Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 45472633 45472633 + Silent SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:45472633G>T c.1611C>A c.(1609-1611)atC>atA p.I537I BLCA 1 45472910 45472910 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr1:45472910C>T c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K BLCA 1 45473170 45473170 + Missense_Mutation SNP C C T TCGA-ZF-AA4T-01A-11D-A38G-08 TCGA-ZF-AA4T-10A-01D-A38J-08 g.chr1:45473170C>T c.1418G>A c.(1417-1419)cGc>cAc p.R473H BLCA 1 45474321 45474321 + Missense_Mutation SNP C C A TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr1:45474321C>A c.1125G>T c.(1123-1125)caG>caT p.Q375H BLCA 1 45475257 45475257 + Silent SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 g.chr1:45475257C>T c.858G>A c.(856-858)aaG>aaA p.K286K BLCA 1 45475299 45475299 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr1:45475299G>A c.816C>T c.(814-816)agC>agT p.S272S BLCA 1 45475789 45475789 + Missense_Mutation SNP C C T TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr1:45475789C>T c.628G>A c.(628-630)Gta>Ata p.V210I BLCA 1 45476220 45476220 + Silent SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:45476220G>A c.528C>T c.(526-528)ctC>ctT p.L176L BRCA 1 45472650 45472650 + Missense_Mutation SNP A A C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 g.chr1:45472650A>C c.1594T>G c.(1594-1596)Ttt>Gtt p.F532V BRCA 1 45475954 45475954 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr1:45475954A>C c.542T>G c.(541-543)gTg>gGg p.V181G BRCA 1 45475964 45475964 + Splice_Site SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr1:45475964A>C c.532T>G c.(532-534)Tgg>Ggg p.W178G CESC 1 45469601 45469601 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:45469601C>T c.2355G>A c.(2353-2355)cgG>cgA p.R785R CESC 1 45469790 45469790 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 g.chr1:45469790G>A c.2289C>T c.(2287-2289)ttC>ttT p.F763F CESC 1 45469798 45469798 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:45469798C>G c.2281G>C c.(2281-2283)Gag>Cag p.E761Q CESC 1 45469950 45469950 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:45469950C>G c.2242G>C c.(2242-2244)Gag>Cag p.E748Q CESC 1 45470392 45470392 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:45470392C>T c.2022G>A c.(2020-2022)ctG>ctA p.L674L CESC 1 45470457 45470457 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:45470457C>G c.1957G>C c.(1957-1959)Gaa>Caa p.E653Q CESC 1 45471529 45471529 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr1:45471529C>T c.1872G>A c.(1870-1872)tgG>tgA p.W624* CESC 1 45474374 45474374 + Splice_Site SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:45474374C>T c.e8-1 COAD 1 45469565 45469565 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:45469565G>A c.2391C>T c.(2389-2391)cgC>cgT p.R797R COAD 1 45469584 45469584 + Missense_Mutation SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:45469584A>G c.2372T>C c.(2371-2373)tTt>tCt p.F791S COAD 1 45471734 45471734 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:45471734C>T c.1780G>A c.(1780-1782)Gac>Aac p.D594N COAD 1 45472400 45472400 + Frame_Shift_Del DEL G G - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:45472400delG c.1689delC c.(1687-1689)cccfs p.P563fs COAD 1 45473240 45473240 + Missense_Mutation SNP G G A TCGA-AA-A00O-01A-02W-A00E-09 TCGA-AA-A00O-10A-01W-A00E-09 g.chr1:45473240G>A c.1348C>T c.(1348-1350)Cgc>Tgc p.R450C COAD 1 45473991 45473991 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:45473991A>C c.1241T>G c.(1240-1242)tTc>tGc p.F414C COAD 1 45474833 45474833 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:45474833C>T c.1055G>A c.(1054-1056)cGc>cAc p.R352H COAD 1 45475895 45475895 + Missense_Mutation SNP C C T TCGA-AA-A01V-01A-23W-A096-10 TCGA-AA-A01V-11A-11W-A096-10 g.chr1:45475895C>T c.601G>A c.(601-603)Gca>Aca p.A201T COADREAD 1 45469395 45469395 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:45469395G>A c.2447C>T c.(2446-2448)gCg>gTg p.A816V COADREAD 1 45469565 45469565 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:45469565G>A c.2391C>T c.(2389-2391)cgC>cgT p.R797R COADREAD 1 45469584 45469584 + Missense_Mutation SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:45469584A>G c.2372T>C c.(2371-2373)tTt>tCt p.F791S COADREAD 1 45471734 45471734 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:45471734C>T c.1780G>A c.(1780-1782)Gac>Aac p.D594N COADREAD 1 45472400 45472400 + Frame_Shift_Del DEL G G - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:45472400delG c.1689delC c.(1687-1689)cccfs p.P563fs COADREAD 1 45473240 45473240 + Missense_Mutation SNP G G A TCGA-AA-A00O-01A-02W-A00E-09 TCGA-AA-A00O-10A-01W-A00E-09 g.chr1:45473240G>A c.1348C>T c.(1348-1350)Cgc>Tgc p.R450C COADREAD 1 45473991 45473991 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:45473991A>C c.1241T>G c.(1240-1242)tTc>tGc p.F414C COADREAD 1 45474833 45474833 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:45474833C>T c.1055G>A c.(1054-1056)cGc>cAc p.R352H COADREAD 1 45475346 45475346 + Missense_Mutation SNP T T C TCGA-AH-6644-01A-21D-1826-10 TCGA-AH-6644-10A-01D-1826-10 g.chr1:45475346T>C c.769A>G c.(769-771)Aac>Gac p.N257D COADREAD 1 45475351 45475351 + Missense_Mutation SNP T T G TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr1:45475351T>G c.764A>C c.(763-765)gAg>gCg p.E255A COADREAD 1 45475895 45475895 + Missense_Mutation SNP C C T TCGA-AA-A01V-01A-23W-A096-10 TCGA-AA-A01V-11A-11W-A096-10 g.chr1:45475895C>T c.601G>A c.(601-603)Gca>Aca p.A201T COADREAD 1 45476352 45476352 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:45476352G>A c.396C>T c.(394-396)gaC>gaT p.D132D ESCA 1 45473171 45473171 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr1:45473171G>A c.1417C>T c.(1417-1419)Cgc>Tgc p.R473C ESCA 1 45475895 45475895 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr1:45475895C>T c.601G>A c.(601-603)Gca>Aca p.A201T GBMLGG 1 45475919 45475919 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:45475919T>C c.577A>G c.(577-579)Aga>Gga p.R193G HNSC 1 45471685 45471685 + Missense_Mutation SNP C C T TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr1:45471685C>T c.1829G>A c.(1828-1830)cGg>cAg p.R610Q HNSC 1 45472642 45472642 + Silent SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr1:45472642T>A c.1602A>T c.(1600-1602)gcA>gcT p.A534A HNSC 1 45473174 45473174 + Missense_Mutation SNP G G T TCGA-BA-A6DF-01A-11D-A30E-08 TCGA-BA-A6DF-10A-01D-A30H-08 g.chr1:45473174G>T c.1414C>A c.(1414-1416)Cca>Aca p.P472T HNSC 1 45474374 45474374 + Splice_Site SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr1:45474374C>A c.e8-1 HNSC 1 45475780 45475780 + Missense_Mutation SNP T T C TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 g.chr1:45475780T>C c.637A>G c.(637-639)Aca>Gca p.T213A KIPAN 1 45471468 45471468 + Missense_Mutation SNP G G T TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr1:45471468G>T c.1933C>A c.(1933-1935)Ctg>Atg p.L645M KIPAN 1 45473182 45473182 + Missense_Mutation SNP C C A TCGA-CJ-5686-01A-11D-1669-08 TCGA-CJ-5686-11A-01D-1669-08 g.chr1:45473182C>A c.1406G>T c.(1405-1407)aGc>aTc p.S469I KIPAN 1 45476654 45476654 + Silent SNP G G C TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr1:45476654G>C c.276C>G c.(274-276)gcC>gcG p.A92A KIRC 1 45471468 45471468 + Missense_Mutation SNP G G T TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr1:45471468G>T c.1933C>A c.(1933-1935)Ctg>Atg p.L645M KIRC 1 45473182 45473182 + Missense_Mutation SNP C C A TCGA-CJ-5686-01A-11D-1669-08 TCGA-CJ-5686-11A-01D-1669-08 g.chr1:45473182C>A c.1406G>T c.(1405-1407)aGc>aTc p.S469I KIRC 1 45476654 45476654 + Silent SNP G G C TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr1:45476654G>C c.276C>G c.(274-276)gcC>gcG p.A92A LGG 1 45475919 45475919 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:45475919T>C c.577A>G c.(577-579)Aga>Gga p.R193G LIHC 1 45469234 45469234 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr1:45469234T>C c.2516A>G c.(2515-2517)gAg>gGg p.E839G LIHC 1 45469577 45469577 + Silent SNP C C T TCGA-CC-A5UE-01A-11D-A28X-10 TCGA-CC-A5UE-10A-01D-A28X-10 g.chr1:45469577C>T c.2379G>A c.(2377-2379)acG>acA p.T793T LIHC 1 45469948 45469948 + Silent SNP C C T TCGA-G3-AAV4-01A-11D-A382-10 TCGA-G3-AAV4-10A-01D-A385-10 g.chr1:45469948C>T c.2244G>A c.(2242-2244)gaG>gaA p.E748E LIHC 1 45469991 45469991 + Missense_Mutation SNP A A G TCGA-DD-A1ED-01A-11D-A152-10 TCGA-DD-A1ED-10A-01D-A152-10 g.chr1:45469991A>G c.2201T>C c.(2200-2202)cTg>cCg p.L734P LIHC 1 45473144 45473144 + Missense_Mutation SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr1:45473144T>C c.1444A>G c.(1444-1446)Atg>Gtg p.M482V LIHC 1 45474271 45474271 + Frame_Shift_Del DEL C C - TCGA-BC-A8YO-01A-11D-A36X-10 TCGA-BC-A8YO-10A-01D-A370-10 g.chr1:45474271delC c.1175delG c.(1174-1176)cgafs p.R392fs LUAD 1 45469348 45469348 + Missense_Mutation SNP A A G TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr1:45469348A>G c.2494T>C c.(2494-2496)Tat>Cat p.Y832H LUAD 1 45470021 45470021 + Missense_Mutation SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chr1:45470021T>A c.2171A>T c.(2170-2172)aAg>aTg p.K724M LUAD 1 45470039 45470039 + Missense_Mutation SNP A A T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr1:45470039A>T c.2153T>A c.(2152-2154)aTg>aAg p.M718K LUAD 1 45471493 45471493 + Missense_Mutation SNP C C A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 g.chr1:45471493C>A c.1908G>T c.(1906-1908)aaG>aaT p.K636N LUAD 1 45472399 45472399 + Missense_Mutation SNP C C T TCGA-97-A4M3-01A-11D-A24P-08 TCGA-97-A4M3-10A-01D-A24P-08 g.chr1:45472399C>T c.1690G>A c.(1690-1692)Gtg>Atg p.V564M LUAD 1 45474216 45474216 + Silent SNP G G T TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr1:45474216G>T c.1230C>A c.(1228-1230)ctC>ctA p.L410L LUAD 1 45475126 45475126 + Missense_Mutation SNP C C T TCGA-NJ-A4YG-01A-22D-A25L-08 TCGA-NJ-A4YG-10A-01D-A25L-08 g.chr1:45475126C>T c.904G>A c.(904-906)Gat>Aat p.D302N LUAD 1 45476639 45476639 + Missense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr1:45476639C>A c.291G>T c.(289-291)gaG>gaT p.E97D LUSC 1 45469374 45469374 + Missense_Mutation SNP C C T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr1:45469374C>T c.2468G>A c.(2467-2469)tGc>tAc p.C823Y LUSC 1 45469399 45469399 + Missense_Mutation SNP C C T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr1:45469399C>T c.2443G>A c.(2443-2445)Gac>Aac p.D815N OV 1 45469606 45469606 + Missense_Mutation SNP C C A TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 g.chr1:45469606C>A c.2350G>T c.(2350-2352)Gac>Tac p.D784Y OV 1 45475345 45475345 + Missense_Mutation SNP T T C TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 g.chr1:45475345T>C c.770A>G c.(769-771)aAc>aGc p.N257S PAAD 1 45470286 45470286 + Nonsense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:45470286C>A c.2128G>T c.(2128-2130)Gag>Tag p.E710* PRAD 1 45469960 45469960 + Silent SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:45469960A>G c.2232T>C c.(2230-2232)tgT>tgC p.C744C PRAD 1 45472380 45472380 + Missense_Mutation SNP A A C TCGA-EJ-7328-01A-31D-2114-08 TCGA-EJ-7328-10A-01D-2114-08 g.chr1:45472380A>C c.1709T>G c.(1708-1710)gTa>gGa p.V570G PRAD 1 45475738 45475738 + Missense_Mutation SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:45475738A>G c.679T>C c.(679-681)Tat>Cat p.Y227H READ 1 45469395 45469395 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:45469395G>A c.2447C>T c.(2446-2448)gCg>gTg p.A816V READ 1 45475346 45475346 + Missense_Mutation SNP T T C TCGA-AH-6644-01A-21D-1826-10 TCGA-AH-6644-10A-01D-1826-10 g.chr1:45475346T>C c.769A>G c.(769-771)Aac>Gac p.N257D READ 1 45475351 45475351 + Missense_Mutation SNP T T G TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr1:45475351T>G c.764A>C c.(763-765)gAg>gCg p.E255A READ 1 45476352 45476352 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:45476352G>A c.396C>T c.(394-396)gaC>gaT p.D132D SKCM 1 45469358 45469358 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:45469358G>A c.2484C>T c.(2482-2484)ttC>ttT p.F828F SKCM 1 45470324 45470324 + Missense_Mutation SNP G G A TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr1:45470324G>A c.2090C>T c.(2089-2091)tCt>tTt p.S697F SKCM 1 45472388 45472388 + Silent SNP G G A TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr1:45472388G>A c.1701C>T c.(1699-1701)ccC>ccT p.P567P SKCM 1 45475072 45475072 + Missense_Mutation SNP G G T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr1:45475072G>T c.958C>A c.(958-960)Ctg>Atg p.L320M SKCM 1 45475073 45475073 + Silent SNP G G A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr1:45475073G>A c.957C>T c.(955-957)aaC>aaT p.N319N SKCM 1 45475742 45475742 + Missense_Mutation SNP G G T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:45475742G>T c.675C>A c.(673-675)ttC>ttA p.F225L SKCM 1 45476265 45476265 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr1:45476265G>A c.483C>T c.(481-483)ctC>ctT p.L161L

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 1 45475931 45475931 single base substitution G A missense_variant R189C 565C>T BLCA-CN 1 45475931 45475931 single base substitution G A upstream_gene_variant BLCA-CN 1 45476305 45476305 single base substitution C T missense_variant G148D 443G>A BLCA-CN 1 45476305 45476305 single base substitution C T upstream_gene_variant BLCA-CN 1 45477941 45477941 single base substitution G A upstream_gene_variant BLCA-US 1 45472910 45472910 single base substitution C T missense_variant E123K 367G>A BLCA-US 1 45472910 45472910 single base substitution C T missense_variant E513K 1537G>A BLCA-US 1 45472910 45472910 single base substitution C T upstream_gene_variant BLCA-US 1 45475257 45475257 single base substitution C T synonymous_variant K286K 858G>A BLCA-US 1 45475257 45475257 single base substitution C T upstream_gene_variant BLCA-US 1 45479331 45479332 deletion of <=200bp AG - upstream_gene_variant BLCA-US 1 45480182 45480182 single base substitution C T upstream_gene_variant BRCA-EU 1 45465162 45465168 deletion of <=200bp CTCGTTG - downstream_gene_variant BRCA-EU 1 45465521 45465521 single base substitution C G downstream_gene_variant BRCA-EU 1 45466256 45466256 single base substitution C T downstream_gene_variant BRCA-EU 1 45467244 45467244 deletion of <=200bp G - downstream_gene_variant BRCA-EU 1 45467368 45467368 single base substitution A T downstream_gene_variant BRCA-EU 1 45470174 45470174 single base substitution C G downstream_gene_variant BRCA-EU 1 45470174 45470174 single base substitution C G intron_variant BRCA-EU 1 45471245 45471245 single base substitution G A downstream_gene_variant BRCA-EU 1 45471245 45471245 single base substitution G A exon_variant BRCA-EU 1 45471245 45471245 single base substitution G A intron_variant BRCA-EU 1 45471581 45471581 single base substitution C G downstream_gene_variant BRCA-EU 1 45471581 45471581 single base substitution C G exon_variant BRCA-EU 1 45471581 45471581 single base substitution C G intron_variant BRCA-EU 1 45471581 45471581 single base substitution C G upstream_gene_variant BRCA-EU 1 45471854 45471854 single base substitution C T exon_variant BRCA-EU 1 45471854 45471854 single base substitution C T intron_variant BRCA-EU 1 45471854 45471854 single base substitution C T upstream_gene_variant BRCA-EU 1 45472890 45472890 single base substitution C A splice_donor_variant BRCA-EU 1 45472890 45472890 single base substitution C A upstream_gene_variant BRCA-EU 1 45474518 45474519 deletion of <=200bp CT - intron_variant BRCA-EU 1 45474518 45474519 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 1 45475855 45475855 single base substitution C T intron_variant BRCA-EU 1 45475855 45475855 single base substitution C T upstream_gene_variant BRCA-EU 1 45475892 45475892 single base substitution C T missense_variant E202K 604G>A BRCA-EU 1 45475892 45475892 single base substitution C T upstream_gene_variant BRCA-EU 1 45477746 45477746 single base substitution C T upstream_gene_variant BRCA-EU 1 45481087 45481087 single base substitution C G upstream_gene_variant BRCA-EU 1 45481528 45481528 single base substitution G A upstream_gene_variant BRCA-FR 1 45471245 45471245 single base substitution G A downstream_gene_variant BRCA-FR 1 45471245 45471245 single base substitution G A exon_variant BRCA-FR 1 45471245 45471245 single base substitution G A intron_variant BRCA-FR 1 45471581 45471581 single base substitution C G downstream_gene_variant BRCA-FR 1 45471581 45471581 single base substitution C G exon_variant BRCA-FR 1 45471581 45471581 single base substitution C G intron_variant BRCA-FR 1 45471581 45471581 single base substitution C G upstream_gene_variant BRCA-FR 1 45471854 45471854 single base substitution C T exon_variant BRCA-FR 1 45471854 45471854 single base substitution C T intron_variant BRCA-FR 1 45471854 45471854 single base substitution C T upstream_gene_variant BRCA-FR 1 45476725 45476725 single base substitution C A stop_gained E69* 205G>T BRCA-FR 1 45476725 45476725 single base substitution C A upstream_gene_variant BRCA-FR 1 45481087 45481087 single base substitution C G upstream_gene_variant BRCA-FR 1 45481528 45481528 single base substitution G A upstream_gene_variant BRCA-KR 1 45471529 45471529 single base substitution C T downstream_gene_variant BRCA-KR 1 45471529 45471529 single base substitution C T exon_variant BRCA-KR 1 45471529 45471529 single base substitution C T stop_gained W234* 702G>A BRCA-KR 1 45471529 45471529 single base substitution C T stop_gained W624* 1872G>A BRCA-KR 1 45471529 45471529 single base substitution C T upstream_gene_variant BRCA-UK 1 45469588 45469588 single base substitution G A downstream_gene_variant BRCA-UK 1 45469588 45469588 single base substitution G A exon_variant BRCA-UK 1 45469588 45469588 single base substitution G A missense_variant R400C 1198C>T BRCA-UK 1 45469588 45469588 single base substitution G A missense_variant R790C 2368C>T BRCA-UK 1 45475675 45475675 single base substitution C G missense_variant D248H 742G>C BRCA-UK 1 45475675 45475675 single base substitution C G upstream_gene_variant BRCA-US 1 45472650 45472650 single base substitution A C exon_variant BRCA-US 1 45472650 45472650 single base substitution A C missense_variant F142V 424T>G BRCA-US 1 45472650 45472650 single base substitution A C missense_variant F532V 1594T>G BRCA-US 1 45472650 45472650 single base substitution A C upstream_gene_variant BRCA-US 1 45474006 45474006 single base substitution G C intron_variant BRCA-US 1 45474006 45474006 single base substitution G C missense_variant S19C 56C>G BRCA-US 1 45474006 45474006 single base substitution G C upstream_gene_variant BRCA-US 1 45475954 45475954 single base substitution A C missense_variant V181G 542T>G BRCA-US 1 45475954 45475954 single base substitution A C upstream_gene_variant BRCA-US 1 45475964 45475964 single base substitution A C missense_variant W178G 532T>G BRCA-US 1 45475964 45475964 single base substitution A C upstream_gene_variant BRCA-US 1 45478691 45478691 deletion of <=200bp G - upstream_gene_variant BRCA-US 1 45480407 45480407 single base substitution G C upstream_gene_variant BRCA-US 1 45480829 45480829 single base substitution T C upstream_gene_variant BTCA-JP 1 45469155 45469155 single base substitution C T 3_prime_UTR_variant BTCA-JP 1 45469155 45469155 single base substitution C T downstream_gene_variant BTCA-JP 1 45469155 45469155 single base substitution C T exon_variant BTCA-JP 1 45469388 45469388 single base substitution G A downstream_gene_variant BTCA-JP 1 45469388 45469388 single base substitution G A exon_variant BTCA-JP 1 45469388 45469388 single base substitution G A synonymous_variant P428P 1284C>T BTCA-JP 1 45469388 45469388 single base substitution G A synonymous_variant P818P 2454C>T BTCA-JP 1 45469586 45469586 single base substitution G A downstream_gene_variant BTCA-JP 1 45469586 45469586 single base substitution G A exon_variant BTCA-JP 1 45469586 45469586 single base substitution G A synonymous_variant R400R 1200C>T BTCA-JP 1 45469586 45469586 single base substitution G A synonymous_variant R790R 2370C>T BTCA-JP 1 45470097 45470097 single base substitution C G downstream_gene_variant BTCA-JP 1 45470097 45470097 single base substitution C G intron_variant BTCA-JP 1 45470324 45470324 single base substitution G T downstream_gene_variant BTCA-JP 1 45470324 45470324 single base substitution G T exon_variant BTCA-JP 1 45470324 45470324 single base substitution G T missense_variant S307Y 920C>A BTCA-JP 1 45470324 45470324 single base substitution G T missense_variant S697Y 2090C>A BTCA-JP 1 45472806 45472806 single base substitution G T intron_variant BTCA-JP 1 45472806 45472806 single base substitution G T upstream_gene_variant BTCA-JP 1 45473297 45473297 single base substitution T C intron_variant BTCA-JP 1 45473297 45473297 single base substitution T C upstream_gene_variant BTCA-JP 1 45474706 45474706 single base substitution A G intron_variant BTCA-JP 1 45474706 45474706 single base substitution A G upstream_gene_variant BTCA-JP 1 45474873 45474873 single base substitution G A synonymous_variant L339L 1015C>T BTCA-JP 1 45474873 45474873 single base substitution G A upstream_gene_variant BTCA-JP 1 45478553 45478553 single base substitution T C upstream_gene_variant BTCA-JP 1 45478974 45478974 single base substitution G A upstream_gene_variant BTCA-JP 1 45479499 45479499 single base substitution G C upstream_gene_variant CESC-US 1 45468859 45468859 single base substitution G C 3_prime_UTR_variant CESC-US 1 45468859 45468859 single base substitution G C downstream_gene_variant CESC-US 1 45468859 45468859 single base substitution G C exon_variant CESC-US 1 45469601 45469601 single base substitution C T downstream_gene_variant CESC-US 1 45469601 45469601 single base substitution C T exon_variant CESC-US 1 45469601 45469601 single base substitution C T synonymous_variant R395R 1185G>A CESC-US 1 45469601 45469601 single base substitution C T synonymous_variant R785R 2355G>A CESC-US 1 45469790 45469790 single base substitution G A downstream_gene_variant CESC-US 1 45469790 45469790 single base substitution G A exon_variant CESC-US 1 45469790 45469790 single base substitution G A synonymous_variant F373F 1119C>T CESC-US 1 45469790 45469790 single base substitution G A synonymous_variant F763F 2289C>T CESC-US 1 45469798 45469798 single base substitution C G downstream_gene_variant CESC-US 1 45469798 45469798 single base substitution C G exon_variant CESC-US 1 45469798 45469798 single base substitution C G missense_variant E371Q 1111G>C CESC-US 1 45469798 45469798 single base substitution C G missense_variant E761Q 2281G>C CESC-US 1 45469950 45469950 single base substitution C G downstream_gene_variant CESC-US 1 45469950 45469950 single base substitution C G exon_variant CESC-US 1 45469950 45469950 single base substitution C G missense_variant E358Q 1072G>C CESC-US 1 45469950 45469950 single base substitution C G missense_variant E748Q 2242G>C CESC-US 1 45470392 45470392 single base substitution C T downstream_gene_variant CESC-US 1 45470392 45470392 single base substitution C T exon_variant CESC-US 1 45470392 45470392 single base substitution C T synonymous_variant L284L 852G>A CESC-US 1 45470392 45470392 single base substitution C T synonymous_variant L674L 2022G>A CESC-US 1 45470457 45470457 single base substitution C G downstream_gene_variant CESC-US 1 45470457 45470457 single base substitution C G exon_variant CESC-US 1 45470457 45470457 single base substitution C G missense_variant E263Q 787G>C CESC-US 1 45470457 45470457 single base substitution C G missense_variant E653Q 1957G>C CESC-US 1 45471529 45471529 single base substitution C T downstream_gene_variant CESC-US 1 45471529 45471529 single base substitution C T exon_variant CESC-US 1 45471529 45471529 single base substitution C T stop_gained W234* 702G>A CESC-US 1 45471529 45471529 single base substitution C T stop_gained W624* 1872G>A CESC-US 1 45471529 45471529 single base substitution C T upstream_gene_variant CESC-US 1 45474374 45474374 single base substitution C T splice_acceptor_variant CESC-US 1 45474374 45474374 single base substitution C T upstream_gene_variant CESC-US 1 45479966 45479966 insertion of <=200bp - T upstream_gene_variant CESC-US 1 45480138 45480138 single base substitution G A upstream_gene_variant CLLE-ES 1 45478171 45478171 single base substitution C A upstream_gene_variant CLLE-ES 1 45480094 45480094 single base substitution C T upstream_gene_variant COAD-US 1 45469176 45469176 single base substitution A T downstream_gene_variant COAD-US 1 45469176 45469176 single base substitution A T exon_variant COAD-US 1 45469176 45469176 single base substitution A T synonymous_variant P468P 1404T>A COAD-US 1 45469176 45469176 single base substitution A T synonymous_variant P858P 2574T>A COAD-US 1 45469586 45469586 single base substitution G A downstream_gene_variant COAD-US 1 45469586 45469586 single base substitution G A exon_variant COAD-US 1 45469586 45469586 single base substitution G A synonymous_variant R400R 1200C>T COAD-US 1 45469586 45469586 single base substitution G A synonymous_variant R790R 2370C>T COAD-US 1 45471734 45471734 single base substitution C T downstream_gene_variant COAD-US 1 45471734 45471734 single base substitution C T exon_variant COAD-US 1 45471734 45471734 single base substitution C T missense_variant D204N 610G>A COAD-US 1 45471734 45471734 single base substitution C T missense_variant D594N 1780G>A COAD-US 1 45471734 45471734 single base substitution C T upstream_gene_variant COAD-US 1 45472400 45472400 deletion of <=200bp G - exon_variant COAD-US 1 45472400 45472400 deletion of <=200bp G - frameshift_variant P173 COAD-US 1 45472400 45472400 deletion of <=200bp G - frameshift_variant P563 COAD-US 1 45472400 45472400 deletion of <=200bp G - upstream_gene_variant COAD-US 1 45478653 45478653 single base substitution C T upstream_gene_variant COAD-US 1 45479709 45479709 single base substitution A G upstream_gene_variant COAD-US 1 45480122 45480122 single base substitution G A upstream_gene_variant COAD-US 1 45480612 45480612 single base substitution G A upstream_gene_variant COAD-US 1 45480657 45480657 insertion of <=200bp - A upstream_gene_variant COAD-US 1 45481150 45481150 single base substitution C T upstream_gene_variant COCA-CN 1 45470515 45470515 single base substitution A G downstream_gene_variant COCA-CN 1 45470515 45470515 single base substitution A G exon_variant COCA-CN 1 45470515 45470515 single base substitution A G intron_variant COCA-CN 1 45473004 45473004 single base substitution G T intron_variant COCA-CN 1 45473004 45473004 single base substitution G T upstream_gene_variant COCA-CN 1 45474755 45474755 single base substitution C G intron_variant COCA-CN 1 45474755 45474755 single base substitution C G upstream_gene_variant COCA-CN 1 45475763 45475763 single base substitution G A synonymous_variant C218C 654C>T COCA-CN 1 45475763 45475763 single base substitution G A upstream_gene_variant COCA-CN 1 45479494 45479494 single base substitution G A upstream_gene_variant ESAD-UK 1 45463482 45463482 single base substitution C T downstream_gene_variant ESAD-UK 1 45469013 45469013 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 45469013 45469013 single base substitution A C downstream_gene_variant ESAD-UK 1 45469013 45469013 single base substitution A C exon_variant ESAD-UK 1 45472355 45472355 single base substitution G A intron_variant ESAD-UK 1 45472355 45472355 single base substitution G A upstream_gene_variant ESAD-UK 1 45473968 45473968 single base substitution G C missense_variant L32V 94C>G ESAD-UK 1 45473968 45473968 single base substitution G C missense_variant L422V 1264C>G ESAD-UK 1 45473968 45473968 single base substitution G C upstream_gene_variant ESAD-UK 1 45474421 45474421 single base substitution C T intron_variant ESAD-UK 1 45474421 45474421 single base substitution C T upstream_gene_variant ESAD-UK 1 45479247 45479267 deletion of <=200bp ATGTTTTCTCCCCCTCCAGGC - upstream_gene_variant ESAD-UK 1 45480693 45480693 single base substitution C T upstream_gene_variant ESAD-UK 1 45481963 45481963 single base substitution T G upstream_gene_variant ESCA-CN 1 45469572 45469572 single base substitution C T downstream_gene_variant ESCA-CN 1 45469572 45469572 single base substitution C T exon_variant ESCA-CN 1 45469572 45469572 single base substitution C T missense_variant R405H 1214G>A ESCA-CN 1 45469572 45469572 single base substitution C T missense_variant R795H 2384G>A ESCA-CN 1 45476489 45476489 single base substitution A G intron_variant ESCA-CN 1 45476489 45476489 single base substitution A G upstream_gene_variant KIRC-US 1 45471468 45471468 single base substitution G T downstream_gene_variant KIRC-US 1 45471468 45471468 single base substitution G T exon_variant KIRC-US 1 45471468 45471468 single base substitution G T missense_variant L255M 763C>A KIRC-US 1 45471468 45471468 single base substitution G T missense_variant L645M 1933C>A KIRC-US 1 45471468 45471468 single base substitution G T splice_region_variant KIRC-US 1 45471468 45471468 single base substitution G T upstream_gene_variant KIRC-US 1 45473182 45473182 single base substitution C A missense_variant S469I 1406G>T KIRC-US 1 45473182 45473182 single base substitution C A missense_variant S79I 236G>T KIRC-US 1 45473182 45473182 single base substitution C A upstream_gene_variant KIRC-US 1 45476654 45476654 single base substitution G C synonymous_variant A92A 276C>G KIRC-US 1 45476654 45476654 single base substitution G C upstream_gene_variant KIRP-US 1 45478626 45478626 single base substitution C T upstream_gene_variant LAML-KR 1 45474157 45474157 single base substitution G A 5_prime_UTR_variant LAML-KR 1 45474157 45474157 single base substitution G A intron_variant LAML-KR 1 45474157 45474157 single base substitution G A upstream_gene_variant LICA-FR 1 45465470 45465470 single base substitution C A downstream_gene_variant LICA-FR 1 45468735 45468735 single base substitution C G 3_prime_UTR_variant LICA-FR 1 45468735 45468735 single base substitution C G downstream_gene_variant LICA-FR 1 45468735 45468735 single base substitution C G exon_variant LICA-FR 1 45477200 45477200 single base substitution G T upstream_gene_variant LICA-FR 1 45478997 45478997 single base substitution A G upstream_gene_variant LIHC-US 1 45469577 45469577 single base substitution C T downstream_gene_variant LIHC-US 1 45469577 45469577 single base substitution C T exon_variant LIHC-US 1 45469577 45469577 single base substitution C T synonymous_variant T403T 1209G>A LIHC-US 1 45469577 45469577 single base substitution C T synonymous_variant T793T 2379G>A LINC-JP 1 45469446 45469446 single base substitution T C downstream_gene_variant LINC-JP 1 45469446 45469446 single base substitution T C intron_variant LINC-JP 1 45470437 45470437 single base substitution C A downstream_gene_variant LINC-JP 1 45470437 45470437 single base substitution C A exon_variant LINC-JP 1 45470437 45470437 single base substitution C A synonymous_variant T269T 807G>T LINC-JP 1 45470437 45470437 single base substitution C A synonymous_variant T659T 1977G>T LINC-JP 1 45472548 45472548 single base substitution T C intron_variant LINC-JP 1 45472548 45472548 single base substitution T C upstream_gene_variant LINC-JP 1 45475543 45475543 single base substitution G C intron_variant LINC-JP 1 45475543 45475543 single base substitution G C upstream_gene_variant LIRI-JP 1 45463543 45463543 single base substitution T C downstream_gene_variant LIRI-JP 1 45463810 45463810 single base substitution T C downstream_gene_variant LIRI-JP 1 45465910 45465910 single base substitution T C downstream_gene_variant LIRI-JP 1 45466123 45466123 single base substitution C A downstream_gene_variant LIRI-JP 1 45467423 45467423 single base substitution G A downstream_gene_variant LIRI-JP 1 45472699 45472699 single base substitution G A exon_variant LIRI-JP 1 45472699 45472699 single base substitution G A intron_variant LIRI-JP 1 45472699 45472699 single base substitution G A upstream_gene_variant LIRI-JP 1 45474771 45474771 single base substitution C A intron_variant LIRI-JP 1 45474771 45474771 single base substitution C A upstream_gene_variant LIRI-JP 1 45474960 45474960 single base substitution G C intron_variant LIRI-JP 1 45474960 45474960 single base substitution G C upstream_gene_variant LIRI-JP 1 45478455 45478455 single base substitution T C upstream_gene_variant LIRI-JP 1 45481375 45481375 single base substitution G A upstream_gene_variant LUSC-KR 1 45463365 45463365 single base substitution G C downstream_gene_variant LUSC-KR 1 45466166 45466166 single base substitution C A downstream_gene_variant LUSC-KR 1 45471016 45471016 single base substitution C G downstream_gene_variant LUSC-KR 1 45471016 45471016 single base substitution C G exon_variant LUSC-KR 1 45471016 45471016 single base substitution C G intron_variant LUSC-KR 1 45472820 45472820 single base substitution G T intron_variant LUSC-KR 1 45472820 45472820 single base substitution G T upstream_gene_variant LUSC-KR 1 45472822 45472822 single base substitution G T intron_variant LUSC-KR 1 45472822 45472822 single base substitution G T upstream_gene_variant LUSC-KR 1 45474888 45474888 single base substitution C T missense_variant G334R 1000G>A LUSC-KR 1 45474888 45474888 single base substitution C T upstream_gene_variant LUSC-US 1 45469374 45469374 single base substitution C T downstream_gene_variant LUSC-US 1 45469374 45469374 single base substitution C T exon_variant LUSC-US 1 45469374 45469374 single base substitution C T missense_variant C433Y 1298G>A LUSC-US 1 45469374 45469374 single base substitution C T missense_variant C823Y 2468G>A LUSC-US 1 45469399 45469399 single base substitution C T downstream_gene_variant LUSC-US 1 45469399 45469399 single base substitution C T exon_variant LUSC-US 1 45469399 45469399 single base substitution C T missense_variant D425N 1273G>A LUSC-US 1 45469399 45469399 single base substitution C T missense_variant D815N 2443G>A LUSC-US 1 45479354 45479354 single base substitution G A upstream_gene_variant MALY-DE 1 45465596 45465596 single base substitution G A downstream_gene_variant MELA-AU 1 45463303 45463303 single base substitution C T downstream_gene_variant MELA-AU 1 45463565 45463565 single base substitution C T downstream_gene_variant MELA-AU 1 45464321 45464321 single base substitution C T downstream_gene_variant MELA-AU 1 45464656 45464656 single base substitution G A downstream_gene_variant MELA-AU 1 45464730 45464730 single base substitution C T downstream_gene_variant MELA-AU 1 45464764 45464764 single base substitution C T downstream_gene_variant MELA-AU 1 45464858 45464858 single base substitution G A downstream_gene_variant MELA-AU 1 45465069 45465070 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 45465354 45465354 single base substitution A G downstream_gene_variant MELA-AU 1 45465359 45465359 single base substitution A T downstream_gene_variant MELA-AU 1 45465554 45465554 single base substitution G A downstream_gene_variant MELA-AU 1 45466343 45466343 single base substitution C T downstream_gene_variant MELA-AU 1 45466380 45466380 single base substitution G A downstream_gene_variant MELA-AU 1 45467435 45467435 single base substitution G A downstream_gene_variant MELA-AU 1 45467443 45467443 single base substitution A G downstream_gene_variant MELA-AU 1 45468107 45468107 single base substitution C T downstream_gene_variant MELA-AU 1 45468127 45468127 single base substitution C T downstream_gene_variant MELA-AU 1 45468805 45468805 single base substitution G A 3_prime_UTR_variant MELA-AU 1 45468805 45468805 single base substitution G A downstream_gene_variant MELA-AU 1 45468805 45468805 single base substitution G A exon_variant MELA-AU 1 45468925 45468925 single base substitution G A 3_prime_UTR_variant MELA-AU 1 45468925 45468925 single base substitution G A downstream_gene_variant MELA-AU 1 45468925 45468925 single base substitution G A exon_variant MELA-AU 1 45468927 45468927 single base substitution G A 3_prime_UTR_variant MELA-AU 1 45468927 45468927 single base substitution G A downstream_gene_variant MELA-AU 1 45468927 45468927 single base substitution G A exon_variant MELA-AU 1 45469084 45469084 single base substitution G A 3_prime_UTR_variant MELA-AU 1 45469084 45469084 single base substitution G A downstream_gene_variant MELA-AU 1 45469084 45469084 single base substitution G A exon_variant MELA-AU 1 45469212 45469213 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 45469212 45469213 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 1 45469212 45469213 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant A456V 1367CC>TT MELA-AU 1 45469212 45469213 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant A846V 2537CC>TT MELA-AU 1 45469441 45469441 single base substitution G A downstream_gene_variant MELA-AU 1 45469441 45469441 single base substitution G A intron_variant MELA-AU 1 45470969 45470969 single base substitution G A downstream_gene_variant MELA-AU 1 45470969 45470969 single base substitution G A exon_variant MELA-AU 1 45470969 45470969 single base substitution G A intron_variant MELA-AU 1 45471003 45471003 single base substitution G A downstream_gene_variant MELA-AU 1 45471003 45471003 single base substitution G A exon_variant MELA-AU 1 45471003 45471003 single base substitution G A intron_variant MELA-AU 1 45471123 45471123 single base substitution G A downstream_gene_variant MELA-AU 1 45471123 45471123 single base substitution G A exon_variant MELA-AU 1 45471123 45471123 single base substitution G A intron_variant MELA-AU 1 45471134 45471134 single base substitution G A downstream_gene_variant MELA-AU 1 45471134 45471134 single base substitution G A exon_variant MELA-AU 1 45471134 45471134 single base substitution G A intron_variant MELA-AU 1 45471283 45471283 single base substitution G A downstream_gene_variant MELA-AU 1 45471283 45471283 single base substitution G A intron_variant MELA-AU 1 45471283 45471283 single base substitution G A upstream_gene_variant MELA-AU 1 45471463 45471463 single base substitution C T downstream_gene_variant MELA-AU 1 45471463 45471463 single base substitution C T exon_variant MELA-AU 1 45471463 45471463 single base substitution C T splice_region_variant MELA-AU 1 45471463 45471463 single base substitution C T upstream_gene_variant MELA-AU 1 45471703 45471703 single base substitution A G downstream_gene_variant MELA-AU 1 45471703 45471703 single base substitution A G exon_variant MELA-AU 1 45471703 45471703 single base substitution A G missense_variant L214P 641T>C MELA-AU 1 45471703 45471703 single base substitution A G missense_variant L604P 1811T>C MELA-AU 1 45471703 45471703 single base substitution A G upstream_gene_variant MELA-AU 1 45471943 45471943 single base substitution G A intron_variant MELA-AU 1 45471943 45471943 single base substitution G A upstream_gene_variant MELA-AU 1 45472237 45472238 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 1 45472237 45472238 multiple base substitution (>=2bp and <=200bp) GT AG upstream_gene_variant MELA-AU 1 45472822 45472822 single base substitution G T intron_variant MELA-AU 1 45472822 45472822 single base substitution G T upstream_gene_variant MELA-AU 1 45473848 45473848 single base substitution G A intron_variant MELA-AU 1 45473848 45473848 single base substitution G A upstream_gene_variant MELA-AU 1 45474170 45474171 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 1 45474170 45474171 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 45474170 45474171 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 45474176 45474176 single base substitution G A 5_prime_UTR_variant MELA-AU 1 45474176 45474176 single base substitution G A intron_variant MELA-AU 1 45474176 45474176 single base substitution G A upstream_gene_variant MELA-AU 1 45474231 45474231 single base substitution G A synonymous_variant Y405Y 1215C>T MELA-AU 1 45474231 45474231 single base substitution G A upstream_gene_variant MELA-AU 1 45474438 45474438 single base substitution G A intron_variant MELA-AU 1 45474438 45474438 single base substitution G A upstream_gene_variant MELA-AU 1 45476147 45476147 single base substitution T A intron_variant MELA-AU 1 45476147 45476147 single base substitution T A upstream_gene_variant MELA-AU 1 45477018 45477019 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 45477400 45477400 single base substitution G A upstream_gene_variant MELA-AU 1 45477613 45477613 single base substitution G A upstream_gene_variant MELA-AU 1 45477819 45477819 single base substitution T G upstream_gene_variant MELA-AU 1 45477871 45477871 single base substitution G A upstream_gene_variant MELA-AU 1 45478825 45478825 single base substitution G A upstream_gene_variant MELA-AU 1 45478856 45478856 single base substitution C T upstream_gene_variant MELA-AU 1 45479966 45479966 single base substitution A T upstream_gene_variant MELA-AU 1 45481215 45481215 single base substitution C T upstream_gene_variant ORCA-IN 1 45472535 45472535 single base substitution T G intron_variant ORCA-IN 1 45472535 45472535 single base substitution T G upstream_gene_variant ORCA-IN 1 45472830 45472830 single base substitution T G intron_variant ORCA-IN 1 45472830 45472830 single base substitution T G upstream_gene_variant ORCA-IN 1 45475318 45475318 single base substitution G T missense_variant A266D 797C>A ORCA-IN 1 45475318 45475318 single base substitution G T upstream_gene_variant ORCA-IN 1 45476330 45476330 single base substitution G T missense_variant L140M 418C>A ORCA-IN 1 45476330 45476330 single base substitution G T upstream_gene_variant ORCA-IN 1 45477452 45477452 single base substitution C T upstream_gene_variant OV-AU 1 45465603 45465603 single base substitution G A downstream_gene_variant OV-AU 1 45466318 45466318 single base substitution C G downstream_gene_variant OV-AU 1 45467768 45467768 single base substitution G T downstream_gene_variant OV-AU 1 45468501 45468501 single base substitution T C 3_prime_UTR_variant OV-AU 1 45468501 45468501 single base substitution T C downstream_gene_variant OV-AU 1 45468501 45468501 single base substitution T C exon_variant OV-AU 1 45468535 45468535 single base substitution C A 3_prime_UTR_variant OV-AU 1 45468535 45468535 single base substitution C A downstream_gene_variant OV-AU 1 45468535 45468535 single base substitution C A exon_variant OV-AU 1 45478216 45478216 single base substitution C T upstream_gene_variant PACA-AU 1 45467510 45467510 single base substitution C T downstream_gene_variant PACA-AU 1 45471936 45471936 single base substitution A T intron_variant PACA-AU 1 45471936 45471936 single base substitution A T upstream_gene_variant PACA-AU 1 45475055 45475055 single base substitution G A synonymous_variant D325D 975C>T PACA-AU 1 45475055 45475055 single base substitution G A upstream_gene_variant PACA-AU 1 45476818 45476818 single base substitution C A missense_variant A38S 112G>T PACA-AU 1 45476818 45476818 single base substitution C A upstream_gene_variant PACA-AU 1 45481860 45481860 single base substitution G T upstream_gene_variant PACA-CA 1 45469316 45469316 single base substitution A T downstream_gene_variant PACA-CA 1 45469316 45469316 single base substitution A T intron_variant PACA-CA 1 45472139 45472139 single base substitution G A intron_variant PACA-CA 1 45472139 45472139 single base substitution G A upstream_gene_variant PACA-CA 1 45475015 45475015 single base substitution T G intron_variant PACA-CA 1 45475015 45475015 single base substitution T G upstream_gene_variant PACA-CA 1 45476356 45476356 single base substitution C T missense_variant G131D 392G>A PACA-CA 1 45476356 45476356 single base substitution C T upstream_gene_variant PACA-CA 1 45477058 45477066 deletion of <=200bp GCGCACCCC - upstream_gene_variant PACA-CA 1 45477070 45477081 deletion of <=200bp TCTCACTGTATT - upstream_gene_variant PACA-CA 1 45478208 45478208 single base substitution C A upstream_gene_variant PACA-CA 1 45478668 45478668 single base substitution G A upstream_gene_variant PACA-CA 1 45479891 45479891 single base substitution C G upstream_gene_variant PAEN-AU 1 45469198 45469198 single base substitution G A downstream_gene_variant PAEN-AU 1 45469198 45469198 single base substitution G A exon_variant PAEN-AU 1 45469198 45469198 single base substitution G A missense_variant A461V 1382C>T PAEN-AU 1 45469198 45469198 single base substitution G A missense_variant A851V 2552C>T PAEN-AU 1 45476269 45476269 single base substitution T G missense_variant H160P 479A>C PAEN-AU 1 45476269 45476269 single base substitution T G upstream_gene_variant PAEN-IT 1 45470731 45470731 single base substitution G A downstream_gene_variant PAEN-IT 1 45470731 45470731 single base substitution G A exon_variant PAEN-IT 1 45470731 45470731 single base substitution G A intron_variant PBCA-DE 1 45477847 45477847 single base substitution T A upstream_gene_variant PRAD-UK 1 45464018 45464018 single base substitution G A downstream_gene_variant PRAD-UK 1 45467115 45467115 single base substitution C G downstream_gene_variant PRAD-UK 1 45472330 45472330 single base substitution C G intron_variant PRAD-UK 1 45472330 45472330 single base substitution C G upstream_gene_variant PRAD-US 1 45472380 45472380 single base substitution A C exon_variant PRAD-US 1 45472380 45472380 single base substitution A C missense_variant V180G 539T>G PRAD-US 1 45472380 45472380 single base substitution A C missense_variant V570G 1709T>G PRAD-US 1 45472380 45472380 single base substitution A C upstream_gene_variant RECA-EU 1 45472149 45472149 single base substitution T A intron_variant RECA-EU 1 45472149 45472149 single base substitution T A upstream_gene_variant RECA-EU 1 45473607 45473607 single base substitution C T intron_variant RECA-EU 1 45473607 45473607 single base substitution C T upstream_gene_variant RECA-EU 1 45476024 45476024 single base substitution C A intron_variant RECA-EU 1 45476024 45476024 single base substitution C A upstream_gene_variant SKCA-BR 1 45464436 45464436 single base substitution C A downstream_gene_variant SKCA-BR 1 45464436 45464437 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 1 45464450 45464450 single base substitution A C downstream_gene_variant SKCA-BR 1 45464601 45464601 single base substitution C T downstream_gene_variant SKCA-BR 1 45466799 45466799 single base substitution G A downstream_gene_variant SKCA-BR 1 45471362 45471362 single base substitution G A downstream_gene_variant SKCA-BR 1 45471362 45471362 single base substitution G A exon_variant SKCA-BR 1 45471362 45471362 single base substitution G A intron_variant SKCA-BR 1 45471362 45471362 single base substitution G A upstream_gene_variant SKCA-BR 1 45473392 45473392 single base substitution T C intron_variant SKCA-BR 1 45473392 45473392 single base substitution T C upstream_gene_variant SKCA-BR 1 45475737 45475737 single base substitution T C missense_variant Y227C 680A>G SKCA-BR 1 45475737 45475737 single base substitution T C upstream_gene_variant SKCA-BR 1 45479059 45479059 single base substitution C T upstream_gene_variant SKCM-US 1 45469358 45469358 single base substitution G A downstream_gene_variant SKCM-US 1 45469358 45469358 single base substitution G A exon_variant SKCM-US 1 45469358 45469358 single base substitution G A synonymous_variant F438F 1314C>T SKCM-US 1 45469358 45469358 single base substitution G A synonymous_variant F828F 2484C>T SKCM-US 1 45470324 45470324 single base substitution G A downstream_gene_variant SKCM-US 1 45470324 45470324 single base substitution G A exon_variant SKCM-US 1 45470324 45470324 single base substitution G A missense_variant S307F 920C>T SKCM-US 1 45470324 45470324 single base substitution G A missense_variant S697F 2090C>T SKCM-US 1 45470428 45470428 single base substitution G A downstream_gene_variant SKCM-US 1 45470428 45470428 single base substitution G A exon_variant SKCM-US 1 45470428 45470428 single base substitution G A synonymous_variant F272F 816C>T SKCM-US 1 45470428 45470428 single base substitution G A synonymous_variant F662F 1986C>T SKCM-US 1 45470430 45470430 single base substitution A C downstream_gene_variant SKCM-US 1 45470430 45470430 single base substitution A C exon_variant SKCM-US 1 45470430 45470430 single base substitution A C missense_variant F272V 814T>G SKCM-US 1 45470430 45470430 single base substitution A C missense_variant F662V 1984T>G SKCM-US 1 45472388 45472388 single base substitution G A exon_variant SKCM-US 1 45472388 45472388 single base substitution G A synonymous_variant P177P 531C>T SKCM-US 1 45472388 45472388 single base substitution G A synonymous_variant P567P 1701C>T SKCM-US 1 45472388 45472388 single base substitution G A upstream_gene_variant SKCM-US 1 45474336 45474336 single base substitution G A synonymous_variant I370I 1110C>T SKCM-US 1 45474336 45474336 single base substitution G A upstream_gene_variant SKCM-US 1 45475742 45475742 single base substitution G T missense_variant F225L 675C>A SKCM-US 1 45475742 45475742 single base substitution G T upstream_gene_variant SKCM-US 1 45476265 45476265 single base substitution G A synonymous_variant L161L 483C>T SKCM-US 1 45476265 45476265 single base substitution G A upstream_gene_variant SKCM-US 1 45478860 45478860 single base substitution T G upstream_gene_variant STAD-US 1 45470328 45470328 single base substitution G A downstream_gene_variant STAD-US 1 45470328 45470328 single base substitution G A exon_variant STAD-US 1 45470328 45470328 single base substitution G A missense_variant R306C 916C>T STAD-US 1 45470328 45470328 single base substitution G A missense_variant R696C 2086C>T STAD-US 1 45470426 45470426 single base substitution T A downstream_gene_variant STAD-US 1 45470426 45470426 single base substitution T A exon_variant STAD-US 1 45470426 45470426 single base substitution T A missense_variant K273M 818A>T STAD-US 1 45470426 45470426 single base substitution T A missense_variant K663M 1988A>T STAD-US 1 45472378 45472378 single base substitution G A exon_variant STAD-US 1 45472378 45472378 single base substitution G A missense_variant R181C 541C>T STAD-US 1 45472378 45472378 single base substitution G A missense_variant R571C 1711C>T STAD-US 1 45472378 45472378 single base substitution G A upstream_gene_variant STAD-US 1 45473119 45473119 single base substitution C T missense_variant R100Q 299G>A STAD-US 1 45473119 45473119 single base substitution C T missense_variant R490Q 1469G>A STAD-US 1 45473119 45473119 single base substitution C T upstream_gene_variant STAD-US 1 45473239 45473239 single base substitution C T missense_variant R450H 1349G>A STAD-US 1 45473239 45473239 single base substitution C T missense_variant R60H 179G>A STAD-US 1 45473239 45473239 single base substitution C T upstream_gene_variant STAD-US 1 45473964 45473964 single base substitution T C missense_variant H33R 98A>G STAD-US 1 45473964 45473964 single base substitution T C missense_variant H423R 1268A>G STAD-US 1 45473964 45473964 single base substitution T C upstream_gene_variant STAD-US 1 45474833 45474833 single base substitution C T missense_variant R352H 1055G>A STAD-US 1 45474833 45474833 single base substitution C T upstream_gene_variant STAD-US 1 45474846 45474846 single base substitution T A missense_variant I348F 1042A>T STAD-US 1 45474846 45474846 single base substitution T A upstream_gene_variant STAD-US 1 45476257 45476257 single base substitution T C missense_variant Q164R 491A>G STAD-US 1 45476257 45476257 single base substitution T C upstream_gene_variant STAD-US 1 45480642 45480642 single base substitution G T upstream_gene_variant THCA-SA 1 45476663 45476663 single base substitution G A synonymous_variant L89L 267C>T THCA-SA 1 45476663 45476663 single base substitution G A upstream_gene_variant UCEC-US 1 45469223 45469223 single base substitution G A downstream_gene_variant UCEC-US 1 45469223 45469223 single base substitution G A exon_variant UCEC-US 1 45469223 45469223 single base substitution G A missense_variant R453C 1357C>T UCEC-US 1 45469223 45469223 single base substitution G A missense_variant R843C 2527C>T UCEC-US 1 45469742 45469742 single base substitution G T downstream_gene_variant UCEC-US 1 45469742 45469742 single base substitution G T exon_variant UCEC-US 1 45469742 45469742 single base substitution G T missense_variant N389K 1167C>A UCEC-US 1 45469742 45469742 single base substitution G T missense_variant N779K 2337C>A UCEC-US 1 45469790 45469790 single base substitution G A downstream_gene_variant UCEC-US 1 45469790 45469790 single base substitution G A exon_variant UCEC-US 1 45469790 45469790 single base substitution G A synonymous_variant F373F 1119C>T UCEC-US 1 45469790 45469790 single base substitution G A synonymous_variant F763F 2289C>T UCEC-US 1 45469790 45469790 single base substitution G T downstream_gene_variant UCEC-US 1 45469790 45469790 single base substitution G T exon_variant UCEC-US 1 45469790 45469790 single base substitution G T missense_variant F373L 1119C>A UCEC-US 1 45469790 45469790 single base substitution G T missense_variant F763L 2289C>A UCEC-US 1 45471548 45471548 single base substitution G A downstream_gene_variant UCEC-US 1 45471548 45471548 single base substitution G A exon_variant UCEC-US 1 45471548 45471548 single base substitution G A missense_variant A228V 683C>T UCEC-US 1 45471548 45471548 single base substitution G A missense_variant A618V 1853C>T UCEC-US 1 45471548 45471548 single base substitution G A upstream_gene_variant UCEC-US 1 45471685 45471685 single base substitution C T downstream_gene_variant UCEC-US 1 45471685 45471685 single base substitution C T exon_variant UCEC-US 1 45471685 45471685 single base substitution C T missense_variant R220Q 659G>A UCEC-US 1 45471685 45471685 single base substitution C T missense_variant R610Q 1829G>A UCEC-US 1 45471685 45471685 single base substitution C T upstream_gene_variant UCEC-US 1 45471738 45471738 single base substitution G A downstream_gene_variant UCEC-US 1 45471738 45471738 single base substitution G A exon_variant UCEC-US 1 45471738 45471738 single base substitution G A synonymous_variant C202C 606C>T UCEC-US 1 45471738 45471738 single base substitution G A synonymous_variant C592C 1776C>T UCEC-US 1 45471738 45471738 single base substitution G A upstream_gene_variant UCEC-US 1 45472633 45472633 single base substitution G T exon_variant UCEC-US 1 45472633 45472633 single base substitution G T synonymous_variant I147I 441C>A UCEC-US 1 45472633 45472633 single base substitution G T synonymous_variant I537I 1611C>A UCEC-US 1 45472633 45472633 single base substitution G T upstream_gene_variant UCEC-US 1 45472677 45472677 single base substitution G A exon_variant UCEC-US 1 45472677 45472677 single base substitution G A missense_variant R133C 397C>T UCEC-US 1 45472677 45472677 single base substitution G A missense_variant R523C 1567C>T UCEC-US 1 45472677 45472677 single base substitution G A upstream_gene_variant UCEC-US 1 45474272 45474272 single base substitution G A stop_gained R392* 1174C>T UCEC-US 1 45474272 45474272 single base substitution G A upstream_gene_variant UCEC-US 1 45475700 45475700 single base substitution G A synonymous_variant S239S 717C>T UCEC-US 1 45475700 45475700 single base substitution G A upstream_gene_variant UCEC-US 1 45475763 45475763 single base substitution G A synonymous_variant C218C 654C>T UCEC-US 1 45475763 45475763 single base substitution G A upstream_gene_variant UCEC-US 1 45475775 45475775 single base substitution C A missense_variant W214C 642G>T UCEC-US 1 45475775 45475775 single base substitution C A upstream_gene_variant UCEC-US 1 45475780 45475780 single base substitution T C missense_variant T213A 637A>G UCEC-US 1 45475780 45475780 single base substitution T C upstream_gene_variant UCEC-US 1 45475781 45475781 single base substitution C T synonymous_variant P212P 636G>A UCEC-US 1 45475781 45475781 single base substitution C T upstream_gene_variant UCEC-US 1 45476234 45476234 single base substitution A G missense_variant Y172H 514T>C UCEC-US 1 45476234 45476234 single base substitution A G upstream_gene_variant UCEC-US 1 45479413 45479413 single base substitution C T upstream_gene_variant UCEC-US 1 45479419 45479419 single base substitution C T upstream_gene_variant UCEC-US 1 45481160 45481160 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SC_9028 COSM5559591 c.492G>T p.L164L Substitution - coding silent 1:45007572-45007572 - PTC-70C COSM4144021 c.267C>T p.L89L Substitution - coding silent 1:45010991-45010991 - TCGA-AP-A0LM-01 COSM910134 c.322C>T p.R108* Substitution - Nonsense 1:45008600-45008600 - TCGA-D1-A174-01 COSM396739 c.1567C>T p.R523C Substitution - Missense 1:45007005-45007005 - TCGA-46-3769-01 COSM681185 c.2468G>A p.C823Y Substitution - Missense 1:45003702-45003702 - TCGA-C5-A7UH-01 COSM4856767 c.1020G>A p.W340* Substitution - Nonsense 1:45005857-45005857 - S02065 COSM5672493 c.1497G>T p.E499D Substitution - Missense 1:45003935-45003935 - 26 COSM5216850 c.2359C>T p.R787C Substitution - Missense 1:45003925-45003925 - TCGA-EE-A2MJ-06 COSM3490200 c.258C>T p.I86I Substitution - coding silent 1:45008664-45008664 - TCGA-AP-A051-01 COSM910103 c.2337C>A p.N779K Substitution - Missense 1:45004070-45004070 - Pat_06_A COSM5846827 c.1762C>T p.P588S Substitution - Missense 1:45006080-45006080 - TCGA-AA-A00O-01 COSM278451 c.496C>T p.R166C Substitution - Missense 1:45007568-45007568 - 2492700 COSM5715682 c.760G>A p.E254K Substitution - Missense 1:45009683-45009683 - TCGA-AP-A056-01 COSM910128 c.759C>A p.I253I Substitution - coding silent 1:45006961-45006961 - TCGA-BR-4370-01 COSM4008459 c.2086C>T p.R696C Substitution - Missense 1:45004656-45004656 - ESO14T COSM1172152 c.2290G>A p.E764K Substitution - Missense 1:45004117-45004117 - MOLT-4 COSM1667525 c.1705G>A p.D569N Substitution - Missense 1:45003521-45003521 - TCGA-BR-8589-01 COSM4008462 c.1988A>T p.K663M Substitution - Missense 1:45004754-45004754 - CSCC-5-T COSM4473322 c.1842C>T p.F614F Substitution - coding silent 1:45006000-45006000 - TCGA-61-1915-01 COSM1321038 c.2350G>T p.D784Y Substitution - Missense 1:45003934-45003934 - 2492723 COSM5719275 c.238C>T p.R80C Substitution - Missense 1:45008684-45008684 - TCGA-D1-A17B-01 COSM910125 c.859C>T p.R287C Substitution - Missense 1:45006706-45006706 - I2L-P19Tb-Tumor-Biopsy COSM5353053 c.217C>A p.L73M Substitution - Missense 1:45011041-45011041 - TCGA-EK-A3GK-01 COSM4853636 c.2281G>C p.E761Q Substitution - Missense 1:45004126-45004126 - TCGA-B5-A0JY-01 COSM910106 c.2289C>T p.F763F Substitution - coding silent 1:45004118-45004118 - TCGA-BR-4368-01 COSM4008471 c.1268A>G p.H423R Substitution - Missense 1:45008292-45008292 - TCGA-CC-A5UE-01 COSM2172076 c.2379G>A p.T793T Substitution - coding silent 1:45003905-45003905 - TCGA-DA-A1IA-06 COSM3490187 c.2090C>T p.S697F Substitution - Missense 1:45004652-45004652 - TCGA-AM-5821-01 COSM3751248 c.2370C>T p.R790R Substitution - coding silent 1:45003914-45003914 - S02065 COSM5672492 c.2349G>T p.E783D Substitution - Missense 1:45003935-45003935 - TCGA-46-3769-01 COSM681186 c.1616G>A p.C539Y Substitution - Missense 1:45003702-45003702 - TCGA-FS-A1ZK-06 COSM3490202 c.483C>T p.L161L Substitution - coding silent 1:45010593-45010593 - H838 COSM1193222 c.380C>G p.A127G Substitution - Missense 1:45010696-45010696 - TCGA-AG-A002-01 COSM289691 c.396C>T p.D132D Substitution - coding silent 1:45010680-45010680 - TCGA-EK-A3GK-01 COSM4852902 c.1957G>C p.E653Q Substitution - Missense 1:45004785-45004785 - ESCC_160 COSM5647226 c.735G>C p.E245D Substitution - Missense 1:45010010-45010010 - TCGA-BR-4368-01 COSM4008472 c.416A>G p.H139R Substitution - Missense 1:45008292-45008292 - 8057646 COSM4135621 c.1700C>T p.A567V Substitution - Missense 1:45003526-45003526 - TCGA-F1-A448-01 COSM4008468 c.1349G>A p.R450H Substitution - Missense 1:45007567-45007567 - LP6005500-DNA_B01 COSM4409867 c.1264C>G p.L422V Substitution - Missense 1:45008296-45008296 - TCGA-JW-A5VL-01 COSM4847225 c.1073-1G>A p.? Unknown 1:45008702-45008702 - TCGA-BS-A0UV-01 COSM910106 c.2289C>T p.F763F Substitution - coding silent 1:45004118-45004118 - CSCC-55-T COSM4481894 c.2556C>T p.I852I Substitution - coding silent 1:45003522-45003522 - 587354 COSM1209486 c.949A>G p.I317V Substitution - Missense 1:45006041-45006041 - TCGA-BR-4256-01 COSM189242 c.203G>A p.R68H Substitution - Missense 1:45009161-45009161 - TCGA-G2-A2EO-01 COSM1296492 c.685G>A p.E229K Substitution - Missense 1:45007238-45007238 - LUAD_E00565 COSM388836 c.1543C>T p.P515S Substitution - Missense 1:45007232-45007232 - KPOPBR-57-T COSM4856767 c.1020G>A p.W340* Substitution - Nonsense 1:45005857-45005857 - TCGA-AX-A0J1-01 COSM910136 c.654C>T p.C218C Substitution - coding silent 1:45010091-45010091 - TCGA-CC-A5UE-01 COSM2172077 c.1527G>A p.T509T Substitution - coding silent 1:45003905-45003905 - TCGA-BR-8589-01 COSM4008463 c.1136A>T p.K379M Substitution - Missense 1:45004754-45004754 - DLD1 COSM4622979 c.145A>G p.I49V Substitution - Missense 1:45009219-45009219 - T2969 COSM4689914 c.196G>A p.E66K Substitution - Missense 1:45009168-45009168 - TCGA-BG-A0MQ-01 COSM910112 c.1853C>T p.A618V Substitution - Missense 1:45005876-45005876 - 2492721 COSM5719274 c.1090C>T p.R364C Substitution - Missense 1:45008684-45008684 - TCGA-DK-A3WX-01 COSM3790074 c.6G>A p.K2K Substitution - coding silent 1:45009585-45009585 - NB2181 COSM5703079 c.1216C>T p.R406C Substitution - Missense 1:45008558-45008558 - SNUH_G06_S1 COSM3997544 c.1425C>T p.Y475Y Substitution - coding silent 1:45007491-45007491 - TCGA-DA-A1IA-06 COSM3490188 c.1238C>T p.S413F Substitution - Missense 1:45004652-45004652 - I2L-P19Ta-Tumor-Biopsy COSM5352794 c.244C>T p.R82* Substitution - Nonsense 1:45008678-45008678 - SNU-175 COSM2172136 c.332G>A p.R111H Substitution - Missense 1:45008590-45008590 - TCGA-EK-A3GK-01 COSM4852981 c.2242G>C p.E748Q Substitution - Missense 1:45004278-45004278 - PTC-7C COSM4144018 c.2126A>C p.E709A Substitution - Missense 1:45004616-45004616 - PT23_1 COSM5902477 c.1358C>T p.P453L Substitution - Missense 1:45007558-45007558 - GC8_T COSM146494 c.1601C>T p.P534L Substitution - Missense 1:45003717-45003717 - TCGA-BR-4361-01 COSM910124 c.1711C>T p.R571C Substitution - Missense 1:45006706-45006706 - 8069314 COSM4407506 c.479A>C p.H160P Substitution - Missense 1:45010597-45010597 - T36 COSM4689904 c.2038G>A p.V680M Substitution - Missense 1:45004704-45004704 - TCGA-CJ-5686-01 COSM464677 c.554G>T p.S185I Substitution - Missense 1:45007510-45007510 - TCGA-F5-6812-01 COSM1560594 c.764A>C p.E255A Substitution - Missense 1:45009679-45009679 - TCGA-F1-A448-01 COSM4008469 c.497G>A p.R166H Substitution - Missense 1:45007567-45007567 - TCGA-EK-A3GK-01 COSM4852982 c.1390G>C p.E464Q Substitution - Missense 1:45004278-45004278 - PTC-515C COSM4144015 c.2389C>A p.R797S Substitution - Missense 1:45003895-45003895 - PD4939a COSM161496 c.1516C>T p.R506C Substitution - Missense 1:45003916-45003916 - TCGA-AD-6895-01 COSM1343025 c.928G>A p.D310N Substitution - Missense 1:45006062-45006062 - SNU-175 COSM2172135 c.1184G>A p.R395H Substitution - Missense 1:45008590-45008590 - MO_1040 COSM5561823 c.588G>A p.P196P Substitution - coding silent 1:45010236-45010236 - TCGA-AX-A06H-01 COSM910119 c.924C>T p.C308C Substitution - coding silent 1:45006066-45006066 - TCGA-EE-A2GC-06 COSM3490184 c.2484C>T p.F828F Substitution - coding silent 1:45003686-45003686 - TCGA-A2-A0T5-01 COSM3805392 c.542T>G p.V181G Substitution - Missense 1:45010282-45010282 - LUAD-RT-S01721 COSM380244 c.1676G>T p.R559L Substitution - Missense 1:45003550-45003550 - TCGA-BR-6452-01 COSM4008475 c.190A>T p.I64F Substitution - Missense 1:45009174-45009174 - TCGA-AP-A051-01 COSM910137 c.642G>T p.W214C Substitution - Missense 1:45010103-45010103 - LUAD-E00443 COSM363562 c.601_602CG>TT p.R201>? Complex 1:45007462-45007463 - TCGA-B0-4710-01 COSM464674 c.1081C>A p.L361M Substitution - Missense 1:45005796-45005796 - PCSI_0588_Pa_P_526 COSM5761617 c.392G>A p.G131D Substitution - Missense 1:45010684-45010684 - KPOPBR-57-T COSM4856766 c.1872G>A p.W624* Substitution - Nonsense 1:45005857-45005857 - SC_9047 COSM5571814 c.2178A>G p.V726V Substitution - coding silent 1:45004342-45004342 - 8016470 COSM3386201 c.975C>T p.D325D Substitution - coding silent 1:45009383-45009383 - TCGA-EE-A2GC-06 COSM3490185 c.1632C>T p.F544F Substitution - coding silent 1:45003686-45003686 - TCGA-AM-5821-01 COSM3751249 c.1518C>T p.R506R Substitution - coding silent 1:45003914-45003914 - TCGA-61-1915-01 COSM1321039 c.1498G>T p.D500Y Substitution - Missense 1:45003934-45003934 - I2L-P7-Tumor-Organoid COSM2172113 c.838G>A p.V280M Substitution - Missense 1:45006727-45006727 - BD124T COSM5491111 c.1015C>T p.L339L Substitution - coding silent 1:45009201-45009201 - 587354 COSM1209485 c.1801A>G p.I601V Substitution - Missense 1:45006041-45006041 - C547 COSM2172131 c.403G>A p.D135N Substitution - Missense 1:45008305-45008305 - T3080 COSM4689915 c.600C>T p.Y200Y Substitution - coding silent 1:45010224-45010224 - TCGA-A8-A09Q-01 COSM426351 c.1594T>G p.F532V Substitution - Missense 1:45006978-45006978 - ESCC_13 COSM3490188 c.1238C>T p.S413F Substitution - Missense 1:45004652-45004652 - 2492703 COSM5715682 c.760G>A p.E254K Substitution - Missense 1:45009683-45009683 - T2969 COSM4689913 c.1048G>A p.E350K Substitution - Missense 1:45009168-45009168 - MOLT-4 COSM1667524 c.2557G>A p.D853N Substitution - Missense 1:45003521-45003521 - CSCC-54-T COSM4516361 c.984_985GG>AA p.E329K Substitution - Missense 1:45006005-45006006 - 631056 COSM320791 c.547G>T p.D183Y Substitution - Missense 1:45010277-45010277 - LUAD-B01970 COSM355926 c.1359A>C p.Q453H Substitution - Missense 1:45004309-45004309 - Pat_06_A COSM5846828 c.910C>T p.P304S Substitution - Missense 1:45006080-45006080 - ESCC_BICR_050T COSM5440026 c.2384G>A p.R795H Substitution - Missense 1:45003900-45003900 - TCGA-D1-A174-01 COSM396740 c.715C>T p.R239C Substitution - Missense 1:45007005-45007005 - 8016470 COSM3386202 c.123C>T p.D41D Substitution - coding silent 1:45009383-45009383 - CSCC-54-T COSM4516360 c.1836_1837GG>AA p.E613K Substitution - Missense 1:45006005-45006006 - TCGA-EE-A2MJ-06 COSM3490199 c.1110C>T p.I370I Substitution - coding silent 1:45008664-45008664 - HCC56T COSM1602463 c.1125G>T p.T375T Substitution - coding silent 1:45004765-45004765 - T3262 COSM4689907 c.1803C>T p.I601I Substitution - coding silent 1:45006039-45006039 - TCGA-EJ-7328-01 COSM1470206 c.857T>G p.V286G Substitution - Missense 1:45006708-45006708 - 2492720 COSM5719274 c.1090C>T p.R364C Substitution - Missense 1:45008684-45008684 - HCC56 COSM1602462 c.1977G>T p.T659T Substitution - coding silent 1:45004765-45004765 - TCGA-AP-A056-01 COSM910127 c.1611C>A p.I537I Substitution - coding silent 1:45006961-45006961 - TCGA-61-2101-01 COSM71037 c.770A>G p.N257S Substitution - Missense 1:45009673-45009673 - TCGA-EJ-7328-01 COSM1470205 c.1709T>G p.V570G Substitution - Missense 1:45006708-45006708 - PTC-7C COSM4144019 c.1274A>C p.E425A Substitution - Missense 1:45004616-45004616 - TCGA-A2-A0T5-01 COSM3805393 c.532T>G p.W178G Substitution - Missense 1:45010292-45010292 - ESO14T COSM1172153 c.1438G>A p.E480K Substitution - Missense 1:45004117-45004117 - TCGA-BS-A0UV-01 COSM910107 c.1437C>T p.F479F Substitution - coding silent 1:45004118-45004118 - 8057646 COSM4135620 c.2552C>T p.A851V Substitution - Missense 1:45003526-45003526 - HCC56T COSM1602462 c.1977G>T p.T659T Substitution - coding silent 1:45004765-45004765 - LUAD-RT-S01721 COSM380243 c.2528G>T p.R843L Substitution - Missense 1:45003550-45003550 - TCGA-JW-A5VL-01 COSM4847226 c.221-1G>A p.? Unknown 1:45008702-45008702 - PR-00-1165 COSM244885 c.314G>A p.S105N Substitution - Missense 1:45008608-45008608 - 8068044 COSM4388089 c.112G>T p.A38S Substitution - Missense 1:45011146-45011146 - I2L-P19Tb-Tumor-Organoid COSM5353053 c.217C>A p.L73M Substitution - Missense 1:45011041-45011041 - TCGA-AP-A051-01 COSM910104 c.1485C>A p.N495K Substitution - Missense 1:45004070-45004070 - TCGA-BR-4370-01 COSM4008460 c.1234C>T p.R412C Substitution - Missense 1:45004656-45004656 - 2492701 COSM5715682 c.760G>A p.E254K Substitution - Missense 1:45009683-45009683 - DLD1 COSM4622978 c.997A>G p.I333V Substitution - Missense 1:45009219-45009219 - PT23_1 COSM5902478 c.506C>T p.P169L Substitution - Missense 1:45007558-45007558 - LUAD-S01341 COSM396739 c.1567C>T p.R523C Substitution - Missense 1:45007005-45007005 - TCGA-EB-A3XC-01 COSM3490191 c.1134C>T p.F378F Substitution - coding silent 1:45004756-45004756 - UMC11 COSM2172152 c.658G>A p.E220K Substitution - Missense 1:45010087-45010087 - TCGA-BS-A0UF-01 COSM910109 c.2289C>A p.F763L Substitution - Missense 1:45004118-45004118 - BHY COSM2172080 c.1453C>T p.R485W Substitution - Missense 1:45004102-45004102 - TCGA-EB-A3XC-01 COSM3490193 c.1984T>G p.F662V Substitution - Missense 1:45004758-45004758 - TCGA-EK-A3GK-01 COSM4852903 c.1105G>C p.E369Q Substitution - Missense 1:45004785-45004785 - TCGA-EE-A2MR-06 COSM3490201 c.675C>A p.F225L Substitution - Missense 1:45010070-45010070 - DN11006 COSM5963193 c.205G>T p.E69* Substitution - Nonsense 1:45011053-45011053 - SC_9092 COSM910136 c.654C>T p.C218C Substitution - coding silent 1:45010091-45010091 - 2492723 COSM5719274 c.1090C>T p.R364C Substitution - Missense 1:45008684-45008684 - MD-279 COSM302358 c.2390G>T p.R797L Substitution - Missense 1:45003894-45003894 - I2L-P19Ta-Tumor-Organoid COSM5352793 c.1096C>T p.R366* Substitution - Nonsense 1:45008678-45008678 - TCGA-DK-A3WX-01 COSM3790073 c.858G>A p.K286K Substitution - coding silent 1:45009585-45009585 - TCGA-AX-A0J1-01 COSM910135 c.717C>T p.S239S Substitution - coding silent 1:45010028-45010028 - HRA19 COSM4637711 c.2189T>C p.V730A Substitution - Missense 1:45004331-45004331 - SC_9047 COSM5571815 c.1326A>G p.V442V Substitution - coding silent 1:45004342-45004342 - 2492722 COSM5719275 c.238C>T p.R80C Substitution - Missense 1:45008684-45008684 - TCGA-A5-A0VP-01 COSM910115 c.1829G>A p.R610Q Substitution - Missense 1:45006013-45006013 - HRA19 COSM4637712 c.1337T>C p.V446A Substitution - Missense 1:45004331-45004331 - B66 COSM1748475 c.565C>T p.R189C Substitution - Missense 1:45010259-45010259 - TCGA-EK-A3GK-01 COSM4853546 c.2355G>A p.R785R Substitution - coding silent 1:45003929-45003929 - TCGA-EB-A3XC-01 COSM3490190 c.1986C>T p.F662F Substitution - coding silent 1:45004756-45004756 - 2492722 COSM5719274 c.1090C>T p.R364C Substitution - Missense 1:45008684-45008684 - TCGA-G2-A2EO-01 COSM1296491 c.1537G>A p.E513K Substitution - Missense 1:45007238-45007238 - TCGA-BS-A0UF-01 COSM910110 c.1437C>A p.F479L Substitution - Missense 1:45004118-45004118 - PTC-515C COSM4144016 c.1537C>A p.R513S Substitution - Missense 1:45003895-45003895 - TCGA-EK-A2RB-01 COSM910106 c.2289C>T p.F763F Substitution - coding silent 1:45004118-45004118 - VACO10 COSM4656868 c.917C>T p.P306L Substitution - Missense 1:45006073-45006073 - S01501 COSM4387182 c.1627C>G p.L543V Substitution - Missense 1:45003691-45003691 - VLTS-5 COSM5702725 c.1320G>T p.K440N Substitution - Missense 1:45008240-45008240 - PT52 COSM5938672 c.1291-5C>T p.? Unknown 1:45004382-45004382 - TCGA-AG-A002-01 COSM261249 c.2447C>T p.A816V Substitution - Missense 1:45003723-45003723 - ESCC_13 COSM3490187 c.2090C>T p.S697F Substitution - Missense 1:45004652-45004652 - 2492702 COSM5715682 c.760G>A p.E254K Substitution - Missense 1:45009683-45009683 - B22 COSM1748476 c.443G>A p.G148D Substitution - Missense 1:45010633-45010633 - TCGA-AA-3713-01 COSM1343028 c.837delC p.V280fs*41 Deletion - Frameshift 1:45006728-45006728 - 046T COSM1729704 c.1366G>T p.V456L Substitution - Missense 1:45007550-45007550 - TCGA-AM-5821-01 COSM3751245 c.2574T>A p.P858P Substitution - coding silent 1:45003504-45003504 - LUAD-S01341 COSM396740 c.715C>T p.R239C Substitution - Missense 1:45007005-45007005 - TCGA-66-2754-01 COSM681182 c.2443G>A p.D815N Substitution - Missense 1:45003727-45003727 - TCGA-A8-A09Q-01 COSM426352 c.742T>G p.F248V Substitution - Missense 1:45006978-45006978 - TCGA-B5-A11E-01 COSM910138 c.637A>G p.T213A Substitution - Missense 1:45010108-45010108 - 2492720 COSM5719275 c.238C>T p.R80C Substitution - Missense 1:45008684-45008684 - TCGA-A5-A0G9-01 COSM910131 c.565C>T p.R189C Substitution - Missense 1:45007499-45007499 - 26 COSM5216851 c.1507C>T p.R503C Substitution - Missense 1:45003925-45003925 - TCGA-B0-4710-01 COSM464673 c.1933C>A p.L645M Substitution - Missense 1:45005796-45005796 - ESCC_BICR_050T COSM5440027 c.1532G>A p.R511H Substitution - Missense 1:45003900-45003900 - TCGA-AA-3713-01 COSM1343027 c.1689delC p.V564fs*41 Deletion - Frameshift 1:45006728-45006728 - PR-00-1165 COSM244886 c.1166G>A p.S389N Substitution - Missense 1:45008608-45008608 - TCGA-AG-A002-01 COSM261248 c.1595C>T p.A532V Substitution - Missense 1:45003723-45003723 - TCGA-AM-5821-01 COSM3751246 c.1722T>A p.P574P Substitution - coding silent 1:45003504-45003504 - TCGA-66-2754-01 COSM681183 c.1591G>A p.D531N Substitution - Missense 1:45003727-45003727 - LUAD-B01970 COSM355925 c.2211A>C p.Q737H Substitution - Missense 1:45004309-45004309 - 046T COSM1729705 c.514G>T p.V172L Substitution - Missense 1:45007550-45007550 - TCGA-EK-A3GK-01 COSM4853893 c.2022G>A p.L674L Substitution - coding silent 1:45004720-45004720 - TCGA-EK-A3GK-01 COSM4853547 c.1503G>A p.R501R Substitution - coding silent 1:45003929-45003929 - LUAD_E00565 COSM388837 c.691C>T p.P231S Substitution - Missense 1:45007232-45007232 - TCGA-BP-4964-01 COSM464679 c.276C>G p.A92A Substitution - coding silent 1:45010982-45010982 - T3021 COSM4689910 c.1453C>T p.R485C Substitution - Missense 1:45007463-45007463 - MD-279 COSM302357 c.1538G>T p.R513L Substitution - Missense 1:45003894-45003894 - TCGA-FS-A1ZP-06 COSM3490197 c.849C>T p.P283P Substitution - coding silent 1:45006716-45006716 - PT36 COSM5914651 c.138-6C>T p.? Unknown 1:45009232-45009232 - VLTS-5 COSM5702726 c.468G>T p.K156N Substitution - Missense 1:45008240-45008240 - TCGA-AX-A06H-01 COSM910118 c.1776C>T p.C592C Substitution - coding silent 1:45006066-45006066 - CSCC-5-T COSM4473323 c.990C>T p.F330F Substitution - coding silent 1:45006000-45006000 - GC8_T COSM146495 c.2453C>T p.P818L Substitution - Missense 1:45003717-45003717 - TCGA-G9-6351-01 COSM535491 c.97G>T p.G33W Substitution - Missense 1:45009409-45009409 - T3021 COSM4689911 c.601C>T p.R201C Substitution - Missense 1:45007463-45007463 - LUAD-74TBW COSM390965 c.750delC p.S251fs*11 Deletion - Frameshift 1:45009995-45009995 - TCGA-A5-A0VP-01 COSM910116 c.977G>A p.R326Q Substitution - Missense 1:45006013-45006013 - TCGA-EK-A3GK-01 COSM4853894 c.1170G>A p.L390L Substitution - coding silent 1:45004720-45004720 - TCGA-EK-A3GK-01 COSM4853637 c.1429G>C p.E477Q Substitution - Missense 1:45004126-45004126 - TCGA-AP-A054-01 COSM910139 c.636G>A p.P212P Substitution - coding silent 1:45010109-45010109 - CSCC-55-T COSM4481895 c.1704C>T p.I568I Substitution - coding silent 1:45003522-45003522 - VACO10 COSM4656867 c.1769C>T p.P590L Substitution - Missense 1:45006073-45006073 - OSCC-GB_01060111 COSM4882896 c.797C>A p.A266D Substitution - Missense 1:45009646-45009646 - I2L-P19Ta-Tumor-Biopsy COSM5352793 c.1096C>T p.R366* Substitution - Nonsense 1:45008678-45008678 - TCGA-AD-6895-01 COSM1343024 c.1780G>A p.D594N Substitution - Missense 1:45006062-45006062 - 2492721 COSM5719275 c.238C>T p.R80C Substitution - Missense 1:45008684-45008684 - S01501 COSM4387181 c.2479C>G p.L827V Substitution - Missense 1:45003691-45003691 - BD124T COSM5491112 c.163C>T p.L55L Substitution - coding silent 1:45009201-45009201 - TCGA-CG-4305-01 COSM4008465 c.1469G>A p.R490Q Substitution - Missense 1:45007447-45007447 - TCGA-EK-A2RB-01 COSM910107 c.1437C>T p.F479F Substitution - coding silent 1:45004118-45004118 - 585223 COSM320790 c.740T>C p.I247T Substitution - Missense 1:45010005-45010005 - I2L-P19Ta-Tumor-Organoid COSM5352794 c.244C>T p.R82* Substitution - Nonsense 1:45008678-45008678 - T3262 COSM4689908 c.951C>T p.I317I Substitution - coding silent 1:45006039-45006039 - 587228 COSM1209483 c.1183C>T p.R395C Substitution - Missense 1:45008591-45008591 - TCGA-EB-A3XC-01 COSM3490194 c.1132T>G p.F378V Substitution - Missense 1:45004758-45004758 - HCC56 COSM1602463 c.1125G>T p.T375T Substitution - coding silent 1:45004765-45004765 - LUAD-E00443 COSM363561 c.1453_1454CG>TT p.R485>? Complex 1:45007462-45007463 - TCGA-CJ-5686-01 COSM464676 c.1406G>T p.S469I Substitution - Missense 1:45007510-45007510 - PD4939a COSM161497 c.2368C>T p.R790C Substitution - Missense 1:45003916-45003916 - 169 COSM3729852 c.559_562delTCAC p.S187fs*35 Deletion - Frameshift 1:45010262-45010265 - C547 COSM2172130 c.1255G>A p.D419N Substitution - Missense 1:45008305-45008305 - T36 COSM4689905 c.1186G>A p.V396M Substitution - Missense 1:45004704-45004704 - SNUH_G06_S1 COSM3997545 c.573C>T p.Y191Y Substitution - coding silent 1:45007491-45007491 - TCGA-CG-5726-01 COSM4008476 c.491A>G p.Q164R Substitution - Missense 1:45010585-45010585 - TCGA-BR-6452-01 COSM4008474 c.1042A>T p.I348F Substitution - Missense 1:45009174-45009174 - TCGA-B5-A0JY-01 COSM910107 c.1437C>T p.F479F Substitution - coding silent 1:45004118-45004118 - TCGA-BR-4361-01 COSM910125 c.859C>T p.R287C Substitution - Missense 1:45006706-45006706 - 587228 COSM1209484 c.331C>T p.R111C Substitution - Missense 1:45008591-45008591 - I2L-P7-Tumor-Organoid COSM2172112 c.1690G>A p.V564M Substitution - Missense 1:45006727-45006727 - TCGA-AP-A0LM-01 COSM910133 c.1174C>T p.R392* Substitution - Nonsense 1:45008600-45008600 - PT52 COSM5938671 c.2143-5C>T p.? Unknown 1:45004382-45004382 - TCGA-B5-A11Y-01 COSM910100 c.2527C>T p.R843C Substitution - Missense 1:45003551-45003551 - CSCC-40-T COSM4449332 c.2057delG p.G686fs*23 Deletion - Frameshift 1:45004685-45004685 - BHY COSM2172079 c.2305C>T p.R769W Substitution - Missense 1:45004102-45004102 - TCGA-C5-A7UH-01 COSM4856766 c.1872G>A p.W624* Substitution - Nonsense 1:45005857-45005857 - PT36 COSM5914650 c.990-6C>T p.? Unknown 1:45009232-45009232 - TCGA-AP-A0LM-01 COSM910140 c.514T>C p.Y172H Substitution - Missense 1:45010562-45010562 - ESO-0029 COSM1254067 c.363G>A p.L121L Substitution - coding silent 1:45010895-45010895 - TCGA-G9-6351-01 COSM535490 c.949G>T p.G317W Substitution - Missense 1:45009409-45009409 - TCGA-CG-4305-01 COSM4008466 c.617G>A p.R206Q Substitution - Missense 1:45007447-45007447 - TCGA-BR-4256-01 COSM189243 c.1055G>A p.R352H Substitution - Missense 1:45009161-45009161 - B66-Tumor COSM1748475 c.565C>T p.R189C Substitution - Missense 1:45010259-45010259 - B22-Tumor COSM1748476 c.443G>A p.G148D Substitution - Missense 1:45010633-45010633 - CSCC-40-T COSM4449333 c.1205delG p.G402fs*23 Deletion - Frameshift 1:45004685-45004685 - TCGA-AA-A00O-01 COSM278452 c.1348C>T p.R450C Substitution - Missense 1:45007568-45007568 - TCGA-AP-A0LT-01 COSM910122 c.884C>T p.T295I Substitution - Missense 1:45006106-45006106 - sysucc-311T COSM910136 c.654C>T p.C218C Substitution - coding silent 1:45010091-45010091 - NB2181 COSM5703080 c.364C>T p.R122C Substitution - Missense 1:45008558-45008558 - RMS111_ COSM1193222 c.380C>G p.A127G Substitution - Missense 1:45010696-45010696 - TCGA-FS-A1ZP-06 COSM3490196 c.1701C>T p.P567P Substitution - coding silent 1:45006716-45006716 - 2492729 COSM5729660 c.484C>T p.Q162* Substitution - Nonsense 1:45010592-45010592 - OSCC-GB_00610111 COSM4886716 c.418C>A p.L140M Substitution - Missense 1:45010658-45010658 - TCGA-BG-A0MQ-01 COSM910113 c.1001C>T p.A334V Substitution - Missense 1:45005876-45005876 - TCGA-B5-A11Y-01 COSM910101 c.1675C>T p.R559C Substitution - Missense 1:45003551-45003551 - SC_9028 COSM5559590 c.1344G>T p.L448L Substitution - coding silent 1:45007572-45007572 - LP6005500-DNA_B01 COSM4409868 c.412C>G p.L138V Substitution - Missense 1:45008296-45008296 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.525084 1p34.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F532V c.1594T>G 1 45472650 BRCA A C Missense p.V570G c.1709T>G 1 45472380 PRAD A G Missense p.I247T c.740T>C 1 45475677 SCLC A G Missense p.Y832H c.2494T>C 1 45469348 LUAD A T Missense p.M718K c.2153T>A 1 45470039 LUAD C A Missense p.D183Y c.547G>T 1 45475949 SCLC C A Missense p.E97D c.291G>T 1 45476639 LUAD C A Missense p.K636N c.1908G>T 1 45471493 LUAD C A Missense p.R309L c.926G>T 1 45475104 CM C A Missense p.S469I c.1406G>T 1 45473182 RCCC C A Synonymous p.A146A c.438G>T 1 45476310 LUAD C T Missense p.A201T c.601G>A 1 45475895 COREAD C T Missense p.C823Y c.2468G>A 1 45469374 LUSC C T Missense p.D815N c.2443G>A 1 45469399 LUSC C T Missense p.E513K c.1537G>A 1 45472910 BLCA C T Missense p.R352H c.1055G>A 1 45474833 STAD C T Missense p.R490Q c.1469G>A 1 45473119 STAD C T Missense p.R610Q c.1829G>A 1 45471685 UCEC C T Synonymous p.L121L c.363G>A 1 45476567 ESCA C T Synonymous p.L380L c.1140G>A 1 45474306 MM C T Synonymous p.P212P c.636G>A 1 45475781 UCEC G A Missense p.A618V c.1853C>T 1 45471548 UCEC G A Missense p.R450C c.1348C>T 1 45473240 COREAD G A Missense p.R523C c.1567C>T 1 45472677 UCEC G A Missense p.R696C c.2086C>T 1 45470328 STAD G A Missense p.R790C c.2368C>T 1 45469588 BRCA G A Missense p.R843C c.2527C>T 1 45469223 UCEC G A Missense p.S697F c.2090C>T 1 45470324 CM G A Synonymous p.C592C c.1776C>T 1 45471738 UCEC G A Synonymous p.F828F c.2484C>T 1 45469358 CM G A Synonymous p.L161L c.483C>T 1 45476265 CM G A Synonymous p.P567P c.1701C>T 1 45472388 CM G C IntronicSNV . c.1936-40C>G 1 45470518 ESCA G C Synonymous p.A92A c.276C>G 1 45476654 RCCC GG AA Synonymous p.(=) c.687_688delinsTT 1 45475729 CM GG TA Missense p.L320M c.957_958delinsTA 1 45475072 CM G T Missense p.L645M c.1933C>A 1 45471468 RCCC T A Missense p.K724M c.2171A>T 1 45470021 LUAD T A Synonymous p.A534A c.1602A>T 1 45472642 HNSC T C Missense p.H423R c.1268A>G 1 45473964 STAD T C Missense p.N257S c.770A>G 1 45475345 OV T C Missense p.Q164R c.491A>G 1 45476257 STAD T C Missense p.T213A c.637A>G 1 45475780 HNSC T C Missense p.Y313C c.938A>G 1 45475092 BRCA