGBP1 chrX 69371494 69371494 G A het . 2 +intronic IGBP1 chrX 69382141 69382141 C A het . 2 +intergenic IGBP1(dist=3967),DGAT2L6(dist=7193) chrX 69390140 69390140 T C het . 2 +intergenic IGBP1(dist=3974),DGAT2L6(dist=7186) chrX 69390147 69390147 C T het . 2 +intronic DGAT2L6 chrX 69416482 69416482 - A het . 2 +intronic AWAT1 chrX 69459945 69459945 C T het . 7 +downstream AWAT1(dist=717) chrX 69461228 69461228 A T het . 2 +intronic ARR3 chrX 69495817 69495817 G A het . 3 +intronic ARR3 chrX 69496228 69496228 T C het . 9 +intronic ARR3 chrX 69500853 69500853 G - het . 4 +UTR5 RAB41(NM_001032726:c.-14A>G,NM_001363807:c.-14A>G) chrX 69502054 69502054 A G het . 8 +intronic RAB41 chrX 69502479 69502479 A G het . 14 +intronic RAB41 chrX 69504073 69504073 T C het . 3 +intronic RAB41 chrX 69504078 69504078 T G het . 3 +intronic KIF4A chrX 69515061 69515061 A G het . 2 +intronic KIF4A chrX 69591055 69591055 T G het . 2 +intronic KIF4A chrX 69591062 69591062 C G het . 1 +intronic KIF4A chrX 69591065 69591065 C G het . 1 +intronic KIF4A chrX 69593870 69593870 G A het . 5 +intronic KIF4A chrX 69595909 69595909 C G het . 11 +intronic KIF4A chrX 69606558 69606558 A G het . 24 +intronic KIF4A chrX 69606983 69606983 T - het . 7 +intronic KIF4A chrX 69616952 69616952 A G het . 2 +intronic KIF4A chrX 69625447 69625447 C T het . 3 +intronic KIF4A chrX 69626543 69626543 C A het . 4 +intronic KIF4A chrX 69639698 69639698 G T het . 5 +exonic GDPD2 chrX 69652762 69652762 A G het . 21 +intronic DLG3 chrX 69715396 69715396 T G het . 4 +intronic TEX11 chrX 69749852 69749853 AT GA het . 10 +intronic TEX11 chrX 69753972 69753972 A C het . 3 +exonic TEX11 chrX 69774517 69774517 A T het . 9 +intronic TEX11 chrX 69779984 69779984 G T het . 3 +intronic TEX11 chrX 69799380 69799380 - AC het . 2 +intronic TEX11 chrX 69802329 69802329 A G het . 2 +intronic TEX11 chrX 69811416 69811416 G A het . 4 +intronic TEX11 chrX 69811844 69811844 G T het . 5 +intronic TEX11 chrX 69816416 69816416 G A het . 2 +intronic TEX11 chrX 69844148 69844148 A G het . 5 +intronic TEX11 chrX 69844797 69844797 G A het . 11 +intronic TEX11 chrX 69844948 69844948 G A het . 4 +intronic TEX11 chrX 69864932 69864932 G C het . 2 +intronic TEX11 chrX 69865845 69865845 T G het . 2 +intronic TEX11 chrX 69871592 69871592 T C het . 2 +intronic TEX11 chrX 69874262 69874262 T A het . 3 +intronic TEX11 chrX 69894805 69894805 C A het . 1 +intronic TEX11 chrX 69898743 69898745 AAA - het . 12 +intronic TEX11 chrX 69907546 69907546 T C het . 2 +intronic TEX11 chrX 69907550 69907550 G A het . 2 +intronic TEX11 chrX 69918457 69918457 G C het . 2 +intronic TEX11 chrX 69957441 69957441 C T het . 3 +intronic TEX11 chrX 69957534 69957534 C - het . 2 +intronic TEX11 chrX 69960654 69960654 A - het . 19 +intronic TEX11 chrX 69964084 69964084 - A het . 11 +intronic TEX11 chrX 70011773 70011773 G A het . 3 +intronic TEX11 chrX 70016629 70016629 C T het . 1 +intronic TEX11 chrX 70043864 70043864 C T het . 3 +intronic TEX11 chrX 70093038 70093038 C T het . 8 +intergenic TEX11(dist=1311),SLC7A3(dist=15552) chrX 70129878 70129878 C A het . 4 +intergenic TEX11(dist=7430),SLC7A3(dist=9433) chrX 70135997 70135997 A C het . 2 +intergenic TEX11(dist=11514),SLC7A3(dist=5349) chrX 70140081 70140081 A G het . 2 +intergenic TEX11(dist=15545),SLC7A3(dist=1318) chrX 70144112 70144112 T - het . 2 +exonic SLC7A3 chrX 70146398 70146398 A G het . 5 +intronic SLC7A3 chrX 70148590 70148590 T C het . 2 +intronic SLC7A3 chrX 70148927 70148927 T A het . 2 +intergenic SLC7A3(dist=4728),SNX12(dist=123394) chrX 70155703 70155703 G C het . 2 +intergenic SLC7A3(dist=13242),SNX12(dist=114880) chrX 70164217 70164217 T C het . 1 +intergenic SLC7A3(dist=24583),SNX12(dist=103539) chrX 70175558 70175558 T C het . 2 +intergenic SLC7A3(dist=47983),SNX12(dist=80139) chrX 70198958 70198958 A G het . 2 +intergenic SLC7A3(dist=51598),SNX12(dist=76524) chrX 70202573 70202573 - TTTG het . 3 +intergenic SLC7A3(dist=51621),SNX12(dist=76501) chrX 70202596 70202596 T - het . 3 +intergenic SLC7A3(dist=83195),SNX12(dist=44927) chrX 70234170 70234170 T C het . 2 +intergenic SLC7A3(dist=93805),SNX12(dist=34317) chrX 70244780 70244780 C T het . 2 +intronic MED12 chrX 70339167 70339167 A C het . 14 +exonic MED12 chrX 70357225 70357225 C A het . 15 +intronic MED12 chrX 70361651 70361651 - A het . 31 +ncRNA_intronic BCYRN1 chrX 70468836 70468836 C A het . 5 +ncRNA_intronic BCYRN1 chrX 70534884 70534884 C A het . 18 +ncRNA_intronic BCYRN1 chrX 70609368 70609368 - A het . 10 +ncRNA_intronic BCYRN1 chrX 70617443 70617443 A G het . 1 +ncRNA_intronic BCYRN1 chrX 70726552 70726554 AAA - het . 5 +ncRNA_intronic BCYRN1 chrX 70875893 70875893 C G het . 3 +ncRNA_intronic BCYRN1 chrX 70882388 70882388 A G het . 2 +ncRNA_exonic LOC100129291 chrX 70886064 70886064 T G het . 5 +ncRNA_intronic BCYRN1 chrX 70890446 70890446 G A het . 1 +intergenic CXorf49B(dist=104800),NHSL2(dist=39087) chrX 71091851 71091851 G C het . 5 +intergenic CXorf49B(dist=118578),NHSL2(dist=25309) chrX 71105629 71105629 T A het . 2 +intergenic CXorf49B(dist=135855),NHSL2(dist=8032) chrX 71122906 71122906 T C het . 2 +intergenic CXorf49B(dist=138028),NHSL2(dist=5859) chrX 71125079 71125079 C T het . 2 +intronic NHSL2 chrX 71156602 71156602 G A het . 2 +intronic NHSL2 chrX 71168845 71168845 T C het . 2 +intronic NHSL2 chrX 71182921 71182921 T C het . 2 +intronic NHSL2 chrX 71189018 71189018 T C het . 1 +intronic NHSL2 chrX 71192181 71192181 G A het . 2 +intronic NHSL2 chrX 71203292 71203292 A - het . 2 +intronic NHSL2 chrX 71211242 71211242 C G het . 2 +intronic NHSL2 chrX 71225152 71225152 C T het . 3 +exonic RTL5 chrX 71349753 71349753 G A het . 8 +exonic RTL5 chrX 71349774 71349774 T C het . 8 +exonic RTL5 chrX 71350133 71350133 T G het . 29 +UTR5 RTL5(NM_001024455:c.-129G>T) chrX 71351519 71351519 C A het . 3 +intronic NHSL2 chrX 71356164 71356164 A C het . 2 +intronic NHSL2 chrX 71357093 71357093 G A het . 8 +intronic NHSL2 chrX 71357160 71357160 G T het . 2 +exonic NHSL2 chrX 71363415 71363415 C T het . 10 +intronic FLJ44635 chrX 71364479 71364479 A C het . 9 +exonic FLJ44635 chrX 71379702 71379702 T C het . 12 +exonic FLJ44635 chrX 71379853 71379853 C T het . 31 +exonic FLJ44635 chrX 71379881 71379881 G A het . 30 +UTR3 FLJ44635(NM_207422:c.*50C>T) chrX 71380152 71380152 C T het . 13 +intergenic FLJ44635(dist=4864),PIN4(dist=15062) chrX 71386464 71386464 A G het . 2 +intergenic FLJ44635(dist=7822),PIN4(dist=12104) chrX 71389422 71389422 A G het . 2 +exonic PIN4 chrX 71401607 71401607 G A het . 13 +exonic PIN4 chrX 71401614 71401614 C A het . 13 +intronic PIN4 chrX 71406301 71406301 T C het . 15 +exonic PIN4 chrX 71417349 71417349 T C het . 15 +exonic ERCC6L chrX 71426678 71426678 C A het . 23 +exonic ERCC6L chrX 71427720 71427720 C A het . 28 +intronic ERCC6L,PIN4 chrX 71444334 71444334 C T het . 2 +UTR5 ERCC6L(NM_017669:c.-33_-32insAAACTCC,NM_001009954:c.-30547_-30546insAAACTCC) chrX 71458793 71458793 - GGAGTTT het . 7 +downstream PIN4(dist=237) chrX 71484051 71484051 C A het . 3 +exonic RPS4X chrX 71493691 71493691 C T het . 13 +intronic RPS4X chrX 71495344 71495344 C T het . 5 +intronic RPS4X chrX 71495388 71495388 - CTA het . 12 +intergenic RPS4X(dist=21181),CITED1(dist=3166) chrX 71518322 71518322 A T het . 2 +intergenic RPS4X(dist=21658),CITED1(dist=2689) chrX 71518799 71518799 G T het . 10 +exonic CITED1 chrX 71521760 71521760 C A het . 18 +exonic CITED1 chrX 71521867 71521867 G C het . 26 +intergenic CITED1(dist=20148),HDAC8(dist=2180) chrX 71547185 71547186 TT - het . 2 +UTR3 HDAC8(NM_001166418:c.*392C>G,NM_018486:c.*392C>G) chrX 71549512 71549512 G C het . 22 +intronic HDAC8 chrX 71556429 71556429 A T het . 4 +intronic HDAC8 chrX 71576966 71576966 G T het . 2 +intronic PHKA1 chrX 71801383 71801383 C T het . 2 +intronic PHKA1 chrX 71813191 71813191 - T het . 11 +intronic PHKA1 chrX 71823194 71823194 A G het . 11 +intronic PHKA1 chrX 71838438 71838438 A G het . 6 +exonic PHKA1 chrX 71842982 71842982 T G het . 24 +intronic PHKA1 chrX 71902844 71902844 G T het . 2 +UTR5 PABPC1L2B(NM_001042506:c.-111A>G) chrX 72223371 72223371 A G het . 2 +intergenic PABPC1L2B(dist=22779),PABPC1L2A(dist=48847) chrX 72248330 72248330 C G het . 2 +intergenic PABPC1L2B(dist=45232),PABPC1L2A(dist=26394) chrX 72270783 72270783 A C het . 2 +intergenic PABPC1L2B-AS1(dist=15512),NAP1L6(dist=25890) chrX 72319986 72319986 T C het . 2 +intergenic PABPC1L2B-AS1(dist=15856),NAP1L6(dist=25546) chrX 72320330 72320330 A T het . 2 +intergenic NAP1L6(dist=11913),NAP1L2(dist=72305) chrX 72359832 72359832 G A het . 2 +intergenic NAP1L2(dist=8279),CDX4(dist=224101) chrX 72442989 72442989 C T het . 7 +intergenic NAP1L2(dist=23690),CDX4(dist=208690) chrX 72458400 72458400 C T het . 4 +intergenic NAP1L2(dist=24548),CDX4(dist=207832) chrX 72459258 72459258 A T het . 4 +intergenic NAP1L2(dist=149264),CDX4(dist=83116) chrX 72583974 72583974 C T het . 2 +intergenic NAP1L2(dist=193479),CDX4(dist=38901) chrX 72628189 72628189 C T het . 2 +intergenic NAP1L2(dist=203740),CDX4(dist=28640) chrX 72638450 72638450 G A het . 2 +ncRNA_exonic MAP2K4P1 chrX 72745977 72745977 T G het . 10 +intergenic CHIC1(dist=63600),TSIX(dist=41496) chrX 72970544 72970544 T C het . 2 +ncRNA_exonic TSIX,XIST chrX 73040959 73040959 G A het . 43 +ncRNA_exonic TSIX,XIST chrX 73042967 73042967 C A het . 27 +ncRNA_exonic XIST chrX 73062802 73062802 C A het . 31 +ncRNA_exonic XIST chrX 73067240 73067240 T - het . 16 +ncRNA_exonic XIST chrX 73067257 73067257 G T het . 17 +ncRNA_exonic XIST chrX 73069060 73069060 C A het . 30 +ncRNA_exonic XIST chrX 73071941 73071941 A - het . 30 +ncRNA_exonic XIST chrX 73072090 73072090 - A het . 28 +intergenic XIST(dist=22969),JPX(dist=68602) chrX 73095557 73095557 G A het . 9 +intergenic XIST(dist=85724),JPX(dist=5847) chrX 73158312 73158312 - A het . 6 +ncRNA_intronic FTX chrX 73350831 73350834 TACT - het . 26 +ncRNA_intronic FTX chrX 73463504 73463504 G A het . 2 +ncRNA_intronic FTX chrX 73472626 73472626 G A het . 2 +upstream ZCCHC13(dist=332) chrX 73523693 73523693 C T het . 2 +intergenic ZCCHC13(dist=4561),SLC16A2(dist=111898) chrX 73529430 73529430 T G het . 2 +intergenic ZCCHC13(dist=8124),SLC16A2(dist=108335) chrX 73532993 73532993 G A het . 2 +intergenic ZCCHC13(dist=9558),SLC16A2(dist=106901) chrX 73534427 73534427 A G het . 2 +intergenic ZCCHC13(dist=71631),SLC16A2(dist=44828) chrX 73596500 73596500 T C het . 5 +intergenic ZCCHC13(dist=86982),SLC16A2(dist=29477) chrX 73611851 73611851 T C het . 3 +intergenic ZCCHC13(dist=94454),SLC16A2(dist=22005) chrX 73619323 73619323 - G het . 20 +UTR5 SLC16A2(NM_006517:c.-82C>T) chrX 73641391 73641391 C T het . 32 +exonic SLC16A2 chrX 73641569 73641569 T C het . 24 +intronic SLC16A2 chrX 73687072 73687072 A G het . 1 +intronic SLC16A2 chrX 73716882 73716882 C T het . 2 +intronic SLC16A2 chrX 73749319 73749319 T G het . 4 +UTR3 RLIM(NM_183353:c.*8176_*8175delinsTA,NM_016120:c.*8176_*8175delinsTA) chrX 73803099 73803100 CG TA het . 33 +UTR3 RLIM(NM_183353:c.*8158A>T,NM_016120:c.*8158A>T) chrX 73803117 73803117 T A het . 31 +UTR3 RLIM(NM_183353:c.*8146C>T,NM_016120:c.*8146C>T) chrX 73803129 73803129 G A het . 27 +UTR3 RLIM(NM_183353:c.*8126T>C,NM_016120:c.*8126T>C) chrX 73803149 73803149 A G het . 31 +UTR3 RLIM(NM_183353:c.*8113C>G,NM_016120:c.*8113C>G) chrX 73803162 73803162 G C het . 34 +UTR3 RLIM(NM_183353:c.*8107_*8108insCTC,NM_016120:c.*8107_*8108insCTC) chrX 73803167 73803167 - GAG het . 36 +exonic NEXMIF chrX 73960664 73960664 C A het . 32 +exonic NEXMIF chrX 73963576 73963576 C A het . 26 +intronic NEXMIF chrX 74111360 74111360 G T het . 2 +intronic NEXMIF chrX 74125664 74125664 C A het . 2 +intronic NEXMIF chrX 74125732 74125732 C T het . 3 +intronic ABCB7 chrX 74289344 74289344 C T het . 8 +exonic ABCB7 chrX 74295415 74295415 C A het . 33 +intronic ABCB7 chrX 74332585 74332585 - T het . 6 +intronic ABCB7 chrX 74334687 74334687 T C het . 24 +intronic ABCB7 chrX 74338393 74338393 G A het . 2 +intronic ABCB7 chrX 74375871 74375871 G C het . 11 +intronic UPRT chrX 74376420 74376420 C T het . 4 +UTR5 UPRT(NM_001363821:c.-132888A>G) chrX 74380441 74380441 A G het . 2 +intronic UPRT chrX 74487715 74487715 T A het . 2 +exonic UPRT chrX 74494470 74494470 T G het . 3 +intronic UPRT chrX 74494483 74494483 A G het . 3 +intronic UPRT chrX 74503204 74503204 C T het . 2 +intronic UPRT chrX 74511202 74511202 G C het . 9 +UTR3 UPRT(NM_001363821:c.*21A>G,NM_001307944:c.*155A>G,NM_145052:c.*21A>G) chrX 74523367 74523367 A G het . 12 +intergenic UPRT(dist=17911),ZDHHC15(dist=45619) chrX 74542643 74542643 A G het . 2 +intergenic UPRT(dist=21891),ZDHHC15(dist=41639) chrX 74546623 74546623 G A het . 5 +intergenic UPRT(dist=21962),ZDHHC15(dist=41568) chrX 74546694 74546694 T - het . 7 +intergenic UPRT(dist=22870),ZDHHC15(dist=40660) chrX 74547602 74547602 C A het . 10 +intergenic UPRT(dist=23733),ZDHHC15(dist=39797) chrX 74548465 74548465 T C het . 6 +intergenic UPRT(dist=23858),ZDHHC15(dist=39672) chrX 74548590 74548590 A T het . 2 +intergenic UPRT(dist=28812),ZDHHC15(dist=34718) chrX 74553544 74553544 G A het . 2 +intergenic UPRT(dist=60638),ZDHHC15(dist=2892) chrX 74585370 74585370 G A het . 2 +intronic ZDHHC15 chrX 74606464 74606464 C T het . 2 +intronic ZDHHC15 chrX 74609834 74609834 C T het . 4 +intronic ZDHHC15 chrX 74613822 74613822 T C het . 2 +intronic ZDHHC15 chrX 74616237 74616237 C T het . 2 +intronic ZDHHC15 chrX 74619955 74619955 C T het . 3 +intronic ZDHHC15 chrX 74619982 74619982 C T het . 3 +intronic ZDHHC15 chrX 74634569 74634569 A G het . 1 +intronic ZDHHC15 chrX 74636809 74636809 C A het . 3 +intronic ZDHHC15 chrX 74643031 74643031 T A het . 2 +intronic ZDHHC15 chrX 74679825 74679825 C T het . 3 +intergenic ZDHHC15(dist=30689),TTC3P1(dist=186347) chrX 74774026 74774026 G A het . 3 +intergenic ZDHHC15(dist=59230),TTC3P1(dist=157806) chrX 74802567 74802567 C A het . 4 +intergenic ZDHHC15(dist=60218),TTC3P1(dist=156818) chrX 74803555 74803555 T A het . 11 +intergenic ZDHHC15(dist=161640),TTC3P1(dist=55396) chrX 74904977 74904977 T C het . 2 +intergenic ZDHHC15(dist=205358),TTC3P1(dist=11678) chrX 74948695 74948695 T G het . 2 +ncRNA_exonic TTC3P1 chrX 74961837 74961837 A G het . 31 +ncRNA_exonic TTC3P1 chrX 74961968 74961968 G A het . 37 +intergenic TTC3P1(dist=1301),MAGEE2(dist=38608) chrX 74964215 74964215 T C het . 10 +intergenic MAGEE2(dist=33556),PBDC1(dist=354129) chrX 75038635 75038635 T C het . 3 +intergenic MAGEE2(dist=108089),PBDC1(dist=279596) chrX 75113168 75113168 C G het . 2 +intergenic MAGEE2(dist=112469),PBDC1(dist=275216) chrX 75117548 75117548 T C het . 2 +intergenic MAGEE2(dist=150086),PBDC1(dist=237599) chrX 75155165 75155165 T G het . 2 +intergenic MAGEE2(dist=153500),PBDC1(dist=234185) chrX 75158579 75158579 A T het . 2 +intergenic MAGEE2(dist=215908),PBDC1(dist=171777) chrX 75220987 75220987 A G het . 2 +intergenic MAGEE2(dist=245077),PBDC1(dist=142608) chrX 75250156 75250156 A G het . 13 +intergenic MAGEE2(dist=253089),PBDC1(dist=134596) chrX 75258168 75258168 T C het . 2 +intergenic MAGEE2(dist=270273),PBDC1(dist=117412) chrX 75275352 75275352 G A het . 2 +intergenic MAGEE2(dist=330867),PBDC1(dist=56818) chrX 75335946 75335946 T C het . 2 +intergenic MAGEE2(dist=368107),PBDC1(dist=19578) chrX 75373186 75373186 A G het . 2 +intronic PBDC1 chrX 75395187 75395187 C T het . 3 +intergenic PBDC1(dist=9181),MAGEE1(dist=240720) chrX 75407326 75407326 A G het . 2 +intergenic PBDC1(dist=43835),MAGEE1(dist=206066) chrX 75441980 75441980 - AAGAA het . 8 +intergenic PBDC1(dist=55955),MAGEE1(dist=193946) chrX 75454100 75454100 T C het . 2 +intergenic PBDC1(dist=108946),MAGEE1(dist=140955) chrX 75507091 75507091 G C het . 6 +intergenic PBDC1(dist=118279),MAGEE1(dist=131622) chrX 75516424 75516424 G C het . 2 +intergenic PBDC1(dist=132661),MAGEE1(dist=117240) chrX 75530806 75530806 C T het . 2 +intergenic PBDC1(dist=157020),MAGEE1(dist=92881) chrX 75555165 75555165 T C het . 7 +intergenic PBDC1(dist=157207),MAGEE1(dist=92694) chrX 75555352 75555352 G A het . 14 +intergenic PBDC1(dist=157665),MAGEE1(dist=92236) chrX 75555810 75555810 C T het . 3 +intergenic PBDC1(dist=157811),MAGEE1(dist=92090) chrX 75555956 75555956 A C het . 8 +intergenic PBDC1(dist=157876),MAGEE1(dist=92025) chrX 75556021 75556021 T G het . 16 +intergenic PBDC1(dist=157976),MAGEE1(dist=91925) chrX 75556121 75556121 C G het . 24 +intergenic PBDC1(dist=165369),MAGEE1(dist=84532) chrX 75563514 75563514 C T het . 2 +intergenic PBDC1(dist=223426),MAGEE1(dist=26475) chrX 75621571 75621571 T G het . 2 +ncRNA_intronic MIR325HG chrX 75932103 75932103 G A het . 2 +ncRNA_intronic MIR325HG chrX 75932113 75932113 C T het . 2 +ncRNA_intronic MIR325HG chrX 76027512 76027512 C T het . 2 +ncRNA_intronic MIR325HG chrX 76040810 76040810 G A het . 1 +ncRNA_intronic MIR325HG chrX 76046855 76046855 G A het . 2 +ncRNA_intronic MIR325HG chrX 76058446 76058446 C G het . 2 +ncRNA_intronic MIR325HG chrX 76070979 76070979 A G het . 2 +ncRNA_intronic MIR325HG chrX 76077090 76077090 C T het . 2 +ncRNA_intronic MIR325HG chrX 76079173 76079173 A G het . 2 +ncRNA_intronic MIR325HG chrX 76079780 76079780 A G het . 3 +ncRNA_intronic MIR325HG chrX 76090543 76090543 T A het . 3 +ncRNA_intronic MIR325HG chrX 76112752 76112752 A G het . 3 +ncRNA_intronic MIR325HG chrX 76138531 76138531 C G het . 3 +ncRNA_intronic MIR325HG chrX 76153161 76153161 C T het . 2 +ncRNA_intronic MIR325HG chrX 76159007 76159007 A G het . 2 +ncRNA_intronic MIR325HG chrX 76168675 76168675 C T het . 2 +ncRNA_intronic MIR325HG chrX 76226761 76226761 A G het . 3 +ncRNA_intronic MIR325HG chrX 76227454 76227454 C T het . 2 +intergenic MIR325HG(dist=26509),FGF16(dist=448181) chrX 76261466 76261466 G A het . 1 +intergenic MIR325HG(dist=65821),FGF16(dist=408869) chrX 76300778 76300778 C T het . 6 +intergenic MIR325HG(dist=65836),FGF16(dist=408854) chrX 76300793 76300793 A G het . 5 +intergenic MIR325HG(dist=110824),FGF16(dist=363866) chrX 76345781 76345781 G A het . 2 +intergenic MIR325HG(dist=140742),FGF16(dist=333948) chrX 76375699 76375699 C T het . 2 +intergenic MIR325HG(dist=224296),FGF16(dist=250394) chrX 76459253 76459253 A G het . 2 +intergenic MIR325HG(dist=301463),FGF16(dist=173227) chrX 76536420 76536420 A G het . 2 +intergenic MIR325HG(dist=351322),FGF16(dist=123368) chrX 76586279 76586279 G A het . 2 +intergenic MIR325HG(dist=364230),FGF16(dist=110460) chrX 76599187 76599187 C T het . 2 +intergenic MIR325HG(dist=394491),FGF16(dist=80199) chrX 76629448 76629448 G C het . 4 +UTR3 ATRX(NM_138270:c.*149delT,NM_000489:c.*149delT) chrX 76763680 76763680 A - het . 5 +intronic ATRX chrX 76777020 76777020 C A het . 22 +intronic ATRX chrX 76777386 76777386 G A het . 3 +intronic ATRX chrX 76784006 76784006 G C het . 2 +intronic ATRX chrX 76817913 76817913 T A het . 3 +intronic ATRX chrX 76843875 76843875 C A het . 3 +intronic ATRX chrX 76848940 76848940 C T het . 3 +intronic ATRX chrX 76919991 76919991 T C het . 6 +intronic ATRX chrX 76936950 76936951 AC - het . 13 +exonic ATRX chrX 76937963 76937963 G C het . 46 +exonic ATRX chrX 76938015 76938015 C A het . 54 +intronic ATRX chrX 76940534 76940534 A G het . 20 +intronic ATRX chrX 77026855 77026855 A - het . 2 +intronic MAGT1 chrX 77094818 77094818 C A het . 3 +intronic ATP7A chrX 77244687 77244687 C A het . 17 +intronic ATP7A chrX 77254265 77254265 - T het . 16 +intronic ATP7A chrX 77254795 77254795 A G het . 2 +intronic ATP7A chrX 77261329 77261329 T G het . 3 +intronic ATP7A chrX 77286831 77286831 T - het . 13 +intronic ATP7A chrX 77296047 77296047 G C het . 11 +exonic ATP7A chrX 77298857 77298857 G A het . 29 +UTR5 PGK1(NM_000291:c.-113C>T) chrX 77359725 77359725 C T het . 12 +downstream PGK1(dist=648) chrX 77382972 77382972 A C het . 2 +intergenic TAF9B(dist=10356),CYSLTR1(dist=121434) chrX 77405535 77405535 G T het . 2 +intergenic TAF9B(dist=10592),CYSLTR1(dist=121198) chrX 77405771 77405771 C A het . 2 +intergenic TAF9B(dist=25069),CYSLTR1(dist=106721) chrX 77420248 77420248 G A het . 2 +intergenic TAF9B(dist=26777),CYSLTR1(dist=105013) chrX 77421956 77421956 A T het . 3 +intergenic TAF9B(dist=78787),CYSLTR1(dist=53003) chrX 77473966 77473966 C T het . 2 +exonic CYSLTR1 chrX 77528317 77528317 G A het . 18 +intergenic CYSLTR1(dist=6846),RTL3(dist=321532) chrX 77590034 77590034 G A het . 2 +intergenic CYSLTR1(dist=27138),RTL3(dist=301240) chrX 77610326 77610326 G T het . 3 +intergenic CYSLTR1(dist=65995),RTL3(dist=262383) chrX 77649183 77649183 G A het . 2 +intergenic CYSLTR1(dist=67545),RTL3(dist=260833) chrX 77650733 77650733 C A het . 2 +intergenic CYSLTR1(dist=88429),RTL3(dist=239949) chrX 77671617 77671617 C A het . 2 +intergenic CYSLTR1(dist=93911),RTL3(dist=234467) chrX 77677099 77677099 G A het . 2 +intergenic CYSLTR1(dist=123383),RTL3(dist=204995) chrX 77706571 77706571 A G het . 3 +intergenic CYSLTR1(dist=134792),RTL3(dist=193586) chrX 77717980 77717980 T A het . 2 +intergenic CYSLTR1(dist=145706),RTL3(dist=182672) chrX 77728894 77728894 G T het . 1 +intergenic CYSLTR1(dist=148690),RTL3(dist=179688) chrX 77731878 77731878 G T het . 2 +intergenic CYSLTR1(dist=149086),RTL3(dist=179292) chrX 77732274 77732274 C T het . 1 +intergenic CYSLTR1(dist=149096),RTL3(dist=179282) chrX 77732284 77732284 C A het . 2 +intergenic CYSLTR1(dist=187740),RTL3(dist=140638) chrX 77770928 77770928 T C het . 2 +intergenic CYSLTR1(dist=266721),RTL3(dist=61657) chrX 77849909 77849909 G A het . 3 +intergenic CYSLTR1(dist=308569),RTL3(dist=19809) chrX 77891757 77891757 A C het . 2 +exonic RTL3 chrX 77913115 77913115 A C het . 18 +exonic RTL3 chrX 77913569 77913569 G A het . 2 +intergenic RTL3(dist=85047),LPAR4(dist=3334) chrX 77999872 77999872 C T het . 2 +intergenic LPAR4(dist=4765),MIR4328(dist=139348) chrX 78017343 78017343 A T het . 2 +intergenic LPAR4(dist=9842),MIR4328(dist=134271) chrX 78022420 78022420 G C het . 2 +intergenic LPAR4(dist=10782),MIR4328(dist=133331) chrX 78023360 78023360 G C het . 2 +intergenic LPAR4(dist=12773),MIR4328(dist=131340) chrX 78025351 78025351 T C het . 2 +intergenic LPAR4(dist=55066),MIR4328(dist=89047) chrX 78067644 78067644 A G het . 2 +intergenic LPAR4(dist=105951),MIR4328(dist=38162) chrX 78118529 78118529 G A het . 2 +intergenic MIR4328(dist=33138),P2RY10(dist=10945) chrX 78189884 78189884 A G het . 2 +intergenic MIR4328(dist=42407),P2RY10(dist=1676) chrX 78199153 78199153 C T het . 2 +intergenic P2RY10(dist=7707),GPR174(dist=199538) chrX 78226931 78226931 C T het . 2 +intergenic P2RY10(dist=88973),GPR174(dist=118272) chrX 78308197 78308197 G A het . 2 +intergenic P2RY10(dist=98531),GPR174(dist=108714) chrX 78317755 78317755 C T het . 2 +intergenic P2RY10(dist=121295),GPR174(dist=85950) chrX 78340519 78340519 G C het . 3 +intergenic P2RY10(dist=124459),GPR174(dist=82786) chrX 78343683 78343683 T G het . 3 +intergenic P2RY10(dist=168820),GPR174(dist=38425) chrX 78388044 78388044 A G het . 2 +intergenic P2RY10(dist=168839),GPR174(dist=38406) chrX 78388063 78388063 T G het . 1 +intergenic GPR174(dist=10341),ITM2A(dist=177814) chrX 78438067 78438067 A C het . 3 +intergenic GPR174(dist=61629),ITM2A(dist=126526) chrX 78489355 78489355 A G het . 2 +intergenic GPR174(dist=82857),ITM2A(dist=105298) chrX 78510583 78510583 A G het . 2 +intergenic GPR174(dist=135945),ITM2A(dist=52210) chrX 78563671 78563671 A T het . 3 +intergenic GPR174(dist=137586),ITM2A(dist=50569) chrX 78565312 78565312 A C het . 1 +intergenic GPR174(dist=137607),ITM2A(dist=50548) chrX 78565333 78565333 A T het . 2 +intergenic GPR174(dist=151284),ITM2A(dist=36871) chrX 78579010 78579010 A G het . 4 +intergenic GPR174(dist=151308),ITM2A(dist=36847) chrX 78579034 78579034 G A het . 5 +intergenic GPR174(dist=151511),ITM2A(dist=36644) chrX 78579237 78579237 T C het . 12 +intergenic GPR174(dist=151629),ITM2A(dist=36526) chrX 78579355 78579355 A C het . 6 +intergenic GPR174(dist=152313),ITM2A(dist=35842) chrX 78580039 78580039 C T het . 11 +intergenic GPR174(dist=152494),ITM2A(dist=35661) chrX 78580220 78580220 C T het . 4 +intergenic GPR174(dist=159213),ITM2A(dist=28942) chrX 78586939 78586939 C T het . 2 +intergenic GPR174(dist=180071),ITM2A(dist=8084) chrX 78607797 78607797 T C het . 3 +intergenic GPR174(dist=183683),ITM2A(dist=4472) chrX 78611409 78611409 T C het . 1 +exonic ITM2A chrX 78616923 78616923 C T het . 18 +intronic ITM2A chrX 78617053 78617053 A G het . 14 +intronic ITM2A chrX 78617999 78617999 T C het . 5 +intronic ITM2A chrX 78618050 78618050 A G het . 5 +intronic ITM2A chrX 78619199 78619199 A G het . 9 +intergenic ITM2A(dist=17831),TBX22(dist=629375) chrX 78640880 78640880 - A het . 2 +intergenic ITM2A(dist=32868),TBX22(dist=614338) chrX 78655917 78655917 A C het . 2 +intergenic ITM2A(dist=139278),TBX22(dist=507928) chrX 78762327 78762327 C G het . 2 +intergenic ITM2A(dist=152829),TBX22(dist=494377) chrX 78775878 78775878 C T het . 1 +intergenic ITM2A(dist=163096),TBX22(dist=484110) chrX 78786145 78786145 - G het . 2 +intergenic ITM2A(dist=199363),TBX22(dist=447843) chrX 78822412 78822412 T C het . 2 +intergenic ITM2A(dist=219205),TBX22(dist=428001) chrX 78842254 78842254 A G het . 2 +intergenic ITM2A(dist=261962),TBX22(dist=385244) chrX 78885011 78885011 A G het . 2 +intergenic ITM2A(dist=262204),TBX22(dist=385002) chrX 78885253 78885253 G T het . 4 +intergenic ITM2A(dist=290420),TBX22(dist=356786) chrX 78913469 78913469 A C het . 2 +intergenic ITM2A(dist=296762),TBX22(dist=350444) chrX 78919811 78919811 A G het . 2 +intergenic ITM2A(dist=305703),TBX22(dist=341503) chrX 78928752 78928752 C G het . 1 +intergenic ITM2A(dist=306219),TBX22(dist=340987) chrX 78929268 78929268 - T het . 2 +intergenic ITM2A(dist=306944),TBX22(dist=340261) chrX 78929993 78929994 AT - het . 2 +intergenic ITM2A(dist=439110),TBX22(dist=208096) chrX 79062159 79062159 C T het . 3 +intergenic ITM2A(dist=451484),TBX22(dist=195722) chrX 79074533 79074533 A G het . 2 +intergenic ITM2A(dist=452815),TBX22(dist=194391) chrX 79075864 79075864 G A het . 2 +intergenic ITM2A(dist=489325),TBX22(dist=157881) chrX 79112374 79112374 A C het . 2 +intergenic ITM2A(dist=489461),TBX22(dist=157745) chrX 79112510 79112510 T G het . 2 +intergenic ITM2A(dist=490798),TBX22(dist=156408) chrX 79113847 79113847 G A het . 2 +intergenic ITM2A(dist=515316),TBX22(dist=131890) chrX 79138365 79138365 T C het . 2 +intergenic ITM2A(dist=516334),TBX22(dist=130872) chrX 79139383 79139383 - A het . 2 +intergenic ITM2A(dist=522346),TBX22(dist=124860) chrX 79145395 79145395 A T het . 2 +intergenic ITM2A(dist=522353),TBX22(dist=124853) chrX 79145402 79145402 T G het . 2 +intergenic ITM2A(dist=525742),TBX22(dist=121464) chrX 79148791 79148791 A T het . 2 +intergenic ITM2A(dist=527672),TBX22(dist=119534) chrX 79150721 79150721 G A het . 2 +intergenic ITM2A(dist=528568),TBX22(dist=118638) chrX 79151617 79151617 G T het . 3 +intronic TBX22 chrX 79281397 79281397 T C het . 6 +intergenic TBX22(dist=170938),CHMP1B2P(dist=25782) chrX 79458206 79458206 A T het . 2 +ncRNA_intronic CHMP1B2P chrX 79502920 79502920 C A het . 2 +ncRNA_intronic CHMP1B2P chrX 79509262 79509262 G A het . 2 +ncRNA_intronic CHMP1B2P chrX 79574184 79574184 C A het . 2 +intronic TENT5D chrX 79673679 79673679 T C het . 3 +intronic TENT5D chrX 79682028 79682028 A T het . 2 +exonic TENT5D chrX 79698593 79698593 C G het . 35 +intergenic TENT5D(dist=126797),BRWD3(dist=97380) chrX 79827607 79827607 A G het . 2 +intergenic TENT5D(dist=128091),BRWD3(dist=96086) chrX 79828901 79828901 A G het . 12 +intergenic TENT5D(dist=134598),BRWD3(dist=89579) chrX 79835408 79835408 T C het . 2 +intergenic TENT5D(dist=204873),BRWD3(dist=19304) chrX 79905683 79905683 C G het . 2 +intronic BRWD3 chrX 79937084 79937084 G A het . 16 +intronic BRWD3 chrX 79937623 79937623 T - het . 22 +exonic BRWD3 chrX 79943569 79943569 T C het . 29 +intronic BRWD3 chrX 79947491 79947491 A - het . 35 +intronic BRWD3 chrX 79951229 79951229 A T het . 9 +intronic BRWD3 chrX 79959279 79959279 C T het . 5 +intronic BRWD3 chrX 79989018 79989018 C G het . 33 +intronic BRWD3 chrX 79989095 79989095 T - het . 12 +intronic BRWD3 chrX 79991591 79991591 A - het . 37 +intronic BRWD3 chrX 79999521 79999521 C G het . 14 +intronic BRWD3 chrX 79999796 79999796 - CAC het . 17 +intronic BRWD3 chrX 80064635 80064635 T C het . 17 +intergenic BRWD3(dist=41792),HMGN5(dist=262175) chrX 80107025 80107025 A G het . 2 +intergenic BRWD3(dist=52747),HMGN5(dist=251220) chrX 80117980 80117980 T G het . 3 +intergenic BRWD3(dist=74768),HMGN5(dist=229199) chrX 80140001 80140001 A G het . 2 +intergenic BRWD3(dist=188221),HMGN5(dist=115746) chrX 80253454 80253454 T C het . 2 +intergenic BRWD3(dist=199357),HMGN5(dist=104610) chrX 80264590 80264590 G A het . 2 +intergenic BRWD3(dist=206242),HMGN5(dist=97725) chrX 80271475 80271475 T C het . 2 +intergenic BRWD3(dist=234323),HMGN5(dist=69644) chrX 80299556 80299556 G A het . 2 +intergenic BRWD3(dist=236834),HMGN5(dist=67133) chrX 80302067 80302067 T C het . 2 +intergenic BRWD3(dist=247261),HMGN5(dist=56706) chrX 80312494 80312494 C A het . 2 +intergenic BRWD3(dist=247775),HMGN5(dist=56192) chrX 80313008 80313008 G C het . 2 +intergenic BRWD3(dist=279270),HMGN5(dist=24697) chrX 80344503 80344503 A G het . 2 +intergenic BRWD3(dist=282460),HMGN5(dist=21507) chrX 80347693 80347693 C G het . 2 +intergenic BRWD3(dist=285665),HMGN5(dist=18302) chrX 80350898 80350898 G A het . 4 +intronic HMGN5 chrX 80406271 80406271 A G het . 2 +intronic SH3BGRL chrX 80550891 80550891 C A het . 2 +intergenic SH3BGRL(dist=118545),NONE(dist=NONE) chrX 80672591 80672591 T C het . 2 +intergenic SH3BGRL(dist=133438),NONE(dist=NONE) chrX 80687484 80687484 C T het . 2 +intergenic SH3BGRL(dist=137809),NONE(dist=NONE) chrX 80691855 80691855 G A het . 3 +intergenic SH3BGRL(dist=143209),NONE(dist=NONE) chrX 80697255 80697255 T G het . 2 +intergenic SH3BGRL(dist=144684),NONE(dist=NONE) chrX 80698730 80698730 T - het . 2 +intergenic SH3BGRL(dist=147661),POU3F4(dist=2061562) chrX 80701707 80701707 A C het . 2 +intergenic SH3BGRL(dist=150146),POU3F4(dist=2059077) chrX 80704192 80704192 C T het . 2 +intergenic SH3BGRL(dist=164327),POU3F4(dist=2044896) chrX 80718373 80718373 A T het . 2 +intergenic SH3BGRL(dist=187717),POU3F4(dist=2021506) chrX 80741763 80741763 A C het . 3 +intergenic SH3BGRL(dist=236852),POU3F4(dist=1972371) chrX 80790898 80790898 C T het . 2 +intergenic SH3BGRL(dist=268461),POU3F4(dist=1940762) chrX 80822507 80822507 C A het . 3 +intergenic SH3BGRL(dist=299669),POU3F4(dist=1909554) chrX 80853715 80853715 C A het . 2 +intergenic SH3BGRL(dist=506780),POU3F4(dist=1702443) chrX 81060826 81060826 T C het . 2 +intergenic SH3BGRL(dist=511785),POU3F4(dist=1697438) chrX 81065831 81065831 A G het . 2 +intergenic SH3BGRL(dist=663996),POU3F4(dist=1545227) chrX 81218042 81218042 A G het . 3 +intergenic SH3BGRL(dist=680371),POU3F4(dist=1528852) chrX 81234417 81234417 C G het . 2 +intergenic SH3BGRL(dist=721397),POU3F4(dist=1487826) chrX 81275443 81275443 A T het . 2 +intergenic SH3BGRL(dist=752341),POU3F4(dist=1456882) chrX 81306387 81306387 G A het . 2 +intergenic SH3BGRL(dist=752895),POU3F4(dist=1456328) chrX 81306941 81306941 A C het . 2 +intergenic SH3BGRL(dist=762946),POU3F4(dist=1446277) chrX 81316992 81316992 A T het . 2 +intergenic SH3BGRL(dist=795738),POU3F4(dist=1413485) chrX 81349784 81349784 G A het . 2 +intergenic SH3BGRL(dist=799350),POU3F4(dist=1409873) chrX 81353396 81353396 T C het . 2 +intergenic SH3BGRL(dist=804597),POU3F4(dist=1404626) chrX 81358643 81358643 C T het . 2 +intergenic SH3BGRL(dist=807509),POU3F4(dist=1401714) chrX 81361555 81361555 T G het . 1 +intergenic SH3BGRL(dist=859393),POU3F4(dist=1349830) chrX 81413439 81413439 A C het . 2 +intergenic SH3BGRL(dist=871789),POU3F4(dist=1337434) chrX 81425835 81425835 A G het . 2 +intergenic SH3BGRL(dist=908660),POU3F4(dist=1300563) chrX 81462706 81462706 C G het . 1 +intergenic SH3BGRL(dist=1000785),POU3F4(dist=1208438) chrX 81554831 81554831 A - het . 2 +intergenic SH3BGRL(dist=1010746),POU3F4(dist=1198477) chrX 81564792 81564792 G A het . 4 +intergenic SH3BGRL(dist=1069043),POU3F4(dist=1140180) chrX 81623089 81623089 C T het . 2 +intergenic SH3BGRL(dist=1082359),POU3F4(dist=1126864) chrX 81636405 81636405 T G het . 2 +intergenic SH3BGRL(dist=1088432),POU3F4(dist=1120791) chrX 81642478 81642478 A G het . 2 +intergenic SH3BGRL(dist=1089266),POU3F4(dist=1119957) chrX 81643312 81643312 C T het . 2 +intergenic SH3BGRL(dist=1117784),POU3F4(dist=1091439) chrX 81671830 81671830 T C het . 2 +intergenic SH3BGRL(dist=1121275),POU3F4(dist=1087948) chrX 81675321 81675321 C A het . 2 +intergenic SH3BGRL(dist=1208237),POU3F4(dist=1000986) chrX 81762283 81762283 T C het . 15 +intergenic SH3BGRL(dist=1397773),POU3F4(dist=811450) chrX 81951819 81951819 G A het . 2 +intergenic SH3BGRL(dist=1463789),POU3F4(dist=745434) chrX 82017835 82017835 A G het . 2 +intergenic SH3BGRL(dist=1523212),POU3F4(dist=686011) chrX 82077258 82077258 T C het . 2 +intergenic SH3BGRL(dist=1536225),POU3F4(dist=672998) chrX 82090271 82090271 A G het . 2 +intergenic SH3BGRL(dist=1551882),POU3F4(dist=657341) chrX 82105928 82105928 G A het . 3 +intergenic SH3BGRL(dist=1588278),POU3F4(dist=620945) chrX 82142324 82142324 A G het . 2 +intergenic SH3BGRL(dist=1612924),POU3F4(dist=596299) chrX 82166970 82166970 T C het . 2 +intergenic SH3BGRL(dist=1617576),POU3F4(dist=591647) chrX 82171622 82171622 T G het . 2 +intergenic SH3BGRL(dist=1630628),POU3F4(dist=578595) chrX 82184674 82184674 A G het . 2 +intergenic SH3BGRL(dist=1650629),POU3F4(dist=558594) chrX 82204675 82204675 T C het . 2 +intergenic SH3BGRL(dist=1651697),POU3F4(dist=557526) chrX 82205743 82205743 T A het . 2 +intergenic SH3BGRL(dist=1672753),POU3F4(dist=536470) chrX 82226799 82226799 T G het . 2 +intergenic SH3BGRL(dist=1672776),POU3F4(dist=536447) chrX 82226822 82226822 A G het . 2 +intergenic SH3BGRL(dist=1677876),POU3F4(dist=531347) chrX 82231922 82231922 - AAAC het . 3 +intergenic SH3BGRL(dist=1699549),POU3F4(dist=509674) chrX 82253595 82253595 T A het . 4 +intergenic SH3BGRL(dist=1699806),POU3F4(dist=509417) chrX 82253852 82253852 T C het . 9 +intergenic SH3BGRL(dist=1706741),POU3F4(dist=502482) chrX 82260787 82260787 G A het . 2 +intergenic SH3BGRL(dist=1718718),POU3F4(dist=490505) chrX 82272764 82272764 A - het . 3 +intergenic SH3BGRL(dist=1718744),POU3F4(dist=490479) chrX 82272790 82272790 G T het . 3 +intergenic SH3BGRL(dist=1720675),POU3F4(dist=488548) chrX 82274721 82274721 C T het . 2 +intergenic SH3BGRL(dist=1843234),POU3F4(dist=365989) chrX 82397280 82397280 T A het . 2 +intergenic SH3BGRL(dist=1855461),POU3F4(dist=353762) chrX 82409507 82409507 A - het . 2 +intergenic SH3BGRL(dist=1855567),POU3F4(dist=353656) chrX 82409613 82409613 A - het . 2 +intergenic SH3BGRL(dist=1891880),POU3F4(dist=317343) chrX 82445926 82445926 T G het . 2 +intergenic SH3BGRL(dist=1927800),POU3F4(dist=281423) chrX 82481846 82481846 G A het . 2 +intergenic SH3BGRL(dist=1951900),POU3F4(dist=257323) chrX 82505946 82505946 A G het . 2 +intergenic NONE(dist=NONE),POU3F4(dist=157916) chrX 82605353 82605353 G A het . 2 +intergenic NONE(dist=NONE),POU3F4(dist=151236) chrX 82612033 82612033 G A het . 2 +intergenic NONE(dist=NONE),POU3F4(dist=142653) chrX 82620616 82620616 T C het . 2 +intergenic NONE(dist=NONE),POU3F4(dist=111356) chrX 82651913 82651913 - AC het . 2 +intergenic NONE(dist=NONE),POU3F4(dist=94905) chrX 82668364 82668364 T A het . 2 +intergenic NONE(dist=NONE),POU3F4(dist=61500) chrX 82701769 82701769 G A het . 2 +intergenic NONE(dist=NONE),POU3F4(dist=56497) chrX 82706772 82706772 C T het . 3 +exonic POU3F4 chrX 82764040 82764040 A G het . 22 +exonic POU3F4 chrX 82764042 82764042 G C het . 22 +intergenic POU3F4(dist=160785),CYLC1(dist=190574) chrX 82925560 82925560 G A het . 3 +intergenic POU3F4(dist=199672),CYLC1(dist=151687) chrX 82964447 82964447 A G het . 2 +intronic CYLC1 chrX 83119939 83119939 T C het . 3 +intronic CYLC1 chrX 83124802 83124802 A T het . 9 +intergenic CYLC1(dist=47990),RPS6KA6(dist=123656) chrX 83189698 83189698 G A het . 2 +intergenic CYLC1(dist=68179),RPS6KA6(dist=103467) chrX 83209887 83209887 G C het . 2 +intergenic CYLC1(dist=135126),RPS6KA6(dist=36520) chrX 83276834 83276834 G A het . 2 +intronic RPS6KA6 chrX 83319458 83319458 A - het . 6 +intronic RPS6KA6 chrX 83352970 83352970 T C het . 7 +intronic RPS6KA6 chrX 83403178 83403178 G C het . 14 +intergenic RPS6KA6(dist=17251),MIR548I4(dist=20566) chrX 83460194 83460194 G C het . 3 +intergenic MIR548I4(dist=50140),HDX(dist=41906) chrX 83530976 83530976 G A het . 3 +intergenic MIR548I4(dist=51707),HDX(dist=40339) chrX 83532543 83532543 C T het . 2 +intronic HDX chrX 83643652 83643652 C T het . 2 +intronic HDX chrX 83658232 83658241 AGCATTAAAC - het . 2 +exonic HDX chrX 83723541 83723541 A G het . 5 +intronic HDX chrX 83730045 83730045 G A het . 2 +intronic HDX chrX 83751223 83751223 G A het . 2 +intergenic HDX(dist=13524),UBE2DNL(dist=418146) chrX 83771011 83771011 T G het . 2 +intergenic HDX(dist=13544),UBE2DNL(dist=418126) chrX 83771031 83771031 T A het . 2 +intergenic HDX(dist=15336),UBE2DNL(dist=416334) chrX 83772823 83772823 T C het . 2 +intergenic HDX(dist=19818),UBE2DNL(dist=411852) chrX 83777305 83777305 C T het . 2 +intergenic HDX(dist=24457),UBE2DNL(dist=407213) chrX 83781944 83781944 T A het . 2 +intergenic HDX(dist=25952),UBE2DNL(dist=405718) chrX 83783439 83783439 T G het . 2 +intergenic HDX(dist=25983),UBE2DNL(dist=405687) chrX 83783470 83783470 T C het . 2 +intergenic HDX(dist=26775),UBE2DNL(dist=404895) chrX 83784262 83784262 T C het . 2 +intergenic HDX(dist=27598),UBE2DNL(dist=404072) chrX 83785085 83785085 - A het . 2 +intergenic HDX(dist=29631),UBE2DNL(dist=402039) chrX 83787118 83787118 G A het . 2 +intergenic HDX(dist=31304),UBE2DNL(dist=400366) chrX 83788791 83788791 G A het . 2 +intergenic HDX(dist=33744),UBE2DNL(dist=397926) chrX 83791231 83791231 T G het . 3 +intergenic HDX(dist=34992),UBE2DNL(dist=396678) chrX 83792479 83792479 - C het . 2 +intergenic HDX(dist=36752),UBE2DNL(dist=394918) chrX 83794239 83794239 T G het . 2 +intergenic HDX(dist=38010),UBE2DNL(dist=393660) chrX 83795497 83795497 - C het . 2 +intergenic HDX(dist=48421),UBE2DNL(dist=383249) chrX 83805908 83805908 T C het . 2 +intergenic HDX(dist=131264),UBE2DNL(dist=300406) chrX 83888751 83888751 C T het . 2 +intergenic HDX(dist=136094),UBE2DNL(dist=295576) chrX 83893581 83893581 T C het . 3 +intergenic HDX(dist=179750),UBE2DNL(dist=251920) chrX 83937237 83937237 T C het . 2 +intergenic HDX(dist=181311),UBE2DNL(dist=250359) chrX 83938798 83938798 G A het . 2 +intergenic HDX(dist=314388),UBE2DNL(dist=117282) chrX 84071875 84071875 T C het . 2 +intergenic HDX(dist=341793),UBE2DNL(dist=89877) chrX 84099280 84099280 A G het . 2 +intergenic HDX(dist=387704),UBE2DNL(dist=43966) chrX 84145191 84145191 C T het . 2 +intergenic HDX(dist=415723),UBE2DNL(dist=15947) chrX 84173210 84173210 C T het . 2 +intergenic UBE2DNL(dist=21384),APOOL(dist=47618) chrX 84211280 84211280 - TGAC het . 2 +intergenic UBE2DNL(dist=21396),APOOL(dist=47606) chrX 84211292 84211292 T A het . 2 +intergenic UBE2DNL(dist=35952),APOOL(dist=33050) chrX 84225848 84225848 G A het . 2 +intergenic UBE2DNL(dist=35999),APOOL(dist=33003) chrX 84225895 84225895 A T het . 4 +intergenic UBE2DNL(dist=38896),APOOL(dist=30106) chrX 84228792 84228792 C T het . 3 +intergenic UBE2DNL(dist=54318),APOOL(dist=14684) chrX 84244214 84244214 T C het . 3 +upstream APOOL(dist=55) chrX 84258843 84258843 C G het . 6 +intronic APOOL chrX 84259051 84259051 T G het . 4 +intronic APOOL chrX 84336858 84336858 G A het . 2 +intronic SATL1 chrX 84349807 84349807 G A het . 11 +intronic SATL1 chrX 84350010 84350010 A G het . 23 +intronic SATL1 chrX 84350128 84350128 G T het . 12 +intronic SATL1 chrX 84354146 84354146 A G het . 2 +intronic SATL1 chrX 84355227 84355227 - A het . 8 +intronic SATL1 chrX 84356943 84356943 A G het . 2 +intronic SATL1 chrX 84358864 84358864 C T het . 27 +exonic SATL1 chrX 84363140 84363140 A G het . 19 +intergenic SATL1(dist=17135),LOC101928128(dist=84603) chrX 84381109 84381109 A G het . 2 +intergenic LOC101928128(dist=1425),ZNF711(dist=23277) chrX 84475720 84475720 C A het . 3 +UTR5 ZNF711(NM_021998:c.-3450_-3449insGGCGGCGGCGGC,NM_001330574:c.-3450_-3449insGGCGGCGGCGGC) chrX 84499129 84499129 - GGCGGCGGCGGC het . 2 +UTR3 POF1B(NM_024921:c.*44T>G) chrX 84534383 84534383 A C het . 15 +exonic POF1B chrX 84563135 84563135 T A het . 8 +exonic POF1B chrX 84600873 84600873 C G het . 10 +intergenic POF1B(dist=37968),MIR1321(dist=418069) chrX 84672716 84672716 G A het . 2 +intergenic POF1B(dist=92281),MIR1321(dist=363756) chrX 84727029 84727029 C T het . 2 +intergenic POF1B(dist=108549),MIR1321(dist=347488) chrX 84743297 84743297 T C het . 2 +intergenic POF1B(dist=183532),MIR1321(dist=272505) chrX 84818280 84818280 T C het . 2 +intergenic POF1B(dist=210212),MIR1321(dist=245825) chrX 84844960 84844960 C A het . 2 +intergenic POF1B(dist=226490),MIR1321(dist=229547) chrX 84861238 84861238 G A het . 2 +intergenic POF1B(dist=237846),MIR1321(dist=218191) chrX 84872594 84872594 G A het . 3 +intergenic POF1B(dist=274453),MIR1321(dist=181584) chrX 84909201 84909201 C T het . 2 +intergenic POF1B(dist=276851),MIR1321(dist=179186) chrX 84911599 84911599 G A het . 2 +intergenic POF1B(dist=291869),MIR1321(dist=164168) chrX 84926617 84926617 A T het . 2 +intergenic POF1B(dist=299290),MIR1321(dist=156747) chrX 84934038 84934038 G T het . 3 +intergenic POF1B(dist=357016),MIR1321(dist=99021) chrX 84991764 84991764 T G het . 2 +intergenic MIR1321(dist=17975),CHM(dist=7347) chrX 85108838 85108838 T C het . 2 +exonic CHM chrX 85133982 85133982 C A het . 44 +intronic CHM chrX 85134074 85134074 A - het . 33 +intronic CHM chrX 85210562 85210562 G A het . 2 +intronic CHM chrX 85212626 85212626 G - het . 3 +intronic CHM chrX 85213190 85213190 C T het . 4 +exonic CHM chrX 85219021 85219021 T C het . 24 +intronic CHM chrX 85226669 85226669 T G het . 3 +intronic CHM chrX 85233511 85233511 A G het . 3 +intronic CHM chrX 85236825 85236826 AA - het . 17 +intronic CHM chrX 85268542 85268542 C T het . 2 +intronic DACH2 chrX 85532690 85532690 G A het . 4 +intronic DACH2 chrX 85539420 85539420 C T het . 2 +intronic DACH2 chrX 85539476 85539476 G A het . 2 +intronic DACH2 chrX 85541111 85541111 C A het . 2 +intronic DACH2 chrX 85541717 85541717 G A het . 2 +intronic DACH2 chrX 85542378 85542378 A T het . 3 +intronic DACH2 chrX 85564659 85564659 A G het . 2 +intronic DACH2 chrX 85615089 85615089 G A het . 2 +intronic DACH2 chrX 85615126 85615126 C T het . 2 +intronic DACH2 chrX 85615283 85615283 G C het . 1 +intronic DACH2 chrX 85616883 85616883 C A het . 3 +intronic DACH2 chrX 85618671 85618671 T A het . 2 +intronic DACH2 chrX 85639348 85639348 T C het . 2 +intronic DACH2 chrX 85680399 85680399 C T het . 2 +intronic DACH2 chrX 85701212 85701212 A G het . 2 +intronic DACH2 chrX 85706700 85706700 G T het . 2 +intronic DACH2 chrX 85751361 85751361 T C het . 2 +intronic DACH2 chrX 85953246 85953246 G A het . 2 +intronic DACH2 chrX 85957319 85957319 T C het . 2 +intronic DACH2 chrX 85969403 85969403 A C het . 5 +intronic DACH2 chrX 85971578 85971578 T C het . 2 +intronic DACH2 chrX 86053680 86053680 C T het . 2 +intronic DACH2 chrX 86054121 86054121 T A het . 13 +intronic DACH2 chrX 86054138 86054138 G C het . 12 +intronic DACH2 chrX 86057847 86057847 C A het . 2 +intronic DACH2 chrX 86064387 86064387 C T het . 2 +intronic DACH2 chrX 86070055 86070055 A T het . 2 +intronic DACH2 chrX 86071151 86071151 C G het . 3 +UTR3 DACH2(NM_001139514:c.*319A>T,NM_053281:c.*227A>T,NM_001139515:c.*227A>T) chrX 86087385 86087385 A T het . 2 +intergenic DACH2(dist=12811),KLHL4(dist=672299) chrX 86100416 86100416 G A het . 3 +intergenic DACH2(dist=42477),KLHL4(dist=642633) chrX 86130082 86130082 T C het . 2 +intergenic DACH2(dist=124614),KLHL4(dist=560496) chrX 86212219 86212219 A G het . 2 +intergenic DACH2(dist=135500),KLHL4(dist=549610) chrX 86223105 86223105 T G het . 3 +intergenic DACH2(dist=175595),KLHL4(dist=509514) chrX 86263200 86263201 AA CG het . 2 +intergenic DACH2(dist=203138),KLHL4(dist=481972) chrX 86290743 86290743 G A het . 3 +intergenic DACH2(dist=222693),KLHL4(dist=462417) chrX 86310298 86310298 A G het . 2 +intergenic DACH2(dist=248988),KLHL4(dist=436122) chrX 86336593 86336593 C A het . 2 +intergenic DACH2(dist=257607),KLHL4(dist=427503) chrX 86345212 86345212 T C het . 2 +intergenic DACH2(dist=261503),KLHL4(dist=423607) chrX 86349108 86349108 A C het . 2 +intergenic DACH2(dist=262706),KLHL4(dist=422404) chrX 86350311 86350311 C T het . 2 +intergenic DACH2(dist=263233),KLHL4(dist=421877) chrX 86350838 86350838 C T het . 2 +intergenic DACH2(dist=263773),KLHL4(dist=421333) chrX 86351378 86351382 TGTAA - het . 2 +intergenic DACH2(dist=290030),KLHL4(dist=395080) chrX 86377635 86377635 T C het . 2 +intergenic DACH2(dist=293298),KLHL4(dist=391812) chrX 86380903 86380903 G A het . 2 +intergenic DACH2(dist=314240),KLHL4(dist=370870) chrX 86401845 86401845 C A het . 4 +intergenic DACH2(dist=314302),KLHL4(dist=370808) chrX 86401907 86401907 T C het . 3 +intergenic DACH2(dist=332574),KLHL4(dist=352536) chrX 86420179 86420179 C A het . 2 +intergenic DACH2(dist=336013),KLHL4(dist=349097) chrX 86423618 86423618 C T het . 3 +intergenic DACH2(dist=354134),KLHL4(dist=330976) chrX 86441739 86441739 G A het . 2 +intergenic DACH2(dist=357508),KLHL4(dist=327602) chrX 86445113 86445113 - T het . 2 +intergenic DACH2(dist=362698),KLHL4(dist=322412) chrX 86450303 86450303 G A het . 2 +intergenic DACH2(dist=372390),KLHL4(dist=312720) chrX 86459995 86459995 - AA het . 2 +intergenic DACH2(dist=381882),KLHL4(dist=303228) chrX 86469487 86469487 C A het . 3 +intergenic DACH2(dist=382432),KLHL4(dist=302678) chrX 86470037 86470037 T C het . 1 +intergenic DACH2(dist=382451),KLHL4(dist=302659) chrX 86470056 86470056 C T het . 2 +intergenic DACH2(dist=393550),KLHL4(dist=291560) chrX 86481155 86481155 T C het . 2 +intergenic DACH2(dist=407976),KLHL4(dist=277134) chrX 86495581 86495581 G C het . 3 +intergenic DACH2(dist=410073),KLHL4(dist=275037) chrX 86497678 86497678 G A het . 3 +intergenic DACH2(dist=412293),KLHL4(dist=272817) chrX 86499898 86499898 T G het . 2 +intergenic DACH2(dist=414956),KLHL4(dist=270154) chrX 86502561 86502561 C T het . 2 +intergenic DACH2(dist=423756),KLHL4(dist=261354) chrX 86511361 86511361 A C het . 2 +intergenic DACH2(dist=433342),KLHL4(dist=251768) chrX 86520947 86520947 T C het . 2 +intergenic DACH2(dist=447526),KLHL4(dist=237584) chrX 86535131 86535131 C T het . 2 +intergenic DACH2(dist=483151),KLHL4(dist=201959) chrX 86570756 86570756 T A het . 2 +intergenic DACH2(dist=488926),KLHL4(dist=196184) chrX 86576531 86576531 G C het . 2 +intergenic DACH2(dist=534453),KLHL4(dist=150657) chrX 86622058 86622058 G A het . 2 +intergenic DACH2(dist=627436),KLHL4(dist=57674) chrX 86715041 86715041 - C het . 2 +intergenic DACH2(dist=627438),KLHL4(dist=57672) chrX 86715043 86715043 T A het . 2 +intergenic DACH2(dist=634666),KLHL4(dist=50444) chrX 86722271 86722271 - TC het . 3 +intergenic DACH2(dist=663160),KLHL4(dist=21950) chrX 86750765 86750765 A G het . 3 +intronic KLHL4 chrX 86783645 86783645 G T het . 2 +intronic KLHL4 chrX 86861358 86861358 G T het . 2 +intronic KLHL4 chrX 86869103 86869103 A G het . 4 +intronic KLHL4 chrX 86869348 86869348 C A het . 18 +intronic KLHL4 chrX 86872790 86872790 C T het . 7 +intronic KLHL4 chrX 86872866 86872866 G T het . 6 +intronic KLHL4 chrX 86881652 86881652 A T het . 2 +intronic KLHL4 chrX 86883282 86883282 T C het . 2 +intronic KLHL4 chrX 86883327 86883327 G A het . 2 +intronic KLHL4 chrX 86883339 86883339 - C het . 3 +intronic KLHL4 chrX 86883341 86883341 T G het . 3 +intronic KLHL4 chrX 86887124 86887124 A G het . 4 +exonic KLHL4 chrX 86887244 86887244 C T het . 18 +intronic KLHL4 chrX 86894010 86894010 G A het . 3 +intronic KLHL4 chrX 86894875 86894875 C A het . 4 +intronic KLHL4 chrX 86895493 86895493 T G het . 2 +intronic KLHL4 chrX 86896176 86896176 A G het . 2 +intergenic KLHL4(dist=53674),CPXCR1(dist=1023502) chrX 86978724 86978724 T A het . 2 +intergenic KLHL4(dist=340871),CPXCR1(dist=736305) chrX 87265921 87265921 A G het . 2 +intergenic KLHL4(dist=513666),CPXCR1(dist=563510) chrX 87438716 87438716 G C het . 2 +intergenic KLHL4(dist=513672),CPXCR1(dist=563504) chrX 87438722 87438722 T A het . 2 +intergenic KLHL4(dist=566559),CPXCR1(dist=510617) chrX 87491609 87491609 T C het . 2 +intergenic KLHL4(dist=575339),CPXCR1(dist=501837) chrX 87500389 87500389 T G het . 2 +intergenic KLHL4(dist=581420),CPXCR1(dist=495756) chrX 87506470 87506470 G A het . 2 +intergenic KLHL4(dist=584208),CPXCR1(dist=492968) chrX 87509258 87509258 G T het . 2 +intergenic KLHL4(dist=621710),CPXCR1(dist=455466) chrX 87546760 87546760 G A het . 3 +intergenic KLHL4(dist=624755),CPXCR1(dist=452421) chrX 87549805 87549805 T - het . 2 +intergenic KLHL4(dist=624766),CPXCR1(dist=452410) chrX 87549816 87549816 T C het . 2 +intergenic KLHL4(dist=631131),CPXCR1(dist=446045) chrX 87556181 87556181 G A het . 3 +intergenic KLHL4(dist=632698),CPXCR1(dist=444478) chrX 87557748 87557748 T A het . 2 +intergenic KLHL4(dist=644583),CPXCR1(dist=432593) chrX 87569633 87569633 - T het . 2 +intergenic KLHL4(dist=645068),CPXCR1(dist=432108) chrX 87570118 87570118 A C het . 3 +intergenic KLHL4(dist=661422),CPXCR1(dist=415754) chrX 87586472 87586472 G T het . 2 +intergenic KLHL4(dist=669273),CPXCR1(dist=407903) chrX 87594323 87594323 T C het . 2 +intergenic KLHL4(dist=676342),CPXCR1(dist=400817) chrX 87601392 87601409 ATACCACAGGGAAATGAG - het . 2 +intergenic KLHL4(dist=677402),CPXCR1(dist=399774) chrX 87602452 87602452 G A het . 2 +intergenic KLHL4(dist=685377),CPXCR1(dist=391799) chrX 87610427 87610427 G A het . 2 +intergenic KLHL4(dist=689344),CPXCR1(dist=387832) chrX 87614394 87614394 G A het . 2 +intergenic KLHL4(dist=689481),CPXCR1(dist=387695) chrX 87614531 87614531 A G het . 2 +intergenic KLHL4(dist=689889),CPXCR1(dist=387287) chrX 87614939 87614939 C A het . 2 +intergenic KLHL4(dist=709162),CPXCR1(dist=368014) chrX 87634212 87634212 G A het . 2 +intergenic KLHL4(dist=709941),CPXCR1(dist=367235) chrX 87634991 87634991 T G het . 2 +intergenic KLHL4(dist=710492),CPXCR1(dist=366684) chrX 87635542 87635542 G C het . 1 +intergenic KLHL4(dist=717272),CPXCR1(dist=359904) chrX 87642322 87642322 T C het . 2 +intergenic KLHL4(dist=720395),CPXCR1(dist=356781) chrX 87645445 87645445 T G het . 2 +intergenic KLHL4(dist=748344),CPXCR1(dist=328832) chrX 87673394 87673394 G T het . 2 +intergenic KLHL4(dist=755609),CPXCR1(dist=321567) chrX 87680659 87680659 T C het . 3 +intergenic KLHL4(dist=756720),CPXCR1(dist=320456) chrX 87681770 87681770 T C het . 3 +intergenic KLHL4(dist=787876),CPXCR1(dist=289300) chrX 87712926 87712926 A G het . 2 +intergenic KLHL4(dist=797333),CPXCR1(dist=279843) chrX 87722383 87722383 G T het . 2 +intergenic KLHL4(dist=813362),CPXCR1(dist=263814) chrX 87738412 87738412 C T het . 2 +intergenic KLHL4(dist=813603),CPXCR1(dist=263573) chrX 87738653 87738653 G A het . 2 +intergenic KLHL4(dist=813634),CPXCR1(dist=263542) chrX 87738684 87738684 A G het . 2 +intergenic KLHL4(dist=840466),CPXCR1(dist=236710) chrX 87765516 87765516 G T het . 3 +intergenic KLHL4(dist=848957),CPXCR1(dist=228219) chrX 87774007 87774007 C T het . 2 +intergenic KLHL4(dist=957501),CPXCR1(dist=119675) chrX 87882551 87882551 G T het . 2 +intronic CPXCR1 chrX 88007526 88007529 TTTA - het . 3 +UTR3 CPXCR1(NM_001184771:c.*1A>G,NM_033048:c.*1A>G) chrX 88009322 88009322 A G het . 5 +intergenic CPXCR1(dist=18959),TGIF2LX(dist=1148196) chrX 88028744 88028744 T C het . 2 +intergenic CPXCR1(dist=88736),TGIF2LX(dist=1078419) chrX 88098521 88098521 - G het . 2 +intergenic CPXCR1(dist=116845),TGIF2LX(dist=1050310) chrX 88126630 88126630 C T het . 2 +intergenic CPXCR1(dist=170232),TGIF2LX(dist=996923) chrX 88180017 88180017 A G het . 2 +intergenic CPXCR1(dist=190093),TGIF2LX(dist=977062) chrX 88199878 88199878 A G het . 2 +intergenic CPXCR1(dist=228058),TGIF2LX(dist=939097) chrX 88237843 88237843 C T het . 2 +intergenic CPXCR1(dist=266775),TGIF2LX(dist=900380) chrX 88276560 88276560 G A het . 2 +intergenic CPXCR1(dist=324125),TGIF2LX(dist=843030) chrX 88333910 88333910 G A het . 2 +intergenic CPXCR1(dist=366702),TGIF2LX(dist=800453) chrX 88376487 88376487 A G het . 3 +intergenic CPXCR1(dist=430796),TGIF2LX(dist=736359) chrX 88440581 88440581 C T het . 3 +intergenic CPXCR1(dist=439863),TGIF2LX(dist=727292) chrX 88449648 88449648 T C het . 2 +intergenic CPXCR1(dist=978822),TGIF2LX(dist=188333) chrX 88988607 88988607 G A het . 2 +intergenic CPXCR1(dist=983463),TGIF2LX(dist=183692) chrX 88993248 88993248 G T het . 14 +intergenic CPXCR1(dist=995393),TGIF2LX(dist=171762) chrX 89005178 89005178 C T het . 3 +intergenic CPXCR1(dist=1133052),TGIF2LX(dist=34103) chrX 89142837 89142837 T G het . 2 +intergenic CPXCR1(dist=1156231),TGIF2LX(dist=10924) chrX 89166016 89166016 G A het . 3 +exonic TGIF2LX chrX 89177673 89177673 G A het . 25 +intergenic TGIF2LX(dist=85152),PABPC5-AS1(dist=1406868) chrX 89263034 89263034 G A het . 2 +intergenic TGIF2LX(dist=112412),PABPC5-AS1(dist=1379608) chrX 89290294 89290294 - AT het . 6 +intergenic TGIF2LX(dist=116775),PABPC5-AS1(dist=1375245) chrX 89294657 89294657 T - het . 11 +intergenic TGIF2LX(dist=189828),PABPC5-AS1(dist=1302192) chrX 89367710 89367710 G T het . 16 +intergenic TGIF2LX(dist=189928),PABPC5-AS1(dist=1302092) chrX 89367810 89367810 A C het . 16 +intergenic TGIF2LX(dist=190354),PABPC5-AS1(dist=1301666) chrX 89368236 89368236 G A het . 9 +intergenic TGIF2LX(dist=190724),PABPC5-AS1(dist=1301296) chrX 89368606 89368606 G T het . 14 +intergenic TGIF2LX(dist=214374),PABPC5-AS1(dist=1277646) chrX 89392256 89392256 T A het . 2 +intergenic TGIF2LX(dist=230987),PABPC5-AS1(dist=1261033) chrX 89408869 89408869 C - het . 2 +intergenic TGIF2LX(dist=791533),PABPC5-AS1(dist=700487) chrX 89969415 89969415 - A het . 3 +intergenic TGIF2LX(dist=1073726),PABPC5-AS1(dist=418294) chrX 90251608 90251608 G A het . 3 +intergenic TGIF2LX(dist=1127214),PABPC5-AS1(dist=364804) chrX 90305096 90305098 TTT - het . 2 +intergenic TGIF2LX(dist=1174358),PABPC5-AS1(dist=317662) chrX 90352240 90352240 T C het . 2 +intergenic TGIF2LX(dist=1403839),PABPC5-AS1(dist=88181) chrX 90581721 90581721 T C het . 2 +intergenic TGIF2LX(dist=1485094),PABPC5-AS1(dist=6926) chrX 90662976 90662976 C T het . 2 +intergenic PABPC5(dist=261475),PCDH11X(dist=135402) chrX 90955058 90955058 T C het . 2 +intergenic PABPC5(dist=278753),PCDH11X(dist=118124) chrX 90972336 90972336 A G het . 1 +intergenic PABPC5(dist=280248),PCDH11X(dist=116629) chrX 90973831 90973831 C A het . 2 +intergenic PABPC5(dist=280290),PCDH11X(dist=116587) chrX 90973873 90973873 C A het . 2 +intergenic PABPC5(dist=282751),PCDH11X(dist=114126) chrX 90976334 90976334 G A het . 2 +intergenic PABPC5(dist=368653),PCDH11X(dist=28224) chrX 91062236 91062236 T C het . 2 +intergenic PABPC5(dist=372664),PCDH11X(dist=24213) chrX 91066247 91066247 G A het . 11 +intronic PCDH11X chrX 91402809 91402809 C T het . 2 +intronic PCDH11X chrX 91437295 91437295 T A het . 2 +intronic PCDH11X chrX 91437302 91437302 T C het . 2 +intronic PCDH11X chrX 91456621 91456621 G T het . 4 +intronic PCDH11X chrX 91458977 91458977 A C het . 2 +intronic PCDH11X chrX 91479077 91479077 A G het . 2 +intronic PCDH11X chrX 91487808 91487808 T C het . 3 +intronic PCDH11X chrX 91513281 91513281 G C het . 3 +intronic PCDH11X chrX 91518012 91518014 AAA - het . 12 +intronic PCDH11X chrX 91675436 91675436 A C het . 6 +intronic PCDH11X chrX 91680571 91680571 C G het . 2 +intronic PCDH11X chrX 91715232 91715232 T C het . 10 +intergenic PCDH11X(dist=73388),MIR4454(dist=128235) chrX 91951616 91951616 C T het . 2 +intergenic MIR4454(dist=165038),NAP1L3(dist=680985) chrX 92244940 92244940 C G het . 2 +intergenic MIR4454(dist=251552),NAP1L3(dist=594471) chrX 92331454 92331454 - A het . 2 +intergenic MIR4454(dist=316630),NAP1L3(dist=529393) chrX 92396532 92396532 C T het . 5 +intergenic MIR4454(dist=336990),NAP1L3(dist=509033) chrX 92416892 92416892 G T het . 2 +intergenic MIR4454(dist=437622),NAP1L3(dist=408401) chrX 92517524 92517524 C T het . 2 +intergenic MIR4454(dist=444362),NAP1L3(dist=401661) chrX 92524264 92524264 C T het . 2 +intergenic MIR4454(dist=447723),NAP1L3(dist=398300) chrX 92527625 92527625 T C het . 3 +intergenic MIR4454(dist=452191),NAP1L3(dist=393832) chrX 92532093 92532093 T C het . 2 +intergenic MIR4454(dist=463194),NAP1L3(dist=382829) chrX 92543096 92543096 T C het . 24 +intergenic MIR4454(dist=463519),NAP1L3(dist=382504) chrX 92543421 92543421 T C het . 25 +intergenic MIR4454(dist=463630),NAP1L3(dist=382393) chrX 92543532 92543532 C A het . 25 +intergenic MIR4454(dist=463911),NAP1L3(dist=382112) chrX 92543813 92543813 T C het . 6 +intergenic MIR4454(dist=464495),NAP1L3(dist=381528) chrX 92544397 92544397 G T het . 11 +intergenic MIR4454(dist=464633),NAP1L3(dist=381390) chrX 92544535 92544535 C T het . 10 +intergenic MIR4454(dist=496459),NAP1L3(dist=349564) chrX 92576361 92576361 C T het . 3 +intergenic MIR4454(dist=516287),NAP1L3(dist=329736) chrX 92596189 92596189 T C het . 11 +intergenic MIR4454(dist=601794),NAP1L3(dist=244229) chrX 92681696 92681696 T C het . 2 +intergenic MIR4454(dist=645637),NAP1L3(dist=200386) chrX 92725539 92725539 C T het . 2 +intergenic MIR4454(dist=668822),NAP1L3(dist=177201) chrX 92748724 92748724 - C het . 7 +intergenic MIR4454(dist=749588),NAP1L3(dist=96435) chrX 92829490 92829490 A - het . 4 +intergenic MIR4454(dist=772845),NAP1L3(dist=73178) chrX 92852747 92852747 A G het . 5 +intergenic MIR4454(dist=783729),NAP1L3(dist=62294) chrX 92863631 92863631 A - het . 2 +intergenic MIR4454(dist=836749),NAP1L3(dist=9274) chrX 92916651 92916651 G A het . 3 +exonic NAP1L3 chrX 92927634 92927634 G C het . 37 +exonic FAM133A chrX 92964617 92964617 G A het . 26 +intergenic FAM133A(dist=242798),MIR548M(dist=1108069) chrX 93210071 93210071 T A het . 1 +intergenic FAM133A(dist=246818),MIR548M(dist=1104049) chrX 93214091 93214091 A T het . 2 +intergenic FAM133A(dist=248466),MIR548M(dist=1102401) chrX 93215739 93215739 G A het . 2 +intergenic FAM133A(dist=352621),MIR548M(dist=998246) chrX 93319894 93319894 G A het . 3 +intergenic FAM133A(dist=393497),MIR548M(dist=957370) chrX 93360770 93360770 C T het . 2 +intergenic FAM133A(dist=417498),MIR548M(dist=933369) chrX 93384771 93384771 G A het . 2 +intergenic FAM133A(dist=548673),MIR548M(dist=802194) chrX 93515946 93515946 G A het . 2 +intergenic FAM133A(dist=562631),MIR548M(dist=788236) chrX 93529904 93529904 A G het . 2 +intergenic FAM133A(dist=562636),MIR548M(dist=788231) chrX 93529909 93529909 T C het . 2 +intergenic FAM133A(dist=587315),MIR548M(dist=763552) chrX 93554588 93554588 T C het . 2 +intergenic FAM133A(dist=708257),MIR548M(dist=642610) chrX 93675530 93675530 G C het . 4 +intergenic FAM133A(dist=731301),MIR548M(dist=619566) chrX 93698574 93698574 T C het . 2 +intergenic FAM133A(dist=756001),MIR548M(dist=594866) chrX 93723274 93723274 C T het . 2 +intergenic FAM133A(dist=758445),MIR548M(dist=592422) chrX 93725718 93725718 A T het . 3 +intergenic FAM133A(dist=769167),MIR548M(dist=581700) chrX 93736440 93736440 G T het . 2 +intergenic FAM133A(dist=817755),MIR548M(dist=533112) chrX 93785028 93785028 - A het . 2 +intergenic FAM133A(dist=922426),MIR548M(dist=428441) chrX 93889699 93889699 T C het . 2 +intergenic FAM133A(dist=923138),MIR548M(dist=427729) chrX 93890411 93890411 A G het . 2 +intergenic FAM133A(dist=929833),MIR548M(dist=421034) chrX 93897106 93897106 C T het . 2 +intergenic FAM133A(dist=930163),MIR548M(dist=420704) chrX 93897436 93897436 C A het . 2 +intergenic FAM133A(dist=1083437),MIR548M(dist=267430) chrX 94050710 94050710 T G het . 2 +intergenic FAM133A(dist=1105468),MIR548M(dist=245399) chrX 94072741 94072741 T C het . 2 +intergenic FAM133A(dist=1145003),MIR548M(dist=205864) chrX 94112276 94112276 A T het . 2 +intergenic FAM133A(dist=1145036),MIR548M(dist=205831) chrX 94112309 94112309 C T het . 2 +intergenic FAM133A(dist=1160274),MIR548M(dist=190593) chrX 94127547 94127547 A G het . 2 +intergenic FAM133A(dist=1225795),MIR548M(dist=125072) chrX 94193068 94193068 G A het . 3 +intergenic FAM133A(dist=1264905),MIR548M(dist=85962) chrX 94232178 94232178 A G het . 2 +intergenic FAM133A(dist=1298722),MIR548M(dist=52145) chrX 94265995 94265995 G T het . 2 +intergenic FAM133A(dist=1334755),MIR548M(dist=16112) chrX 94302028 94302028 G A het . 1 +intergenic MIR548M(dist=1733),BRDTP1(dist=1272127) chrX 94319958 94319958 A C het . 2 +intergenic MIR548M(dist=146771),BRDTP1(dist=1127089) chrX 94464996 94464996 G A het . 3 +intergenic MIR548M(dist=265234),BRDTP1(dist=1008626) chrX 94583459 94583459 C G het . 2 +intergenic MIR548M(dist=275895),BRDTP1(dist=997965) chrX 94594120 94594120 T C het . 3 +intergenic MIR548M(dist=301962),BRDTP1(dist=971898) chrX 94620187 94620187 G A het . 3 +intergenic MIR548M(dist=436967),BRDTP1(dist=836893) chrX 94755192 94755192 G A het . 15 +intergenic MIR548M(dist=542776),BRDTP1(dist=731084) chrX 94861001 94861001 C A het . 2 +intergenic MIR548M(dist=676155),BRDTP1(dist=597705) chrX 94994380 94994380 A G het . 2 +intergenic MIR548M(dist=699237),BRDTP1(dist=574623) chrX 95017462 95017462 A G het . 2 +intergenic MIR548M(dist=701473),BRDTP1(dist=572387) chrX 95019698 95019698 - T het . 2 +intergenic MIR548M(dist=701707),BRDTP1(dist=572153) chrX 95019932 95019932 T A het . 2 +intergenic MIR548M(dist=719896),BRDTP1(dist=553964) chrX 95038121 95038121 C T het . 2 +intergenic MIR548M(dist=729843),BRDTP1(dist=544017) chrX 95048068 95048068 C T het . 2 +intergenic MIR548M(dist=736253),BRDTP1(dist=537607) chrX 95054478 95054478 T A het . 2 +intergenic MIR548M(dist=739717),BRDTP1(dist=534143) chrX 95057942 95057942 G A het . 3 +intergenic MIR548M(dist=746215),BRDTP1(dist=527645) chrX 95064440 95064440 C G het . 3 +intergenic MIR548M(dist=750277),BRDTP1(dist=523582) chrX 95068502 95068503 AA - het . 2 +intergenic MIR548M(dist=772305),BRDTP1(dist=501555) chrX 95090530 95090530 T C het . 2 +intergenic MIR548M(dist=800689),BRDTP1(dist=473171) chrX 95118914 95118914 T G het . 3 +intergenic MIR548M(dist=814130),BRDTP1(dist=459730) chrX 95132355 95132355 G A het . 3 +intergenic MIR548M(dist=814166),BRDTP1(dist=459694) chrX 95132391 95132391 - T het . 4 +intergenic MIR548M(dist=837137),BRDTP1(dist=436723) chrX 95155362 95155362 G T het . 2 +intergenic MIR548M(dist=910051),BRDTP1(dist=363809) chrX 95228276 95228276 A G het . 6 +intergenic MIR548M(dist=911058),BRDTP1(dist=362802) chrX 95229283 95229283 C G het . 14 +intergenic MIR548M(dist=916201),BRDTP1(dist=357659) chrX 95234426 95234426 C T het . 2 +intergenic MIR548M(dist=916588),BRDTP1(dist=357272) chrX 95234813 95234813 A C het . 2 +intergenic MIR548M(dist=917926),BRDTP1(dist=355934) chrX 95236151 95236151 - TATATATATATG het . 1 +intergenic MIR548M(dist=918777),BRDTP1(dist=355083) chrX 95237002 95237002 A C het . 2 +intergenic MIR548M(dist=920127),BRDTP1(dist=353733) chrX 95238352 95238352 A C het . 2 +intergenic MIR548M(dist=930785),BRDTP1(dist=343075) chrX 95249010 95249010 T G het . 2 +intergenic MIR548M(dist=958724),BRDTP1(dist=315136) chrX 95276949 95276949 T C het . 2 +intergenic MIR548M(dist=968662),BRDTP1(dist=305198) chrX 95286887 95286887 A T het . 2 +intergenic MIR548M(dist=976676),BRDTP1(dist=297184) chrX 95294901 95294901 A G het . 2 +intergenic MIR548M(dist=1002052),BRDTP1(dist=271808) chrX 95320277 95320277 T C het . 2 +intergenic MIR548M(dist=1020819),BRDTP1(dist=253041) chrX 95339044 95339044 C T het . 3 +intergenic MIR548M(dist=1048086),BRDTP1(dist=225774) chrX 95366311 95366311 C A het . 2 +intergenic MIR548M(dist=1086213),BRDTP1(dist=187647) chrX 95404438 95404438 A G het . 3 +intergenic MIR548M(dist=1103916),BRDTP1(dist=169944) chrX 95422141 95422141 C G het . 2 +intergenic MIR548M(dist=1116252),BRDTP1(dist=157608) chrX 95434477 95434477 T C het . 3 +intergenic MIR548M(dist=1165022),BRDTP1(dist=108838) chrX 95483247 95483247 A C het . 2 +intergenic MIR548M(dist=1212305),BRDTP1(dist=61555) chrX 95530530 95530530 T G het . 2 +intergenic MIR548M(dist=1227783),BRDTP1(dist=46077) chrX 95546008 95546008 T A het . 2 +intergenic MIR548M(dist=1252579),BRDTP1(dist=21281) chrX 95570804 95570804 A G het . 2 +intergenic MIR548M(dist=1260260),BRDTP1(dist=13600) chrX 95578485 95578485 A G het . 2 +intergenic BRDTP1(dist=169940),DIAPH2(dist=176821) chrX 95762841 95762841 C T het . 2 +intergenic BRDTP1(dist=170874),DIAPH2(dist=175887) chrX 95763775 95763775 - T het . 2 +intergenic BRDTP1(dist=173358),DIAPH2(dist=173403) chrX 95766259 95766259 T C het . 3 +intergenic BRDTP1(dist=237607),DIAPH2(dist=109154) chrX 95830508 95830508 T C het . 2 +intergenic BRDTP1(dist=255587),DIAPH2(dist=91174) chrX 95848488 95848488 A T het . 2 +intergenic BRDTP1(dist=309254),DIAPH2(dist=37507) chrX 95902155 95902155 C T het . 2 +intergenic BRDTP1(dist=324650),DIAPH2(dist=22111) chrX 95917551 95917551 A T het . 2 +intronic DIAPH2 chrX 96018052 96018052 - T het . 6 +intronic DIAPH2 chrX 96048795 96048795 A G het . 4 +intronic DIAPH2 chrX 96136435 96136435 T C het . 3 +exonic RPA4 chrX 96139406 96139406 G A het . 15 +exonic RPA4 chrX 96139459 96139459 T C het . 15 +intronic DIAPH2 chrX 96161324 96161324 G A het . 2 +intronic DIAPH2 chrX 96196880 96196880 A G het . 4 +intronic DIAPH2 chrX 96197175 96197175 G A het . 5 +intronic DIAPH2 chrX 96390156 96390156 G A het . 3 +intronic DIAPH2 chrX 96408753 96408753 A G het . 3 +intronic DIAPH2 chrX 96417680 96417680 T C het . 1 +intronic DIAPH2 chrX 96430853 96430853 C T het . 2 +intronic DIAPH2 chrX 96462103 96462103 C G het . 2 +intronic DIAPH2 chrX 96467546 96467546 A C het . 2 +intronic DIAPH2 chrX 96536765 96536765 C T het . 2 +intergenic DIAPH2(dist=168512),XRCC6P5(dist=1692491) chrX 97024109 97024109 G A het . 2 +intergenic DIAPH2(dist=172431),XRCC6P5(dist=1688572) chrX 97028028 97028028 C G het . 3 +intergenic DIAPH2(dist=210452),XRCC6P5(dist=1650551) chrX 97066049 97066049 A G het . 2 +intergenic DIAPH2(dist=229472),XRCC6P5(dist=1631531) chrX 97085069 97085069 G A het . 1 +intergenic DIAPH2(dist=563925),XRCC6P5(dist=1297078) chrX 97419522 97419522 T - het . 2 +intergenic DIAPH2(dist=605716),XRCC6P5(dist=1255287) chrX 97461313 97461313 C T het . 2 +intergenic DIAPH2(dist=767366),XRCC6P5(dist=1093637) chrX 97622963 97622963 T G het . 2 +intergenic DIAPH2(dist=780100),XRCC6P5(dist=1080903) chrX 97635697 97635697 G A het . 3 +intergenic DIAPH2(dist=935252),XRCC6P5(dist=925751) chrX 97790849 97790849 A G het . 2 +intergenic DIAPH2(dist=1008557),XRCC6P5(dist=852446) chrX 97864154 97864154 G A het . 2 +intergenic DIAPH2(dist=1033730),XRCC6P5(dist=827273) chrX 97889327 97889327 G C het . 2 +intergenic DIAPH2(dist=1063991),XRCC6P5(dist=797012) chrX 97919588 97919588 T C het . 2 +intergenic DIAPH2(dist=1175947),XRCC6P5(dist=685056) chrX 98031544 98031544 A G het . 2 +intergenic DIAPH2(dist=1183911),XRCC6P5(dist=677092) chrX 98039508 98039508 C A het . 2 +intergenic DIAPH2(dist=1245196),XRCC6P5(dist=615807) chrX 98100793 98100793 C G het . 1 +intergenic DIAPH2(dist=1245201),XRCC6P5(dist=615802) chrX 98100798 98100798 T C het . 2 +intergenic DIAPH2(dist=1312210),XRCC6P5(dist=548793) chrX 98167807 98167807 A T het . 2 +intergenic DIAPH2(dist=1385751),XRCC6P5(dist=475252) chrX 98241348 98241348 A C het . 2 +intergenic DIAPH2(dist=1688833),XRCC6P5(dist=172170) chrX 98544430 98544430 G A het . 2 +intergenic DIAPH2(dist=1691666),XRCC6P5(dist=169337) chrX 98547263 98547263 A G het . 2 +intergenic DIAPH2(dist=1724151),XRCC6P5(dist=136852) chrX 98579748 98579748 G T het . 1 +intergenic DIAPH2(dist=1743053),XRCC6P5(dist=117950) chrX 98598650 98598650 C T het . 2 +intergenic DIAPH2(dist=1744403),XRCC6P5(dist=116600) chrX 98600000 98600000 - T het . 2 +intergenic DIAPH2(dist=1745817),XRCC6P5(dist=115186) chrX 98601414 98601414 G A het . 2 +intergenic DIAPH2(dist=1754138),XRCC6P5(dist=106865) chrX 98609735 98609735 T A het . 2 +intergenic DIAPH2(dist=1855906),XRCC6P5(dist=5097) chrX 98711503 98711503 G C het . 2 +ncRNA_intronic XRCC6P5 chrX 99050503 99050503 A C het . 2 +ncRNA_intronic XRCC6P5 chrX 99059183 99059183 C T het . 3 +ncRNA_intronic XRCC6P5 chrX 99093921 99093921 A - het . 1 +ncRNA_intronic XRCC6P5 chrX 99093934 99093934 C A het . 2 +ncRNA_intronic XRCC6P5 chrX 99135128 99135128 A T het . 2 +ncRNA_intronic XRCC6P5 chrX 99135310 99135310 G C het . 1 +ncRNA_intronic XRCC6P5 chrX 99151305 99151305 C T het . 2 +ncRNA_intronic XRCC6P5 chrX 99171034 99171034 T C het . 2 +ncRNA_intronic XRCC6P5 chrX 99190183 99190183 C T het . 3 +ncRNA_intronic XRCC6P5 chrX 99190766 99190766 A T het . 2 +intergenic XRCC6P5(dist=60729),PCDH19(dist=291072) chrX 99255570 99255570 G C het . 2 +intergenic XRCC6P5(dist=135969),PCDH19(dist=215832) chrX 99330810 99330810 C G het . 2 +intergenic XRCC6P5(dist=194345),PCDH19(dist=157456) chrX 99389186 99389186 G T het . 2 +intergenic XRCC6P5(dist=201507),PCDH19(dist=150294) chrX 99396348 99396348 A - het . 2 +intergenic XRCC6P5(dist=216123),PCDH19(dist=135678) chrX 99410964 99410964 C T het . 18 +intergenic XRCC6P5(dist=219831),PCDH19(dist=131970) chrX 99414672 99414672 C T het . 2 +intergenic XRCC6P5(dist=223060),PCDH19(dist=128741) chrX 99417901 99417901 C A het . 2 +intergenic XRCC6P5(dist=235981),PCDH19(dist=115820) chrX 99430822 99430822 C T het . 2 +intergenic XRCC6P5(dist=311019),PCDH19(dist=40782) chrX 99505860 99505860 T G het . 2 +intergenic XRCC6P5(dist=330165),PCDH19(dist=21636) chrX 99525006 99525006 C T het . 2 +intergenic XRCC6P5(dist=342517),PCDH19(dist=9284) chrX 99537358 99537358 G T het . 3 +intergenic XRCC6P5(dist=342572),PCDH19(dist=9229) chrX 99537413 99537413 A C het . 2 +UTR3 PCDH19(NM_020766:c.*392C>T,NM_001184880:c.*392C>T,NM_001105243:c.*392C>T) chrX 99550883 99550883 G A het . 2 +intronic PCDH19 chrX 99553825 99553825 G A het . 2 +intronic PCDH19 chrX 99576623 99576623 G T het . 2 +intronic PCDH19 chrX 99576656 99576656 T G het . 2 +exonic PCDH19 chrX 99661969 99661969 G A het . 24 +exonic PCDH19 chrX 99663050 99663050 G A het . 25 +intergenic PCDH19(dist=45958),TNMD(dist=128561) chrX 99711229 99711229 C A het . 2 +intergenic PCDH19(dist=70543),TNMD(dist=103976) chrX 99735814 99735814 A T het . 2 +intergenic PCDH19(dist=70553),TNMD(dist=103963) chrX 99735824 99735827 ATAT - het . 2 +intergenic PCDH19(dist=72011),TNMD(dist=102508) chrX 99737282 99737282 A G het . 2 +intergenic PCDH19(dist=88805),TNMD(dist=85714) chrX 99754076 99754076 A G het . 3 +intergenic PCDH19(dist=96226),TNMD(dist=78293) chrX 99761497 99761497 G A het . 2 +exonic TNMD chrX 99849017 99849017 G A het . 21 +intronic TNMD chrX 99849051 99849051 T C het . 14 +intronic TNMD chrX 99849419 99849419 G A het . 12 +intronic TNMD chrX 99854289 99854290 AA - het . 3 +intergenic TNMD(dist=16116),TSPAN6(dist=11107) chrX 99870998 99870998 T A het . 2 +intronic TSPAN6 chrX 99887402 99887402 - A het . 16 +intronic SRPX2 chrX 99906649 99906649 T C het . 3 +intronic SRPX2 chrX 99906875 99906875 T G het . 3 +intronic SRPX2 chrX 99919733 99919733 G A het . 17 +UTR3 SRPX2(NM_014467:c.*138G>A) chrX 99926122 99926122 G A het . 7 +downstream SRPX2(dist=210) chrX 99926506 99926506 G T het . 2 +intronic SYTL4 chrX 99939074 99939074 C T het . 3 +exonic SYTL4 chrX 99941705 99941705 T C het . 15 +intronic SYTL4 chrX 99941980 99941980 T C het . 5 +intronic SYTL4 chrX 99943327 99943327 C A het . 23 +intronic SYTL4 chrX 99957136 99957136 T C het . 11 +intronic SYTL4 chrX 99957238 99957238 G C het . 2 +intronic SYTL4 chrX 99976791 99976791 - T het . 2 +intergenic SYTL4(dist=41294),CSTF2(dist=46918) chrX 100028429 100028430 CT - het . 2 +intronic CSTF2 chrX 100075741 100075741 T G het . 8 +intronic CSTF2 chrX 100075747 100075747 T C het . 8 +UTR3 NOX1(NM_007052:c.*585_*583delCTT,NM_013955:c.*585_*583delCTT,NM_001271815:c.*585_*583delCTT) chrX 100098356 100098358 AAG - het . 12 +intronic NOX1 chrX 100122704 100122704 G A het . 2 +intronic XKRX chrX 100182091 100182091 C T het . 2 +intergenic XKRX(dist=28013),ARL13A(dist=12786) chrX 100211911 100211911 - T het . 4 +intergenic XKRX(dist=28534),ARL13A(dist=12265) chrX 100212432 100212432 C G het . 12 +intergenic XKRX(dist=28627),ARL13A(dist=12172) chrX 100212525 100212525 T C het . 3 +intergenic XKRX(dist=34066),ARL13A(dist=6730) chrX 100217964 100217967 TAAA - het . 2 +intronic ARL13A chrX 100242305 100242305 G A het . 4 +intronic ARL13A chrX 100243459 100243459 G T het . 12 +UTR3 ARL13A(NM_001162491:c.*29A>G) chrX 100245606 100245606 A G het . 14 +intergenic ARL13A(dist=10994),TRMT2B(dist=7515) chrX 100256814 100256819 AAAAAA - het . 1 +intergenic ARL13A(dist=11016),TRMT2B(dist=7498) chrX 100256836 100256836 A G het . 2 +intergenic ARL13A(dist=13003),TRMT2B(dist=5511) chrX 100258823 100258823 G T het . 2 +UTR3 TRMT2B(NM_024917:c.*18A>T,NM_001167972:c.*18A>T,NM_001167970:c.*18A>T,NM_001167971:c.*18A>T) chrX 100265552 100265552 T A het . 10 +intronic TRMT2B chrX 100265713 100265713 T C het . 8 +intronic TRMT2B chrX 100270796 100270796 - C het . 2 +intronic TRMT2B chrX 100275631 100275634 GTTT - het . 6 +intergenic TRMT2B(dist=4436),TMEM35A(dist=22295) chrX 100311541 100311541 C T het . 1 +intergenic TRMT2B(dist=7921),TMEM35A(dist=18810) chrX 100315026 100315026 G A het . 2 +intergenic TRMT2B(dist=9985),TMEM35A(dist=16746) chrX 100317090 100317090 A G het . 2 +intergenic TRMT2B(dist=18153),TMEM35A(dist=8578) chrX 100325258 100325258 G A het . 2 +intergenic TRMT2B(dist=18274),TMEM35A(dist=8457) chrX 100325379 100325379 T - het . 3 +intronic CENPI chrX 100356022 100356026 TAACT - het . 14 +intronic CENPI chrX 100357194 100357194 C G het . 8 +intronic CENPI chrX 100357201 100357201 T C het . 9 +intronic CENPI chrX 100357418 100357418 T - het . 13 +intronic CENPI chrX 100357485 100357485 - AC het . 5 +intronic CENPI chrX 100400023 100400023 A G het . 4 +intergenic CENPI(dist=10142),DRP2(dist=46129) chrX 100428804 100428804 T C het . 3 +intergenic CENPI(dist=35884),DRP2(dist=20387) chrX 100454546 100454546 A G het . 2 +intronic TAF7L chrX 100524308 100524308 C A het . 14 +intronic TAF7L chrX 100545164 100545164 G A het . 3 +intronic TAF7L chrX 100547650 100547650 A G het . 4 +exonic TAF7L chrX 100547933 100547933 A G het . 37 +UTR3 BTK(NM_001287345:c.*116A>C,NM_001287344:c.*116A>C,NM_000061:c.*116A>C) chrX 100604757 100604757 T G het . 7 +intronic BTK chrX 100608059 100608059 A - het . 6 +intronic BTK chrX 100609547 100609547 G A het . 3 +intronic BTK chrX 100615478 100615478 C T het . 7 +intronic BTK chrX 100617372 100617372 T C het . 13 +intronic BTK chrX 100624729 100624735 TTCTTTG - het . 6 +intronic BTK chrX 100626864 100626864 C T het . 4 +intergenic RPL36A-HNRNPH2(dist=32527),ARMCX4(dist=41376) chrX 100701655 100701655 T C het . 2 +upstream ARMCX4(dist=480) chrX 100742551 100742551 G A het . 2 +UTR5 ARMCX4(NM_001256155:c.-540C>T) chrX 100743037 100743037 C T het . 7 +exonic ARMCX4 chrX 100743826 100743826 A G het . 15 +exonic ARMCX4 chrX 100745825 100745825 T C het . 11 +exonic ARMCX4 chrX 100748078 100748078 A G het . 13 +exonic ARMCX4 chrX 100749127 100749127 A G het . 1 +exonic ARMCX4 chrX 100749585 100749585 C T het . 18 +intergenic ARMCX4(dist=41835),ARMCX1(dist=12881) chrX 100792633 100792633 C T het . 10 +intergenic ARMCX4(dist=42370),ARMCX1(dist=12346) chrX 100793168 100793168 A G het . 30 +intergenic ARMCX4(dist=42635),ARMCX1(dist=12079) chrX 100793433 100793435 TTT - het . 12 +intergenic ARMCX4(dist=43197),ARMCX1(dist=11519) chrX 100793995 100793995 G C het . 8 +intergenic ARMCX3(dist=21875),ARMCX2(dist=5562) chrX 100904706 100904706 G A het . 2 +intergenic ARMCX3(dist=23709),ARMCX2(dist=3728) chrX 100906540 100906540 - G het . 2 +intergenic ARMCX3(dist=25373),ARMCX2(dist=2064) chrX 100908204 100908204 A G het . 2 +exonic ARMCX2 chrX 100911066 100911066 C T het . 35 +intergenic ARMCX2(dist=79816),NXF5(dist=92393) chrX 100994692 100994692 C T het . 3 +intergenic ARMCX2(dist=103325),NXF5(dist=68884) chrX 101018201 101018201 C A het . 2 +intergenic ARMCX2(dist=106253),NXF5(dist=65956) chrX 101021129 101021129 T A het . 2 +intergenic ARMCX2(dist=111891),NXF5(dist=60318) chrX 101026767 101026767 A G het . 2 +intergenic ARMCX2(dist=119443),NXF5(dist=52764) chrX 101034319 101034321 CTT - het . 8 +intergenic ARMCX2(dist=137095),NXF5(dist=35114) chrX 101051971 101051971 A G het . 2 +intronic NXF5 chrX 101090953 101090953 G A het . 6 +intronic NXF5 chrX 101091164 101091164 T C het . 22 +intronic NXF5 chrX 101097235 101097235 C T het . 3 +intronic NXF5 chrX 101097274 101097277 TTCC - het . 2 +intronic NXF5 chrX 101097890 101097890 T C het . 5 +UTR3 ZMAT1(NM_001282401:c.*43_*44insA,NM_001011657:c.*43_*44insA,NM_001282400:c.*43_*44insA) chrX 101138438 101138438 - T het . 7 +exonic ZMAT1 chrX 101138726 101138726 T C het . 23 +exonic ZMAT1 chrX 101138792 101138792 T C het . 22 +intronic ZMAT1 chrX 101140588 101140588 T G het . 3 +intronic ZMAT1 chrX 101141777 101141777 C - het . 4 +intronic ZMAT1 chrX 101141793 101141793 G A het . 5 +intronic ZMAT1 chrX 101169985 101169985 C T het . 2 +intergenic ZMAT1(dist=1051),TCEAL2(dist=192570) chrX 101188090 101188090 T C het . 2 +intergenic ZMAT1(dist=16599),TCEAL2(dist=177022) chrX 101203638 101203638 T C het . 2 +intergenic ZMAT1(dist=16607),TCEAL2(dist=177014) chrX 101203646 101203646 G A het . 1 +intergenic ZMAT1(dist=18220),TCEAL2(dist=175401) chrX 101205259 101205259 G T het . 2 +intergenic ZMAT1(dist=58195),TCEAL2(dist=135426) chrX 101245234 101245234 A T het . 2 +intergenic ZMAT1(dist=58255),TCEAL2(dist=135366) chrX 101245294 101245294 A T het . 2 +intergenic ZMAT1(dist=98951),TCEAL2(dist=94670) chrX 101285990 101285990 G A het . 2 +intergenic ZMAT1(dist=186457),TCEAL2(dist=7162) chrX 101373496 101373498 AAC - het . 1 +exonic TCEAL2 chrX 101382005 101382005 G C het . 34 +exonic TCEAL6 chrX 101396211 101396211 G A het . 7 +downstream BEX5(dist=958) chrX 101407721 101407721 T C het . 3 +intergenic BEX5(dist=26649),TCP11X2(dist=32645) chrX 101437635 101437635 A G het . 11 +upstream NXF4(dist=66) chrX 101804827 101804827 C T het . 2 +exonic ARMCX5 chrX 101858722 101858722 C A het . 9 +intronic ARMCX5-GPRASP2 chrX 101928501 101928501 T C het . 2 +ncRNA_intronic LINC00630 chrX 102044291 102044291 T G het . 2 +ncRNA_intronic LINC00630 chrX 102148876 102148876 C - het . 2 +exonic RAB40AL chrX 102193032 102193032 A C het . 8 +exonic RAB40AL chrX 102193037 102193037 A C het . 7 +exonic RAB40AL chrX 102193039 102193039 A C het . 6 +intergenic LINC00630(dist=88167),BEX1(dist=9964) chrX 102307617 102307617 C T het . 2 +exonic BEX1 chrX 102317867 102317867 G A het . 12 +exonic NXF3 chrX 102338153 102338153 C A het . 18 +intronic NXF3 chrX 102342405 102342405 G A het . 12 +intronic NXF3 chrX 102342852 102342852 A G het . 16 +intergenic NXF3(dist=22354),BEX4(dist=99644) chrX 102370376 102370376 C G het . 4 +intergenic NXF3(dist=24075),BEX4(dist=97923) chrX 102372097 102372097 T C het . 2 +upstream BEX4(dist=433) chrX 102469587 102469587 T A het . 3 +intergenic BEX4(dist=6930),TCEAL8(dist=28865) chrX 102479058 102479058 - A het . 2 +intergenic TCEAL8(dist=8298),TCEAL5(dist=10199) chrX 102518419 102518419 G T het . 3 +UTR5 TCEAL5(NM_001012979:c.-23G>T) chrX 102529514 102529514 C A het . 13 +intergenic TCEAL7(dist=10464),TCEAL9(dist=13662) chrX 102597718 102597718 A - het . 2 +intergenic TCEAL7(dist=14031),TCEAL9(dist=10095) chrX 102601285 102601285 T A het . 2 +intergenic BEX3(dist=101011),RAB40A(dist=20578) chrX 102734103 102734103 C T het . 2 +exonic RAB40A chrX 102755551 102755551 T A het . 23 +UTR5 TCEAL4(NM_001300901:c.-181C>T) chrX 102831217 102831217 C T het . 8 +UTR5 TCEAL4(NM_001305842:c.-1183G>T,NM_001305841:c.-1183G>T,NM_001006935:c.-1183G>T,NM_001305840:c.-1183G>T,NM_024863:c.-1183G>T,NM_001006937:c.-1183G>T) chrX 102840421 102840421 G T het . 2 +exonic TCEAL4 chrX 102841638 102841638 C A het . 32 +exonic TCEAL4 chrX 102842041 102842041 T C het . 17 +exonic GLRA4 chrX 102968484 102968484 G A het . 18 +exonic GLRA4 chrX 102973915 102973915 G A het . 9 +exonic GLRA4 chrX 102978806 102978806 G C het . 16 +exonic GLRA4 chrX 102979486 102979486 T C het . 15 +intronic GLRA4 chrX 102979992 102979992 A G het . 8 +intronic GLRA4 chrX 102980647 102980647 G A het . 2 +intergenic GLRA4(dist=31620),PLP1(dist=16262) chrX 103015172 103015172 A - het . 2 +intronic PLP1 chrX 103040400 103040400 T C het . 4 +intronic PLP1 chrX 103041697 103041697 G C het . 15 +exonic PLP1 chrX 103042882 103042882 T C het . 23 +intronic PLP1 chrX 103045448 103045448 C T het . 32 +intergenic RAB9B(dist=47765),TMSB15B-AS1(dist=1674) chrX 103134977 103134977 A G het . 1 +ncRNA_intronic TMSB15B-AS1 chrX 103142836 103142836 A G het . 3 +ncRNA_intronic TMSB15B-AS1 chrX 103167170 103167173 TTTG - het . 8 +intronic TMSB15B chrX 103182760 103182760 C T het . 14 +intronic TMSB15B chrX 103183473 103183473 T G het . 12 +intronic TMSB15B chrX 103207743 103207743 C G het . 3 +intronic TMSB15B chrX 103219004 103219004 C T het . 13 +exonic H2BFWT chrX 103267865 103267865 C T het . 24 +upstream H2BFWT(dist=74) chrX 103268333 103268333 G A het . 16 +intergenic H2BFWT(dist=5967),H2BFM(dist=20290) chrX 103274226 103274226 A G het . 17 +intronic H2BFM chrX 103295320 103295320 G C het . 17 +intronic FAM199X chrX 103420586 103420586 T C het . 9 +intergenic ESX1(dist=98401),IL1RAPL2(dist=212996) chrX 103598000 103598000 G A het . 2 +intergenic ESX1(dist=207140),IL1RAPL2(dist=104257) chrX 103706739 103706739 T C het . 1 +intergenic ESX1(dist=281247),IL1RAPL2(dist=30150) chrX 103780846 103780846 T C het . 2 +intergenic ESX1(dist=302966),IL1RAPL2(dist=8431) chrX 103802565 103802565 C G het . 2 +intronic IL1RAPL2 chrX 103891881 103891881 C T het . 5 +intronic IL1RAPL2 chrX 103892553 103892553 A G het . 7 +intronic IL1RAPL2 chrX 103942276 103942276 A G het . 2 +intronic IL1RAPL2 chrX 104073280 104073280 - G het . 2 +intronic IL1RAPL2 chrX 104191097 104191097 A T het . 3 +intronic IL1RAPL2 chrX 104211906 104211906 A G het . 2 +intronic IL1RAPL2 chrX 104327934 104327934 A - het . 2 +intronic IL1RAPL2 chrX 104371037 104371037 - T het . 2 +intronic IL1RAPL2 chrX 104377178 104377178 A C het . 2 +exonic;splicing TEX13A;TEX13A(NM_031274:exon4:c.598+2T>-,NM_001291277:exon4:c.598+2T>-) chrX 104464277 104464277 A - het . 31 +splicing TEX13A(NM_031274:exon3:c.595+1G>-,NM_031274:exon4:c.596-1G>-,NM_001291277:exon3:c.595+1G>-,NM_001291277:exon4:c.596-1G>-) chrX 104464282 104464282 C - het . 32 +intronic IL1RAPL2 chrX 104500518 104500518 A C het . 2 +intronic IL1RAPL2 chrX 104592236 104592236 - CAT het . 3 +intronic IL1RAPL2 chrX 104625146 104625146 T C het . 2 +intronic IL1RAPL2 chrX 104648583 104648583 T C het . 2 +intronic IL1RAPL2 chrX 104650306 104650306 G A het . 8 +intronic IL1RAPL2 chrX 104908816 104908816 T A het . 2 +intronic NRK chrX 105083259 105083259 C - het . 2 +intronic NRK chrX 105139357 105139360 AGAA - het . 19 +exonic NRK chrX 105153001 105153001 A G het . 9 +exonic NRK chrX 105168733 105168733 G A het . 16 +intronic NRK chrX 105179132 105179132 C T het . 6 +intronic NRK chrX 105182228 105182228 A G het . 3 +intergenic NRK(dist=47301),SERPINA7(dist=27287) chrX 105249903 105249903 G A het . 2 +intergenic SERPINA7(dist=27953),MUM1L1(dist=101627) chrX 105310671 105310671 C A het . 2 +exonic MUM1L1 chrX 105450961 105450961 C A het . 29 +intergenic MUM1L1(dist=55621),CXorf57(dist=346590) chrX 105508570 105508570 C T het . 2 +intronic RNF128 chrX 105995977 105995977 G A het . 2 +intronic RNF128 chrX 106028279 106028279 - T het . 20 +intronic TBC1D8B chrX 106059865 106059865 T - het . 2 +intronic TBC1D8B chrX 106070264 106070264 C A het . 5 +intronic CLDN2,RIPPLY1 chrX 106144537 106144537 A T het . 4 +intronic CLDN2,RIPPLY1 chrX 106145578 106145578 C A het . 6 +intronic CLDN2 chrX 106162634 106162634 C T het . 3 +intronic MORC4 chrX 106184896 106184896 T A het . 7 +intergenic MORC4(dist=39502),RBM41(dist=22142) chrX 106282976 106282976 T C het . 2 +intergenic MORC4(dist=46276),RBM41(dist=15368) chrX 106289750 106289750 G T het . 2 +intergenic MORC4(dist=52876),RBM41(dist=8768) chrX 106296350 106296350 T C het . 2 +intergenic MORC4(dist=53661),RBM41(dist=7983) chrX 106297135 106297135 G A het . 2 +UTR3 RBM41(NM_018301:c.*1856G>T,NM_001171080:c.*83G>T,NM_001324243:c.*1856G>T,NM_001324242:c.*1856G>T,NM_001324244:c.*83G>T) chrX 106308901 106308901 C A het . 12 +intronic RBM41 chrX 106313508 106313508 G A het . 30 +intronic RBM41 chrX 106344439 106344439 G A het . 2 +intronic RBM41 chrX 106356754 106356754 A T het . 11 +exonic RBM41 chrX 106358694 106358694 C A het . 26 +upstream RBM41(dist=22) chrX 106362079 106362079 T - het . 7 +intronic NUP62CL chrX 106373432 106373432 C G het . 1 +intronic NUP62CL chrX 106374887 106374887 G C het . 17 +intronic NUP62CL chrX 106375295 106375295 A G het . 8 +intronic NUP62CL chrX 106377553 106377553 T C het . 2 +intronic NUP62CL chrX 106378252 106378252 T C het . 2 +exonic NUP62CL chrX 106396455 106396455 A G het . 12 +intronic NUP62CL chrX 106396618 106396618 A - het . 25 +intronic NUP62CL chrX 106407238 106407238 T C het . 2 +intronic NUP62CL chrX 106426519 106426519 C T het . 3 +intronic NUP62CL chrX 106428804 106428804 C T het . 2 +intronic NUP62CL chrX 106445186 106445186 T G het . 2 +intronic PIH1D3 chrX 106459810 106459810 T G het . 4 +intronic PIH1D3 chrX 106462267 106462267 C T het . 9 +intronic PIH1D3 chrX 106466923 106466923 T C het . 2 +intronic PIH1D3 chrX 106486286 106486286 - G het . 5 +intergenic PIH1D3(dist=20079),FRMPD3-AS1(dist=248661) chrX 106507552 106507552 A T het . 2 +intergenic PIH1D3(dist=28441),FRMPD3-AS1(dist=240299) chrX 106515914 106515914 T G het . 9 +intergenic PIH1D3(dist=28652),FRMPD3-AS1(dist=240088) chrX 106516125 106516125 G C het . 2 +intergenic PIH1D3(dist=63416),FRMPD3-AS1(dist=205324) chrX 106550889 106550889 C T het . 3 +intergenic PIH1D3(dist=108660),FRMPD3-AS1(dist=160080) chrX 106596133 106596133 G A het . 3 +intergenic PIH1D3(dist=185089),FRMPD3-AS1(dist=83651) chrX 106672562 106672562 A G het . 8 +exonic FRMPD3 chrX 106803609 106803609 G A het . 18 +intergenic FRMPD3(dist=9552),PRPS1(dist=13621) chrX 106858033 106858033 T A het . 2 +intronic PRPS1 chrX 106888333 106888333 C T het . 11 +intronic PRPS1 chrX 106891164 106891164 T - het . 5 +intergenic PRPS1(dist=14011),TSC22D3(dist=48185) chrX 106908267 106908267 - GTGA het . 2 +intergenic PRPS1(dist=41588),TSC22D3(dist=20608) chrX 106935844 106935844 A G het . 1 +intronic MID2 chrX 107094995 107094995 G T het . 3 +ncRNA_intronic LOC101928335 chrX 107141759 107141759 T - het . 2 +intergenic LOC101928335(dist=23165),TEX13B(dist=21719) chrX 107202375 107202375 G A het . 3 +downstream TEX13B(dist=63) chrX 107224031 107224031 C T het . 2 +intronic VSIG1 chrX 107288598 107288598 C T het . 5 +intronic PSMD10 chrX 107328436 107328436 G A het . 3 +intronic PSMD10 chrX 107330842 107330842 G T het . 6 +intronic PSMD10 chrX 107332134 107332134 A - het . 8 +intronic ATG4A chrX 107371905 107371905 A - het . 12 +intronic ATG4A chrX 107376553 107376553 G A het . 2 +intronic ATG4A chrX 107380484 107380484 T G het . 2 +intronic ATG4A chrX 107386877 107386877 A G het . 5 +intronic ATG4A chrX 107393330 107393330 - G het . 3 +intronic ATG4A chrX 107395264 107395264 A G het . 4 +intronic ATG4A chrX 107396365 107396365 G A het . 8 +intronic COL4A6 chrX 107405686 107405688 AAG - het . 4 +intronic COL4A6 chrX 107418281 107418281 C T het . 2 +exonic COL4A6 chrX 107418906 107418906 A G het . 17 +intronic COL4A6 chrX 107425285 107425285 G A het . 2 +exonic COL4A6 chrX 107433688 107433688 A G het . 17 +intronic COL4A6 chrX 107437848 107437848 G C het . 16 +intronic COL4A6 chrX 107438119 107438119 G T het . 4 +intronic COL4A6 chrX 107448639 107448639 G T het . 18 +intronic COL4A6 chrX 107449938 107449938 G C het . 20 +intronic COL4A6 chrX 107450101 107450101 T G het . 12 +intronic COL4A6 chrX 107455014 107455014 C T het . 11 +intronic COL4A6 chrX 107463091 107463102 CCATATTGTATT - het . 6 +intronic COL4A6 chrX 107464328 107464328 A - het . 22 +intronic COL4A6 chrX 107476909 107476909 C A het . 2 +intronic COL4A6 chrX 107480228 107480228 T C het . 2 +intronic COL4A6 chrX 107600037 107600037 C T het . 3 +intronic COL4A6 chrX 107630321 107630321 T A het . 2 +intronic COL4A5 chrX 107683502 107683502 G - het . 8 +intronic COL4A5 chrX 107683760 107683760 C G het . 1 +intronic COL4A5 chrX 107802481 107802481 C A het . 19 +intronic COL4A5 chrX 107821231 107821231 T A het . 46 +intronic COL4A5 chrX 107827760 107827760 - T het . 32 +intronic COL4A5 chrX 107834694 107834694 C A het . 21 +intronic COL4A5 chrX 107840190 107840191 TG - het . 23 +intronic COL4A5 chrX 107840210 107840211 TG - het . 35 +intronic COL4A5 chrX 107844758 107844758 C G het . 11 +exonic IRS4 chrX 107976789 107976789 C A het . 48 +intergenic LOC101928358(dist=25755),GUCY2F(dist=608247) chrX 108007888 108007888 C G het . 2 +intergenic LOC101928358(dist=43021),GUCY2F(dist=590981) chrX 108025154 108025154 - T het . 2 +intergenic LOC101928358(dist=83572),GUCY2F(dist=550430) chrX 108065705 108065705 C T het . 1 +intergenic LOC101928358(dist=101413),GUCY2F(dist=532589) chrX 108083546 108083546 A C het . 2 +intergenic LOC101928358(dist=107146),GUCY2F(dist=526856) chrX 108089279 108089279 C A het . 2 +intergenic LOC101928358(dist=116489),GUCY2F(dist=517513) chrX 108098622 108098622 A G het . 2 +intergenic LOC101928358(dist=116525),GUCY2F(dist=517476) chrX 108098658 108098659 CA AG het . 4 +intergenic LOC101928358(dist=133232),GUCY2F(dist=500770) chrX 108115365 108115365 C T het . 2 +intergenic LOC101928358(dist=146856),GUCY2F(dist=487146) chrX 108128989 108128989 G A het . 2 +intergenic LOC101928358(dist=164255),GUCY2F(dist=469747) chrX 108146388 108146388 C A het . 2 +intergenic LOC101928358(dist=280347),GUCY2F(dist=353655) chrX 108262480 108262480 G C het . 2 +intergenic LOC101928358(dist=315047),GUCY2F(dist=318955) chrX 108297180 108297180 G T het . 2 +intergenic LOC101928358(dist=325401),GUCY2F(dist=308601) chrX 108307534 108307534 T C het . 2 +intergenic LOC101928358(dist=333018),GUCY2F(dist=300984) chrX 108315151 108315151 C T het . 3 +intergenic LOC101928358(dist=333026),GUCY2F(dist=300976) chrX 108315159 108315159 A G het . 3 +intergenic LOC101928358(dist=336815),GUCY2F(dist=297187) chrX 108318948 108318948 C G het . 2 +intergenic LOC101928358(dist=356818),GUCY2F(dist=277184) chrX 108338951 108338951 C T het . 2 +intergenic LOC101928358(dist=511833),GUCY2F(dist=122169) chrX 108493966 108493966 A G het . 2 +intergenic LOC101928358(dist=610360),GUCY2F(dist=23642) chrX 108592493 108592493 G A het . 4 +exonic GUCY2F chrX 108718751 108718751 C A het . 19 +intronic NXT2 chrX 108785713 108785713 T - het . 7 +intergenic NXT2(dist=23775),KCNE5(dist=55227) chrX 108811702 108811702 A G het . 6 +intergenic NXT2(dist=24922),KCNE5(dist=54080) chrX 108812849 108812849 A G het . 7 +intergenic NXT2(dist=25718),KCNE5(dist=53284) chrX 108813645 108813645 T C het . 8 +intergenic NXT2(dist=44050),KCNE5(dist=34952) chrX 108831977 108831977 C T het . 3 +intergenic NXT2(dist=48240),KCNE5(dist=30762) chrX 108836167 108836167 C T het . 1 +intergenic NXT2(dist=49097),KCNE5(dist=29905) chrX 108837024 108837024 A G het . 2 +intergenic NXT2(dist=60218),KCNE5(dist=18784) chrX 108848145 108848145 C T het . 2 +upstream KCNE5(dist=57) chrX 108868454 108868454 C T het . 2 +intronic ACSL4 chrX 108904729 108904729 C T het . 31 +intronic ACSL4 chrX 108917757 108917757 T C het . 11 +intronic ACSL4 chrX 108917773 108917773 A G het . 10 +intronic ACSL4 chrX 108951424 108951424 C T het . 2 +intergenic ACSL4(dist=7673),MIR4454(dist=129325) chrX 108984305 108984305 C T het . 3 +intergenic ACSL4(dist=58848),MIR4454(dist=78150) chrX 109035480 109035480 C T het . 2 +intergenic ACSL4(dist=60605),MIR4454(dist=76393) chrX 109037237 109037237 G C het . 2 +intergenic ACSL4(dist=87406),MIR4454(dist=49592) chrX 109064038 109064038 A - het . 3 +intergenic ACSL4(dist=128055),MIR4454(dist=8943) chrX 109104687 109104687 A C het . 2 +intergenic MIR4454(dist=104263),TMEM164(dist=27919) chrX 109217944 109217944 - AAA het . 2 +intronic TMEM164 chrX 109262511 109262511 A C het . 2 +intronic TMEM164 chrX 109298414 109298414 G A het . 7 +intronic TMEM164 chrX 109325826 109325826 G T het . 2 +intronic AMMECR1,RTL9 chrX 109672715 109672715 G T het . 1 +exonic RTL9 chrX 109694685 109694685 T A het . 16 +intergenic TDGF1P3(dist=14994),CHRDL1(dist=135841) chrX 109781243 109781243 C T het . 2 +intergenic TDGF1P3(dist=95671),CHRDL1(dist=55164) chrX 109861920 109861920 C T het . 2 +intergenic TDGF1P3(dist=100113),CHRDL1(dist=50722) chrX 109866362 109866362 T C het . 2 +intergenic TDGF1P3(dist=106540),CHRDL1(dist=44295) chrX 109872789 109872789 G A het . 2 +intergenic TDGF1P3(dist=111928),CHRDL1(dist=38907) chrX 109878177 109878177 - A het . 2 +intergenic TDGF1P3(dist=117826),CHRDL1(dist=33009) chrX 109884075 109884075 G T het . 2 +intergenic TDGF1P3(dist=125788),CHRDL1(dist=25047) chrX 109892037 109892037 T C het . 2 +intergenic TDGF1P3(dist=129435),CHRDL1(dist=21400) chrX 109895684 109895684 T C het . 2 +intergenic TDGF1P3(dist=133001),CHRDL1(dist=17834) chrX 109899250 109899250 C T het . 3 +intergenic TDGF1P3(dist=142364),CHRDL1(dist=8471) chrX 109908613 109908613 C T het . 3 +intergenic TDGF1P3(dist=148286),CHRDL1(dist=2549) chrX 109914535 109914535 A G het . 2 +intergenic TDGF1P3(dist=148998),CHRDL1(dist=1837) chrX 109915247 109915247 T A het . 2 +intronic CHRDL1 chrX 109931799 109931799 A G het . 15 +exonic CHRDL1 chrX 109931856 109931856 T C het . 21 +intronic CHRDL1 chrX 110012827 110012827 G A het . 2 +intronic CHRDL1 chrX 110015782 110015782 G A het . 2 +intronic CHRDL1 chrX 110022503 110022503 C A het . 2 +intronic CHRDL1 chrX 110028402 110028402 A G het . 2 +intergenic CHRDL1(dist=50129),PAK3(dist=98054) chrX 110089415 110089415 C T het . 2 +intergenic CHRDL1(dist=64294),PAK3(dist=83889) chrX 110103580 110103580 T A het . 2 +intergenic CHRDL1(dist=123929),PAK3(dist=24254) chrX 110163215 110163215 - T het . 3 +intronic PAK3 chrX 110188612 110188612 T C het . 3 +intronic PAK3 chrX 110190225 110190225 G A het . 2 +intronic PAK3 chrX 110272274 110272274 T A het . 2 +intronic PAK3 chrX 110278385 110278388 AAGA - het . 3 +intronic PAK3 chrX 110363574 110363574 C T het . 2 +intronic PAK3 chrX 110416183 110416186 TCTC - het . 29 +intronic CAPN6 chrX 110494529 110494529 A - het . 9 +intergenic SERTM2(dist=80221),ALG13(dist=78498) chrX 110845848 110845848 T C het . 5 +intronic TRPC5,TRPC5OS chrX 111128771 111128771 T - het . 1 +intronic TRPC5,TRPC5OS chrX 111128785 111128785 T A het . 2 +intronic TRPC5 chrX 111224271 111224271 A G het . 2 +intronic RTL4 chrX 111540236 111540236 G A het . 2 +intronic RTL4 chrX 111619654 111619654 C T het . 3 +intronic RTL4 chrX 111660943 111660943 C G het . 2 +intronic RTL4 chrX 111685418 111685418 C T het . 4 +exonic RTL4 chrX 111698036 111698036 T C het . 7 +exonic RTL4 chrX 111698440 111698440 G T het . 17 +exonic RTL4 chrX 111698463 111698463 C T het . 14 +intergenic RTL4(dist=33395),LHFPL1(dist=140011) chrX 111733868 111733868 G A het . 2 +intergenic RTL4(dist=38685),LHFPL1(dist=134721) chrX 111739158 111739158 C A het . 2 +intergenic RTL4(dist=57827),LHFPL1(dist=115579) chrX 111758300 111758300 G A het . 2 +intergenic RTL4(dist=93186),LHFPL1(dist=80220) chrX 111793659 111793659 T C het . 2 +intergenic RTL4(dist=103393),LHFPL1(dist=70013) chrX 111803866 111803866 A G het . 2 +exonic AMOT chrX 112022477 112022479 CAG - het . 22 +exonic AMOT chrX 112024114 112024114 C A het . 21 +ncRNA_intronic LOC101928437 chrX 112306799 112306799 T C het . 2 +ncRNA_intronic LOC101928437 chrX 112336301 112336301 T C het . 3 +ncRNA_intronic LOC101928437 chrX 112342501 112342501 A T het . 8 +ncRNA_intronic LOC101928437 chrX 112368008 112368008 G A het . 2 +ncRNA_intronic LOC101928437 chrX 112444196 112444196 T C het . 2 +ncRNA_intronic LOC101928437 chrX 112456483 112456483 G A het . 2 +ncRNA_intronic LOC101928437 chrX 112494333 112494333 C T het . 2 +ncRNA_intronic LOC101928437 chrX 112516866 112516866 G A het . 2 +ncRNA_intronic LOC101928437 chrX 112520416 112520416 C G het . 2 +ncRNA_intronic LOC101928437 chrX 112648220 112648220 C A het . 2 +ncRNA_intronic LOC101928437 chrX 112719817 112719817 A C het . 2 +ncRNA_intronic LOC101928437 chrX 112721394 112721394 C T het . 2 +ncRNA_intronic LOC101928437 chrX 112728697 112728697 A C het . 2 +intergenic LOC101928437(dist=49290),XACT(dist=46412) chrX 112813175 112813175 A G het . 2 +intergenic LOC101928437(dist=72747),XACT(dist=22955) chrX 112836632 112836632 - TTTTTT het . 2 +ncRNA_intronic XACT chrX 112874172 112874172 T C het . 2 +ncRNA_intronic XACT chrX 112882611 112882611 T C het . 3 +ncRNA_intronic XACT chrX 112925380 112925380 C G het . 1 +ncRNA_intronic XACT chrX 112926278 112926278 G A het . 1 +ncRNA_intronic XACT chrX 112941610 112941610 G A het . 2 +intergenic XACT(dist=31731),HTR2C(dist=605314) chrX 113213237 113213237 T C het . 2 +intergenic XACT(dist=59876),HTR2C(dist=577169) chrX 113241382 113241382 C A het . 8 +intergenic XACT(dist=77373),HTR2C(dist=559672) chrX 113258879 113258879 - AAT het . 2 +intergenic XACT(dist=86730),HTR2C(dist=550315) chrX 113268236 113268236 A G het . 3 +intergenic XACT(dist=99552),HTR2C(dist=537493) chrX 113281058 113281058 A - het . 2 +intergenic XACT(dist=109361),HTR2C(dist=527684) chrX 113290867 113290867 A C het . 2 +intergenic XACT(dist=114489),HTR2C(dist=522556) chrX 113295995 113295995 G A het . 2 +intergenic XACT(dist=115814),HTR2C(dist=521231) chrX 113297320 113297320 G C het . 2 +intergenic XACT(dist=239038),HTR2C(dist=398007) chrX 113420544 113420544 A G het . 2 +intergenic XACT(dist=261924),HTR2C(dist=375121) chrX 113443430 113443430 A G het . 2 +intergenic XACT(dist=321516),HTR2C(dist=315529) chrX 113503022 113503022 T C het . 3 +intergenic XACT(dist=469335),HTR2C(dist=167710) chrX 113650841 113650841 C T het . 2 +intergenic XACT(dist=470876),HTR2C(dist=166169) chrX 113652382 113652382 C T het . 3 +intergenic XACT(dist=482736),HTR2C(dist=154309) chrX 113664242 113664242 C T het . 2 +intergenic XACT(dist=491585),HTR2C(dist=145460) chrX 113673091 113673091 T C het . 2 +intergenic XACT(dist=499988),HTR2C(dist=137054) chrX 113681494 113681497 TTAG - het . 2 +intergenic XACT(dist=527225),HTR2C(dist=109820) chrX 113708731 113708731 A - het . 2 +intergenic XACT(dist=527257),HTR2C(dist=109788) chrX 113708763 113708763 G A het . 2 +intergenic XACT(dist=528618),HTR2C(dist=108426) chrX 113710124 113710125 TT - het . 2 +intergenic XACT(dist=528632),HTR2C(dist=108413) chrX 113710138 113710138 - G het . 2 +intergenic XACT(dist=528638),HTR2C(dist=108407) chrX 113710144 113710144 T G het . 2 +intergenic XACT(dist=531487),HTR2C(dist=105558) chrX 113712993 113712993 T C het . 2 +intergenic XACT(dist=547799),HTR2C(dist=89246) chrX 113729305 113729305 A G het . 2 +intergenic XACT(dist=566179),HTR2C(dist=70866) chrX 113747685 113747685 T C het . 2 +intergenic XACT(dist=588545),HTR2C(dist=48500) chrX 113770051 113770051 A C het . 2 +intronic HTR2C chrX 114034633 114034633 A C het . 2 +intronic HTR2C chrX 114055209 114055209 G A het . 2 +intronic HTR2C chrX 114082535 114082535 G A het . 7 +intronic HTR2C chrX 114084979 114084979 A C het . 2 +intergenic HTR2C(dist=28465),IL13RA2(dist=65449) chrX 114173089 114173089 T C het . 2 +intergenic HTR2C(dist=60391),IL13RA2(dist=33523) chrX 114205015 114205015 A G het . 2 +intergenic HTR2C(dist=84201),IL13RA2(dist=9713) chrX 114228825 114228825 C A het . 2 +intronic LRCH2 chrX 114400318 114400318 T G het . 7 +intronic LRCH2 chrX 114405140 114405140 A T het . 5 +exonic RBMXL3 chrX 114424148 114424148 G A het . 32 +exonic RBMXL3 chrX 114424438 114424438 C G het . 9 +exonic RBMXL3 chrX 114424505 114424505 G A het . 3 +exonic RBMXL3 chrX 114425196 114425196 G A het . 9 +exonic RBMXL3 chrX 114425210 114425210 G A het . 12 +exonic RBMXL3 chrX 114425238 114425238 G A het . 13 +exonic RBMXL3 chrX 114425923 114425923 C A het . 17 +exonic RBMXL3 chrX 114426171 114426171 C T het . 12 +exonic RBMXL3 chrX 114426385 114426385 G A het . 19 +exonic RBMXL3 chrX 114426917 114426917 C T het . 9 +intergenic LRCH2(dist=54593),LUZP4(dist=1055) chrX 114523228 114523228 - AGGA het . 2 +intronic LUZP4 chrX 114524987 114524987 G A het . 2 +intronic LUZP4 chrX 114529389 114529389 T C het . 2 +intergenic LUZP4(dist=123782),PLS3-AS1(dist=86592) chrX 114665905 114665905 G A het . 2 +intergenic LUZP4(dist=163057),PLS3-AS1(dist=47317) chrX 114705180 114705180 A - het . 5 +intergenic LUZP4(dist=166079),PLS3-AS1(dist=44295) chrX 114708202 114708202 T C het . 3 +intronic PLS3 chrX 114842111 114842111 G A het . 2 +intronic PLS3 chrX 114871128 114871128 T - het . 11 +intergenic PLS3(dist=52123),DANT2(dist=19427) chrX 114937302 114937302 G T het . 5 +ncRNA_exonic DANT2 chrX 114956872 114956872 C T het . 3 +ncRNA_intronic DANT1,DANT2 chrX 115005092 115005092 C T het . 4 +ncRNA_intronic DANT2 chrX 115069111 115069111 C A het . 2 +ncRNA_intronic DANT2 chrX 115071807 115071807 A G het . 2 +ncRNA_intronic DANT2 chrX 115072924 115072924 C G het . 3 +intergenic DANT2(dist=17097),AGTR2(dist=199417) chrX 115102541 115102541 T - het . 3 +intergenic DANT2(dist=68164),AGTR2(dist=148350) chrX 115153608 115153608 G A het . 2 +intergenic DANT2(dist=89911),AGTR2(dist=126603) chrX 115175355 115175355 T C het . 4 +intergenic DANT2(dist=133025),AGTR2(dist=83489) chrX 115218469 115218469 C G het . 2 +intergenic DANT2(dist=177922),AGTR2(dist=38592) chrX 115263366 115263366 C T het . 2 +intergenic DANT2(dist=187196),AGTR2(dist=29318) chrX 115272640 115272640 C A het . 2 +intergenic DANT2(dist=187198),AGTR2(dist=29316) chrX 115272642 115272642 C A het . 2 +intergenic DANT2(dist=188342),AGTR2(dist=28172) chrX 115273786 115273786 A T het . 1 +intergenic DANT2(dist=190836),AGTR2(dist=25678) chrX 115276280 115276280 T G het . 2 +intergenic DANT2(dist=191913),AGTR2(dist=24601) chrX 115277357 115277357 G C het . 2 +intergenic DANT2(dist=214740),AGTR2(dist=1774) chrX 115300184 115300184 A G het . 1 +UTR3 AGTR2(NM_000686:c.*199G>T) chrX 115304824 115304824 G T het . 13 +UTR3 AGTR2(NM_000686:c.*205A>G) chrX 115304830 115304830 A G het . 12 +intergenic AGTR2(dist=76498),SLC6A14(dist=185024) chrX 115382723 115382723 C T het . 2 +intronic SLC6A14 chrX 115568092 115568092 A T het . 2 +intronic SLC6A14 chrX 115572430 115572430 T C het . 4 +intronic SLC6A14 chrX 115575956 115575956 T C het . 13 +intronic SLC6A14 chrX 115575989 115575989 A C het . 21 +intronic SLC6A14 chrX 115584402 115584402 C G het . 8 +intronic SLC6A14 chrX 115585678 115585678 C G het . 4 +intronic SLC6A14 chrX 115586016 115586016 C T het . 6 +intronic SLC6A14 chrX 115586325 115586325 G A het . 12 +intronic SLC6A14 chrX 115586856 115586856 A T het . 2 +intergenic CT83(dist=44024),LOC100126447(dist=306681) chrX 115638218 115638218 - T het . 2 +intergenic CT83(dist=153117),LOC100126447(dist=197588) chrX 115747311 115747311 T C het . 2 +intergenic CT83(dist=184526),LOC100126447(dist=166179) chrX 115778720 115778720 C A het . 2 +intergenic CT83(dist=204950),LOC100126447(dist=145755) chrX 115799144 115799144 A G het . 2 +intergenic CT83(dist=206300),LOC100126447(dist=144405) chrX 115800494 115800494 A G het . 2 +intergenic CT83(dist=209537),LOC100126447(dist=141168) chrX 115803731 115803731 - TATC het . 6 +intergenic CT83(dist=210813),LOC100126447(dist=139892) chrX 115805007 115805007 G C het . 7 +intergenic CT83(dist=213129),LOC100126447(dist=137576) chrX 115807323 115807323 T C het . 4 +intergenic CT83(dist=213586),LOC100126447(dist=137119) chrX 115807780 115807780 T C het . 8 +intergenic CT83(dist=218040),LOC100126447(dist=132665) chrX 115812234 115812234 T C het . 2 +intergenic CT83(dist=218067),LOC100126447(dist=132638) chrX 115812261 115812261 A C het . 2 +intergenic CT83(dist=233844),LOC100126447(dist=116861) chrX 115828038 115828038 G C het . 18 +intergenic CT83(dist=243659),LOC100126447(dist=107046) chrX 115837853 115837853 A C het . 2 +intergenic CT83(dist=312337),LOC100126447(dist=38368) chrX 115906531 115906531 T G het . 2 +intergenic CT83(dist=312378),LOC100126447(dist=38327) chrX 115906572 115906572 A - het . 2 +intergenic CT83(dist=333463),LOC100126447(dist=17242) chrX 115927657 115927657 A - het . 2 +intergenic LOC100126447(dist=43979),KLHL13(dist=1035969) chrX 115995807 115995807 C T het . 2 +intergenic LOC100126447(dist=68377),KLHL13(dist=1011571) chrX 116020205 116020205 G A het . 2 +intergenic LOC100126447(dist=71053),KLHL13(dist=1008895) chrX 116022881 116022881 T - het . 2 +intergenic LOC100126447(dist=111726),KLHL13(dist=968222) chrX 116063554 116063554 G - het . 3 +intergenic LOC100126447(dist=145091),KLHL13(dist=934857) chrX 116096919 116096919 T C het . 7 +intergenic LOC100126447(dist=145679),KLHL13(dist=934267) chrX 116097507 116097509 GAC - het . 20 +intergenic LOC100126447(dist=163107),KLHL13(dist=916841) chrX 116114935 116114935 - A het . 2 +intergenic LOC100126447(dist=172702),KLHL13(dist=907246) chrX 116124530 116124530 A G het . 6 +intergenic LOC100126447(dist=203254),KLHL13(dist=876694) chrX 116155082 116155082 G A het . 2 +intergenic LOC100126447(dist=232531),KLHL13(dist=847417) chrX 116184359 116184359 G A het . 1 +intergenic LOC100126447(dist=255131),KLHL13(dist=824817) chrX 116206959 116206959 G A het . 2 +intergenic LOC100126447(dist=268710),KLHL13(dist=811238) chrX 116220538 116220538 G A het . 3 +intergenic LOC100126447(dist=269608),KLHL13(dist=810340) chrX 116221436 116221436 A T het . 2 +intergenic LOC100126447(dist=365044),KLHL13(dist=714904) chrX 116316872 116316872 T C het . 2 +intergenic LOC100126447(dist=395999),KLHL13(dist=683949) chrX 116347827 116347827 A C het . 2 +intergenic LOC100126447(dist=432520),KLHL13(dist=647428) chrX 116384348 116384348 T C het . 2 +intergenic LOC100126447(dist=437114),KLHL13(dist=642834) chrX 116388942 116388942 T C het . 2 +intergenic LOC100126447(dist=501348),KLHL13(dist=578600) chrX 116453176 116453176 G A het . 2 +intergenic LOC100126447(dist=501430),KLHL13(dist=578518) chrX 116453258 116453258 G A het . 1 +intergenic LOC100126447(dist=501449),KLHL13(dist=578499) chrX 116453277 116453277 C T het . 2 +intergenic LOC100126447(dist=579917),KLHL13(dist=500031) chrX 116531745 116531745 C T het . 3 +intergenic LOC100126447(dist=580236),KLHL13(dist=499712) chrX 116532064 116532064 G A het . 6 +intergenic LOC100126447(dist=580295),KLHL13(dist=499653) chrX 116532123 116532123 T C het . 8 +intergenic LOC100126447(dist=592757),KLHL13(dist=487191) chrX 116544585 116544585 G T het . 2 +intergenic LOC100126447(dist=860798),KLHL13(dist=219150) chrX 116812626 116812626 C T het . 2 +intergenic LOC100126447(dist=883525),KLHL13(dist=196423) chrX 116835353 116835353 G A het . 2 +intergenic LOC100126447(dist=918374),KLHL13(dist=161574) chrX 116870202 116870202 A G het . 2 +intergenic LOC100126447(dist=927517),KLHL13(dist=152431) chrX 116879345 116879345 C - het . 2 +intergenic LOC100126447(dist=1041736),KLHL13(dist=38212) chrX 116993564 116993564 C T het . 2 +UTR5 KLHL13(NM_033495:c.-19G>T) chrX 117106810 117106810 C A het . 17 +intronic KLHL13 chrX 117117399 117117399 A - het . 9 +intergenic KLHL13(dist=11429),WDR44(dist=217304) chrX 117262732 117262732 - G het . 6 +intergenic KLHL13(dist=80719),WDR44(dist=148014) chrX 117332022 117332022 C T het . 2 +intergenic KLHL13(dist=82314),WDR44(dist=146419) chrX 117333617 117333617 G C het . 2 +intergenic KLHL13(dist=100400),WDR44(dist=128333) chrX 117351703 117351703 T C het . 3 +intergenic KLHL13(dist=116404),WDR44(dist=112329) chrX 117367707 117367707 C T het . 2 +intergenic KLHL13(dist=149909),WDR44(dist=78824) chrX 117401212 117401212 A C het . 2 +intergenic KLHL13(dist=159664),WDR44(dist=69064) chrX 117410967 117410972 TTCTTC - het . 2 +intergenic KLHL13(dist=170073),WDR44(dist=58660) chrX 117421376 117421376 T C het . 2 +intergenic KLHL13(dist=172831),WDR44(dist=55902) chrX 117424134 117424134 C T het . 2 +ncRNA_exonic MIR1277 chrX 117520366 117520367 AT - het . 13 +exonic WDR44 chrX 117544870 117544870 C A het . 19 +intergenic WDR44(dist=29646),DOCK11(dist=16303) chrX 117613569 117613569 G C het . 4 +intronic DOCK11 chrX 117646212 117646212 G T het . 2 +intronic DOCK11 chrX 117677349 117677349 G T het . 6 +intronic DOCK11 chrX 117677642 117677642 A G het . 15 +intronic DOCK11 chrX 117679235 117679235 T - het . 6 +intronic DOCK11 chrX 117688749 117688749 C T het . 2 +intronic DOCK11 chrX 117712180 117712180 A T het . 2 +intronic DOCK11 chrX 117718669 117718670 TT AA het . 7 +exonic DOCK11 chrX 117722176 117722176 G A het . 5 +intronic DOCK11 chrX 117733376 117733376 A G het . 4 +intronic DOCK11 chrX 117762110 117762110 T - het . 9 +intronic DOCK11 chrX 117817266 117817266 C T het . 3 +intronic IL13RA1 chrX 117874898 117874898 T C het . 10 +intronic IL13RA1 chrX 117895330 117895330 C A het . 11 +intronic IL13RA1 chrX 117904299 117904299 G C het . 6 +intergenic IL13RA1(dist=21634),ZCCHC12(dist=7576) chrX 117950130 117950130 A - het . 2 +ncRNA_intronic LINC01285 chrX 117993565 117993569 AAAAC - het . 2 +ncRNA_intronic LINC01285 chrX 117994100 117994100 T C het . 5 +ncRNA_intronic LINC01285 chrX 117996552 117996552 A G het . 2 +ncRNA_intronic LINC01285 chrX 118012151 118012151 G A het . 12 +ncRNA_intronic LINC01285 chrX 118012736 118012737 CC - het . 16 +ncRNA_intronic LINC01285 chrX 118012888 118012888 G A het . 18 +ncRNA_intronic LINC01285 chrX 118012977 118012977 - CGC het . 9 +downstream LINC01285(dist=166) chrX 118016143 118016143 T C het . 3 +downstream LINC01285(dist=209) chrX 118016186 118016186 G A het . 2 +intergenic LINC01285(dist=13294),LONRF3(dist=79306) chrX 118029271 118029271 T A het . 2 +intergenic LINC01285(dist=30987),LONRF3(dist=61613) chrX 118046964 118046964 G A het . 3 +intergenic LINC01285(dist=53343),LONRF3(dist=39257) chrX 118069320 118069320 C T het . 2 +exonic LONRF3 chrX 118108785 118108785 T C het . 5 +intronic LONRF3 chrX 118146810 118146810 C T het . 10 +exonic KIAA1210 chrX 118281538 118281538 C A het . 21 +intronic KIAA1210 chrX 118281635 118281635 - C het . 5 +upstream KIAA1210(dist=37) chrX 118284579 118284579 G A het . 2 +intergenic KIAA1210(dist=48334),PGRMC1(dist=37332) chrX 118332876 118332876 G A het . 2 +intergenic LOC101928336(dist=35360),SLC25A43(dist=28325) chrX 118504933 118504933 C T het . 3 +intergenic LOC101928336(dist=44499),SLC25A43(dist=19186) chrX 118514072 118514072 A G het . 5 +intergenic LOC101928336(dist=50055),SLC25A43(dist=13630) chrX 118519628 118519628 G A het . 2 +intergenic LOC101928336(dist=57937),SLC25A43(dist=5748) chrX 118527510 118527510 A G het . 2 +UTR5 SLC25A43(NM_145305:c.-1G>A) chrX 118533366 118533366 G A het . 2 +exonic SLC25A43 chrX 118587003 118587003 C T het . 25 +ncRNA_exonic SLC25A5-AS1 chrX 118602658 118602658 A C het . 5 +ncRNA_exonic SLC25A5-AS1 chrX 118602663 118602663 T G het . 5 +exonic SLC25A5 chrX 118603844 118603844 T G het . 27 +exonic SLC25A5 chrX 118604436 118604436 T C het . 18 +intronic SLC25A5 chrX 118604553 118604553 - A het . 5 +exonic SLC25A5 chrX 118605001 118605001 G T het . 8 +exonic SLC25A5 chrX 118605012 118605012 G C het . 8 +exonic SLC25A5 chrX 118605017 118605017 C T het . 8 +UTR3 SLC25A5(NM_001152:c.*2T>G) chrX 118605023 118605023 T G het . 7 +downstream SLC25A5(dist=218) chrX 118605577 118605577 G A het . 4 +intergenic SLC25A5(dist=25660),CXorf56(dist=41093) chrX 118631019 118631019 C T het . 2 +intergenic SLC25A5(dist=59330),CXorf56(dist=7423) chrX 118664689 118664689 A C het . 2 +intergenic SLC25A5(dist=59481),CXorf56(dist=7272) chrX 118664840 118664840 C A het . 2 +intergenic SLC25A5(dist=64161),CXorf56(dist=2592) chrX 118669520 118669520 G C het . 4 +intergenic SLC25A5(dist=64208),CXorf56(dist=2542) chrX 118669567 118669570 CTTT - het . 3 +intergenic SLC25A5(dist=64292),CXorf56(dist=2461) chrX 118669651 118669651 C T het . 7 +intergenic SLC25A5(dist=64341),CXorf56(dist=2412) chrX 118669700 118669700 - G het . 4 +UTR3 CXorf56(NM_022101:c.*201T>C,NM_001170570:c.*201T>C,NM_001170569:c.*201T>C) chrX 118673489 118673489 A G het . 2 +intronic CXorf56 chrX 118675567 118675567 T G het . 4 +exonic CXorf56 chrX 118678364 118678364 G A het . 13 +intronic CXorf56 chrX 118698458 118698458 G C het . 1 +UTR5 CXorf56(NM_022101:c.-2T>C,NM_001170570:c.-2T>C,NM_001170569:c.-4995T>C) chrX 118699320 118699320 A G het . 5 +intronic UBE2A chrX 118709075 118709075 C T het . 12 +intronic UBE2A chrX 118709567 118709567 - A het . 2 +intronic NKRF chrX 118737264 118737265 AA - het . 4 +intronic SEPT6 chrX 118756484 118756484 T G het . 2 +intronic SEPT6 chrX 118758108 118758108 T - het . 9 +intronic SEPT6 chrX 118758120 118758120 G T het . 13 +intronic SEPT6 chrX 118758128 118758128 T G het . 16 +intergenic SEPT6(dist=49496),SOWAHD(dist=15744) chrX 118876829 118876832 AAAG - het . 2 +intergenic SEPT6(dist=49540),SOWAHD(dist=15703) chrX 118876873 118876873 C T het . 2 +intergenic SEPT6(dist=50034),SOWAHD(dist=15209) chrX 118877367 118877367 A G het . 2 +exonic SOWAHD chrX 118893054 118893054 C A het . 9 +exonic SOWAHD chrX 118893137 118893137 T C het . 13 +exonic SOWAHD chrX 118893413 118893413 T C het . 7 +intronic RPL39 chrX 118920809 118920809 C T het . 4 +intronic RPL39 chrX 118921215 118921215 G C het . 5 +intronic RPL39 chrX 118925450 118925450 A G het . 4 +intergenic RPL39(dist=31240),UPF3B(dist=11127) chrX 118956862 118956862 C T het . 10 +intronic UPF3B chrX 118974507 118974507 A C het . 4 +intronic UPF3B chrX 118975798 118975798 A G het . 19 +intronic UPF3B chrX 118977332 118977332 A G het . 25 +intronic UPF3B chrX 118985598 118985598 C T het . 37 +intronic UPF3B chrX 118985712 118985714 TTT - het . 10 +UTR5 RNF113A(NM_006978:c.-129G>C) chrX 119005705 119005705 C G het . 11 +intronic NDUFA1 chrX 119007023 119007023 - A het . 2 +intronic AKAP14 chrX 119054001 119054001 C T het . 11 +intronic NKAP chrX 119064803 119064803 A - het . 2 +intronic NKAP chrX 119064808 119064808 A C het . 2 +intronic NKAP chrX 119065893 119065893 G A het . 15 +intronic NKAP chrX 119068419 119068419 G A het . 4 +intronic NKAP chrX 119070411 119070411 T A het . 20 +intronic NKAP chrX 119070567 119070567 A T het . 16 +downstream RHOXF1P1(dist=512) chrX 119144162 119144162 G A het . 2 +ncRNA_intronic RHOXF1P1 chrX 119145641 119145641 C T het . 2 +intergenic RHOXF2(dist=40329),NKAPP1(dist=32035) chrX 119338274 119338274 G C het . 3 +exonic ZBTB33 chrX 119387833 119387833 - TGA het . 11 +intronic TMEM255A chrX 119394904 119394904 G T het . 1 +intronic TMEM255A chrX 119421167 119421167 C A het . 7 +intronic ATP1B4 chrX 119510144 119510144 C G het . 14 +UTR3 LAMP2(NM_013995:c.*1468A>G) chrX 119571541 119571541 T C het . 2 +exonic LAMP2 chrX 119590533 119590533 T A het . 35 +intergenic LAMP2(dist=13395),CUL4B(dist=41847) chrX 119616599 119616599 A G het . 3 +UTR3 CUL4B(NM_003588:c.*108G>T,NM_001330624:c.*108G>T,NM_001079872:c.*108G>T) chrX 119660508 119660508 C A het . 7 +intronic CUL4B chrX 119663797 119663797 - T het . 9 +intronic CUL4B chrX 119676897 119676897 A - het . 27 +intronic CUL4B chrX 119677120 119677120 T C het . 3 +exonic MCTS1 chrX 119739984 119739984 G A het . 22 +intronic C1GALT1C1 chrX 119763331 119763331 T A het . 2 +intergenic C1GALT1C1(dist=16313),CT47B1(dist=226131) chrX 119780318 119780321 TTTA - het . 2 +intergenic C1GALT1C1(dist=46030),CT47B1(dist=196417) chrX 119810035 119810035 C G het . 2 +intergenic C1GALT1C1(dist=48858),CT47B1(dist=193589) chrX 119812863 119812863 T C het . 2 +intergenic C1GALT1C1(dist=57739),CT47B1(dist=184708) chrX 119821744 119821744 T G het . 4 +intergenic C1GALT1C1(dist=57925),CT47B1(dist=184522) chrX 119821930 119821930 A G het . 2 +intergenic C1GALT1C1(dist=79052),CT47B1(dist=163395) chrX 119843057 119843057 G A het . 2 +intergenic C1GALT1C1(dist=102849),CT47B1(dist=139598) chrX 119866854 119866854 G A het . 4 +intergenic C1GALT1C1(dist=103263),CT47B1(dist=139184) chrX 119867268 119867268 C T het . 5 +intergenic C1GALT1C1(dist=103315),CT47B1(dist=139132) chrX 119867320 119867320 C G het . 6 +intergenic C1GALT1C1(dist=106868),CT47B1(dist=135579) chrX 119870873 119870873 T C het . 1 +intergenic C1GALT1C1(dist=127258),CT47B1(dist=115189) chrX 119891263 119891263 C T het . 2 +intergenic C1GALT1C1(dist=147680),CT47B1(dist=94767) chrX 119911685 119911685 C T het . 2 +intergenic C1GALT1C1(dist=149213),CT47B1(dist=93234) chrX 119913218 119913218 G A het . 6 +intergenic C1GALT1C1(dist=175957),CT47B1(dist=66490) chrX 119939962 119939962 C A het . 2 +intergenic C1GALT1C1(dist=239577),CT47B1(dist=2869) chrX 120003582 120003583 CC - het . 3 +exonic CT47B1 chrX 120008979 120008979 T C het . 18 +intergenic GLUD2(dist=137879),MIR3672(dist=183151) chrX 120321675 120321675 G C het . 2 +intergenic GLUD2(dist=154456),MIR3672(dist=166574) chrX 120338252 120338252 C A het . 23 +intergenic GLUD2(dist=154547),MIR3672(dist=166483) chrX 120338343 120338343 T G het . 11 +intergenic GLUD2(dist=154632),MIR3672(dist=166398) chrX 120338428 120338428 C T het . 22 +intergenic GLUD2(dist=154858),MIR3672(dist=166172) chrX 120338654 120338654 C T het . 7 +intergenic GLUD2(dist=180923),MIR3672(dist=140107) chrX 120364719 120364719 C T het . 2 +intergenic GLUD2(dist=184999),MIR3672(dist=136031) chrX 120368795 120368795 - A het . 2 +intergenic GLUD2(dist=185566),MIR3672(dist=135464) chrX 120369362 120369362 G A het . 2 +intergenic GLUD2(dist=222706),MIR3672(dist=98324) chrX 120406502 120406502 C A het . 2 +intergenic GLUD2(dist=318096),MIR3672(dist=2934) chrX 120501892 120501892 G A het . 2 +intergenic MIR3672(dist=28452),GRIA3(dist=1784737) chrX 120533359 120533359 A T het . 2 +intergenic MIR3672(dist=65252),GRIA3(dist=1747937) chrX 120570159 120570159 A - het . 2 +intergenic MIR3672(dist=83761),GRIA3(dist=1729428) chrX 120588668 120588668 A G het . 2 +intergenic MIR3672(dist=94050),GRIA3(dist=1719139) chrX 120598957 120598957 C G het . 3 +intergenic MIR3672(dist=451229),GRIA3(dist=1361960) chrX 120956136 120956136 G C het . 2 +intergenic MIR3672(dist=452321),GRIA3(dist=1360868) chrX 120957228 120957228 A T het . 2 +intergenic MIR3672(dist=476853),GRIA3(dist=1336336) chrX 120981760 120981760 A C het . 2 +intergenic MIR3672(dist=530326),GRIA3(dist=1282859) chrX 121035233 121035237 TTGAG - het . 3 +intergenic MIR3672(dist=530396),GRIA3(dist=1282793) chrX 121035303 121035303 G A het . 2 +intergenic MIR3672(dist=556610),GRIA3(dist=1256579) chrX 121061517 121061517 - A het . 2 +intergenic MIR3672(dist=568135),GRIA3(dist=1245054) chrX 121073042 121073042 G A het . 2 +intergenic MIR3672(dist=611953),GRIA3(dist=1201236) chrX 121116860 121116860 A C het . 2 +intergenic MIR3672(dist=629835),GRIA3(dist=1183354) chrX 121134742 121134742 T C het . 2 +intergenic MIR3672(dist=998229),GRIA3(dist=814960) chrX 121503136 121503136 A G het . 2 +intergenic MIR3672(dist=1004719),GRIA3(dist=808470) chrX 121509626 121509626 A G het . 5 +intergenic MIR3672(dist=1086770),GRIA3(dist=726419) chrX 121591677 121591677 G T het . 2 +intergenic MIR3672(dist=1087107),GRIA3(dist=726082) chrX 121592014 121592014 G A het . 3 +intergenic MIR3672(dist=1138864),GRIA3(dist=674325) chrX 121643771 121643771 C T het . 2 +intergenic MIR3672(dist=1173815),GRIA3(dist=639374) chrX 121678722 121678722 T C het . 1 +intergenic MIR3672(dist=1201624),GRIA3(dist=611565) chrX 121706531 121706531 T C het . 4 +intergenic MIR3672(dist=1254536),GRIA3(dist=558653) chrX 121759443 121759443 T A het . 2 +intergenic MIR3672(dist=1255018),GRIA3(dist=558171) chrX 121759925 121759925 G C het . 1 +intergenic MIR3672(dist=1324974),GRIA3(dist=488215) chrX 121829881 121829881 T G het . 2 +intergenic MIR3672(dist=1358187),GRIA3(dist=455002) chrX 121863094 121863094 G - het . 2 +intergenic MIR3672(dist=1472993),GRIA3(dist=340196) chrX 121977900 121977900 G A het . 2 +intergenic MIR3672(dist=1474152),GRIA3(dist=339037) chrX 121979059 121979059 A G het . 2 +intergenic MIR3672(dist=1479913),GRIA3(dist=333276) chrX 121984820 121984820 T C het . 2 +intergenic MIR3672(dist=1526897),GRIA3(dist=286292) chrX 122031804 122031804 A C het . 2 +intergenic MIR3672(dist=1527671),GRIA3(dist=285518) chrX 122032578 122032578 G A het . 2 +intergenic MIR3672(dist=1599811),GRIA3(dist=213378) chrX 122104718 122104718 G C het . 2 +intergenic MIR3672(dist=1607820),GRIA3(dist=205369) chrX 122112727 122112727 T G het . 2 +UTR5 GRIA3(NM_001256743:c.-2_-1insG,NM_007325:c.-2_-1insG,NM_000828:c.-2_-1insG) chrX 122318386 122318386 - G het . 24 +exonic GRIA3 chrX 122336600 122336600 - G het . 12 +intronic GRIA3 chrX 122338205 122338205 T A het . 12 +intronic GRIA3 chrX 122338221 122338221 C A het . 19 +UTR3 GRIA3(NM_001256743:c.*139C>T) chrX 122338409 122338409 C T het . 12 +intronic GRIA3 chrX 122385880 122385880 C T het . 2 +intronic GRIA3 chrX 122433942 122433942 T C het . 1 +intronic GRIA3 chrX 122434450 122434450 G A het . 2 +intronic GRIA3 chrX 122434473 122434473 - TTTG het . 2 +intronic GRIA3 chrX 122434668 122434668 T C het . 3 +intronic GRIA3 chrX 122528803 122528803 T C het . 26 +exonic GRIA3 chrX 122537277 122537277 T C het . 39 +intronic GRIA3 chrX 122537418 122537418 C T het . 25 +exonic GRIA3 chrX 122538684 122538684 C T het . 27 +intronic GRIA3 chrX 122562148 122562148 C T het . 5 +intronic GRIA3 chrX 122593583 122593583 T C het . 2 +intronic GRIA3 chrX 122598635 122598635 - A het . 10 +intronic GRIA3 chrX 122616963 122616963 T - het . 6 +intergenic GRIA3(dist=15449),THOC2(dist=94197) chrX 122640215 122640215 C G het . 2 +intergenic GRIA3(dist=23688),THOC2(dist=85958) chrX 122648454 122648454 T C het . 10 +intergenic GRIA3(dist=45678),THOC2(dist=63968) chrX 122670444 122670444 A G het . 2 +intergenic GRIA3(dist=67402),THOC2(dist=42244) chrX 122692168 122692168 A T het . 1 +intergenic GRIA3(dist=67405),THOC2(dist=42241) chrX 122692171 122692171 T C het . 1 +intergenic GRIA3(dist=67635),THOC2(dist=42011) chrX 122692401 122692401 G T het . 8 +intergenic GRIA3(dist=83431),THOC2(dist=26215) chrX 122708197 122708197 G C het . 2 +intergenic GRIA3(dist=85968),THOC2(dist=23678) chrX 122710734 122710734 T C het . 2 +intergenic GRIA3(dist=86017),THOC2(dist=23629) chrX 122710783 122710783 A G het . 2 +intronic THOC2 chrX 122739079 122739079 T C het . 2 +intronic THOC2 chrX 122757461 122757461 C A het . 6 +intronic THOC2 chrX 122757551 122757551 A C het . 19 +intronic THOC2 chrX 122758529 122758529 G A het . 13 +intronic THOC2 chrX 122820576 122820576 G C het . 12 +intronic THOC2 chrX 122831381 122831381 T C het . 5 +intergenic THOC2(dist=32177),XIAP(dist=94581) chrX 122899081 122899081 - CCG het . 6 +intergenic THOC2(dist=59693),XIAP(dist=67065) chrX 122926597 122926597 G A het . 2 +intergenic THOC2(dist=105147),XIAP(dist=21611) chrX 122972051 122972051 A G het . 3 +intergenic THOC2(dist=117341),XIAP(dist=9417) chrX 122984245 122984245 T C het . 2 +intronic XIAP chrX 123013166 123013166 T A het . 1 +intronic XIAP chrX 123024901 123024901 G A het . 4 +intronic XIAP chrX 123034227 123034227 A G het . 13 +exonic XIAP chrX 123034511 123034511 A C het . 33 +intronic XIAP chrX 123040729 123040729 C T het . 6 +UTR3 XIAP(NM_001204401:c.*803G>T,NM_001167:c.*803G>T) chrX 123041834 123041834 G T het . 16 +UTR3 XIAP(NM_001204401:c.*1393G>A,NM_001167:c.*1393G>A) chrX 123042424 123042424 G A het . 10 +UTR3 XIAP(NM_001204401:c.*1676T>C,NM_001167:c.*1676T>C) chrX 123042707 123042707 T C het . 23 +UTR3 XIAP(NM_001204401:c.*2294_*2298delGTATA,NM_001167:c.*2294_*2298delGTATA) chrX 123043325 123043329 GTATA - het . 21 +UTR3 XIAP(NM_001204401:c.*2674A>C,NM_001167:c.*2674A>C) chrX 123043705 123043705 A C het . 36 +UTR3 XIAP(NM_001204401:c.*2845C>T,NM_001167:c.*2845C>T) chrX 123043876 123043876 C T het . 21 +UTR3 XIAP(NM_001204401:c.*3383T>C,NM_001167:c.*3383T>C) chrX 123044414 123044414 T C het . 15 +UTR3 XIAP(NM_001204401:c.*4015A>G,NM_001167:c.*4015A>G) chrX 123045046 123045046 A G het . 31 +UTR3 XIAP(NM_001204401:c.*4610C>T,NM_001167:c.*4610C>T) chrX 123045641 123045641 C T het . 24 +UTR3 XIAP(NM_001204401:c.*4884C>T,NM_001167:c.*4884C>T) chrX 123045915 123045915 C T het . 31 +UTR3 XIAP(NM_001204401:c.*5035_*5036insAAA,NM_001167:c.*5035_*5036insAAA) chrX 123046066 123046066 - AAA het . 18 +UTR3 XIAP(NM_001204401:c.*5068_*5069insT,NM_001167:c.*5068_*5069insT) chrX 123046099 123046099 - T het . 26 +UTR3 XIAP(NM_001204401:c.*5168delA,NM_001167:c.*5168delA) chrX 123046199 123046199 A - het . 14 +UTR3 XIAP(NM_001204401:c.*5241A>T,NM_001167:c.*5241A>T) chrX 123046272 123046272 A T het . 22 +UTR3 XIAP(NM_001204401:c.*5504_*5505delTG,NM_001167:c.*5504_*5505delTG) chrX 123046535 123046536 TG - het . 7 +UTR3 XIAP(NM_001204401:c.*5507T>A,NM_001167:c.*5507T>A) chrX 123046538 123046538 T A het . 7 +UTR3 XIAP(NM_001204401:c.*5892T>G,NM_001167:c.*5892T>G) chrX 123046923 123046923 T G het . 6 +UTR3 XIAP(NM_001204401:c.*6251C>T,NM_001167:c.*6251C>T) chrX 123047282 123047282 C T het . 17 +downstream XIAP(dist=97) chrX 123047926 123047926 G T het . 5 +intergenic XIAP(dist=39369),LOC101928402(dist=5885) chrX 123087198 123087198 - AAA het . 3 +intronic STAG2 chrX 123181551 123181551 G A het . 4 +intronic STAG2 chrX 123184950 123184951 TT - het . 4 +intergenic STAG2(dist=25654),TEX13D(dist=204351) chrX 123262159 123262159 A G het . 4 +intergenic STAG2(dist=51727),TEX13D(dist=178278) chrX 123288232 123288232 C T het . 1 +intergenic STAG2(dist=68155),TEX13D(dist=161849) chrX 123304660 123304661 AT - het . 2 +intergenic STAG2(dist=71189),TEX13D(dist=158816) chrX 123307694 123307694 C T het . 2 +exonic TEX13D chrX 123466811 123466811 A G het . 3 +intronic SH2D1A chrX 123498120 123498120 C T het . 6 +intronic SH2D1A chrX 123498355 123498355 C A het . 14 +intronic SH2D1A chrX 123498363 123498363 T - het . 14 +intronic SH2D1A chrX 123498379 123498379 C G het . 15 +intronic SH2D1A chrX 123503943 123503943 C A het . 18 +intronic TENM1 chrX 123516374 123516374 T A het . 4 +intronic TENM1 chrX 123538802 123538802 - AAAC het . 6 +exonic TENM1 chrX 123540315 123540315 G T het . 14 +exonic TENM1 chrX 123554646 123554646 T C het . 11 +intronic TENM1 chrX 123554726 123554726 A G het . 5 +intronic TENM1 chrX 123566241 123566241 - TTTA het . 4 +intronic TENM1 chrX 123587110 123587110 C A het . 8 +exonic TENM1 chrX 123630900 123630900 G A het . 21 +intronic TENM1 chrX 123656522 123656522 G - het . 1 +intronic TENM1 chrX 124015504 124015504 C T het . 3 +intronic TENM1 chrX 124074409 124074409 A C het . 2 +intronic TENM1 chrX 124096658 124096658 T C het . 2 +intergenic TENM1(dist=82631),TEX13C(dist=273423) chrX 124180297 124180297 T G het . 2 +intergenic TENM1(dist=158081),TEX13C(dist=197973) chrX 124255747 124255747 C T het . 1 +intergenic TENM1(dist=289933),TEX13C(dist=66121) chrX 124387599 124387599 C T het . 2 +exonic TEX13C chrX 124456790 124456790 A G het . 21 +intergenic TEX13C(dist=27273),LOC101928495(dist=757409) chrX 124486336 124486336 T C het . 2 +intergenic TEX13C(dist=137726),LOC101928495(dist=646956) chrX 124596789 124596789 C G het . 2 +intergenic TEX13C(dist=147426),LOC101928495(dist=637256) chrX 124606489 124606489 C T het . 2 +intergenic TEX13C(dist=177131),LOC101928495(dist=607551) chrX 124636194 124636194 C T het . 2 +intergenic TEX13C(dist=182701),LOC101928495(dist=601981) chrX 124641764 124641764 C T het . 4 +intergenic TEX13C(dist=232866),LOC101928495(dist=551816) chrX 124691929 124691929 A - het . 3 +intergenic TEX13C(dist=232932),LOC101928495(dist=551750) chrX 124691995 124691995 G A het . 3 +intergenic TEX13C(dist=233801),LOC101928495(dist=550881) chrX 124692864 124692864 T C het . 2 +intergenic TEX13C(dist=253378),LOC101928495(dist=531304) chrX 124712441 124712441 A G het . 2 +intergenic TEX13C(dist=253389),LOC101928495(dist=531293) chrX 124712452 124712452 C T het . 2 +intergenic TEX13C(dist=272158),LOC101928495(dist=512524) chrX 124731221 124731221 A - het . 2 +intergenic TEX13C(dist=290479),LOC101928495(dist=494203) chrX 124749542 124749542 G T het . 2 +intergenic TEX13C(dist=299383),LOC101928495(dist=485299) chrX 124758446 124758446 G A het . 2 +intergenic TEX13C(dist=302688),LOC101928495(dist=481994) chrX 124761751 124761751 T G het . 2 +intergenic TEX13C(dist=408659),LOC101928495(dist=376023) chrX 124867722 124867722 T - het . 2 +intergenic TEX13C(dist=508104),LOC101928495(dist=276578) chrX 124967167 124967167 G A het . 2 +intergenic TEX13C(dist=548892),LOC101928495(dist=235787) chrX 125007955 125007958 TTGT - het . 2 +intergenic TEX13C(dist=581370),LOC101928495(dist=203312) chrX 125040433 125040433 G A het . 3 +intergenic TEX13C(dist=583420),LOC101928495(dist=201262) chrX 125042483 125042483 G A het . 3 +intergenic TEX13C(dist=583422),LOC101928495(dist=201260) chrX 125042485 125042485 G A het . 3 +intergenic TEX13C(dist=639063),LOC101928495(dist=145619) chrX 125098126 125098126 - AGAA het . 2 +intergenic TEX13C(dist=675484),LOC101928495(dist=109198) chrX 125134547 125134547 G A het . 1 +intergenic TEX13C(dist=675509),LOC101928495(dist=109173) chrX 125134572 125134572 T A het . 3 +intergenic TEX13C(dist=705108),LOC101928495(dist=79574) chrX 125164171 125164171 G A het . 2 +intergenic DCAF12L2(dist=52154),DCAF12L1(dist=331132) chrX 125352234 125352234 T C het . 2 +intergenic DCAF12L2(dist=93519),DCAF12L1(dist=289767) chrX 125393599 125393599 C T het . 2 +intergenic DCAF12L2(dist=206101),DCAF12L1(dist=177185) chrX 125506181 125506181 T G het . 2 +intergenic DCAF12L2(dist=207485),DCAF12L1(dist=175801) chrX 125507565 125507565 C T het . 2 +intergenic DCAF12L2(dist=232343),DCAF12L1(dist=150943) chrX 125532423 125532423 G A het . 2 +intergenic DCAF12L2(dist=254186),DCAF12L1(dist=129100) chrX 125554266 125554266 T G het . 2 +intergenic DCAF12L2(dist=260430),DCAF12L1(dist=122856) chrX 125560510 125560510 C T het . 2 +intergenic DCAF12L2(dist=277659),DCAF12L1(dist=105627) chrX 125577739 125577739 C G het . 2 +intergenic DCAF12L2(dist=331504),DCAF12L1(dist=51782) chrX 125631584 125631584 T C het . 2 +intergenic DCAF12L2(dist=337246),DCAF12L1(dist=46040) chrX 125637326 125637326 C T het . 2 +intergenic DCAF12L2(dist=355359),DCAF12L1(dist=27927) chrX 125655439 125655439 G A het . 2 +intergenic DCAF12L2(dist=369663),DCAF12L1(dist=13623) chrX 125669743 125669743 A T het . 2 +intergenic DCAF12L1(dist=49829),PRR32(dist=217076) chrX 125736671 125736671 C A het . 2 +intergenic DCAF12L1(dist=68277),PRR32(dist=198628) chrX 125755119 125755119 A C het . 2 +intergenic DCAF12L1(dist=82803),PRR32(dist=184102) chrX 125769645 125769645 G A het . 2 +intergenic DCAF12L1(dist=83298),PRR32(dist=183607) chrX 125770140 125770140 C T het . 1 +intergenic DCAF12L1(dist=106384),PRR32(dist=160521) chrX 125793226 125793226 T C het . 4 +intergenic DCAF12L1(dist=116285),PRR32(dist=150620) chrX 125803127 125803127 C T het . 2 +intergenic DCAF12L1(dist=140964),PRR32(dist=125941) chrX 125827806 125827806 T G het . 2 +intergenic DCAF12L1(dist=148830),PRR32(dist=118075) chrX 125835672 125835672 G A het . 2 +intergenic DCAF12L1(dist=152240),PRR32(dist=114665) chrX 125839082 125839082 A C het . 2 +intergenic DCAF12L1(dist=168310),PRR32(dist=98595) chrX 125855152 125855152 A C het . 2 +intergenic DCAF12L1(dist=169210),PRR32(dist=97695) chrX 125856052 125856052 C T het . 2 +intergenic DCAF12L1(dist=205853),PRR32(dist=61052) chrX 125892695 125892695 A G het . 2 +intergenic DCAF12L1(dist=212356),PRR32(dist=54549) chrX 125899198 125899198 G A het . 2 +intronic PRR32 chrX 125953932 125953932 A G het . 8 +exonic PRR32 chrX 125955428 125955428 G A het . 32 +downstream PRR32(dist=4) chrX 125955772 125955772 C T het . 3 +downstream PRR32(dist=267) chrX 125956035 125956035 A T het . 2 +intergenic PRR32(dist=67918),ACTRT1(dist=1161255) chrX 126023686 126023686 A G het . 2 +intergenic PRR32(dist=77910),ACTRT1(dist=1151263) chrX 126033678 126033678 T C het . 2 +intergenic PRR32(dist=91025),ACTRT1(dist=1138148) chrX 126046793 126046793 T G het . 2 +intergenic PRR32(dist=111465),ACTRT1(dist=1117708) chrX 126067233 126067233 A G het . 2 +intergenic PRR32(dist=172668),ACTRT1(dist=1056505) chrX 126128436 126128436 A G het . 2 +intergenic PRR32(dist=252600),ACTRT1(dist=976573) chrX 126208368 126208368 G A het . 2 +intergenic PRR32(dist=257888),ACTRT1(dist=971285) chrX 126213656 126213656 A G het . 2 +intergenic PRR32(dist=257893),ACTRT1(dist=971280) chrX 126213661 126213661 T A het . 2 +intergenic PRR32(dist=265423),ACTRT1(dist=963746) chrX 126221191 126221195 TTTAT - het . 2 +intergenic PRR32(dist=269822),ACTRT1(dist=959351) chrX 126225590 126225590 T C het . 2 +intergenic PRR32(dist=276227),ACTRT1(dist=952946) chrX 126231995 126231995 - T het . 3 +intergenic PRR32(dist=534078),ACTRT1(dist=695095) chrX 126489846 126489846 A T het . 3 +intergenic PRR32(dist=781959),ACTRT1(dist=447214) chrX 126737727 126737727 C T het . 2 +intergenic PRR32(dist=783220),ACTRT1(dist=445953) chrX 126738988 126738988 A G het . 3 +intergenic PRR32(dist=783235),ACTRT1(dist=445938) chrX 126739003 126739003 A C het . 2 +intergenic PRR32(dist=783266),ACTRT1(dist=445907) chrX 126739034 126739034 G C het . 2 +intergenic PRR32(dist=794399),ACTRT1(dist=434774) chrX 126750167 126750167 A G het . 2 +intergenic PRR32(dist=801672),ACTRT1(dist=427501) chrX 126757440 126757440 T C het . 10 +intergenic PRR32(dist=801737),ACTRT1(dist=427436) chrX 126757505 126757505 C T het . 4 +intergenic PRR32(dist=816183),ACTRT1(dist=412990) chrX 126771951 126771951 A G het . 2 +intergenic PRR32(dist=974789),ACTRT1(dist=254384) chrX 126930557 126930557 G C het . 2 +intergenic PRR32(dist=982245),ACTRT1(dist=246928) chrX 126938013 126938013 - A het . 2 +intergenic PRR32(dist=1008265),ACTRT1(dist=220908) chrX 126964033 126964033 C T het . 2 +intergenic PRR32(dist=1087274),ACTRT1(dist=141899) chrX 127043042 127043042 C T het . 2 +intergenic PRR32(dist=1097151),ACTRT1(dist=132022) chrX 127052919 127052919 T C het . 3 +intergenic PRR32(dist=1122375),ACTRT1(dist=106798) chrX 127078143 127078143 G C het . 2 +intergenic PRR32(dist=1138601),ACTRT1(dist=90572) chrX 127094369 127094369 T - het . 2 +intergenic PRR32(dist=1171963),ACTRT1(dist=57210) chrX 127127731 127127731 G A het . 3 +intergenic PRR32(dist=1174643),ACTRT1(dist=54530) chrX 127130411 127130411 G A het . 2 +intergenic PRR32(dist=1175894),ACTRT1(dist=53279) chrX 127131662 127131662 T G het . 2 +intergenic PRR32(dist=1180073),ACTRT1(dist=49100) chrX 127135841 127135841 A G het . 2 +intergenic ACTRT1(dist=75227),SMARCA1(dist=1318869) chrX 127261609 127261609 G A het . 2 +intergenic ACTRT1(dist=159948),SMARCA1(dist=1234148) chrX 127346330 127346330 C G het . 3 +intergenic ACTRT1(dist=359101),SMARCA1(dist=1034995) chrX 127545483 127545483 G A het . 2 +intergenic ACTRT1(dist=397334),SMARCA1(dist=996762) chrX 127583716 127583716 G T het . 2 +intergenic ACTRT1(dist=471307),SMARCA1(dist=922789) chrX 127657689 127657689 C T het . 4 +intergenic ACTRT1(dist=555471),SMARCA1(dist=838625) chrX 127741853 127741853 C G het . 2 +intergenic ACTRT1(dist=602369),SMARCA1(dist=791727) chrX 127788751 127788751 A G het . 2 +intergenic ACTRT1(dist=621102),SMARCA1(dist=772994) chrX 127807484 127807484 G A het . 2 +intergenic ACTRT1(dist=662838),SMARCA1(dist=731258) chrX 127849220 127849220 C T het . 5 +intergenic ACTRT1(dist=663075),SMARCA1(dist=731021) chrX 127849457 127849457 A G het . 3 +intergenic ACTRT1(dist=677188),SMARCA1(dist=716908) chrX 127863570 127863570 C A het . 3 +intergenic ACTRT1(dist=841704),SMARCA1(dist=552392) chrX 128028086 128028086 A G het . 2 +intergenic ACTRT1(dist=854840),SMARCA1(dist=539256) chrX 128041222 128041222 C G het . 2 +intergenic ACTRT1(dist=884112),SMARCA1(dist=509984) chrX 128070494 128070494 G C het . 2 +intergenic ACTRT1(dist=1081251),SMARCA1(dist=312845) chrX 128267633 128267633 A G het . 2 +intergenic ACTRT1(dist=1081255),SMARCA1(dist=312841) chrX 128267637 128267637 C T het . 2 +intergenic ACTRT1(dist=1379926),SMARCA1(dist=14170) chrX 128566308 128566308 C T het . 2 +intronic SMARCA1 chrX 128620746 128620748 AGT - het . 9 +intronic SMARCA1 chrX 128620787 128620787 - TGATGA het . 10 +intronic SMARCA1 chrX 128625869 128625869 T C het . 4 +intronic SMARCA1 chrX 128633627 128633627 T C het . 8 +UTR5 SMARCA1(NM_003069:c.-29G>A,NM_001282875:c.-29G>A,NM_001282874:c.-29G>A) chrX 128657376 128657376 C T het . 2 +intronic OCRL chrX 128701373 128701373 T A het . 19 +intronic ZDHHC9 chrX 128945694 128945694 A G het . 4 +intronic ZDHHC9 chrX 128948511 128948511 T C het . 2 +intronic ZDHHC9 chrX 128957640 128957640 T C het . 24 +intronic UTP14A chrX 129042495 129042495 C A het . 11 +intronic UTP14A chrX 129055621 129055621 - A het . 10 +exonic BCORL1 chrX 129147079 129147079 T C het . 11 +intronic BCORL1 chrX 129166709 129166712 TATT - het . 2 +exonic ELF4 chrX 129201179 129201179 C T het . 12 +intronic ELF4 chrX 129244133 129244133 T G het . 3 +intronic ELF4 chrX 129244154 129244154 T G het . 3 +intronic ELF4 chrX 129244173 129244174 CT AG het . 1 +upstream ELF4(dist=175) chrX 129244863 129244863 - T het . 2 +upstream ELF4(dist=180) chrX 129244868 129244868 G C het . 2 +upstream ELF4(dist=211) chrX 129244899 129244899 A C het . 2 +intronic AIFM1 chrX 129267465 129267465 A - het . 9 +intronic AIFM1 chrX 129267606 129267606 T - het . 7 +intronic AIFM1 chrX 129269980 129269980 G A het . 17 +exonic AIFM1 chrX 129283520 129283520 A G het . 31 +intronic AIFM1 chrX 129283786 129283786 A G het . 5 +exonic AIFM1 chrX 129290500 129290500 C T het . 37 +intronic AIFM1 chrX 129290699 129290699 T C het . 6 +exonic RAB33A chrX 129306052 129306052 C G het . 13 +intergenic RAB33A(dist=11248),ZNF280C(dist=6581) chrX 129330092 129330092 A G het . 3 +exonic ZNF280C chrX 129339104 129339104 C A het . 25 +exonic ZNF280C chrX 129349295 129349295 T G het . 9 +intronic ZNF280C chrX 129353715 129353715 T C het . 3 +intronic ZNF280C chrX 129354240 129354240 C A het . 12 +intronic ZNF280C chrX 129354255 129354256 AA - het . 11 +intergenic SLC25A14(dist=7776),GPR119(dist=3208) chrX 129515111 129515111 - T het . 6 +intronic RBMX2 chrX 129536145 129536145 T C het . 8 +intronic RBMX2 chrX 129542882 129542882 A G het . 2 +intergenic RBMX2(dist=31746),FAM45BP(dist=49539) chrX 129579376 129579376 T - het . 2 +intergenic RBMX2(dist=75047),FAM45BP(dist=6238) chrX 129622677 129622677 A G het . 2 +ncRNA_exonic FAM45BP chrX 129629728 129629728 C A het . 15 +intergenic FAM45BP(dist=86980),ENOX2(dist=38956) chrX 129718401 129718401 T C het . 3 +intronic ENOX2 chrX 129764938 129764938 - AAAC het . 4 +intronic ARHGAP36 chrX 130217020 130217020 G C het . 2 +intergenic ARHGAP36(dist=10874),IGSF1(dist=172750) chrX 130234733 130234733 C G het . 2 +intergenic ARHGAP36(dist=31237),IGSF1(dist=152387) chrX 130255096 130255096 - C het . 2 +intergenic ARHGAP36(dist=32926),IGSF1(dist=150698) chrX 130256785 130256785 T C het . 2 +intergenic ARHGAP36(dist=45818),IGSF1(dist=137806) chrX 130269677 130269677 A C het . 2 +intergenic ARHGAP36(dist=45820),IGSF1(dist=137804) chrX 130269679 130269679 A C het . 2 +intergenic ARHGAP36(dist=69877),IGSF1(dist=113747) chrX 130293736 130293736 T C het . 2 +intergenic ARHGAP36(dist=127963),IGSF1(dist=55661) chrX 130351822 130351822 T C het . 2 +intronic IGSF1 chrX 130409884 130409884 A T het . 2 +exonic IGSF1 chrX 130410965 130410965 A G het . 9 +intronic IGSF1 chrX 130412178 130412178 C G het . 4 +intronic IGSF1 chrX 130413979 130413979 C T het . 2 +exonic IGSF1 chrX 130416958 130416958 C T het . 15 +exonic IGSF1 chrX 130420006 130420006 T C het . 7 +exonic IGSF1 chrX 130420415 130420415 T C het . 11 +intronic IGSF1 chrX 130423050 130423050 G A het . 4 +UTR5 IGSF1(NM_001170962:c.-2572_-2571insG,NM_001555:c.-2572_-2571insG,NM_001170961:c.-2572_-2571insG,NM_205833:c.-2572_-2571insG) chrX 130423219 130423219 - C het . 22 +upstream IGSF1(dist=984) chrX 130424387 130424387 T C het . 8 +intergenic IGSF1(dist=10280),OR13H1(dist=244365) chrX 130433683 130433683 T C het . 12 +intergenic IGSF1(dist=234319),OR13H1(dist=20326) chrX 130657722 130657722 A G het . 2 +intergenic IGSF1(dist=247957),OR13H1(dist=6688) chrX 130671360 130671360 A - het . 2 +exonic OR13H1 chrX 130678467 130678467 A G het . 11 +exonic OR13H1 chrX 130678596 130678596 C G het . 9 +exonic OR13H1 chrX 130678844 130678844 A C het . 8 +ncRNA_intronic FIRRE chrX 130842210 130842210 T C het . 2 +ncRNA_intronic FIRRE chrX 130923112 130923112 A G het . 2 +ncRNA_intronic FIRRE chrX 130948028 130948028 G A het . 2 +intergenic FIRRE(dist=4823),STK26(dist=187751) chrX 130969494 130969494 C G het . 4 +intergenic FIRRE(dist=35487),STK26(dist=157087) chrX 131000158 131000158 C T het . 2 +intronic FRMD7 chrX 131213998 131213998 T C het . 13 +intronic FRMD7 chrX 131220194 131220194 C T het . 7 +intronic FRMD7 chrX 131231431 131231432 AC - het . 4 +intronic FRMD7 chrX 131233589 131233589 T - het . 18 +UTR3 RAP2C(NM_001271186:c.*7T>C,NM_021183:c.*7T>C,NM_001271187:c.*7T>C) chrX 131348189 131348189 A G het . 5 +intronic MBNL3 chrX 131576411 131576411 T A het . 2 +intergenic MBNL3(dist=2570),HS6ST2(dist=133472) chrX 131626566 131626566 G T het . 5 +ncRNA_intronic HS6ST2-AS1 chrX 131803353 131803354 TC - het . 2 +ncRNA_intronic HS6ST2-AS1 chrX 131803537 131803537 A - het . 3 +intronic HS6ST2 chrX 131857416 131857416 A G het . 2 +intronic HS6ST2 chrX 131955811 131955811 G A het . 2 +intronic HS6ST2 chrX 132064150 132064150 T C het . 7 +intergenic HS6ST2(dist=61862),USP26(dist=2222) chrX 132157285 132157285 T A het . 2 +exonic USP26 chrX 132161673 132161673 C T het . 20 +intergenic USP26(dist=46886),TFDP3(dist=141511) chrX 132209186 132209186 C T het . 2 +intergenic USP26(dist=65367),TFDP3(dist=123030) chrX 132227667 132227667 A - het . 2 +intergenic USP26(dist=115197),TFDP3(dist=73200) chrX 132277497 132277497 G C het . 2 +intergenic USP26(dist=123577),TFDP3(dist=64820) chrX 132285877 132285877 T C het . 2 +intergenic USP26(dist=129081),TFDP3(dist=59316) chrX 132291381 132291381 G A het . 2 +intronic GPC4 chrX 132516790 132516790 A C het . 5 +intergenic GPC4(dist=83792),GPC3(dist=36775) chrX 132632997 132633001 TTTTC - het . 3 +intergenic GPC4(dist=105749),GPC3(dist=14822) chrX 132654954 132654954 G A het . 3 +intergenic GPC4(dist=105753),GPC3(dist=14818) chrX 132654958 132654958 G A het . 3 +intergenic GPC4(dist=105775),GPC3(dist=14796) chrX 132654980 132654980 C A het . 2 +intronic GPC3 chrX 132888208 132888208 A - het . 7 +intronic GPC3 chrX 132904300 132904300 - A het . 2 +intronic GPC3 chrX 132958001 132958001 A - het . 3 +intronic GPC3 chrX 133037178 133037178 A - het . 2 +intergenic GPC3(dist=143396),MIR363(dist=40339) chrX 133263069 133263069 G T het . 3 +intergenic GPC3(dist=181072),MIR363(dist=2663) chrX 133300745 133300745 T C het . 3 +ncRNA_exonic MIR363 chrX 133303465 133303465 G A het . 14 +ncRNA_exonic MIR92A2 chrX 133303627 133303627 C T het . 15 +intergenic MIR106A(dist=28824),CCDC160(dist=38108) chrX 133333132 133333135 TTTG - het . 4 +exonic CCDC160 chrX 133379551 133379551 C T het . 34 +intergenic CCDC160(dist=34253),PHF6(dist=92852) chrX 133414490 133414490 A G het . 2 +intergenic CCDC160(dist=58350),PHF6(dist=68755) chrX 133438587 133438587 A - het . 6 +intronic PHF6 chrX 133511862 133511862 - A het . 17 +intronic PHF6 chrX 133511988 133511988 G A het . 20 +intronic PHF6 chrX 133528163 133528163 - T het . 6 +intronic HPRT1 chrX 133609078 133609078 T - het . 11 +intronic HPRT1 chrX 133609110 133609110 G A het . 17 +upstream MIR424,MIR503,MIR503HG(dist=677) chrX 133681418 133681418 A C het . 2 +intronic PLAC1 chrX 133738931 133738931 C T het . 2 +intronic PLAC1 chrX 133775013 133775013 G T het . 3 +intronic PLAC1 chrX 133848906 133848906 G C het . 3 +intronic FAM122B chrX 133927591 133927591 C T het . 17 +intronic FAM122C chrX 133948734 133948736 AAA - het . 9 +intronic FAM122C chrX 133971062 133971062 C T het . 2 +intronic FAM122C chrX 133983156 133983156 A - het . 6 +intronic MOSPD1 chrX 134025744 134025744 A G het . 4 +UTR3 RTL8B(NM_001078173:c.*244C>A) chrX 134155904 134155904 G T het . 8 +intergenic RTL8C(dist=9729),RTL8A(dist=7659) chrX 134177304 134177304 C G het . 2 +intronic CT55 chrX 134294181 134294181 G C het . 3 +exonic ZNF75D chrX 134421168 134421168 C T het . 20 +intronic ZNF75D chrX 134427607 134427607 T G het . 4 +intronic ZNF75D chrX 134427640 134427640 C G het . 6 +intronic ZNF449 chrX 134493747 134493747 A T het . 10 +intergenic ZNF449(dist=21919),LOC100506790(dist=11097) chrX 134519257 134519257 T A het . 2 +intergenic SMIM10L2A(dist=6365),INTS6L-AS1(dist=85644) chrX 134568364 134568364 G A het . 10 +intergenic SMIM10L2A(dist=6935),INTS6L-AS1(dist=85074) chrX 134568934 134568934 G C het . 14 +intergenic SMIM10L2A(dist=7295),INTS6L-AS1(dist=84714) chrX 134569294 134569294 T C het . 8 +intergenic SMIM10L2A(dist=7930),INTS6L-AS1(dist=84079) chrX 134569929 134569929 C T het . 7 +intergenic SMIM10L2A(dist=10136),INTS6L-AS1(dist=81873) chrX 134572135 134572135 A G het . 3 +intergenic SMIM10L2A(dist=10206),INTS6L-AS1(dist=81803) chrX 134572205 134572205 G T het . 3 +intergenic SMIM10L2A(dist=40849),INTS6L-AS1(dist=51160) chrX 134602848 134602848 A T het . 3 +UTR5 INTS6L(NM_001351601:c.-100T>C,NM_001351606:c.-25974T>C,NM_182540:c.-100T>C,NM_001351605:c.-100T>C,NM_001351604:c.-100T>C,NM_001351603:c.-100T>C) chrX 134654818 134654818 T C het . 3 +intronic INTS6L chrX 134660167 134660167 G A het . 2 +intronic INTS6L chrX 134683149 134683149 A G het . 2 +intronic INTS6L chrX 134683864 134683864 A G het . 3 +intronic INTS6L chrX 134694300 134694300 T C het . 2 +intronic INTS6L chrX 134702715 134702715 T G het . 1 +intronic INTS6L chrX 134703108 134703108 T G het . 2 +intergenic INTS6L(dist=1814),SAGE2P(dist=94107) chrX 134718274 134718274 G A het . 2 +intergenic INTS6L(dist=24692),SAGE2P(dist=71229) chrX 134741152 134741152 C T het . 4 +intergenic INTS6L(dist=25158),SAGE2P(dist=70763) chrX 134741618 134741618 G A het . 2 +intergenic INTS6L(dist=32331),SAGE2P(dist=63590) chrX 134748791 134748791 C G het . 4 +intergenic INTS6L(dist=32942),SAGE2P(dist=62979) chrX 134749402 134749402 C A het . 5 +intergenic INTS6L(dist=43707),SAGE2P(dist=52214) chrX 134760167 134760167 C T het . 2 +exonic CT45A10 chrX 134948034 134948034 A G het . 37 +exonic SAGE1 chrX 134978425 134978425 G A het . 24 +exonic SAGE1 chrX 134986700 134986700 T C het . 12 +exonic SAGE1 chrX 134991078 134991078 A G het . 19 +exonic SAGE1 chrX 134994005 134994005 T C het . 35 +exonic SAGE1 chrX 134994054 134994054 G A het . 26 +intronic SAGE1 chrX 134994184 134994184 A C het . 7 +intergenic SAGE1(dist=29886),MMGT1(dist=17641) chrX 135025106 135025106 T C het . 9 +intergenic SAGE1(dist=31881),MMGT1(dist=15646) chrX 135027101 135027101 T C het . 15 +intergenic SAGE1(dist=35699),MMGT1(dist=11828) chrX 135030919 135030919 C T het . 2 +intronic MMGT1 chrX 135053063 135053063 G C het . 14 +intronic MMGT1 chrX 135055694 135055694 T C het . 2 +upstream MMGT1(dist=751) chrX 135056973 135056973 T G het . 4 +intronic SLC9A6 chrX 135080623 135080623 - T het . 13 +intronic SLC9A6 chrX 135095665 135095665 A - het . 12 +intronic SLC9A6 chrX 135115670 135115670 A - het . 24 +intergenic SLC9A6(dist=27484),FHL1(dist=72647) chrX 135156912 135156912 T C het . 5 +intergenic SLC9A6(dist=40166),FHL1(dist=59965) chrX 135169594 135169594 C T het . 2 +intergenic SLC9A6(dist=69408),FHL1(dist=30723) chrX 135198836 135198836 G A het . 2 +upstream FHL1(dist=415) chrX 135229144 135229144 G C het . 12 +intronic FHL1 chrX 135238114 135238114 A G het . 2 +intronic FHL1 chrX 135249614 135249614 G A het . 2 +intronic FHL1 chrX 135252235 135252235 C - het . 6 +intronic FHL1 chrX 135257385 135257385 C T het . 2 +intronic FHL1 chrX 135260510 135260510 T C het . 2 +intronic FHL1 chrX 135262961 135262961 - GT het . 2 +intronic FHL1 chrX 135266089 135266089 A G het . 2 +intronic FHL1 chrX 135292022 135292022 C T het . 20 +UTR3 FHL1(NM_001159702:c.*969G>A,NM_001449:c.*898G>A,NM_001159703:c.*969G>A,NM_001159700:c.*898G>A,NM_001159704:c.*898G>A,NM_001167819:c.*898G>A,NM_001159701:c.*898G>A,NM_001159699:c.*898G>A,NM_001330659:c.*969G>A) chrX 135293082 135293082 G A het . 26 +intronic MAP7D3 chrX 135307049 135307049 G A het . 18 +exonic MAP7D3 chrX 135310785 135310785 T C het . 16 +exonic MAP7D3 chrX 135313034 135313034 T G het . 12 +intronic MAP7D3 chrX 135322440 135322440 A T het . 12 +exonic MAP7D3 chrX 135323343 135323343 T C het . 24 +intronic MAP7D3 chrX 135323452 135323452 G A het . 11 +intergenic MAP7D3(dist=30557),ADGRG4(dist=13924) chrX 135369198 135369198 G A het . 2 +intergenic MAP7D3(dist=39301),ADGRG4(dist=5180) chrX 135377942 135377942 C T het . 18 +exonic ADGRG4 chrX 135426693 135426693 A G het . 23 +exonic ADGRG4 chrX 135426968 135426968 C A het . 19 +exonic ADGRG4 chrX 135429503 135429503 C A het . 13 +exonic ADGRG4 chrX 135429730 135429730 C T het . 13 +exonic ADGRG4 chrX 135430044 135430044 T C het . 22 +exonic ADGRG4 chrX 135430227 135430227 C T het . 24 +exonic ADGRG4 chrX 135430483 135430483 T C het . 15 +exonic ADGRG4 chrX 135430517 135430517 C T het . 12 +exonic ADGRG4 chrX 135431236 135431236 T C het . 12 +exonic ADGRG4 chrX 135431358 135431358 C T het . 12 +intronic ADGRG4 chrX 135435476 135435476 T - het . 20 +intronic ADGRG4 chrX 135438388 135438388 A G het . 6 +exonic ADGRG4 chrX 135474420 135474420 C A het . 16 +exonic ADGRG4 chrX 135474445 135474447 GAT - het . 17 +intronic ADGRG4 chrX 135477220 135477220 G A het . 2 +exonic ADGRG4 chrX 135480126 135480126 T C het . 22 +exonic ADGRG4 chrX 135496398 135496398 G A het . 20 +intergenic ADGRG4(dist=19109),BRS3(dist=51969) chrX 135518156 135518156 A G het . 2 +intergenic ADGRG4(dist=60703),BRS3(dist=10375) chrX 135559750 135559750 A - het . 2 +exonic BRS3 chrX 135572468 135572468 C A het . 25 +intergenic VGLL1(dist=35702),LINC00892(dist=47033) chrX 135674668 135674669 TT - het . 2 +intergenic VGLL1(dist=35875),LINC00892(dist=46861) chrX 135674841 135674841 T C het . 5 +intronic ARHGEF6 chrX 135761646 135761646 C A het . 19 +intronic ARHGEF6 chrX 135811395 135811395 A G het . 2 +intronic ARHGEF6 chrX 135837778 135837778 C T het . 3 +intergenic ARHGEF6(dist=10626),RBMX(dist=77224) chrX 135874129 135874129 A G het . 2 +intergenic ARHGEF6(dist=41234),RBMX(dist=46616) chrX 135904737 135904737 G A het . 2 +intergenic ARHGEF6(dist=59926),RBMX(dist=27924) chrX 135923429 135923429 T - het . 3 +intergenic ARHGEF6(dist=66247),RBMX(dist=21603) chrX 135929750 135929750 G A het . 2 +exonic RBMX chrX 135961586 135961587 TG - het . 10 +UTR5 RBMX(NM_001164803:c.-1C>A,NM_002139:c.-1C>A) chrX 135961587 135961587 G T het . 10 +intergenic RBMX(dist=37711),GPR101(dist=111657) chrX 136000650 136000650 G A het . 2 +intergenic RBMX(dist=103722),GPR101(dist=45646) chrX 136066661 136066661 G A het . 26 +exonic GPR101 chrX 136113464 136113464 C A het . 4 +intergenic GPR101(dist=26707),ZIC3(dist=507746) chrX 136140540 136140540 G T het . 3 +intergenic GPR101(dist=82255),ZIC3(dist=452198) chrX 136196088 136196088 G C het . 3 +intergenic GPR101(dist=105285),ZIC3(dist=429168) chrX 136219118 136219118 A T het . 2 +intergenic GPR101(dist=105295),ZIC3(dist=429158) chrX 136219128 136219128 C G het . 2 +intergenic GPR101(dist=132503),ZIC3(dist=401950) chrX 136246336 136246336 A C het . 2 +intergenic GPR101(dist=151345),ZIC3(dist=383108) chrX 136265178 136265178 G A het . 2 +intergenic GPR101(dist=152875),ZIC3(dist=381578) chrX 136266708 136266708 C A het . 2 +intergenic GPR101(dist=161108),ZIC3(dist=373345) chrX 136274941 136274941 A G het . 2 +intergenic GPR101(dist=238608),ZIC3(dist=295845) chrX 136352441 136352441 A G het . 2 +intergenic GPR101(dist=245698),ZIC3(dist=288755) chrX 136359531 136359531 C G het . 2 +intergenic GPR101(dist=262336),ZIC3(dist=272117) chrX 136376169 136376169 - A het . 2 +intergenic GPR101(dist=399911),ZIC3(dist=134542) chrX 136513744 136513744 G A het . 3 +intergenic GPR101(dist=421186),ZIC3(dist=113267) chrX 136535019 136535019 A T het . 2 +intergenic GPR101(dist=458443),ZIC3(dist=76010) chrX 136572276 136572276 C G het . 2 +intergenic GPR101(dist=481015),ZIC3(dist=53438) chrX 136594848 136594848 G A het . 2 +intergenic GPR101(dist=489480),ZIC3(dist=44973) chrX 136603313 136603313 C T het . 2 +intergenic GPR101(dist=495013),ZIC3(dist=39440) chrX 136608846 136608846 G A het . 2 +intergenic GPR101(dist=506228),ZIC3(dist=28225) chrX 136620061 136620061 T G het . 1 +intergenic GPR101(dist=523418),ZIC3(dist=11035) chrX 136637251 136637251 A G het . 2 +intronic ZIC3 chrX 136650934 136650934 A T het . 7 +intergenic ZIC3(dist=43935),LINC00889(dist=993107) chrX 136703785 136703785 T C het . 3 +intergenic ZIC3(dist=55034),LINC00889(dist=982008) chrX 136714884 136714884 - TC het . 3 +intergenic ZIC3(dist=82952),LINC00889(dist=954090) chrX 136742802 136742802 T C het . 16 +intergenic ZIC3(dist=83999),LINC00889(dist=953043) chrX 136743849 136743849 A G het . 6 +intergenic ZIC3(dist=161907),LINC00889(dist=875135) chrX 136821757 136821757 C T het . 4 +intergenic ZIC3(dist=246781),LINC00889(dist=790261) chrX 136906631 136906631 G A het . 3 +intergenic ZIC3(dist=330611),LINC00889(dist=706431) chrX 136990461 136990461 A G het . 2 +intergenic ZIC3(dist=376547),LINC00889(dist=660495) chrX 137036397 137036397 T C het . 2 +intergenic ZIC3(dist=382459),LINC00889(dist=654583) chrX 137042309 137042309 G A het . 2 +intergenic ZIC3(dist=465924),LINC00889(dist=571118) chrX 137125774 137125774 A G het . 2 +intergenic ZIC3(dist=480131),LINC00889(dist=556911) chrX 137139981 137139981 A - het . 2 +intergenic ZIC3(dist=541122),LINC00889(dist=495920) chrX 137200972 137200972 C T het . 2 +intergenic ZIC3(dist=581235),LINC00889(dist=455807) chrX 137241085 137241085 G A het . 2 +intergenic ZIC3(dist=586482),LINC00889(dist=450560) chrX 137246332 137246332 T A het . 2 +intergenic ZIC3(dist=611267),LINC00889(dist=425775) chrX 137271117 137271117 G C het . 1 +intergenic ZIC3(dist=612842),LINC00889(dist=424200) chrX 137272692 137272692 T C het . 2 +intergenic ZIC3(dist=623674),LINC00889(dist=413368) chrX 137283524 137283524 G C het . 2 +intergenic ZIC3(dist=670712),LINC00889(dist=366330) chrX 137330562 137330562 A T het . 2 +intergenic ZIC3(dist=675424),LINC00889(dist=361618) chrX 137335274 137335274 C T het . 3 +intergenic ZIC3(dist=808800),LINC00889(dist=228242) chrX 137468650 137468650 G C het . 2 +intergenic ZIC3(dist=987895),LINC00889(dist=49147) chrX 137647745 137647745 A C het . 2 +intergenic ZIC3(dist=991864),LINC00889(dist=45178) chrX 137651714 137651714 G T het . 2 +intergenic ZIC3(dist=1005682),LINC00889(dist=31360) chrX 137665532 137665532 G T het . 3 +intronic FGF13 chrX 137749997 137749997 A T het . 3 +intronic FGF13 chrX 138049432 138049432 A T het . 2 +intronic FGF13 chrX 138056412 138056412 A G het . 2 +intronic FGF13 chrX 138067202 138067202 A G het . 20 +intronic FGF13 chrX 138067368 138067368 G A het . 2 +intergenic FGF13(dist=116554),SRD5A1P1(dist=125239) chrX 138403739 138403739 C T het . 1 +intergenic FGF13(dist=116561),SRD5A1P1(dist=125232) chrX 138403746 138403746 G A het . 2 +intergenic FGF13(dist=125548),SRD5A1P1(dist=116245) chrX 138412733 138412733 G T het . 4 +intergenic FGF13(dist=130058),SRD5A1P1(dist=111735) chrX 138417243 138417243 A G het . 1 +intergenic FGF13(dist=219980),SRD5A1P1(dist=21813) chrX 138507165 138507165 T G het . 2 +exonic F9 chrX 138633280 138633280 A G het . 22 +intronic MCF2 chrX 138667069 138667069 C A het . 3 +intronic MCF2 chrX 138696949 138696949 C T het . 3 +intronic MCF2 chrX 138698653 138698653 A - het . 9 +UTR5 MCF2(NM_001171878:c.-48C>T,NM_001171877:c.-48C>T,NM_001171879:c.-48C>T,NM_005369:c.-48C>T) chrX 138724725 138724725 G A het . 16 +intronic MCF2 chrX 138733104 138733104 T A het . 5 +intronic MCF2 chrX 138733254 138733254 C T het . 5 +intronic MCF2 chrX 138774209 138774209 C T het . 19 +intronic MCF2 chrX 138780160 138780160 G A het . 2 +intergenic MCF2(dist=13801),ATP11C(dist=4323) chrX 138804182 138804182 C T het . 2 +UTR3 ATP11C(NM_001353810:c.*56C>T,NM_001353811:c.*120C>T,NM_001353812:c.*122C>T,NM_173694:c.*122C>T,NM_001010986:c.*56C>T) chrX 138811003 138811003 G A het . 12 +intronic ATP11C chrX 138825675 138825675 T C het . 11 +exonic ATP11C chrX 138897130 138897130 A C het . 20 +intronic ATP11C chrX 139002534 139002539 TACTGA - het . 1 +intronic ATP11C chrX 139013712 139013712 T C het . 2 +intergenic CXorf66(dist=13328),LOC728660(dist=38422) chrX 139061005 139061005 G A het . 2 +intergenic CXorf66(dist=21265),LOC728660(dist=30485) chrX 139068942 139068942 - G het . 2 +intergenic LOC728660(dist=14943),LOC389895(dist=58687) chrX 139115139 139115139 T C het . 18 +intergenic LOC728660(dist=15475),LOC389895(dist=58155) chrX 139115671 139115671 G A het . 7 +intergenic LOC728660(dist=32760),LOC389895(dist=40870) chrX 139132956 139132956 G C het . 2 +intergenic LOC389895(dist=300517),SOX3(dist=109565) chrX 139475587 139475587 G A het . 2 +intergenic LOC389895(dist=304732),SOX3(dist=105350) chrX 139479802 139479802 C T het . 3 +intergenic LOC389895(dist=389664),SOX3(dist=20418) chrX 139564734 139564734 T C het . 2 +upstream SOX3(dist=17) chrX 139587242 139587242 C T het . 23 +intergenic SOX3(dist=9728),LINC00632(dist=194971) chrX 139596953 139596953 C T het . 4 +intergenic SOX3(dist=10081),LINC00632(dist=194614) chrX 139597306 139597310 ATTTA - het . 2 +intergenic SOX3(dist=11629),LINC00632(dist=193070) chrX 139598854 139598854 C G het . 2 +intergenic SOX3(dist=14756),LINC00632(dist=189940) chrX 139601981 139601984 TTTG - het . 4 +intergenic SOX3(dist=14788),LINC00632(dist=189911) chrX 139602013 139602013 T A het . 3 +intergenic SOX3(dist=23851),LINC00632(dist=180848) chrX 139611076 139611076 A C het . 2 +intergenic SOX3(dist=29037),LINC00632(dist=175662) chrX 139616262 139616262 A G het . 2 +intergenic SOX3(dist=141041),LINC00632(dist=63658) chrX 139728266 139728266 G T het . 2 +intergenic SOX3(dist=141058),LINC00632(dist=63641) chrX 139728283 139728283 C T het . 2 +ncRNA_intronic LINC00632 chrX 139835703 139835703 G T het . 2 +intergenic CDR1(dist=18422),MIR320D2(dist=123192) chrX 139885145 139885145 A - het . 2 +intergenic CDR1(dist=25769),MIR320D2(dist=115845) chrX 139892492 139892492 T A het . 2 +intergenic CDR1(dist=73734),MIR320D2(dist=67880) chrX 139940457 139940457 T C het . 2 +intergenic CDR1(dist=108872),MIR320D2(dist=32742) chrX 139975595 139975595 G T het . 23 +upstream MIR320D2(dist=1) chrX 140008385 140008385 G T het . 18 +intergenic MIR320D2(dist=5830),SPANXB1(dist=70542) chrX 140014214 140014214 G A het . 2 +intergenic MIR320D2(dist=36369),SPANXB1(dist=40003) chrX 140044753 140044753 G T het . 2 +intergenic MIR320D2(dist=48144),SPANXB1(dist=28228) chrX 140056528 140056528 A C het . 2 +intergenic MIR320D2(dist=71746),SPANXB1(dist=4626) chrX 140080130 140080130 - T het . 2 +intergenic RNU6-2(dist=19921),LDOC1(dist=37689) chrX 140232242 140232242 G A het . 2 +intergenic RNU6-2(dist=20492),LDOC1(dist=37118) chrX 140232813 140232813 G A het . 5 +intergenic LDOC1(dist=86879),SPANXA2-OT1(dist=232565) chrX 140358278 140358278 T A het . 11 +intergenic LDOC1(dist=198933),SPANXA2-OT1(dist=120511) chrX 140470332 140470332 A C het . 2 +intergenic LDOC1(dist=204909),SPANXA2-OT1(dist=114535) chrX 140476308 140476308 G A het . 2 +intergenic LDOC1(dist=238435),SPANXA2-OT1(dist=81009) chrX 140509834 140509834 - AAC het . 2 +intergenic LDOC1(dist=278990),SPANXA2-OT1(dist=40454) chrX 140550389 140550389 T G het . 2 +exonic SPANXC,SPANXD chrX 140785672 140785672 T G het . 11 +intronic SPANXC,SPANXD chrX 140785855 140785855 A G het . 16 +intergenic SPANXD(dist=58403),MAGEC3(dist=80803) chrX 140845299 140845299 A G het . 2 +intergenic SPANXD(dist=65567),MAGEC3(dist=73639) chrX 140852463 140852463 G A het . 2 +intergenic SPANXD(dist=70885),MAGEC3(dist=68321) chrX 140857781 140857781 C T het . 2 +intergenic SPANXD(dist=89886),MAGEC3(dist=49320) chrX 140876782 140876782 A C het . 2 +intronic MAGEC3 chrX 140983031 140983031 A G het . 4 +exonic MAGEC3 chrX 140983064 140983064 G A het . 5 +exonic MAGEC3 chrX 140983103 140983103 C T het . 7 +exonic MAGEC3 chrX 140983127 140983127 G A het . 5 +exonic MAGEC1 chrX 140993264 140993264 G A het . 9 +exonic MAGEC1 chrX 140993642 140993642 C T het . 32 +exonic MAGEC1 chrX 140994037 140994037 C A het . 3 +exonic MAGEC1 chrX 140994171 140994171 C G het . 5 +exonic MAGEC1 chrX 140994517 140994517 C G het . 43 +exonic MAGEC1 chrX 140995315 140995315 C T het . 17 +exonic MAGEC1 chrX 140996364 140996364 G A het . 10 +intergenic MAGEC1(dist=15380),MAGEC2(dist=277561) chrX 141012567 141012567 A G het . 3 +intergenic MAGEC1(dist=15389),MAGEC2(dist=277552) chrX 141012576 141012576 C A het . 3 +intergenic MAGEC1(dist=92400),MAGEC2(dist=200541) chrX 141089587 141089587 G A het . 2 +intergenic MAGEC1(dist=104556),MAGEC2(dist=188385) chrX 141101743 141101743 A G het . 2 +intergenic MAGEC1(dist=210384),MAGEC2(dist=82557) chrX 141207571 141207571 T A het . 2 +intergenic MAGEC1(dist=229676),MAGEC2(dist=63265) chrX 141226863 141226863 C T het . 2 +intergenic MAGEC1(dist=263723),MAGEC2(dist=29218) chrX 141260910 141260910 C T het . 8 +intergenic MAGEC1(dist=272283),MAGEC2(dist=20658) chrX 141269470 141269470 G T het . 2 +exonic MAGEC2 chrX 141290865 141290865 C T het . 27 +intergenic MAGEC2(dist=19896),SPANXN4(dist=800732) chrX 141312972 141312972 G A het . 4 +intergenic MAGEC2(dist=59815),SPANXN4(dist=760813) chrX 141352891 141352891 A C het . 2 +intergenic MAGEC2(dist=115207),SPANXN4(dist=705421) chrX 141408283 141408283 G T het . 2 +intergenic MAGEC2(dist=235964),SPANXN4(dist=584664) chrX 141529040 141529040 A C het . 2 +intergenic MAGEC2(dist=235972),SPANXN4(dist=584656) chrX 141529048 141529048 G T het . 2 +intergenic MAGEC2(dist=235996),SPANXN4(dist=584632) chrX 141529072 141529072 A G het . 3 +intergenic MAGEC2(dist=236242),SPANXN4(dist=584379) chrX 141529318 141529325 TCTTTCTT - het . 9 +intergenic MAGEC2(dist=465798),SPANXN4(dist=354830) chrX 141758874 141758874 A G het . 2 +intergenic MAGEC2(dist=502522),SPANXN4(dist=318106) chrX 141795598 141795598 G A het . 2 +intergenic MAGEC2(dist=513162),SPANXN4(dist=307466) chrX 141806238 141806238 T G het . 2 +intergenic MAGEC2(dist=515274),SPANXN4(dist=305354) chrX 141808350 141808350 T G het . 2 +intergenic MAGEC2(dist=554617),SPANXN4(dist=266011) chrX 141847693 141847693 C A het . 2 +intergenic MAGEC2(dist=557503),SPANXN4(dist=263125) chrX 141850579 141850579 A G het . 2 +intergenic MAGEC2(dist=565676),SPANXN4(dist=254952) chrX 141858752 141858752 T A het . 2 +intergenic MAGEC2(dist=568870),SPANXN4(dist=251758) chrX 141861946 141861946 T G het . 1 +intronic SPANXN4 chrX 142116482 142116482 G T het . 2 +intronic SPANXN4 chrX 142118612 142118612 G A het . 2 +intronic SPANXN4 chrX 142120011 142120011 - T het . 2 +UTR3 SPANXN4(NM_001009613:c.*26T>G) chrX 142122058 142122058 T G het . 7 +intergenic SPANXN4(dist=31269),SPANXN3(dist=443229) chrX 142153335 142153335 T A het . 3 +intergenic SPANXN4(dist=46124),SPANXN3(dist=428374) chrX 142168190 142168190 T C het . 2 +intergenic SPANXN4(dist=208638),SPANXN3(dist=265860) chrX 142330704 142330704 A G het . 2 +intergenic SPANXN4(dist=213833),SPANXN3(dist=260665) chrX 142335899 142335899 T G het . 2 +intergenic SPANXN4(dist=315686),SPANXN3(dist=158812) chrX 142437752 142437752 G A het . 2 +intergenic SPANXN3(dist=60956),SLITRK4(dist=44336) chrX 142666259 142666259 C T het . 2 +intergenic SPANXN3(dist=73632),SLITRK4(dist=31660) chrX 142678935 142678935 G A het . 3 +intergenic SPANXN2(dist=46950),UBE2NL(dist=116461) chrX 142850712 142850712 C G het . 2 +intergenic SPANXN2(dist=54328),UBE2NL(dist=109083) chrX 142858090 142858090 A G het . 2 +intergenic SPANXN2(dist=59733),UBE2NL(dist=103678) chrX 142863495 142863495 G A het . 2 +intergenic SPANXN2(dist=59782),UBE2NL(dist=103629) chrX 142863544 142863544 C A het . 2 +intergenic SPANXN2(dist=61569),UBE2NL(dist=101842) chrX 142865331 142865331 A G het . 2 +intergenic SPANXN2(dist=62138),UBE2NL(dist=101273) chrX 142865900 142865900 A C het . 2 +intergenic SPANXN2(dist=65511),UBE2NL(dist=97900) chrX 142869273 142869273 A G het . 3 +intergenic SPANXN2(dist=70808),UBE2NL(dist=92603) chrX 142874570 142874570 A G het . 2 +intergenic SPANXN2(dist=78889),UBE2NL(dist=84521) chrX 142882651 142882652 TT - het . 2 +intergenic SPANXN2(dist=101204),UBE2NL(dist=62207) chrX 142904966 142904966 A T het . 1 +UTR5 UBE2NL(NM_001012989:c.-15C>T) chrX 142967188 142967188 C T het . 9 +exonic UBE2NL chrX 142967468 142967468 T G het . 20 +intergenic UBE2NL(dist=4293),SPANXN1(dist=1356457) chrX 142972650 142972650 C T het . 2 +intergenic UBE2NL(dist=75086),SPANXN1(dist=1285664) chrX 143043443 143043443 T C het . 2 +intergenic UBE2NL(dist=80115),SPANXN1(dist=1280635) chrX 143048472 143048472 A G het . 2 +intergenic UBE2NL(dist=110838),SPANXN1(dist=1249912) chrX 143079195 143079195 G A het . 3 +intergenic UBE2NL(dist=117525),SPANXN1(dist=1243225) chrX 143085882 143085882 A G het . 3 +intergenic UBE2NL(dist=132789),SPANXN1(dist=1227961) chrX 143101146 143101146 A C het . 1 +intergenic UBE2NL(dist=177613),SPANXN1(dist=1183137) chrX 143145970 143145970 T C het . 2 +intergenic UBE2NL(dist=182115),SPANXN1(dist=1178635) chrX 143150472 143150472 G A het . 2 +intergenic UBE2NL(dist=336528),SPANXN1(dist=1024222) chrX 143304885 143304885 G A het . 2 +intergenic UBE2NL(dist=375716),SPANXN1(dist=985034) chrX 143344073 143344073 T C het . 13 +intergenic UBE2NL(dist=375807),SPANXN1(dist=984943) chrX 143344164 143344164 G A het . 7 +intergenic UBE2NL(dist=375822),SPANXN1(dist=984928) chrX 143344179 143344179 A G het . 8 +intergenic UBE2NL(dist=381338),SPANXN1(dist=979412) chrX 143349695 143349695 A C het . 2 +intergenic UBE2NL(dist=387423),SPANXN1(dist=973327) chrX 143355780 143355780 T C het . 2 +intergenic UBE2NL(dist=394762),SPANXN1(dist=965988) chrX 143363119 143363119 A G het . 2 +intergenic UBE2NL(dist=395617),SPANXN1(dist=965133) chrX 143363974 143363974 A T het . 3 +intergenic UBE2NL(dist=424204),SPANXN1(dist=936545) chrX 143392561 143392562 AG - het . 9 +intergenic UBE2NL(dist=437689),SPANXN1(dist=923061) chrX 143406046 143406046 G T het . 2 +intergenic UBE2NL(dist=669950),SPANXN1(dist=690800) chrX 143638307 143638307 G A het . 2 +intergenic UBE2NL(dist=705304),SPANXN1(dist=655446) chrX 143673661 143673661 G T het . 3 +intergenic UBE2NL(dist=773713),SPANXN1(dist=587037) chrX 143742070 143742070 C T het . 2 +intergenic UBE2NL(dist=885371),SPANXN1(dist=475379) chrX 143853728 143853728 T C het . 2 +intergenic UBE2NL(dist=980947),SPANXN1(dist=379803) chrX 143949304 143949304 A C het . 2 +intergenic UBE2NL(dist=985181),SPANXN1(dist=375569) chrX 143953538 143953538 G A het . 2 +intergenic UBE2NL(dist=997252),SPANXN1(dist=363498) chrX 143965609 143965609 G A het . 3 +intergenic UBE2NL(dist=1144433),SPANXN1(dist=216317) chrX 144112790 144112790 G C het . 2 +intergenic UBE2NL(dist=1242633),SPANXN1(dist=118117) chrX 144210990 144210990 C T het . 2 +intergenic UBE2NL(dist=1262582),SPANXN1(dist=98168) chrX 144230939 144230939 G A het . 1 +intergenic UBE2NL(dist=1282025),SPANXN1(dist=78725) chrX 144250382 144250382 G T het . 2 +intergenic UBE2NL(dist=1282029),SPANXN1(dist=78721) chrX 144250386 144250386 A G het . 2 +intergenic UBE2NL(dist=1282035),SPANXN1(dist=78715) chrX 144250392 144250392 C T het . 2 +intergenic UBE2NL(dist=1282664),SPANXN1(dist=78086) chrX 144251021 144251021 G A het . 2 +intergenic UBE2NL(dist=1293762),SPANXN1(dist=66988) chrX 144262119 144262119 G A het . 5 +intergenic UBE2NL(dist=1331261),SPANXN1(dist=29489) chrX 144299618 144299618 A G het . 2 +intronic SPANXN1 chrX 144337081 144337081 C A het . 3 +intergenic SPANXN1(dist=12395),SLITRK2(dist=549224) chrX 144350123 144350123 C T het . 2 +intergenic SPANXN1(dist=94328),SLITRK2(dist=467291) chrX 144432056 144432056 A T het . 2 +intergenic SPANXN1(dist=98391),SLITRK2(dist=463228) chrX 144436119 144436119 T C het . 2 +intergenic SPANXN1(dist=115146),SLITRK2(dist=446473) chrX 144452874 144452874 G C het . 2 +intergenic SPANXN1(dist=163586),SLITRK2(dist=398033) chrX 144501314 144501314 A C het . 2 +intergenic SPANXN1(dist=212941),SLITRK2(dist=348678) chrX 144550669 144550669 T G het . 2 +intergenic SPANXN1(dist=212955),SLITRK2(dist=348662) chrX 144550683 144550685 TTT - het . 2 +intergenic SPANXN1(dist=289666),SLITRK2(dist=271953) chrX 144627394 144627394 C T het . 3 +intergenic SPANXN1(dist=314935),SLITRK2(dist=246684) chrX 144652663 144652663 G C het . 3 +intergenic SPANXN1(dist=318287),SLITRK2(dist=243332) chrX 144656015 144656015 T G het . 3 +intergenic SPANXN1(dist=318377),SLITRK2(dist=243242) chrX 144656105 144656105 A C het . 3 +intergenic SPANXN1(dist=326143),SLITRK2(dist=235476) chrX 144663871 144663871 A C het . 2 +intergenic SPANXN1(dist=330472),SLITRK2(dist=231147) chrX 144668200 144668200 T C het . 2 +intergenic SPANXN1(dist=331225),SLITRK2(dist=230394) chrX 144668953 144668953 G A het . 4 +intergenic SPANXN1(dist=336073),SLITRK2(dist=225546) chrX 144673801 144673801 C T het . 2 +intergenic SPANXN1(dist=339393),SLITRK2(dist=222225) chrX 144677121 144677122 AA - het . 2 +intergenic SPANXN1(dist=374498),SLITRK2(dist=187121) chrX 144712226 144712226 G A het . 8 +intergenic SPANXN1(dist=402187),SLITRK2(dist=159432) chrX 144739915 144739915 C T het . 2 +intergenic SPANXN1(dist=486334),SLITRK2(dist=75285) chrX 144824062 144824062 C A het . 2 +intergenic SPANXN1(dist=532482),SLITRK2(dist=29137) chrX 144870210 144870210 C A het . 2 +exonic SLITRK2 chrX 144904252 144904252 G A het . 21 +exonic SLITRK2 chrX 144904882 144904882 T C het . 24 +intergenic SLITRK2(dist=3576),MIR892C(dist=163332) chrX 144910936 144910936 C T het . 2 +intergenic SLITRK2(dist=15171),MIR892C(dist=151737) chrX 144922531 144922531 G A het . 2 +intergenic SLITRK2(dist=70012),MIR892C(dist=96896) chrX 144977372 144977372 A C het . 2 +ncRNA_exonic MIR888 chrX 145076302 145076302 T G het . 9 +intergenic MIR891B(dist=21355),MIR891A(dist=5308) chrX 145104004 145104004 C G het . 5 +intergenic MIR891A(dist=23500),CXorf51B(dist=758412) chrX 145132890 145132890 C G het . 3 +intergenic MIR891A(dist=72064),CXorf51B(dist=709848) chrX 145181454 145181454 A G het . 3 +intergenic MIR891A(dist=104481),CXorf51B(dist=677431) chrX 145213871 145213871 - TCCCA het . 2 +intergenic MIR891A(dist=230712),CXorf51B(dist=551200) chrX 145340102 145340102 T C het . 2 +intergenic MIR891A(dist=253933),CXorf51B(dist=527979) chrX 145363323 145363323 G C het . 2 +intergenic MIR891A(dist=266631),CXorf51B(dist=515281) chrX 145376021 145376021 - T het . 4 +intergenic MIR891A(dist=289005),CXorf51B(dist=492907) chrX 145398395 145398395 G A het . 2 +intergenic MIR891A(dist=291016),CXorf51B(dist=490896) chrX 145400406 145400406 A G het . 2 +intergenic MIR891A(dist=293005),CXorf51B(dist=488907) chrX 145402395 145402395 A G het . 2 +intergenic MIR891A(dist=304304),CXorf51B(dist=477608) chrX 145413694 145413694 C T het . 2 +intergenic MIR891A(dist=325101),CXorf51B(dist=456811) chrX 145434491 145434491 A G het . 2 +intergenic MIR891A(dist=325856),CXorf51B(dist=456056) chrX 145435246 145435246 T C het . 2 +intergenic MIR891A(dist=450748),CXorf51B(dist=331164) chrX 145560138 145560138 - T het . 2 +intergenic MIR891A(dist=450752),CXorf51B(dist=331160) chrX 145560142 145560142 C T het . 2 +intergenic MIR891A(dist=451496),CXorf51B(dist=330416) chrX 145560886 145560886 C T het . 2 +intergenic MIR891A(dist=454503),CXorf51B(dist=327409) chrX 145563893 145563893 C G het . 2 +intergenic MIR891A(dist=485801),CXorf51B(dist=296111) chrX 145595191 145595191 C A het . 2 +intergenic MIR891A(dist=488217),CXorf51B(dist=293695) chrX 145597607 145597607 G A het . 3 +intergenic MIR891A(dist=490997),CXorf51B(dist=290915) chrX 145600387 145600387 C T het . 2 +intergenic MIR891A(dist=492179),CXorf51B(dist=289733) chrX 145601569 145601569 A - het . 2 +intergenic MIR891A(dist=507079),CXorf51B(dist=274833) chrX 145616469 145616469 A G het . 2 +intergenic MIR891A(dist=511120),CXorf51B(dist=270792) chrX 145620510 145620510 A G het . 2 +intergenic MIR891A(dist=513557),CXorf51B(dist=268355) chrX 145622947 145622947 C A het . 1 +intergenic MIR891A(dist=569187),CXorf51B(dist=212725) chrX 145678577 145678577 C A het . 2 +intergenic MIR891A(dist=580711),CXorf51B(dist=201201) chrX 145690101 145690101 A G het . 3 +intergenic MIR891A(dist=582636),CXorf51B(dist=199276) chrX 145692026 145692026 G A het . 2 +intergenic MIR891A(dist=703064),CXorf51B(dist=78848) chrX 145812454 145812454 T C het . 2 +intergenic MIR891A(dist=717323),CXorf51B(dist=64589) chrX 145826713 145826713 T - het . 3 +intergenic CXorf51B(dist=35166),MIR513C(dist=339807) chrX 145931415 145931415 T A het . 2 +intergenic CXorf51B(dist=35171),MIR513C(dist=339802) chrX 145931420 145931420 G T het . 2 +intergenic CXorf51B(dist=82915),MIR513C(dist=292058) chrX 145979164 145979164 T G het . 3 +intergenic CXorf51B(dist=96812),MIR513C(dist=278161) chrX 145993061 145993061 T C het . 2 +intergenic CXorf51B(dist=99214),MIR513C(dist=275759) chrX 145995463 145995463 G C het . 2 +intergenic CXorf51B(dist=110762),MIR513C(dist=264208) chrX 146007011 146007014 TAGT - het . 2 +intergenic CXorf51B(dist=121089),MIR513C(dist=253884) chrX 146017338 146017338 T C het . 2 +intergenic CXorf51B(dist=125244),MIR513C(dist=249729) chrX 146021493 146021493 G A het . 3 +intergenic CXorf51B(dist=143122),MIR513C(dist=231851) chrX 146039371 146039371 G C het . 2 +intergenic CXorf51B(dist=181274),MIR513C(dist=193699) chrX 146077523 146077523 C A het . 2 +intergenic CXorf51B(dist=209996),MIR513C(dist=164977) chrX 146106245 146106245 C T het . 2 +intergenic CXorf51B(dist=216610),MIR513C(dist=158363) chrX 146112859 146112859 G A het . 2 +intergenic CXorf51B(dist=238376),MIR513C(dist=136597) chrX 146134625 146134625 A G het . 2 +intergenic CXorf51B(dist=251016),MIR513C(dist=123957) chrX 146147265 146147265 T C het . 2 +downstream MIR513C(dist=312) chrX 146270910 146270910 C A het . 2 +downstream MIR513C(dist=259) chrX 146270963 146270963 C T het . 2 +upstream MIR513C(dist=135) chrX 146271440 146271440 A G het . 2 +intergenic MIR513C(dist=3859),MIR513B(dist=5398) chrX 146275164 146275164 G A het . 3 +intergenic MIR513C(dist=3864),MIR513B(dist=5393) chrX 146275169 146275169 G A het . 3 +downstream MIR513A1(dist=526) chrX 146294455 146294455 C A het . 2 +upstream;downstream MIR506(dist=1);MIR507(dist=140) chrX 146312362 146312362 A G het . 4 +upstream MIR506,MIR507(dist=8) chrX 146312603 146312603 - AT het . 2 +upstream MIR506,MIR507(dist=211) chrX 146312806 146312806 C G het . 2 +intergenic MIR507(dist=1461),MIR508(dist=4375) chrX 146314056 146314056 A C het . 2 +intergenic MIR507(dist=3887),MIR508(dist=1949) chrX 146316482 146316482 A C het . 2 +upstream MIR510(dist=99) chrX 146354025 146354026 GT AC het . 3 +intergenic MIR514A3(dist=14275),FMR1-AS1(dist=610428) chrX 146380521 146380521 T C het . 2 +intergenic MIR514A3(dist=41926),FMR1-AS1(dist=582777) chrX 146408172 146408172 A G het . 2 +intergenic MIR514A3(dist=48679),FMR1-AS1(dist=576024) chrX 146414925 146414925 G A het . 2 +intergenic MIR514A3(dist=64812),FMR1-AS1(dist=559891) chrX 146431058 146431058 G A het . 2 +intergenic MIR514A3(dist=65142),FMR1-AS1(dist=559561) chrX 146431388 146431388 C T het . 4 +intergenic MIR514A3(dist=67024),FMR1-AS1(dist=557679) chrX 146433270 146433270 C T het . 2 +intergenic MIR514A3(dist=187984),FMR1-AS1(dist=436719) chrX 146554230 146554230 C G het . 2 +intergenic MIR514A3(dist=191693),FMR1-AS1(dist=433010) chrX 146557939 146557939 T C het . 2 +intergenic MIR514A3(dist=306767),FMR1-AS1(dist=317936) chrX 146673013 146673013 C T het . 2 +intergenic MIR514A3(dist=313883),FMR1-AS1(dist=310820) chrX 146680129 146680129 C T het . 2 +intergenic MIR514A3(dist=321851),FMR1-AS1(dist=302852) chrX 146688097 146688097 T C het . 2 +intergenic MIR514A3(dist=324884),FMR1-AS1(dist=299819) chrX 146691130 146691130 A C het . 2 +intergenic MIR514A3(dist=528874),FMR1-AS1(dist=95829) chrX 146895120 146895120 A C het . 2 +intergenic MIR514A3(dist=536430),FMR1-AS1(dist=88273) chrX 146902676 146902676 C A het . 2 +intergenic MIR514A3(dist=540438),FMR1-AS1(dist=84265) chrX 146906684 146906684 C T het . 2 +intergenic MIR514A3(dist=584485),FMR1-AS1(dist=40218) chrX 146950731 146950731 A G het . 3 +intronic FMR1 chrX 147003564 147003564 T C het . 20 +intronic FMR1 chrX 147014960 147014960 C T het . 7 +intronic FMR1 chrX 147015021 147015021 C T het . 6 +exonic FMR1 chrX 147019040 147019040 C A het . 44 +intronic FMR1 chrX 147021296 147021296 T A het . 2 +intronic FMR1 chrX 147022284 147022284 A G het . 5 +intronic FMR1 chrX 147026266 147026266 G T het . 10 +intronic FMR1 chrX 147026331 147026331 C - het . 14 +intronic FMR1 chrX 147026336 147026336 T - het . 11 +UTR3 FMR1(NM_001185082:c.*942delT,NM_001185081:c.*956delT,NM_001185075:c.*956delT,NM_002024:c.*942delT,NM_001185076:c.*942delT) chrX 147031306 147031306 T - het . 30 +intronic FMR1NB chrX 147065851 147065851 G T het . 2 +intronic FMR1NB chrX 147065870 147065872 CCC AAA het . 2 +exonic FMR1NB chrX 147088249 147088249 C T het . 14 +intronic FMR1NB chrX 147106677 147106677 C A het . 5 +intergenic FMR1NB(dist=19182),AFF2(dist=454770) chrX 147127369 147127369 T C het . 2 +intergenic FMR1NB(dist=19685),AFF2(dist=454267) chrX 147127872 147127872 C T het . 2 +intergenic FMR1NB(dist=92375),AFF2(dist=381577) chrX 147200562 147200562 T C het . 2 +intergenic FMR1NB(dist=148018),AFF2(dist=325934) chrX 147256205 147256205 C T het . 2 +intergenic FMR1NB(dist=155378),AFF2(dist=318574) chrX 147263565 147263565 G C het . 2 +intergenic FMR1NB(dist=171402),AFF2(dist=302550) chrX 147279589 147279589 A G het . 18 +intergenic FMR1NB(dist=171785),AFF2(dist=302167) chrX 147279972 147279972 T C het . 11 +intergenic FMR1NB(dist=172257),AFF2(dist=301695) chrX 147280444 147280444 C T het . 16 +intergenic FMR1NB(dist=213053),AFF2(dist=260899) chrX 147321240 147321240 C G het . 2 +intergenic FMR1NB(dist=226830),AFF2(dist=247122) chrX 147335017 147335017 G T het . 2 +intergenic FMR1NB(dist=326283),AFF2(dist=147669) chrX 147434470 147434470 C T het . 3 +intergenic FMR1NB(dist=364929),AFF2(dist=109023) chrX 147473116 147473116 T C het . 2 +intergenic FMR1NB(dist=438181),AFF2(dist=35771) chrX 147546368 147546368 G A het . 21 +intergenic FMR1NB(dist=452726),AFF2(dist=21226) chrX 147560913 147560913 G T het . 3 +intronic AFF2 chrX 147684050 147684050 A T het . 2 +intronic AFF2 chrX 147686252 147686252 A T het . 2 +intronic AFF2 chrX 147688020 147688020 - A het . 2 +intronic AFF2 chrX 147708828 147708828 G T het . 2 +intronic AFF2 chrX 147767359 147767359 G A het . 2 +intronic AFF2 chrX 147781135 147781135 A T het . 2 +intronic AFF2 chrX 147837936 147837936 T C het . 2 +intronic AFF2 chrX 147838148 147838148 C T het . 4 +intronic AFF2 chrX 147857386 147857386 - T het . 2 +intronic AFF2 chrX 147876910 147876910 G A het . 2 +intronic AFF2 chrX 147891558 147891558 T C het . 4 +intronic AFF2 chrX 147943667 147943667 A G het . 2 +intronic AFF2 chrX 147979403 147979403 G T het . 2 +intronic AFF2 chrX 148036943 148036943 A G het . 2 +intronic AFF2 chrX 148037055 148037055 G C het . 3 +intronic AFF2 chrX 148055144 148055144 A G het . 4 +intronic AFF2 chrX 148062377 148062377 G A het . 11 +intronic AFF2 chrX 148062498 148062498 C G het . 2 +intergenic AFF2(dist=17252),IDS(dist=459076) chrX 148099445 148099445 G C het . 2 +intergenic AFF2(dist=17272),IDS(dist=459056) chrX 148099465 148099465 A T het . 1 +intergenic AFF2(dist=17285),IDS(dist=459043) chrX 148099478 148099478 G T het . 1 +intergenic AFF2(dist=33687),IDS(dist=442641) chrX 148115880 148115880 C A het . 2 +intergenic AFF2(dist=126551),IDS(dist=349777) chrX 148208744 148208744 G A het . 2 +intergenic AFF2(dist=201270),IDS(dist=275058) chrX 148283463 148283463 T A het . 3 +intergenic AFF2(dist=201280),IDS(dist=275048) chrX 148283473 148283473 A G het . 2 +intergenic AFF2(dist=226609),IDS(dist=249719) chrX 148308802 148308802 G A het . 2 +intergenic AFF2(dist=243790),IDS(dist=232538) chrX 148325983 148325983 G A het . 2 +intergenic AFF2(dist=279953),IDS(dist=196375) chrX 148362146 148362146 C T het . 2 +intergenic AFF2(dist=289077),IDS(dist=187251) chrX 148371270 148371270 C G het . 3 +intergenic AFF2(dist=294779),IDS(dist=181549) chrX 148376972 148376972 T C het . 2 +intergenic AFF2(dist=322209),IDS(dist=154119) chrX 148404402 148404402 T C het . 2 +intergenic AFF2(dist=344765),IDS(dist=131563) chrX 148426958 148426958 T G het . 2 +intergenic AFF2(dist=385012),IDS(dist=91316) chrX 148467205 148467205 T A het . 2 +intergenic AFF2(dist=396506),IDS(dist=79822) chrX 148478699 148478699 G C het . 2 +intergenic AFF2(dist=416031),IDS(dist=60297) chrX 148498224 148498224 T C het . 2 +intergenic AFF2(dist=416051),IDS(dist=60277) chrX 148498244 148498244 G T het . 1 +downstream IDS(dist=581) chrX 148557940 148557940 C G het . 2 +intronic IDS chrX 148568272 148568272 A G het . 2 +intronic IDS chrX 148568291 148568291 T C het . 3 +intronic IDS chrX 148582351 148582353 ATT - het . 6 +exonic IDS chrX 148582549 148582549 G A het . 22 +intronic IDS chrX 148582574 148582574 A - het . 20 +intronic MAGEA11 chrX 148797348 148797348 C T het . 8 +exonic MAGEA11 chrX 148798223 148798223 T C het . 9 +exonic MAGEA8 chrX 149013727 149013727 A G het . 6 +intronic CXorf40B chrX 149105827 149105827 G A het . 2 +ncRNA_intronic LINC00894 chrX 149140348 149140349 TT - het . 2 +ncRNA_intronic LINC00894 chrX 149146482 149146482 A C het . 4 +intergenic LINC00894(dist=59083),MIR2114(dist=152138) chrX 149244101 149244101 G A het . 2 +intergenic LINC00894(dist=64170),MIR2114(dist=147051) chrX 149249188 149249188 T C het . 3 +intergenic LINC00894(dist=90897),MIR2114(dist=120324) chrX 149275915 149275915 - TT het . 3 +intergenic LINC00894(dist=90928),MIR2114(dist=120293) chrX 149275946 149275946 A G het . 2 +intergenic LINC00894(dist=98518),MIR2114(dist=112703) chrX 149283536 149283536 T C het . 19 +intergenic LINC00894(dist=127733),MIR2114(dist=83488) chrX 149312751 149312751 A - het . 2 +intergenic LINC00894(dist=128417),MIR2114(dist=82804) chrX 149313435 149313435 G C het . 2 +intergenic MIR2114(dist=3196),MAMLD1(dist=132031) chrX 149399514 149399514 G A het . 26 +intergenic MIR2114(dist=3860),MAMLD1(dist=131367) chrX 149400178 149400178 C T het . 23 +intergenic MIR2114(dist=4355),MAMLD1(dist=130872) chrX 149400673 149400673 G A het . 12 +intergenic MIR2114(dist=4745),MAMLD1(dist=130482) chrX 149401063 149401063 G C het . 25 +intergenic MIR2114(dist=99544),MAMLD1(dist=35683) chrX 149495862 149495862 - AAG het . 3 +intergenic MIR2114(dist=99569),MAMLD1(dist=35658) chrX 149495887 149495887 T C het . 4 +intronic MAMLD1 chrX 149547621 149547621 T A het . 2 +intronic MAMLD1 chrX 149613617 149613617 T C het . 6 +exonic MAMLD1 chrX 149638920 149638920 C T het . 8 +exonic MAMLD1 chrX 149639325 149639327 CAG - het . 23 +exonic MAMLD1 chrX 149639633 149639635 GCA - het . 40 +intronic MAMLD1 chrX 149641802 149641802 A G het . 3 +exonic MAMLD1 chrX 149642019 149642019 A G het . 45 +intronic MAMLD1 chrX 149643414 149643414 A G het . 3 +intronic MAMLD1 chrX 149672945 149672945 A G het . 2 +exonic MAMLD1 chrX 149680539 149680539 C T het . 3 +exonic MAMLD1 chrX 149680554 149680554 C T het . 6 +intergenic MAMLD1(dist=8950),MTM1(dist=45649) chrX 149691398 149691398 A C het . 4 +intergenic MAMLD1(dist=9026),MTM1(dist=45569) chrX 149691474 149691478 TTTTT - het . 1 +intronic MTM1 chrX 149753611 149753611 T C het . 2 +intronic MTM1 chrX 149783251 149783251 - A het . 10 +intronic MTM1 chrX 149826503 149826503 G A het . 26 +intronic MTMR1 chrX 149887055 149887055 C - het . 2 +intronic MTMR1 chrX 149894597 149894597 T C het . 5 +intronic MTMR1 chrX 149895603 149895603 - AT het . 5 +exonic MTMR1 chrX 149931106 149931106 C T het . 14 +UTR3 MTMR1(NM_001353993:c.*2139T>C,NM_001353994:c.*2139T>C,NM_001353991:c.*2139T>C,NM_001353992:c.*2139T>C,NM_001353990:c.*2139T>C,NM_003828:c.*365T>C,NM_001306144:c.*2139T>C,NM_001353996:c.*2139T>C,NM_001353995:c.*2139T>C) chrX 149933341 149933341 T C het . 2 +intronic CD99L2 chrX 149946012 149946012 C A het . 8 +intronic CD99L2 chrX 149966471 149966471 C T het . 7 +intronic CD99L2 chrX 149966578 149966578 C G het . 3 +intronic CD99L2 chrX 149966580 149966580 C G het . 3 +exonic HMGB3 chrX 150154648 150154648 C A het . 10 +intergenic HMGB3(dist=2987),MIR4330(dist=174459) chrX 150162235 150162235 C T het . 19 +intergenic HMGB3(dist=3132),MIR4330(dist=174314) chrX 150162380 150162380 C T het . 24 +intergenic HMGB3(dist=6413),MIR4330(dist=171033) chrX 150165661 150165661 C T het . 8 +intergenic HMGB3(dist=49477),MIR4330(dist=127969) chrX 150208725 150208725 T C het . 2 +intergenic HMGB3(dist=87490),MIR4330(dist=89956) chrX 150246738 150246738 T C het . 2 +intergenic HMGB3(dist=107763),MIR4330(dist=69683) chrX 150267011 150267011 C T het . 3 +intergenic HMGB3(dist=138500),MIR4330(dist=38943) chrX 150297748 150297751 TGAT - het . 4 +intronic GPR50 chrX 150348228 150348228 C T het . 3 +exonic GPR50 chrX 150349558 150349569 CACCACTGGCCA - het . 16 +exonic GPR50 chrX 150349649 150349649 A G het . 15 +exonic GPR50 chrX 150349871 150349871 A G het . 6 +downstream GPR50(dist=985) chrX 150350922 150350922 A T het . 2 +intergenic GPR50(dist=11708),VMA21(dist=203422) chrX 150361645 150361645 T C het . 2 +intergenic GPR50(dist=14288),VMA21(dist=200842) chrX 150364225 150364225 G A het . 2 +intergenic GPR50(dist=44575),VMA21(dist=170555) chrX 150394512 150394512 T G het . 3 +intergenic GPR50(dist=45016),VMA21(dist=170114) chrX 150394953 150394953 T C het . 15 +intergenic GPR50(dist=46285),VMA21(dist=168845) chrX 150396222 150396222 G A het . 2 +intergenic GPR50(dist=46322),VMA21(dist=168808) chrX 150396259 150396259 C A het . 2 +intergenic GPR50(dist=60107),VMA21(dist=155023) chrX 150410044 150410044 - TC het . 2 +intergenic GPR50(dist=60110),VMA21(dist=155020) chrX 150410047 150410047 - TTGT het . 2 +intergenic GPR50(dist=62675),VMA21(dist=152455) chrX 150412612 150412612 C T het . 2 +intergenic GPR50(dist=63970),VMA21(dist=151160) chrX 150413907 150413907 G C het . 2 +intergenic GPR50(dist=66558),VMA21(dist=148572) chrX 150416495 150416495 A G het . 2 +intergenic GPR50(dist=66608),VMA21(dist=148522) chrX 150416545 150416545 C G het . 2 +intergenic GPR50(dist=171160),VMA21(dist=43970) chrX 150521097 150521097 T C het . 2 +intergenic GPR50(dist=193497),VMA21(dist=21633) chrX 150543434 150543434 T - het . 2 +intergenic GPR50(dist=195171),VMA21(dist=19959) chrX 150545108 150545108 A C het . 2 +intergenic VMA21(dist=31562),LOC105377213(dist=74624) chrX 150609398 150609399 AA - het . 2 +intronic PASD1 chrX 150789177 150789177 G A het . 2 +intronic PASD1 chrX 150789334 150789334 - A het . 7 +intronic PASD1 chrX 150789690 150789690 C T het . 5 +intronic PASD1 chrX 150789767 150789767 C T het . 2 +intronic PASD1 chrX 150789950 150789950 C T het . 20 +intronic PASD1 chrX 150792138 150792138 G T het . 2 +intronic PASD1 chrX 150811536 150811536 G A het . 2 +intronic PASD1 chrX 150816952 150816952 A G het . 6 +exonic PASD1 chrX 150840742 150840742 G A het . 29 +intronic PRRG3 chrX 150867449 150867449 T A het . 3 +intergenic PRRG3(dist=3588),FATE1(dist=10857) chrX 150873651 150873651 G T het . 8 +intergenic CNGA2(dist=20079),MAGEA4-AS1(dist=138780) chrX 150934115 150934123 CAGCAGCAG - het . 2 +intergenic CNGA2(dist=97715),MAGEA4-AS1(dist=61152) chrX 151011751 151011751 C G het . 2 +UTR5 MAGEA4(NM_001011548:c.-11C>G,NM_002362:c.-11C>G,NM_001011549:c.-11C>G,NM_001011550:c.-11C>G) chrX 151092126 151092126 C G het . 17 +exonic MAGEA4 chrX 151092220 151092220 A G het . 10 +exonic MAGEA4 chrX 151092653 151092653 G A het . 28 +intergenic MAGEA4(dist=8760),GABRE(dist=19194) chrX 151102402 151102402 C T het . 3 +intergenic MAGEA4(dist=17947),GABRE(dist=10007) chrX 151111589 151111589 A C het . 2 +intergenic GABRE(dist=114342),MAGEA5(dist=25028) chrX 151257493 151257493 C T het . 2 +intergenic GABRE(dist=116144),MAGEA5(dist=23226) chrX 151259295 151259295 A C het . 2 +intergenic GABRE(dist=120971),MAGEA5(dist=18399) chrX 151264122 151264122 C T het . 3 +intergenic GABRE(dist=127065),MAGEA5(dist=12305) chrX 151270216 151270216 - G het . 2 +UTR3 MAGEA10-MAGEA5(NM_001204811:c.*981C>G),MAGEA5(NM_021049:c.*981C>G) chrX 151282657 151282657 G C het . 4 +UTR3 MAGEA10-MAGEA5(NM_001204811:c.*302A>G),MAGEA5(NM_021049:c.*302A>G) chrX 151283336 151283336 T C het . 11 +UTR3 MAGEA10-MAGEA5(NM_001204811:c.*201_*197delGATAA),MAGEA5(NM_021049:c.*201_*197delGATAA) chrX 151283437 151283441 TTATC - het . 9 +UTR3 MAGEA10-MAGEA5(NM_001204811:c.*71T>A),MAGEA5(NM_021049:c.*71T>A) chrX 151283567 151283567 A T het . 12 +UTR3 MAGEA10-MAGEA5(NM_001204811:c.*39A>C),MAGEA5(NM_021049:c.*39A>C) chrX 151283599 151283599 T G het . 10 +intronic MAGEA10-MAGEA5 chrX 151290714 151290714 C T het . 2 +exonic MAGEA10 chrX 151303393 151303393 C T het . 9 +exonic MAGEA10 chrX 151303596 151303596 C T het . 27 +intronic GABRA3 chrX 151351484 151351484 C T het . 2 +intronic GABRA3 chrX 151370339 151370339 C A het . 2 +intronic GABRA3 chrX 151533170 151533170 C T het . 4 +intronic GABRA3 chrX 151580136 151580136 A C het . 2 +intergenic GABRA3(dist=29235),GABRQ(dist=157571) chrX 151649066 151649066 T G het . 20 +exonic GABRQ chrX 151821277 151821277 T A het . 14 +exonic MAGEA6 chrX 151869765 151869765 G T het . 16 +ncRNA_intronic CSAG4 chrX 151899355 151899355 T C het . 3 +ncRNA_intronic CSAG4 chrX 151899760 151899760 A G het . 6 +ncRNA_intronic CSAG4 chrX 151899789 151899789 G A het . 4 +ncRNA_intronic CSAG4 chrX 151899818 151899818 C T het . 2 +exonic MAGEA12 chrX 151899913 151899913 T C het . 20 +exonic CSAG1 chrX 151908844 151908845 AC TG het . 20 +exonic CSAG1 chrX 151909156 151909156 A G het . 25 +intergenic MAGEA3(dist=28665),CETN2(dist=28966) chrX 151966905 151966905 - A het . 2 +intronic CETN2 chrX 151996540 151996540 T - het . 7 +splicing CETN2(NM_004344:exon4:c.292-1G>T) chrX 151997219 151997219 C A het . 20 +intronic CETN2 chrX 151997273 151997273 A C het . 7 +exonic NSDHL chrX 152018832 152018832 T G het . 22 +intergenic NSDHL(dist=34061),ZNF185(dist=11018) chrX 152071968 152071968 A G het . 4 +intergenic NSDHL(dist=34108),ZNF185(dist=10971) chrX 152072015 152072015 G C het . 2 +intronic ZNF185 chrX 152089039 152089039 G A het . 3 +intronic ZNF185 chrX 152105091 152105091 C T het . 3 +intergenic PNMA5(dist=9706),PNMA3(dist=52389) chrX 152172377 152172377 T C het . 2 +intergenic PNMA5(dist=57777),PNMA3(dist=4318) chrX 152220448 152220448 C T het . 9 +exonic PNMA3 chrX 152226542 152226542 T C het . 8 +intergenic PNMA6A(dist=20974),MAGEA1(dist=119684) chrX 152361838 152361838 C T het . 3 +intergenic PNMA6A(dist=28420),MAGEA1(dist=112238) chrX 152369284 152369284 A C het . 2 +intergenic PNMA6A(dist=75027),MAGEA1(dist=65631) chrX 152415891 152415891 A - het . 2 +intergenic PNMA6A(dist=75162),MAGEA1(dist=65496) chrX 152416026 152416026 T C het . 5 +intronic ZNF275 chrX 152609668 152609668 T C het . 12 +intronic ZNF275 chrX 152610051 152610051 A T het . 5 +intronic ZNF275 chrX 152610108 152610108 G C het . 13 +intronic ZNF275 chrX 152610294 152610294 A G het . 3 +intronic ZNF275 chrX 152610947 152610947 T C het . 11 +intergenic PNMA6E(dist=2284),ZFP92(dist=14619) chrX 152669162 152669162 A G het . 1 +exonic HAUS7 chrX 152721213 152721213 C A het . 7 +intronic HAUS7 chrX 152728003 152728003 T C het . 6 +intergenic HAUS7(dist=15243),BGN(dist=9015) chrX 152751332 152751332 G C het . 2 +intergenic HAUS7(dist=15408),BGN(dist=8850) chrX 152751497 152751497 G A het . 10 +intergenic HAUS7(dist=16852),BGN(dist=7406) chrX 152752941 152752941 C A het . 2 +exonic BGN chrX 152770230 152770230 G A het . 23 +intronic BGN chrX 152771215 152771215 A - het . 3 +intronic BGN chrX 152772473 152772473 C T het . 9 +intronic BGN chrX 152772758 152772758 T C het . 2 +intergenic BGN(dist=15175),ATP2B3(dist=11393) chrX 152790187 152790187 G C het . 1 +intergenic BGN(dist=16557),ATP2B3(dist=10011) chrX 152791569 152791569 T G het . 2 +intergenic BGN(dist=16574),ATP2B3(dist=9994) chrX 152791586 152791586 G A het . 2 +intronic ATP2B3 chrX 152807425 152807425 G A het . 3 +intronic ATP2B3 chrX 152807923 152807923 G C het . 4 +intronic ATP2B3 chrX 152811449 152811450 AC CA het . 8 +exonic ATP2B3 chrX 152815089 152815089 A G het . 18 +intronic ATP2B3 chrX 152818435 152818435 G A het . 5 +intronic ATP2B3 chrX 152821887 152821887 C T het . 3 +exonic ATP2B3 chrX 152823728 152823728 G C het . 8 +intronic ATP2B3 chrX 152825414 152825414 G T het . 6 +intronic ATP2B3 chrX 152825433 152825433 A G het . 4 +intronic ATP2B3 chrX 152827445 152827445 A G het . 4 +intronic ATP2B3 chrX 152834736 152834736 T C het . 22 +intronic ATP2B3 chrX 152834891 152834891 G C het . 4 +exonic;splicing CCNQ;CCNQ(NM_152274:exon1:c.16+1->G,NM_001130997:exon1:c.16+1->G) chrX 152864513 152864513 - C het . 2 +UTR5 CCNQ(NM_152274:c.-81_-80insG,NM_001130997:c.-81_-80insG) chrX 152864609 152864609 - C het . 2 +ncRNA_exonic LOC105373383 chrX 152864929 152864929 G A het . 2 +intergenic LOC105373383(dist=4893),DUSP9(dist=37655) chrX 152870241 152870242 GA TT het . 18 +intergenic LOC105373383(dist=31150),DUSP9(dist=11399) chrX 152896498 152896498 T C het . 2 +intergenic LOC105373383(dist=34742),DUSP9(dist=7807) chrX 152900090 152900090 C T het . 3 +intronic DUSP9 chrX 152908887 152908887 G A het . 6 +intergenic DUSP9(dist=2182),PNCK(dist=16225) chrX 152918963 152918963 A G het . 2 +intergenic DUSP9(dist=2184),PNCK(dist=16223) chrX 152918965 152918965 - AA het . 2 +exonic PNCK chrX 152935987 152935987 G A het . 13 +upstream SLC6A8(dist=927) chrX 152952825 152952825 G C het . 10 +UTR5 SLC6A8(NM_001142805:c.-5A>G,NM_005629:c.-5A>G) chrX 152954025 152954025 A G het . 7 +intronic ABCD1 chrX 153008911 153008911 C T het . 9 +UTR3 ABCD1(NM_000033:c.*8G>C) chrX 153009197 153009197 G C het . 4 +downstream ABCD1(dist=51) chrX 153010267 153010267 G A het . 2 +intronic PLXNB3 chrX 153036884 153036884 C T het . 6 +intronic PLXNB3 chrX 153037275 153037275 C T het . 5 +intronic PLXNB3 chrX 153037594 153037594 C G het . 1 +intronic PLXNB3 chrX 153037779 153037779 G A het . 2 +exonic PLXNB3 chrX 153039502 153039502 G C het . 3 +intronic PLXNB3 chrX 153039615 153039615 A G het . 3 +exonic PLXNB3 chrX 153041544 153041544 T C het . 6 +upstream SRPK3(dist=644) chrX 153045812 153045812 C T het . 24 +intronic SRPK3 chrX 153047297 153047297 C T het . 6 +exonic SRPK3 chrX 153049535 153049535 A G het . 10 +UTR3 SRPK3(NM_014370:c.*9G>A,NM_001170761:c.*9G>A,NM_001170760:c.*9G>A) chrX 153050984 153050984 G A het . 3 +intronic IDH3G chrX 153051907 153051907 G A het . 13 +intronic IDH3G chrX 153052649 153052649 C A het . 5 +intronic IDH3G chrX 153052661 153052661 A G het . 4 +intronic IDH3G chrX 153053698 153053698 - G het . 7 +intronic SSR4 chrX 153061775 153061775 A G het . 2 +intronic SSR4 chrX 153063600 153063600 C A het . 13 +intronic PDZD4 chrX 153072107 153072107 T C het . 4 +intronic PDZD4 chrX 153073319 153073319 G A het . 3 +intergenic PDZD4(dist=10936),L1CAM(dist=20011) chrX 153106958 153106958 G A het . 22 +intronic L1CAM chrX 153129556 153129556 G A het . 6 +intronic L1CAM chrX 153140449 153140449 C T het . 1 +ncRNA_exonic LCA10 chrX 153149708 153149708 - C het . 6 +ncRNA_exonic LCA10 chrX 153149715 153149715 C G het . 5 +ncRNA_intronic LCA10 chrX 153150791 153150791 C T het . 13 +ncRNA_intronic LCA10 chrX 153150929 153150929 G A het . 9 +ncRNA_exonic LCA10 chrX 153151277 153151277 C G het . 2 +ncRNA_exonic LCA10 chrX 153151280 153151280 - CC het . 3 +ncRNA_exonic LCA10 chrX 153151285 153151285 T - het . 4 +UTR5 AVPR2(NM_001146151:c.-153_-152insC,NM_000054:c.-153_-152insC) chrX 153170447 153170447 - C het . 4 +intronic AVPR2 chrX 153170980 153170980 T G het . 18 +exonic AVPR2 chrX 153171993 153171993 A G het . 3 +intronic ARHGAP4 chrX 153174867 153174867 - G het . 3 +exonic ARHGAP4 chrX 153176254 153176254 A G het . 3 +intronic ARHGAP4 chrX 153178459 153178459 - C het . 3 +intronic ARHGAP4 chrX 153183987 153183987 C A het . 3 +intronic ARHGAP4 chrX 153186484 153186484 - C het . 2 +UTR5 RENBP(NM_002910:c.-118_-117insC) chrX 153210179 153210179 - G het . 2 +UTR5 RENBP(NM_002910:c.-134_-133insGC) chrX 153210195 153210195 - GC het . 2 +UTR5 RENBP(NM_002910:c.-138delT) chrX 153210200 153210200 A - het . 2 +exonic HCFC1 chrX 153215839 153215839 G A het . 4 +UTR3 TMEM187(NM_003492:c.*111C>T) chrX 153248410 153248410 C T het . 8 +intergenic TMEM187(dist=12099),IRAK1(dist=15212) chrX 153260745 153260745 C T het . 2 +downstream IRAK1(dist=882) chrX 153275075 153275075 G A het . 1 +UTR3 IRAK1(NM_001569:c.*102T>G,NM_001025243:c.*102T>G,NM_001025242:c.*102T>G) chrX 153277208 153277208 A C het . 12 +exonic IRAK1 chrX 153278829 153278829 G A het . 4 +intronic IRAK1 chrX 153279858 153279858 G A het . 3 +exonic IRAK1 chrX 153284192 153284192 A G het . 11 +exonic IRAK1 chrX 153284483 153284483 G A het . 5 +intronic MECP2 chrX 153352018 153352018 T - het . 3 +intronic MECP2 chrX 153357615 153357615 A - het . 8 +intergenic MECP2(dist=9317),OPN1LW(dist=37193) chrX 153372505 153372505 T C het . 2 +intergenic MECP2(dist=30829),OPN1LW(dist=15681) chrX 153394017 153394017 A G het . 3 +intronic OPN1LW chrX 153416537 153416537 A C het . 3 +intronic EMD chrX 153608392 153608392 T G het . 9 +exonic DNASE1L1 chrX 153633359 153633359 G C het . 14 +UTR5 TAZ(NM_001303465:c.-120del-,NM_181313:c.-120del-,NM_181312:c.-120del-,NM_181311:c.-120del-,NM_000116:c.-120del-) chrX 153640061 153640061 T - het . 12 +intronic TAZ chrX 153641619 153641619 C T het . 28 +UTR3 TAZ(NM_001303465:c.*470G>C,NM_181313:c.*470G>C,NM_181312:c.*470G>C,NM_181311:c.*470G>C,NM_000116:c.*470G>C) chrX 153649813 153649813 G C het . 22 +downstream TAZ(dist=576) chrX 153650639 153650639 C T het . 2 +exonic ATP6AP1 chrX 153657083 153657083 A G het . 10 +intronic GDI1 chrX 153667108 153667108 C T het . 20 +intronic GDI1 chrX 153668023 153668023 A - het . 12 +intronic GDI1 chrX 153668172 153668172 A G het . 22 +intronic FAM50A chrX 153676926 153676926 C A het . 20 +intronic FAM3A chrX 153740560 153740560 - AAT het . 5 +intronic GAB3 chrX 153949217 153949217 C T het . 2 +intronic GAB3 chrX 153974683 153974683 T G het . 2 +intronic DKC1 chrX 153994470 153994470 T - het . 24 +exonic DKC1 chrX 153994596 153994596 G T het . 18 +intronic DKC1 chrX 153994771 153994771 A - het . 6 +intronic DKC1 chrX 153998497 153998497 A G het . 2 +exonic DKC1 chrX 153999109 153999109 C A het . 26 +exonic DKC1 chrX 154005089 154005091 AAG - het . 22 +intronic MPP1 chrX 154013483 154013483 - C het . 4 +intronic MPP1 chrX 154019083 154019083 T C het . 4 +exonic MPP1 chrX 154020114 154020114 C A het . 17 +UTR3 SMIM9(NM_001162936:c.*139C>T) chrX 154051891 154051891 G A het . 7 +exonic F8 chrX 154066005 154066005 G A het . 21 +intronic F8 chrX 154078760 154078760 - T het . 4 +intronic F8 chrX 154081354 154081354 G A het . 2 +intronic F8 chrX 154088986 154088986 C A het . 11 +intronic F8 chrX 154127937 154127937 G A het . 5 +intronic F8 chrX 154133317 154133318 AA - het . 24 +intronic F8 chrX 154173530 154173530 G T het . 2 +exonic F8 chrX 154185384 154185384 C A het . 30 +intronic BRCC3 chrX 154301623 154301623 T - het . 13 +intronic BRCC3 chrX 154346551 154346551 G A het . 2 +intergenic BRCC3(dist=52708),VBP1(dist=21227) chrX 154404057 154404057 A C het . 2 +intergenic BRCC3(dist=58313),VBP1(dist=15622) chrX 154409662 154409662 T C het . 2 +intronic VBP1 chrX 154448255 154448255 A - het . 6 +exonic VBP1 chrX 154456747 154456747 A G het . 16 +intronic CLIC2 chrX 154520032 154520032 C A het . 16 +intergenic F8A1(dist=11359),F8A1(dist=61766) chrX 154624809 154624809 T C het . 2 +intergenic F8A1(dist=33664),F8A1(dist=39461) chrX 154647114 154647114 A C het . 2 +intergenic F8A1(dist=59396),F8A1(dist=13729) chrX 154672846 154672846 G A het . 3 +intergenic F8A1(dist=67378),F8A1(dist=5747) chrX 154680828 154680828 C T het . 2 +intronic TMLHE chrX 154736968 154736968 T G het . 5 +intronic TMLHE chrX 154754455 154754455 T C het . 1 +intronic TMLHE chrX 154758477 154758477 T C het . 2 +intronic TMLHE chrX 154774663 154774663 G A het . 12 +intronic TMLHE chrX 154774707 154774707 C T het . 8 +intronic TMLHE chrX 154787056 154787056 C T het . 2 +intronic TMLHE chrX 154805102 154805102 G C het . 2 +intronic SPRY3 chrX 154850125 154850125 T A het . 2 +intronic SPRY3 chrX 154870197 154870197 T C het . 2 +intergenic TTTY23B(dist=180535),NONE(dist=NONE) chrY 9930106 9930106 G C het . 2 +intergenic TTTY23B(dist=180558),NONE(dist=NONE) chrY 9930129 9930129 C - het . 2 +intergenic TTTY23B(dist=180578),NONE(dist=NONE) chrY 9930149 9930149 C T het . 2 +intergenic TTTY23B(dist=188243),NONE(dist=NONE) chrY 9937814 9937814 T - het . 3 +intergenic TTTY23B(dist=189337),NONE(dist=NONE) chrY 9938908 9938908 C - het . 2 +intergenic TTTY23B(dist=189342),NONE(dist=NONE) chrY 9938913 9938913 T - het . 2 +intergenic TTTY23B(dist=189346),NONE(dist=NONE) chrY 9938917 9938917 C T het . 2 +intergenic TTTY23B(dist=189364),NONE(dist=NONE) chrY 9938935 9938935 G A het . 2 +intergenic TTTY23B(dist=189373),NONE(dist=NONE) chrY 9938944 9938944 C G het . 1 +intergenic TTTY23B(dist=189376),NONE(dist=NONE) chrY 9938947 9938947 C T het . 1 +intergenic TTTY23B(dist=190245),NONE(dist=NONE) chrY 9939816 9939816 C G het . 2 +intergenic TTTY23B(dist=191612),NONE(dist=NONE) chrY 9941183 9941183 G A het . 3 +intergenic TTTY23B(dist=191619),NONE(dist=NONE) chrY 9941190 9941190 G A het . 3 +intergenic TTTY23B(dist=191646),NONE(dist=NONE) chrY 9941217 9941217 A G het . 2 +intergenic TTTY23B(dist=192071),NONE(dist=NONE) chrY 9941642 9941642 C T het . 2 +intergenic TTTY23B(dist=192123),NONE(dist=NONE) chrY 9941694 9941694 G T het . 2 +intergenic TTTY23B(dist=195585),NONE(dist=NONE) chrY 9945156 9945156 T A het . 2 +intergenic TTTY23B(dist=197644),NONE(dist=NONE) chrY 9947215 9947215 C G het . 2 +intergenic TTTY23B(dist=200971),NONE(dist=NONE) chrY 9950542 9950542 G A het . 1 +intergenic TTTY23B(dist=201128),NONE(dist=NONE) chrY 9950699 9950699 C A het . 1 +intergenic TTTY23B(dist=201132),NONE(dist=NONE) chrY 9950703 9950703 C T het . 1 +intergenic TTTY23B(dist=201388),NONE(dist=NONE) chrY 9950959 9950959 T G het . 2 +intergenic TTTY23B(dist=201428),NONE(dist=NONE) chrY 9950999 9950999 A T het . 3 +intergenic TTTY23B(dist=201655),NONE(dist=NONE) chrY 9951226 9951226 A G het . 4 +intergenic TTTY23B(dist=201662),NONE(dist=NONE) chrY 9951233 9951233 A G het . 4 +intergenic TTTY23B(dist=202069),NONE(dist=NONE) chrY 9951640 9951640 A C het . 2 +intergenic TTTY23B(dist=202071),NONE(dist=NONE) chrY 9951642 9951642 T A het . 2 +intergenic TTTY23B(dist=202106),NONE(dist=NONE) chrY 9951677 9951677 A G het . 2 +intergenic TTTY23B(dist=202317),NONE(dist=NONE) chrY 9951888 9951888 T C het . 2 +intergenic TTTY23B(dist=202333),NONE(dist=NONE) chrY 9951904 9951904 A - het . 4 +intergenic TTTY23B(dist=202361),NONE(dist=NONE) chrY 9951932 9951932 A G het . 7 +intergenic TTTY23B(dist=202389),NONE(dist=NONE) chrY 9951960 9951960 G T het . 8 +intergenic TTTY23B(dist=202401),NONE(dist=NONE) chrY 9951972 9951972 T G het . 7 +intergenic TTTY23B(dist=202409),NONE(dist=NONE) chrY 9951980 9951980 G A het . 6 +intergenic TTTY23B(dist=202411),NONE(dist=NONE) chrY 9951982 9951982 C T het . 6 +intergenic TTTY23B(dist=202443),NONE(dist=NONE) chrY 9952014 9952014 A T het . 4 +intergenic TTTY23B(dist=202987),NONE(dist=NONE) chrY 9952558 9952558 C A het . 1 +intergenic TTTY23B(dist=202994),NONE(dist=NONE) chrY 9952565 9952565 A G het . 2 +intergenic TTTY23B(dist=203040),NONE(dist=NONE) chrY 9952611 9952611 C A het . 3 +intergenic TTTY23B(dist=204262),NONE(dist=NONE) chrY 9953833 9953833 T G het . 2 +intergenic TTTY23B(dist=204380),NONE(dist=NONE) chrY 9953951 9953951 A T het . 2 +intergenic TTTY23B(dist=204385),NONE(dist=NONE) chrY 9953956 9953956 C G het . 2 +intergenic TTTY23B(dist=204389),NONE(dist=NONE) chrY 9953960 9953960 A G het . 2 +intergenic TTTY23B(dist=210749),NONE(dist=NONE) chrY 9960320 9960320 - A het . 2 +intergenic TTTY23B(dist=210779),NONE(dist=NONE) chrY 9960350 9960350 C A het . 2 +intergenic TTTY23B(dist=218407),NONE(dist=NONE) chrY 9967978 9967981 CCCA - het . 3 +intergenic TTTY23B(dist=218417),NONE(dist=NONE) chrY 9967988 9967988 C G het . 3 +intergenic TTTY23B(dist=218427),NONE(dist=NONE) chrY 9967998 9967998 A G het . 3 +intergenic TTTY23B(dist=218441),NONE(dist=NONE) chrY 9968012 9968012 G T het . 3 +intergenic TTTY23B(dist=218444),NONE(dist=NONE) chrY 9968015 9968015 C G het . 2 +intergenic TTTY23B(dist=240508),NONE(dist=NONE) chrY 9990079 9990080 TA AG het . 1 +intergenic TTTY23B(dist=242559),NONE(dist=NONE) chrY 9992130 9992130 T C het . 3 +intergenic TTTY23B(dist=247456),NONE(dist=NONE) chrY 9997027 9997027 G T het . 2 +intergenic TTTY23B(dist=261864),NONE(dist=NONE) chrY 10011435 10011435 A C het . 5 +intergenic TTTY23B(dist=262077),NONE(dist=NONE) chrY 10011648 10011648 T G het . 4 +intergenic TTTY23B(dist=262102),NONE(dist=NONE) chrY 10011673 10011673 G A het . 5 +intergenic TTTY23B(dist=262106),NONE(dist=NONE) chrY 10011677 10011677 G A het . 5 +intergenic TTTY23B(dist=262126),NONE(dist=NONE) chrY 10011697 10011697 G T het . 6 +intergenic TTTY23B(dist=262127),NONE(dist=NONE) chrY 10011698 10011698 A G het . 6 +intergenic TTTY23B(dist=262360),NONE(dist=NONE) chrY 10011931 10011931 C A het . 7 +intergenic TTTY23B(dist=262389),NONE(dist=NONE) chrY 10011960 10011960 T C het . 6 +intergenic TTTY23B(dist=262396),NONE(dist=NONE) chrY 10011967 10011967 T - het . 5 +intergenic TTTY23B(dist=263680),NONE(dist=NONE) chrY 10013251 10013251 A G het . 1 +intergenic TTTY23B(dist=263685),NONE(dist=NONE) chrY 10013256 10013256 A G het . 1 +intergenic TTTY23B(dist=263689),NONE(dist=NONE) chrY 10013260 10013260 A - het . 1 +intergenic TTTY23B(dist=263707),NONE(dist=NONE) chrY 10013278 10013278 C T het . 1 +intergenic TTTY23B(dist=263711),NONE(dist=NONE) chrY 10013282 10013283 CT AA het . 1 +intergenic TTTY23B(dist=263718),NONE(dist=NONE) chrY 10013289 10013289 G A het . 1 +intergenic TTTY23B(dist=266205),NONE(dist=NONE) chrY 10015776 10015776 A G het . 4 +intergenic TTTY23B(dist=266213),NONE(dist=NONE) chrY 10015784 10015784 C T het . 3 +intergenic TTTY23B(dist=266417),NONE(dist=NONE) chrY 10015988 10015988 T C het . 2 +intergenic TTTY23B(dist=266435),NONE(dist=NONE) chrY 10016006 10016006 T C het . 2 +intergenic TTTY23B(dist=267926),NONE(dist=NONE) chrY 10017497 10017497 C T het . 2 +intergenic TTTY23B(dist=267931),NONE(dist=NONE) chrY 10017502 10017502 C T het . 2 +intergenic TTTY23B(dist=267956),NONE(dist=NONE) chrY 10017527 10017527 C T het . 2 +intergenic TTTY23B(dist=268057),NONE(dist=NONE) chrY 10017628 10017628 T C het . 5 +intergenic TTTY23B(dist=268088),NONE(dist=NONE) chrY 10017659 10017659 T C het . 5 +intergenic TTTY23B(dist=268091),NONE(dist=NONE) chrY 10017662 10017662 C T het . 5 +intergenic TTTY23B(dist=268093),NONE(dist=NONE) chrY 10017664 10017664 A G het . 5 +intergenic TTTY23B(dist=268098),NONE(dist=NONE) chrY 10017669 10017669 G A het . 4 +intergenic TTTY23B(dist=268564),NONE(dist=NONE) chrY 10018135 10018135 T G het . 2 +intergenic TTTY23B(dist=269413),NONE(dist=NONE) chrY 10018984 10018984 T G het . 2 +intergenic TTTY23B(dist=278624),NONE(dist=NONE) chrY 10028195 10028195 A G het . 3 +intergenic TTTY23B(dist=278642),NONE(dist=NONE) chrY 10028213 10028213 T C het . 3 +intergenic TTTY23B(dist=278666),NONE(dist=NONE) chrY 10028237 10028237 G A het . 3 +intergenic TTTY23B(dist=278681),NONE(dist=NONE) chrY 10028252 10028252 T C het . 3 +intergenic TTTY23B(dist=279193),NONE(dist=NONE) chrY 10028764 10028764 A C het . 4 +intergenic TTTY23B(dist=279200),NONE(dist=NONE) chrY 10028771 10028771 T A het . 4 +intergenic TTTY23B(dist=279209),NONE(dist=NONE) chrY 10028780 10028780 T C het . 4 +intergenic TTTY23B(dist=279212),NONE(dist=NONE) chrY 10028783 10028783 T C het . 4 +intergenic TTTY23B(dist=279678),NONE(dist=NONE) chrY 10029249 10029249 G T het . 3 +intergenic TTTY23B(dist=279693),NONE(dist=NONE) chrY 10029264 10029264 C A het . 2 +intergenic TTTY23B(dist=279701),NONE(dist=NONE) chrY 10029272 10029272 T C het . 5 +intergenic TTTY23B(dist=279711),NONE(dist=NONE) chrY 10029282 10029293 TGTGTCCTGGGG - het . 12 +intergenic TTTY23B(dist=279737),NONE(dist=NONE) chrY 10029308 10029308 A T het . 16 +intergenic TTTY23B(dist=279751),NONE(dist=NONE) chrY 10029322 10029322 T C het . 13 +intergenic TTTY23B(dist=279769),NONE(dist=NONE) chrY 10029340 10029340 T C het . 13 +intergenic TTTY23B(dist=280066),NONE(dist=NONE) chrY 10029637 10029637 T - het . 7 +intergenic TTTY23B(dist=280084),NONE(dist=NONE) chrY 10029655 10029655 G A het . 9 +intergenic TTTY23B(dist=280124),NONE(dist=NONE) chrY 10029695 10029695 G T het . 9 +intergenic TTTY23B(dist=280140),NONE(dist=NONE) chrY 10029711 10029711 A C het . 3 +intergenic TTTY23B(dist=282059),NONE(dist=NONE) chrY 10031630 10031630 T C het . 1 +intergenic TTTY23B(dist=282088),NONE(dist=NONE) chrY 10031659 10031659 A G het . 3 +intergenic TTTY23B(dist=282096),NONE(dist=NONE) chrY 10031667 10031667 G C het . 3 +intergenic TTTY23B(dist=282124),NONE(dist=NONE) chrY 10031695 10031695 A G het . 4 +intergenic TTTY23B(dist=282143),NONE(dist=NONE) chrY 10031714 10031714 C T het . 6 +intergenic TTTY23B(dist=282148),NONE(dist=NONE) chrY 10031719 10031720 AG CA het . 6 +intergenic TTTY23B(dist=282170),NONE(dist=NONE) chrY 10031741 10031741 C A het . 4 +intergenic TTTY23B(dist=282197),NONE(dist=NONE) chrY 10031768 10031768 T A het . 3 +intergenic TTTY23B(dist=282199),NONE(dist=NONE) chrY 10031770 10031770 A G het . 3 +intergenic TTTY23B(dist=284228),NONE(dist=NONE) chrY 10033799 10033799 G A het . 2 +intergenic TTTY23B(dist=284361),NONE(dist=NONE) chrY 10033932 10033932 T C het . 3 +intergenic TTTY23B(dist=284376),NONE(dist=NONE) chrY 10033947 10033947 G A het . 4 +intergenic TTTY23B(dist=284379),NONE(dist=NONE) chrY 10033950 10033950 A - het . 4 +intergenic TTTY23B(dist=284383),NONE(dist=NONE) chrY 10033954 10033954 A C het . 4 +intergenic TTTY23B(dist=284399),NONE(dist=NONE) chrY 10033970 10033970 G A het . 4 +intergenic TTTY23B(dist=284428),NONE(dist=NONE) chrY 10033999 10033999 G A het . 4 +intergenic TTTY23B(dist=288254),NONE(dist=NONE) chrY 10037825 10037825 T C het . 2 +intergenic TTTY23B(dist=288272),NONE(dist=NONE) chrY 10037843 10037843 C T het . 4 +intergenic TTTY23B(dist=288274),NONE(dist=NONE) chrY 10037845 10037845 C G het . 4 +intergenic TTTY23B(dist=288304),NONE(dist=NONE) chrY 10037875 10037875 C T het . 4 +intergenic TTTY23B(dist=289303),NONE(dist=NONE) chrY 10038874 10038874 A G het . 3 +intergenic TTTY23B(dist=289327),NONE(dist=NONE) chrY 10038898 10038898 G A het . 3 +intergenic TTTY23B(dist=289333),NONE(dist=NONE) chrY 10038904 10038904 A G het . 3 +intergenic TTTY23B(dist=291753),NONE(dist=NONE) chrY 10041324 10041324 T G het . 2 +intergenic TTTY23B(dist=293114),NONE(dist=NONE) chrY 10042685 10042685 T G het . 2 +intergenic TTTY23B(dist=293457),NONE(dist=NONE) chrY 10043028 10043028 T A het . 2 +intergenic TTTY23B(dist=293459),NONE(dist=NONE) chrY 10043030 10043030 C A het . 2 +intergenic TTTY23B(dist=299263),NONE(dist=NONE) chrY 10048834 10048834 T G het . 2 +intergenic TTTY23B(dist=299813),NONE(dist=NONE) chrY 10049384 10049384 C T het . 2 +intergenic TTTY23B(dist=299840),NONE(dist=NONE) chrY 10049411 10049411 G C het . 3 +intergenic TTTY23B(dist=300421),NONE(dist=NONE) chrY 10049992 10049992 T C het . 1 +intergenic TTTY23B(dist=311716),NONE(dist=NONE) chrY 10061287 10061288 TG - het . 1 +intergenic TTTY23B(dist=321622),NONE(dist=NONE) chrY 10071193 10071193 C A het . 2 +intergenic TTTY23B(dist=323650),NONE(dist=NONE) chrY 10073221 10073221 G A het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1276256) chrY 13241659 13241659 T C het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1263039) chrY 13254876 13254876 C T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1254852) chrY 13263063 13263063 G - het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1254848) chrY 13263067 13263067 A - het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1254824) chrY 13263091 13263091 G A het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1251416) chrY 13266499 13266499 A G het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1249338) chrY 13268577 13268577 G T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1249322) chrY 13268593 13268593 G T het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1249296) chrY 13268618 13268619 GT AC het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1247925) chrY 13269990 13269990 T C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1247914) chrY 13270001 13270001 C G het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1118044) chrY 13399871 13399871 G C het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1089826) chrY 13428089 13428089 C T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1089777) chrY 13428138 13428138 C T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1071995) chrY 13445920 13445920 C A het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1068486) chrY 13449429 13449429 A G het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1068423) chrY 13449492 13449492 G T het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1068401) chrY 13449514 13449514 C T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1068364) chrY 13449551 13449551 C T het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1067273) chrY 13450642 13450642 T C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1067268) chrY 13450647 13450647 A G het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1067169) chrY 13450746 13450746 T C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1055340) chrY 13462575 13462575 T C het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1055318) chrY 13462597 13462597 T G het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1055312) chrY 13462603 13462603 C G het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1055297) chrY 13462618 13462618 A G het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1055023) chrY 13462892 13462892 - T het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1055012) chrY 13462903 13462903 C T het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1055005) chrY 13462910 13462910 G A het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1054999) chrY 13462916 13462916 T G het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054992) chrY 13462923 13462923 T C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054988) chrY 13462927 13462927 C G het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054986) chrY 13462929 13462929 A T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054978) chrY 13462937 13462937 G C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054879) chrY 13463036 13463036 G T het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1054874) chrY 13463041 13463041 C T het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1054869) chrY 13463045 13463046 AT TC het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1054867) chrY 13463048 13463048 T G het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1054843) chrY 13463072 13463072 C A het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1054841) chrY 13463074 13463074 G A het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1054811) chrY 13463104 13463104 A G het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054759) chrY 13463156 13463156 A G het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054755) chrY 13463160 13463160 C A het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054749) chrY 13463166 13463166 G A het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054744) chrY 13463171 13463171 C A het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054731) chrY 13463183 13463184 TA - het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054730) chrY 13463185 13463185 - GT het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054728) chrY 13463187 13463187 C T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054695) chrY 13463220 13463220 C A het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1054688) chrY 13463226 13463227 TC GT het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1054684) chrY 13463231 13463231 A T het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1054658) chrY 13463256 13463257 CA TT het . 7 +intergenic NONE(dist=NONE),GYG2P1(dist=1054648) chrY 13463266 13463267 CA TG het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1054648) chrY 13463267 13463267 A G het . 4 +intergenic NONE(dist=NONE),GYG2P1(dist=1054632) chrY 13463283 13463283 C T het . 5 +intergenic NONE(dist=NONE),GYG2P1(dist=1054617) chrY 13463298 13463298 T C het . 5 +intergenic NONE(dist=NONE),GYG2P1(dist=1054611) chrY 13463304 13463304 G T het . 5 +intergenic NONE(dist=NONE),GYG2P1(dist=1054091) chrY 13463824 13463824 G A het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054084) chrY 13463831 13463831 T A het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1054075) chrY 13463840 13463840 T C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1053995) chrY 13463920 13463920 A C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1047395) chrY 13470520 13470520 T C het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1047356) chrY 13470559 13470559 A T het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1047342) chrY 13470573 13470573 A T het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1047336) chrY 13470579 13470579 C T het . 5 +intergenic NONE(dist=NONE),GYG2P1(dist=1047215) chrY 13470700 13470700 A G het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1047198) chrY 13470717 13470717 A T het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1047110) chrY 13470805 13470805 G A het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1047060) chrY 13470855 13470855 T A het . 7 +intergenic NONE(dist=NONE),GYG2P1(dist=1047055) chrY 13470860 13470860 A T het . 7 +intergenic NONE(dist=NONE),GYG2P1(dist=1047052) chrY 13470863 13470863 T C het . 8 +intergenic NONE(dist=NONE),GYG2P1(dist=1047046) chrY 13470869 13470869 G A het . 9 +intergenic NONE(dist=NONE),GYG2P1(dist=1047032) chrY 13470883 13470883 G A het . 7 +intergenic NONE(dist=NONE),GYG2P1(dist=1047026) chrY 13470889 13470889 G A het . 7 +intergenic NONE(dist=NONE),GYG2P1(dist=1046287) chrY 13471628 13471628 G A het . 5 +intergenic NONE(dist=NONE),GYG2P1(dist=1046281) chrY 13471634 13471634 A G het . 5 +intergenic NONE(dist=NONE),GYG2P1(dist=1046275) chrY 13471640 13471640 G A het . 5 +intergenic NONE(dist=NONE),GYG2P1(dist=1046258) chrY 13471657 13471657 T C het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1046254) chrY 13471661 13471661 G A het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1040702) chrY 13477213 13477213 T C het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1040684) chrY 13477230 13477231 TG CA het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1040668) chrY 13477247 13477247 C A het . 4 +intergenic NONE(dist=NONE),GYG2P1(dist=1040666) chrY 13477249 13477249 A C het . 4 +intergenic NONE(dist=NONE),GYG2P1(dist=1040644) chrY 13477271 13477271 C T het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1040635) chrY 13477280 13477280 G T het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1040630) chrY 13477285 13477285 C G het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1040627) chrY 13477288 13477288 G T het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1039836) chrY 13478079 13478079 A G het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1039823) chrY 13478092 13478092 G A het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1039800) chrY 13478115 13478115 A G het . 4 +intergenic NONE(dist=NONE),GYG2P1(dist=1039496) chrY 13478419 13478419 G T het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1039488) chrY 13478427 13478427 G T het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1039455) chrY 13478460 13478460 C G het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1039448) chrY 13478467 13478467 A G het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1039438) chrY 13478477 13478477 A T het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1039435) chrY 13478480 13478480 A G het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1039432) chrY 13478483 13478483 T C het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1039427) chrY 13478488 13478488 C A het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1039391) chrY 13478524 13478524 C T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1039371) chrY 13478544 13478544 G T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1039360) chrY 13478555 13478555 G A het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1039355) chrY 13478560 13478560 G C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1039334) chrY 13478581 13478581 G C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1039332) chrY 13478583 13478583 T G het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1030057) chrY 13487858 13487858 T A het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1030055) chrY 13487860 13487860 G A het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=1029545) chrY 13488370 13488370 G A het . 8 +intergenic NONE(dist=NONE),GYG2P1(dist=1029520) chrY 13488395 13488395 A G het . 9 +intergenic NONE(dist=NONE),GYG2P1(dist=1029505) chrY 13488410 13488410 A T het . 8 +intergenic NONE(dist=NONE),GYG2P1(dist=1029266) chrY 13488649 13488649 G A het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1029232) chrY 13488683 13488683 G A het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1029222) chrY 13488693 13488693 C A het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1029100) chrY 13488815 13488815 C G het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1029093) chrY 13488822 13488822 G C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1028683) chrY 13489232 13489232 C T het . 4 +intergenic NONE(dist=NONE),GYG2P1(dist=1028681) chrY 13489234 13489234 T A het . 4 +intergenic NONE(dist=NONE),GYG2P1(dist=1028665) chrY 13489250 13489250 A G het . 7 +intergenic NONE(dist=NONE),GYG2P1(dist=1028660) chrY 13489254 13489255 GA - het . 7 +intergenic NONE(dist=NONE),GYG2P1(dist=1028659) chrY 13489256 13489256 - GT het . 7 +intergenic NONE(dist=NONE),GYG2P1(dist=1028653) chrY 13489262 13489262 T C het . 7 +intergenic NONE(dist=NONE),GYG2P1(dist=1028648) chrY 13489267 13489267 G A het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1028639) chrY 13489276 13489276 G T het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1028636) chrY 13489278 13489279 TG CA het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1028634) chrY 13489281 13489281 G A het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=1028615) chrY 13489300 13489300 A G het . 4 +intergenic NONE(dist=NONE),GYG2P1(dist=1028608) chrY 13489307 13489307 C A het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=1028473) chrY 13489442 13489442 C G het . 5 +intergenic NONE(dist=NONE),GYG2P1(dist=1028468) chrY 13489447 13489447 G T het . 5 +intergenic NONE(dist=NONE),GYG2P1(dist=1028438) chrY 13489477 13489477 G T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1028429) chrY 13489486 13489486 G C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=1016059) chrY 13501856 13501856 T C het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=984429) chrY 13533485 13533486 CA TG het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=984411) chrY 13533504 13533504 T A het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=984194) chrY 13533721 13533721 A G het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=984188) chrY 13533727 13533727 A C het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=980637) chrY 13537278 13537278 G A het . 6 +intergenic NONE(dist=NONE),GYG2P1(dist=972706) chrY 13545209 13545209 A G het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=944916) chrY 13572999 13572999 A G het . 5 +intergenic NONE(dist=NONE),GYG2P1(dist=865986) chrY 13651929 13651929 A T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=865972) chrY 13651943 13651943 G T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=858595) chrY 13659320 13659320 T C het . 3 +intergenic NONE(dist=NONE),GYG2P1(dist=707298) chrY 13810617 13810617 A G het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=656001) chrY 13861914 13861914 C T het . 2 +intergenic NONE(dist=NONE),GYG2P1(dist=654821) chrY 13863094 13863094 T G het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=654784) chrY 13863131 13863131 A T het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=654767) chrY 13863148 13863148 T C het . 1 +intergenic NONE(dist=NONE),GYG2P1(dist=651320) chrY 13866595 13866595 A G het . 1 +ncRNA_intronic TTTY14 chrY 21154323 21154323 G A het . 14 +exonic CD24 chrY 21154426 21154426 G A het . 24 +exonic CD24 chrY 21154466 21154466 T A het . 18 +exonic CD24 chrY 21154569 21154569 A G het . 2 +ncRNA_intronic TTTY14 chrY 21154603 21154603 A C het . 6 +intergenic TTTY3(dist=708214),NONE(dist=NONE) chrY 28587749 28587749 G T het . 1 +intergenic TTTY3(dist=708283),NONE(dist=NONE) chrY 28587818 28587818 T C het . 2 +intergenic TTTY3(dist=708285),NONE(dist=NONE) chrY 28587820 28587820 T C het . 2 +intergenic TTTY3(dist=708292),NONE(dist=NONE) chrY 28587827 28587827 C T het . 1 +intergenic TTTY3(dist=708295),NONE(dist=NONE) chrY 28587830 28587830 T A het . 1 +intergenic TTTY3(dist=901232),NONE(dist=NONE) chrY 28780767 28780767 A C het . 2 +intergenic TTTY3(dist=901288),NONE(dist=NONE) chrY 28780823 28780823 T A het . 5 +intergenic NONE(dist=NONE),SPRY3(dist=131814) chrY 58968589 58968589 C A het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=131464) chrY 58968939 58968939 G A het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=125438) chrY 58974965 58974965 G C het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=125101) chrY 58975302 58975302 T A het . 1 +intergenic NONE(dist=NONE),SPRY3(dist=125097) chrY 58975306 58975306 G A het . 1 +intergenic NONE(dist=NONE),SPRY3(dist=125091) chrY 58975312 58975312 A G het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=125082) chrY 58975317 58975321 ATTCT - het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=124566) chrY 58975837 58975837 C A het . 1 +intergenic NONE(dist=NONE),SPRY3(dist=124554) chrY 58975849 58975849 A T het . 1 +intergenic NONE(dist=NONE),SPRY3(dist=124544) chrY 58975858 58975859 CA TT het . 1 +intergenic NONE(dist=NONE),SPRY3(dist=123316) chrY 58977087 58977087 G A het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=123292) chrY 58977110 58977111 AA GT het . 1 +intergenic NONE(dist=NONE),SPRY3(dist=122615) chrY 58977788 58977788 G C het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=122575) chrY 58977828 58977828 G C het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=122379) chrY 58978024 58978024 G A het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=122376) chrY 58978027 58978027 T - het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=122372) chrY 58978031 58978031 A T het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=122352) chrY 58978051 58978051 A C het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=122102) chrY 58978301 58978301 G A het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=121970) chrY 58978433 58978433 A T het . 1 +intergenic NONE(dist=NONE),SPRY3(dist=121871) chrY 58978532 58978532 C T het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=121854) chrY 58978549 58978549 A G het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=120232) chrY 58980171 58980171 T C het . 5 +intergenic NONE(dist=NONE),SPRY3(dist=120205) chrY 58980198 58980198 C G het . 5 +intergenic NONE(dist=NONE),SPRY3(dist=119979) chrY 58980424 58980424 C T het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=119967) chrY 58980436 58980436 A T het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=119954) chrY 58980449 58980449 C T het . 4 +intergenic NONE(dist=NONE),SPRY3(dist=119917) chrY 58980486 58980486 A G het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=119914) chrY 58980489 58980489 A G het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=98931) chrY 59001472 59001472 G A het . 25 +intergenic NONE(dist=NONE),SPRY3(dist=98890) chrY 59001513 59001513 G A het . 11 +intergenic NONE(dist=NONE),SPRY3(dist=98448) chrY 59001955 59001955 C A het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=97500) chrY 59002903 59002903 A G het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=97489) chrY 59002912 59002914 AAA - het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=97486) chrY 59002917 59002917 C T het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=96708) chrY 59003695 59003695 G T het . 1 +intergenic NONE(dist=NONE),SPRY3(dist=96257) chrY 59004146 59004146 G C het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=96211) chrY 59004192 59004192 G T het . 6 +intergenic NONE(dist=NONE),SPRY3(dist=96185) chrY 59004218 59004218 T C het . 4 +intergenic NONE(dist=NONE),SPRY3(dist=94774) chrY 59005629 59005629 C G het . 4 +intergenic NONE(dist=NONE),SPRY3(dist=94757) chrY 59005646 59005646 G A het . 4 +intergenic NONE(dist=NONE),SPRY3(dist=94753) chrY 59005650 59005650 C T het . 4 +intergenic NONE(dist=NONE),SPRY3(dist=93778) chrY 59006625 59006625 G A het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=93260) chrY 59007143 59007143 C A het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=92761) chrY 59007642 59007642 G A het . 1 +intergenic NONE(dist=NONE),SPRY3(dist=92524) chrY 59007879 59007879 G T het . 5 +intergenic NONE(dist=NONE),SPRY3(dist=92516) chrY 59007887 59007887 G T het . 6 +intergenic NONE(dist=NONE),SPRY3(dist=92452) chrY 59007951 59007951 C T het . 5 +intergenic NONE(dist=NONE),SPRY3(dist=91634) chrY 59008769 59008769 T - het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=91621) chrY 59008782 59008782 T G het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=91093) chrY 59009310 59009310 G T het . 4 +intergenic NONE(dist=NONE),SPRY3(dist=86416) chrY 59013986 59013987 TC CT het . 5 +intergenic NONE(dist=NONE),SPRY3(dist=84412) chrY 59015991 59015991 T C het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=84009) chrY 59016394 59016394 C G het . 4 +intergenic NONE(dist=NONE),SPRY3(dist=83153) chrY 59017250 59017250 C T het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=80104) chrY 59020299 59020299 G C het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=77933) chrY 59022470 59022470 G A het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=77115) chrY 59023288 59023288 A C het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=76675) chrY 59023728 59023728 T G het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=76486) chrY 59023917 59023917 T C het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=76445) chrY 59023958 59023958 G A het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=73890) chrY 59026513 59026513 A G het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=73773) chrY 59026630 59026630 T G het . 2 +intergenic NONE(dist=NONE),SPRY3(dist=73434) chrY 59026969 59026969 T A het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=72703) chrY 59027700 59027700 A C het . 3 +intergenic NONE(dist=NONE),SPRY3(dist=68228) chrY 59032175 59032175 T C het . 3 +intergenic NONE(dist=NONE),HYDIN2(dist=10592) chr1_gl000192_random 121977 121977 G A het . 5 +intergenic NONE(dist=NONE),LINC01667(dist=46314) chr4_gl000193_random 2849 2849 G A het . 4 +intergenic NONE(dist=NONE),LINC01667(dist=45097) chr4_gl000193_random 4066 4066 C A het . 3 +intergenic NONE(dist=NONE),LINC01667(dist=9434) chr4_gl000193_random 39729 39729 G A het . 3 +intergenic NONE(dist=NONE),LINC01667(dist=6757) chr4_gl000193_random 42406 42406 A G het . 3 +downstream LINC01667(dist=958) chr4_gl000193_random 48205 48205 G T het . 2 +ncRNA_intronic LINC01667 chr4_gl000193_random 77879 77879 C T het . 17 +ncRNA_intronic LINC01667 chr4_gl000193_random 78057 78057 C G het . 16 +ncRNA_intronic LINC01667 chr4_gl000193_random 78155 78155 C A het . 8 +ncRNA_intronic LINC01667 chr4_gl000193_random 86459 86459 C T het . 17 +ncRNA_intronic LINC01667 chr4_gl000193_random 86460 86460 G C het . 17 +ncRNA_intronic LINC01667 chr4_gl000193_random 86510 86510 T A het . 31 +ncRNA_intronic LINC01667 chr4_gl000193_random 86517 86517 A G het . 29 +ncRNA_intronic LINC01667 chr4_gl000193_random 86530 86530 T A het . 24 +ncRNA_intronic LINC01667 chr4_gl000193_random 86531 86531 G T het . 23 +ncRNA_intronic LINC01667 chr4_gl000193_random 86552 86552 T C het . 11 +ncRNA_intronic LINC01667 chr4_gl000193_random 86744 86744 G C het . 8 +ncRNA_intronic LINC01667 chr4_gl000193_random 87020 87020 C A het . 10 +ncRNA_intronic LINC01667 chr4_gl000193_random 88078 88078 C G het . 5 +upstream LINC01667(dist=317) chr4_gl000193_random 88692 88692 C G het . 3 +intergenic LINC01667(dist=2645),NONE(dist=NONE) chr4_gl000193_random 91020 91020 A C het . 7 +intergenic LINC01667(dist=2649),NONE(dist=NONE) chr4_gl000193_random 91024 91024 A C het . 7 +intergenic LINC01667(dist=18192),NONE(dist=NONE) chr4_gl000193_random 106567 106567 A G het . 26 +intergenic LINC01667(dist=18271),NONE(dist=NONE) chr4_gl000193_random 106646 106646 C T het . 6 +intergenic LINC01667(dist=48936),NONE(dist=NONE) chr4_gl000193_random 137311 137311 T A het . 2 +intergenic LINC01667(dist=50095),NONE(dist=NONE) chr4_gl000193_random 138470 138470 A G het . 4 +intergenic LINC01667(dist=63623),NONE(dist=NONE) chr4_gl000193_random 151998 151998 A G het . 3 +intergenic NONE(dist=NONE),MAFIP(dist=42434) chr4_gl000194_random 11155 11155 T A het . 10 +intergenic NONE(dist=NONE),MAFIP(dist=41607) chr4_gl000194_random 11982 11982 G C het . 2 +intergenic NONE(dist=NONE),MAFIP(dist=41593) chr4_gl000194_random 11996 11996 A G het . 2 +ncRNA_exonic MAFIP chr4_gl000194_random 58531 58531 T G het . 21 +ncRNA_exonic MAFIP chr4_gl000194_random 58540 58540 G T het . 18 +ncRNA_intronic MAFIP chr4_gl000194_random 73666 73666 T G het . 3 +intergenic MAFIP(dist=4227),NONE(dist=NONE) chr4_gl000194_random 119300 119300 G T het . 2 +intergenic MAFIP(dist=69634),NONE(dist=NONE) chr4_gl000194_random 184707 184707 G T het . 2 +intergenic MAFIP(dist=70555),NONE(dist=NONE) chr4_gl000194_random 185628 185628 C G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr6_cox_hap2 3662328 3662328 - AGC het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr6_mcf_hap5 2704407 2704407 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr6_ssto_hap7 3899467 3899467 G A het . 9 +intergenic NONE(dist=NONE),LOC102724951(dist=42816) chr7_gl000195_random 122 122 A T het . 22 +intergenic NONE(dist=NONE),LOC102724951(dist=42792) chr7_gl000195_random 146 146 G C het . 23 +intergenic NONE(dist=NONE),LOC102724951(dist=42771) chr7_gl000195_random 167 167 G T het . 23 +intergenic NONE(dist=NONE),LOC102724951(dist=42748) chr7_gl000195_random 190 190 G A het . 23 +intergenic NONE(dist=NONE),LOC102724951(dist=42739) chr7_gl000195_random 199 199 G C het . 22 +intergenic NONE(dist=NONE),LOC102724951(dist=42737) chr7_gl000195_random 201 201 C G het . 21 +intergenic NONE(dist=NONE),LOC102724951(dist=42734) chr7_gl000195_random 204 204 C T het . 21 +intergenic NONE(dist=NONE),LOC102724951(dist=42730) chr7_gl000195_random 208 208 C A het . 23 +intergenic NONE(dist=NONE),LOC102724951(dist=42728) chr7_gl000195_random 210 210 T C het . 23 +intergenic NONE(dist=NONE),LOC102724951(dist=42715) chr7_gl000195_random 223 223 T C het . 22 +intergenic NONE(dist=NONE),LOC102724951(dist=42569) chr7_gl000195_random 369 369 T C het . 31 +intergenic NONE(dist=NONE),LOC102724951(dist=42522) chr7_gl000195_random 416 416 A G het . 38 +intergenic NONE(dist=NONE),LOC102724951(dist=42506) chr7_gl000195_random 432 432 C A het . 37 +intergenic NONE(dist=NONE),LOC102724951(dist=42475) chr7_gl000195_random 463 463 C T het . 31 +intergenic NONE(dist=NONE),LOC102724951(dist=42447) chr7_gl000195_random 491 491 G A het . 21 +intergenic NONE(dist=NONE),LOC102724951(dist=42405) chr7_gl000195_random 533 533 C T het . 27 +intergenic NONE(dist=NONE),LOC102724951(dist=42400) chr7_gl000195_random 538 538 C G het . 27 +intergenic NONE(dist=NONE),LOC102724951(dist=42345) chr7_gl000195_random 593 593 C T het . 26 +intergenic NONE(dist=NONE),LOC102724951(dist=42312) chr7_gl000195_random 626 626 T C het . 15 +intergenic NONE(dist=NONE),LOC102724951(dist=42252) chr7_gl000195_random 686 686 T C het . 6 +intergenic NONE(dist=NONE),LOC102724951(dist=42234) chr7_gl000195_random 704 704 G A het . 6 +intergenic NONE(dist=NONE),LOC102724951(dist=42211) chr7_gl000195_random 727 727 G A het . 8 +intergenic NONE(dist=NONE),LOC102724951(dist=42021) chr7_gl000195_random 917 917 - CCAGAT het . 9 +intergenic NONE(dist=NONE),LOC102724951(dist=41995) chr7_gl000195_random 943 943 G A het . 17 +intergenic NONE(dist=NONE),LOC102724951(dist=41941) chr7_gl000195_random 997 997 C A het . 18 +intergenic NONE(dist=NONE),LOC102724951(dist=41858) chr7_gl000195_random 1080 1080 C G het . 16 +intergenic NONE(dist=NONE),LOC102724951(dist=41839) chr7_gl000195_random 1099 1099 G T het . 16 +intergenic NONE(dist=NONE),LOC102724951(dist=41504) chr7_gl000195_random 1434 1434 G T het . 4 +intergenic NONE(dist=NONE),LOC102724951(dist=41389) chr7_gl000195_random 1549 1549 C T het . 4 +intergenic NONE(dist=NONE),LOC102724951(dist=41305) chr7_gl000195_random 1633 1633 A G het . 4 +intergenic NONE(dist=NONE),LOC102724951(dist=40010) chr7_gl000195_random 2928 2928 C T het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=39921) chr7_gl000195_random 3017 3017 G C het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=39616) chr7_gl000195_random 3322 3322 T C het . 5 +intergenic NONE(dist=NONE),LOC102724951(dist=39229) chr7_gl000195_random 3709 3709 C T het . 1 +intergenic NONE(dist=NONE),LOC102724951(dist=39213) chr7_gl000195_random 3725 3725 T C het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=38609) chr7_gl000195_random 4329 4329 G A het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=38347) chr7_gl000195_random 4591 4591 T C het . 1 +intergenic NONE(dist=NONE),LOC102724951(dist=38083) chr7_gl000195_random 4855 4855 A C het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=38073) chr7_gl000195_random 4865 4865 G T het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=37953) chr7_gl000195_random 4985 4985 C G het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=37931) chr7_gl000195_random 5007 5007 T G het . 4 +intergenic NONE(dist=NONE),LOC102724951(dist=35633) chr7_gl000195_random 7305 7305 A G het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=35228) chr7_gl000195_random 7710 7710 T C het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=35085) chr7_gl000195_random 7853 7853 A G het . 4 +intergenic NONE(dist=NONE),LOC102724951(dist=35046) chr7_gl000195_random 7892 7892 C T het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=33738) chr7_gl000195_random 9200 9200 C T het . 4 +intergenic NONE(dist=NONE),LOC102724951(dist=33551) chr7_gl000195_random 9387 9387 T C het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=33548) chr7_gl000195_random 9390 9390 A G het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=33454) chr7_gl000195_random 9484 9484 A G het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=32777) chr7_gl000195_random 10161 10161 C T het . 4 +intergenic NONE(dist=NONE),LOC102724951(dist=32671) chr7_gl000195_random 10267 10267 T C het . 5 +intergenic NONE(dist=NONE),LOC102724951(dist=32605) chr7_gl000195_random 10332 10333 CC TG het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=32521) chr7_gl000195_random 10417 10417 C T het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=30888) chr7_gl000195_random 12050 12050 A G het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=30864) chr7_gl000195_random 12074 12074 C G het . 1 +intergenic NONE(dist=NONE),LOC102724951(dist=30394) chr7_gl000195_random 12544 12544 G A het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=27992) chr7_gl000195_random 14946 14946 G A het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=26959) chr7_gl000195_random 15979 15979 A G het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=20495) chr7_gl000195_random 22443 22443 A G het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=15993) chr7_gl000195_random 26945 26945 A C het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=15659) chr7_gl000195_random 27279 27279 T C het . 1 +intergenic NONE(dist=NONE),LOC102724951(dist=15538) chr7_gl000195_random 27400 27400 T C het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=12748) chr7_gl000195_random 30190 30190 T C het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=12298) chr7_gl000195_random 30640 30640 T C het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=12223) chr7_gl000195_random 30715 30715 A G het . 1 +intergenic NONE(dist=NONE),LOC102724951(dist=12208) chr7_gl000195_random 30730 30730 A C het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=9694) chr7_gl000195_random 33244 33244 T C het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=9649) chr7_gl000195_random 33289 33289 T C het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=6640) chr7_gl000195_random 36298 36298 T C het . 6 +intergenic NONE(dist=NONE),LOC102724951(dist=6522) chr7_gl000195_random 36416 36416 C T het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=5904) chr7_gl000195_random 37034 37034 - A het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=5343) chr7_gl000195_random 37595 37595 T G het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=5127) chr7_gl000195_random 37811 37811 T A het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=4733) chr7_gl000195_random 38205 38205 T C het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=4726) chr7_gl000195_random 38212 38212 G T het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=4617) chr7_gl000195_random 38321 38321 C T het . 5 +intergenic NONE(dist=NONE),LOC102724951(dist=4293) chr7_gl000195_random 38645 38645 T G het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=4186) chr7_gl000195_random 38752 38752 T C het . 1 +intergenic NONE(dist=NONE),LOC102724951(dist=3973) chr7_gl000195_random 38965 38965 T - het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=3614) chr7_gl000195_random 39324 39324 G C het . 3 +intergenic NONE(dist=NONE),LOC102724951(dist=3592) chr7_gl000195_random 39346 39346 G A het . 4 +intergenic NONE(dist=NONE),LOC102724951(dist=2239) chr7_gl000195_random 40699 40699 A T het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=1394) chr7_gl000195_random 41544 41544 G C het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=1259) chr7_gl000195_random 41679 41679 A T het . 2 +intergenic NONE(dist=NONE),LOC102724951(dist=1249) chr7_gl000195_random 41689 41689 G T het . 1 +downstream LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831(dist=868) chr7_gl000195_random 42070 42070 C T het . 2 +downstream LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831(dist=866) chr7_gl000195_random 42072 42072 - A het . 2 +downstream LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831(dist=843) chr7_gl000195_random 42095 42095 C T het . 2 +downstream LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831(dist=829) chr7_gl000195_random 42109 42109 C T het . 1 +downstream LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831(dist=826) chr7_gl000195_random 42112 42112 T A het . 1 +UTR3 LOC102723360(NM_001322975:c.*1728C>T),LOC102724219(NM_001322044:c.*1728C>T),LOC102724843(NM_001322047:c.*1728C>T),LOC102724951(NM_001322036:c.*1728C>T),LOC389831(NM_001242480:c.*1728C>T,NM_001347681:c.*1728C>T,NM_001347680:c.*3780C>T,NM_001347682:c.*3780C>T) chr7_gl000195_random 42996 42996 G A het . 2 +UTR3 LOC102723360(NM_001322975:c.*1533G>T),LOC102724219(NM_001322044:c.*1533G>T),LOC102724843(NM_001322047:c.*1533G>T),LOC102724951(NM_001322036:c.*1533G>T),LOC389831(NM_001242480:c.*1533G>T,NM_001347681:c.*1533G>T,NM_001347680:c.*3585G>T,NM_001347682:c.*3585G>T) chr7_gl000195_random 43191 43191 C A het . 3 +UTR3 LOC102723360(NM_001322975:c.*952T>C),LOC102724219(NM_001322044:c.*952T>C),LOC102724843(NM_001322047:c.*952T>C),LOC102724951(NM_001322036:c.*952T>C),LOC389831(NM_001242480:c.*952T>C,NM_001347681:c.*952T>C,NM_001347680:c.*3004T>C,NM_001347682:c.*3004T>C) chr7_gl000195_random 43772 43772 A G het . 2 +UTR3 LOC102723360(NM_001322975:c.*621G>T),LOC102724219(NM_001322044:c.*621G>T),LOC102724843(NM_001322047:c.*621G>T),LOC102724951(NM_001322036:c.*621G>T),LOC389831(NM_001242480:c.*621G>T,NM_001347681:c.*621G>T,NM_001347680:c.*2673G>T,NM_001347682:c.*2673G>T) chr7_gl000195_random 44103 44103 C A het . 3 +UTR3 LOC389831(NM_001347680:c.*1729A>C,NM_001347682:c.*1729A>C) chr7_gl000195_random 45047 45047 T G het . 2 +UTR3 LOC389831(NM_001347680:c.*1058G>A,NM_001347682:c.*1058G>A) chr7_gl000195_random 45718 45718 C T het . 1 +UTR3 LOC389831(NM_001347680:c.*750T>A,NM_001347682:c.*750T>A) chr7_gl000195_random 46026 46026 A T het . 4 +UTR3 LOC389831(NM_001347680:c.*642A>T,NM_001347682:c.*642A>T) chr7_gl000195_random 46134 46134 T A het . 2 +UTR3 LOC389831(NM_001347680:c.*610G>T,NM_001347682:c.*610G>T) chr7_gl000195_random 46166 46166 C A het . 4 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 47746 47746 A G het . 1 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 47753 47754 CA AG het . 1 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 47829 47829 T G het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 48260 48260 C G het . 2 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 48685 48685 G A het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 48714 48714 C A het . 4 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 48736 48736 C A het . 4 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 48801 48801 T G het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 49725 49725 A C het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 50046 50046 A T het . 6 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 50051 50051 T C het . 5 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 50104 50104 C T het . 2 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 50265 50265 G C het . 4 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 50341 50341 C T het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 50400 50400 T G het . 4 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 52579 52579 - C het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 53836 53836 T C het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 53840 53840 C T het . 4 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 53873 53873 A T het . 4 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 53898 53898 A T het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 53902 53906 AAAGA - het . 4 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 53917 53917 T A het . 5 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 54023 54023 G T het . 10 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 54035 54038 GAAA - het . 6 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 54179 54179 A T het . 8 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 56885 56885 G A het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 56938 56938 C A het . 4 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 57284 57284 G T het . 1 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 60027 60027 A G het . 4 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 61642 61642 A G het . 2 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 62275 62275 A G het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 63661 63661 T A het . 2 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 64859 64859 A G het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 64877 64877 A T het . 3 +intronic LOC102723360,LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 65495 65495 T C het . 3 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 66201 66201 A T het . 3 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 66996 66996 A G het . 2 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 67283 67283 A G het . 2 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 67329 67329 C T het . 3 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 69274 69274 A C het . 4 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 69605 69605 G A het . 3 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 69797 69797 A T het . 3 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 71998 71998 G A het . 6 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 72261 72261 A T het . 3 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 72396 72396 C G het . 4 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 74836 74836 G A het . 2 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 75039 75039 G A het . 6 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 75078 75078 A G het . 5 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 75080 75080 G T het . 5 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 76648 76648 C A het . 2 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 77068 77068 A C het . 3 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 77100 77100 C T het . 4 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 78386 78386 G A het . 3 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 78435 78435 A G het . 3 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 78437 78437 C G het . 3 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 78586 78586 G C het . 5 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 79299 79299 A C het . 2 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 79308 79308 T G het . 2 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 79917 79917 A C het . 11 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 79994 79994 G A het . 12 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 79997 79997 C G het . 12 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 80067 80067 C G het . 5 +intronic LOC102724219,LOC102724843,LOC102724951,LOC389831 chr7_gl000195_random 85194 85198 TGTTA - het . 4 +upstream LOC102724219,LOC102724843,LOC102724951,LOC389831(dist=779) chr7_gl000195_random 87514 87514 T C het . 3 +upstream LOC102724219,LOC102724843,LOC102724951,LOC389831(dist=787) chr7_gl000195_random 87522 87522 T C het . 4 +intergenic LOC389831(dist=3823),NONE(dist=NONE) chr7_gl000195_random 90558 90558 C T het . 2 +intergenic LOC389831(dist=3836),NONE(dist=NONE) chr7_gl000195_random 90571 90571 A T het . 3 +intergenic LOC389831(dist=5569),NONE(dist=NONE) chr7_gl000195_random 92304 92304 G C het . 2 +intergenic LOC389831(dist=5606),NONE(dist=NONE) chr7_gl000195_random 92341 92341 T C het . 2 +intergenic LOC389831(dist=5617),NONE(dist=NONE) chr7_gl000195_random 92352 92352 G A het . 2 +intergenic LOC389831(dist=6006),NONE(dist=NONE) chr7_gl000195_random 92741 92741 T A het . 3 +intergenic LOC389831(dist=7931),NONE(dist=NONE) chr7_gl000195_random 94666 94666 T C het . 2 +intergenic LOC389831(dist=8781),NONE(dist=NONE) chr7_gl000195_random 95516 95516 G T het . 2 +intergenic LOC389831(dist=9649),NONE(dist=NONE) chr7_gl000195_random 96384 96384 T C het . 2 +intergenic LOC389831(dist=11413),NONE(dist=NONE) chr7_gl000195_random 98148 98148 C G het . 4 +intergenic LOC389831(dist=15305),NONE(dist=NONE) chr7_gl000195_random 102040 102040 A G het . 3 +intergenic LOC389831(dist=16913),NONE(dist=NONE) chr7_gl000195_random 103648 103648 C T het . 2 +intergenic LOC389831(dist=23691),NONE(dist=NONE) chr7_gl000195_random 110426 110426 A G het . 2 +intergenic LOC389831(dist=25216),NONE(dist=NONE) chr7_gl000195_random 111951 111951 A C het . 2 +intergenic LOC389831(dist=47911),NONE(dist=NONE) chr7_gl000195_random 134646 134646 T G het . 2 +intergenic LOC389831(dist=51553),NONE(dist=NONE) chr7_gl000195_random 138288 138288 G A het . 2 +intergenic LOC389831(dist=56324),NONE(dist=NONE) chr7_gl000195_random 143059 143059 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 398 398 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 2106 2106 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 55780 55780 T A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 55809 55810 CA GG het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 55817 55817 - G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 57463 57463 C A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 57466 57466 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 57475 57475 C G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 57496 57496 T G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 57911 57911 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 58139 58139 A T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 58161 58161 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 58238 58238 G T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 58683 58685 CAA - het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 58712 58712 C A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 58862 58862 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 58864 58864 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 58941 58941 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 58961 58961 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 59168 59168 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 59185 59185 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 59209 59209 T G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 59224 59224 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 59231 59231 T G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 59403 59403 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 59627 59627 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 59639 59639 A C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 59652 59652 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 59814 59814 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 59963 59963 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60003 60003 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60022 60022 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60103 60103 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60121 60121 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60130 60130 C A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60162 60162 A - het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60175 60176 GT - het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60184 60184 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60373 60373 C G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60636 60636 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60655 60655 T G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60856 60856 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60863 60863 C A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 60917 60917 C G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61264 61264 C - het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61286 61286 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61301 61301 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61354 61354 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61361 61361 C A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61379 61379 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61424 61424 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61436 61436 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61459 61459 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61500 61500 A T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61524 61524 T G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61536 61536 T C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61560 61560 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61630 61630 A C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61649 61649 T A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 61952 61952 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 62392 62392 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 63144 63144 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 65581 65581 G C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 65589 65589 C G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 65613 65613 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 72035 72035 T G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 72098 72098 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 72108 72108 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 72964 72964 A G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 72970 72970 T A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 73203 73203 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 74993 74993 T A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 76720 76721 CA TC het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 76738 76738 C A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 78046 78046 G C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 78703 78703 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 79741 79741 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 79756 79756 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 79808 79808 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 81080 81080 G T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 81422 81422 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 81481 81481 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 84804 84804 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 85111 85111 T C het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 85114 85114 C T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000198_random 85468 85468 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 29625 29625 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 51334 51334 T C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 51349 51349 A C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 57168 57168 A G het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 57178 57178 A C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 57308 57308 G C het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 57326 57326 A C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 57335 57335 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 57341 57341 T G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 109439 109439 T G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 168338 168339 TA - het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 168344 168344 A G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr9_gl000199_random 168367 168367 T C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 30315 30315 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 30323 30323 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 32033 32033 A G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 32059 32059 C T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 32081 32081 G A het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 33871 33871 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 34125 34125 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 34133 34133 - CAT het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 36052 36052 T G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 36673 36673 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 37310 37310 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000203_random 37327 37327 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr17_gl000204_random 81104 81104 T C het . 4 +intergenic NONE(dist=NONE),MGC70870(dist=84212) chr17_gl000205_random 32411 32411 C A het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=78955) chr17_gl000205_random 37668 37668 T C het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=36109) chr17_gl000205_random 80514 80514 A G het . 6 +intergenic NONE(dist=NONE),MGC70870(dist=35408) chr17_gl000205_random 81215 81215 T G het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=34459) chr17_gl000205_random 82164 82164 C A het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=27707) chr17_gl000205_random 88916 88916 G C het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=26305) chr17_gl000205_random 90318 90318 G A het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=25962) chr17_gl000205_random 90661 90661 A C het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=25158) chr17_gl000205_random 91465 91465 G A het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=24729) chr17_gl000205_random 91894 91894 A C het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=23733) chr17_gl000205_random 92890 92890 G C het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=22403) chr17_gl000205_random 94220 94220 C G het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=21566) chr17_gl000205_random 95057 95057 G T het . 4 +intergenic NONE(dist=NONE),MGC70870(dist=18736) chr17_gl000205_random 97887 97887 C G het . 11 +intergenic NONE(dist=NONE),MGC70870(dist=18542) chr17_gl000205_random 98081 98081 G A het . 4 +intergenic NONE(dist=NONE),MGC70870(dist=13473) chr17_gl000205_random 103150 103150 A G het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=12742) chr17_gl000205_random 103881 103881 A C het . 1 +intergenic NONE(dist=NONE),MGC70870(dist=11432) chr17_gl000205_random 105191 105191 T C het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=11274) chr17_gl000205_random 105349 105349 T C het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=9857) chr17_gl000205_random 106766 106766 T C het . 7 +intergenic NONE(dist=NONE),MGC70870(dist=9800) chr17_gl000205_random 106823 106823 T A het . 8 +intergenic NONE(dist=NONE),MGC70870(dist=9760) chr17_gl000205_random 106863 106863 - G het . 5 +intergenic NONE(dist=NONE),MGC70870(dist=9486) chr17_gl000205_random 107137 107137 - A het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=9406) chr17_gl000205_random 107217 107217 T C het . 4 +intergenic NONE(dist=NONE),MGC70870(dist=9383) chr17_gl000205_random 107240 107240 T G het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=8811) chr17_gl000205_random 107812 107812 A G het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=8710) chr17_gl000205_random 107913 107913 A - het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=6881) chr17_gl000205_random 109742 109742 C T het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=6841) chr17_gl000205_random 109782 109782 A T het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=6831) chr17_gl000205_random 109792 109792 A C het . 1 +intergenic NONE(dist=NONE),MGC70870(dist=5943) chr17_gl000205_random 110680 110680 G C het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=5907) chr17_gl000205_random 110716 110716 - T het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=5904) chr17_gl000205_random 110719 110719 T C het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=2927) chr17_gl000205_random 113696 113696 G A het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=2349) chr17_gl000205_random 114274 114274 A G het . 3 +intergenic NONE(dist=NONE),MGC70870(dist=2231) chr17_gl000205_random 114392 114392 - C het . 2 +intergenic NONE(dist=NONE),MGC70870(dist=2066) chr17_gl000205_random 114557 114557 C T het . 4 +intergenic NONE(dist=NONE),MGC70870(dist=2052) chr17_gl000205_random 114571 114571 T C het . 6 +upstream MGC70870(dist=977) chr17_gl000205_random 115646 115646 C T het . 1 +upstream MGC70870(dist=453) chr17_gl000205_random 116170 116170 A C het . 2 +ncRNA_exonic MGC70870 chr17_gl000205_random 116661 116661 C T het . 2 +ncRNA_exonic MGC70870 chr17_gl000205_random 117012 117012 C A het . 7 +ncRNA_exonic MGC70870 chr17_gl000205_random 117157 117157 G C het . 7 +ncRNA_exonic MGC70870 chr17_gl000205_random 117169 117169 T G het . 8 +ncRNA_exonic MGC70870 chr17_gl000205_random 117217 117217 T C het . 21 +ncRNA_exonic MGC70870 chr17_gl000205_random 117234 117234 T A het . 24 +ncRNA_exonic MGC70870 chr17_gl000205_random 117244 117244 G A het . 30 +ncRNA_exonic MGC70870 chr17_gl000205_random 117245 117245 C T het . 30 +ncRNA_exonic MGC70870 chr17_gl000205_random 117249 117249 C T het . 31 +ncRNA_exonic MGC70870 chr17_gl000205_random 117447 117447 A G het . 12 +ncRNA_exonic MGC70870 chr17_gl000205_random 117491 117491 G C het . 11 +ncRNA_exonic MGC70870 chr17_gl000205_random 117546 117546 G - het . 8 +ncRNA_exonic MGC70870 chr17_gl000205_random 117561 117561 C T het . 11 +ncRNA_exonic MGC70870 chr17_gl000205_random 117670 117670 G A het . 21 +ncRNA_exonic MGC70870 chr17_gl000205_random 117705 117705 T C het . 16 +ncRNA_exonic MGC70870 chr17_gl000205_random 117769 117769 C A het . 19 +ncRNA_exonic MGC70870 chr17_gl000205_random 117887 117887 C T het . 33 +ncRNA_exonic MGC70870 chr17_gl000205_random 117916 117916 T C het . 21 +ncRNA_exonic MGC70870 chr17_gl000205_random 117959 117959 C T het . 25 +ncRNA_exonic MGC70870 chr17_gl000205_random 117982 117982 A G het . 25 +ncRNA_exonic MGC70870 chr17_gl000205_random 117996 117996 T C het . 29 +ncRNA_exonic MGC70870 chr17_gl000205_random 118048 118048 G C het . 25 +ncRNA_exonic MGC70870 chr17_gl000205_random 118065 118065 G A het . 22 +ncRNA_exonic MGC70870 chr17_gl000205_random 118173 118173 A G het . 31 +ncRNA_exonic MGC70870 chr17_gl000205_random 118187 118189 CGC - het . 32 +ncRNA_exonic MGC70870 chr17_gl000205_random 118259 118259 A G het . 32 +ncRNA_exonic MGC70870 chr17_gl000205_random 118268 118268 G C het . 32 +ncRNA_exonic MGC70870 chr17_gl000205_random 118347 118347 A G het . 19 +ncRNA_exonic MGC70870 chr17_gl000205_random 118386 118386 T C het . 16 +downstream MGC70870(dist=838) chr17_gl000205_random 120570 120570 C T het . 2 +downstream MGC70870(dist=863) chr17_gl000205_random 120595 120596 TG CA het . 4 +downstream MGC70870(dist=867) chr17_gl000205_random 120599 120599 G C het . 5 +downstream MGC70870(dist=869) chr17_gl000205_random 120601 120601 A G het . 5 +downstream MGC70870(dist=887) chr17_gl000205_random 120619 120619 A - het . 5 +downstream MGC70870(dist=933) chr17_gl000205_random 120665 120665 C A het . 2 +intergenic MGC70870(dist=1016),NONE(dist=NONE) chr17_gl000205_random 120748 120748 G A het . 2 +intergenic MGC70870(dist=1052),NONE(dist=NONE) chr17_gl000205_random 120784 120784 G T het . 3 +intergenic MGC70870(dist=1054),NONE(dist=NONE) chr17_gl000205_random 120786 120786 A G het . 3 +intergenic MGC70870(dist=1071),NONE(dist=NONE) chr17_gl000205_random 120803 120803 T C het . 2 +intergenic MGC70870(dist=1074),NONE(dist=NONE) chr17_gl000205_random 120806 120806 T C het . 2 +intergenic MGC70870(dist=1320),NONE(dist=NONE) chr17_gl000205_random 121052 121052 G A het . 4 +intergenic MGC70870(dist=1329),NONE(dist=NONE) chr17_gl000205_random 121061 121061 T C het . 4 +intergenic MGC70870(dist=1332),NONE(dist=NONE) chr17_gl000205_random 121064 121064 A C het . 4 +intergenic MGC70870(dist=1350),NONE(dist=NONE) chr17_gl000205_random 121082 121082 A G het . 3 +intergenic MGC70870(dist=1509),NONE(dist=NONE) chr17_gl000205_random 121241 121241 C A het . 5 +intergenic MGC70870(dist=1563),NONE(dist=NONE) chr17_gl000205_random 121295 121295 C T het . 2 +intergenic MGC70870(dist=1756),NONE(dist=NONE) chr17_gl000205_random 121488 121488 T C het . 5 +intergenic MGC70870(dist=1760),NONE(dist=NONE) chr17_gl000205_random 121492 121492 G A het . 5 +intergenic MGC70870(dist=1781),NONE(dist=NONE) chr17_gl000205_random 121513 121513 A T het . 5 +intergenic MGC70870(dist=1800),NONE(dist=NONE) chr17_gl000205_random 121532 121533 TT GG het . 5 +intergenic MGC70870(dist=1804),NONE(dist=NONE) chr17_gl000205_random 121536 121536 G A het . 5 +intergenic MGC70870(dist=1808),NONE(dist=NONE) chr17_gl000205_random 121540 121540 C T het . 5 +intergenic MGC70870(dist=1832),NONE(dist=NONE) chr17_gl000205_random 121564 121564 G A het . 4 +intergenic MGC70870(dist=1838),NONE(dist=NONE) chr17_gl000205_random 121570 121570 A T het . 4 +intergenic MGC70870(dist=1896),NONE(dist=NONE) chr17_gl000205_random 121628 121628 A G het . 2 +intergenic MGC70870(dist=1932),NONE(dist=NONE) chr17_gl000205_random 121664 121664 G T het . 3 +intergenic MGC70870(dist=2092),NONE(dist=NONE) chr17_gl000205_random 121824 121824 A C het . 5 +intergenic MGC70870(dist=2101),NONE(dist=NONE) chr17_gl000205_random 121833 121833 A G het . 5 +intergenic MGC70870(dist=2106),NONE(dist=NONE) chr17_gl000205_random 121838 121838 T C het . 5 +intergenic MGC70870(dist=2120),NONE(dist=NONE) chr17_gl000205_random 121852 121852 G T het . 5 +intergenic MGC70870(dist=2124),NONE(dist=NONE) chr17_gl000205_random 121856 121856 A G het . 4 +intergenic MGC70870(dist=2129),NONE(dist=NONE) chr17_gl000205_random 121861 121861 A C het . 4 +intergenic MGC70870(dist=2614),NONE(dist=NONE) chr17_gl000205_random 122346 122346 A T het . 1 +intergenic MGC70870(dist=3028),NONE(dist=NONE) chr17_gl000205_random 122760 122760 C G het . 9 +intergenic MGC70870(dist=3062),NONE(dist=NONE) chr17_gl000205_random 122794 122794 A G het . 12 +intergenic MGC70870(dist=3082),NONE(dist=NONE) chr17_gl000205_random 122814 122814 T A het . 14 +intergenic MGC70870(dist=3196),NONE(dist=NONE) chr17_gl000205_random 122928 122928 C A het . 33 +intergenic MGC70870(dist=3213),NONE(dist=NONE) chr17_gl000205_random 122945 122945 T G het . 30 +intergenic MGC70870(dist=3304),NONE(dist=NONE) chr17_gl000205_random 123036 123036 A T het . 56 +intergenic MGC70870(dist=3334),NONE(dist=NONE) chr17_gl000205_random 123066 123066 G A het . 35 +intergenic MGC70870(dist=3361),NONE(dist=NONE) chr17_gl000205_random 123093 123093 C A het . 17 +intergenic MGC70870(dist=3364),NONE(dist=NONE) chr17_gl000205_random 123096 123096 G A het . 17 +intergenic MGC70870(dist=3370),NONE(dist=NONE) chr17_gl000205_random 123102 123102 C G het . 14 +intergenic MGC70870(dist=3375),NONE(dist=NONE) chr17_gl000205_random 123107 123107 A G het . 7 +intergenic MGC70870(dist=3591),NONE(dist=NONE) chr17_gl000205_random 123323 123323 A C het . 7 +intergenic MGC70870(dist=3594),NONE(dist=NONE) chr17_gl000205_random 123326 123326 T C het . 7 +intergenic MGC70870(dist=10998),NONE(dist=NONE) chr17_gl000205_random 130730 130730 G T het . 2 +intergenic MGC70870(dist=11419),NONE(dist=NONE) chr17_gl000205_random 131151 131151 C A het . 4 +intergenic MGC70870(dist=12121),NONE(dist=NONE) chr17_gl000205_random 131853 131853 G A het . 4 +intergenic MGC70870(dist=12125),NONE(dist=NONE) chr17_gl000205_random 131857 131857 A G het . 5 +intergenic MGC70870(dist=12141),NONE(dist=NONE) chr17_gl000205_random 131873 131873 A G het . 5 +intergenic MGC70870(dist=13010),NONE(dist=NONE) chr17_gl000205_random 132742 132742 A T het . 2 +intergenic MGC70870(dist=13534),NONE(dist=NONE) chr17_gl000205_random 133266 133266 T C het . 3 +intergenic MGC70870(dist=14283),NONE(dist=NONE) chr17_gl000205_random 134015 134018 ATAC - het . 5 +intergenic MGC70870(dist=14746),NONE(dist=NONE) chr17_gl000205_random 134478 134478 T C het . 4 +intergenic MGC70870(dist=15399),NONE(dist=NONE) chr17_gl000205_random 135131 135131 T C het . 2 +intergenic MGC70870(dist=21786),NONE(dist=NONE) chr17_gl000205_random 141518 141518 T G het . 1 +intergenic MGC70870(dist=27526),NONE(dist=NONE) chr17_gl000205_random 147258 147258 C G het . 2 +intergenic MGC70870(dist=28562),NONE(dist=NONE) chr17_gl000205_random 148294 148294 A G het . 2 +intergenic MGC70870(dist=40010),NONE(dist=NONE) chr17_gl000205_random 159742 159742 G A het . 3 +intergenic MGC70870(dist=44290),NONE(dist=NONE) chr17_gl000205_random 164022 164022 G C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 77 77 T C het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 84 84 C A het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 98 98 C A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 112 112 A T het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 142 142 T - het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 143 143 T G het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 160 161 TC AA het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 199 199 C A het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 210 210 C G het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 215 215 G A het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 249 249 C A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 252 252 T C het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 326 326 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 807 807 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 835 835 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 857 857 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 993 993 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 1570 1570 A T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 1591 1591 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 2113 2113 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 2612 2612 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 2640 2641 TC GA het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 2676 2676 T A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 2683 2683 G T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 3064 3064 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 8017 8017 A T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 8264 8264 C T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 8577 8577 A T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 8848 8848 G C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 9097 9097 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 9117 9117 A T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 10538 10538 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 10964 10964 T A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 10970 10970 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 11785 11785 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 12690 12690 T G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 12983 12983 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 13645 13645 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 17182 17182 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 17529 17529 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 18491 18491 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 18525 18525 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 19363 19363 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 19493 19493 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 19898 19898 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 20494 20494 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 20548 20548 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 20832 20832 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 27864 27864 A T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 31006 31006 G T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 35545 35545 G C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 35937 35937 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 36108 36108 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 36143 36143 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 36861 36861 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 39159 39159 G C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 39194 39194 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 40119 40119 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 40140 40141 CT - het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 40774 40774 A T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 41135 41135 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 41429 41429 T G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 41506 41506 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 41606 41606 C G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 42048 42048 A T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 42277 42277 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 42300 42300 C A het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 42451 42451 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 42884 42884 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 43018 43018 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 43041 43041 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 43043 43043 G T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 43514 43514 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 43579 43579 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 44937 44937 G T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 45080 45080 A T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 45314 45314 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 45364 45364 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 45733 45733 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 46037 46037 T A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 47078 47078 T A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 47797 47797 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 47811 47811 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 53151 53151 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 53175 53175 A - het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 53991 53991 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 54003 54003 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 55165 55165 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 55272 55272 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 57139 57139 G C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 62697 62697 G C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 63121 63121 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 63546 63546 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 64506 64506 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 64519 64519 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 65067 65067 C G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 65100 65100 T C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 65103 65103 C A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 65341 65341 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 65350 65350 A G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 68393 68393 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 70527 70527 C A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 71503 71503 G T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 71590 71590 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 71620 71620 A - het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 71655 71655 - G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 71904 71904 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 72019 72019 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 72023 72023 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 72559 72559 T G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 73080 73080 C T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 73388 73388 G C het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 73597 73597 T A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 74653 74653 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 74673 74673 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chr19_gl000208_random 89778 89778 T A het . 12 +intergenic NONE(dist=NONE),FLJ43315(dist=2388) chrUn_gl000211 46115 46115 T C het . 3 +intergenic NONE(dist=NONE),FLJ43315(dist=2381) chrUn_gl000211 46122 46122 T G het . 3 +ncRNA_intronic FLJ43315 chrUn_gl000211 66244 66244 T A het . 4 +ncRNA_intronic FLJ43315 chrUn_gl000211 87267 87267 A G het . 3 +intergenic FLJ43315(dist=5612),NONE(dist=NONE) chrUn_gl000211 98777 98777 G T het . 3 +intergenic FLJ43315(dist=13600),NONE(dist=NONE) chrUn_gl000211 106765 106765 G A het . 2 +intergenic FLJ43315(dist=13622),NONE(dist=NONE) chrUn_gl000211 106787 106787 T G het . 3 +intergenic FLJ43315(dist=13884),NONE(dist=NONE) chrUn_gl000211 107049 107049 C T het . 12 +intergenic FLJ43315(dist=13887),NONE(dist=NONE) chrUn_gl000211 107052 107052 C T het . 12 +intergenic FLJ43315(dist=13980),NONE(dist=NONE) chrUn_gl000211 107145 107145 T C het . 15 +intergenic FLJ43315(dist=14055),NONE(dist=NONE) chrUn_gl000211 107220 107220 A G het . 17 +intergenic FLJ43315(dist=14156),NONE(dist=NONE) chrUn_gl000211 107321 107321 T G het . 13 +intergenic FLJ43315(dist=16557),NONE(dist=NONE) chrUn_gl000211 109722 109722 T C het . 6 +intergenic FLJ43315(dist=17455),NONE(dist=NONE) chrUn_gl000211 110620 110620 T G het . 19 +intergenic FLJ43315(dist=17466),NONE(dist=NONE) chrUn_gl000211 110631 110631 A G het . 16 +intergenic FLJ43315(dist=18241),NONE(dist=NONE) chrUn_gl000211 111406 111407 TG CA het . 17 +intergenic FLJ43315(dist=18250),NONE(dist=NONE) chrUn_gl000211 111415 111415 C T het . 15 +intergenic FLJ43315(dist=19297),NONE(dist=NONE) chrUn_gl000211 112462 112462 A T het . 9 +intergenic FLJ43315(dist=19300),NONE(dist=NONE) chrUn_gl000211 112465 112465 A C het . 10 +intergenic FLJ43315(dist=19332),NONE(dist=NONE) chrUn_gl000211 112497 112497 C G het . 18 +intergenic FLJ43315(dist=28961),NONE(dist=NONE) chrUn_gl000211 122126 122126 G T het . 5 +intergenic FLJ43315(dist=28976),NONE(dist=NONE) chrUn_gl000211 122141 122141 A G het . 6 +intergenic FLJ43315(dist=29019),NONE(dist=NONE) chrUn_gl000211 122184 122184 A G het . 18 +intergenic FLJ43315(dist=33895),NONE(dist=NONE) chrUn_gl000211 127060 127060 T A het . 15 +intergenic FLJ43315(dist=33925),NONE(dist=NONE) chrUn_gl000211 127090 127090 T C het . 10 +intergenic FLJ43315(dist=33932),NONE(dist=NONE) chrUn_gl000211 127097 127097 C A het . 9 +intergenic FLJ43315(dist=42782),NONE(dist=NONE) chrUn_gl000211 135947 135947 T G het . 9 +intergenic FLJ43315(dist=42796),NONE(dist=NONE) chrUn_gl000211 135961 135961 A G het . 9 +intergenic FLJ43315(dist=48564),NONE(dist=NONE) chrUn_gl000211 141729 141729 A G het . 6 +intergenic FLJ43315(dist=54494),NONE(dist=NONE) chrUn_gl000211 147659 147659 G A het . 10 +intergenic FLJ43315(dist=55211),NONE(dist=NONE) chrUn_gl000211 148376 148376 C T het . 2 +intergenic FLJ43315(dist=55673),NONE(dist=NONE) chrUn_gl000211 148838 148838 G T het . 21 +intergenic FLJ43315(dist=56226),NONE(dist=NONE) chrUn_gl000211 149391 149391 G A het . 23 +intergenic FLJ43315(dist=56247),NONE(dist=NONE) chrUn_gl000211 149412 149412 A G het . 13 +intergenic FLJ43315(dist=56251),NONE(dist=NONE) chrUn_gl000211 149416 149416 G C het . 12 +intergenic FLJ43315(dist=56261),NONE(dist=NONE) chrUn_gl000211 149426 149426 G C het . 12 +intergenic FLJ43315(dist=56274),NONE(dist=NONE) chrUn_gl000211 149439 149439 T C het . 9 +intergenic FLJ43315(dist=56280),NONE(dist=NONE) chrUn_gl000211 149445 149445 C T het . 8 +intergenic FLJ43315(dist=56283),NONE(dist=NONE) chrUn_gl000211 149448 149448 G A het . 8 +intergenic NONE(dist=NONE),FAM230C(dist=22097) chrUn_gl000212 1952 1952 A T het . 3 +intergenic NONE(dist=NONE),FAM230C(dist=22062) chrUn_gl000212 1987 1987 A G het . 6 +intergenic NONE(dist=NONE),FAM230C(dist=22026) chrUn_gl000212 2023 2023 T C het . 7 +intergenic NONE(dist=NONE),FAM230C(dist=21944) chrUn_gl000212 2105 2105 G A het . 10 +intergenic NONE(dist=NONE),FAM230C(dist=21763) chrUn_gl000212 2286 2286 T A het . 15 +intergenic NONE(dist=NONE),FAM230C(dist=21255) chrUn_gl000212 2794 2794 G A het . 17 +intergenic NONE(dist=NONE),FAM230C(dist=21240) chrUn_gl000212 2809 2809 C A het . 17 +intergenic NONE(dist=NONE),FAM230C(dist=21226) chrUn_gl000212 2823 2823 G A het . 20 +intergenic NONE(dist=NONE),FAM230C(dist=21088) chrUn_gl000212 2961 2961 C T het . 29 +intergenic NONE(dist=NONE),FAM230C(dist=21063) chrUn_gl000212 2985 2986 TG - het . 24 +intergenic NONE(dist=NONE),FAM230C(dist=21039) chrUn_gl000212 3008 3010 TTG - het . 17 +intergenic NONE(dist=NONE),FAM230C(dist=20824) chrUn_gl000212 3225 3225 A T het . 11 +intergenic NONE(dist=NONE),FAM230C(dist=20770) chrUn_gl000212 3279 3279 - A het . 40 +intergenic NONE(dist=NONE),FAM230C(dist=20740) chrUn_gl000212 3309 3309 A T het . 24 +intergenic NONE(dist=NONE),FAM230C(dist=20701) chrUn_gl000212 3348 3348 A - het . 14 +intergenic NONE(dist=NONE),FAM230C(dist=20592) chrUn_gl000212 3457 3457 T C het . 15 +intergenic NONE(dist=NONE),FAM230C(dist=20570) chrUn_gl000212 3479 3479 C T het . 9 +intergenic NONE(dist=NONE),FAM230C(dist=19513) chrUn_gl000212 4536 4536 A T het . 2 +intergenic NONE(dist=NONE),FAM230C(dist=19216) chrUn_gl000212 4833 4833 G A het . 8 +intergenic NONE(dist=NONE),FAM230C(dist=19155) chrUn_gl000212 4894 4894 C T het . 44 +intergenic NONE(dist=NONE),FAM230C(dist=19126) chrUn_gl000212 4922 4923 CC AT het . 31 +intergenic NONE(dist=NONE),FAM230C(dist=19126) chrUn_gl000212 4923 4923 C T het . 30 +intergenic NONE(dist=NONE),FAM230C(dist=18741) chrUn_gl000212 5308 5308 G A het . 3 +intergenic NONE(dist=NONE),FAM230C(dist=17972) chrUn_gl000212 6077 6077 A G het . 6 +intergenic NONE(dist=NONE),FAM230C(dist=17736) chrUn_gl000212 6313 6313 T C het . 14 +intergenic NONE(dist=NONE),FAM230C(dist=17711) chrUn_gl000212 6337 6338 GG AC het . 20 +intergenic NONE(dist=NONE),FAM230C(dist=17711) chrUn_gl000212 6338 6338 G C het . 14 +intergenic NONE(dist=NONE),FAM230C(dist=17674) chrUn_gl000212 6375 6375 T A het . 33 +intergenic NONE(dist=NONE),FAM230C(dist=17672) chrUn_gl000212 6377 6377 C A het . 31 +intergenic NONE(dist=NONE),FAM230C(dist=17661) chrUn_gl000212 6386 6388 TCT - het . 35 +intergenic NONE(dist=NONE),FAM230C(dist=17662) chrUn_gl000212 6387 6387 C T het . 28 +intergenic NONE(dist=NONE),FAM230C(dist=17602) chrUn_gl000212 6447 6447 C G het . 25 +intergenic NONE(dist=NONE),FAM230C(dist=17426) chrUn_gl000212 6623 6623 T C het . 42 +intergenic NONE(dist=NONE),FAM230C(dist=17423) chrUn_gl000212 6626 6626 A G het . 41 +intergenic NONE(dist=NONE),FAM230C(dist=17353) chrUn_gl000212 6695 6696 TT - het . 24 +intergenic NONE(dist=NONE),FAM230C(dist=17342) chrUn_gl000212 6707 6707 G A het . 29 +intergenic NONE(dist=NONE),FAM230C(dist=17321) chrUn_gl000212 6728 6728 A T het . 41 +intergenic NONE(dist=NONE),FAM230C(dist=17312) chrUn_gl000212 6737 6737 - A het . 43 +intergenic NONE(dist=NONE),FAM230C(dist=17305) chrUn_gl000212 6744 6744 G A het . 43 +intergenic NONE(dist=NONE),FAM230C(dist=17281) chrUn_gl000212 6768 6768 A G het . 47 +intergenic NONE(dist=NONE),FAM230C(dist=17273) chrUn_gl000212 6776 6776 A C het . 50 +intergenic NONE(dist=NONE),FAM230C(dist=17219) chrUn_gl000212 6830 6830 G A het . 38 +intergenic NONE(dist=NONE),FAM230C(dist=17208) chrUn_gl000212 6841 6841 T C het . 41 +intergenic NONE(dist=NONE),FAM230C(dist=17197) chrUn_gl000212 6852 6852 G A het . 40 +intergenic NONE(dist=NONE),FAM230C(dist=17164) chrUn_gl000212 6885 6885 C G het . 52 +intergenic NONE(dist=NONE),FAM230C(dist=17119) chrUn_gl000212 6930 6930 A G het . 49 +intergenic NONE(dist=NONE),FAM230C(dist=17113) chrUn_gl000212 6936 6936 T C het . 47 +intergenic NONE(dist=NONE),FAM230C(dist=17107) chrUn_gl000212 6942 6942 C T het . 40 +intergenic NONE(dist=NONE),FAM230C(dist=17034) chrUn_gl000212 7015 7015 G A het . 8 +intergenic NONE(dist=NONE),FAM230C(dist=16960) chrUn_gl000212 7089 7089 T G het . 35 +intergenic NONE(dist=NONE),FAM230C(dist=16874) chrUn_gl000212 7175 7175 A G het . 24 +ncRNA_intronic FAM230C chrUn_gl000212 35319 35319 G C het . 8 +ncRNA_intronic FAM230C chrUn_gl000212 36642 36642 A C het . 2 +ncRNA_intronic FAM230C chrUn_gl000212 40842 40842 G A het . 26 +ncRNA_intronic FAM230C chrUn_gl000212 40879 40880 GT CC het . 14 +ncRNA_intronic FAM230C chrUn_gl000212 40898 40898 T A het . 8 +ncRNA_intronic FAM230C chrUn_gl000212 41016 41016 T C het . 2 +ncRNA_intronic FAM230C chrUn_gl000212 42064 42064 C T het . 8 +ncRNA_intronic FAM230C chrUn_gl000212 42067 42067 G C het . 8 +ncRNA_intronic FAM230C chrUn_gl000212 43861 43861 C T het . 10 +ncRNA_exonic FAM230C chrUn_gl000212 47796 47796 A G het . 17 +ncRNA_intronic FAM230C chrUn_gl000212 51164 51164 C T het . 7 +ncRNA_exonic FAM230C chrUn_gl000212 51301 51301 C T het . 22 +ncRNA_exonic FAM230C chrUn_gl000212 51309 51311 AAG - het . 23 +intergenic FAM230C(dist=17011),NONE(dist=NONE) chrUn_gl000212 77779 77779 A G het . 9 +intergenic FAM230C(dist=21531),NONE(dist=NONE) chrUn_gl000212 82299 82299 A G het . 12 +intergenic FAM230C(dist=29390),NONE(dist=NONE) chrUn_gl000212 90158 90158 A G het . 4 +intergenic FAM230C(dist=35252),NONE(dist=NONE) chrUn_gl000212 96020 96020 G T het . 5 +intergenic FAM230C(dist=35254),NONE(dist=NONE) chrUn_gl000212 96022 96022 G A het . 5 +intergenic FAM230C(dist=35415),NONE(dist=NONE) chrUn_gl000212 96183 96183 A T het . 5 +intergenic FAM230C(dist=35566),NONE(dist=NONE) chrUn_gl000212 96334 96334 C T het . 2 +intergenic FAM230C(dist=62498),NONE(dist=NONE) chrUn_gl000212 123266 123266 G A het . 10 +intergenic FAM230C(dist=66157),NONE(dist=NONE) chrUn_gl000212 126925 126925 A C het . 27 +intergenic FAM230C(dist=69481),NONE(dist=NONE) chrUn_gl000212 130249 130249 C T het . 8 +intergenic FAM230C(dist=77701),NONE(dist=NONE) chrUn_gl000212 138469 138469 G A het . 6 +intergenic FAM230C(dist=97554),NONE(dist=NONE) chrUn_gl000212 158322 158322 G A het . 2 +intergenic FAM230C(dist=102945),NONE(dist=NONE) chrUn_gl000212 163713 163713 C A het . 5 +intergenic FAM230C(dist=103007),NONE(dist=NONE) chrUn_gl000212 163775 163775 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 2338 2338 A T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 2367 2367 A - het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 3504 3504 T - het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 4346 4346 A C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 4477 4477 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 6256 6256 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 14659 14659 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 19152 19152 G C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 21014 21014 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 21031 21031 A - het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 30594 30594 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 30617 30617 T G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 30980 30980 C G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 31033 31033 C G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 32458 32458 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 35088 35088 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 42410 42410 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 48240 48240 C A het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 48266 48266 C T het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 52728 52728 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 53471 53472 AA CT het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 53479 53479 T G het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 53655 53655 C A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 53669 53669 T - het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 53732 53732 T C het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 59105 59105 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 60993 60993 T G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 61035 61035 A G het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 61084 61084 A T het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 61096 61096 T A het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 61201 61201 T A het . 35 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 61483 61483 - G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 61934 61934 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 62976 62976 - A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 63322 63322 C G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 69990 69991 TC GA het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 71838 71838 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 72006 72006 T - het . 27 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 72015 72015 C T het . 32 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 72063 72063 T A het . 47 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 72177 72177 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 73285 73285 T C het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 73330 73330 C G het . 36 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 73334 73334 A C het . 38 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 73538 73542 TCTTA - het . 33 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 73682 73682 G T het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 74885 74885 - AAAT het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 74958 74958 T C het . 33 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 74975 74975 G A het . 42 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 75156 75156 G T het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 75234 75234 A G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 85170 85170 A C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 88036 88037 CA TG het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 88037 88037 A G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 88040 88040 G C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 88077 88077 C T het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 116535 116535 G C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 131759 131759 G T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 136931 136931 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000214 136933 136933 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 60357 60357 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 60370 60370 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 83939 83939 G T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 83963 83963 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 84002 84002 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 111096 111096 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 138961 138962 CA TG het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 138975 138975 C T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 138992 138992 A T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 139014 139014 A C het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 139021 139021 T C het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 139044 139044 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 139599 139599 A G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 139825 139825 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 139864 139864 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 156802 156802 A G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 156824 156824 C G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 156850 156850 G A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 156865 156865 C A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 157030 157030 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 157070 157070 G T het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 157088 157088 G T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 166714 166714 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 166799 166799 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 166817 166817 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 166819 166819 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 166835 166835 C A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 166855 166855 G A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 166858 166858 T A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 166866 166866 G T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 166871 166871 T A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 166894 166894 G C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 167329 167329 A T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 167356 167357 GG CA het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 167362 167362 T C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000216 167380 167380 C T het . 12 +intergenic NONE(dist=NONE),LOC100233156(dist=15112) chrUn_gl000218 23674 23674 T C het . 9 +intergenic NONE(dist=NONE),LOC100233156(dist=15075) chrUn_gl000218 23711 23711 T C het . 16 +intergenic NONE(dist=NONE),LOC100233156(dist=9355) chrUn_gl000218 29430 29431 AG - het . 6 +ncRNA_exonic LOC100233156 chrUn_gl000218 39922 39922 A G het . 6 +intergenic NONE(dist=NONE),LOC105379477(dist=36298) chrUn_gl000219 9099 9099 T C het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=36286) chrUn_gl000219 9111 9111 G A het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=36251) chrUn_gl000219 9146 9146 T C het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=35489) chrUn_gl000219 9908 9908 C T het . 1 +intergenic NONE(dist=NONE),LOC105379477(dist=34341) chrUn_gl000219 11056 11056 T C het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=32276) chrUn_gl000219 13121 13121 G A het . 3 +intergenic NONE(dist=NONE),LOC105379477(dist=31933) chrUn_gl000219 13464 13464 T C het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=30673) chrUn_gl000219 14724 14724 T C het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=29568) chrUn_gl000219 15829 15829 C - het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=29526) chrUn_gl000219 15871 15871 T C het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=29335) chrUn_gl000219 16062 16062 C G het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=27435) chrUn_gl000219 17962 17962 A T het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=26537) chrUn_gl000219 18860 18860 T A het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=5257) chrUn_gl000219 40140 40140 A T het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=5229) chrUn_gl000219 40168 40168 - A het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=5200) chrUn_gl000219 40197 40197 T C het . 2 +intergenic NONE(dist=NONE),LOC105379477(dist=3784) chrUn_gl000219 41613 41613 A C het . 1 +intergenic NONE(dist=NONE),LOC105379477(dist=1831) chrUn_gl000219 43566 43566 T C het . 2 +upstream LOC105379477(dist=479) chrUn_gl000219 44918 44918 A T het . 2 +upstream LOC105379477(dist=475) chrUn_gl000219 44922 44922 T G het . 2 +ncRNA_intronic LOC105379477 chrUn_gl000219 45837 45837 T C het . 5 +ncRNA_intronic LOC105379477 chrUn_gl000219 45861 45861 G T het . 5 +ncRNA_intronic LOC105379477 chrUn_gl000219 45863 45863 T G het . 5 +ncRNA_intronic LOC105379477 chrUn_gl000219 46030 46030 T C het . 5 +ncRNA_intronic LOC105379477 chrUn_gl000219 46298 46298 A G het . 2 +ncRNA_intronic LOC105379477 chrUn_gl000219 46320 46320 C A het . 1 +ncRNA_intronic LOC105379477 chrUn_gl000219 46329 46329 T A het . 1 +ncRNA_intronic LOC105379477 chrUn_gl000219 46569 46571 AAA - het . 2 +ncRNA_intronic LOC105379477 chrUn_gl000219 46850 46850 C T het . 2 +ncRNA_intronic LOC105379477 chrUn_gl000219 46856 46856 A C het . 3 +ncRNA_intronic LOC105379477 chrUn_gl000219 47693 47693 G A het . 4 +ncRNA_intronic LOC105379477 chrUn_gl000219 47755 47755 T G het . 3 +ncRNA_intronic LOC105379477 chrUn_gl000219 48230 48230 C A het . 2 +ncRNA_intronic LOC105379477 chrUn_gl000219 48647 48647 A - het . 3 +ncRNA_intronic LOC105379477 chrUn_gl000219 48669 48669 T G het . 3 +ncRNA_intronic LOC105379477 chrUn_gl000219 49461 49461 G A het . 2 +ncRNA_intronic LOC105379477 chrUn_gl000219 49633 49633 G A het . 2 +ncRNA_intronic LOC105379477 chrUn_gl000219 50420 50420 T C het . 3 +ncRNA_intronic LOC105379477 chrUn_gl000219 51854 51854 T C het . 1 +ncRNA_intronic LOC105379477 chrUn_gl000219 52541 52541 - G het . 2 +ncRNA_intronic LOC105379477 chrUn_gl000219 53163 53163 A G het . 3 +ncRNA_intronic LOC105379477 chrUn_gl000219 53194 53194 G A het . 2 +ncRNA_intronic LOC105379477 chrUn_gl000219 53650 53650 G T het . 1 +ncRNA_exonic LOC105379477 chrUn_gl000219 54169 54169 T C het . 2 +ncRNA_intronic LOC105379477 chrUn_gl000219 54510 54510 T C het . 1 +ncRNA_intronic LOC105379477 chrUn_gl000219 55579 55579 A G het . 2 +ncRNA_exonic LOC105379477,LOC283788 chrUn_gl000219 56862 56862 C T het . 4 +ncRNA_exonic LOC105379477,LOC283788 chrUn_gl000219 56883 56883 G T het . 5 +ncRNA_exonic LOC105379477,LOC283788 chrUn_gl000219 56890 56890 C G het . 5 +ncRNA_exonic LOC105379477,LOC283788 chrUn_gl000219 56905 56905 C T het . 4 +ncRNA_exonic LOC105379477,LOC283788 chrUn_gl000219 57144 57144 C G het . 2 +ncRNA_exonic LOC283788 chrUn_gl000219 58271 58271 G A het . 2 +ncRNA_exonic LOC283788 chrUn_gl000219 58444 58444 G A het . 4 +ncRNA_exonic LOC283788 chrUn_gl000219 58454 58454 A G het . 4 +ncRNA_exonic LOC283788 chrUn_gl000219 58514 58514 T C het . 2 +ncRNA_exonic LOC283788 chrUn_gl000219 58871 58871 T C het . 9 +ncRNA_exonic LOC283788 chrUn_gl000219 58921 58921 C T het . 24 +ncRNA_exonic LOC283788 chrUn_gl000219 58966 58966 T G het . 12 +ncRNA_exonic LOC283788 chrUn_gl000219 58972 58972 C A het . 12 +ncRNA_exonic LOC283788 chrUn_gl000219 58974 58974 G T het . 11 +ncRNA_exonic LOC283788 chrUn_gl000219 58982 58982 C T het . 9 +ncRNA_exonic LOC283788 chrUn_gl000219 58985 58985 C A het . 6 +ncRNA_intronic LOC283788 chrUn_gl000219 59501 59501 T C het . 3 +ncRNA_intronic LOC283788 chrUn_gl000219 59513 59513 A G het . 3 +ncRNA_intronic LOC283788 chrUn_gl000219 59524 59524 G A het . 3 +ncRNA_intronic LOC283788 chrUn_gl000219 59545 59545 C A het . 3 +ncRNA_intronic LOC283788 chrUn_gl000219 60732 60732 T C het . 1 +ncRNA_intronic LOC283788 chrUn_gl000219 60756 60756 A G het . 2 +ncRNA_intronic LOC283788 chrUn_gl000219 61090 61090 T C het . 2 +ncRNA_intronic LOC283788 chrUn_gl000219 61985 61985 T C het . 2 +ncRNA_intronic LOC283788 chrUn_gl000219 62545 62545 A T het . 2 +ncRNA_intronic LOC283788 chrUn_gl000219 62588 62588 A - het . 3 +ncRNA_intronic LOC283788 chrUn_gl000219 69755 69755 T C het . 2 +ncRNA_intronic LOC283788 chrUn_gl000219 70177 70177 T - het . 2 +ncRNA_intronic LOC283788 chrUn_gl000219 70373 70373 C T het . 2 +ncRNA_intronic LOC283788 chrUn_gl000219 70433 70433 C A het . 2 +ncRNA_intronic LOC283788 chrUn_gl000219 70767 70767 T A het . 3 +ncRNA_intronic LOC283788 chrUn_gl000219 71202 71202 A T het . 2 +ncRNA_intronic LOC283788 chrUn_gl000219 71262 71262 A T het . 2 +ncRNA_intronic LOC283788 chrUn_gl000219 71272 71272 G A het . 1 +ncRNA_intronic LOC283788 chrUn_gl000219 71275 71276 GT AC het . 1 +ncRNA_intronic LOC283788 chrUn_gl000219 71280 71280 G T het . 1 +ncRNA_intronic LOC283788 chrUn_gl000219 71290 71290 T C het . 1 +ncRNA_intronic LOC283788 chrUn_gl000219 71892 71892 T - het . 4 +ncRNA_exonic FRG1EP chrUn_gl000219 73665 73665 C T het . 2 +ncRNA_exonic FRG1EP chrUn_gl000219 74086 74086 T C het . 3 +ncRNA_exonic FRG1EP chrUn_gl000219 74128 74128 T C het . 3 +ncRNA_exonic FRG1EP chrUn_gl000219 75439 75439 C G het . 2 +ncRNA_intronic FRG1EP,LOC283788 chrUn_gl000219 77651 77651 C T het . 2 +ncRNA_intronic FRG1EP,LOC283788 chrUn_gl000219 77848 77848 A C het . 2 +ncRNA_intronic FRG1EP,LOC283788 chrUn_gl000219 77855 77855 T C het . 2 +ncRNA_intronic FRG1EP,LOC283788 chrUn_gl000219 79084 79084 T C het . 22 +ncRNA_intronic FRG1EP,LOC283788 chrUn_gl000219 79105 79105 T C het . 12 +ncRNA_intronic FRG1EP,LOC283788 chrUn_gl000219 80861 80861 A G het . 2 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 85486 85486 T C het . 16 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 86227 86227 A T het . 2 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 86233 86233 A G het . 3 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 86274 86274 A T het . 3 +ncRNA_exonic FRG1DP chrUn_gl000219 87480 87480 C T het . 3 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 88496 88496 T A het . 21 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 88503 88503 C T het . 23 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 88529 88529 A C het . 20 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 88549 88549 C T het . 14 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 88577 88577 A T het . 5 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 97396 97396 A G het . 9 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 97501 97501 G A het . 5 +ncRNA_intronic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 98010 98010 C T het . 2 +ncRNA_exonic FRG1EP,LOC283788 chrUn_gl000219 99260 99260 T C het . 2 +ncRNA_exonic FRG1EP,LOC283788 chrUn_gl000219 99274 99274 C A het . 2 +ncRNA_exonic FRG1EP,LOC283788 chrUn_gl000219 99300 99300 G A het . 2 +ncRNA_exonic FRG1DP,FRG1EP,LOC283788 chrUn_gl000219 99466 99466 G T het . 17 +ncRNA_exonic FRG1EP,LOC283788 chrUn_gl000219 99499 99499 G A het . 7 +intergenic LOC283788(dist=6182),NONE(dist=NONE) chrUn_gl000219 105824 105824 C G het . 3 +intergenic LOC283788(dist=6224),NONE(dist=NONE) chrUn_gl000219 105866 105866 T C het . 6 +intergenic LOC283788(dist=6563),NONE(dist=NONE) chrUn_gl000219 106205 106205 T G het . 4 +intergenic LOC283788(dist=7290),NONE(dist=NONE) chrUn_gl000219 106932 106932 G T het . 2 +intergenic LOC283788(dist=7305),NONE(dist=NONE) chrUn_gl000219 106947 106947 G A het . 2 +intergenic LOC283788(dist=7325),NONE(dist=NONE) chrUn_gl000219 106967 106967 T A het . 2 +intergenic LOC283788(dist=9263),NONE(dist=NONE) chrUn_gl000219 108905 108905 A G het . 6 +intergenic LOC283788(dist=9272),NONE(dist=NONE) chrUn_gl000219 108914 108914 C G het . 6 +intergenic LOC283788(dist=11064),NONE(dist=NONE) chrUn_gl000219 110706 110706 T C het . 5 +intergenic LOC283788(dist=14770),NONE(dist=NONE) chrUn_gl000219 114412 114412 A T het . 2 +intergenic LOC283788(dist=14880),NONE(dist=NONE) chrUn_gl000219 114522 114522 A C het . 3 +intergenic LOC283788(dist=14884),NONE(dist=NONE) chrUn_gl000219 114526 114526 C T het . 3 +intergenic LOC283788(dist=14900),NONE(dist=NONE) chrUn_gl000219 114542 114542 T - het . 2 +intergenic LOC283788(dist=15855),NONE(dist=NONE) chrUn_gl000219 115497 115497 A G het . 3 +intergenic LOC283788(dist=16177),NONE(dist=NONE) chrUn_gl000219 115819 115819 C A het . 2 +intergenic LOC283788(dist=16215),NONE(dist=NONE) chrUn_gl000219 115857 115857 A C het . 2 +intergenic LOC283788(dist=16430),NONE(dist=NONE) chrUn_gl000219 116072 116072 G A het . 4 +intergenic LOC283788(dist=17281),NONE(dist=NONE) chrUn_gl000219 116923 116923 G A het . 2 +intergenic LOC283788(dist=21350),NONE(dist=NONE) chrUn_gl000219 120992 120992 A C het . 1 +intergenic LOC283788(dist=21523),NONE(dist=NONE) chrUn_gl000219 121165 121165 C T het . 2 +intergenic LOC283788(dist=22402),NONE(dist=NONE) chrUn_gl000219 122044 122044 T G het . 3 +intergenic LOC283788(dist=22409),NONE(dist=NONE) chrUn_gl000219 122051 122051 G C het . 3 +intergenic LOC283788(dist=22413),NONE(dist=NONE) chrUn_gl000219 122055 122055 G T het . 3 +intergenic LOC283788(dist=22418),NONE(dist=NONE) chrUn_gl000219 122060 122060 T C het . 3 +intergenic LOC283788(dist=22832),NONE(dist=NONE) chrUn_gl000219 122474 122474 T G het . 5 +intergenic LOC283788(dist=26161),NONE(dist=NONE) chrUn_gl000219 125803 125803 C T het . 1 +intergenic LOC283788(dist=29624),NONE(dist=NONE) chrUn_gl000219 129266 129266 C T het . 2 +intergenic LOC283788(dist=29631),NONE(dist=NONE) chrUn_gl000219 129273 129273 G T het . 2 +intergenic LOC283788(dist=29638),NONE(dist=NONE) chrUn_gl000219 129280 129280 G A het . 1 +intergenic LOC283788(dist=29674),NONE(dist=NONE) chrUn_gl000219 129316 129316 T G het . 2 +intergenic LOC283788(dist=33377),NONE(dist=NONE) chrUn_gl000219 133019 133019 A G het . 2 +intergenic LOC283788(dist=33636),NONE(dist=NONE) chrUn_gl000219 133278 133278 G C het . 2 +intergenic LOC283788(dist=38937),NONE(dist=NONE) chrUn_gl000219 138579 138579 T C het . 2 +intergenic LOC283788(dist=39551),NONE(dist=NONE) chrUn_gl000219 139193 139193 A T het . 6 +intergenic LOC283788(dist=39554),NONE(dist=NONE) chrUn_gl000219 139196 139196 C A het . 6 +intergenic LOC283788(dist=39561),NONE(dist=NONE) chrUn_gl000219 139203 139203 C T het . 6 +intergenic LOC283788(dist=45720),NONE(dist=NONE) chrUn_gl000219 145362 145362 T C het . 2 +intergenic LOC283788(dist=45726),NONE(dist=NONE) chrUn_gl000219 145368 145368 C T het . 2 +intergenic LOC283788(dist=47061),NONE(dist=NONE) chrUn_gl000219 146703 146703 A - het . 2 +intergenic LOC283788(dist=49388),NONE(dist=NONE) chrUn_gl000219 149030 149030 C T het . 2 +intergenic LOC283788(dist=50395),NONE(dist=NONE) chrUn_gl000219 150037 150037 G A het . 1 +intergenic LOC283788(dist=50417),NONE(dist=NONE) chrUn_gl000219 150059 150059 C G het . 1 +intergenic LOC283788(dist=50639),NONE(dist=NONE) chrUn_gl000219 150281 150281 T C het . 2 +intergenic LOC283788(dist=52494),NONE(dist=NONE) chrUn_gl000219 152136 152136 A G het . 2 +intergenic LOC283788(dist=60532),NONE(dist=NONE) chrUn_gl000219 160174 160174 T - het . 2 +intergenic LOC283788(dist=62161),NONE(dist=NONE) chrUn_gl000219 161803 161803 A G het . 2 +intergenic LOC283788(dist=75308),NONE(dist=NONE) chrUn_gl000219 174950 174955 GTAGCA - het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=96989) chrUn_gl000220 140 140 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=96984) chrUn_gl000220 145 145 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=96306) chrUn_gl000220 823 823 T C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=95675) chrUn_gl000220 1454 1454 A G het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=95614) chrUn_gl000220 1515 1515 T C het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=95595) chrUn_gl000220 1533 1534 AG CC het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=95296) chrUn_gl000220 1833 1833 C A het . 14 +intergenic NONE(dist=NONE),LOC100507412(dist=95259) chrUn_gl000220 1870 1870 G C het . 11 +intergenic NONE(dist=NONE),LOC100507412(dist=95246) chrUn_gl000220 1883 1883 A C het . 8 +intergenic NONE(dist=NONE),LOC100507412(dist=95237) chrUn_gl000220 1892 1892 C A het . 9 +intergenic NONE(dist=NONE),LOC100507412(dist=95227) chrUn_gl000220 1902 1902 G A het . 8 +intergenic NONE(dist=NONE),LOC100507412(dist=94755) chrUn_gl000220 2374 2374 G T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=93184) chrUn_gl000220 3945 3945 T G het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=93175) chrUn_gl000220 3954 3954 - T het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=92849) chrUn_gl000220 4280 4280 G C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=92761) chrUn_gl000220 4368 4368 A C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=92588) chrUn_gl000220 4541 4541 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=92586) chrUn_gl000220 4543 4543 A C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=92231) chrUn_gl000220 4898 4898 C G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=91647) chrUn_gl000220 5482 5482 T C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=91579) chrUn_gl000220 5550 5550 C G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=91429) chrUn_gl000220 5700 5700 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=90976) chrUn_gl000220 6153 6153 T A het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=88427) chrUn_gl000220 8702 8702 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=88031) chrUn_gl000220 9098 9098 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=87521) chrUn_gl000220 9608 9608 T C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=87463) chrUn_gl000220 9666 9666 T C het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=87171) chrUn_gl000220 9958 9958 T C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=87076) chrUn_gl000220 10053 10053 G A het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=85971) chrUn_gl000220 11158 11158 T C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=85802) chrUn_gl000220 11327 11327 A T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=84853) chrUn_gl000220 12276 12276 T C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=82664) chrUn_gl000220 14465 14465 A G het . 1 +intergenic NONE(dist=NONE),LOC100507412(dist=82643) chrUn_gl000220 14486 14486 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=82539) chrUn_gl000220 14590 14590 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=82005) chrUn_gl000220 15124 15124 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=80281) chrUn_gl000220 16848 16848 A T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=78197) chrUn_gl000220 18932 18932 T C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=76327) chrUn_gl000220 20802 20802 G T het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=76228) chrUn_gl000220 20901 20901 T A het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=75601) chrUn_gl000220 21528 21528 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=74980) chrUn_gl000220 22149 22149 G T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=74965) chrUn_gl000220 22164 22164 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=74719) chrUn_gl000220 22410 22410 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=74417) chrUn_gl000220 22712 22712 T C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=74214) chrUn_gl000220 22915 22915 T C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=74083) chrUn_gl000220 23046 23046 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=73350) chrUn_gl000220 23779 23779 - A het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=72684) chrUn_gl000220 24445 24445 G A het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=71597) chrUn_gl000220 25532 25532 C T het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=71595) chrUn_gl000220 25534 25534 G T het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=71519) chrUn_gl000220 25610 25610 G T het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=71336) chrUn_gl000220 25793 25793 C T het . 12 +intergenic NONE(dist=NONE),LOC100507412(dist=71317) chrUn_gl000220 25812 25812 C T het . 9 +intergenic NONE(dist=NONE),LOC100507412(dist=71303) chrUn_gl000220 25826 25826 A C het . 6 +intergenic NONE(dist=NONE),LOC100507412(dist=71065) chrUn_gl000220 26064 26064 G A het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=70799) chrUn_gl000220 26330 26330 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=70616) chrUn_gl000220 26513 26513 T C het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=70604) chrUn_gl000220 26525 26525 G C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=70402) chrUn_gl000220 26724 26727 GTTG - het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=70390) chrUn_gl000220 26739 26739 T C het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=69980) chrUn_gl000220 27149 27149 T C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=69784) chrUn_gl000220 27345 27345 T C het . 1 +intergenic NONE(dist=NONE),LOC100507412(dist=69734) chrUn_gl000220 27395 27395 A C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=69623) chrUn_gl000220 27506 27506 T C het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=69413) chrUn_gl000220 27716 27716 A G het . 1 +intergenic NONE(dist=NONE),LOC100507412(dist=69146) chrUn_gl000220 27983 27983 A C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=68661) chrUn_gl000220 28468 28468 C G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=68375) chrUn_gl000220 28754 28754 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=68367) chrUn_gl000220 28762 28762 G C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=68248) chrUn_gl000220 28881 28881 T G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=67934) chrUn_gl000220 29194 29195 CT TC het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=67333) chrUn_gl000220 29796 29796 A G het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=67325) chrUn_gl000220 29804 29804 G A het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=67008) chrUn_gl000220 30120 30121 GG AA het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=66840) chrUn_gl000220 30289 30289 G C het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=66533) chrUn_gl000220 30596 30596 A C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=66530) chrUn_gl000220 30599 30599 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=66158) chrUn_gl000220 30971 30971 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=66082) chrUn_gl000220 31047 31047 T C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=66009) chrUn_gl000220 31120 31120 C A het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=65839) chrUn_gl000220 31290 31290 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=65664) chrUn_gl000220 31465 31465 C A het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=65656) chrUn_gl000220 31473 31473 T C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=65470) chrUn_gl000220 31659 31659 G A het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=63821) chrUn_gl000220 33308 33308 A C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=63011) chrUn_gl000220 34118 34118 C T het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=62697) chrUn_gl000220 34432 34432 - G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=62327) chrUn_gl000220 34802 34802 A T het . 7 +intergenic NONE(dist=NONE),LOC100507412(dist=62082) chrUn_gl000220 35047 35047 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=59208) chrUn_gl000220 37921 37921 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=59203) chrUn_gl000220 37926 37926 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=59139) chrUn_gl000220 37990 37990 C T het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=58555) chrUn_gl000220 38574 38574 T A het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=58159) chrUn_gl000220 38970 38970 T C het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=57816) chrUn_gl000220 39313 39313 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=57778) chrUn_gl000220 39351 39351 T - het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=56598) chrUn_gl000220 40531 40531 G T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=54702) chrUn_gl000220 42427 42427 G T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=54687) chrUn_gl000220 42442 42442 G A het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=54148) chrUn_gl000220 42981 42981 A C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=54132) chrUn_gl000220 42997 42997 G C het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=54127) chrUn_gl000220 43002 43002 G A het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=52917) chrUn_gl000220 44212 44212 C T het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=52134) chrUn_gl000220 44995 44995 C T het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=52104) chrUn_gl000220 45025 45025 A G het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=52059) chrUn_gl000220 45070 45070 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=51743) chrUn_gl000220 45386 45386 G A het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=49220) chrUn_gl000220 47909 47909 C T het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=49054) chrUn_gl000220 48075 48075 C T het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=49052) chrUn_gl000220 48077 48077 C T het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=46887) chrUn_gl000220 50242 50242 T G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=46426) chrUn_gl000220 50703 50703 G A het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=45755) chrUn_gl000220 51374 51374 A C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=44631) chrUn_gl000220 52498 52498 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=44599) chrUn_gl000220 52530 52530 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=42039) chrUn_gl000220 55090 55090 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=42027) chrUn_gl000220 55102 55102 T C het . 1 +intergenic NONE(dist=NONE),LOC100507412(dist=42024) chrUn_gl000220 55105 55105 A C het . 1 +intergenic NONE(dist=NONE),LOC100507412(dist=40856) chrUn_gl000220 56273 56273 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=40048) chrUn_gl000220 57081 57081 T G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=39859) chrUn_gl000220 57270 57270 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=39426) chrUn_gl000220 57703 57703 C T het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=39319) chrUn_gl000220 57810 57810 G A het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=38999) chrUn_gl000220 58130 58130 T C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=38977) chrUn_gl000220 58152 58152 A T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=38739) chrUn_gl000220 58390 58390 T G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=34125) chrUn_gl000220 63004 63004 A G het . 1 +intergenic NONE(dist=NONE),LOC100507412(dist=34083) chrUn_gl000220 63046 63046 A C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=33195) chrUn_gl000220 63934 63934 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=30699) chrUn_gl000220 66430 66430 T C het . 1 +intergenic NONE(dist=NONE),LOC100507412(dist=29856) chrUn_gl000220 67273 67273 T C het . 6 +intergenic NONE(dist=NONE),LOC100507412(dist=29845) chrUn_gl000220 67284 67284 T G het . 7 +intergenic NONE(dist=NONE),LOC100507412(dist=26977) chrUn_gl000220 70152 70152 T G het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=26656) chrUn_gl000220 70473 70473 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=26588) chrUn_gl000220 70541 70541 - AAACA het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=24559) chrUn_gl000220 72570 72570 T C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=23992) chrUn_gl000220 73137 73137 A G het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=23886) chrUn_gl000220 73243 73243 G C het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=23653) chrUn_gl000220 73476 73476 A C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=23518) chrUn_gl000220 73611 73611 C A het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=23281) chrUn_gl000220 73843 73848 AACAAC - het . 6 +intergenic NONE(dist=NONE),LOC100507412(dist=23246) chrUn_gl000220 73883 73883 T C het . 6 +intergenic NONE(dist=NONE),LOC100507412(dist=23239) chrUn_gl000220 73890 73890 G T het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=22541) chrUn_gl000220 74588 74588 C G het . 7 +intergenic NONE(dist=NONE),LOC100507412(dist=22512) chrUn_gl000220 74617 74617 A C het . 8 +intergenic NONE(dist=NONE),LOC100507412(dist=22040) chrUn_gl000220 75089 75089 T C het . 6 +intergenic NONE(dist=NONE),LOC100507412(dist=22017) chrUn_gl000220 75112 75112 C G het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=21983) chrUn_gl000220 75146 75146 T A het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=20919) chrUn_gl000220 76210 76210 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=20574) chrUn_gl000220 76555 76555 G A het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=20319) chrUn_gl000220 76810 76810 T C het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=20243) chrUn_gl000220 76886 76886 G T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=20065) chrUn_gl000220 77064 77064 A T het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=19314) chrUn_gl000220 77815 77815 C T het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=18385) chrUn_gl000220 78744 78744 - G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=18345) chrUn_gl000220 78784 78784 C T het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=18115) chrUn_gl000220 79014 79014 C G het . 1 +intergenic NONE(dist=NONE),LOC100507412(dist=16558) chrUn_gl000220 80571 80571 C G het . 6 +intergenic NONE(dist=NONE),LOC100507412(dist=16321) chrUn_gl000220 80808 80808 C G het . 15 +intergenic NONE(dist=NONE),LOC100507412(dist=16275) chrUn_gl000220 80852 80854 TTC - het . 14 +intergenic NONE(dist=NONE),LOC100507412(dist=16082) chrUn_gl000220 81047 81047 T - het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=15161) chrUn_gl000220 81968 81968 T G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=14862) chrUn_gl000220 82267 82267 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=14720) chrUn_gl000220 82409 82409 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=14594) chrUn_gl000220 82535 82535 G A het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=14589) chrUn_gl000220 82540 82540 G C het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=14542) chrUn_gl000220 82587 82587 G A het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=14489) chrUn_gl000220 82640 82640 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=14041) chrUn_gl000220 83088 83088 T A het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=13127) chrUn_gl000220 84002 84002 C G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=11239) chrUn_gl000220 85890 85890 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=10872) chrUn_gl000220 86257 86257 G A het . 1 +intergenic NONE(dist=NONE),LOC100507412(dist=10231) chrUn_gl000220 86898 86898 G T het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=9915) chrUn_gl000220 87214 87214 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=9578) chrUn_gl000220 87551 87551 G C het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=9294) chrUn_gl000220 87835 87835 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=8768) chrUn_gl000220 88361 88361 A T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=7983) chrUn_gl000220 89146 89146 T G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=7956) chrUn_gl000220 89173 89173 T G het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=7296) chrUn_gl000220 89833 89833 A G het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=7079) chrUn_gl000220 90050 90050 G A het . 1 +intergenic NONE(dist=NONE),LOC100507412(dist=7066) chrUn_gl000220 90063 90063 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=6929) chrUn_gl000220 90200 90200 T C het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=6904) chrUn_gl000220 90225 90225 C T het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=5294) chrUn_gl000220 91835 91835 C A het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=3984) chrUn_gl000220 93145 93145 C A het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=3665) chrUn_gl000220 93464 93464 G T het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=3645) chrUn_gl000220 93484 93484 C T het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=3301) chrUn_gl000220 93828 93828 A T het . 4 +intergenic NONE(dist=NONE),LOC100507412(dist=3113) chrUn_gl000220 94016 94016 G A het . 5 +intergenic NONE(dist=NONE),LOC100507412(dist=2683) chrUn_gl000220 94446 94446 A G het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=2555) chrUn_gl000220 94574 94574 A T het . 2 +intergenic NONE(dist=NONE),LOC100507412(dist=1930) chrUn_gl000220 95199 95199 A G het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=1787) chrUn_gl000220 95342 95342 C A het . 3 +intergenic NONE(dist=NONE),LOC100507412(dist=1523) chrUn_gl000220 95606 95606 G A het . 2 +upstream LOC100507412(dist=960) chrUn_gl000220 96169 96169 G A het . 2 +upstream LOC100507412(dist=513) chrUn_gl000220 96616 96616 T C het . 3 +upstream LOC100507412(dist=508) chrUn_gl000220 96621 96621 G T het . 3 +upstream LOC100507412(dist=506) chrUn_gl000220 96623 96623 T C het . 3 +upstream LOC100507412(dist=486) chrUn_gl000220 96643 96643 T C het . 2 +upstream LOC100507412(dist=479) chrUn_gl000220 96650 96650 T C het . 2 +ncRNA_intronic LOC100507412 chrUn_gl000220 97488 97488 T C het . 4 +ncRNA_intronic LOC100507412 chrUn_gl000220 97528 97528 - GTTT het . 4 +ncRNA_intronic LOC100507412 chrUn_gl000220 97948 97948 C T het . 4 +ncRNA_intronic LOC100507412 chrUn_gl000220 98276 98277 TG - het . 10 +ncRNA_intronic LOC100507412 chrUn_gl000220 98279 98279 C A het . 10 +ncRNA_intronic LOC100507412 chrUn_gl000220 98284 98286 TTC - het . 9 +ncRNA_intronic LOC100507412 chrUn_gl000220 98305 98305 - CTCT het . 6 +ncRNA_intronic LOC100507412 chrUn_gl000220 99713 99713 C T het . 4 +ncRNA_intronic LOC100507412 chrUn_gl000220 99733 99733 G A het . 4 +ncRNA_intronic LOC100507412 chrUn_gl000220 99806 99806 C G het . 2 +ncRNA_intronic LOC100507412 chrUn_gl000220 101263 101263 T C het . 5 +ncRNA_exonic RNA28SN1,RNA28SN2,RNA28SN3,RNA28SN4,RNA28SN5,RNA45SN1,RNA45SN2,RNA45SN3,RNA45SN4,RNA45SN5 chrUn_gl000220 118088 118088 C T het . 25 +ncRNA_exonic RNA28SN1,RNA28SN2,RNA28SN3,RNA28SN4,RNA28SN5,RNA45SN1,RNA45SN2,RNA45SN3,RNA45SN4,RNA45SN5 chrUn_gl000220 118145 118145 C - het . 10 +ncRNA_exonic RNA28SN1,RNA28SN2,RNA28SN3,RNA28SN4,RNA28SN5,RNA45SN1,RNA45SN2,RNA45SN3,RNA45SN4,RNA45SN5 chrUn_gl000220 118257 118257 G A het . 7 +ncRNA_exonic RNA45SN1,RNA45SN2,RNA45SN3,RNA45SN4,RNA45SN5 chrUn_gl000220 118418 118423 CGCGCG - het . 14 +ncRNA_exonic RNA45SN1,RNA45SN2,RNA45SN3,RNA45SN4,RNA45SN5 chrUn_gl000220 118436 118436 C T het . 20 +ncRNA_exonic RNA45SN1,RNA45SN2,RNA45SN3,RNA45SN4,RNA45SN5 chrUn_gl000220 118542 118543 GT - het . 14 +ncRNA_intronic LOC100507412 chrUn_gl000220 118832 118832 T C het . 17 +ncRNA_intronic LOC100507412 chrUn_gl000220 118890 118890 C T het . 15 +ncRNA_intronic LOC100507412 chrUn_gl000220 118944 118944 G A het . 20 +ncRNA_intronic LOC100507412 chrUn_gl000220 118979 118979 A C het . 17 +ncRNA_intronic LOC100507412 chrUn_gl000220 119255 119255 C T het . 23 +ncRNA_intronic LOC100507412 chrUn_gl000220 119333 119333 A C het . 28 +ncRNA_intronic LOC100507412 chrUn_gl000220 119389 119389 C T het . 10 +ncRNA_intronic LOC100507412 chrUn_gl000220 119393 119393 C T het . 12 +ncRNA_intronic LOC100507412 chrUn_gl000220 119880 119880 T C het . 22 +ncRNA_intronic LOC100507412 chrUn_gl000220 119923 119923 A C het . 29 +ncRNA_intronic LOC100507412 chrUn_gl000220 120493 120493 C A het . 12 +ncRNA_intronic LOC100507412 chrUn_gl000220 120998 121001 TTCC - het . 13 +ncRNA_intronic LOC100507412 chrUn_gl000220 121034 121034 C T het . 19 +ncRNA_intronic LOC100507412 chrUn_gl000220 121776 121776 C T het . 27 +ncRNA_exonic LOC100507412 chrUn_gl000220 121959 121959 C A het . 39 +ncRNA_exonic LOC100507412 chrUn_gl000220 121990 121990 C G het . 31 +ncRNA_intronic LOC100507412 chrUn_gl000220 123219 123219 C G het . 39 +ncRNA_intronic LOC100507412 chrUn_gl000220 123239 123239 T C het . 34 +ncRNA_intronic LOC100507412 chrUn_gl000220 123315 123315 G T het . 32 +ncRNA_intronic LOC100507412 chrUn_gl000220 123455 123455 A C het . 37 +ncRNA_intronic LOC100507412 chrUn_gl000220 123601 123601 C G het . 38 +ncRNA_intronic LOC100507412 chrUn_gl000220 123612 123612 C G het . 41 +ncRNA_intronic LOC100507412 chrUn_gl000220 123842 123842 - TTTCTTTC het . 10 +ncRNA_intronic LOC100507412 chrUn_gl000220 123920 123927 TTTCTTCT - het . 49 +ncRNA_intronic LOC100507412 chrUn_gl000220 124002 124002 G T het . 53 +ncRNA_intronic LOC100507412 chrUn_gl000220 124249 124249 - G het . 33 +ncRNA_intronic LOC100507412 chrUn_gl000220 124250 124250 - T het . 32 +ncRNA_intronic LOC100507412 chrUn_gl000220 124695 124698 CTTT - het . 13 +ncRNA_intronic LOC100507412 chrUn_gl000220 125569 125569 - GA het . 14 +ncRNA_intronic LOC100507412 chrUn_gl000220 125603 125604 AG - het . 21 +downstream LOC100507412(dist=196) chrUn_gl000220 126892 126893 TC - het . 24 +downstream LOC100507412(dist=394) chrUn_gl000220 127090 127091 TC - het . 14 +downstream LOC100507412(dist=477) chrUn_gl000220 127173 127182 TCTCTCTCTC - het . 20 +downstream LOC100507412(dist=937) chrUn_gl000220 127633 127633 T C het . 28 +intergenic LOC100507412(dist=1095),MIR6724-2(dist=20912) chrUn_gl000220 127791 127792 TC - het . 20 +intergenic LOC100507412(dist=1217),MIR6724-2(dist=20790) chrUn_gl000220 127913 127914 CT - het . 5 +intergenic LOC100507412(dist=1443),MIR6724-2(dist=20562) chrUn_gl000220 128139 128142 TCTC - het . 20 +intergenic LOC100507412(dist=1602),MIR6724-2(dist=20405) chrUn_gl000220 128298 128299 TC - het . 25 +intergenic LOC100507412(dist=1717),MIR6724-2(dist=20290) chrUn_gl000220 128413 128414 CT - het . 14 +intergenic LOC100507412(dist=1823),MIR6724-2(dist=20184) chrUn_gl000220 128519 128520 CT - het . 13 +intergenic LOC100507412(dist=1879),MIR6724-2(dist=20128) chrUn_gl000220 128575 128576 CT - het . 9 +intergenic LOC100507412(dist=2178),MIR6724-2(dist=19829) chrUn_gl000220 128874 128875 TC - het . 10 +intergenic LOC100507412(dist=2612),MIR6724-2(dist=19391) chrUn_gl000220 129308 129313 CTCTCC - het . 16 +intergenic LOC100507412(dist=2616),MIR6724-2(dist=19391) chrUn_gl000220 129312 129313 CC - het . 13 +intergenic LOC100507412(dist=3521),MIR6724-2(dist=18487) chrUn_gl000220 130217 130217 T - het . 20 +intergenic LOC100507412(dist=4669),MIR6724-2(dist=17338) chrUn_gl000220 131365 131366 TC - het . 30 +intergenic LOC100507412(dist=4875),MIR6724-2(dist=17133) chrUn_gl000220 131571 131571 - TC het . 15 +intergenic LOC100507412(dist=5116),MIR6724-2(dist=16889) chrUn_gl000220 131812 131815 TCTC - het . 13 +intergenic LOC100507412(dist=5145),MIR6724-2(dist=16863) chrUn_gl000220 131841 131841 G C het . 31 +intergenic LOC100507412(dist=5151),MIR6724-2(dist=16857) chrUn_gl000220 131847 131847 G C het . 30 +intergenic LOC100507412(dist=5576),MIR6724-2(dist=16431) chrUn_gl000220 132272 132273 CT - het . 24 +intergenic LOC100507412(dist=5777),MIR6724-2(dist=16231) chrUn_gl000220 132473 132473 T G het . 31 +intergenic LOC100507412(dist=5780),MIR6724-2(dist=16227) chrUn_gl000220 132476 132477 TC - het . 26 +intergenic LOC100507412(dist=5874),MIR6724-2(dist=16133) chrUn_gl000220 132570 132571 TC - het . 24 +intergenic LOC100507412(dist=5999),MIR6724-2(dist=16008) chrUn_gl000220 132695 132696 TC - het . 24 +intergenic LOC100507412(dist=6017),MIR6724-2(dist=15991) chrUn_gl000220 132713 132713 G T het . 29 +intergenic LOC100507412(dist=7568),MIR6724-2(dist=14440) chrUn_gl000220 134264 134264 G T het . 34 +intergenic LOC100507412(dist=7949),MIR6724-2(dist=14059) chrUn_gl000220 134645 134645 C - het . 6 +intergenic LOC100507412(dist=8670),MIR6724-2(dist=13338) chrUn_gl000220 135366 135366 T C het . 49 +intergenic LOC100507412(dist=8939),MIR6724-2(dist=13068) chrUn_gl000220 135635 135636 TC - het . 19 +intergenic LOC100507412(dist=8998),MIR6724-2(dist=13009) chrUn_gl000220 135694 135695 CT - het . 4 +intergenic LOC100507412(dist=9164),MIR6724-2(dist=12843) chrUn_gl000220 135860 135861 TG - het . 27 +intergenic LOC100507412(dist=9482),MIR6724-2(dist=12517) chrUn_gl000220 136178 136187 TCTCTCTCTC - het . 9 +intergenic LOC100507412(dist=9641),MIR6724-2(dist=12367) chrUn_gl000220 136337 136337 - T het . 28 +intergenic LOC100507412(dist=9777),MIR6724-2(dist=12228) chrUn_gl000220 136473 136476 GTGT - het . 4 +intergenic LOC100507412(dist=9879),MIR6724-2(dist=12128) chrUn_gl000220 136575 136576 TC - het . 33 +intergenic LOC100507412(dist=10087),MIR6724-2(dist=11918) chrUn_gl000220 136783 136786 TCTC - het . 22 +intergenic LOC100507412(dist=10205),MIR6724-2(dist=11803) chrUn_gl000220 136901 136901 T G het . 28 +intergenic LOC100507412(dist=10994),MIR6724-2(dist=11014) chrUn_gl000220 137690 137690 C T het . 26 +intergenic LOC100507412(dist=11291),MIR6724-2(dist=10717) chrUn_gl000220 137987 137987 T C het . 25 +intergenic LOC100507412(dist=11300),MIR6724-2(dist=10708) chrUn_gl000220 137996 137996 G C het . 27 +intergenic LOC100507412(dist=11713),MIR6724-2(dist=10293) chrUn_gl000220 138409 138411 TTT - het . 9 +intergenic LOC100507412(dist=11862),MIR6724-2(dist=10146) chrUn_gl000220 138558 138558 T C het . 21 +intergenic LOC100507412(dist=11945),MIR6724-2(dist=10063) chrUn_gl000220 138641 138641 G A het . 31 +intergenic LOC100507412(dist=11987),MIR6724-2(dist=10021) chrUn_gl000220 138683 138683 G A het . 28 +intergenic LOC100507412(dist=13053),MIR6724-2(dist=8955) chrUn_gl000220 139749 139749 T G het . 28 +intergenic LOC100507412(dist=13253),MIR6724-2(dist=8755) chrUn_gl000220 139949 139949 - GAT het . 28 +intergenic LOC100507412(dist=13363),MIR6724-2(dist=8645) chrUn_gl000220 140059 140059 T C het . 33 +intergenic LOC100507412(dist=13460),MIR6724-2(dist=8548) chrUn_gl000220 140156 140156 C T het . 32 +intergenic LOC100507412(dist=13884),MIR6724-2(dist=8124) chrUn_gl000220 140580 140580 A G het . 50 +intergenic LOC100507412(dist=13912),MIR6724-2(dist=8096) chrUn_gl000220 140608 140608 G A het . 58 +intergenic LOC100507412(dist=13983),MIR6724-2(dist=8025) chrUn_gl000220 140679 140679 T G het . 54 +intergenic LOC100507412(dist=14049),MIR6724-2(dist=7959) chrUn_gl000220 140745 140745 C T het . 62 +intergenic LOC100507412(dist=14136),MIR6724-2(dist=7872) chrUn_gl000220 140832 140832 T C het . 61 +intergenic LOC100507412(dist=14238),MIR6724-2(dist=7770) chrUn_gl000220 140934 140934 T G het . 50 +intergenic LOC100507412(dist=14268),MIR6724-2(dist=7740) chrUn_gl000220 140964 140964 C T het . 54 +intergenic LOC100507412(dist=14416),MIR6724-2(dist=7592) chrUn_gl000220 141112 141112 T C het . 53 +intergenic LOC100507412(dist=14418),MIR6724-2(dist=7590) chrUn_gl000220 141114 141114 T C het . 53 +intergenic LOC100507412(dist=14447),MIR6724-2(dist=7561) chrUn_gl000220 141143 141143 A G het . 52 +intergenic LOC100507412(dist=14532),MIR6724-2(dist=7476) chrUn_gl000220 141228 141228 G A het . 57 +intergenic LOC100507412(dist=14585),MIR6724-2(dist=7423) chrUn_gl000220 141281 141281 T G het . 58 +intergenic LOC100507412(dist=14744),MIR6724-2(dist=7264) chrUn_gl000220 141440 141440 C G het . 50 +intergenic LOC100507412(dist=14822),MIR6724-2(dist=7186) chrUn_gl000220 141518 141518 T C het . 44 +intergenic LOC100507412(dist=15318),MIR6724-2(dist=6690) chrUn_gl000220 142014 142014 - GGTA het . 83 +intergenic LOC100507412(dist=15422),MIR6724-2(dist=6584) chrUn_gl000220 142118 142120 CCC - het . 45 +intergenic LOC100507412(dist=15459),MIR6724-2(dist=6549) chrUn_gl000220 142155 142155 C T het . 58 +intergenic LOC100507412(dist=15575),MIR6724-2(dist=6433) chrUn_gl000220 142271 142271 G C het . 67 +intergenic LOC100507412(dist=16026),MIR6724-2(dist=5982) chrUn_gl000220 142722 142722 G A het . 32 +intergenic LOC100507412(dist=16205),MIR6724-2(dist=5800) chrUn_gl000220 142901 142904 CAGG - het . 31 +intergenic LOC100507412(dist=16306),MIR6724-2(dist=5702) chrUn_gl000220 143002 143002 T - het . 34 +intergenic LOC100507412(dist=16466),MIR6724-2(dist=5542) chrUn_gl000220 143162 143162 G A het . 26 +intergenic LOC100507412(dist=17243),MIR6724-2(dist=4765) chrUn_gl000220 143939 143939 C A het . 33 +intergenic LOC100507412(dist=17438),MIR6724-2(dist=4570) chrUn_gl000220 144134 144134 G C het . 33 +intergenic LOC100507412(dist=17725),MIR6724-2(dist=4283) chrUn_gl000220 144421 144421 A G het . 18 +intergenic LOC100507412(dist=17901),MIR6724-2(dist=4107) chrUn_gl000220 144597 144597 T C het . 23 +intergenic LOC100507412(dist=17939),MIR6724-2(dist=4069) chrUn_gl000220 144635 144635 A G het . 27 +intergenic LOC100507412(dist=17949),MIR6724-2(dist=4059) chrUn_gl000220 144645 144645 C A het . 30 +intergenic LOC100507412(dist=18467),MIR6724-2(dist=3534) chrUn_gl000220 145163 145170 ATACATAC - het . 23 +intergenic LOC100507412(dist=18510),MIR6724-2(dist=3498) chrUn_gl000220 145206 145206 - A het . 30 +intergenic LOC100507412(dist=18596),MIR6724-2(dist=3412) chrUn_gl000220 145292 145292 A G het . 40 +intergenic LOC100507412(dist=18672),MIR6724-2(dist=3336) chrUn_gl000220 145368 145368 T C het . 27 +intergenic LOC100507412(dist=18725),MIR6724-2(dist=3283) chrUn_gl000220 145421 145421 C T het . 45 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000221 33680 33680 C T het . 2 +downstream MIR4273(dist=526) chrUn_gl000222 14668 14668 C T het . 3 +intergenic NONE(dist=NONE),LOC100505874(dist=100223) chrUn_gl000224 2280 2280 T C het . 8 +intergenic NONE(dist=NONE),LOC100505874(dist=99054) chrUn_gl000224 3449 3449 C A het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=87633) chrUn_gl000224 14870 14870 C A het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=76496) chrUn_gl000224 26007 26007 G C het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=53882) chrUn_gl000224 48621 48621 A G het . 3 +intergenic NONE(dist=NONE),LOC100505874(dist=53855) chrUn_gl000224 48648 48648 A G het . 4 +intergenic NONE(dist=NONE),LOC100505874(dist=48571) chrUn_gl000224 53932 53932 A T het . 30 +intergenic NONE(dist=NONE),LOC100505874(dist=47328) chrUn_gl000224 55175 55175 G T het . 25 +intergenic NONE(dist=NONE),LOC100505874(dist=47134) chrUn_gl000224 55369 55369 - T het . 8 +intergenic NONE(dist=NONE),LOC100505874(dist=40578) chrUn_gl000224 61925 61925 A T het . 3 +intergenic NONE(dist=NONE),LOC100505874(dist=34349) chrUn_gl000224 68154 68154 A C het . 5 +intergenic NONE(dist=NONE),LOC100505874(dist=18388) chrUn_gl000224 84115 84115 G A het . 5 +intergenic NONE(dist=NONE),LOC100505874(dist=17382) chrUn_gl000224 85121 85121 G A het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=17376) chrUn_gl000224 85127 85127 T C het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=16514) chrUn_gl000224 85989 85989 T A het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=16445) chrUn_gl000224 86058 86058 A G het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=16348) chrUn_gl000224 86155 86155 G C het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=16304) chrUn_gl000224 86199 86199 C T het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=15850) chrUn_gl000224 86653 86653 A T het . 3 +intergenic NONE(dist=NONE),LOC100505874(dist=12567) chrUn_gl000224 89936 89936 A G het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=12547) chrUn_gl000224 89956 89956 C T het . 3 +intergenic NONE(dist=NONE),LOC100505874(dist=11685) chrUn_gl000224 90818 90818 G C het . 5 +intergenic NONE(dist=NONE),LOC100505874(dist=11654) chrUn_gl000224 90849 90849 C T het . 5 +intergenic NONE(dist=NONE),LOC100505874(dist=11649) chrUn_gl000224 90854 90854 G A het . 5 +intergenic NONE(dist=NONE),LOC100505874(dist=11640) chrUn_gl000224 90863 90863 A C het . 6 +intergenic NONE(dist=NONE),LOC100505874(dist=11635) chrUn_gl000224 90868 90868 A G het . 6 +intergenic NONE(dist=NONE),LOC100505874(dist=11627) chrUn_gl000224 90876 90876 C T het . 4 +intergenic NONE(dist=NONE),LOC100505874(dist=9918) chrUn_gl000224 92585 92585 G T het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=9898) chrUn_gl000224 92605 92605 T C het . 4 +intergenic NONE(dist=NONE),LOC100505874(dist=8764) chrUn_gl000224 93739 93739 T C het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=8714) chrUn_gl000224 93789 93789 T A het . 3 +intergenic NONE(dist=NONE),LOC100505874(dist=8692) chrUn_gl000224 93810 93811 GC AG het . 3 +intergenic NONE(dist=NONE),LOC100505874(dist=7049) chrUn_gl000224 95454 95454 G A het . 3 +intergenic NONE(dist=NONE),LOC100505874(dist=6181) chrUn_gl000224 96322 96322 A T het . 4 +intergenic NONE(dist=NONE),LOC100505874(dist=6175) chrUn_gl000224 96328 96328 T C het . 4 +intergenic NONE(dist=NONE),LOC100505874(dist=6162) chrUn_gl000224 96340 96341 TG AA het . 4 +intergenic NONE(dist=NONE),LOC100505874(dist=5393) chrUn_gl000224 97110 97110 T G het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=4405) chrUn_gl000224 98098 98098 A G het . 1 +intergenic NONE(dist=NONE),LOC100505874(dist=4398) chrUn_gl000224 98105 98105 T C het . 1 +intergenic NONE(dist=NONE),LOC100505874(dist=4393) chrUn_gl000224 98110 98110 T C het . 1 +intergenic NONE(dist=NONE),LOC100505874(dist=1906) chrUn_gl000224 100597 100597 A G het . 5 +intergenic NONE(dist=NONE),LOC100505874(dist=1901) chrUn_gl000224 100602 100602 C T het . 5 +intergenic NONE(dist=NONE),LOC100505874(dist=1895) chrUn_gl000224 100608 100608 T A het . 6 +intergenic NONE(dist=NONE),LOC100505874(dist=1893) chrUn_gl000224 100610 100610 G A het . 6 +intergenic NONE(dist=NONE),LOC100505874(dist=1870) chrUn_gl000224 100632 100633 AC GG het . 3 +intergenic NONE(dist=NONE),LOC100505874(dist=1863) chrUn_gl000224 100640 100640 A G het . 3 +intergenic NONE(dist=NONE),LOC100505874(dist=1852) chrUn_gl000224 100651 100651 T G het . 2 +intergenic NONE(dist=NONE),LOC100505874(dist=1824) chrUn_gl000224 100679 100679 C A het . 4 +intergenic NONE(dist=NONE),LOC100505874(dist=1803) chrUn_gl000224 100700 100700 C T het . 3 +intergenic NONE(dist=NONE),LOC100505874(dist=1064) chrUn_gl000224 101439 101439 T A het . 2 +upstream LOC100505874(dist=344) chrUn_gl000224 102159 102159 A T het . 2 +upstream LOC100505874(dist=337) chrUn_gl000224 102166 102166 G A het . 2 +upstream LOC100505874(dist=96) chrUn_gl000224 102407 102407 T C het . 4 +upstream LOC100505874(dist=86) chrUn_gl000224 102417 102417 A C het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 102637 102638 CT TA het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 102649 102649 A G het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 102651 102651 C T het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 102735 102735 C A het . 4 +ncRNA_intronic LOC100505874 chrUn_gl000224 102753 102753 C T het . 4 +ncRNA_intronic LOC100505874 chrUn_gl000224 102779 102779 A G het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 102785 102785 C A het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 103350 103350 G A het . 4 +ncRNA_intronic LOC100505874 chrUn_gl000224 103356 103356 A C het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 103383 103383 G A het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 105081 105081 C T het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 105121 105121 A G het . 2 +ncRNA_intronic LOC100505874 chrUn_gl000224 106460 106460 G A het . 2 +ncRNA_intronic LOC100505874 chrUn_gl000224 107382 107382 C T het . 4 +ncRNA_intronic LOC100505874 chrUn_gl000224 107847 107847 T G het . 2 +ncRNA_intronic LOC100505874 chrUn_gl000224 107853 107853 G T het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 108076 108076 G A het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 108088 108088 T C het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 108097 108097 G A het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 108527 108527 C T het . 1 +ncRNA_intronic LOC100505874 chrUn_gl000224 108533 108533 T C het . 2 +ncRNA_intronic LOC100505874 chrUn_gl000224 108559 108562 ACAG - het . 2 +ncRNA_intronic LOC100505874 chrUn_gl000224 108579 108579 C G het . 1 +ncRNA_intronic LOC100505874 chrUn_gl000224 108610 108610 A G het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 108613 108613 C T het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 108619 108619 A C het . 2 +ncRNA_intronic LOC100505874 chrUn_gl000224 108646 108646 G A het . 2 +ncRNA_intronic LOC100505874 chrUn_gl000224 108670 108670 G T het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 108689 108689 G C het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 108712 108712 A T het . 3 +ncRNA_intronic LOC100505874 chrUn_gl000224 108797 108797 T C het . 2 +ncRNA_intronic LOC100505874 chrUn_gl000224 108799 108799 G T het . 2 +ncRNA_intronic LOC100505874 chrUn_gl000224 108832 108832 T A het . 2 +ncRNA_intronic LOC100505874 chrUn_gl000224 108842 108842 T A het . 2 +ncRNA_exonic LOC100505874 chrUn_gl000224 108998 108998 T A het . 1 +ncRNA_exonic LOC100505874 chrUn_gl000224 109038 109038 A T het . 3 +ncRNA_exonic LOC100505874 chrUn_gl000224 109047 109048 AT GC het . 3 +ncRNA_exonic LOC100505874 chrUn_gl000224 109092 109092 T C het . 3 +downstream LOC100505874(dist=152) chrUn_gl000224 110420 110420 C G het . 2 +intergenic LOC100505874(dist=49363),NONE(dist=NONE) chrUn_gl000224 159631 159631 G T het . 2 +intergenic LOC100505874(dist=51756),NONE(dist=NONE) chrUn_gl000224 162024 162024 C T het . 2 +intergenic LOC100505874(dist=52069),NONE(dist=NONE) chrUn_gl000224 162337 162337 C G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1039 1039 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1043 1043 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1063 1063 G C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1074 1074 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1077 1077 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1090 1090 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1094 1094 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1099 1099 T G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1147 1147 A G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1150 1150 A T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1242 1242 T G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1252 1252 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1259 1259 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1315 1316 TT CG het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1374 1374 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1391 1391 T C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1400 1400 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1407 1407 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1414 1414 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1549 1549 C T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1554 1554 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1577 1577 A G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1591 1591 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1597 1597 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1602 1602 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1605 1605 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1726 1727 TT CC het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1772 1772 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1776 1776 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1795 1795 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1798 1798 T G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1803 1803 C A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 1805 1805 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8230 8230 G C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8241 8241 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8254 8254 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8269 8269 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8298 8298 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8305 8305 T C het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8340 8340 C T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8370 8370 T C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8386 8386 C G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8401 8401 A C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8426 8426 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8436 8436 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8470 8470 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8487 8487 A C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8490 8490 A C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8555 8555 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8565 8565 T G het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8609 8609 T A het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8644 8644 A G het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8654 8654 A G het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8683 8683 A G het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8686 8686 G A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8751 8751 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8761 8761 G C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8920 8920 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 8926 8926 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9056 9056 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9068 9068 T G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9087 9087 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9093 9093 A C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9094 9094 - T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9144 9144 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9302 9302 G T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9310 9310 G C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9341 9341 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9373 9373 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9381 9381 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9402 9402 G A het . 20 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9429 9429 T G het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9436 9436 T C het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9479 9479 A T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9557 9557 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9629 9629 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 9657 9658 AC GT het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 17082 17082 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23328 23328 A G het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23416 23416 A G het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23422 23422 A T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23482 23482 G A het . 30 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23514 23514 C T het . 20 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23548 23548 C G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23601 23601 C T het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23621 23622 AG CC het . 30 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23650 23650 A G het . 27 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23661 23661 G A het . 28 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23682 23682 G A het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23713 23713 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23730 23730 A G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23796 23796 T G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 23812 23812 C A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 29942 29942 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 29955 29955 G C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 29958 29958 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 29964 29964 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 29978 29978 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 29992 29992 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30004 30004 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30005 30005 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30015 30016 CA TG het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30016 30016 A G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30052 30052 A G het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30088 30088 A G het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30160 30160 A C het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30171 30171 A G het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30206 30206 G A het . 27 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30282 30282 T C het . 30 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30302 30302 C A het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30333 30333 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30353 30353 T C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30430 30430 C T het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30450 30450 C T het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30463 30463 A C het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30527 30527 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30594 30594 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30852 30852 A C het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30855 30855 C A het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 30875 30875 A C het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31028 31028 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31031 31031 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31039 31039 C A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31106 31106 G T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31107 31107 C A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31116 31116 A C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31121 31121 G A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31132 31133 TG CC het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31144 31144 C T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31202 31202 A G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31219 31219 C T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31221 31221 - A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31246 31246 A G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31249 31249 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31253 31253 C G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31274 31274 A G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31292 31292 C A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31299 31299 T C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31349 31349 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 31370 31370 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36148 36148 T C het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36291 36291 C G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36341 36341 T G het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36347 36347 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36352 36352 A C het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36357 36357 C T het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36385 36385 G A het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36387 36387 T C het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36395 36395 T C het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36417 36417 C A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36432 36432 T C het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36443 36443 C T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36456 36456 A G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36463 36463 C T het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36486 36486 G A het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36491 36491 C T het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36537 36537 A G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36596 36596 G A het . 20 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36598 36598 A C het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36627 36627 C T het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36646 36646 C T het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36647 36647 G A het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36660 36660 C T het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36666 36666 C A het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36679 36679 G A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36690 36690 C T het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36710 36710 G A het . 20 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36782 36782 C G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36810 36810 G A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36854 36854 T C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36859 36859 C A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36860 36860 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36863 36863 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36899 36900 TT CG het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36914 36914 A G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 36954 36954 C A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37006 37006 A C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37034 37034 G A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37060 37060 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37061 37061 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37073 37073 C G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37099 37099 T C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37110 37110 T C het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37184 37184 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37193 37193 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37329 37329 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37357 37357 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37364 37364 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37369 37369 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37377 37377 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37418 37419 AA CT het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37443 37443 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37451 37451 A T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37460 37460 C G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37463 37463 T C het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37473 37473 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37496 37496 G A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37514 37514 G A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37554 37554 G A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37589 37589 T C het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37605 37605 C T het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37636 37636 C G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37666 37666 T A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37672 37672 C A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37711 37711 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37721 37721 T C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37765 37765 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37890 37890 G T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 37907 37907 T G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42655 42655 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42728 42728 A G het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42752 42752 G A het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42766 42767 CA TG het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42767 42767 A G het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42785 42785 T C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42801 42802 TG CA het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42813 42813 T C het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42827 42827 A C het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42846 42846 G C het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42861 42861 A G het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42895 42895 C T het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42927 42927 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42964 42964 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42991 42991 C A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 42994 42994 G C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43003 43003 T A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43020 43020 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43040 43040 T C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43054 43054 C T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43076 43076 G T het . 26 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43088 43088 C T het . 28 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43108 43108 C A het . 28 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43120 43120 C T het . 29 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43124 43124 C A het . 29 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43137 43137 A G het . 26 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43150 43150 A G het . 20 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43165 43165 G C het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43202 43202 C T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43229 43229 A C het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43234 43234 A T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43245 43245 G A het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43255 43255 C G het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43265 43265 G A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43285 43285 A T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43290 43290 A G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43310 43311 TT GG het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43326 43326 C T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43338 43338 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43362 43362 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43364 43364 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43392 43392 C T het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43395 43395 G A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43413 43413 G - het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43414 43414 G A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43433 43433 G A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43443 43443 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43460 43460 G C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43471 43471 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43617 43617 A G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43634 43634 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43674 43674 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43701 43701 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43737 43737 C G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43756 43756 A G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43763 43763 T C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43783 43783 G A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43789 43789 A T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43799 43799 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43806 43807 GA AG het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43827 43827 G A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43835 43835 T G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43853 43853 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43869 43869 T G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43880 43880 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43918 43918 T G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43921 43921 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43924 43924 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43929 43929 T G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43931 43931 T C het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43935 43935 A C het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43937 43937 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43940 43940 A T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43955 43956 CA TG het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43961 43961 C G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43981 43981 G C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43983 43983 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43987 43987 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 43999 44000 AA TG het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 44012 44012 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 44023 44023 C G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 44053 44053 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 44087 44087 A G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 44088 44088 G T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 44114 44114 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 44118 44118 G C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 44196 44196 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 44219 44219 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 47426 47426 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 47437 47437 C A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 48781 48782 AG TA het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 48796 48796 T G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 48810 48810 T C het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52734 52734 - AC het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52824 52824 G A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52830 52830 C T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52843 52843 T A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52844 52844 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52878 52878 T G het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52911 52911 T C het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52943 52943 A G het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52962 52962 C T het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52975 52975 A C het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52978 52978 T C het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 52993 52993 A G het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53015 53015 G A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53022 53022 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53080 53080 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53089 53091 CAC TGA het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53111 53111 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53116 53116 C A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53127 53127 A C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53155 53155 C T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53158 53158 T G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53177 53177 C T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53216 53216 C G het . 25 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53257 53257 G C het . 27 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53321 53321 A C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53329 53329 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53444 53444 C T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53446 53446 T C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53472 53472 G T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53492 53492 C T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53498 53498 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53520 53520 T G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53525 53525 G A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53547 53547 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53549 53549 T C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53551 53551 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53554 53554 T C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53556 53556 G T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53560 53560 C G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53563 53563 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53639 53639 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53645 53645 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53649 53649 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53650 53650 G T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53656 53656 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53687 53687 C A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53697 53697 A G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53706 53706 G T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53749 53749 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53777 53777 C G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53786 53786 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53845 53845 C A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53848 53848 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53865 53865 C T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 53927 53927 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54004 54004 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54038 54038 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54052 54052 T A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54053 54053 C T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54063 54063 G T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54068 54068 G C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54075 54075 C T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54255 54255 C A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54293 54293 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54339 54339 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54358 54358 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54363 54363 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 54373 54373 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 57395 57395 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 57419 57419 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 57949 57949 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 57990 57990 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 57998 57998 T C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58017 58017 C T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58044 58044 A G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58060 58060 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58065 58065 C G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58079 58079 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58155 58155 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58168 58168 C A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58202 58202 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58231 58231 T C het . 20 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58256 58256 T G het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58334 58334 C A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58347 58347 A C het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58359 58359 - AC het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58380 58380 T C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58393 58393 T C het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58420 58421 CG GC het . 24 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58421 58421 G A het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58427 58427 G C het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58431 58431 T G het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58438 58438 G A het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58449 58449 C A het . 24 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58458 58458 C T het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58465 58465 G T het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58470 58470 G A het . 20 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58480 58480 G A het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58483 58483 A T het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58491 58491 T C het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58493 58494 CA TG het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58541 58541 C T het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58554 58554 A C het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58563 58564 CA TG het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58564 58564 A G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58567 58567 C T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58587 58587 C T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58589 58589 T C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58627 58627 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58629 58629 C A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58633 58633 A G het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58642 58642 A - het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58642 58642 A G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58644 58644 A - het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58644 58644 A C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58647 58647 - TT het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58669 58669 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58674 58674 C T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58682 58682 G T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58684 58684 G A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58686 58686 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58695 58695 T G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58708 58708 T G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58717 58717 T A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58752 58752 A G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58757 58757 T G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58791 58792 TA CG het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58821 58821 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58840 58840 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58849 58849 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 58989 58989 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59028 59028 A G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59036 59036 T C het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59042 59042 G A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59052 59052 T C het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59063 59063 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59072 59072 G A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59096 59096 C G het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59098 59098 G T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59146 59146 G T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59160 59160 T G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59228 59228 G A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59235 59235 T C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59237 59237 G C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59250 59250 C A het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59271 59272 TG CA het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59290 59290 T C het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59299 59299 C T het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59347 59347 T G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59363 59363 G A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59370 59370 T A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59373 59373 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59378 59378 G T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59386 59386 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59389 59389 A G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59390 59391 AC GG het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59416 59416 C G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59425 59425 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59436 59436 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59450 59450 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 59915 59915 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63134 63134 C G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63604 63604 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63617 63617 C G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63624 63624 A T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63652 63652 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63656 63656 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63687 63687 G C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63708 63708 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63721 63721 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63724 63724 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63727 63727 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63728 63728 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63766 63766 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63814 63814 G C het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63875 63875 G C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63920 63920 A G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63924 63924 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63946 63946 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63948 63948 G C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63962 63962 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63978 63978 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 63985 63985 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64027 64027 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64036 64036 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64070 64070 T C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64097 64098 CA AG het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64098 64098 A G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64100 64100 T G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64135 64135 A G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64144 64144 A G het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64154 64154 C G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64160 64160 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64187 64187 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64190 64190 G A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64202 64202 C T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64237 64237 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64264 64264 G C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64268 64268 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64273 64274 CA TG het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64274 64274 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64281 64281 C T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64294 64294 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64301 64301 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64302 64302 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64328 64328 C A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64336 64337 GT CA het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64350 64350 C G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64390 64390 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64393 64393 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64435 64435 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64464 64464 T G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64469 64470 TG CA het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64496 64496 G A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64520 64521 AG CC het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64532 64532 T C het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64556 64556 G T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64580 64580 T G het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64593 64593 C T het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64607 64607 G A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64639 64639 T A het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64642 64642 C T het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64643 64643 G A het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64646 64646 G A het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64656 64656 C T het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64676 64676 G C het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64677 64677 C T het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64684 64684 C T het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64688 64688 C T het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64695 64696 CC TG het . 27 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64714 64714 G A het . 27 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64715 64715 C T het . 26 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64730 64730 C A het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64754 64754 G T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64844 64844 G T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64851 64851 A C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64862 64862 G T het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64876 64876 A T het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64949 64949 G A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64953 64953 C T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64955 64955 T A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64958 64958 G C het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64979 64979 T C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 64997 64997 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 65062 65062 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 65098 65098 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 65110 65111 CA GC het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 65156 65156 G C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 65174 65174 C G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 71816 71816 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 71911 71911 T A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 71934 71934 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 71966 71966 A G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72003 72003 T C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72057 72057 C T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72073 72073 A T het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72104 72104 A G het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72110 72110 C T het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72141 72141 C T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72151 72151 A G het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72178 72178 A G het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72184 72184 T G het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72249 72249 A G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72267 72267 C T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72271 72271 A C het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72294 72294 C A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72300 72300 G A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72315 72315 C G het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72323 72323 T C het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72330 72330 T C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72358 72358 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72365 72365 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72384 72384 C T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72385 72385 G A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72417 72417 C T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72420 72420 C T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72479 72480 TG CA het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72486 72486 T G het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72504 72504 A G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72506 72506 A G het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72534 72534 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72555 72555 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72582 72582 A G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72590 72590 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72608 72608 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72639 72639 G A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72657 72657 G A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72677 72677 A C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72683 72683 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72689 72689 C T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72703 72703 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72731 72731 C T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72743 72743 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72745 72745 T C het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72779 72779 C T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72810 72810 A G het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72828 72828 A G het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72841 72841 A C het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72879 72879 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72894 72894 G C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72910 72911 TG CA het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72928 72928 A T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72935 72935 C A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72962 72962 C G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 72995 72995 T G het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73063 73063 A T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73091 73091 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73103 73103 T C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73126 73126 C G het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73135 73135 C A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73136 73136 G A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73142 73142 C T het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73148 73148 G A het . 20 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73150 73150 T A het . 20 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73157 73157 G A het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73158 73158 A T het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73168 73168 G A het . 26 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73177 73177 G A het . 24 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73182 73182 C T het . 25 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73188 73188 T C het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73192 73192 T C het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73205 73205 G C het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73208 73208 A G het . 25 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73229 73229 A C het . 26 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73242 73242 G A het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73246 73246 A G het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73259 73259 C T het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73276 73277 AA GG het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73281 73282 GC AG het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73282 73282 C G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73291 73291 G A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73314 73314 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73317 73317 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73318 73318 G A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73329 73329 C - het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 73358 73358 A C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 77741 77741 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 78642 78642 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 78659 78659 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 78746 78746 C G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 78811 78811 A G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 78878 78878 G C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 78889 78889 G T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 78912 78912 C T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 78957 78957 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 78972 78972 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 78976 78976 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79009 79009 G A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79037 79037 T C het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79055 79055 T C het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79089 79089 C T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79097 79097 G C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79118 79118 C G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79145 79145 C A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79297 79297 T C het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79301 79301 G A het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79311 79312 CG TA het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79334 79334 T C het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79338 79338 A G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79342 79342 C G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79419 79419 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79470 79470 G T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79487 79487 A C het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79496 79496 T C het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79508 79508 T C het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79523 79523 C T het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79533 79533 C T het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79554 79554 A G het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79562 79562 C T het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79570 79570 T C het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79588 79588 G A het . 20 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79607 79607 G T het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79632 79632 C T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79701 79701 T G het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79710 79710 A G het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79763 79763 C T het . 29 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79765 79765 A G het . 30 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79768 79769 CG TT het . 29 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79769 79769 G A het . 29 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79774 79774 C G het . 31 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79794 79794 G A het . 27 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79795 79795 C G het . 24 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79825 79825 T C het . 28 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79846 79846 G A het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79848 79848 C T het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79904 79904 C T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79942 79943 CA TG het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79958 79958 A G het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79968 79968 G A het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 79977 79977 C T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80003 80003 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80030 80030 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80076 80076 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80098 80099 TG AA het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80109 80109 G C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80120 80120 A T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80129 80129 A C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80150 80150 T C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80235 80235 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80242 80243 TT CG het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80289 80289 C G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80291 80291 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80295 80295 T G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 80444 80444 A T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 82198 82198 A G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 85660 85660 T C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89234 89234 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89249 89250 GA CC het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89335 89335 A C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89343 89343 C A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89346 89346 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89435 89435 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89440 89440 A G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89452 89452 A G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89460 89460 A G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89464 89464 G A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89522 89522 T G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89539 89539 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89565 89565 G C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89575 89575 C G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89582 89582 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89586 89586 G C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89590 89591 TG CA het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89596 89596 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89599 89599 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89685 89685 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89696 89696 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89712 89712 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89720 89720 A G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89730 89730 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89763 89763 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89772 89772 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89773 89774 GC CT het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89782 89782 A G het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89788 89788 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89792 89793 CA TG het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89810 89810 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89926 89927 AT GC het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89927 89927 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89930 89930 A T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89940 89940 T G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89954 89954 C A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 89966 89967 TG CT het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90022 90022 G A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90025 90025 A T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90031 90031 C T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90041 90041 C T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90044 90044 A G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90049 90049 T G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90070 90070 G T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90080 90080 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90134 90134 T C het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90193 90193 C A het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90195 90195 C T het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90210 90210 C T het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90252 90252 G A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90254 90254 A G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90263 90263 T G het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90269 90269 G A het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90272 90272 G T het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90277 90279 TCC - het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90281 90281 A G het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90283 90283 T A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90290 90290 C G het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90297 90297 C T het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90324 90324 G A het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90351 90351 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90421 90421 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90425 90426 CA TG het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90426 90426 A C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90521 90521 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90561 90561 G T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90609 90609 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 90631 90631 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104214 104214 G T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104216 104216 G A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104222 104222 C A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104232 104233 CA GG het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104245 104245 G C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104248 104248 T C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104251 104251 C T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104255 104255 T A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104259 104259 G A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104270 104270 C T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104271 104271 G A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104274 104274 C A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104277 104277 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104333 104333 T G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104340 104340 C G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104853 104853 C G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 104866 104866 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 105071 105071 C A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 105079 105079 T A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 105081 105081 A T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 105089 105089 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 105098 105098 C A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 105102 105102 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 105107 105107 G T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 105126 105126 - A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 114694 114694 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 114730 114730 G T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 114733 114733 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 114742 114742 G C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 114858 114858 T C het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 114868 114868 C T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 114871 114871 G A het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 114876 114876 G A het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 135568 135568 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 135573 135573 C A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 135587 135588 GG TT het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 135591 135591 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 135593 135593 C G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 135621 135621 G T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136126 136127 TG GC het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136132 136132 C T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136155 136155 C G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136158 136158 A C het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136202 136202 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136314 136314 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136373 136373 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136379 136379 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136385 136385 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136389 136389 A T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136392 136392 C G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136408 136408 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136411 136411 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136522 136522 A G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136539 136539 C T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136543 136543 A C het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136667 136667 T G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136701 136701 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136708 136708 G A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136771 136771 C A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136801 136801 G A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136838 136838 G A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136861 136861 C T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136962 136962 T G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136966 136966 G A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136969 136969 C A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 136992 136992 G C het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137000 137000 C G het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137001 137001 G A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137012 137012 G A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137014 137015 TG CT het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137018 137018 C A het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137020 137021 CG AA het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137023 137023 C T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137035 137035 G A het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137039 137039 G T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137042 137042 G T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137048 137048 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137052 137052 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137062 137062 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 137069 137069 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 198962 198962 G C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000225 198970 198970 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000226 145 145 G C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000226 201 201 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 2588 2588 T A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 3471 3471 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 3485 3485 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 3774 3774 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 4389 4392 GAAA - het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 4462 4462 G A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 4554 4554 G T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 4564 4564 - TT het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 12461 12461 A G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 12469 12469 T C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 12677 12677 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13073 13073 C A het . 37 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13084 13084 G A het . 39 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13112 13112 G T het . 36 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13120 13120 A C het . 29 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13220 13220 G T het . 25 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13224 13224 A C het . 25 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13244 13244 A G het . 25 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13259 13259 G A het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13316 13316 A T het . 36 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13351 13351 C T het . 41 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13352 13352 G T het . 43 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13353 13353 G T het . 35 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13354 13354 C A het . 43 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13357 13357 T C het . 41 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13396 13396 C A het . 33 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13421 13421 A G het . 30 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13431 13431 G A het . 34 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13442 13442 T C het . 37 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13457 13457 G C het . 33 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13489 13489 T A het . 27 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13587 13587 T - het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13746 13746 G T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 13981 13981 C T het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14003 14003 G C het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14064 14064 G A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14154 14154 C T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14222 14222 A G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14341 14341 A G het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14363 14363 T C het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14365 14365 G A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14383 14383 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14784 14784 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14896 14896 T C het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14956 14956 T G het . 25 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 14978 14978 T C het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 15014 15014 G C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 17044 17044 T G het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 17290 17290 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 17319 17319 G A het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 17321 17321 C T het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 17346 17346 C T het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 17913 17913 C A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 17938 17938 G A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000229 17943 17943 T G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 2575 2575 A G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 2903 2903 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 6467 6467 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 6486 6486 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 7682 7682 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 11273 11273 G T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 11869 11869 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 11961 11961 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 12157 12157 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 12164 12164 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 12166 12166 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 12664 12664 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 12810 12810 T A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 14697 14697 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 17686 17686 A G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 17698 17698 - G het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 17701 17701 - AA het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 17909 17909 A T het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 17993 17993 A T het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18077 18077 G T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18141 18141 C A het . 35 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18270 18270 G A het . 29 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18278 18278 A C het . 25 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18347 18347 A T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18397 18397 A C het . 26 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18404 18404 A - het . 27 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18463 18463 G C het . 24 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18478 18478 C A het . 24 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18493 18493 T C het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18571 18571 C T het . 37 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18582 18582 G A het . 31 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18654 18654 T A het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18813 18813 T C het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18842 18842 G T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18862 18862 T C het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18886 18886 T A het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18889 18890 CA TG het . 25 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18890 18890 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18912 18912 A G het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18932 18932 T C het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18937 18937 G T het . 23 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18941 18941 T G het . 24 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18944 18944 T C het . 24 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 18985 18985 T A het . 22 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19017 19017 T A het . 21 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19082 19082 T C het . 19 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19124 19124 G A het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19142 19142 C T het . 20 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19396 19396 C A het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19692 19692 A G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19697 19697 A T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19820 19820 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19829 19829 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19881 19881 G A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19894 19894 C T het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19937 19937 G T het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 19967 19967 C T het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 21034 21034 A T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 22079 22079 C A het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 22083 22083 A T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 22145 22145 C T het . 30 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 22354 22354 T C het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 22364 22364 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 22482 22482 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 22505 22505 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000230 23299 23299 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 9351 9351 C G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 14227 14227 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 14239 14239 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 14274 14274 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 14893 14893 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 14926 14926 G C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 15380 15380 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 15560 15560 A G het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 15635 15635 A G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 15687 15687 G A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 15709 15709 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 18068 18068 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 18127 18127 A G het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 20698 20698 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 22448 22448 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 22481 22481 - A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 22520 22520 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 24498 24498 T A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 24504 24504 G - het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 24526 24526 G C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 24537 24538 GA CC het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 24545 24545 A C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 24973 24973 A C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 25312 25313 CA TG het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000231 25360 25360 G T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 1012 1012 G C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 1215 1215 T A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 1276 1276 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 3778 3778 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 3784 3784 C A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 5133 5133 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 5261 5261 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 5263 5263 T A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 5885 5885 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 6948 6948 C A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 8046 8046 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 8058 8058 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 8389 8389 A G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 14347 14347 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 14368 14368 A C het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 14425 14425 A G het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 14549 14549 A C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 14607 14607 T C het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 14678 14678 G A het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 14824 14827 ATAG - het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 19407 19407 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 20896 20896 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 20907 20907 A T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 21512 21512 C A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 21520 21520 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 28657 28657 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 28674 28674 A T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 28683 28683 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 30277 30277 C T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 30282 30282 G T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 30293 30293 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 32290 32290 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 32299 32299 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 32321 32321 G A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 32795 32795 T C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 32802 32802 A T het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 32950 32950 T - het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 32987 32987 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 35084 35084 T A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 35094 35094 C A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 35114 35114 G C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 35388 35388 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 35402 35402 T A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 35408 35408 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000232 36200 36201 GT AC het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000233 7417 7417 T - het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000233 7440 7440 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000233 16917 16917 C T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000233 19130 19130 T A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 2978 2978 T A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3004 3004 A C het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3027 3027 G A het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3032 3032 A G het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3209 3209 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3213 3213 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3217 3217 G C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3219 3219 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3242 3242 C T het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3351 3351 G A het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3369 3370 TG CA het . 14 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3437 3437 C A het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 3468 3468 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 4527 4527 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 4539 4539 T G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 4634 4634 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 5407 5407 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 5730 5731 TG CA het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 6940 6940 G A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 10973 10973 A C het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 10999 10999 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 11007 11007 - GA het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 11366 11366 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 14811 14811 G A het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 14817 14817 G A het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 15308 15308 T G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 16178 16178 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 16202 16202 A G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 16217 16217 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 16221 16221 C G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 20148 20148 C A het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 22291 22291 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 22372 22372 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 22458 22458 G C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 22491 22491 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 24069 24069 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 24113 24113 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 24659 24659 A G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 26267 26267 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 33898 33898 T A het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 34468 34468 C T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 36182 36182 A G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 36185 36185 T A het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 36362 36362 G A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 36680 36680 T C het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 38428 38428 T G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 40012 40012 A G het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 40037 40037 G T het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 40145 40145 A G het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 40162 40162 T C het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 40187 40187 A G het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 40208 40208 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 40464 40464 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000234 40473 40473 A C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1122 1124 CCA - het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1126 1126 C G het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1130 1130 G A het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1141 1141 G T het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1143 1143 C A het . 1 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1526 1526 T C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1618 1618 C G het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1693 1693 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1702 1702 G T het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1716 1716 C T het . 15 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1730 1730 C G het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1733 1733 G A het . 16 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1743 1743 T A het . 17 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1849 1849 C G het . 13 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1882 1882 A G het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1914 1914 T G het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 1929 1929 A T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2098 2098 G C het . 4 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2115 2115 C T het . 5 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2129 2129 G T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2148 2148 - GA het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2152 2153 GT - het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2184 2184 C G het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2193 2193 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2233 2233 C T het . 11 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2234 2234 C T het . 10 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2238 2238 G A het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2239 2240 TG CA het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2243 2243 G A het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2247 2248 AG GC het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2256 2256 C T het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2264 2264 T C het . 9 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2272 2272 G A het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2296 2296 C T het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 2344 2344 C T het . 8 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000235 14487 14487 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 827 827 T C het . 33 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 830 830 G T het . 33 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 859 859 C T het . 50 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 871 871 C T het . 56 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 880 881 CA TG het . 51 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 887 887 G T het . 45 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 899 899 T G het . 38 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 914 914 A G het . 30 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 931 931 T A het . 25 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 2319 2319 C T het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 2335 2335 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 2366 2366 A C het . 7 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 2420 2420 A C het . 12 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 2450 2450 T C het . 24 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 2479 2479 G A het . 32 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 2482 2482 T C het . 32 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 2522 2523 CA TG het . 18 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 10920 10920 T C het . 2 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 11127 11127 - A het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 11129 11129 - TA het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 11167 11168 TT - het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 11683 11683 C T het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 11718 11718 T C het . 3 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 12409 12409 G A het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000237 12454 12454 T C het . 6 +intergenic NONE(dist=NONE),NONE(dist=NONE) chrUn_gl000238 18284 18284 T C het . 3 +intergenic NONE(dist=NONE),FRG1CP(dist=14175) chrUn_gl000241 564 564 C A het . 1 +intergenic NONE(dist=NONE),FRG1CP(dist=12338) chrUn_gl000241 2401 2401 G A het . 3 +intergenic NONE(dist=NONE),FRG1CP(dist=7961) chrUn_gl000241 6778 6778 - G het . 2 +intergenic NONE(dist=NONE),FRG1CP(dist=7939) chrUn_gl000241 6800 6800 T G het . 2 +intergenic NONE(dist=NONE),FRG1CP(dist=5135) chrUn_gl000241 9604 9604 G A het . 3 +intergenic NONE(dist=NONE),FRG1CP(dist=4819) chrUn_gl000241 9920 9920 G A het . 2 +intergenic NONE(dist=NONE),FRG1CP(dist=4813) chrUn_gl000241 9926 9926 G A het . 2 +intergenic NONE(dist=NONE),FRG1CP(dist=4075) chrUn_gl000241 10664 10664 G C het . 5 +ncRNA_intronic FRG1CP chrUn_gl000241 14926 14926 T C het . 5 +ncRNA_intronic FRG1CP chrUn_gl000241 15991 15991 C T het . 23 +ncRNA_intronic FRG1CP chrUn_gl000241 15999 15999 G A het . 24 +ncRNA_exonic FRG1CP,FRG1FP chrUn_gl000241 16031 16032 AG CT het . 32 +ncRNA_exonic FRG1CP,FRG1FP chrUn_gl000241 16037 16037 G A het . 31 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 16253 16253 C G het . 17 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 16258 16258 T C het . 16 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 17108 17108 A C het . 22 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 18749 18749 G T het . 3 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 18752 18752 C T het . 3 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 19588 19588 T G het . 3 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 20253 20253 G A het . 6 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 20280 20280 T A het . 12 +ncRNA_exonic FRG1CP,FRG1FP chrUn_gl000241 22733 22733 T A het . 22 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 23898 23898 T C het . 2 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 23969 23969 A G het . 2 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 23973 23973 G A het . 2 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 24541 24541 A T het . 9 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 24550 24550 A G het . 10 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 25701 25701 A G het . 19 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 25705 25705 T G het . 20 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 30602 30602 G A het . 4 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 31269 31269 A C het . 5 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 31290 31290 A C het . 6 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 31303 31303 G A het . 5 +ncRNA_exonic FRG1CP,FRG1FP chrUn_gl000241 34549 34549 T G het . 9 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 34718 34718 T C het . 7 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 35594 35594 C A het . 3 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 35917 35917 A G het . 4 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 36393 36393 A G het . 3 +ncRNA_intronic FRG1CP,FRG1FP chrUn_gl000241 36587 36587 G C het . 9 +intergenic FRG1FP(dist=4443),NONE(dist=NONE) chrUn_gl000241 41400 41400 G C het . 2