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 ACC 23 19587243 19587243 + Silent SNP G G A TCGA-OR-A5J6-01A-31D-A29I-10 TCGA-OR-A5J6-10A-01D-A29L-10 g.chrX:19587243G>A c.1362C>T c.(1360-1362)ctC>ctT p.L454L BLCA 23 19554542 19554542 + Nonsense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chrX:19554542G>C c.1991C>G c.(1990-1992)tCa>tGa p.S664* BLCA 23 19560282 19560282 + Silent SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chrX:19560282G>T c.1653C>A c.(1651-1653)ccC>ccA p.P551P BLCA 23 19560286 19560286 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chrX:19560286G>A c.1649C>T c.(1648-1650)cCg>cTg p.P550L BLCA 23 19587227 19587227 + Missense_Mutation SNP C C T TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chrX:19587227C>T c.1378G>A c.(1378-1380)Gac>Aac p.D460N BLCA 23 19606875 19606875 + Missense_Mutation SNP A A G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chrX:19606875A>G c.1184T>C c.(1183-1185)gTt>gCt p.V395A BLCA 23 19701995 19701995 + Missense_Mutation SNP G G C TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chrX:19701995G>C c.672C>G c.(670-672)atC>atG p.I224M BLCA 23 19702051 19702051 + Missense_Mutation SNP G G T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 g.chrX:19702051G>T c.616C>A c.(616-618)Cag>Aag p.Q206K BLCA 23 19713821 19713821 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chrX:19713821C>G c.429G>C c.(427-429)aaG>aaC p.K143N BLCA 23 19764438 19764438 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chrX:19764438C>G c.284G>C c.(283-285)aGa>aCa p.R95T BLCA 23 19764521 19764521 + Silent SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chrX:19764521G>A c.201C>T c.(199-201)aaC>aaT p.N67N BLCA 23 19854267 19854267 + Silent SNP A A C TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 g.chrX:19854267A>C c.138T>G c.(136-138)ggT>ggG p.G46G BRCA 23 19560229 19560229 + Missense_Mutation SNP G G A TCGA-D8-A1XR-01A-11D-A14K-09 TCGA-D8-A1XR-10A-01D-A14K-09 g.chrX:19560229G>A c.1706C>T c.(1705-1707)gCg>gTg p.A569V BRCA 23 19564084 19564084 + Missense_Mutation SNP C C T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chrX:19564084C>T c.1579G>A c.(1579-1581)Gtg>Atg p.V527M BRCA 23 19568118 19568118 + Missense_Mutation SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 g.chrX:19568118G>A c.1468C>T c.(1468-1470)Cgg>Tgg p.R490W BRCA 23 19606866 19606866 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chrX:19606866A>G c.1193T>C c.(1192-1194)aTa>aCa p.I398T BRCA 23 19701973 19701973 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chrX:19701973C>T c.694G>A c.(694-696)Gaa>Aaa p.E232K BRCA 23 19702029 19702029 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:19702029A>C c.638T>G c.(637-639)gTg>gGg p.V213G BRCA 23 19713836 19713836 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:19713836A>C c.414T>G c.(412-414)ggT>ggG p.G138G BRCA 23 19764460 19764460 + Missense_Mutation SNP T T G TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chrX:19764460T>G c.262A>C c.(262-264)Acg>Ccg p.T88P BRCA 23 19764522 19764522 + Missense_Mutation SNP T T C TCGA-D8-A1JS-01A-11D-A13L-09 TCGA-D8-A1JS-10A-01D-A13O-09 g.chrX:19764522T>C c.200A>G c.(199-201)aAc>aGc p.N67S BRCA 23 19854375 19854375 + Silent SNP G G A TCGA-C8-A12U-01A-11D-A10Y-09 TCGA-C8-A12U-10A-01D-A110-09 g.chrX:19854375G>A c.30C>T c.(28-30)taC>taT p.Y10Y CESC 23 19568181 19568181 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 g.chrX:19568181C>T c.1405G>A c.(1405-1407)Gtg>Atg p.V469M CESC 23 19626095 19626095 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chrX:19626095G>A c.966C>T c.(964-966)ttC>ttT p.F322F CESC 23 19713767 19713767 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chrX:19713767C>T c.483G>A c.(481-483)gaG>gaA p.E161E CESC 23 19764468 19764468 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chrX:19764468G>C c.254C>G c.(253-255)tCt>tGt p.S85C CHOL 23 19725065 19725065 + Missense_Mutation SNP G G T TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chrX:19725065G>T c.324C>A c.(322-324)agC>agA p.S108R COAD 23 19554564 19554564 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:19554564C>T c.1969G>A c.(1969-1971)Gac>Aac p.D657N COAD 23 19560215 19560215 + Frame_Shift_Del DEL G G - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chrX:19560215delG c.1720delC c.(1720-1722)ctgfs p.L574fs COAD 23 19564094 19564094 + Silent SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chrX:19564094C>T c.1569G>A c.(1567-1569)gcG>gcA p.A523A COAD 23 19568110 19568110 + Silent SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chrX:19568110C>T c.1476G>A c.(1474-1476)ccG>ccA p.P492P COAD 23 19587274 19587274 + Missense_Mutation SNP C C A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:19587274C>A c.1331G>T c.(1330-1332)aGt>aTt p.S444I COAD 23 19606773 19606773 + Missense_Mutation SNP A A G TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chrX:19606773A>G c.1286T>C c.(1285-1287)cTg>cCg p.L429P COAD 23 19606879 19606879 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chrX:19606879A>G c.1180T>C c.(1180-1182)Tcc>Ccc p.S394P COAD 23 19702079 19702079 + Silent SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chrX:19702079G>A c.588C>T c.(586-588)gcC>gcT p.A196A COAD 23 19713745 19713745 + Missense_Mutation SNP G G T TCGA-AA-3544-01A-01W-0831-10 TCGA-AA-3544-10A-01W-0831-10 g.chrX:19713745G>T c.505C>A c.(505-507)Cag>Aag p.Q169K COAD 23 19713827 19713827 + Silent SNP G G A TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chrX:19713827G>A c.423C>T c.(421-423)aaC>aaT p.N141N COAD 23 19764487 19764487 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:19764487T>G c.235A>C c.(235-237)Agt>Cgt p.S79R COAD 23 19764496 19764496 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chrX:19764496C>T c.226G>A c.(226-228)Gaa>Aaa p.E76K COAD 23 19817770 19817770 + Intron SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:19817770G>A COADREAD 23 19554564 19554564 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:19554564C>T c.1969G>A c.(1969-1971)Gac>Aac p.D657N COADREAD 23 19560215 19560215 + Frame_Shift_Del DEL G G - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chrX:19560215delG c.1720delC c.(1720-1722)ctgfs p.L574fs COADREAD 23 19564094 19564094 + Silent SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chrX:19564094C>T c.1569G>A c.(1567-1569)gcG>gcA p.A523A COADREAD 23 19568110 19568110 + Silent SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chrX:19568110C>T c.1476G>A c.(1474-1476)ccG>ccA p.P492P COADREAD 23 19587274 19587274 + Missense_Mutation SNP C C A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:19587274C>A c.1331G>T c.(1330-1332)aGt>aTt p.S444I COADREAD 23 19606773 19606773 + Missense_Mutation SNP A A G TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chrX:19606773A>G c.1286T>C c.(1285-1287)cTg>cCg p.L429P COADREAD 23 19606879 19606879 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chrX:19606879A>G c.1180T>C c.(1180-1182)Tcc>Ccc p.S394P COADREAD 23 19702079 19702079 + Silent SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chrX:19702079G>A c.588C>T c.(586-588)gcC>gcT p.A196A COADREAD 23 19713745 19713745 + Missense_Mutation SNP G G T TCGA-AA-3544-01A-01W-0831-10 TCGA-AA-3544-10A-01W-0831-10 g.chrX:19713745G>T c.505C>A c.(505-507)Cag>Aag p.Q169K COADREAD 23 19713827 19713827 + Silent SNP G G A TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chrX:19713827G>A c.423C>T c.(421-423)aaC>aaT p.N141N COADREAD 23 19725017 19725017 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:19725017G>T c.372C>A c.(370-372)atC>atA p.I124I COADREAD 23 19764487 19764487 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:19764487T>G c.235A>C c.(235-237)Agt>Cgt p.S79R COADREAD 23 19764496 19764496 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chrX:19764496C>T c.226G>A c.(226-228)Gaa>Aaa p.E76K COADREAD 23 19817770 19817770 + Intron SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:19817770G>A ESCA 23 19560215 19560215 + Frame_Shift_Del DEL G G - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chrX:19560215delG c.1720delC c.(1720-1722)ctgfs p.L574fs ESCA 23 19568146 19568147 + Frame_Shift_Ins INS - - T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 g.chrX:19568146_19568147insT c.1439_1440insA c.(1438-1440)accfs p.T480fs ESCA 23 19568147 19568147 + Missense_Mutation SNP G G C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 g.chrX:19568147G>C c.1439C>G c.(1438-1440)aCc>aGc p.T480S ESCA 23 19702016 19702016 + Missense_Mutation SNP G G T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 g.chrX:19702016G>T c.651C>A c.(649-651)gaC>gaA p.D217E ESCA 23 19713766 19713766 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chrX:19713766G>T c.484C>A c.(484-486)Ctt>Att p.L162I GBMLGG 23 19626117 19626117 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:19626117C>T c.944G>A c.(943-945)cGa>cAa p.R315Q GBMLGG 23 19713790 19713790 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 g.chrX:19713790C>T c.460G>A c.(460-462)Gag>Aag p.E154K GBMLGG 23 19713826 19713826 + Missense_Mutation SNP C C A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 g.chrX:19713826C>A c.424G>T c.(424-426)Ggg>Tgg p.G142W GBMLGG 23 19713850 19713850 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:19713850C>A c.400G>T c.(400-402)Gga>Tga p.G134* GBMLGG 23 19764444 19764444 + Missense_Mutation SNP T T A TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chrX:19764444T>A c.278A>T c.(277-279)aAt>aTt p.N93I HNSC 23 19555888 19555888 + Missense_Mutation SNP T T G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chrX:19555888T>G c.1903A>C c.(1903-1905)Aaa>Caa p.K635Q HNSC 23 19560228 19560228 + Silent SNP C C T TCGA-UF-A7JT-01A-11D-A34J-08 TCGA-UF-A7JT-10A-01D-A34M-08 g.chrX:19560228C>T c.1707G>A c.(1705-1707)gcG>gcA p.A569A HNSC 23 19568091 19568091 + Splice_Site SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chrX:19568091C>T c.e14+1 HNSC 23 19587305 19587305 + Splice_Site SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 g.chrX:19587305C>T c.1300G>A c.(1300-1302)Ggt>Agt p.G434S HNSC 23 19702001 19702001 + Missense_Mutation SNP C C A TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chrX:19702001C>A c.666G>T c.(664-666)aaG>aaT p.K222N HNSC 23 19702076 19702076 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chrX:19702076G>A c.591C>T c.(589-591)aaC>aaT p.N197N HNSC 23 19702122 19702122 + Missense_Mutation SNP T T A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 g.chrX:19702122T>A c.545A>T c.(544-546)gAg>gTg p.E182V HNSC 23 19725001 19725001 + Missense_Mutation SNP C C G TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chrX:19725001C>G c.388G>C c.(388-390)Gag>Cag p.E130Q HNSC 23 19764535 19764535 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chrX:19764535C>T c.187G>A c.(187-189)Gac>Aac p.D63N HNSC 23 19854368 19854368 + Missense_Mutation SNP G G T TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chrX:19854368G>T c.37C>A c.(37-39)Cag>Aag p.Q13K KICH 23 19854348 19854348 + Silent SNP C C T TCGA-KL-8345-01A-11D-2310-10 TCGA-KL-8345-11A-01D-2310-10 g.chrX:19854348C>T c.57G>A c.(55-57)acG>acA p.T19T KIPAN 23 19560042 19560043 + Splice_Site INS - - T TCGA-B9-A5W8-01A-11D-A28G-10 TCGA-B9-A5W8-10A-01D-A28G-10 g.chrX:19560042_19560043insT c.e16+1 KIPAN 23 19560045 19560045 + Missense_Mutation SNP C C A TCGA-B9-A5W8-01A-11D-A28G-10 TCGA-B9-A5W8-10A-01D-A28G-10 g.chrX:19560045C>A c.1890G>T c.(1888-1890)caG>caT p.Q630H KIPAN 23 19560246 19560247 + Frame_Shift_Ins INS - - G TCGA-A3-3367-01A-02D-1421-08 TCGA-A3-3367-11A-01D-1421-08 g.chrX:19560246_19560247insG c.1688_1689insC c.(1687-1689)ccafs p.P563fs KIPAN 23 19560246 19560247 + Frame_Shift_Ins INS - - G TCGA-B0-4842-01A-02D-1421-08 TCGA-B0-4842-11A-01D-1421-08 g.chrX:19560246_19560247insG c.1688_1689insC c.(1687-1689)ccafs p.P563fs KIPAN 23 19587268 19587268 + Missense_Mutation SNP A A T TCGA-BP-4330-01A-01D-1366-10 TCGA-BP-4330-11A-01D-1366-10 g.chrX:19587268A>T c.1337T>A c.(1336-1338)cTa>cAa p.L446Q KIPAN 23 19626146 19626146 + Silent SNP G G T TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chrX:19626146G>T c.915C>A c.(913-915)ggC>ggA p.G305G KIPAN 23 19854348 19854348 + Silent SNP C C T TCGA-KL-8345-01A-11D-2310-10 TCGA-KL-8345-11A-01D-2310-10 g.chrX:19854348C>T c.57G>A c.(55-57)acG>acA p.T19T KIRC 23 19560246 19560247 + Frame_Shift_Ins INS - - G TCGA-A3-3367-01A-02D-1421-08 TCGA-A3-3367-11A-01D-1421-08 g.chrX:19560246_19560247insG c.1688_1689insC c.(1687-1689)ccafs p.P563fs KIRC 23 19560246 19560247 + Frame_Shift_Ins INS - - G TCGA-B0-4842-01A-02D-1421-08 TCGA-B0-4842-11A-01D-1421-08 g.chrX:19560246_19560247insG c.1688_1689insC c.(1687-1689)ccafs p.P563fs KIRC 23 19587268 19587268 + Missense_Mutation SNP A A T TCGA-BP-4330-01A-01D-1366-10 TCGA-BP-4330-11A-01D-1366-10 g.chrX:19587268A>T c.1337T>A c.(1336-1338)cTa>cAa p.L446Q KIRP 23 19560042 19560043 + Splice_Site INS - - T TCGA-B9-A5W8-01A-11D-A28G-10 TCGA-B9-A5W8-10A-01D-A28G-10 g.chrX:19560042_19560043insT c.e16+1 KIRP 23 19560045 19560045 + Missense_Mutation SNP C C A TCGA-B9-A5W8-01A-11D-A28G-10 TCGA-B9-A5W8-10A-01D-A28G-10 g.chrX:19560045C>A c.1890G>T c.(1888-1890)caG>caT p.Q630H KIRP 23 19626146 19626146 + Silent SNP G G T TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chrX:19626146G>T c.915C>A c.(913-915)ggC>ggA p.G305G LGG 23 19626117 19626117 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:19626117C>T c.944G>A c.(943-945)cGa>cAa p.R315Q LGG 23 19713790 19713790 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 g.chrX:19713790C>T c.460G>A c.(460-462)Gag>Aag p.E154K LGG 23 19713826 19713826 + Missense_Mutation SNP C C A TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 g.chrX:19713826C>A c.424G>T c.(424-426)Ggg>Tgg p.G142W LGG 23 19713850 19713850 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:19713850C>A c.400G>T c.(400-402)Gga>Tga p.G134* LGG 23 19764444 19764444 + Missense_Mutation SNP T T A TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chrX:19764444T>A c.278A>T c.(277-279)aAt>aTt p.N93I LIHC 23 19560246 19560247 + Frame_Shift_Ins INS - - G TCGA-DD-A118-01A-11D-A12Z-10 TCGA-DD-A118-11A-11D-A12Z-10 g.chrX:19560246_19560247insG c.1688_1689insC c.(1687-1689)ccafs p.P563fs LIHC 23 19663542 19663542 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chrX:19663542delT c.778delA c.(778-780)acafs p.T260fs LUAD 23 19554562 19554562 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chrX:19554562G>A c.1971C>T c.(1969-1971)gaC>gaT p.D657D LUAD 23 19555848 19555848 + Missense_Mutation SNP C C A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chrX:19555848C>A c.1943G>T c.(1942-1944)cGg>cTg p.R648L LUAD 23 19555896 19555896 + Missense_Mutation SNP C C G TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chrX:19555896C>G c.1895G>C c.(1894-1896)cGa>cCa p.R632P LUAD 23 19560137 19560137 + Nonsense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chrX:19560137C>A c.1798G>T c.(1798-1800)Gag>Tag p.E600* LUAD 23 19560190 19560190 + Missense_Mutation SNP C C G TCGA-55-6712-01A-11D-1855-08 TCGA-55-6712-10A-01D-1855-08 g.chrX:19560190C>G c.1745G>C c.(1744-1746)gGa>gCa p.G582A LUAD 23 19564044 19564044 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chrX:19564044G>T c.1619C>A c.(1618-1620)tCc>tAc p.S540Y LUAD 23 19626146 19626153 + Frame_Shift_Del DEL GCCTACGT GCCTACGT - TCGA-62-A470-01A-11D-A24D-08 TCGA-62-A470-10A-01D-A24F-08 g.chrX:19626146_19626153delGCCTACGT c.908_915delACGTAGGC c.(907-915)gacgtaggcfs p.DVG303fs LUAD 23 19649988 19649988 + Silent SNP G G A TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chrX:19649988G>A c.891C>T c.(889-891)atC>atT p.I297I LUAD 23 19650023 19650023 + Silent SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 g.chrX:19650023A>G c.856T>C c.(856-858)Ttg>Ctg p.L286L LUAD 23 19817751 19817751 + Intron SNP C C A TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chrX:19817751C>A LUAD 23 19854298 19854298 + Missense_Mutation SNP C C A TCGA-J2-8194-01A-11D-2238-08 TCGA-J2-8194-10A-01D-2238-08 g.chrX:19854298C>A c.107G>T c.(106-108)tGg>tTg p.W36L LUSC 23 19564056 19564056 + Missense_Mutation SNP G G C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 g.chrX:19564056G>C c.1607C>G c.(1606-1608)aCt>aGt p.T536S LUSC 23 19568202 19568202 + Splice_Site SNP C C T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chrX:19568202C>T c.e14-1 LUSC 23 19713856 19713856 + Missense_Mutation SNP C C T TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chrX:19713856C>T c.394G>A c.(394-396)Gag>Aag p.E132K LUSC 23 19764486 19764486 + Missense_Mutation SNP C C A TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chrX:19764486C>A c.236G>T c.(235-237)aGt>aTt p.S79I READ 23 19725017 19725017 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:19725017G>T c.372C>A c.(370-372)atC>atA p.I124I SKCM 23 19560173 19560173 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chrX:19560173G>A c.1762C>T c.(1762-1764)Ccg>Tcg p.P588S SKCM 23 19564139 19564139 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:19564139G>A c.1524C>T c.(1522-1524)gaC>gaT p.D508D SKCM 23 19564142 19564142 + Missense_Mutation SNP G G C TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chrX:19564142G>C c.1521C>G c.(1519-1521)ttC>ttG p.F507L SKCM 23 19568112 19568112 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chrX:19568112G>A c.1474C>T c.(1474-1476)Ccg>Tcg p.P492S SKCM 23 19610234 19610234 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chrX:19610234C>T c.1089G>A c.(1087-1089)aaG>aaA p.K363K SKCM 23 19713797 19713797 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chrX:19713797G>A c.453C>T c.(451-453)ttC>ttT p.F151F SKCM 23 19713826 19713826 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chrX:19713826C>T c.424G>A c.(424-426)Ggg>Agg p.G142R SKCM 23 19713846 19713846 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chrX:19713846C>T c.404G>A c.(403-405)tGg>tAg p.W135* SKCM 23 19854289 19854289 + Missense_Mutation SNP C C T TCGA-D3-A2JC-06A-11D-A19A-08 TCGA-D3-A2JC-10A-01D-A19A-08 g.chrX:19854289C>T c.116G>A c.(115-117)gGa>gAa p.G39E

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 X 19587301 19587301 single base substitution T C missense_variant D174G 521A>G BLCA-CN X 19587301 19587301 single base substitution T C missense_variant D197G 590A>G BLCA-CN X 19587301 19587301 single base substitution T C missense_variant D398G 1193A>G BLCA-CN X 19587301 19587301 single base substitution T C missense_variant D415G 1244A>G BLCA-CN X 19587301 19587301 single base substitution T C missense_variant D435G 1304A>G BLCA-US X 19560286 19560286 single base substitution G A missense_variant P289L 866C>T BLCA-US X 19560286 19560286 single base substitution G A missense_variant P312L 935C>T BLCA-US X 19560286 19560286 single base substitution G A missense_variant P513L 1538C>T BLCA-US X 19560286 19560286 single base substitution G A missense_variant P530L 1589C>T BLCA-US X 19560286 19560286 single base substitution G A missense_variant P550L 1649C>T BLCA-US X 19713821 19713821 single base substitution C G missense_variant K106N 318G>C BLCA-US X 19713821 19713821 single base substitution C G missense_variant K143N 429G>C BLCA-US X 19713821 19713821 single base substitution C G missense_variant K51N 153G>C BLCA-US X 19713821 19713821 single base substitution C G missense_variant K79N 237G>C BLCA-US X 19713821 19713821 single base substitution C G missense_variant K90N 270G>C BLCA-US X 19713821 19713821 single base substitution C G upstream_gene_variant BLCA-US X 19764521 19764521 single base substitution G A synonymous_variant N14N 42C>T BLCA-US X 19764521 19764521 single base substitution G A synonymous_variant N30N 90C>T BLCA-US X 19764521 19764521 single base substitution G A synonymous_variant N3N 9C>T BLCA-US X 19764521 19764521 single base substitution G A synonymous_variant N67N 201C>T BRCA-EU X 19547343 19547343 single base substitution C T downstream_gene_variant BRCA-EU X 19548147 19548147 single base substitution C A downstream_gene_variant BRCA-EU X 19548556 19548556 single base substitution A C downstream_gene_variant BRCA-EU X 19548859 19548859 single base substitution C A downstream_gene_variant BRCA-EU X 19549293 19549293 single base substitution A G downstream_gene_variant BRCA-EU X 19549348 19549348 single base substitution G A downstream_gene_variant BRCA-EU X 19549591 19549591 single base substitution C T downstream_gene_variant BRCA-EU X 19550711 19550711 single base substitution G T downstream_gene_variant BRCA-EU X 19551081 19551081 single base substitution C T downstream_gene_variant BRCA-EU X 19551584 19551584 single base substitution C T downstream_gene_variant BRCA-EU X 19552553 19552553 single base substitution T C 3_prime_UTR_variant BRCA-EU X 19552553 19552553 single base substitution T C downstream_gene_variant BRCA-EU X 19553051 19553051 single base substitution C T 3_prime_UTR_variant BRCA-EU X 19553051 19553051 single base substitution C T downstream_gene_variant BRCA-EU X 19553321 19553321 single base substitution C T 3_prime_UTR_variant BRCA-EU X 19553321 19553321 single base substitution C T downstream_gene_variant BRCA-EU X 19553867 19553867 single base substitution C A 3_prime_UTR_variant BRCA-EU X 19553867 19553867 single base substitution C A downstream_gene_variant BRCA-EU X 19553949 19553949 single base substitution A G 3_prime_UTR_variant BRCA-EU X 19553949 19553949 single base substitution A G downstream_gene_variant BRCA-EU X 19554055 19554055 single base substitution G C 3_prime_UTR_variant BRCA-EU X 19554055 19554055 single base substitution G C downstream_gene_variant BRCA-EU X 19554268 19554268 single base substitution C A 3_prime_UTR_variant BRCA-EU X 19554268 19554268 single base substitution C A downstream_gene_variant BRCA-EU X 19554269 19554269 single base substitution A T 3_prime_UTR_variant BRCA-EU X 19554269 19554269 single base substitution A T downstream_gene_variant BRCA-EU X 19554283 19554283 single base substitution G A 3_prime_UTR_variant BRCA-EU X 19554283 19554283 single base substitution G A downstream_gene_variant BRCA-EU X 19554304 19554304 single base substitution T A 3_prime_UTR_variant BRCA-EU X 19554304 19554304 single base substitution T A downstream_gene_variant BRCA-EU X 19554658 19554658 single base substitution C T intron_variant BRCA-EU X 19554764 19554764 single base substitution G T intron_variant BRCA-EU X 19556078 19556078 single base substitution C T intron_variant BRCA-EU X 19556235 19556235 single base substitution T C intron_variant BRCA-EU X 19556466 19556466 single base substitution G A intron_variant BRCA-EU X 19559986 19559986 single base substitution G T intron_variant BRCA-EU X 19561013 19561013 single base substitution C T intron_variant BRCA-EU X 19561122 19561122 single base substitution A C intron_variant BRCA-EU X 19561398 19561398 single base substitution G A intron_variant BRCA-EU X 19562157 19562157 single base substitution A T intron_variant BRCA-EU X 19562753 19562753 single base substitution A G intron_variant BRCA-EU X 19564540 19564565 deletion of <=200bp GCCCTCACAGGGCTGACAGTCTACCA - intron_variant BRCA-EU X 19567546 19567546 single base substitution A T intron_variant BRCA-EU X 19568998 19568998 single base substitution A G intron_variant BRCA-EU X 19569160 19569160 single base substitution A G intron_variant BRCA-EU X 19570093 19570093 single base substitution G A intron_variant BRCA-EU X 19571903 19571903 single base substitution G A intron_variant BRCA-EU X 19573454 19573454 single base substitution G A intron_variant BRCA-EU X 19573882 19573882 single base substitution G A intron_variant BRCA-EU X 19574051 19574051 single base substitution G A intron_variant BRCA-EU X 19574224 19574224 single base substitution G A intron_variant BRCA-EU X 19574226 19574226 insertion of <=200bp - A intron_variant BRCA-EU X 19574538 19574538 single base substitution T C intron_variant BRCA-EU X 19576544 19576544 single base substitution C T intron_variant BRCA-EU X 19577138 19577138 single base substitution C T intron_variant BRCA-EU X 19577841 19577841 single base substitution G A intron_variant BRCA-EU X 19577871 19577871 single base substitution A G intron_variant BRCA-EU X 19578943 19578943 single base substitution C G intron_variant BRCA-EU X 19580799 19580799 single base substitution A T intron_variant BRCA-EU X 19581192 19581192 single base substitution G A intron_variant BRCA-EU X 19581684 19581684 insertion of <=200bp - TAG intron_variant BRCA-EU X 19581719 19581719 single base substitution G C intron_variant BRCA-EU X 19582588 19582588 single base substitution C T intron_variant BRCA-EU X 19584738 19584738 single base substitution C T intron_variant BRCA-EU X 19585551 19585551 single base substitution C T intron_variant BRCA-EU X 19586010 19586010 deletion of <=200bp A - intron_variant BRCA-EU X 19586044 19586044 single base substitution G A intron_variant BRCA-EU X 19586303 19586303 single base substitution T C intron_variant BRCA-EU X 19586616 19586616 single base substitution A G intron_variant BRCA-EU X 19587145 19587145 single base substitution C T intron_variant BRCA-EU X 19587147 19587147 single base substitution G C intron_variant BRCA-EU X 19587876 19587876 single base substitution C G intron_variant BRCA-EU X 19588821 19588821 single base substitution C A intron_variant BRCA-EU X 19589552 19589552 single base substitution G T intron_variant BRCA-EU X 19589776 19589776 single base substitution G A intron_variant BRCA-EU X 19591275 19591275 single base substitution G A intron_variant BRCA-EU X 19592070 19592070 single base substitution G A intron_variant BRCA-EU X 19592813 19592813 single base substitution C T intron_variant BRCA-EU X 19593243 19593243 single base substitution T C intron_variant BRCA-EU X 19593513 19593513 single base substitution C T intron_variant BRCA-EU X 19595124 19595124 single base substitution G A intron_variant BRCA-EU X 19595215 19595215 single base substitution C G intron_variant BRCA-EU X 19597567 19597567 single base substitution G C intron_variant BRCA-EU X 19597776 19597776 single base substitution T G intron_variant BRCA-EU X 19597909 19597909 single base substitution A G intron_variant BRCA-EU X 19598007 19598007 single base substitution G C intron_variant BRCA-EU X 19598091 19598091 single base substitution A T intron_variant BRCA-EU X 19598576 19598576 single base substitution G A intron_variant BRCA-EU X 19599302 19599302 single base substitution C A intron_variant BRCA-EU X 19600014 19600014 single base substitution C A intron_variant BRCA-EU X 19600155 19600155 single base substitution T C intron_variant BRCA-EU X 19600878 19600878 single base substitution A G intron_variant BRCA-EU X 19601420 19601420 single base substitution C T downstream_gene_variant BRCA-EU X 19601420 19601420 single base substitution C T intron_variant BRCA-EU X 19604042 19604042 single base substitution C T downstream_gene_variant BRCA-EU X 19604042 19604042 single base substitution C T intron_variant BRCA-EU X 19605435 19605435 single base substitution G A downstream_gene_variant BRCA-EU X 19605435 19605435 single base substitution G A intron_variant BRCA-EU X 19608585 19608585 single base substitution G A downstream_gene_variant BRCA-EU X 19608585 19608585 single base substitution G A intron_variant BRCA-EU X 19609556 19609556 single base substitution G A downstream_gene_variant BRCA-EU X 19609556 19609556 single base substitution G A intron_variant BRCA-EU X 19610134 19610134 single base substitution A T downstream_gene_variant BRCA-EU X 19610134 19610134 single base substitution A T intron_variant BRCA-EU X 19610297 19610297 single base substitution A C intron_variant BRCA-EU X 19611856 19611856 single base substitution C A intron_variant BRCA-EU X 19612132 19612132 single base substitution G T intron_variant BRCA-EU X 19612342 19612342 single base substitution A T intron_variant BRCA-EU X 19612784 19612784 deletion of <=200bp T - intron_variant BRCA-EU X 19613865 19613865 single base substitution A T intron_variant BRCA-EU X 19614001 19614001 single base substitution C T intron_variant BRCA-EU X 19616062 19616062 single base substitution C T intron_variant BRCA-EU X 19616196 19616196 single base substitution C A intron_variant BRCA-EU X 19617502 19617502 single base substitution G C intron_variant BRCA-EU X 19617883 19617883 single base substitution C T intron_variant BRCA-EU X 19618107 19618107 single base substitution G A intron_variant BRCA-EU X 19618970 19618970 deletion of <=200bp A - intron_variant BRCA-EU X 19619937 19619937 single base substitution C T intron_variant BRCA-EU X 19620999 19620999 single base substitution A C intron_variant BRCA-EU X 19621017 19621017 single base substitution C T intron_variant BRCA-EU X 19621519 19621519 single base substitution C G intron_variant BRCA-EU X 19621815 19621815 deletion of <=200bp T - intron_variant BRCA-EU X 19621969 19621969 single base substitution C A intron_variant BRCA-EU X 19622188 19622188 deletion of <=200bp T - intron_variant BRCA-EU X 19622195 19622195 single base substitution G A intron_variant BRCA-EU X 19624542 19624542 single base substitution A G intron_variant BRCA-EU X 19625553 19625553 single base substitution G C intron_variant BRCA-EU X 19625656 19625656 single base substitution C A intron_variant BRCA-EU X 19625656 19625656 single base substitution C G intron_variant BRCA-EU X 19626234 19626234 single base substitution C T intron_variant BRCA-EU X 19626513 19626513 single base substitution G A intron_variant BRCA-EU X 19627293 19627293 single base substitution G T intron_variant BRCA-EU X 19627372 19627372 single base substitution A G intron_variant BRCA-EU X 19627629 19627629 deletion of <=200bp A - intron_variant BRCA-EU X 19627841 19627841 single base substitution C G intron_variant BRCA-EU X 19628856 19628856 single base substitution G C intron_variant BRCA-EU X 19629207 19629207 single base substitution C G intron_variant BRCA-EU X 19629633 19629633 single base substitution G A intron_variant BRCA-EU X 19629906 19629906 single base substitution C T intron_variant BRCA-EU X 19630232 19630232 single base substitution A T intron_variant BRCA-EU X 19630259 19630259 single base substitution G A intron_variant BRCA-EU X 19630755 19630755 deletion of <=200bp A - intron_variant BRCA-EU X 19632045 19632045 single base substitution G C intron_variant BRCA-EU X 19634235 19634235 single base substitution A T intron_variant BRCA-EU X 19634255 19634255 insertion of <=200bp - T intron_variant BRCA-EU X 19634554 19634554 deletion of <=200bp A - intron_variant BRCA-EU X 19634773 19634773 single base substitution C G intron_variant BRCA-EU X 19634935 19634935 single base substitution C G intron_variant BRCA-EU X 19635806 19635806 single base substitution C T intron_variant BRCA-EU X 19636296 19636296 single base substitution G A intron_variant BRCA-EU X 19636340 19636340 deletion of <=200bp A - intron_variant BRCA-EU X 19636813 19636813 single base substitution G T intron_variant BRCA-EU X 19637076 19637076 single base substitution C A intron_variant BRCA-EU X 19637839 19637839 single base substitution G T intron_variant BRCA-EU X 19638234 19638234 single base substitution C T intron_variant BRCA-EU X 19638673 19638673 single base substitution C G intron_variant BRCA-EU X 19638687 19638687 single base substitution G C intron_variant BRCA-EU X 19640419 19640419 single base substitution G C intron_variant BRCA-EU X 19641053 19641053 single base substitution C T intron_variant BRCA-EU X 19641328 19641328 single base substitution T G intron_variant BRCA-EU X 19642500 19642500 single base substitution G C intron_variant BRCA-EU X 19642594 19642594 single base substitution C T intron_variant BRCA-EU X 19643288 19643288 single base substitution G T intron_variant BRCA-EU X 19644601 19644601 single base substitution G A intron_variant BRCA-EU X 19644913 19644913 single base substitution C A intron_variant BRCA-EU X 19645597 19645597 single base substitution G A intron_variant BRCA-EU X 19645923 19645923 single base substitution G A intron_variant BRCA-EU X 19646497 19646497 single base substitution C G intron_variant BRCA-EU X 19646499 19646499 single base substitution G T intron_variant BRCA-EU X 19646874 19646874 single base substitution G T intron_variant BRCA-EU X 19647235 19647235 single base substitution T G intron_variant BRCA-EU X 19647288 19647288 single base substitution C T intron_variant BRCA-EU X 19647393 19647393 single base substitution G A intron_variant BRCA-EU X 19647637 19647637 single base substitution T C intron_variant BRCA-EU X 19648493 19648493 single base substitution A G intron_variant BRCA-EU X 19649621 19649621 deletion of <=200bp A - intron_variant BRCA-EU X 19649742 19649742 single base substitution C T intron_variant BRCA-EU X 19650175 19650175 single base substitution C T intron_variant BRCA-EU X 19650390 19650390 single base substitution T G intron_variant BRCA-EU X 19650456 19650456 single base substitution T G intron_variant BRCA-EU X 19650563 19650563 single base substitution G T intron_variant BRCA-EU X 19650623 19650623 single base substitution G T intron_variant BRCA-EU X 19650717 19650717 single base substitution A C intron_variant BRCA-EU X 19652566 19652566 single base substitution A T intron_variant BRCA-EU X 19652810 19652810 single base substitution G C intron_variant BRCA-EU X 19653042 19653042 single base substitution C G intron_variant BRCA-EU X 19653649 19653649 single base substitution G A intron_variant BRCA-EU X 19654444 19654444 single base substitution C G intron_variant BRCA-EU X 19655053 19655053 single base substitution T C intron_variant BRCA-EU X 19655299 19655299 single base substitution A C intron_variant BRCA-EU X 19655512 19655512 single base substitution G C intron_variant BRCA-EU X 19656143 19656143 single base substitution C T intron_variant BRCA-EU X 19658284 19658284 single base substitution A G intron_variant BRCA-EU X 19658302 19658302 single base substitution A T intron_variant BRCA-EU X 19659598 19659598 single base substitution C T downstream_gene_variant BRCA-EU X 19659598 19659598 single base substitution C T intron_variant BRCA-EU X 19660196 19660196 single base substitution G C downstream_gene_variant BRCA-EU X 19660196 19660196 single base substitution G C intron_variant BRCA-EU X 19660201 19660201 single base substitution C T downstream_gene_variant BRCA-EU X 19660201 19660201 single base substitution C T intron_variant BRCA-EU X 19660212 19660212 single base substitution G A downstream_gene_variant BRCA-EU X 19660212 19660212 single base substitution G A intron_variant BRCA-EU X 19664017 19664017 single base substitution A G intron_variant BRCA-EU X 19664487 19664487 single base substitution G T intron_variant BRCA-EU X 19664740 19664740 single base substitution C A intron_variant BRCA-EU X 19664996 19664996 single base substitution T A intron_variant BRCA-EU X 19665079 19665079 single base substitution C G intron_variant BRCA-EU X 19665880 19665880 single base substitution C A intron_variant BRCA-EU X 19666484 19666484 single base substitution G A intron_variant BRCA-EU X 19666812 19666812 single base substitution T A intron_variant BRCA-EU X 19667017 19667017 single base substitution G A intron_variant BRCA-EU X 19668227 19668227 single base substitution A C intron_variant BRCA-EU X 19668323 19668323 single base substitution T G intron_variant BRCA-EU X 19668639 19668639 single base substitution C G intron_variant BRCA-EU X 19669179 19669179 single base substitution C T intron_variant BRCA-EU X 19670364 19670364 single base substitution C T intron_variant BRCA-EU X 19670596 19670596 insertion of <=200bp - AC intron_variant BRCA-EU X 19671016 19671016 single base substitution C G intron_variant BRCA-EU X 19671783 19671783 single base substitution C G intron_variant BRCA-EU X 19672153 19672153 deletion of <=200bp A - intron_variant BRCA-EU X 19672407 19672407 deletion of <=200bp G - intron_variant BRCA-EU X 19672484 19672484 single base substitution G C intron_variant BRCA-EU X 19673777 19673777 single base substitution C T intron_variant BRCA-EU X 19673926 19673926 deletion of <=200bp G - intron_variant BRCA-EU X 19674131 19674131 single base substitution G A intron_variant BRCA-EU X 19675061 19675061 single base substitution G A intron_variant BRCA-EU X 19675406 19675406 single base substitution G C intron_variant BRCA-EU X 19675418 19675418 single base substitution G C intron_variant BRCA-EU X 19675980 19675980 single base substitution C T intron_variant BRCA-EU X 19676349 19676349 single base substitution G A intron_variant BRCA-EU X 19678077 19678077 single base substitution G C intron_variant BRCA-EU X 19679252 19679252 single base substitution G C intron_variant BRCA-EU X 19679545 19679545 single base substitution T A intron_variant BRCA-EU X 19682363 19682363 single base substitution C A intron_variant BRCA-EU X 19682948 19682948 single base substitution C A intron_variant BRCA-EU X 19682948 19682948 single base substitution C A upstream_gene_variant BRCA-EU X 19683088 19683088 single base substitution T C intron_variant BRCA-EU X 19683088 19683088 single base substitution T C upstream_gene_variant BRCA-EU X 19683105 19683105 single base substitution C A intron_variant BRCA-EU X 19683105 19683105 single base substitution C A upstream_gene_variant BRCA-EU X 19684992 19684992 single base substitution A T intron_variant BRCA-EU X 19684992 19684992 single base substitution A T upstream_gene_variant BRCA-EU X 19685050 19685050 single base substitution G T intron_variant BRCA-EU X 19685050 19685050 single base substitution G T upstream_gene_variant BRCA-EU X 19686179 19686179 single base substitution C T intron_variant BRCA-EU X 19686179 19686179 single base substitution C T upstream_gene_variant BRCA-EU X 19686668 19686668 deletion of <=200bp A - intron_variant BRCA-EU X 19686668 19686668 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 19687881 19687881 single base substitution T C intron_variant BRCA-EU X 19688391 19688391 deletion of <=200bp A - intron_variant BRCA-EU X 19688924 19688924 single base substitution A G intron_variant BRCA-EU X 19688924 19688924 single base substitution A G upstream_gene_variant BRCA-EU X 19689755 19689755 single base substitution T A intron_variant BRCA-EU X 19689755 19689755 single base substitution T A upstream_gene_variant BRCA-EU X 19690323 19690323 deletion of <=200bp A - intron_variant BRCA-EU X 19690323 19690323 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 19691631 19691631 single base substitution G A intron_variant BRCA-EU X 19691631 19691631 single base substitution G A upstream_gene_variant BRCA-EU X 19691735 19691735 single base substitution G A intron_variant BRCA-EU X 19691735 19691735 single base substitution G A upstream_gene_variant BRCA-EU X 19692030 19692030 single base substitution C G intron_variant BRCA-EU X 19692030 19692030 single base substitution C G upstream_gene_variant BRCA-EU X 19692344 19692344 single base substitution C A intron_variant BRCA-EU X 19692344 19692344 single base substitution C A upstream_gene_variant BRCA-EU X 19692396 19692396 deletion of <=200bp A - intron_variant BRCA-EU X 19692396 19692396 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 19692396 19692396 insertion of <=200bp - A intron_variant BRCA-EU X 19692396 19692396 insertion of <=200bp - A upstream_gene_variant BRCA-EU X 19692877 19692877 single base substitution C T intron_variant BRCA-EU X 19692877 19692877 single base substitution C T upstream_gene_variant BRCA-EU X 19694169 19694169 single base substitution A G intron_variant BRCA-EU X 19695933 19695933 single base substitution C T intron_variant BRCA-EU X 19696160 19696160 single base substitution T C intron_variant BRCA-EU X 19696276 19696276 single base substitution G C intron_variant BRCA-EU X 19696412 19696412 single base substitution A G intron_variant BRCA-EU X 19697372 19697372 single base substitution C T downstream_gene_variant BRCA-EU X 19697372 19697372 single base substitution C T intron_variant BRCA-EU X 19697976 19697976 single base substitution G C downstream_gene_variant BRCA-EU X 19697976 19697976 single base substitution G C intron_variant BRCA-EU X 19698620 19698620 single base substitution C T downstream_gene_variant BRCA-EU X 19698620 19698620 single base substitution C T intron_variant BRCA-EU X 19699113 19699113 single base substitution A C downstream_gene_variant BRCA-EU X 19699113 19699113 single base substitution A C intron_variant BRCA-EU X 19699227 19699227 single base substitution G A downstream_gene_variant BRCA-EU X 19699227 19699227 single base substitution G A intron_variant BRCA-EU X 19699768 19699768 single base substitution G T downstream_gene_variant BRCA-EU X 19699768 19699768 single base substitution G T intron_variant BRCA-EU X 19700285 19700285 single base substitution A G downstream_gene_variant BRCA-EU X 19700285 19700285 single base substitution A G intron_variant BRCA-EU X 19705116 19705116 single base substitution G A intron_variant BRCA-EU X 19706440 19706440 single base substitution T G intron_variant BRCA-EU X 19708627 19708627 single base substitution C G intron_variant BRCA-EU X 19708684 19708684 single base substitution G A intron_variant BRCA-EU X 19709800 19709800 single base substitution G A intron_variant BRCA-EU X 19711801 19711801 single base substitution C T intron_variant BRCA-EU X 19712036 19712036 single base substitution C A intron_variant BRCA-EU X 19712185 19712185 single base substitution G A intron_variant BRCA-EU X 19712311 19712311 insertion of <=200bp - A intron_variant BRCA-EU X 19712585 19712585 insertion of <=200bp - C intron_variant BRCA-EU X 19713103 19713103 single base substitution C A intron_variant BRCA-EU X 19713774 19713774 single base substitution G A exon_variant BRCA-EU X 19713774 19713774 single base substitution G A missense_variant S106L 317C>T BRCA-EU X 19713774 19713774 single base substitution G A missense_variant S122L 365C>T BRCA-EU X 19713774 19713774 single base substitution G A missense_variant S159L 476C>T BRCA-EU X 19713774 19713774 single base substitution G A missense_variant S67L 200C>T BRCA-EU X 19713774 19713774 single base substitution G A missense_variant S95L 284C>T BRCA-EU X 19714497 19714497 deletion of <=200bp A - intron_variant BRCA-EU X 19714497 19714497 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 19715222 19715222 single base substitution T G intron_variant BRCA-EU X 19715222 19715222 single base substitution T G upstream_gene_variant BRCA-EU X 19715892 19715892 single base substitution G C intron_variant BRCA-EU X 19715892 19715892 single base substitution G C upstream_gene_variant BRCA-EU X 19716753 19716753 deletion of <=200bp G - intron_variant BRCA-EU X 19716753 19716753 deletion of <=200bp G - upstream_gene_variant BRCA-EU X 19718133 19718133 insertion of <=200bp - T intron_variant BRCA-EU X 19718133 19718133 insertion of <=200bp - T upstream_gene_variant BRCA-EU X 19718239 19718239 single base substitution G A intron_variant BRCA-EU X 19718239 19718239 single base substitution G A upstream_gene_variant BRCA-EU X 19720028 19720028 single base substitution T A intron_variant BRCA-EU X 19720030 19720030 single base substitution T A intron_variant BRCA-EU X 19723543 19723543 single base substitution C A intron_variant BRCA-EU X 19724690 19724690 single base substitution C T intron_variant BRCA-EU X 19725804 19725804 single base substitution G C intron_variant BRCA-EU X 19726678 19726678 single base substitution G A intron_variant BRCA-EU X 19728150 19728150 single base substitution C T intron_variant BRCA-EU X 19730008 19730008 single base substitution G T intron_variant BRCA-EU X 19730581 19730581 single base substitution G A intron_variant BRCA-EU X 19730807 19730807 single base substitution C G intron_variant BRCA-EU X 19731209 19731209 single base substitution C T intron_variant BRCA-EU X 19731547 19731547 insertion of <=200bp - T intron_variant BRCA-EU X 19731969 19731969 single base substitution T C intron_variant BRCA-EU X 19736518 19736518 single base substitution C T intron_variant BRCA-EU X 19737707 19737707 single base substitution T G intron_variant BRCA-EU X 19738418 19738418 single base substitution G T intron_variant BRCA-EU X 19738644 19738644 single base substitution G T intron_variant BRCA-EU X 19740875 19740875 single base substitution G C intron_variant BRCA-EU X 19742830 19742830 single base substitution T G intron_variant BRCA-EU X 19743821 19743821 single base substitution G A intron_variant BRCA-EU X 19744973 19744973 single base substitution G C intron_variant BRCA-EU X 19745942 19745942 single base substitution A G intron_variant BRCA-EU X 19746587 19746587 single base substitution T A intron_variant BRCA-EU X 19747996 19747996 single base substitution G T intron_variant BRCA-EU X 19748266 19748266 deletion of <=200bp T - intron_variant BRCA-EU X 19749061 19749061 single base substitution T C intron_variant BRCA-EU X 19749160 19749160 single base substitution C T intron_variant BRCA-EU X 19749349 19749349 single base substitution G A intron_variant BRCA-EU X 19750298 19750298 single base substitution G C intron_variant BRCA-EU X 19751146 19751146 single base substitution G C intron_variant BRCA-EU X 19751813 19751813 single base substitution C T intron_variant BRCA-EU X 19753058 19753058 single base substitution G C intron_variant BRCA-EU X 19753853 19753853 single base substitution G T intron_variant BRCA-EU X 19754388 19754388 single base substitution C A intron_variant BRCA-EU X 19754940 19754940 single base substitution A G intron_variant BRCA-EU X 19758307 19758307 single base substitution T A intron_variant BRCA-EU X 19758757 19758757 single base substitution G C intron_variant BRCA-EU X 19758960 19758960 single base substitution G A intron_variant BRCA-EU X 19758960 19758960 single base substitution G A upstream_gene_variant BRCA-EU X 19760224 19760224 single base substitution T G intron_variant BRCA-EU X 19760224 19760224 single base substitution T G upstream_gene_variant BRCA-EU X 19760365 19760365 single base substitution C A intron_variant BRCA-EU X 19760365 19760365 single base substitution C A upstream_gene_variant BRCA-EU X 19760910 19760910 single base substitution G C intron_variant BRCA-EU X 19760910 19760910 single base substitution G C upstream_gene_variant BRCA-EU X 19761358 19761358 single base substitution C G intron_variant BRCA-EU X 19761358 19761358 single base substitution C G upstream_gene_variant BRCA-EU X 19761890 19761890 single base substitution A T intron_variant BRCA-EU X 19761890 19761890 single base substitution A T upstream_gene_variant BRCA-EU X 19762381 19762381 deletion of <=200bp G - intron_variant BRCA-EU X 19762381 19762381 deletion of <=200bp G - upstream_gene_variant BRCA-EU X 19762654 19762654 single base substitution A C intron_variant BRCA-EU X 19762654 19762654 single base substitution A C upstream_gene_variant BRCA-EU X 19763881 19763881 single base substitution C T intron_variant BRCA-EU X 19763881 19763881 single base substitution C T upstream_gene_variant BRCA-EU X 19764059 19764059 single base substitution G C intron_variant BRCA-EU X 19764497 19764497 single base substitution G C missense_variant H11Q 33C>G BRCA-EU X 19764497 19764497 single base substitution G C missense_variant H22Q 66C>G BRCA-EU X 19764497 19764497 single base substitution G C missense_variant H38Q 114C>G BRCA-EU X 19764497 19764497 single base substitution G C missense_variant H75Q 225C>G BRCA-EU X 19765173 19765173 single base substitution C G intron_variant BRCA-EU X 19765173 19765173 single base substitution C G upstream_gene_variant BRCA-EU X 19765238 19765238 single base substitution G A intron_variant BRCA-EU X 19765238 19765238 single base substitution G A upstream_gene_variant BRCA-EU X 19765908 19765908 single base substitution C G intron_variant BRCA-EU X 19765908 19765908 single base substitution C G upstream_gene_variant BRCA-EU X 19765964 19765964 single base substitution C T intron_variant BRCA-EU X 19765964 19765964 single base substitution C T upstream_gene_variant BRCA-EU X 19766016 19766016 single base substitution C T intron_variant BRCA-EU X 19766016 19766016 single base substitution C T upstream_gene_variant BRCA-EU X 19766603 19766603 single base substitution G A intron_variant BRCA-EU X 19766603 19766603 single base substitution G A upstream_gene_variant BRCA-EU X 19766746 19766746 single base substitution G A intron_variant BRCA-EU X 19766746 19766746 single base substitution G A upstream_gene_variant BRCA-EU X 19767290 19767291 deletion of <=200bp TT - intron_variant BRCA-EU X 19767290 19767291 deletion of <=200bp TT - upstream_gene_variant BRCA-EU X 19767564 19767564 single base substitution T A intron_variant BRCA-EU X 19767564 19767564 single base substitution T A upstream_gene_variant BRCA-EU X 19768208 19768208 single base substitution C T intron_variant BRCA-EU X 19768208 19768208 single base substitution C T upstream_gene_variant BRCA-EU X 19768735 19768735 single base substitution C A intron_variant BRCA-EU X 19768735 19768735 single base substitution C A upstream_gene_variant BRCA-EU X 19769053 19769053 single base substitution G A intron_variant BRCA-EU X 19769053 19769053 single base substitution G A upstream_gene_variant BRCA-EU X 19770334 19770334 single base substitution T A intron_variant BRCA-EU X 19770334 19770334 single base substitution T A upstream_gene_variant BRCA-EU X 19771241 19771241 single base substitution C A intron_variant BRCA-EU X 19772103 19772103 single base substitution G C intron_variant BRCA-EU X 19772819 19772819 single base substitution T A intron_variant BRCA-EU X 19773042 19773042 single base substitution G T intron_variant BRCA-EU X 19773658 19773658 deletion of <=200bp A - intron_variant BRCA-EU X 19774062 19774062 single base substitution C T intron_variant BRCA-EU X 19774301 19774301 single base substitution C A intron_variant BRCA-EU X 19775009 19775009 single base substitution C T intron_variant BRCA-EU X 19776737 19776737 single base substitution C T intron_variant BRCA-EU X 19778973 19778973 single base substitution G T intron_variant BRCA-EU X 19779454 19779454 single base substitution G A intron_variant BRCA-EU X 19779762 19779762 single base substitution C T intron_variant BRCA-EU X 19779855 19779855 single base substitution C T intron_variant BRCA-EU X 19781373 19781373 single base substitution C G intron_variant BRCA-EU X 19782252 19782252 single base substitution G C intron_variant BRCA-EU X 19782778 19782778 single base substitution G C intron_variant BRCA-EU X 19783657 19783657 single base substitution T A intron_variant BRCA-EU X 19783665 19783665 single base substitution A T intron_variant BRCA-EU X 19783666 19783666 single base substitution T A intron_variant BRCA-EU X 19784366 19784366 deletion of <=200bp T - intron_variant BRCA-EU X 19784858 19784858 single base substitution C G intron_variant BRCA-EU X 19785742 19785742 single base substitution G A intron_variant BRCA-EU X 19785981 19785981 single base substitution A C intron_variant BRCA-EU X 19786622 19786622 single base substitution G A intron_variant BRCA-EU X 19787028 19787029 deletion of <=200bp AC - intron_variant BRCA-EU X 19787274 19787274 single base substitution C A intron_variant BRCA-EU X 19787517 19787517 single base substitution A G intron_variant BRCA-EU X 19787786 19787786 single base substitution G T intron_variant BRCA-EU X 19787981 19787981 single base substitution G A intron_variant BRCA-EU X 19788895 19788895 single base substitution T A intron_variant BRCA-EU X 19789574 19789574 single base substitution G C intron_variant BRCA-EU X 19789766 19789766 single base substitution G C intron_variant BRCA-EU X 19789950 19789950 single base substitution C G intron_variant BRCA-EU X 19790233 19790233 deletion of <=200bp A - intron_variant BRCA-EU X 19790602 19790602 insertion of <=200bp - T intron_variant BRCA-EU X 19793983 19793983 single base substitution C T intron_variant BRCA-EU X 19795078 19795078 single base substitution G A intron_variant BRCA-EU X 19795483 19795483 single base substitution G A intron_variant BRCA-EU X 19796073 19796073 single base substitution G T intron_variant BRCA-EU X 19796608 19796608 single base substitution G T intron_variant BRCA-EU X 19796716 19796716 single base substitution G T intron_variant BRCA-EU X 19800169 19800169 single base substitution G T intron_variant BRCA-EU X 19800610 19800610 single base substitution G A intron_variant BRCA-EU X 19800933 19800933 single base substitution T A intron_variant BRCA-EU X 19801382 19801382 single base substitution T A intron_variant BRCA-EU X 19803938 19803938 single base substitution C T intron_variant BRCA-EU X 19804007 19804007 single base substitution A T intron_variant BRCA-EU X 19804177 19804177 single base substitution G A intron_variant BRCA-EU X 19804320 19804320 single base substitution G C intron_variant BRCA-EU X 19804716 19804716 single base substitution G T intron_variant BRCA-EU X 19805164 19805164 single base substitution G A intron_variant BRCA-EU X 19805976 19805976 single base substitution G A intron_variant BRCA-EU X 19809433 19809433 single base substitution C A intron_variant BRCA-EU X 19809876 19809876 single base substitution G T intron_variant BRCA-EU X 19810032 19810032 single base substitution G A intron_variant BRCA-EU X 19810085 19810085 single base substitution T C intron_variant BRCA-EU X 19811505 19811505 single base substitution C T intron_variant BRCA-EU X 19813741 19813741 single base substitution C G intron_variant BRCA-EU X 19815651 19815651 single base substitution G A intron_variant BRCA-EU X 19815773 19815773 single base substitution G T intron_variant BRCA-EU X 19817798 19817798 single base substitution T G intron_variant BRCA-EU X 19817798 19817798 single base substitution T G missense_variant E2A 5A>C BRCA-EU X 19819202 19819202 single base substitution A G intron_variant BRCA-EU X 19819202 19819202 single base substitution A G upstream_gene_variant BRCA-EU X 19819968 19819968 single base substitution C T intron_variant BRCA-EU X 19819968 19819968 single base substitution C T upstream_gene_variant BRCA-EU X 19820972 19820972 single base substitution G C intron_variant BRCA-EU X 19820972 19820972 single base substitution G C upstream_gene_variant BRCA-EU X 19821726 19821727 deletion of <=200bp AG - intron_variant BRCA-EU X 19821726 19821727 deletion of <=200bp AG - upstream_gene_variant BRCA-EU X 19821826 19821826 single base substitution G A intron_variant BRCA-EU X 19821826 19821826 single base substitution G A upstream_gene_variant BRCA-EU X 19822273 19822273 single base substitution G C intron_variant BRCA-EU X 19822273 19822273 single base substitution G C upstream_gene_variant BRCA-EU X 19823949 19823949 single base substitution T C intron_variant BRCA-EU X 19824461 19824461 single base substitution C A intron_variant BRCA-EU X 19825003 19825003 single base substitution C G intron_variant BRCA-EU X 19825507 19825507 single base substitution C T intron_variant BRCA-EU X 19825567 19825567 single base substitution G A intron_variant BRCA-EU X 19826454 19826454 deletion of <=200bp T - intron_variant BRCA-EU X 19826479 19826479 single base substitution G A intron_variant BRCA-EU X 19826816 19826816 single base substitution C G intron_variant BRCA-EU X 19829747 19829747 single base substitution T A intron_variant BRCA-EU X 19829762 19829762 single base substitution A C intron_variant BRCA-EU X 19831075 19831076 deletion of <=200bp AG - intron_variant BRCA-EU X 19831816 19831816 single base substitution G A intron_variant BRCA-EU X 19832365 19832365 deletion of <=200bp C - intron_variant BRCA-EU X 19835104 19835104 single base substitution C A intron_variant BRCA-EU X 19836909 19836909 deletion of <=200bp T - intron_variant BRCA-EU X 19836909 19836909 insertion of <=200bp - T intron_variant BRCA-EU X 19836948 19836948 single base substitution G A intron_variant BRCA-EU X 19837084 19837084 single base substitution C G intron_variant BRCA-EU X 19837275 19837275 single base substitution A C intron_variant BRCA-EU X 19837291 19837291 single base substitution C A intron_variant BRCA-EU X 19837337 19837337 single base substitution T A intron_variant BRCA-EU X 19838642 19838642 single base substitution C T intron_variant BRCA-EU X 19838728 19838728 single base substitution T C intron_variant BRCA-EU X 19839307 19839307 single base substitution G A intron_variant BRCA-EU X 19839570 19839570 single base substitution C G intron_variant BRCA-EU X 19839890 19839890 single base substitution G A intron_variant BRCA-EU X 19839923 19839923 single base substitution C T intron_variant BRCA-EU X 19839985 19839985 single base substitution G A intron_variant BRCA-EU X 19841317 19841317 single base substitution G A intron_variant BRCA-EU X 19843086 19843086 single base substitution T A intron_variant BRCA-EU X 19845108 19845108 single base substitution G C intron_variant BRCA-EU X 19845221 19845221 single base substitution C G intron_variant BRCA-EU X 19845509 19845509 single base substitution C T intron_variant BRCA-EU X 19846174 19846174 single base substitution G C intron_variant BRCA-EU X 19846557 19846557 single base substitution A G intron_variant BRCA-EU X 19846688 19846688 single base substitution G A intron_variant BRCA-EU X 19846729 19846729 single base substitution G A intron_variant BRCA-EU X 19846958 19846958 single base substitution C G intron_variant BRCA-EU X 19851301 19851301 single base substitution C T intron_variant BRCA-EU X 19852326 19852326 single base substitution C T intron_variant BRCA-EU X 19853102 19853102 single base substitution G C intron_variant BRCA-EU X 19853736 19853736 single base substitution G A intron_variant BRCA-EU X 19853790 19853790 single base substitution A G intron_variant BRCA-EU X 19854785 19854785 single base substitution A G intron_variant BRCA-EU X 19856496 19856496 single base substitution T A intron_variant BRCA-EU X 19856945 19856945 single base substitution C T intron_variant BRCA-EU X 19856988 19856988 single base substitution G C intron_variant BRCA-EU X 19857457 19857457 single base substitution A T intron_variant BRCA-EU X 19858003 19858003 single base substitution A C intron_variant BRCA-EU X 19858049 19858049 single base substitution C A intron_variant BRCA-EU X 19859022 19859022 single base substitution C T intron_variant BRCA-EU X 19861597 19861597 single base substitution C T intron_variant BRCA-EU X 19861781 19861781 single base substitution G A intron_variant BRCA-EU X 19862605 19862605 single base substitution G A intron_variant BRCA-EU X 19863595 19863595 single base substitution C G intron_variant BRCA-EU X 19863793 19863793 single base substitution A C intron_variant BRCA-EU X 19863946 19863946 single base substitution T G intron_variant BRCA-EU X 19864531 19864531 deletion of <=200bp T - intron_variant BRCA-EU X 19867284 19867285 deletion of <=200bp GT - intron_variant BRCA-EU X 19867544 19867544 single base substitution C T intron_variant BRCA-EU X 19868077 19868077 single base substitution G A intron_variant BRCA-EU X 19869280 19869280 single base substitution G T intron_variant BRCA-EU X 19870611 19870611 single base substitution C G intron_variant BRCA-EU X 19870983 19870983 single base substitution C G intron_variant BRCA-EU X 19871005 19871005 deletion of <=200bp A - intron_variant BRCA-EU X 19871415 19871415 single base substitution A G intron_variant BRCA-EU X 19871818 19871818 single base substitution C T intron_variant BRCA-EU X 19871837 19871837 single base substitution T A intron_variant BRCA-EU X 19871879 19871879 single base substitution G A intron_variant BRCA-EU X 19871952 19871952 single base substitution C T intron_variant BRCA-EU X 19873199 19873199 single base substitution T G intron_variant BRCA-EU X 19874239 19874239 single base substitution A T intron_variant BRCA-EU X 19875044 19875044 single base substitution C G intron_variant BRCA-EU X 19875222 19875222 single base substitution G C intron_variant BRCA-EU X 19875600 19875600 single base substitution G T intron_variant BRCA-EU X 19875609 19875609 single base substitution G A intron_variant BRCA-EU X 19875648 19875648 single base substitution G A intron_variant BRCA-EU X 19875660 19875660 single base substitution G A intron_variant BRCA-EU X 19875857 19875857 single base substitution C A intron_variant BRCA-EU X 19875970 19875970 single base substitution C G intron_variant BRCA-EU X 19876344 19876344 single base substitution G C intron_variant BRCA-EU X 19877111 19877111 single base substitution A C intron_variant BRCA-EU X 19878146 19878146 single base substitution G T intron_variant BRCA-EU X 19878935 19878935 deletion of <=200bp A - intron_variant BRCA-EU X 19880558 19880558 single base substitution G T intron_variant BRCA-EU X 19880678 19880678 single base substitution G A intron_variant BRCA-EU X 19880703 19880703 single base substitution T C intron_variant BRCA-EU X 19881356 19881356 single base substitution C T intron_variant BRCA-EU X 19881831 19881831 insertion of <=200bp - C intron_variant BRCA-EU X 19882099 19882099 single base substitution G T intron_variant BRCA-EU X 19882223 19882223 single base substitution T C intron_variant BRCA-EU X 19882225 19882226 deletion of <=200bp AA - intron_variant BRCA-EU X 19882800 19882800 single base substitution G A intron_variant BRCA-EU X 19882969 19882969 single base substitution G A intron_variant BRCA-EU X 19883911 19883911 insertion of <=200bp - A intron_variant BRCA-EU X 19884020 19884020 single base substitution G A intron_variant BRCA-EU X 19884063 19884063 single base substitution T G intron_variant BRCA-EU X 19884230 19884230 single base substitution G A intron_variant BRCA-EU X 19884344 19884344 single base substitution T G intron_variant BRCA-EU X 19884470 19884470 single base substitution C T intron_variant BRCA-EU X 19884794 19884794 single base substitution C T intron_variant BRCA-EU X 19885316 19885316 single base substitution G A intron_variant BRCA-EU X 19885871 19885871 single base substitution T C intron_variant BRCA-EU X 19885872 19885872 single base substitution C T intron_variant BRCA-EU X 19886322 19886322 single base substitution C G intron_variant BRCA-EU X 19886954 19886954 single base substitution G A intron_variant BRCA-EU X 19888783 19888783 single base substitution A T intron_variant BRCA-EU X 19889278 19889278 single base substitution C G intron_variant BRCA-EU X 19889432 19889432 single base substitution G A intron_variant BRCA-EU X 19890568 19890568 single base substitution T A intron_variant BRCA-EU X 19891573 19891573 single base substitution G A intron_variant BRCA-EU X 19891991 19891991 single base substitution A G intron_variant BRCA-EU X 19893051 19893051 single base substitution G A intron_variant BRCA-EU X 19893470 19893470 single base substitution C A intron_variant BRCA-EU X 19894338 19894338 single base substitution G A intron_variant BRCA-EU X 19894374 19894374 single base substitution G A intron_variant BRCA-EU X 19894963 19894963 single base substitution C T intron_variant BRCA-EU X 19895036 19895036 single base substitution T G intron_variant BRCA-EU X 19895894 19895894 single base substitution A G intron_variant BRCA-EU X 19896452 19896452 single base substitution C T intron_variant BRCA-EU X 19898057 19898057 single base substitution G A intron_variant BRCA-EU X 19898067 19898067 single base substitution G T intron_variant BRCA-EU X 19898320 19898320 single base substitution T C intron_variant BRCA-EU X 19899217 19899217 single base substitution G C intron_variant BRCA-EU X 19899413 19899413 single base substitution G C intron_variant BRCA-EU X 19900070 19900070 single base substitution T A intron_variant BRCA-EU X 19900176 19900176 single base substitution G A intron_variant BRCA-EU X 19900563 19900563 single base substitution G A intron_variant BRCA-EU X 19900724 19900724 single base substitution G A intron_variant BRCA-EU X 19900797 19900797 single base substitution C T intron_variant BRCA-EU X 19901390 19901390 single base substitution G A intron_variant BRCA-EU X 19902148 19902148 single base substitution G C intron_variant BRCA-EU X 19902880 19902880 single base substitution T A intron_variant BRCA-EU X 19903277 19903277 single base substitution A T intron_variant BRCA-EU X 19903805 19903805 deletion of <=200bp A - intron_variant BRCA-EU X 19904834 19904834 single base substitution G A intron_variant BRCA-EU X 19905180 19905180 single base substitution G A intron_variant BRCA-EU X 19905679 19905690 deletion of <=200bp GGCTGCGCCGGG - 5_prime_UTR_variant BRCA-EU X 19905679 19905690 deletion of <=200bp GGCTGCGCCGGG - upstream_gene_variant BRCA-EU X 19905902 19905902 single base substitution G C upstream_gene_variant BRCA-EU X 19906898 19906898 single base substitution G A upstream_gene_variant BRCA-EU X 19907423 19907423 single base substitution C T upstream_gene_variant BRCA-EU X 19907630 19907630 single base substitution G A upstream_gene_variant BRCA-EU X 19908007 19908007 single base substitution T C upstream_gene_variant BRCA-EU X 19908096 19908096 single base substitution G A upstream_gene_variant BRCA-EU X 19908259 19908259 single base substitution A C upstream_gene_variant BRCA-EU X 19908679 19908679 single base substitution C G upstream_gene_variant BRCA-EU X 19909050 19909050 single base substitution G A upstream_gene_variant BRCA-EU X 19909235 19909235 single base substitution C A upstream_gene_variant BRCA-EU X 19909769 19909769 single base substitution C G upstream_gene_variant BRCA-EU X 19910059 19910059 single base substitution C G upstream_gene_variant BRCA-EU X 19910383 19910390 deletion of <=200bp ATGGAGAA - upstream_gene_variant BRCA-FR X 19548023 19548023 single base substitution G T downstream_gene_variant BRCA-FR X 19553321 19553321 single base substitution C T 3_prime_UTR_variant BRCA-FR X 19553321 19553321 single base substitution C T downstream_gene_variant BRCA-FR X 19554055 19554055 single base substitution G C 3_prime_UTR_variant BRCA-FR X 19554055 19554055 single base substitution G C downstream_gene_variant BRCA-FR X 19567379 19567379 single base substitution T A intron_variant BRCA-FR X 19568998 19568998 single base substitution A G intron_variant BRCA-FR X 19573882 19573882 single base substitution G A intron_variant BRCA-FR X 19576406 19576406 single base substitution G A intron_variant BRCA-FR X 19582306 19582306 single base substitution G C intron_variant BRCA-FR X 19582588 19582588 single base substitution C T intron_variant BRCA-FR X 19585551 19585551 single base substitution C T intron_variant BRCA-FR X 19586616 19586616 single base substitution A G intron_variant BRCA-FR X 19586673 19586673 single base substitution A G intron_variant BRCA-FR X 19588317 19588317 single base substitution C T intron_variant BRCA-FR X 19588821 19588821 single base substitution C A intron_variant BRCA-FR X 19588946 19588946 single base substitution C T intron_variant BRCA-FR X 19595124 19595124 single base substitution G A intron_variant BRCA-FR X 19597776 19597776 single base substitution T G intron_variant BRCA-FR X 19608585 19608585 single base substitution G A downstream_gene_variant BRCA-FR X 19608585 19608585 single base substitution G A intron_variant BRCA-FR X 19610297 19610297 single base substitution A C intron_variant BRCA-FR X 19612792 19612792 single base substitution G T intron_variant BRCA-FR X 19614473 19614473 single base substitution A T intron_variant BRCA-FR X 19617502 19617502 single base substitution G C intron_variant BRCA-FR X 19620999 19620999 single base substitution A C intron_variant BRCA-FR X 19624542 19624542 single base substitution A G intron_variant BRCA-FR X 19629633 19629633 single base substitution G A intron_variant BRCA-FR X 19630232 19630232 single base substitution A T intron_variant BRCA-FR X 19630259 19630259 single base substitution G A intron_variant BRCA-FR X 19638673 19638673 single base substitution C G intron_variant BRCA-FR X 19638687 19638687 single base substitution G C intron_variant BRCA-FR X 19640419 19640419 single base substitution G C intron_variant BRCA-FR X 19641053 19641053 single base substitution C T intron_variant BRCA-FR X 19642500 19642500 single base substitution G C intron_variant BRCA-FR X 19642713 19642713 single base substitution G C intron_variant BRCA-FR X 19649896 19649896 single base substitution C T intron_variant BRCA-FR X 19651380 19651380 single base substitution T C intron_variant BRCA-FR X 19654444 19654444 single base substitution C G intron_variant BRCA-FR X 19658302 19658302 single base substitution A T intron_variant BRCA-FR X 19664017 19664017 single base substitution A G intron_variant BRCA-FR X 19664487 19664487 single base substitution G T intron_variant BRCA-FR X 19673600 19673600 single base substitution G T intron_variant BRCA-FR X 19675061 19675061 single base substitution G A intron_variant BRCA-FR X 19675418 19675418 single base substitution G C intron_variant BRCA-FR X 19679252 19679252 single base substitution G C intron_variant BRCA-FR X 19697534 19697534 single base substitution A G downstream_gene_variant BRCA-FR X 19697534 19697534 single base substitution A G intron_variant BRCA-FR X 19701078 19701078 single base substitution G A downstream_gene_variant BRCA-FR X 19701078 19701078 single base substitution G A intron_variant BRCA-FR X 19703571 19703571 single base substitution G A intron_variant BRCA-FR X 19713103 19713103 single base substitution C A intron_variant BRCA-FR X 19718239 19718239 single base substitution G A intron_variant BRCA-FR X 19718239 19718239 single base substitution G A upstream_gene_variant BRCA-FR X 19724070 19724070 single base substitution C T intron_variant BRCA-FR X 19731969 19731969 single base substitution T C intron_variant BRCA-FR X 19736518 19736518 single base substitution C T intron_variant BRCA-FR X 19738644 19738644 single base substitution G T intron_variant BRCA-FR X 19741055 19741055 single base substitution C T intron_variant BRCA-FR X 19746587 19746587 single base substitution T A intron_variant BRCA-FR X 19758757 19758757 single base substitution G C intron_variant BRCA-FR X 19760365 19760365 single base substitution C A intron_variant BRCA-FR X 19760365 19760365 single base substitution C A upstream_gene_variant BRCA-FR X 19761358 19761358 single base substitution C G intron_variant BRCA-FR X 19761358 19761358 single base substitution C G upstream_gene_variant BRCA-FR X 19765238 19765238 single base substitution G A intron_variant BRCA-FR X 19765238 19765238 single base substitution G A upstream_gene_variant BRCA-FR X 19766016 19766016 single base substitution C T intron_variant BRCA-FR X 19766016 19766016 single base substitution C T upstream_gene_variant BRCA-FR X 19776737 19776737 single base substitution C T intron_variant BRCA-FR X 19783657 19783657 single base substitution T A intron_variant BRCA-FR X 19789766 19789766 single base substitution G C intron_variant BRCA-FR X 19796608 19796608 single base substitution G T intron_variant BRCA-FR X 19796944 19796944 single base substitution A G intron_variant BRCA-FR X 19800169 19800169 single base substitution G T intron_variant BRCA-FR X 19808251 19808251 single base substitution C T intron_variant BRCA-FR X 19818412 19818412 single base substitution T C intron_variant BRCA-FR X 19818412 19818412 single base substitution T C upstream_gene_variant BRCA-FR X 19819968 19819968 single base substitution C T intron_variant BRCA-FR X 19819968 19819968 single base substitution C T upstream_gene_variant BRCA-FR X 19822273 19822273 single base substitution G C intron_variant BRCA-FR X 19822273 19822273 single base substitution G C upstream_gene_variant BRCA-FR X 19826479 19826479 single base substitution G A intron_variant BRCA-FR X 19826816 19826816 single base substitution C G intron_variant BRCA-FR X 19827142 19827142 single base substitution C T intron_variant BRCA-FR X 19837084 19837084 single base substitution C G intron_variant BRCA-FR X 19839307 19839307 single base substitution G A intron_variant BRCA-FR X 19839890 19839890 single base substitution G A intron_variant BRCA-FR X 19841317 19841317 single base substitution G A intron_variant BRCA-FR X 19853102 19853102 single base substitution G C intron_variant BRCA-FR X 19856945 19856945 single base substitution C T intron_variant BRCA-FR X 19863595 19863595 single base substitution C G intron_variant BRCA-FR X 19869280 19869280 single base substitution G T intron_variant BRCA-FR X 19870437 19870437 single base substitution A T intron_variant BRCA-FR X 19871879 19871879 single base substitution G A intron_variant BRCA-FR X 19874238 19874238 single base substitution T A intron_variant BRCA-FR X 19875222 19875222 single base substitution G C intron_variant BRCA-FR X 19875660 19875660 single base substitution G A intron_variant BRCA-FR X 19875695 19875695 single base substitution C A intron_variant BRCA-FR X 19881356 19881356 single base substitution C T intron_variant BRCA-FR X 19884230 19884230 single base substitution G A intron_variant BRCA-FR X 19885871 19885871 single base substitution T C intron_variant BRCA-FR X 19889278 19889278 single base substitution C G intron_variant BRCA-FR X 19889432 19889432 single base substitution G A intron_variant BRCA-FR X 19891047 19891047 single base substitution C A intron_variant BRCA-FR X 19892732 19892732 single base substitution G A intron_variant BRCA-FR X 19894374 19894374 single base substitution G A intron_variant BRCA-FR X 19894963 19894963 single base substitution C T intron_variant BRCA-FR X 19895036 19895036 single base substitution T G intron_variant BRCA-FR X 19896452 19896452 single base substitution C T intron_variant BRCA-FR X 19900176 19900176 single base substitution G A intron_variant BRCA-FR X 19909260 19909260 single base substitution G A upstream_gene_variant BRCA-UK X 19568183 19568183 single base substitution G T missense_variant S207Y 620C>A BRCA-UK X 19568183 19568183 single base substitution G T missense_variant S230Y 689C>A BRCA-UK X 19568183 19568183 single base substitution G T missense_variant S431Y 1292C>A BRCA-UK X 19568183 19568183 single base substitution G T missense_variant S448Y 1343C>A BRCA-UK X 19568183 19568183 single base substitution G T missense_variant S468Y 1403C>A BRCA-UK X 19594187 19594187 single base substitution G C intron_variant BRCA-UK X 19597292 19597292 single base substitution G A intron_variant BRCA-UK X 19597567 19597567 single base substitution G C intron_variant BRCA-UK X 19624233 19624233 single base substitution G C intron_variant BRCA-UK X 19627841 19627841 single base substitution C G intron_variant BRCA-UK X 19633936 19633936 single base substitution G A intron_variant BRCA-UK X 19702129 19702129 single base substitution C T intron_variant BRCA-UK X 19702129 19702129 single base substitution C T missense_variant G127S 379G>A BRCA-UK X 19702129 19702129 single base substitution C T missense_variant G143S 427G>A BRCA-UK X 19702129 19702129 single base substitution C T missense_variant G160S 478G>A BRCA-UK X 19702129 19702129 single base substitution C T missense_variant G180S 538G>A BRCA-UK X 19702129 19702129 single base substitution C T missense_variant G224S 670G>A BRCA-UK X 19702129 19702129 single base substitution C T missense_variant G88S 262G>A BRCA-UK X 19725804 19725804 single base substitution G C intron_variant BRCA-UK X 19727164 19727164 single base substitution C G intron_variant BRCA-UK X 19728150 19728150 single base substitution C T intron_variant BRCA-UK X 19729393 19729393 single base substitution G A intron_variant BRCA-UK X 19744973 19744973 single base substitution G C intron_variant BRCA-UK X 19750298 19750298 single base substitution G C intron_variant BRCA-UK X 19754940 19754940 single base substitution A G intron_variant BRCA-UK X 19769381 19769381 single base substitution G C intron_variant BRCA-UK X 19769381 19769381 single base substitution G C upstream_gene_variant BRCA-UK X 19775009 19775009 single base substitution C T intron_variant BRCA-UK X 19783666 19783666 single base substitution T A intron_variant BRCA-UK X 19846239 19846239 single base substitution G C intron_variant BRCA-UK X 19847643 19847643 single base substitution G A intron_variant BRCA-UK X 19851301 19851301 single base substitution C T intron_variant BRCA-UK X 19862250 19862250 single base substitution G A intron_variant BRCA-UK X 19875044 19875044 single base substitution C G intron_variant BRCA-UK X 19877813 19877813 single base substitution G C intron_variant BRCA-UK X 19884344 19884344 single base substitution T G intron_variant BRCA-UK X 19887812 19887812 single base substitution G C intron_variant BRCA-UK X 19890796 19890796 single base substitution A G intron_variant BRCA-UK X 19908259 19908259 single base substitution A C upstream_gene_variant BRCA-UK X 19910059 19910059 single base substitution C G upstream_gene_variant BRCA-US X 19560045 19560045 single base substitution C A missense_variant Q369H 1107G>T BRCA-US X 19560045 19560045 single base substitution C A missense_variant Q392H 1176G>T BRCA-US X 19560045 19560045 single base substitution C A missense_variant Q593H 1779G>T BRCA-US X 19560045 19560045 single base substitution C A missense_variant Q610H 1830G>T BRCA-US X 19560045 19560045 single base substitution C A missense_variant Q630H 1890G>T BRCA-US X 19560229 19560229 single base substitution G A missense_variant A308V 923C>T BRCA-US X 19560229 19560229 single base substitution G A missense_variant A331V 992C>T BRCA-US X 19560229 19560229 single base substitution G A missense_variant A532V 1595C>T BRCA-US X 19560229 19560229 single base substitution G A missense_variant A549V 1646C>T BRCA-US X 19560229 19560229 single base substitution G A missense_variant A569V 1706C>T BRCA-US X 19564084 19564084 single base substitution C T missense_variant V266M 796G>A BRCA-US X 19564084 19564084 single base substitution C T missense_variant V289M 865G>A BRCA-US X 19564084 19564084 single base substitution C T missense_variant V490M 1468G>A BRCA-US X 19564084 19564084 single base substitution C T missense_variant V507M 1519G>A BRCA-US X 19564084 19564084 single base substitution C T missense_variant V527M 1579G>A BRCA-US X 19568118 19568118 single base substitution G A missense_variant R229W 685C>T BRCA-US X 19568118 19568118 single base substitution G A missense_variant R252W 754C>T BRCA-US X 19568118 19568118 single base substitution G A missense_variant R453W 1357C>T BRCA-US X 19568118 19568118 single base substitution G A missense_variant R470W 1408C>T BRCA-US X 19568118 19568118 single base substitution G A missense_variant R490W 1468C>T BRCA-US X 19606866 19606866 single base substitution A G downstream_gene_variant BRCA-US X 19606866 19606866 single base substitution A G exon_variant BRCA-US X 19606866 19606866 single base substitution A G missense_variant I137T 410T>C BRCA-US X 19606866 19606866 single base substitution A G missense_variant I160T 479T>C BRCA-US X 19606866 19606866 single base substitution A G missense_variant I361T 1082T>C BRCA-US X 19606866 19606866 single base substitution A G missense_variant I378T 1133T>C BRCA-US X 19606866 19606866 single base substitution A G missense_variant I398T 1193T>C BRCA-US X 19606866 19606866 single base substitution A G missense_variant I442T 1325T>C BRCA-US X 19701973 19701973 single base substitution C T intron_variant BRCA-US X 19701973 19701973 single base substitution C T missense_variant E140K 418G>A BRCA-US X 19701973 19701973 single base substitution C T missense_variant E179K 535G>A BRCA-US X 19701973 19701973 single base substitution C T missense_variant E195K 583G>A BRCA-US X 19701973 19701973 single base substitution C T missense_variant E212K 634G>A BRCA-US X 19701973 19701973 single base substitution C T missense_variant E232K 694G>A BRCA-US X 19701973 19701973 single base substitution C T missense_variant E276K 826G>A BRCA-US X 19702029 19702029 single base substitution A C intron_variant BRCA-US X 19702029 19702029 single base substitution A C missense_variant V121G 362T>G BRCA-US X 19702029 19702029 single base substitution A C missense_variant V160G 479T>G BRCA-US X 19702029 19702029 single base substitution A C missense_variant V176G 527T>G BRCA-US X 19702029 19702029 single base substitution A C missense_variant V193G 578T>G BRCA-US X 19702029 19702029 single base substitution A C missense_variant V213G 638T>G BRCA-US X 19702029 19702029 single base substitution A C missense_variant V257G 770T>G BRCA-US X 19713836 19713836 single base substitution A C synonymous_variant G101G 303T>G BRCA-US X 19713836 19713836 single base substitution A C synonymous_variant G138G 414T>G BRCA-US X 19713836 19713836 single base substitution A C synonymous_variant G46G 138T>G BRCA-US X 19713836 19713836 single base substitution A C synonymous_variant G74G 222T>G BRCA-US X 19713836 19713836 single base substitution A C synonymous_variant G85G 255T>G BRCA-US X 19713836 19713836 single base substitution A C upstream_gene_variant BRCA-US X 19764460 19764460 single base substitution T G missense_variant T24P 70A>C BRCA-US X 19764460 19764460 single base substitution T G missense_variant T35P 103A>C BRCA-US X 19764460 19764460 single base substitution T G missense_variant T51P 151A>C BRCA-US X 19764460 19764460 single base substitution T G missense_variant T88P 262A>C BRCA-US X 19764522 19764522 single base substitution T C missense_variant N14S 41A>G BRCA-US X 19764522 19764522 single base substitution T C missense_variant N30S 89A>G BRCA-US X 19764522 19764522 single base substitution T C missense_variant N3S 8A>G BRCA-US X 19764522 19764522 single base substitution T C missense_variant N67S 200A>G BRCA-US X 19854375 19854375 single base substitution G A synonymous_variant Y10Y 30C>T BTCA-JP X 19607000 19607000 deletion of <=200bp A - downstream_gene_variant BTCA-JP X 19607000 19607000 deletion of <=200bp A - intron_variant BTCA-JP X 19688890 19688890 single base substitution A T intron_variant BTCA-JP X 19688890 19688890 single base substitution A T upstream_gene_variant BTCA-JP X 19705599 19705599 single base substitution T C intron_variant BTCA-JP X 19705605 19705605 single base substitution T A intron_variant BTCA-JP X 19713114 19713114 single base substitution T C intron_variant BTCA-JP X 19713114 19713114 single base substitution T C splice_region_variant CESC-US X 19568181 19568181 single base substitution C T missense_variant V208M 622G>A CESC-US X 19568181 19568181 single base substitution C T missense_variant V231M 691G>A CESC-US X 19568181 19568181 single base substitution C T missense_variant V432M 1294G>A CESC-US X 19568181 19568181 single base substitution C T missense_variant V449M 1345G>A CESC-US X 19568181 19568181 single base substitution C T missense_variant V469M 1405G>A CESC-US X 19626095 19626095 single base substitution G A exon_variant CESC-US X 19626095 19626095 single base substitution G A synonymous_variant F285F 855C>T CESC-US X 19626095 19626095 single base substitution G A synonymous_variant F302F 906C>T CESC-US X 19626095 19626095 single base substitution G A synonymous_variant F322F 966C>T CESC-US X 19626095 19626095 single base substitution G A synonymous_variant F366F 1098C>T CESC-US X 19626095 19626095 single base substitution G A synonymous_variant F61F 183C>T CESC-US X 19626095 19626095 single base substitution G A synonymous_variant F84F 252C>T CESC-US X 19713767 19713767 single base substitution C T exon_variant CESC-US X 19713767 19713767 single base substitution C T synonymous_variant E108E 324G>A CESC-US X 19713767 19713767 single base substitution C T synonymous_variant E124E 372G>A CESC-US X 19713767 19713767 single base substitution C T synonymous_variant E161E 483G>A CESC-US X 19713767 19713767 single base substitution C T synonymous_variant E69E 207G>A CESC-US X 19713767 19713767 single base substitution C T synonymous_variant E97E 291G>A CESC-US X 19764468 19764468 single base substitution G C missense_variant S21C 62C>G CESC-US X 19764468 19764468 single base substitution G C missense_variant S32C 95C>G CESC-US X 19764468 19764468 single base substitution G C missense_variant S48C 143C>G CESC-US X 19764468 19764468 single base substitution G C missense_variant S85C 254C>G CLLE-ES X 19552331 19552331 single base substitution G C 3_prime_UTR_variant CLLE-ES X 19552331 19552331 single base substitution G C downstream_gene_variant CLLE-ES X 19558562 19558562 single base substitution G A intron_variant CLLE-ES X 19592480 19592480 single base substitution A T intron_variant CLLE-ES X 19624462 19624462 single base substitution C T intron_variant CLLE-ES X 19632754 19632754 single base substitution A G intron_variant CLLE-ES X 19642393 19642393 single base substitution A T intron_variant CLLE-ES X 19643234 19643234 single base substitution G C intron_variant CLLE-ES X 19653682 19653682 single base substitution C G intron_variant CLLE-ES X 19674007 19674007 single base substitution G A intron_variant CLLE-ES X 19692195 19692195 single base substitution G A intron_variant CLLE-ES X 19692195 19692195 single base substitution G A upstream_gene_variant CLLE-ES X 19697280 19697280 single base substitution G A downstream_gene_variant CLLE-ES X 19697280 19697280 single base substitution G A intron_variant CLLE-ES X 19719262 19719262 single base substitution A C intron_variant CLLE-ES X 19719309 19719309 single base substitution T C intron_variant CLLE-ES X 19750813 19750813 single base substitution C T intron_variant CLLE-ES X 19757335 19757335 single base substitution T G intron_variant CLLE-ES X 19760490 19760490 single base substitution A G intron_variant CLLE-ES X 19760490 19760490 single base substitution A G upstream_gene_variant CLLE-ES X 19765283 19765283 single base substitution T A intron_variant CLLE-ES X 19765283 19765283 single base substitution T A upstream_gene_variant CLLE-ES X 19766513 19766513 single base substitution A C intron_variant CLLE-ES X 19766513 19766513 single base substitution A C upstream_gene_variant CLLE-ES X 19784571 19784571 single base substitution C T intron_variant CLLE-ES X 19790539 19790539 single base substitution A T intron_variant CLLE-ES X 19809865 19809865 single base substitution T C intron_variant CLLE-ES X 19827659 19827659 single base substitution A G intron_variant CLLE-ES X 19863990 19863990 single base substitution A C intron_variant CLLE-ES X 19878939 19878939 single base substitution A G intron_variant CLLE-ES X 19880866 19880866 single base substitution G A intron_variant CLLE-ES X 19886132 19886132 single base substitution C A intron_variant CLLE-ES X 19896030 19896030 single base substitution C T intron_variant COAD-US X 19560215 19560215 deletion of <=200bp G - frameshift_variant L313 COAD-US X 19560215 19560215 deletion of <=200bp G - frameshift_variant L336 COAD-US X 19560215 19560215 deletion of <=200bp G - frameshift_variant L537 COAD-US X 19560215 19560215 deletion of <=200bp G - frameshift_variant L554 COAD-US X 19560215 19560215 deletion of <=200bp G - frameshift_variant L574 COAD-US X 19568110 19568110 single base substitution C T synonymous_variant P231P 693G>A COAD-US X 19568110 19568110 single base substitution C T synonymous_variant P254P 762G>A COAD-US X 19568110 19568110 single base substitution C T synonymous_variant P455P 1365G>A COAD-US X 19568110 19568110 single base substitution C T synonymous_variant P472P 1416G>A COAD-US X 19568110 19568110 single base substitution C T synonymous_variant P492P 1476G>A COAD-US X 19587274 19587274 single base substitution C A missense_variant S183I 548G>T COAD-US X 19587274 19587274 single base substitution C A missense_variant S206I 617G>T COAD-US X 19587274 19587274 single base substitution C A missense_variant S407I 1220G>T COAD-US X 19587274 19587274 single base substitution C A missense_variant S424I 1271G>T COAD-US X 19587274 19587274 single base substitution C A missense_variant S444I 1331G>T COAD-US X 19764496 19764496 single base substitution C T missense_variant E12K 34G>A COAD-US X 19764496 19764496 single base substitution C T missense_variant E23K 67G>A COAD-US X 19764496 19764496 single base substitution C T missense_variant E39K 115G>A COAD-US X 19764496 19764496 single base substitution C T missense_variant E76K 226G>A COCA-CN X 19560285 19560285 single base substitution C T synonymous_variant P289P 867G>A COCA-CN X 19560285 19560285 single base substitution C T synonymous_variant P312P 936G>A COCA-CN X 19560285 19560285 single base substitution C T synonymous_variant P513P 1539G>A COCA-CN X 19560285 19560285 single base substitution C T synonymous_variant P530P 1590G>A COCA-CN X 19560285 19560285 single base substitution C T synonymous_variant P550P 1650G>A COCA-CN X 19564095 19564095 single base substitution G A missense_variant A262V 785C>T COCA-CN X 19564095 19564095 single base substitution G A missense_variant A285V 854C>T COCA-CN X 19564095 19564095 single base substitution G A missense_variant A486V 1457C>T COCA-CN X 19564095 19564095 single base substitution G A missense_variant A503V 1508C>T COCA-CN X 19564095 19564095 single base substitution G A missense_variant A523V 1568C>T COCA-CN X 19705879 19705879 single base substitution C T intron_variant COCA-CN X 19764369 19764369 single base substitution C A intron_variant COCA-CN X 19764477 19764477 single base substitution G T missense_variant S18Y 53C>A COCA-CN X 19764477 19764477 single base substitution G T missense_variant S29Y 86C>A COCA-CN X 19764477 19764477 single base substitution G T missense_variant S45Y 134C>A COCA-CN X 19764477 19764477 single base substitution G T missense_variant S82Y 245C>A COCA-CN X 19854226 19854226 single base substitution T G intron_variant EOPC-DE X 19553295 19553295 single base substitution C T 3_prime_UTR_variant EOPC-DE X 19553295 19553295 single base substitution C T downstream_gene_variant EOPC-DE X 19565544 19565544 single base substitution G A intron_variant EOPC-DE X 19579682 19579682 single base substitution C T intron_variant EOPC-DE X 19799892 19799892 single base substitution A G intron_variant ESCA-CN X 19613253 19613253 single base substitution C G intron_variant KIRC-US X 19560246 19560246 insertion of <=200bp - G frameshift_variant P302P? KIRC-US X 19560246 19560246 insertion of <=200bp - G frameshift_variant P325P? KIRC-US X 19560246 19560246 insertion of <=200bp - G frameshift_variant P526P? KIRC-US X 19560246 19560246 insertion of <=200bp - G frameshift_variant P543P? KIRC-US X 19560246 19560246 insertion of <=200bp - G frameshift_variant P563P? KIRC-US X 19587268 19587268 single base substitution A T missense_variant L185Q 554T>A KIRC-US X 19587268 19587268 single base substitution A T missense_variant L208Q 623T>A KIRC-US X 19587268 19587268 single base substitution A T missense_variant L409Q 1226T>A KIRC-US X 19587268 19587268 single base substitution A T missense_variant L426Q 1277T>A KIRC-US X 19587268 19587268 single base substitution A T missense_variant L446Q 1337T>A KIRP-US X 19560042 19560042 insertion of <=200bp - T splice_donor_variant KIRP-US X 19626146 19626146 single base substitution G T exon_variant KIRP-US X 19626146 19626146 single base substitution G T synonymous_variant G268G 804C>A KIRP-US X 19626146 19626146 single base substitution G T synonymous_variant G285G 855C>A KIRP-US X 19626146 19626146 single base substitution G T synonymous_variant G305G 915C>A KIRP-US X 19626146 19626146 single base substitution G T synonymous_variant G349G 1047C>A KIRP-US X 19626146 19626146 single base substitution G T synonymous_variant G44G 132C>A KIRP-US X 19626146 19626146 single base substitution G T synonymous_variant G67G 201C>A LAML-KR X 19713132 19713132 single base substitution A G intron_variant LAML-KR X 19713132 19713132 single base substitution A G synonymous_variant F122F 366T>C LAML-KR X 19713132 19713132 single base substitution A G synonymous_variant F186F 558T>C LAML-KR X 19851753 19851753 single base substitution T C intron_variant LAML-KR X 19854342 19854342 single base substitution G A synonymous_variant S21S 63C>T LGG-US X 19764444 19764444 single base substitution T A missense_variant N29I 86A>T LGG-US X 19764444 19764444 single base substitution T A missense_variant N40I 119A>T LGG-US X 19764444 19764444 single base substitution T A missense_variant N56I 167A>T LGG-US X 19764444 19764444 single base substitution T A missense_variant N93I 278A>T LIAD-FR X 19568147 19568147 single base substitution G T missense_variant T219N 656C>A LIAD-FR X 19568147 19568147 single base substitution G T missense_variant T242N 725C>A LIAD-FR X 19568147 19568147 single base substitution G T missense_variant T443N 1328C>A LIAD-FR X 19568147 19568147 single base substitution G T missense_variant T460N 1379C>A LIAD-FR X 19568147 19568147 single base substitution G T missense_variant T480N 1439C>A LICA-FR X 19552089 19552089 single base substitution A T downstream_gene_variant LICA-FR X 19573180 19573180 single base substitution G A intron_variant LICA-FR X 19575047 19575047 single base substitution C A intron_variant LICA-FR X 19586245 19586245 single base substitution C T intron_variant LICA-FR X 19605747 19605747 single base substitution T A downstream_gene_variant LICA-FR X 19605747 19605747 single base substitution T A intron_variant LICA-FR X 19606460 19606460 single base substitution C T 3_prime_UTR_variant LICA-FR X 19606460 19606460 single base substitution C T downstream_gene_variant LICA-FR X 19606460 19606460 single base substitution C T intron_variant LICA-FR X 19623285 19623285 single base substitution C A intron_variant LICA-FR X 19626070 19626070 single base substitution C T exon_variant LICA-FR X 19626070 19626070 single base substitution C T missense_variant E294K 880G>A LICA-FR X 19626070 19626070 single base substitution C T missense_variant E311K 931G>A LICA-FR X 19626070 19626070 single base substitution C T missense_variant E331K 991G>A LICA-FR X 19626070 19626070 single base substitution C T missense_variant E375K 1123G>A LICA-FR X 19626070 19626070 single base substitution C T missense_variant E70K 208G>A LICA-FR X 19626070 19626070 single base substitution C T missense_variant E93K 277G>A LICA-FR X 19671874 19671874 single base substitution G A intron_variant LICA-FR X 19671882 19671882 insertion of <=200bp - AC intron_variant LICA-FR X 19702112 19702112 single base substitution C A intron_variant LICA-FR X 19702112 19702112 single base substitution C A synonymous_variant G132G 396G>T LICA-FR X 19702112 19702112 single base substitution C A synonymous_variant G148G 444G>T LICA-FR X 19702112 19702112 single base substitution C A synonymous_variant G165G 495G>T LICA-FR X 19702112 19702112 single base substitution C A synonymous_variant G185G 555G>T LICA-FR X 19702112 19702112 single base substitution C A synonymous_variant G229G 687G>T LICA-FR X 19702112 19702112 single base substitution C A synonymous_variant G93G 279G>T LICA-FR X 19702113 19702113 single base substitution C G intron_variant LICA-FR X 19702113 19702113 single base substitution C G missense_variant G132A 395G>C LICA-FR X 19702113 19702113 single base substitution C G missense_variant G148A 443G>C LICA-FR X 19702113 19702113 single base substitution C G missense_variant G165A 494G>C LICA-FR X 19702113 19702113 single base substitution C G missense_variant G185A 554G>C LICA-FR X 19702113 19702113 single base substitution C G missense_variant G229A 686G>C LICA-FR X 19702113 19702113 single base substitution C G missense_variant G93A 278G>C LICA-FR X 19703764 19703764 single base substitution T C intron_variant LICA-FR X 19717002 19717005 deletion of <=200bp TGAA - intron_variant LICA-FR X 19717002 19717005 deletion of <=200bp TGAA - upstream_gene_variant LICA-FR X 19724916 19724916 single base substitution T C intron_variant LICA-FR X 19750255 19750255 single base substitution T C intron_variant LICA-FR X 19772794 19772794 single base substitution C T intron_variant LICA-FR X 19774991 19774991 deletion of <=200bp A - intron_variant LICA-FR X 19790015 19790015 single base substitution C T intron_variant LICA-FR X 19808384 19808384 single base substitution C T intron_variant LICA-FR X 19822943 19822943 single base substitution T A intron_variant LIHC-US X 19560151 19560151 single base substitution C T missense_variant G334E 1001G>A LIHC-US X 19560151 19560151 single base substitution C T missense_variant G357E 1070G>A LIHC-US X 19560151 19560151 single base substitution C T missense_variant G558E 1673G>A LIHC-US X 19560151 19560151 single base substitution C T missense_variant G575E 1724G>A LIHC-US X 19560151 19560151 single base substitution C T missense_variant G595E 1784G>A LINC-JP X 19560066 19560066 single base substitution G T synonymous_variant I362I 1086C>A LINC-JP X 19560066 19560066 single base substitution G T synonymous_variant I385I 1155C>A LINC-JP X 19560066 19560066 single base substitution G T synonymous_variant I586I 1758C>A LINC-JP X 19560066 19560066 single base substitution G T synonymous_variant I603I 1809C>A LINC-JP X 19560066 19560066 single base substitution G T synonymous_variant I623I 1869C>A LINC-JP X 19560162 19560162 single base substitution G A synonymous_variant F330F 990C>T LINC-JP X 19560162 19560162 single base substitution G A synonymous_variant F353F 1059C>T LINC-JP X 19560162 19560162 single base substitution G A synonymous_variant F554F 1662C>T LINC-JP X 19560162 19560162 single base substitution G A synonymous_variant F571F 1713C>T LINC-JP X 19560162 19560162 single base substitution G A synonymous_variant F591F 1773C>T LINC-JP X 19564174 19564179 deletion of <=200bp AAAGCC - splice_region_variant LINC-JP X 19593981 19593981 single base substitution A C intron_variant LINC-JP X 19605817 19605817 single base substitution T C downstream_gene_variant LINC-JP X 19605817 19605817 single base substitution T C intron_variant LINC-JP X 19612689 19612689 single base substitution C T intron_variant LINC-JP X 19613919 19613919 single base substitution G A intron_variant LINC-JP X 19618970 19618970 deletion of <=200bp A - intron_variant LINC-JP X 19628489 19628489 single base substitution C A intron_variant LINC-JP X 19632329 19632329 single base substitution C T intron_variant LINC-JP X 19637768 19637768 single base substitution C T intron_variant LINC-JP X 19640255 19640255 single base substitution G T intron_variant LINC-JP X 19645711 19645711 single base substitution G A intron_variant LINC-JP X 19651351 19651351 single base substitution C T intron_variant LINC-JP X 19658425 19658425 single base substitution A G intron_variant LINC-JP X 19662986 19662986 single base substitution G C downstream_gene_variant LINC-JP X 19662986 19662986 single base substitution G C intron_variant LINC-JP X 19663800 19663800 single base substitution G T intron_variant LINC-JP X 19677960 19677960 single base substitution C T intron_variant LINC-JP X 19698353 19698353 single base substitution C T downstream_gene_variant LINC-JP X 19698353 19698353 single base substitution C T intron_variant LINC-JP X 19701896 19701896 insertion of <=200bp - A downstream_gene_variant LINC-JP X 19701896 19701896 insertion of <=200bp - A intron_variant LINC-JP X 19713720 19713720 single base substitution A C intron_variant LINC-JP X 19719723 19719723 single base substitution C T intron_variant LINC-JP X 19720593 19720593 single base substitution G T intron_variant LINC-JP X 19724973 19724973 single base substitution T C intron_variant LINC-JP X 19746078 19746078 single base substitution C A intron_variant LINC-JP X 19770906 19770906 single base substitution T C intron_variant LINC-JP X 19773564 19773564 single base substitution A C intron_variant LINC-JP X 19779770 19779770 single base substitution C G intron_variant LINC-JP X 19796605 19796605 single base substitution T A intron_variant LINC-JP X 19817796 19817796 single base substitution C A intron_variant LINC-JP X 19817796 19817796 single base substitution C A missense_variant V3F 7G>T LINC-JP X 19833361 19833361 single base substitution G A intron_variant LINC-JP X 19854428 19854428 single base substitution T C intron_variant LINC-JP X 19855913 19855913 single base substitution G C intron_variant LINC-JP X 19866514 19866514 single base substitution T A intron_variant LINC-JP X 19870871 19870871 single base substitution C T intron_variant LINC-JP X 19870963 19870963 single base substitution A T intron_variant LIRI-JP X 19548173 19548173 single base substitution C T downstream_gene_variant LIRI-JP X 19548428 19548428 single base substitution C A downstream_gene_variant LIRI-JP X 19548652 19548652 single base substitution C G downstream_gene_variant LIRI-JP X 19552114 19552114 single base substitution T C 3_prime_UTR_variant LIRI-JP X 19552114 19552114 single base substitution T C downstream_gene_variant LIRI-JP X 19552144 19552144 single base substitution A C 3_prime_UTR_variant LIRI-JP X 19552144 19552144 single base substitution A C downstream_gene_variant LIRI-JP X 19556280 19556280 single base substitution T C intron_variant LIRI-JP X 19563843 19563843 single base substitution A G intron_variant LIRI-JP X 19564488 19564488 single base substitution A G intron_variant LIRI-JP X 19567074 19567074 single base substitution T G intron_variant LIRI-JP X 19568336 19568336 single base substitution C T intron_variant LIRI-JP X 19569652 19569652 single base substitution C A intron_variant LIRI-JP X 19570459 19570459 single base substitution G T intron_variant LIRI-JP X 19570909 19570909 single base substitution A G intron_variant LIRI-JP X 19573367 19573367 single base substitution T C intron_variant LIRI-JP X 19573896 19573903 deletion of <=200bp CCCCATCT - intron_variant LIRI-JP X 19574342 19574342 single base substitution T C intron_variant LIRI-JP X 19576480 19576480 single base substitution G C intron_variant LIRI-JP X 19576943 19576943 single base substitution A G intron_variant LIRI-JP X 19578504 19578504 single base substitution C G intron_variant LIRI-JP X 19580944 19580944 single base substitution T C intron_variant LIRI-JP X 19591670 19591670 single base substitution G C intron_variant LIRI-JP X 19592777 19592777 single base substitution C T intron_variant LIRI-JP X 19594037 19594037 single base substitution T C intron_variant LIRI-JP X 19596696 19596696 single base substitution C A intron_variant LIRI-JP X 19598756 19598756 single base substitution G C intron_variant LIRI-JP X 19600175 19600175 single base substitution C T intron_variant LIRI-JP X 19601318 19601318 single base substitution C T intron_variant LIRI-JP X 19601659 19601659 single base substitution G T downstream_gene_variant LIRI-JP X 19601659 19601659 single base substitution G T intron_variant LIRI-JP X 19604675 19604675 single base substitution C A downstream_gene_variant LIRI-JP X 19604675 19604675 single base substitution C A intron_variant LIRI-JP X 19606860 19606860 single base substitution G A downstream_gene_variant LIRI-JP X 19606860 19606860 single base substitution G A exon_variant LIRI-JP X 19606860 19606860 single base substitution G A missense_variant P139L 416C>T LIRI-JP X 19606860 19606860 single base substitution G A missense_variant P162L 485C>T LIRI-JP X 19606860 19606860 single base substitution G A missense_variant P363L 1088C>T LIRI-JP X 19606860 19606860 single base substitution G A missense_variant P380L 1139C>T LIRI-JP X 19606860 19606860 single base substitution G A missense_variant P400L 1199C>T LIRI-JP X 19606860 19606860 single base substitution G A missense_variant P444L 1331C>T LIRI-JP X 19611943 19611943 single base substitution A T intron_variant LIRI-JP X 19613804 19613804 single base substitution C T intron_variant LIRI-JP X 19616163 19616163 single base substitution T A intron_variant LIRI-JP X 19620267 19620267 single base substitution T C intron_variant LIRI-JP X 19622520 19622520 single base substitution C A intron_variant LIRI-JP X 19625131 19625131 single base substitution C T intron_variant LIRI-JP X 19632275 19632275 single base substitution T A intron_variant LIRI-JP X 19638043 19638043 single base substitution C T intron_variant LIRI-JP X 19638512 19638512 single base substitution C A intron_variant LIRI-JP X 19638938 19638938 single base substitution C A intron_variant LIRI-JP X 19641990 19641990 single base substitution T C intron_variant LIRI-JP X 19642685 19642685 single base substitution C T intron_variant LIRI-JP X 19643341 19643341 single base substitution T C intron_variant LIRI-JP X 19645303 19645303 single base substitution T C intron_variant LIRI-JP X 19646508 19646508 single base substitution T C intron_variant LIRI-JP X 19647674 19647674 single base substitution C A intron_variant LIRI-JP X 19649631 19649631 single base substitution T C intron_variant LIRI-JP X 19650900 19650900 single base substitution T C intron_variant LIRI-JP X 19654413 19654413 single base substitution T C intron_variant LIRI-JP X 19658349 19658349 single base substitution G T intron_variant LIRI-JP X 19661722 19661722 single base substitution C G downstream_gene_variant LIRI-JP X 19661722 19661722 single base substitution C G intron_variant LIRI-JP X 19663218 19663218 single base substitution A C downstream_gene_variant LIRI-JP X 19663218 19663218 single base substitution A C intron_variant LIRI-JP X 19664744 19664744 single base substitution C T intron_variant LIRI-JP X 19665208 19665208 single base substitution C A intron_variant LIRI-JP X 19665964 19665964 single base substitution T C intron_variant LIRI-JP X 19667176 19667176 single base substitution G A intron_variant LIRI-JP X 19668886 19668886 insertion of <=200bp - G intron_variant LIRI-JP X 19669481 19669481 single base substitution A G intron_variant LIRI-JP X 19669602 19669602 deletion of <=200bp G - intron_variant LIRI-JP X 19670057 19670057 single base substitution G T intron_variant LIRI-JP X 19674537 19674537 single base substitution G A intron_variant LIRI-JP X 19675444 19675444 single base substitution G A intron_variant LIRI-JP X 19676152 19676152 single base substitution C T intron_variant LIRI-JP X 19676685 19676685 single base substitution T C intron_variant LIRI-JP X 19676894 19676894 single base substitution C G intron_variant LIRI-JP X 19676904 19676904 single base substitution T G intron_variant LIRI-JP X 19676953 19676953 single base substitution G A intron_variant LIRI-JP X 19677529 19677529 single base substitution G A intron_variant LIRI-JP X 19679633 19679633 single base substitution C A intron_variant LIRI-JP X 19680759 19680759 single base substitution C T intron_variant LIRI-JP X 19683302 19683302 single base substitution C A intron_variant LIRI-JP X 19683302 19683302 single base substitution C A upstream_gene_variant LIRI-JP X 19683691 19683691 single base substitution T C intron_variant LIRI-JP X 19683691 19683691 single base substitution T C upstream_gene_variant LIRI-JP X 19687436 19687436 single base substitution T C intron_variant LIRI-JP X 19687436 19687436 single base substitution T C upstream_gene_variant LIRI-JP X 19688275 19688275 single base substitution C A intron_variant LIRI-JP X 19691299 19691299 single base substitution C T intron_variant LIRI-JP X 19691299 19691299 single base substitution C T upstream_gene_variant LIRI-JP X 19693831 19693831 single base substitution A G intron_variant LIRI-JP X 19693831 19693831 single base substitution A G upstream_gene_variant LIRI-JP X 19701792 19701792 single base substitution G A downstream_gene_variant LIRI-JP X 19701792 19701792 single base substitution G A intron_variant LIRI-JP X 19703692 19703692 single base substitution G T intron_variant LIRI-JP X 19704423 19704423 single base substitution A T intron_variant LIRI-JP X 19705395 19705395 single base substitution C T intron_variant LIRI-JP X 19706385 19706385 single base substitution A G intron_variant LIRI-JP X 19706537 19706557 deletion of <=200bp GTACTTAAGCATGAGGACACA - intron_variant LIRI-JP X 19709172 19709172 single base substitution T C intron_variant LIRI-JP X 19712387 19712387 single base substitution T C intron_variant LIRI-JP X 19712389 19712389 single base substitution A T intron_variant LIRI-JP X 19712745 19712745 single base substitution C G intron_variant LIRI-JP X 19713598 19713598 single base substitution C T intron_variant LIRI-JP X 19718208 19718208 single base substitution C G intron_variant LIRI-JP X 19718208 19718208 single base substitution C G upstream_gene_variant LIRI-JP X 19722461 19722461 single base substitution T C intron_variant LIRI-JP X 19722703 19722703 single base substitution T C intron_variant LIRI-JP X 19725366 19725366 deletion of <=200bp C - intron_variant LIRI-JP X 19725406 19725406 single base substitution T C intron_variant LIRI-JP X 19727212 19727212 single base substitution T C intron_variant LIRI-JP X 19731713 19731713 single base substitution T A intron_variant LIRI-JP X 19732637 19732637 single base substitution A G intron_variant LIRI-JP X 19734176 19734176 single base substitution T C intron_variant LIRI-JP X 19735989 19735989 single base substitution C T intron_variant LIRI-JP X 19738999 19738999 insertion of <=200bp - T intron_variant LIRI-JP X 19739515 19739515 single base substitution A T intron_variant LIRI-JP X 19742053 19742053 single base substitution C A intron_variant LIRI-JP X 19742872 19742872 single base substitution G T intron_variant LIRI-JP X 19744647 19744647 single base substitution T C intron_variant LIRI-JP X 19746576 19746576 single base substitution C T intron_variant LIRI-JP X 19746885 19746885 single base substitution C A intron_variant LIRI-JP X 19749424 19749424 single base substitution A T intron_variant LIRI-JP X 19749648 19749648 single base substitution G C intron_variant LIRI-JP X 19751584 19751584 single base substitution T A intron_variant LIRI-JP X 19753375 19753375 single base substitution C T intron_variant LIRI-JP X 19757663 19757663 deletion of <=200bp T - intron_variant LIRI-JP X 19760464 19760464 single base substitution T A intron_variant LIRI-JP X 19760464 19760464 single base substitution T A upstream_gene_variant LIRI-JP X 19762142 19762142 single base substitution T C intron_variant LIRI-JP X 19762142 19762142 single base substitution T C upstream_gene_variant LIRI-JP X 19764637 19764637 single base substitution C T intron_variant LIRI-JP X 19764637 19764637 single base substitution C T upstream_gene_variant LIRI-JP X 19765018 19765018 single base substitution T C intron_variant LIRI-JP X 19765018 19765018 single base substitution T C upstream_gene_variant LIRI-JP X 19765822 19765822 single base substitution C T intron_variant LIRI-JP X 19765822 19765822 single base substitution C T upstream_gene_variant LIRI-JP X 19769187 19769187 single base substitution G A intron_variant LIRI-JP X 19769187 19769187 single base substitution G A upstream_gene_variant LIRI-JP X 19770071 19770071 single base substitution G T intron_variant LIRI-JP X 19770071 19770071 single base substitution G T upstream_gene_variant LIRI-JP X 19771461 19771461 single base substitution C T intron_variant LIRI-JP X 19773365 19773365 single base substitution T C intron_variant LIRI-JP X 19777592 19777592 single base substitution G A intron_variant LIRI-JP X 19777627 19777627 single base substitution T A intron_variant LIRI-JP X 19778025 19778025 single base substitution A C intron_variant LIRI-JP X 19779019 19779019 single base substitution T A intron_variant LIRI-JP X 19781072 19781072 single base substitution G A intron_variant LIRI-JP X 19786763 19786763 single base substitution G A intron_variant LIRI-JP X 19788528 19788528 single base substitution T C intron_variant LIRI-JP X 19791207 19791207 single base substitution A T intron_variant LIRI-JP X 19791846 19791846 single base substitution C T intron_variant LIRI-JP X 19794272 19794272 deletion of <=200bp A - intron_variant LIRI-JP X 19794366 19794366 single base substitution G A intron_variant LIRI-JP X 19799784 19799784 single base substitution G T intron_variant LIRI-JP X 19800452 19800452 single base substitution T C intron_variant LIRI-JP X 19801094 19801094 single base substitution G A intron_variant LIRI-JP X 19801167 19801167 single base substitution T C intron_variant LIRI-JP X 19803221 19803221 single base substitution T G intron_variant LIRI-JP X 19804930 19804930 single base substitution G A intron_variant LIRI-JP X 19805701 19805701 single base substitution C T intron_variant LIRI-JP X 19806874 19806874 single base substitution A C intron_variant LIRI-JP X 19810175 19810175 single base substitution T C intron_variant LIRI-JP X 19812529 19812529 single base substitution A G intron_variant LIRI-JP X 19813080 19813082 deletion of <=200bp TTA - intron_variant LIRI-JP X 19813186 19813186 single base substitution T A intron_variant LIRI-JP X 19813261 19813261 single base substitution T C intron_variant LIRI-JP X 19813512 19813512 single base substitution T C intron_variant LIRI-JP X 19813879 19813879 single base substitution C A intron_variant LIRI-JP X 19816524 19816524 insertion of <=200bp - CC intron_variant LIRI-JP X 19817045 19817045 single base substitution T A intron_variant LIRI-JP X 19821911 19821911 single base substitution C T intron_variant LIRI-JP X 19821911 19821911 single base substitution C T upstream_gene_variant LIRI-JP X 19822399 19822399 single base substitution G A intron_variant LIRI-JP X 19822399 19822399 single base substitution G A upstream_gene_variant LIRI-JP X 19826969 19826969 single base substitution G T intron_variant LIRI-JP X 19827139 19827139 single base substitution G T intron_variant LIRI-JP X 19827633 19827633 single base substitution T C intron_variant LIRI-JP X 19830831 19830831 single base substitution A G intron_variant LIRI-JP X 19837729 19837729 single base substitution A T intron_variant LIRI-JP X 19837955 19837955 single base substitution G A intron_variant LIRI-JP X 19838237 19838237 single base substitution G T intron_variant LIRI-JP X 19838323 19838323 single base substitution T C intron_variant LIRI-JP X 19839173 19839173 single base substitution A T intron_variant LIRI-JP X 19840218 19840218 single base substitution T C intron_variant LIRI-JP X 19847732 19847732 single base substitution C T intron_variant LIRI-JP X 19853995 19853995 single base substitution A G intron_variant LIRI-JP X 19856386 19856386 single base substitution C T intron_variant LIRI-JP X 19856682 19856682 single base substitution C A intron_variant LIRI-JP X 19857601 19857601 single base substitution C T intron_variant LIRI-JP X 19862749 19862749 single base substitution A C intron_variant LIRI-JP X 19863091 19863091 single base substitution G A intron_variant LIRI-JP X 19863363 19863363 single base substitution G A intron_variant LIRI-JP X 19863500 19863500 single base substitution G A intron_variant LIRI-JP X 19865606 19865606 single base substitution C T intron_variant LIRI-JP X 19872491 19872491 single base substitution C T intron_variant LIRI-JP X 19873667 19873667 single base substitution C A intron_variant LIRI-JP X 19874941 19874941 single base substitution A G intron_variant LIRI-JP X 19875546 19875546 single base substitution G C intron_variant LIRI-JP X 19878921 19878921 single base substitution C A intron_variant LIRI-JP X 19880485 19880485 single base substitution C T intron_variant LIRI-JP X 19882153 19882153 deletion of <=200bp C - intron_variant LIRI-JP X 19885426 19885426 single base substitution A T intron_variant LIRI-JP X 19887224 19887224 single base substitution C A intron_variant LIRI-JP X 19887471 19887471 single base substitution G T intron_variant LIRI-JP X 19888728 19888728 single base substitution T C intron_variant LIRI-JP X 19888743 19888743 single base substitution C T intron_variant LIRI-JP X 19888767 19888767 single base substitution T C intron_variant LIRI-JP X 19894207 19894207 single base substitution T C intron_variant LIRI-JP X 19896219 19896219 single base substitution G A intron_variant LIRI-JP X 19896437 19896437 single base substitution C T intron_variant LIRI-JP X 19896930 19896930 single base substitution T C intron_variant LIRI-JP X 19901979 19901979 single base substitution A T intron_variant LIRI-JP X 19901985 19901985 single base substitution T C intron_variant LIRI-JP X 19903636 19903636 single base substitution G A intron_variant LUSC-KR X 19548910 19548910 single base substitution G T downstream_gene_variant LUSC-KR X 19558445 19558445 single base substitution C G intron_variant LUSC-KR X 19561447 19561447 single base substitution G C intron_variant LUSC-KR X 19567134 19567134 single base substitution G A intron_variant LUSC-KR X 19567296 19567296 single base substitution G A intron_variant LUSC-KR X 19573388 19573388 single base substitution A T intron_variant LUSC-KR X 19575122 19575122 single base substitution C T intron_variant LUSC-KR X 19576080 19576080 single base substitution T C intron_variant LUSC-KR X 19576481 19576481 single base substitution T A intron_variant LUSC-KR X 19578245 19578245 single base substitution A G intron_variant LUSC-KR X 19578309 19578309 single base substitution A T intron_variant LUSC-KR X 19580879 19580879 single base substitution C A intron_variant LUSC-KR X 19581906 19581906 single base substitution G T intron_variant LUSC-KR X 19587792 19587792 single base substitution G T intron_variant LUSC-KR X 19603601 19603601 single base substitution C A downstream_gene_variant LUSC-KR X 19603601 19603601 single base substitution C A intron_variant LUSC-KR X 19605581 19605581 single base substitution G T downstream_gene_variant LUSC-KR X 19605581 19605581 single base substitution G T intron_variant LUSC-KR X 19610698 19610698 single base substitution C T intron_variant LUSC-KR X 19612092 19612092 single base substitution A G intron_variant LUSC-KR X 19617915 19617915 single base substitution C G intron_variant LUSC-KR X 19618282 19618282 single base substitution C T intron_variant LUSC-KR X 19632457 19632457 single base substitution C T intron_variant LUSC-KR X 19639147 19639147 single base substitution C T intron_variant LUSC-KR X 19656070 19656070 single base substitution C T intron_variant LUSC-KR X 19658509 19658509 single base substitution A G intron_variant LUSC-KR X 19667286 19667286 single base substitution T C intron_variant LUSC-KR X 19669342 19669342 single base substitution T C intron_variant LUSC-KR X 19671858 19671858 single base substitution A G intron_variant LUSC-KR X 19677679 19677679 single base substitution C A intron_variant LUSC-KR X 19680209 19680209 single base substitution C T intron_variant LUSC-KR X 19682211 19682211 single base substitution A G intron_variant LUSC-KR X 19683164 19683164 single base substitution C A intron_variant LUSC-KR X 19683164 19683164 single base substitution C A upstream_gene_variant LUSC-KR X 19696189 19696189 single base substitution T A intron_variant LUSC-KR X 19698866 19698866 single base substitution G A downstream_gene_variant LUSC-KR X 19698866 19698866 single base substitution G A intron_variant LUSC-KR X 19701515 19701515 single base substitution C A downstream_gene_variant LUSC-KR X 19701515 19701515 single base substitution C A intron_variant LUSC-KR X 19701516 19701516 single base substitution C A downstream_gene_variant LUSC-KR X 19701516 19701516 single base substitution C A intron_variant LUSC-KR X 19702020 19702020 single base substitution C G intron_variant LUSC-KR X 19702020 19702020 single base substitution C G missense_variant G124A 371G>C LUSC-KR X 19702020 19702020 single base substitution C G missense_variant G163A 488G>C LUSC-KR X 19702020 19702020 single base substitution C G missense_variant G179A 536G>C LUSC-KR X 19702020 19702020 single base substitution C G missense_variant G196A 587G>C LUSC-KR X 19702020 19702020 single base substitution C G missense_variant G216A 647G>C LUSC-KR X 19702020 19702020 single base substitution C G missense_variant G260A 779G>C LUSC-KR X 19712110 19712110 single base substitution T C intron_variant LUSC-KR X 19719455 19719455 single base substitution T A intron_variant LUSC-KR X 19728241 19728241 single base substitution T A intron_variant LUSC-KR X 19729009 19729009 single base substitution C T intron_variant LUSC-KR X 19731835 19731835 single base substitution T C intron_variant LUSC-KR X 19736625 19736625 single base substitution T C intron_variant LUSC-KR X 19739533 19739533 single base substitution A T intron_variant LUSC-KR X 19741636 19741636 single base substitution A G intron_variant LUSC-KR X 19745056 19745056 single base substitution G T intron_variant LUSC-KR X 19755043 19755043 single base substitution G T intron_variant LUSC-KR X 19755067 19755067 single base substitution C A intron_variant LUSC-KR X 19759170 19759170 single base substitution G C intron_variant LUSC-KR X 19759170 19759170 single base substitution G C upstream_gene_variant LUSC-KR X 19775666 19775666 single base substitution A T intron_variant LUSC-KR X 19776339 19776339 single base substitution G A intron_variant LUSC-KR X 19778679 19778679 single base substitution C A intron_variant LUSC-KR X 19779427 19779427 single base substitution G A intron_variant LUSC-KR X 19784861 19784861 single base substitution G A intron_variant LUSC-KR X 19795448 19795448 single base substitution G C intron_variant LUSC-KR X 19797960 19797960 single base substitution G C intron_variant LUSC-KR X 19797990 19797990 single base substitution A G intron_variant LUSC-KR X 19798150 19798150 single base substitution A G intron_variant LUSC-KR X 19798178 19798178 single base substitution A G intron_variant LUSC-KR X 19800663 19800663 single base substitution G A intron_variant LUSC-KR X 19805852 19805852 single base substitution T A intron_variant LUSC-KR X 19806822 19806822 single base substitution T C intron_variant LUSC-KR X 19812612 19812612 single base substitution G T intron_variant LUSC-KR X 19816018 19816018 single base substitution C T intron_variant LUSC-KR X 19820632 19820632 single base substitution A G intron_variant LUSC-KR X 19820632 19820632 single base substitution A G upstream_gene_variant LUSC-KR X 19825149 19825149 single base substitution C A intron_variant LUSC-KR X 19828038 19828038 single base substitution C A intron_variant LUSC-KR X 19830905 19830905 single base substitution C T intron_variant LUSC-KR X 19843399 19843399 single base substitution T C intron_variant LUSC-KR X 19844876 19844876 single base substitution G A intron_variant LUSC-KR X 19850183 19850183 single base substitution T A intron_variant LUSC-KR X 19851630 19851630 single base substitution A C intron_variant LUSC-KR X 19855806 19855806 single base substitution G A intron_variant LUSC-KR X 19857849 19857849 single base substitution C A intron_variant LUSC-KR X 19861495 19861495 single base substitution G T intron_variant LUSC-KR X 19861634 19861634 single base substitution T C intron_variant LUSC-KR X 19868197 19868197 single base substitution G A intron_variant LUSC-KR X 19869814 19869814 single base substitution C A intron_variant LUSC-KR X 19874125 19874125 single base substitution G T intron_variant LUSC-KR X 19884785 19884785 single base substitution G A intron_variant LUSC-KR X 19889828 19889828 single base substitution G T intron_variant LUSC-KR X 19893756 19893756 single base substitution C G intron_variant LUSC-KR X 19898956 19898956 single base substitution G C intron_variant LUSC-KR X 19902957 19902957 single base substitution C A intron_variant LUSC-KR X 19908801 19908801 single base substitution A T upstream_gene_variant LUSC-US X 19564056 19564056 single base substitution G C missense_variant T275S 824C>G LUSC-US X 19564056 19564056 single base substitution G C missense_variant T298S 893C>G LUSC-US X 19564056 19564056 single base substitution G C missense_variant T499S 1496C>G LUSC-US X 19564056 19564056 single base substitution G C missense_variant T516S 1547C>G LUSC-US X 19564056 19564056 single base substitution G C missense_variant T536S 1607C>G LUSC-US X 19568202 19568202 single base substitution C T splice_acceptor_variant LUSC-US X 19713856 19713856 single base substitution C T missense_variant E132K 394G>A LUSC-US X 19713856 19713856 single base substitution C T missense_variant E40K 118G>A LUSC-US X 19713856 19713856 single base substitution C T missense_variant E68K 202G>A LUSC-US X 19713856 19713856 single base substitution C T missense_variant E79K 235G>A LUSC-US X 19713856 19713856 single base substitution C T missense_variant E95K 283G>A LUSC-US X 19713856 19713856 single base substitution C T upstream_gene_variant LUSC-US X 19764486 19764486 single base substitution C A missense_variant S15I 44G>T LUSC-US X 19764486 19764486 single base substitution C A missense_variant S26I 77G>T LUSC-US X 19764486 19764486 single base substitution C A missense_variant S42I 125G>T LUSC-US X 19764486 19764486 single base substitution C A missense_variant S79I 236G>T MALY-DE X 19549006 19549006 single base substitution C T downstream_gene_variant MALY-DE X 19551807 19551807 single base substitution T G downstream_gene_variant MALY-DE X 19553568 19553568 single base substitution G A 3_prime_UTR_variant MALY-DE X 19553568 19553568 single base substitution G A downstream_gene_variant MALY-DE X 19560276 19560276 single base substitution C T synonymous_variant P292P 876G>A MALY-DE X 19560276 19560276 single base substitution C T synonymous_variant P315P 945G>A MALY-DE X 19560276 19560276 single base substitution C T synonymous_variant P516P 1548G>A MALY-DE X 19560276 19560276 single base substitution C T synonymous_variant P533P 1599G>A MALY-DE X 19560276 19560276 single base substitution C T synonymous_variant P553P 1659G>A MALY-DE X 19568300 19568300 single base substitution T C intron_variant MALY-DE X 19573200 19573200 single base substitution A T intron_variant MALY-DE X 19573642 19573642 single base substitution C T intron_variant MALY-DE X 19586115 19586115 single base substitution A C intron_variant MALY-DE X 19589792 19589792 single base substitution C T intron_variant MALY-DE X 19590643 19590644 deletion of <=200bp CT - intron_variant MALY-DE X 19599541 19599541 single base substitution G T intron_variant MALY-DE X 19608528 19608528 single base substitution C G downstream_gene_variant MALY-DE X 19608528 19608528 single base substitution C G intron_variant MALY-DE X 19611283 19611283 single base substitution C A intron_variant MALY-DE X 19612208 19612208 single base substitution C T intron_variant MALY-DE X 19613372 19613372 single base substitution C T intron_variant MALY-DE X 19617409 19617409 deletion of <=200bp A - intron_variant MALY-DE X 19623939 19623939 insertion of <=200bp - A intron_variant MALY-DE X 19629475 19629475 single base substitution T G intron_variant MALY-DE X 19630612 19630612 single base substitution G A intron_variant MALY-DE X 19633431 19633431 single base substitution C T intron_variant MALY-DE X 19638374 19638374 single base substitution G A intron_variant MALY-DE X 19640220 19640220 single base substitution T G intron_variant MALY-DE X 19641421 19641421 single base substitution T G intron_variant MALY-DE X 19647463 19647463 single base substitution T G intron_variant MALY-DE X 19652781 19652781 single base substitution C T intron_variant MALY-DE X 19654925 19654925 single base substitution A C intron_variant MALY-DE X 19656752 19656752 single base substitution G A intron_variant MALY-DE X 19659587 19659587 single base substitution C T downstream_gene_variant MALY-DE X 19659587 19659587 single base substitution C T intron_variant MALY-DE X 19668215 19668216 deletion of <=200bp AG - intron_variant MALY-DE X 19674385 19674385 single base substitution T C intron_variant MALY-DE X 19674857 19674857 single base substitution T A intron_variant MALY-DE X 19674955 19674955 single base substitution A C intron_variant MALY-DE X 19675022 19675022 single base substitution A G intron_variant MALY-DE X 19678688 19678688 single base substitution G T intron_variant MALY-DE X 19685773 19685773 single base substitution C A intron_variant MALY-DE X 19685773 19685773 single base substitution C A upstream_gene_variant MALY-DE X 19687584 19687584 single base substitution A G intron_variant MALY-DE X 19687584 19687584 single base substitution A G upstream_gene_variant MALY-DE X 19689490 19689491 deletion of <=200bp AC - intron_variant MALY-DE X 19689490 19689491 deletion of <=200bp AC - upstream_gene_variant MALY-DE X 19692585 19692588 deletion of <=200bp TGAA - intron_variant MALY-DE X 19692585 19692588 deletion of <=200bp TGAA - upstream_gene_variant MALY-DE X 19705732 19705732 single base substitution C T intron_variant MALY-DE X 19705732 19705732 single base substitution C T splice_region_variant MALY-DE X 19709470 19709470 single base substitution C A intron_variant MALY-DE X 19710162 19710162 single base substitution G T intron_variant MALY-DE X 19712585 19712585 insertion of <=200bp - C intron_variant MALY-DE X 19728940 19728940 single base substitution G A intron_variant MALY-DE X 19730018 19730018 single base substitution A C intron_variant MALY-DE X 19733091 19733091 single base substitution C T intron_variant MALY-DE X 19733438 19733438 single base substitution A C intron_variant MALY-DE X 19738998 19738998 single base substitution G T intron_variant MALY-DE X 19740650 19740651 deletion of <=200bp GT - intron_variant MALY-DE X 19747771 19747772 deletion of <=200bp AC - intron_variant MALY-DE X 19752692 19752692 single base substitution A T intron_variant MALY-DE X 19759463 19759463 single base substitution C T intron_variant MALY-DE X 19759463 19759463 single base substitution C T upstream_gene_variant MALY-DE X 19762412 19762412 single base substitution T A intron_variant MALY-DE X 19762412 19762412 single base substitution T A upstream_gene_variant MALY-DE X 19765777 19765777 single base substitution G C intron_variant MALY-DE X 19765777 19765777 single base substitution G C upstream_gene_variant MALY-DE X 19769016 19769016 single base substitution A T intron_variant MALY-DE X 19769016 19769016 single base substitution A T upstream_gene_variant MALY-DE X 19769531 19769531 single base substitution G A intron_variant MALY-DE X 19769531 19769531 single base substitution G A upstream_gene_variant MALY-DE X 19771462 19771462 single base substitution A T intron_variant MALY-DE X 19778516 19778516 insertion of <=200bp - ATAC intron_variant MALY-DE X 19779142 19779142 single base substitution A G intron_variant MALY-DE X 19780499 19780499 single base substitution C A intron_variant MALY-DE X 19781178 19781178 single base substitution A G intron_variant MALY-DE X 19784783 19784783 single base substitution G A intron_variant MALY-DE X 19785631 19785631 deletion of <=200bp T - intron_variant MALY-DE X 19793793 19793793 single base substitution C T intron_variant MALY-DE X 19793983 19793983 single base substitution C T intron_variant MALY-DE X 19794976 19794976 single base substitution G A intron_variant MALY-DE X 19812428 19812428 single base substitution G A intron_variant MALY-DE X 19813488 19813488 single base substitution T C intron_variant MALY-DE X 19816009 19816010 deletion of <=200bp AC - intron_variant MALY-DE X 19817252 19817252 single base substitution A T intron_variant MALY-DE X 19822768 19822768 single base substitution T C intron_variant MALY-DE X 19822768 19822768 single base substitution T C upstream_gene_variant MALY-DE X 19837963 19837963 single base substitution T C intron_variant MALY-DE X 19843215 19843215 single base substitution G C intron_variant MALY-DE X 19846005 19846008 deletion of <=200bp AAAA - intron_variant MALY-DE X 19856178 19856183 deletion of <=200bp AACAAC - intron_variant MALY-DE X 19867813 19867813 single base substitution A G intron_variant MALY-DE X 19876441 19876441 insertion of <=200bp - A intron_variant MALY-DE X 19887706 19887706 single base substitution C G intron_variant MALY-DE X 19896859 19896859 single base substitution A T intron_variant MALY-DE X 19897069 19897069 single base substitution A T intron_variant MALY-DE X 19897562 19897562 single base substitution T C intron_variant MALY-DE X 19903345 19903345 single base substitution A T intron_variant MALY-DE X 19904754 19904754 single base substitution G A intron_variant MALY-DE X 19910327 19910327 single base substitution T A upstream_gene_variant MELA-AU X 19547318 19547318 single base substitution C T downstream_gene_variant MELA-AU X 19547699 19547699 single base substitution G A downstream_gene_variant MELA-AU X 19548107 19548108 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU X 19548624 19548624 single base substitution C T downstream_gene_variant MELA-AU X 19548984 19548984 single base substitution C T downstream_gene_variant MELA-AU X 19549112 19549112 single base substitution C T downstream_gene_variant MELA-AU X 19549554 19549554 single base substitution G A downstream_gene_variant MELA-AU X 19549937 19549937 single base substitution G A downstream_gene_variant MELA-AU X 19550428 19550428 single base substitution G A downstream_gene_variant MELA-AU X 19550510 19550510 single base substitution G A downstream_gene_variant MELA-AU X 19550555 19550555 deletion of <=200bp G - downstream_gene_variant MELA-AU X 19550835 19550835 single base substitution G A downstream_gene_variant MELA-AU X 19550981 19550981 single base substitution G A downstream_gene_variant MELA-AU X 19551011 19551011 single base substitution C T downstream_gene_variant MELA-AU X 19551051 19551051 single base substitution G A downstream_gene_variant MELA-AU X 19551184 19551184 single base substitution T C downstream_gene_variant MELA-AU X 19551537 19551537 single base substitution G C downstream_gene_variant MELA-AU X 19551735 19551735 single base substitution G A downstream_gene_variant MELA-AU X 19552735 19552735 single base substitution G A 3_prime_UTR_variant MELA-AU X 19552735 19552735 single base substitution G A downstream_gene_variant MELA-AU X 19553168 19553168 single base substitution G A 3_prime_UTR_variant MELA-AU X 19553168 19553168 single base substitution G A downstream_gene_variant MELA-AU X 19553181 19553181 single base substitution G A 3_prime_UTR_variant MELA-AU X 19553181 19553181 single base substitution G A downstream_gene_variant MELA-AU X 19553681 19553681 single base substitution G A 3_prime_UTR_variant MELA-AU X 19553681 19553681 single base substitution G A downstream_gene_variant MELA-AU X 19554038 19554038 single base substitution C T 3_prime_UTR_variant MELA-AU X 19554038 19554038 single base substitution C T downstream_gene_variant MELA-AU X 19554376 19554376 single base substitution G A 3_prime_UTR_variant MELA-AU X 19554376 19554376 single base substitution G A downstream_gene_variant MELA-AU X 19554495 19554495 single base substitution G A 3_prime_UTR_variant MELA-AU X 19554495 19554495 single base substitution G A downstream_gene_variant MELA-AU X 19554996 19554996 single base substitution G A intron_variant MELA-AU X 19555207 19555207 single base substitution G A intron_variant MELA-AU X 19555393 19555393 single base substitution A G intron_variant MELA-AU X 19555827 19555827 single base substitution G A splice_region_variant MELA-AU X 19556588 19556588 single base substitution A G intron_variant MELA-AU X 19556974 19556974 single base substitution G A intron_variant MELA-AU X 19557593 19557594 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19558487 19558487 single base substitution G A intron_variant MELA-AU X 19560764 19560764 single base substitution G A intron_variant MELA-AU X 19560819 19560819 single base substitution G A intron_variant MELA-AU X 19561067 19561067 single base substitution G A intron_variant MELA-AU X 19561201 19561201 single base substitution G A intron_variant MELA-AU X 19561835 19561835 single base substitution G A intron_variant MELA-AU X 19561850 19561850 single base substitution C T intron_variant MELA-AU X 19562526 19562526 single base substitution C T intron_variant MELA-AU X 19562883 19562883 single base substitution C T intron_variant MELA-AU X 19563097 19563097 single base substitution G A intron_variant MELA-AU X 19564011 19564011 single base substitution G A intron_variant MELA-AU X 19565036 19565036 single base substitution G A intron_variant MELA-AU X 19565062 19565062 single base substitution G A intron_variant MELA-AU X 19565133 19565133 single base substitution G A intron_variant MELA-AU X 19566511 19566511 single base substitution A T intron_variant MELA-AU X 19567779 19567779 single base substitution A T intron_variant MELA-AU X 19567858 19567858 single base substitution G A intron_variant MELA-AU X 19568080 19568080 single base substitution G A intron_variant MELA-AU X 19568345 19568345 single base substitution G A intron_variant MELA-AU X 19568643 19568643 single base substitution G A intron_variant MELA-AU X 19569125 19569125 single base substitution C T intron_variant MELA-AU X 19569144 19569144 single base substitution G A intron_variant MELA-AU X 19569260 19569260 single base substitution C T intron_variant MELA-AU X 19569439 19569439 single base substitution G A intron_variant MELA-AU X 19569533 19569533 single base substitution G A intron_variant MELA-AU X 19569723 19569723 single base substitution C T intron_variant MELA-AU X 19570004 19570004 single base substitution C T intron_variant MELA-AU X 19571132 19571132 single base substitution G A intron_variant MELA-AU X 19571321 19571321 single base substitution G A intron_variant MELA-AU X 19571418 19571418 single base substitution C T intron_variant MELA-AU X 19572284 19572284 single base substitution A T intron_variant MELA-AU X 19572645 19572645 single base substitution G A intron_variant MELA-AU X 19572771 19572771 single base substitution C T intron_variant MELA-AU X 19574397 19574397 single base substitution C T intron_variant MELA-AU X 19575580 19575580 single base substitution G A intron_variant MELA-AU X 19575745 19575745 single base substitution A T intron_variant MELA-AU X 19576802 19576802 single base substitution G A intron_variant MELA-AU X 19577639 19577639 single base substitution G A intron_variant MELA-AU X 19577753 19577753 single base substitution G A intron_variant MELA-AU X 19578066 19578066 single base substitution A T intron_variant MELA-AU X 19578753 19578753 single base substitution G A intron_variant MELA-AU X 19578855 19578855 single base substitution G A intron_variant MELA-AU X 19579038 19579038 single base substitution A T intron_variant MELA-AU X 19579551 19579551 single base substitution C T intron_variant MELA-AU X 19581276 19581276 single base substitution G A intron_variant MELA-AU X 19581428 19581428 single base substitution G A intron_variant MELA-AU X 19581609 19581609 single base substitution G A intron_variant MELA-AU X 19581660 19581660 single base substitution C T intron_variant MELA-AU X 19582407 19582407 single base substitution A T intron_variant MELA-AU X 19582671 19582671 single base substitution C T intron_variant MELA-AU X 19582699 19582699 single base substitution C T intron_variant MELA-AU X 19583228 19583228 single base substitution G A intron_variant MELA-AU X 19583450 19583450 single base substitution G T intron_variant MELA-AU X 19583515 19583515 single base substitution C T intron_variant MELA-AU X 19583542 19583542 single base substitution C T intron_variant MELA-AU X 19583955 19583955 single base substitution G A intron_variant MELA-AU X 19584761 19584761 single base substitution G A intron_variant MELA-AU X 19585065 19585065 single base substitution G A intron_variant MELA-AU X 19585527 19585527 single base substitution C T intron_variant MELA-AU X 19585620 19585620 single base substitution G A intron_variant MELA-AU X 19585822 19585822 single base substitution G T intron_variant MELA-AU X 19586490 19586490 single base substitution A T intron_variant MELA-AU X 19587271 19587271 single base substitution G A missense_variant S184L 551C>T MELA-AU X 19587271 19587271 single base substitution G A missense_variant S207L 620C>T MELA-AU X 19587271 19587271 single base substitution G A missense_variant S408L 1223C>T MELA-AU X 19587271 19587271 single base substitution G A missense_variant S425L 1274C>T MELA-AU X 19587271 19587271 single base substitution G A missense_variant S445L 1334C>T MELA-AU X 19587510 19587510 single base substitution C T intron_variant MELA-AU X 19587930 19587930 single base substitution G A intron_variant MELA-AU X 19588110 19588110 single base substitution G A intron_variant MELA-AU X 19588757 19588757 single base substitution G A intron_variant MELA-AU X 19588857 19588857 single base substitution T G intron_variant MELA-AU X 19589167 19589167 single base substitution A G intron_variant MELA-AU X 19589406 19589406 single base substitution T C intron_variant MELA-AU X 19589737 19589738 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19590383 19590383 single base substitution T C intron_variant MELA-AU X 19590453 19590453 single base substitution T C intron_variant MELA-AU X 19591038 19591038 single base substitution G A intron_variant MELA-AU X 19591139 19591139 single base substitution G A intron_variant MELA-AU X 19591276 19591276 single base substitution G A intron_variant MELA-AU X 19591391 19591391 single base substitution C T intron_variant MELA-AU X 19591603 19591603 single base substitution C T intron_variant MELA-AU X 19592534 19592534 single base substitution C T intron_variant MELA-AU X 19592853 19592853 single base substitution G A intron_variant MELA-AU X 19593012 19593012 single base substitution G A intron_variant MELA-AU X 19593137 19593137 single base substitution G A intron_variant MELA-AU X 19593373 19593373 single base substitution G T intron_variant MELA-AU X 19593787 19593787 single base substitution C T intron_variant MELA-AU X 19594556 19594556 single base substitution A T intron_variant MELA-AU X 19595467 19595467 single base substitution G A intron_variant MELA-AU X 19595750 19595750 single base substitution G A intron_variant MELA-AU X 19596070 19596070 single base substitution G A intron_variant MELA-AU X 19596093 19596093 single base substitution G A intron_variant MELA-AU X 19596134 19596134 single base substitution G A intron_variant MELA-AU X 19597379 19597379 single base substitution G A intron_variant MELA-AU X 19597593 19597593 single base substitution C T intron_variant MELA-AU X 19597955 19597955 single base substitution G A intron_variant MELA-AU X 19598411 19598411 single base substitution A C intron_variant MELA-AU X 19600024 19600024 single base substitution C T intron_variant MELA-AU X 19601384 19601384 single base substitution G A intron_variant MELA-AU X 19602253 19602253 single base substitution A T downstream_gene_variant MELA-AU X 19602253 19602253 single base substitution A T intron_variant MELA-AU X 19602875 19602875 single base substitution C T downstream_gene_variant MELA-AU X 19602875 19602875 single base substitution C T intron_variant MELA-AU X 19603385 19603385 single base substitution G A downstream_gene_variant MELA-AU X 19603385 19603385 single base substitution G A intron_variant MELA-AU X 19603953 19603953 single base substitution G A downstream_gene_variant MELA-AU X 19603953 19603953 single base substitution G A intron_variant MELA-AU X 19604131 19604131 single base substitution A C downstream_gene_variant MELA-AU X 19604131 19604131 single base substitution A C intron_variant MELA-AU X 19604766 19604766 single base substitution A T downstream_gene_variant MELA-AU X 19604766 19604766 single base substitution A T intron_variant MELA-AU X 19605328 19605328 single base substitution G A downstream_gene_variant MELA-AU X 19605328 19605328 single base substitution G A intron_variant MELA-AU X 19605739 19605739 single base substitution G A downstream_gene_variant MELA-AU X 19605739 19605739 single base substitution G A intron_variant MELA-AU X 19606055 19606055 single base substitution C T downstream_gene_variant MELA-AU X 19606055 19606055 single base substitution C T intron_variant MELA-AU X 19606265 19606265 single base substitution T C downstream_gene_variant MELA-AU X 19606265 19606265 single base substitution T C intron_variant MELA-AU X 19606804 19606804 single base substitution G A downstream_gene_variant MELA-AU X 19606804 19606804 single base substitution G A exon_variant MELA-AU X 19606804 19606804 single base substitution G A missense_variant P158S 472C>T MELA-AU X 19606804 19606804 single base substitution G A missense_variant P181S 541C>T MELA-AU X 19606804 19606804 single base substitution G A missense_variant P382S 1144C>T MELA-AU X 19606804 19606804 single base substitution G A missense_variant P399S 1195C>T MELA-AU X 19606804 19606804 single base substitution G A missense_variant P419S 1255C>T MELA-AU X 19606804 19606804 single base substitution G A missense_variant P463S 1387C>T MELA-AU X 19607007 19607007 single base substitution A T downstream_gene_variant MELA-AU X 19607007 19607007 single base substitution A T intron_variant MELA-AU X 19607263 19607263 single base substitution C T downstream_gene_variant MELA-AU X 19607263 19607263 single base substitution C T intron_variant MELA-AU X 19607486 19607486 single base substitution G A downstream_gene_variant MELA-AU X 19607486 19607486 single base substitution G A intron_variant MELA-AU X 19607624 19607624 single base substitution C T downstream_gene_variant MELA-AU X 19607624 19607624 single base substitution C T intron_variant MELA-AU X 19608495 19608495 single base substitution C T downstream_gene_variant MELA-AU X 19608495 19608495 single base substitution C T intron_variant MELA-AU X 19608735 19608735 single base substitution G A downstream_gene_variant MELA-AU X 19608735 19608735 single base substitution G A intron_variant MELA-AU X 19609467 19609467 single base substitution C T downstream_gene_variant MELA-AU X 19609467 19609467 single base substitution C T intron_variant MELA-AU X 19610089 19610089 single base substitution G A downstream_gene_variant MELA-AU X 19610089 19610089 single base substitution G A intron_variant MELA-AU X 19610240 19610240 deletion of <=200bp A - exon_variant MELA-AU X 19610240 19610240 deletion of <=200bp A - frameshift_variant I100 MELA-AU X 19610240 19610240 deletion of <=200bp A - frameshift_variant I123 MELA-AU X 19610240 19610240 deletion of <=200bp A - frameshift_variant I324 MELA-AU X 19610240 19610240 deletion of <=200bp A - frameshift_variant I341 MELA-AU X 19610240 19610240 deletion of <=200bp A - frameshift_variant I361 MELA-AU X 19610240 19610240 deletion of <=200bp A - frameshift_variant I405 MELA-AU X 19610248 19610248 single base substitution G T exon_variant MELA-AU X 19610248 19610248 single base substitution G T missense_variant H121N 361C>A MELA-AU X 19610248 19610248 single base substitution G T missense_variant H322N 964C>A MELA-AU X 19610248 19610248 single base substitution G T missense_variant H339N 1015C>A MELA-AU X 19610248 19610248 single base substitution G T missense_variant H359N 1075C>A MELA-AU X 19610248 19610248 single base substitution G T missense_variant H403N 1207C>A MELA-AU X 19610248 19610248 single base substitution G T missense_variant H98N 292C>A MELA-AU X 19610288 19610288 single base substitution G A intron_variant MELA-AU X 19611732 19611732 single base substitution G A intron_variant MELA-AU X 19612125 19612126 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19612340 19612340 single base substitution G A intron_variant MELA-AU X 19612348 19612348 single base substitution C T intron_variant MELA-AU X 19612591 19612591 single base substitution T G intron_variant MELA-AU X 19612624 19612624 single base substitution G A intron_variant MELA-AU X 19612729 19612729 single base substitution G A intron_variant MELA-AU X 19613386 19613386 single base substitution A G intron_variant MELA-AU X 19614322 19614322 single base substitution G A intron_variant MELA-AU X 19614701 19614701 single base substitution G A intron_variant MELA-AU X 19616705 19616705 single base substitution G A intron_variant MELA-AU X 19616833 19616833 single base substitution G A intron_variant MELA-AU X 19617212 19617212 single base substitution C T intron_variant MELA-AU X 19617894 19617894 single base substitution T C intron_variant MELA-AU X 19618232 19618232 single base substitution A T intron_variant MELA-AU X 19618558 19618558 single base substitution A T intron_variant MELA-AU X 19619043 19619043 single base substitution C A intron_variant MELA-AU X 19619674 19619674 single base substitution G A exon_variant MELA-AU X 19619674 19619674 single base substitution G A intron_variant MELA-AU X 19619837 19619837 single base substitution G A intron_variant MELA-AU X 19620006 19620006 single base substitution G A intron_variant MELA-AU X 19620063 19620063 single base substitution G A intron_variant MELA-AU X 19620089 19620089 single base substitution C T intron_variant MELA-AU X 19620335 19620335 single base substitution C T intron_variant MELA-AU X 19620536 19620536 single base substitution G A intron_variant MELA-AU X 19621138 19621138 single base substitution G A intron_variant MELA-AU X 19621669 19621669 single base substitution G A intron_variant MELA-AU X 19622279 19622279 single base substitution C T intron_variant MELA-AU X 19623079 19623079 single base substitution G A intron_variant MELA-AU X 19623240 19623240 single base substitution G A intron_variant MELA-AU X 19625510 19625510 single base substitution G A intron_variant MELA-AU X 19625764 19625764 single base substitution G A intron_variant MELA-AU X 19625993 19625993 single base substitution C T intron_variant MELA-AU X 19626016 19626016 single base substitution G A intron_variant MELA-AU X 19626999 19627000 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 19627403 19627403 single base substitution C T intron_variant MELA-AU X 19627564 19627564 single base substitution C T intron_variant MELA-AU X 19627690 19627690 single base substitution C T intron_variant MELA-AU X 19627714 19627714 single base substitution C T intron_variant MELA-AU X 19628685 19628685 single base substitution T G intron_variant MELA-AU X 19628886 19628886 single base substitution A G intron_variant MELA-AU X 19628969 19628969 single base substitution A T intron_variant MELA-AU X 19629746 19629746 single base substitution A G intron_variant MELA-AU X 19631243 19631243 single base substitution G A intron_variant MELA-AU X 19632007 19632007 single base substitution G A intron_variant MELA-AU X 19632194 19632194 single base substitution G A intron_variant MELA-AU X 19632234 19632235 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19632851 19632851 single base substitution A C intron_variant MELA-AU X 19632933 19632933 single base substitution G A intron_variant MELA-AU X 19633455 19633455 single base substitution C A intron_variant MELA-AU X 19633696 19633696 single base substitution C T intron_variant MELA-AU X 19634333 19634333 single base substitution G A intron_variant MELA-AU X 19634582 19634582 single base substitution G A intron_variant MELA-AU X 19634682 19634682 single base substitution C A intron_variant MELA-AU X 19634882 19634882 single base substitution T G intron_variant MELA-AU X 19634884 19634884 single base substitution C T intron_variant MELA-AU X 19635789 19635789 single base substitution C T intron_variant MELA-AU X 19636110 19636110 single base substitution G A intron_variant MELA-AU X 19636279 19636279 single base substitution G A intron_variant MELA-AU X 19636470 19636470 single base substitution C T intron_variant MELA-AU X 19636749 19636749 single base substitution T A intron_variant MELA-AU X 19636771 19636771 single base substitution G A intron_variant MELA-AU X 19638553 19638553 single base substitution G A intron_variant MELA-AU X 19638674 19638674 single base substitution G A intron_variant MELA-AU X 19638719 19638719 single base substitution G A intron_variant MELA-AU X 19640228 19640228 single base substitution A C intron_variant MELA-AU X 19640875 19640875 single base substitution C T intron_variant MELA-AU X 19641456 19641456 single base substitution C T intron_variant MELA-AU X 19641616 19641616 single base substitution C T intron_variant MELA-AU X 19641697 19641697 single base substitution G A intron_variant MELA-AU X 19642429 19642429 single base substitution G A intron_variant MELA-AU X 19642571 19642571 single base substitution G A intron_variant MELA-AU X 19643223 19643223 single base substitution G A intron_variant MELA-AU X 19643937 19643937 single base substitution G A intron_variant MELA-AU X 19644132 19644132 single base substitution G A intron_variant MELA-AU X 19644250 19644250 single base substitution T A intron_variant MELA-AU X 19644319 19644319 single base substitution G A intron_variant MELA-AU X 19644320 19644320 single base substitution G A intron_variant MELA-AU X 19644340 19644340 single base substitution G A intron_variant MELA-AU X 19644528 19644528 single base substitution G A intron_variant MELA-AU X 19644532 19644532 single base substitution G A intron_variant MELA-AU X 19646088 19646088 single base substitution G A intron_variant MELA-AU X 19646393 19646393 single base substitution C T intron_variant MELA-AU X 19646666 19646666 single base substitution C T intron_variant MELA-AU X 19647321 19647321 single base substitution G A intron_variant MELA-AU X 19647748 19647748 single base substitution G A intron_variant MELA-AU X 19647830 19647830 single base substitution G A intron_variant MELA-AU X 19648062 19648062 single base substitution G A intron_variant MELA-AU X 19648613 19648613 single base substitution G A intron_variant MELA-AU X 19648689 19648689 single base substitution C T intron_variant MELA-AU X 19649599 19649599 single base substitution T G intron_variant MELA-AU X 19649688 19649688 single base substitution G A intron_variant MELA-AU X 19650011 19650011 single base substitution C T exon_variant MELA-AU X 19650011 19650011 single base substitution C T missense_variant E253K 757G>A MELA-AU X 19650011 19650011 single base substitution C T missense_variant E270K 808G>A MELA-AU X 19650011 19650011 single base substitution C T missense_variant E290K 868G>A MELA-AU X 19650011 19650011 single base substitution C T missense_variant E29K 85G>A MELA-AU X 19650011 19650011 single base substitution C T missense_variant E334K 1000G>A MELA-AU X 19650011 19650011 single base substitution C T missense_variant E52K 154G>A MELA-AU X 19650049 19650049 single base substitution G A exon_variant MELA-AU X 19650049 19650049 single base substitution G A missense_variant P16L 47C>T MELA-AU X 19650049 19650049 single base substitution G A missense_variant P240L 719C>T MELA-AU X 19650049 19650049 single base substitution G A missense_variant P257L 770C>T MELA-AU X 19650049 19650049 single base substitution G A missense_variant P277L 830C>T MELA-AU X 19650049 19650049 single base substitution G A missense_variant P321L 962C>T MELA-AU X 19650049 19650049 single base substitution G A missense_variant P39L 116C>T MELA-AU X 19650073 19650073 single base substitution T C exon_variant MELA-AU X 19650073 19650073 single base substitution T C missense_variant K232R 695A>G MELA-AU X 19650073 19650073 single base substitution T C missense_variant K249R 746A>G MELA-AU X 19650073 19650073 single base substitution T C missense_variant K269R 806A>G MELA-AU X 19650073 19650073 single base substitution T C missense_variant K313R 938A>G MELA-AU X 19650073 19650073 single base substitution T C missense_variant K31R 92A>G MELA-AU X 19650073 19650073 single base substitution T C missense_variant K8R 23A>G MELA-AU X 19650167 19650167 single base substitution G A intron_variant MELA-AU X 19650451 19650451 single base substitution A G intron_variant MELA-AU X 19650544 19650544 single base substitution G A intron_variant MELA-AU X 19650905 19650905 single base substitution C T intron_variant MELA-AU X 19651210 19651210 single base substitution G A intron_variant MELA-AU X 19651320 19651320 single base substitution G A intron_variant MELA-AU X 19651709 19651709 single base substitution A G intron_variant MELA-AU X 19653939 19653939 single base substitution G A intron_variant MELA-AU X 19653993 19653993 single base substitution T C intron_variant MELA-AU X 19655436 19655436 single base substitution G A intron_variant MELA-AU X 19655511 19655511 single base substitution C T intron_variant MELA-AU X 19655512 19655512 single base substitution G A intron_variant MELA-AU X 19656102 19656102 single base substitution G A intron_variant MELA-AU X 19656889 19656889 single base substitution C T intron_variant MELA-AU X 19657631 19657631 single base substitution G A intron_variant MELA-AU X 19657712 19657712 single base substitution G A intron_variant MELA-AU X 19658229 19658229 single base substitution G A intron_variant MELA-AU X 19659082 19659082 single base substitution G A downstream_gene_variant MELA-AU X 19659082 19659082 single base substitution G A intron_variant MELA-AU X 19659681 19659682 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 19659681 19659682 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19660135 19660135 single base substitution T A downstream_gene_variant MELA-AU X 19660135 19660135 single base substitution T A intron_variant MELA-AU X 19660304 19660304 single base substitution C T downstream_gene_variant MELA-AU X 19660304 19660304 single base substitution C T intron_variant MELA-AU X 19661669 19661669 single base substitution A T downstream_gene_variant MELA-AU X 19661669 19661669 single base substitution A T intron_variant MELA-AU X 19662918 19662918 single base substitution G A downstream_gene_variant MELA-AU X 19662918 19662918 single base substitution G A intron_variant MELA-AU X 19663763 19663763 single base substitution C T intron_variant MELA-AU X 19663989 19663989 single base substitution G A intron_variant MELA-AU X 19664167 19664167 single base substitution C T intron_variant MELA-AU X 19664187 19664187 single base substitution C A intron_variant MELA-AU X 19664884 19664884 single base substitution C T intron_variant MELA-AU X 19665532 19665532 single base substitution C T intron_variant MELA-AU X 19666577 19666577 single base substitution G A intron_variant MELA-AU X 19667198 19667198 single base substitution A G intron_variant MELA-AU X 19667626 19667626 single base substitution C A intron_variant MELA-AU X 19669398 19669398 single base substitution C T intron_variant MELA-AU X 19669910 19669910 single base substitution C T intron_variant MELA-AU X 19670187 19670187 single base substitution C T intron_variant MELA-AU X 19670626 19670626 single base substitution G A intron_variant MELA-AU X 19670756 19670756 single base substitution G A intron_variant MELA-AU X 19670777 19670788 deletion of <=200bp TTAACTTTATCC - intron_variant MELA-AU X 19671022 19671022 single base substitution T A intron_variant MELA-AU X 19671196 19671196 single base substitution C T intron_variant MELA-AU X 19671429 19671429 single base substitution C T intron_variant MELA-AU X 19672194 19672194 single base substitution G A intron_variant MELA-AU X 19672409 19672409 single base substitution G A intron_variant MELA-AU X 19673757 19673757 single base substitution G A intron_variant MELA-AU X 19674350 19674350 single base substitution A G intron_variant MELA-AU X 19674774 19674774 single base substitution G A intron_variant MELA-AU X 19674976 19674976 single base substitution C T intron_variant MELA-AU X 19675679 19675679 single base substitution C T intron_variant MELA-AU X 19677020 19677020 single base substitution C T intron_variant MELA-AU X 19677553 19677553 single base substitution A T intron_variant MELA-AU X 19677767 19677767 single base substitution C T intron_variant MELA-AU X 19679274 19679274 single base substitution C T intron_variant MELA-AU X 19680135 19680135 single base substitution G A intron_variant MELA-AU X 19680783 19680783 single base substitution T A intron_variant MELA-AU X 19681251 19681251 single base substitution C T intron_variant MELA-AU X 19681438 19681438 deletion of <=200bp T - intron_variant MELA-AU X 19681606 19681606 single base substitution C T intron_variant MELA-AU X 19681658 19681658 single base substitution G A intron_variant MELA-AU X 19681795 19681795 single base substitution G A intron_variant MELA-AU X 19682032 19682032 single base substitution C T intron_variant MELA-AU X 19682306 19682306 single base substitution C T intron_variant MELA-AU X 19682634 19682634 single base substitution C T intron_variant MELA-AU X 19683094 19683094 single base substitution G A intron_variant MELA-AU X 19683094 19683094 single base substitution G A upstream_gene_variant MELA-AU X 19684510 19684510 single base substitution C T intron_variant MELA-AU X 19684510 19684510 single base substitution C T upstream_gene_variant MELA-AU X 19685141 19685141 single base substitution G A intron_variant MELA-AU X 19685141 19685141 single base substitution G A upstream_gene_variant MELA-AU X 19685552 19685552 single base substitution G A intron_variant MELA-AU X 19685552 19685552 single base substitution G A upstream_gene_variant MELA-AU X 19685674 19685674 single base substitution G A intron_variant MELA-AU X 19685674 19685674 single base substitution G A upstream_gene_variant MELA-AU X 19686034 19686034 single base substitution T C intron_variant MELA-AU X 19686034 19686034 single base substitution T C upstream_gene_variant MELA-AU X 19686373 19686373 single base substitution C T intron_variant MELA-AU X 19686373 19686373 single base substitution C T upstream_gene_variant MELA-AU X 19686489 19686489 single base substitution G A intron_variant MELA-AU X 19686489 19686489 single base substitution G A upstream_gene_variant MELA-AU X 19686716 19686716 single base substitution C T intron_variant MELA-AU X 19686716 19686716 single base substitution C T upstream_gene_variant MELA-AU X 19686748 19686748 single base substitution A C intron_variant MELA-AU X 19686748 19686748 single base substitution A C upstream_gene_variant MELA-AU X 19687443 19687443 single base substitution A T intron_variant MELA-AU X 19687443 19687443 single base substitution A T upstream_gene_variant MELA-AU X 19687696 19687696 single base substitution C T intron_variant MELA-AU X 19687696 19687696 single base substitution C T upstream_gene_variant MELA-AU X 19688188 19688188 single base substitution G A intron_variant MELA-AU X 19689573 19689573 single base substitution C T intron_variant MELA-AU X 19689573 19689573 single base substitution C T upstream_gene_variant MELA-AU X 19689997 19689998 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 19689997 19689998 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 19690461 19690461 single base substitution G A intron_variant MELA-AU X 19690461 19690461 single base substitution G A upstream_gene_variant MELA-AU X 19690514 19690514 single base substitution C A intron_variant MELA-AU X 19690514 19690514 single base substitution C A upstream_gene_variant MELA-AU X 19691687 19691687 single base substitution C T intron_variant MELA-AU X 19691687 19691687 single base substitution C T upstream_gene_variant MELA-AU X 19691911 19691911 single base substitution C T intron_variant MELA-AU X 19691911 19691911 single base substitution C T upstream_gene_variant MELA-AU X 19692098 19692098 single base substitution T C intron_variant MELA-AU X 19692098 19692098 single base substitution T C upstream_gene_variant MELA-AU X 19692197 19692197 single base substitution C T intron_variant MELA-AU X 19692197 19692197 single base substitution C T upstream_gene_variant MELA-AU X 19692306 19692306 single base substitution C T intron_variant MELA-AU X 19692306 19692306 single base substitution C T upstream_gene_variant MELA-AU X 19692345 19692345 single base substitution C T intron_variant MELA-AU X 19692345 19692345 single base substitution C T upstream_gene_variant MELA-AU X 19692906 19692906 single base substitution A T intron_variant MELA-AU X 19692906 19692906 single base substitution A T upstream_gene_variant MELA-AU X 19693015 19693015 single base substitution G A intron_variant MELA-AU X 19693015 19693015 single base substitution G A upstream_gene_variant MELA-AU X 19693815 19693815 single base substitution C T intron_variant MELA-AU X 19693815 19693815 single base substitution C T upstream_gene_variant MELA-AU X 19694513 19694513 single base substitution A G intron_variant MELA-AU X 19694559 19694560 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19695186 19695186 single base substitution C T intron_variant MELA-AU X 19695329 19695329 single base substitution C T intron_variant MELA-AU X 19695422 19695422 single base substitution G A intron_variant MELA-AU X 19696008 19696008 single base substitution C G intron_variant MELA-AU X 19696013 19696013 single base substitution C T intron_variant MELA-AU X 19696125 19696125 single base substitution C T intron_variant MELA-AU X 19696378 19696378 single base substitution G A intron_variant MELA-AU X 19696604 19696604 single base substitution A T intron_variant MELA-AU X 19696742 19696742 single base substitution G A intron_variant MELA-AU X 19697234 19697234 single base substitution G C downstream_gene_variant MELA-AU X 19697234 19697234 single base substitution G C intron_variant MELA-AU X 19697757 19697757 single base substitution A T downstream_gene_variant MELA-AU X 19697757 19697757 single base substitution A T intron_variant MELA-AU X 19697918 19697918 single base substitution C T downstream_gene_variant MELA-AU X 19697918 19697918 single base substitution C T intron_variant MELA-AU X 19698002 19698002 single base substitution G A downstream_gene_variant MELA-AU X 19698002 19698002 single base substitution G A intron_variant MELA-AU X 19698066 19698066 single base substitution A G downstream_gene_variant MELA-AU X 19698066 19698066 single base substitution A G intron_variant MELA-AU X 19698573 19698573 single base substitution G A downstream_gene_variant MELA-AU X 19698573 19698573 single base substitution G A intron_variant MELA-AU X 19698666 19698666 single base substitution C T downstream_gene_variant MELA-AU X 19698666 19698666 single base substitution C T intron_variant MELA-AU X 19698806 19698806 single base substitution T A downstream_gene_variant MELA-AU X 19698806 19698806 single base substitution T A intron_variant MELA-AU X 19698974 19698974 single base substitution G A downstream_gene_variant MELA-AU X 19698974 19698974 single base substitution G A intron_variant MELA-AU X 19699021 19699021 single base substitution G A downstream_gene_variant MELA-AU X 19699021 19699021 single base substitution G A intron_variant MELA-AU X 19699859 19699859 single base substitution G A downstream_gene_variant MELA-AU X 19699859 19699859 single base substitution G A intron_variant MELA-AU X 19699906 19699906 single base substitution G A downstream_gene_variant MELA-AU X 19699906 19699906 single base substitution G A intron_variant MELA-AU X 19700061 19700061 single base substitution G A downstream_gene_variant MELA-AU X 19700061 19700061 single base substitution G A intron_variant MELA-AU X 19700451 19700451 single base substitution T C downstream_gene_variant MELA-AU X 19700451 19700451 single base substitution T C intron_variant MELA-AU X 19700717 19700717 single base substitution G A downstream_gene_variant MELA-AU X 19700717 19700717 single base substitution G A intron_variant MELA-AU X 19700750 19700750 single base substitution A G downstream_gene_variant MELA-AU X 19700750 19700750 single base substitution A G intron_variant MELA-AU X 19700894 19700894 single base substitution C T downstream_gene_variant MELA-AU X 19700894 19700894 single base substitution C T intron_variant MELA-AU X 19702196 19702196 single base substitution C A intron_variant MELA-AU X 19702708 19702708 single base substitution T C intron_variant MELA-AU X 19702939 19702939 single base substitution C T intron_variant MELA-AU X 19703306 19703306 single base substitution T C intron_variant MELA-AU X 19703310 19703310 single base substitution C T intron_variant MELA-AU X 19703642 19703642 single base substitution G T intron_variant MELA-AU X 19703662 19703662 single base substitution G A intron_variant MELA-AU X 19703686 19703686 single base substitution G A intron_variant MELA-AU X 19704559 19704559 single base substitution T G intron_variant MELA-AU X 19704817 19704817 single base substitution G A intron_variant MELA-AU X 19704928 19704928 single base substitution C T intron_variant MELA-AU X 19705386 19705386 single base substitution G A intron_variant MELA-AU X 19705829 19705829 single base substitution G A intron_variant MELA-AU X 19707325 19707326 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU X 19707502 19707502 single base substitution G A intron_variant MELA-AU X 19708180 19708180 single base substitution T C intron_variant MELA-AU X 19708226 19708226 single base substitution C T intron_variant MELA-AU X 19708542 19708542 single base substitution G A intron_variant MELA-AU X 19708586 19708586 single base substitution G A intron_variant MELA-AU X 19708596 19708596 single base substitution G A intron_variant MELA-AU X 19708985 19708985 single base substitution G A intron_variant MELA-AU X 19709112 19709112 single base substitution C T intron_variant MELA-AU X 19710809 19710809 single base substitution T A intron_variant MELA-AU X 19711496 19711496 single base substitution G A intron_variant MELA-AU X 19711569 19711569 single base substitution C T intron_variant MELA-AU X 19711678 19711678 single base substitution G A intron_variant MELA-AU X 19711721 19711721 single base substitution G A intron_variant MELA-AU X 19712968 19712968 single base substitution G A intron_variant MELA-AU X 19713756 19713756 single base substitution G A exon_variant MELA-AU X 19713756 19713756 single base substitution G A missense_variant S101F 302C>T MELA-AU X 19713756 19713756 single base substitution G A missense_variant S112F 335C>T MELA-AU X 19713756 19713756 single base substitution G A missense_variant S128F 383C>T MELA-AU X 19713756 19713756 single base substitution G A missense_variant S165F 494C>T MELA-AU X 19713756 19713756 single base substitution G A missense_variant S73F 218C>T MELA-AU X 19713853 19713853 single base substitution C T missense_variant E133K 397G>A MELA-AU X 19713853 19713853 single base substitution C T missense_variant E41K 121G>A MELA-AU X 19713853 19713853 single base substitution C T missense_variant E69K 205G>A MELA-AU X 19713853 19713853 single base substitution C T missense_variant E80K 238G>A MELA-AU X 19713853 19713853 single base substitution C T missense_variant E96K 286G>A MELA-AU X 19713853 19713853 single base substitution C T upstream_gene_variant MELA-AU X 19713973 19713973 single base substitution G A intron_variant MELA-AU X 19713973 19713973 single base substitution G A upstream_gene_variant MELA-AU X 19714471 19714471 single base substitution A T intron_variant MELA-AU X 19714471 19714471 single base substitution A T upstream_gene_variant MELA-AU X 19714727 19714727 single base substitution G A intron_variant MELA-AU X 19714727 19714727 single base substitution G A upstream_gene_variant MELA-AU X 19714994 19714994 single base substitution T A intron_variant MELA-AU X 19714994 19714994 single base substitution T A upstream_gene_variant MELA-AU X 19715148 19715148 single base substitution G A intron_variant MELA-AU X 19715148 19715148 single base substitution G A upstream_gene_variant MELA-AU X 19715215 19715215 single base substitution G A intron_variant MELA-AU X 19715215 19715215 single base substitution G A upstream_gene_variant MELA-AU X 19715365 19715365 single base substitution T C intron_variant MELA-AU X 19715365 19715365 single base substitution T C upstream_gene_variant MELA-AU X 19715369 19715369 single base substitution C T intron_variant MELA-AU X 19715369 19715369 single base substitution C T upstream_gene_variant MELA-AU X 19717089 19717089 single base substitution C T intron_variant MELA-AU X 19717089 19717089 single base substitution C T upstream_gene_variant MELA-AU X 19718203 19718203 single base substitution G A intron_variant MELA-AU X 19718203 19718203 single base substitution G A upstream_gene_variant MELA-AU X 19718205 19718205 single base substitution A T intron_variant MELA-AU X 19718205 19718205 single base substitution A T upstream_gene_variant MELA-AU X 19718819 19718819 single base substitution C T intron_variant MELA-AU X 19718819 19718819 single base substitution C T upstream_gene_variant MELA-AU X 19720181 19720181 single base substitution T C intron_variant MELA-AU X 19720395 19720395 single base substitution G A intron_variant MELA-AU X 19720506 19720506 single base substitution G A intron_variant MELA-AU X 19721415 19721415 single base substitution G A intron_variant MELA-AU X 19721416 19721416 single base substitution G A intron_variant MELA-AU X 19721428 19721429 multiple base substitution (>=2bp and <=200bp) GA TC intron_variant MELA-AU X 19722153 19722153 single base substitution G A intron_variant MELA-AU X 19723191 19723191 single base substitution C A intron_variant MELA-AU X 19723389 19723389 single base substitution A C intron_variant MELA-AU X 19723713 19723713 single base substitution G A intron_variant MELA-AU X 19724493 19724493 single base substitution G A intron_variant MELA-AU X 19724746 19724746 single base substitution G A intron_variant MELA-AU X 19725795 19725795 single base substitution G A intron_variant MELA-AU X 19725986 19725986 single base substitution G A intron_variant MELA-AU X 19726122 19726122 single base substitution G A intron_variant MELA-AU X 19726415 19726415 single base substitution G A intron_variant MELA-AU X 19726597 19726597 single base substitution G A intron_variant MELA-AU X 19726650 19726650 single base substitution G A intron_variant MELA-AU X 19727120 19727120 single base substitution C T intron_variant MELA-AU X 19727275 19727275 single base substitution G A intron_variant MELA-AU X 19727298 19727298 single base substitution C T intron_variant MELA-AU X 19727559 19727559 single base substitution G A intron_variant MELA-AU X 19727577 19727577 single base substitution G A intron_variant MELA-AU X 19729210 19729210 single base substitution G A intron_variant MELA-AU X 19729964 19729964 single base substitution C T intron_variant MELA-AU X 19730041 19730041 single base substitution T C intron_variant MELA-AU X 19730233 19730233 single base substitution G A intron_variant MELA-AU X 19731624 19731624 single base substitution C T intron_variant MELA-AU X 19732671 19732671 single base substitution C T intron_variant MELA-AU X 19732980 19732980 single base substitution G A intron_variant MELA-AU X 19733140 19733140 single base substitution C T intron_variant MELA-AU X 19733183 19733184 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19733236 19733236 single base substitution G A intron_variant MELA-AU X 19733827 19733827 single base substitution G A intron_variant MELA-AU X 19735077 19735077 single base substitution G A intron_variant MELA-AU X 19735722 19735722 single base substitution C T intron_variant MELA-AU X 19736830 19736830 single base substitution C T intron_variant MELA-AU X 19738653 19738653 single base substitution G A intron_variant MELA-AU X 19739223 19739223 single base substitution G A intron_variant MELA-AU X 19739548 19739548 single base substitution G A intron_variant MELA-AU X 19739779 19739779 single base substitution G A intron_variant MELA-AU X 19740088 19740088 single base substitution C T intron_variant MELA-AU X 19741255 19741255 single base substitution C T intron_variant MELA-AU X 19741960 19741960 single base substitution G A intron_variant MELA-AU X 19742024 19742024 single base substitution G A intron_variant MELA-AU X 19743470 19743470 single base substitution C T intron_variant MELA-AU X 19743997 19743997 single base substitution T G intron_variant MELA-AU X 19744147 19744147 single base substitution G A intron_variant MELA-AU X 19745257 19745257 single base substitution C T intron_variant MELA-AU X 19748335 19748335 single base substitution T A intron_variant MELA-AU X 19748563 19748563 single base substitution C T intron_variant MELA-AU X 19748672 19748672 single base substitution G A intron_variant MELA-AU X 19748947 19748947 single base substitution G A intron_variant MELA-AU X 19749161 19749161 single base substitution G A intron_variant MELA-AU X 19749389 19749389 single base substitution G A intron_variant MELA-AU X 19749615 19749615 single base substitution C T intron_variant MELA-AU X 19750009 19750009 single base substitution T G intron_variant MELA-AU X 19750350 19750350 single base substitution C T intron_variant MELA-AU X 19750775 19750775 single base substitution G A intron_variant MELA-AU X 19750891 19750891 single base substitution G A intron_variant MELA-AU X 19750942 19750942 single base substitution C T intron_variant MELA-AU X 19751344 19751344 single base substitution A T intron_variant MELA-AU X 19751674 19751674 single base substitution G A intron_variant MELA-AU X 19752326 19752326 single base substitution C T intron_variant MELA-AU X 19752856 19752856 single base substitution G A intron_variant MELA-AU X 19754738 19754738 single base substitution T G intron_variant MELA-AU X 19754769 19754769 single base substitution G A intron_variant MELA-AU X 19755088 19755088 single base substitution G A intron_variant MELA-AU X 19755190 19755190 single base substitution A T intron_variant MELA-AU X 19755346 19755346 single base substitution A T intron_variant MELA-AU X 19755401 19755401 single base substitution G A intron_variant MELA-AU X 19755514 19755514 single base substitution C T intron_variant MELA-AU X 19755639 19755639 single base substitution T C intron_variant MELA-AU X 19755740 19755740 single base substitution G A intron_variant MELA-AU X 19756404 19756404 single base substitution C T intron_variant MELA-AU X 19758796 19758796 single base substitution A G intron_variant MELA-AU X 19759014 19759014 single base substitution G A intron_variant MELA-AU X 19759014 19759014 single base substitution G A upstream_gene_variant MELA-AU X 19759028 19759028 single base substitution G A intron_variant MELA-AU X 19759028 19759028 single base substitution G A upstream_gene_variant MELA-AU X 19759635 19759635 single base substitution A T intron_variant MELA-AU X 19759635 19759635 single base substitution A T upstream_gene_variant MELA-AU X 19760106 19760106 single base substitution G A intron_variant MELA-AU X 19760106 19760106 single base substitution G A upstream_gene_variant MELA-AU X 19760123 19760123 single base substitution G A intron_variant MELA-AU X 19760123 19760123 single base substitution G A upstream_gene_variant MELA-AU X 19761051 19761051 single base substitution G A intron_variant MELA-AU X 19761051 19761051 single base substitution G A upstream_gene_variant MELA-AU X 19761677 19761677 single base substitution C T intron_variant MELA-AU X 19761677 19761677 single base substitution C T upstream_gene_variant MELA-AU X 19762387 19762387 single base substitution A G intron_variant MELA-AU X 19762387 19762387 single base substitution A G upstream_gene_variant MELA-AU X 19762857 19762857 single base substitution C T intron_variant MELA-AU X 19762857 19762857 single base substitution C T upstream_gene_variant MELA-AU X 19764092 19764092 single base substitution G T intron_variant MELA-AU X 19765336 19765336 single base substitution C T intron_variant MELA-AU X 19765336 19765336 single base substitution C T upstream_gene_variant MELA-AU X 19765439 19765439 single base substitution T C intron_variant MELA-AU X 19765439 19765439 single base substitution T C upstream_gene_variant MELA-AU X 19765754 19765754 single base substitution C T intron_variant MELA-AU X 19765754 19765754 single base substitution C T upstream_gene_variant MELA-AU X 19766196 19766196 single base substitution G A intron_variant MELA-AU X 19766196 19766196 single base substitution G A upstream_gene_variant MELA-AU X 19766436 19766436 single base substitution G A intron_variant MELA-AU X 19766436 19766436 single base substitution G A upstream_gene_variant MELA-AU X 19767185 19767185 single base substitution G A intron_variant MELA-AU X 19767185 19767185 single base substitution G A upstream_gene_variant MELA-AU X 19767216 19767216 single base substitution C T intron_variant MELA-AU X 19767216 19767216 single base substitution C T upstream_gene_variant MELA-AU X 19767433 19767433 single base substitution G A intron_variant MELA-AU X 19767433 19767433 single base substitution G A upstream_gene_variant MELA-AU X 19768925 19768925 single base substitution C T intron_variant MELA-AU X 19768925 19768925 single base substitution C T upstream_gene_variant MELA-AU X 19769200 19769200 single base substitution C T intron_variant MELA-AU X 19769200 19769200 single base substitution C T upstream_gene_variant MELA-AU X 19769548 19769548 single base substitution G A intron_variant MELA-AU X 19769548 19769548 single base substitution G A upstream_gene_variant MELA-AU X 19769936 19769936 single base substitution C T intron_variant MELA-AU X 19769936 19769936 single base substitution C T upstream_gene_variant MELA-AU X 19771232 19771232 single base substitution C A intron_variant MELA-AU X 19772702 19772702 single base substitution C T intron_variant MELA-AU X 19772807 19772807 single base substitution G A intron_variant MELA-AU X 19773184 19773184 single base substitution G A intron_variant MELA-AU X 19773737 19773737 single base substitution G A intron_variant MELA-AU X 19773971 19773971 single base substitution C T intron_variant MELA-AU X 19774211 19774211 single base substitution C T intron_variant MELA-AU X 19774435 19774435 single base substitution T A intron_variant MELA-AU X 19774440 19774440 single base substitution A C intron_variant MELA-AU X 19774507 19774507 single base substitution A T intron_variant MELA-AU X 19774883 19774883 single base substitution G A intron_variant MELA-AU X 19775167 19775167 single base substitution C T intron_variant MELA-AU X 19775599 19775599 single base substitution C T intron_variant MELA-AU X 19776132 19776132 single base substitution C T intron_variant MELA-AU X 19776241 19776241 single base substitution C T intron_variant MELA-AU X 19776660 19776660 single base substitution G A intron_variant MELA-AU X 19778272 19778272 single base substitution G A intron_variant MELA-AU X 19778968 19778968 single base substitution G A intron_variant MELA-AU X 19779468 19779468 single base substitution G A intron_variant MELA-AU X 19779503 19779503 single base substitution G A intron_variant MELA-AU X 19779712 19779712 single base substitution G T intron_variant MELA-AU X 19780104 19780104 single base substitution G A intron_variant MELA-AU X 19780396 19780396 single base substitution G A intron_variant MELA-AU X 19781080 19781080 single base substitution C T intron_variant MELA-AU X 19781300 19781300 single base substitution T C intron_variant MELA-AU X 19781368 19781368 single base substitution G A intron_variant MELA-AU X 19781450 19781450 single base substitution C T intron_variant MELA-AU X 19781932 19781932 single base substitution G A intron_variant MELA-AU X 19782534 19782534 single base substitution C T intron_variant MELA-AU X 19782600 19782600 single base substitution G A intron_variant MELA-AU X 19782842 19782842 single base substitution G A intron_variant MELA-AU X 19783667 19783667 single base substitution T G intron_variant MELA-AU X 19783680 19783680 single base substitution G T intron_variant MELA-AU X 19784135 19784135 single base substitution G A intron_variant MELA-AU X 19785346 19785346 single base substitution C T intron_variant MELA-AU X 19785738 19785738 single base substitution G A intron_variant MELA-AU X 19786033 19786033 single base substitution G A intron_variant MELA-AU X 19786380 19786380 single base substitution G A intron_variant MELA-AU X 19786469 19786469 single base substitution T A intron_variant MELA-AU X 19786633 19786633 single base substitution G A intron_variant MELA-AU X 19786845 19786845 single base substitution C T intron_variant MELA-AU X 19786858 19786858 single base substitution C T intron_variant MELA-AU X 19786903 19786903 single base substitution G A intron_variant MELA-AU X 19787566 19787566 single base substitution C T intron_variant MELA-AU X 19788545 19788545 single base substitution T A intron_variant MELA-AU X 19788603 19788603 single base substitution G A intron_variant MELA-AU X 19788617 19788617 single base substitution A G intron_variant MELA-AU X 19789265 19789265 single base substitution G A intron_variant MELA-AU X 19789329 19789329 single base substitution G A intron_variant MELA-AU X 19789393 19789393 single base substitution A G intron_variant MELA-AU X 19789613 19789613 single base substitution G A intron_variant MELA-AU X 19789976 19789976 single base substitution C T intron_variant MELA-AU X 19790612 19790612 single base substitution G T intron_variant MELA-AU X 19791612 19791612 single base substitution A C intron_variant MELA-AU X 19791961 19791961 single base substitution G A intron_variant MELA-AU X 19793173 19793173 single base substitution G A intron_variant MELA-AU X 19793530 19793530 single base substitution C T intron_variant MELA-AU X 19793925 19793925 single base substitution T C intron_variant MELA-AU X 19794509 19794509 single base substitution G A intron_variant MELA-AU X 19794889 19794889 single base substitution C T intron_variant MELA-AU X 19795556 19795556 single base substitution C T intron_variant MELA-AU X 19795654 19795654 single base substitution G A intron_variant MELA-AU X 19795655 19795655 single base substitution G A intron_variant MELA-AU X 19796132 19796132 single base substitution G A intron_variant MELA-AU X 19796260 19796260 single base substitution G A intron_variant MELA-AU X 19796457 19796457 single base substitution G A intron_variant MELA-AU X 19799550 19799550 single base substitution A G intron_variant MELA-AU X 19799870 19799870 single base substitution G A intron_variant MELA-AU X 19800243 19800243 single base substitution A C intron_variant MELA-AU X 19800575 19800575 single base substitution G A intron_variant MELA-AU X 19800730 19800730 single base substitution G A intron_variant MELA-AU X 19801255 19801255 single base substitution G A intron_variant MELA-AU X 19801512 19801512 single base substitution G A intron_variant MELA-AU X 19801766 19801766 single base substitution C T intron_variant MELA-AU X 19802036 19802037 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19802188 19802188 single base substitution G A intron_variant MELA-AU X 19802257 19802257 single base substitution C T intron_variant MELA-AU X 19802380 19802380 single base substitution C T intron_variant MELA-AU X 19802399 19802399 single base substitution G A intron_variant MELA-AU X 19803089 19803089 single base substitution C T intron_variant MELA-AU X 19803336 19803336 single base substitution G A intron_variant MELA-AU X 19803337 19803337 single base substitution G A intron_variant MELA-AU X 19803818 19803818 single base substitution G A intron_variant MELA-AU X 19803872 19803872 single base substitution G A intron_variant MELA-AU X 19803882 19803882 single base substitution C T intron_variant MELA-AU X 19804285 19804285 single base substitution C T intron_variant MELA-AU X 19805610 19805610 single base substitution A C intron_variant MELA-AU X 19806534 19806534 single base substitution G A intron_variant MELA-AU X 19806577 19806577 single base substitution G A intron_variant MELA-AU X 19806932 19806932 single base substitution G A intron_variant MELA-AU X 19807325 19807325 single base substitution G A intron_variant MELA-AU X 19807625 19807625 single base substitution C T intron_variant MELA-AU X 19807736 19807736 single base substitution G A intron_variant MELA-AU X 19807881 19807881 single base substitution G A intron_variant MELA-AU X 19808359 19808359 single base substitution G A intron_variant MELA-AU X 19808778 19808778 single base substitution G A intron_variant MELA-AU X 19809243 19809243 single base substitution C T intron_variant MELA-AU X 19809767 19809767 single base substitution A C intron_variant MELA-AU X 19810145 19810145 single base substitution G A intron_variant MELA-AU X 19810444 19810444 single base substitution G A intron_variant MELA-AU X 19811108 19811108 single base substitution C T intron_variant MELA-AU X 19811435 19811435 single base substitution T A intron_variant MELA-AU X 19811815 19811815 single base substitution C T intron_variant MELA-AU X 19813507 19813507 single base substitution C T intron_variant MELA-AU X 19813857 19813857 single base substitution C T intron_variant MELA-AU X 19813922 19813922 single base substitution C T intron_variant MELA-AU X 19814722 19814722 single base substitution G A intron_variant MELA-AU X 19814763 19814763 single base substitution A G intron_variant MELA-AU X 19814911 19814911 single base substitution G A intron_variant MELA-AU X 19815243 19815243 single base substitution C T intron_variant MELA-AU X 19815437 19815437 single base substitution G A intron_variant MELA-AU X 19815596 19815596 single base substitution C T intron_variant MELA-AU X 19816196 19816196 single base substitution G A intron_variant MELA-AU X 19816584 19816584 single base substitution G A intron_variant MELA-AU X 19816585 19816585 single base substitution G A intron_variant MELA-AU X 19816813 19816813 single base substitution G A intron_variant MELA-AU X 19817317 19817317 single base substitution C T intron_variant MELA-AU X 19817529 19817529 single base substitution C T intron_variant MELA-AU X 19817815 19817815 single base substitution G A 5_prime_UTR_variant MELA-AU X 19817815 19817815 single base substitution G A intron_variant MELA-AU X 19818297 19818297 single base substitution T G intron_variant MELA-AU X 19818297 19818297 single base substitution T G upstream_gene_variant MELA-AU X 19818522 19818522 single base substitution G A intron_variant MELA-AU X 19818522 19818522 single base substitution G A upstream_gene_variant MELA-AU X 19818671 19818671 single base substitution G A intron_variant MELA-AU X 19818671 19818671 single base substitution G A upstream_gene_variant MELA-AU X 19818775 19818775 single base substitution G A intron_variant MELA-AU X 19818775 19818775 single base substitution G A upstream_gene_variant MELA-AU X 19819215 19819215 single base substitution C T intron_variant MELA-AU X 19819215 19819215 single base substitution C T upstream_gene_variant MELA-AU X 19820041 19820041 single base substitution G A intron_variant MELA-AU X 19820041 19820041 single base substitution G A upstream_gene_variant MELA-AU X 19821206 19821206 single base substitution C T intron_variant MELA-AU X 19821206 19821206 single base substitution C T upstream_gene_variant MELA-AU X 19824079 19824079 single base substitution A T intron_variant MELA-AU X 19824812 19824812 single base substitution G A intron_variant MELA-AU X 19824903 19824903 single base substitution C T intron_variant MELA-AU X 19824994 19824994 single base substitution C T intron_variant MELA-AU X 19826495 19826495 single base substitution G A intron_variant MELA-AU X 19826583 19826584 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19826945 19826945 single base substitution C T intron_variant MELA-AU X 19826981 19826981 single base substitution G A intron_variant MELA-AU X 19827153 19827153 single base substitution C T intron_variant MELA-AU X 19827460 19827461 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19830164 19830164 single base substitution A G intron_variant MELA-AU X 19830739 19830739 single base substitution G A intron_variant MELA-AU X 19830852 19830852 single base substitution G A intron_variant MELA-AU X 19831001 19831001 single base substitution G A intron_variant MELA-AU X 19831443 19831443 single base substitution C T intron_variant MELA-AU X 19832130 19832131 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19832630 19832630 single base substitution T A intron_variant MELA-AU X 19832968 19832968 single base substitution C A intron_variant MELA-AU X 19833218 19833218 single base substitution A G intron_variant MELA-AU X 19833741 19833741 single base substitution C T intron_variant MELA-AU X 19833776 19833776 single base substitution C T intron_variant MELA-AU X 19834086 19834086 single base substitution G A intron_variant MELA-AU X 19834225 19834225 single base substitution C A intron_variant MELA-AU X 19834368 19834368 single base substitution C T intron_variant MELA-AU X 19834901 19834901 single base substitution G A intron_variant MELA-AU X 19835233 19835233 single base substitution C T intron_variant MELA-AU X 19836266 19836266 single base substitution C T intron_variant MELA-AU X 19836624 19836624 single base substitution G A intron_variant MELA-AU X 19836954 19836954 single base substitution G A intron_variant MELA-AU X 19837050 19837050 single base substitution G A intron_variant MELA-AU X 19837565 19837566 multiple base substitution (>=2bp and <=200bp) CC AG intron_variant MELA-AU X 19837738 19837738 single base substitution G A intron_variant MELA-AU X 19838160 19838160 single base substitution C A intron_variant MELA-AU X 19838162 19838162 single base substitution A G intron_variant MELA-AU X 19839301 19839301 single base substitution G A intron_variant MELA-AU X 19839444 19839444 single base substitution G A intron_variant MELA-AU X 19839872 19839872 single base substitution C T intron_variant MELA-AU X 19840306 19840306 single base substitution G A intron_variant MELA-AU X 19840682 19840682 single base substitution G A intron_variant MELA-AU X 19841160 19841160 single base substitution G A intron_variant MELA-AU X 19841891 19841891 single base substitution G A intron_variant MELA-AU X 19842870 19842870 single base substitution G A intron_variant MELA-AU X 19843031 19843031 single base substitution G A intron_variant MELA-AU X 19843333 19843333 single base substitution G A intron_variant MELA-AU X 19843513 19843513 single base substitution T C intron_variant MELA-AU X 19846194 19846194 single base substitution G A intron_variant MELA-AU X 19846601 19846601 single base substitution A G intron_variant MELA-AU X 19846745 19846745 single base substitution C G intron_variant MELA-AU X 19847328 19847328 single base substitution G A intron_variant MELA-AU X 19847497 19847497 single base substitution G A intron_variant MELA-AU X 19847524 19847524 single base substitution G A intron_variant MELA-AU X 19847790 19847790 single base substitution G A intron_variant MELA-AU X 19847981 19847981 single base substitution G A intron_variant MELA-AU X 19848523 19848523 single base substitution C T intron_variant MELA-AU X 19849002 19849002 single base substitution A G intron_variant MELA-AU X 19849464 19849464 single base substitution C T intron_variant MELA-AU X 19849817 19849817 single base substitution G A intron_variant MELA-AU X 19849863 19849863 single base substitution C T intron_variant MELA-AU X 19850030 19850030 single base substitution G A intron_variant MELA-AU X 19850200 19850200 single base substitution C T intron_variant MELA-AU X 19850431 19850431 single base substitution G A intron_variant MELA-AU X 19850591 19850591 single base substitution G A intron_variant MELA-AU X 19851439 19851439 single base substitution C T intron_variant MELA-AU X 19851498 19851498 single base substitution T G intron_variant MELA-AU X 19851665 19851665 single base substitution C T intron_variant MELA-AU X 19851698 19851698 single base substitution C T intron_variant MELA-AU X 19851936 19851937 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU X 19851980 19851980 single base substitution C T intron_variant MELA-AU X 19852582 19852582 single base substitution G A intron_variant MELA-AU X 19853129 19853129 single base substitution A C intron_variant MELA-AU X 19853192 19853192 single base substitution G A intron_variant MELA-AU X 19853270 19853270 single base substitution T C intron_variant MELA-AU X 19853453 19853453 single base substitution C T intron_variant MELA-AU X 19853807 19853807 single base substitution C A intron_variant MELA-AU X 19853971 19853971 single base substitution G A intron_variant MELA-AU X 19854218 19854218 single base substitution G A intron_variant MELA-AU X 19854724 19854724 single base substitution G A intron_variant MELA-AU X 19854869 19854869 single base substitution C T intron_variant MELA-AU X 19854921 19854921 single base substitution G A intron_variant MELA-AU X 19855257 19855257 single base substitution A G intron_variant MELA-AU X 19855697 19855697 single base substitution C T intron_variant MELA-AU X 19855991 19855991 single base substitution G A intron_variant MELA-AU X 19856695 19856695 single base substitution G A intron_variant MELA-AU X 19856783 19856783 single base substitution G A intron_variant MELA-AU X 19856847 19856847 single base substitution A T intron_variant MELA-AU X 19858812 19858812 single base substitution G A intron_variant MELA-AU X 19859542 19859542 single base substitution C T intron_variant MELA-AU X 19859865 19859865 single base substitution C T intron_variant MELA-AU X 19861750 19861750 single base substitution C T intron_variant MELA-AU X 19862034 19862034 single base substitution G A intron_variant MELA-AU X 19862421 19862421 single base substitution A T intron_variant MELA-AU X 19862423 19862423 single base substitution A T intron_variant MELA-AU X 19863173 19863173 single base substitution G A intron_variant MELA-AU X 19863919 19863919 single base substitution G A intron_variant MELA-AU X 19864419 19864419 single base substitution C T intron_variant MELA-AU X 19866705 19866705 single base substitution C T intron_variant MELA-AU X 19866841 19866841 single base substitution C T intron_variant MELA-AU X 19867868 19867868 single base substitution C T intron_variant MELA-AU X 19868405 19868405 single base substitution G A intron_variant MELA-AU X 19868839 19868839 single base substitution C T intron_variant MELA-AU X 19869287 19869287 single base substitution G A intron_variant MELA-AU X 19869349 19869349 single base substitution G A intron_variant MELA-AU X 19869633 19869633 single base substitution G A intron_variant MELA-AU X 19870776 19870776 single base substitution T G intron_variant MELA-AU X 19871409 19871410 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19872069 19872069 single base substitution G A intron_variant MELA-AU X 19872085 19872085 single base substitution A C intron_variant MELA-AU X 19872843 19872843 single base substitution C T intron_variant MELA-AU X 19874873 19874874 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19875819 19875819 single base substitution G A intron_variant MELA-AU X 19876340 19876341 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 19876638 19876638 single base substitution C T intron_variant MELA-AU X 19876683 19876683 single base substitution C T intron_variant MELA-AU X 19876865 19876865 single base substitution C T intron_variant MELA-AU X 19876896 19876896 single base substitution C T intron_variant MELA-AU X 19877567 19877567 single base substitution G A intron_variant MELA-AU X 19877639 19877639 single base substitution G A intron_variant MELA-AU X 19878710 19878710 single base substitution A G intron_variant MELA-AU X 19878797 19878797 deletion of <=200bp A - intron_variant MELA-AU X 19879265 19879265 single base substitution C T intron_variant MELA-AU X 19879323 19879323 single base substitution T A intron_variant MELA-AU X 19879347 19879347 single base substitution T C intron_variant MELA-AU X 19879559 19879559 single base substitution G A intron_variant MELA-AU X 19880330 19880330 single base substitution G C intron_variant MELA-AU X 19880558 19880558 single base substitution G A intron_variant MELA-AU X 19880560 19880560 single base substitution A G intron_variant MELA-AU X 19881451 19881451 single base substitution G A intron_variant MELA-AU X 19881596 19881596 single base substitution G A intron_variant MELA-AU X 19881802 19881802 single base substitution G A intron_variant MELA-AU X 19882454 19882454 single base substitution G A intron_variant MELA-AU X 19882563 19882563 single base substitution G A intron_variant MELA-AU X 19882660 19882660 single base substitution G T intron_variant MELA-AU X 19882731 19882731 single base substitution G A intron_variant MELA-AU X 19883017 19883017 single base substitution C T intron_variant MELA-AU X 19883746 19883746 single base substitution C T intron_variant MELA-AU X 19884627 19884627 single base substitution G A intron_variant MELA-AU X 19884830 19884830 single base substitution A G intron_variant MELA-AU X 19885689 19885689 single base substitution C T intron_variant MELA-AU X 19885741 19885741 single base substitution G A intron_variant MELA-AU X 19885961 19885961 single base substitution G A intron_variant MELA-AU X 19886004 19886004 single base substitution G A intron_variant MELA-AU X 19886355 19886355 single base substitution C T intron_variant MELA-AU X 19886423 19886423 single base substitution C T intron_variant MELA-AU X 19886696 19886696 single base substitution C T intron_variant MELA-AU X 19887007 19887007 single base substitution G A intron_variant MELA-AU X 19887245 19887245 single base substitution G A intron_variant MELA-AU X 19887381 19887381 single base substitution G A intron_variant MELA-AU X 19887451 19887451 single base substitution C T intron_variant MELA-AU X 19887552 19887552 single base substitution G A intron_variant MELA-AU X 19888212 19888212 single base substitution C A intron_variant MELA-AU X 19888317 19888317 single base substitution G A intron_variant MELA-AU X 19889080 19889080 single base substitution G A intron_variant MELA-AU X 19889129 19889129 single base substitution A G intron_variant MELA-AU X 19889264 19889264 single base substitution A G intron_variant MELA-AU X 19889302 19889302 single base substitution T A intron_variant MELA-AU X 19890303 19890303 single base substitution G A intron_variant MELA-AU X 19890584 19890584 single base substitution G A intron_variant MELA-AU X 19890716 19890716 single base substitution C T intron_variant MELA-AU X 19891205 19891205 single base substitution C T intron_variant MELA-AU X 19891222 19891222 single base substitution G A intron_variant MELA-AU X 19891683 19891683 single base substitution G A intron_variant MELA-AU X 19891793 19891793 single base substitution A G intron_variant MELA-AU X 19892753 19892753 single base substitution G A intron_variant MELA-AU X 19893398 19893398 single base substitution G A intron_variant MELA-AU X 19894054 19894054 single base substitution C T intron_variant MELA-AU X 19894266 19894266 single base substitution C T intron_variant MELA-AU X 19894282 19894282 single base substitution G A intron_variant MELA-AU X 19894868 19894868 single base substitution G A intron_variant MELA-AU X 19894882 19894882 single base substitution C T intron_variant MELA-AU X 19894912 19894912 single base substitution C T intron_variant MELA-AU X 19895156 19895156 single base substitution C T intron_variant MELA-AU X 19895499 19895499 single base substitution G A intron_variant MELA-AU X 19896377 19896377 single base substitution G A intron_variant MELA-AU X 19897016 19897016 single base substitution C T intron_variant MELA-AU X 19898080 19898080 single base substitution T C intron_variant MELA-AU X 19898818 19898818 single base substitution G A intron_variant MELA-AU X 19899019 19899019 single base substitution G A intron_variant MELA-AU X 19899767 19899767 single base substitution G A intron_variant MELA-AU X 19900172 19900172 single base substitution A C intron_variant MELA-AU X 19900212 19900212 single base substitution G A intron_variant MELA-AU X 19900815 19900815 single base substitution A T intron_variant MELA-AU X 19900817 19900817 single base substitution A T intron_variant MELA-AU X 19901183 19901183 single base substitution C T intron_variant MELA-AU X 19901317 19901317 single base substitution G C intron_variant MELA-AU X 19901800 19901800 single base substitution G C intron_variant MELA-AU X 19901805 19901805 single base substitution G A intron_variant MELA-AU X 19902336 19902336 single base substitution G A intron_variant MELA-AU X 19902471 19902471 single base substitution G A intron_variant MELA-AU X 19903611 19903611 single base substitution A T intron_variant MELA-AU X 19906214 19906214 single base substitution G A upstream_gene_variant MELA-AU X 19906350 19906350 single base substitution G A upstream_gene_variant MELA-AU X 19906358 19906358 single base substitution G A upstream_gene_variant MELA-AU X 19906626 19906626 single base substitution C T upstream_gene_variant MELA-AU X 19906934 19906934 single base substitution G A upstream_gene_variant MELA-AU X 19907378 19907378 single base substitution G A upstream_gene_variant MELA-AU X 19907858 19907858 single base substitution C T upstream_gene_variant MELA-AU X 19907912 19907912 single base substitution G T upstream_gene_variant MELA-AU X 19908551 19908551 single base substitution G A upstream_gene_variant MELA-AU X 19908687 19908687 single base substitution C T upstream_gene_variant MELA-AU X 19908853 19908853 single base substitution G A upstream_gene_variant MELA-AU X 19909994 19909994 single base substitution G A upstream_gene_variant ORCA-IN X 19587829 19587829 single base substitution C G intron_variant ORCA-IN X 19590740 19590740 single base substitution T C intron_variant ORCA-IN X 19617887 19617887 single base substitution A G intron_variant ORCA-IN X 19645533 19645533 single base substitution C G intron_variant ORCA-IN X 19646991 19646991 single base substitution G A intron_variant ORCA-IN X 19684241 19684241 single base substitution G A intron_variant ORCA-IN X 19684241 19684241 single base substitution G A upstream_gene_variant ORCA-IN X 19708390 19708390 single base substitution G A intron_variant ORCA-IN X 19716083 19716083 single base substitution C T intron_variant ORCA-IN X 19716083 19716083 single base substitution C T upstream_gene_variant ORCA-IN X 19723510 19723510 single base substitution T A intron_variant ORCA-IN X 19728834 19728834 single base substitution A T intron_variant ORCA-IN X 19764841 19764841 single base substitution G T intron_variant ORCA-IN X 19764841 19764841 single base substitution G T upstream_gene_variant ORCA-IN X 19779818 19779818 single base substitution C A intron_variant ORCA-IN X 19809669 19809670 deletion of <=200bp AC - intron_variant ORCA-IN X 19813520 19813520 single base substitution C T intron_variant ORCA-IN X 19814069 19814069 single base substitution C T intron_variant ORCA-IN X 19818938 19818938 single base substitution C G intron_variant ORCA-IN X 19818938 19818938 single base substitution C G upstream_gene_variant ORCA-IN X 19837965 19837965 single base substitution G T intron_variant ORCA-IN X 19845695 19845695 single base substitution A C intron_variant ORCA-IN X 19886260 19886260 single base substitution G A intron_variant OV-AU X 19551660 19551660 single base substitution A G downstream_gene_variant OV-AU X 19551876 19551876 single base substitution G T downstream_gene_variant OV-AU X 19555674 19555674 single base substitution C T intron_variant OV-AU X 19560771 19560771 single base substitution C A intron_variant OV-AU X 19563745 19563745 single base substitution T G intron_variant OV-AU X 19564760 19564760 single base substitution T C intron_variant OV-AU X 19565490 19565490 single base substitution C T intron_variant OV-AU X 19567842 19567842 single base substitution A T intron_variant OV-AU X 19574904 19574904 single base substitution T C intron_variant OV-AU X 19575639 19575639 single base substitution C G intron_variant OV-AU X 19580023 19580023 single base substitution G C intron_variant OV-AU X 19581344 19581344 single base substitution T C intron_variant OV-AU X 19582570 19582570 single base substitution C G intron_variant OV-AU X 19590136 19590136 single base substitution T A intron_variant OV-AU X 19593652 19593652 single base substitution C T intron_variant OV-AU X 19594182 19594182 single base substitution C G intron_variant OV-AU X 19600126 19600126 single base substitution C G intron_variant OV-AU X 19601839 19601839 single base substitution C T downstream_gene_variant OV-AU X 19601839 19601839 single base substitution C T intron_variant OV-AU X 19612996 19612996 single base substitution C A intron_variant OV-AU X 19615602 19615602 single base substitution C T intron_variant OV-AU X 19625950 19625950 single base substitution G A intron_variant OV-AU X 19635603 19635603 single base substitution A T intron_variant OV-AU X 19640706 19640706 single base substitution A G intron_variant OV-AU X 19642927 19642927 single base substitution T C intron_variant OV-AU X 19645042 19645042 single base substitution G A intron_variant OV-AU X 19659449 19659449 single base substitution T G downstream_gene_variant OV-AU X 19659449 19659449 single base substitution T G intron_variant OV-AU X 19679965 19679965 single base substitution G C intron_variant OV-AU X 19681221 19681221 single base substitution T C intron_variant OV-AU X 19692534 19692534 single base substitution C T intron_variant OV-AU X 19692534 19692534 single base substitution C T upstream_gene_variant OV-AU X 19699945 19699945 single base substitution T A downstream_gene_variant OV-AU X 19699945 19699945 single base substitution T A intron_variant OV-AU X 19719669 19719669 single base substitution C T intron_variant OV-AU X 19723070 19723070 single base substitution G A intron_variant OV-AU X 19735199 19735199 single base substitution C T intron_variant OV-AU X 19736522 19736522 single base substitution C A intron_variant OV-AU X 19739311 19739311 single base substitution G A intron_variant OV-AU X 19746105 19746105 single base substitution T G intron_variant OV-AU X 19746164 19746164 single base substitution T A intron_variant OV-AU X 19748906 19748906 single base substitution G T intron_variant OV-AU X 19750683 19750683 single base substitution T C intron_variant OV-AU X 19751574 19751574 single base substitution T G intron_variant OV-AU X 19769350 19769350 single base substitution C A intron_variant OV-AU X 19769350 19769350 single base substitution C A upstream_gene_variant OV-AU X 19769351 19769351 single base substitution T C intron_variant OV-AU X 19769351 19769351 single base substitution T C upstream_gene_variant OV-AU X 19771059 19771059 single base substitution C T intron_variant OV-AU X 19771431 19771431 single base substitution C T intron_variant OV-AU X 19775006 19775006 single base substitution A T intron_variant OV-AU X 19780827 19780827 single base substitution C G intron_variant OV-AU X 19789825 19789825 single base substitution T A intron_variant OV-AU X 19791219 19791219 single base substitution T G intron_variant OV-AU X 19792762 19792762 single base substitution G A intron_variant OV-AU X 19813135 19813135 single base substitution T A intron_variant OV-AU X 19814335 19814335 single base substitution C T intron_variant OV-AU X 19821825 19821825 single base substitution C T intron_variant OV-AU X 19821825 19821825 single base substitution C T upstream_gene_variant OV-AU X 19825427 19825427 single base substitution G A intron_variant OV-AU X 19840762 19840762 single base substitution T G intron_variant OV-AU X 19844540 19844540 single base substitution T C intron_variant OV-AU X 19844967 19844967 single base substitution T A intron_variant OV-AU X 19865158 19865158 single base substitution C T intron_variant OV-AU X 19873001 19873001 single base substitution C T intron_variant OV-AU X 19893504 19893504 single base substitution G C intron_variant OV-AU X 19903060 19903060 single base substitution T C intron_variant OV-AU X 19904662 19904662 single base substitution G A intron_variant OV-AU X 19908101 19908101 single base substitution A C upstream_gene_variant PACA-AU X 19552173 19552173 single base substitution T C 3_prime_UTR_variant PACA-AU X 19552173 19552173 single base substitution T C downstream_gene_variant PACA-AU X 19553424 19553424 single base substitution G A 3_prime_UTR_variant PACA-AU X 19553424 19553424 single base substitution G A downstream_gene_variant PACA-AU X 19559379 19559379 single base substitution C T intron_variant PACA-AU X 19564126 19564126 single base substitution C T missense_variant E252K 754G>A PACA-AU X 19564126 19564126 single base substitution C T missense_variant E275K 823G>A PACA-AU X 19564126 19564126 single base substitution C T missense_variant E476K 1426G>A PACA-AU X 19564126 19564126 single base substitution C T missense_variant E493K 1477G>A PACA-AU X 19564126 19564126 single base substitution C T missense_variant E513K 1537G>A PACA-AU X 19567380 19567380 insertion of <=200bp - A intron_variant PACA-AU X 19567966 19567966 single base substitution G C intron_variant PACA-AU X 19575674 19575674 single base substitution C T intron_variant PACA-AU X 19580465 19580465 deletion of <=200bp G - intron_variant PACA-AU X 19588518 19588518 single base substitution G A intron_variant PACA-AU X 19589316 19589316 single base substitution G A intron_variant PACA-AU X 19592901 19592901 single base substitution T G intron_variant PACA-AU X 19593592 19593592 single base substitution T A intron_variant PACA-AU X 19600575 19600575 single base substitution G A intron_variant PACA-AU X 19609615 19609615 single base substitution G A downstream_gene_variant PACA-AU X 19609615 19609615 single base substitution G A intron_variant PACA-AU X 19610532 19610532 single base substitution T G intron_variant PACA-AU X 19611174 19611174 single base substitution C A intron_variant PACA-AU X 19615929 19615929 single base substitution A T intron_variant PACA-AU X 19618549 19618561 deletion of <=200bp CAGGAAGACAAGG - intron_variant PACA-AU X 19619979 19619979 single base substitution C T intron_variant PACA-AU X 19626751 19626751 single base substitution G A intron_variant PACA-AU X 19627007 19627007 single base substitution C T intron_variant PACA-AU X 19627649 19627649 single base substitution C T intron_variant PACA-AU X 19632029 19632029 single base substitution C A intron_variant PACA-AU X 19632047 19632047 single base substitution G C intron_variant PACA-AU X 19641519 19641520 deletion of <=200bp CC - intron_variant PACA-AU X 19644501 19644501 single base substitution T A intron_variant PACA-AU X 19646143 19646143 single base substitution G C intron_variant PACA-AU X 19649207 19649215 deletion of <=200bp CTAAGTTCC - intron_variant PACA-AU X 19652294 19652294 single base substitution G C intron_variant PACA-AU X 19654664 19654664 insertion of <=200bp - A intron_variant PACA-AU X 19656211 19656211 single base substitution A C intron_variant PACA-AU X 19659219 19659219 single base substitution G A downstream_gene_variant PACA-AU X 19659219 19659219 single base substitution G A intron_variant PACA-AU X 19659291 19659291 single base substitution G A downstream_gene_variant PACA-AU X 19659291 19659291 single base substitution G A intron_variant PACA-AU X 19660978 19660978 single base substitution G A downstream_gene_variant PACA-AU X 19660978 19660978 single base substitution G A intron_variant PACA-AU X 19661437 19661437 single base substitution T A downstream_gene_variant PACA-AU X 19661437 19661437 single base substitution T A intron_variant PACA-AU X 19678697 19678697 single base substitution A T intron_variant PACA-AU X 19681850 19681850 single base substitution C T intron_variant PACA-AU X 19682363 19682363 single base substitution C T intron_variant PACA-AU X 19682480 19682480 deletion of <=200bp A - intron_variant PACA-AU X 19682826 19682826 single base substitution T A exon_variant PACA-AU X 19682826 19682826 single base substitution T A intron_variant PACA-AU X 19706502 19706502 single base substitution C G intron_variant PACA-AU X 19707162 19707162 single base substitution T G intron_variant PACA-AU X 19714815 19714815 single base substitution C G intron_variant PACA-AU X 19714815 19714815 single base substitution C G upstream_gene_variant PACA-AU X 19717440 19717440 single base substitution C A intron_variant PACA-AU X 19717440 19717440 single base substitution C A upstream_gene_variant PACA-AU X 19728718 19728718 single base substitution A G intron_variant PACA-AU X 19735706 19735706 single base substitution C T intron_variant PACA-AU X 19750812 19750812 single base substitution G A intron_variant PACA-AU X 19751604 19751604 deletion of <=200bp A - intron_variant PACA-AU X 19752048 19752048 single base substitution C T intron_variant PACA-AU X 19753160 19753160 single base substitution G T intron_variant PACA-AU X 19756867 19756867 single base substitution G A intron_variant PACA-AU X 19758941 19758941 single base substitution G A 5_prime_UTR_variant PACA-AU X 19758941 19758941 single base substitution G A intron_variant PACA-AU X 19760376 19760376 single base substitution A G intron_variant PACA-AU X 19760376 19760376 single base substitution A G upstream_gene_variant PACA-AU X 19760667 19760667 single base substitution T A intron_variant PACA-AU X 19760667 19760667 single base substitution T A upstream_gene_variant PACA-AU X 19764939 19764939 single base substitution C G intron_variant PACA-AU X 19764939 19764939 single base substitution C G upstream_gene_variant PACA-AU X 19767833 19767833 single base substitution G C intron_variant PACA-AU X 19767833 19767833 single base substitution G C upstream_gene_variant PACA-AU X 19770902 19770902 single base substitution G A intron_variant PACA-AU X 19788194 19788194 single base substitution C T intron_variant PACA-AU X 19801508 19801508 single base substitution G A intron_variant PACA-AU X 19804684 19804684 single base substitution T C intron_variant PACA-AU X 19806405 19806405 single base substitution A C intron_variant PACA-AU X 19807771 19807771 single base substitution G A intron_variant PACA-AU X 19807847 19807847 single base substitution A G intron_variant PACA-AU X 19810017 19810017 single base substitution A T intron_variant PACA-AU X 19811983 19811983 single base substitution G A intron_variant PACA-AU X 19818204 19818204 single base substitution T C intron_variant PACA-AU X 19818204 19818204 single base substitution T C upstream_gene_variant PACA-AU X 19821265 19821265 single base substitution A C intron_variant PACA-AU X 19821265 19821265 single base substitution A C upstream_gene_variant PACA-AU X 19823922 19823922 single base substitution G A intron_variant PACA-AU X 19832598 19832598 single base substitution C T intron_variant PACA-AU X 19834725 19834725 single base substitution G A intron_variant PACA-AU X 19838950 19838950 single base substitution T C intron_variant PACA-AU X 19840347 19840347 single base substitution T C intron_variant PACA-AU X 19843066 19843066 single base substitution C T intron_variant PACA-AU X 19854002 19854002 single base substitution C T intron_variant PACA-AU X 19855885 19855885 single base substitution C T intron_variant PACA-AU X 19858598 19858598 single base substitution G C intron_variant PACA-AU X 19864531 19864531 deletion of <=200bp T - intron_variant PACA-AU X 19868219 19868219 single base substitution A T intron_variant PACA-AU X 19874414 19874414 single base substitution T C intron_variant PACA-AU X 19878264 19878264 single base substitution G C intron_variant PACA-AU X 19882435 19882435 deletion of <=200bp C - intron_variant PACA-AU X 19886035 19886035 single base substitution G A intron_variant PACA-AU X 19895205 19895205 single base substitution C G intron_variant PACA-AU X 19895995 19895995 single base substitution G A intron_variant PACA-AU X 19905257 19905257 single base substitution C T intron_variant PACA-AU X 19908422 19908422 single base substitution C T upstream_gene_variant PACA-AU X 19910052 19910052 single base substitution C T upstream_gene_variant PACA-AU X 19910595 19910595 single base substitution A G upstream_gene_variant PACA-CA X 19548541 19548541 single base substitution C T downstream_gene_variant PACA-CA X 19548804 19548804 single base substitution C A downstream_gene_variant PACA-CA X 19550210 19550210 deletion of <=200bp T - downstream_gene_variant PACA-CA X 19551237 19551237 single base substitution C T downstream_gene_variant PACA-CA X 19552723 19552723 single base substitution C T 3_prime_UTR_variant PACA-CA X 19552723 19552723 single base substitution C T downstream_gene_variant PACA-CA X 19556657 19556657 single base substitution A G intron_variant PACA-CA X 19558463 19558463 single base substitution G A intron_variant PACA-CA X 19559396 19559396 single base substitution T C intron_variant PACA-CA X 19565090 19565090 single base substitution C T intron_variant PACA-CA X 19566016 19566016 single base substitution T C intron_variant PACA-CA X 19569105 19569106 deletion of <=200bp AA - intron_variant PACA-CA X 19569992 19569992 insertion of <=200bp - C intron_variant PACA-CA X 19570985 19570985 single base substitution G A intron_variant PACA-CA X 19583471 19583471 single base substitution C T intron_variant PACA-CA X 19583689 19583689 single base substitution T C intron_variant PACA-CA X 19584319 19584320 deletion of <=200bp AG - intron_variant PACA-CA X 19585088 19585088 single base substitution T C intron_variant PACA-CA X 19587970 19587970 single base substitution C A intron_variant PACA-CA X 19591306 19591306 single base substitution T A intron_variant PACA-CA X 19592813 19592813 single base substitution C T intron_variant PACA-CA X 19598047 19598047 single base substitution T G intron_variant PACA-CA X 19604258 19604258 single base substitution C T downstream_gene_variant PACA-CA X 19604258 19604258 single base substitution C T intron_variant PACA-CA X 19605504 19605504 single base substitution C G downstream_gene_variant PACA-CA X 19605504 19605504 single base substitution C G intron_variant PACA-CA X 19611503 19611503 single base substitution T C intron_variant PACA-CA X 19613234 19613234 deletion of <=200bp A - intron_variant PACA-CA X 19618371 19618371 single base substitution G A intron_variant PACA-CA X 19618728 19618728 single base substitution T A intron_variant PACA-CA X 19619864 19619864 single base substitution G A intron_variant PACA-CA X 19621909 19621909 single base substitution G A intron_variant PACA-CA X 19625778 19625778 single base substitution A T intron_variant PACA-CA X 19626605 19626605 single base substitution T C intron_variant PACA-CA X 19629448 19629448 single base substitution T C intron_variant PACA-CA X 19630296 19630296 single base substitution A G intron_variant PACA-CA X 19633075 19633075 single base substitution A G intron_variant PACA-CA X 19633178 19633178 single base substitution A G intron_variant PACA-CA X 19640087 19640087 single base substitution T A intron_variant PACA-CA X 19642030 19642030 single base substitution G C intron_variant PACA-CA X 19644061 19644061 single base substitution T C intron_variant PACA-CA X 19644849 19644849 single base substitution C G intron_variant PACA-CA X 19647123 19647146 deletion of <=200bp GCTGAGGTGGGAGAATCGCACGAA - intron_variant PACA-CA X 19648381 19648381 single base substitution T A intron_variant PACA-CA X 19648751 19648751 single base substitution G A intron_variant PACA-CA X 19651329 19651329 single base substitution C T intron_variant PACA-CA X 19657964 19657964 single base substitution G T intron_variant PACA-CA X 19659170 19659170 single base substitution C A downstream_gene_variant PACA-CA X 19659170 19659170 single base substitution C A intron_variant PACA-CA X 19662356 19662356 single base substitution T G downstream_gene_variant PACA-CA X 19662356 19662356 single base substitution T G intron_variant PACA-CA X 19667176 19667176 single base substitution G A intron_variant PACA-CA X 19667391 19667391 deletion of <=200bp G - intron_variant PACA-CA X 19668066 19668066 single base substitution C T intron_variant PACA-CA X 19676677 19676680 deletion of <=200bp TCTT - intron_variant PACA-CA X 19676833 19676833 single base substitution C T intron_variant PACA-CA X 19679472 19679472 single base substitution A G intron_variant PACA-CA X 19680888 19680888 deletion of <=200bp C - intron_variant PACA-CA X 19689196 19689196 single base substitution G A intron_variant PACA-CA X 19689196 19689196 single base substitution G A upstream_gene_variant PACA-CA X 19693238 19693238 single base substitution C T intron_variant PACA-CA X 19693238 19693238 single base substitution C T upstream_gene_variant PACA-CA X 19696958 19696958 single base substitution C T downstream_gene_variant PACA-CA X 19696958 19696958 single base substitution C T intron_variant PACA-CA X 19702885 19702885 single base substitution T A intron_variant PACA-CA X 19703971 19703971 single base substitution C T intron_variant PACA-CA X 19708521 19708521 single base substitution G C intron_variant PACA-CA X 19709474 19709474 single base substitution C A intron_variant PACA-CA X 19712584 19712584 insertion of <=200bp - C intron_variant PACA-CA X 19713483 19713483 single base substitution G A intron_variant PACA-CA X 19715356 19715356 single base substitution A G intron_variant PACA-CA X 19715356 19715356 single base substitution A G upstream_gene_variant PACA-CA X 19716381 19716381 single base substitution C T intron_variant PACA-CA X 19716381 19716381 single base substitution C T upstream_gene_variant PACA-CA X 19717511 19717511 single base substitution C A intron_variant PACA-CA X 19717511 19717511 single base substitution C A upstream_gene_variant PACA-CA X 19720592 19720592 single base substitution G A intron_variant PACA-CA X 19720949 19720949 single base substitution C T intron_variant PACA-CA X 19733052 19733052 single base substitution G C intron_variant PACA-CA X 19736079 19736115 deletion of <=200bp ATGCATATATGCACAGAGATCTACATGTGAAACCTGG - intron_variant PACA-CA X 19746655 19746655 single base substitution G T intron_variant PACA-CA X 19749218 19749218 single base substitution C T intron_variant PACA-CA X 19754932 19754932 single base substitution T C intron_variant PACA-CA X 19761577 19761577 single base substitution G A intron_variant PACA-CA X 19761577 19761577 single base substitution G A upstream_gene_variant PACA-CA X 19778349 19778349 insertion of <=200bp - A intron_variant PACA-CA X 19783666 19783666 single base substitution T A intron_variant PACA-CA X 19785653 19785653 single base substitution G A intron_variant PACA-CA X 19786400 19786400 single base substitution T C intron_variant PACA-CA X 19791701 19791701 single base substitution G A intron_variant PACA-CA X 19794215 19794215 single base substitution G A intron_variant PACA-CA X 19804709 19804709 single base substitution T C intron_variant PACA-CA X 19813968 19813968 single base substitution G A intron_variant PACA-CA X 19813982 19813982 single base substitution A G intron_variant PACA-CA X 19816109 19816109 single base substitution A T intron_variant PACA-CA X 19817323 19817323 single base substitution C T intron_variant PACA-CA X 19817770 19817770 single base substitution G A intron_variant PACA-CA X 19817770 19817770 single base substitution G A synonymous_variant A11A 33C>T PACA-CA X 19818574 19818574 single base substitution G C intron_variant PACA-CA X 19818574 19818574 single base substitution G C upstream_gene_variant PACA-CA X 19827446 19827446 single base substitution A G intron_variant PACA-CA X 19829361 19829361 single base substitution A C intron_variant PACA-CA X 19829711 19829711 single base substitution A G intron_variant PACA-CA X 19831131 19831131 single base substitution C T intron_variant PACA-CA X 19832512 19832512 single base substitution C T intron_variant PACA-CA X 19841823 19841834 deletion of <=200bp GAGTAGAATCTT - intron_variant PACA-CA X 19842286 19842286 single base substitution A G intron_variant PACA-CA X 19845323 19845323 single base substitution G A intron_variant PACA-CA X 19846008 19846008 single base substitution A C intron_variant PACA-CA X 19846079 19846079 single base substitution T G intron_variant PACA-CA X 19846393 19846393 single base substitution C T intron_variant PACA-CA X 19847751 19847751 single base substitution C T intron_variant PACA-CA X 19849632 19849632 single base substitution G A intron_variant PACA-CA X 19850948 19850948 single base substitution G A intron_variant PACA-CA X 19851593 19851593 single base substitution T C intron_variant PACA-CA X 19856937 19856937 single base substitution G A intron_variant PACA-CA X 19863488 19863488 single base substitution C T intron_variant PACA-CA X 19866819 19866819 single base substitution G A intron_variant PACA-CA X 19867922 19867922 single base substitution A T intron_variant PACA-CA X 19871005 19871005 deletion of <=200bp A - intron_variant PACA-CA X 19873996 19873996 single base substitution A C intron_variant PACA-CA X 19883878 19883878 single base substitution G C intron_variant PACA-CA X 19883917 19883917 single base substitution G C intron_variant PACA-CA X 19884872 19884872 single base substitution G A intron_variant PACA-CA X 19888707 19888707 single base substitution G A intron_variant PACA-CA X 19890154 19890154 single base substitution G A intron_variant PACA-CA X 19890953 19890953 single base substitution A T intron_variant PACA-CA X 19898334 19898334 single base substitution C G intron_variant PACA-CA X 19898403 19898403 single base substitution A G intron_variant PACA-CA X 19909653 19909653 single base substitution C A upstream_gene_variant PAEN-AU X 19572755 19572755 single base substitution G A intron_variant PAEN-AU X 19618295 19618295 single base substitution G A intron_variant PAEN-AU X 19684986 19684986 single base substitution G T intron_variant PAEN-AU X 19684986 19684986 single base substitution G T upstream_gene_variant PAEN-AU X 19684987 19684987 single base substitution C T intron_variant PAEN-AU X 19684987 19684987 single base substitution C T upstream_gene_variant PAEN-AU X 19687964 19687964 single base substitution T A intron_variant PAEN-AU X 19726192 19726192 single base substitution T C intron_variant PAEN-AU X 19773804 19773804 single base substitution A G intron_variant PAEN-AU X 19778504 19778504 single base substitution C A intron_variant PAEN-AU X 19874085 19874085 single base substitution A G intron_variant PAEN-AU X 19874602 19874602 single base substitution G C intron_variant PAEN-AU X 19906355 19906355 single base substitution G A upstream_gene_variant PAEN-AU X 19908744 19908744 single base substitution C A upstream_gene_variant PAEN-IT X 19632135 19632135 single base substitution T G intron_variant PAEN-IT X 19664231 19664231 single base substitution C A intron_variant PAEN-IT X 19688738 19688738 single base substitution T A intron_variant PAEN-IT X 19688738 19688738 single base substitution T A upstream_gene_variant PAEN-IT X 19755905 19755905 single base substitution T A intron_variant PAEN-IT X 19761077 19761077 single base substitution C A intron_variant PAEN-IT X 19761077 19761077 single base substitution C A upstream_gene_variant PAEN-IT X 19780512 19780512 single base substitution C T intron_variant PAEN-IT X 19812238 19812238 single base substitution C A intron_variant PAEN-IT X 19827473 19827473 single base substitution C A intron_variant PBCA-DE X 19547134 19547134 single base substitution C T downstream_gene_variant PBCA-DE X 19552378 19552378 single base substitution C T 3_prime_UTR_variant PBCA-DE X 19552378 19552378 single base substitution C T downstream_gene_variant PBCA-DE X 19562069 19562069 single base substitution A T intron_variant PBCA-DE X 19563644 19563644 single base substitution C A intron_variant PBCA-DE X 19566416 19566416 single base substitution T A intron_variant PBCA-DE X 19578338 19578338 insertion of <=200bp - A intron_variant PBCA-DE X 19578348 19578348 deletion of <=200bp C - intron_variant PBCA-DE X 19578348 19578348 single base substitution C A intron_variant PBCA-DE X 19589833 19589833 single base substitution A C intron_variant PBCA-DE X 19590511 19590512 deletion of <=200bp AT - intron_variant PBCA-DE X 19590515 19590518 deletion of <=200bp GTTA - intron_variant PBCA-DE X 19590517 19590518 deletion of <=200bp TA - intron_variant PBCA-DE X 19591013 19591013 single base substitution C A intron_variant PBCA-DE X 19601994 19601994 single base substitution T C downstream_gene_variant PBCA-DE X 19601994 19601994 single base substitution T C intron_variant PBCA-DE X 19614497 19614497 insertion of <=200bp - A intron_variant PBCA-DE X 19627725 19627725 single base substitution C T intron_variant PBCA-DE X 19648630 19648630 single base substitution C T intron_variant PBCA-DE X 19654276 19654276 single base substitution G A intron_variant PBCA-DE X 19663592 19663592 single base substitution G A intron_variant PBCA-DE X 19663592 19663592 single base substitution G A missense_variant T190I 569C>T PBCA-DE X 19663592 19663592 single base substitution G A missense_variant T206I 617C>T PBCA-DE X 19663592 19663592 single base substitution G A missense_variant T223I 668C>T PBCA-DE X 19663592 19663592 single base substitution G A missense_variant T243I 728C>T PBCA-DE X 19663592 19663592 single base substitution G A missense_variant T287I 860C>T PBCA-DE X 19663592 19663592 single base substitution G A missense_variant T5I 14C>T PBCA-DE X 19663592 19663592 single base substitution G A splice_region_variant PBCA-DE X 19677079 19677079 deletion of <=200bp T - intron_variant PBCA-DE X 19682402 19682402 single base substitution C T intron_variant PBCA-DE X 19684855 19684870 deletion of <=200bp CTGAGACTTCCACCGA - intron_variant PBCA-DE X 19684855 19684870 deletion of <=200bp CTGAGACTTCCACCGA - upstream_gene_variant PBCA-DE X 19688518 19688518 single base substitution C G intron_variant PBCA-DE X 19688518 19688518 single base substitution C G upstream_gene_variant PBCA-DE X 19689490 19689491 deletion of <=200bp AC - intron_variant PBCA-DE X 19689490 19689491 deletion of <=200bp AC - upstream_gene_variant PBCA-DE X 19697866 19697866 single base substitution C T downstream_gene_variant PBCA-DE X 19697866 19697866 single base substitution C T intron_variant PBCA-DE X 19712206 19712206 single base substitution G T intron_variant PBCA-DE X 19713436 19713436 insertion of <=200bp - AACA intron_variant PBCA-DE X 19720775 19720775 insertion of <=200bp - A intron_variant PBCA-DE X 19725735 19725735 single base substitution C G intron_variant PBCA-DE X 19725949 19725952 deletion of <=200bp AGAC - intron_variant PBCA-DE X 19726106 19726106 single base substitution G A intron_variant PBCA-DE X 19726691 19726691 single base substitution C T intron_variant PBCA-DE X 19736858 19736858 single base substitution A G intron_variant PBCA-DE X 19738024 19738024 single base substitution C A intron_variant PBCA-DE X 19740650 19740651 deletion of <=200bp GT - intron_variant PBCA-DE X 19742865 19742865 single base substitution T A intron_variant PBCA-DE X 19748306 19748306 single base substitution T G intron_variant PBCA-DE X 19749711 19749711 single base substitution C T intron_variant PBCA-DE X 19750407 19750407 single base substitution A G intron_variant PBCA-DE X 19750715 19750716 deletion of <=200bp AC - intron_variant PBCA-DE X 19754244 19754244 single base substitution A C intron_variant PBCA-DE X 19766778 19766778 insertion of <=200bp - T intron_variant PBCA-DE X 19766778 19766778 insertion of <=200bp - T upstream_gene_variant PBCA-DE X 19778515 19778515 single base substitution A C intron_variant PBCA-DE X 19792773 19792773 insertion of <=200bp - AAAG intron_variant PBCA-DE X 19811251 19811251 deletion of <=200bp A - intron_variant PBCA-DE X 19816009 19816009 insertion of <=200bp - AC intron_variant PBCA-DE X 19816009 19816010 deletion of <=200bp AC - intron_variant PBCA-DE X 19822306 19822306 single base substitution G T intron_variant PBCA-DE X 19822306 19822306 single base substitution G T upstream_gene_variant PBCA-DE X 19824191 19824191 single base substitution C G intron_variant PBCA-DE X 19826454 19826454 insertion of <=200bp - T intron_variant PBCA-DE X 19828889 19828889 single base substitution T A intron_variant PBCA-DE X 19844243 19844243 single base substitution C G intron_variant PBCA-DE X 19845932 19845932 single base substitution A G intron_variant PBCA-DE X 19848796 19848796 single base substitution C A intron_variant PBCA-DE X 19855321 19855321 single base substitution T G intron_variant PBCA-DE X 19859732 19859732 single base substitution T A intron_variant PBCA-DE X 19867056 19867056 deletion of <=200bp T - intron_variant PBCA-DE X 19877417 19877417 single base substitution C A intron_variant PBCA-DE X 19881321 19881321 insertion of <=200bp - T intron_variant PBCA-DE X 19882265 19882265 deletion of <=200bp C - intron_variant PBCA-DE X 19882706 19882706 single base substitution G T intron_variant PBCA-DE X 19882887 19882887 single base substitution G T intron_variant PBCA-DE X 19890892 19890892 insertion of <=200bp - A intron_variant PBCA-DE X 19900915 19900915 single base substitution C T intron_variant PBCA-DE X 19902148 19902148 single base substitution G A intron_variant PBCA-DE X 19902881 19902881 single base substitution C A intron_variant PBCA-DE X 19907711 19907711 insertion of <=200bp - C upstream_gene_variant PBCA-DE X 19909863 19909863 single base substitution A G upstream_gene_variant PRAD-CA X 19554044 19554044 single base substitution G T 3_prime_UTR_variant PRAD-CA X 19554044 19554044 single base substitution G T downstream_gene_variant PRAD-CA X 19709470 19709470 single base substitution C A intron_variant PRAD-CA X 19748377 19748377 single base substitution A G intron_variant PRAD-CA X 19773736 19773736 single base substitution C T intron_variant PRAD-CA X 19777211 19777211 single base substitution C A intron_variant PRAD-CA X 19778159 19778159 single base substitution C T intron_variant PRAD-CA X 19856213 19856213 single base substitution C A intron_variant PRAD-CA X 19862493 19862493 single base substitution C A intron_variant PRAD-CA X 19863468 19863468 single base substitution C T intron_variant PRAD-CA X 19890951 19890951 single base substitution T A intron_variant PRAD-CA X 19890953 19890953 single base substitution A T intron_variant PRAD-CA X 19891408 19891408 single base substitution G A intron_variant PRAD-UK X 19563324 19563324 single base substitution T C intron_variant PRAD-UK X 19569854 19569857 deletion of <=200bp TGGA - intron_variant PRAD-UK X 19580697 19580697 single base substitution G A intron_variant PRAD-UK X 19586778 19586778 single base substitution T G intron_variant PRAD-UK X 19604457 19604457 single base substitution T G downstream_gene_variant PRAD-UK X 19604457 19604457 single base substitution T G intron_variant PRAD-UK X 19607539 19607539 single base substitution A G downstream_gene_variant PRAD-UK X 19607539 19607539 single base substitution A G intron_variant PRAD-UK X 19637370 19637370 single base substitution G A intron_variant PRAD-UK X 19673241 19673241 insertion of <=200bp - T intron_variant PRAD-UK X 19685343 19685343 single base substitution T C intron_variant PRAD-UK X 19685343 19685343 single base substitution T C upstream_gene_variant PRAD-UK X 19693681 19693681 single base substitution C T intron_variant PRAD-UK X 19693681 19693681 single base substitution C T upstream_gene_variant PRAD-UK X 19701862 19701862 single base substitution G C downstream_gene_variant PRAD-UK X 19701862 19701862 single base substitution G C intron_variant PRAD-UK X 19706002 19706002 single base substitution C G intron_variant PRAD-UK X 19712017 19712017 single base substitution G C intron_variant PRAD-UK X 19835783 19835783 single base substitution T A intron_variant PRAD-UK X 19858022 19858022 insertion of <=200bp - T intron_variant PRAD-UK X 19860367 19860367 single base substitution C T intron_variant PRAD-UK X 19881802 19881802 single base substitution G A intron_variant PRAD-UK X 19889029 19889029 single base substitution T C intron_variant READ-US X 19587291 19587291 single base substitution C A missense_variant K177N 531G>T READ-US X 19587291 19587291 single base substitution C A missense_variant K200N 600G>T READ-US X 19587291 19587291 single base substitution C A missense_variant K401N 1203G>T READ-US X 19587291 19587291 single base substitution C A missense_variant K418N 1254G>T READ-US X 19587291 19587291 single base substitution C A missense_variant K438N 1314G>T READ-US X 19606793 19606793 single base substitution C T downstream_gene_variant READ-US X 19606793 19606793 single base substitution C T synonymous_variant P161P 483G>A READ-US X 19606793 19606793 single base substitution C T synonymous_variant P184P 552G>A READ-US X 19606793 19606793 single base substitution C T synonymous_variant P385P 1155G>A READ-US X 19606793 19606793 single base substitution C T synonymous_variant P402P 1206G>A READ-US X 19606793 19606793 single base substitution C T synonymous_variant P422P 1266G>A READ-US X 19606793 19606793 single base substitution C T synonymous_variant P466P 1398G>A RECA-EU X 19550982 19550982 single base substitution G A downstream_gene_variant RECA-EU X 19559407 19559407 single base substitution T A intron_variant RECA-EU X 19586917 19586917 single base substitution G T intron_variant RECA-EU X 19598221 19598221 single base substitution T C intron_variant RECA-EU X 19611896 19611896 single base substitution G A intron_variant RECA-EU X 19614304 19614304 single base substitution G A intron_variant RECA-EU X 19625905 19625905 single base substitution G A intron_variant RECA-EU X 19626400 19626400 single base substitution G T intron_variant RECA-EU X 19629783 19629783 single base substitution T A intron_variant RECA-EU X 19667401 19667401 single base substitution G C intron_variant RECA-EU X 19688314 19688314 single base substitution A T intron_variant RECA-EU X 19688668 19688668 single base substitution A T intron_variant RECA-EU X 19688668 19688668 single base substitution A T upstream_gene_variant RECA-EU X 19690160 19690160 single base substitution G T intron_variant RECA-EU X 19690160 19690160 single base substitution G T upstream_gene_variant RECA-EU X 19690781 19690781 single base substitution G A intron_variant RECA-EU X 19690781 19690781 single base substitution G A upstream_gene_variant RECA-EU X 19695403 19695403 single base substitution G T intron_variant RECA-EU X 19697732 19697732 single base substitution C G downstream_gene_variant RECA-EU X 19697732 19697732 single base substitution C G intron_variant RECA-EU X 19704913 19704913 single base substitution A C intron_variant RECA-EU X 19709873 19709873 single base substitution C A intron_variant RECA-EU X 19719635 19719635 single base substitution A C intron_variant RECA-EU X 19725045 19725045 single base substitution T A missense_variant D115V 344A>T RECA-EU X 19725045 19725045 single base substitution T A missense_variant D23V 68A>T RECA-EU X 19725045 19725045 single base substitution T A missense_variant D51V 152A>T RECA-EU X 19725045 19725045 single base substitution T A missense_variant D62V 185A>T RECA-EU X 19725045 19725045 single base substitution T A missense_variant D78V 233A>T RECA-EU X 19754896 19754896 single base substitution G A intron_variant RECA-EU X 19770344 19770344 single base substitution G A intron_variant RECA-EU X 19770344 19770344 single base substitution G A upstream_gene_variant RECA-EU X 19787479 19787479 single base substitution C T intron_variant RECA-EU X 19791799 19791799 single base substitution C A intron_variant RECA-EU X 19794360 19794360 single base substitution A T intron_variant RECA-EU X 19794365 19794365 single base substitution T C intron_variant RECA-EU X 19821037 19821037 single base substitution C T intron_variant RECA-EU X 19821037 19821037 single base substitution C T upstream_gene_variant RECA-EU X 19829795 19829795 single base substitution T A intron_variant RECA-EU X 19861035 19861035 single base substitution T A intron_variant RECA-EU X 19864007 19864007 single base substitution G T intron_variant SKCA-BR X 19548887 19548887 single base substitution G T downstream_gene_variant SKCA-BR X 19551362 19551362 single base substitution A C downstream_gene_variant SKCA-BR X 19555014 19555014 single base substitution G A intron_variant SKCA-BR X 19558187 19558187 single base substitution A C intron_variant SKCA-BR X 19560439 19560439 single base substitution C T intron_variant SKCA-BR X 19564422 19564422 single base substitution C T intron_variant SKCA-BR X 19564717 19564717 single base substitution G A intron_variant SKCA-BR X 19566943 19566943 insertion of <=200bp - AAGAGAGAG intron_variant SKCA-BR X 19573180 19573180 single base substitution G T intron_variant SKCA-BR X 19585673 19585673 single base substitution A T intron_variant SKCA-BR X 19585675 19585675 single base substitution A T intron_variant SKCA-BR X 19585681 19585681 insertion of <=200bp - TATAT intron_variant SKCA-BR X 19586772 19586772 single base substitution G A intron_variant SKCA-BR X 19588083 19588083 single base substitution G A intron_variant SKCA-BR X 19596398 19596398 single base substitution C T intron_variant SKCA-BR X 19597315 19597315 single base substitution C T intron_variant SKCA-BR X 19598171 19598171 single base substitution G A intron_variant SKCA-BR X 19598172 19598172 single base substitution G A intron_variant SKCA-BR X 19601465 19601465 single base substitution G A downstream_gene_variant SKCA-BR X 19601465 19601465 single base substitution G A intron_variant SKCA-BR X 19602100 19602100 single base substitution C G downstream_gene_variant SKCA-BR X 19602100 19602100 single base substitution C G intron_variant SKCA-BR X 19602847 19602847 single base substitution C T downstream_gene_variant SKCA-BR X 19602847 19602847 single base substitution C T intron_variant SKCA-BR X 19605205 19605205 single base substitution T G downstream_gene_variant SKCA-BR X 19605205 19605205 single base substitution T G intron_variant SKCA-BR X 19606902 19606902 single base substitution G T downstream_gene_variant SKCA-BR X 19606902 19606902 single base substitution G T exon_variant SKCA-BR X 19606902 19606902 single base substitution G T missense_variant P125Q 374C>A SKCA-BR X 19606902 19606902 single base substitution G T missense_variant P148Q 443C>A SKCA-BR X 19606902 19606902 single base substitution G T missense_variant P349Q 1046C>A SKCA-BR X 19606902 19606902 single base substitution G T missense_variant P366Q 1097C>A SKCA-BR X 19606902 19606902 single base substitution G T missense_variant P386Q 1157C>A SKCA-BR X 19606902 19606902 single base substitution G T missense_variant P430Q 1289C>A SKCA-BR X 19616293 19616293 single base substitution T G intron_variant SKCA-BR X 19621669 19621669 single base substitution G A intron_variant SKCA-BR X 19623673 19623673 single base substitution G A intron_variant SKCA-BR X 19623753 19623753 single base substitution A G intron_variant SKCA-BR X 19626226 19626226 single base substitution C T intron_variant SKCA-BR X 19626227 19626227 single base substitution C T intron_variant SKCA-BR X 19643290 19643290 single base substitution G A intron_variant SKCA-BR X 19643431 19643431 single base substitution G A intron_variant SKCA-BR X 19643451 19643451 insertion of <=200bp - AT intron_variant SKCA-BR X 19647768 19647768 single base substitution T G intron_variant SKCA-BR X 19647779 19647779 single base substitution T G intron_variant SKCA-BR X 19649838 19649838 single base substitution C T intron_variant SKCA-BR X 19651202 19651202 single base substitution G A intron_variant SKCA-BR X 19652998 19652998 single base substitution A G intron_variant SKCA-BR X 19656696 19656696 single base substitution C T intron_variant SKCA-BR X 19657498 19657498 single base substitution C T intron_variant SKCA-BR X 19657779 19657779 single base substitution G A intron_variant SKCA-BR X 19664529 19664529 single base substitution C T intron_variant SKCA-BR X 19673836 19673836 single base substitution A C intron_variant SKCA-BR X 19675498 19675499 deletion of <=200bp GA - intron_variant SKCA-BR X 19677227 19677228 deletion of <=200bp AT - intron_variant SKCA-BR X 19678123 19678123 single base substitution C A intron_variant SKCA-BR X 19685974 19685974 single base substitution A T intron_variant SKCA-BR X 19685974 19685974 single base substitution A T upstream_gene_variant SKCA-BR X 19686053 19686053 single base substitution G A intron_variant SKCA-BR X 19686053 19686053 single base substitution G A upstream_gene_variant SKCA-BR X 19688432 19688432 single base substitution G A intron_variant SKCA-BR X 19688432 19688432 single base substitution G A splice_region_variant SKCA-BR X 19696406 19696406 single base substitution G A intron_variant SKCA-BR X 19698498 19698499 deletion of <=200bp CA - downstream_gene_variant SKCA-BR X 19698498 19698499 deletion of <=200bp CA - intron_variant SKCA-BR X 19700060 19700060 single base substitution G A downstream_gene_variant SKCA-BR X 19700060 19700060 single base substitution G A intron_variant SKCA-BR X 19706371 19706371 single base substitution G A intron_variant SKCA-BR X 19707384 19707384 single base substitution G A intron_variant SKCA-BR X 19709472 19709472 single base substitution C A intron_variant SKCA-BR X 19710809 19710809 single base substitution T A intron_variant SKCA-BR X 19716719 19716719 single base substitution G A intron_variant SKCA-BR X 19716719 19716719 single base substitution G A upstream_gene_variant SKCA-BR X 19717423 19717423 single base substitution A T intron_variant SKCA-BR X 19717423 19717423 single base substitution A T upstream_gene_variant SKCA-BR X 19719220 19719220 single base substitution G A intron_variant SKCA-BR X 19721149 19721149 single base substitution T G intron_variant SKCA-BR X 19724168 19724168 single base substitution A C intron_variant SKCA-BR X 19725930 19725930 single base substitution G A intron_variant SKCA-BR X 19726186 19726186 single base substitution G A intron_variant SKCA-BR X 19732693 19732693 single base substitution G A intron_variant SKCA-BR X 19740146 19740146 single base substitution C T intron_variant SKCA-BR X 19742373 19742373 single base substitution G A intron_variant SKCA-BR X 19754232 19754232 single base substitution T G intron_variant SKCA-BR X 19756129 19756129 single base substitution C T intron_variant SKCA-BR X 19757131 19757131 insertion of <=200bp - AG intron_variant SKCA-BR X 19759145 19759145 single base substitution G A intron_variant SKCA-BR X 19759145 19759145 single base substitution G A upstream_gene_variant SKCA-BR X 19759889 19759889 single base substitution T G intron_variant SKCA-BR X 19759889 19759889 single base substitution T G upstream_gene_variant SKCA-BR X 19760685 19760685 single base substitution G T intron_variant SKCA-BR X 19760685 19760685 single base substitution G T upstream_gene_variant SKCA-BR X 19762261 19762261 single base substitution G A intron_variant SKCA-BR X 19762261 19762261 single base substitution G A upstream_gene_variant SKCA-BR X 19763224 19763224 single base substitution G A intron_variant SKCA-BR X 19763224 19763224 single base substitution G A upstream_gene_variant SKCA-BR X 19768962 19768962 single base substitution G A intron_variant SKCA-BR X 19768962 19768962 single base substitution G A upstream_gene_variant SKCA-BR X 19770717 19770717 single base substitution C T intron_variant SKCA-BR X 19770717 19770717 single base substitution C T upstream_gene_variant SKCA-BR X 19770718 19770718 single base substitution T C intron_variant SKCA-BR X 19770718 19770718 single base substitution T C upstream_gene_variant SKCA-BR X 19774039 19774039 single base substitution G A intron_variant SKCA-BR X 19782132 19782133 deletion of <=200bp CA - intron_variant SKCA-BR X 19785799 19785799 single base substitution C T intron_variant SKCA-BR X 19786057 19786057 single base substitution G A intron_variant SKCA-BR X 19787688 19787688 single base substitution G A intron_variant SKCA-BR X 19790747 19790747 single base substitution G A intron_variant SKCA-BR X 19791612 19791616 deletion of <=200bp AACAC - intron_variant SKCA-BR X 19793887 19793887 single base substitution G A intron_variant SKCA-BR X 19796969 19796969 single base substitution A G intron_variant SKCA-BR X 19798102 19798102 single base substitution A G intron_variant SKCA-BR X 19798817 19798817 single base substitution G A intron_variant SKCA-BR X 19800257 19800257 single base substitution C T intron_variant SKCA-BR X 19806515 19806515 single base substitution G A intron_variant SKCA-BR X 19809849 19809849 single base substitution A G intron_variant SKCA-BR X 19821906 19821907 deletion of <=200bp CA - intron_variant SKCA-BR X 19821906 19821907 deletion of <=200bp CA - upstream_gene_variant SKCA-BR X 19825056 19825056 single base substitution G A intron_variant SKCA-BR X 19825407 19825407 single base substitution T C intron_variant SKCA-BR X 19835967 19835967 single base substitution G A intron_variant SKCA-BR X 19837693 19837693 single base substitution C T intron_variant SKCA-BR X 19837825 19837825 single base substitution C A intron_variant SKCA-BR X 19839404 19839404 single base substitution G A intron_variant SKCA-BR X 19841034 19841034 single base substitution C T intron_variant SKCA-BR X 19842252 19842252 single base substitution C T intron_variant SKCA-BR X 19844803 19844808 deletion of <=200bp AATAAC - intron_variant SKCA-BR X 19849548 19849548 single base substitution G A intron_variant SKCA-BR X 19852118 19852118 single base substitution G A intron_variant SKCA-BR X 19854415 19854415 single base substitution G A intron_variant SKCA-BR X 19856177 19856177 insertion of <=200bp - AAAC intron_variant SKCA-BR X 19858247 19858247 single base substitution C A intron_variant SKCA-BR X 19867060 19867060 single base substitution T G intron_variant SKCA-BR X 19867384 19867384 single base substitution C T intron_variant SKCA-BR X 19872786 19872786 single base substitution C T intron_variant SKCA-BR X 19873995 19873995 single base substitution A T intron_variant SKCA-BR X 19879344 19879344 single base substitution A T intron_variant SKCA-BR X 19879632 19879632 single base substitution T C intron_variant SKCA-BR X 19879904 19879904 single base substitution G A intron_variant SKCA-BR X 19884115 19884115 single base substitution G A intron_variant SKCA-BR X 19887387 19887387 single base substitution G A intron_variant SKCA-BR X 19887418 19887418 single base substitution C T intron_variant SKCA-BR X 19890464 19890464 single base substitution G A intron_variant SKCA-BR X 19890930 19890930 insertion of <=200bp - TTC intron_variant SKCA-BR X 19898211 19898211 single base substitution G A intron_variant SKCA-BR X 19904204 19904204 single base substitution G A intron_variant SKCA-BR X 19909748 19909748 single base substitution C T upstream_gene_variant SKCM-US X 19560173 19560173 single base substitution G A missense_variant P327S 979C>T SKCM-US X 19560173 19560173 single base substitution G A missense_variant P350S 1048C>T SKCM-US X 19560173 19560173 single base substitution G A missense_variant P551S 1651C>T SKCM-US X 19560173 19560173 single base substitution G A missense_variant P568S 1702C>T SKCM-US X 19560173 19560173 single base substitution G A missense_variant P588S 1762C>T SKCM-US X 19564139 19564139 single base substitution G A synonymous_variant D247D 741C>T SKCM-US X 19564139 19564139 single base substitution G A synonymous_variant D270D 810C>T SKCM-US X 19564139 19564139 single base substitution G A synonymous_variant D471D 1413C>T SKCM-US X 19564139 19564139 single base substitution G A synonymous_variant D488D 1464C>T SKCM-US X 19564139 19564139 single base substitution G A synonymous_variant D508D 1524C>T SKCM-US X 19564142 19564142 single base substitution G C missense_variant F246L 738C>G SKCM-US X 19564142 19564142 single base substitution G C missense_variant F269L 807C>G SKCM-US X 19564142 19564142 single base substitution G C missense_variant F470L 1410C>G SKCM-US X 19564142 19564142 single base substitution G C missense_variant F487L 1461C>G SKCM-US X 19564142 19564142 single base substitution G C missense_variant F507L 1521C>G SKCM-US X 19568112 19568112 single base substitution G A missense_variant P231S 691C>T SKCM-US X 19568112 19568112 single base substitution G A missense_variant P254S 760C>T SKCM-US X 19568112 19568112 single base substitution G A missense_variant P455S 1363C>T SKCM-US X 19568112 19568112 single base substitution G A missense_variant P472S 1414C>T SKCM-US X 19568112 19568112 single base substitution G A missense_variant P492S 1474C>T SKCM-US X 19610234 19610234 single base substitution C T exon_variant SKCM-US X 19610234 19610234 single base substitution C T synonymous_variant K102K 306G>A SKCM-US X 19610234 19610234 single base substitution C T synonymous_variant K125K 375G>A SKCM-US X 19610234 19610234 single base substitution C T synonymous_variant K326K 978G>A SKCM-US X 19610234 19610234 single base substitution C T synonymous_variant K343K 1029G>A SKCM-US X 19610234 19610234 single base substitution C T synonymous_variant K363K 1089G>A SKCM-US X 19610234 19610234 single base substitution C T synonymous_variant K407K 1221G>A SKCM-US X 19713797 19713797 single base substitution G A exon_variant SKCM-US X 19713797 19713797 single base substitution G A synonymous_variant F114F 342C>T SKCM-US X 19713797 19713797 single base substitution G A synonymous_variant F151F 453C>T SKCM-US X 19713797 19713797 single base substitution G A synonymous_variant F59F 177C>T SKCM-US X 19713797 19713797 single base substitution G A synonymous_variant F87F 261C>T SKCM-US X 19713797 19713797 single base substitution G A synonymous_variant F98F 294C>T SKCM-US X 19713826 19713826 single base substitution C T missense_variant G105R 313G>A SKCM-US X 19713826 19713826 single base substitution C T missense_variant G142R 424G>A SKCM-US X 19713826 19713826 single base substitution C T missense_variant G50R 148G>A SKCM-US X 19713826 19713826 single base substitution C T missense_variant G78R 232G>A SKCM-US X 19713826 19713826 single base substitution C T missense_variant G89R 265G>A SKCM-US X 19713826 19713826 single base substitution C T upstream_gene_variant SKCM-US X 19713846 19713846 single base substitution C T stop_gained W135* 404G>A SKCM-US X 19713846 19713846 single base substitution C T stop_gained W43* 128G>A SKCM-US X 19713846 19713846 single base substitution C T stop_gained W71* 212G>A SKCM-US X 19713846 19713846 single base substitution C T stop_gained W82* 245G>A SKCM-US X 19713846 19713846 single base substitution C T stop_gained W98* 293G>A SKCM-US X 19713846 19713846 single base substitution C T upstream_gene_variant SKCM-US X 19764458 19764458 single base substitution C T synonymous_variant T24T 72G>A SKCM-US X 19764458 19764458 single base substitution C T synonymous_variant T35T 105G>A SKCM-US X 19764458 19764458 single base substitution C T synonymous_variant T51T 153G>A SKCM-US X 19764458 19764458 single base substitution C T synonymous_variant T88T 264G>A SKCM-US X 19854289 19854289 single base substitution C T missense_variant G39E 116G>A STAD-US X 19560086 19560086 single base substitution G A missense_variant R356C 1066C>T STAD-US X 19560086 19560086 single base substitution G A missense_variant R379C 1135C>T STAD-US X 19560086 19560086 single base substitution G A missense_variant R580C 1738C>T STAD-US X 19560086 19560086 single base substitution G A missense_variant R597C 1789C>T STAD-US X 19560086 19560086 single base substitution G A missense_variant R617C 1849C>T STAD-US X 19560113 19560113 single base substitution C T missense_variant A347T 1039G>A STAD-US X 19560113 19560113 single base substitution C T missense_variant A370T 1108G>A STAD-US X 19560113 19560113 single base substitution C T missense_variant A571T 1711G>A STAD-US X 19560113 19560113 single base substitution C T missense_variant A588T 1762G>A STAD-US X 19560113 19560113 single base substitution C T missense_variant A608T 1822G>A STAD-US X 19560206 19560206 single base substitution A G missense_variant S316P 946T>C STAD-US X 19560206 19560206 single base substitution A G missense_variant S339P 1015T>C STAD-US X 19560206 19560206 single base substitution A G missense_variant S540P 1618T>C STAD-US X 19560206 19560206 single base substitution A G missense_variant S557P 1669T>C STAD-US X 19560206 19560206 single base substitution A G missense_variant S577P 1729T>C STAD-US X 19560215 19560215 deletion of <=200bp G - frameshift_variant L313 STAD-US X 19560215 19560215 deletion of <=200bp G - frameshift_variant L336 STAD-US X 19560215 19560215 deletion of <=200bp G - frameshift_variant L537 STAD-US X 19560215 19560215 deletion of <=200bp G - frameshift_variant L554 STAD-US X 19560215 19560215 deletion of <=200bp G - frameshift_variant L574 STAD-US X 19560254 19560254 single base substitution C T missense_variant G300S 898G>A STAD-US X 19560254 19560254 single base substitution C T missense_variant G323S 967G>A STAD-US X 19560254 19560254 single base substitution C T missense_variant G524S 1570G>A STAD-US X 19560254 19560254 single base substitution C T missense_variant G541S 1621G>A STAD-US X 19560254 19560254 single base substitution C T missense_variant G561S 1681G>A STAD-US X 19587236 19587236 single base substitution G A missense_variant R196C 586C>T STAD-US X 19587236 19587236 single base substitution G A missense_variant R219C 655C>T STAD-US X 19587236 19587236 single base substitution G A missense_variant R420C 1258C>T STAD-US X 19587236 19587236 single base substitution G A missense_variant R437C 1309C>T STAD-US X 19587236 19587236 single base substitution G A missense_variant R457C 1369C>T STAD-US X 19606847 19606847 single base substitution C T downstream_gene_variant STAD-US X 19606847 19606847 single base substitution C T exon_variant STAD-US X 19606847 19606847 single base substitution C T synonymous_variant R143R 429G>A STAD-US X 19606847 19606847 single base substitution C T synonymous_variant R166R 498G>A STAD-US X 19606847 19606847 single base substitution C T synonymous_variant R367R 1101G>A STAD-US X 19606847 19606847 single base substitution C T synonymous_variant R384R 1152G>A STAD-US X 19606847 19606847 single base substitution C T synonymous_variant R404R 1212G>A STAD-US X 19606847 19606847 single base substitution C T synonymous_variant R448R 1344G>A STAD-US X 19610206 19610206 single base substitution G A exon_variant STAD-US X 19610206 19610206 single base substitution G A missense_variant P112S 334C>T STAD-US X 19610206 19610206 single base substitution G A missense_variant P135S 403C>T STAD-US X 19610206 19610206 single base substitution G A missense_variant P336S 1006C>T STAD-US X 19610206 19610206 single base substitution G A missense_variant P353S 1057C>T STAD-US X 19610206 19610206 single base substitution G A missense_variant P373S 1117C>T STAD-US X 19610206 19610206 single base substitution G A missense_variant P417S 1249C>T STAD-US X 19626054 19626054 single base substitution A C splice_donor_variant STAD-US X 19626152 19626152 single base substitution G A exon_variant STAD-US X 19626152 19626152 single base substitution G A synonymous_variant D266D 798C>T STAD-US X 19626152 19626152 single base substitution G A synonymous_variant D283D 849C>T STAD-US X 19626152 19626152 single base substitution G A synonymous_variant D303D 909C>T STAD-US X 19626152 19626152 single base substitution G A synonymous_variant D347D 1041C>T STAD-US X 19626152 19626152 single base substitution G A synonymous_variant D42D 126C>T STAD-US X 19626152 19626152 single base substitution G A synonymous_variant D65D 195C>T STAD-US X 19649997 19649997 single base substitution G A exon_variant STAD-US X 19649997 19649997 single base substitution G A synonymous_variant V257V 771C>T STAD-US X 19649997 19649997 single base substitution G A synonymous_variant V274V 822C>T STAD-US X 19649997 19649997 single base substitution G A synonymous_variant V294V 882C>T STAD-US X 19649997 19649997 single base substitution G A synonymous_variant V338V 1014C>T STAD-US X 19649997 19649997 single base substitution G A synonymous_variant V33V 99C>T STAD-US X 19649997 19649997 single base substitution G A synonymous_variant V56V 168C>T STAD-US X 19725084 19725084 single base substitution C T missense_variant R102Q 305G>A STAD-US X 19725084 19725084 single base substitution C T missense_variant R10Q 29G>A STAD-US X 19725084 19725084 single base substitution C T missense_variant R38Q 113G>A STAD-US X 19725084 19725084 single base substitution C T missense_variant R49Q 146G>A STAD-US X 19725084 19725084 single base substitution C T missense_variant R65Q 194G>A STAD-US X 19725094 19725094 single base substitution G A missense_variant R35W 103C>T STAD-US X 19725094 19725094 single base substitution G A missense_variant R46W 136C>T STAD-US X 19725094 19725094 single base substitution G A missense_variant R62W 184C>T STAD-US X 19725094 19725094 single base substitution G A missense_variant R7W 19C>T STAD-US X 19725094 19725094 single base substitution G A missense_variant R99W 295C>T THCA-US X 19560130 19560130 single base substitution G A missense_variant A341V 1022C>T THCA-US X 19560130 19560130 single base substitution G A missense_variant A364V 1091C>T THCA-US X 19560130 19560130 single base substitution G A missense_variant A565V 1694C>T THCA-US X 19560130 19560130 single base substitution G A missense_variant A582V 1745C>T THCA-US X 19560130 19560130 single base substitution G A missense_variant A602V 1805C>T UCEC-US X 19554556 19554556 single base substitution C A missense_variant K398N 1194G>T UCEC-US X 19554556 19554556 single base substitution C A missense_variant K421N 1263G>T UCEC-US X 19554556 19554556 single base substitution C A missense_variant K622N 1866G>T UCEC-US X 19554556 19554556 single base substitution C A missense_variant K639N 1917G>T UCEC-US X 19554556 19554556 single base substitution C A missense_variant K659N 1977G>T UCEC-US X 19554565 19554565 single base substitution G A synonymous_variant N395N 1185C>T UCEC-US X 19554565 19554565 single base substitution G A synonymous_variant N418N 1254C>T UCEC-US X 19554565 19554565 single base substitution G A synonymous_variant N619N 1857C>T UCEC-US X 19554565 19554565 single base substitution G A synonymous_variant N636N 1908C>T UCEC-US X 19554565 19554565 single base substitution G A synonymous_variant N656N 1968C>T UCEC-US X 19560129 19560129 single base substitution C T synonymous_variant A341A 1023G>A UCEC-US X 19560129 19560129 single base substitution C T synonymous_variant A364A 1092G>A UCEC-US X 19560129 19560129 single base substitution C T synonymous_variant A565A 1695G>A UCEC-US X 19560129 19560129 single base substitution C T synonymous_variant A582A 1746G>A UCEC-US X 19560129 19560129 single base substitution C T synonymous_variant A602A 1806G>A UCEC-US X 19560229 19560229 single base substitution G A missense_variant A308V 923C>T UCEC-US X 19560229 19560229 single base substitution G A missense_variant A331V 992C>T UCEC-US X 19560229 19560229 single base substitution G A missense_variant A532V 1595C>T UCEC-US X 19560229 19560229 single base substitution G A missense_variant A549V 1646C>T UCEC-US X 19560229 19560229 single base substitution G A missense_variant A569V 1706C>T UCEC-US X 19560255 19560255 single base substitution G A synonymous_variant G299G 897C>T UCEC-US X 19560255 19560255 single base substitution G A synonymous_variant G322G 966C>T UCEC-US X 19560255 19560255 single base substitution G A synonymous_variant G523G 1569C>T UCEC-US X 19560255 19560255 single base substitution G A synonymous_variant G540G 1620C>T UCEC-US X 19560255 19560255 single base substitution G A synonymous_variant G560G 1680C>T UCEC-US X 19560285 19560285 single base substitution C T synonymous_variant P289P 867G>A UCEC-US X 19560285 19560285 single base substitution C T synonymous_variant P312P 936G>A UCEC-US X 19560285 19560285 single base substitution C T synonymous_variant P513P 1539G>A UCEC-US X 19560285 19560285 single base substitution C T synonymous_variant P530P 1590G>A UCEC-US X 19560285 19560285 single base substitution C T synonymous_variant P550P 1650G>A UCEC-US X 19564078 19564078 single base substitution C T missense_variant A268T 802G>A UCEC-US X 19564078 19564078 single base substitution C T missense_variant A291T 871G>A UCEC-US X 19564078 19564078 single base substitution C T missense_variant A492T 1474G>A UCEC-US X 19564078 19564078 single base substitution C T missense_variant A509T 1525G>A UCEC-US X 19564078 19564078 single base substitution C T missense_variant A529T 1585G>A UCEC-US X 19606544 19606544 single base substitution C A downstream_gene_variant UCEC-US X 19606544 19606544 single base substitution C A intron_variant UCEC-US X 19606544 19606544 single base substitution C A synonymous_variant A549A 1647G>T UCEC-US X 19606857 19606857 single base substitution T G downstream_gene_variant UCEC-US X 19606857 19606857 single base substitution T G exon_variant UCEC-US X 19606857 19606857 single base substitution T G missense_variant K140T 419A>C UCEC-US X 19606857 19606857 single base substitution T G missense_variant K163T 488A>C UCEC-US X 19606857 19606857 single base substitution T G missense_variant K364T 1091A>C UCEC-US X 19606857 19606857 single base substitution T G missense_variant K381T 1142A>C UCEC-US X 19606857 19606857 single base substitution T G missense_variant K401T 1202A>C UCEC-US X 19606857 19606857 single base substitution T G missense_variant K445T 1334A>C UCEC-US X 19610221 19610221 single base substitution T G exon_variant UCEC-US X 19610221 19610221 single base substitution T G synonymous_variant R107R 319A>C UCEC-US X 19610221 19610221 single base substitution T G synonymous_variant R130R 388A>C UCEC-US X 19610221 19610221 single base substitution T G synonymous_variant R331R 991A>C UCEC-US X 19610221 19610221 single base substitution T G synonymous_variant R348R 1042A>C UCEC-US X 19610221 19610221 single base substitution T G synonymous_variant R368R 1102A>C UCEC-US X 19610221 19610221 single base substitution T G synonymous_variant R412R 1234A>C UCEC-US X 19613101 19613101 single base substitution C T exon_variant UCEC-US X 19613101 19613101 single base substitution C T synonymous_variant P103P 309G>A UCEC-US X 19613101 19613101 single base substitution C T synonymous_variant P304P 912G>A UCEC-US X 19613101 19613101 single base substitution C T synonymous_variant P321P 963G>A UCEC-US X 19613101 19613101 single base substitution C T synonymous_variant P341P 1023G>A UCEC-US X 19613101 19613101 single base substitution C T synonymous_variant P385P 1155G>A UCEC-US X 19613101 19613101 single base substitution C T synonymous_variant P80P 240G>A UCEC-US X 19626155 19626155 single base substitution G A exon_variant UCEC-US X 19626155 19626155 single base substitution G A synonymous_variant I265I 795C>T UCEC-US X 19626155 19626155 single base substitution G A synonymous_variant I282I 846C>T UCEC-US X 19626155 19626155 single base substitution G A synonymous_variant I302I 906C>T UCEC-US X 19626155 19626155 single base substitution G A synonymous_variant I346I 1038C>T UCEC-US X 19626155 19626155 single base substitution G A synonymous_variant I41I 123C>T UCEC-US X 19626155 19626155 single base substitution G A synonymous_variant I64I 192C>T UCEC-US X 19702025 19702025 single base substitution G A intron_variant UCEC-US X 19702025 19702025 single base substitution G A synonymous_variant G122G 366C>T UCEC-US X 19702025 19702025 single base substitution G A synonymous_variant G161G 483C>T UCEC-US X 19702025 19702025 single base substitution G A synonymous_variant G177G 531C>T UCEC-US X 19702025 19702025 single base substitution G A synonymous_variant G194G 582C>T UCEC-US X 19702025 19702025 single base substitution G A synonymous_variant G214G 642C>T UCEC-US X 19702025 19702025 single base substitution G A synonymous_variant G258G 774C>T UCEC-US X 19713762 19713762 single base substitution C T exon_variant UCEC-US X 19713762 19713762 single base substitution C T missense_variant G110D 329G>A UCEC-US X 19713762 19713762 single base substitution C T missense_variant G126D 377G>A UCEC-US X 19713762 19713762 single base substitution C T missense_variant G163D 488G>A UCEC-US X 19713762 19713762 single base substitution C T missense_variant G71D 212G>A UCEC-US X 19713762 19713762 single base substitution C T missense_variant G99D 296G>A UCEC-US X 19725011 19725011 single base substitution C A missense_variant E126D 378G>T UCEC-US X 19725011 19725011 single base substitution C A missense_variant E34D 102G>T UCEC-US X 19725011 19725011 single base substitution C A missense_variant E62D 186G>T UCEC-US X 19725011 19725011 single base substitution C A missense_variant E73D 219G>T UCEC-US X 19725011 19725011 single base substitution C A missense_variant E89D 267G>T UCEC-US X 19764516 19764516 single base substitution G A missense_variant A16V 47C>T UCEC-US X 19764516 19764516 single base substitution G A missense_variant A32V 95C>T UCEC-US X 19764516 19764516 single base substitution G A missense_variant A5V 14C>T UCEC-US X 19764516 19764516 single base substitution G A missense_variant A69V 206C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-LIP77 COSM367913 c.1534C>A p.P512T Substitution - Missense 23:19546011-19546011 - PD22360a COSM5784247 c.225C>G p.H75Q Substitution - Missense 23:19746379-19746379 - TCGA-AP-A051-01 COSM1118987 c.206C>T p.A69V Substitution - Missense 23:19746398-19746398 - PD4001a COSM164311 c.538G>A p.G180S Substitution - Missense 23:19684011-19684011 - TCGA-AP-A0LM-01 COSM1118985 c.488G>A p.G163D Substitution - Missense 23:19695644-19695644 - YUZINO COSM1714721 c.1366G>A p.D456N Substitution - Missense 23:19569121-19569121 - TCGA-34-2600-01 COSM756580 c.394G>A p.E132K Substitution - Missense 23:19695738-19695738 - TCGA-AX-A0J1-01 COSM1118977 c.1650G>A p.P550P Substitution - coding silent 23:19542167-19542167 - TCGA-AX-A060-01 COSM1118973 c.1806G>A p.A602A Substitution - coding silent 23:19542011-19542011 - SC_9047 COSM5568389 c.1404C>T p.S468S Substitution - coding silent 23:19550064-19550064 - CSCC-11-T COSM4522478 c.1165G>A p.D389N Substitution - Missense 23:19588776-19588776 - TCGA-HU-A4GX-01 COSM1118975 c.1681G>A p.G561S Substitution - Missense 23:19542136-19542136 - B65 COSM1756495 c.1304A>G p.D435G Substitution - Missense 23:19569183-19569183 - HCC113 COSM1625768 c.1773C>T p.F591F Substitution - coding silent 23:19542044-19542044 - CHC1594T COSM4804984 c.554G>C p.G185A Substitution - Missense 23:19683995-19683995 - CN-AML-NR-01-Dx COSM5427620 c.63C>T p.S21S Substitution - coding silent 23:19836224-19836224 - TCGA-37-5819-01 COSM756582 c.1385-1G>A p.? Unknown 23:19550084-19550084 - TCGA-DK-A3WW-01 COSM3800534 c.429G>C p.K143N Substitution - Missense 23:19695703-19695703 - TCGA-BR-8368-01 COSM4108565 c.295C>T p.R99W Substitution - Missense 23:19706976-19706976 - PD18259a COSM5773917 c.476C>T p.S159L Substitution - Missense 23:19695656-19695656 - TCGA-AX-A0J1-01 COSM1118981 c.1023G>A p.P341P Substitution - coding silent 23:19594983-19594983 - CSCC-35-T COSM4540667 c.287G>A p.G96D Substitution - Missense 23:19706984-19706984 - T1154 COSM4725677 c.301C>T p.R101C Substitution - Missense 23:19706970-19706970 - TCGA-HU-A4GX-01 COSM4108540 c.1822G>A p.A608T Substitution - Missense 23:19541995-19541995 - LAU108 COSM234027 c.1058-5C>T p.? Unknown 23:19592152-19592152 - TCGA-AP-A056-01 COSM1118971 c.1977G>T p.K659N Substitution - Missense 23:19536438-19536438 - TCGA-A8-A07R-01 COSM3844279 c.1193T>C p.I398T Substitution - Missense 23:19588748-19588748 - 06-P2007 COSM4589364 c.714G>T p.L238L Substitution - coding silent 23:19683835-19683835 - PT50 COSM5937917 c.810T>G p.D270E Substitution - Missense 23:19631951-19631951 - TCGA-AP-A0LM-01 COSM1118980 c.1102A>C p.R368R Substitution - coding silent 23:19592103-19592103 - EGC3 COSM5064613 c.558T>C p.G186G Substitution - coding silent 23:19683991-19683991 - TCGA-JX-A3Q0-01 COSM3036248 c.966C>T p.F322F Substitution - coding silent 23:19607977-19607977 - HCC70T COSM1625770 c.1495-11_1495-6delGGCTTT p.? Unknown 23:19546056-19546061 - TCGA-EA-A3HQ-01 COSM4843121 c.1405G>A p.V469M Substitution - Missense 23:19550063-19550063 - ATL021 COSM5711572 c.730A>T p.I244F Substitution - Missense 23:19645472-19645472 - SA237 COSM212896 c.1593G>C p.K531N Substitution - Missense 23:19545952-19545952 - pfg143T COSM4750804 c.1892+2T>C p.? Unknown 23:19541923-19541923 - ME100L COSM231458 c.442C>T p.P148S Substitution - Missense 23:19695690-19695690 - CSCC-44-T COSM4447119 c.1006-3C>T p.? Unknown 23:19595003-19595003 - CH-60-T2 COSM5651324 c.365G>C p.G122A Substitution - Missense 23:19706906-19706906 - T3080 COSM1467162 c.1720delC p.L574fs*39 Deletion - Frameshift 23:19542097-19542097 - 587336 COSM1225579 c.1649C>T p.P550L Substitution - Missense 23:19542168-19542168 - TCGA-BR-8680-01 COSM4108551 c.1005+2T>G p.? Unknown 23:19607936-19607936 - S00934 COSM5662996 c.1644C>G p.S548S Substitution - coding silent 23:19542173-19542173 - T3024 COSM4725674 c.1068G>T p.E356D Substitution - Missense 23:19592137-19592137 - CHC1594T COSM4805051 c.555G>T p.G185G Substitution - coding silent 23:19683994-19683994 - P162 COSM1737809 c.820G>A p.V274I Substitution - Missense 23:19631941-19631941 - TCGA-BS-A0UV-01 COSM1118979 c.1202A>C p.K401T Substitution - Missense 23:19588739-19588739 - TCGA-C8-A12U-01 COSM457234 c.30C>T p.Y10Y Substitution - coding silent 23:19836257-19836257 - TCGA-BR-4184-01 COSM4108538 c.1849C>T p.R617C Substitution - Missense 23:19541968-19541968 - TCGA-BH-A1ES-06 COSM3844275 c.1890G>T p.Q630H Substitution - Missense 23:19541927-19541927 - TCGA-AP-A0LM-01 COSM1118978 c.1585G>A p.A529T Substitution - Missense 23:19545960-19545960 - pfg143T COSM3036223 c.1469G>A p.R490Q Substitution - Missense 23:19549999-19549999 - TCGA-BR-4183-01 COSM4108560 c.305G>A p.R102Q Substitution - Missense 23:19706966-19706966 - HCC144T COSM3708549 c.520+10T>G p.? Unknown 23:19695602-19695602 - TCGA-D1-A177-01 COSM1118975 c.1681G>A p.G561S Substitution - Missense 23:19542136-19542136 - TCGA-GD-A3OP-01 COSM1315414 c.201C>T p.N67N Substitution - coding silent 23:19746403-19746403 - TCGA-A5-A0GX-01 COSM1118984 c.607G>A p.A203T Substitution - Missense 23:19683942-19683942 - CN-AML-01-T COSM5427620 c.63C>T p.S21S Substitution - coding silent 23:19836224-19836224 - TCGA-A8-A0A6-01 COSM3844292 c.414T>G p.G138G Substitution - coding silent 23:19695718-19695718 - 2492726 COSM5725473 c.1484C>T p.S495F Substitution - Missense 23:19549984-19549984 - TCGA-D9-A6EC-06 COSM4401798 c.1089G>A p.K363K Substitution - coding silent 23:19592116-19592116 - I2L-P28-Tumor-Biopsy COSM5366748 c.173_176delAAGA p.K58fs*2 Deletion - Frameshift 23:19746428-19746431 - TCGA-CA-6718-01 COSM1467166 c.226G>A p.E76K Substitution - Missense 23:19746378-19746378 - TCGA-D8-A1JS-01 COSM1490776 c.200A>G p.N67S Substitution - Missense 23:19746404-19746404 - TCGA-C5-A1MK-01 COSM4826835 c.483G>A p.E161E Substitution - coding silent 23:19695649-19695649 - RMS1_ COSM4985620 c.1894C>T p.R632* Substitution - Nonsense 23:19537779-19537779 - PT36 COSM5916960 c.985G>A p.D329N Substitution - Missense 23:19607958-19607958 - TCGA-C8-A12Y-01 COSM457233 c.1468C>T p.R490W Substitution - Missense 23:19550000-19550000 - TCGA-AP-A051-01 COSM1118983 c.642C>T p.G214G Substitution - coding silent 23:19683907-19683907 - TCGA-14-3477 COSM2155683 c.621C>A p.P207P Substitution - coding silent 23:19683928-19683928 - TCGA-DW-7840-01 COSM3992434 c.915C>A p.G305G Substitution - coding silent 23:19608028-19608028 - ESCC_143 COSM5644507 c.1381A>G p.I461V Substitution - Missense 23:19569106-19569106 - CHC892T COSM4798490 c.991G>A p.E331K Substitution - Missense 23:19607952-19607952 - J57_T COSM3965032 c.647G>C p.G216A Substitution - Missense 23:19683902-19683902 - CHC1594T COSM4805051 c.555G>T p.G185G Substitution - coding silent 23:19683994-19683994 - TCGA-FR-A3R1-01 COSM3560316 c.264G>A p.T88T Substitution - coding silent 23:19746340-19746340 - TCGA-KR-A7K7-01 COSM4922826 c.1784G>A p.G595E Substitution - Missense 23:19542033-19542033 - TCGA-D1-A103-01 COSM1118976 c.1680C>T p.G560G Substitution - coding silent 23:19542137-19542137 - 8015299 COSM3780411 c.1537G>A p.E513K Substitution - Missense 23:19546008-19546008 - TCGA-DK-A3WW-01 COSM1225579 c.1649C>T p.P550L Substitution - Missense 23:19542168-19542168 - ME012T COSM224760 c.163G>A p.E55K Substitution - Missense 23:19746441-19746441 - SNU-C2B COSM3036200 c.1887G>A p.Q629Q Substitution - coding silent 23:19541930-19541930 - TCGA-AX-A05Z-01 COSM1118972 c.1968C>T p.N656N Substitution - coding silent 23:19536447-19536447 - TCGA-66-2783-01 COSM756583 c.1607C>G p.T536S Substitution - Missense 23:19545938-19545938 - PT32 COSM1467166 c.226G>A p.E76K Substitution - Missense 23:19746378-19746378 - TCGA-BR-4184-01 COSM4108557 c.882C>T p.V294V Substitution - coding silent 23:19631879-19631879 - TCGA-AA-3492-01 COSM1467164 c.1331G>T p.S444I Substitution - Missense 23:19569156-19569156 - TCGA-A8-A09Z-01 COSM3844277 c.1579G>A p.V527M Substitution - Missense 23:19545966-19545966 - PDA_012 COSM4998547 c.404G>T p.W135L Substitution - Missense 23:19695728-19695728 - TCGA-B5-A0K2-01 COSM1118986 c.378G>T p.E126D Substitution - Missense 23:19706893-19706893 - sysucc-1370T COSM5472858 c.1568C>T p.A523V Substitution - Missense 23:19545977-19545977 - RMS112_ COSM4987757 c.1796T>C p.M599T Substitution - Missense 23:19542021-19542021 - TCGA-AX-A1CP-01 COSM1118982 c.906C>T p.I302I Substitution - coding silent 23:19608037-19608037 - TCGA-AD-5900-01 COSM1467163 c.1476G>A p.P492P Substitution - coding silent 23:19549992-19549992 - TCGA-EE-A181-06 COSM3560301 c.1521C>G p.F507L Substitution - Missense 23:19546024-19546024 - P151 COSM4615833 c.1154_1155delAG p.E385fs*22 Deletion - Frameshift 23:19588786-19588787 - PT36 COSM4108548 c.1117C>T p.P373S Substitution - Missense 23:19592088-19592088 - 06-P036 COSM4589369 c.251T>C p.L84P Substitution - Missense 23:19746353-19746353 - TCGA-AA-3966-01 COSM273239 c.1569G>A p.A523A Substitution - coding silent 23:19545976-19545976 - 587376 COSM1225580 c.1996T>C p.*666R Nonstop extension 23:19536419-19536419 - SNU-C4 COSM4615833 c.1154_1155delAG p.E385fs*22 Deletion - Frameshift 23:19588786-19588787 - S02322 COSM5691652 c.354G>C p.E118D Substitution - Missense 23:19706917-19706917 - SJDOSTEOS013 COSM5760265 c.1236C>T p.S412S Substitution - coding silent 23:19588705-19588705 - TCGA-D8-A1XR-01 COSM1118974 c.1706C>T p.A569V Substitution - Missense 23:19542111-19542111 - TCGA-BR-8081-01 COSM4108548 c.1117C>T p.P373S Substitution - Missense 23:19592088-19592088 - LUAD-NYU1051S COSM369045 c.424G>A p.G142R Substitution - Missense 23:19695708-19695708 - TCGA-AG-3592-01 COSM3424676 c.1266G>A p.P422P Substitution - coding silent 23:19588675-19588675 - TCGA-A8-A0A6-01 COSM3844287 c.638T>G p.V213G Substitution - Missense 23:19683911-19683911 - TCGA-AD-6889-01 COSM1467162 c.1720delC p.L574fs*39 Deletion - Frameshift 23:19542097-19542097 - EGC15 COSM3036229 c.1370G>A p.R457H Substitution - Missense 23:19569117-19569117 - ACINAR29 COSM1733743 c.1435C>T p.P479S Substitution - Missense 23:19550033-19550033 - P134 COSM5010156 c.898-1G>A p.? Unknown 23:19608046-19608046 - TCGA-EE-A3AG-06 COSM3560312 c.404G>A p.W135* Substitution - Nonsense 23:19695728-19695728 - 219 COSM4425089 c.1653C>T p.P551P Substitution - coding silent 23:19542164-19542164 - TCGA-JW-A5VL-01 COSM4847541 c.254C>G p.S85C Substitution - Missense 23:19746350-19746350 - LUAD-5V8LT COSM403148 c.198C>A p.T66T Substitution - coding silent 23:19746406-19746406 - TCGA-D3-A2JC-06 COSM3560319 c.116G>A p.G39E Substitution - Missense 23:19836171-19836171 - C086 COSM5538875 c.1875C>T p.T625T Substitution - coding silent 23:19541942-19541942 - 1N61-VS-1T61 COSM4977809 c.1948C>T p.R650W Substitution - Missense 23:19537725-19537725 - TCGA-BP-4330-01 COSM3363944 c.1337T>A p.L446Q Substitution - Missense 23:19569150-19569150 - RK126_C01 COSM1636466 c.1199C>T p.P400L Substitution - Missense 23:19588742-19588742 - TCGA-D8-A1JA-01 COSM3844282 c.694G>A p.E232K Substitution - Missense 23:19683855-19683855 - HCC14 COSM1625766 c.1869C>A p.I623I Substitution - coding silent 23:19541948-19541948 - DLBCL-PatientC COSM221245 c.522T>G p.S174R Substitution - Missense 23:19684027-19684027 - TCGA-AO-A128-01 COSM3844297 c.262A>C p.T88P Substitution - Missense 23:19746342-19746342 - TCGA-FW-A3R5-06 COSM3913748 c.1524C>T p.D508D Substitution - coding silent 23:19546021-19546021 - PD4087a COSM164312 c.1403C>A p.S468Y Substitution - Missense 23:19550065-19550065 - HCC113T COSM1625768 c.1773C>T p.F591F Substitution - coding silent 23:19542044-19542044 - TCGA-BR-4280-01 COSM4108554 c.909C>T p.D303D Substitution - coding silent 23:19608034-19608034 - 2492724 COSM5725473 c.1484C>T p.S495F Substitution - Missense 23:19549984-19549984 - HRA19 COSM4638080 c.1466G>A p.R489K Substitution - Missense 23:19550002-19550002 - STC291 COSM5064608 c.573C>A p.T191T Substitution - coding silent 23:19683976-19683976 - UM-SCC-17B COSM4599109 c.143T>A p.F48Y Substitution - Missense 23:19836144-19836144 - TCGA-EE-A3AE-06 COSM3560299 c.1762C>T p.P588S Substitution - Missense 23:19542055-19542055 - TCGA-34-2600-01 COSM756579 c.236G>T p.S79I Substitution - Missense 23:19746368-19746368 - TCGA-ET-A3DS-01 COSM3036204 c.1805C>T p.A602V Substitution - Missense 23:19542012-19542012 - ML_10_T_01 COSM5034154 c.1157C>A p.P386Q Substitution - Missense 23:19588784-19588784 - T3498 COSM4725672 c.1536C>T p.P512P Substitution - coding silent 23:19546009-19546009 - HCC144 COSM3708549 c.520+10T>G p.? Unknown 23:19695602-19695602 - Pat_45_A COSM5877592 c.1399G>T p.D467Y Substitution - Missense 23:19550069-19550069 - B65-Tumor COSM1756495 c.1304A>G p.D435G Substitution - Missense 23:19569183-19569183 - TCGA-FR-A3YO-06 COSM369045 c.424G>A p.G142R Substitution - Missense 23:19695708-19695708 - TCGA-EE-A29V-06 COSM3560305 c.453C>T p.F151F Substitution - coding silent 23:19695679-19695679 - TCGA-BS-A0TA-01 COSM1118974 c.1706C>T p.A569V Substitution - Missense 23:19542111-19542111 - Pat_04_A COSM5877595 c.180G>A p.M60I Substitution - Missense 23:19746424-19746424 - TCGA-BR-4362-01 COSM3036231 c.1369C>T p.R457C Substitution - Missense 23:19569118-19569118 - 2492725 COSM5725473 c.1484C>T p.S495F Substitution - Missense 23:19549984-19549984 - STC232 COSM5064604 c.1821G>A p.A607A Substitution - coding silent 23:19541996-19541996 - SS6003306 COSM3414228 c.1850G>A p.R617H Substitution - Missense 23:19541967-19541967 - TCGA-AG-4021-01 COSM3424674 c.1314G>T p.K438N Substitution - Missense 23:19569173-19569173 - STC232 COSM5064601 c.1825G>A p.V609M Substitution - Missense 23:19541992-19541992 - CSCC-29-T COSM4521832 c.1132G>A p.E378K Substitution - Missense 23:19592073-19592073 - tumor_4163639 COSM1161817 c.1659G>A p.P553P Substitution - coding silent 23:19542158-19542158 - LUAD-5V8LT COSM403147 c.1948C>A p.R650R Substitution - coding silent 23:19537725-19537725 - 256528 COSM3725123 c.535A>G p.T179A Substitution - Missense 23:19684014-19684014 - CHC892T COSM4798490 c.991G>A p.E331K Substitution - Missense 23:19607952-19607952 - T3021 COSM1467162 c.1720delC p.L574fs*39 Deletion - Frameshift 23:19542097-19542097 - C0031T COSM4154918 c.344A>T p.D115V Substitution - Missense 23:19706927-19706927 - CHC1594T COSM4804984 c.554G>C p.G185A Substitution - Missense 23:19683995-19683995 - TCGA-BR-4362-01 COSM4108545 c.1212G>A p.R404R Substitution - coding silent 23:19588729-19588729 - TCGA-CG-4477-01 COSM4108542 c.1729T>C p.S577P Substitution - Missense 23:19542088-19542088 - GBM_IV-34 COSM4967162 c.1776C>T p.G592G Substitution - coding silent 23:19542041-19542041 - CHC623T COSM3668661 c.1439C>A p.T480N Substitution - Missense 23:19550029-19550029 - ME009T COSM224113 c.1511C>T p.P504L Substitution - Missense 23:19546034-19546034 - SNU-175 COSM3036279 c.288C>T p.G96G Substitution - coding silent 23:19706983-19706983 - I2L-P19Tb-Tumor-Biopsy COSM5367180 c.899A>G p.D300G Substitution - Missense 23:19608044-19608044 - TCGA-DA-A1I5-06 COSM3560303 c.1474C>T p.P492S Substitution - Missense 23:19549994-19549994 - TCGA-HW-7495-01 COSM3973534 c.278A>T p.N93I Substitution - Missense 23:19746326-19746326 - HCC14T COSM1625766 c.1869C>A p.I623I Substitution - coding silent 23:19541948-19541948 - CSCC-27-T COSM4467662 c.1500C>T p.S500S Substitution - coding silent 23:19546045-19546045 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.726365 Xp22.1-p21.3 300374

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.162+26584T>C X 19827659 CLL A G IntronicSNV . c.727-15796T>C X 19679389 PIA A G Missense p.S577P c.1729T>C X 19560206 STAD A G Synonymous p.L286L c.856T>C X 19650023 LUAD A T IntronicSNV . c.1385-3884T>A X 19572085 PIA A T Missense p.L446Q c.1337T>A X 19587268 RCCC C A IntronicSNV . c.1298+217G>T X 19606544 UCEC C A Missense p.E126D c.378G>T X 19725011 UCEC C A Missense p.G198W c.592G>T X 19702075 CM C A Missense p.G488W c.1462G>T X 19568124 LUAD C A Missense p.S79I c.236G>T X 19764486 LUSC C G Missense p.E130Q c.388G>C X 19725001 HNSC C G Missense p.G582A c.1745G>C X 19560190 LUAD C G Missense p.K531N c.1593G>C X 19564070 BRCA C T IntronicSNV . c.727-17707G>A X 19681300 PIA C T Missense p.D63N c.187G>A X 19764535 HNSC C T Missense p.E132K c.394G>A X 19713856 LUSC C T Missense p.E55K c.163G>A X 19764559 CM C T Missense p.G180S c.538G>A X 19702129 BRCA C T Missense p.G39E c.116G>A X 19854289 CM C T Missense p.G562E c.1685G>A X 19560250 CM C T Missense p.R102Q c.305G>A X 19725084 STAD C T Nonsense p.W135* c.404G>A X 19713846 CM C T SpliceAcceptorSNV . c.1385-1G>A X 19568202 LUSC C T SpliceDonorSNV . c.1494+1G>A X 19568091 HNSC G A Missense p.A569V c.1706C>T X 19560229 BRCA G A Missense p.A569V c.1706C>T X 19560229 UCEC G A Missense p.A602V c.1805C>T X 19560130 THCA G A Missense p.L501F c.1501C>T X 19564162 CM G A Missense p.P148S c.442C>T X 19713808 CM G A Missense p.P400L c.1199C>T X 19606860 HC G A Missense p.P492S c.1474C>T X 19568112 CM G A Missense p.P504L c.1511C>T X 19564152 CM G A Missense p.P512L c.1535C>T X 19564128 CM G A Missense p.P588S c.1762C>T X 19560173 CM G A Missense p.R490W c.1468C>T X 19568118 BRCA G A Synonymous p.D303D c.909C>T X 19626152 STAD G A Synonymous p.F151F c.453C>T X 19713797 CM G A Synonymous p.I302I c.906C>T X 19626155 UCEC G A Synonymous p.I647I c.1941C>T X 19555850 CM G A Synonymous p.N141N c.423C>T X 19713827 COREAD G A Synonymous p.N197N c.591C>T X 19702076 HNSC G A Synonymous p.N67N c.201C>T X 19764521 BLCA G A Synonymous p.P418P c.1254C>T X 19606805 CM G A Synonymous p.Y10Y c.30C>T X 19854375 BRCA G C Missense p.F507L c.1521C>G X 19564142 CM G C Missense p.T536S c.1607C>G X 19564056 LUSC G C Synonymous p.T27T c.81C>G X 19854324 BRCA - G Frameshift p.A564Sfs*72 c.1688dupC X 19560247 RCCC G T IntronicSNV . c.1298+138C>A X 19606623 CM G T IntronicSNV . c.520+595C>A X 19713135 CM G T Missense p.Q169K c.505C>A X 19713745 COREAD G T Missense p.S468Y c.1403C>A X 19568183 BRCA T A Missense p.E182V c.545A>T X 19702122 HNSC T A Missense p.N93I c.278A>T X 19764444 LGG T C Missense p.N67S c.200A>G X 19764522 BRCA TCTT - Frameshift p.K58Rfs*2 c.173_176delAAGA X 19764546 MM T G IntronicSNV . c.286+7101A>C X 19757335 CLL T G Missense p.K635Q c.1903A>C X 19555888 HNSC