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 10 17730077 17730077 + Missense_Mutation SNP G G C TCGA-PA-A5YG-01A-11D-A29I-10 TCGA-PA-A5YG-10A-01D-A29L-10 g.chr10:17730077G>C c.349G>C c.(349-351)Gat>Cat p.D117H BLCA 10 17702518 17702518 + Missense_Mutation SNP C C G TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr10:17702518C>G c.96C>G c.(94-96)atC>atG p.I32M BLCA 10 17730072 17730072 + Nonsense_Mutation SNP G G A TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr10:17730072G>A c.344G>A c.(343-345)tGg>tAg p.W115* BLCA 10 17730073 17730073 + Nonsense_Mutation SNP G G A TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr10:17730073G>A c.345G>A c.(343-345)tgG>tgA p.W115* BLCA 10 17730077 17730077 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 g.chr10:17730077G>A c.349G>A c.(349-351)Gat>Aat p.D117N BLCA 10 17750829 17750829 + Missense_Mutation SNP A A T TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 g.chr10:17750829A>T c.1264A>T c.(1264-1266)Atg>Ttg p.M422L BLCA 10 17750927 17750927 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr10:17750927G>A c.1362G>A c.(1360-1362)caG>caA p.Q454Q BRCA 10 17686365 17686365 + Silent SNP C C T TCGA-D8-A1JD-01A-11D-A13L-09 TCGA-D8-A1JD-10A-01D-A13O-09 g.chr10:17686365C>T c.27C>T c.(25-27)ttC>ttT p.F9F BRCA 10 17702462 17702462 + Splice_Site SNP G G C TCGA-A2-A0CX-01A-21W-A019-09 TCGA-A2-A0CX-10A-01W-A021-09 g.chr10:17702462G>C c.e2-1 BRCA 10 17702520 17702520 + Missense_Mutation SNP G G A TCGA-AN-A0FV-01A-11W-A019-09 TCGA-AN-A0FV-10A-01W-A021-09 g.chr10:17702520G>A c.98G>A c.(97-99)tGt>tAt p.C33Y BRCA 10 17730056 17730056 + Missense_Mutation SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 g.chr10:17730056G>A c.328G>A c.(328-330)Gct>Act p.A110T BRCA 10 17756740 17756740 + Silent SNP T T C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr10:17756740T>C c.1584T>C c.(1582-1584)ccT>ccC p.P528P CESC 10 17738856 17738856 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr10:17738856G>A c.811G>A c.(811-813)Gaa>Aaa p.E271K CESC 10 17750872 17750872 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr10:17750872C>G c.1307C>G c.(1306-1308)tCt>tGt p.S436C COAD 10 17730080 17730080 + Missense_Mutation SNP G G A TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr10:17730080G>A c.352G>A c.(352-354)Gaa>Aaa p.E118K COAD 10 17747018 17747018 + Silent SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr10:17747018T>C c.1050T>C c.(1048-1050)atT>atC p.I350I COAD 10 17747702 17747702 + Missense_Mutation SNP C C A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr10:17747702C>A c.1171C>A c.(1171-1173)Cca>Aca p.P391T COAD 10 17756585 17756585 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr10:17756585G>A c.1429G>A c.(1429-1431)Gcg>Acg p.A477T COAD 10 17756587 17756587 + Silent SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr10:17756587G>A c.1431G>A c.(1429-1431)gcG>gcA p.A477A COADREAD 10 17730080 17730080 + Missense_Mutation SNP G G A TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr10:17730080G>A c.352G>A c.(352-354)Gaa>Aaa p.E118K COADREAD 10 17730082 17730082 + Silent SNP A A G TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr10:17730082A>G c.354A>G c.(352-354)gaA>gaG p.E118E COADREAD 10 17742200 17742200 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:17742200G>T c.834G>T c.(832-834)gaG>gaT p.E278D COADREAD 10 17747018 17747018 + Silent SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr10:17747018T>C c.1050T>C c.(1048-1050)atT>atC p.I350I COADREAD 10 17747702 17747702 + Missense_Mutation SNP C C A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr10:17747702C>A c.1171C>A c.(1171-1173)Cca>Aca p.P391T COADREAD 10 17756585 17756585 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr10:17756585G>A c.1429G>A c.(1429-1431)Gcg>Acg p.A477T COADREAD 10 17756587 17756587 + Silent SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr10:17756587G>A c.1431G>A c.(1429-1431)gcG>gcA p.A477A ESCA 10 17737170 17737170 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr10:17737170G>T c.658G>T c.(658-660)Gac>Tac p.D220Y ESCA 10 17746459 17746459 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr10:17746459G>T c.942G>T c.(940-942)ctG>ctT p.L314L ESCA 10 17750914 17750914 + Missense_Mutation SNP C C T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 g.chr10:17750914C>T c.1349C>T c.(1348-1350)gCc>gTc p.A450V GBM 10 17735226 17735226 + Silent SNP A A G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 g.chr10:17735226A>G c.450A>G c.(448-450)gcA>gcG p.A150A GBMLGG 10 17726892 17726892 + Missense_Mutation SNP A A G TCGA-TM-A7CA-01A-21D-A33T-08 TCGA-TM-A7CA-10A-01D-A33W-08 g.chr10:17726892A>G c.263A>G c.(262-264)gAt>gGt p.D88G GBMLGG 10 17735226 17735226 + Silent SNP A A G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 g.chr10:17735226A>G c.450A>G c.(448-450)gcA>gcG p.A150A GBMLGG 10 17756581 17756581 + Missense_Mutation SNP C C G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 g.chr10:17756581C>G c.1425C>G c.(1423-1425)agC>agG p.S475R HNSC 10 17730107 17730107 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr10:17730107C>G c.379C>G c.(379-381)Cta>Gta p.L127V HNSC 10 17737124 17737124 + Silent SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr10:17737124C>T c.612C>T c.(610-612)ctC>ctT p.L204L HNSC 10 17747604 17747604 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr10:17747604C>G c.1073C>G c.(1072-1074)tCa>tGa p.S358* KICH 10 17756602 17756603 + Frame_Shift_Ins INS - - C TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr10:17756602_17756603insC c.1446_1447insC c.(1447-1449)cctfs p.P483fs KICH 10 17756602 17756603 + In_Frame_Ins INS - - CCC TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chr10:17756602_17756603insCCC c.1446_1447insCCC c.(1447-1449)cct>CCCcct p.483_483P>PP KIPAN 10 17735224 17735225 + Missense_Mutation DNP GC GC AA TCGA-BQ-5889-01A-11D-1589-08 TCGA-BQ-5889-11A-01D-1589-08 g.chr10:17735224_17735225GC>AA c.448_449GC>AA c.(448-450)GCa>AAa p.A150K KIPAN 10 17737083 17737085 + In_Frame_Del DEL TCA TCA - TCGA-CJ-4639-01A-02D-1386-10 TCGA-CJ-4639-11A-01D-1251-10 g.chr10:17737083_17737085delTCA c.571_573delTCA c.(571-573)tcadel p.S191del KIPAN 10 17747670 17747670 + Missense_Mutation SNP T T A TCGA-BQ-5894-01A-11D-1589-08 TCGA-BQ-5894-11A-01D-1589-08 g.chr10:17747670T>A c.1139T>A c.(1138-1140)aTg>aAg p.M380K KIPAN 10 17750824 17750824 + Missense_Mutation SNP C C T TCGA-BP-5200-01A-01D-1429-08 TCGA-BP-5200-11A-01D-1429-08 g.chr10:17750824C>T c.1259C>T c.(1258-1260)gCg>gTg p.A420V KIPAN 10 17756602 17756603 + Frame_Shift_Ins INS - - C TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr10:17756602_17756603insC c.1446_1447insC c.(1447-1449)cctfs p.P483fs KIPAN 10 17756602 17756603 + In_Frame_Ins INS - - CCC TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chr10:17756602_17756603insCCC c.1446_1447insCCC c.(1447-1449)cct>CCCcct p.483_483P>PP KIRC 10 17737083 17737085 + In_Frame_Del DEL TCA TCA - TCGA-CJ-4639-01A-02D-1386-10 TCGA-CJ-4639-11A-01D-1251-10 g.chr10:17737083_17737085delTCA c.571_573delTCA c.(571-573)tcadel p.S191del KIRC 10 17750824 17750824 + Missense_Mutation SNP C C T TCGA-BP-5200-01A-01D-1429-08 TCGA-BP-5200-11A-01D-1429-08 g.chr10:17750824C>T c.1259C>T c.(1258-1260)gCg>gTg p.A420V KIRP 10 17735224 17735225 + Missense_Mutation DNP GC GC AA TCGA-BQ-5889-01A-11D-1589-08 TCGA-BQ-5889-11A-01D-1589-08 g.chr10:17735224_17735225GC>AA c.448_449GC>AA c.(448-450)GCa>AAa p.A150K KIRP 10 17747670 17747670 + Missense_Mutation SNP T T A TCGA-BQ-5894-01A-11D-1589-08 TCGA-BQ-5894-11A-01D-1589-08 g.chr10:17747670T>A c.1139T>A c.(1138-1140)aTg>aAg p.M380K LGG 10 17726892 17726892 + Missense_Mutation SNP A A G TCGA-TM-A7CA-01A-21D-A33T-08 TCGA-TM-A7CA-10A-01D-A33W-08 g.chr10:17726892A>G c.263A>G c.(262-264)gAt>gGt p.D88G LGG 10 17756581 17756581 + Missense_Mutation SNP C C G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 g.chr10:17756581C>G c.1425C>G c.(1423-1425)agC>agG p.S475R LIHC 10 17730065 17730065 + Missense_Mutation SNP G G A TCGA-CC-A3MC-01A-11D-A22F-10 TCGA-CC-A3MC-10A-01D-A22F-10 g.chr10:17730065G>A c.337G>A c.(337-339)Gtt>Att p.V113I LIHC 10 17747603 17747603 + Missense_Mutation SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr10:17747603T>C c.1072T>C c.(1072-1074)Tca>Cca p.S358P LUAD 10 17702489 17702489 + Missense_Mutation SNP G G C TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr10:17702489G>C c.67G>C c.(67-69)Gct>Cct p.A23P LUAD 10 17702528 17702528 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr10:17702528G>T c.106G>T c.(106-108)Gtt>Ttt p.V36F LUAD 10 17726723 17726723 + Missense_Mutation SNP C C A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr10:17726723C>A c.175C>A c.(175-177)Cct>Act p.P59T LUAD 10 17737165 17737165 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr10:17737165T>A c.653T>A c.(652-654)aTa>aAa p.I218K LUAD 10 17737166 17737166 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr10:17737166A>T c.654A>T c.(652-654)atA>atT p.I218I LUAD 10 17737220 17737220 + Missense_Mutation SNP T T G TCGA-55-1595-01A-01D-0969-08 TCGA-55-1595-11A-01D-0969-08 g.chr10:17737220T>G c.708T>G c.(706-708)atT>atG p.I236M LUAD 10 17737234 17737234 + Missense_Mutation SNP A A G TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr10:17737234A>G c.722A>G c.(721-723)gAt>gGt p.D241G LUAD 10 17746452 17746452 + Missense_Mutation SNP A A T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr10:17746452A>T c.935A>T c.(934-936)cAg>cTg p.Q312L LUAD 10 17746987 17746987 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 g.chr10:17746987G>T c.1019G>T c.(1018-1020)gGa>gTa p.G340V LUAD 10 17747010 17747010 + Missense_Mutation SNP G G A TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr10:17747010G>A c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K LUAD 10 17747606 17747606 + Missense_Mutation SNP G G A TCGA-49-4514-01A-21D-1855-08 TCGA-49-4514-11A-01D-1855-08 g.chr10:17747606G>A c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K LUAD 10 17750775 17750775 + Splice_Site SNP G G T TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr10:17750775G>T c.1210G>T c.(1210-1212)Gtg>Ttg p.V404L LUAD 10 17750819 17750819 + Silent SNP G G A TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr10:17750819G>A c.1254G>A c.(1252-1254)ggG>ggA p.G418G LUAD 10 17756752 17756752 + Silent SNP A A G TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr10:17756752A>G c.1596A>G c.(1594-1596)caA>caG p.Q532Q LUSC 10 17730044 17730044 + Nonsense_Mutation SNP G G T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr10:17730044G>T c.316G>T c.(316-318)Gaa>Taa p.E106* LUSC 10 17737147 17737147 + Missense_Mutation SNP G G T TCGA-63-5128-01A-01D-1441-08 TCGA-63-5128-10A-01D-1441-08 g.chr10:17737147G>T c.635G>T c.(634-636)gGc>gTc p.G212V LUSC 10 17742236 17742236 + Silent SNP A A T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr10:17742236A>T c.870A>T c.(868-870)gtA>gtT p.V290V LUSC 10 17746497 17746497 + Missense_Mutation SNP C C A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr10:17746497C>A c.980C>A c.(979-981)cCa>cAa p.P327Q OV 10 17730081 17730081 + Missense_Mutation SNP A A G TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 g.chr10:17730081A>G c.353A>G c.(352-354)gAa>gGa p.E118G OV 10 17746994 17746994 + Silent SNP C C T TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 g.chr10:17746994C>T c.1026C>T c.(1024-1026)ctC>ctT p.L342L PAAD 10 17730057 17730057 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr10:17730057C>T c.329C>T c.(328-330)gCt>gTt p.A110V PAAD 10 17746472 17746472 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chr10:17746472C>T c.955C>T c.(955-957)Ccc>Tcc p.P319S PAAD 10 17747711 17747711 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr10:17747711A>G c.1180A>G c.(1180-1182)Atg>Gtg p.M394V PAAD 10 17750861 17750861 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr10:17750861G>A c.1296G>A c.(1294-1296)ccG>ccA p.P432P PAAD 10 17756616 17756618 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 g.chr10:17756616_17756618delCTG c.1460_1462delCTG c.(1459-1464)actgct>act p.A491del READ 10 17730082 17730082 + Silent SNP A A G TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr10:17730082A>G c.354A>G c.(352-354)gaA>gaG p.E118E READ 10 17742200 17742200 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:17742200G>T c.834G>T c.(832-834)gaG>gaT p.E278D SARC 10 17738849 17738849 + Silent SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 g.chr10:17738849C>A c.804C>A c.(802-804)ctC>ctA p.L268L SARC 10 17747638 17747638 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr10:17747638C>T c.1107C>T c.(1105-1107)tcC>tcT p.S369S SKCM 10 17702529 17702529 + Missense_Mutation SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr10:17702529T>C c.107T>C c.(106-108)gTt>gCt p.V36A SKCM 10 17726680 17726680 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr10:17726680G>A c.132G>A c.(130-132)aaG>aaA p.K44K SKCM 10 17726866 17726866 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr10:17726866T>G c.237T>G c.(235-237)atT>atG p.I79M SKCM 10 17730032 17730032 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr10:17730032C>T c.304C>T c.(304-306)Cct>Tct p.P102S SKCM 10 17735273 17735273 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr10:17735273C>G c.497C>G c.(496-498)aCt>aGt p.T166S SKCM 10 17737055 17737058 + Frame_Shift_Del DEL GTTG GTTG - TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr10:17737055_17737058delGTTG c.543_546delGTTG c.(541-546)gagttgfs p.EL181fs SKCM 10 17737150 17737150 + Missense_Mutation SNP G G A TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr10:17737150G>A c.638G>A c.(637-639)cGa>cAa p.R213Q SKCM 10 17750894 17750894 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr10:17750894C>T c.1329C>T c.(1327-1329)gtC>gtT p.V443V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 10 17738778 17738778 single base substitution C T downstream_gene_variant BLCA-CN 10 17738778 17738778 single base substitution C T exon_variant BLCA-CN 10 17738778 17738778 single base substitution C T missense_variant P134S 400C>T BLCA-CN 10 17738778 17738778 single base substitution C T missense_variant P245S 733C>T BLCA-CN 10 17742252 17742252 single base substitution G A downstream_gene_variant BLCA-CN 10 17742252 17742252 single base substitution G A missense_variant E185K 553G>A BLCA-CN 10 17742252 17742252 single base substitution G A missense_variant E296K 886G>A BLCA-CN 10 17746944 17746944 single base substitution A G downstream_gene_variant BLCA-CN 10 17746944 17746944 single base substitution A G intron_variant BLCA-CN 10 17756762 17756762 single base substitution C T stop_gained Q425* 1273C>T BLCA-CN 10 17756762 17756762 single base substitution C T stop_gained Q536* 1606C>T BLCA-US 10 17750829 17750829 single base substitution A T missense_variant M311L 931A>T BLCA-US 10 17750829 17750829 single base substitution A T missense_variant M422L 1264A>T BOCA-FR 10 17743081 17743081 single base substitution G A downstream_gene_variant BOCA-FR 10 17743081 17743081 single base substitution G A intron_variant BOCA-FR 10 17759509 17759509 single base substitution C A downstream_gene_variant BRCA-EU 10 17681322 17681322 single base substitution C G upstream_gene_variant BRCA-EU 10 17681508 17681508 single base substitution G A upstream_gene_variant BRCA-EU 10 17683775 17683775 single base substitution C A upstream_gene_variant BRCA-EU 10 17684068 17684068 single base substitution G A upstream_gene_variant BRCA-EU 10 17684815 17684840 deletion of <=200bp TTGCAATTTTTTTCTTTTTTTGAGAC - upstream_gene_variant BRCA-EU 10 17685615 17685615 single base substitution C G upstream_gene_variant BRCA-EU 10 17685952 17685952 single base substitution G A upstream_gene_variant BRCA-EU 10 17686023 17686023 single base substitution A C upstream_gene_variant BRCA-EU 10 17686078 17686078 single base substitution G T upstream_gene_variant BRCA-EU 10 17686238 17686238 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 10 17686238 17686238 single base substitution C G upstream_gene_variant BRCA-EU 10 17686461 17686461 single base substitution C T intron_variant BRCA-EU 10 17686515 17686515 single base substitution C T intron_variant BRCA-EU 10 17687148 17687148 single base substitution G C intron_variant BRCA-EU 10 17688202 17688202 single base substitution G C intron_variant BRCA-EU 10 17688722 17688722 single base substitution C G intron_variant BRCA-EU 10 17688749 17688749 single base substitution A C intron_variant BRCA-EU 10 17689369 17689369 single base substitution C T intron_variant BRCA-EU 10 17691040 17691040 single base substitution C T intron_variant BRCA-EU 10 17691065 17691065 single base substitution A G intron_variant BRCA-EU 10 17691583 17691583 single base substitution C G intron_variant BRCA-EU 10 17691705 17691705 single base substitution C T intron_variant BRCA-EU 10 17692376 17692376 single base substitution C T intron_variant BRCA-EU 10 17693600 17693600 single base substitution C G intron_variant BRCA-EU 10 17695077 17695077 single base substitution G A intron_variant BRCA-EU 10 17695616 17695618 deletion of <=200bp ATC - intron_variant BRCA-EU 10 17697480 17697480 single base substitution G A intron_variant BRCA-EU 10 17697763 17697763 single base substitution C G intron_variant BRCA-EU 10 17698688 17698688 single base substitution G C intron_variant BRCA-EU 10 17701700 17701700 single base substitution G A intron_variant BRCA-EU 10 17702180 17702180 single base substitution A T intron_variant BRCA-EU 10 17702223 17702223 single base substitution C G intron_variant BRCA-EU 10 17703265 17703265 single base substitution G A intron_variant BRCA-EU 10 17704079 17704079 deletion of <=200bp T - intron_variant BRCA-EU 10 17704186 17704186 single base substitution T A intron_variant BRCA-EU 10 17704199 17704199 single base substitution T C intron_variant BRCA-EU 10 17704364 17704364 single base substitution C G intron_variant BRCA-EU 10 17704645 17704645 deletion of <=200bp A - intron_variant BRCA-EU 10 17705200 17705200 single base substitution C G intron_variant BRCA-EU 10 17708802 17708802 single base substitution G A intron_variant BRCA-EU 10 17709271 17709274 deletion of <=200bp GAAC - intron_variant BRCA-EU 10 17709500 17709500 single base substitution C T intron_variant BRCA-EU 10 17710702 17710702 single base substitution G C intron_variant BRCA-EU 10 17711126 17711126 single base substitution C T intron_variant BRCA-EU 10 17712764 17712764 single base substitution C T intron_variant BRCA-EU 10 17713488 17713488 single base substitution C G intron_variant BRCA-EU 10 17713805 17713805 single base substitution G T intron_variant BRCA-EU 10 17714023 17714023 single base substitution C G intron_variant BRCA-EU 10 17714480 17714480 deletion of <=200bp T - intron_variant BRCA-EU 10 17715129 17715129 single base substitution C G intron_variant BRCA-EU 10 17715414 17715414 deletion of <=200bp T - intron_variant BRCA-EU 10 17718218 17718218 single base substitution C T intron_variant BRCA-EU 10 17719616 17719616 single base substitution C G intron_variant BRCA-EU 10 17719723 17719723 single base substitution C G intron_variant BRCA-EU 10 17719914 17719914 single base substitution T A intron_variant BRCA-EU 10 17719960 17719960 single base substitution T C intron_variant BRCA-EU 10 17720449 17720449 single base substitution C G intron_variant BRCA-EU 10 17720704 17720704 single base substitution G A intron_variant BRCA-EU 10 17721606 17721606 single base substitution G C intron_variant BRCA-EU 10 17721654 17721654 single base substitution C T intron_variant BRCA-EU 10 17722489 17722489 single base substitution G A intron_variant BRCA-EU 10 17722489 17722489 single base substitution G A upstream_gene_variant BRCA-EU 10 17723332 17723332 deletion of <=200bp T - intron_variant BRCA-EU 10 17723332 17723332 deletion of <=200bp T - upstream_gene_variant BRCA-EU 10 17723437 17723437 single base substitution A G intron_variant BRCA-EU 10 17723437 17723437 single base substitution A G upstream_gene_variant BRCA-EU 10 17723901 17723901 single base substitution G A intron_variant BRCA-EU 10 17723901 17723901 single base substitution G A upstream_gene_variant BRCA-EU 10 17728176 17728176 single base substitution C G intron_variant BRCA-EU 10 17729284 17729284 single base substitution G A intron_variant BRCA-EU 10 17730213 17730213 single base substitution T C downstream_gene_variant BRCA-EU 10 17730213 17730213 single base substitution T C intron_variant BRCA-EU 10 17733409 17733409 single base substitution C G downstream_gene_variant BRCA-EU 10 17733409 17733409 single base substitution C G intron_variant BRCA-EU 10 17733409 17733409 single base substitution C G upstream_gene_variant BRCA-EU 10 17735569 17735569 insertion of <=200bp - T downstream_gene_variant BRCA-EU 10 17735569 17735569 insertion of <=200bp - T intron_variant BRCA-EU 10 17735569 17735569 insertion of <=200bp - T upstream_gene_variant BRCA-EU 10 17736050 17736050 deletion of <=200bp T - downstream_gene_variant BRCA-EU 10 17736050 17736050 deletion of <=200bp T - intron_variant BRCA-EU 10 17736050 17736050 deletion of <=200bp T - upstream_gene_variant BRCA-EU 10 17736812 17736812 single base substitution C A downstream_gene_variant BRCA-EU 10 17736812 17736812 single base substitution C A intron_variant BRCA-EU 10 17736812 17736812 single base substitution C A upstream_gene_variant BRCA-EU 10 17738519 17738519 insertion of <=200bp - T downstream_gene_variant BRCA-EU 10 17738519 17738519 insertion of <=200bp - T intron_variant BRCA-EU 10 17741489 17741489 single base substitution T C intron_variant BRCA-EU 10 17742212 17742212 single base substitution A G exon_variant BRCA-EU 10 17742212 17742212 single base substitution A G synonymous_variant V171V 513A>G BRCA-EU 10 17742212 17742212 single base substitution A G synonymous_variant V282V 846A>G BRCA-EU 10 17742472 17742472 single base substitution A G downstream_gene_variant BRCA-EU 10 17742472 17742472 single base substitution A G intron_variant BRCA-EU 10 17743927 17743927 single base substitution T C downstream_gene_variant BRCA-EU 10 17743927 17743927 single base substitution T C intron_variant BRCA-EU 10 17744551 17744551 single base substitution G C downstream_gene_variant BRCA-EU 10 17744551 17744551 single base substitution G C intron_variant BRCA-EU 10 17744576 17744576 single base substitution A C downstream_gene_variant BRCA-EU 10 17744576 17744576 single base substitution A C intron_variant BRCA-EU 10 17744736 17744736 single base substitution C A downstream_gene_variant BRCA-EU 10 17744736 17744736 single base substitution C A intron_variant BRCA-EU 10 17747624 17747624 single base substitution A G missense_variant M254V 760A>G BRCA-EU 10 17747624 17747624 single base substitution A G missense_variant M365V 1093A>G BRCA-EU 10 17748056 17748056 single base substitution C G intron_variant BRCA-EU 10 17750898 17750898 deletion of <=200bp C - frameshift_variant P334 BRCA-EU 10 17750898 17750898 deletion of <=200bp C - frameshift_variant P445 BRCA-EU 10 17754406 17754406 single base substitution A T intron_variant BRCA-EU 10 17756313 17756313 single base substitution C A intron_variant BRCA-EU 10 17757304 17757304 single base substitution C T 3_prime_UTR_variant BRCA-EU 10 17757304 17757304 single base substitution C T downstream_gene_variant BRCA-EU 10 17757380 17757380 single base substitution C T 3_prime_UTR_variant BRCA-EU 10 17757380 17757380 single base substitution C T downstream_gene_variant BRCA-EU 10 17757443 17757443 single base substitution C G 3_prime_UTR_variant BRCA-EU 10 17757443 17757443 single base substitution C G downstream_gene_variant BRCA-EU 10 17758334 17758334 single base substitution C G downstream_gene_variant BRCA-EU 10 17760239 17760239 single base substitution C G downstream_gene_variant BRCA-EU 10 17760310 17760310 single base substitution T C downstream_gene_variant BRCA-EU 10 17761697 17761697 single base substitution C A downstream_gene_variant BRCA-EU 10 17762113 17762113 single base substitution G A downstream_gene_variant BRCA-FR 10 17687750 17687750 single base substitution G A intron_variant BRCA-FR 10 17709500 17709500 single base substitution C T intron_variant BRCA-FR 10 17721654 17721654 single base substitution C T intron_variant BRCA-FR 10 17736812 17736812 single base substitution C A downstream_gene_variant BRCA-FR 10 17736812 17736812 single base substitution C A intron_variant BRCA-FR 10 17736812 17736812 single base substitution C A upstream_gene_variant BRCA-FR 10 17741489 17741489 single base substitution T C intron_variant BRCA-FR 10 17744736 17744736 single base substitution C A downstream_gene_variant BRCA-FR 10 17744736 17744736 single base substitution C A intron_variant BRCA-UK 10 17686078 17686078 single base substitution G T upstream_gene_variant BRCA-UK 10 17688749 17688749 single base substitution A C intron_variant BRCA-UK 10 17688842 17688842 single base substitution C T intron_variant BRCA-UK 10 17710702 17710702 single base substitution G C intron_variant BRCA-UK 10 17726694 17726694 single base substitution C G 3_prime_UTR_variant BRCA-UK 10 17726694 17726694 single base substitution C G intron_variant BRCA-UK 10 17726694 17726694 single base substitution C G missense_variant S49C 146C>G BRCA-UK 10 17726694 17726694 single base substitution C G upstream_gene_variant BRCA-UK 10 17744576 17744576 single base substitution A C downstream_gene_variant BRCA-UK 10 17744576 17744576 single base substitution A C intron_variant BRCA-UK 10 17754406 17754406 single base substitution A T intron_variant BRCA-UK 10 17757911 17757911 single base substitution C G 3_prime_UTR_variant BRCA-UK 10 17757911 17757911 single base substitution C G downstream_gene_variant BRCA-UK 10 17761697 17761697 single base substitution C A downstream_gene_variant BRCA-US 10 17686365 17686365 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 10 17686365 17686365 single base substitution C T exon_variant BRCA-US 10 17686365 17686365 single base substitution C T synonymous_variant F9F 27C>T BRCA-US 10 17702462 17702462 single base substitution G C intron_variant BRCA-US 10 17702462 17702462 single base substitution G C splice_acceptor_variant BRCA-US 10 17702520 17702520 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 10 17702520 17702520 single base substitution G A exon_variant BRCA-US 10 17702520 17702520 single base substitution G A intron_variant BRCA-US 10 17702520 17702520 single base substitution G A missense_variant C33Y 98G>A BRCA-US 10 17730056 17730056 single base substitution G A 3_prime_UTR_variant BRCA-US 10 17730056 17730056 single base substitution G A 5_prime_UTR_variant BRCA-US 10 17730056 17730056 single base substitution G A exon_variant BRCA-US 10 17730056 17730056 single base substitution G A missense_variant A110T 328G>A BRCA-US 10 17756740 17756740 single base substitution T C synonymous_variant P417P 1251T>C BRCA-US 10 17756740 17756740 single base substitution T C synonymous_variant P528P 1584T>C BTCA-JP 10 17726795 17726795 single base substitution A G exon_variant BTCA-JP 10 17726795 17726795 single base substitution A G intron_variant BTCA-JP 10 17747109 17747109 deletion of <=200bp A - downstream_gene_variant BTCA-JP 10 17747109 17747109 deletion of <=200bp A - intron_variant CESC-US 10 17738856 17738856 single base substitution G A downstream_gene_variant CESC-US 10 17738856 17738856 single base substitution G A exon_variant CESC-US 10 17738856 17738856 single base substitution G A missense_variant E160K 478G>A CESC-US 10 17738856 17738856 single base substitution G A missense_variant E271K 811G>A CESC-US 10 17750872 17750872 single base substitution C G missense_variant S325C 974C>G CESC-US 10 17750872 17750872 single base substitution C G missense_variant S436C 1307C>G CLLE-ES 10 17727018 17727018 single base substitution T A intron_variant CLLE-ES 10 17729866 17729866 single base substitution G A intron_variant COAD-US 10 17747018 17747018 single base substitution T C downstream_gene_variant COAD-US 10 17747018 17747018 single base substitution T C synonymous_variant I239I 717T>C COAD-US 10 17747018 17747018 single base substitution T C synonymous_variant I350I 1050T>C COAD-US 10 17756587 17756587 single base substitution G A synonymous_variant A366A 1098G>A COAD-US 10 17756587 17756587 single base substitution G A synonymous_variant A477A 1431G>A COAD-US 10 17756596 17756596 single base substitution T C synonymous_variant Y369Y 1107T>C COAD-US 10 17756596 17756596 single base substitution T C synonymous_variant Y480Y 1440T>C COCA-CN 10 17681422 17681422 single base substitution G T upstream_gene_variant COCA-CN 10 17684713 17684713 single base substitution A T upstream_gene_variant COCA-CN 10 17685051 17685051 single base substitution G A upstream_gene_variant COCA-CN 10 17698293 17698293 single base substitution A T intron_variant COCA-CN 10 17701873 17701873 single base substitution G C intron_variant COCA-CN 10 17706136 17706136 single base substitution C T intron_variant COCA-CN 10 17741044 17741044 single base substitution G A intron_variant COCA-CN 10 17742164 17742164 single base substitution A C intron_variant COCA-CN 10 17743646 17743646 single base substitution G A downstream_gene_variant COCA-CN 10 17743646 17743646 single base substitution G A intron_variant COCA-CN 10 17746357 17746357 single base substitution T A downstream_gene_variant COCA-CN 10 17746357 17746357 single base substitution T A intron_variant COCA-CN 10 17761646 17761646 single base substitution T C downstream_gene_variant EOPC-DE 10 17694684 17694684 single base substitution C T intron_variant EOPC-DE 10 17714665 17714665 single base substitution A C intron_variant EOPC-DE 10 17720733 17720733 single base substitution C G intron_variant EOPC-DE 10 17741295 17741295 single base substitution A G intron_variant ESAD-UK 10 17682991 17682991 insertion of <=200bp - T upstream_gene_variant ESAD-UK 10 17683774 17683774 single base substitution C A upstream_gene_variant ESAD-UK 10 17683879 17683879 single base substitution G C upstream_gene_variant ESAD-UK 10 17684237 17684237 single base substitution T C upstream_gene_variant ESAD-UK 10 17684749 17684749 single base substitution G T upstream_gene_variant ESAD-UK 10 17685893 17685893 single base substitution C T upstream_gene_variant ESAD-UK 10 17685910 17685910 single base substitution T A upstream_gene_variant ESAD-UK 10 17688884 17688885 deletion of <=200bp AC - intron_variant ESAD-UK 10 17689171 17689171 single base substitution T A intron_variant ESAD-UK 10 17689470 17689470 single base substitution C T intron_variant ESAD-UK 10 17689670 17689670 single base substitution G T intron_variant ESAD-UK 10 17689886 17689886 single base substitution T C intron_variant ESAD-UK 10 17691551 17691551 deletion of <=200bp T - intron_variant ESAD-UK 10 17691676 17691676 insertion of <=200bp - T intron_variant ESAD-UK 10 17694456 17694456 single base substitution C T intron_variant ESAD-UK 10 17696439 17696439 single base substitution T C intron_variant ESAD-UK 10 17697933 17697933 single base substitution T C intron_variant ESAD-UK 10 17698954 17698954 single base substitution C T intron_variant ESAD-UK 10 17700516 17700516 single base substitution G C intron_variant ESAD-UK 10 17703082 17703082 single base substitution A C intron_variant ESAD-UK 10 17703116 17703116 single base substitution G A intron_variant ESAD-UK 10 17708053 17708053 single base substitution T A intron_variant ESAD-UK 10 17709244 17709244 single base substitution G T intron_variant ESAD-UK 10 17710889 17710889 single base substitution T G intron_variant ESAD-UK 10 17711389 17711389 single base substitution A G intron_variant ESAD-UK 10 17711560 17711560 single base substitution G A intron_variant ESAD-UK 10 17712112 17712112 single base substitution A C intron_variant ESAD-UK 10 17712190 17712190 single base substitution C T intron_variant ESAD-UK 10 17712696 17712696 single base substitution C T intron_variant ESAD-UK 10 17715414 17715414 deletion of <=200bp T - intron_variant ESAD-UK 10 17716676 17716676 single base substitution G T intron_variant ESAD-UK 10 17717290 17717290 single base substitution G A intron_variant ESAD-UK 10 17717326 17717326 single base substitution A G intron_variant ESAD-UK 10 17719363 17719363 single base substitution C T intron_variant ESAD-UK 10 17720982 17720982 single base substitution T A intron_variant ESAD-UK 10 17721497 17721497 single base substitution C T intron_variant ESAD-UK 10 17724498 17724498 single base substitution C T intron_variant ESAD-UK 10 17724498 17724498 single base substitution C T upstream_gene_variant ESAD-UK 10 17725524 17725524 insertion of <=200bp - T intron_variant ESAD-UK 10 17725524 17725524 insertion of <=200bp - T upstream_gene_variant ESAD-UK 10 17726312 17726312 single base substitution A T intron_variant ESAD-UK 10 17726312 17726312 single base substitution A T upstream_gene_variant ESAD-UK 10 17727330 17727330 single base substitution C A intron_variant ESAD-UK 10 17733978 17733978 single base substitution G T downstream_gene_variant ESAD-UK 10 17733978 17733978 single base substitution G T intron_variant ESAD-UK 10 17733978 17733978 single base substitution G T upstream_gene_variant ESAD-UK 10 17735848 17735848 single base substitution G A downstream_gene_variant ESAD-UK 10 17735848 17735848 single base substitution G A intron_variant ESAD-UK 10 17735848 17735848 single base substitution G A upstream_gene_variant ESAD-UK 10 17736214 17736214 single base substitution G A downstream_gene_variant ESAD-UK 10 17736214 17736214 single base substitution G A intron_variant ESAD-UK 10 17736214 17736214 single base substitution G A upstream_gene_variant ESAD-UK 10 17736244 17736244 single base substitution T C downstream_gene_variant ESAD-UK 10 17736244 17736244 single base substitution T C intron_variant ESAD-UK 10 17736244 17736244 single base substitution T C upstream_gene_variant ESAD-UK 10 17736854 17736854 single base substitution T C downstream_gene_variant ESAD-UK 10 17736854 17736854 single base substitution T C intron_variant ESAD-UK 10 17736854 17736854 single base substitution T C upstream_gene_variant ESAD-UK 10 17739676 17739676 single base substitution T G downstream_gene_variant ESAD-UK 10 17739676 17739676 single base substitution T G intron_variant ESAD-UK 10 17740030 17740030 single base substitution G T downstream_gene_variant ESAD-UK 10 17740030 17740030 single base substitution G T intron_variant ESAD-UK 10 17740098 17740098 single base substitution A G downstream_gene_variant ESAD-UK 10 17740098 17740098 single base substitution A G intron_variant ESAD-UK 10 17742389 17742389 deletion of <=200bp T - downstream_gene_variant ESAD-UK 10 17742389 17742389 deletion of <=200bp T - intron_variant ESAD-UK 10 17742465 17742465 single base substitution G A downstream_gene_variant ESAD-UK 10 17742465 17742465 single base substitution G A intron_variant ESAD-UK 10 17744357 17744357 single base substitution A C downstream_gene_variant ESAD-UK 10 17744357 17744357 single base substitution A C intron_variant ESAD-UK 10 17745148 17745148 single base substitution C T downstream_gene_variant ESAD-UK 10 17745148 17745148 single base substitution C T intron_variant ESAD-UK 10 17745475 17745475 single base substitution C T downstream_gene_variant ESAD-UK 10 17745475 17745475 single base substitution C T intron_variant ESAD-UK 10 17745778 17745778 single base substitution C T downstream_gene_variant ESAD-UK 10 17745778 17745778 single base substitution C T intron_variant ESAD-UK 10 17746330 17746330 single base substitution A C downstream_gene_variant ESAD-UK 10 17746330 17746330 single base substitution A C intron_variant ESAD-UK 10 17747467 17747467 insertion of <=200bp - T intron_variant ESAD-UK 10 17750188 17750188 single base substitution G A intron_variant ESAD-UK 10 17752501 17752501 single base substitution G A intron_variant ESAD-UK 10 17754634 17754634 single base substitution G C intron_variant ESAD-UK 10 17754737 17754737 single base substitution T G intron_variant ESAD-UK 10 17755922 17755922 single base substitution C T intron_variant ESAD-UK 10 17757404 17757404 single base substitution G A 3_prime_UTR_variant ESAD-UK 10 17757404 17757404 single base substitution G A downstream_gene_variant ESAD-UK 10 17758272 17758272 single base substitution T C downstream_gene_variant ESAD-UK 10 17759404 17759404 single base substitution T G downstream_gene_variant ESAD-UK 10 17759552 17759552 single base substitution T A downstream_gene_variant ESCA-CN 10 17750879 17750879 single base substitution C T synonymous_variant L327L 981C>T ESCA-CN 10 17750879 17750879 single base substitution C T synonymous_variant L438L 1314C>T GBM-US 10 17735226 17735226 single base substitution A G 3_prime_UTR_variant GBM-US 10 17735226 17735226 single base substitution A G synonymous_variant A150A 450A>G GBM-US 10 17735226 17735226 single base substitution A G synonymous_variant A39A 117A>G GBM-US 10 17735226 17735226 single base substitution A G upstream_gene_variant KIRC-US 10 17737083 17737085 deletion of <=200bp TCA - downstream_gene_variant KIRC-US 10 17737083 17737085 deletion of <=200bp TCA - exon_variant KIRC-US 10 17737083 17737085 deletion of <=200bp TCA - inframe_deletion S191 KIRC-US 10 17737083 17737085 deletion of <=200bp TCA - inframe_deletion S80 KIRC-US 10 17750824 17750824 single base substitution C T missense_variant A309V 926C>T KIRC-US 10 17750824 17750824 single base substitution C T missense_variant A420V 1259C>T KIRP-US 10 17735224 17735224 single base substitution G A 3_prime_UTR_variant KIRP-US 10 17735224 17735224 single base substitution G A missense_variant A150T 448G>A KIRP-US 10 17735224 17735224 single base substitution G A missense_variant A39T 115G>A KIRP-US 10 17735224 17735224 single base substitution G A upstream_gene_variant KIRP-US 10 17735225 17735225 single base substitution C A 3_prime_UTR_variant KIRP-US 10 17735225 17735225 single base substitution C A missense_variant A150E 449C>A KIRP-US 10 17735225 17735225 single base substitution C A missense_variant A39E 116C>A KIRP-US 10 17735225 17735225 single base substitution C A upstream_gene_variant KIRP-US 10 17747670 17747670 single base substitution T A missense_variant M269K 806T>A KIRP-US 10 17747670 17747670 single base substitution T A missense_variant M380K 1139T>A LAML-KR 10 17746611 17746611 single base substitution A C downstream_gene_variant LAML-KR 10 17746611 17746611 single base substitution A C intron_variant LICA-FR 10 17703163 17703163 single base substitution A G intron_variant LICA-FR 10 17721802 17721802 single base substitution T G intron_variant LICA-FR 10 17721802 17721802 single base substitution T G upstream_gene_variant LICA-FR 10 17724711 17724711 single base substitution G T intron_variant LICA-FR 10 17724711 17724711 single base substitution G T upstream_gene_variant LICA-FR 10 17728378 17728378 deletion of <=200bp T - intron_variant LICA-FR 10 17747212 17747212 single base substitution G A downstream_gene_variant LICA-FR 10 17747212 17747212 single base substitution G A intron_variant LICA-FR 10 17750833 17750833 single base substitution G A missense_variant S312N 935G>A LICA-FR 10 17750833 17750833 single base substitution G A missense_variant S423N 1268G>A LICA-FR 10 17753988 17753988 single base substitution A G intron_variant LIHC-US 10 17730065 17730065 single base substitution G A 3_prime_UTR_variant LIHC-US 10 17730065 17730065 single base substitution G A exon_variant LIHC-US 10 17730065 17730065 single base substitution G A missense_variant V113I 337G>A LIHC-US 10 17730065 17730065 single base substitution G A missense_variant V2I 4G>A LINC-JP 10 17683895 17683895 deletion of <=200bp T - upstream_gene_variant LINC-JP 10 17685847 17685847 single base substitution C T upstream_gene_variant LINC-JP 10 17686160 17686160 single base substitution G T 5_prime_UTR_variant LINC-JP 10 17686160 17686160 single base substitution G T upstream_gene_variant LINC-JP 10 17686325 17686325 single base substitution G A 5_prime_UTR_variant LINC-JP 10 17692857 17692857 single base substitution G A intron_variant LINC-JP 10 17711878 17711878 single base substitution C T intron_variant LINC-JP 10 17712883 17712883 single base substitution A T intron_variant LINC-JP 10 17719449 17719449 single base substitution A C intron_variant LINC-JP 10 17742388 17742388 single base substitution A G downstream_gene_variant LINC-JP 10 17742388 17742388 single base substitution A G intron_variant LINC-JP 10 17742407 17742407 single base substitution A G downstream_gene_variant LINC-JP 10 17742407 17742407 single base substitution A G intron_variant LINC-JP 10 17743387 17743387 single base substitution A G downstream_gene_variant LINC-JP 10 17743387 17743387 single base substitution A G intron_variant LINC-JP 10 17746687 17746687 single base substitution C T downstream_gene_variant LINC-JP 10 17746687 17746687 single base substitution C T intron_variant LINC-JP 10 17747017 17747018 deletion of <=200bp TT - downstream_gene_variant LINC-JP 10 17747017 17747018 deletion of <=200bp TT - frameshift_variant I239 LINC-JP 10 17747017 17747018 deletion of <=200bp TT - frameshift_variant I350 LINC-JP 10 17747627 17747627 single base substitution G A missense_variant E255K 763G>A LINC-JP 10 17747627 17747627 single base substitution G A missense_variant E366K 1096G>A LIRI-JP 10 17681289 17681289 single base substitution C A upstream_gene_variant LIRI-JP 10 17681776 17681776 single base substitution T C upstream_gene_variant LIRI-JP 10 17682351 17682351 single base substitution T C upstream_gene_variant LIRI-JP 10 17684220 17684220 single base substitution G A upstream_gene_variant LIRI-JP 10 17685250 17685250 single base substitution G A upstream_gene_variant LIRI-JP 10 17686707 17686707 single base substitution C T intron_variant LIRI-JP 10 17687024 17687024 single base substitution A C intron_variant LIRI-JP 10 17691372 17691372 single base substitution A T intron_variant LIRI-JP 10 17692095 17692095 single base substitution G T intron_variant LIRI-JP 10 17694002 17694002 single base substitution G A intron_variant LIRI-JP 10 17694586 17694586 single base substitution G A intron_variant LIRI-JP 10 17695055 17695055 single base substitution A C intron_variant LIRI-JP 10 17695130 17695130 single base substitution A T intron_variant LIRI-JP 10 17696003 17696003 single base substitution G A intron_variant LIRI-JP 10 17696559 17696559 single base substitution T G intron_variant LIRI-JP 10 17696838 17696838 single base substitution C A intron_variant LIRI-JP 10 17698406 17698406 single base substitution T C intron_variant LIRI-JP 10 17699266 17699266 single base substitution A C intron_variant LIRI-JP 10 17703425 17703425 single base substitution C T intron_variant LIRI-JP 10 17706549 17706549 single base substitution A G intron_variant LIRI-JP 10 17706592 17706592 single base substitution G A intron_variant LIRI-JP 10 17707344 17707351 deletion of <=200bp TAAAAAGA - intron_variant LIRI-JP 10 17709653 17709653 single base substitution C T intron_variant LIRI-JP 10 17711222 17711222 single base substitution A G intron_variant LIRI-JP 10 17714292 17714292 single base substitution G T intron_variant LIRI-JP 10 17714614 17714614 single base substitution A G intron_variant LIRI-JP 10 17714738 17714738 single base substitution A G intron_variant LIRI-JP 10 17715375 17715375 single base substitution A G intron_variant LIRI-JP 10 17716078 17716078 single base substitution G A intron_variant LIRI-JP 10 17716414 17716414 single base substitution G T intron_variant LIRI-JP 10 17717228 17717228 single base substitution G A intron_variant LIRI-JP 10 17717734 17717734 single base substitution G A intron_variant LIRI-JP 10 17718930 17718930 single base substitution C G intron_variant LIRI-JP 10 17719893 17719893 single base substitution A G intron_variant LIRI-JP 10 17719977 17719978 deletion of <=200bp AT - intron_variant LIRI-JP 10 17720279 17720279 single base substitution A T intron_variant LIRI-JP 10 17720545 17720545 single base substitution G C intron_variant LIRI-JP 10 17721154 17721154 single base substitution A C intron_variant LIRI-JP 10 17721797 17721797 single base substitution A G intron_variant LIRI-JP 10 17721797 17721797 single base substitution A G upstream_gene_variant LIRI-JP 10 17721902 17721902 single base substitution T C intron_variant LIRI-JP 10 17721902 17721902 single base substitution T C upstream_gene_variant LIRI-JP 10 17722217 17722217 single base substitution A T intron_variant LIRI-JP 10 17722217 17722217 single base substitution A T upstream_gene_variant LIRI-JP 10 17723539 17723539 single base substitution A G intron_variant LIRI-JP 10 17723539 17723539 single base substitution A G upstream_gene_variant LIRI-JP 10 17723723 17723723 single base substitution C T intron_variant LIRI-JP 10 17723723 17723723 single base substitution C T upstream_gene_variant LIRI-JP 10 17724107 17724107 single base substitution T A intron_variant LIRI-JP 10 17724107 17724107 single base substitution T A upstream_gene_variant LIRI-JP 10 17724390 17724390 single base substitution A G intron_variant LIRI-JP 10 17724390 17724390 single base substitution A G upstream_gene_variant LIRI-JP 10 17725986 17725986 single base substitution C T intron_variant LIRI-JP 10 17725986 17725986 single base substitution C T upstream_gene_variant LIRI-JP 10 17727167 17727167 single base substitution C A intron_variant LIRI-JP 10 17727802 17727802 single base substitution A G intron_variant LIRI-JP 10 17728347 17728347 single base substitution A T intron_variant LIRI-JP 10 17728582 17728582 single base substitution A C intron_variant LIRI-JP 10 17729953 17729953 single base substitution A G intron_variant LIRI-JP 10 17730255 17730255 single base substitution C T downstream_gene_variant LIRI-JP 10 17730255 17730255 single base substitution C T intron_variant LIRI-JP 10 17731537 17731537 single base substitution C T downstream_gene_variant LIRI-JP 10 17731537 17731537 single base substitution C T intron_variant LIRI-JP 10 17732978 17732978 single base substitution T C downstream_gene_variant LIRI-JP 10 17732978 17732978 single base substitution T C intron_variant LIRI-JP 10 17732978 17732978 single base substitution T C upstream_gene_variant LIRI-JP 10 17736883 17736883 single base substitution T C downstream_gene_variant LIRI-JP 10 17736883 17736883 single base substitution T C intron_variant LIRI-JP 10 17736883 17736883 single base substitution T C upstream_gene_variant LIRI-JP 10 17741433 17741433 single base substitution A G intron_variant LIRI-JP 10 17742534 17742534 single base substitution A G downstream_gene_variant LIRI-JP 10 17742534 17742534 single base substitution A G intron_variant LIRI-JP 10 17742953 17742953 single base substitution T C downstream_gene_variant LIRI-JP 10 17742953 17742953 single base substitution T C intron_variant LIRI-JP 10 17743058 17743058 single base substitution C T downstream_gene_variant LIRI-JP 10 17743058 17743058 single base substitution C T intron_variant LIRI-JP 10 17743645 17743645 single base substitution C T downstream_gene_variant LIRI-JP 10 17743645 17743645 single base substitution C T intron_variant LIRI-JP 10 17746178 17746178 single base substitution A G downstream_gene_variant LIRI-JP 10 17746178 17746178 single base substitution A G intron_variant LIRI-JP 10 17746334 17746334 single base substitution A G downstream_gene_variant LIRI-JP 10 17746334 17746334 single base substitution A G intron_variant LIRI-JP 10 17748243 17748243 single base substitution G T intron_variant LIRI-JP 10 17748937 17748937 single base substitution C A intron_variant LIRI-JP 10 17749193 17749193 single base substitution G A intron_variant LIRI-JP 10 17749439 17749439 single base substitution A C intron_variant LIRI-JP 10 17749454 17749454 single base substitution A G intron_variant LIRI-JP 10 17749457 17749457 single base substitution T C intron_variant LIRI-JP 10 17751370 17751370 single base substitution T A intron_variant LIRI-JP 10 17751663 17751663 single base substitution C T intron_variant LIRI-JP 10 17751897 17751897 single base substitution A G intron_variant LIRI-JP 10 17756443 17756443 single base substitution G A intron_variant LIRI-JP 10 17757742 17757742 single base substitution A G 3_prime_UTR_variant LIRI-JP 10 17757742 17757742 single base substitution A G downstream_gene_variant LIRI-JP 10 17758083 17758083 single base substitution C T downstream_gene_variant LIRI-JP 10 17759889 17759889 single base substitution G A downstream_gene_variant LIRI-JP 10 17760858 17760858 single base substitution G T downstream_gene_variant LIRI-JP 10 17760922 17760922 single base substitution T C downstream_gene_variant LUSC-KR 10 17685251 17685251 single base substitution A T upstream_gene_variant LUSC-KR 10 17685922 17685922 single base substitution T C upstream_gene_variant LUSC-KR 10 17694959 17694959 single base substitution G A intron_variant LUSC-KR 10 17696752 17696752 single base substitution G T intron_variant LUSC-KR 10 17701506 17701506 single base substitution G T intron_variant LUSC-KR 10 17702756 17702756 single base substitution G A intron_variant LUSC-KR 10 17714999 17714999 single base substitution A T 3_prime_UTR_variant LUSC-KR 10 17714999 17714999 single base substitution A T intron_variant LUSC-KR 10 17720633 17720633 single base substitution A T intron_variant LUSC-KR 10 17726573 17726573 single base substitution A G intron_variant LUSC-KR 10 17726573 17726573 single base substitution A G upstream_gene_variant LUSC-KR 10 17728286 17728286 single base substitution A G intron_variant LUSC-KR 10 17729375 17729375 single base substitution C T intron_variant LUSC-KR 10 17730017 17730017 single base substitution A G intron_variant LUSC-KR 10 17730181 17730181 single base substitution G T downstream_gene_variant LUSC-KR 10 17730181 17730181 single base substitution G T intron_variant LUSC-KR 10 17730299 17730299 single base substitution G T downstream_gene_variant LUSC-KR 10 17730299 17730299 single base substitution G T intron_variant LUSC-KR 10 17733474 17733474 single base substitution G A downstream_gene_variant LUSC-KR 10 17733474 17733474 single base substitution G A intron_variant LUSC-KR 10 17733474 17733474 single base substitution G A upstream_gene_variant LUSC-KR 10 17734264 17734264 single base substitution G T downstream_gene_variant LUSC-KR 10 17734264 17734264 single base substitution G T intron_variant LUSC-KR 10 17734264 17734264 single base substitution G T upstream_gene_variant LUSC-KR 10 17742654 17742654 single base substitution A T downstream_gene_variant LUSC-KR 10 17742654 17742654 single base substitution A T intron_variant LUSC-KR 10 17745319 17745319 single base substitution A T downstream_gene_variant LUSC-KR 10 17745319 17745319 single base substitution A T intron_variant LUSC-KR 10 17749125 17749125 single base substitution C T intron_variant LUSC-KR 10 17750442 17750442 single base substitution C T intron_variant LUSC-KR 10 17757389 17757389 single base substitution T G 3_prime_UTR_variant LUSC-KR 10 17757389 17757389 single base substitution T G downstream_gene_variant LUSC-KR 10 17761520 17761520 single base substitution C T downstream_gene_variant LUSC-US 10 17730044 17730044 single base substitution G T 3_prime_UTR_variant LUSC-US 10 17730044 17730044 single base substitution G T 5_prime_UTR_variant LUSC-US 10 17730044 17730044 single base substitution G T exon_variant LUSC-US 10 17730044 17730044 single base substitution G T stop_gained E106* 316G>T LUSC-US 10 17737147 17737147 single base substitution G T downstream_gene_variant LUSC-US 10 17737147 17737147 single base substitution G T exon_variant LUSC-US 10 17737147 17737147 single base substitution G T missense_variant G101V 302G>T LUSC-US 10 17737147 17737147 single base substitution G T missense_variant G212V 635G>T LUSC-US 10 17742236 17742236 single base substitution A T downstream_gene_variant LUSC-US 10 17742236 17742236 single base substitution A T exon_variant LUSC-US 10 17742236 17742236 single base substitution A T synonymous_variant V179V 537A>T LUSC-US 10 17742236 17742236 single base substitution A T synonymous_variant V290V 870A>T LUSC-US 10 17746497 17746497 single base substitution C A downstream_gene_variant LUSC-US 10 17746497 17746497 single base substitution C A missense_variant P216Q 647C>A LUSC-US 10 17746497 17746497 single base substitution C A missense_variant P327Q 980C>A MALY-DE 10 17686594 17686594 single base substitution T C intron_variant MALY-DE 10 17687300 17687300 single base substitution A T intron_variant MALY-DE 10 17691607 17691607 single base substitution A T intron_variant MALY-DE 10 17692095 17692095 single base substitution G A intron_variant MALY-DE 10 17696657 17696657 single base substitution C T intron_variant MALY-DE 10 17702152 17702152 single base substitution T C intron_variant MALY-DE 10 17703820 17703820 single base substitution G C intron_variant MALY-DE 10 17707244 17707244 single base substitution A T intron_variant MALY-DE 10 17712414 17712414 single base substitution T A intron_variant MALY-DE 10 17712794 17712794 single base substitution C G intron_variant MALY-DE 10 17725665 17725665 single base substitution T A intron_variant MALY-DE 10 17725665 17725665 single base substitution T A upstream_gene_variant MALY-DE 10 17726159 17726159 single base substitution T G intron_variant MALY-DE 10 17726159 17726159 single base substitution T G upstream_gene_variant MALY-DE 10 17736679 17736679 single base substitution T A downstream_gene_variant MALY-DE 10 17736679 17736679 single base substitution T A intron_variant MALY-DE 10 17736679 17736679 single base substitution T A upstream_gene_variant MALY-DE 10 17740737 17740737 insertion of <=200bp - T intron_variant MALY-DE 10 17742044 17742044 single base substitution C T intron_variant MALY-DE 10 17754238 17754238 single base substitution T C intron_variant MALY-DE 10 17758177 17758177 single base substitution C T downstream_gene_variant MELA-AU 10 17681629 17681629 single base substitution C T upstream_gene_variant MELA-AU 10 17681864 17681864 single base substitution G A upstream_gene_variant MELA-AU 10 17682018 17682018 single base substitution T C upstream_gene_variant MELA-AU 10 17682347 17682347 single base substitution G A upstream_gene_variant MELA-AU 10 17682864 17682864 single base substitution G A upstream_gene_variant MELA-AU 10 17683376 17683376 single base substitution T C upstream_gene_variant MELA-AU 10 17683439 17683439 single base substitution T A upstream_gene_variant MELA-AU 10 17684612 17684612 single base substitution C T upstream_gene_variant MELA-AU 10 17684841 17684841 single base substitution G A upstream_gene_variant MELA-AU 10 17685154 17685154 single base substitution G A upstream_gene_variant MELA-AU 10 17685969 17685969 single base substitution G A upstream_gene_variant MELA-AU 10 17686066 17686066 single base substitution G A upstream_gene_variant MELA-AU 10 17686107 17686107 single base substitution C T upstream_gene_variant MELA-AU 10 17686824 17686824 single base substitution G A intron_variant MELA-AU 10 17687033 17687033 single base substitution G A intron_variant MELA-AU 10 17687089 17687089 single base substitution G A intron_variant MELA-AU 10 17687657 17687657 single base substitution C T intron_variant MELA-AU 10 17688114 17688114 single base substitution C T intron_variant MELA-AU 10 17688358 17688358 insertion of <=200bp - C intron_variant MELA-AU 10 17688817 17688817 single base substitution T C intron_variant MELA-AU 10 17689196 17689196 single base substitution G A intron_variant MELA-AU 10 17689784 17689784 single base substitution A C intron_variant MELA-AU 10 17689910 17689910 single base substitution C T intron_variant MELA-AU 10 17691389 17691389 single base substitution C T intron_variant MELA-AU 10 17691533 17691533 single base substitution T C intron_variant MELA-AU 10 17695140 17695140 single base substitution G A intron_variant MELA-AU 10 17695623 17695623 single base substitution C T intron_variant MELA-AU 10 17696815 17696815 single base substitution C T intron_variant MELA-AU 10 17697245 17697246 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 17698730 17698730 single base substitution G A intron_variant MELA-AU 10 17699358 17699358 single base substitution C T intron_variant MELA-AU 10 17699498 17699498 single base substitution C T intron_variant MELA-AU 10 17700136 17700136 single base substitution C T intron_variant MELA-AU 10 17700422 17700422 single base substitution T C intron_variant MELA-AU 10 17700548 17700548 single base substitution C T intron_variant MELA-AU 10 17701687 17701687 single base substitution C T intron_variant MELA-AU 10 17701693 17701693 single base substitution C T intron_variant MELA-AU 10 17702229 17702229 single base substitution C T intron_variant MELA-AU 10 17702617 17702617 single base substitution G A intron_variant MELA-AU 10 17703050 17703050 single base substitution C A intron_variant MELA-AU 10 17703908 17703908 single base substitution C T intron_variant MELA-AU 10 17704219 17704219 single base substitution C T intron_variant MELA-AU 10 17704404 17704404 single base substitution C T intron_variant MELA-AU 10 17704627 17704628 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 17705210 17705210 single base substitution C T intron_variant MELA-AU 10 17706681 17706681 single base substitution T G intron_variant MELA-AU 10 17707521 17707521 single base substitution T C intron_variant MELA-AU 10 17708167 17708167 single base substitution T C intron_variant MELA-AU 10 17708298 17708309 deletion of <=200bp TATGATAGTCAT - intron_variant MELA-AU 10 17708508 17708508 single base substitution C T intron_variant MELA-AU 10 17712037 17712037 single base substitution C T intron_variant MELA-AU 10 17712263 17712263 single base substitution C T intron_variant MELA-AU 10 17713820 17713820 single base substitution C T intron_variant MELA-AU 10 17715173 17715173 single base substitution C T intron_variant MELA-AU 10 17717178 17717178 single base substitution T A intron_variant MELA-AU 10 17717753 17717753 single base substitution T G intron_variant MELA-AU 10 17718050 17718050 single base substitution C T intron_variant MELA-AU 10 17718165 17718165 single base substitution G A intron_variant MELA-AU 10 17718544 17718544 single base substitution T C intron_variant MELA-AU 10 17719662 17719662 single base substitution A G intron_variant MELA-AU 10 17720579 17720579 single base substitution C T intron_variant MELA-AU 10 17721417 17721417 single base substitution C T intron_variant MELA-AU 10 17722734 17722734 single base substitution C T intron_variant MELA-AU 10 17722734 17722734 single base substitution C T upstream_gene_variant MELA-AU 10 17723112 17723112 single base substitution C T intron_variant MELA-AU 10 17723112 17723112 single base substitution C T upstream_gene_variant MELA-AU 10 17723302 17723302 single base substitution T G intron_variant MELA-AU 10 17723302 17723302 single base substitution T G upstream_gene_variant MELA-AU 10 17724418 17724418 single base substitution C T intron_variant MELA-AU 10 17724418 17724418 single base substitution C T upstream_gene_variant MELA-AU 10 17724822 17724822 single base substitution C T intron_variant MELA-AU 10 17724822 17724822 single base substitution C T upstream_gene_variant MELA-AU 10 17724903 17724903 single base substitution G A intron_variant MELA-AU 10 17724903 17724903 single base substitution G A upstream_gene_variant MELA-AU 10 17725744 17725744 single base substitution C T intron_variant MELA-AU 10 17725744 17725744 single base substitution C T upstream_gene_variant MELA-AU 10 17726141 17726141 single base substitution C A intron_variant MELA-AU 10 17726141 17726141 single base substitution C A upstream_gene_variant MELA-AU 10 17726714 17726714 single base substitution C T 3_prime_UTR_variant MELA-AU 10 17726714 17726714 single base substitution C T intron_variant MELA-AU 10 17726714 17726714 single base substitution C T missense_variant H56Y 166C>T MELA-AU 10 17726714 17726714 single base substitution C T upstream_gene_variant MELA-AU 10 17727266 17727267 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 17727472 17727472 single base substitution C T intron_variant MELA-AU 10 17727926 17727926 single base substitution T A intron_variant MELA-AU 10 17728702 17728702 single base substitution C T intron_variant MELA-AU 10 17729095 17729095 single base substitution C T intron_variant MELA-AU 10 17730250 17730250 single base substitution C T downstream_gene_variant MELA-AU 10 17730250 17730250 single base substitution C T intron_variant MELA-AU 10 17731137 17731137 single base substitution A G downstream_gene_variant MELA-AU 10 17731137 17731137 single base substitution A G intron_variant MELA-AU 10 17731282 17731282 single base substitution C T downstream_gene_variant MELA-AU 10 17731282 17731282 single base substitution C T intron_variant MELA-AU 10 17731913 17731913 single base substitution C T downstream_gene_variant MELA-AU 10 17731913 17731913 single base substitution C T intron_variant MELA-AU 10 17731925 17731925 single base substitution C T downstream_gene_variant MELA-AU 10 17731925 17731925 single base substitution C T intron_variant MELA-AU 10 17731925 17731925 single base substitution C T upstream_gene_variant MELA-AU 10 17732815 17732815 single base substitution A T downstream_gene_variant MELA-AU 10 17732815 17732815 single base substitution A T intron_variant MELA-AU 10 17732815 17732815 single base substitution A T upstream_gene_variant MELA-AU 10 17733265 17733265 single base substitution C T downstream_gene_variant MELA-AU 10 17733265 17733265 single base substitution C T intron_variant MELA-AU 10 17733265 17733265 single base substitution C T upstream_gene_variant MELA-AU 10 17734010 17734010 single base substitution C T downstream_gene_variant MELA-AU 10 17734010 17734010 single base substitution C T intron_variant MELA-AU 10 17734010 17734010 single base substitution C T upstream_gene_variant MELA-AU 10 17734455 17734455 single base substitution G C downstream_gene_variant MELA-AU 10 17734455 17734455 single base substitution G C intron_variant MELA-AU 10 17734455 17734455 single base substitution G C upstream_gene_variant MELA-AU 10 17735416 17735416 single base substitution C T downstream_gene_variant MELA-AU 10 17735416 17735416 single base substitution C T intron_variant MELA-AU 10 17735416 17735416 single base substitution C T upstream_gene_variant MELA-AU 10 17737117 17737117 single base substitution C T downstream_gene_variant MELA-AU 10 17737117 17737117 single base substitution C T exon_variant MELA-AU 10 17737117 17737117 single base substitution C T missense_variant S202F 605C>T MELA-AU 10 17737117 17737117 single base substitution C T missense_variant S91F 272C>T MELA-AU 10 17738058 17738058 single base substitution C T downstream_gene_variant MELA-AU 10 17738058 17738058 single base substitution C T intron_variant MELA-AU 10 17739217 17739217 single base substitution C T downstream_gene_variant MELA-AU 10 17739217 17739217 single base substitution C T intron_variant MELA-AU 10 17739550 17739551 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 10 17739550 17739551 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 17739848 17739848 single base substitution C T downstream_gene_variant MELA-AU 10 17739848 17739848 single base substitution C T intron_variant MELA-AU 10 17739933 17739933 single base substitution G A downstream_gene_variant MELA-AU 10 17739933 17739933 single base substitution G A intron_variant MELA-AU 10 17740330 17740330 single base substitution C T intron_variant MELA-AU 10 17740927 17740927 single base substitution C T intron_variant MELA-AU 10 17741551 17741551 single base substitution C T intron_variant MELA-AU 10 17741818 17741818 single base substitution A T intron_variant MELA-AU 10 17741820 17741820 single base substitution A G intron_variant MELA-AU 10 17742676 17742676 single base substitution C T downstream_gene_variant MELA-AU 10 17742676 17742676 single base substitution C T intron_variant MELA-AU 10 17742888 17742888 single base substitution C T downstream_gene_variant MELA-AU 10 17742888 17742888 single base substitution C T intron_variant MELA-AU 10 17744280 17744280 single base substitution C T downstream_gene_variant MELA-AU 10 17744280 17744280 single base substitution C T intron_variant MELA-AU 10 17744756 17744757 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 10 17744756 17744757 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 10 17744946 17744946 single base substitution C T downstream_gene_variant MELA-AU 10 17744946 17744946 single base substitution C T intron_variant MELA-AU 10 17745136 17745136 single base substitution A T downstream_gene_variant MELA-AU 10 17745136 17745136 single base substitution A T intron_variant MELA-AU 10 17745644 17745644 single base substitution C T downstream_gene_variant MELA-AU 10 17745644 17745644 single base substitution C T intron_variant MELA-AU 10 17746841 17746841 single base substitution T G downstream_gene_variant MELA-AU 10 17746841 17746841 single base substitution T G intron_variant MELA-AU 10 17747385 17747385 single base substitution T C intron_variant MELA-AU 10 17747388 17747388 single base substitution C T intron_variant MELA-AU 10 17748412 17748412 single base substitution C T intron_variant MELA-AU 10 17748413 17748413 single base substitution C T intron_variant MELA-AU 10 17749174 17749174 single base substitution C T intron_variant MELA-AU 10 17749931 17749932 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 17750758 17750758 single base substitution C A intron_variant MELA-AU 10 17750793 17750793 single base substitution C T missense_variant P299S 895C>T MELA-AU 10 17750793 17750793 single base substitution C T missense_variant P410S 1228C>T MELA-AU 10 17751094 17751094 single base substitution G A intron_variant MELA-AU 10 17752159 17752159 single base substitution C T intron_variant MELA-AU 10 17754236 17754236 single base substitution G A intron_variant MELA-AU 10 17754924 17754924 single base substitution T C intron_variant MELA-AU 10 17756147 17756147 single base substitution C T intron_variant MELA-AU 10 17757196 17757196 single base substitution G T 3_prime_UTR_variant MELA-AU 10 17759141 17759141 single base substitution C T downstream_gene_variant MELA-AU 10 17759690 17759690 single base substitution C T downstream_gene_variant MELA-AU 10 17759964 17759964 single base substitution C T downstream_gene_variant MELA-AU 10 17760219 17760219 single base substitution T C downstream_gene_variant MELA-AU 10 17760662 17760662 single base substitution T C downstream_gene_variant MELA-AU 10 17760663 17760664 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 10 17760926 17760926 single base substitution T A downstream_gene_variant MELA-AU 10 17760980 17760980 single base substitution C T downstream_gene_variant MELA-AU 10 17761912 17761912 single base substitution A G downstream_gene_variant MELA-AU 10 17762021 17762021 single base substitution C A downstream_gene_variant MELA-AU 10 17762197 17762197 single base substitution C T downstream_gene_variant ORCA-IN 10 17712002 17712002 single base substitution C T intron_variant ORCA-IN 10 17725642 17725642 single base substitution T C intron_variant ORCA-IN 10 17725642 17725642 single base substitution T C upstream_gene_variant ORCA-IN 10 17751355 17751355 single base substitution C T intron_variant ORCA-IN 10 17759443 17759443 single base substitution G C downstream_gene_variant OV-AU 10 17684908 17684908 single base substitution G A upstream_gene_variant OV-AU 10 17687624 17687624 single base substitution T C intron_variant OV-AU 10 17688018 17688018 single base substitution G C intron_variant OV-AU 10 17689283 17689283 single base substitution C T intron_variant OV-AU 10 17697991 17697991 single base substitution T C intron_variant OV-AU 10 17702525 17702525 deletion of <=200bp A - 5_prime_UTR_variant OV-AU 10 17702525 17702525 deletion of <=200bp A - exon_variant OV-AU 10 17702525 17702525 deletion of <=200bp A - frameshift_variant K35 OV-AU 10 17702525 17702525 deletion of <=200bp A - intron_variant OV-AU 10 17707314 17707314 single base substitution T C intron_variant OV-AU 10 17708543 17708543 single base substitution G A intron_variant OV-AU 10 17713937 17713937 single base substitution C T intron_variant OV-AU 10 17714259 17714259 single base substitution A G intron_variant OV-AU 10 17714764 17714764 single base substitution T C intron_variant OV-AU 10 17727765 17727765 single base substitution A T intron_variant OV-AU 10 17728582 17728582 single base substitution A G intron_variant OV-AU 10 17735597 17735597 single base substitution C T downstream_gene_variant OV-AU 10 17735597 17735597 single base substitution C T intron_variant OV-AU 10 17735597 17735597 single base substitution C T upstream_gene_variant OV-AU 10 17751009 17751009 single base substitution C A intron_variant OV-AU 10 17757192 17757192 single base substitution T A 3_prime_UTR_variant OV-US 10 17730081 17730081 single base substitution A G 3_prime_UTR_variant OV-US 10 17730081 17730081 single base substitution A G exon_variant OV-US 10 17730081 17730081 single base substitution A G missense_variant E118G 353A>G OV-US 10 17730081 17730081 single base substitution A G missense_variant E7G 20A>G PACA-AU 10 17681379 17681379 single base substitution A C upstream_gene_variant PACA-AU 10 17683215 17683215 single base substitution C A upstream_gene_variant PACA-AU 10 17689513 17689513 single base substitution T C intron_variant PACA-AU 10 17689792 17689792 single base substitution A T intron_variant PACA-AU 10 17692577 17692577 single base substitution G A intron_variant PACA-AU 10 17693655 17693655 insertion of <=200bp - T intron_variant PACA-AU 10 17698967 17698967 single base substitution G T intron_variant PACA-AU 10 17701607 17701607 single base substitution A G intron_variant PACA-AU 10 17707004 17707004 deletion of <=200bp T - intron_variant PACA-AU 10 17707878 17707878 single base substitution G A intron_variant PACA-AU 10 17709640 17709640 single base substitution G T intron_variant PACA-AU 10 17711962 17711962 single base substitution T C intron_variant PACA-AU 10 17715942 17715942 single base substitution A C intron_variant PACA-AU 10 17716934 17716934 single base substitution T G intron_variant PACA-AU 10 17718537 17718537 single base substitution C T intron_variant PACA-AU 10 17735391 17735391 single base substitution G T downstream_gene_variant PACA-AU 10 17735391 17735391 single base substitution G T intron_variant PACA-AU 10 17735391 17735391 single base substitution G T upstream_gene_variant PACA-AU 10 17740941 17740941 deletion of <=200bp T - intron_variant PACA-AU 10 17742726 17742726 single base substitution C A downstream_gene_variant PACA-AU 10 17742726 17742726 single base substitution C A intron_variant PACA-AU 10 17747109 17747109 single base substitution A T downstream_gene_variant PACA-AU 10 17747109 17747109 single base substitution A T intron_variant PACA-AU 10 17751565 17751565 insertion of <=200bp - T intron_variant PACA-AU 10 17755058 17755058 single base substitution G A intron_variant PACA-AU 10 17755867 17755867 single base substitution G T intron_variant PACA-AU 10 17760606 17760606 single base substitution G A downstream_gene_variant PACA-CA 10 17683540 17683540 single base substitution A T upstream_gene_variant PACA-CA 10 17692817 17692817 single base substitution C T intron_variant PACA-CA 10 17699773 17699773 single base substitution C A intron_variant PACA-CA 10 17700618 17700618 single base substitution T G intron_variant PACA-CA 10 17701530 17701530 single base substitution C T intron_variant PACA-CA 10 17702018 17702018 single base substitution T C intron_variant PACA-CA 10 17703267 17703267 single base substitution T C intron_variant PACA-CA 10 17707494 17707494 single base substitution T C intron_variant PACA-CA 10 17713246 17713246 deletion of <=200bp T - intron_variant PACA-CA 10 17720749 17720749 single base substitution C T intron_variant PACA-CA 10 17720876 17720876 insertion of <=200bp - T intron_variant PACA-CA 10 17723350 17723350 single base substitution T A intron_variant PACA-CA 10 17723350 17723350 single base substitution T A upstream_gene_variant PACA-CA 10 17727091 17727091 single base substitution G A intron_variant PACA-CA 10 17732183 17732183 single base substitution C T downstream_gene_variant PACA-CA 10 17732183 17732183 single base substitution C T intron_variant PACA-CA 10 17732183 17732183 single base substitution C T upstream_gene_variant PACA-CA 10 17740588 17740588 single base substitution C T intron_variant PACA-CA 10 17741078 17741078 single base substitution G A intron_variant PACA-CA 10 17741477 17741477 single base substitution T C intron_variant PACA-CA 10 17743688 17743688 single base substitution C A downstream_gene_variant PACA-CA 10 17743688 17743688 single base substitution C A intron_variant PACA-CA 10 17747714 17747714 single base substitution C G missense_variant Q284E 850C>G PACA-CA 10 17747714 17747714 single base substitution C G missense_variant Q395E 1183C>G PACA-CA 10 17749568 17749568 single base substitution T C intron_variant PACA-CA 10 17752424 17752424 single base substitution G A intron_variant PACA-CA 10 17756311 17756311 insertion of <=200bp - C intron_variant PACA-CA 10 17757482 17757482 single base substitution C G 3_prime_UTR_variant PACA-CA 10 17757482 17757482 single base substitution C G downstream_gene_variant PACA-CA 10 17759682 17759682 deletion of <=200bp C - downstream_gene_variant PACA-CA 10 17761517 17761517 single base substitution C T downstream_gene_variant PACA-CA 10 17762097 17762097 single base substitution C G downstream_gene_variant PAEN-AU 10 17696213 17696213 single base substitution G A intron_variant PAEN-AU 10 17724227 17724227 single base substitution G A intron_variant PAEN-AU 10 17724227 17724227 single base substitution G A upstream_gene_variant PAEN-AU 10 17728692 17728692 single base substitution A C intron_variant PAEN-AU 10 17760149 17760149 single base substitution T G downstream_gene_variant PAEN-IT 10 17739166 17739166 single base substitution G T downstream_gene_variant PAEN-IT 10 17739166 17739166 single base substitution G T intron_variant PAEN-IT 10 17753550 17753550 single base substitution A G intron_variant PBCA-DE 10 17682955 17682955 single base substitution A C upstream_gene_variant PBCA-DE 10 17684904 17684904 insertion of <=200bp - CC upstream_gene_variant PBCA-DE 10 17694247 17694247 insertion of <=200bp - A intron_variant PBCA-DE 10 17730628 17730628 deletion of <=200bp T - downstream_gene_variant PBCA-DE 10 17730628 17730628 deletion of <=200bp T - intron_variant PBCA-DE 10 17734184 17734184 single base substitution G T downstream_gene_variant PBCA-DE 10 17734184 17734184 single base substitution G T intron_variant PBCA-DE 10 17734184 17734184 single base substitution G T upstream_gene_variant PBCA-DE 10 17747108 17747108 single base substitution T A downstream_gene_variant PBCA-DE 10 17747108 17747108 single base substitution T A intron_variant PBCA-DE 10 17749390 17749390 single base substitution C T intron_variant PBCA-DE 10 17757388 17757389 deletion of <=200bp AT - 3_prime_UTR_variant PBCA-DE 10 17757388 17757389 deletion of <=200bp AT - downstream_gene_variant PRAD-CA 10 17719360 17719360 single base substitution A G intron_variant PRAD-CA 10 17744267 17744267 single base substitution G A downstream_gene_variant PRAD-CA 10 17744267 17744267 single base substitution G A intron_variant PRAD-CA 10 17749889 17749889 single base substitution T A intron_variant PRAD-CA 10 17759632 17759632 single base substitution G A downstream_gene_variant PRAD-UK 10 17683535 17683535 deletion of <=200bp T - upstream_gene_variant PRAD-UK 10 17688198 17688198 single base substitution C T intron_variant PRAD-UK 10 17713750 17713750 deletion of <=200bp T - intron_variant PRAD-UK 10 17728234 17728234 single base substitution G C intron_variant PRAD-UK 10 17729687 17729687 single base substitution C A intron_variant PRAD-UK 10 17731872 17731872 single base substitution A G downstream_gene_variant PRAD-UK 10 17731872 17731872 single base substitution A G intron_variant PRAD-UK 10 17738741 17738741 deletion of <=200bp T - downstream_gene_variant PRAD-UK 10 17738741 17738741 deletion of <=200bp T - intron_variant PRAD-UK 10 17739187 17739187 single base substitution C A downstream_gene_variant PRAD-UK 10 17739187 17739187 single base substitution C A intron_variant PRAD-UK 10 17745192 17745192 insertion of <=200bp - T downstream_gene_variant PRAD-UK 10 17745192 17745192 insertion of <=200bp - T intron_variant PRAD-UK 10 17755404 17755404 single base substitution A G intron_variant PRAD-UK 10 17762641 17762641 insertion of <=200bp - T downstream_gene_variant READ-US 10 17737158 17737158 single base substitution C T downstream_gene_variant READ-US 10 17737158 17737158 single base substitution C T exon_variant READ-US 10 17737158 17737158 single base substitution C T missense_variant R105C 313C>T READ-US 10 17737158 17737158 single base substitution C T missense_variant R216C 646C>T RECA-EU 10 17685463 17685463 single base substitution T G upstream_gene_variant RECA-EU 10 17685611 17685611 single base substitution G C upstream_gene_variant RECA-EU 10 17686602 17686602 single base substitution T A intron_variant RECA-EU 10 17686663 17686663 single base substitution A T intron_variant RECA-EU 10 17686770 17686770 single base substitution A T intron_variant RECA-EU 10 17689078 17689078 single base substitution C T intron_variant RECA-EU 10 17690858 17690858 single base substitution T A intron_variant RECA-EU 10 17698826 17698826 single base substitution A G intron_variant RECA-EU 10 17703219 17703219 single base substitution G A intron_variant RECA-EU 10 17707856 17707856 single base substitution A G intron_variant RECA-EU 10 17708611 17708611 single base substitution T C intron_variant RECA-EU 10 17713156 17713156 single base substitution C G intron_variant RECA-EU 10 17716906 17716906 single base substitution C A intron_variant RECA-EU 10 17721429 17721429 single base substitution G A intron_variant RECA-EU 10 17728996 17728996 single base substitution C T intron_variant RECA-EU 10 17730780 17730780 single base substitution T C downstream_gene_variant RECA-EU 10 17730780 17730780 single base substitution T C intron_variant RECA-EU 10 17740136 17740136 single base substitution A T downstream_gene_variant RECA-EU 10 17740136 17740136 single base substitution A T intron_variant RECA-EU 10 17748087 17748087 single base substitution A T intron_variant RECA-EU 10 17748088 17748088 single base substitution A C intron_variant RECA-EU 10 17748101 17748101 single base substitution A C intron_variant RECA-EU 10 17753968 17753968 single base substitution T A intron_variant SKCA-BR 10 17681816 17681816 single base substitution G T upstream_gene_variant SKCA-BR 10 17682178 17682178 single base substitution C T upstream_gene_variant SKCA-BR 10 17686982 17686982 single base substitution T G intron_variant SKCA-BR 10 17687830 17687830 single base substitution A G intron_variant SKCA-BR 10 17695884 17695884 single base substitution T G intron_variant SKCA-BR 10 17696001 17696001 single base substitution T C intron_variant SKCA-BR 10 17709774 17709774 single base substitution G A intron_variant SKCA-BR 10 17709799 17709799 single base substitution C T intron_variant SKCA-BR 10 17720984 17720984 single base substitution C G intron_variant SKCA-BR 10 17724474 17724474 insertion of <=200bp - AG intron_variant SKCA-BR 10 17724474 17724474 insertion of <=200bp - AG upstream_gene_variant SKCA-BR 10 17724554 17724554 single base substitution T C intron_variant SKCA-BR 10 17724554 17724554 single base substitution T C upstream_gene_variant SKCA-BR 10 17727420 17727420 single base substitution A G intron_variant SKCA-BR 10 17727662 17727662 single base substitution C G intron_variant SKCA-BR 10 17729499 17729499 insertion of <=200bp - CA intron_variant SKCA-BR 10 17735072 17735072 single base substitution C T downstream_gene_variant SKCA-BR 10 17735072 17735072 single base substitution C T intron_variant SKCA-BR 10 17735072 17735072 single base substitution C T upstream_gene_variant SKCA-BR 10 17739576 17739576 single base substitution C G downstream_gene_variant SKCA-BR 10 17739576 17739576 single base substitution C G intron_variant SKCA-BR 10 17739579 17739579 single base substitution A T downstream_gene_variant SKCA-BR 10 17739579 17739579 single base substitution A T intron_variant SKCA-BR 10 17745025 17745027 deletion of <=200bp AAG - downstream_gene_variant SKCA-BR 10 17745025 17745027 deletion of <=200bp AAG - intron_variant SKCA-BR 10 17745083 17745083 single base substitution G A downstream_gene_variant SKCA-BR 10 17745083 17745083 single base substitution G A intron_variant SKCA-BR 10 17748369 17748369 single base substitution T C intron_variant SKCA-BR 10 17748578 17748578 single base substitution C T intron_variant SKCA-BR 10 17748579 17748579 single base substitution C T intron_variant SKCA-BR 10 17748953 17748953 single base substitution C T intron_variant SKCA-BR 10 17748987 17748987 single base substitution C T intron_variant SKCA-BR 10 17749363 17749363 single base substitution C T intron_variant SKCA-BR 10 17756958 17756958 single base substitution T C 3_prime_UTR_variant SKCA-BR 10 17761491 17761491 single base substitution T G downstream_gene_variant SKCA-BR 10 17762383 17762383 single base substitution G A downstream_gene_variant SKCM-US 10 17726680 17726680 single base substitution G A 3_prime_UTR_variant SKCM-US 10 17726680 17726680 single base substitution G A intron_variant SKCM-US 10 17726680 17726680 single base substitution G A synonymous_variant K44K 132G>A SKCM-US 10 17726680 17726680 single base substitution G A upstream_gene_variant SKCM-US 10 17726866 17726866 single base substitution T G 3_prime_UTR_variant SKCM-US 10 17726866 17726866 single base substitution T G exon_variant SKCM-US 10 17726866 17726866 single base substitution T G intron_variant SKCM-US 10 17726866 17726866 single base substitution T G missense_variant I79M 237T>G SKCM-US 10 17737055 17737058 deletion of <=200bp GTTG - downstream_gene_variant SKCM-US 10 17737055 17737058 deletion of <=200bp GTTG - exon_variant SKCM-US 10 17737055 17737058 deletion of <=200bp GTTG - frameshift_variant EL181 SKCM-US 10 17737055 17737058 deletion of <=200bp GTTG - frameshift_variant EL70 SKCM-US 10 17737150 17737150 single base substitution G A downstream_gene_variant SKCM-US 10 17737150 17737150 single base substitution G A exon_variant SKCM-US 10 17737150 17737150 single base substitution G A missense_variant R102Q 305G>A SKCM-US 10 17737150 17737150 single base substitution G A missense_variant R213Q 638G>A STAD-US 10 17730117 17730117 single base substitution C T 3_prime_UTR_variant STAD-US 10 17730117 17730117 single base substitution C T exon_variant STAD-US 10 17730117 17730117 single base substitution C T missense_variant A130V 389C>T STAD-US 10 17730117 17730117 single base substitution C T missense_variant A19V 56C>T STAD-US 10 17735260 17735260 single base substitution A C 3_prime_UTR_variant STAD-US 10 17735260 17735260 single base substitution A C missense_variant K162Q 484A>C STAD-US 10 17735260 17735260 single base substitution A C missense_variant K51Q 151A>C STAD-US 10 17735260 17735260 single base substitution A C upstream_gene_variant STAD-US 10 17735288 17735290 deletion of <=200bp AAG - downstream_gene_variant STAD-US 10 17735288 17735290 deletion of <=200bp AAG - inframe_deletion KE171K STAD-US 10 17735288 17735290 deletion of <=200bp AAG - inframe_deletion KE60K STAD-US 10 17735288 17735290 deletion of <=200bp AAG - upstream_gene_variant STAD-US 10 17742261 17742261 single base substitution C T downstream_gene_variant STAD-US 10 17742261 17742261 single base substitution C T missense_variant P188S 562C>T STAD-US 10 17742261 17742261 single base substitution C T missense_variant P299S 895C>T STAD-US 10 17742265 17742265 single base substitution C T downstream_gene_variant STAD-US 10 17742265 17742265 single base substitution C T missense_variant A189V 566C>T STAD-US 10 17742265 17742265 single base substitution C T missense_variant A300V 899C>T STAD-US 10 17747022 17747022 single base substitution A G downstream_gene_variant STAD-US 10 17747022 17747022 single base substitution A G missense_variant R241G 721A>G STAD-US 10 17747022 17747022 single base substitution A G missense_variant R352G 1054A>G STAD-US 10 17756586 17756586 single base substitution C T missense_variant A366V 1097C>T STAD-US 10 17756586 17756586 single base substitution C T missense_variant A477V 1430C>T UCEC-US 10 17726863 17726863 single base substitution A C 3_prime_UTR_variant UCEC-US 10 17726863 17726863 single base substitution A C exon_variant UCEC-US 10 17726863 17726863 single base substitution A C intron_variant UCEC-US 10 17726863 17726863 single base substitution A C missense_variant K78N 234A>C UCEC-US 10 17726891 17726891 single base substitution G T 3_prime_UTR_variant UCEC-US 10 17726891 17726891 single base substitution G T exon_variant UCEC-US 10 17726891 17726891 single base substitution G T intron_variant UCEC-US 10 17726891 17726891 single base substitution G T missense_variant D88Y 262G>T UCEC-US 10 17735262 17735262 single base substitution G T 3_prime_UTR_variant UCEC-US 10 17735262 17735262 single base substitution G T missense_variant K162N 486G>T UCEC-US 10 17735262 17735262 single base substitution G T missense_variant K51N 153G>T UCEC-US 10 17735262 17735262 single base substitution G T upstream_gene_variant UCEC-US 10 17737179 17737179 single base substitution G A downstream_gene_variant UCEC-US 10 17737179 17737179 single base substitution G A exon_variant UCEC-US 10 17737179 17737179 single base substitution G A missense_variant A112T 334G>A UCEC-US 10 17737179 17737179 single base substitution G A missense_variant A223T 667G>A UCEC-US 10 17737215 17737215 single base substitution G T downstream_gene_variant UCEC-US 10 17737215 17737215 single base substitution G T exon_variant UCEC-US 10 17737215 17737215 single base substitution G T stop_gained E124* 370G>T UCEC-US 10 17737215 17737215 single base substitution G T stop_gained E235* 703G>T UCEC-US 10 17746459 17746459 single base substitution G A downstream_gene_variant UCEC-US 10 17746459 17746459 single base substitution G A synonymous_variant L203L 609G>A UCEC-US 10 17746459 17746459 single base substitution G A synonymous_variant L314L 942G>A UCEC-US 10 17756549 17756549 single base substitution G A missense_variant V354I 1060G>A UCEC-US 10 17756549 17756549 single base substitution G A missense_variant V465I 1393G>A UCEC-US 10 17756640 17756640 single base substitution T C missense_variant V384A 1151T>C UCEC-US 10 17756640 17756640 single base substitution T C missense_variant V495A 1484T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-46-3765-01 COSM683710 c.316G>T p.E106* Substitution - Nonsense 10:17688045-17688045 + T464 COSM4730389 c.55G>A p.E19K Substitution - Missense 10:17660478-17660478 + CSCC-31-T COSM4519533 c.1014G>C p.Q338H Substitution - Missense 10:17704983-17704983 + TCGA-A2-A0T5-01 COSM3806876 c.1584T>C p.P528P Substitution - coding silent 10:17714741-17714741 + GC8_T COSM146897 c.1440T>C p.Y480Y Substitution - coding silent 10:17714597-17714597 + TCGA-DA-A1IA-06 COSM1702105 c.638G>A p.R213Q Substitution - Missense 10:17695151-17695151 + TCGA-D1-A176-01 COSM916856 c.286G>A p.V96I Substitution - Missense 10:17684916-17684916 + PD4956a COSM5798950 c.1093A>G p.M365V Substitution - Missense 10:17705625-17705625 + PD4130a COSM164632 c.146C>G p.S49C Substitution - Missense 10:17684695-17684695 + SNUH_G16_S1 COSM146897 c.1440T>C p.Y480Y Substitution - coding silent 10:17714597-17714597 + Pat_15_B COSM5836640 c.1460_1462delCTG p.A491delA Deletion - In frame 10:17714617-17714619 + LUAD-S01356 COSM397924 c.1507C>G p.P503A Substitution - Missense 10:17714664-17714664 + HCC4T COSM1603287 c.1096G>A p.E366K Substitution - Missense 10:17705628-17705628 + XHDG06 COSM4768446 c.556G>C p.E186Q Substitution - Missense 10:17695069-17695069 + 59 COSM5014896 c.595C>G p.P199A Substitution - Missense 10:17695108-17695108 + TCGA-AD-5900-01 COSM1347157 c.1050T>C p.I350I Substitution - coding silent 10:17705019-17705019 + CHC892T COSM4797511 c.1268G>A p.S423N Substitution - Missense 10:17708834-17708834 + TCGA-BQ-5889-01 COSM3985544 c.449C>A p.A150E Substitution - Missense 10:17693226-17693226 + TCGA-AN-A0FV-01 COSM427359 c.98G>A p.C33Y Substitution - Missense 10:17660521-17660521 + LUAD_E00522 COSM352293 c.110G>T p.G37V Substitution - Missense 10:17660533-17660533 + PD9004a COSM5801807 c.1333delC p.P445fs*69 Deletion - Frameshift 10:17708899-17708899 + WSU-HN13 COSM4601443 c.1277A>G p.Q426R Substitution - Missense 10:17708843-17708843 + TCGA-AX-A0J0-01 COSM916854 c.234A>C p.K78N Substitution - Missense 10:17684864-17684864 + TCGA-IR-A3LK-01 COSM4816826 c.811G>A p.E271K Substitution - Missense 10:17696857-17696857 + LUAD-S01315 COSM343829 c.1164G>A p.Q388Q Substitution - coding silent 10:17705696-17705696 + LUAD-S01315 COSM343828 c.1084G>T p.V362L Substitution - Missense 10:17705616-17705616 + B96 COSM1756719 c.1606C>T p.Q536* Substitution - Nonsense 10:17714763-17714763 + Single_Sample COSM4606400 c.1474A>C p.T492P Substitution - Missense 10:17714631-17714631 + ESCC_38 COSM5629024 c.45A>G p.K15K Substitution - coding silent 10:17660468-17660468 + TCGA-D1-A17B-01 COSM916858 c.667G>A p.A223T Substitution - Missense 10:17695180-17695180 + TCGA-D9-A6EC-06 COSM4406197 c.237T>G p.I79M Substitution - Missense 10:17684867-17684867 + TCGA-CC-A3MC-01 COSM4919526 c.337G>A p.V113I Substitution - Missense 10:17688066-17688066 + TCGA-JW-A5VL-01 COSM4846872 c.1307C>G p.S436C Substitution - Missense 10:17708873-17708873 + HCT15 COSM2132001 c.1374C>T p.A458A Substitution - coding silent 10:17708940-17708940 + TCGA-D1-A174-01 COSM916853 c.153G>A p.M51I Substitution - Missense 10:17684702-17684702 + TCGA-61-1740-01 COSM1321431 c.1026C>T p.L342L Substitution - coding silent 10:17704995-17704995 + B70-Tumor COSM1745729 c.733C>T p.P245S Substitution - Missense 10:17696779-17696779 + LUAD-F00365 COSM340323 c.519A>G p.E173E Substitution - coding silent 10:17693296-17693296 + PT48 COSM5932691 c.1225C>T p.P409S Substitution - Missense 10:17708791-17708791 + CSCC-46-T COSM1756719 c.1606C>T p.Q536* Substitution - Nonsense 10:17714763-17714763 + TCGA-BQ-5889-01 COSM3985543 c.448G>A p.A150T Substitution - Missense 10:17693225-17693225 + S02093 COSM5673048 c.1074A>C p.S358S Substitution - coding silent 10:17705606-17705606 + 1890203 COSM1236733 c.655T>C p.Y219H Substitution - Missense 10:17695168-17695168 + TCGA-13-1403-01 COSM76606 c.353A>G p.E118G Substitution - Missense 10:17688082-17688082 + TCGA-F5-6814-01 COSM2131989 c.646C>T p.R216C Substitution - Missense 10:17695159-17695159 + 3N38-VS-3T38 COSM4981298 c.782C>T p.S261F Substitution - Missense 10:17696828-17696828 + TCGA-JL-A3YW-01 COSM3806875 c.328G>A p.A110T Substitution - Missense 10:17688057-17688057 + PT52 COSM5940079 c.490C>T p.P164S Substitution - Missense 10:17693267-17693267 + TCGA-BR-4362-01 COSM916862 c.1430C>T p.A477V Substitution - Missense 10:17714587-17714587 + TCGA-D8-A1JD-01 COSM1474533 c.27C>T p.F9F Substitution - coding silent 10:17644366-17644366 + 423 COSM4432430 c.1258G>A p.A420T Substitution - Missense 10:17708824-17708824 + TCGA-A3-3351-01 COSM1134998 c.627A>C p.Q209H Substitution - Missense 10:17695140-17695140 + TCGA-CG-5717-01 COSM4013145 c.389C>T p.A130V Substitution - Missense 10:17688118-17688118 + LC_C27 COSM1187903 c.121A>T p.T41S Substitution - Missense 10:17660544-17660544 + B96-Tumor COSM1756719 c.1606C>T p.Q536* Substitution - Nonsense 10:17714763-17714763 + TCGA-GV-A40E-01 COSM3790670 c.1264A>T p.M422L Substitution - Missense 10:17708830-17708830 + WSU-HN8 COSM4602512 c.512_514delAAG p.E174delE Deletion - In frame 10:17693289-17693291 + ESCC-184T COSM3935009 c.1314C>T p.L438L Substitution - coding silent 10:17708880-17708880 + CSCC-37-T COSM2131989 c.646C>T p.R216C Substitution - Missense 10:17695159-17695159 + LUAD-VUMN6 COSM347779 c.867G>T p.Q289H Substitution - Missense 10:17700234-17700234 + HX13T COSM1603287 c.1096G>A p.E366K Substitution - Missense 10:17705628-17705628 + HT115 COSM2131986 c.547T>C p.S183P Substitution - Missense 10:17695060-17695060 + CHC892T COSM4797511 c.1268G>A p.S423N Substitution - Missense 10:17708834-17708834 + TCGA-A2-A0CX-01 COSM427358 c.41-1G>C p.? Unknown 10:17660463-17660463 + ME100L COSM231199 c.1106_1107CC>TA p.S369>? Complex 10:17705638-17705639 + ESCC_149 COSM5644769 c.94A>G p.I32V Substitution - Missense 10:17660517-17660517 + TCGA-18-3411-01 COSM683707 c.980C>A p.P327Q Substitution - Missense 10:17704498-17704498 + TCGA-22-1012-01 COSM683708 c.870A>T p.V290V Substitution - coding silent 10:17700237-17700237 + TCGA-AP-A0LM-01 COSM916863 c.1484T>C p.V495A Substitution - Missense 10:17714641-17714641 + 587342 COSM1227737 c.1072T>G p.S358A Substitution - Missense 10:17705604-17705604 + TCGA-AG-A002-01 COSM263885 c.834G>T p.E278D Substitution - Missense 10:17700201-17700201 + RKO COSM2132005 c.1583C>A p.P528H Substitution - Missense 10:17714740-17714740 + PT49 COSM5935644 c.536-4C>G p.? Unknown 10:17695045-17695045 + TCGA-AP-A0LM-01 COSM916859 c.703G>T p.E235* Substitution - Nonsense 10:17695216-17695216 + TCGA-AD-6895-01 COSM1347159 c.1431G>A p.A477A Substitution - coding silent 10:17714588-17714588 + J30_T COSM3978335 c.444+9G>T p.? Unknown 10:17688182-17688182 + 37 COSM3723727 c.652A>G p.I218V Substitution - Missense 10:17695165-17695165 + TCGA-D7-5577-01 COSM4013146 c.484A>C p.K162Q Substitution - Missense 10:17693261-17693261 + HT115 COSM2131978 c.194C>T p.A65V Substitution - Missense 10:17684743-17684743 + TCGA-63-5128-01 COSM683709 c.635G>T p.G212V Substitution - Missense 10:17695148-17695148 + TCGA-B5-A11E-01 COSM916860 c.942G>A p.L314L Substitution - coding silent 10:17704460-17704460 + ASHPC_0013_Pa_P COSM3786656 c.1183C>G p.Q395E Substitution - Missense 10:17705715-17705715 + TCGA-AP-A051-01 COSM916861 c.1393G>A p.V465I Substitution - Missense 10:17714550-17714550 + TCGA-BP-5200-01 COSM465517 c.1259C>T p.A420V Substitution - Missense 10:17708825-17708825 + 26 COSM5748684 c.1564G>A p.G522R Substitution - Missense 10:17714721-17714721 + TCGA-BR-4257-01 COSM4013149 c.1054A>G p.R352G Substitution - Missense 10:17705023-17705023 + TCGA-BQ-5894-01 COSM3985545 c.1139T>A p.M380K Substitution - Missense 10:17705671-17705671 + NCI-H322M COSM1675077 c.534A>T p.K178N Substitution - Missense 10:17693311-17693311 + HCT8 COSM2132001 c.1374C>T p.A458A Substitution - coding silent 10:17708940-17708940 + B70 COSM1745729 c.733C>T p.P245S Substitution - Missense 10:17696779-17696779 + PTC-53C COSM4144577 c.1449T>C p.P483P Substitution - coding silent 10:17714606-17714606 + DLD1 COSM2132001 c.1374C>T p.A458A Substitution - coding silent 10:17708940-17708940 + TCGA-EE-A2GC-06 COSM3436315 c.132G>A p.K44K Substitution - coding silent 10:17684681-17684681 + HN_62421 COSM129458 c.673G>A p.E225K Substitution - Missense 10:17695186-17695186 + B66 COSM1745730 c.886G>A p.E296K Substitution - Missense 10:17700253-17700253 + B66-Tumor COSM1745730 c.886G>A p.E296K Substitution - Missense 10:17700253-17700253 + CSCC-41-T COSM4559906 c.822G>T p.M274I Substitution - Missense 10:17696868-17696868 + ESCC_38 COSM5629025 c.1439A>G p.Y480C Substitution - Missense 10:17714596-17714596 + HCC4 COSM1603287 c.1096G>A p.E366K Substitution - Missense 10:17705628-17705628 + ESCC_149 COSM5644780 c.1418_1419insT p.P474fs*8 Insertion - Frameshift 10:17714575-17714576 + TCGA-02-2470-01 COSM2149072 c.450A>G p.A150A Substitution - coding silent 10:17693227-17693227 + ESCC-D5 COSM5046339 c.659A>G p.D220G Substitution - Missense 10:17695172-17695172 + LPJ108 COSM1316358 c.440C>A p.S147Y Substitution - Missense 10:17688169-17688169 + YUKRIN COSM1702105 c.638G>A p.R213Q Substitution - Missense 10:17695151-17695151 + SNUH_G45_S1 COSM146897 c.1440T>C p.Y480Y Substitution - coding silent 10:17714597-17714597 + Mx32 COSM32665 c.635G>A p.G212D Substitution - Missense 10:17695148-17695148 + TCGA-AP-A0LM-01 COSM916857 c.486G>T p.K162N Substitution - Missense 10:17693263-17693263 + TCGA-BS-A0UV-01 COSM916855 c.262G>T p.D88Y Substitution - Missense 10:17684892-17684892 + TCGA-HU-A4GQ-01 COSM4013147 c.895C>T p.P299S Substitution - Missense 10:17700262-17700262 + TCGA-A5-A0GA-01 COSM916862 c.1430C>T p.A477V Substitution - Missense 10:17714587-17714587 + LUAD-CHTN-MAD06-00668 COSM358401 c.1349C>T p.A450V Substitution - Missense 10:17708915-17708915 + PD6415a COSM5774701 c.846A>G p.V282V Substitution - coding silent 10:17700213-17700213 + TCGA-02-2470 COSM2149072 c.450A>G p.A150A Substitution - coding silent 10:17693227-17693227 + HCC49T COSM1603286 c.1049_1050delTT p.I350fs*2 Deletion - Frameshift 10:17705018-17705019 + SC_9104 COSM5548655 c.431C>G p.A144G Substitution - Missense 10:17688160-17688160 + TCGA-HU-A4H8-01 COSM4013148 c.899C>T p.A300V Substitution - Missense 10:17700266-17700266 + ESCC_156 COSM5645952 c.1564G>C p.G522R Substitution - Missense 10:17714721-17714721 + 6536 COSM1645028 c.158G>A p.R53K Substitution - Missense 10:17684707-17684707 + TCGA-AM-5821-01 COSM146897 c.1440T>C p.Y480Y Substitution - coding silent 10:17714597-17714597 + 188 COSM1741535 c.871G>C p.E291Q Substitution - Missense 10:17700238-17700238 + SNU-C2B COSM2131984 c.467G>A p.S156N Substitution - Missense 10:17693244-17693244 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.335362;Hs.335391 10p14-p13 601899 2472442|CGAP|BC030586|C/T|non-coding||1451|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K162Q c.484A>C 10 17735260 STAD A G 3-UTRSNV . c.1620+966A>G 10 17757742 HC A G Missense p.D241G c.722A>G 10 17737234 LUAD A G Missense p.E118G c.353A>G 10 17730081 OV A G Missense p.R352G c.1054A>G 10 17747022 STAD A G Synonymous p.A150A c.450A>G 10 17735226 GBM A T Synonymous p.V290V c.870A>T 10 17742236 LUSC C A Missense p.P327Q c.980C>A 10 17746497 LUSC CC TA Missense p.S369L c.1106_1107delinsTA 10 17747637 CM C G Missense p.L127V c.379C>G 10 17730107 HNSC C G Missense p.S49C c.146C>G 10 17726694 BRCA C G Missense p.T166S c.497C>G 10 17735273 CM C G Nonsense p.S86* c.257C>G 10 17726886 LUAD C T Missense p.A130V c.389C>T 10 17730117 STAD C T Missense p.A420V c.1259C>T 10 17750824 RCCC C T Missense p.L438F c.1312C>T 10 17750877 LUAD C T Missense p.P260S c.778C>T 10 17738823 CM C T Synonymous p.F9F c.27C>T 10 17686365 BRCA C T Synonymous p.L204L c.612C>T 10 17737124 HNSC C T Synonymous p.S382S c.1146C>T 10 17747677 CM G A IntronicSNV . c.298-160G>A 10 17729866 CLL G A Missense p.A223T c.667G>A 10 17737179 UCEC G A Missense p.C33Y c.98G>A 10 17702520 BRCA G A Missense p.E225K c.673G>A 10 17737185 HNSC G A Missense p.E359K c.1075G>A 10 17747606 LUAD G A Missense p.G212D c.635G>A 10 17737147 COREAD G A Missense p.R213Q c.638G>A 10 17737150 CM G A Synonymous p.K44K c.132G>A 10 17726680 CM G C Missense p.A23P c.67G>C 10 17702489 LUAD G C Missense p.G502R c.1504G>C 10 17756660 CM G C SpliceAcceptorSNV . c.41-1G>C 10 17702462 BRCA G T Missense p.G212V c.635G>T 10 17737147 LUSC G T Nonsense p.E106* c.316G>T 10 17730044 LUSC G T Synonymous p.P379P c.1137G>T 10 17747668 LUAD TA AT Missense p.I218N c.653_654delinsAT 10 17737165 LUAD TCA - InFrameDeletion p.S191delS c.571_573delTCA 10 17737083 RCCC T G Missense p.I236M c.708T>G 10 17737220 LUAD