Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 37379600 37379600 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 g.chr5:37379600C>T c.35C>T c.(34-36)tCa>tTa p.S12L BLCA 5 37379634 37379634 + Silent SNP C C T TCGA-DK-A6AV-01A-12D-A30E-08 TCGA-DK-A6AV-10A-01D-A30H-08 g.chr5:37379634C>T c.69C>T c.(67-69)gtC>gtT p.V23V BLCA 5 37379640 37379640 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr5:37379640G>A c.75G>A c.(73-75)atG>atA p.M25I BLCA 5 37381716 37381716 + Missense_Mutation SNP G G A TCGA-E7-A6ME-01A-22D-A32B-08 TCGA-E7-A6ME-10B-01D-A329-08 g.chr5:37381716G>A c.104G>A c.(103-105)cGc>cAc p.R35H BLCA 5 37516654 37516654 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr5:37516654C>T c.879C>T c.(877-879)ccC>ccT p.P293P BLCA 5 37605251 37605251 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr5:37605251C>T c.1003C>T c.(1003-1005)Ccc>Tcc p.P335S BLCA 5 37703084 37703084 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr5:37703084C>G c.1311C>G c.(1309-1311)ctC>ctG p.L437L BLCA 5 37703110 37703110 + Missense_Mutation SNP G G A TCGA-ZF-AA52-01A-12D-A391-08 TCGA-ZF-AA52-10A-01D-A394-08 g.chr5:37703110G>A c.1337G>A c.(1336-1338)aGa>aAa p.R446K BLCA 5 37725073 37725073 + Silent SNP G G T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 g.chr5:37725073G>T c.1635G>T c.(1633-1635)cgG>cgT p.R545R BLCA 5 37727078 37727078 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 g.chr5:37727078G>A c.1808G>A c.(1807-1809)cGg>cAg p.R603Q BLCA 5 37727103 37727103 + Missense_Mutation SNP A A T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr5:37727103A>T c.1833A>T c.(1831-1833)aaA>aaT p.K611N BRCA 5 37379655 37379655 + Splice_Site SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr5:37379655C>T c.90C>T c.(88-90)ttC>ttT p.F30F BRCA 5 37605229 37605229 + Silent SNP G G A TCGA-E2-A14Z-01A-11D-A10Y-09 TCGA-E2-A14Z-10A-01D-A110-09 g.chr5:37605229G>A c.981G>A c.(979-981)acG>acA p.T327T BRCA 5 37701206 37701206 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr5:37701206A>C c.1239A>C c.(1237-1239)ccA>ccC p.P413P CESC 5 37392223 37392223 + Splice_Site SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 g.chr5:37392223G>T c.e4+1 CESC 5 37701239 37701239 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr5:37701239C>G c.1272C>G c.(1270-1272)ttC>ttG p.F424L CESC 5 37727020 37727020 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 g.chr5:37727020C>G c.1750C>G c.(1750-1752)Ctc>Gtc p.L584V COAD 5 37379475 37379475 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:37379475G>A c.6G>A c.(4-6)gaG>gaA p.E2E COAD 5 37396645 37396645 + Silent SNP A A G TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr5:37396645A>G c.465A>G c.(463-465)gaA>gaG p.E155E COAD 5 37516692 37516692 + Splice_Site SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:37516692C>T c.917C>T c.(916-918)gCg>gTg p.A306V COAD 5 37605238 37605239 + Frame_Shift_Ins INS - - A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:37605238_37605239insA c.990_991insA c.(991-993)aaafs p.K331fs COAD 5 37605239 37605239 + Frame_Shift_Del DEL A A - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr5:37605239delA c.991delA c.(991-993)aaafs p.K332fs COAD 5 37697839 37697839 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr5:37697839T>C c.1175T>C c.(1174-1176)gTc>gCc p.V392A COAD 5 37701163 37701163 + Missense_Mutation SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr5:37701163A>G c.1196A>G c.(1195-1197)gAc>gGc p.D399G COAD 5 37701189 37701189 + Nonsense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:37701189C>T c.1222C>T c.(1222-1224)Cga>Tga p.R408* COAD 5 37701209 37701209 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:37701209T>C c.1242T>C c.(1240-1242)ctT>ctC p.L414L COADREAD 5 37379475 37379475 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:37379475G>A c.6G>A c.(4-6)gaG>gaA p.E2E COADREAD 5 37396645 37396645 + Silent SNP A A G TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr5:37396645A>G c.465A>G c.(463-465)gaA>gaG p.E155E COADREAD 5 37516692 37516692 + Splice_Site SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:37516692C>T c.917C>T c.(916-918)gCg>gTg p.A306V COADREAD 5 37605238 37605239 + Frame_Shift_Ins INS - - A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:37605238_37605239insA c.990_991insA c.(991-993)aaafs p.K331fs COADREAD 5 37605239 37605239 + Frame_Shift_Del DEL A A - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr5:37605239delA c.991delA c.(991-993)aaafs p.K332fs COADREAD 5 37697839 37697839 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr5:37697839T>C c.1175T>C c.(1174-1176)gTc>gCc p.V392A COADREAD 5 37701163 37701163 + Missense_Mutation SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr5:37701163A>G c.1196A>G c.(1195-1197)gAc>gGc p.D399G COADREAD 5 37701189 37701189 + Nonsense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:37701189C>T c.1222C>T c.(1222-1224)Cga>Tga p.R408* COADREAD 5 37701209 37701209 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:37701209T>C c.1242T>C c.(1240-1242)ctT>ctC p.L414L COADREAD 5 37703101 37703101 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:37703101C>T c.1328C>T c.(1327-1329)tCt>tTt p.S443F COADREAD 5 37727010 37727010 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:37727010C>T c.1740C>T c.(1738-1740)caC>caT p.H580H DLBC 5 37703146 37703146 + Missense_Mutation SNP G G A TCGA-FF-A7CQ-01A-11D-A382-10 TCGA-FF-A7CQ-10A-01D-A385-10 g.chr5:37703146G>A c.1373G>A c.(1372-1374)cGt>cAt p.R458H ESCA 5 37381711 37381711 + Missense_Mutation SNP A A T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr5:37381711A>T c.99A>T c.(97-99)aaA>aaT p.K33N ESCA 5 37443453 37443453 + Missense_Mutation SNP G G A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 g.chr5:37443453G>A c.665G>A c.(664-666)cGa>cAa p.R222Q ESCA 5 37725063 37725063 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 g.chr5:37725063C>T c.1625C>T c.(1624-1626)cCc>cTc p.P542L GBM 5 37480065 37480065 + Nonsense_Mutation SNP T T G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 g.chr5:37480065T>G c.816T>G c.(814-816)taT>taG p.Y272* GBMLGG 5 37392110 37392110 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:37392110G>T c.184G>T c.(184-186)Gaa>Taa p.E62* GBMLGG 5 37396660 37396660 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:37396660G>T c.480G>T c.(478-480)gaG>gaT p.E160D GBMLGG 5 37480065 37480065 + Nonsense_Mutation SNP T T G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 g.chr5:37480065T>G c.816T>G c.(814-816)taT>taG p.Y272* GBMLGG 5 37703146 37703146 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:37703146G>A c.1373G>A c.(1372-1374)cGt>cAt p.R458H GBMLGG 5 37721297 37721297 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:37721297C>T c.1497C>T c.(1495-1497)taC>taT p.Y499Y HNSC 5 37379491 37379491 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 g.chr5:37379491G>A c.22G>A c.(22-24)Gaa>Aaa p.E8K HNSC 5 37379491 37379491 + Missense_Mutation SNP G G A TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr5:37379491G>A c.22G>A c.(22-24)Gaa>Aaa p.E8K HNSC 5 37396549 37396549 + Silent SNP C C T TCGA-P3-A6T8-01A-11D-A34J-08 TCGA-P3-A6T8-10A-01D-A34M-08 g.chr5:37396549C>T c.369C>T c.(367-369)ccC>ccT p.P123P HNSC 5 37396550 37396550 + Missense_Mutation SNP C C T TCGA-P3-A6T8-01A-11D-A34J-08 TCGA-P3-A6T8-10A-01D-A34M-08 g.chr5:37396550C>T c.370C>T c.(370-372)Cct>Tct p.P124S HNSC 5 37443410 37443410 + Missense_Mutation SNP T T G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr5:37443410T>G c.622T>G c.(622-624)Ttt>Gtt p.F208V HNSC 5 37479940 37479940 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr5:37479940C>T c.691C>T c.(691-693)Cag>Tag p.Q231* HNSC 5 37480011 37480011 + Silent SNP G G A TCGA-CV-6941-01A-11D-1912-08 TCGA-CV-6941-10A-01D-1912-08 g.chr5:37480011G>A c.762G>A c.(760-762)aaG>aaA p.K254K HNSC 5 37480070 37480070 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 g.chr5:37480070T>C c.821T>C c.(820-822)gTg>gCg p.V274A HNSC 5 37605166 37605166 + Splice_Site SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr5:37605166G>T c.918G>T c.(916-918)gcG>gcT p.A306A HNSC 5 37605263 37605263 + Missense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr5:37605263A>T c.1015A>T c.(1015-1017)Aca>Tca p.T339S HNSC 5 37605304 37605304 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chr5:37605304G>A c.1056G>A c.(1054-1056)caG>caA p.Q352Q HNSC 5 37725077 37725077 + Missense_Mutation SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr5:37725077A>G c.1639A>G c.(1639-1641)Aca>Gca p.T547A HNSC 5 37725096 37725096 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr5:37725096A>G c.1658A>G c.(1657-1659)aAg>aGg p.K553R HNSC 5 37725149 37725149 + Missense_Mutation SNP C C A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr5:37725149C>A c.1711C>A c.(1711-1713)Cca>Aca p.P571T HNSC 5 37727134 37727134 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr5:37727134C>T c.1864C>T c.(1864-1866)Cca>Tca p.P622S KICH 5 37721278 37721278 + Missense_Mutation SNP G G T TCGA-KL-8336-01A-11D-2310-10 TCGA-KL-8336-11A-01D-2310-10 g.chr5:37721278G>T c.1478G>T c.(1477-1479)gGa>gTa p.G493V KICH 5 37721279 37721279 + Silent SNP A A G TCGA-KL-8336-01A-11D-2310-10 TCGA-KL-8336-11A-01D-2310-10 g.chr5:37721279A>G c.1479A>G c.(1477-1479)ggA>ggG p.G493G KIPAN 5 37381726 37381726 + Silent SNP C C T TCGA-G7-6795-01A-11D-1961-08 TCGA-G7-6795-10A-01D-1962-08 g.chr5:37381726C>T c.114C>T c.(112-114)gaC>gaT p.D38D KIPAN 5 37721278 37721278 + Missense_Mutation SNP G G T TCGA-KL-8336-01A-11D-2310-10 TCGA-KL-8336-11A-01D-2310-10 g.chr5:37721278G>T c.1478G>T c.(1477-1479)gGa>gTa p.G493V KIPAN 5 37721279 37721279 + Silent SNP A A G TCGA-KL-8336-01A-11D-2310-10 TCGA-KL-8336-11A-01D-2310-10 g.chr5:37721279A>G c.1479A>G c.(1477-1479)ggA>ggG p.G493G KIRP 5 37381726 37381726 + Silent SNP C C T TCGA-G7-6795-01A-11D-1961-08 TCGA-G7-6795-10A-01D-1962-08 g.chr5:37381726C>T c.114C>T c.(112-114)gaC>gaT p.D38D LGG 5 37392110 37392110 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:37392110G>T c.184G>T c.(184-186)Gaa>Taa p.E62* LGG 5 37396660 37396660 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:37396660G>T c.480G>T c.(478-480)gaG>gaT p.E160D LGG 5 37703146 37703146 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:37703146G>A c.1373G>A c.(1372-1374)cGt>cAt p.R458H LGG 5 37721297 37721297 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:37721297C>T c.1497C>T c.(1495-1497)taC>taT p.Y499Y LIHC 5 37703139 37703139 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr5:37703139delT c.1366delT c.(1366-1368)tttfs p.F456fs LIHC 5 37721261 37721261 + Missense_Mutation SNP G G A TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr5:37721261G>A c.1461G>A c.(1459-1461)atG>atA p.M487I LIHC 5 37752658 37752658 + Frame_Shift_Del DEL A A - TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr5:37752658delA c.1948delA c.(1948-1950)aaafs p.K651fs LUAD 5 37379592 37379592 + Splice_Site SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr5:37379592G>A c.27G>A c.(25-27)gtG>gtA p.V9V LUAD 5 37381788 37381788 + Splice_Site SNP G G T TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr5:37381788G>T c.e3+1 LUAD 5 37392113 37392113 + Missense_Mutation SNP A A G TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr5:37392113A>G c.187A>G c.(187-189)Aaa>Gaa p.K63E LUAD 5 37392197 37392197 + Missense_Mutation SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 g.chr5:37392197A>G c.271A>G c.(271-273)Aga>Gga p.R91G LUAD 5 37392209 37392209 + Missense_Mutation SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 g.chr5:37392209A>G c.283A>G c.(283-285)Aaa>Gaa p.K95E LUAD 5 37396476 37396476 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr5:37396476G>T c.e5-1 LUAD 5 37443461 37443461 + Nonsense_Mutation SNP C C T TCGA-83-5908-01A-21D-2284-08 TCGA-83-5908-10A-01D-2284-08 g.chr5:37443461C>T c.673C>T c.(673-675)Cag>Tag p.Q225* LUAD 5 37479982 37479982 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 g.chr5:37479982C>G c.733C>G c.(733-735)Ctt>Gtt p.L245V LUAD 5 37480018 37480018 + Missense_Mutation SNP G G C TCGA-38-4630-01A-01D-1265-08 TCGA-38-4630-11A-01D-1265-08 g.chr5:37480018G>C c.769G>C c.(769-771)Gac>Cac p.D257H LUAD 5 37516683 37516683 + Nonsense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr5:37516683C>G c.908C>G c.(907-909)tCa>tGa p.S303* LUAD 5 37703125 37703125 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr5:37703125G>A c.1352G>A c.(1351-1353)gGc>gAc p.G451D LUAD 5 37703180 37703180 + Missense_Mutation SNP C C G TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr5:37703180C>G c.1407C>G c.(1405-1407)atC>atG p.I469M LUAD 5 37725057 37725057 + Missense_Mutation SNP G G C TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr5:37725057G>C c.1619G>C c.(1618-1620)cGt>cCt p.R540P LUAD 5 37725121 37725121 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr5:37725121G>A c.1683G>A c.(1681-1683)tcG>tcA p.S561S LUSC 5 37392194 37392194 + Missense_Mutation SNP G G A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr5:37392194G>A c.268G>A c.(268-270)Gtc>Atc p.V90I LUSC 5 37443371 37443371 + Missense_Mutation SNP G G T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr5:37443371G>T c.583G>T c.(583-585)Gcc>Tcc p.A195S LUSC 5 37605177 37605177 + Missense_Mutation SNP C C A TCGA-18-4721-01A-01D-1441-08 TCGA-18-4721-11A-01D-1441-08 g.chr5:37605177C>A c.929C>A c.(928-930)aCg>aAg p.T310K LUSC 5 37605225 37605225 + Missense_Mutation SNP G G T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr5:37605225G>T c.977G>T c.(976-978)cGg>cTg p.R326L LUSC 5 37723010 37723010 + Missense_Mutation SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr5:37723010C>T c.1571C>T c.(1570-1572)aCt>aTt p.T524I OV 5 37480010 37480010 + Missense_Mutation SNP A A T TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 g.chr5:37480010A>T c.761A>T c.(760-762)aAg>aTg p.K254M OV 5 37703068 37703068 + Missense_Mutation SNP G G C TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 g.chr5:37703068G>C c.1295G>C c.(1294-1296)aGt>aCt p.S432T PAAD 5 37396622 37396624 + In_Frame_Del DEL GAA GAA - TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 g.chr5:37396622_37396624delGAA c.442_444delGAA c.(442-444)gaadel p.E152del PAAD 5 37479970 37479970 + Nonsense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:37479970G>T c.721G>T c.(721-723)Gga>Tga p.G241* PAAD 5 37703125 37703125 + Missense_Mutation SNP G G A TCGA-H8-A6C1-01A-11D-A32N-08 TCGA-H8-A6C1-10A-01D-A32N-08 g.chr5:37703125G>A c.1352G>A c.(1351-1353)gGc>gAc p.G451D PAAD 5 37723012 37723012 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:37723012C>T c.1573C>T c.(1573-1575)Cta>Tta p.L525L PAAD 5 37725121 37725121 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chr5:37725121G>A c.1683G>A c.(1681-1683)tcG>tcA p.S561S PAAD 5 37725121 37725121 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 g.chr5:37725121G>A c.1683G>A c.(1681-1683)tcG>tcA p.S561S PRAD 5 37379473 37379473 + Nonsense_Mutation SNP G G T TCGA-HC-8259-01A-11D-2260-08 TCGA-HC-8259-10A-01D-2260-08 g.chr5:37379473G>T c.4G>T c.(4-6)Gag>Tag p.E2* PRAD 5 37701190 37701190 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:37701190G>A c.1223G>A c.(1222-1224)cGa>cAa p.R408Q PRAD 5 37725056 37725056 + Missense_Mutation SNP C C T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 g.chr5:37725056C>T c.1618C>T c.(1618-1620)Cgt>Tgt p.R540C READ 5 37703101 37703101 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:37703101C>T c.1328C>T c.(1327-1329)tCt>tTt p.S443F READ 5 37727010 37727010 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:37727010C>T c.1740C>T c.(1738-1740)caC>caT p.H580H SARC 5 37443374 37443374 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 g.chr5:37443374C>T c.586C>T c.(586-588)Cgt>Tgt p.R196C SARC 5 37752596 37752596 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr5:37752596C>T c.1886C>T c.(1885-1887)cCc>cTc p.P629L SKCM 5 37381772 37381772 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:37381772A>C c.160A>C c.(160-162)Agt>Cgt p.S54R SKCM 5 37396570 37396570 + Silent SNP A A C TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr5:37396570A>C c.390A>C c.(388-390)ccA>ccC p.P130P SKCM 5 37396597 37396597 + Silent SNP C C T TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr5:37396597C>T c.417C>T c.(415-417)ctC>ctT p.L139L SKCM 5 37516634 37516634 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr5:37516634C>T c.859C>T c.(859-861)Cat>Tat p.H287Y SKCM 5 37725129 37725129 + Missense_Mutation SNP C C T TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr5:37725129C>T c.1691C>T c.(1690-1692)cCt>cTt p.P564L SKCM 5 37725136 37725136 + Silent SNP T T A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr5:37725136T>A c.1698T>A c.(1696-1698)ccT>ccA p.P566P SKCM 5 37725138 37725138 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr5:37725138C>T c.1700C>T c.(1699-1701)cCt>cTt p.P567L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 37392188 37392188 single base substitution A T exon_variant BLCA-CN 5 37392188 37392188 single base substitution A T missense_variant N88Y 262A>T BLCA-US 5 37379600 37379600 single base substitution C T exon_variant BLCA-US 5 37379600 37379600 single base substitution C T intron_variant BLCA-US 5 37379600 37379600 single base substitution C T missense_variant S12L 35C>T BLCA-US 5 37379640 37379640 single base substitution G A exon_variant BLCA-US 5 37379640 37379640 single base substitution G A intron_variant BLCA-US 5 37379640 37379640 single base substitution G A missense_variant M25I 75G>A BLCA-US 5 37605251 37605251 single base substitution C T exon_variant BLCA-US 5 37605251 37605251 single base substitution C T missense_variant P335S 1003C>T BLCA-US 5 37703084 37703084 single base substitution C G exon_variant BLCA-US 5 37703084 37703084 single base substitution C G synonymous_variant L437L 1311C>G BLCA-US 5 37727078 37727078 single base substitution G A exon_variant BLCA-US 5 37727078 37727078 single base substitution G A missense_variant R603Q 1808G>A BOCA-FR 5 37738568 37738568 single base substitution G A intron_variant BRCA-EU 5 37375166 37375166 single base substitution G T upstream_gene_variant BRCA-EU 5 37375278 37375278 single base substitution T C upstream_gene_variant BRCA-EU 5 37375358 37375358 single base substitution C G upstream_gene_variant BRCA-EU 5 37375614 37375614 single base substitution G A upstream_gene_variant BRCA-EU 5 37375802 37375802 single base substitution G C upstream_gene_variant BRCA-EU 5 37376066 37376066 single base substitution G C upstream_gene_variant BRCA-EU 5 37376232 37376232 insertion of <=200bp - A upstream_gene_variant BRCA-EU 5 37376671 37376671 single base substitution C T upstream_gene_variant BRCA-EU 5 37376810 37376810 insertion of <=200bp - A upstream_gene_variant BRCA-EU 5 37377286 37377286 single base substitution T A upstream_gene_variant BRCA-EU 5 37377974 37377974 single base substitution G C upstream_gene_variant BRCA-EU 5 37378329 37378329 single base substitution G T upstream_gene_variant BRCA-EU 5 37379945 37379945 single base substitution G T intron_variant BRCA-EU 5 37380750 37380750 single base substitution A G intron_variant BRCA-EU 5 37380753 37380753 single base substitution C G intron_variant BRCA-EU 5 37380780 37380780 single base substitution C T intron_variant BRCA-EU 5 37383063 37383063 single base substitution T C downstream_gene_variant BRCA-EU 5 37383063 37383063 single base substitution T C intron_variant BRCA-EU 5 37384435 37384435 single base substitution T C downstream_gene_variant BRCA-EU 5 37384435 37384435 single base substitution T C intron_variant BRCA-EU 5 37385998 37385998 single base substitution C T downstream_gene_variant BRCA-EU 5 37385998 37385998 single base substitution C T intron_variant BRCA-EU 5 37387249 37387249 single base substitution T G intron_variant BRCA-EU 5 37387250 37387250 single base substitution T G intron_variant BRCA-EU 5 37387617 37387617 single base substitution C T intron_variant BRCA-EU 5 37387923 37387923 single base substitution G A intron_variant BRCA-EU 5 37387935 37387935 single base substitution C T intron_variant BRCA-EU 5 37388865 37388865 single base substitution C A intron_variant BRCA-EU 5 37389987 37389987 single base substitution A G intron_variant BRCA-EU 5 37390664 37390664 single base substitution G A intron_variant BRCA-EU 5 37391640 37391640 single base substitution C A intron_variant BRCA-EU 5 37391990 37391990 single base substitution C T intron_variant BRCA-EU 5 37392140 37392140 single base substitution G C exon_variant BRCA-EU 5 37392140 37392140 single base substitution G C missense_variant E72Q 214G>C BRCA-EU 5 37392213 37392213 single base substitution C G exon_variant BRCA-EU 5 37392213 37392213 single base substitution C G stop_gained S96* 287C>G BRCA-EU 5 37393697 37393697 deletion of <=200bp T - intron_variant BRCA-EU 5 37394513 37394513 single base substitution C G intron_variant BRCA-EU 5 37395161 37395161 single base substitution C T intron_variant BRCA-EU 5 37395510 37395510 single base substitution A G intron_variant BRCA-EU 5 37396353 37396353 deletion of <=200bp A - intron_variant BRCA-EU 5 37396703 37396703 single base substitution G A intron_variant BRCA-EU 5 37397008 37397008 single base substitution G A intron_variant BRCA-EU 5 37397955 37397955 deletion of <=200bp C - intron_variant BRCA-EU 5 37398399 37398399 single base substitution C T intron_variant BRCA-EU 5 37398437 37398437 single base substitution G A intron_variant BRCA-EU 5 37400635 37400635 single base substitution C T intron_variant BRCA-EU 5 37402924 37402924 single base substitution C G intron_variant BRCA-EU 5 37403486 37403486 single base substitution C T intron_variant BRCA-EU 5 37406874 37406874 single base substitution G A intron_variant BRCA-EU 5 37408562 37408562 single base substitution C T intron_variant BRCA-EU 5 37410085 37410085 single base substitution T C intron_variant BRCA-EU 5 37410101 37410101 single base substitution C T intron_variant BRCA-EU 5 37410645 37410645 single base substitution G A intron_variant BRCA-EU 5 37412390 37412390 single base substitution G C intron_variant BRCA-EU 5 37412884 37412884 single base substitution T G intron_variant BRCA-EU 5 37413001 37413001 single base substitution C G intron_variant BRCA-EU 5 37416324 37416324 single base substitution C T intron_variant BRCA-EU 5 37416461 37416461 single base substitution A G intron_variant BRCA-EU 5 37418917 37418917 single base substitution G T intron_variant BRCA-EU 5 37418934 37418934 single base substitution C G intron_variant BRCA-EU 5 37420174 37420174 single base substitution A G intron_variant BRCA-EU 5 37421451 37421451 single base substitution T G intron_variant BRCA-EU 5 37422357 37422357 single base substitution G A intron_variant BRCA-EU 5 37422975 37422975 single base substitution C T intron_variant BRCA-EU 5 37423693 37423693 single base substitution T A intron_variant BRCA-EU 5 37424524 37424524 single base substitution A C intron_variant BRCA-EU 5 37425631 37425631 single base substitution C T intron_variant BRCA-EU 5 37426961 37426961 single base substitution G C intron_variant BRCA-EU 5 37428314 37428314 deletion of <=200bp A - intron_variant BRCA-EU 5 37429473 37429473 deletion of <=200bp T - intron_variant BRCA-EU 5 37430005 37430005 single base substitution G A intron_variant BRCA-EU 5 37431862 37431862 single base substitution C T intron_variant BRCA-EU 5 37431874 37431874 single base substitution G T intron_variant BRCA-EU 5 37432217 37432217 single base substitution C G intron_variant BRCA-EU 5 37432697 37432697 single base substitution G A intron_variant BRCA-EU 5 37433830 37433830 single base substitution C G intron_variant BRCA-EU 5 37434205 37434205 single base substitution C A intron_variant BRCA-EU 5 37435154 37435154 single base substitution C G intron_variant BRCA-EU 5 37435497 37435497 single base substitution C T intron_variant BRCA-EU 5 37435809 37435809 single base substitution C G intron_variant BRCA-EU 5 37436495 37436495 single base substitution A C intron_variant BRCA-EU 5 37436521 37436521 single base substitution A G intron_variant BRCA-EU 5 37436778 37436778 single base substitution G A intron_variant BRCA-EU 5 37437999 37437999 single base substitution A G intron_variant BRCA-EU 5 37439018 37439018 insertion of <=200bp - G intron_variant BRCA-EU 5 37440152 37440152 single base substitution C G intron_variant BRCA-EU 5 37440159 37440159 single base substitution C G intron_variant BRCA-EU 5 37441971 37441971 single base substitution A T intron_variant BRCA-EU 5 37442253 37442253 single base substitution C T intron_variant BRCA-EU 5 37442954 37442954 single base substitution T C intron_variant BRCA-EU 5 37443310 37443310 single base substitution C T intron_variant BRCA-EU 5 37443730 37443730 single base substitution G A intron_variant BRCA-EU 5 37444736 37444736 single base substitution C T intron_variant BRCA-EU 5 37445617 37445617 single base substitution T G intron_variant BRCA-EU 5 37448635 37448635 single base substitution C G intron_variant BRCA-EU 5 37449460 37449460 single base substitution G A intron_variant BRCA-EU 5 37455847 37455847 single base substitution T C intron_variant BRCA-EU 5 37457942 37457942 single base substitution G T intron_variant BRCA-EU 5 37460559 37460559 single base substitution G A intron_variant BRCA-EU 5 37463218 37463218 single base substitution A G intron_variant BRCA-EU 5 37463388 37463388 deletion of <=200bp G - intron_variant BRCA-EU 5 37463431 37463431 single base substitution G T intron_variant BRCA-EU 5 37466864 37466864 single base substitution G A intron_variant BRCA-EU 5 37468244 37468244 single base substitution C T intron_variant BRCA-EU 5 37469612 37469612 single base substitution G A intron_variant BRCA-EU 5 37469865 37469865 single base substitution C G intron_variant BRCA-EU 5 37471665 37471665 deletion of <=200bp T - intron_variant BRCA-EU 5 37472268 37472268 single base substitution A T intron_variant BRCA-EU 5 37472304 37472304 single base substitution G C intron_variant BRCA-EU 5 37473563 37473563 single base substitution A T intron_variant BRCA-EU 5 37474136 37474136 single base substitution C T intron_variant BRCA-EU 5 37475132 37475132 single base substitution C T intron_variant BRCA-EU 5 37475132 37475132 single base substitution C T upstream_gene_variant BRCA-EU 5 37478185 37478185 single base substitution C T intron_variant BRCA-EU 5 37478185 37478185 single base substitution C T upstream_gene_variant BRCA-EU 5 37478236 37478236 single base substitution C T intron_variant BRCA-EU 5 37478236 37478236 single base substitution C T upstream_gene_variant BRCA-EU 5 37478476 37478476 single base substitution C G intron_variant BRCA-EU 5 37478476 37478476 single base substitution C G upstream_gene_variant BRCA-EU 5 37479139 37479139 single base substitution G A intron_variant BRCA-EU 5 37479139 37479139 single base substitution G A upstream_gene_variant BRCA-EU 5 37481594 37481594 single base substitution G A intron_variant BRCA-EU 5 37483369 37483369 single base substitution G A intron_variant BRCA-EU 5 37483749 37483749 single base substitution G C intron_variant BRCA-EU 5 37485101 37485101 single base substitution G A intron_variant BRCA-EU 5 37485828 37485828 single base substitution C T intron_variant BRCA-EU 5 37486218 37486218 single base substitution C T intron_variant BRCA-EU 5 37487061 37487061 single base substitution C G intron_variant BRCA-EU 5 37487667 37487667 single base substitution C G intron_variant BRCA-EU 5 37489097 37489097 single base substitution C T intron_variant BRCA-EU 5 37490096 37490096 single base substitution G C intron_variant BRCA-EU 5 37491748 37491748 single base substitution C G intron_variant BRCA-EU 5 37492602 37492602 single base substitution C G intron_variant BRCA-EU 5 37494549 37494549 single base substitution C T intron_variant BRCA-EU 5 37494765 37494765 single base substitution T C intron_variant BRCA-EU 5 37495767 37495771 deletion of <=200bp AAGAG - intron_variant BRCA-EU 5 37497680 37497680 single base substitution T G intron_variant BRCA-EU 5 37499436 37499436 single base substitution G A intron_variant BRCA-EU 5 37499625 37499625 insertion of <=200bp - T intron_variant BRCA-EU 5 37499634 37499634 deletion of <=200bp A - intron_variant BRCA-EU 5 37500345 37500345 single base substitution C G intron_variant BRCA-EU 5 37500554 37500554 single base substitution G T intron_variant BRCA-EU 5 37500606 37500606 single base substitution C G intron_variant BRCA-EU 5 37500910 37500910 single base substitution C G intron_variant BRCA-EU 5 37501464 37501464 single base substitution G T intron_variant BRCA-EU 5 37502281 37502281 deletion of <=200bp T - intron_variant BRCA-EU 5 37502281 37502282 deletion of <=200bp TT - intron_variant BRCA-EU 5 37502701 37502701 single base substitution A T intron_variant BRCA-EU 5 37504091 37504091 single base substitution G C intron_variant BRCA-EU 5 37504223 37504223 single base substitution G A intron_variant BRCA-EU 5 37504901 37504901 single base substitution C T intron_variant BRCA-EU 5 37506973 37506973 single base substitution G A intron_variant BRCA-EU 5 37507501 37507501 single base substitution G C intron_variant BRCA-EU 5 37508338 37508338 single base substitution G C intron_variant BRCA-EU 5 37508382 37508382 insertion of <=200bp - A intron_variant BRCA-EU 5 37508902 37508902 single base substitution G A intron_variant BRCA-EU 5 37509461 37509461 single base substitution G C intron_variant BRCA-EU 5 37510188 37510188 single base substitution C A intron_variant BRCA-EU 5 37512413 37512413 single base substitution C G intron_variant BRCA-EU 5 37512929 37512929 single base substitution C T intron_variant BRCA-EU 5 37513844 37513844 single base substitution C T intron_variant BRCA-EU 5 37514020 37514020 single base substitution C G intron_variant BRCA-EU 5 37516721 37516721 insertion of <=200bp - CATT intron_variant BRCA-EU 5 37519162 37519162 single base substitution C T intron_variant BRCA-EU 5 37519271 37519271 single base substitution G A intron_variant BRCA-EU 5 37520121 37520121 single base substitution C G intron_variant BRCA-EU 5 37521859 37521859 single base substitution C G intron_variant BRCA-EU 5 37523444 37523444 single base substitution C T intron_variant BRCA-EU 5 37524611 37524611 single base substitution C T intron_variant BRCA-EU 5 37524622 37524622 deletion of <=200bp A - intron_variant BRCA-EU 5 37526395 37526395 single base substitution G T intron_variant BRCA-EU 5 37528757 37528757 single base substitution C G intron_variant BRCA-EU 5 37528761 37528761 single base substitution T G intron_variant BRCA-EU 5 37528868 37528868 single base substitution C G intron_variant BRCA-EU 5 37530664 37530664 single base substitution C G intron_variant BRCA-EU 5 37530733 37530737 deletion of <=200bp TGTGG - intron_variant BRCA-EU 5 37531597 37531597 single base substitution G A intron_variant BRCA-EU 5 37532190 37532190 single base substitution T C intron_variant BRCA-EU 5 37532953 37532953 single base substitution G A intron_variant BRCA-EU 5 37535245 37535245 single base substitution A G intron_variant BRCA-EU 5 37536767 37536767 single base substitution C G intron_variant BRCA-EU 5 37536798 37536798 single base substitution G T intron_variant BRCA-EU 5 37537081 37537081 deletion of <=200bp A - intron_variant BRCA-EU 5 37537932 37537932 deletion of <=200bp T - intron_variant BRCA-EU 5 37538620 37538620 single base substitution G C intron_variant BRCA-EU 5 37540293 37540293 single base substitution T G intron_variant BRCA-EU 5 37540420 37540420 single base substitution A C intron_variant BRCA-EU 5 37542890 37542890 single base substitution A T intron_variant BRCA-EU 5 37543039 37543039 single base substitution G T intron_variant BRCA-EU 5 37545007 37545007 single base substitution T C intron_variant BRCA-EU 5 37545016 37545016 single base substitution A C intron_variant BRCA-EU 5 37545018 37545018 single base substitution A T intron_variant BRCA-EU 5 37545356 37545356 single base substitution C G intron_variant BRCA-EU 5 37545491 37545491 single base substitution C T intron_variant BRCA-EU 5 37546421 37546421 single base substitution A T intron_variant BRCA-EU 5 37546529 37546529 deletion of <=200bp T - intron_variant BRCA-EU 5 37547183 37547183 single base substitution T G intron_variant BRCA-EU 5 37547604 37547604 insertion of <=200bp - T intron_variant BRCA-EU 5 37548172 37548172 single base substitution C T intron_variant BRCA-EU 5 37548432 37548432 single base substitution C G intron_variant BRCA-EU 5 37548791 37548791 single base substitution G T intron_variant BRCA-EU 5 37552772 37552772 single base substitution T C intron_variant BRCA-EU 5 37552961 37552961 insertion of <=200bp - T intron_variant BRCA-EU 5 37553250 37553250 single base substitution G A intron_variant BRCA-EU 5 37557009 37557009 single base substitution A T intron_variant BRCA-EU 5 37557912 37557912 single base substitution C G intron_variant BRCA-EU 5 37558326 37558326 single base substitution C G intron_variant BRCA-EU 5 37558505 37558505 single base substitution C T intron_variant BRCA-EU 5 37561658 37561658 deletion of <=200bp G - intron_variant BRCA-EU 5 37561756 37561756 single base substitution A G intron_variant BRCA-EU 5 37562211 37562211 single base substitution G A intron_variant BRCA-EU 5 37564567 37564567 single base substitution G A intron_variant BRCA-EU 5 37564658 37564658 single base substitution G A intron_variant BRCA-EU 5 37564673 37564673 single base substitution G C intron_variant BRCA-EU 5 37564924 37564924 single base substitution C T intron_variant BRCA-EU 5 37566448 37566448 single base substitution G C intron_variant BRCA-EU 5 37566712 37566712 single base substitution G A intron_variant BRCA-EU 5 37568253 37568253 single base substitution C G intron_variant BRCA-EU 5 37568697 37568697 single base substitution C A intron_variant BRCA-EU 5 37569095 37569095 single base substitution C T intron_variant BRCA-EU 5 37569252 37569252 single base substitution A T intron_variant BRCA-EU 5 37571206 37571206 single base substitution T G intron_variant BRCA-EU 5 37572231 37572231 single base substitution G A intron_variant BRCA-EU 5 37572247 37572247 single base substitution T A intron_variant BRCA-EU 5 37573184 37573184 single base substitution C A intron_variant BRCA-EU 5 37574927 37574927 single base substitution G C intron_variant BRCA-EU 5 37575209 37575209 single base substitution C G intron_variant BRCA-EU 5 37575228 37575228 single base substitution C T intron_variant BRCA-EU 5 37575297 37575297 single base substitution C G intron_variant BRCA-EU 5 37575355 37575355 single base substitution C T intron_variant BRCA-EU 5 37575428 37575428 single base substitution G C intron_variant BRCA-EU 5 37575491 37575491 single base substitution C G intron_variant BRCA-EU 5 37576616 37576616 single base substitution G C intron_variant BRCA-EU 5 37577441 37577441 single base substitution A G intron_variant BRCA-EU 5 37577727 37577727 single base substitution C G intron_variant BRCA-EU 5 37578033 37578033 single base substitution C A intron_variant BRCA-EU 5 37578148 37578148 single base substitution C G intron_variant BRCA-EU 5 37578422 37578422 single base substitution G A intron_variant BRCA-EU 5 37580036 37580036 single base substitution C T intron_variant BRCA-EU 5 37580054 37580054 single base substitution C T intron_variant BRCA-EU 5 37580059 37580059 single base substitution C T intron_variant BRCA-EU 5 37580131 37580131 single base substitution C G intron_variant BRCA-EU 5 37580420 37580420 single base substitution G C intron_variant BRCA-EU 5 37581204 37581204 single base substitution G C intron_variant BRCA-EU 5 37581343 37581343 single base substitution C A intron_variant BRCA-EU 5 37581926 37581926 single base substitution G C intron_variant BRCA-EU 5 37583124 37583124 single base substitution A G intron_variant BRCA-EU 5 37583557 37583557 single base substitution T C intron_variant BRCA-EU 5 37583791 37583791 single base substitution T C intron_variant BRCA-EU 5 37583979 37583979 single base substitution G A intron_variant BRCA-EU 5 37583984 37583984 single base substitution G A intron_variant BRCA-EU 5 37584858 37584858 single base substitution C T intron_variant BRCA-EU 5 37586873 37586873 single base substitution T A intron_variant BRCA-EU 5 37588078 37588078 single base substitution C T intron_variant BRCA-EU 5 37588389 37588389 single base substitution G C intron_variant BRCA-EU 5 37589147 37589147 single base substitution G C intron_variant BRCA-EU 5 37589228 37589228 single base substitution C T intron_variant BRCA-EU 5 37590934 37590934 single base substitution C G intron_variant BRCA-EU 5 37591201 37591201 single base substitution G A intron_variant BRCA-EU 5 37591936 37591936 single base substitution T C intron_variant BRCA-EU 5 37593264 37593264 deletion of <=200bp T - intron_variant BRCA-EU 5 37593271 37593271 single base substitution T A intron_variant BRCA-EU 5 37593549 37593549 single base substitution G T intron_variant BRCA-EU 5 37593786 37593786 single base substitution C T intron_variant BRCA-EU 5 37593814 37593814 single base substitution G A intron_variant BRCA-EU 5 37594092 37594092 single base substitution G C intron_variant BRCA-EU 5 37594122 37594122 single base substitution T G intron_variant BRCA-EU 5 37594995 37594995 single base substitution T G intron_variant BRCA-EU 5 37595608 37595608 single base substitution C T intron_variant BRCA-EU 5 37597088 37597088 single base substitution T G intron_variant BRCA-EU 5 37597612 37597612 single base substitution A C intron_variant BRCA-EU 5 37598124 37598124 deletion of <=200bp T - intron_variant BRCA-EU 5 37599011 37599011 single base substitution A C intron_variant BRCA-EU 5 37599570 37599570 single base substitution A G intron_variant BRCA-EU 5 37599692 37599692 single base substitution A T intron_variant BRCA-EU 5 37600453 37600453 single base substitution C T intron_variant BRCA-EU 5 37601011 37601030 deletion of <=200bp TTTTTTGTTTTTGTTTTTGC - intron_variant BRCA-EU 5 37601131 37601131 single base substitution C T intron_variant BRCA-EU 5 37603077 37603077 deletion of <=200bp A - intron_variant BRCA-EU 5 37604223 37604223 single base substitution G A intron_variant BRCA-EU 5 37605121 37605121 single base substitution T G intron_variant BRCA-EU 5 37606798 37606798 single base substitution T C intron_variant BRCA-EU 5 37607420 37607420 single base substitution T C intron_variant BRCA-EU 5 37608242 37608242 single base substitution C G intron_variant BRCA-EU 5 37608260 37608260 single base substitution C T intron_variant BRCA-EU 5 37608480 37608480 single base substitution C G intron_variant BRCA-EU 5 37608522 37608522 single base substitution C T intron_variant BRCA-EU 5 37608583 37608583 single base substitution T C intron_variant BRCA-EU 5 37608692 37608692 single base substitution C A intron_variant BRCA-EU 5 37609396 37609396 single base substitution C T intron_variant BRCA-EU 5 37609580 37609580 single base substitution C G intron_variant BRCA-EU 5 37609976 37609976 single base substitution G A intron_variant BRCA-EU 5 37611603 37611603 single base substitution C T intron_variant BRCA-EU 5 37616120 37616120 single base substitution C T intron_variant BRCA-EU 5 37617056 37617056 single base substitution C G intron_variant BRCA-EU 5 37617850 37617850 single base substitution G A intron_variant BRCA-EU 5 37618305 37618305 deletion of <=200bp A - intron_variant BRCA-EU 5 37619125 37619125 insertion of <=200bp - A intron_variant BRCA-EU 5 37619147 37619147 single base substitution T G intron_variant BRCA-EU 5 37619455 37619455 single base substitution C G intron_variant BRCA-EU 5 37619471 37619471 single base substitution C G intron_variant BRCA-EU 5 37619572 37619572 single base substitution G C intron_variant BRCA-EU 5 37621483 37621483 single base substitution C T intron_variant BRCA-EU 5 37621823 37621823 single base substitution C T intron_variant BRCA-EU 5 37623680 37623680 single base substitution A T intron_variant BRCA-EU 5 37623778 37623778 single base substitution G T intron_variant BRCA-EU 5 37626552 37626552 single base substitution G C intron_variant BRCA-EU 5 37626951 37626951 single base substitution G C intron_variant BRCA-EU 5 37627415 37627415 single base substitution C T intron_variant BRCA-EU 5 37627745 37627745 single base substitution C T intron_variant BRCA-EU 5 37628057 37628057 single base substitution C T intron_variant BRCA-EU 5 37629409 37629409 single base substitution A G intron_variant BRCA-EU 5 37629679 37629679 single base substitution T C intron_variant BRCA-EU 5 37631720 37631720 single base substitution A T intron_variant BRCA-EU 5 37631945 37631945 single base substitution G C intron_variant BRCA-EU 5 37632101 37632101 single base substitution C T intron_variant BRCA-EU 5 37633264 37633264 single base substitution C G intron_variant BRCA-EU 5 37634517 37634517 single base substitution A G intron_variant BRCA-EU 5 37635452 37635452 single base substitution G A intron_variant BRCA-EU 5 37636823 37636823 single base substitution G A intron_variant BRCA-EU 5 37637643 37637643 single base substitution C T intron_variant BRCA-EU 5 37638925 37638925 single base substitution A G intron_variant BRCA-EU 5 37639793 37639793 single base substitution C T intron_variant BRCA-EU 5 37639918 37639918 single base substitution T G intron_variant BRCA-EU 5 37641125 37641125 single base substitution G A intron_variant BRCA-EU 5 37641441 37641441 single base substitution C G intron_variant BRCA-EU 5 37642440 37642440 single base substitution A T intron_variant BRCA-EU 5 37644070 37644070 insertion of <=200bp - T intron_variant BRCA-EU 5 37644454 37644454 single base substitution A G intron_variant BRCA-EU 5 37645696 37645696 single base substitution G A intron_variant BRCA-EU 5 37646218 37646218 single base substitution T G intron_variant BRCA-EU 5 37646795 37646795 single base substitution C A intron_variant BRCA-EU 5 37648266 37648266 single base substitution T G intron_variant BRCA-EU 5 37648268 37648268 single base substitution T A intron_variant BRCA-EU 5 37649228 37649228 single base substitution G T intron_variant BRCA-EU 5 37649605 37649605 single base substitution C T intron_variant BRCA-EU 5 37650282 37650282 single base substitution G A intron_variant BRCA-EU 5 37650697 37650697 single base substitution G C intron_variant BRCA-EU 5 37651237 37651237 single base substitution C T intron_variant BRCA-EU 5 37652229 37652229 single base substitution G C intron_variant BRCA-EU 5 37652445 37652445 single base substitution C T intron_variant BRCA-EU 5 37653328 37653328 single base substitution G A intron_variant BRCA-EU 5 37653673 37653673 single base substitution G A intron_variant BRCA-EU 5 37653737 37653737 single base substitution C T intron_variant BRCA-EU 5 37654870 37654870 single base substitution G A intron_variant BRCA-EU 5 37655123 37655123 single base substitution G A intron_variant BRCA-EU 5 37656955 37656955 single base substitution T A intron_variant BRCA-EU 5 37656966 37656966 single base substitution G A intron_variant BRCA-EU 5 37657013 37657013 single base substitution G C intron_variant BRCA-EU 5 37657364 37657364 single base substitution C T intron_variant BRCA-EU 5 37657845 37657845 single base substitution T C intron_variant BRCA-EU 5 37659421 37659421 single base substitution T C intron_variant BRCA-EU 5 37660276 37660276 single base substitution T C intron_variant BRCA-EU 5 37660408 37660408 single base substitution A T intron_variant BRCA-EU 5 37660441 37660441 single base substitution G C intron_variant BRCA-EU 5 37664744 37664744 deletion of <=200bp T - intron_variant BRCA-EU 5 37668811 37668811 single base substitution G A intron_variant BRCA-EU 5 37669624 37669624 single base substitution C T intron_variant BRCA-EU 5 37670528 37670528 single base substitution C T intron_variant BRCA-EU 5 37674599 37674599 single base substitution C T intron_variant BRCA-EU 5 37676881 37676881 single base substitution C G intron_variant BRCA-EU 5 37679924 37679924 single base substitution G T intron_variant BRCA-EU 5 37680084 37680084 single base substitution C G intron_variant BRCA-EU 5 37680507 37680507 single base substitution A G intron_variant BRCA-EU 5 37680807 37680807 single base substitution T A intron_variant BRCA-EU 5 37681111 37681111 single base substitution A G intron_variant BRCA-EU 5 37681491 37681491 single base substitution C T intron_variant BRCA-EU 5 37681992 37681992 deletion of <=200bp T - intron_variant BRCA-EU 5 37682606 37682606 single base substitution A G intron_variant BRCA-EU 5 37682959 37682959 single base substitution G T intron_variant BRCA-EU 5 37682999 37682999 single base substitution T C intron_variant BRCA-EU 5 37683139 37683139 single base substitution G A intron_variant BRCA-EU 5 37683489 37683489 single base substitution A T intron_variant BRCA-EU 5 37684338 37684338 single base substitution A C intron_variant BRCA-EU 5 37687412 37687412 single base substitution C T intron_variant BRCA-EU 5 37688570 37688570 single base substitution T C intron_variant BRCA-EU 5 37689368 37689368 single base substitution G C intron_variant BRCA-EU 5 37690724 37690724 single base substitution G T intron_variant BRCA-EU 5 37690809 37690809 single base substitution A G intron_variant BRCA-EU 5 37692198 37692198 single base substitution G C intron_variant BRCA-EU 5 37692701 37692701 single base substitution A T intron_variant BRCA-EU 5 37693123 37693123 single base substitution C T intron_variant BRCA-EU 5 37693698 37693698 single base substitution G A intron_variant BRCA-EU 5 37694498 37694498 single base substitution C T intron_variant BRCA-EU 5 37695099 37695099 single base substitution C A intron_variant BRCA-EU 5 37697013 37697013 single base substitution T C intron_variant BRCA-EU 5 37698066 37698066 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 37698066 37698066 deletion of <=200bp T - intron_variant BRCA-EU 5 37699212 37699212 single base substitution C T downstream_gene_variant BRCA-EU 5 37699212 37699212 single base substitution C T intron_variant BRCA-EU 5 37699264 37699264 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 37699264 37699264 deletion of <=200bp A - intron_variant BRCA-EU 5 37699797 37699797 single base substitution C T downstream_gene_variant BRCA-EU 5 37699797 37699797 single base substitution C T intron_variant BRCA-EU 5 37701133 37701133 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 37701133 37701133 deletion of <=200bp T - intron_variant BRCA-EU 5 37701377 37701377 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 37701377 37701377 insertion of <=200bp - T intron_variant BRCA-EU 5 37701553 37701553 single base substitution T C downstream_gene_variant BRCA-EU 5 37701553 37701553 single base substitution T C intron_variant BRCA-EU 5 37702450 37702450 single base substitution G T downstream_gene_variant BRCA-EU 5 37702450 37702450 single base substitution G T intron_variant BRCA-EU 5 37703488 37703488 single base substitution A T downstream_gene_variant BRCA-EU 5 37703488 37703488 single base substitution A T intron_variant BRCA-EU 5 37703535 37703535 single base substitution G C downstream_gene_variant BRCA-EU 5 37703535 37703535 single base substitution G C intron_variant BRCA-EU 5 37704999 37704999 single base substitution A T downstream_gene_variant BRCA-EU 5 37704999 37704999 single base substitution A T intron_variant BRCA-EU 5 37706125 37706125 single base substitution G C downstream_gene_variant BRCA-EU 5 37706125 37706125 single base substitution G C intron_variant BRCA-EU 5 37707385 37707385 single base substitution G C downstream_gene_variant BRCA-EU 5 37707385 37707385 single base substitution G C intron_variant BRCA-EU 5 37707535 37707535 single base substitution G A downstream_gene_variant BRCA-EU 5 37707535 37707535 single base substitution G A intron_variant BRCA-EU 5 37707614 37707614 single base substitution T C downstream_gene_variant BRCA-EU 5 37707614 37707614 single base substitution T C intron_variant BRCA-EU 5 37709452 37709452 insertion of <=200bp - T intron_variant BRCA-EU 5 37710102 37710102 single base substitution G A intron_variant BRCA-EU 5 37710283 37710283 single base substitution G A intron_variant BRCA-EU 5 37710685 37710685 single base substitution G C intron_variant BRCA-EU 5 37711100 37711100 single base substitution A T intron_variant BRCA-EU 5 37711155 37711155 single base substitution G T intron_variant BRCA-EU 5 37711183 37711183 single base substitution G C intron_variant BRCA-EU 5 37711399 37711399 single base substitution T C intron_variant BRCA-EU 5 37712218 37712218 single base substitution C A intron_variant BRCA-EU 5 37712671 37712671 single base substitution G C intron_variant BRCA-EU 5 37713328 37713328 single base substitution G C intron_variant BRCA-EU 5 37713336 37713336 single base substitution G A intron_variant BRCA-EU 5 37713360 37713360 single base substitution G T intron_variant BRCA-EU 5 37713709 37713709 single base substitution T A intron_variant BRCA-EU 5 37713787 37713787 single base substitution G C intron_variant BRCA-EU 5 37714315 37714315 single base substitution G C intron_variant BRCA-EU 5 37714776 37714776 single base substitution G T intron_variant BRCA-EU 5 37714962 37714962 single base substitution T C intron_variant BRCA-EU 5 37716158 37716158 single base substitution G C intron_variant BRCA-EU 5 37717048 37717048 single base substitution A G intron_variant BRCA-EU 5 37717271 37717271 single base substitution A G intron_variant BRCA-EU 5 37717487 37717487 single base substitution C T intron_variant BRCA-EU 5 37720110 37720110 single base substitution G A intron_variant BRCA-EU 5 37720110 37720110 single base substitution G A upstream_gene_variant BRCA-EU 5 37720943 37720943 single base substitution C G intron_variant BRCA-EU 5 37720943 37720943 single base substitution C G upstream_gene_variant BRCA-EU 5 37721939 37721939 single base substitution T C exon_variant BRCA-EU 5 37721939 37721939 single base substitution T C intron_variant BRCA-EU 5 37721939 37721939 single base substitution T C upstream_gene_variant BRCA-EU 5 37722102 37722102 single base substitution A G exon_variant BRCA-EU 5 37722102 37722102 single base substitution A G intron_variant BRCA-EU 5 37722102 37722102 single base substitution A G upstream_gene_variant BRCA-EU 5 37722674 37722674 single base substitution T A exon_variant BRCA-EU 5 37722674 37722674 single base substitution T A intron_variant BRCA-EU 5 37722674 37722674 single base substitution T A upstream_gene_variant BRCA-EU 5 37722894 37722894 single base substitution C T exon_variant BRCA-EU 5 37722894 37722894 single base substitution C T intron_variant BRCA-EU 5 37722894 37722894 single base substitution C T upstream_gene_variant BRCA-EU 5 37723176 37723176 single base substitution C G exon_variant BRCA-EU 5 37723176 37723176 single base substitution C G intron_variant BRCA-EU 5 37723176 37723176 single base substitution C G upstream_gene_variant BRCA-EU 5 37723380 37723380 single base substitution G A exon_variant BRCA-EU 5 37723380 37723380 single base substitution G A intron_variant BRCA-EU 5 37723380 37723380 single base substitution G A upstream_gene_variant BRCA-EU 5 37723845 37723845 single base substitution G C exon_variant BRCA-EU 5 37723845 37723845 single base substitution G C intron_variant BRCA-EU 5 37723845 37723845 single base substitution G C upstream_gene_variant BRCA-EU 5 37724151 37724151 single base substitution T G exon_variant BRCA-EU 5 37724151 37724151 single base substitution T G intron_variant BRCA-EU 5 37724151 37724151 single base substitution T G upstream_gene_variant BRCA-EU 5 37724180 37724180 single base substitution C G exon_variant BRCA-EU 5 37724180 37724180 single base substitution C G intron_variant BRCA-EU 5 37724180 37724180 single base substitution C G upstream_gene_variant BRCA-EU 5 37724181 37724181 single base substitution C T exon_variant BRCA-EU 5 37724181 37724181 single base substitution C T intron_variant BRCA-EU 5 37724181 37724181 single base substitution C T upstream_gene_variant BRCA-EU 5 37724198 37724198 single base substitution A G exon_variant BRCA-EU 5 37724198 37724198 single base substitution A G intron_variant BRCA-EU 5 37724198 37724198 single base substitution A G upstream_gene_variant BRCA-EU 5 37724204 37724204 single base substitution G T exon_variant BRCA-EU 5 37724204 37724204 single base substitution G T intron_variant BRCA-EU 5 37724204 37724204 single base substitution G T upstream_gene_variant BRCA-EU 5 37724570 37724570 single base substitution C G exon_variant BRCA-EU 5 37724570 37724570 single base substitution C G intron_variant BRCA-EU 5 37724570 37724570 single base substitution C G upstream_gene_variant BRCA-EU 5 37726689 37726689 single base substitution G C intron_variant BRCA-EU 5 37727040 37727040 single base substitution G C exon_variant BRCA-EU 5 37727040 37727040 single base substitution G C missense_variant K590N 1770G>C BRCA-EU 5 37727095 37727095 insertion of <=200bp - C exon_variant BRCA-EU 5 37727095 37727095 insertion of <=200bp - C frameshift_variant H609P? BRCA-EU 5 37727862 37727862 single base substitution G C intron_variant BRCA-EU 5 37727894 37727894 single base substitution T C intron_variant BRCA-EU 5 37728084 37728084 single base substitution C T intron_variant BRCA-EU 5 37728295 37728295 single base substitution C G intron_variant BRCA-EU 5 37728375 37728375 single base substitution G A intron_variant BRCA-EU 5 37728429 37728429 single base substitution G A intron_variant BRCA-EU 5 37729088 37729088 single base substitution G T intron_variant BRCA-EU 5 37730193 37730193 single base substitution T C intron_variant BRCA-EU 5 37730940 37730940 single base substitution A G intron_variant BRCA-EU 5 37731760 37731760 single base substitution C G intron_variant BRCA-EU 5 37732584 37732584 single base substitution T C intron_variant BRCA-EU 5 37733080 37733080 single base substitution G A intron_variant BRCA-EU 5 37733254 37733254 single base substitution G T intron_variant BRCA-EU 5 37733367 37733367 single base substitution A G intron_variant BRCA-EU 5 37734939 37734939 single base substitution C A intron_variant BRCA-EU 5 37735520 37735520 single base substitution C T intron_variant BRCA-EU 5 37736080 37736080 single base substitution C T intron_variant BRCA-EU 5 37736975 37736978 deletion of <=200bp AAGT - intron_variant BRCA-EU 5 37737003 37737003 single base substitution A T intron_variant BRCA-EU 5 37738241 37738241 single base substitution A G intron_variant BRCA-EU 5 37738367 37738367 single base substitution A C intron_variant BRCA-EU 5 37740246 37740246 single base substitution T C intron_variant BRCA-EU 5 37740701 37740701 single base substitution T C intron_variant BRCA-EU 5 37740983 37740983 single base substitution G C intron_variant BRCA-EU 5 37741301 37741301 single base substitution T C intron_variant BRCA-EU 5 37741595 37741595 single base substitution G A intron_variant BRCA-EU 5 37741796 37741796 single base substitution C G intron_variant BRCA-EU 5 37742546 37742546 single base substitution A G intron_variant BRCA-EU 5 37742761 37742761 single base substitution C G intron_variant BRCA-EU 5 37744863 37744863 single base substitution G A intron_variant BRCA-EU 5 37745520 37745520 single base substitution T C intron_variant BRCA-EU 5 37745994 37745994 single base substitution C A intron_variant BRCA-EU 5 37746074 37746074 single base substitution A G intron_variant BRCA-EU 5 37747026 37747026 single base substitution C T intron_variant BRCA-EU 5 37747949 37747949 single base substitution G A intron_variant BRCA-EU 5 37748143 37748143 single base substitution A G intron_variant BRCA-EU 5 37748401 37748401 single base substitution C T intron_variant BRCA-EU 5 37748515 37748515 single base substitution C T intron_variant BRCA-EU 5 37748533 37748533 single base substitution C T intron_variant BRCA-EU 5 37748544 37748544 single base substitution T C intron_variant BRCA-EU 5 37749164 37749164 single base substitution A G intron_variant BRCA-EU 5 37749512 37749512 single base substitution G C intron_variant BRCA-EU 5 37749758 37749758 single base substitution C T intron_variant BRCA-EU 5 37750637 37750637 deletion of <=200bp A - intron_variant BRCA-EU 5 37750725 37750725 single base substitution C A intron_variant BRCA-EU 5 37750904 37750904 single base substitution G A intron_variant BRCA-EU 5 37751053 37751053 deletion of <=200bp T - intron_variant BRCA-EU 5 37751343 37751343 single base substitution A G intron_variant BRCA-EU 5 37753802 37753802 single base substitution G A downstream_gene_variant BRCA-EU 5 37755052 37755058 deletion of <=200bp AGCCTCC - downstream_gene_variant BRCA-EU 5 37755677 37755677 single base substitution A C downstream_gene_variant BRCA-EU 5 37756026 37756026 single base substitution C G downstream_gene_variant BRCA-EU 5 37757891 37757891 single base substitution C T downstream_gene_variant BRCA-FR 5 37376248 37376248 single base substitution G A upstream_gene_variant BRCA-FR 5 37387617 37387617 single base substitution C T intron_variant BRCA-FR 5 37394513 37394513 single base substitution C G intron_variant BRCA-FR 5 37395161 37395161 single base substitution C T intron_variant BRCA-FR 5 37410645 37410645 single base substitution G A intron_variant BRCA-FR 5 37413408 37413408 single base substitution G A intron_variant BRCA-FR 5 37419208 37419208 single base substitution C A intron_variant BRCA-FR 5 37419223 37419223 single base substitution C T intron_variant BRCA-FR 5 37419337 37419337 single base substitution C G intron_variant BRCA-FR 5 37421684 37421684 single base substitution C G intron_variant BRCA-FR 5 37430005 37430005 single base substitution G A intron_variant BRCA-FR 5 37431862 37431862 single base substitution C T intron_variant BRCA-FR 5 37434077 37434077 single base substitution G A intron_variant BRCA-FR 5 37440152 37440152 single base substitution C G intron_variant BRCA-FR 5 37445696 37445696 single base substitution A G intron_variant BRCA-FR 5 37449460 37449460 single base substitution G A intron_variant BRCA-FR 5 37455261 37455261 single base substitution G A intron_variant BRCA-FR 5 37469612 37469612 single base substitution G A intron_variant BRCA-FR 5 37469642 37469642 single base substitution G A intron_variant BRCA-FR 5 37477536 37477536 single base substitution T G intron_variant BRCA-FR 5 37477536 37477536 single base substitution T G upstream_gene_variant BRCA-FR 5 37478236 37478236 single base substitution C T intron_variant BRCA-FR 5 37478236 37478236 single base substitution C T upstream_gene_variant BRCA-FR 5 37478476 37478476 single base substitution C G intron_variant BRCA-FR 5 37478476 37478476 single base substitution C G upstream_gene_variant BRCA-FR 5 37479139 37479139 single base substitution G A intron_variant BRCA-FR 5 37479139 37479139 single base substitution G A upstream_gene_variant BRCA-FR 5 37481594 37481594 single base substitution G A intron_variant BRCA-FR 5 37487061 37487061 single base substitution C G intron_variant BRCA-FR 5 37497680 37497680 single base substitution T G intron_variant BRCA-FR 5 37497746 37497746 single base substitution C G intron_variant BRCA-FR 5 37512413 37512413 single base substitution C G intron_variant BRCA-FR 5 37513844 37513844 single base substitution C T intron_variant BRCA-FR 5 37521859 37521859 single base substitution C G intron_variant BRCA-FR 5 37528868 37528868 single base substitution C G intron_variant BRCA-FR 5 37548172 37548172 single base substitution C T intron_variant BRCA-FR 5 37552341 37552341 single base substitution C T intron_variant BRCA-FR 5 37553250 37553250 single base substitution G A intron_variant BRCA-FR 5 37556818 37556818 single base substitution A C intron_variant BRCA-FR 5 37562211 37562211 single base substitution G A intron_variant BRCA-FR 5 37568697 37568697 single base substitution C A intron_variant BRCA-FR 5 37575209 37575209 single base substitution C G intron_variant BRCA-FR 5 37575337 37575337 single base substitution C T intron_variant BRCA-FR 5 37575355 37575355 single base substitution C T intron_variant BRCA-FR 5 37581204 37581204 single base substitution G C intron_variant BRCA-FR 5 37588389 37588389 single base substitution G C intron_variant BRCA-FR 5 37595608 37595608 single base substitution C T intron_variant BRCA-FR 5 37608480 37608480 single base substitution C G intron_variant BRCA-FR 5 37608522 37608522 single base substitution C T intron_variant BRCA-FR 5 37608692 37608692 single base substitution C A intron_variant BRCA-FR 5 37609580 37609580 single base substitution C G intron_variant BRCA-FR 5 37609770 37609770 single base substitution G A intron_variant BRCA-FR 5 37637413 37637413 single base substitution C T intron_variant BRCA-FR 5 37641441 37641441 single base substitution C G intron_variant BRCA-FR 5 37652229 37652229 single base substitution G C intron_variant BRCA-FR 5 37652445 37652445 single base substitution C T intron_variant BRCA-FR 5 37657825 37657825 single base substitution A G intron_variant BRCA-FR 5 37660496 37660496 single base substitution G C intron_variant BRCA-FR 5 37680084 37680084 single base substitution C G intron_variant BRCA-FR 5 37681111 37681111 single base substitution A G intron_variant BRCA-FR 5 37682427 37682427 single base substitution C A intron_variant BRCA-FR 5 37692198 37692198 single base substitution G C intron_variant BRCA-FR 5 37692556 37692556 single base substitution C G intron_variant BRCA-FR 5 37693698 37693698 single base substitution G A intron_variant BRCA-FR 5 37706125 37706125 single base substitution G C downstream_gene_variant BRCA-FR 5 37706125 37706125 single base substitution G C intron_variant BRCA-FR 5 37712218 37712218 single base substitution C A intron_variant BRCA-FR 5 37712671 37712671 single base substitution G C intron_variant BRCA-FR 5 37714962 37714962 single base substitution T C intron_variant BRCA-FR 5 37720943 37720943 single base substitution C G intron_variant BRCA-FR 5 37720943 37720943 single base substitution C G upstream_gene_variant BRCA-FR 5 37722894 37722894 single base substitution C T exon_variant BRCA-FR 5 37722894 37722894 single base substitution C T intron_variant BRCA-FR 5 37722894 37722894 single base substitution C T upstream_gene_variant BRCA-FR 5 37727040 37727040 single base substitution G C exon_variant BRCA-FR 5 37727040 37727040 single base substitution G C missense_variant K590N 1770G>C BRCA-FR 5 37727862 37727862 single base substitution G C intron_variant BRCA-FR 5 37728429 37728429 single base substitution G A intron_variant BRCA-FR 5 37729088 37729088 single base substitution G T intron_variant BRCA-FR 5 37730193 37730193 single base substitution T C intron_variant BRCA-FR 5 37736080 37736080 single base substitution C T intron_variant BRCA-FR 5 37741796 37741796 single base substitution C G intron_variant BRCA-FR 5 37745838 37745838 single base substitution G A intron_variant BRCA-UK 5 37385998 37385998 single base substitution C T downstream_gene_variant BRCA-UK 5 37385998 37385998 single base substitution C T intron_variant BRCA-UK 5 37400635 37400635 single base substitution C T intron_variant BRCA-UK 5 37413489 37413489 single base substitution C G intron_variant BRCA-UK 5 37417801 37417801 single base substitution G A intron_variant BRCA-UK 5 37421138 37421138 single base substitution C T intron_variant BRCA-UK 5 37436495 37436495 single base substitution A C intron_variant BRCA-UK 5 37487078 37487078 single base substitution G A intron_variant BRCA-UK 5 37492436 37492436 single base substitution C A intron_variant BRCA-UK 5 37502701 37502701 single base substitution A T intron_variant BRCA-UK 5 37504223 37504223 single base substitution G A intron_variant BRCA-UK 5 37507430 37507430 single base substitution C T intron_variant BRCA-UK 5 37540450 37540467 multiple base substitution (>=2bp and <=200bp) GTTATATATAATTCATTT A intron_variant BRCA-UK 5 37573676 37573676 single base substitution C A intron_variant BRCA-UK 5 37577441 37577441 single base substitution A G intron_variant BRCA-UK 5 37580092 37580092 single base substitution C A intron_variant BRCA-UK 5 37620084 37620084 single base substitution C T intron_variant BRCA-UK 5 37627415 37627415 single base substitution C T intron_variant BRCA-UK 5 37629679 37629679 single base substitution T C intron_variant BRCA-UK 5 37646766 37646766 single base substitution C A intron_variant BRCA-UK 5 37660276 37660276 single base substitution T C intron_variant BRCA-UK 5 37693123 37693123 single base substitution C T intron_variant BRCA-UK 5 37699212 37699212 single base substitution C T downstream_gene_variant BRCA-UK 5 37699212 37699212 single base substitution C T intron_variant BRCA-UK 5 37699333 37699333 single base substitution G A downstream_gene_variant BRCA-UK 5 37699333 37699333 single base substitution G A intron_variant BRCA-UK 5 37701712 37701712 single base substitution G A downstream_gene_variant BRCA-UK 5 37701712 37701712 single base substitution G A intron_variant BRCA-UK 5 37717271 37717271 single base substitution A G intron_variant BRCA-UK 5 37738621 37738621 single base substitution G A intron_variant BRCA-UK 5 37746074 37746074 single base substitution A G intron_variant BRCA-US 5 37379655 37379655 single base substitution C T intron_variant BRCA-US 5 37379655 37379655 single base substitution C T splice_region_variant BRCA-US 5 37605229 37605229 single base substitution G A exon_variant BRCA-US 5 37605229 37605229 single base substitution G A synonymous_variant T327T 981G>A BRCA-US 5 37701206 37701206 single base substitution A C downstream_gene_variant BRCA-US 5 37701206 37701206 single base substitution A C exon_variant BRCA-US 5 37701206 37701206 single base substitution A C synonymous_variant P413P 1239A>C BTCA-JP 5 37392298 37392298 single base substitution A T intron_variant BTCA-JP 5 37438111 37438111 single base substitution C G intron_variant BTCA-JP 5 37727011 37727011 single base substitution G A exon_variant BTCA-JP 5 37727011 37727011 single base substitution G A missense_variant G581R 1741G>A BTCA-JP 5 37752653 37752653 single base substitution A T exon_variant BTCA-JP 5 37752653 37752653 single base substitution A T missense_variant E648V 1943A>T CESC-US 5 37392223 37392223 single base substitution G T splice_donor_variant CESC-US 5 37701239 37701239 single base substitution C G downstream_gene_variant CESC-US 5 37701239 37701239 single base substitution C G exon_variant CESC-US 5 37701239 37701239 single base substitution C G missense_variant F424L 1272C>G CESC-US 5 37727020 37727020 single base substitution C G exon_variant CESC-US 5 37727020 37727020 single base substitution C G missense_variant L584V 1750C>G CLLE-ES 5 37394151 37394151 single base substitution G C intron_variant CLLE-ES 5 37398339 37398339 single base substitution C T intron_variant CLLE-ES 5 37448703 37448703 single base substitution A G intron_variant CLLE-ES 5 37489548 37489548 single base substitution G T intron_variant CLLE-ES 5 37522599 37522599 single base substitution T G intron_variant CLLE-ES 5 37525861 37525861 single base substitution A T intron_variant CLLE-ES 5 37538436 37538436 single base substitution T C intron_variant CLLE-ES 5 37560500 37560500 single base substitution A G intron_variant CLLE-ES 5 37593369 37593369 single base substitution C T intron_variant CLLE-ES 5 37596154 37596154 single base substitution C T intron_variant CLLE-ES 5 37603308 37603308 single base substitution A G intron_variant CLLE-ES 5 37618546 37618546 single base substitution C G intron_variant CLLE-ES 5 37626421 37626421 single base substitution T C intron_variant CLLE-ES 5 37632861 37632861 single base substitution T C intron_variant CLLE-ES 5 37645003 37645003 single base substitution G A intron_variant CLLE-ES 5 37650130 37650130 single base substitution C T intron_variant CLLE-ES 5 37651826 37651826 single base substitution T A intron_variant CLLE-ES 5 37671542 37671542 single base substitution C T intron_variant CLLE-ES 5 37687369 37687369 single base substitution T C intron_variant CLLE-ES 5 37694052 37694052 single base substitution A G intron_variant CLLE-ES 5 37708447 37708447 single base substitution G C intron_variant CLLE-ES 5 37710503 37710503 single base substitution C G intron_variant CLLE-ES 5 37736520 37736520 single base substitution G A intron_variant CLLE-ES 5 37737573 37737573 single base substitution A T intron_variant CLLE-ES 5 37749133 37749133 single base substitution T C intron_variant CLLE-ES 5 37749957 37749957 single base substitution T C intron_variant COAD-US 5 37379475 37379475 single base substitution G A exon_variant COAD-US 5 37379475 37379475 single base substitution G A synonymous_variant E2E 6G>A COAD-US 5 37392111 37392111 deletion of <=200bp A - exon_variant COAD-US 5 37392111 37392111 deletion of <=200bp A - frameshift_variant E62 COAD-US 5 37605238 37605238 insertion of <=200bp - A exon_variant COAD-US 5 37605238 37605238 insertion of <=200bp - A frameshift_variant G330G? COAD-US 5 37697839 37697839 single base substitution T C 3_prime_UTR_variant COAD-US 5 37697839 37697839 single base substitution T C exon_variant COAD-US 5 37697839 37697839 single base substitution T C missense_variant V392A 1175T>C COAD-US 5 37701189 37701189 single base substitution C T downstream_gene_variant COAD-US 5 37701189 37701189 single base substitution C T exon_variant COAD-US 5 37701189 37701189 single base substitution C T stop_gained R408* 1222C>T COAD-US 5 37752593 37752593 single base substitution A G exon_variant COAD-US 5 37752593 37752593 single base substitution A G missense_variant Q628R 1883A>G COCA-CN 5 37377292 37377292 single base substitution C T upstream_gene_variant COCA-CN 5 37392191 37392191 single base substitution G T exon_variant COCA-CN 5 37392191 37392191 single base substitution G T missense_variant V89L 265G>T COCA-CN 5 37443536 37443536 single base substitution T C intron_variant COCA-CN 5 37457258 37457258 single base substitution C T intron_variant COCA-CN 5 37475739 37475739 single base substitution A T intron_variant COCA-CN 5 37475739 37475739 single base substitution A T upstream_gene_variant COCA-CN 5 37480100 37480100 single base substitution A G intron_variant COCA-CN 5 37486845 37486845 single base substitution T C intron_variant COCA-CN 5 37486899 37486899 single base substitution T G intron_variant COCA-CN 5 37491378 37491378 single base substitution C T intron_variant COCA-CN 5 37497529 37497529 single base substitution C G intron_variant COCA-CN 5 37499217 37499217 single base substitution A C intron_variant COCA-CN 5 37504409 37504409 single base substitution C T intron_variant COCA-CN 5 37556256 37556256 single base substitution T C intron_variant COCA-CN 5 37558043 37558043 single base substitution T A intron_variant COCA-CN 5 37563951 37563951 single base substitution T C intron_variant COCA-CN 5 37588012 37588012 single base substitution G C intron_variant COCA-CN 5 37602549 37602549 single base substitution A G intron_variant COCA-CN 5 37611827 37611827 single base substitution G A intron_variant COCA-CN 5 37612578 37612578 single base substitution A G intron_variant COCA-CN 5 37637838 37637838 single base substitution T C intron_variant COCA-CN 5 37669500 37669500 single base substitution T A intron_variant COCA-CN 5 37677576 37677576 single base substitution G A intron_variant COCA-CN 5 37677582 37677582 single base substitution G A intron_variant COCA-CN 5 37678072 37678072 single base substitution C G intron_variant COCA-CN 5 37687798 37687798 single base substitution G A intron_variant COCA-CN 5 37697805 37697805 single base substitution A G 3_prime_UTR_variant COCA-CN 5 37697805 37697805 single base substitution A G exon_variant COCA-CN 5 37697805 37697805 single base substitution A G missense_variant T381A 1141A>G COCA-CN 5 37697818 37697818 single base substitution C A 3_prime_UTR_variant COCA-CN 5 37697818 37697818 single base substitution C A exon_variant COCA-CN 5 37697818 37697818 single base substitution C A missense_variant T385N 1154C>A COCA-CN 5 37703188 37703188 single base substitution C T downstream_gene_variant COCA-CN 5 37703188 37703188 single base substitution C T missense_variant A472V 1415C>T COCA-CN 5 37703188 37703188 single base substitution C T splice_region_variant COCA-CN 5 37704521 37704521 single base substitution A T downstream_gene_variant COCA-CN 5 37704521 37704521 single base substitution A T intron_variant COCA-CN 5 37742552 37742552 single base substitution G A intron_variant COCA-CN 5 37752486 37752486 single base substitution T G intron_variant COCA-CN 5 37752554 37752554 single base substitution A G intron_variant COCA-CN 5 37752581 37752581 single base substitution C A intron_variant EOPC-DE 5 37479496 37479496 single base substitution A T intron_variant EOPC-DE 5 37479496 37479496 single base substitution A T upstream_gene_variant EOPC-DE 5 37492847 37492847 single base substitution A T intron_variant EOPC-DE 5 37499616 37499616 single base substitution G T intron_variant EOPC-DE 5 37530179 37530179 single base substitution G A intron_variant EOPC-DE 5 37588206 37588206 single base substitution G A intron_variant EOPC-DE 5 37747609 37747609 single base substitution A G intron_variant ESAD-UK 5 37376613 37376613 single base substitution C A upstream_gene_variant ESAD-UK 5 37378099 37378099 single base substitution G A upstream_gene_variant ESAD-UK 5 37378185 37378185 single base substitution C A upstream_gene_variant ESAD-UK 5 37379062 37379062 single base substitution C T upstream_gene_variant ESAD-UK 5 37379246 37379246 single base substitution C G upstream_gene_variant ESAD-UK 5 37380820 37380820 single base substitution G A intron_variant ESAD-UK 5 37383124 37383124 single base substitution A T downstream_gene_variant ESAD-UK 5 37383124 37383124 single base substitution A T intron_variant ESAD-UK 5 37385905 37385906 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 5 37385905 37385906 deletion of <=200bp AT - intron_variant ESAD-UK 5 37386715 37386715 single base substitution T G downstream_gene_variant ESAD-UK 5 37386715 37386715 single base substitution T G intron_variant ESAD-UK 5 37389491 37389491 single base substitution C T intron_variant ESAD-UK 5 37390460 37390460 single base substitution G T intron_variant ESAD-UK 5 37391566 37391566 single base substitution A G intron_variant ESAD-UK 5 37391994 37391994 single base substitution C T intron_variant ESAD-UK 5 37393575 37393575 single base substitution T G intron_variant ESAD-UK 5 37395399 37395399 single base substitution G T intron_variant ESAD-UK 5 37395458 37395458 single base substitution T G intron_variant ESAD-UK 5 37397871 37397871 single base substitution C T intron_variant ESAD-UK 5 37399895 37399895 single base substitution T C intron_variant ESAD-UK 5 37400157 37400157 single base substitution C T intron_variant ESAD-UK 5 37400272 37400272 single base substitution G T intron_variant ESAD-UK 5 37401485 37401485 single base substitution T G intron_variant ESAD-UK 5 37401567 37401567 single base substitution G A intron_variant ESAD-UK 5 37401615 37401615 single base substitution C A intron_variant ESAD-UK 5 37401852 37401852 single base substitution G A intron_variant ESAD-UK 5 37401993 37401993 single base substitution A T intron_variant ESAD-UK 5 37402755 37402755 single base substitution C G intron_variant ESAD-UK 5 37403818 37403818 single base substitution A T intron_variant ESAD-UK 5 37404669 37404669 insertion of <=200bp - T intron_variant ESAD-UK 5 37405134 37405143 deletion of <=200bp GCTTTCTCTT - intron_variant ESAD-UK 5 37405874 37405874 single base substitution G A intron_variant ESAD-UK 5 37405899 37405899 single base substitution G C intron_variant ESAD-UK 5 37412278 37412278 single base substitution C T intron_variant ESAD-UK 5 37412791 37412791 single base substitution A G intron_variant ESAD-UK 5 37417940 37417940 single base substitution C T intron_variant ESAD-UK 5 37418568 37418568 single base substitution A G intron_variant ESAD-UK 5 37422610 37422610 single base substitution C T intron_variant ESAD-UK 5 37423589 37423589 single base substitution T A intron_variant ESAD-UK 5 37426028 37426028 single base substitution G A intron_variant ESAD-UK 5 37427601 37427601 single base substitution A C intron_variant ESAD-UK 5 37429473 37429473 single base substitution T G intron_variant ESAD-UK 5 37429997 37429997 insertion of <=200bp - T intron_variant ESAD-UK 5 37432474 37432474 single base substitution T A intron_variant ESAD-UK 5 37432697 37432697 single base substitution G A intron_variant ESAD-UK 5 37433456 37433456 single base substitution C T intron_variant ESAD-UK 5 37433512 37433512 single base substitution T G intron_variant ESAD-UK 5 37434528 37434528 single base substitution C A intron_variant ESAD-UK 5 37435275 37435275 single base substitution T C intron_variant ESAD-UK 5 37435369 37435369 single base substitution A C intron_variant ESAD-UK 5 37435661 37435661 insertion of <=200bp - A intron_variant ESAD-UK 5 37437031 37437031 single base substitution A C intron_variant ESAD-UK 5 37441920 37441920 deletion of <=200bp A - intron_variant ESAD-UK 5 37444836 37444836 insertion of <=200bp - T intron_variant ESAD-UK 5 37447585 37447585 single base substitution C T intron_variant ESAD-UK 5 37448970 37448970 single base substitution G T intron_variant ESAD-UK 5 37450128 37450128 single base substitution C T intron_variant ESAD-UK 5 37452094 37452096 deletion of <=200bp CAA - intron_variant ESAD-UK 5 37452399 37452399 single base substitution C G intron_variant ESAD-UK 5 37453621 37453621 single base substitution C T intron_variant ESAD-UK 5 37454424 37454424 single base substitution A T intron_variant ESAD-UK 5 37454742 37454742 single base substitution T G intron_variant ESAD-UK 5 37456659 37456659 single base substitution G A intron_variant ESAD-UK 5 37463467 37463467 single base substitution A C intron_variant ESAD-UK 5 37464507 37464507 single base substitution C T intron_variant ESAD-UK 5 37464877 37464877 single base substitution C T intron_variant ESAD-UK 5 37468397 37468397 single base substitution C T intron_variant ESAD-UK 5 37468827 37468827 single base substitution C A intron_variant ESAD-UK 5 37469141 37469141 single base substitution A G intron_variant ESAD-UK 5 37470331 37470331 single base substitution T G intron_variant ESAD-UK 5 37471769 37471769 insertion of <=200bp - T intron_variant ESAD-UK 5 37472140 37472140 single base substitution T A intron_variant ESAD-UK 5 37474180 37474180 single base substitution T A intron_variant ESAD-UK 5 37475463 37475463 single base substitution A T intron_variant ESAD-UK 5 37475463 37475463 single base substitution A T upstream_gene_variant ESAD-UK 5 37476500 37476500 single base substitution C G intron_variant ESAD-UK 5 37476500 37476500 single base substitution C G upstream_gene_variant ESAD-UK 5 37476899 37476899 single base substitution C G intron_variant ESAD-UK 5 37476899 37476899 single base substitution C G upstream_gene_variant ESAD-UK 5 37477428 37477428 single base substitution C A intron_variant ESAD-UK 5 37477428 37477428 single base substitution C A upstream_gene_variant ESAD-UK 5 37478340 37478340 single base substitution T C intron_variant ESAD-UK 5 37478340 37478340 single base substitution T C upstream_gene_variant ESAD-UK 5 37479736 37479736 single base substitution G C intron_variant ESAD-UK 5 37481693 37481693 single base substitution C T intron_variant ESAD-UK 5 37488335 37488340 deletion of <=200bp TCTTTG - intron_variant ESAD-UK 5 37488430 37488430 single base substitution C T intron_variant ESAD-UK 5 37491708 37491708 single base substitution C T intron_variant ESAD-UK 5 37492393 37492393 single base substitution A C intron_variant ESAD-UK 5 37493569 37493569 single base substitution C A intron_variant ESAD-UK 5 37494067 37494067 single base substitution C T intron_variant ESAD-UK 5 37495898 37495898 single base substitution T C intron_variant ESAD-UK 5 37497074 37497074 single base substitution T C intron_variant ESAD-UK 5 37499103 37499103 single base substitution A G intron_variant ESAD-UK 5 37499582 37499582 single base substitution G A intron_variant ESAD-UK 5 37499694 37499694 insertion of <=200bp - TCTCTCTCTCTCTT intron_variant ESAD-UK 5 37500015 37500015 single base substitution A T intron_variant ESAD-UK 5 37500580 37500580 single base substitution G A intron_variant ESAD-UK 5 37500715 37500715 single base substitution A G intron_variant ESAD-UK 5 37503574 37503574 single base substitution G C intron_variant ESAD-UK 5 37505831 37505831 single base substitution C G intron_variant ESAD-UK 5 37506918 37506918 single base substitution G A intron_variant ESAD-UK 5 37507231 37507231 single base substitution C T intron_variant ESAD-UK 5 37507406 37507406 single base substitution A G intron_variant ESAD-UK 5 37510188 37510188 single base substitution C A intron_variant ESAD-UK 5 37511184 37511184 single base substitution G A intron_variant ESAD-UK 5 37514871 37514871 single base substitution C T intron_variant ESAD-UK 5 37515561 37515561 single base substitution C T intron_variant ESAD-UK 5 37517200 37517200 single base substitution C G intron_variant ESAD-UK 5 37518242 37518242 single base substitution C T intron_variant ESAD-UK 5 37518549 37518549 single base substitution A G intron_variant ESAD-UK 5 37519604 37519604 single base substitution C T intron_variant ESAD-UK 5 37520037 37520037 single base substitution A T intron_variant ESAD-UK 5 37522529 37522529 single base substitution C T intron_variant ESAD-UK 5 37523118 37523118 single base substitution A G intron_variant ESAD-UK 5 37524590 37524590 single base substitution C T intron_variant ESAD-UK 5 37526047 37526047 single base substitution T G intron_variant ESAD-UK 5 37526190 37526190 single base substitution G A intron_variant ESAD-UK 5 37526908 37526908 single base substitution G C intron_variant ESAD-UK 5 37528442 37528442 single base substitution G A intron_variant ESAD-UK 5 37529672 37529672 single base substitution A T intron_variant ESAD-UK 5 37530422 37530422 single base substitution T C intron_variant ESAD-UK 5 37531450 37531450 single base substitution C T intron_variant ESAD-UK 5 37534543 37534543 single base substitution G T intron_variant ESAD-UK 5 37535131 37535131 single base substitution A C intron_variant ESAD-UK 5 37535140 37535140 single base substitution C T intron_variant ESAD-UK 5 37536073 37536073 single base substitution C T intron_variant ESAD-UK 5 37536734 37536734 single base substitution C T intron_variant ESAD-UK 5 37541586 37541586 single base substitution A T intron_variant ESAD-UK 5 37541684 37541684 single base substitution C T intron_variant ESAD-UK 5 37542386 37542386 single base substitution T C intron_variant ESAD-UK 5 37542935 37542935 single base substitution G T intron_variant ESAD-UK 5 37543213 37543213 single base substitution C T intron_variant ESAD-UK 5 37544871 37544871 single base substitution G C intron_variant ESAD-UK 5 37545561 37545561 single base substitution A T intron_variant ESAD-UK 5 37545570 37545570 single base substitution T C intron_variant ESAD-UK 5 37545649 37545649 single base substitution T G intron_variant ESAD-UK 5 37546331 37546331 single base substitution T G intron_variant ESAD-UK 5 37546882 37546882 single base substitution G A intron_variant ESAD-UK 5 37547511 37547511 single base substitution A C intron_variant ESAD-UK 5 37548364 37548364 single base substitution A G intron_variant ESAD-UK 5 37551438 37551438 deletion of <=200bp A - intron_variant ESAD-UK 5 37551805 37551805 single base substitution G A intron_variant ESAD-UK 5 37554715 37554715 single base substitution A G intron_variant ESAD-UK 5 37555356 37555356 single base substitution A C intron_variant ESAD-UK 5 37555729 37555729 single base substitution T G intron_variant ESAD-UK 5 37556448 37556448 single base substitution A G intron_variant ESAD-UK 5 37558267 37558268 deletion of <=200bp TG - intron_variant ESAD-UK 5 37558272 37558272 insertion of <=200bp - T intron_variant ESAD-UK 5 37558593 37558593 single base substitution A G intron_variant ESAD-UK 5 37558906 37558906 single base substitution T C intron_variant ESAD-UK 5 37559673 37559673 single base substitution G A intron_variant ESAD-UK 5 37560412 37560412 deletion of <=200bp T - intron_variant ESAD-UK 5 37562230 37562230 single base substitution C A intron_variant ESAD-UK 5 37562969 37562969 single base substitution A G intron_variant ESAD-UK 5 37565036 37565036 single base substitution C G intron_variant ESAD-UK 5 37565463 37565463 single base substitution A G intron_variant ESAD-UK 5 37566400 37566400 single base substitution C G intron_variant ESAD-UK 5 37566934 37566934 single base substitution A T intron_variant ESAD-UK 5 37567796 37567796 single base substitution C T intron_variant ESAD-UK 5 37569704 37569704 single base substitution A C intron_variant ESAD-UK 5 37570058 37570058 single base substitution A C intron_variant ESAD-UK 5 37570610 37570610 single base substitution C T intron_variant ESAD-UK 5 37570805 37570805 single base substitution G A intron_variant ESAD-UK 5 37576935 37576935 single base substitution T A intron_variant ESAD-UK 5 37577632 37577632 single base substitution C T intron_variant ESAD-UK 5 37578044 37578044 single base substitution G A intron_variant ESAD-UK 5 37578687 37578687 single base substitution G A intron_variant ESAD-UK 5 37580122 37580122 single base substitution A G intron_variant ESAD-UK 5 37580392 37580392 single base substitution C T intron_variant ESAD-UK 5 37580439 37580439 single base substitution C T intron_variant ESAD-UK 5 37582980 37582980 single base substitution G A intron_variant ESAD-UK 5 37583001 37583001 single base substitution G A intron_variant ESAD-UK 5 37583220 37583220 single base substitution C T intron_variant ESAD-UK 5 37583243 37583243 single base substitution T C intron_variant ESAD-UK 5 37585256 37585256 single base substitution C G intron_variant ESAD-UK 5 37586253 37586253 single base substitution C G intron_variant ESAD-UK 5 37586261 37586261 single base substitution C T intron_variant ESAD-UK 5 37586906 37586906 single base substitution C T intron_variant ESAD-UK 5 37587445 37587445 deletion of <=200bp T - intron_variant ESAD-UK 5 37588457 37588457 single base substitution C A intron_variant ESAD-UK 5 37590514 37590514 single base substitution G T intron_variant ESAD-UK 5 37590515 37590515 single base substitution T C intron_variant ESAD-UK 5 37590659 37590659 single base substitution G A intron_variant ESAD-UK 5 37591144 37591144 single base substitution A T intron_variant ESAD-UK 5 37591708 37591708 single base substitution C T intron_variant ESAD-UK 5 37593236 37593236 single base substitution A G intron_variant ESAD-UK 5 37593271 37593271 single base substitution T A intron_variant ESAD-UK 5 37598042 37598042 single base substitution A T intron_variant ESAD-UK 5 37598616 37598616 single base substitution G T intron_variant ESAD-UK 5 37598641 37598641 single base substitution A T intron_variant ESAD-UK 5 37598762 37598762 single base substitution T A intron_variant ESAD-UK 5 37598763 37598763 single base substitution A T intron_variant ESAD-UK 5 37599156 37599156 single base substitution T G intron_variant ESAD-UK 5 37599273 37599273 single base substitution A T intron_variant ESAD-UK 5 37599488 37599488 single base substitution A G intron_variant ESAD-UK 5 37599945 37599945 single base substitution A G intron_variant ESAD-UK 5 37601402 37601402 single base substitution A T intron_variant ESAD-UK 5 37601657 37601657 single base substitution C G intron_variant ESAD-UK 5 37602609 37602609 single base substitution T A intron_variant ESAD-UK 5 37603386 37603386 single base substitution C G intron_variant ESAD-UK 5 37603491 37603491 single base substitution A C intron_variant ESAD-UK 5 37604278 37604278 single base substitution T G intron_variant ESAD-UK 5 37606722 37606722 single base substitution A G intron_variant ESAD-UK 5 37608515 37608515 single base substitution T G intron_variant ESAD-UK 5 37610420 37610420 insertion of <=200bp - T intron_variant ESAD-UK 5 37610885 37610885 single base substitution A T intron_variant ESAD-UK 5 37611079 37611079 single base substitution G C intron_variant ESAD-UK 5 37611261 37611261 single base substitution T C intron_variant ESAD-UK 5 37611658 37611658 single base substitution A T intron_variant ESAD-UK 5 37611807 37611807 single base substitution G A intron_variant ESAD-UK 5 37612950 37612950 single base substitution A G intron_variant ESAD-UK 5 37613191 37613191 single base substitution T G intron_variant ESAD-UK 5 37614145 37614145 single base substitution A G intron_variant ESAD-UK 5 37617053 37617053 single base substitution A G intron_variant ESAD-UK 5 37617101 37617101 single base substitution C T intron_variant ESAD-UK 5 37617215 37617215 single base substitution T G intron_variant ESAD-UK 5 37617312 37617312 single base substitution G A intron_variant ESAD-UK 5 37618286 37618286 single base substitution G C intron_variant ESAD-UK 5 37621805 37621805 single base substitution T G intron_variant ESAD-UK 5 37623822 37623822 single base substitution T G intron_variant ESAD-UK 5 37625137 37625137 single base substitution C A intron_variant ESAD-UK 5 37627415 37627415 single base substitution C T intron_variant ESAD-UK 5 37627461 37627461 single base substitution T A intron_variant ESAD-UK 5 37627675 37627675 single base substitution T C intron_variant ESAD-UK 5 37628321 37628321 single base substitution G A intron_variant ESAD-UK 5 37629326 37629326 single base substitution T G intron_variant ESAD-UK 5 37631547 37631547 single base substitution G A intron_variant ESAD-UK 5 37633938 37633938 deletion of <=200bp C - intron_variant ESAD-UK 5 37634529 37634529 single base substitution G A intron_variant ESAD-UK 5 37636331 37636331 single base substitution A C intron_variant ESAD-UK 5 37637067 37637067 single base substitution G C intron_variant ESAD-UK 5 37637412 37637412 single base substitution G A intron_variant ESAD-UK 5 37637691 37637691 single base substitution T C intron_variant ESAD-UK 5 37638060 37638060 single base substitution G A intron_variant ESAD-UK 5 37638090 37638090 single base substitution G T intron_variant ESAD-UK 5 37638974 37638974 single base substitution C G intron_variant ESAD-UK 5 37639622 37639624 deletion of <=200bp TTG - intron_variant ESAD-UK 5 37640234 37640234 single base substitution G A intron_variant ESAD-UK 5 37643268 37643268 single base substitution C T intron_variant ESAD-UK 5 37644715 37644715 single base substitution T G intron_variant ESAD-UK 5 37645480 37645480 single base substitution T A intron_variant ESAD-UK 5 37645482 37645482 single base substitution T G intron_variant ESAD-UK 5 37646820 37646820 single base substitution A T intron_variant ESAD-UK 5 37647969 37647969 single base substitution G A intron_variant ESAD-UK 5 37648777 37648777 single base substitution T C intron_variant ESAD-UK 5 37649753 37649753 single base substitution G T intron_variant ESAD-UK 5 37654195 37654195 single base substitution T G intron_variant ESAD-UK 5 37654244 37654244 single base substitution A C intron_variant ESAD-UK 5 37654323 37654323 single base substitution C A intron_variant ESAD-UK 5 37655456 37655456 single base substitution T G intron_variant ESAD-UK 5 37658012 37658012 single base substitution T C intron_variant ESAD-UK 5 37658198 37658198 insertion of <=200bp - A intron_variant ESAD-UK 5 37659111 37659111 single base substitution G T intron_variant ESAD-UK 5 37659390 37659390 single base substitution T G intron_variant ESAD-UK 5 37659488 37659488 single base substitution C G intron_variant ESAD-UK 5 37659515 37659515 insertion of <=200bp - T intron_variant ESAD-UK 5 37659667 37659667 single base substitution G T intron_variant ESAD-UK 5 37660764 37660764 insertion of <=200bp - T intron_variant ESAD-UK 5 37662938 37662938 single base substitution T C intron_variant ESAD-UK 5 37664641 37664641 single base substitution C A intron_variant ESAD-UK 5 37666218 37666218 single base substitution C G intron_variant ESAD-UK 5 37666980 37666980 single base substitution G T intron_variant ESAD-UK 5 37669346 37669346 single base substitution T G intron_variant ESAD-UK 5 37669504 37669504 single base substitution A T intron_variant ESAD-UK 5 37670484 37670484 deletion of <=200bp G - intron_variant ESAD-UK 5 37671390 37671390 single base substitution C T intron_variant ESAD-UK 5 37672116 37672116 single base substitution A C intron_variant ESAD-UK 5 37674267 37674267 single base substitution C T intron_variant ESAD-UK 5 37680159 37680159 single base substitution G A intron_variant ESAD-UK 5 37680337 37680337 single base substitution T C intron_variant ESAD-UK 5 37680399 37680399 single base substitution A T intron_variant ESAD-UK 5 37681206 37681206 single base substitution C T intron_variant ESAD-UK 5 37681544 37681544 single base substitution C T intron_variant ESAD-UK 5 37684142 37684142 single base substitution T C intron_variant ESAD-UK 5 37685843 37685843 single base substitution A T intron_variant ESAD-UK 5 37686877 37686877 single base substitution G A intron_variant ESAD-UK 5 37687467 37687467 single base substitution A C intron_variant ESAD-UK 5 37689710 37689710 single base substitution A T intron_variant ESAD-UK 5 37690562 37690562 single base substitution A T intron_variant ESAD-UK 5 37690588 37690588 single base substitution G A intron_variant ESAD-UK 5 37691154 37691154 deletion of <=200bp A - intron_variant ESAD-UK 5 37691207 37691207 single base substitution G A intron_variant ESAD-UK 5 37691459 37691459 single base substitution G A intron_variant ESAD-UK 5 37693959 37693959 single base substitution A G intron_variant ESAD-UK 5 37695344 37695344 single base substitution A C intron_variant ESAD-UK 5 37695496 37695496 single base substitution C A intron_variant ESAD-UK 5 37695998 37695998 single base substitution T A intron_variant ESAD-UK 5 37698080 37698080 single base substitution A C downstream_gene_variant ESAD-UK 5 37698080 37698080 single base substitution A C intron_variant ESAD-UK 5 37700329 37700329 single base substitution G C downstream_gene_variant ESAD-UK 5 37700329 37700329 single base substitution G C intron_variant ESAD-UK 5 37701133 37701133 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 37701133 37701133 deletion of <=200bp T - intron_variant ESAD-UK 5 37701699 37701699 single base substitution G T downstream_gene_variant ESAD-UK 5 37701699 37701699 single base substitution G T intron_variant ESAD-UK 5 37704695 37704695 single base substitution T A downstream_gene_variant ESAD-UK 5 37704695 37704695 single base substitution T A intron_variant ESAD-UK 5 37705720 37705720 single base substitution A C downstream_gene_variant ESAD-UK 5 37705720 37705720 single base substitution A C intron_variant ESAD-UK 5 37706610 37706610 single base substitution G C downstream_gene_variant ESAD-UK 5 37706610 37706610 single base substitution G C intron_variant ESAD-UK 5 37709184 37709184 single base substitution G T intron_variant ESAD-UK 5 37709387 37709387 single base substitution G C intron_variant ESAD-UK 5 37709775 37709775 single base substitution C G intron_variant ESAD-UK 5 37709929 37709929 single base substitution C A intron_variant ESAD-UK 5 37710330 37710330 deletion of <=200bp T - intron_variant ESAD-UK 5 37711535 37711535 single base substitution G T intron_variant ESAD-UK 5 37711801 37711801 single base substitution T A intron_variant ESAD-UK 5 37711904 37711904 single base substitution G A intron_variant ESAD-UK 5 37713543 37713543 single base substitution A G intron_variant ESAD-UK 5 37714785 37714785 single base substitution G C intron_variant ESAD-UK 5 37719148 37719148 single base substitution G C intron_variant ESAD-UK 5 37719148 37719148 single base substitution G C upstream_gene_variant ESAD-UK 5 37719216 37719216 single base substitution T G intron_variant ESAD-UK 5 37719216 37719216 single base substitution T G upstream_gene_variant ESAD-UK 5 37719461 37719461 single base substitution C A intron_variant ESAD-UK 5 37719461 37719461 single base substitution C A upstream_gene_variant ESAD-UK 5 37720278 37720278 single base substitution C A intron_variant ESAD-UK 5 37720278 37720278 single base substitution C A upstream_gene_variant ESAD-UK 5 37720831 37720831 single base substitution C T intron_variant ESAD-UK 5 37720831 37720831 single base substitution C T upstream_gene_variant ESAD-UK 5 37724750 37724750 single base substitution A C exon_variant ESAD-UK 5 37724750 37724750 single base substitution A C intron_variant ESAD-UK 5 37724750 37724750 single base substitution A C upstream_gene_variant ESAD-UK 5 37725744 37725744 single base substitution G A intron_variant ESAD-UK 5 37726153 37726153 single base substitution A C intron_variant ESAD-UK 5 37728671 37728671 single base substitution G C intron_variant ESAD-UK 5 37729060 37729060 single base substitution T A intron_variant ESAD-UK 5 37730015 37730015 single base substitution A G intron_variant ESAD-UK 5 37732470 37732470 single base substitution C A intron_variant ESAD-UK 5 37734145 37734145 single base substitution T G intron_variant ESAD-UK 5 37738361 37738361 single base substitution T G intron_variant ESAD-UK 5 37738794 37738794 single base substitution G A intron_variant ESAD-UK 5 37740506 37740506 single base substitution C T intron_variant ESAD-UK 5 37743181 37743181 single base substitution T G intron_variant ESAD-UK 5 37744665 37744665 single base substitution G A intron_variant ESAD-UK 5 37745952 37745952 single base substitution G C intron_variant ESAD-UK 5 37747280 37747280 single base substitution T A intron_variant ESAD-UK 5 37747766 37747766 single base substitution G T intron_variant ESAD-UK 5 37750232 37750232 single base substitution T G intron_variant ESAD-UK 5 37752567 37752567 single base substitution C A intron_variant ESAD-UK 5 37752791 37752791 single base substitution C A 3_prime_UTR_variant ESAD-UK 5 37752791 37752791 single base substitution C A downstream_gene_variant ESAD-UK 5 37752832 37752832 single base substitution A C 3_prime_UTR_variant ESAD-UK 5 37752832 37752832 single base substitution A C downstream_gene_variant ESAD-UK 5 37753691 37753691 single base substitution G A downstream_gene_variant ESAD-UK 5 37755400 37755400 single base substitution C G downstream_gene_variant ESAD-UK 5 37756443 37756443 deletion of <=200bp A - downstream_gene_variant ESCA-CN 5 37484550 37484550 single base substitution G T intron_variant ESCA-CN 5 37688094 37688094 single base substitution C T 3_prime_UTR_variant ESCA-CN 5 37688094 37688094 single base substitution C T intron_variant ESCA-CN 5 37725145 37725145 single base substitution A T exon_variant ESCA-CN 5 37725145 37725145 single base substitution A T synonymous_variant A569A 1707A>T GBM-US 5 37480065 37480065 single base substitution T G exon_variant GBM-US 5 37480065 37480065 single base substitution T G stop_gained Y272* 816T>G KIRC-US 5 37379472 37379472 single base substitution G A exon_variant KIRC-US 5 37379472 37379472 single base substitution G A start_lost M1I 3G>A KIRP-US 5 37381726 37381726 single base substitution C T exon_variant KIRP-US 5 37381726 37381726 single base substitution C T synonymous_variant D38D 114C>T LAML-KR 5 37401504 37401504 single base substitution G A intron_variant LAML-KR 5 37415507 37415507 single base substitution G A intron_variant LAML-KR 5 37415869 37415869 single base substitution G A intron_variant LAML-KR 5 37484029 37484029 single base substitution C T intron_variant LAML-KR 5 37519546 37519546 single base substitution C T intron_variant LAML-KR 5 37554229 37554229 single base substitution A T intron_variant LAML-KR 5 37563916 37563916 single base substitution T C intron_variant LAML-KR 5 37678716 37678716 single base substitution T G intron_variant LAML-KR 5 37678999 37678999 single base substitution A T intron_variant LAML-KR 5 37679029 37679029 single base substitution G A intron_variant LICA-CN 5 37396598 37396598 single base substitution G T exon_variant LICA-CN 5 37396598 37396598 single base substitution G T missense_variant G140C 418G>T LICA-CN 5 37727127 37727127 single base substitution G A exon_variant LICA-CN 5 37727127 37727127 single base substitution G A stop_gained W619* 1857G>A LICA-FR 5 37403702 37403702 single base substitution A T intron_variant LICA-FR 5 37410296 37410296 insertion of <=200bp - T intron_variant LICA-FR 5 37440304 37440304 single base substitution A G intron_variant LICA-FR 5 37454541 37454541 single base substitution A G intron_variant LICA-FR 5 37466858 37466858 single base substitution C T intron_variant LICA-FR 5 37484259 37484259 single base substitution G A intron_variant LICA-FR 5 37497587 37497587 insertion of <=200bp - CTTTCCTTCCCT intron_variant LICA-FR 5 37509563 37509563 single base substitution A T intron_variant LICA-FR 5 37509892 37509892 deletion of <=200bp T - intron_variant LICA-FR 5 37517756 37517756 single base substitution A T intron_variant LICA-FR 5 37523177 37523177 single base substitution G A intron_variant LICA-FR 5 37546178 37546178 single base substitution A G intron_variant LICA-FR 5 37550210 37550210 single base substitution A G intron_variant LICA-FR 5 37586264 37586264 single base substitution G T intron_variant LICA-FR 5 37589352 37589352 insertion of <=200bp - ACACACAC intron_variant LICA-FR 5 37593111 37593111 single base substitution G T intron_variant LICA-FR 5 37636405 37636405 single base substitution A G intron_variant LICA-FR 5 37692059 37692059 single base substitution A G intron_variant LICA-FR 5 37692380 37692380 insertion of <=200bp - TA intron_variant LICA-FR 5 37704985 37704985 insertion of <=200bp - T downstream_gene_variant LICA-FR 5 37704985 37704985 insertion of <=200bp - T intron_variant LICA-FR 5 37712090 37712091 deletion of <=200bp TT - intron_variant LICA-FR 5 37738954 37738954 single base substitution A T intron_variant LICA-FR 5 37747517 37747517 single base substitution G A intron_variant LICA-FR 5 37749254 37749254 single base substitution G A intron_variant LIHC-US 5 37721261 37721261 single base substitution G A exon_variant LIHC-US 5 37721261 37721261 single base substitution G A missense_variant M487I 1461G>A LIHC-US 5 37721261 37721261 single base substitution G A upstream_gene_variant LINC-JP 5 37385401 37385401 single base substitution C T downstream_gene_variant LINC-JP 5 37385401 37385401 single base substitution C T intron_variant LINC-JP 5 37392296 37392296 single base substitution T A intron_variant LINC-JP 5 37395503 37395503 single base substitution T C intron_variant LINC-JP 5 37414825 37414825 single base substitution C T intron_variant LINC-JP 5 37421762 37421762 single base substitution A G intron_variant LINC-JP 5 37422163 37422163 single base substitution C T intron_variant LINC-JP 5 37426912 37426912 single base substitution G T intron_variant LINC-JP 5 37438257 37438257 single base substitution C A intron_variant LINC-JP 5 37457180 37457180 single base substitution T A intron_variant LINC-JP 5 37475689 37475689 single base substitution C T intron_variant LINC-JP 5 37475689 37475689 single base substitution C T upstream_gene_variant LINC-JP 5 37480064 37480064 single base substitution A G exon_variant LINC-JP 5 37480064 37480064 single base substitution A G missense_variant Y272C 815A>G LINC-JP 5 37492186 37492186 single base substitution A G intron_variant LINC-JP 5 37499689 37499689 insertion of <=200bp - TT intron_variant LINC-JP 5 37502385 37502385 single base substitution A G intron_variant LINC-JP 5 37505475 37505475 single base substitution A T intron_variant LINC-JP 5 37510836 37510836 single base substitution A T intron_variant LINC-JP 5 37516266 37516266 single base substitution C A intron_variant LINC-JP 5 37516722 37516722 single base substitution A G intron_variant LINC-JP 5 37516825 37516825 single base substitution A T intron_variant LINC-JP 5 37536610 37536610 single base substitution G A intron_variant LINC-JP 5 37549196 37549196 single base substitution T G intron_variant LINC-JP 5 37549589 37549589 single base substitution A T intron_variant LINC-JP 5 37567228 37567228 single base substitution G A intron_variant LINC-JP 5 37587826 37587826 single base substitution A G intron_variant LINC-JP 5 37597133 37597133 single base substitution A G intron_variant LINC-JP 5 37620141 37620141 single base substitution T C intron_variant LINC-JP 5 37620619 37620619 single base substitution A G intron_variant LINC-JP 5 37622607 37622607 single base substitution A G intron_variant LINC-JP 5 37630652 37630652 single base substitution A G intron_variant LINC-JP 5 37647447 37647447 single base substitution C G intron_variant LINC-JP 5 37675984 37675984 single base substitution C T intron_variant LINC-JP 5 37708109 37708109 single base substitution C G intron_variant LINC-JP 5 37708121 37708121 single base substitution A G intron_variant LINC-JP 5 37710098 37710098 single base substitution T G intron_variant LINC-JP 5 37714989 37714989 single base substitution A G intron_variant LINC-JP 5 37720466 37720466 single base substitution A G intron_variant LINC-JP 5 37720466 37720466 single base substitution A G upstream_gene_variant LINC-JP 5 37743018 37743018 single base substitution A G intron_variant LINC-JP 5 37750700 37750700 single base substitution A G intron_variant LIRI-JP 5 37377975 37377975 single base substitution A G upstream_gene_variant LIRI-JP 5 37380727 37380727 single base substitution A G intron_variant LIRI-JP 5 37381743 37381743 single base substitution A G exon_variant LIRI-JP 5 37381743 37381743 single base substitution A G missense_variant E44G 131A>G LIRI-JP 5 37383083 37383083 single base substitution C T downstream_gene_variant LIRI-JP 5 37383083 37383083 single base substitution C T intron_variant LIRI-JP 5 37387016 37387016 single base substitution G A intron_variant LIRI-JP 5 37389997 37389997 single base substitution A G intron_variant LIRI-JP 5 37390436 37390437 deletion of <=200bp AT - intron_variant LIRI-JP 5 37390467 37390467 single base substitution A G intron_variant LIRI-JP 5 37390720 37390720 single base substitution G A intron_variant LIRI-JP 5 37390800 37390800 single base substitution A T intron_variant LIRI-JP 5 37392486 37392486 single base substitution A T intron_variant LIRI-JP 5 37392817 37392817 single base substitution G T intron_variant LIRI-JP 5 37392847 37392847 single base substitution A G intron_variant LIRI-JP 5 37393169 37393169 single base substitution G C intron_variant LIRI-JP 5 37393895 37393895 single base substitution A G intron_variant LIRI-JP 5 37395798 37395798 single base substitution T G intron_variant LIRI-JP 5 37396977 37396977 single base substitution G A intron_variant LIRI-JP 5 37397097 37397097 single base substitution A G intron_variant LIRI-JP 5 37399119 37399119 single base substitution G A intron_variant LIRI-JP 5 37399842 37399842 single base substitution A G intron_variant LIRI-JP 5 37400400 37400400 single base substitution A C intron_variant LIRI-JP 5 37403383 37403383 single base substitution A G intron_variant LIRI-JP 5 37403471 37403471 single base substitution C G intron_variant LIRI-JP 5 37405031 37405031 single base substitution G A intron_variant LIRI-JP 5 37406578 37406578 single base substitution A T intron_variant LIRI-JP 5 37406746 37406746 single base substitution G A intron_variant LIRI-JP 5 37407982 37407982 single base substitution C G intron_variant LIRI-JP 5 37408010 37408010 single base substitution G A intron_variant LIRI-JP 5 37411221 37411221 single base substitution A G intron_variant LIRI-JP 5 37412146 37412146 single base substitution C T intron_variant LIRI-JP 5 37413258 37413258 single base substitution A G intron_variant LIRI-JP 5 37414598 37414598 single base substitution T G intron_variant LIRI-JP 5 37418931 37418931 single base substitution G A intron_variant LIRI-JP 5 37421795 37421795 single base substitution A G intron_variant LIRI-JP 5 37424335 37424335 deletion of <=200bp A - intron_variant LIRI-JP 5 37424722 37424722 single base substitution A C intron_variant LIRI-JP 5 37425939 37425939 single base substitution G T intron_variant LIRI-JP 5 37427122 37427122 single base substitution C A intron_variant LIRI-JP 5 37427919 37427919 single base substitution T C intron_variant LIRI-JP 5 37431503 37431503 single base substitution C G intron_variant LIRI-JP 5 37431606 37431606 single base substitution C T intron_variant LIRI-JP 5 37432168 37432168 single base substitution A G intron_variant LIRI-JP 5 37432682 37432682 single base substitution T G intron_variant LIRI-JP 5 37433597 37433597 single base substitution G C intron_variant LIRI-JP 5 37433822 37433822 single base substitution A G intron_variant LIRI-JP 5 37434569 37434569 single base substitution G A intron_variant LIRI-JP 5 37435364 37435364 single base substitution T C intron_variant LIRI-JP 5 37438278 37438278 single base substitution A G intron_variant LIRI-JP 5 37438547 37438547 insertion of <=200bp - T intron_variant LIRI-JP 5 37440763 37440763 single base substitution T A intron_variant LIRI-JP 5 37441057 37441057 single base substitution T C intron_variant LIRI-JP 5 37441500 37441500 single base substitution C T intron_variant LIRI-JP 5 37446939 37446939 single base substitution C G intron_variant LIRI-JP 5 37448338 37448338 single base substitution G A intron_variant LIRI-JP 5 37448759 37448759 single base substitution A G intron_variant LIRI-JP 5 37448985 37448985 single base substitution T A intron_variant LIRI-JP 5 37449439 37449439 single base substitution A C intron_variant LIRI-JP 5 37450746 37450746 single base substitution T C intron_variant LIRI-JP 5 37452047 37452047 single base substitution G C intron_variant LIRI-JP 5 37452240 37452240 single base substitution C T intron_variant LIRI-JP 5 37454344 37454344 single base substitution C G intron_variant LIRI-JP 5 37454909 37454909 single base substitution A T intron_variant LIRI-JP 5 37454946 37454946 single base substitution A G intron_variant LIRI-JP 5 37456433 37456433 single base substitution A G intron_variant LIRI-JP 5 37460914 37460914 single base substitution A G intron_variant LIRI-JP 5 37464071 37464071 single base substitution C T intron_variant LIRI-JP 5 37467852 37467852 single base substitution T G intron_variant LIRI-JP 5 37467914 37467914 single base substitution G T intron_variant LIRI-JP 5 37468258 37468258 single base substitution T A intron_variant LIRI-JP 5 37468544 37468544 single base substitution A G intron_variant LIRI-JP 5 37469163 37469163 single base substitution A C intron_variant LIRI-JP 5 37469416 37469416 single base substitution C A intron_variant LIRI-JP 5 37470008 37470008 single base substitution A G intron_variant LIRI-JP 5 37470317 37470318 deletion of <=200bp TA - intron_variant LIRI-JP 5 37470890 37470890 single base substitution A G intron_variant LIRI-JP 5 37474650 37474650 single base substitution A G intron_variant LIRI-JP 5 37474650 37474650 single base substitution A G upstream_gene_variant LIRI-JP 5 37478061 37478061 single base substitution G T intron_variant LIRI-JP 5 37478061 37478061 single base substitution G T upstream_gene_variant LIRI-JP 5 37480306 37480306 single base substitution G A intron_variant LIRI-JP 5 37481949 37481949 single base substitution A G intron_variant LIRI-JP 5 37484829 37484829 single base substitution A T intron_variant LIRI-JP 5 37485662 37485662 single base substitution G C intron_variant LIRI-JP 5 37486132 37486132 single base substitution A G intron_variant LIRI-JP 5 37486742 37486742 single base substitution C A intron_variant LIRI-JP 5 37487282 37487282 single base substitution T G intron_variant LIRI-JP 5 37487591 37487591 single base substitution A G intron_variant LIRI-JP 5 37492212 37492212 single base substitution A G intron_variant LIRI-JP 5 37492317 37492317 single base substitution T G intron_variant LIRI-JP 5 37495383 37495383 single base substitution C T intron_variant LIRI-JP 5 37498668 37498668 single base substitution T G intron_variant LIRI-JP 5 37498944 37498944 single base substitution C A intron_variant LIRI-JP 5 37498965 37498965 single base substitution T C intron_variant LIRI-JP 5 37501772 37501772 single base substitution T G intron_variant LIRI-JP 5 37502298 37502298 single base substitution C A intron_variant LIRI-JP 5 37502419 37502419 single base substitution A G intron_variant LIRI-JP 5 37503218 37503218 single base substitution G A intron_variant LIRI-JP 5 37504045 37504045 single base substitution A G intron_variant LIRI-JP 5 37504649 37504649 single base substitution A G intron_variant LIRI-JP 5 37508243 37508243 single base substitution T G intron_variant LIRI-JP 5 37512198 37512198 single base substitution C T intron_variant LIRI-JP 5 37515552 37515552 single base substitution T A intron_variant LIRI-JP 5 37516377 37516377 single base substitution A G intron_variant LIRI-JP 5 37517503 37517503 single base substitution C T intron_variant LIRI-JP 5 37520009 37520009 single base substitution T C intron_variant LIRI-JP 5 37520107 37520107 single base substitution A T intron_variant LIRI-JP 5 37521044 37521062 deletion of <=200bp ACTAATGTTAGAAGAAAAC - intron_variant LIRI-JP 5 37521767 37521767 single base substitution A T intron_variant LIRI-JP 5 37523069 37523069 single base substitution A G intron_variant LIRI-JP 5 37523667 37523667 single base substitution C T intron_variant LIRI-JP 5 37523934 37523934 single base substitution T C intron_variant LIRI-JP 5 37524385 37524385 single base substitution C T intron_variant LIRI-JP 5 37525494 37525494 single base substitution C T intron_variant LIRI-JP 5 37526011 37526011 single base substitution T C intron_variant LIRI-JP 5 37526012 37526012 single base substitution A G intron_variant LIRI-JP 5 37526664 37526664 single base substitution A G intron_variant LIRI-JP 5 37526789 37526789 single base substitution C T intron_variant LIRI-JP 5 37527803 37527803 single base substitution C T intron_variant LIRI-JP 5 37528471 37528471 single base substitution T G intron_variant LIRI-JP 5 37529197 37529197 single base substitution A G intron_variant LIRI-JP 5 37529579 37529579 single base substitution T A intron_variant LIRI-JP 5 37529822 37529822 single base substitution T G intron_variant LIRI-JP 5 37530417 37530417 single base substitution C G intron_variant LIRI-JP 5 37531170 37531170 single base substitution G A intron_variant LIRI-JP 5 37532871 37532871 single base substitution A G intron_variant LIRI-JP 5 37533138 37533138 single base substitution G C intron_variant LIRI-JP 5 37534047 37534047 single base substitution G A intron_variant LIRI-JP 5 37534202 37534202 single base substitution A G intron_variant LIRI-JP 5 37534208 37534208 single base substitution A G intron_variant LIRI-JP 5 37534987 37534987 single base substitution T C intron_variant LIRI-JP 5 37538635 37538635 single base substitution T A intron_variant LIRI-JP 5 37539808 37539808 single base substitution T C intron_variant LIRI-JP 5 37541043 37541043 single base substitution T G intron_variant LIRI-JP 5 37541498 37541498 single base substitution T A intron_variant LIRI-JP 5 37544080 37544080 single base substitution G A intron_variant LIRI-JP 5 37544290 37544290 single base substitution A G intron_variant LIRI-JP 5 37545302 37545302 single base substitution G A intron_variant LIRI-JP 5 37546649 37546649 single base substitution G T intron_variant LIRI-JP 5 37550633 37550633 single base substitution G C intron_variant LIRI-JP 5 37550870 37550870 single base substitution T C intron_variant LIRI-JP 5 37553182 37553182 single base substitution T G intron_variant LIRI-JP 5 37553542 37553542 single base substitution G T intron_variant LIRI-JP 5 37554354 37554354 single base substitution T C intron_variant LIRI-JP 5 37556117 37556117 single base substitution A T intron_variant LIRI-JP 5 37556277 37556277 single base substitution T C intron_variant LIRI-JP 5 37557302 37557302 single base substitution G A intron_variant LIRI-JP 5 37560074 37560074 single base substitution A G intron_variant LIRI-JP 5 37560455 37560456 deletion of <=200bp CA - intron_variant LIRI-JP 5 37561274 37561274 single base substitution G C intron_variant LIRI-JP 5 37561499 37561499 single base substitution C T intron_variant LIRI-JP 5 37561848 37561848 single base substitution A T intron_variant LIRI-JP 5 37561935 37561935 single base substitution G T intron_variant LIRI-JP 5 37561936 37561936 single base substitution C A intron_variant LIRI-JP 5 37565825 37565825 single base substitution C A intron_variant LIRI-JP 5 37568462 37568462 single base substitution C A intron_variant LIRI-JP 5 37569010 37569010 single base substitution C G intron_variant LIRI-JP 5 37569395 37569395 single base substitution G A intron_variant LIRI-JP 5 37570399 37570399 single base substitution G A intron_variant LIRI-JP 5 37575347 37575347 single base substitution C G intron_variant LIRI-JP 5 37575385 37575385 single base substitution T G intron_variant LIRI-JP 5 37578046 37578046 single base substitution A G intron_variant LIRI-JP 5 37578211 37578212 deletion of <=200bp TC - intron_variant LIRI-JP 5 37579182 37579182 single base substitution G C intron_variant LIRI-JP 5 37579590 37579590 single base substitution G C intron_variant LIRI-JP 5 37580767 37580767 single base substitution T C intron_variant LIRI-JP 5 37581039 37581039 single base substitution C G intron_variant LIRI-JP 5 37581088 37581088 single base substitution A G intron_variant LIRI-JP 5 37582577 37582577 single base substitution A G intron_variant LIRI-JP 5 37583301 37583301 single base substitution G A intron_variant LIRI-JP 5 37584316 37584316 single base substitution A G intron_variant LIRI-JP 5 37584659 37584659 single base substitution A G intron_variant LIRI-JP 5 37585709 37585709 single base substitution T G intron_variant LIRI-JP 5 37586211 37586211 single base substitution G T intron_variant LIRI-JP 5 37587910 37587910 single base substitution C G intron_variant LIRI-JP 5 37589309 37589309 single base substitution G A intron_variant LIRI-JP 5 37589628 37589628 single base substitution A G intron_variant LIRI-JP 5 37589791 37589791 single base substitution T G intron_variant LIRI-JP 5 37590878 37590878 single base substitution G A intron_variant LIRI-JP 5 37591305 37591305 single base substitution C T intron_variant LIRI-JP 5 37592306 37592306 single base substitution G A intron_variant LIRI-JP 5 37592440 37592440 single base substitution A G intron_variant LIRI-JP 5 37595598 37595598 single base substitution A G intron_variant LIRI-JP 5 37596555 37596555 single base substitution G A intron_variant LIRI-JP 5 37596860 37596860 single base substitution A G intron_variant LIRI-JP 5 37597369 37597369 single base substitution A G intron_variant LIRI-JP 5 37597491 37597491 single base substitution T C intron_variant LIRI-JP 5 37597700 37597700 single base substitution A T intron_variant LIRI-JP 5 37599674 37599674 single base substitution G T intron_variant LIRI-JP 5 37599715 37599715 single base substitution C T intron_variant LIRI-JP 5 37600354 37600354 single base substitution G C intron_variant LIRI-JP 5 37600554 37600554 single base substitution G T intron_variant LIRI-JP 5 37600878 37600878 single base substitution A G intron_variant LIRI-JP 5 37602722 37602722 single base substitution T C intron_variant LIRI-JP 5 37606932 37606932 single base substitution C T intron_variant LIRI-JP 5 37608485 37608485 single base substitution A G intron_variant LIRI-JP 5 37609701 37609701 single base substitution T G intron_variant LIRI-JP 5 37610448 37610448 insertion of <=200bp - AG intron_variant LIRI-JP 5 37610701 37610701 single base substitution A G intron_variant LIRI-JP 5 37612665 37612665 single base substitution G A intron_variant LIRI-JP 5 37613700 37613700 single base substitution G A intron_variant LIRI-JP 5 37613857 37613857 single base substitution T G intron_variant LIRI-JP 5 37614078 37614078 single base substitution A G intron_variant LIRI-JP 5 37614102 37614102 single base substitution C A intron_variant LIRI-JP 5 37614119 37614119 single base substitution A T intron_variant LIRI-JP 5 37614647 37614647 single base substitution A T intron_variant LIRI-JP 5 37614887 37614887 single base substitution T C intron_variant LIRI-JP 5 37616093 37616093 single base substitution C T intron_variant LIRI-JP 5 37617356 37617356 single base substitution A G intron_variant LIRI-JP 5 37618914 37618914 single base substitution T G intron_variant LIRI-JP 5 37626448 37626448 single base substitution C G intron_variant LIRI-JP 5 37627871 37627871 single base substitution A G intron_variant LIRI-JP 5 37627896 37627896 single base substitution A T intron_variant LIRI-JP 5 37627916 37627916 single base substitution A G intron_variant LIRI-JP 5 37628020 37628020 single base substitution T C intron_variant LIRI-JP 5 37628039 37628039 single base substitution T C intron_variant LIRI-JP 5 37628285 37628285 single base substitution A C intron_variant LIRI-JP 5 37628861 37628861 single base substitution C A intron_variant LIRI-JP 5 37631229 37631229 single base substitution T G intron_variant LIRI-JP 5 37632676 37632676 single base substitution A G intron_variant LIRI-JP 5 37636677 37636677 single base substitution A G intron_variant LIRI-JP 5 37636753 37636753 single base substitution G T intron_variant LIRI-JP 5 37641382 37641382 single base substitution T C intron_variant LIRI-JP 5 37644614 37644614 single base substitution T C intron_variant LIRI-JP 5 37645950 37645950 single base substitution T C intron_variant LIRI-JP 5 37646885 37646885 single base substitution A C intron_variant LIRI-JP 5 37647557 37647557 single base substitution G C intron_variant LIRI-JP 5 37648880 37648880 single base substitution T G intron_variant LIRI-JP 5 37650903 37650903 single base substitution A T intron_variant LIRI-JP 5 37651257 37651257 single base substitution C T intron_variant LIRI-JP 5 37654628 37654628 single base substitution T C intron_variant LIRI-JP 5 37660985 37660985 single base substitution C A intron_variant LIRI-JP 5 37661544 37661544 single base substitution A G intron_variant LIRI-JP 5 37662800 37662800 single base substitution T A intron_variant LIRI-JP 5 37665191 37665191 single base substitution A G intron_variant LIRI-JP 5 37668014 37668014 single base substitution T G intron_variant LIRI-JP 5 37669001 37669001 single base substitution T A intron_variant LIRI-JP 5 37669264 37669264 single base substitution A G intron_variant LIRI-JP 5 37670949 37670949 single base substitution C T intron_variant LIRI-JP 5 37670974 37670974 single base substitution A G intron_variant LIRI-JP 5 37671526 37671526 single base substitution G T intron_variant LIRI-JP 5 37678375 37678375 single base substitution C T intron_variant LIRI-JP 5 37679633 37679633 single base substitution G T intron_variant LIRI-JP 5 37679634 37679634 single base substitution G T intron_variant LIRI-JP 5 37679811 37679811 single base substitution T C intron_variant LIRI-JP 5 37683356 37683356 single base substitution C T intron_variant LIRI-JP 5 37684172 37684172 single base substitution A G intron_variant LIRI-JP 5 37686509 37686509 single base substitution A G intron_variant LIRI-JP 5 37686686 37686686 single base substitution A G intron_variant LIRI-JP 5 37687771 37687771 single base substitution G T intron_variant LIRI-JP 5 37688526 37688526 single base substitution A T intron_variant LIRI-JP 5 37689945 37689945 single base substitution G A intron_variant LIRI-JP 5 37690055 37690055 single base substitution A C intron_variant LIRI-JP 5 37692147 37692147 single base substitution A G intron_variant LIRI-JP 5 37694501 37694501 single base substitution G C intron_variant LIRI-JP 5 37694876 37694876 single base substitution A T intron_variant LIRI-JP 5 37697144 37697144 single base substitution A G intron_variant LIRI-JP 5 37697704 37697704 single base substitution T C intron_variant LIRI-JP 5 37702739 37702739 single base substitution A G downstream_gene_variant LIRI-JP 5 37702739 37702739 single base substitution A G intron_variant LIRI-JP 5 37704859 37704859 single base substitution A G downstream_gene_variant LIRI-JP 5 37704859 37704859 single base substitution A G intron_variant LIRI-JP 5 37706952 37706952 single base substitution A T downstream_gene_variant LIRI-JP 5 37706952 37706952 single base substitution A T intron_variant LIRI-JP 5 37707374 37707374 single base substitution A G downstream_gene_variant LIRI-JP 5 37707374 37707374 single base substitution A G intron_variant LIRI-JP 5 37712491 37712491 single base substitution A G intron_variant LIRI-JP 5 37715977 37715977 single base substitution T G intron_variant LIRI-JP 5 37716412 37716412 single base substitution T G intron_variant LIRI-JP 5 37716795 37716795 single base substitution A G intron_variant LIRI-JP 5 37718424 37718424 single base substitution T A intron_variant LIRI-JP 5 37718424 37718424 single base substitution T A upstream_gene_variant LIRI-JP 5 37718803 37718803 single base substitution A C intron_variant LIRI-JP 5 37718803 37718803 single base substitution A C upstream_gene_variant LIRI-JP 5 37720471 37720471 single base substitution T G intron_variant LIRI-JP 5 37720471 37720471 single base substitution T G upstream_gene_variant LIRI-JP 5 37722224 37722224 single base substitution G A exon_variant LIRI-JP 5 37722224 37722224 single base substitution G A intron_variant LIRI-JP 5 37722224 37722224 single base substitution G A upstream_gene_variant LIRI-JP 5 37722947 37722947 single base substitution C A exon_variant LIRI-JP 5 37722947 37722947 single base substitution C A intron_variant LIRI-JP 5 37722947 37722947 single base substitution C A upstream_gene_variant LIRI-JP 5 37723845 37723845 single base substitution G T exon_variant LIRI-JP 5 37723845 37723845 single base substitution G T intron_variant LIRI-JP 5 37723845 37723845 single base substitution G T upstream_gene_variant LIRI-JP 5 37723870 37723870 single base substitution A G exon_variant LIRI-JP 5 37723870 37723870 single base substitution A G intron_variant LIRI-JP 5 37723870 37723870 single base substitution A G upstream_gene_variant LIRI-JP 5 37725592 37725592 single base substitution A G intron_variant LIRI-JP 5 37726624 37726624 single base substitution T C intron_variant LIRI-JP 5 37727020 37727020 deletion of <=200bp C - exon_variant LIRI-JP 5 37727020 37727020 deletion of <=200bp C - frameshift_variant L584 LIRI-JP 5 37727504 37727504 single base substitution G A intron_variant LIRI-JP 5 37731937 37731937 single base substitution A G intron_variant LIRI-JP 5 37732865 37732865 single base substitution G A intron_variant LIRI-JP 5 37734337 37734337 single base substitution A G intron_variant LIRI-JP 5 37738425 37738425 single base substitution A T intron_variant LIRI-JP 5 37739345 37739345 single base substitution C T intron_variant LIRI-JP 5 37739442 37739442 single base substitution T A intron_variant LIRI-JP 5 37739558 37739558 single base substitution A G intron_variant LIRI-JP 5 37740013 37740013 deletion of <=200bp C - intron_variant LIRI-JP 5 37740671 37740671 single base substitution C T intron_variant LIRI-JP 5 37741905 37741905 single base substitution T G intron_variant LIRI-JP 5 37742051 37742051 single base substitution T G intron_variant LIRI-JP 5 37744355 37744355 single base substitution C T intron_variant LIRI-JP 5 37749255 37749255 single base substitution C T intron_variant LUSC-KR 5 37374358 37374358 single base substitution A C upstream_gene_variant LUSC-KR 5 37377464 37377464 single base substitution G C upstream_gene_variant LUSC-KR 5 37377855 37377855 single base substitution A G upstream_gene_variant LUSC-KR 5 37381752 37381752 single base substitution G A exon_variant LUSC-KR 5 37381752 37381752 single base substitution G A missense_variant R47Q 140G>A LUSC-KR 5 37382475 37382475 single base substitution C T downstream_gene_variant LUSC-KR 5 37382475 37382475 single base substitution C T intron_variant LUSC-KR 5 37384065 37384065 single base substitution A G downstream_gene_variant LUSC-KR 5 37384065 37384065 single base substitution A G intron_variant LUSC-KR 5 37386514 37386514 single base substitution C G downstream_gene_variant LUSC-KR 5 37386514 37386514 single base substitution C G intron_variant LUSC-KR 5 37386817 37386817 single base substitution A T downstream_gene_variant LUSC-KR 5 37386817 37386817 single base substitution A T intron_variant LUSC-KR 5 37390459 37390459 single base substitution G T intron_variant LUSC-KR 5 37391811 37391811 single base substitution G C intron_variant LUSC-KR 5 37393133 37393133 single base substitution G T intron_variant LUSC-KR 5 37395575 37395575 single base substitution G A intron_variant LUSC-KR 5 37395610 37395610 single base substitution G C intron_variant LUSC-KR 5 37396333 37396333 single base substitution A T intron_variant LUSC-KR 5 37396594 37396594 single base substitution C G exon_variant LUSC-KR 5 37396594 37396594 single base substitution C G missense_variant I138M 414C>G LUSC-KR 5 37396666 37396666 single base substitution A G exon_variant LUSC-KR 5 37396666 37396666 single base substitution A G synonymous_variant E162E 486A>G LUSC-KR 5 37398916 37398916 single base substitution A C intron_variant LUSC-KR 5 37399198 37399198 single base substitution G T intron_variant LUSC-KR 5 37401122 37401122 single base substitution A G intron_variant LUSC-KR 5 37406842 37406842 single base substitution T C intron_variant LUSC-KR 5 37413341 37413341 single base substitution T C intron_variant LUSC-KR 5 37414854 37414854 single base substitution C T intron_variant LUSC-KR 5 37415507 37415507 single base substitution G A intron_variant LUSC-KR 5 37415670 37415670 single base substitution C T intron_variant LUSC-KR 5 37415869 37415869 single base substitution G A intron_variant LUSC-KR 5 37417969 37417969 single base substitution G C intron_variant LUSC-KR 5 37419557 37419557 single base substitution C G intron_variant LUSC-KR 5 37424284 37424284 single base substitution A T intron_variant LUSC-KR 5 37427421 37427421 single base substitution G C intron_variant LUSC-KR 5 37430779 37430779 single base substitution C G intron_variant LUSC-KR 5 37431758 37431758 single base substitution C G intron_variant LUSC-KR 5 37444496 37444496 single base substitution A C intron_variant LUSC-KR 5 37447806 37447806 single base substitution G T intron_variant LUSC-KR 5 37447987 37447987 single base substitution A G intron_variant LUSC-KR 5 37451249 37451249 single base substitution C G intron_variant LUSC-KR 5 37451300 37451300 single base substitution T C intron_variant LUSC-KR 5 37452495 37452495 single base substitution G T intron_variant LUSC-KR 5 37459181 37459181 single base substitution T G intron_variant LUSC-KR 5 37460000 37460000 single base substitution T A intron_variant LUSC-KR 5 37460171 37460171 single base substitution G A intron_variant LUSC-KR 5 37462657 37462657 single base substitution G T intron_variant LUSC-KR 5 37466383 37466383 single base substitution A G intron_variant LUSC-KR 5 37466530 37466530 single base substitution T C intron_variant LUSC-KR 5 37466531 37466531 single base substitution G A intron_variant LUSC-KR 5 37466547 37466547 single base substitution A G intron_variant LUSC-KR 5 37468041 37468041 single base substitution C T intron_variant LUSC-KR 5 37475938 37475938 single base substitution A G intron_variant LUSC-KR 5 37475938 37475938 single base substitution A G upstream_gene_variant LUSC-KR 5 37479588 37479588 single base substitution C G exon_variant LUSC-KR 5 37479588 37479588 single base substitution C G intron_variant LUSC-KR 5 37479853 37479853 single base substitution T G intron_variant LUSC-KR 5 37484055 37484055 single base substitution G T intron_variant LUSC-KR 5 37486896 37486896 single base substitution T C intron_variant LUSC-KR 5 37488198 37488198 single base substitution C T intron_variant LUSC-KR 5 37495943 37495943 single base substitution C T intron_variant LUSC-KR 5 37496140 37496140 single base substitution C A intron_variant LUSC-KR 5 37496629 37496629 single base substitution C G intron_variant LUSC-KR 5 37497529 37497529 single base substitution C G intron_variant LUSC-KR 5 37499860 37499860 single base substitution G T intron_variant LUSC-KR 5 37500264 37500264 single base substitution C G intron_variant LUSC-KR 5 37505069 37505069 single base substitution G C intron_variant LUSC-KR 5 37510041 37510041 single base substitution G A intron_variant LUSC-KR 5 37510136 37510136 single base substitution G C intron_variant LUSC-KR 5 37511083 37511083 single base substitution A G intron_variant LUSC-KR 5 37514941 37514941 single base substitution G T intron_variant LUSC-KR 5 37517487 37517487 single base substitution G T intron_variant LUSC-KR 5 37519498 37519498 single base substitution G C intron_variant LUSC-KR 5 37524653 37524653 single base substitution G T intron_variant LUSC-KR 5 37525200 37525200 single base substitution G A intron_variant LUSC-KR 5 37526708 37526708 single base substitution C A intron_variant LUSC-KR 5 37527659 37527659 single base substitution C G intron_variant LUSC-KR 5 37529010 37529010 single base substitution G T intron_variant LUSC-KR 5 37532677 37532677 single base substitution C T intron_variant LUSC-KR 5 37539073 37539073 single base substitution G T intron_variant LUSC-KR 5 37547490 37547490 single base substitution A C intron_variant LUSC-KR 5 37550850 37550850 single base substitution G T intron_variant LUSC-KR 5 37556051 37556051 single base substitution C A intron_variant LUSC-KR 5 37556353 37556353 single base substitution C A intron_variant LUSC-KR 5 37559383 37559383 single base substitution A G intron_variant LUSC-KR 5 37561409 37561409 single base substitution G T intron_variant LUSC-KR 5 37562758 37562758 single base substitution A G intron_variant LUSC-KR 5 37562835 37562835 single base substitution C A intron_variant LUSC-KR 5 37563946 37563946 single base substitution T A intron_variant LUSC-KR 5 37563992 37563992 single base substitution G A intron_variant LUSC-KR 5 37564006 37564006 single base substitution G C intron_variant LUSC-KR 5 37564077 37564077 single base substitution T A intron_variant LUSC-KR 5 37564291 37564291 single base substitution G A intron_variant LUSC-KR 5 37564616 37564616 single base substitution G T intron_variant LUSC-KR 5 37564818 37564818 single base substitution A G intron_variant LUSC-KR 5 37569319 37569319 single base substitution G C intron_variant LUSC-KR 5 37575850 37575850 single base substitution G T intron_variant LUSC-KR 5 37579863 37579863 single base substitution G T intron_variant LUSC-KR 5 37583201 37583201 single base substitution G A intron_variant LUSC-KR 5 37585416 37585416 single base substitution A G intron_variant LUSC-KR 5 37587991 37587991 single base substitution C T intron_variant LUSC-KR 5 37592311 37592311 single base substitution A G intron_variant LUSC-KR 5 37594945 37594945 single base substitution A T intron_variant LUSC-KR 5 37598845 37598845 single base substitution C G intron_variant LUSC-KR 5 37602956 37602956 single base substitution G T intron_variant LUSC-KR 5 37608572 37608572 single base substitution G C intron_variant LUSC-KR 5 37611304 37611304 single base substitution A G intron_variant LUSC-KR 5 37616533 37616533 single base substitution G C intron_variant LUSC-KR 5 37616685 37616685 single base substitution G T intron_variant LUSC-KR 5 37616991 37616991 single base substitution A G intron_variant LUSC-KR 5 37617102 37617102 single base substitution G T intron_variant LUSC-KR 5 37618557 37618557 single base substitution G A intron_variant LUSC-KR 5 37619686 37619686 single base substitution A T intron_variant LUSC-KR 5 37619750 37619750 single base substitution A G intron_variant LUSC-KR 5 37621515 37621515 single base substitution A G intron_variant LUSC-KR 5 37626652 37626652 single base substitution A T intron_variant LUSC-KR 5 37628728 37628728 single base substitution G T intron_variant LUSC-KR 5 37630333 37630333 single base substitution G A intron_variant LUSC-KR 5 37630465 37630465 single base substitution G T intron_variant LUSC-KR 5 37633933 37633933 single base substitution A G intron_variant LUSC-KR 5 37634914 37634914 single base substitution C A intron_variant LUSC-KR 5 37634922 37634922 single base substitution G T intron_variant LUSC-KR 5 37635430 37635430 single base substitution G T intron_variant LUSC-KR 5 37635561 37635561 single base substitution C T intron_variant LUSC-KR 5 37637120 37637120 single base substitution C G intron_variant LUSC-KR 5 37647296 37647296 single base substitution G T intron_variant LUSC-KR 5 37648017 37648017 single base substitution A G intron_variant LUSC-KR 5 37652734 37652734 single base substitution G C intron_variant LUSC-KR 5 37653325 37653325 single base substitution T A intron_variant LUSC-KR 5 37653644 37653644 single base substitution G T intron_variant LUSC-KR 5 37654755 37654755 single base substitution A G intron_variant LUSC-KR 5 37655595 37655595 single base substitution G A intron_variant LUSC-KR 5 37655706 37655706 single base substitution G T intron_variant LUSC-KR 5 37660260 37660260 single base substitution A T intron_variant LUSC-KR 5 37660396 37660396 single base substitution G A intron_variant LUSC-KR 5 37664897 37664897 single base substitution G T intron_variant LUSC-KR 5 37669362 37669362 single base substitution G T intron_variant LUSC-KR 5 37669363 37669363 single base substitution G T intron_variant LUSC-KR 5 37670290 37670290 single base substitution C G intron_variant LUSC-KR 5 37675905 37675905 single base substitution G C intron_variant LUSC-KR 5 37678977 37678977 single base substitution G T intron_variant LUSC-KR 5 37679838 37679838 single base substitution G A intron_variant LUSC-KR 5 37680532 37680532 single base substitution C G intron_variant LUSC-KR 5 37684937 37684937 single base substitution G C intron_variant LUSC-KR 5 37685058 37685058 single base substitution T C intron_variant LUSC-KR 5 37688814 37688814 single base substitution G T intron_variant LUSC-KR 5 37692773 37692773 single base substitution C T intron_variant LUSC-KR 5 37699155 37699155 single base substitution G A downstream_gene_variant LUSC-KR 5 37699155 37699155 single base substitution G A intron_variant LUSC-KR 5 37701815 37701815 single base substitution G A downstream_gene_variant LUSC-KR 5 37701815 37701815 single base substitution G A intron_variant LUSC-KR 5 37702906 37702906 single base substitution C T downstream_gene_variant LUSC-KR 5 37702906 37702906 single base substitution C T intron_variant LUSC-KR 5 37706292 37706292 single base substitution G T downstream_gene_variant LUSC-KR 5 37706292 37706292 single base substitution G T intron_variant LUSC-KR 5 37707674 37707674 single base substitution A T downstream_gene_variant LUSC-KR 5 37707674 37707674 single base substitution A T intron_variant LUSC-KR 5 37708920 37708920 single base substitution C T intron_variant LUSC-KR 5 37715769 37715769 single base substitution G A intron_variant LUSC-KR 5 37716162 37716162 single base substitution A T intron_variant LUSC-KR 5 37716416 37716416 single base substitution G T intron_variant LUSC-KR 5 37717868 37717868 single base substitution C G intron_variant LUSC-KR 5 37717868 37717868 single base substitution C G upstream_gene_variant LUSC-KR 5 37718218 37718218 single base substitution T A intron_variant LUSC-KR 5 37718218 37718218 single base substitution T A upstream_gene_variant LUSC-KR 5 37719461 37719461 single base substitution C A intron_variant LUSC-KR 5 37719461 37719461 single base substitution C A upstream_gene_variant LUSC-KR 5 37720148 37720148 single base substitution C T intron_variant LUSC-KR 5 37720148 37720148 single base substitution C T upstream_gene_variant LUSC-KR 5 37720741 37720741 single base substitution G A intron_variant LUSC-KR 5 37720741 37720741 single base substitution G A upstream_gene_variant LUSC-KR 5 37725181 37725181 single base substitution G C intron_variant LUSC-KR 5 37727458 37727458 single base substitution G C intron_variant LUSC-KR 5 37734604 37734604 single base substitution G A intron_variant LUSC-KR 5 37735629 37735629 single base substitution G A intron_variant LUSC-KR 5 37740476 37740476 single base substitution T G intron_variant LUSC-KR 5 37740518 37740518 single base substitution A T intron_variant LUSC-KR 5 37740993 37740993 single base substitution G C intron_variant LUSC-KR 5 37742555 37742555 single base substitution G A intron_variant LUSC-KR 5 37743114 37743114 single base substitution G T intron_variant LUSC-KR 5 37743335 37743335 single base substitution G T intron_variant LUSC-KR 5 37743348 37743348 single base substitution G T intron_variant LUSC-KR 5 37745711 37745711 single base substitution A G intron_variant LUSC-KR 5 37749547 37749547 single base substitution G T intron_variant LUSC-KR 5 37753474 37753474 single base substitution A C 3_prime_UTR_variant LUSC-KR 5 37753474 37753474 single base substitution A C downstream_gene_variant LUSC-KR 5 37757083 37757083 single base substitution G T downstream_gene_variant LUSC-US 5 37392194 37392194 single base substitution G A exon_variant LUSC-US 5 37392194 37392194 single base substitution G A missense_variant V90I 268G>A LUSC-US 5 37443371 37443371 single base substitution G T exon_variant LUSC-US 5 37443371 37443371 single base substitution G T missense_variant A195S 583G>T LUSC-US 5 37605177 37605177 single base substitution C A exon_variant LUSC-US 5 37605177 37605177 single base substitution C A missense_variant T310K 929C>A LUSC-US 5 37605225 37605225 single base substitution G T exon_variant LUSC-US 5 37605225 37605225 single base substitution G T missense_variant R326L 977G>T LUSC-US 5 37723010 37723010 single base substitution C T exon_variant LUSC-US 5 37723010 37723010 single base substitution C T missense_variant T524I 1571C>T LUSC-US 5 37723010 37723010 single base substitution C T upstream_gene_variant MALY-DE 5 37389887 37389887 single base substitution T C intron_variant MALY-DE 5 37396509 37396509 single base substitution C T exon_variant MALY-DE 5 37396509 37396509 single base substitution C T missense_variant S110F 329C>T MALY-DE 5 37405440 37405440 single base substitution T A intron_variant MALY-DE 5 37412331 37412331 single base substitution A C intron_variant MALY-DE 5 37422859 37422859 single base substitution C T intron_variant MALY-DE 5 37427849 37427849 single base substitution C T intron_variant MALY-DE 5 37471988 37471988 single base substitution T C intron_variant MALY-DE 5 37472241 37472241 single base substitution T G intron_variant MALY-DE 5 37476477 37476477 single base substitution C T intron_variant MALY-DE 5 37476477 37476477 single base substitution C T upstream_gene_variant MALY-DE 5 37485961 37485968 deletion of <=200bp TTTTTTTT - intron_variant MALY-DE 5 37487216 37487216 deletion of <=200bp A - intron_variant MALY-DE 5 37495454 37495454 single base substitution A G intron_variant MALY-DE 5 37495545 37495546 deletion of <=200bp TC - intron_variant MALY-DE 5 37515166 37515166 single base substitution T G intron_variant MALY-DE 5 37516223 37516223 single base substitution T G intron_variant MALY-DE 5 37550018 37550018 single base substitution C T intron_variant MALY-DE 5 37550072 37550072 single base substitution T A intron_variant MALY-DE 5 37557096 37557096 single base substitution C T intron_variant MALY-DE 5 37558408 37558408 single base substitution C T intron_variant MALY-DE 5 37559347 37559347 single base substitution C G intron_variant MALY-DE 5 37566605 37566605 single base substitution T A intron_variant MALY-DE 5 37576130 37576130 insertion of <=200bp - TTCC intron_variant MALY-DE 5 37595779 37595779 single base substitution C G intron_variant MALY-DE 5 37597820 37597820 single base substitution G A intron_variant MALY-DE 5 37598644 37598644 single base substitution T C intron_variant MALY-DE 5 37611652 37611652 single base substitution T A intron_variant MALY-DE 5 37621449 37621449 deletion of <=200bp T - intron_variant MALY-DE 5 37629975 37629975 single base substitution C A intron_variant MALY-DE 5 37635665 37635696 deletion of <=200bp TTTTAAAAATAGATAAATATTTGGTGTAGAAG - intron_variant MALY-DE 5 37636584 37636584 single base substitution C T intron_variant MALY-DE 5 37636950 37636950 insertion of <=200bp - A intron_variant MALY-DE 5 37642270 37642270 single base substitution T C intron_variant MALY-DE 5 37653327 37653327 single base substitution C T intron_variant MALY-DE 5 37655926 37655926 single base substitution G A intron_variant MALY-DE 5 37657146 37657146 single base substitution G A intron_variant MALY-DE 5 37664338 37664338 single base substitution T G intron_variant MALY-DE 5 37670237 37670237 single base substitution C T intron_variant MALY-DE 5 37683308 37683308 single base substitution C T intron_variant MALY-DE 5 37686749 37686749 single base substitution G A intron_variant MALY-DE 5 37696435 37696435 single base substitution A G intron_variant MALY-DE 5 37696679 37696679 single base substitution C T intron_variant MALY-DE 5 37704824 37704824 single base substitution G T downstream_gene_variant MALY-DE 5 37704824 37704824 single base substitution G T intron_variant MALY-DE 5 37723871 37723871 single base substitution T G exon_variant MALY-DE 5 37723871 37723871 single base substitution T G intron_variant MALY-DE 5 37723871 37723871 single base substitution T G upstream_gene_variant MALY-DE 5 37734728 37734728 single base substitution G T intron_variant MALY-DE 5 37745080 37745080 single base substitution A T intron_variant MALY-DE 5 37752132 37752132 single base substitution A T intron_variant MELA-AU 5 37374427 37374428 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 37374531 37374531 single base substitution G A upstream_gene_variant MELA-AU 5 37375069 37375069 single base substitution T A upstream_gene_variant MELA-AU 5 37375086 37375086 single base substitution G A upstream_gene_variant MELA-AU 5 37376200 37376200 single base substitution G A upstream_gene_variant MELA-AU 5 37376230 37376231 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 37376350 37376350 single base substitution C T upstream_gene_variant MELA-AU 5 37376357 37376357 single base substitution G A upstream_gene_variant MELA-AU 5 37376513 37376513 single base substitution G T upstream_gene_variant MELA-AU 5 37376629 37376629 single base substitution C T upstream_gene_variant MELA-AU 5 37376686 37376686 single base substitution C T upstream_gene_variant MELA-AU 5 37377134 37377134 single base substitution C T upstream_gene_variant MELA-AU 5 37377451 37377451 single base substitution C G upstream_gene_variant MELA-AU 5 37377893 37377893 single base substitution G A upstream_gene_variant MELA-AU 5 37378166 37378166 single base substitution C T upstream_gene_variant MELA-AU 5 37378503 37378503 single base substitution G T upstream_gene_variant MELA-AU 5 37378595 37378595 single base substitution C T upstream_gene_variant MELA-AU 5 37379332 37379332 single base substitution G A 5_prime_UTR_variant MELA-AU 5 37379332 37379332 single base substitution G A upstream_gene_variant MELA-AU 5 37379385 37379385 single base substitution C T 5_prime_UTR_variant MELA-AU 5 37379385 37379385 single base substitution C T upstream_gene_variant MELA-AU 5 37379828 37379828 single base substitution A G intron_variant MELA-AU 5 37380150 37380150 single base substitution C T intron_variant MELA-AU 5 37380311 37380311 single base substitution A C intron_variant MELA-AU 5 37380509 37380509 single base substitution C T intron_variant MELA-AU 5 37380615 37380615 single base substitution T A intron_variant MELA-AU 5 37380712 37380712 single base substitution G A intron_variant MELA-AU 5 37381026 37381026 single base substitution G A intron_variant MELA-AU 5 37381179 37381179 single base substitution C T intron_variant MELA-AU 5 37381375 37381375 single base substitution C T intron_variant MELA-AU 5 37381563 37381563 single base substitution T C intron_variant MELA-AU 5 37382149 37382149 single base substitution C T downstream_gene_variant MELA-AU 5 37382149 37382149 single base substitution C T intron_variant MELA-AU 5 37382604 37382604 single base substitution C T downstream_gene_variant MELA-AU 5 37382604 37382604 single base substitution C T intron_variant MELA-AU 5 37382670 37382670 deletion of <=200bp C - downstream_gene_variant MELA-AU 5 37382670 37382670 deletion of <=200bp C - intron_variant MELA-AU 5 37383365 37383365 single base substitution T A downstream_gene_variant MELA-AU 5 37383365 37383365 single base substitution T A intron_variant MELA-AU 5 37383560 37383560 single base substitution C T downstream_gene_variant MELA-AU 5 37383560 37383560 single base substitution C T intron_variant MELA-AU 5 37383806 37383806 single base substitution G A downstream_gene_variant MELA-AU 5 37383806 37383806 single base substitution G A intron_variant MELA-AU 5 37383883 37383883 single base substitution C T downstream_gene_variant MELA-AU 5 37383883 37383883 single base substitution C T intron_variant MELA-AU 5 37384116 37384116 single base substitution C T downstream_gene_variant MELA-AU 5 37384116 37384116 single base substitution C T intron_variant MELA-AU 5 37384645 37384645 single base substitution C T downstream_gene_variant MELA-AU 5 37384645 37384645 single base substitution C T intron_variant MELA-AU 5 37384921 37384921 single base substitution C T downstream_gene_variant MELA-AU 5 37384921 37384921 single base substitution C T intron_variant MELA-AU 5 37384923 37384923 single base substitution C T downstream_gene_variant MELA-AU 5 37384923 37384923 single base substitution C T intron_variant MELA-AU 5 37385117 37385124 deletion of <=200bp AGGACGGC - downstream_gene_variant MELA-AU 5 37385117 37385124 deletion of <=200bp AGGACGGC - intron_variant MELA-AU 5 37387977 37387977 single base substitution C T intron_variant MELA-AU 5 37388164 37388164 single base substitution T C intron_variant MELA-AU 5 37388780 37388780 single base substitution T A intron_variant MELA-AU 5 37388952 37388952 single base substitution C T intron_variant MELA-AU 5 37389547 37389547 single base substitution C A intron_variant MELA-AU 5 37389712 37389712 single base substitution C T intron_variant MELA-AU 5 37389803 37389803 single base substitution C T intron_variant MELA-AU 5 37390240 37390240 single base substitution C T intron_variant MELA-AU 5 37390305 37390305 single base substitution T A intron_variant MELA-AU 5 37390480 37390480 single base substitution C T intron_variant MELA-AU 5 37392528 37392528 single base substitution C T intron_variant MELA-AU 5 37392837 37392837 single base substitution C T intron_variant MELA-AU 5 37392869 37392869 single base substitution C T intron_variant MELA-AU 5 37393469 37393469 single base substitution C T intron_variant MELA-AU 5 37393635 37393635 single base substitution T A intron_variant MELA-AU 5 37393825 37393825 single base substitution C T intron_variant MELA-AU 5 37394146 37394147 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 5 37394730 37394730 single base substitution C T intron_variant MELA-AU 5 37395075 37395075 single base substitution C T intron_variant MELA-AU 5 37395161 37395161 single base substitution C T intron_variant MELA-AU 5 37395909 37395909 single base substitution T A intron_variant MELA-AU 5 37395993 37395993 single base substitution C T intron_variant MELA-AU 5 37396815 37396815 single base substitution C T intron_variant MELA-AU 5 37398929 37398929 single base substitution G A intron_variant MELA-AU 5 37399050 37399051 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37399565 37399565 single base substitution C T intron_variant MELA-AU 5 37399588 37399588 single base substitution C T intron_variant MELA-AU 5 37400029 37400029 single base substitution T A intron_variant MELA-AU 5 37400282 37400282 single base substitution T A intron_variant MELA-AU 5 37400295 37400295 single base substitution C T intron_variant MELA-AU 5 37400499 37400499 single base substitution T A intron_variant MELA-AU 5 37402279 37402279 single base substitution T G intron_variant MELA-AU 5 37402446 37402446 single base substitution C T intron_variant MELA-AU 5 37402727 37402727 single base substitution T A intron_variant MELA-AU 5 37402817 37402817 single base substitution C T intron_variant MELA-AU 5 37402889 37402889 single base substitution C T intron_variant MELA-AU 5 37403013 37403013 single base substitution C T intron_variant MELA-AU 5 37403516 37403516 single base substitution C T intron_variant MELA-AU 5 37404542 37404542 single base substitution G A intron_variant MELA-AU 5 37405127 37405127 single base substitution C T intron_variant MELA-AU 5 37405397 37405397 single base substitution C T intron_variant MELA-AU 5 37405732 37405732 single base substitution G A intron_variant MELA-AU 5 37405978 37405978 single base substitution A G intron_variant MELA-AU 5 37407581 37407581 single base substitution C T intron_variant MELA-AU 5 37407686 37407686 single base substitution C T intron_variant MELA-AU 5 37408103 37408103 single base substitution C T intron_variant MELA-AU 5 37408420 37408420 single base substitution A T intron_variant MELA-AU 5 37408951 37408951 single base substitution C T intron_variant MELA-AU 5 37409716 37409716 single base substitution C T intron_variant MELA-AU 5 37410310 37410310 single base substitution T C intron_variant MELA-AU 5 37410498 37410498 single base substitution C T intron_variant MELA-AU 5 37410818 37410818 single base substitution T C intron_variant MELA-AU 5 37410862 37410862 single base substitution T A intron_variant MELA-AU 5 37411161 37411161 single base substitution C T intron_variant MELA-AU 5 37411551 37411551 single base substitution G C intron_variant MELA-AU 5 37411938 37411938 single base substitution T C intron_variant MELA-AU 5 37412208 37412208 single base substitution G A intron_variant MELA-AU 5 37412424 37412424 single base substitution G A intron_variant MELA-AU 5 37412484 37412484 single base substitution C T intron_variant MELA-AU 5 37412625 37412625 single base substitution C T intron_variant MELA-AU 5 37412648 37412648 single base substitution C T intron_variant MELA-AU 5 37412759 37412759 single base substitution C T intron_variant MELA-AU 5 37412947 37412947 single base substitution C T intron_variant MELA-AU 5 37412966 37412966 single base substitution A T intron_variant MELA-AU 5 37413001 37413001 single base substitution C T intron_variant MELA-AU 5 37413903 37413903 single base substitution G A intron_variant MELA-AU 5 37414166 37414166 single base substitution G A intron_variant MELA-AU 5 37414356 37414356 single base substitution C T intron_variant MELA-AU 5 37414519 37414519 single base substitution C T intron_variant MELA-AU 5 37415730 37415730 single base substitution C T intron_variant MELA-AU 5 37417082 37417082 single base substitution C T intron_variant MELA-AU 5 37417083 37417083 single base substitution C T intron_variant MELA-AU 5 37417526 37417526 single base substitution C T intron_variant MELA-AU 5 37417652 37417652 single base substitution T C intron_variant MELA-AU 5 37417748 37417748 single base substitution C T intron_variant MELA-AU 5 37417839 37417839 single base substitution G A intron_variant MELA-AU 5 37418531 37418531 single base substitution C T intron_variant MELA-AU 5 37418647 37418647 single base substitution C T intron_variant MELA-AU 5 37418708 37418708 single base substitution C T intron_variant MELA-AU 5 37419157 37419157 single base substitution T G intron_variant MELA-AU 5 37419230 37419230 single base substitution C T intron_variant MELA-AU 5 37419800 37419800 single base substitution C T intron_variant MELA-AU 5 37419947 37419947 single base substitution C T intron_variant MELA-AU 5 37420469 37420469 single base substitution C T intron_variant MELA-AU 5 37420638 37420638 single base substitution C T intron_variant MELA-AU 5 37420730 37420730 single base substitution C T intron_variant MELA-AU 5 37421096 37421096 single base substitution C T intron_variant MELA-AU 5 37421290 37421290 single base substitution C T intron_variant MELA-AU 5 37421296 37421296 single base substitution C T intron_variant MELA-AU 5 37421582 37421582 single base substitution T A intron_variant MELA-AU 5 37421589 37421589 single base substitution T A intron_variant MELA-AU 5 37421873 37421873 single base substitution T A intron_variant MELA-AU 5 37421952 37421952 single base substitution G A intron_variant MELA-AU 5 37422031 37422031 single base substitution C T intron_variant MELA-AU 5 37422911 37422911 single base substitution T C intron_variant MELA-AU 5 37423764 37423764 single base substitution C T intron_variant MELA-AU 5 37425517 37425517 single base substitution T C intron_variant MELA-AU 5 37425777 37425778 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37425972 37425972 single base substitution G A intron_variant MELA-AU 5 37426059 37426060 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37426197 37426197 single base substitution C T intron_variant MELA-AU 5 37426375 37426375 single base substitution T C intron_variant MELA-AU 5 37427074 37427074 single base substitution C T intron_variant MELA-AU 5 37427363 37427363 single base substitution C A intron_variant MELA-AU 5 37427503 37427503 single base substitution T A intron_variant MELA-AU 5 37427694 37427694 single base substitution C T intron_variant MELA-AU 5 37427786 37427786 single base substitution C T intron_variant MELA-AU 5 37427872 37427872 single base substitution C T intron_variant MELA-AU 5 37428230 37428230 single base substitution C T intron_variant MELA-AU 5 37428310 37428310 single base substitution C T intron_variant MELA-AU 5 37428552 37428552 single base substitution C T intron_variant MELA-AU 5 37428594 37428594 single base substitution C T intron_variant MELA-AU 5 37428750 37428750 single base substitution C T intron_variant MELA-AU 5 37428801 37428801 single base substitution C T intron_variant MELA-AU 5 37429299 37429300 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37429641 37429641 single base substitution C T intron_variant MELA-AU 5 37429799 37429799 single base substitution C T intron_variant MELA-AU 5 37430037 37430037 single base substitution G C intron_variant MELA-AU 5 37430512 37430512 single base substitution T G intron_variant MELA-AU 5 37431046 37431046 single base substitution C T intron_variant MELA-AU 5 37431328 37431328 single base substitution C G intron_variant MELA-AU 5 37431332 37431332 single base substitution A T intron_variant MELA-AU 5 37431770 37431770 single base substitution C T intron_variant MELA-AU 5 37431819 37431819 single base substitution C T intron_variant MELA-AU 5 37432240 37432240 single base substitution C T intron_variant MELA-AU 5 37432405 37432405 single base substitution T C intron_variant MELA-AU 5 37432463 37432463 single base substitution G A intron_variant MELA-AU 5 37432540 37432540 single base substitution G A intron_variant MELA-AU 5 37432581 37432581 single base substitution C T intron_variant MELA-AU 5 37434621 37434621 single base substitution A T intron_variant MELA-AU 5 37435167 37435167 single base substitution C T intron_variant MELA-AU 5 37435688 37435688 single base substitution C T intron_variant MELA-AU 5 37436763 37436763 single base substitution G A intron_variant MELA-AU 5 37437295 37437295 single base substitution C T intron_variant MELA-AU 5 37437694 37437694 single base substitution C T intron_variant MELA-AU 5 37438768 37438768 single base substitution C T intron_variant MELA-AU 5 37438876 37438876 single base substitution T C intron_variant MELA-AU 5 37438991 37438991 single base substitution C T intron_variant MELA-AU 5 37439558 37439558 single base substitution G A intron_variant MELA-AU 5 37439641 37439641 single base substitution T C intron_variant MELA-AU 5 37439696 37439696 single base substitution T A intron_variant MELA-AU 5 37440254 37440254 single base substitution G A intron_variant MELA-AU 5 37440271 37440271 single base substitution C T intron_variant MELA-AU 5 37440530 37440530 single base substitution C T intron_variant MELA-AU 5 37440946 37440946 single base substitution C T intron_variant MELA-AU 5 37441408 37441408 single base substitution C T intron_variant MELA-AU 5 37441500 37441500 single base substitution C T intron_variant MELA-AU 5 37441638 37441638 single base substitution C A intron_variant MELA-AU 5 37442668 37442668 single base substitution C T intron_variant MELA-AU 5 37443028 37443028 single base substitution C A intron_variant MELA-AU 5 37443447 37443447 single base substitution C T exon_variant MELA-AU 5 37443447 37443447 single base substitution C T missense_variant A220V 659C>T MELA-AU 5 37443647 37443647 single base substitution C T intron_variant MELA-AU 5 37444133 37444133 single base substitution C T intron_variant MELA-AU 5 37444224 37444224 single base substitution C T intron_variant MELA-AU 5 37446459 37446459 single base substitution A G intron_variant MELA-AU 5 37446897 37446897 single base substitution A G intron_variant MELA-AU 5 37447681 37447681 single base substitution C A intron_variant MELA-AU 5 37447930 37447930 single base substitution C T intron_variant MELA-AU 5 37448448 37448449 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37448473 37448473 single base substitution G A intron_variant MELA-AU 5 37449155 37449155 single base substitution C T intron_variant MELA-AU 5 37449365 37449365 single base substitution C T intron_variant MELA-AU 5 37449382 37449382 single base substitution C T intron_variant MELA-AU 5 37449601 37449601 single base substitution A C intron_variant MELA-AU 5 37449662 37449662 single base substitution C T intron_variant MELA-AU 5 37449799 37449799 single base substitution C T intron_variant MELA-AU 5 37449990 37449990 single base substitution C T intron_variant MELA-AU 5 37450038 37450038 single base substitution C T intron_variant MELA-AU 5 37450043 37450043 single base substitution C T intron_variant MELA-AU 5 37450068 37450068 single base substitution C T intron_variant MELA-AU 5 37450349 37450349 single base substitution C T intron_variant MELA-AU 5 37451110 37451110 single base substitution C T intron_variant MELA-AU 5 37451136 37451136 single base substitution G T intron_variant MELA-AU 5 37451898 37451898 single base substitution C T intron_variant MELA-AU 5 37452749 37452749 single base substitution C T intron_variant MELA-AU 5 37453068 37453068 single base substitution C T intron_variant MELA-AU 5 37454305 37454305 single base substitution C T intron_variant MELA-AU 5 37454424 37454424 single base substitution A T intron_variant MELA-AU 5 37454740 37454741 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 5 37455168 37455168 single base substitution C T intron_variant MELA-AU 5 37455227 37455227 single base substitution C T intron_variant MELA-AU 5 37456123 37456123 single base substitution C T intron_variant MELA-AU 5 37456164 37456164 single base substitution C T intron_variant MELA-AU 5 37456438 37456438 single base substitution C T intron_variant MELA-AU 5 37457288 37457288 single base substitution C T intron_variant MELA-AU 5 37457296 37457296 single base substitution C T intron_variant MELA-AU 5 37457415 37457415 single base substitution C T intron_variant MELA-AU 5 37457803 37457803 single base substitution C T intron_variant MELA-AU 5 37459484 37459484 single base substitution C T intron_variant MELA-AU 5 37459549 37459549 single base substitution C T intron_variant MELA-AU 5 37460829 37460829 single base substitution A T intron_variant MELA-AU 5 37461628 37461628 single base substitution C T intron_variant MELA-AU 5 37462396 37462396 single base substitution C T intron_variant MELA-AU 5 37462423 37462423 single base substitution G C intron_variant MELA-AU 5 37462495 37462495 single base substitution C T intron_variant MELA-AU 5 37463124 37463124 single base substitution C T intron_variant MELA-AU 5 37465462 37465462 single base substitution C T intron_variant MELA-AU 5 37465790 37465790 single base substitution C T intron_variant MELA-AU 5 37466509 37466509 single base substitution T C intron_variant MELA-AU 5 37467851 37467851 single base substitution C T intron_variant MELA-AU 5 37468038 37468038 single base substitution G A intron_variant MELA-AU 5 37468051 37468051 single base substitution C T intron_variant MELA-AU 5 37468430 37468430 single base substitution C T intron_variant MELA-AU 5 37468912 37468912 single base substitution G A intron_variant MELA-AU 5 37469074 37469074 single base substitution C T intron_variant MELA-AU 5 37470336 37470336 single base substitution C T intron_variant MELA-AU 5 37470737 37470737 single base substitution C T intron_variant MELA-AU 5 37470768 37470768 single base substitution C T intron_variant MELA-AU 5 37471766 37471766 single base substitution C T intron_variant MELA-AU 5 37472458 37472458 single base substitution C T intron_variant MELA-AU 5 37472785 37472785 single base substitution G A intron_variant MELA-AU 5 37472927 37472927 single base substitution C T intron_variant MELA-AU 5 37473327 37473327 single base substitution C G intron_variant MELA-AU 5 37474399 37474399 single base substitution T G intron_variant MELA-AU 5 37474962 37474963 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 5 37474962 37474963 multiple base substitution (>=2bp and <=200bp) TG GT upstream_gene_variant MELA-AU 5 37474982 37474982 single base substitution C T intron_variant MELA-AU 5 37474982 37474982 single base substitution C T upstream_gene_variant MELA-AU 5 37475181 37475181 single base substitution T G intron_variant MELA-AU 5 37475181 37475181 single base substitution T G upstream_gene_variant MELA-AU 5 37476479 37476479 single base substitution C T intron_variant MELA-AU 5 37476479 37476479 single base substitution C T upstream_gene_variant MELA-AU 5 37476549 37476549 deletion of <=200bp G - intron_variant MELA-AU 5 37476549 37476549 deletion of <=200bp G - upstream_gene_variant MELA-AU 5 37476891 37476891 single base substitution C T intron_variant MELA-AU 5 37476891 37476891 single base substitution C T upstream_gene_variant MELA-AU 5 37477197 37477197 single base substitution T C intron_variant MELA-AU 5 37477197 37477197 single base substitution T C upstream_gene_variant MELA-AU 5 37477819 37477819 single base substitution C T intron_variant MELA-AU 5 37477819 37477819 single base substitution C T upstream_gene_variant MELA-AU 5 37478004 37478004 single base substitution C T intron_variant MELA-AU 5 37478004 37478004 single base substitution C T upstream_gene_variant MELA-AU 5 37480252 37480252 single base substitution T C intron_variant MELA-AU 5 37480359 37480359 single base substitution C T intron_variant MELA-AU 5 37480846 37480846 single base substitution C T intron_variant MELA-AU 5 37481040 37481041 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 5 37481087 37481087 single base substitution C T intron_variant MELA-AU 5 37481716 37481716 single base substitution C T intron_variant MELA-AU 5 37482045 37482045 single base substitution C T intron_variant MELA-AU 5 37482054 37482054 single base substitution C T intron_variant MELA-AU 5 37482329 37482329 single base substitution C T intron_variant MELA-AU 5 37483899 37483899 single base substitution C T intron_variant MELA-AU 5 37483974 37483974 single base substitution C T intron_variant MELA-AU 5 37485222 37485222 single base substitution T A intron_variant MELA-AU 5 37485744 37485744 single base substitution A G intron_variant MELA-AU 5 37485763 37485763 single base substitution A G intron_variant MELA-AU 5 37486041 37486041 single base substitution T A intron_variant MELA-AU 5 37486688 37486688 single base substitution C T intron_variant MELA-AU 5 37486947 37486947 single base substitution C T intron_variant MELA-AU 5 37487077 37487077 single base substitution C T intron_variant MELA-AU 5 37487323 37487323 single base substitution C T intron_variant MELA-AU 5 37487812 37487812 single base substitution C T intron_variant MELA-AU 5 37487836 37487836 single base substitution C T intron_variant MELA-AU 5 37488049 37488049 single base substitution C T intron_variant MELA-AU 5 37488133 37488133 single base substitution T G intron_variant MELA-AU 5 37488333 37488333 single base substitution C T intron_variant MELA-AU 5 37488808 37488808 single base substitution C T intron_variant MELA-AU 5 37488875 37488875 single base substitution T G intron_variant MELA-AU 5 37488928 37488928 single base substitution T C intron_variant MELA-AU 5 37489059 37489059 single base substitution T A intron_variant MELA-AU 5 37489062 37489062 single base substitution C T intron_variant MELA-AU 5 37489079 37489079 single base substitution G T intron_variant MELA-AU 5 37489384 37489384 single base substitution C T intron_variant MELA-AU 5 37489775 37489775 single base substitution C T intron_variant MELA-AU 5 37490045 37490045 single base substitution C T intron_variant MELA-AU 5 37490752 37490753 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37491095 37491095 single base substitution C T intron_variant MELA-AU 5 37492644 37492644 single base substitution C T intron_variant MELA-AU 5 37493076 37493077 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37493760 37493760 single base substitution C T intron_variant MELA-AU 5 37493863 37493863 single base substitution C T intron_variant MELA-AU 5 37494572 37494572 single base substitution G A intron_variant MELA-AU 5 37494779 37494779 single base substitution G A intron_variant MELA-AU 5 37495980 37495981 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37497438 37497438 single base substitution C T intron_variant MELA-AU 5 37497450 37497450 single base substitution C T intron_variant MELA-AU 5 37497772 37497772 single base substitution T G intron_variant MELA-AU 5 37497795 37497795 single base substitution C T intron_variant MELA-AU 5 37497910 37497910 single base substitution G T intron_variant MELA-AU 5 37498380 37498380 single base substitution C T intron_variant MELA-AU 5 37499072 37499072 single base substitution C T intron_variant MELA-AU 5 37499536 37499536 single base substitution C T intron_variant MELA-AU 5 37499697 37499697 single base substitution C T intron_variant MELA-AU 5 37500342 37500342 single base substitution C T intron_variant MELA-AU 5 37500371 37500371 single base substitution C T intron_variant MELA-AU 5 37501093 37501093 single base substitution G A intron_variant MELA-AU 5 37501448 37501448 single base substitution C T intron_variant MELA-AU 5 37501507 37501507 single base substitution G A intron_variant MELA-AU 5 37502672 37502672 single base substitution C T intron_variant MELA-AU 5 37503370 37503370 single base substitution A T intron_variant MELA-AU 5 37503504 37503504 single base substitution G T intron_variant MELA-AU 5 37503520 37503521 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37503559 37503559 single base substitution C T intron_variant MELA-AU 5 37503984 37503984 single base substitution C T intron_variant MELA-AU 5 37504121 37504121 single base substitution G A intron_variant MELA-AU 5 37504305 37504305 single base substitution C T intron_variant MELA-AU 5 37505634 37505634 single base substitution C T intron_variant MELA-AU 5 37505739 37505739 single base substitution G A intron_variant MELA-AU 5 37506014 37506014 single base substitution C T intron_variant MELA-AU 5 37506186 37506186 single base substitution T C intron_variant MELA-AU 5 37506350 37506351 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37506806 37506806 single base substitution C T intron_variant MELA-AU 5 37506937 37506937 single base substitution C T intron_variant MELA-AU 5 37507016 37507016 single base substitution C T intron_variant MELA-AU 5 37507041 37507041 single base substitution C T intron_variant MELA-AU 5 37507084 37507084 single base substitution C T intron_variant MELA-AU 5 37507673 37507673 single base substitution C T intron_variant MELA-AU 5 37507733 37507734 multiple base substitution (>=2bp and <=200bp) TT GC intron_variant MELA-AU 5 37508170 37508170 single base substitution A G intron_variant MELA-AU 5 37508341 37508341 single base substitution C T intron_variant MELA-AU 5 37508344 37508344 single base substitution G C intron_variant MELA-AU 5 37508479 37508479 single base substitution A G intron_variant MELA-AU 5 37508751 37508751 single base substitution C A intron_variant MELA-AU 5 37509180 37509180 single base substitution C T intron_variant MELA-AU 5 37509569 37509569 single base substitution C T intron_variant MELA-AU 5 37510186 37510186 single base substitution C T intron_variant MELA-AU 5 37510354 37510354 single base substitution C T intron_variant MELA-AU 5 37510362 37510362 single base substitution C T intron_variant MELA-AU 5 37510403 37510403 single base substitution C T intron_variant MELA-AU 5 37510531 37510532 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 37510967 37510967 single base substitution C T intron_variant MELA-AU 5 37511134 37511134 single base substitution T C intron_variant MELA-AU 5 37511156 37511156 single base substitution T A intron_variant MELA-AU 5 37511229 37511229 single base substitution C T intron_variant MELA-AU 5 37511586 37511586 single base substitution C T intron_variant MELA-AU 5 37511676 37511676 single base substitution G T intron_variant MELA-AU 5 37512026 37512026 single base substitution T C intron_variant MELA-AU 5 37512315 37512315 single base substitution C T intron_variant MELA-AU 5 37513056 37513056 single base substitution G A intron_variant MELA-AU 5 37513088 37513088 single base substitution C G intron_variant MELA-AU 5 37514348 37514348 single base substitution G A intron_variant MELA-AU 5 37515037 37515037 single base substitution G T intron_variant MELA-AU 5 37515041 37515041 single base substitution C T intron_variant MELA-AU 5 37515619 37515619 single base substitution C T intron_variant MELA-AU 5 37515798 37515798 single base substitution C T intron_variant MELA-AU 5 37515925 37515925 single base substitution C T intron_variant MELA-AU 5 37516947 37516947 single base substitution C T intron_variant MELA-AU 5 37516979 37516979 single base substitution C T intron_variant MELA-AU 5 37517450 37517450 single base substitution T A intron_variant MELA-AU 5 37517579 37517579 single base substitution C T intron_variant MELA-AU 5 37518432 37518432 single base substitution C T intron_variant MELA-AU 5 37518468 37518468 single base substitution C T intron_variant MELA-AU 5 37518648 37518648 single base substitution C T intron_variant MELA-AU 5 37518789 37518789 single base substitution T C intron_variant MELA-AU 5 37519243 37519243 single base substitution C T intron_variant MELA-AU 5 37519482 37519482 single base substitution G A intron_variant MELA-AU 5 37519872 37519872 single base substitution C T intron_variant MELA-AU 5 37520117 37520117 single base substitution C T intron_variant MELA-AU 5 37520528 37520528 single base substitution C T intron_variant MELA-AU 5 37521219 37521219 single base substitution C T intron_variant MELA-AU 5 37521640 37521640 single base substitution C T intron_variant MELA-AU 5 37521701 37521701 single base substitution C T intron_variant MELA-AU 5 37521778 37521778 single base substitution T A intron_variant MELA-AU 5 37521969 37521969 single base substitution C T intron_variant MELA-AU 5 37522188 37522188 single base substitution G A intron_variant MELA-AU 5 37523243 37523243 single base substitution C T intron_variant MELA-AU 5 37523686 37523686 single base substitution C T intron_variant MELA-AU 5 37525780 37525780 single base substitution C T intron_variant MELA-AU 5 37525784 37525784 single base substitution G C intron_variant MELA-AU 5 37525895 37525895 single base substitution A G intron_variant MELA-AU 5 37526306 37526306 single base substitution C T intron_variant MELA-AU 5 37526811 37526811 single base substitution G A intron_variant MELA-AU 5 37527283 37527283 single base substitution C T intron_variant MELA-AU 5 37527900 37527900 single base substitution C T intron_variant MELA-AU 5 37528061 37528061 single base substitution C T intron_variant MELA-AU 5 37528179 37528179 single base substitution C T intron_variant MELA-AU 5 37528703 37528703 single base substitution A T intron_variant MELA-AU 5 37529597 37529597 single base substitution T C intron_variant MELA-AU 5 37529635 37529635 single base substitution C T intron_variant MELA-AU 5 37530179 37530179 single base substitution G T intron_variant MELA-AU 5 37530384 37530384 single base substitution C T intron_variant MELA-AU 5 37530388 37530388 single base substitution C T intron_variant MELA-AU 5 37530807 37530807 single base substitution T G intron_variant MELA-AU 5 37531131 37531131 single base substitution C T intron_variant MELA-AU 5 37531434 37531434 single base substitution C A intron_variant MELA-AU 5 37531847 37531847 single base substitution C T intron_variant MELA-AU 5 37532086 37532086 single base substitution C T intron_variant MELA-AU 5 37532171 37532171 single base substitution G A intron_variant MELA-AU 5 37532348 37532348 single base substitution T A intron_variant MELA-AU 5 37532366 37532366 single base substitution C T intron_variant MELA-AU 5 37532482 37532482 single base substitution C T intron_variant MELA-AU 5 37532585 37532585 single base substitution G A intron_variant MELA-AU 5 37532605 37532605 single base substitution C T intron_variant MELA-AU 5 37532802 37532802 single base substitution C T intron_variant MELA-AU 5 37533147 37533147 single base substitution C T intron_variant MELA-AU 5 37533415 37533415 single base substitution G A intron_variant MELA-AU 5 37533569 37533569 single base substitution C T intron_variant MELA-AU 5 37533753 37533753 single base substitution C T intron_variant MELA-AU 5 37534030 37534030 single base substitution C T intron_variant MELA-AU 5 37534315 37534315 single base substitution C T intron_variant MELA-AU 5 37534489 37534489 single base substitution C T intron_variant MELA-AU 5 37534853 37534853 single base substitution T G intron_variant MELA-AU 5 37535143 37535143 single base substitution C T intron_variant MELA-AU 5 37535375 37535375 single base substitution G T intron_variant MELA-AU 5 37535879 37535879 single base substitution C T intron_variant MELA-AU 5 37535895 37535895 single base substitution T G intron_variant MELA-AU 5 37535953 37535953 single base substitution A G intron_variant MELA-AU 5 37535955 37535955 single base substitution G A intron_variant MELA-AU 5 37536749 37536749 single base substitution C T intron_variant MELA-AU 5 37536953 37536953 single base substitution C T intron_variant MELA-AU 5 37536986 37536986 single base substitution T A intron_variant MELA-AU 5 37537176 37537176 single base substitution C T intron_variant MELA-AU 5 37537754 37537754 single base substitution T C intron_variant MELA-AU 5 37538177 37538177 single base substitution G A intron_variant MELA-AU 5 37538422 37538422 single base substitution C T intron_variant MELA-AU 5 37538789 37538789 single base substitution A T intron_variant MELA-AU 5 37538827 37538827 single base substitution A T intron_variant MELA-AU 5 37539245 37539245 single base substitution C T intron_variant MELA-AU 5 37540729 37540729 single base substitution G A intron_variant MELA-AU 5 37541678 37541678 single base substitution T G intron_variant MELA-AU 5 37541895 37541895 single base substitution G A intron_variant MELA-AU 5 37542268 37542268 single base substitution G A intron_variant MELA-AU 5 37542489 37542489 single base substitution C T intron_variant MELA-AU 5 37542839 37542839 single base substitution G A intron_variant MELA-AU 5 37543801 37543801 single base substitution C T intron_variant MELA-AU 5 37543959 37543959 single base substitution C T intron_variant MELA-AU 5 37544616 37544616 single base substitution C T intron_variant MELA-AU 5 37545008 37545008 single base substitution A G intron_variant MELA-AU 5 37545093 37545093 single base substitution T A intron_variant MELA-AU 5 37545540 37545540 single base substitution T C intron_variant MELA-AU 5 37545578 37545578 single base substitution C T intron_variant MELA-AU 5 37546503 37546503 single base substitution T G intron_variant MELA-AU 5 37546955 37546955 single base substitution G A intron_variant MELA-AU 5 37547273 37547273 single base substitution G C intron_variant MELA-AU 5 37547298 37547298 single base substitution G A intron_variant MELA-AU 5 37547311 37547311 single base substitution G A intron_variant MELA-AU 5 37547415 37547415 single base substitution T G intron_variant MELA-AU 5 37547469 37547474 deletion of <=200bp AATAAG - intron_variant MELA-AU 5 37547876 37547876 single base substitution C T intron_variant MELA-AU 5 37547962 37547962 single base substitution G A intron_variant MELA-AU 5 37548054 37548054 single base substitution C T intron_variant MELA-AU 5 37548603 37548603 single base substitution C T intron_variant MELA-AU 5 37548951 37548951 single base substitution T C intron_variant MELA-AU 5 37548969 37548969 single base substitution C T intron_variant MELA-AU 5 37549301 37549301 single base substitution T C intron_variant MELA-AU 5 37549338 37549338 single base substitution A C intron_variant MELA-AU 5 37550187 37550187 single base substitution G A intron_variant MELA-AU 5 37550716 37550716 single base substitution C T intron_variant MELA-AU 5 37551611 37551611 single base substitution C T intron_variant MELA-AU 5 37552132 37552132 single base substitution C T intron_variant MELA-AU 5 37553419 37553419 single base substitution C T intron_variant MELA-AU 5 37553887 37553887 single base substitution C T intron_variant MELA-AU 5 37554140 37554140 single base substitution C T intron_variant MELA-AU 5 37554217 37554217 single base substitution T A intron_variant MELA-AU 5 37554632 37554632 single base substitution C T intron_variant MELA-AU 5 37554780 37554780 single base substitution G A intron_variant MELA-AU 5 37554928 37554929 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37555739 37555739 single base substitution C T intron_variant MELA-AU 5 37555887 37555887 single base substitution C T intron_variant MELA-AU 5 37556272 37556272 single base substitution T G intron_variant MELA-AU 5 37556386 37556386 single base substitution C T intron_variant MELA-AU 5 37557117 37557118 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37557758 37557758 single base substitution T A intron_variant MELA-AU 5 37558125 37558125 single base substitution T A intron_variant MELA-AU 5 37558368 37558368 single base substitution C T intron_variant MELA-AU 5 37558528 37558528 single base substitution C T intron_variant MELA-AU 5 37558949 37558949 single base substitution C T intron_variant MELA-AU 5 37559283 37559283 single base substitution C T intron_variant MELA-AU 5 37559291 37559291 single base substitution C T intron_variant MELA-AU 5 37560857 37560857 single base substitution C T intron_variant MELA-AU 5 37561456 37561456 single base substitution C T intron_variant MELA-AU 5 37561588 37561588 single base substitution A G intron_variant MELA-AU 5 37561914 37561914 single base substitution A G intron_variant MELA-AU 5 37562426 37562426 single base substitution C T intron_variant MELA-AU 5 37563038 37563038 single base substitution A C intron_variant MELA-AU 5 37564362 37564362 single base substitution C T intron_variant MELA-AU 5 37564629 37564629 single base substitution G A intron_variant MELA-AU 5 37564717 37564717 single base substitution T C intron_variant MELA-AU 5 37565204 37565204 single base substitution C T intron_variant MELA-AU 5 37565588 37565588 single base substitution C T intron_variant MELA-AU 5 37565592 37565592 single base substitution C T intron_variant MELA-AU 5 37566333 37566333 single base substitution T A intron_variant MELA-AU 5 37566587 37566587 single base substitution C T intron_variant MELA-AU 5 37566804 37566804 single base substitution G T intron_variant MELA-AU 5 37567757 37567757 single base substitution C T intron_variant MELA-AU 5 37567894 37567894 single base substitution C T intron_variant MELA-AU 5 37568243 37568243 single base substitution C T intron_variant MELA-AU 5 37569110 37569110 single base substitution C T intron_variant MELA-AU 5 37569559 37569559 single base substitution C T intron_variant MELA-AU 5 37571844 37571844 single base substitution C T intron_variant MELA-AU 5 37571994 37571994 single base substitution G C intron_variant MELA-AU 5 37572706 37572706 single base substitution C T intron_variant MELA-AU 5 37572934 37572934 single base substitution C T intron_variant MELA-AU 5 37573459 37573459 single base substitution G T intron_variant MELA-AU 5 37573641 37573641 single base substitution C A intron_variant MELA-AU 5 37573759 37573759 single base substitution C T intron_variant MELA-AU 5 37573958 37573958 single base substitution C T intron_variant MELA-AU 5 37574365 37574365 single base substitution C T intron_variant MELA-AU 5 37574527 37574527 single base substitution C T intron_variant MELA-AU 5 37574956 37574956 single base substitution C T intron_variant MELA-AU 5 37575158 37575159 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 37575768 37575768 single base substitution C T intron_variant MELA-AU 5 37576959 37576959 single base substitution A C intron_variant MELA-AU 5 37577516 37577516 single base substitution C T intron_variant MELA-AU 5 37577956 37577956 single base substitution T C intron_variant MELA-AU 5 37579985 37579985 single base substitution C T intron_variant MELA-AU 5 37579995 37579995 single base substitution C T intron_variant MELA-AU 5 37580197 37580197 single base substitution A G intron_variant MELA-AU 5 37580712 37580712 single base substitution C A intron_variant MELA-AU 5 37580720 37580720 single base substitution C T intron_variant MELA-AU 5 37580753 37580753 single base substitution C G intron_variant MELA-AU 5 37580835 37580835 single base substitution C T intron_variant MELA-AU 5 37581228 37581228 single base substitution C T intron_variant MELA-AU 5 37582353 37582353 single base substitution C T intron_variant MELA-AU 5 37582497 37582497 single base substitution C T intron_variant MELA-AU 5 37582665 37582665 single base substitution C T intron_variant MELA-AU 5 37583019 37583019 single base substitution C G intron_variant MELA-AU 5 37583059 37583059 single base substitution T A intron_variant MELA-AU 5 37583334 37583334 single base substitution C T intron_variant MELA-AU 5 37583406 37583406 single base substitution C T intron_variant MELA-AU 5 37584418 37584418 single base substitution G A intron_variant MELA-AU 5 37584426 37584426 single base substitution C T intron_variant MELA-AU 5 37584492 37584492 deletion of <=200bp T - intron_variant MELA-AU 5 37584585 37584585 single base substitution C T intron_variant MELA-AU 5 37584911 37584911 single base substitution C T intron_variant MELA-AU 5 37585123 37585123 single base substitution C T intron_variant MELA-AU 5 37585333 37585333 single base substitution C T intron_variant MELA-AU 5 37585571 37585571 single base substitution C T intron_variant MELA-AU 5 37585610 37585610 single base substitution T C intron_variant MELA-AU 5 37585803 37585803 single base substitution T C intron_variant MELA-AU 5 37585970 37585970 single base substitution C T intron_variant MELA-AU 5 37586102 37586102 single base substitution C T intron_variant MELA-AU 5 37586198 37586198 single base substitution G A intron_variant MELA-AU 5 37586228 37586228 single base substitution C T intron_variant MELA-AU 5 37586391 37586391 single base substitution C T intron_variant MELA-AU 5 37586700 37586700 single base substitution C T intron_variant MELA-AU 5 37587484 37587484 single base substitution C T intron_variant MELA-AU 5 37587746 37587746 single base substitution C T intron_variant MELA-AU 5 37588284 37588284 single base substitution T C intron_variant MELA-AU 5 37588874 37588874 single base substitution C T intron_variant MELA-AU 5 37588990 37588990 single base substitution C T intron_variant MELA-AU 5 37589574 37589574 single base substitution C T intron_variant MELA-AU 5 37589635 37589635 single base substitution C T intron_variant MELA-AU 5 37589666 37589666 single base substitution C T intron_variant MELA-AU 5 37589858 37589858 single base substitution C T intron_variant MELA-AU 5 37590048 37590048 single base substitution C T intron_variant MELA-AU 5 37590148 37590148 single base substitution C T intron_variant MELA-AU 5 37590149 37590149 single base substitution C T intron_variant MELA-AU 5 37590776 37590776 single base substitution C T intron_variant MELA-AU 5 37590864 37590864 single base substitution C T intron_variant MELA-AU 5 37591128 37591128 single base substitution C T intron_variant MELA-AU 5 37591260 37591260 single base substitution C T intron_variant MELA-AU 5 37592031 37592031 single base substitution C T intron_variant MELA-AU 5 37592097 37592097 single base substitution C T intron_variant MELA-AU 5 37592210 37592210 single base substitution C T intron_variant MELA-AU 5 37592908 37592908 single base substitution G A intron_variant MELA-AU 5 37593358 37593358 single base substitution C T intron_variant MELA-AU 5 37593649 37593649 single base substitution C T intron_variant MELA-AU 5 37594492 37594492 single base substitution T A intron_variant MELA-AU 5 37594867 37594867 single base substitution C T intron_variant MELA-AU 5 37594915 37594915 single base substitution C T intron_variant MELA-AU 5 37595867 37595867 single base substitution G C intron_variant MELA-AU 5 37595974 37595974 single base substitution C T intron_variant MELA-AU 5 37596391 37596391 single base substitution C T intron_variant MELA-AU 5 37596586 37596586 single base substitution G A intron_variant MELA-AU 5 37596625 37596625 single base substitution C T intron_variant MELA-AU 5 37596630 37596630 single base substitution C T intron_variant MELA-AU 5 37596643 37596643 single base substitution C T intron_variant MELA-AU 5 37596809 37596809 single base substitution C T intron_variant MELA-AU 5 37596853 37596853 single base substitution G A intron_variant MELA-AU 5 37597007 37597007 insertion of <=200bp - T intron_variant MELA-AU 5 37597886 37597886 single base substitution G A intron_variant MELA-AU 5 37599005 37599005 single base substitution C T intron_variant MELA-AU 5 37599023 37599023 single base substitution G A intron_variant MELA-AU 5 37599199 37599199 single base substitution A G intron_variant MELA-AU 5 37599714 37599714 single base substitution C T intron_variant MELA-AU 5 37601559 37601559 single base substitution C T intron_variant MELA-AU 5 37601941 37601941 single base substitution G A intron_variant MELA-AU 5 37602336 37602336 single base substitution T C intron_variant MELA-AU 5 37602337 37602337 single base substitution A G intron_variant MELA-AU 5 37602339 37602339 single base substitution G A intron_variant MELA-AU 5 37602490 37602490 single base substitution C T intron_variant MELA-AU 5 37602801 37602801 single base substitution C T intron_variant MELA-AU 5 37603002 37603002 single base substitution C T intron_variant MELA-AU 5 37603126 37603126 single base substitution C T intron_variant MELA-AU 5 37603208 37603208 single base substitution C T intron_variant MELA-AU 5 37603525 37603525 single base substitution T C intron_variant MELA-AU 5 37603892 37603892 single base substitution C T intron_variant MELA-AU 5 37604293 37604293 single base substitution C T intron_variant MELA-AU 5 37604982 37604982 single base substitution C T intron_variant MELA-AU 5 37605097 37605097 single base substitution C T intron_variant MELA-AU 5 37605330 37605330 single base substitution G A exon_variant MELA-AU 5 37605330 37605330 single base substitution G A missense_variant R361Q 1082G>A MELA-AU 5 37605428 37605428 single base substitution T C intron_variant MELA-AU 5 37606192 37606192 single base substitution C T intron_variant MELA-AU 5 37606221 37606221 single base substitution C T intron_variant MELA-AU 5 37606675 37606675 single base substitution C T intron_variant MELA-AU 5 37606761 37606761 single base substitution C T intron_variant MELA-AU 5 37607163 37607163 single base substitution C T intron_variant MELA-AU 5 37607774 37607774 single base substitution C T intron_variant MELA-AU 5 37607929 37607929 single base substitution G A intron_variant MELA-AU 5 37608785 37608785 single base substitution G A intron_variant MELA-AU 5 37608963 37608963 single base substitution C T intron_variant MELA-AU 5 37608978 37608978 single base substitution C T intron_variant MELA-AU 5 37609642 37609642 single base substitution G T intron_variant MELA-AU 5 37610577 37610577 single base substitution C T intron_variant MELA-AU 5 37611099 37611099 single base substitution G A intron_variant MELA-AU 5 37611260 37611260 single base substitution C T intron_variant MELA-AU 5 37611899 37611899 single base substitution A T intron_variant MELA-AU 5 37612016 37612016 single base substitution C T intron_variant MELA-AU 5 37612486 37612486 single base substitution C T intron_variant MELA-AU 5 37612619 37612619 single base substitution C T intron_variant MELA-AU 5 37612797 37612797 single base substitution G A intron_variant MELA-AU 5 37613026 37613026 single base substitution A C intron_variant MELA-AU 5 37613119 37613119 single base substitution C T intron_variant MELA-AU 5 37613712 37613712 single base substitution C T intron_variant MELA-AU 5 37613925 37613925 single base substitution C T intron_variant MELA-AU 5 37613936 37613936 single base substitution G A intron_variant MELA-AU 5 37614871 37614871 single base substitution G A intron_variant MELA-AU 5 37615530 37615530 single base substitution G A intron_variant MELA-AU 5 37615850 37615850 single base substitution C T intron_variant MELA-AU 5 37616051 37616051 single base substitution C T intron_variant MELA-AU 5 37616317 37616317 single base substitution C T intron_variant MELA-AU 5 37616338 37616338 single base substitution C T intron_variant MELA-AU 5 37616424 37616424 single base substitution G A intron_variant MELA-AU 5 37616429 37616429 single base substitution C T intron_variant MELA-AU 5 37617413 37617413 single base substitution T G intron_variant MELA-AU 5 37617867 37617867 single base substitution C T intron_variant MELA-AU 5 37618063 37618063 single base substitution C T intron_variant MELA-AU 5 37619368 37619368 single base substitution C T intron_variant MELA-AU 5 37619673 37619673 single base substitution T G intron_variant MELA-AU 5 37619951 37619951 single base substitution C T intron_variant MELA-AU 5 37620955 37620955 single base substitution G A intron_variant MELA-AU 5 37621852 37621852 single base substitution A G intron_variant MELA-AU 5 37622686 37622686 single base substitution C T intron_variant MELA-AU 5 37622921 37622921 single base substitution C T intron_variant MELA-AU 5 37623264 37623264 single base substitution C T intron_variant MELA-AU 5 37623307 37623307 single base substitution T A intron_variant MELA-AU 5 37624058 37624059 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 5 37624118 37624118 single base substitution C T intron_variant MELA-AU 5 37624248 37624248 single base substitution T A intron_variant MELA-AU 5 37624641 37624641 single base substitution C T intron_variant MELA-AU 5 37624676 37624676 single base substitution C T intron_variant MELA-AU 5 37624961 37624961 single base substitution C G intron_variant MELA-AU 5 37625269 37625269 single base substitution G A intron_variant MELA-AU 5 37625747 37625747 single base substitution C T intron_variant MELA-AU 5 37625925 37625925 single base substitution C T intron_variant MELA-AU 5 37626046 37626046 single base substitution T A intron_variant MELA-AU 5 37626145 37626145 single base substitution C T intron_variant MELA-AU 5 37626438 37626438 single base substitution T A intron_variant MELA-AU 5 37626561 37626561 single base substitution C T intron_variant MELA-AU 5 37626582 37626582 single base substitution C T intron_variant MELA-AU 5 37626797 37626797 single base substitution T A intron_variant MELA-AU 5 37626924 37626924 single base substitution C T intron_variant MELA-AU 5 37627390 37627390 single base substitution C T intron_variant MELA-AU 5 37627554 37627554 single base substitution C T intron_variant MELA-AU 5 37627567 37627568 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 5 37628117 37628117 single base substitution C T intron_variant MELA-AU 5 37628161 37628161 single base substitution G A intron_variant MELA-AU 5 37628210 37628210 single base substitution G A intron_variant MELA-AU 5 37628251 37628251 single base substitution C T intron_variant MELA-AU 5 37628552 37628552 single base substitution T A intron_variant MELA-AU 5 37629378 37629378 single base substitution C T intron_variant MELA-AU 5 37629689 37629689 single base substitution C T intron_variant MELA-AU 5 37629940 37629940 single base substitution C T intron_variant MELA-AU 5 37629991 37629991 single base substitution C T intron_variant MELA-AU 5 37631151 37631152 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37631669 37631669 single base substitution C T intron_variant MELA-AU 5 37631670 37631670 single base substitution C T intron_variant MELA-AU 5 37631768 37631768 single base substitution C T intron_variant MELA-AU 5 37631967 37631967 single base substitution C T intron_variant MELA-AU 5 37632065 37632065 single base substitution C T intron_variant MELA-AU 5 37632394 37632394 single base substitution T C intron_variant MELA-AU 5 37632484 37632484 single base substitution C T intron_variant MELA-AU 5 37632771 37632771 single base substitution T A intron_variant MELA-AU 5 37633351 37633352 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37633806 37633806 single base substitution C T intron_variant MELA-AU 5 37633843 37633843 single base substitution T A intron_variant MELA-AU 5 37635075 37635075 single base substitution C T intron_variant MELA-AU 5 37635172 37635172 single base substitution C T intron_variant MELA-AU 5 37635732 37635732 single base substitution C T intron_variant MELA-AU 5 37636028 37636028 single base substitution C T intron_variant MELA-AU 5 37636114 37636114 single base substitution C T intron_variant MELA-AU 5 37636436 37636436 single base substitution T A intron_variant MELA-AU 5 37636438 37636438 single base substitution A T intron_variant MELA-AU 5 37636656 37636656 single base substitution C T intron_variant MELA-AU 5 37637131 37637131 single base substitution G A intron_variant MELA-AU 5 37637438 37637438 single base substitution A T intron_variant MELA-AU 5 37637441 37637441 single base substitution T A intron_variant MELA-AU 5 37638024 37638024 single base substitution G A intron_variant MELA-AU 5 37638105 37638105 single base substitution C T intron_variant MELA-AU 5 37638284 37638284 single base substitution C T intron_variant MELA-AU 5 37638364 37638364 single base substitution C T intron_variant MELA-AU 5 37639027 37639027 single base substitution A G intron_variant MELA-AU 5 37639506 37639506 single base substitution G A intron_variant MELA-AU 5 37639577 37639577 single base substitution C T intron_variant MELA-AU 5 37641792 37641792 single base substitution T C intron_variant MELA-AU 5 37642336 37642336 single base substitution C T intron_variant MELA-AU 5 37642460 37642460 single base substitution G A intron_variant MELA-AU 5 37642994 37642994 single base substitution C T intron_variant MELA-AU 5 37644491 37644491 single base substitution T G intron_variant MELA-AU 5 37645315 37645315 single base substitution C T intron_variant MELA-AU 5 37645673 37645673 single base substitution T C intron_variant MELA-AU 5 37645709 37645709 single base substitution C T intron_variant MELA-AU 5 37645790 37645790 single base substitution C T intron_variant MELA-AU 5 37645899 37645899 single base substitution C T intron_variant MELA-AU 5 37646016 37646016 single base substitution C T intron_variant MELA-AU 5 37646142 37646142 single base substitution C T intron_variant MELA-AU 5 37646762 37646762 single base substitution C T intron_variant MELA-AU 5 37646908 37646908 single base substitution C T intron_variant MELA-AU 5 37647082 37647082 single base substitution C T intron_variant MELA-AU 5 37647173 37647173 single base substitution C T intron_variant MELA-AU 5 37647645 37647645 single base substitution G A intron_variant MELA-AU 5 37647686 37647686 single base substitution C T intron_variant MELA-AU 5 37647784 37647784 single base substitution G A intron_variant MELA-AU 5 37647863 37647863 single base substitution C T intron_variant MELA-AU 5 37647936 37647936 single base substitution T C intron_variant MELA-AU 5 37648095 37648095 single base substitution C T intron_variant MELA-AU 5 37648107 37648107 single base substitution C T intron_variant MELA-AU 5 37648361 37648361 single base substitution C T intron_variant MELA-AU 5 37648958 37648958 single base substitution C T intron_variant MELA-AU 5 37649168 37649168 single base substitution C T intron_variant MELA-AU 5 37649289 37649290 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 37649623 37649623 single base substitution G A intron_variant MELA-AU 5 37650319 37650319 single base substitution G A intron_variant MELA-AU 5 37651033 37651033 single base substitution C T intron_variant MELA-AU 5 37651192 37651192 single base substitution C T intron_variant MELA-AU 5 37651205 37651205 single base substitution C T intron_variant MELA-AU 5 37651265 37651266 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37651565 37651565 single base substitution C T intron_variant MELA-AU 5 37651566 37651566 single base substitution C T intron_variant MELA-AU 5 37651614 37651614 single base substitution T C intron_variant MELA-AU 5 37651974 37651974 single base substitution G A intron_variant MELA-AU 5 37652650 37652650 single base substitution G A intron_variant MELA-AU 5 37653306 37653306 single base substitution T C intron_variant MELA-AU 5 37653578 37653578 single base substitution C T intron_variant MELA-AU 5 37653625 37653625 single base substitution C T intron_variant MELA-AU 5 37654043 37654043 single base substitution C T intron_variant MELA-AU 5 37654280 37654280 insertion of <=200bp - T intron_variant MELA-AU 5 37654891 37654891 single base substitution C T intron_variant MELA-AU 5 37654914 37654918 deletion of <=200bp CCATC - intron_variant MELA-AU 5 37654918 37654918 single base substitution C T intron_variant MELA-AU 5 37655214 37655214 single base substitution C T intron_variant MELA-AU 5 37655431 37655431 single base substitution C T intron_variant MELA-AU 5 37655983 37655983 single base substitution A G intron_variant MELA-AU 5 37656102 37656102 single base substitution C T intron_variant MELA-AU 5 37656132 37656132 single base substitution G A intron_variant MELA-AU 5 37656257 37656257 single base substitution C T intron_variant MELA-AU 5 37656262 37656262 single base substitution C T intron_variant MELA-AU 5 37656819 37656819 single base substitution C T intron_variant MELA-AU 5 37656986 37656986 single base substitution C T intron_variant MELA-AU 5 37657094 37657094 single base substitution C T intron_variant MELA-AU 5 37657324 37657324 single base substitution C T intron_variant MELA-AU 5 37657364 37657364 single base substitution C T intron_variant MELA-AU 5 37657468 37657468 single base substitution G T intron_variant MELA-AU 5 37657786 37657786 single base substitution C T intron_variant MELA-AU 5 37657817 37657817 single base substitution C T intron_variant MELA-AU 5 37657872 37657872 single base substitution C T intron_variant MELA-AU 5 37658224 37658224 single base substitution G A intron_variant MELA-AU 5 37658449 37658449 single base substitution T C intron_variant MELA-AU 5 37658566 37658566 single base substitution G A intron_variant MELA-AU 5 37658745 37658745 single base substitution C T intron_variant MELA-AU 5 37659297 37659297 single base substitution T A intron_variant MELA-AU 5 37659299 37659299 single base substitution T A intron_variant MELA-AU 5 37659484 37659484 single base substitution G A intron_variant MELA-AU 5 37659488 37659489 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 5 37659547 37659547 single base substitution C T intron_variant MELA-AU 5 37659548 37659548 single base substitution C T intron_variant MELA-AU 5 37659850 37659850 single base substitution G A intron_variant MELA-AU 5 37659926 37659926 single base substitution C T intron_variant MELA-AU 5 37660165 37660165 single base substitution C T intron_variant MELA-AU 5 37660258 37660258 single base substitution C T intron_variant MELA-AU 5 37662422 37662422 single base substitution G A intron_variant MELA-AU 5 37662879 37662879 single base substitution A C intron_variant MELA-AU 5 37663973 37663973 single base substitution C T intron_variant MELA-AU 5 37664062 37664062 single base substitution C T intron_variant MELA-AU 5 37664228 37664228 single base substitution T C intron_variant MELA-AU 5 37664565 37664565 single base substitution C T intron_variant MELA-AU 5 37664588 37664588 single base substitution C T intron_variant MELA-AU 5 37665124 37665124 single base substitution C T intron_variant MELA-AU 5 37665159 37665159 single base substitution C T intron_variant MELA-AU 5 37665404 37665404 single base substitution C T intron_variant MELA-AU 5 37666042 37666042 single base substitution C T intron_variant MELA-AU 5 37666226 37666226 single base substitution C T intron_variant MELA-AU 5 37666881 37666881 single base substitution C T intron_variant MELA-AU 5 37666882 37666882 single base substitution C T intron_variant MELA-AU 5 37666950 37666951 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37668711 37668711 single base substitution C T intron_variant MELA-AU 5 37669004 37669004 single base substitution T C intron_variant MELA-AU 5 37669074 37669075 deletion of <=200bp CT - intron_variant MELA-AU 5 37669504 37669504 single base substitution A T intron_variant MELA-AU 5 37669647 37669647 single base substitution C T intron_variant MELA-AU 5 37670149 37670149 single base substitution C T intron_variant MELA-AU 5 37670584 37670584 single base substitution G A intron_variant MELA-AU 5 37670636 37670636 deletion of <=200bp A - intron_variant MELA-AU 5 37670716 37670716 single base substitution C T intron_variant MELA-AU 5 37670897 37670897 single base substitution C T intron_variant MELA-AU 5 37670903 37670903 single base substitution C T intron_variant MELA-AU 5 37670942 37670942 insertion of <=200bp - T intron_variant MELA-AU 5 37671062 37671062 single base substitution C T intron_variant MELA-AU 5 37671671 37671671 single base substitution T A intron_variant MELA-AU 5 37672475 37672475 single base substitution G A intron_variant MELA-AU 5 37672484 37672484 single base substitution C T intron_variant MELA-AU 5 37672540 37672540 single base substitution C T intron_variant MELA-AU 5 37672924 37672924 single base substitution C T intron_variant MELA-AU 5 37673427 37673427 single base substitution C T intron_variant MELA-AU 5 37674092 37674092 single base substitution T G intron_variant MELA-AU 5 37674203 37674203 single base substitution T G intron_variant MELA-AU 5 37674267 37674267 single base substitution C T intron_variant MELA-AU 5 37674325 37674325 single base substitution C T intron_variant MELA-AU 5 37674334 37674334 single base substitution T G intron_variant MELA-AU 5 37674413 37674413 single base substitution C T intron_variant MELA-AU 5 37674524 37674524 single base substitution C T intron_variant MELA-AU 5 37675133 37675133 single base substitution C T intron_variant MELA-AU 5 37675239 37675239 single base substitution T C intron_variant MELA-AU 5 37675843 37675843 single base substitution T C intron_variant MELA-AU 5 37675845 37675845 single base substitution C T intron_variant MELA-AU 5 37675860 37675860 single base substitution C T intron_variant MELA-AU 5 37675957 37675957 single base substitution C T intron_variant MELA-AU 5 37676013 37676013 single base substitution G A intron_variant MELA-AU 5 37676508 37676508 single base substitution C T intron_variant MELA-AU 5 37677586 37677586 single base substitution C T intron_variant MELA-AU 5 37678375 37678375 single base substitution C T intron_variant MELA-AU 5 37678436 37678436 single base substitution C G intron_variant MELA-AU 5 37678480 37678480 single base substitution C T intron_variant MELA-AU 5 37678500 37678500 single base substitution C T intron_variant MELA-AU 5 37678898 37678898 single base substitution A G intron_variant MELA-AU 5 37679283 37679283 single base substitution C T intron_variant MELA-AU 5 37679286 37679286 single base substitution C T intron_variant MELA-AU 5 37679309 37679309 single base substitution C T intron_variant MELA-AU 5 37679389 37679389 single base substitution C T intron_variant MELA-AU 5 37679417 37679417 single base substitution T G intron_variant MELA-AU 5 37679449 37679449 single base substitution C T intron_variant MELA-AU 5 37679759 37679759 single base substitution C T intron_variant MELA-AU 5 37680116 37680116 single base substitution C T intron_variant MELA-AU 5 37680141 37680141 single base substitution C T intron_variant MELA-AU 5 37680657 37680657 single base substitution C T intron_variant MELA-AU 5 37681240 37681240 single base substitution C T intron_variant MELA-AU 5 37682230 37682230 single base substitution G A intron_variant MELA-AU 5 37682285 37682285 single base substitution C T intron_variant MELA-AU 5 37682708 37682708 single base substitution C T intron_variant MELA-AU 5 37682723 37682725 deletion of <=200bp TGT - intron_variant MELA-AU 5 37683571 37683571 single base substitution G A intron_variant MELA-AU 5 37683777 37683777 single base substitution C T intron_variant MELA-AU 5 37684114 37684114 single base substitution C T intron_variant MELA-AU 5 37684185 37684185 single base substitution A G intron_variant MELA-AU 5 37684370 37684370 single base substitution C T intron_variant MELA-AU 5 37684558 37684558 single base substitution C T intron_variant MELA-AU 5 37685118 37685118 single base substitution C T intron_variant MELA-AU 5 37685334 37685334 single base substitution T C intron_variant MELA-AU 5 37685494 37685494 single base substitution C T intron_variant MELA-AU 5 37685699 37685699 single base substitution C T intron_variant MELA-AU 5 37685734 37685734 single base substitution C T intron_variant MELA-AU 5 37685878 37685878 single base substitution C T intron_variant MELA-AU 5 37685897 37685897 single base substitution G A intron_variant MELA-AU 5 37685999 37685999 single base substitution C T intron_variant MELA-AU 5 37686185 37686185 single base substitution C T intron_variant MELA-AU 5 37687238 37687238 single base substitution T A intron_variant MELA-AU 5 37687330 37687330 single base substitution G A intron_variant MELA-AU 5 37687565 37687565 single base substitution T C intron_variant MELA-AU 5 37687678 37687678 single base substitution C T intron_variant MELA-AU 5 37687887 37687887 single base substitution C T intron_variant MELA-AU 5 37687996 37687996 single base substitution C T intron_variant MELA-AU 5 37688190 37688190 single base substitution G A intron_variant MELA-AU 5 37688584 37688584 single base substitution C T intron_variant MELA-AU 5 37688737 37688737 single base substitution C T intron_variant MELA-AU 5 37688762 37688762 single base substitution C T intron_variant MELA-AU 5 37689212 37689212 single base substitution C T intron_variant MELA-AU 5 37689246 37689246 single base substitution C T intron_variant MELA-AU 5 37689512 37689512 single base substitution C T intron_variant MELA-AU 5 37690073 37690073 single base substitution T C intron_variant MELA-AU 5 37690226 37690226 single base substitution C T intron_variant MELA-AU 5 37690445 37690445 single base substitution C T intron_variant MELA-AU 5 37690479 37690479 single base substitution C T intron_variant MELA-AU 5 37690735 37690735 single base substitution A G intron_variant MELA-AU 5 37691055 37691055 single base substitution C T intron_variant MELA-AU 5 37691222 37691222 single base substitution T G intron_variant MELA-AU 5 37691384 37691384 single base substitution C T intron_variant MELA-AU 5 37691615 37691615 single base substitution C T intron_variant MELA-AU 5 37691794 37691794 single base substitution C T intron_variant MELA-AU 5 37692249 37692250 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 37692412 37692412 single base substitution C T intron_variant MELA-AU 5 37692421 37692421 single base substitution A G intron_variant MELA-AU 5 37692451 37692451 single base substitution C T intron_variant MELA-AU 5 37692532 37692532 single base substitution C T intron_variant MELA-AU 5 37693238 37693238 single base substitution C T intron_variant MELA-AU 5 37694642 37694642 single base substitution C T intron_variant MELA-AU 5 37694804 37694804 single base substitution G T intron_variant MELA-AU 5 37695072 37695072 single base substitution C T intron_variant MELA-AU 5 37695529 37695529 single base substitution C T intron_variant MELA-AU 5 37695650 37695650 single base substitution C T intron_variant MELA-AU 5 37695842 37695842 single base substitution C T intron_variant MELA-AU 5 37695854 37695854 single base substitution C T intron_variant MELA-AU 5 37696366 37696366 single base substitution C T intron_variant MELA-AU 5 37696409 37696409 single base substitution C T intron_variant MELA-AU 5 37697219 37697219 single base substitution A G intron_variant MELA-AU 5 37697760 37697760 single base substitution C T 3_prime_UTR_variant MELA-AU 5 37697760 37697760 single base substitution C T exon_variant MELA-AU 5 37697760 37697760 single base substitution C T missense_variant H366Y 1096C>T MELA-AU 5 37698092 37698092 single base substitution A G downstream_gene_variant MELA-AU 5 37698092 37698092 single base substitution A G intron_variant MELA-AU 5 37698178 37698178 single base substitution T A downstream_gene_variant MELA-AU 5 37698178 37698178 single base substitution T A intron_variant MELA-AU 5 37699151 37699151 single base substitution C T downstream_gene_variant MELA-AU 5 37699151 37699151 single base substitution C T intron_variant MELA-AU 5 37699586 37699586 single base substitution C T downstream_gene_variant MELA-AU 5 37699586 37699586 single base substitution C T intron_variant MELA-AU 5 37699638 37699638 single base substitution C T downstream_gene_variant MELA-AU 5 37699638 37699638 single base substitution C T intron_variant MELA-AU 5 37699678 37699678 single base substitution G A downstream_gene_variant MELA-AU 5 37699678 37699678 single base substitution G A intron_variant MELA-AU 5 37700038 37700038 single base substitution G A downstream_gene_variant MELA-AU 5 37700038 37700038 single base substitution G A intron_variant MELA-AU 5 37700164 37700164 single base substitution C T downstream_gene_variant MELA-AU 5 37700164 37700164 single base substitution C T intron_variant MELA-AU 5 37700502 37700502 single base substitution C T downstream_gene_variant MELA-AU 5 37700502 37700502 single base substitution C T intron_variant MELA-AU 5 37700603 37700603 single base substitution G A downstream_gene_variant MELA-AU 5 37700603 37700603 single base substitution G A intron_variant MELA-AU 5 37700857 37700857 single base substitution C T downstream_gene_variant MELA-AU 5 37700857 37700857 single base substitution C T intron_variant MELA-AU 5 37700966 37700966 single base substitution G A downstream_gene_variant MELA-AU 5 37700966 37700966 single base substitution G A intron_variant MELA-AU 5 37701142 37701142 single base substitution C T downstream_gene_variant MELA-AU 5 37701142 37701142 single base substitution C T intron_variant MELA-AU 5 37701143 37701143 single base substitution C T downstream_gene_variant MELA-AU 5 37701143 37701143 single base substitution C T intron_variant MELA-AU 5 37701323 37701323 single base substitution C T downstream_gene_variant MELA-AU 5 37701323 37701323 single base substitution C T intron_variant MELA-AU 5 37702136 37702136 single base substitution C T downstream_gene_variant MELA-AU 5 37702136 37702136 single base substitution C T intron_variant MELA-AU 5 37702645 37702645 single base substitution C T downstream_gene_variant MELA-AU 5 37702645 37702645 single base substitution C T intron_variant MELA-AU 5 37702795 37702795 single base substitution C T downstream_gene_variant MELA-AU 5 37702795 37702795 single base substitution C T intron_variant MELA-AU 5 37703138 37703138 single base substitution C T downstream_gene_variant MELA-AU 5 37703138 37703138 single base substitution C T exon_variant MELA-AU 5 37703138 37703138 single base substitution C T synonymous_variant F455F 1365C>T MELA-AU 5 37703318 37703318 single base substitution C T downstream_gene_variant MELA-AU 5 37703318 37703318 single base substitution C T intron_variant MELA-AU 5 37703387 37703387 single base substitution C T downstream_gene_variant MELA-AU 5 37703387 37703387 single base substitution C T intron_variant MELA-AU 5 37703428 37703428 single base substitution C T downstream_gene_variant MELA-AU 5 37703428 37703428 single base substitution C T intron_variant MELA-AU 5 37703469 37703469 single base substitution C T downstream_gene_variant MELA-AU 5 37703469 37703469 single base substitution C T intron_variant MELA-AU 5 37704705 37704705 single base substitution C T downstream_gene_variant MELA-AU 5 37704705 37704705 single base substitution C T intron_variant MELA-AU 5 37704770 37704770 single base substitution C T downstream_gene_variant MELA-AU 5 37704770 37704770 single base substitution C T intron_variant MELA-AU 5 37705549 37705549 single base substitution A G downstream_gene_variant MELA-AU 5 37705549 37705549 single base substitution A G intron_variant MELA-AU 5 37705723 37705724 multiple base substitution (>=2bp and <=200bp) TT AG downstream_gene_variant MELA-AU 5 37705723 37705724 multiple base substitution (>=2bp and <=200bp) TT AG intron_variant MELA-AU 5 37707183 37707183 single base substitution G A downstream_gene_variant MELA-AU 5 37707183 37707183 single base substitution G A intron_variant MELA-AU 5 37707685 37707685 single base substitution T A downstream_gene_variant MELA-AU 5 37707685 37707685 single base substitution T A intron_variant MELA-AU 5 37707764 37707764 single base substitution C T downstream_gene_variant MELA-AU 5 37707764 37707764 single base substitution C T intron_variant MELA-AU 5 37707908 37707908 single base substitution C T downstream_gene_variant MELA-AU 5 37707908 37707908 single base substitution C T intron_variant MELA-AU 5 37708281 37708281 single base substitution C T intron_variant MELA-AU 5 37708293 37708293 single base substitution G A intron_variant MELA-AU 5 37708320 37708320 single base substitution C T intron_variant MELA-AU 5 37709388 37709388 single base substitution C T intron_variant MELA-AU 5 37709456 37709456 single base substitution T A intron_variant MELA-AU 5 37709749 37709749 single base substitution G A intron_variant MELA-AU 5 37710225 37710225 single base substitution G A intron_variant MELA-AU 5 37710287 37710287 single base substitution C T intron_variant MELA-AU 5 37710333 37710333 single base substitution T G intron_variant MELA-AU 5 37710431 37710431 single base substitution C T intron_variant MELA-AU 5 37710480 37710480 single base substitution C T intron_variant MELA-AU 5 37710756 37710756 single base substitution A T intron_variant MELA-AU 5 37710758 37710758 single base substitution A T intron_variant MELA-AU 5 37710982 37710982 single base substitution G A intron_variant MELA-AU 5 37710999 37710999 single base substitution C T intron_variant MELA-AU 5 37711504 37711504 single base substitution G A intron_variant MELA-AU 5 37712009 37712009 single base substitution C T intron_variant MELA-AU 5 37712334 37712334 single base substitution C T intron_variant MELA-AU 5 37712391 37712391 single base substitution C A intron_variant MELA-AU 5 37712798 37712798 single base substitution T A intron_variant MELA-AU 5 37713000 37713000 single base substitution C T intron_variant MELA-AU 5 37713371 37713371 single base substitution C T intron_variant MELA-AU 5 37715410 37715410 single base substitution G A intron_variant MELA-AU 5 37715641 37715641 single base substitution G C intron_variant MELA-AU 5 37715904 37715904 single base substitution C T intron_variant MELA-AU 5 37715951 37715951 single base substitution C T intron_variant MELA-AU 5 37716481 37716481 single base substitution G A intron_variant MELA-AU 5 37716488 37716488 single base substitution G A intron_variant MELA-AU 5 37716646 37716646 single base substitution C T intron_variant MELA-AU 5 37716708 37716708 single base substitution C T intron_variant MELA-AU 5 37716820 37716820 single base substitution C T intron_variant MELA-AU 5 37716861 37716861 single base substitution G A intron_variant MELA-AU 5 37716982 37716982 single base substitution C T intron_variant MELA-AU 5 37716999 37716999 single base substitution G A intron_variant MELA-AU 5 37717125 37717125 single base substitution T G intron_variant MELA-AU 5 37717986 37717986 single base substitution C T intron_variant MELA-AU 5 37717986 37717986 single base substitution C T upstream_gene_variant MELA-AU 5 37718382 37718382 single base substitution T C intron_variant MELA-AU 5 37718382 37718382 single base substitution T C upstream_gene_variant MELA-AU 5 37719916 37719916 single base substitution T G intron_variant MELA-AU 5 37719916 37719916 single base substitution T G upstream_gene_variant MELA-AU 5 37720555 37720555 single base substitution G A intron_variant MELA-AU 5 37720555 37720555 single base substitution G A upstream_gene_variant MELA-AU 5 37720861 37720861 single base substitution C T intron_variant MELA-AU 5 37720861 37720861 single base substitution C T upstream_gene_variant MELA-AU 5 37721264 37721264 single base substitution T G exon_variant MELA-AU 5 37721264 37721264 single base substitution T G synonymous_variant V488V 1464T>G MELA-AU 5 37721264 37721264 single base substitution T G upstream_gene_variant MELA-AU 5 37721375 37721375 single base substitution C T exon_variant MELA-AU 5 37721375 37721375 single base substitution C T intron_variant MELA-AU 5 37721375 37721375 single base substitution C T upstream_gene_variant MELA-AU 5 37721379 37721379 single base substitution C T exon_variant MELA-AU 5 37721379 37721379 single base substitution C T intron_variant MELA-AU 5 37721379 37721379 single base substitution C T upstream_gene_variant MELA-AU 5 37721816 37721816 single base substitution C T exon_variant MELA-AU 5 37721816 37721816 single base substitution C T intron_variant MELA-AU 5 37721816 37721816 single base substitution C T upstream_gene_variant MELA-AU 5 37724182 37724182 single base substitution G A exon_variant MELA-AU 5 37724182 37724182 single base substitution G A intron_variant MELA-AU 5 37724182 37724182 single base substitution G A upstream_gene_variant MELA-AU 5 37724282 37724282 single base substitution C T exon_variant MELA-AU 5 37724282 37724282 single base substitution C T intron_variant MELA-AU 5 37724282 37724282 single base substitution C T upstream_gene_variant MELA-AU 5 37724298 37724298 single base substitution C T exon_variant MELA-AU 5 37724298 37724298 single base substitution C T intron_variant MELA-AU 5 37724298 37724298 single base substitution C T upstream_gene_variant MELA-AU 5 37725165 37725165 single base substitution C T intron_variant MELA-AU 5 37725385 37725385 single base substitution C T intron_variant MELA-AU 5 37725829 37725829 single base substitution C T intron_variant MELA-AU 5 37726828 37726828 single base substitution T G intron_variant MELA-AU 5 37726987 37726987 single base substitution C T missense_variant R573C 1717C>T MELA-AU 5 37726987 37726987 single base substitution C T splice_region_variant MELA-AU 5 37727243 37727243 single base substitution C T intron_variant MELA-AU 5 37727250 37727250 single base substitution C T intron_variant MELA-AU 5 37727330 37727330 single base substitution C T intron_variant MELA-AU 5 37727399 37727399 single base substitution C T intron_variant MELA-AU 5 37727637 37727637 single base substitution T C intron_variant MELA-AU 5 37727669 37727669 single base substitution C T intron_variant MELA-AU 5 37727787 37727787 single base substitution C T intron_variant MELA-AU 5 37727968 37727968 single base substitution C T intron_variant MELA-AU 5 37728332 37728332 single base substitution C T intron_variant MELA-AU 5 37729334 37729334 single base substitution C T intron_variant MELA-AU 5 37729339 37729339 single base substitution T G intron_variant MELA-AU 5 37729388 37729388 single base substitution C T intron_variant MELA-AU 5 37729584 37729584 single base substitution C T intron_variant MELA-AU 5 37729856 37729856 single base substitution C G intron_variant MELA-AU 5 37729910 37729910 single base substitution G A intron_variant MELA-AU 5 37730046 37730046 single base substitution C T intron_variant MELA-AU 5 37730059 37730059 single base substitution C T intron_variant MELA-AU 5 37730578 37730578 single base substitution C T intron_variant MELA-AU 5 37730785 37730785 single base substitution T G intron_variant MELA-AU 5 37731005 37731005 single base substitution C T intron_variant MELA-AU 5 37731064 37731064 single base substitution C T intron_variant MELA-AU 5 37731121 37731121 single base substitution C G intron_variant MELA-AU 5 37731320 37731320 single base substitution T A intron_variant MELA-AU 5 37731437 37731437 single base substitution C T intron_variant MELA-AU 5 37732232 37732232 single base substitution C T intron_variant MELA-AU 5 37732638 37732638 single base substitution C T intron_variant MELA-AU 5 37732843 37732843 single base substitution T G intron_variant MELA-AU 5 37733013 37733013 single base substitution C A intron_variant MELA-AU 5 37733033 37733033 single base substitution C T intron_variant MELA-AU 5 37733090 37733090 single base substitution C T intron_variant MELA-AU 5 37733210 37733211 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 37734383 37734383 single base substitution C T intron_variant MELA-AU 5 37734445 37734445 single base substitution C T intron_variant MELA-AU 5 37734493 37734493 single base substitution C T intron_variant MELA-AU 5 37735198 37735198 single base substitution C T intron_variant MELA-AU 5 37735429 37735429 single base substitution C T intron_variant MELA-AU 5 37737199 37737199 single base substitution T C intron_variant MELA-AU 5 37737363 37737363 single base substitution G A intron_variant MELA-AU 5 37737492 37737492 single base substitution C T intron_variant MELA-AU 5 37739165 37739165 single base substitution C T intron_variant MELA-AU 5 37739568 37739568 single base substitution G A intron_variant MELA-AU 5 37739842 37739842 single base substitution A C intron_variant MELA-AU 5 37740181 37740181 single base substitution A G intron_variant MELA-AU 5 37740293 37740293 single base substitution G A intron_variant MELA-AU 5 37740396 37740396 single base substitution C T intron_variant MELA-AU 5 37740409 37740409 single base substitution C T intron_variant MELA-AU 5 37740959 37740959 single base substitution C T intron_variant MELA-AU 5 37741455 37741455 single base substitution C A intron_variant MELA-AU 5 37741568 37741568 single base substitution T C intron_variant MELA-AU 5 37741640 37741641 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 5 37741668 37741668 single base substitution C T intron_variant MELA-AU 5 37742616 37742616 single base substitution T A intron_variant MELA-AU 5 37743516 37743516 single base substitution C T intron_variant MELA-AU 5 37743568 37743568 single base substitution T G intron_variant MELA-AU 5 37743799 37743799 single base substitution C T intron_variant MELA-AU 5 37743873 37743873 single base substitution C T intron_variant MELA-AU 5 37744140 37744140 single base substitution G A intron_variant MELA-AU 5 37744190 37744190 single base substitution C T intron_variant MELA-AU 5 37744755 37744755 single base substitution G A intron_variant MELA-AU 5 37745307 37745307 single base substitution C T intron_variant MELA-AU 5 37745415 37745415 single base substitution T G intron_variant MELA-AU 5 37745455 37745455 single base substitution A C intron_variant MELA-AU 5 37745769 37745769 single base substitution C T intron_variant MELA-AU 5 37746087 37746087 single base substitution C T intron_variant MELA-AU 5 37746318 37746318 single base substitution C T intron_variant MELA-AU 5 37746691 37746691 single base substitution C T intron_variant MELA-AU 5 37746835 37746835 single base substitution C T intron_variant MELA-AU 5 37746963 37746963 single base substitution C T intron_variant MELA-AU 5 37747003 37747003 single base substitution C T intron_variant MELA-AU 5 37747022 37747022 single base substitution A T intron_variant MELA-AU 5 37747171 37747171 single base substitution C T intron_variant MELA-AU 5 37747676 37747676 single base substitution C T intron_variant MELA-AU 5 37747845 37747845 single base substitution C T intron_variant MELA-AU 5 37748608 37748608 single base substitution A T intron_variant MELA-AU 5 37748623 37748623 single base substitution C T intron_variant MELA-AU 5 37748915 37748915 single base substitution C T intron_variant MELA-AU 5 37750008 37750008 single base substitution G A intron_variant MELA-AU 5 37750214 37750214 single base substitution T A intron_variant MELA-AU 5 37750644 37750644 single base substitution G A intron_variant MELA-AU 5 37750671 37750671 single base substitution C T intron_variant MELA-AU 5 37750804 37750804 single base substitution C T intron_variant MELA-AU 5 37750909 37750909 single base substitution C T intron_variant MELA-AU 5 37751316 37751316 single base substitution T C intron_variant MELA-AU 5 37751385 37751385 single base substitution G A intron_variant MELA-AU 5 37751501 37751501 single base substitution G A intron_variant MELA-AU 5 37751840 37751840 single base substitution G A intron_variant MELA-AU 5 37752230 37752230 single base substitution G A intron_variant MELA-AU 5 37752561 37752561 single base substitution C T intron_variant MELA-AU 5 37753404 37753405 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 5 37753404 37753405 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 37753424 37753424 single base substitution A G 3_prime_UTR_variant MELA-AU 5 37753424 37753424 single base substitution A G downstream_gene_variant MELA-AU 5 37753618 37753618 single base substitution C A downstream_gene_variant MELA-AU 5 37754270 37754271 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 37754830 37754830 single base substitution C T downstream_gene_variant MELA-AU 5 37754831 37754831 single base substitution C T downstream_gene_variant MELA-AU 5 37754983 37754983 single base substitution C T downstream_gene_variant MELA-AU 5 37755243 37755243 single base substitution C T downstream_gene_variant MELA-AU 5 37755375 37755375 single base substitution C T downstream_gene_variant MELA-AU 5 37755804 37755804 single base substitution C T downstream_gene_variant MELA-AU 5 37756138 37756138 single base substitution C T downstream_gene_variant MELA-AU 5 37756194 37756194 single base substitution C T downstream_gene_variant MELA-AU 5 37756995 37756995 single base substitution C T downstream_gene_variant MELA-AU 5 37757496 37757496 single base substitution C T downstream_gene_variant MELA-AU 5 37757760 37757761 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant ORCA-IN 5 37380422 37380422 single base substitution A G intron_variant ORCA-IN 5 37395824 37395824 single base substitution G C intron_variant ORCA-IN 5 37470273 37470273 single base substitution C G intron_variant ORCA-IN 5 37486603 37486603 single base substitution C T intron_variant ORCA-IN 5 37515121 37515121 deletion of <=200bp G - intron_variant ORCA-IN 5 37522350 37522350 deletion of <=200bp G - intron_variant ORCA-IN 5 37546854 37546854 single base substitution C G intron_variant ORCA-IN 5 37566494 37566494 single base substitution C T intron_variant ORCA-IN 5 37600752 37600752 single base substitution G A intron_variant ORCA-IN 5 37607993 37607993 single base substitution A T intron_variant ORCA-IN 5 37608766 37608766 single base substitution C T intron_variant ORCA-IN 5 37621577 37621577 single base substitution C A intron_variant ORCA-IN 5 37683393 37683393 single base substitution G A intron_variant ORCA-IN 5 37694241 37694242 deletion of <=200bp CA - intron_variant ORCA-IN 5 37705105 37705105 single base substitution G A downstream_gene_variant ORCA-IN 5 37705105 37705105 single base substitution G A intron_variant ORCA-IN 5 37706818 37706818 single base substitution T C downstream_gene_variant ORCA-IN 5 37706818 37706818 single base substitution T C intron_variant ORCA-IN 5 37709961 37709961 single base substitution G C intron_variant ORCA-IN 5 37725024 37725024 single base substitution G C exon_variant ORCA-IN 5 37725024 37725024 single base substitution G C intron_variant OV-AU 5 37379028 37379028 single base substitution A C upstream_gene_variant OV-AU 5 37381686 37381686 single base substitution C A intron_variant OV-AU 5 37388923 37388923 single base substitution G C intron_variant OV-AU 5 37392033 37392033 single base substitution T C intron_variant OV-AU 5 37394282 37394282 single base substitution C G intron_variant OV-AU 5 37401961 37401961 single base substitution C G intron_variant OV-AU 5 37408272 37408272 single base substitution G T intron_variant OV-AU 5 37412630 37412630 single base substitution T C intron_variant OV-AU 5 37414505 37414505 single base substitution C T intron_variant OV-AU 5 37416660 37416660 single base substitution A T intron_variant OV-AU 5 37418736 37418736 single base substitution C G intron_variant OV-AU 5 37422085 37422085 single base substitution A G intron_variant OV-AU 5 37422340 37422340 single base substitution T G intron_variant OV-AU 5 37424276 37424276 single base substitution A T intron_variant OV-AU 5 37426434 37426434 single base substitution G C intron_variant OV-AU 5 37429591 37429591 single base substitution A G intron_variant OV-AU 5 37431518 37431518 single base substitution C G intron_variant OV-AU 5 37434075 37434075 single base substitution G T intron_variant OV-AU 5 37441250 37441250 single base substitution A G intron_variant OV-AU 5 37441251 37441251 single base substitution G T intron_variant OV-AU 5 37442719 37442719 single base substitution C T intron_variant OV-AU 5 37445118 37445118 single base substitution T C intron_variant OV-AU 5 37449602 37449602 single base substitution G C intron_variant OV-AU 5 37454889 37454889 single base substitution C T intron_variant OV-AU 5 37455352 37455352 single base substitution T C intron_variant OV-AU 5 37461366 37461366 single base substitution G A intron_variant OV-AU 5 37467927 37467927 single base substitution C T intron_variant OV-AU 5 37467978 37467978 single base substitution A C intron_variant OV-AU 5 37474544 37474544 single base substitution C T intron_variant OV-AU 5 37474591 37474591 single base substitution C T intron_variant OV-AU 5 37474591 37474591 single base substitution C T upstream_gene_variant OV-AU 5 37474656 37474656 single base substitution C A intron_variant OV-AU 5 37474656 37474656 single base substitution C A upstream_gene_variant OV-AU 5 37474668 37474668 single base substitution C A intron_variant OV-AU 5 37474668 37474668 single base substitution C A upstream_gene_variant OV-AU 5 37474794 37474794 single base substitution C T intron_variant OV-AU 5 37474794 37474794 single base substitution C T upstream_gene_variant OV-AU 5 37481357 37481357 single base substitution C A intron_variant OV-AU 5 37483712 37483712 single base substitution G A intron_variant OV-AU 5 37485263 37485263 single base substitution A G intron_variant OV-AU 5 37491396 37491396 single base substitution A T intron_variant OV-AU 5 37492649 37492649 single base substitution C A intron_variant OV-AU 5 37497143 37497143 single base substitution G C intron_variant OV-AU 5 37509849 37509849 single base substitution G A intron_variant OV-AU 5 37510188 37510188 single base substitution C A intron_variant OV-AU 5 37515065 37515065 single base substitution C T intron_variant OV-AU 5 37515472 37515472 single base substitution A G intron_variant OV-AU 5 37517462 37517462 single base substitution G A intron_variant OV-AU 5 37519805 37519805 single base substitution G T intron_variant OV-AU 5 37526708 37526708 single base substitution C A intron_variant OV-AU 5 37532590 37532590 single base substitution G T intron_variant OV-AU 5 37532864 37532864 single base substitution A C intron_variant OV-AU 5 37543888 37543888 single base substitution G A intron_variant OV-AU 5 37544804 37544804 single base substitution T G intron_variant OV-AU 5 37552714 37552714 single base substitution C G intron_variant OV-AU 5 37555774 37555774 single base substitution C G intron_variant OV-AU 5 37566814 37566814 single base substitution T G intron_variant OV-AU 5 37570686 37570686 single base substitution G C intron_variant OV-AU 5 37573848 37573848 single base substitution C A intron_variant OV-AU 5 37576880 37576880 single base substitution T C intron_variant OV-AU 5 37578780 37578780 single base substitution C A intron_variant OV-AU 5 37584022 37584022 single base substitution C T intron_variant OV-AU 5 37591211 37591211 single base substitution G T intron_variant OV-AU 5 37594795 37594795 single base substitution G T intron_variant OV-AU 5 37605304 37605304 single base substitution G T exon_variant OV-AU 5 37605304 37605304 single base substitution G T missense_variant Q352H 1056G>T OV-AU 5 37606185 37606185 single base substitution G T intron_variant OV-AU 5 37607781 37607781 single base substitution C A intron_variant OV-AU 5 37613683 37613683 single base substitution A T intron_variant OV-AU 5 37617332 37617332 single base substitution T C intron_variant OV-AU 5 37617654 37617654 single base substitution G A intron_variant OV-AU 5 37629729 37629729 single base substitution T C intron_variant OV-AU 5 37634677 37634677 single base substitution C A intron_variant OV-AU 5 37652631 37652631 single base substitution G T intron_variant OV-AU 5 37655384 37655384 single base substitution G T intron_variant OV-AU 5 37657262 37657262 single base substitution G A intron_variant OV-AU 5 37659179 37659179 single base substitution C T intron_variant OV-AU 5 37659231 37659231 single base substitution A C intron_variant OV-AU 5 37660488 37660488 single base substitution C T intron_variant OV-AU 5 37661550 37661550 single base substitution G T intron_variant OV-AU 5 37661849 37661849 single base substitution G C intron_variant OV-AU 5 37670967 37670967 single base substitution G T intron_variant OV-AU 5 37680145 37680145 single base substitution A C intron_variant OV-AU 5 37694299 37694299 single base substitution A T intron_variant OV-AU 5 37694886 37694886 single base substitution A G intron_variant OV-AU 5 37701758 37701758 single base substitution G T downstream_gene_variant OV-AU 5 37701758 37701758 single base substitution G T intron_variant OV-AU 5 37712086 37712086 single base substitution T C intron_variant OV-AU 5 37712641 37712641 single base substitution T C intron_variant OV-AU 5 37729537 37729537 single base substitution G C intron_variant OV-AU 5 37733398 37733398 single base substitution C T intron_variant OV-AU 5 37734412 37734412 single base substitution A G intron_variant OV-AU 5 37737629 37737629 single base substitution C T intron_variant OV-AU 5 37744598 37744598 single base substitution G A intron_variant OV-AU 5 37745454 37745454 single base substitution G A intron_variant OV-AU 5 37751477 37751477 single base substitution A G intron_variant OV-AU 5 37751876 37751876 single base substitution G A intron_variant OV-US 5 37506927 37506927 single base substitution G A intron_variant PACA-AU 5 37374378 37374378 single base substitution G C upstream_gene_variant PACA-AU 5 37378537 37378537 single base substitution C T upstream_gene_variant PACA-AU 5 37382206 37382206 single base substitution T G downstream_gene_variant PACA-AU 5 37382206 37382206 single base substitution T G intron_variant PACA-AU 5 37385585 37385585 single base substitution C T downstream_gene_variant PACA-AU 5 37385585 37385585 single base substitution C T intron_variant PACA-AU 5 37389081 37389081 single base substitution A T intron_variant PACA-AU 5 37396954 37396954 single base substitution C T intron_variant PACA-AU 5 37404483 37404483 deletion of <=200bp T - intron_variant PACA-AU 5 37405604 37405604 single base substitution G T intron_variant PACA-AU 5 37406062 37406062 single base substitution T G intron_variant PACA-AU 5 37412552 37412552 single base substitution A T intron_variant PACA-AU 5 37419780 37419780 single base substitution G A intron_variant PACA-AU 5 37428546 37428546 single base substitution C A intron_variant PACA-AU 5 37430833 37430833 single base substitution T C intron_variant PACA-AU 5 37431111 37431111 insertion of <=200bp - ATG intron_variant PACA-AU 5 37433450 37433450 single base substitution A G intron_variant PACA-AU 5 37441064 37441064 single base substitution T G intron_variant PACA-AU 5 37442233 37442233 single base substitution G A intron_variant PACA-AU 5 37443442 37443442 single base substitution T G exon_variant PACA-AU 5 37443442 37443442 single base substitution T G missense_variant F218L 654T>G PACA-AU 5 37447443 37447443 single base substitution G C intron_variant PACA-AU 5 37450470 37450470 single base substitution G C intron_variant PACA-AU 5 37450737 37450737 single base substitution G T intron_variant PACA-AU 5 37452801 37452801 single base substitution T A intron_variant PACA-AU 5 37453566 37453566 single base substitution G A intron_variant PACA-AU 5 37454424 37454424 single base substitution A T intron_variant PACA-AU 5 37457083 37457083 single base substitution G T intron_variant PACA-AU 5 37457084 37457084 single base substitution G T intron_variant PACA-AU 5 37464993 37464993 single base substitution C T intron_variant PACA-AU 5 37471878 37471878 deletion of <=200bp T - intron_variant PACA-AU 5 37481838 37481838 single base substitution C A intron_variant PACA-AU 5 37483902 37483902 single base substitution G C intron_variant PACA-AU 5 37485399 37485399 insertion of <=200bp - T intron_variant PACA-AU 5 37492711 37492711 single base substitution A G intron_variant PACA-AU 5 37499699 37499699 single base substitution C T intron_variant PACA-AU 5 37501004 37501004 single base substitution T C intron_variant PACA-AU 5 37503583 37503583 single base substitution C T intron_variant PACA-AU 5 37507970 37507970 deletion of <=200bp T - intron_variant PACA-AU 5 37508690 37508690 single base substitution G T intron_variant PACA-AU 5 37516830 37516830 single base substitution T A intron_variant PACA-AU 5 37519753 37519753 single base substitution G C intron_variant PACA-AU 5 37520205 37520205 deletion of <=200bp A - intron_variant PACA-AU 5 37524598 37524598 single base substitution T A intron_variant PACA-AU 5 37524599 37524599 single base substitution A G intron_variant PACA-AU 5 37524846 37524846 single base substitution G A intron_variant PACA-AU 5 37525538 37525538 single base substitution A G intron_variant PACA-AU 5 37527217 37527217 single base substitution A C intron_variant PACA-AU 5 37527767 37527767 single base substitution C T intron_variant PACA-AU 5 37527945 37527945 single base substitution G T intron_variant PACA-AU 5 37528482 37528482 single base substitution C T intron_variant PACA-AU 5 37529006 37529006 deletion of <=200bp G - intron_variant PACA-AU 5 37531696 37531696 single base substitution T C intron_variant PACA-AU 5 37537923 37537923 single base substitution T G intron_variant PACA-AU 5 37541935 37541935 single base substitution A T intron_variant PACA-AU 5 37548051 37548051 single base substitution C G intron_variant PACA-AU 5 37549069 37549069 single base substitution T G intron_variant PACA-AU 5 37559948 37559948 single base substitution A T intron_variant PACA-AU 5 37565784 37565784 single base substitution T G intron_variant PACA-AU 5 37574187 37574187 deletion of <=200bp A - intron_variant PACA-AU 5 37576575 37576575 single base substitution A G intron_variant PACA-AU 5 37582205 37582208 deletion of <=200bp TTAG - intron_variant PACA-AU 5 37583764 37583764 single base substitution C A intron_variant PACA-AU 5 37586619 37586619 single base substitution G A intron_variant PACA-AU 5 37587014 37587014 single base substitution C T intron_variant PACA-AU 5 37590761 37590761 single base substitution G A intron_variant PACA-AU 5 37596907 37596907 single base substitution G C intron_variant PACA-AU 5 37597676 37597676 single base substitution G T intron_variant PACA-AU 5 37604067 37604067 single base substitution T G intron_variant PACA-AU 5 37607982 37607982 single base substitution A G intron_variant PACA-AU 5 37613742 37613742 single base substitution T G intron_variant PACA-AU 5 37614658 37614658 single base substitution T A intron_variant PACA-AU 5 37615694 37615694 single base substitution A G intron_variant PACA-AU 5 37618529 37618529 single base substitution G A intron_variant PACA-AU 5 37623183 37623183 single base substitution G A intron_variant PACA-AU 5 37625580 37625580 single base substitution G A intron_variant PACA-AU 5 37627594 37627594 single base substitution T A intron_variant PACA-AU 5 37631313 37631313 single base substitution C A intron_variant PACA-AU 5 37635387 37635387 single base substitution A G intron_variant PACA-AU 5 37635845 37635845 single base substitution C T intron_variant PACA-AU 5 37637219 37637219 single base substitution G A intron_variant PACA-AU 5 37637445 37637445 single base substitution A T intron_variant PACA-AU 5 37637446 37637446 insertion of <=200bp - T intron_variant PACA-AU 5 37638224 37638224 single base substitution T G intron_variant PACA-AU 5 37642396 37642396 single base substitution C A intron_variant PACA-AU 5 37646120 37646120 single base substitution A T intron_variant PACA-AU 5 37648452 37648452 single base substitution C G intron_variant PACA-AU 5 37656556 37656556 single base substitution T G intron_variant PACA-AU 5 37661096 37661096 single base substitution G T intron_variant PACA-AU 5 37661386 37661386 single base substitution C T intron_variant PACA-AU 5 37662533 37662533 single base substitution C T intron_variant PACA-AU 5 37666219 37666219 single base substitution G T intron_variant PACA-AU 5 37666964 37666964 single base substitution A G intron_variant PACA-AU 5 37673194 37673194 single base substitution C T intron_variant PACA-AU 5 37673221 37673221 deletion of <=200bp T - intron_variant PACA-AU 5 37677003 37677003 single base substitution A G intron_variant PACA-AU 5 37678204 37678204 deletion of <=200bp T - intron_variant PACA-AU 5 37680738 37680738 single base substitution C T intron_variant PACA-AU 5 37684729 37684729 single base substitution A G intron_variant PACA-AU 5 37685281 37685281 single base substitution A G intron_variant PACA-AU 5 37687257 37687257 single base substitution T A intron_variant PACA-AU 5 37696070 37696070 single base substitution A T intron_variant PACA-AU 5 37696500 37696500 single base substitution C G intron_variant PACA-AU 5 37701295 37701295 single base substitution G C downstream_gene_variant PACA-AU 5 37701295 37701295 single base substitution G C intron_variant PACA-AU 5 37707062 37707062 single base substitution A G downstream_gene_variant PACA-AU 5 37707062 37707062 single base substitution A G intron_variant PACA-AU 5 37708177 37708177 single base substitution C G intron_variant PACA-AU 5 37714633 37714633 single base substitution C G intron_variant PACA-AU 5 37716893 37716893 single base substitution C A intron_variant PACA-AU 5 37717041 37717041 single base substitution C G intron_variant PACA-AU 5 37717775 37717775 single base substitution T G intron_variant PACA-AU 5 37717775 37717775 single base substitution T G upstream_gene_variant PACA-AU 5 37721265 37721265 single base substitution G A exon_variant PACA-AU 5 37721265 37721265 single base substitution G A missense_variant G489R 1465G>A PACA-AU 5 37721265 37721265 single base substitution G A upstream_gene_variant PACA-AU 5 37724256 37724256 deletion of <=200bp A - exon_variant PACA-AU 5 37724256 37724256 deletion of <=200bp A - intron_variant PACA-AU 5 37724256 37724256 deletion of <=200bp A - upstream_gene_variant PACA-AU 5 37724427 37724427 single base substitution T A exon_variant PACA-AU 5 37724427 37724427 single base substitution T A intron_variant PACA-AU 5 37724427 37724427 single base substitution T A upstream_gene_variant PACA-AU 5 37726665 37726665 single base substitution A T intron_variant PACA-AU 5 37739407 37739407 single base substitution T C intron_variant PACA-AU 5 37740697 37740697 single base substitution T A intron_variant PACA-AU 5 37742231 37742231 single base substitution G A intron_variant PACA-AU 5 37745542 37745542 single base substitution A C intron_variant PACA-AU 5 37751172 37751172 deletion of <=200bp T - intron_variant PACA-AU 5 37757116 37757116 single base substitution G A downstream_gene_variant PACA-AU 5 37757419 37757419 single base substitution A G downstream_gene_variant PACA-CA 5 37375045 37375045 single base substitution C A upstream_gene_variant PACA-CA 5 37375315 37375315 single base substitution C A upstream_gene_variant PACA-CA 5 37377096 37377096 single base substitution G A upstream_gene_variant PACA-CA 5 37378451 37378451 single base substitution C T upstream_gene_variant PACA-CA 5 37380422 37380422 single base substitution A G intron_variant PACA-CA 5 37381302 37381302 single base substitution C A intron_variant PACA-CA 5 37381686 37381686 single base substitution C G intron_variant PACA-CA 5 37384514 37384514 single base substitution T C downstream_gene_variant PACA-CA 5 37384514 37384514 single base substitution T C intron_variant PACA-CA 5 37386015 37386015 single base substitution C G downstream_gene_variant PACA-CA 5 37386015 37386015 single base substitution C G intron_variant PACA-CA 5 37387249 37387249 single base substitution T G intron_variant PACA-CA 5 37387250 37387250 single base substitution T G intron_variant PACA-CA 5 37387538 37387538 single base substitution A G intron_variant PACA-CA 5 37394348 37394348 single base substitution G A intron_variant PACA-CA 5 37394499 37394499 single base substitution T G intron_variant PACA-CA 5 37397416 37397416 single base substitution A C intron_variant PACA-CA 5 37398891 37398891 single base substitution A G intron_variant PACA-CA 5 37400004 37400004 single base substitution A G intron_variant PACA-CA 5 37403494 37403494 single base substitution C T intron_variant PACA-CA 5 37403840 37403840 single base substitution A T intron_variant PACA-CA 5 37404483 37404483 deletion of <=200bp T - intron_variant PACA-CA 5 37404961 37404961 single base substitution A T intron_variant PACA-CA 5 37408932 37408932 single base substitution G A intron_variant PACA-CA 5 37409225 37409225 single base substitution G C intron_variant PACA-CA 5 37409411 37409411 single base substitution G A intron_variant PACA-CA 5 37409445 37409445 single base substitution G A intron_variant PACA-CA 5 37409910 37409910 single base substitution G C intron_variant PACA-CA 5 37409948 37409948 single base substitution C G intron_variant PACA-CA 5 37410018 37410018 single base substitution G A intron_variant PACA-CA 5 37410078 37410078 single base substitution T C intron_variant PACA-CA 5 37410079 37410079 single base substitution G C intron_variant PACA-CA 5 37410096 37410096 single base substitution G C intron_variant PACA-CA 5 37410174 37410174 single base substitution G A intron_variant PACA-CA 5 37410377 37410377 single base substitution G C intron_variant PACA-CA 5 37410457 37410457 single base substitution G C intron_variant PACA-CA 5 37410804 37410804 single base substitution G C intron_variant PACA-CA 5 37410843 37410843 single base substitution G A intron_variant PACA-CA 5 37410972 37410972 single base substitution G C intron_variant PACA-CA 5 37411048 37411048 single base substitution G A intron_variant PACA-CA 5 37411052 37411052 single base substitution G T intron_variant PACA-CA 5 37411107 37411107 single base substitution G C intron_variant PACA-CA 5 37411425 37411425 single base substitution G C intron_variant PACA-CA 5 37412899 37412899 single base substitution T C intron_variant PACA-CA 5 37423451 37423451 single base substitution T A intron_variant PACA-CA 5 37425209 37425209 single base substitution G A intron_variant PACA-CA 5 37425908 37425908 single base substitution G A intron_variant PACA-CA 5 37426832 37426832 single base substitution G A intron_variant PACA-CA 5 37428472 37428472 single base substitution C G intron_variant PACA-CA 5 37432006 37432006 single base substitution G C intron_variant PACA-CA 5 37432619 37432619 single base substitution T C intron_variant PACA-CA 5 37432787 37432787 single base substitution C T intron_variant PACA-CA 5 37438110 37438110 single base substitution T C intron_variant PACA-CA 5 37438539 37438539 single base substitution C A intron_variant PACA-CA 5 37441919 37441919 insertion of <=200bp - A intron_variant PACA-CA 5 37444736 37444736 single base substitution C T intron_variant PACA-CA 5 37449714 37449716 deletion of <=200bp AAA - intron_variant PACA-CA 5 37453758 37453758 single base substitution G T intron_variant PACA-CA 5 37454423 37454423 single base substitution T A intron_variant PACA-CA 5 37457764 37457764 deletion of <=200bp T - intron_variant PACA-CA 5 37465265 37465265 single base substitution A T intron_variant PACA-CA 5 37467941 37467941 single base substitution C A intron_variant PACA-CA 5 37475829 37475829 single base substitution A T intron_variant PACA-CA 5 37475829 37475829 single base substitution A T upstream_gene_variant PACA-CA 5 37477259 37477259 single base substitution G A intron_variant PACA-CA 5 37477259 37477259 single base substitution G A upstream_gene_variant PACA-CA 5 37481223 37481223 single base substitution G C intron_variant PACA-CA 5 37482336 37482336 single base substitution C A intron_variant PACA-CA 5 37484568 37484568 single base substitution A T intron_variant PACA-CA 5 37485744 37485744 single base substitution A G intron_variant PACA-CA 5 37485763 37485763 single base substitution A G intron_variant PACA-CA 5 37486690 37486690 single base substitution G T intron_variant PACA-CA 5 37486783 37486783 single base substitution G A intron_variant PACA-CA 5 37488139 37488139 single base substitution C A intron_variant PACA-CA 5 37488897 37488897 single base substitution C A intron_variant PACA-CA 5 37491979 37491979 single base substitution C T intron_variant PACA-CA 5 37492927 37492927 single base substitution C T intron_variant PACA-CA 5 37493863 37493863 single base substitution C A intron_variant PACA-CA 5 37494336 37494336 single base substitution T G intron_variant PACA-CA 5 37498960 37498960 single base substitution T A intron_variant PACA-CA 5 37501331 37501331 single base substitution A G intron_variant PACA-CA 5 37502573 37502573 single base substitution T C intron_variant PACA-CA 5 37504707 37504707 single base substitution T C intron_variant PACA-CA 5 37505964 37505964 insertion of <=200bp - T intron_variant PACA-CA 5 37508248 37508248 insertion of <=200bp - C intron_variant PACA-CA 5 37510188 37510188 single base substitution C A intron_variant PACA-CA 5 37513504 37513504 single base substitution C G intron_variant PACA-CA 5 37513628 37513628 single base substitution A G intron_variant PACA-CA 5 37514883 37514883 single base substitution C T intron_variant PACA-CA 5 37523213 37523213 single base substitution C T intron_variant PACA-CA 5 37523327 37523327 single base substitution C G intron_variant PACA-CA 5 37524603 37524603 single base substitution A T intron_variant PACA-CA 5 37526806 37526806 single base substitution C T intron_variant PACA-CA 5 37528132 37528132 single base substitution G C intron_variant PACA-CA 5 37530153 37530153 single base substitution A G intron_variant PACA-CA 5 37539995 37539998 deletion of <=200bp TTCT - intron_variant PACA-CA 5 37542502 37542502 single base substitution C G intron_variant PACA-CA 5 37542539 37542539 single base substitution G A intron_variant PACA-CA 5 37543814 37543814 single base substitution A T intron_variant PACA-CA 5 37546926 37546928 deletion of <=200bp AGG - intron_variant PACA-CA 5 37551438 37551438 deletion of <=200bp A - intron_variant PACA-CA 5 37553615 37553615 single base substitution T A intron_variant PACA-CA 5 37553672 37553672 single base substitution G A intron_variant PACA-CA 5 37570315 37570315 single base substitution C G intron_variant PACA-CA 5 37571245 37571245 single base substitution A T intron_variant PACA-CA 5 37575308 37575308 single base substitution C A intron_variant PACA-CA 5 37576723 37576723 single base substitution C G intron_variant PACA-CA 5 37576849 37576849 single base substitution C G intron_variant PACA-CA 5 37577237 37577237 single base substitution T C intron_variant PACA-CA 5 37578369 37578369 single base substitution A T intron_variant PACA-CA 5 37578910 37578910 single base substitution C G intron_variant PACA-CA 5 37580377 37580377 single base substitution A T intron_variant PACA-CA 5 37582085 37582085 single base substitution T G intron_variant PACA-CA 5 37582619 37582619 single base substitution G A intron_variant PACA-CA 5 37583701 37583701 single base substitution C A intron_variant PACA-CA 5 37584174 37584174 single base substitution C A intron_variant PACA-CA 5 37586891 37586891 single base substitution C A intron_variant PACA-CA 5 37588394 37588394 single base substitution T G intron_variant PACA-CA 5 37592358 37592358 single base substitution A T intron_variant PACA-CA 5 37593103 37593103 single base substitution A G intron_variant PACA-CA 5 37601642 37601642 single base substitution G A intron_variant PACA-CA 5 37604034 37604034 single base substitution C G intron_variant PACA-CA 5 37606325 37606325 single base substitution G A intron_variant PACA-CA 5 37610081 37610081 single base substitution C A intron_variant PACA-CA 5 37616788 37616788 single base substitution T C intron_variant PACA-CA 5 37621909 37621909 single base substitution C A intron_variant PACA-CA 5 37633574 37633574 single base substitution T G intron_variant PACA-CA 5 37633879 37633879 single base substitution A G intron_variant PACA-CA 5 37635735 37635735 single base substitution T G intron_variant PACA-CA 5 37636863 37636863 single base substitution A C intron_variant PACA-CA 5 37638890 37638890 single base substitution C T intron_variant PACA-CA 5 37639343 37639343 single base substitution C T intron_variant PACA-CA 5 37642277 37642277 single base substitution C T intron_variant PACA-CA 5 37646076 37646076 single base substitution T G intron_variant PACA-CA 5 37646120 37646120 single base substitution A T intron_variant PACA-CA 5 37646675 37646675 single base substitution G A intron_variant PACA-CA 5 37647191 37647191 single base substitution C G intron_variant PACA-CA 5 37649460 37649460 single base substitution A G intron_variant PACA-CA 5 37652556 37652556 single base substitution T C intron_variant PACA-CA 5 37654552 37654552 single base substitution C G intron_variant PACA-CA 5 37658702 37658702 single base substitution C G intron_variant PACA-CA 5 37660275 37660275 single base substitution A G intron_variant PACA-CA 5 37661409 37661409 single base substitution C T intron_variant PACA-CA 5 37662160 37662160 single base substitution G A intron_variant PACA-CA 5 37663109 37663109 single base substitution G T intron_variant PACA-CA 5 37663110 37663110 single base substitution C G intron_variant PACA-CA 5 37664758 37664758 single base substitution T G intron_variant PACA-CA 5 37666711 37666711 single base substitution C A intron_variant PACA-CA 5 37667517 37667517 single base substitution G T intron_variant PACA-CA 5 37667647 37667647 insertion of <=200bp - T intron_variant PACA-CA 5 37668336 37668336 insertion of <=200bp - T intron_variant PACA-CA 5 37672371 37672371 single base substitution G C intron_variant PACA-CA 5 37673066 37673066 insertion of <=200bp - G intron_variant PACA-CA 5 37673498 37673498 single base substitution C G intron_variant PACA-CA 5 37678125 37678125 single base substitution T A intron_variant PACA-CA 5 37679287 37679287 single base substitution C A intron_variant PACA-CA 5 37685106 37685106 single base substitution G A intron_variant PACA-CA 5 37689598 37689598 single base substitution T C intron_variant PACA-CA 5 37691154 37691154 deletion of <=200bp A - intron_variant PACA-CA 5 37701069 37701069 single base substitution T C downstream_gene_variant PACA-CA 5 37701069 37701069 single base substitution T C intron_variant PACA-CA 5 37701133 37701133 deletion of <=200bp T - downstream_gene_variant PACA-CA 5 37701133 37701133 deletion of <=200bp T - intron_variant PACA-CA 5 37703093 37703093 single base substitution T C exon_variant PACA-CA 5 37703093 37703093 single base substitution T C synonymous_variant T440T 1320T>C PACA-CA 5 37708854 37708854 single base substitution G A intron_variant PACA-CA 5 37710698 37710698 single base substitution C T intron_variant PACA-CA 5 37710699 37710699 single base substitution A G intron_variant PACA-CA 5 37710905 37710905 single base substitution A T intron_variant PACA-CA 5 37713771 37713771 insertion of <=200bp - A intron_variant PACA-CA 5 37714180 37714180 single base substitution A T intron_variant PACA-CA 5 37715928 37715928 deletion of <=200bp T - intron_variant PACA-CA 5 37716898 37716898 single base substitution T C intron_variant PACA-CA 5 37717435 37717435 single base substitution G A intron_variant PACA-CA 5 37719020 37719020 single base substitution T G intron_variant PACA-CA 5 37719020 37719020 single base substitution T G upstream_gene_variant PACA-CA 5 37719785 37719785 single base substitution A G intron_variant PACA-CA 5 37719785 37719785 single base substitution A G upstream_gene_variant PACA-CA 5 37721268 37721268 single base substitution A G exon_variant PACA-CA 5 37721268 37721268 single base substitution A G missense_variant T490A 1468A>G PACA-CA 5 37721268 37721268 single base substitution A G upstream_gene_variant PACA-CA 5 37722019 37722019 single base substitution C T exon_variant PACA-CA 5 37722019 37722019 single base substitution C T intron_variant PACA-CA 5 37722019 37722019 single base substitution C T upstream_gene_variant PACA-CA 5 37722951 37722951 single base substitution C T exon_variant PACA-CA 5 37722951 37722951 single base substitution C T splice_region_variant PACA-CA 5 37722951 37722951 single base substitution C T upstream_gene_variant PACA-CA 5 37730103 37730103 single base substitution G A intron_variant PACA-CA 5 37731718 37731718 single base substitution A G intron_variant PACA-CA 5 37741059 37741059 single base substitution T G intron_variant PACA-CA 5 37741805 37741805 single base substitution A G intron_variant PACA-CA 5 37748562 37748562 single base substitution A G intron_variant PACA-CA 5 37750274 37750274 single base substitution G A intron_variant PACA-CA 5 37751989 37751989 single base substitution T C intron_variant PACA-CA 5 37758283 37758283 single base substitution A T downstream_gene_variant PAEN-AU 5 37432643 37432643 single base substitution A C intron_variant PAEN-AU 5 37432898 37432898 single base substitution C T intron_variant PAEN-AU 5 37437406 37437406 single base substitution A G intron_variant PAEN-AU 5 37439716 37439716 single base substitution T C intron_variant PAEN-AU 5 37483139 37483139 single base substitution G A intron_variant PAEN-AU 5 37495587 37495587 single base substitution T C intron_variant PAEN-AU 5 37562551 37562551 single base substitution T C intron_variant PAEN-AU 5 37582169 37582169 single base substitution C A intron_variant PAEN-AU 5 37591384 37591384 single base substitution G A intron_variant PAEN-AU 5 37595142 37595142 single base substitution C T intron_variant PAEN-AU 5 37652308 37652308 single base substitution C A intron_variant PAEN-AU 5 37670698 37670698 single base substitution C G intron_variant PAEN-AU 5 37688137 37688137 single base substitution A G intron_variant PAEN-AU 5 37701292 37701292 single base substitution G T downstream_gene_variant PAEN-AU 5 37701292 37701292 single base substitution G T intron_variant PAEN-AU 5 37715756 37715756 single base substitution G C intron_variant PAEN-AU 5 37740226 37740226 single base substitution G A intron_variant PAEN-IT 5 37389272 37389272 single base substitution G A intron_variant PAEN-IT 5 37401121 37401121 single base substitution G T intron_variant PAEN-IT 5 37445629 37445629 single base substitution G A intron_variant PAEN-IT 5 37452082 37452082 single base substitution G A intron_variant PAEN-IT 5 37457258 37457258 single base substitution C T intron_variant PAEN-IT 5 37486467 37486467 single base substitution A G intron_variant PAEN-IT 5 37569649 37569649 single base substitution G T intron_variant PAEN-IT 5 37591560 37591560 single base substitution G A intron_variant PAEN-IT 5 37603649 37603649 single base substitution G T intron_variant PAEN-IT 5 37657491 37657491 single base substitution C A intron_variant PAEN-IT 5 37711947 37711947 single base substitution T C intron_variant PAEN-IT 5 37744186 37744186 single base substitution C T intron_variant PBCA-DE 5 37378056 37378056 single base substitution G A upstream_gene_variant PBCA-DE 5 37379024 37379024 insertion of <=200bp - A upstream_gene_variant PBCA-DE 5 37391197 37391197 single base substitution A T intron_variant PBCA-DE 5 37404094 37404094 single base substitution C T intron_variant PBCA-DE 5 37425124 37425124 single base substitution G C intron_variant PBCA-DE 5 37454656 37454656 single base substitution C A intron_variant PBCA-DE 5 37469403 37469403 single base substitution G A intron_variant PBCA-DE 5 37476168 37476168 single base substitution G A intron_variant PBCA-DE 5 37476168 37476168 single base substitution G A upstream_gene_variant PBCA-DE 5 37481042 37481042 insertion of <=200bp - T intron_variant PBCA-DE 5 37497573 37497573 single base substitution T C intron_variant PBCA-DE 5 37497580 37497580 single base substitution C G intron_variant PBCA-DE 5 37508132 37508132 single base substitution G A intron_variant PBCA-DE 5 37509874 37509874 single base substitution G A intron_variant PBCA-DE 5 37514747 37514747 single base substitution G A intron_variant PBCA-DE 5 37517720 37517720 single base substitution C T intron_variant PBCA-DE 5 37526886 37526886 single base substitution G T intron_variant PBCA-DE 5 37532922 37532922 single base substitution G A intron_variant PBCA-DE 5 37533414 37533414 single base substitution C T intron_variant PBCA-DE 5 37535674 37535674 single base substitution C T intron_variant PBCA-DE 5 37538451 37538451 single base substitution G A intron_variant PBCA-DE 5 37540006 37540006 single base substitution A G intron_variant PBCA-DE 5 37541393 37541393 insertion of <=200bp - T intron_variant PBCA-DE 5 37562383 37562383 single base substitution G A intron_variant PBCA-DE 5 37564656 37564659 deletion of <=200bp CCGT - intron_variant PBCA-DE 5 37564656 37564660 deletion of <=200bp CCGTG - intron_variant PBCA-DE 5 37564665 37564665 insertion of <=200bp - GAG intron_variant PBCA-DE 5 37566714 37566714 single base substitution A C intron_variant PBCA-DE 5 37579728 37579728 single base substitution C A intron_variant PBCA-DE 5 37580353 37580353 single base substitution G C intron_variant PBCA-DE 5 37581716 37581716 single base substitution A G intron_variant PBCA-DE 5 37591971 37591971 single base substitution T G intron_variant PBCA-DE 5 37611894 37611894 single base substitution T A intron_variant PBCA-DE 5 37611895 37611895 single base substitution T A intron_variant PBCA-DE 5 37611896 37611896 single base substitution T A intron_variant PBCA-DE 5 37623773 37623773 single base substitution C A intron_variant PBCA-DE 5 37628347 37628347 single base substitution T A intron_variant PBCA-DE 5 37666154 37666154 single base substitution G A intron_variant PBCA-DE 5 37667885 37667885 single base substitution A G intron_variant PBCA-DE 5 37682019 37682019 single base substitution T C intron_variant PBCA-DE 5 37694943 37694943 insertion of <=200bp - ATA intron_variant PBCA-DE 5 37698444 37698444 single base substitution G A downstream_gene_variant PBCA-DE 5 37698444 37698444 single base substitution G A intron_variant PBCA-DE 5 37698887 37698887 single base substitution T G downstream_gene_variant PBCA-DE 5 37698887 37698887 single base substitution T G intron_variant PBCA-DE 5 37702232 37702232 single base substitution G T downstream_gene_variant PBCA-DE 5 37702232 37702232 single base substitution G T intron_variant PBCA-DE 5 37705743 37705743 insertion of <=200bp - A downstream_gene_variant PBCA-DE 5 37705743 37705743 insertion of <=200bp - A intron_variant PBCA-DE 5 37714546 37714546 single base substitution A G intron_variant PBCA-DE 5 37719452 37719452 deletion of <=200bp C - intron_variant PBCA-DE 5 37719452 37719452 deletion of <=200bp C - upstream_gene_variant PBCA-DE 5 37726699 37726699 single base substitution T G intron_variant PBCA-DE 5 37750637 37750637 insertion of <=200bp - A intron_variant PRAD-CA 5 37394204 37394204 single base substitution C T intron_variant PRAD-CA 5 37414846 37414846 single base substitution C T intron_variant PRAD-CA 5 37474112 37474112 single base substitution A G intron_variant PRAD-CA 5 37474517 37474517 single base substitution C T intron_variant PRAD-CA 5 37475838 37475838 single base substitution T C intron_variant PRAD-CA 5 37475838 37475838 single base substitution T C upstream_gene_variant PRAD-CA 5 37479468 37479468 single base substitution G T intron_variant PRAD-CA 5 37479468 37479468 single base substitution G T upstream_gene_variant PRAD-CA 5 37491095 37491095 single base substitution C T intron_variant PRAD-CA 5 37494959 37494959 single base substitution T C intron_variant PRAD-CA 5 37497529 37497529 single base substitution C G intron_variant PRAD-CA 5 37506831 37506831 single base substitution A C intron_variant PRAD-CA 5 37521290 37521290 single base substitution C T intron_variant PRAD-CA 5 37533574 37533574 single base substitution C A intron_variant PRAD-CA 5 37537256 37537256 single base substitution T G intron_variant PRAD-CA 5 37598545 37598545 single base substitution T C intron_variant PRAD-CA 5 37603960 37603960 single base substitution A G intron_variant PRAD-CA 5 37614878 37614878 single base substitution T C intron_variant PRAD-CA 5 37671022 37671022 single base substitution G C intron_variant PRAD-CA 5 37674442 37674442 single base substitution G A intron_variant PRAD-CA 5 37698317 37698317 single base substitution T A downstream_gene_variant PRAD-CA 5 37698317 37698317 single base substitution T A intron_variant PRAD-CA 5 37699462 37699462 single base substitution A T downstream_gene_variant PRAD-CA 5 37699462 37699462 single base substitution A T intron_variant PRAD-CA 5 37730684 37730684 single base substitution A G intron_variant PRAD-CA 5 37734181 37734181 single base substitution T A intron_variant PRAD-CA 5 37736729 37736729 single base substitution T C intron_variant PRAD-CA 5 37742641 37742641 single base substitution C G intron_variant PRAD-CA 5 37747754 37747754 single base substitution G A intron_variant PRAD-UK 5 37395481 37395481 single base substitution G A intron_variant PRAD-UK 5 37397878 37397878 single base substitution C T intron_variant PRAD-UK 5 37400185 37400185 single base substitution C T intron_variant PRAD-UK 5 37403864 37403864 single base substitution G A intron_variant PRAD-UK 5 37404459 37404459 single base substitution A T intron_variant PRAD-UK 5 37408821 37408821 single base substitution A T intron_variant PRAD-UK 5 37411887 37411887 single base substitution C T intron_variant PRAD-UK 5 37418017 37418017 single base substitution T C intron_variant PRAD-UK 5 37430806 37430806 single base substitution G T intron_variant PRAD-UK 5 37432962 37432962 single base substitution G A intron_variant PRAD-UK 5 37437085 37437085 single base substitution C T intron_variant PRAD-UK 5 37443846 37443846 single base substitution C G intron_variant PRAD-UK 5 37444353 37444353 single base substitution A G intron_variant PRAD-UK 5 37444409 37444409 single base substitution C G intron_variant PRAD-UK 5 37469120 37469120 single base substitution C G intron_variant PRAD-UK 5 37476241 37476241 single base substitution C A intron_variant PRAD-UK 5 37476241 37476241 single base substitution C A upstream_gene_variant PRAD-UK 5 37482871 37482871 single base substitution C G intron_variant PRAD-UK 5 37499624 37499624 insertion of <=200bp - T intron_variant PRAD-UK 5 37501307 37501307 single base substitution G C intron_variant PRAD-UK 5 37507964 37507965 deletion of <=200bp AT - intron_variant PRAD-UK 5 37510188 37510188 single base substitution C A intron_variant PRAD-UK 5 37512482 37512482 single base substitution C T intron_variant PRAD-UK 5 37523832 37523832 insertion of <=200bp - A intron_variant PRAD-UK 5 37525331 37525331 single base substitution G T intron_variant PRAD-UK 5 37527802 37527802 single base substitution A G intron_variant PRAD-UK 5 37535273 37535273 single base substitution G A intron_variant PRAD-UK 5 37545380 37545380 single base substitution G A intron_variant PRAD-UK 5 37545721 37545721 single base substitution G A intron_variant PRAD-UK 5 37553219 37553219 single base substitution A G intron_variant PRAD-UK 5 37557246 37557246 single base substitution T G intron_variant PRAD-UK 5 37561352 37561352 single base substitution A C intron_variant PRAD-UK 5 37562551 37562551 single base substitution T C intron_variant PRAD-UK 5 37566374 37566374 single base substitution G A intron_variant PRAD-UK 5 37581830 37581830 single base substitution G A intron_variant PRAD-UK 5 37583805 37583805 single base substitution G T intron_variant PRAD-UK 5 37592280 37592280 single base substitution C T intron_variant PRAD-UK 5 37595996 37595996 single base substitution G A intron_variant PRAD-UK 5 37597456 37597456 single base substitution A G intron_variant PRAD-UK 5 37608867 37608867 single base substitution C T intron_variant PRAD-UK 5 37618955 37618955 single base substitution G A intron_variant PRAD-UK 5 37629940 37629940 single base substitution C T intron_variant PRAD-UK 5 37630667 37630679 deletion of <=200bp CCAAGGATGGATT - intron_variant PRAD-UK 5 37631624 37631624 single base substitution A C intron_variant PRAD-UK 5 37672434 37672434 single base substitution G T intron_variant PRAD-UK 5 37677909 37677909 insertion of <=200bp - ATT intron_variant PRAD-UK 5 37677909 37677909 insertion of <=200bp - GTT intron_variant PRAD-UK 5 37684191 37684191 single base substitution C G intron_variant PRAD-UK 5 37692165 37692165 single base substitution G C intron_variant PRAD-UK 5 37693999 37693999 single base substitution T C intron_variant PRAD-UK 5 37699623 37699623 single base substitution A G downstream_gene_variant PRAD-UK 5 37699623 37699623 single base substitution A G intron_variant PRAD-UK 5 37713013 37713013 single base substitution A T intron_variant PRAD-UK 5 37724381 37724381 deletion of <=200bp A - exon_variant PRAD-UK 5 37724381 37724381 deletion of <=200bp A - intron_variant PRAD-UK 5 37724381 37724381 deletion of <=200bp A - upstream_gene_variant PRAD-UK 5 37755551 37755551 single base substitution C A downstream_gene_variant PRAD-US 5 37379473 37379473 single base substitution G T exon_variant PRAD-US 5 37379473 37379473 single base substitution G T stop_gained E2* 4G>T READ-US 5 37443390 37443390 single base substitution G A exon_variant READ-US 5 37443390 37443390 single base substitution G A missense_variant G201E 602G>A READ-US 5 37605188 37605188 single base substitution G T exon_variant READ-US 5 37605188 37605188 single base substitution G T stop_gained E314* 940G>T RECA-EU 5 37381972 37381972 single base substitution A T downstream_gene_variant RECA-EU 5 37381972 37381972 single base substitution A T intron_variant RECA-EU 5 37390964 37390964 single base substitution A C intron_variant RECA-EU 5 37391159 37391159 single base substitution T G intron_variant RECA-EU 5 37396400 37396400 single base substitution C T intron_variant RECA-EU 5 37423214 37423214 single base substitution G A intron_variant RECA-EU 5 37429687 37429687 single base substitution T A intron_variant RECA-EU 5 37433892 37433892 single base substitution T A intron_variant RECA-EU 5 37435131 37435131 single base substitution A C intron_variant RECA-EU 5 37436253 37436253 single base substitution A G intron_variant RECA-EU 5 37450111 37450111 single base substitution G A intron_variant RECA-EU 5 37452462 37452462 single base substitution G A intron_variant RECA-EU 5 37461573 37461573 single base substitution A T intron_variant RECA-EU 5 37470363 37470363 single base substitution G C intron_variant RECA-EU 5 37474915 37474915 single base substitution A T intron_variant RECA-EU 5 37474915 37474915 single base substitution A T upstream_gene_variant RECA-EU 5 37480395 37480395 single base substitution C G intron_variant RECA-EU 5 37501726 37501726 single base substitution A G intron_variant RECA-EU 5 37505278 37505278 single base substitution C T intron_variant RECA-EU 5 37515222 37515222 single base substitution G C intron_variant RECA-EU 5 37525386 37525386 single base substitution A G intron_variant RECA-EU 5 37525957 37525957 single base substitution C G intron_variant RECA-EU 5 37529481 37529481 single base substitution G A intron_variant RECA-EU 5 37538341 37538341 single base substitution C T intron_variant RECA-EU 5 37545835 37545835 single base substitution A T intron_variant RECA-EU 5 37546668 37546668 single base substitution G A intron_variant RECA-EU 5 37567118 37567118 single base substitution A C intron_variant RECA-EU 5 37567441 37567441 single base substitution G C intron_variant RECA-EU 5 37571903 37571903 single base substitution T C intron_variant RECA-EU 5 37583126 37583126 single base substitution C A intron_variant RECA-EU 5 37586259 37586259 single base substitution G A intron_variant RECA-EU 5 37598808 37598808 single base substitution G T intron_variant RECA-EU 5 37608560 37608560 single base substitution A T intron_variant RECA-EU 5 37614912 37614912 single base substitution G C intron_variant RECA-EU 5 37631270 37631270 single base substitution T C intron_variant RECA-EU 5 37644346 37644346 single base substitution A C intron_variant RECA-EU 5 37648106 37648106 single base substitution C G intron_variant RECA-EU 5 37649838 37649838 single base substitution T C intron_variant RECA-EU 5 37658736 37658736 single base substitution T C intron_variant RECA-EU 5 37665095 37665095 single base substitution G A intron_variant RECA-EU 5 37667013 37667013 single base substitution A T intron_variant RECA-EU 5 37678845 37678845 single base substitution G C intron_variant RECA-EU 5 37681614 37681614 single base substitution T G intron_variant RECA-EU 5 37695386 37695386 single base substitution G C intron_variant RECA-EU 5 37704905 37704905 single base substitution A T downstream_gene_variant RECA-EU 5 37704905 37704905 single base substitution A T intron_variant RECA-EU 5 37707277 37707277 single base substitution G C downstream_gene_variant RECA-EU 5 37707277 37707277 single base substitution G C intron_variant RECA-EU 5 37715002 37715002 single base substitution T C intron_variant RECA-EU 5 37715003 37715003 single base substitution C T intron_variant RECA-EU 5 37718345 37718345 single base substitution T C intron_variant RECA-EU 5 37718345 37718345 single base substitution T C upstream_gene_variant RECA-EU 5 37718381 37718381 single base substitution A G intron_variant RECA-EU 5 37718381 37718381 single base substitution A G upstream_gene_variant RECA-EU 5 37719271 37719271 single base substitution G A intron_variant RECA-EU 5 37719271 37719271 single base substitution G A upstream_gene_variant RECA-EU 5 37722462 37722462 single base substitution A G exon_variant RECA-EU 5 37722462 37722462 single base substitution A G intron_variant RECA-EU 5 37722462 37722462 single base substitution A G upstream_gene_variant RECA-EU 5 37729394 37729394 single base substitution A C intron_variant RECA-EU 5 37741706 37741706 single base substitution T C intron_variant RECA-EU 5 37742973 37742973 single base substitution G A intron_variant RECA-EU 5 37746854 37746854 single base substitution A G intron_variant RECA-EU 5 37750992 37750992 single base substitution C T intron_variant SKCA-BR 5 37374838 37374838 single base substitution C T upstream_gene_variant SKCA-BR 5 37375992 37375992 single base substitution C T upstream_gene_variant SKCA-BR 5 37376247 37376247 single base substitution C T upstream_gene_variant SKCA-BR 5 37376345 37376345 single base substitution G A upstream_gene_variant SKCA-BR 5 37376622 37376622 single base substitution G A upstream_gene_variant SKCA-BR 5 37378710 37378710 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 5 37379245 37379245 single base substitution T C upstream_gene_variant SKCA-BR 5 37382675 37382675 single base substitution A G downstream_gene_variant SKCA-BR 5 37382675 37382675 single base substitution A G intron_variant SKCA-BR 5 37384275 37384277 deletion of <=200bp CTT - downstream_gene_variant SKCA-BR 5 37384275 37384277 deletion of <=200bp CTT - intron_variant SKCA-BR 5 37387330 37387330 single base substitution C T intron_variant SKCA-BR 5 37388413 37388413 single base substitution T G intron_variant SKCA-BR 5 37390012 37390012 single base substitution C T intron_variant SKCA-BR 5 37393638 37393638 single base substitution C T intron_variant SKCA-BR 5 37394291 37394291 single base substitution C T intron_variant SKCA-BR 5 37395739 37395739 single base substitution C A intron_variant SKCA-BR 5 37397221 37397221 single base substitution A G intron_variant SKCA-BR 5 37397254 37397254 single base substitution A C intron_variant SKCA-BR 5 37399363 37399363 single base substitution G A intron_variant SKCA-BR 5 37401418 37401419 deletion of <=200bp AT - intron_variant SKCA-BR 5 37402429 37402429 single base substitution G A intron_variant SKCA-BR 5 37403817 37403817 single base substitution T A intron_variant SKCA-BR 5 37404026 37404026 single base substitution G A intron_variant SKCA-BR 5 37404586 37404586 single base substitution A G intron_variant SKCA-BR 5 37405210 37405210 single base substitution G A intron_variant SKCA-BR 5 37410153 37410153 insertion of <=200bp - GT intron_variant SKCA-BR 5 37410317 37410317 single base substitution C T intron_variant SKCA-BR 5 37412774 37412774 single base substitution C T intron_variant SKCA-BR 5 37415730 37415730 single base substitution C T intron_variant SKCA-BR 5 37419230 37419230 single base substitution C T intron_variant SKCA-BR 5 37419898 37419898 single base substitution G A intron_variant SKCA-BR 5 37421722 37421722 single base substitution G C intron_variant SKCA-BR 5 37422956 37422956 insertion of <=200bp - TGA intron_variant SKCA-BR 5 37424250 37424251 deletion of <=200bp CA - intron_variant SKCA-BR 5 37425148 37425148 single base substitution G A intron_variant SKCA-BR 5 37425850 37425850 single base substitution G T intron_variant SKCA-BR 5 37427278 37427278 single base substitution T G intron_variant SKCA-BR 5 37428109 37428109 insertion of <=200bp - CT intron_variant SKCA-BR 5 37433083 37433083 single base substitution C T intron_variant SKCA-BR 5 37442135 37442138 deletion of <=200bp ATTT - intron_variant SKCA-BR 5 37442444 37442445 deletion of <=200bp AT - intron_variant SKCA-BR 5 37443647 37443647 single base substitution C T intron_variant SKCA-BR 5 37444223 37444223 single base substitution C T intron_variant SKCA-BR 5 37445545 37445545 single base substitution C T intron_variant SKCA-BR 5 37448355 37448355 single base substitution C T intron_variant SKCA-BR 5 37449519 37449519 single base substitution C A intron_variant SKCA-BR 5 37449703 37449713 deletion of <=200bp AAATAAAAAAT - intron_variant SKCA-BR 5 37451193 37451193 single base substitution T G intron_variant SKCA-BR 5 37452738 37452738 single base substitution C T intron_variant SKCA-BR 5 37455329 37455329 single base substitution C T intron_variant SKCA-BR 5 37455345 37455346 deletion of <=200bp CT - intron_variant SKCA-BR 5 37455953 37455953 single base substitution C T intron_variant SKCA-BR 5 37460716 37460716 single base substitution A G intron_variant SKCA-BR 5 37463314 37463314 single base substitution C T intron_variant SKCA-BR 5 37463374 37463375 deletion of <=200bp GA - intron_variant SKCA-BR 5 37465760 37465761 deletion of <=200bp GT - intron_variant SKCA-BR 5 37465779 37465780 deletion of <=200bp TC - intron_variant SKCA-BR 5 37466383 37466383 single base substitution A G intron_variant SKCA-BR 5 37466531 37466531 single base substitution G A intron_variant SKCA-BR 5 37466807 37466811 deletion of <=200bp CAAAA - intron_variant SKCA-BR 5 37467636 37467639 deletion of <=200bp ATTT - intron_variant SKCA-BR 5 37468555 37468555 single base substitution C T intron_variant SKCA-BR 5 37470547 37470547 single base substitution C A intron_variant SKCA-BR 5 37470993 37470994 deletion of <=200bp CT - intron_variant SKCA-BR 5 37474028 37474028 single base substitution A G intron_variant SKCA-BR 5 37475305 37475306 deletion of <=200bp AG - intron_variant SKCA-BR 5 37475305 37475306 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 5 37475307 37475307 single base substitution C A intron_variant SKCA-BR 5 37475307 37475307 single base substitution C A upstream_gene_variant SKCA-BR 5 37479464 37479464 single base substitution G T intron_variant SKCA-BR 5 37479464 37479464 single base substitution G T upstream_gene_variant SKCA-BR 5 37479468 37479469 deletion of <=200bp GT - intron_variant SKCA-BR 5 37479468 37479469 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 5 37479671 37479671 single base substitution C T intron_variant SKCA-BR 5 37481975 37481975 single base substitution C T intron_variant SKCA-BR 5 37482223 37482223 single base substitution C T intron_variant SKCA-BR 5 37482349 37482349 single base substitution C G intron_variant SKCA-BR 5 37482634 37482634 single base substitution C T intron_variant SKCA-BR 5 37483203 37483204 deletion of <=200bp GT - intron_variant SKCA-BR 5 37483658 37483658 single base substitution C T intron_variant SKCA-BR 5 37483847 37483847 single base substitution C T intron_variant SKCA-BR 5 37483858 37483858 single base substitution G A intron_variant SKCA-BR 5 37484583 37484583 single base substitution T G intron_variant SKCA-BR 5 37486571 37486571 single base substitution G T intron_variant SKCA-BR 5 37487296 37487296 single base substitution C T intron_variant SKCA-BR 5 37487721 37487730 deletion of <=200bp ATATATGTAT - intron_variant SKCA-BR 5 37490139 37490139 single base substitution C T intron_variant SKCA-BR 5 37493933 37493934 deletion of <=200bp CT - intron_variant SKCA-BR 5 37496577 37496577 single base substitution C T intron_variant SKCA-BR 5 37497573 37497573 single base substitution T C intron_variant SKCA-BR 5 37499605 37499605 single base substitution T G intron_variant SKCA-BR 5 37499689 37499689 insertion of <=200bp - TTTTC intron_variant SKCA-BR 5 37499689 37499689 insertion of <=200bp - TTTTCTCTC intron_variant SKCA-BR 5 37499695 37499695 insertion of <=200bp - CTCTCTCTCTCTCTTTT intron_variant SKCA-BR 5 37499701 37499701 single base substitution C T intron_variant SKCA-BR 5 37500391 37500391 single base substitution T G intron_variant SKCA-BR 5 37502478 37502478 single base substitution A T intron_variant SKCA-BR 5 37505665 37505665 single base substitution C T intron_variant SKCA-BR 5 37507018 37507018 single base substitution C T intron_variant SKCA-BR 5 37510188 37510188 insertion of <=200bp - CA intron_variant SKCA-BR 5 37512334 37512334 single base substitution T A intron_variant SKCA-BR 5 37516812 37516814 deletion of <=200bp TAC - intron_variant SKCA-BR 5 37516824 37516825 deletion of <=200bp TA - intron_variant SKCA-BR 5 37517471 37517471 insertion of <=200bp - AT intron_variant SKCA-BR 5 37519905 37519905 single base substitution C T intron_variant SKCA-BR 5 37520875 37520875 single base substitution A G intron_variant SKCA-BR 5 37524182 37524182 single base substitution C T intron_variant SKCA-BR 5 37524471 37524471 single base substitution C T intron_variant SKCA-BR 5 37526145 37526145 single base substitution C T intron_variant SKCA-BR 5 37530991 37530991 single base substitution A G intron_variant SKCA-BR 5 37531689 37531689 single base substitution C T intron_variant SKCA-BR 5 37531692 37531692 insertion of <=200bp - TTTC intron_variant SKCA-BR 5 37531695 37531695 single base substitution T C intron_variant SKCA-BR 5 37532752 37532752 single base substitution T C intron_variant SKCA-BR 5 37533715 37533715 single base substitution A G intron_variant SKCA-BR 5 37533758 37533758 single base substitution C T intron_variant SKCA-BR 5 37534973 37534973 single base substitution G A intron_variant SKCA-BR 5 37537043 37537043 single base substitution C T intron_variant SKCA-BR 5 37538526 37538526 single base substitution A G intron_variant SKCA-BR 5 37539214 37539214 single base substitution G A intron_variant SKCA-BR 5 37542536 37542536 single base substitution C T intron_variant SKCA-BR 5 37544104 37544104 single base substitution C A intron_variant SKCA-BR 5 37548397 37548397 single base substitution C T intron_variant SKCA-BR 5 37549274 37549274 single base substitution G A intron_variant SKCA-BR 5 37552916 37552916 single base substitution C T intron_variant SKCA-BR 5 37552917 37552917 single base substitution C T intron_variant SKCA-BR 5 37554543 37554543 single base substitution G A intron_variant SKCA-BR 5 37555813 37555823 deletion of <=200bp TTTTTGTTTTG - intron_variant SKCA-BR 5 37558016 37558016 single base substitution A T intron_variant SKCA-BR 5 37558043 37558043 single base substitution T A intron_variant SKCA-BR 5 37560911 37560911 insertion of <=200bp - ATT intron_variant SKCA-BR 5 37560916 37560916 insertion of <=200bp - TTA intron_variant SKCA-BR 5 37563179 37563179 single base substitution C A intron_variant SKCA-BR 5 37563760 37563762 deletion of <=200bp ACC - intron_variant SKCA-BR 5 37563951 37563951 single base substitution T C intron_variant SKCA-BR 5 37564521 37564521 single base substitution G C intron_variant SKCA-BR 5 37566224 37566224 single base substitution C T intron_variant SKCA-BR 5 37567851 37567851 single base substitution T G intron_variant SKCA-BR 5 37572672 37572672 single base substitution C T intron_variant SKCA-BR 5 37573633 37573633 single base substitution T C intron_variant SKCA-BR 5 37575808 37575808 single base substitution C T intron_variant SKCA-BR 5 37577295 37577295 single base substitution C T intron_variant SKCA-BR 5 37579728 37579728 single base substitution C A intron_variant SKCA-BR 5 37580818 37580818 single base substitution C A intron_variant SKCA-BR 5 37583895 37583895 single base substitution C T intron_variant SKCA-BR 5 37583924 37583924 single base substitution C T intron_variant SKCA-BR 5 37584958 37584958 single base substitution C T intron_variant SKCA-BR 5 37585748 37585748 single base substitution C T intron_variant SKCA-BR 5 37590005 37590005 single base substitution C T intron_variant SKCA-BR 5 37590790 37590790 single base substitution C T intron_variant SKCA-BR 5 37591366 37591366 single base substitution T G intron_variant SKCA-BR 5 37597379 37597379 single base substitution C T intron_variant SKCA-BR 5 37599688 37599688 single base substitution C T intron_variant SKCA-BR 5 37599689 37599689 single base substitution C T intron_variant SKCA-BR 5 37603222 37603222 single base substitution C A intron_variant SKCA-BR 5 37608058 37608058 single base substitution A C intron_variant SKCA-BR 5 37608431 37608431 single base substitution C T intron_variant SKCA-BR 5 37608867 37608867 single base substitution C T intron_variant SKCA-BR 5 37609979 37609979 single base substitution G A intron_variant SKCA-BR 5 37611899 37611899 single base substitution A T intron_variant SKCA-BR 5 37616505 37616505 single base substitution C A intron_variant SKCA-BR 5 37620308 37620308 single base substitution T G intron_variant SKCA-BR 5 37620717 37620717 single base substitution C T intron_variant SKCA-BR 5 37622959 37622959 single base substitution G A intron_variant SKCA-BR 5 37622960 37622960 single base substitution T A intron_variant SKCA-BR 5 37624491 37624491 single base substitution C G intron_variant SKCA-BR 5 37626106 37626106 insertion of <=200bp - GTT intron_variant SKCA-BR 5 37628979 37628979 single base substitution A T intron_variant SKCA-BR 5 37629837 37629837 single base substitution C T intron_variant SKCA-BR 5 37629991 37629991 single base substitution C T intron_variant SKCA-BR 5 37631619 37631619 single base substitution T C intron_variant SKCA-BR 5 37633649 37633649 single base substitution T C intron_variant SKCA-BR 5 37634667 37634667 single base substitution A G intron_variant SKCA-BR 5 37635121 37635121 single base substitution A G intron_variant SKCA-BR 5 37635195 37635195 single base substitution C T intron_variant SKCA-BR 5 37641321 37641321 single base substitution G A intron_variant SKCA-BR 5 37643419 37643419 single base substitution T C intron_variant SKCA-BR 5 37646349 37646349 single base substitution A G intron_variant SKCA-BR 5 37649838 37649838 single base substitution T C intron_variant SKCA-BR 5 37650091 37650130 deletion of <=200bp TGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGC - intron_variant SKCA-BR 5 37652751 37652751 single base substitution C T intron_variant SKCA-BR 5 37656365 37656365 single base substitution C T intron_variant SKCA-BR 5 37656898 37656898 single base substitution G C intron_variant SKCA-BR 5 37658353 37658353 single base substitution G C intron_variant SKCA-BR 5 37661342 37661342 single base substitution T G intron_variant SKCA-BR 5 37662765 37662765 single base substitution C T intron_variant SKCA-BR 5 37663650 37663650 single base substitution C T intron_variant SKCA-BR 5 37665479 37665479 single base substitution C T intron_variant SKCA-BR 5 37666433 37666433 single base substitution G A intron_variant SKCA-BR 5 37667170 37667170 single base substitution T C intron_variant SKCA-BR 5 37668405 37668405 single base substitution A G intron_variant SKCA-BR 5 37669503 37669503 single base substitution A T intron_variant SKCA-BR 5 37670362 37670362 single base substitution C T intron_variant SKCA-BR 5 37670974 37670974 single base substitution A G intron_variant SKCA-BR 5 37671962 37671962 single base substitution C T intron_variant SKCA-BR 5 37673074 37673074 single base substitution T G intron_variant SKCA-BR 5 37675834 37675834 single base substitution C T intron_variant SKCA-BR 5 37677276 37677276 single base substitution T C intron_variant SKCA-BR 5 37678221 37678221 single base substitution A G intron_variant SKCA-BR 5 37679449 37679449 single base substitution C T intron_variant SKCA-BR 5 37679625 37679625 single base substitution G A intron_variant SKCA-BR 5 37680051 37680051 single base substitution T C intron_variant SKCA-BR 5 37680057 37680057 single base substitution A C intron_variant SKCA-BR 5 37680063 37680063 single base substitution A G intron_variant SKCA-BR 5 37685319 37685319 single base substitution T G intron_variant SKCA-BR 5 37687714 37687714 single base substitution C T intron_variant SKCA-BR 5 37691539 37691539 single base substitution C T intron_variant SKCA-BR 5 37692856 37692856 single base substitution A G intron_variant SKCA-BR 5 37693716 37693716 single base substitution C T intron_variant SKCA-BR 5 37695889 37695889 single base substitution T A intron_variant SKCA-BR 5 37697863 37697863 single base substitution T A 3_prime_UTR_variant SKCA-BR 5 37697863 37697863 single base substitution T A splice_region_variant SKCA-BR 5 37699798 37699798 single base substitution C T downstream_gene_variant SKCA-BR 5 37699798 37699798 single base substitution C T intron_variant SKCA-BR 5 37701184 37701184 single base substitution A G downstream_gene_variant SKCA-BR 5 37701184 37701184 single base substitution A G exon_variant SKCA-BR 5 37701184 37701184 single base substitution A G missense_variant D406G 1217A>G SKCA-BR 5 37702543 37702543 single base substitution C T downstream_gene_variant SKCA-BR 5 37702543 37702543 single base substitution C T intron_variant SKCA-BR 5 37705557 37705557 single base substitution A G downstream_gene_variant SKCA-BR 5 37705557 37705557 single base substitution A G intron_variant SKCA-BR 5 37706839 37706839 insertion of <=200bp - ACACACACG downstream_gene_variant SKCA-BR 5 37706839 37706839 insertion of <=200bp - ACACACACG intron_variant SKCA-BR 5 37707488 37707488 single base substitution C T downstream_gene_variant SKCA-BR 5 37707488 37707488 single base substitution C T intron_variant SKCA-BR 5 37716961 37716961 single base substitution C T intron_variant SKCA-BR 5 37720096 37720096 single base substitution C T intron_variant SKCA-BR 5 37720096 37720096 single base substitution C T upstream_gene_variant SKCA-BR 5 37725508 37725527 deletion of <=200bp GGGCACTTTGACCAGAATCC - intron_variant SKCA-BR 5 37728566 37728566 single base substitution C T intron_variant SKCA-BR 5 37730159 37730159 single base substitution T C intron_variant SKCA-BR 5 37735289 37735289 single base substitution C T intron_variant SKCA-BR 5 37743450 37743450 single base substitution C T intron_variant SKCA-BR 5 37745406 37745406 single base substitution A C intron_variant SKCA-BR 5 37746994 37746994 single base substitution G A intron_variant SKCA-BR 5 37749353 37749353 single base substitution C T intron_variant SKCA-BR 5 37750224 37750224 single base substitution C T intron_variant SKCA-BR 5 37755147 37755147 single base substitution C T downstream_gene_variant SKCA-BR 5 37757991 37757992 deletion of <=200bp AT - downstream_gene_variant SKCM-US 5 37381772 37381772 single base substitution A C exon_variant SKCM-US 5 37381772 37381772 single base substitution A C missense_variant S54R 160A>C SKCM-US 5 37396570 37396570 single base substitution A C exon_variant SKCM-US 5 37396570 37396570 single base substitution A C synonymous_variant P130P 390A>C SKCM-US 5 37396594 37396594 single base substitution C T exon_variant SKCM-US 5 37396594 37396594 single base substitution C T synonymous_variant I138I 414C>T SKCM-US 5 37396597 37396597 single base substitution C T exon_variant SKCM-US 5 37396597 37396597 single base substitution C T synonymous_variant L139L 417C>T SKCM-US 5 37516634 37516634 single base substitution C T exon_variant SKCM-US 5 37516634 37516634 single base substitution C T missense_variant H287Y 859C>T SKCM-US 5 37725129 37725129 single base substitution C T exon_variant SKCM-US 5 37725129 37725129 single base substitution C T missense_variant P564L 1691C>T SKCM-US 5 37725136 37725136 single base substitution T A exon_variant SKCM-US 5 37725136 37725136 single base substitution T A synonymous_variant P566P 1698T>A SKCM-US 5 37725138 37725138 single base substitution C T exon_variant SKCM-US 5 37725138 37725138 single base substitution C T missense_variant P567L 1700C>T STAD-US 5 37381716 37381716 single base substitution G A exon_variant STAD-US 5 37381716 37381716 single base substitution G A missense_variant R35H 104G>A STAD-US 5 37516665 37516665 single base substitution G A exon_variant STAD-US 5 37516665 37516665 single base substitution G A missense_variant G297E 890G>A STAD-US 5 37605339 37605339 single base substitution C A missense_variant T364N 1091C>A STAD-US 5 37605339 37605339 single base substitution C A splice_region_variant STAD-US 5 37697794 37697794 single base substitution C T 3_prime_UTR_variant STAD-US 5 37697794 37697794 single base substitution C T exon_variant STAD-US 5 37697794 37697794 single base substitution C T missense_variant S377L 1130C>T STAD-US 5 37701208 37701208 insertion of <=200bp - T downstream_gene_variant STAD-US 5 37701208 37701208 insertion of <=200bp - T exon_variant STAD-US 5 37701208 37701208 insertion of <=200bp - T frameshift_variant L414L? STAD-US 5 37703147 37703147 single base substitution T C downstream_gene_variant STAD-US 5 37703147 37703147 single base substitution T C exon_variant STAD-US 5 37703147 37703147 single base substitution T C synonymous_variant R458R 1374T>C STAD-US 5 37721216 37721216 single base substitution G A splice_acceptor_variant STAD-US 5 37721216 37721216 single base substitution G A upstream_gene_variant STAD-US 5 37727018 37727019 deletion of <=200bp CT - exon_variant STAD-US 5 37727018 37727019 deletion of <=200bp CT - frameshift_variant T583 STAD-US 5 37727132 37727132 single base substitution C T exon_variant STAD-US 5 37727132 37727132 single base substitution C T missense_variant S621F 1862C>T THCA-SA 5 37721219 37721219 single base substitution T C splice_region_variant THCA-SA 5 37721219 37721219 single base substitution T C upstream_gene_variant UCEC-US 5 37392140 37392140 single base substitution G T exon_variant UCEC-US 5 37392140 37392140 single base substitution G T stop_gained E72* 214G>T UCEC-US 5 37396643 37396645 deletion of <=200bp GAA - exon_variant UCEC-US 5 37396643 37396645 deletion of <=200bp GAA - inframe_deletion E155 UCEC-US 5 37480045 37480045 single base substitution T C exon_variant UCEC-US 5 37480045 37480045 single base substitution T C missense_variant C266R 796T>C UCEC-US 5 37516670 37516670 single base substitution T C exon_variant UCEC-US 5 37516670 37516670 single base substitution T C missense_variant F299L 895T>C UCEC-US 5 37516692 37516692 single base substitution C T missense_variant A306V 917C>T UCEC-US 5 37516692 37516692 single base substitution C T splice_region_variant UCEC-US 5 37605190 37605190 single base substitution A C exon_variant UCEC-US 5 37605190 37605190 single base substitution A C missense_variant E314D 942A>C UCEC-US 5 37605199 37605199 single base substitution G T exon_variant UCEC-US 5 37605199 37605199 single base substitution G T missense_variant K317N 951G>T UCEC-US 5 37605273 37605273 single base substitution G A exon_variant UCEC-US 5 37605273 37605273 single base substitution G A missense_variant R342K 1025G>A UCEC-US 5 37722992 37722992 single base substitution A C exon_variant UCEC-US 5 37722992 37722992 single base substitution A C missense_variant K518T 1553A>C UCEC-US 5 37722992 37722992 single base substitution A C upstream_gene_variant UCEC-US 5 37727060 37727060 single base substitution C T exon_variant UCEC-US 5 37727060 37727060 single base substitution C T missense_variant T597I 1790C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T578 COSM4741060 c.1426C>T p.R476C Substitution - Missense 5:37721124-37721124 + ZZUFHECRKL-G004T COSM5430967 c.1707A>T p.A569A Substitution - coding silent 5:37725043-37725043 + TCGA-BG-A0M4-01 COSM1067849 c.1597C>T p.P533S Substitution - Missense 5:37722934-37722934 + TCGA-G7-6795-01 COSM3994307 c.114C>T p.D38D Substitution - coding silent 5:37381624-37381624 + S00050 COSM318289 c.552A>C p.T184T Substitution - coding silent 5:37437981-37437981 + TCGA-33-4583-01 COSM737859 c.977G>T p.R326L Substitution - Missense 5:37605123-37605123 + TCGA-D9-A6EC-06 COSM4402903 c.160A>C p.S54R Substitution - Missense 5:37381670-37381670 + PCSI_0090_Pa_X COSM3381260 c.1320T>C p.T440T Substitution - coding silent 5:37702991-37702991 + 2492720 COSM5720319 c.1160C>T p.S387F Substitution - Missense 5:37697722-37697722 + PD7210a COSM5801038 c.1825_1826insC p.H609fs*29 Insertion - Frameshift 5:37726993-37726994 + TCGA-AO-A03M-01 COSM3828041 c.90C>T p.F30F Substitution - coding silent 5:37379553-37379553 + YUPAER COSM5403427 c.1567G>A p.E523K Substitution - Missense 5:37722904-37722904 + PT35 COSM5912362 c.797G>T p.C266F Substitution - Missense 5:37479944-37479944 + Br27P COSM40765 c.463G>A p.E155K Substitution - Missense 5:37396541-37396541 + TCGA-AA-3713-01 COSM1270425 c.1175T>C p.V392A Substitution - Missense 5:37697737-37697737 + LN229 COSM5712312 c.1150G>A p.V384M Substitution - Missense 5:37697712-37697712 + CCK81 COSM2688694 c.1948delA p.K651fs*>4 Deletion - Frameshift 5:37752556-37752556 + PCSI_0090_Pa_P COSM3381261 c.1468A>G p.T490A Substitution - Missense 5:37721166-37721166 + TCGA-AP-A054-01 COSM1067838 c.796T>C p.C266R Substitution - Missense 5:37479943-37479943 + TCGA-AZ-4615-01 COSM3697235 c.1883A>G p.Q628R Substitution - Missense 5:37752491-37752491 + TCGA-EE-A181-06 COSM3616023 c.390A>C p.P130P Substitution - coding silent 5:37396468-37396468 + SNU-C2B COSM171152 c.1740C>T p.H580H Substitution - coding silent 5:37726908-37726908 + XHDG30 COSM4769291 c.1932G>C p.K644N Substitution - Missense 5:37752540-37752540 + TCGA-39-5030-01 COSM737863 c.268G>A p.V90I Substitution - Missense 5:37392092-37392092 + ICC009T COSM5823593 c.418G>T p.G140C Substitution - Missense 5:37396496-37396496 + BZ28 COSM5758807 c.214G>C p.E72Q Substitution - Missense 5:37392038-37392038 + J30_T COSM3947493 c.486A>G p.E162E Substitution - coding silent 5:37396564-37396564 + 8030020 COSM1169047 c.654T>G p.F218L Substitution - Missense 5:37443340-37443340 + TCGA-D9-A4Z3-01 COSM3616024 c.414C>T p.I138I Substitution - coding silent 5:37396492-37396492 + LUAD_E00522 COSM353372 c.1874C>A p.S625Y Substitution - Missense 5:37727042-37727042 + Pat_41_B COSM5868482 c.520C>T p.H174Y Substitution - Missense 5:37437949-37437949 + I2L-P10-Tumor-Organoid COSM5356421 c.724G>T p.D242Y Substitution - Missense 5:37479871-37479871 + 39 COSM4777715 c.633_634insT p.A212fs*8 Insertion - Frameshift 5:37443319-37443320 + TCGA-AZ-4615-01 COSM5139778 c.185delA p.E64fs*4 Deletion - Frameshift 5:37392009-37392009 + B81-1-Tumor COSM1754263 c.262A>T p.N88Y Substitution - Missense 5:37392086-37392086 + LUAD-NYU1210 COSM369679 c.840+1G>T p.? Unknown 5:37479988-37479988 + 1920_T COSM3947494 c.1682C>A p.S561* Substitution - Nonsense 5:37725018-37725018 + ESCC-D8 COSM5046483 c.434C>T p.P145L Substitution - Missense 5:37396512-37396512 + S00050 COSM318289 c.552A>C p.T184T Substitution - coding silent 5:37437981-37437981 + TCGA-60-2698-01 COSM737857 c.1571C>T p.T524I Substitution - Missense 5:37722908-37722908 + TCGA-D1-A167-01 COSM186970 c.917C>T p.A306V Substitution - Missense 5:37516590-37516590 + TCGA-DA-A1HV-06 COSM3616028 c.1700C>T p.P567L Substitution - Missense 5:37725036-37725036 + 1604875 COSM141104 c.290C>T p.S97F Substitution - Missense 5:37392114-37392114 + TCGA-BR-6452-01 COSM3855109 c.1091C>A p.T364N Substitution - Missense 5:37605237-37605237 + TCGA-AP-A059-01 COSM1067850 c.1790C>T p.T597I Substitution - Missense 5:37726958-37726958 + TCGA-A8-A0A6-01 COSM3828042 c.1239A>C p.P413P Substitution - coding silent 5:37701104-37701104 + TCGA-GC-A3WC-01 COSM3776681 c.35C>T p.S12L Substitution - Missense 5:37379498-37379498 + TCGA-CA-6717-01 COSM1437391 c.6G>A p.E2E Substitution - coding silent 5:37379373-37379373 + PCSI_0305_Pa_P_526 COSM3787057 c.1518-6C>T p.? Unknown 5:37722849-37722849 + 8067800 COSM1169047 c.654T>G p.F218L Substitution - Missense 5:37443340-37443340 + 081T COSM1730854 c.809A>C p.D270A Substitution - Missense 5:37479956-37479956 + BZ28 COSM2688654 c.182G>C p.R61T Substitution - Missense 5:37392006-37392006 + TCGA-AP-A0LM-01 COSM1067842 c.1025G>A p.R342K Substitution - Missense 5:37605171-37605171 + TCGA-24-1545-01 COSM117752 c.1295G>C p.S432T Substitution - Missense 5:37702966-37702966 + NB-1204 COSM1288947 c.665G>A p.R222Q Substitution - Missense 5:37443351-37443351 + TCGA-EE-A29D-06 COSM3616025 c.859C>T p.H287Y Substitution - Missense 5:37516532-37516532 + TCGA-K4-A3WU-01 COSM3776683 c.1808G>A p.R603Q Substitution - Missense 5:37726976-37726976 + BRC15 COSM5026284 c.1549C>T p.R517W Substitution - Missense 5:37722886-37722886 + 2492722 COSM5720319 c.1160C>T p.S387F Substitution - Missense 5:37697722-37697722 + ESCC-F84 COSM5048811 c.409G>A p.D137N Substitution - Missense 5:37396487-37396487 + TCGA-BS-A0UJ-01 COSM1067847 c.1553A>C p.K518T Substitution - Missense 5:37722890-37722890 + LUAD-VUMN6 COSM392605 c.1214delG p.D406fs*21 Deletion - Frameshift 5:37701079-37701079 + 1009 COSM5730688 c.1742G>C p.G581A Substitution - Missense 5:37726910-37726910 + TCGA-EI-6883-01 COSM3429430 c.602G>A p.G201E Substitution - Missense 5:37443288-37443288 + LIM2551 COSM4644674 c.1605C>A p.A535A Substitution - coding silent 5:37724941-37724941 + 2492721 COSM5720319 c.1160C>T p.S387F Substitution - Missense 5:37697722-37697722 + TCGA-AA-3966-01 COSM273472 c.1196A>G p.D399G Substitution - Missense 5:37701061-37701061 + 2_RESISTANT COSM1722951 c.978G>A p.R326R Substitution - coding silent 5:37605124-37605124 + TCGA-B5-A11E-01 COSM1067839 c.895T>C p.F299L Substitution - Missense 5:37516568-37516568 + 126T COSM1725625 c.183A>C p.R61S Substitution - Missense 5:37392007-37392007 + TCGA-JW-A69B-01 COSM4829606 c.296+1G>T p.? Unknown 5:37392121-37392121 + S02277 COSM392605 c.1214delG p.D406fs*21 Deletion - Frameshift 5:37701079-37701079 + 2_PRE-TREATMENT COSM1722951 c.978G>A p.R326R Substitution - coding silent 5:37605124-37605124 + TCGA-BR-8487-01 COSM3855111 c.1130C>T p.S377L Substitution - Missense 5:37697692-37697692 + TCGA-CM-6171-01 COSM1437393 c.990_991insA p.V333fs*9 Insertion - Frameshift 5:37605136-37605137 + ESO-539 COSM1270424 c.360T>A p.P120P Substitution - coding silent 5:37396438-37396438 + TCGA-02-2470-01 COSM2149116 c.816T>G p.Y272* Substitution - Nonsense 5:37479963-37479963 + TCGA-CF-A1HR-01 COSM420707 c.1311C>G p.L437L Substitution - coding silent 5:37702982-37702982 + ESO-805 COSM1270425 c.1175T>C p.V392A Substitution - Missense 5:37697737-37697737 + ESO-0133 COSM1270423 c.1237C>T p.P413S Substitution - Missense 5:37701102-37701102 + ESCC_167 COSM5648636 c.12T>C p.S4S Substitution - coding silent 5:37379379-37379379 + CPCG0103-P8 COSM3396601 c.458C>A p.A153E Substitution - Missense 5:37396536-37396536 + CSCC-15-T COSM4500900 c.575C>T p.P192L Substitution - Missense 5:37443261-37443261 + LUAD-S01302 COSM396142 c.1786A>G p.K596E Substitution - Missense 5:37726954-37726954 + TCGA-FS-A4FD-06 COSM3920005 c.417C>T p.L139L Substitution - coding silent 5:37396495-37396495 + TCGA-22-5472-01 COSM737861 c.583G>T p.A195S Substitution - Missense 5:37443269-37443269 + TCGA-AA-3672-01 COSM267759 c.991delA p.V333fs*15 Deletion - Frameshift 5:37605137-37605137 + TCGA-E2-A14Z-01 COSM449616 c.981G>A p.T327T Substitution - coding silent 5:37605127-37605127 + TCGA-13-2060-01 COSM73287 c.761A>T p.K254M Substitution - Missense 5:37479908-37479908 + XHDG38 COSM4769291 c.1932G>C p.K644N Substitution - Missense 5:37752540-37752540 + YUAVEY COSM1695642 c.1247C>T p.S416L Substitution - Missense 5:37701112-37701112 + TCGA-F5-6814-01 COSM3429431 c.940G>T p.E314* Substitution - Nonsense 5:37605086-37605086 + tumor_4163639 COSM1161543 c.329C>T p.S110F Substitution - Missense 5:37396407-37396407 + LUAD-UF7HM COSM347761 c.1150G>C p.V384L Substitution - Missense 5:37697712-37697712 + TCGA-B5-A0K6-01 COSM1067843 c.1052G>A p.C351Y Substitution - Missense 5:37605198-37605198 + 2492723 COSM5720319 c.1160C>T p.S387F Substitution - Missense 5:37697722-37697722 + I-01 COSM4767008 c.73A>G p.M25V Substitution - Missense 5:37379536-37379536 + HCC129T COSM5817092 c.1857G>A p.W619* Substitution - Nonsense 5:37727025-37727025 + ccRCC-1 COSM1665006 c.446A>T p.E149V Substitution - Missense 5:37396524-37396524 + SNU-175 COSM2688686 c.1617C>T p.F539F Substitution - coding silent 5:37724953-37724953 + TCGA-CZ-4859-01 COSM482799 c.3G>A p.M1I Substitution - Missense 5:37379370-37379370 + ATL058 COSM2688668 c.917+1G>T p.? Unknown 5:37516591-37516591 + TCGA-D1-A16S-01 COSM1067846 c.1498G>A p.D500N Substitution - Missense 5:37721196-37721196 + LUAD-B00416 COSM331465 c.25G>T p.V9L Substitution - Missense 5:37379392-37379392 + RK149_C01 COSM3744858 c.1518-10C>A p.? Unknown 5:37722845-37722845 + 392 COSM4428294 c.784G>C p.E262Q Substitution - Missense 5:37479931-37479931 + B81-1 COSM1754263 c.262A>T p.N88Y Substitution - Missense 5:37392086-37392086 + TARGET-30-PASTKC COSM1288948 c.1030G>T p.G344* Substitution - Nonsense 5:37605176-37605176 + TCGA-CC-A7IH-01 COSM4924334 c.1461G>A p.M487I Substitution - Missense 5:37721159-37721159 + cSCCP4 COSM138479 c.988G>A p.G330S Substitution - Missense 5:37605134-37605134 + LUAD-LC15C COSM341979 c.1337G>T p.R446I Substitution - Missense 5:37703008-37703008 + TCGA-FS-A1ZP-06 COSM3616026 c.1691C>T p.P564L Substitution - Missense 5:37725027-37725027 + RK106_C01 COSM1634219 c.1750delC p.L584fs*6 Deletion - Frameshift 5:37726918-37726918 + DLD1 COSM4625552 c.1522G>T p.A508S Substitution - Missense 5:37722859-37722859 + TCGA-HU-A4H4-01 COSM3855108 c.890G>A p.G297E Substitution - Missense 5:37516563-37516563 + TCGA-B5-A0JY-01 COSM1067841 c.951G>T p.K317N Substitution - Missense 5:37605097-37605097 + YUROC COSM5403428 c.1727G>A p.R576Q Substitution - Missense 5:37726895-37726895 + HCT15 COSM2688683 c.1421T>C p.V474A Substitution - Missense 5:37721119-37721119 + TCGA-AP-A0LI-01 COSM1067837 c.578C>T p.S193L Substitution - Missense 5:37443264-37443264 + ESCC_73 COSM5634585 c.722G>C p.G241A Substitution - Missense 5:37479869-37479869 + 220 COSM4425255 c.738T>C p.V246V Substitution - coding silent 5:37479885-37479885 + TCGA-D1-A16G-01 COSM1067848 c.1562A>G p.Q521R Substitution - Missense 5:37722899-37722899 + TCGA-18-4721-01 COSM737860 c.929C>A p.T310K Substitution - Missense 5:37605075-37605075 + 529 COSM5612291 c.338C>T p.S113F Substitution - Missense 5:37396416-37396416 + LUAD-QJN9L COSM342729 c.297-1G>T p.? Unknown 5:37396374-37396374 + YUPROST COSM1695641 c.109T>A p.F37I Substitution - Missense 5:37381619-37381619 + 2492704 COSM5716799 c.1791C>T p.T597T Substitution - coding silent 5:37726959-37726959 + TCGA-D1-A17Q-01 COSM1067840 c.942A>C p.E314D Substitution - Missense 5:37605088-37605088 + TCGA-GC-A3RC-01 COSM3776682 c.75G>A p.M25I Substitution - Missense 5:37379538-37379538 + RK131_C01 COSM3702810 c.131A>G p.E44G Substitution - Missense 5:37381641-37381641 + TCGA-CG-5721-01 COSM3855112 c.1374T>C p.R458R Substitution - coding silent 5:37703045-37703045 + BD156T COSM5494581 c.1943A>T p.E648V Substitution - Missense 5:37752551-37752551 + TCGA-B4-5377-01 COSM482800 c.1521A>G p.G507G Substitution - coding silent 5:37722858-37722858 + TCGA-02-2470 COSM2149116 c.816T>G p.Y272* Substitution - Nonsense 5:37479963-37479963 + TCGA-A5-A0GW-01 COSM1067836 c.463_465delGAA p.E164delE Deletion - In frame 5:37396541-37396543 + HCC108T COSM1620290 c.815A>G p.Y272C Substitution - Missense 5:37479962-37479962 + PD24216a COSM5758807 c.214G>C p.E72Q Substitution - Missense 5:37392038-37392038 + TCGA-DA-A1HV-06 COSM3616027 c.1698T>A p.P566P Substitution - coding silent 5:37725034-37725034 + BD57T COSM5510058 c.1741G>A p.G581R Substitution - Missense 5:37726909-37726909 + TCGA-BT-A20T-01 COSM420708 c.1003C>T p.P335S Substitution - Missense 5:37605149-37605149 + TCGA-HU-A4G3-01 COSM3855107 c.104G>A p.R35H Substitution - Missense 5:37381614-37381614 + TCGA-BR-8680-01 COSM3855114 c.1862C>T p.S621F Substitution - Missense 5:37727030-37727030 + HCC108 COSM1620290 c.815A>G p.Y272C Substitution - Missense 5:37479962-37479962 + CSCC-29-T COSM4474070 c.1892C>T p.T631I Substitution - Missense 5:37752500-37752500 + STC291 COSM5061076 c.1823G>A p.R608H Substitution - Missense 5:37726991-37726991 + TCGA-BS-A0UV-01 COSM1067835 c.214G>T p.E72* Substitution - Nonsense 5:37392038-37392038 + CSCC-30-T COSM737857 c.1571C>T p.T524I Substitution - Missense 5:37722908-37722908 + 8061176 COSM3393553 c.1465G>A p.G489R Substitution - Missense 5:37721163-37721163 + TCGA-A6-5665-01 COSM1437394 c.1222C>T p.R408* Substitution - Nonsense 5:37701087-37701087 + TCGA-CD-A4MG-01 COSM3855113 c.1417-1G>A p.? Unknown 5:37721114-37721114 + 2293776 COSM4607906 c.1483G>T p.A495S Substitution - Missense 5:37721181-37721181 + LC_C26 COSM1186755 c.1249G>A p.A417T Substitution - Missense 5:37701114-37701114 + PT48 COSM5931786 c.1193-7C>T p.? Unknown 5:37701051-37701051 + AOCS-055-1-7 COSM4141800 c.1056G>T p.Q352H Substitution - Missense 5:37605202-37605202 + CRC-19T COSM5481978 c.1141A>G p.T381A Substitution - Missense 5:37697703-37697703 + TCGA-HC-8259-01 COSM4392759 c.4G>T p.E2* Substitution - Nonsense 5:37379371-37379371 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.213690 5p13.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P130P c.390A>C 5 37396570 CM A C Synonymous p.T184T c.552A>C 5 37438083 SCLC ACTT - IntronicDeletion . c.686+16_686+19delCTTA 5 37443485 STAD A G IntronicSNV . c.686+5229A>G 5 37448703 CLL A G Missense p.K553R c.1658A>G 5 37725096 HNSC A T IntronicSNV . c.1877+10426A>T 5 37737573 CLL A T Missense p.E81V c.242A>T 5 37392168 LUAD A T Missense p.K254M c.761A>T 5 37480010 OV A T Missense p.T339S c.1015A>T 5 37605263 HNSC C A Missense p.T310K c.929C>A 5 37605177 LUSC - CCTTACTT IntronicInsertion . c.918-29021_918-29020insCCTTACTT 5 37576145 CLL CC TT IntronicBlockSubstitution . c.841-10726_841-10725delinsTT 5 37505890 CM C - Frameshift p.L584Sfs*6 c.1749delT 5 37727019 HC C G Missense p.I469M c.1407C>G 5 37703180 LUAD C G Missense p.S585C c.1754C>G 5 37727024 LUAD C G Synonymous p.L437L c.1311C>G 5 37703084 BLCA C T Missense p.P335S c.1003C>T 5 37605251 BLCA C T Missense p.P413S c.1237C>T 5 37701204 ESCA C T Missense p.P564L c.1691C>T 5 37725129 CM C T Missense p.P567L c.1700C>T 5 37725138 CM C T Missense p.P622S c.1864C>T 5 37727134 HNSC C T Missense p.R517W c.1549C>T 5 37722988 BRCA C T Missense p.S110F c.329C>T 5 37396509 DLBCL C T Nonsense p.Q231* c.691C>T 5 37479940 HNSC C T Nonsense p.R222* c.664C>T 5 37443452 CM C T Synonymous p.T631T c.1893C>T 5 37752603 CM GAA - InFrameDeletion p.E164delE c.471_473delAGA 5 37396643 UCEC G A Missense p.E155K c.463G>A 5 37396643 GBM G A Missense p.E8K c.22G>A 5 37379491 HNSC G A Missense p.M1I c.3G>A 5 37379472 RCCC G A Missense p.R222Q c.665G>A 5 37443453 NB G A Missense p.V90I c.268G>A 5 37392194 LUSC G A Synonymous p.K254K c.762G>A 5 37480011 HNSC G A Synonymous p.Q352Q c.1056G>A 5 37605304 HNSC G A Synonymous p.T327T c.981G>A 5 37605229 BRCA G C IntronicSNV . c.1416+5258G>C 5 37708447 CLL G C Missense p.D257H c.769G>C 5 37480018 LUAD G C Missense p.S432T c.1295G>C 5 37703068 OV G T IntronicSNV . c.686+53G>T 5 37443527 STAD G T Missense p.A195S c.583G>T 5 37443371 LUSC G T Missense p.R326L c.977G>T 5 37605225 LUSC G T Nonsense p.E2* c.4G>T 5 37379473 PRAD G T Nonsense p.G269* c.805G>T 5 37480054 STAD G T Nonsense p.G344* c.1030G>T 5 37605278 NB G T SpliceDonorSNV . c.1192+1G>T 5 37697857 CM G T SpliceDonorSNV . c.175+1G>T 5 37381788 LUAD T A IntronicSNV . c.1093-45931T>A 5 37651826 CLL T A Synonymous p.P120P c.360T>A 5 37396540 ESCA T A Synonymous p.P566P c.1698T>A 5 37725136 CM T C Missense p.C266R c.796T>C 5 37480045 UCEC T C Missense p.V274A c.821T>C 5 37480070 HNSC T C Missense p.V392A c.1175T>C 5 37697839 ESCA T G Nonsense p.Y272* c.816T>G 5 37480065 GBM