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 4 10084680 10084680 + Frame_Shift_Del DEL C C - TCGA-OR-A5JI-01A-11D-A29I-10 TCGA-OR-A5JI-10A-01D-A29L-10 g.chr4:10084680delC c.1162delG c.(1162-1164)gtgfs p.V388fs ACC 4 10086077 10086077 + Silent SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr4:10086077G>A c.1029C>T c.(1027-1029)gaC>gaT p.D343D BLCA 4 10079467 10079467 + Silent SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 g.chr4:10079467G>A c.1479C>T c.(1477-1479)acC>acT p.T493T BLCA 4 10079487 10079487 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr4:10079487C>T c.1459G>A c.(1459-1461)Gag>Aag p.E487K BLCA 4 10083020 10083020 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 g.chr4:10083020G>A c.1245C>T c.(1243-1245)gtC>gtT p.V415V BLCA 4 10084738 10084738 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr4:10084738C>A c.1104G>T c.(1102-1104)gtG>gtT p.V368V BLCA 4 10084784 10084784 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr4:10084784G>A c.1058C>T c.(1057-1059)aCg>aTg p.T353M BLCA 4 10100674 10100674 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr4:10100674C>A c.319G>T c.(319-321)Gac>Tac p.D107Y BLCA 4 10100690 10100690 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr4:10100690G>A c.303C>T c.(301-303)ttC>ttT p.F101F BLCA 4 10100747 10100747 + Silent SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr4:10100747C>T c.246G>A c.(244-246)ctG>ctA p.L82L BRCA 4 10079036 10079036 + Missense_Mutation SNP C C G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 g.chr4:10079036C>G c.1606G>C c.(1606-1608)Gtc>Ctc p.V536L BRCA 4 10117755 10117755 + Silent SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 g.chr4:10117755G>T c.120C>A c.(118-120)gtC>gtA p.V40V CESC 4 10083053 10083053 + Silent SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr4:10083053C>A c.1212G>T c.(1210-1212)gtG>gtT p.V404V COAD 4 10079057 10079057 + Frame_Shift_Del DEL A A - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr4:10079057delA c.1585delT c.(1585-1587)tatfs p.Y529fs COAD 4 10079460 10079460 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr4:10079460C>T c.1486G>A c.(1486-1488)Gcc>Acc p.A496T COAD 4 10080591 10080591 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:10080591C>T c.1319G>A c.(1318-1320)aGc>aAc p.S440N COAD 4 10083043 10083043 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:10083043C>T c.1222G>A c.(1222-1224)Gtt>Att p.V408I COAD 4 10084670 10084670 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:10084670G>A c.1172C>T c.(1171-1173)aCc>aTc p.T391I COAD 4 10084747 10084747 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr4:10084747C>T c.1095G>A c.(1093-1095)acG>acA p.T365T COAD 4 10099422 10099422 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr4:10099422G>A c.471C>T c.(469-471)agC>agT p.S157S COAD 4 10105577 10105577 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr4:10105577C>T c.172G>A c.(172-174)Gcc>Acc p.A58T COADREAD 4 10079057 10079057 + Frame_Shift_Del DEL A A - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr4:10079057delA c.1585delT c.(1585-1587)tatfs p.Y529fs COADREAD 4 10079460 10079460 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr4:10079460C>T c.1486G>A c.(1486-1488)Gcc>Acc p.A496T COADREAD 4 10080591 10080591 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:10080591C>T c.1319G>A c.(1318-1320)aGc>aAc p.S440N COADREAD 4 10083043 10083043 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:10083043C>T c.1222G>A c.(1222-1224)Gtt>Att p.V408I COADREAD 4 10084670 10084670 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:10084670G>A c.1172C>T c.(1171-1173)aCc>aTc p.T391I COADREAD 4 10084747 10084747 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr4:10084747C>T c.1095G>A c.(1093-1095)acG>acA p.T365T COADREAD 4 10099422 10099422 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr4:10099422G>A c.471C>T c.(469-471)agC>agT p.S157S COADREAD 4 10105577 10105577 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr4:10105577C>T c.172G>A c.(172-174)Gcc>Acc p.A58T ESCA 4 10099383 10099383 + Nonsense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 g.chr4:10099383G>T c.510C>A c.(508-510)tgC>tgA p.C170* GBM 4 10080542 10080542 + Silent SNP G G A TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 g.chr4:10080542G>A c.1368C>T c.(1366-1368)ggC>ggT p.G456G GBM 4 10086069 10086070 + Frame_Shift_Ins INS - - T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr4:10086069_10086070insT c.1036_1037insA c.(1036-1038)attfs p.I346fs GBM 4 10099515 10099515 + Splice_Site SNP C C T TCGA-19-5954-01A-11D-1696-08 TCGA-19-5954-11A-01D-1696-08 g.chr4:10099515C>T c.378G>A c.(376-378)aaG>aaA p.K126K GBM 4 10100717 10100718 + In_Frame_Ins INS - - TGCTCC TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 g.chr4:10100717_10100718insTGCTCC c.275_276insGGAGCA c.(274-276)cac>caGGAGCAc p.91_92insQE GBMLGG 4 10077032 10077032 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr4:10077032G>A c.1791C>T c.(1789-1791)gcC>gcT p.A597A GBMLGG 4 10079512 10079512 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:10079512C>T c.1434G>A c.(1432-1434)acG>acA p.T478T GBMLGG 4 10080542 10080542 + Silent SNP G G A TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 g.chr4:10080542G>A c.1368C>T c.(1366-1368)ggC>ggT p.G456G GBMLGG 4 10086069 10086070 + Frame_Shift_Ins INS - - T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr4:10086069_10086070insT c.1036_1037insA c.(1036-1038)attfs p.I346fs GBMLGG 4 10099412 10099412 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:10099412G>A c.481C>T c.(481-483)Cgg>Tgg p.R161W GBMLGG 4 10099515 10099515 + Splice_Site SNP C C T TCGA-19-5954-01A-11D-1696-08 TCGA-19-5954-11A-01D-1696-08 g.chr4:10099515C>T c.378G>A c.(376-378)aaG>aaA p.K126K GBMLGG 4 10100717 10100718 + In_Frame_Ins INS - - TGCTCC TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 g.chr4:10100717_10100718insTGCTCC c.275_276insGGAGCA c.(274-276)cac>caGGAGCAc p.91_92insQE HNSC 4 10083023 10083023 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr4:10083023G>A c.1242C>T c.(1240-1242)gcC>gcT p.A414A HNSC 4 10083028 10083028 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 g.chr4:10083028C>T c.1237G>A c.(1237-1239)Gta>Ata p.V413I HNSC 4 10083067 10083067 + Splice_Site SNP C C T TCGA-MZ-A5BI-01A-31D-A34J-08 TCGA-MZ-A5BI-10C-01D-A34M-08 g.chr4:10083067C>T c.1198G>A c.(1198-1200)Gga>Aga p.G400R HNSC 4 10099491 10099491 + Missense_Mutation SNP A A C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 g.chr4:10099491A>C c.402T>G c.(400-402)gaT>gaG p.D134E KIPAN 4 10089380 10089380 + Frame_Shift_Del DEL A A - TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr4:10089380delA c.902delT c.(901-903)atcfs p.I301fs KIPAN 4 10099338 10099338 + Silent SNP A A G TCGA-A4-A4ZT-01A-11D-A26P-10 TCGA-A4-A4ZT-10A-01D-A26P-10 g.chr4:10099338A>G c.555T>C c.(553-555)atT>atC p.I185I KIRC 4 10089380 10089380 + Frame_Shift_Del DEL A A - TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr4:10089380delA c.902delT c.(901-903)atcfs p.I301fs KIRP 4 10099338 10099338 + Silent SNP A A G TCGA-A4-A4ZT-01A-11D-A26P-10 TCGA-A4-A4ZT-10A-01D-A26P-10 g.chr4:10099338A>G c.555T>C c.(553-555)atT>atC p.I185I LGG 4 10077032 10077032 + Silent SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr4:10077032G>A c.1791C>T c.(1789-1791)gcC>gcT p.A597A LGG 4 10079512 10079512 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:10079512C>T c.1434G>A c.(1432-1434)acG>acA p.T478T LGG 4 10099412 10099412 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:10099412G>A c.481C>T c.(481-483)Cgg>Tgg p.R161W LIHC 4 10077080 10077080 + Silent SNP G G A TCGA-BC-A5W4-01A-11D-A28X-10 TCGA-BC-A5W4-10A-01D-A28X-10 g.chr4:10077080G>A c.1743C>T c.(1741-1743)agC>agT p.S581S LIHC 4 10079384 10079384 + Missense_Mutation SNP C C A TCGA-DD-AAW2-01A-11D-A40P-10 TCGA-DD-AAW2-10A-01D-A40P-10 g.chr4:10079384C>A c.1562G>T c.(1561-1563)gGc>gTc p.G521V LIHC 4 10090367 10090367 + Splice_Site SNP T T C TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr4:10090367T>C c.e6-2 LIHC 4 10099482 10099482 + Silent SNP A A G TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr4:10099482A>G c.411T>C c.(409-411)tcT>tcC p.S137S LIHC 4 10100740 10100740 + Missense_Mutation SNP A A G TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr4:10100740A>G c.253T>C c.(253-255)Tgg>Cgg p.W85R LUAD 4 10078942 10078942 + Missense_Mutation SNP C C A TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr4:10078942C>A c.1700G>T c.(1699-1701)aGa>aTa p.R567I LUAD 4 10079394 10079394 + Missense_Mutation SNP C C T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr4:10079394C>T c.1552G>A c.(1552-1554)Gtt>Att p.V518I LUAD 4 10079447 10079447 + Missense_Mutation SNP T T A TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr4:10079447T>A c.1499A>T c.(1498-1500)gAc>gTc p.D500V LUAD 4 10079461 10079461 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 g.chr4:10079461C>A c.1485G>T c.(1483-1485)gtG>gtT p.V495V LUAD 4 10079485 10079485 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr4:10079485C>A c.1461G>T c.(1459-1461)gaG>gaT p.E487D LUAD 4 10083005 10083005 + Silent SNP G G A TCGA-78-7167-01A-11D-2063-08 TCGA-78-7167-11A-01D-2063-08 g.chr4:10083005G>A c.1260C>T c.(1258-1260)taC>taT p.Y420Y LUAD 4 10084647 10084647 + Splice_Site SNP T T A TCGA-78-7149-01A-11D-2036-08 TCGA-78-7149-10A-01D-2036-08 g.chr4:10084647T>A c.1195A>T c.(1195-1197)Agc>Tgc p.S399C LUAD 4 10084702 10084702 + Missense_Mutation SNP G G C TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr4:10084702G>C c.1140C>G c.(1138-1140)atC>atG p.I380M LUAD 4 10089384 10089384 + Missense_Mutation SNP A A C TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr4:10089384A>C c.898T>G c.(898-900)Tac>Gac p.Y300D LUAD 4 10090303 10090303 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr4:10090303G>A c.621C>T c.(619-621)gcC>gcT p.A207A LUAD 4 10099383 10099383 + Silent SNP G G A TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr4:10099383G>A c.510C>T c.(508-510)tgC>tgT p.C170C LUAD 4 10099480 10099480 + Missense_Mutation SNP G G A TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr4:10099480G>A c.413C>T c.(412-414)tCt>tTt p.S138F LUAD 4 10100690 10100690 + Silent SNP G G A TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr4:10100690G>A c.303C>T c.(301-303)ttC>ttT p.F101F LUAD 4 10117832 10117832 + Missense_Mutation SNP C C G TCGA-44-6778-01A-11D-1855-08 TCGA-44-6778-10A-01D-1855-08 g.chr4:10117832C>G c.43G>C c.(43-45)Gtg>Ctg p.V15L LUSC 4 10080565 10080565 + Nonsense_Mutation SNP C C A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 g.chr4:10080565C>A c.1345G>T c.(1345-1347)Gaa>Taa p.E449* LUSC 4 10089385 10089385 + Frame_Shift_Del DEL C C - TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 g.chr4:10089385delC c.897delG c.(895-897)gggfs p.G299fs OV 4 10079011 10079011 + Missense_Mutation SNP T T C TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 g.chr4:10079011T>C c.1631A>G c.(1630-1632)aAt>aGt p.N544S OV 4 10117739 10117739 + Missense_Mutation SNP C C T TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 g.chr4:10117739C>T c.136G>A c.(136-138)Gac>Aac p.D46N PAAD 4 10080531 10080531 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:10080531A>G c.1379T>C c.(1378-1380)gTg>gCg p.V460A PAAD 4 10080533 10080533 + Silent SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 g.chr4:10080533C>T c.1377G>A c.(1375-1377)acG>acA p.T459T PAAD 4 10099401 10099401 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:10099401C>T c.492G>A c.(490-492)acG>acA p.T164T PAAD 4 10100706 10100706 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:10100706T>C c.287A>G c.(286-288)tAt>tGt p.Y96C PRAD 4 10089926 10089927 + Frame_Shift_Del DEL CC CC - TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 g.chr4:10089926_10089927delCC c.707_708delGG c.(706-708)gggfs p.G236fs SKCM 4 10079017 10079017 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr4:10079017G>A c.1625C>T c.(1624-1626)cCa>cTa p.P542L SKCM 4 10079019 10079019 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:10079019G>A c.1623C>T c.(1621-1623)tcC>tcT p.S541S SKCM 4 10084736 10084736 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:10084736G>A c.1106C>T c.(1105-1107)tCc>tTc p.S369F SKCM 4 10086141 10086141 + Missense_Mutation SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr4:10086141G>A c.965C>T c.(964-966)tCg>tTg p.S322L SKCM 4 10100722 10100722 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 g.chr4:10100722C>T c.271G>A c.(271-273)Gag>Aag p.E91K SKCM 4 10105519 10105519 + Splice_Site SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr4:10105519C>T c.e3+1 SKCM 4 10117765 10117765 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr4:10117765C>T c.110G>A c.(109-111)gGa>gAa p.G37E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 4 10084687 10084687 single base substitution G A downstream_gene_variant AML-US 4 10084687 10084687 single base substitution G A exon_variant AML-US 4 10084687 10084687 single base substitution G A synonymous_variant D245D 735C>T AML-US 4 10084687 10084687 single base substitution G A synonymous_variant D385D 1155C>T BLCA-US 4 10079467 10079467 single base substitution G A exon_variant BLCA-US 4 10079467 10079467 single base substitution G A synonymous_variant T353T 1059C>T BLCA-US 4 10079467 10079467 single base substitution G A synonymous_variant T493T 1479C>T BLCA-US 4 10079487 10079487 single base substitution C T exon_variant BLCA-US 4 10079487 10079487 single base substitution C T missense_variant E347K 1039G>A BLCA-US 4 10079487 10079487 single base substitution C T missense_variant E487K 1459G>A BLCA-US 4 10083020 10083020 single base substitution G A downstream_gene_variant BLCA-US 4 10083020 10083020 single base substitution G A exon_variant BLCA-US 4 10083020 10083020 single base substitution G A synonymous_variant V275V 825C>T BLCA-US 4 10083020 10083020 single base substitution G A synonymous_variant V415V 1245C>T BLCA-US 4 10084738 10084738 single base substitution C A downstream_gene_variant BLCA-US 4 10084738 10084738 single base substitution C A exon_variant BLCA-US 4 10084738 10084738 single base substitution C A synonymous_variant V228V 684G>T BLCA-US 4 10084738 10084738 single base substitution C A synonymous_variant V368V 1104G>T BLCA-US 4 10100674 10100674 single base substitution C A exon_variant BLCA-US 4 10100674 10100674 single base substitution C A intron_variant BLCA-US 4 10100674 10100674 single base substitution C A missense_variant D107Y 319G>T BLCA-US 4 10100674 10100674 single base substitution C A missense_variant D111Y 331G>T BLCA-US 4 10100674 10100674 single base substitution C A upstream_gene_variant BLCA-US 4 10100690 10100690 single base substitution G A exon_variant BLCA-US 4 10100690 10100690 single base substitution G A intron_variant BLCA-US 4 10100690 10100690 single base substitution G A synonymous_variant F101F 303C>T BLCA-US 4 10100690 10100690 single base substitution G A synonymous_variant F105F 315C>T BLCA-US 4 10100690 10100690 single base substitution G A upstream_gene_variant BOCA-FR 4 10110989 10110989 single base substitution G C intron_variant BOCA-FR 4 10110989 10110989 single base substitution G C upstream_gene_variant BOCA-UK 4 10100641 10100641 single base substitution C G exon_variant BOCA-UK 4 10100641 10100641 single base substitution C G intron_variant BOCA-UK 4 10100641 10100641 single base substitution C G missense_variant A118P 352G>C BOCA-UK 4 10100641 10100641 single base substitution C G missense_variant A122P 364G>C BOCA-UK 4 10100641 10100641 single base substitution C G upstream_gene_variant BRCA-EU 4 10071119 10071119 single base substitution T G downstream_gene_variant BRCA-EU 4 10072131 10072131 single base substitution C A downstream_gene_variant BRCA-EU 4 10072373 10072373 single base substitution T G downstream_gene_variant BRCA-EU 4 10072767 10072767 single base substitution C G downstream_gene_variant BRCA-EU 4 10072942 10072942 single base substitution C G downstream_gene_variant BRCA-EU 4 10074584 10074584 single base substitution T G downstream_gene_variant BRCA-EU 4 10074848 10074848 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 10075575 10075575 single base substitution G A downstream_gene_variant BRCA-EU 4 10076512 10076512 single base substitution C G 3_prime_UTR_variant BRCA-EU 4 10076512 10076512 single base substitution C G downstream_gene_variant BRCA-EU 4 10078744 10078744 single base substitution T C exon_variant BRCA-EU 4 10078744 10078744 single base substitution T C intron_variant BRCA-EU 4 10079623 10079623 single base substitution G A intron_variant BRCA-EU 4 10081626 10081626 single base substitution C T downstream_gene_variant BRCA-EU 4 10081626 10081626 single base substitution C T intron_variant BRCA-EU 4 10081764 10081764 single base substitution C G downstream_gene_variant BRCA-EU 4 10081764 10081764 single base substitution C G intron_variant BRCA-EU 4 10082223 10082223 single base substitution G A downstream_gene_variant BRCA-EU 4 10082223 10082223 single base substitution G A intron_variant BRCA-EU 4 10085849 10085849 single base substitution C T downstream_gene_variant BRCA-EU 4 10085849 10085849 single base substitution C T intron_variant BRCA-EU 4 10085881 10085881 single base substitution C G downstream_gene_variant BRCA-EU 4 10085881 10085881 single base substitution C G intron_variant BRCA-EU 4 10086713 10086713 single base substitution G A downstream_gene_variant BRCA-EU 4 10086713 10086713 single base substitution G A intron_variant BRCA-EU 4 10087099 10087099 single base substitution C T downstream_gene_variant BRCA-EU 4 10087099 10087099 single base substitution C T intron_variant BRCA-EU 4 10089891 10089891 single base substitution A G downstream_gene_variant BRCA-EU 4 10089891 10089891 single base substitution A G intron_variant BRCA-EU 4 10092223 10092223 single base substitution A T intron_variant BRCA-EU 4 10095470 10095470 single base substitution A G downstream_gene_variant BRCA-EU 4 10095470 10095470 single base substitution A G intron_variant BRCA-EU 4 10095470 10095470 single base substitution A G upstream_gene_variant BRCA-EU 4 10095730 10095730 insertion of <=200bp - TGAA downstream_gene_variant BRCA-EU 4 10095730 10095730 insertion of <=200bp - TGAA intron_variant BRCA-EU 4 10095730 10095730 insertion of <=200bp - TGAA upstream_gene_variant BRCA-EU 4 10095847 10095847 single base substitution C G downstream_gene_variant BRCA-EU 4 10095847 10095847 single base substitution C G intron_variant BRCA-EU 4 10095847 10095847 single base substitution C G upstream_gene_variant BRCA-EU 4 10099028 10099028 single base substitution C T downstream_gene_variant BRCA-EU 4 10099028 10099028 single base substitution C T intron_variant BRCA-EU 4 10099028 10099028 single base substitution C T upstream_gene_variant BRCA-EU 4 10101518 10101518 single base substitution G A intron_variant BRCA-EU 4 10101518 10101518 single base substitution G A upstream_gene_variant BRCA-EU 4 10101634 10101634 single base substitution G A intron_variant BRCA-EU 4 10101634 10101634 single base substitution G A upstream_gene_variant BRCA-EU 4 10102664 10102664 single base substitution C A intron_variant BRCA-EU 4 10102664 10102664 single base substitution C A upstream_gene_variant BRCA-EU 4 10105498 10105498 single base substitution G C intron_variant BRCA-EU 4 10106675 10106675 single base substitution C T intron_variant BRCA-EU 4 10108889 10108889 single base substitution C A intron_variant BRCA-EU 4 10108889 10108889 single base substitution C A upstream_gene_variant BRCA-EU 4 10110435 10110435 single base substitution C G intron_variant BRCA-EU 4 10110435 10110435 single base substitution C G upstream_gene_variant BRCA-EU 4 10110855 10110855 single base substitution G C intron_variant BRCA-EU 4 10110855 10110855 single base substitution G C upstream_gene_variant BRCA-EU 4 10112377 10112377 single base substitution C T intron_variant BRCA-EU 4 10112377 10112377 single base substitution C T upstream_gene_variant BRCA-EU 4 10115024 10115034 deletion of <=200bp CTTGCAGCTAT - downstream_gene_variant BRCA-EU 4 10115024 10115034 deletion of <=200bp CTTGCAGCTAT - intron_variant BRCA-EU 4 10117023 10117023 single base substitution C T downstream_gene_variant BRCA-EU 4 10117023 10117023 single base substitution C T intron_variant BRCA-EU 4 10118660 10118660 single base substitution A G upstream_gene_variant BRCA-EU 4 10118710 10118710 single base substitution C T upstream_gene_variant BRCA-EU 4 10119697 10119697 single base substitution C A upstream_gene_variant BRCA-EU 4 10119698 10119698 single base substitution G A upstream_gene_variant BRCA-EU 4 10120153 10120153 single base substitution G A upstream_gene_variant BRCA-EU 4 10120898 10120898 single base substitution C G upstream_gene_variant BRCA-EU 4 10122922 10122922 single base substitution T C upstream_gene_variant BRCA-FR 4 10074584 10074584 single base substitution T G downstream_gene_variant BRCA-FR 4 10077833 10077833 single base substitution C T exon_variant BRCA-FR 4 10077833 10077833 single base substitution C T intron_variant BRCA-FR 4 10081364 10081364 single base substitution C G downstream_gene_variant BRCA-FR 4 10081364 10081364 single base substitution C G intron_variant BRCA-FR 4 10081764 10081764 single base substitution C G downstream_gene_variant BRCA-FR 4 10081764 10081764 single base substitution C G intron_variant BRCA-FR 4 10085201 10085201 single base substitution G A downstream_gene_variant BRCA-FR 4 10085201 10085201 single base substitution G A intron_variant BRCA-UK 4 10072131 10072131 single base substitution C A downstream_gene_variant BRCA-UK 4 10076885 10076885 single base substitution C G 3_prime_UTR_variant BRCA-UK 4 10076885 10076885 single base substitution C G downstream_gene_variant BRCA-UK 4 10076885 10076885 single base substitution C G exon_variant BRCA-US 4 10076860 10076860 single base substitution G A 3_prime_UTR_variant BRCA-US 4 10076860 10076860 single base substitution G A downstream_gene_variant BRCA-US 4 10076860 10076860 single base substitution G A exon_variant BRCA-US 4 10079036 10079036 single base substitution C G exon_variant BRCA-US 4 10079036 10079036 single base substitution C G missense_variant V396L 1186G>C BRCA-US 4 10079036 10079036 single base substitution C G missense_variant V536L 1606G>C BRCA-US 4 10117755 10117755 single base substitution G T exon_variant BRCA-US 4 10117755 10117755 single base substitution G T synonymous_variant V40V 120C>A BRCA-US 4 10117755 10117755 single base substitution G T synonymous_variant V44V 132C>A BTCA-JP 4 10085301 10085301 single base substitution C T downstream_gene_variant BTCA-JP 4 10085301 10085301 single base substitution C T intron_variant BTCA-JP 4 10086016 10086016 single base substitution T A downstream_gene_variant BTCA-JP 4 10086016 10086016 single base substitution T A intron_variant BTCA-JP 4 10090020 10090020 insertion of <=200bp - G intron_variant BTCA-JP 4 10094835 10094835 deletion of <=200bp C - downstream_gene_variant BTCA-JP 4 10094835 10094835 deletion of <=200bp C - intron_variant BTCA-JP 4 10094835 10094835 deletion of <=200bp C - upstream_gene_variant BTCA-JP 4 10117848 10117848 single base substitution G T exon_variant BTCA-JP 4 10117848 10117848 single base substitution G T missense_variant F13L 39C>A BTCA-JP 4 10117848 10117848 single base substitution G T missense_variant F9L 27C>A CESC-US 4 10083053 10083053 single base substitution C A downstream_gene_variant CESC-US 4 10083053 10083053 single base substitution C A exon_variant CESC-US 4 10083053 10083053 single base substitution C A synonymous_variant V264V 792G>T CESC-US 4 10083053 10083053 single base substitution C A synonymous_variant V404V 1212G>T CESC-US 4 10117966 10117966 single base substitution G A exon_variant CESC-US 4 10117966 10117966 single base substitution G A intron_variant CESC-US 4 10117966 10117966 single base substitution G A upstream_gene_variant CLLE-ES 4 10104172 10104172 single base substitution C T intron_variant COAD-US 4 10079377 10079377 single base substitution C T splice_region_variant COAD-US 4 10079460 10079460 single base substitution C T exon_variant COAD-US 4 10079460 10079460 single base substitution C T missense_variant A356T 1066G>A COAD-US 4 10079460 10079460 single base substitution C T missense_variant A496T 1486G>A COAD-US 4 10083043 10083043 single base substitution C T downstream_gene_variant COAD-US 4 10083043 10083043 single base substitution C T exon_variant COAD-US 4 10083043 10083043 single base substitution C T missense_variant V268I 802G>A COAD-US 4 10083043 10083043 single base substitution C T missense_variant V408I 1222G>A COAD-US 4 10084747 10084747 single base substitution C T downstream_gene_variant COAD-US 4 10084747 10084747 single base substitution C T exon_variant COAD-US 4 10084747 10084747 single base substitution C T synonymous_variant T225T 675G>A COAD-US 4 10084747 10084747 single base substitution C T synonymous_variant T365T 1095G>A COAD-US 4 10099422 10099422 single base substitution G A downstream_gene_variant COAD-US 4 10099422 10099422 single base substitution G A exon_variant COAD-US 4 10099422 10099422 single base substitution G A intron_variant COAD-US 4 10099422 10099422 single base substitution G A synonymous_variant S157S 471C>T COAD-US 4 10099422 10099422 single base substitution G A synonymous_variant S161S 483C>T COAD-US 4 10099422 10099422 single base substitution G A upstream_gene_variant COAD-US 4 10105577 10105577 single base substitution C T exon_variant COAD-US 4 10105577 10105577 single base substitution C T intron_variant COAD-US 4 10105577 10105577 single base substitution C T missense_variant A58T 172G>A COAD-US 4 10105577 10105577 single base substitution C T missense_variant A62T 184G>A COCA-CN 4 10079050 10079050 single base substitution T C exon_variant COCA-CN 4 10079050 10079050 single base substitution T C missense_variant H391R 1172A>G COCA-CN 4 10079050 10079050 single base substitution T C missense_variant H531R 1592A>G COCA-CN 4 10079547 10079547 single base substitution C A exon_variant COCA-CN 4 10079547 10079547 single base substitution C A missense_variant G327C 979G>T COCA-CN 4 10079547 10079547 single base substitution C A missense_variant G467C 1399G>T COCA-CN 4 10079547 10079547 single base substitution C T exon_variant COCA-CN 4 10079547 10079547 single base substitution C T missense_variant G327S 979G>A COCA-CN 4 10079547 10079547 single base substitution C T missense_variant G467S 1399G>A COCA-CN 4 10090338 10090338 single base substitution G A exon_variant COCA-CN 4 10090338 10090338 single base substitution G A stop_gained R196* 586C>T COCA-CN 4 10090338 10090338 single base substitution G A stop_gained R200* 598C>T COCA-CN 4 10090338 10090338 single base substitution G A stop_gained R56* 166C>T COCA-CN 4 10094904 10094904 single base substitution T C downstream_gene_variant COCA-CN 4 10094904 10094904 single base substitution T C intron_variant COCA-CN 4 10094904 10094904 single base substitution T C upstream_gene_variant EOPC-DE 4 10088260 10088260 single base substitution A G downstream_gene_variant EOPC-DE 4 10088260 10088260 single base substitution A G intron_variant EOPC-DE 4 10092071 10092071 single base substitution C T intron_variant ESAD-UK 4 10071562 10071562 deletion of <=200bp G - downstream_gene_variant ESAD-UK 4 10072148 10072148 single base substitution G A downstream_gene_variant ESAD-UK 4 10073755 10073755 single base substitution G A downstream_gene_variant ESAD-UK 4 10073994 10073994 single base substitution C A downstream_gene_variant ESAD-UK 4 10073995 10073995 single base substitution T A downstream_gene_variant ESAD-UK 4 10075702 10075702 single base substitution T C downstream_gene_variant ESAD-UK 4 10075702 10075702 single base substitution T G downstream_gene_variant ESAD-UK 4 10077994 10077994 single base substitution C T exon_variant ESAD-UK 4 10077994 10077994 single base substitution C T intron_variant ESAD-UK 4 10078478 10078478 single base substitution C T exon_variant ESAD-UK 4 10078478 10078478 single base substitution C T intron_variant ESAD-UK 4 10079239 10079239 single base substitution G A intron_variant ESAD-UK 4 10079650 10079650 single base substitution C A intron_variant ESAD-UK 4 10079920 10079920 single base substitution G A intron_variant ESAD-UK 4 10081535 10081535 single base substitution C T downstream_gene_variant ESAD-UK 4 10081535 10081535 single base substitution C T intron_variant ESAD-UK 4 10085477 10085477 single base substitution G A downstream_gene_variant ESAD-UK 4 10085477 10085477 single base substitution G A intron_variant ESAD-UK 4 10086484 10086484 single base substitution G A downstream_gene_variant ESAD-UK 4 10086484 10086484 single base substitution G A intron_variant ESAD-UK 4 10087463 10087463 single base substitution A G downstream_gene_variant ESAD-UK 4 10087463 10087463 single base substitution A G intron_variant ESAD-UK 4 10088048 10088048 single base substitution A G downstream_gene_variant ESAD-UK 4 10088048 10088048 single base substitution A G intron_variant ESAD-UK 4 10090633 10090633 deletion of <=200bp C - intron_variant ESAD-UK 4 10090633 10090633 insertion of <=200bp - C intron_variant ESAD-UK 4 10090882 10090882 single base substitution G A intron_variant ESAD-UK 4 10094429 10094429 single base substitution A C downstream_gene_variant ESAD-UK 4 10094429 10094429 single base substitution A C exon_variant ESAD-UK 4 10094429 10094429 single base substitution A C intron_variant ESAD-UK 4 10095082 10095082 single base substitution C A downstream_gene_variant ESAD-UK 4 10095082 10095082 single base substitution C A intron_variant ESAD-UK 4 10095082 10095082 single base substitution C A upstream_gene_variant ESAD-UK 4 10096842 10096842 single base substitution G A downstream_gene_variant ESAD-UK 4 10096842 10096842 single base substitution G A intron_variant ESAD-UK 4 10096842 10096842 single base substitution G A upstream_gene_variant ESAD-UK 4 10097205 10097205 single base substitution A G downstream_gene_variant ESAD-UK 4 10097205 10097205 single base substitution A G intron_variant ESAD-UK 4 10097205 10097205 single base substitution A G upstream_gene_variant ESAD-UK 4 10098539 10098539 single base substitution G C downstream_gene_variant ESAD-UK 4 10098539 10098539 single base substitution G C intron_variant ESAD-UK 4 10098539 10098539 single base substitution G C upstream_gene_variant ESAD-UK 4 10099334 10099334 single base substitution C T downstream_gene_variant ESAD-UK 4 10099334 10099334 single base substitution C T exon_variant ESAD-UK 4 10099334 10099334 single base substitution C T intron_variant ESAD-UK 4 10099334 10099334 single base substitution C T splice_donor_variant ESAD-UK 4 10099334 10099334 single base substitution C T upstream_gene_variant ESAD-UK 4 10100868 10100868 single base substitution C T intron_variant ESAD-UK 4 10100868 10100868 single base substitution C T upstream_gene_variant ESAD-UK 4 10101943 10101943 single base substitution G T intron_variant ESAD-UK 4 10101943 10101943 single base substitution G T upstream_gene_variant ESAD-UK 4 10102108 10102108 single base substitution C T intron_variant ESAD-UK 4 10102108 10102108 single base substitution C T upstream_gene_variant ESAD-UK 4 10103042 10103042 single base substitution T A intron_variant ESAD-UK 4 10103042 10103042 single base substitution T A upstream_gene_variant ESAD-UK 4 10103516 10103516 single base substitution G A intron_variant ESAD-UK 4 10104601 10104617 deletion of <=200bp TCTAGAAGGGGTACCAC - intron_variant ESAD-UK 4 10104720 10104720 single base substitution C A intron_variant ESAD-UK 4 10108108 10108108 single base substitution C T exon_variant ESAD-UK 4 10108108 10108108 single base substitution C T intron_variant ESAD-UK 4 10116292 10116292 single base substitution T G downstream_gene_variant ESAD-UK 4 10116292 10116292 single base substitution T G intron_variant ESAD-UK 4 10118229 10118234 deletion of <=200bp GGGGCA - intron_variant ESAD-UK 4 10118229 10118234 deletion of <=200bp GGGGCA - upstream_gene_variant ESAD-UK 4 10118656 10118656 single base substitution A C upstream_gene_variant ESAD-UK 4 10118744 10118744 single base substitution T G upstream_gene_variant ESAD-UK 4 10120384 10120384 single base substitution C A upstream_gene_variant GBM-US 4 10080542 10080542 single base substitution G A exon_variant GBM-US 4 10080542 10080542 single base substitution G A synonymous_variant G316G 948C>T GBM-US 4 10080542 10080542 single base substitution G A synonymous_variant G456G 1368C>T GBM-US 4 10086069 10086069 insertion of <=200bp - T downstream_gene_variant GBM-US 4 10086069 10086069 insertion of <=200bp - T exon_variant GBM-US 4 10086069 10086069 insertion of <=200bp - T frameshift_variant I206I? GBM-US 4 10086069 10086069 insertion of <=200bp - T frameshift_variant I346I? GBM-US 4 10086069 10086069 insertion of <=200bp - T splice_region_variant GBM-US 4 10100717 10100717 insertion of <=200bp - TGCTCC exon_variant GBM-US 4 10100717 10100717 insertion of <=200bp - TGCTCC inframe_insertion H92HGA GBM-US 4 10100717 10100717 insertion of <=200bp - TGCTCC inframe_insertion H96HGA GBM-US 4 10100717 10100717 insertion of <=200bp - TGCTCC intron_variant GBM-US 4 10100717 10100717 insertion of <=200bp - TGCTCC upstream_gene_variant KIRC-US 4 10089380 10089380 deletion of <=200bp A - downstream_gene_variant KIRC-US 4 10089380 10089380 deletion of <=200bp A - exon_variant KIRC-US 4 10089380 10089380 deletion of <=200bp A - frameshift_variant I161 KIRC-US 4 10089380 10089380 deletion of <=200bp A - frameshift_variant I301 KIRP-US 4 10099338 10099338 single base substitution A G downstream_gene_variant KIRP-US 4 10099338 10099338 single base substitution A G exon_variant KIRP-US 4 10099338 10099338 single base substitution A G intron_variant KIRP-US 4 10099338 10099338 single base substitution A G synonymous_variant I185I 555T>C KIRP-US 4 10099338 10099338 single base substitution A G synonymous_variant I189I 567T>C KIRP-US 4 10099338 10099338 single base substitution A G upstream_gene_variant LAML-KR 4 10080462 10080462 single base substitution A C intron_variant LAML-KR 4 10085902 10085902 single base substitution C G downstream_gene_variant LAML-KR 4 10085902 10085902 single base substitution C G intron_variant LAML-KR 4 10086188 10086188 single base substitution T G downstream_gene_variant LAML-KR 4 10086188 10086188 single base substitution T G intron_variant LAML-KR 4 10089594 10089594 single base substitution C A downstream_gene_variant LAML-KR 4 10089594 10089594 single base substitution C A intron_variant LAML-KR 4 10119094 10119094 single base substitution G T upstream_gene_variant LGG-US 4 10077032 10077032 single base substitution G A exon_variant LGG-US 4 10077032 10077032 single base substitution G A synonymous_variant A457A 1371C>T LGG-US 4 10077032 10077032 single base substitution G A synonymous_variant A597A 1791C>T LICA-CN 4 10089469 10089469 single base substitution T A downstream_gene_variant LICA-CN 4 10089469 10089469 single base substitution T A exon_variant LICA-CN 4 10089469 10089469 single base substitution T A synonymous_variant T131T 393A>T LICA-CN 4 10089469 10089469 single base substitution T A synonymous_variant T271T 813A>T LICA-CN 4 10089478 10089478 single base substitution C A downstream_gene_variant LICA-CN 4 10089478 10089478 single base substitution C A exon_variant LICA-CN 4 10089478 10089478 single base substitution C A synonymous_variant V128V 384G>T LICA-CN 4 10089478 10089478 single base substitution C A synonymous_variant V268V 804G>T LICA-FR 4 10079547 10079547 single base substitution C T exon_variant LICA-FR 4 10079547 10079547 single base substitution C T missense_variant G327S 979G>A LICA-FR 4 10079547 10079547 single base substitution C T missense_variant G467S 1399G>A LICA-FR 4 10083820 10083820 single base substitution C G downstream_gene_variant LICA-FR 4 10083820 10083820 single base substitution C G intron_variant LICA-FR 4 10086022 10086022 single base substitution C A downstream_gene_variant LICA-FR 4 10086022 10086022 single base substitution C A intron_variant LICA-FR 4 10086104 10086104 single base substitution C T downstream_gene_variant LICA-FR 4 10086104 10086104 single base substitution C T exon_variant LICA-FR 4 10086104 10086104 single base substitution C T synonymous_variant K194K 582G>A LICA-FR 4 10086104 10086104 single base substitution C T synonymous_variant K334K 1002G>A LICA-FR 4 10089391 10089391 single base substitution C A downstream_gene_variant LICA-FR 4 10089391 10089391 single base substitution C A exon_variant LICA-FR 4 10089391 10089391 single base substitution C A synonymous_variant L157L 471G>T LICA-FR 4 10089391 10089391 single base substitution C A synonymous_variant L297L 891G>T LIHC-US 4 10077080 10077080 single base substitution G A exon_variant LIHC-US 4 10077080 10077080 single base substitution G A synonymous_variant S441S 1323C>T LIHC-US 4 10077080 10077080 single base substitution G A synonymous_variant S581S 1743C>T LIHC-US 4 10099482 10099482 single base substitution A G downstream_gene_variant LIHC-US 4 10099482 10099482 single base substitution A G exon_variant LIHC-US 4 10099482 10099482 single base substitution A G intron_variant LIHC-US 4 10099482 10099482 single base substitution A G synonymous_variant S137S 411T>C LIHC-US 4 10099482 10099482 single base substitution A G synonymous_variant S141S 423T>C LIHC-US 4 10099482 10099482 single base substitution A G upstream_gene_variant LINC-JP 4 10085444 10085444 single base substitution C A downstream_gene_variant LINC-JP 4 10085444 10085444 single base substitution C A intron_variant LINC-JP 4 10089113 10089113 single base substitution A T downstream_gene_variant LINC-JP 4 10089113 10089113 single base substitution A T intron_variant LINC-JP 4 10089581 10089581 single base substitution A G downstream_gene_variant LINC-JP 4 10089581 10089581 single base substitution A G intron_variant LINC-JP 4 10091032 10091032 single base substitution T C intron_variant LINC-JP 4 10095179 10095179 single base substitution G A downstream_gene_variant LINC-JP 4 10095179 10095179 single base substitution G A intron_variant LINC-JP 4 10095179 10095179 single base substitution G A upstream_gene_variant LINC-JP 4 10095206 10095206 single base substitution C T downstream_gene_variant LINC-JP 4 10095206 10095206 single base substitution C T intron_variant LINC-JP 4 10095206 10095206 single base substitution C T upstream_gene_variant LINC-JP 4 10099542 10099542 single base substitution C A downstream_gene_variant LINC-JP 4 10099542 10099542 single base substitution C A intron_variant LINC-JP 4 10099542 10099542 single base substitution C A upstream_gene_variant LINC-JP 4 10100812 10100812 single base substitution A G intron_variant LINC-JP 4 10100812 10100812 single base substitution A G upstream_gene_variant LINC-JP 4 10113684 10113684 deletion of <=200bp T - downstream_gene_variant LINC-JP 4 10113684 10113684 deletion of <=200bp T - intron_variant LINC-JP 4 10116764 10116764 single base substitution C A downstream_gene_variant LINC-JP 4 10116764 10116764 single base substitution C A intron_variant LIRI-JP 4 10071374 10071374 single base substitution C A downstream_gene_variant LIRI-JP 4 10074401 10074401 single base substitution C G downstream_gene_variant LIRI-JP 4 10075896 10075896 single base substitution C A downstream_gene_variant LIRI-JP 4 10077094 10077094 single base substitution G A exon_variant LIRI-JP 4 10077094 10077094 single base substitution G A missense_variant H437Y 1309C>T LIRI-JP 4 10077094 10077094 single base substitution G A missense_variant H577Y 1729C>T LIRI-JP 4 10077334 10077334 single base substitution G A exon_variant LIRI-JP 4 10077334 10077334 single base substitution G A intron_variant LIRI-JP 4 10078222 10078222 single base substitution C T exon_variant LIRI-JP 4 10078222 10078222 single base substitution C T intron_variant LIRI-JP 4 10079277 10079277 single base substitution T C intron_variant LIRI-JP 4 10079609 10079609 single base substitution T C intron_variant LIRI-JP 4 10081382 10081382 single base substitution G A downstream_gene_variant LIRI-JP 4 10081382 10081382 single base substitution G A intron_variant LIRI-JP 4 10082508 10082508 single base substitution A C downstream_gene_variant LIRI-JP 4 10082508 10082508 single base substitution A C intron_variant LIRI-JP 4 10083082 10083082 single base substitution A G downstream_gene_variant LIRI-JP 4 10083082 10083082 single base substitution A G intron_variant LIRI-JP 4 10083532 10083532 single base substitution A G downstream_gene_variant LIRI-JP 4 10083532 10083532 single base substitution A G intron_variant LIRI-JP 4 10083747 10083747 single base substitution T C downstream_gene_variant LIRI-JP 4 10083747 10083747 single base substitution T C intron_variant LIRI-JP 4 10086481 10086481 single base substitution C T downstream_gene_variant LIRI-JP 4 10086481 10086481 single base substitution C T intron_variant LIRI-JP 4 10088470 10088470 single base substitution G A downstream_gene_variant LIRI-JP 4 10088470 10088470 single base substitution G A intron_variant LIRI-JP 4 10089400 10089400 single base substitution A G downstream_gene_variant LIRI-JP 4 10089400 10089400 single base substitution A G exon_variant LIRI-JP 4 10089400 10089400 single base substitution A G synonymous_variant S154S 462T>C LIRI-JP 4 10089400 10089400 single base substitution A G synonymous_variant S294S 882T>C LIRI-JP 4 10089796 10089796 single base substitution C T downstream_gene_variant LIRI-JP 4 10089796 10089796 single base substitution C T intron_variant LIRI-JP 4 10091098 10091098 single base substitution A G intron_variant LIRI-JP 4 10095569 10095569 single base substitution G A downstream_gene_variant LIRI-JP 4 10095569 10095569 single base substitution G A intron_variant LIRI-JP 4 10095569 10095569 single base substitution G A upstream_gene_variant LIRI-JP 4 10096339 10096339 single base substitution C T downstream_gene_variant LIRI-JP 4 10096339 10096339 single base substitution C T exon_variant LIRI-JP 4 10096339 10096339 single base substitution C T intron_variant LIRI-JP 4 10096339 10096339 single base substitution C T upstream_gene_variant LIRI-JP 4 10097552 10097552 single base substitution C A downstream_gene_variant LIRI-JP 4 10097552 10097552 single base substitution C A intron_variant LIRI-JP 4 10097552 10097552 single base substitution C A upstream_gene_variant LIRI-JP 4 10098508 10098513 deletion of <=200bp TTGTTC - downstream_gene_variant LIRI-JP 4 10098508 10098513 deletion of <=200bp TTGTTC - intron_variant LIRI-JP 4 10098508 10098513 deletion of <=200bp TTGTTC - upstream_gene_variant LIRI-JP 4 10098652 10098652 single base substitution A C downstream_gene_variant LIRI-JP 4 10098652 10098652 single base substitution A C intron_variant LIRI-JP 4 10098652 10098652 single base substitution A C upstream_gene_variant LIRI-JP 4 10099099 10099099 single base substitution C A downstream_gene_variant LIRI-JP 4 10099099 10099099 single base substitution C A intron_variant LIRI-JP 4 10099099 10099099 single base substitution C A upstream_gene_variant LIRI-JP 4 10100858 10100858 single base substitution G C intron_variant LIRI-JP 4 10100858 10100858 single base substitution G C upstream_gene_variant LIRI-JP 4 10100965 10100965 single base substitution A T intron_variant LIRI-JP 4 10100965 10100965 single base substitution A T upstream_gene_variant LIRI-JP 4 10102216 10102216 single base substitution G A intron_variant LIRI-JP 4 10102216 10102216 single base substitution G A upstream_gene_variant LIRI-JP 4 10104000 10104000 single base substitution T A intron_variant LIRI-JP 4 10108996 10108996 single base substitution G A intron_variant LIRI-JP 4 10108996 10108996 single base substitution G A upstream_gene_variant LIRI-JP 4 10109081 10109081 single base substitution C A intron_variant LIRI-JP 4 10109081 10109081 single base substitution C A upstream_gene_variant LIRI-JP 4 10110901 10110901 single base substitution G A intron_variant LIRI-JP 4 10110901 10110901 single base substitution G A upstream_gene_variant LIRI-JP 4 10111837 10111837 single base substitution G A intron_variant LIRI-JP 4 10111837 10111837 single base substitution G A upstream_gene_variant LIRI-JP 4 10117243 10117243 single base substitution C A downstream_gene_variant LIRI-JP 4 10117243 10117243 single base substitution C A intron_variant LIRI-JP 4 10120931 10120931 single base substitution T C upstream_gene_variant LIRI-JP 4 10122268 10122268 single base substitution C T upstream_gene_variant LIRI-JP 4 10123390 10123390 single base substitution G A upstream_gene_variant LUSC-KR 4 10073016 10073016 single base substitution G A downstream_gene_variant LUSC-KR 4 10088256 10088256 single base substitution C A downstream_gene_variant LUSC-KR 4 10088256 10088256 single base substitution C A intron_variant LUSC-KR 4 10092986 10092986 single base substitution C A intron_variant LUSC-KR 4 10105413 10105413 single base substitution A C intron_variant LUSC-KR 4 10105739 10105739 single base substitution C T intron_variant LUSC-KR 4 10114289 10114289 single base substitution T C downstream_gene_variant LUSC-KR 4 10114289 10114289 single base substitution T C intron_variant LUSC-KR 4 10118789 10118789 single base substitution T G upstream_gene_variant LUSC-US 4 10080565 10080565 single base substitution C A exon_variant LUSC-US 4 10080565 10080565 single base substitution C A stop_gained E309* 925G>T LUSC-US 4 10080565 10080565 single base substitution C A stop_gained E449* 1345G>T LUSC-US 4 10089385 10089385 deletion of <=200bp C - downstream_gene_variant LUSC-US 4 10089385 10089385 deletion of <=200bp C - exon_variant LUSC-US 4 10089385 10089385 deletion of <=200bp C - frameshift_variant G159 LUSC-US 4 10089385 10089385 deletion of <=200bp C - frameshift_variant G299 MALY-DE 4 10083418 10083418 single base substitution C T downstream_gene_variant MALY-DE 4 10083418 10083418 single base substitution C T intron_variant MALY-DE 4 10084994 10084994 single base substitution G C downstream_gene_variant MALY-DE 4 10084994 10084994 single base substitution G C intron_variant MALY-DE 4 10094889 10094889 single base substitution C T downstream_gene_variant MALY-DE 4 10094889 10094889 single base substitution C T intron_variant MALY-DE 4 10094889 10094889 single base substitution C T upstream_gene_variant MALY-DE 4 10096245 10096245 single base substitution C T downstream_gene_variant MALY-DE 4 10096245 10096245 single base substitution C T intron_variant MALY-DE 4 10096245 10096245 single base substitution C T upstream_gene_variant MALY-DE 4 10102092 10102092 single base substitution G A intron_variant MALY-DE 4 10102092 10102092 single base substitution G A upstream_gene_variant MALY-DE 4 10102181 10102181 single base substitution C T intron_variant MALY-DE 4 10102181 10102181 single base substitution C T upstream_gene_variant MALY-DE 4 10102343 10102343 single base substitution G A intron_variant MALY-DE 4 10102343 10102343 single base substitution G A upstream_gene_variant MALY-DE 4 10105734 10105734 single base substitution G A intron_variant MALY-DE 4 10117876 10117876 single base substitution C T intron_variant MALY-DE 4 10117876 10117876 single base substitution C T missense_variant R4H 11G>A MALY-DE 4 10119246 10119246 single base substitution G A upstream_gene_variant MELA-AU 4 10071324 10071324 single base substitution C T downstream_gene_variant MELA-AU 4 10071379 10071379 single base substitution G A downstream_gene_variant MELA-AU 4 10071596 10071596 single base substitution A G downstream_gene_variant MELA-AU 4 10072088 10072088 single base substitution A G downstream_gene_variant MELA-AU 4 10072289 10072289 single base substitution G A downstream_gene_variant MELA-AU 4 10073334 10073334 single base substitution G A downstream_gene_variant MELA-AU 4 10073482 10073482 single base substitution A G downstream_gene_variant MELA-AU 4 10073506 10073506 single base substitution G A downstream_gene_variant MELA-AU 4 10073755 10073755 single base substitution G A downstream_gene_variant MELA-AU 4 10073981 10073981 single base substitution A C downstream_gene_variant MELA-AU 4 10074196 10074196 single base substitution G A downstream_gene_variant MELA-AU 4 10074322 10074322 single base substitution C T downstream_gene_variant MELA-AU 4 10074637 10074637 single base substitution C G downstream_gene_variant MELA-AU 4 10074727 10074727 single base substitution G A downstream_gene_variant MELA-AU 4 10074775 10074775 single base substitution G A downstream_gene_variant MELA-AU 4 10075002 10075002 single base substitution A G downstream_gene_variant MELA-AU 4 10075065 10075065 single base substitution T A downstream_gene_variant MELA-AU 4 10075293 10075293 single base substitution C T downstream_gene_variant MELA-AU 4 10075575 10075575 single base substitution G A downstream_gene_variant MELA-AU 4 10075680 10075680 single base substitution T G downstream_gene_variant MELA-AU 4 10076239 10076239 single base substitution G A 3_prime_UTR_variant MELA-AU 4 10076239 10076239 single base substitution G A downstream_gene_variant MELA-AU 4 10076857 10076857 single base substitution G A 3_prime_UTR_variant MELA-AU 4 10076857 10076857 single base substitution G A downstream_gene_variant MELA-AU 4 10076857 10076857 single base substitution G A exon_variant MELA-AU 4 10076943 10076943 single base substitution C T 3_prime_UTR_variant MELA-AU 4 10076943 10076943 single base substitution C T downstream_gene_variant MELA-AU 4 10076943 10076943 single base substitution C T exon_variant MELA-AU 4 10077175 10077175 single base substitution G A intron_variant MELA-AU 4 10078483 10078483 single base substitution G A exon_variant MELA-AU 4 10078483 10078483 single base substitution G A intron_variant MELA-AU 4 10078566 10078566 single base substitution G A exon_variant MELA-AU 4 10078566 10078566 single base substitution G A intron_variant MELA-AU 4 10078647 10078647 single base substitution G A exon_variant MELA-AU 4 10078647 10078647 single base substitution G A intron_variant MELA-AU 4 10078669 10078669 single base substitution A G exon_variant MELA-AU 4 10078669 10078669 single base substitution A G intron_variant MELA-AU 4 10078714 10078714 single base substitution C A exon_variant MELA-AU 4 10078714 10078714 single base substitution C A intron_variant MELA-AU 4 10078893 10078894 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 10079165 10079165 single base substitution G A intron_variant MELA-AU 4 10079176 10079176 single base substitution C T intron_variant MELA-AU 4 10079229 10079230 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 4 10079797 10079797 single base substitution G A intron_variant MELA-AU 4 10080142 10080142 single base substitution C A intron_variant MELA-AU 4 10080298 10080298 single base substitution G A intron_variant MELA-AU 4 10080309 10080309 single base substitution G A intron_variant MELA-AU 4 10080322 10080322 single base substitution G A intron_variant MELA-AU 4 10080338 10080338 single base substitution G A intron_variant MELA-AU 4 10080693 10080694 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 10080696 10080696 single base substitution C G intron_variant MELA-AU 4 10080833 10080833 single base substitution G A intron_variant MELA-AU 4 10081695 10081695 single base substitution G A downstream_gene_variant MELA-AU 4 10081695 10081695 single base substitution G A intron_variant MELA-AU 4 10081827 10081827 single base substitution G A downstream_gene_variant MELA-AU 4 10081827 10081827 single base substitution G A intron_variant MELA-AU 4 10084618 10084618 single base substitution G A downstream_gene_variant MELA-AU 4 10084618 10084618 single base substitution G A intron_variant MELA-AU 4 10086249 10086249 single base substitution G A downstream_gene_variant MELA-AU 4 10086249 10086249 single base substitution G A intron_variant MELA-AU 4 10086545 10086545 single base substitution G A downstream_gene_variant MELA-AU 4 10086545 10086545 single base substitution G A intron_variant MELA-AU 4 10087773 10087773 single base substitution A C downstream_gene_variant MELA-AU 4 10087773 10087773 single base substitution A C intron_variant MELA-AU 4 10088518 10088518 single base substitution G A downstream_gene_variant MELA-AU 4 10088518 10088518 single base substitution G A intron_variant MELA-AU 4 10088556 10088556 single base substitution G A downstream_gene_variant MELA-AU 4 10088556 10088556 single base substitution G A intron_variant MELA-AU 4 10088688 10088688 single base substitution C T downstream_gene_variant MELA-AU 4 10088688 10088688 single base substitution C T intron_variant MELA-AU 4 10088697 10088698 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 10088697 10088698 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 10089116 10089116 single base substitution G A downstream_gene_variant MELA-AU 4 10089116 10089116 single base substitution G A intron_variant MELA-AU 4 10089448 10089448 single base substitution A T downstream_gene_variant MELA-AU 4 10089448 10089448 single base substitution A T exon_variant MELA-AU 4 10089448 10089448 single base substitution A T synonymous_variant V138V 414T>A MELA-AU 4 10089448 10089448 single base substitution A T synonymous_variant V278V 834T>A MELA-AU 4 10089703 10089703 single base substitution G A downstream_gene_variant MELA-AU 4 10089703 10089703 single base substitution G A intron_variant MELA-AU 4 10089835 10089835 single base substitution A G downstream_gene_variant MELA-AU 4 10089835 10089835 single base substitution A G intron_variant MELA-AU 4 10090868 10090868 single base substitution G A intron_variant MELA-AU 4 10091266 10091266 single base substitution A G intron_variant MELA-AU 4 10091271 10091271 single base substitution G A intron_variant MELA-AU 4 10091901 10091903 deletion of <=200bp TAA - intron_variant MELA-AU 4 10092374 10092374 single base substitution G A intron_variant MELA-AU 4 10092436 10092436 single base substitution G A intron_variant MELA-AU 4 10092497 10092497 single base substitution G A intron_variant MELA-AU 4 10092673 10092673 single base substitution C T intron_variant MELA-AU 4 10093874 10093874 single base substitution C A exon_variant MELA-AU 4 10093874 10093874 single base substitution C A intron_variant MELA-AU 4 10094212 10094213 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 4 10094212 10094213 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 10094278 10094278 single base substitution G A exon_variant MELA-AU 4 10094278 10094278 single base substitution G A intron_variant MELA-AU 4 10094413 10094413 single base substitution A G downstream_gene_variant MELA-AU 4 10094413 10094413 single base substitution A G exon_variant MELA-AU 4 10094413 10094413 single base substitution A G intron_variant MELA-AU 4 10094526 10094526 single base substitution C T downstream_gene_variant MELA-AU 4 10094526 10094526 single base substitution C T exon_variant MELA-AU 4 10094526 10094526 single base substitution C T intron_variant MELA-AU 4 10094972 10094972 single base substitution G A downstream_gene_variant MELA-AU 4 10094972 10094972 single base substitution G A intron_variant MELA-AU 4 10094972 10094972 single base substitution G A upstream_gene_variant MELA-AU 4 10095372 10095372 single base substitution G A downstream_gene_variant MELA-AU 4 10095372 10095372 single base substitution G A intron_variant MELA-AU 4 10095372 10095372 single base substitution G A upstream_gene_variant MELA-AU 4 10095922 10095922 single base substitution G A downstream_gene_variant MELA-AU 4 10095922 10095922 single base substitution G A intron_variant MELA-AU 4 10095922 10095922 single base substitution G A upstream_gene_variant MELA-AU 4 10096773 10096773 single base substitution G A downstream_gene_variant MELA-AU 4 10096773 10096773 single base substitution G A intron_variant MELA-AU 4 10096773 10096773 single base substitution G A upstream_gene_variant MELA-AU 4 10097726 10097726 single base substitution A G downstream_gene_variant MELA-AU 4 10097726 10097726 single base substitution A G exon_variant MELA-AU 4 10097726 10097726 single base substitution A G intron_variant MELA-AU 4 10097726 10097726 single base substitution A G upstream_gene_variant MELA-AU 4 10097770 10097770 single base substitution G A downstream_gene_variant MELA-AU 4 10097770 10097770 single base substitution G A exon_variant MELA-AU 4 10097770 10097770 single base substitution G A intron_variant MELA-AU 4 10097770 10097770 single base substitution G A upstream_gene_variant MELA-AU 4 10097893 10097893 single base substitution C T downstream_gene_variant MELA-AU 4 10097893 10097893 single base substitution C T intron_variant MELA-AU 4 10097893 10097893 single base substitution C T upstream_gene_variant MELA-AU 4 10097923 10097923 single base substitution G A downstream_gene_variant MELA-AU 4 10097923 10097923 single base substitution G A intron_variant MELA-AU 4 10097923 10097923 single base substitution G A upstream_gene_variant MELA-AU 4 10098429 10098429 single base substitution C T downstream_gene_variant MELA-AU 4 10098429 10098429 single base substitution C T intron_variant MELA-AU 4 10098429 10098429 single base substitution C T upstream_gene_variant MELA-AU 4 10098885 10098885 single base substitution G A downstream_gene_variant MELA-AU 4 10098885 10098885 single base substitution G A intron_variant MELA-AU 4 10098885 10098885 single base substitution G A upstream_gene_variant MELA-AU 4 10100094 10100094 single base substitution G A downstream_gene_variant MELA-AU 4 10100094 10100094 single base substitution G A intron_variant MELA-AU 4 10100094 10100094 single base substitution G A upstream_gene_variant MELA-AU 4 10100283 10100284 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 10100283 10100284 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 10100283 10100284 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 10100681 10100681 single base substitution C T exon_variant MELA-AU 4 10100681 10100681 single base substitution C T intron_variant MELA-AU 4 10100681 10100681 single base substitution C T synonymous_variant K104K 312G>A MELA-AU 4 10100681 10100681 single base substitution C T synonymous_variant K108K 324G>A MELA-AU 4 10100681 10100681 single base substitution C T upstream_gene_variant MELA-AU 4 10100918 10100918 single base substitution T C intron_variant MELA-AU 4 10100918 10100918 single base substitution T C upstream_gene_variant MELA-AU 4 10101308 10101308 single base substitution G A intron_variant MELA-AU 4 10101308 10101308 single base substitution G A upstream_gene_variant MELA-AU 4 10101833 10101833 single base substitution C T intron_variant MELA-AU 4 10101833 10101833 single base substitution C T upstream_gene_variant MELA-AU 4 10101998 10101998 single base substitution C T intron_variant MELA-AU 4 10101998 10101998 single base substitution C T upstream_gene_variant MELA-AU 4 10102439 10102439 single base substitution C A intron_variant MELA-AU 4 10102439 10102439 single base substitution C A upstream_gene_variant MELA-AU 4 10102944 10102944 single base substitution C A intron_variant MELA-AU 4 10102944 10102944 single base substitution C A upstream_gene_variant MELA-AU 4 10103536 10103536 single base substitution G A intron_variant MELA-AU 4 10103669 10103669 insertion of <=200bp - A intron_variant MELA-AU 4 10104118 10104118 single base substitution C T intron_variant MELA-AU 4 10104921 10104921 single base substitution C G intron_variant MELA-AU 4 10105093 10105093 single base substitution G A intron_variant MELA-AU 4 10105519 10105519 single base substitution C T intron_variant MELA-AU 4 10105519 10105519 single base substitution C T splice_donor_variant MELA-AU 4 10105642 10105642 single base substitution G A intron_variant MELA-AU 4 10106105 10106105 single base substitution G A intron_variant MELA-AU 4 10108356 10108356 single base substitution G A intron_variant MELA-AU 4 10108356 10108356 single base substitution G A upstream_gene_variant MELA-AU 4 10109950 10109950 single base substitution G A exon_variant MELA-AU 4 10109950 10109950 single base substitution G A intron_variant MELA-AU 4 10109950 10109950 single base substitution G A upstream_gene_variant MELA-AU 4 10110186 10110186 single base substitution G A intron_variant MELA-AU 4 10110186 10110186 single base substitution G A upstream_gene_variant MELA-AU 4 10110641 10110654 deletion of <=200bp GCTGGAGCCTGGTA - intron_variant MELA-AU 4 10110641 10110654 deletion of <=200bp GCTGGAGCCTGGTA - upstream_gene_variant MELA-AU 4 10110766 10110767 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 10110766 10110767 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 10110828 10110828 single base substitution C A intron_variant MELA-AU 4 10110828 10110828 single base substitution C A upstream_gene_variant MELA-AU 4 10111836 10111836 single base substitution C T intron_variant MELA-AU 4 10111836 10111836 single base substitution C T upstream_gene_variant MELA-AU 4 10112186 10112186 single base substitution C G intron_variant MELA-AU 4 10112186 10112186 single base substitution C G upstream_gene_variant MELA-AU 4 10113185 10113185 single base substitution G A downstream_gene_variant MELA-AU 4 10113185 10113185 single base substitution G A intron_variant MELA-AU 4 10114849 10114849 single base substitution T C downstream_gene_variant MELA-AU 4 10114849 10114849 single base substitution T C intron_variant MELA-AU 4 10115426 10115426 single base substitution G T downstream_gene_variant MELA-AU 4 10115426 10115426 single base substitution G T intron_variant MELA-AU 4 10116689 10116689 single base substitution G A downstream_gene_variant MELA-AU 4 10116689 10116689 single base substitution G A intron_variant MELA-AU 4 10117238 10117238 single base substitution T C downstream_gene_variant MELA-AU 4 10117238 10117238 single base substitution T C intron_variant MELA-AU 4 10118611 10118611 single base substitution C A upstream_gene_variant MELA-AU 4 10118665 10118665 single base substitution T A upstream_gene_variant MELA-AU 4 10120106 10120106 single base substitution C T upstream_gene_variant MELA-AU 4 10120433 10120433 single base substitution C T upstream_gene_variant MELA-AU 4 10120443 10120443 single base substitution C T upstream_gene_variant MELA-AU 4 10120538 10120538 single base substitution C T upstream_gene_variant MELA-AU 4 10121271 10121271 single base substitution G A upstream_gene_variant MELA-AU 4 10121480 10121480 single base substitution A G upstream_gene_variant MELA-AU 4 10122400 10122400 single base substitution G A upstream_gene_variant MELA-AU 4 10122481 10122481 single base substitution C T upstream_gene_variant MELA-AU 4 10123001 10123001 single base substitution C G upstream_gene_variant MELA-AU 4 10123163 10123163 single base substitution C T upstream_gene_variant MELA-AU 4 10123274 10123274 single base substitution C T upstream_gene_variant MELA-AU 4 10123285 10123285 single base substitution G A upstream_gene_variant MELA-AU 4 10123291 10123291 single base substitution G A upstream_gene_variant MELA-AU 4 10123442 10123442 single base substitution C T upstream_gene_variant MELA-AU 4 10123564 10123564 single base substitution G A upstream_gene_variant ORCA-IN 4 10079442 10079442 single base substitution C T exon_variant ORCA-IN 4 10079442 10079442 single base substitution C T missense_variant A362T 1084G>A ORCA-IN 4 10079442 10079442 single base substitution C T missense_variant A502T 1504G>A ORCA-IN 4 10083028 10083028 single base substitution C T downstream_gene_variant ORCA-IN 4 10083028 10083028 single base substitution C T exon_variant ORCA-IN 4 10083028 10083028 single base substitution C T missense_variant V273I 817G>A ORCA-IN 4 10083028 10083028 single base substitution C T missense_variant V413I 1237G>A OV-AU 4 10076589 10076589 single base substitution A G 3_prime_UTR_variant OV-AU 4 10076589 10076589 single base substitution A G downstream_gene_variant OV-AU 4 10078157 10078157 single base substitution T A exon_variant OV-AU 4 10078157 10078157 single base substitution T A intron_variant OV-AU 4 10081309 10081309 single base substitution G A downstream_gene_variant OV-AU 4 10081309 10081309 single base substitution G A intron_variant OV-AU 4 10084137 10084137 single base substitution C A downstream_gene_variant OV-AU 4 10084137 10084137 single base substitution C A intron_variant OV-AU 4 10086025 10086025 single base substitution G T downstream_gene_variant OV-AU 4 10086025 10086025 single base substitution G T intron_variant OV-AU 4 10086032 10086032 single base substitution C A downstream_gene_variant OV-AU 4 10086032 10086032 single base substitution C A intron_variant OV-AU 4 10086591 10086591 single base substitution C G downstream_gene_variant OV-AU 4 10086591 10086591 single base substitution C G intron_variant OV-AU 4 10087572 10087572 single base substitution T C downstream_gene_variant OV-AU 4 10087572 10087572 single base substitution T C intron_variant OV-AU 4 10097295 10097295 single base substitution C G downstream_gene_variant OV-AU 4 10097295 10097295 single base substitution C G intron_variant OV-AU 4 10097295 10097295 single base substitution C G upstream_gene_variant OV-AU 4 10102760 10102760 single base substitution G A intron_variant OV-AU 4 10102760 10102760 single base substitution G A upstream_gene_variant OV-AU 4 10104925 10104925 single base substitution C G intron_variant OV-AU 4 10105679 10105679 single base substitution A G intron_variant OV-AU 4 10111853 10111853 single base substitution C A intron_variant OV-AU 4 10111853 10111853 single base substitution C A upstream_gene_variant OV-AU 4 10113284 10113284 single base substitution G C downstream_gene_variant OV-AU 4 10113284 10113284 single base substitution G C intron_variant OV-AU 4 10113846 10113846 single base substitution G C downstream_gene_variant OV-AU 4 10113846 10113846 single base substitution G C intron_variant OV-AU 4 10116159 10116159 single base substitution A C downstream_gene_variant OV-AU 4 10116159 10116159 single base substitution A C intron_variant OV-AU 4 10118374 10118374 single base substitution G A 5_prime_UTR_variant OV-AU 4 10118374 10118374 single base substitution G A exon_variant OV-AU 4 10118374 10118374 single base substitution G A upstream_gene_variant OV-AU 4 10118747 10118747 single base substitution C T upstream_gene_variant OV-US 4 10079011 10079011 single base substitution T C exon_variant OV-US 4 10079011 10079011 single base substitution T C missense_variant N404S 1211A>G OV-US 4 10079011 10079011 single base substitution T C missense_variant N544S 1631A>G PACA-AU 4 10077814 10077814 deletion of <=200bp C - exon_variant PACA-AU 4 10077814 10077814 deletion of <=200bp C - intron_variant PACA-AU 4 10089100 10089100 single base substitution T C downstream_gene_variant PACA-AU 4 10089100 10089100 single base substitution T C intron_variant PACA-AU 4 10090505 10090505 deletion of <=200bp A - intron_variant PACA-AU 4 10093685 10093685 single base substitution C T exon_variant PACA-AU 4 10093685 10093685 single base substitution C T intron_variant PACA-AU 4 10098105 10098105 single base substitution G A downstream_gene_variant PACA-AU 4 10098105 10098105 single base substitution G A exon_variant PACA-AU 4 10098105 10098105 single base substitution G A intron_variant PACA-AU 4 10098105 10098105 single base substitution G A upstream_gene_variant PACA-AU 4 10103024 10103024 single base substitution A C intron_variant PACA-AU 4 10103024 10103024 single base substitution A C upstream_gene_variant PACA-AU 4 10109681 10109681 deletion of <=200bp C - intron_variant PACA-AU 4 10109681 10109681 deletion of <=200bp C - upstream_gene_variant PACA-AU 4 10116175 10116175 single base substitution A C downstream_gene_variant PACA-AU 4 10116175 10116175 single base substitution A C intron_variant PACA-AU 4 10119406 10119409 deletion of <=200bp TCTC - upstream_gene_variant PACA-AU 4 10119879 10119879 single base substitution T C upstream_gene_variant PACA-CA 4 10072858 10072858 single base substitution A T downstream_gene_variant PACA-CA 4 10073183 10073183 single base substitution A G downstream_gene_variant PACA-CA 4 10077297 10077297 single base substitution C A intron_variant PACA-CA 4 10079235 10079235 single base substitution G T intron_variant PACA-CA 4 10083606 10083606 single base substitution C T downstream_gene_variant PACA-CA 4 10083606 10083606 single base substitution C T intron_variant PACA-CA 4 10084827 10084827 single base substitution C T downstream_gene_variant PACA-CA 4 10084827 10084827 single base substitution C T intron_variant PACA-CA 4 10084852 10084852 single base substitution T C downstream_gene_variant PACA-CA 4 10084852 10084852 single base substitution T C intron_variant PACA-CA 4 10086583 10086583 single base substitution T A downstream_gene_variant PACA-CA 4 10086583 10086583 single base substitution T A intron_variant PACA-CA 4 10091157 10091157 single base substitution C A intron_variant PACA-CA 4 10099337 10099337 single base substitution C T downstream_gene_variant PACA-CA 4 10099337 10099337 single base substitution C T exon_variant PACA-CA 4 10099337 10099337 single base substitution C T intron_variant PACA-CA 4 10099337 10099337 single base substitution C T missense_variant G186S 556G>A PACA-CA 4 10099337 10099337 single base substitution C T missense_variant G190S 568G>A PACA-CA 4 10099337 10099337 single base substitution C T upstream_gene_variant PACA-CA 4 10102003 10102003 single base substitution A T intron_variant PACA-CA 4 10102003 10102003 single base substitution A T upstream_gene_variant PACA-CA 4 10103402 10103402 single base substitution C A intron_variant PACA-CA 4 10105237 10105237 single base substitution T C intron_variant PACA-CA 4 10108385 10108385 single base substitution G T intron_variant PACA-CA 4 10108385 10108385 single base substitution G T upstream_gene_variant PACA-CA 4 10108928 10108928 single base substitution T A intron_variant PACA-CA 4 10108928 10108928 single base substitution T A upstream_gene_variant PACA-CA 4 10115766 10115766 single base substitution C A downstream_gene_variant PACA-CA 4 10115766 10115766 single base substitution C A intron_variant PAEN-AU 4 10095250 10095250 single base substitution A T downstream_gene_variant PAEN-AU 4 10095250 10095250 single base substitution A T intron_variant PAEN-AU 4 10095250 10095250 single base substitution A T upstream_gene_variant PAEN-AU 4 10097095 10097095 single base substitution G A downstream_gene_variant PAEN-AU 4 10097095 10097095 single base substitution G A intron_variant PAEN-AU 4 10097095 10097095 single base substitution G A upstream_gene_variant PAEN-AU 4 10098695 10098695 single base substitution C A downstream_gene_variant PAEN-AU 4 10098695 10098695 single base substitution C A intron_variant PAEN-AU 4 10098695 10098695 single base substitution C A upstream_gene_variant PAEN-AU 4 10118453 10118453 single base substitution A T 5_prime_UTR_variant PAEN-AU 4 10118453 10118453 single base substitution A T exon_variant PAEN-AU 4 10118453 10118453 single base substitution A T upstream_gene_variant PAEN-IT 4 10098155 10098155 single base substitution G A downstream_gene_variant PAEN-IT 4 10098155 10098155 single base substitution G A exon_variant PAEN-IT 4 10098155 10098155 single base substitution G A intron_variant PAEN-IT 4 10098155 10098155 single base substitution G A upstream_gene_variant PAEN-IT 4 10115684 10115684 single base substitution C T downstream_gene_variant PAEN-IT 4 10115684 10115684 single base substitution C T intron_variant PBCA-DE 4 10072912 10072912 single base substitution G T downstream_gene_variant PBCA-DE 4 10075192 10075192 single base substitution C A downstream_gene_variant PBCA-DE 4 10086763 10086763 single base substitution C T downstream_gene_variant PBCA-DE 4 10086763 10086763 single base substitution C T intron_variant PBCA-DE 4 10101410 10101410 single base substitution C A intron_variant PBCA-DE 4 10101410 10101410 single base substitution C A upstream_gene_variant PBCA-DE 4 10105406 10105406 single base substitution A C intron_variant PRAD-UK 4 10071107 10071107 single base substitution G A downstream_gene_variant PRAD-UK 4 10090587 10090587 single base substitution G A intron_variant PRAD-UK 4 10091956 10091956 single base substitution A G intron_variant PRAD-UK 4 10093791 10093791 single base substitution G T exon_variant PRAD-UK 4 10093791 10093791 single base substitution G T intron_variant PRAD-UK 4 10093987 10093987 deletion of <=200bp G - exon_variant PRAD-UK 4 10093987 10093987 deletion of <=200bp G - intron_variant PRAD-UK 4 10107356 10107356 single base substitution G A intron_variant PRAD-UK 4 10118055 10118055 single base substitution G T exon_variant PRAD-UK 4 10118055 10118055 single base substitution G T intron_variant PRAD-UK 4 10118055 10118055 single base substitution G T upstream_gene_variant PRAD-UK 4 10118056 10118056 single base substitution G T exon_variant PRAD-UK 4 10118056 10118056 single base substitution G T intron_variant PRAD-UK 4 10118056 10118056 single base substitution G T upstream_gene_variant PRAD-US 4 10089926 10089927 deletion of <=200bp CC - exon_variant PRAD-US 4 10089926 10089927 deletion of <=200bp CC - frameshift_variant G236 PRAD-US 4 10089926 10089927 deletion of <=200bp CC - frameshift_variant G240 PRAD-US 4 10089926 10089927 deletion of <=200bp CC - frameshift_variant G96 READ-US 4 10090337 10090337 single base substitution C T exon_variant READ-US 4 10090337 10090337 single base substitution C T missense_variant R196Q 587G>A READ-US 4 10090337 10090337 single base substitution C T missense_variant R200Q 599G>A READ-US 4 10090337 10090337 single base substitution C T missense_variant R56Q 167G>A RECA-EU 4 10074731 10074731 single base substitution G C downstream_gene_variant RECA-EU 4 10093104 10093104 single base substitution G A intron_variant RECA-EU 4 10094102 10094102 single base substitution G C exon_variant RECA-EU 4 10094102 10094102 single base substitution G C intron_variant RECA-EU 4 10095037 10095037 single base substitution G T downstream_gene_variant RECA-EU 4 10095037 10095037 single base substitution G T intron_variant RECA-EU 4 10095037 10095037 single base substitution G T upstream_gene_variant RECA-EU 4 10115113 10115113 single base substitution G T downstream_gene_variant RECA-EU 4 10115113 10115113 single base substitution G T intron_variant RECA-EU 4 10122677 10122677 single base substitution C A upstream_gene_variant SKCA-BR 4 10076444 10076444 single base substitution G A 3_prime_UTR_variant SKCA-BR 4 10076444 10076444 single base substitution G A downstream_gene_variant SKCA-BR 4 10076445 10076445 single base substitution G A 3_prime_UTR_variant SKCA-BR 4 10076445 10076445 single base substitution G A downstream_gene_variant SKCA-BR 4 10076909 10076909 single base substitution G A 3_prime_UTR_variant SKCA-BR 4 10076909 10076909 single base substitution G A downstream_gene_variant SKCA-BR 4 10076909 10076909 single base substitution G A exon_variant SKCA-BR 4 10079585 10079585 single base substitution T C intron_variant SKCA-BR 4 10080518 10080518 single base substitution A C exon_variant SKCA-BR 4 10080518 10080518 single base substitution A C synonymous_variant G324G 972T>G SKCA-BR 4 10080518 10080518 single base substitution A C synonymous_variant G464G 1392T>G SKCA-BR 4 10083699 10083699 single base substitution G A downstream_gene_variant SKCA-BR 4 10083699 10083699 single base substitution G A intron_variant SKCA-BR 4 10084302 10084302 single base substitution T G downstream_gene_variant SKCA-BR 4 10084302 10084302 single base substitution T G intron_variant SKCA-BR 4 10086656 10086656 single base substitution A T downstream_gene_variant SKCA-BR 4 10086656 10086656 single base substitution A T intron_variant SKCA-BR 4 10087766 10087766 single base substitution C T downstream_gene_variant SKCA-BR 4 10087766 10087766 single base substitution C T intron_variant SKCA-BR 4 10093809 10093810 deletion of <=200bp CT - exon_variant SKCA-BR 4 10093809 10093810 deletion of <=200bp CT - intron_variant SKCA-BR 4 10094914 10094914 single base substitution G A downstream_gene_variant SKCA-BR 4 10094914 10094914 single base substitution G A intron_variant SKCA-BR 4 10094914 10094914 single base substitution G A upstream_gene_variant SKCA-BR 4 10095349 10095349 single base substitution T A downstream_gene_variant SKCA-BR 4 10095349 10095349 single base substitution T A intron_variant SKCA-BR 4 10095349 10095349 single base substitution T A upstream_gene_variant SKCA-BR 4 10100120 10100120 single base substitution C G downstream_gene_variant SKCA-BR 4 10100120 10100120 single base substitution C G intron_variant SKCA-BR 4 10100120 10100120 single base substitution C G upstream_gene_variant SKCA-BR 4 10101565 10101565 single base substitution A C intron_variant SKCA-BR 4 10101565 10101565 single base substitution A C upstream_gene_variant SKCA-BR 4 10103228 10103228 single base substitution T A intron_variant SKCA-BR 4 10103228 10103228 single base substitution T A upstream_gene_variant SKCA-BR 4 10105188 10105188 single base substitution G A intron_variant SKCA-BR 4 10106525 10106525 single base substitution C A intron_variant SKCA-BR 4 10107746 10107746 single base substitution C G intron_variant SKCA-BR 4 10109457 10109457 single base substitution G A intron_variant SKCA-BR 4 10109457 10109457 single base substitution G A upstream_gene_variant SKCA-BR 4 10111283 10111283 single base substitution G A intron_variant SKCA-BR 4 10111283 10111283 single base substitution G A upstream_gene_variant SKCA-BR 4 10118168 10118168 single base substitution T C intron_variant SKCA-BR 4 10118168 10118168 single base substitution T C upstream_gene_variant SKCA-BR 4 10118396 10118396 single base substitution G A 5_prime_UTR_variant SKCA-BR 4 10118396 10118396 single base substitution G A exon_variant SKCA-BR 4 10118396 10118396 single base substitution G A upstream_gene_variant SKCA-BR 4 10118623 10118623 insertion of <=200bp - GC upstream_gene_variant SKCA-BR 4 10118666 10118666 single base substitution A G upstream_gene_variant SKCA-BR 4 10121994 10121994 single base substitution C T upstream_gene_variant SKCM-US 4 10078985 10078985 single base substitution C T exon_variant SKCM-US 4 10078985 10078985 single base substitution C T missense_variant D413N 1237G>A SKCM-US 4 10078985 10078985 single base substitution C T missense_variant D553N 1657G>A SKCM-US 4 10079017 10079017 single base substitution G A exon_variant SKCM-US 4 10079017 10079017 single base substitution G A missense_variant P402L 1205C>T SKCM-US 4 10079017 10079017 single base substitution G A missense_variant P542L 1625C>T SKCM-US 4 10079019 10079019 single base substitution G A exon_variant SKCM-US 4 10079019 10079019 single base substitution G A synonymous_variant S401S 1203C>T SKCM-US 4 10079019 10079019 single base substitution G A synonymous_variant S541S 1623C>T SKCM-US 4 10084736 10084736 single base substitution G A downstream_gene_variant SKCM-US 4 10084736 10084736 single base substitution G A exon_variant SKCM-US 4 10084736 10084736 single base substitution G A missense_variant S229F 686C>T SKCM-US 4 10084736 10084736 single base substitution G A missense_variant S369F 1106C>T SKCM-US 4 10084769 10084769 single base substitution G A downstream_gene_variant SKCM-US 4 10084769 10084769 single base substitution G A exon_variant SKCM-US 4 10084769 10084769 single base substitution G A missense_variant S218F 653C>T SKCM-US 4 10084769 10084769 single base substitution G A missense_variant S358F 1073C>T SKCM-US 4 10086141 10086141 single base substitution G A downstream_gene_variant SKCM-US 4 10086141 10086141 single base substitution G A exon_variant SKCM-US 4 10086141 10086141 single base substitution G A missense_variant S182L 545C>T SKCM-US 4 10086141 10086141 single base substitution G A missense_variant S322L 965C>T SKCM-US 4 10100722 10100722 single base substitution C T exon_variant SKCM-US 4 10100722 10100722 single base substitution C T intron_variant SKCM-US 4 10100722 10100722 single base substitution C T missense_variant E91K 271G>A SKCM-US 4 10100722 10100722 single base substitution C T missense_variant E95K 283G>A SKCM-US 4 10100722 10100722 single base substitution C T upstream_gene_variant SKCM-US 4 10105519 10105519 single base substitution C T intron_variant SKCM-US 4 10105519 10105519 single base substitution C T splice_donor_variant SKCM-US 4 10117765 10117765 single base substitution C T exon_variant SKCM-US 4 10117765 10117765 single base substitution C T missense_variant G37E 110G>A SKCM-US 4 10117765 10117765 single base substitution C T missense_variant G41E 122G>A STAD-US 4 10080545 10080545 single base substitution G A exon_variant STAD-US 4 10080545 10080545 single base substitution G A synonymous_variant P315P 945C>T STAD-US 4 10080545 10080545 single base substitution G A synonymous_variant P455P 1365C>T STAD-US 4 10080565 10080565 single base substitution C T exon_variant STAD-US 4 10080565 10080565 single base substitution C T missense_variant E309K 925G>A STAD-US 4 10080565 10080565 single base substitution C T missense_variant E449K 1345G>A STAD-US 4 10083028 10083028 single base substitution C T downstream_gene_variant STAD-US 4 10083028 10083028 single base substitution C T exon_variant STAD-US 4 10083028 10083028 single base substitution C T missense_variant V273I 817G>A STAD-US 4 10083028 10083028 single base substitution C T missense_variant V413I 1237G>A UCEC-US 4 10079466 10079466 single base substitution C T exon_variant UCEC-US 4 10079466 10079466 single base substitution C T missense_variant D354N 1060G>A UCEC-US 4 10079466 10079466 single base substitution C T missense_variant D494N 1480G>A UCEC-US 4 10083062 10083062 deletion of <=200bp T - downstream_gene_variant UCEC-US 4 10083062 10083062 deletion of <=200bp T - exon_variant UCEC-US 4 10083062 10083062 deletion of <=200bp T - frameshift_variant Q261 UCEC-US 4 10083062 10083062 deletion of <=200bp T - frameshift_variant Q401 UCEC-US 4 10084714 10084714 single base substitution C T downstream_gene_variant UCEC-US 4 10084714 10084714 single base substitution C T exon_variant UCEC-US 4 10084714 10084714 single base substitution C T synonymous_variant S236S 708G>A UCEC-US 4 10084714 10084714 single base substitution C T synonymous_variant S376S 1128G>A UCEC-US 4 10089430 10089430 single base substitution G A downstream_gene_variant UCEC-US 4 10089430 10089430 single base substitution G A exon_variant UCEC-US 4 10089430 10089430 single base substitution G A synonymous_variant G144G 432C>T UCEC-US 4 10089430 10089430 single base substitution G A synonymous_variant G284G 852C>T UCEC-US 4 10089957 10089957 single base substitution G A exon_variant UCEC-US 4 10089957 10089957 single base substitution G A missense_variant A226V 677C>T UCEC-US 4 10089957 10089957 single base substitution G A missense_variant A230V 689C>T UCEC-US 4 10089957 10089957 single base substitution G A missense_variant A86V 257C>T UCEC-US 4 10090252 10090252 single base substitution G T intron_variant UCEC-US 4 10099374 10099374 single base substitution G T downstream_gene_variant UCEC-US 4 10099374 10099374 single base substitution G T exon_variant UCEC-US 4 10099374 10099374 single base substitution G T intron_variant UCEC-US 4 10099374 10099374 single base substitution G T missense_variant F173L 519C>A UCEC-US 4 10099374 10099374 single base substitution G T missense_variant F177L 531C>A UCEC-US 4 10099374 10099374 single base substitution G T upstream_gene_variant UCEC-US 4 10100688 10100688 single base substitution G A exon_variant UCEC-US 4 10100688 10100688 single base substitution G A intron_variant UCEC-US 4 10100688 10100688 single base substitution G A missense_variant A102V 305C>T UCEC-US 4 10100688 10100688 single base substitution G A missense_variant A106V 317C>T UCEC-US 4 10100688 10100688 single base substitution G A upstream_gene_variant UCEC-US 4 10105549 10105549 single base substitution G A exon_variant UCEC-US 4 10105549 10105549 single base substitution G A intron_variant UCEC-US 4 10105549 10105549 single base substitution G A missense_variant A67V 200C>T UCEC-US 4 10105549 10105549 single base substitution G A missense_variant A71V 212C>T UCEC-US 4 10105609 10105609 single base substitution T C intron_variant UCEC-US 4 10105609 10105609 single base substitution T C missense_variant N47S 140A>G UCEC-US 4 10105609 10105609 single base substitution T C missense_variant N51S 152A>G UCEC-US 4 10105609 10105609 single base substitution T C splice_region_variant UCEC-US 4 10117777 10117777 single base substitution A G exon_variant UCEC-US 4 10117777 10117777 single base substitution A G missense_variant L33P 98T>C UCEC-US 4 10117777 10117777 single base substitution A G missense_variant L37P 110T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Gp2D COSM2951590 c.992delA p.N331fs*42 Deletion - Frameshift 4:10084490-10084490 - TCGA-AD-6889-01 COSM1431892 c.1222G>A p.V408I Substitution - Missense 4:10081419-10081419 - TCGA-AX-A05Z-01 COSM1049491 c.519C>A p.F173L Substitution - Missense 4:10097750-10097750 - CHC1598T COSM4788978 c.1001+1G>A p.? Unknown 4:10084480-10084480 - TCGA-FJ-A3ZE-01 COSM3775440 c.1104G>T p.V368V Substitution - coding silent 4:10083114-10083114 - CHC437T COSM4958038 c.891G>T p.L297L Substitution - coding silent 4:10087767-10087767 - pfg068T COSM4749814 c.565A>G p.S189G Substitution - Missense 4:10088735-10088735 - TCGA-B5-A11E-01 COSM180414 c.200C>T p.A67V Substitution - Missense 4:10103925-10103925 - H23 COSM376811 c.1133G>T p.G378V Substitution - Missense 4:10083088-10083088 - HCA7 COSM1431889 c.1588delT p.Y530fs*26 Deletion - Frameshift 4:10077433-10077433 - ESCC_33 COSM5628318 c.1039+3A>G p.? Unknown 4:10084440-10084440 - TCGA-D1-A167-01 COSM1049479 c.1131G>A p.S377S Substitution - coding silent 4:10083090-10083090 - LUAD-E00934 COSM393639 c.1383G>T p.V461V Substitution - coding silent 4:10078906-10078906 - Gp5D COSM2951589 c.992delA p.N331fs*41 Deletion - Frameshift 4:10084490-10084490 - LUAD-D01751 COSM338328 c.1269C>T p.V423V Substitution - coding silent 4:10081372-10081372 - TCGA-HU-A4H8-01 COSM4120976 c.1237G>A p.V413I Substitution - Missense 4:10081404-10081404 - TC32 COSM420263 c.1248C>T p.V416V Substitution - coding silent 4:10081396-10081396 - ACINAR28 COSM1735654 c.964T>C p.S322P Substitution - Missense 4:10084518-10084518 - 2318496 COSM4777308 c.715G>T p.A239S Substitution - Missense 4:10088295-10088295 - TCGA-C5-A1BK-01 COSM4826292 c.1215G>T p.V405V Substitution - coding silent 4:10081429-10081429 - RK308_C01 COSM3767619 c.882T>C p.S294S Substitution - coding silent 4:10087776-10087776 - ESO-859 COSM1240641 c.965C>T p.S322L Substitution - Missense 4:10084517-10084517 - TCGA-BR-A4QL-01 COSM2951546 c.1368C>T p.P456P Substitution - coding silent 4:10078921-10078921 - PT52 COSM5915354 c.817C>T p.P273S Substitution - Missense 4:10087841-10087841 - pfg022T COSM4749812 c.1187G>A p.R396Q Substitution - Missense 4:10083031-10083031 - SNU-175 COSM2951613 c.568C>T p.R190C Substitution - Missense 4:10088732-10088732 - TCGA-A4-A4ZT-01 COSM3993373 c.555T>C p.I185I Substitution - coding silent 4:10097714-10097714 - TCGA-F4-6856-01 COSM1431910 c.172G>A p.A58T Substitution - Missense 4:10103953-10103953 - LUAD-E00934 COSM393638 c.1380G>T p.V460V Substitution - coding silent 4:10078906-10078906 - TCGA-CF-A27C-01 COSM1309568 c.303C>T p.F101F Substitution - coding silent 4:10099066-10099066 - pfg068T COSM4749815 c.565A>G p.S189G Substitution - Missense 4:10088735-10088735 - TCGA-34-2608-01 COSM732126 c.1345G>T p.E449* Substitution - Nonsense 4:10078941-10078941 - TCGA-AP-A051-01 COSM1049476 c.1206delA p.G403fs*3 Deletion - Frameshift 4:10081438-10081438 - CHC1598T COSM4788977 c.1002G>A p.K334K Substitution - coding silent 4:10084480-10084480 - C058 COSM5525822 c.105C>T p.T35T Substitution - coding silent 4:10116146-10116146 - TCGA-HU-A4H8-01 COSM4120977 c.1240G>A p.V414I Substitution - Missense 4:10081404-10081404 - TCGA-BC-A5W4-01 COSM4911576 c.1743C>T p.S581S Substitution - coding silent 4:10075456-10075456 - TCGA-FI-A2D2-01 COSM1049481 c.1062G>A p.T354T Substitution - coding silent 4:10083159-10083159 - 92 COSM5014411 c.1585T>C p.Y529H Substitution - Missense 4:10077433-10077433 - sysucc-834T COSM5486391 c.1402G>T p.G468C Substitution - Missense 4:10077923-10077923 - EGC3 COSM5060026 c.1066delG p.E356fs*17 Deletion - Frameshift 4:10083155-10083155 - TCGA-CM-5861-01 COSM1431890 c.1486G>A p.A496T Substitution - Missense 4:10077836-10077836 - C058 COSM5525821 c.105C>T p.T35T Substitution - coding silent 4:10116146-10116146 - LUAD-D01751 COSM338329 c.1272C>T p.V424V Substitution - coding silent 4:10081372-10081372 - OSCC-GB_00200111 COSM3714788 c.1507G>A p.A503T Substitution - Missense 4:10077818-10077818 - TC32 COSM420262 c.1245C>T p.V415V Substitution - coding silent 4:10081396-10081396 - CSCC-5-T COSM4479896 c.236C>T p.S79F Substitution - Missense 4:10099133-10099133 - sysucc-274T COSM5476486 c.586C>T p.R196* Substitution - Nonsense 4:10088714-10088714 - TCGA-FS-A4FD-06 COSM1240641 c.965C>T p.S322L Substitution - Missense 4:10084517-10084517 - T3503 COSM4740838 c.1236C>T p.C412C Substitution - coding silent 4:10081405-10081405 - OSCC-GB_00200111 COSM3714787 c.1504G>A p.A502T Substitution - Missense 4:10077818-10077818 - LUAD-S01413 COSM347275 c.985C>T p.H329Y Substitution - Missense 4:10084497-10084497 - 92 COSM5014412 c.1588T>C p.Y530H Substitution - Missense 4:10077433-10077433 - Patient5 COSM5731822 c.1504G>A p.G502S Substitution - Missense 4:10077821-10077821 - HCC116T COSM5807147 c.804G>T p.V268V Substitution - coding silent 4:10087854-10087854 - TARGET-20-PARZWH-09A-03D COSM5487568 c.1158C>T p.D386D Substitution - coding silent 4:10083063-10083063 - Gp5D COSM2951590 c.992delA p.N331fs*42 Deletion - Frameshift 4:10084490-10084490 - 1_RESISTANT COSM1720977 c.945C>T p.V315V Substitution - coding silent 4:10087713-10087713 - RK268_C01 COSM4945416 c.1732C>T p.H578Y Substitution - Missense 4:10075470-10075470 - TCGA-AZ-6598-01 COSM1431909 c.471C>T p.S157S Substitution - coding silent 4:10097798-10097798 - TCGA-AP-A051-01 COSM1049475 c.1203delA p.G402fs*3 Deletion - Frameshift 4:10081438-10081438 - 20T COSM3714788 c.1507G>A p.A503T Substitution - Missense 4:10077818-10077818 - TCGA-EE-A2GB-06 COSM3598661 c.229+1G>A p.? Unknown 4:10103895-10103895 - TCGA-GD-A3OS-01 COSM1309565 c.1479C>T p.T493T Substitution - coding silent 4:10077843-10077843 - TCGA-D1-A17A-01 COSM1049468 c.1480G>A p.D494N Substitution - Missense 4:10077842-10077842 - ccRCC-17 COSM1664982 c.1265T>A p.V422E Substitution - Missense 4:10081376-10081376 - TCGA-DK-A3WW-01 COSM3775438 c.1459G>A p.E487K Substitution - Missense 4:10077863-10077863 - TCGA-D9-A6EC-06 COSM4404880 c.1625C>T p.P542L Substitution - Missense 4:10077393-10077393 - 587284 COSM1232545 c.514G>A p.A172T Substitution - Missense 4:10097755-10097755 - TCGA-D8-A1JG-01 COSM1485556 c.1606G>C p.V536L Substitution - Missense 4:10077412-10077412 - RK268_C01 COSM4945415 c.1729C>T p.H577Y Substitution - Missense 4:10075470-10075470 - SC_9081 COSM5555462 c.1198G>A p.G400R Substitution - Missense 4:10081443-10081443 - TCGA-D8-A1JG-01 COSM1485557 c.1609G>C p.V537L Substitution - Missense 4:10077412-10077412 - CSCC-11-T COSM4467276 c.147C>T p.A49A Substitution - coding silent 4:10103978-10103978 - CHC1598T COSM4788977 c.1002G>A p.K334K Substitution - coding silent 4:10084480-10084480 - BD13T COSM5504944 c.27C>A p.F9L Substitution - Missense 4:10116224-10116224 - S02255 COSM5680781 c.1474G>T p.V492L Substitution - Missense 4:10077848-10077848 - 1_PRE-TREATMENT COSM1720977 c.945C>T p.V315V Substitution - coding silent 4:10087713-10087713 - 068T COSM1730502 c.1627G>T p.D543Y Substitution - Missense 4:10077391-10077391 - MO_1013 COSM5571704 c.183G>T p.V61V Substitution - coding silent 4:10103942-10103942 - TCGA-BS-A0UL-01 COSM1049489 c.677C>T p.A226V Substitution - Missense 4:10088333-10088333 - TARGET-20-PARZWH-09A-03D COSM5487567 c.1155C>T p.D385D Substitution - coding silent 4:10083063-10083063 - ESCC_142 COSM5643806 c.1615G>T p.A539S Substitution - Missense 4:10077403-10077403 - ESO-859 COSM1240642 c.965C>T p.S322L Substitution - Missense 4:10084517-10084517 - TCGA-FG-7643-01 COSM3974634 c.1794C>T p.A598A Substitution - coding silent 4:10075408-10075408 - TCGA-BD-A3EP-01 COSM4911721 c.411T>C p.S137S Substitution - coding silent 4:10097858-10097858 - TCGA-34-2608-01 COSM732127 c.1348G>T p.E450* Substitution - Nonsense 4:10078941-10078941 - BN38T COSM1618198 c.15C>G p.I5M Substitution - Missense 4:10116652-10116652 - CHC320T COSM4408497 c.138+9C>T p.? Unknown 4:10116104-10116104 - ESCC_142 COSM5643807 c.1618G>T p.A540S Substitution - Missense 4:10077403-10077403 - 1_RESISTANT COSM1720976 c.945C>T p.V315V Substitution - coding silent 4:10087713-10087713 - T3021 COSM4740836 c.1261G>A p.A421T Substitution - Missense 4:10081380-10081380 - HCC021T COSM5815723 c.813A>T p.T271T Substitution - coding silent 4:10087845-10087845 - CSCC-5-T COSM4479895 c.236C>T p.S79F Substitution - Missense 4:10099133-10099133 - pfg022T COSM4749813 c.1190G>A p.R397Q Substitution - Missense 4:10083031-10083031 - TCGA-AZ-6598-01 COSM1431908 c.471C>T p.S157S Substitution - coding silent 4:10097798-10097798 - TCGA-FW-A3R5-06 COSM3916870 c.1106C>T p.S369F Substitution - Missense 4:10083112-10083112 - TCGA-BC-A5W4-01 COSM4911577 c.1746C>T p.S582S Substitution - coding silent 4:10075456-10075456 - TCGA-FS-A4FD-06 COSM1240642 c.965C>T p.S322L Substitution - Missense 4:10084517-10084517 - TCGA-FW-A3R5-06 COSM3916868 c.1623C>T p.S541S Substitution - coding silent 4:10077395-10077395 - Patient5 COSM5731821 c.1501G>A p.G501S Substitution - Missense 4:10077821-10077821 - TCGA-EI-6882-01 COSM3427997 c.587G>A p.R196Q Substitution - Missense 4:10088713-10088713 - BN38T COSM1618199 c.15C>G p.I5M Substitution - Missense 4:10116652-10116652 - C058 COSM5525819 c.104C>T p.T35I Substitution - Missense 4:10116147-10116147 - HT115 COSM2951604 c.718A>G p.I240V Substitution - Missense 4:10087940-10087940 - TCGA-A6-6141-01 COSM1431894 c.1095G>A p.T365T Substitution - coding silent 4:10083123-10083123 - TCGA-EE-A2GB-06 COSM3598660 c.229+1G>A p.? Unknown 4:10103895-10103895 - HCC116T COSM5807148 c.804G>T p.V268V Substitution - coding silent 4:10087854-10087854 - TCGA-15-1444-01 COSM3408945 c.1368C>T p.G456G Substitution - coding silent 4:10078918-10078918 - ccRCC-17 COSM1664983 c.1268T>A p.V423E Substitution - Missense 4:10081376-10081376 - TCGA-FW-A3R5-06 COSM3916869 c.1626C>T p.S542S Substitution - coding silent 4:10077395-10077395 - TCGA-D1-A167-01 COSM1049478 c.1128G>A p.S376S Substitution - coding silent 4:10083090-10083090 - CHC892T COSM4961016 c.1402G>A p.G468S Substitution - Missense 4:10077923-10077923 - TCGA-FJ-A3ZE-01 COSM3775443 c.319G>T p.D107Y Substitution - Missense 4:10099050-10099050 - TCGA-AP-A0LM-01 COSM1049495 c.140A>G p.N47S Substitution - Missense 4:10103985-10103985 - TCGA-EB-A41A-01 COSM3598656 c.1073C>T p.S358F Substitution - Missense 4:10083145-10083145 - TCGA-BS-A0UL-01 COSM1049488 c.677C>T p.A226V Substitution - Missense 4:10088333-10088333 - TCGA-B5-A11E-01 COSM1049505 c.98T>C p.L33P Substitution - Missense 4:10116153-10116153 - RK308_C01 COSM3767620 c.882T>C p.S294S Substitution - coding silent 4:10087776-10087776 - S02255 COSM5680782 c.1477G>T p.V493L Substitution - Missense 4:10077848-10077848 - LUAD-NYU847 COSM376810 c.1130G>T p.G377V Substitution - Missense 4:10083088-10083088 - sysucc-834T COSM5486390 c.1399G>T p.G467C Substitution - Missense 4:10077923-10077923 - TCGA-EB-A3Y7-01 COSM3598650 c.1657G>A p.D553N Substitution - Missense 4:10077361-10077361 - S0080 COSM5883896 c.717+4A>C p.? Unknown 4:10088289-10088289 - CHC892T COSM4961016 c.1402G>A p.G468S Substitution - Missense 4:10077923-10077923 - 95 COSM5011259 c.199G>A p.A67T Substitution - Missense 4:10103926-10103926 - CHC320T COSM4408496 c.138+9C>T p.? Unknown 4:10116104-10116104 - TCGA-BS-A0UV-01 COSM1049487 c.852C>T p.G284G Substitution - coding silent 4:10087806-10087806 - HT115 COSM2951605 c.718A>G p.I240V Substitution - Missense 4:10087940-10087940 - CHC1598T COSM4788978 c.1001+1G>A p.? Unknown 4:10084480-10084480 - TCGA-EB-A41A-01 COSM3598657 c.1076C>T p.S359F Substitution - Missense 4:10083145-10083145 - T3503 COSM4740839 c.1239C>T p.C413C Substitution - coding silent 4:10081405-10081405 - TCGA-FJ-A3ZE-01 COSM3775441 c.1107G>T p.V369V Substitution - coding silent 4:10083114-10083114 - TCGA-13-1481-01 COSM4947690 c.1631A>G p.N544S Substitution - Missense 4:10077387-10077387 - TCGA-GD-A3OS-01 COSM1309566 c.1482C>T p.T494T Substitution - coding silent 4:10077843-10077843 - TCGA-B5-A11E-01 COSM1049494 c.200C>T p.A67V Substitution - Missense 4:10103925-10103925 - TCGA-AD-6889-01 COSM1431893 c.1225G>A p.V409I Substitution - Missense 4:10081419-10081419 - TCGA-D9-A6EC-06 COSM4404881 c.1628C>T p.P543L Substitution - Missense 4:10077393-10077393 - ATL031 COSM5708946 c.304G>T p.A102S Substitution - Missense 4:10099065-10099065 - TCGA-B5-A11E-01 COSM1049504 c.98T>C p.L33P Substitution - Missense 4:10116153-10116153 - TCGA-BD-A3EP-01 COSM4911720 c.411T>C p.S137S Substitution - coding silent 4:10097858-10097858 - PT52 COSM5915353 c.817C>T p.P273S Substitution - Missense 4:10087841-10087841 - 20T COSM3714787 c.1504G>A p.A502T Substitution - Missense 4:10077818-10077818 - TCGA-BR-A4QL-01 COSM2951545 c.1365C>T p.P455P Substitution - coding silent 4:10078921-10078921 - 2318496 COSM4777309 c.715G>T p.A239S Substitution - Missense 4:10088295-10088295 - CHC437T COSM4958039 c.891G>T p.L297L Substitution - coding silent 4:10087767-10087767 - TCGA-CM-5861-01 COSM1431891 c.1489G>A p.A497T Substitution - Missense 4:10077836-10077836 - TCGA-FI-A2D2-01 COSM1049480 c.1059G>A p.T353T Substitution - coding silent 4:10083159-10083159 - TCGA-C5-A1BK-01 COSM4826291 c.1212G>T p.V404V Substitution - coding silent 4:10081429-10081429 - TCGA-DK-A1AB-01 COSM420263 c.1248C>T p.V416V Substitution - coding silent 4:10081396-10081396 - 2296_T COSM3945818 c.966G>T p.S322S Substitution - coding silent 4:10084516-10084516 - PT36 COSM5915353 c.817C>T p.P273S Substitution - Missense 4:10087841-10087841 - TCGA-EB-A3Y7-01 COSM3598651 c.1660G>A p.D554N Substitution - Missense 4:10077361-10077361 - TCGA-F4-6856-01 COSM1431911 c.172G>A p.A58T Substitution - Missense 4:10103953-10103953 - 2296_T COSM3945817 c.966G>T p.S322S Substitution - coding silent 4:10084516-10084516 - Pa03C COSM87459 c.63G>C p.K21N Substitution - Missense 4:10116188-10116188 - PD6750a COSM1637716 c.352G>C p.A118P Substitution - Missense 4:10099017-10099017 - OSCC-GB_01070111 COSM4120977 c.1240G>A p.V414I Substitution - Missense 4:10081404-10081404 - CSCC-54-T COSM4447470 c.1039+5C>T p.? Unknown 4:10084438-10084438 - HCC021T COSM5815724 c.813A>T p.T271T Substitution - coding silent 4:10087845-10087845 - TCGA-AX-A05Z-01 COSM1049490 c.519C>A p.F173L Substitution - Missense 4:10097750-10097750 - sysucc-783T COSM5484657 c.1595A>G p.H532R Substitution - Missense 4:10077426-10077426 - SNUH_G10_S1 COSM4002877 c.553A>G p.I185V Substitution - Missense 4:10097716-10097716 - T3118 COSM1431888 c.1585delT p.Y529fs*26 Deletion - Frameshift 4:10077433-10077433 - TCGA-AP-A059-01 COSM1049492 c.305C>T p.A102V Substitution - Missense 4:10099064-10099064 - TCGA-E9-A3HO-01 COSM3824841 c.120C>A p.V40V Substitution - coding silent 4:10116131-10116131 - PD6750a COSM1637717 c.352G>C p.A118P Substitution - Missense 4:10099017-10099017 - PCSI_0476_Pa_P_526 COSM5031312 c.1018G>A p.G340R Substitution - Missense 4:10083203-10083203 - C058 COSM5525820 c.104C>T p.T35I Substitution - Missense 4:10116147-10116147 - HCT15 COSM2951610 c.594T>A p.S198S Substitution - coding silent 4:10088706-10088706 - LUAD-RT-S01831 COSM384442 c.1140C>T p.I380I Substitution - coding silent 4:10083078-10083078 - TCGA-A6-6141-01 COSM1431895 c.1098G>A p.T366T Substitution - coding silent 4:10083123-10083123 - TCGA-15-1444-01 COSM3408946 c.1371C>T p.G457G Substitution - coding silent 4:10078918-10078918 - HCT15 COSM2951611 c.594T>A p.S198S Substitution - coding silent 4:10088706-10088706 - TCGA-AP-A059-01 COSM1049493 c.305C>T p.A102V Substitution - Missense 4:10099064-10099064 - TCGA-CD-A4MG-01 COSM4120968 c.1345G>A p.E449K Substitution - Missense 4:10078941-10078941 - 068T COSM1730503 c.1630G>T p.D544Y Substitution - Missense 4:10077391-10077391 - H23 COSM376810 c.1130G>T p.G377V Substitution - Missense 4:10083088-10083088 - TCGA-DK-A1AB-01 COSM420262 c.1245C>T p.V415V Substitution - coding silent 4:10081396-10081396 - TCGA-FG-7643-01 COSM3974633 c.1791C>T p.A597A Substitution - coding silent 4:10075408-10075408 - TCGA-FJ-A3ZE-01 COSM3775442 c.319G>T p.D107Y Substitution - Missense 4:10099050-10099050 - TCGA-AM-5821-01 COSM3696367 c.1569G>A p.S523S Substitution - coding silent 4:10077753-10077753 - TCGA-A4-A4ZT-01 COSM3993372 c.555T>C p.I185I Substitution - coding silent 4:10097714-10097714 - SNUH_G10_S1 COSM4002878 c.553A>G p.I185V Substitution - Missense 4:10097716-10097716 - S0080 COSM5883897 c.717+4A>C p.? Unknown 4:10088289-10088289 - SC_9081 COSM5555463 c.1201G>A p.G401R Substitution - Missense 4:10081443-10081443 - LUAD-RT-S01831 COSM384443 c.1143C>T p.I381I Substitution - coding silent 4:10083078-10083078 - HCA7 COSM1431888 c.1585delT p.Y529fs*26 Deletion - Frameshift 4:10077433-10077433 - CHC892T COSM4961015 c.1399G>A p.G467S Substitution - Missense 4:10077923-10077923 - sysucc-274T COSM5476487 c.586C>T p.R196* Substitution - Nonsense 4:10088714-10088714 - CSCC-27-T COSM4470213 c.1647C>T p.S549S Substitution - coding silent 4:10077371-10077371 - PT36 COSM5915354 c.817C>T p.P273S Substitution - Missense 4:10087841-10087841 - BD13T COSM5504945 c.27C>A p.F9L Substitution - Missense 4:10116224-10116224 - TCGA-DK-A3WW-01 COSM3775439 c.1462G>A p.E488K Substitution - Missense 4:10077863-10077863 - TCGA-FS-A1ZA-06 COSM3598664 c.110G>A p.G37E Substitution - Missense 4:10116141-10116141 - LUAD-NYU847 COSM376811 c.1133G>T p.G378V Substitution - Missense 4:10083088-10083088 - SNU-175 COSM2951612 c.568C>T p.R190C Substitution - Missense 4:10088732-10088732 - 95 COSM5011258 c.199G>A p.A67T Substitution - Missense 4:10103926-10103926 - TCGA-13-1481-01 COSM86161 c.1634A>G p.N545S Substitution - Missense 4:10077387-10077387 - TCGA-CF-A27C-01 COSM1309567 c.303C>T p.F101F Substitution - coding silent 4:10099066-10099066 - 1_PRE-TREATMENT COSM1720976 c.945C>T p.V315V Substitution - coding silent 4:10087713-10087713 - TCGA-D1-A17A-01 COSM1049469 c.1483G>A p.D495N Substitution - Missense 4:10077842-10077842 - CSCC-11-T COSM4467275 c.147C>T p.A49A Substitution - coding silent 4:10103978-10103978 - MO_1013 COSM5571705 c.183G>T p.V61V Substitution - coding silent 4:10103942-10103942 - OSCC-GB_01070111 COSM4120976 c.1237G>A p.V413I Substitution - Missense 4:10081404-10081404 - CHC892T COSM4961015 c.1399G>A p.G467S Substitution - Missense 4:10077923-10077923 - TCGA-EI-6882-01 COSM3427998 c.587G>A p.R196Q Substitution - Missense 4:10088713-10088713 - 587284 COSM1232546 c.514G>A p.A172T Substitution - Missense 4:10097755-10097755 - TCGA-CD-A4MG-01 COSM4120969 c.1348G>A p.E450K Substitution - Missense 4:10078941-10078941 - CSCC-27-T COSM4470214 c.1650C>T p.S550S Substitution - coding silent 4:10077371-10077371 - DLD1 COSM3408945 c.1368C>T p.G456G Substitution - coding silent 4:10078918-10078918 - TCGA-AM-5821-01 COSM3696368 c.1572G>A p.S524S Substitution - coding silent 4:10077753-10077753 - UM-SCC-2 COSM4599425 c.1739G>A p.S580N Substitution - Missense 4:10075460-10075460 - TCGA-FS-A1ZE-06 COSM3598659 c.271G>A p.E91K Substitution - Missense 4:10099098-10099098 - CHC437T COSM4958039 c.891G>T p.L297L Substitution - coding silent 4:10087767-10087767 - TCGA-19-5954-01 COSM2951624 c.378G>A p.K126K Substitution - coding silent 4:10097891-10097891 - ATL031 COSM5708945 c.304G>T p.A102S Substitution - Missense 4:10099065-10099065 - T3021 COSM4740837 c.1264G>A p.A422T Substitution - Missense 4:10081380-10081380 - Gp2D COSM2951589 c.992delA p.N331fs*41 Deletion - Frameshift 4:10084490-10084490 - TCGA-FS-A1ZA-06 COSM3598663 c.110G>A p.G37E Substitution - Missense 4:10116141-10116141 - TCGA-AP-A0LM-01 COSM1049496 c.140A>G p.N47S Substitution - Missense 4:10103985-10103985 - EGC3 COSM5060025 c.1063delG p.E355fs*17 Deletion - Frameshift 4:10083155-10083155 - MO_1215 COSM5568252 c.1198A>G p.S400G Substitution - Missense 4:10083023-10083023 - DLD1 COSM3408946 c.1371C>T p.G457G Substitution - coding silent 4:10078918-10078918 - TCGA-13-0730-01 COSM86162 c.136G>A p.D46N Substitution - Missense 4:10116115-10116115 - TCGA-FW-A3R5-06 COSM3916871 c.1109C>T p.S370F Substitution - Missense 4:10083112-10083112 - TCGA-BS-A0UV-01 COSM1049486 c.852C>T p.G284G Substitution - coding silent 4:10087806-10087806 - TCGA-FS-A1ZE-06 COSM3598658 c.271G>A p.E91K Substitution - Missense 4:10099098-10099098 - CHC437T COSM4958038 c.891G>T p.L297L Substitution - coding silent 4:10087767-10087767 - TCGA-19-5954-01 COSM2951625 c.378G>A p.K126K Substitution - coding silent 4:10097891-10097891 - UM-SCC-2 COSM4599426 c.1742G>A p.S581N Substitution - Missense 4:10075460-10075460 - ACINAR28 COSM1735653 c.964T>C p.S322P Substitution - Missense 4:10084518-10084518 - TCGA-E9-A3HO-01 COSM3824842 c.120C>A p.V40V Substitution - coding silent 4:10116131-10116131 - T3118 COSM1431889 c.1588delT p.Y530fs*26 Deletion - Frameshift 4:10077433-10077433 - sysucc-783T COSM5484656 c.1592A>G p.H531R Substitution - Missense 4:10077426-10077426 - MO_1215 COSM5568251 c.1195A>G p.S399G Substitution - Missense 4:10083023-10083023 - LUAD-S01413 COSM347276 c.985C>T p.H329Y Substitution - Missense 4:10084497-10084497 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.128518;Hs.128527;Hs.128539;Hs.128548 4p16.1 604734 2463962|CGAP|BC000201|C/T|non-coding||2044|Validated; 2463962|CGAP|BC002489|C/T|non-coding||2036|Validated; 2463962|CGAP|BC030541|C/T|non-coding||1621|Validated; 2463964|CGAP|BC000201|A/C|non-coding||2800|Candidate; 2463964|CGAP|BC002489|A/C|non-coding||2792|Candidate; 2463965|CGAP|BC002489|G/T|non-coding||2815|Candidate; 2463966|CGAP|BC000201|A/T|non-coding||2471|Candidate; 2463966|CGAP|BC002489|A/T|non-coding||2463|Candidate; 2463977|CGAP|BC000201|A/G|non-coding||2246|Validated; 2463977|CGAP|BC002489|A/G|non-coding||2238|Validated; 1527388|dbSNP|BC000201|A/C|non-coding||2800|Validated; 1527388|dbSNP|BC002489|A/C|non-coding||2792|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F173V c.517T>G 4 10099376 BRCA A - Frameshift p.I301Tfs*26 c.902delT 4 10089380 RCCC C A Nonsense p.E449* c.1345G>T 4 10080565 LUSC CC - Frameshift p.G236Dfs*5 c.707_708delGG 4 10089926 PRAD C - Frameshift p.Y300Tfs*27 c.897delG 4 10089385 LUSC C G Missense p.V15L c.43G>C 4 10117832 LUAD C G Missense p.V536L c.1606G>C 4 10079036 BRCA C T Missense p.D46N c.136G>A 4 10117739 OV C T Missense p.D494N c.1480G>A 4 10079466 UCEC C T Missense p.E91K c.271G>A 4 10100722 CM C T Missense p.G37E c.110G>A 4 10117765 CM C T Missense p.V518I c.1552G>A 4 10079394 LUAD C T SpliceDonorSNV . c.229+1G>A 4 10105519 CM C T Synonymous p.K126K c.378G>A 4 10099515 GBM G A Missense p.A226V c.677C>T 4 10089957 UCEC G A Missense p.P178S c.532C>T 4 10099361 CM G A Missense p.P273S c.817C>T 4 10089465 CM G A Missense p.S322L c.965C>T 4 10086141 ESCA G A Synonymous p.A414A c.1242C>T 4 10083023 HNSC G A Synonymous p.A597A c.1791C>T 4 10077032 LGG G A Synonymous p.C170C c.510C>T 4 10099383 LUAD G A Synonymous p.F101F c.303C>T 4 10100690 BLCA G A Synonymous p.G456G c.1368C>T 4 10080542 GBM G A Synonymous p.T493T c.1479C>T 4 10079467 BLCA G A Synonymous p.V415V c.1245C>T 4 10083020 BLCA G C Missense p.K21N c.63G>C 4 10117812 PAAD - TCCCCC IntronicInsertion . c.1284+6_1284+7insGGGGAG 4 10082975 CLL T C Missense p.N544S c.1631A>G 4 10079011 OV - T Frameshift p.I346Nfs*2 c.1036dupA 4 10086070 GBM - TGCTCC MultiAAMissense p.H92delinsRSN c.274_275insGGAGCA 4 10100718 GBM