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 11 118242356 118242356 + Missense_Mutation SNP C C G TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr11:118242356C>G c.536C>G c.(535-537)tCc>tGc p.S179C BLCA 11 118243303 118243303 + Missense_Mutation SNP C C T TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr11:118243303C>T c.643C>T c.(643-645)Ctc>Ttc p.L215F BLCA 11 118244373 118244373 + Missense_Mutation SNP C C G TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr11:118244373C>G c.1110C>G c.(1108-1110)atC>atG p.I370M BLCA 11 118245669 118245669 + Missense_Mutation SNP C C T TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr11:118245669C>T c.1196C>T c.(1195-1197)tCt>tTt p.S399F BLCA 11 118245786 118245786 + Nonsense_Mutation SNP C C G TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr11:118245786C>G c.1313C>G c.(1312-1314)tCa>tGa p.S438* BLCA 11 118245802 118245802 + Silent SNP G G C TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr11:118245802G>C c.1329G>C c.(1327-1329)ctG>ctC p.L443L BLCA 11 118257251 118257251 + Missense_Mutation SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr11:118257251G>C c.2532G>C c.(2530-2532)caG>caC p.Q844H BLCA 11 118257262 118257262 + Missense_Mutation SNP A A G TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr11:118257262A>G c.2543A>G c.(2542-2544)cAg>cGg p.Q848R BLCA 11 118260495 118260495 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr11:118260495G>C c.2664G>C c.(2662-2664)ttG>ttC p.L888F BLCA 11 118261425 118261425 + Missense_Mutation SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr11:118261425C>G c.2843C>G c.(2842-2844)cCa>cGa p.P948R BLCA 11 118267074 118267074 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr11:118267074G>C c.3141G>C c.(3139-3141)caG>caC p.Q1047H BLCA 11 118267125 118267125 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr11:118267125G>C c.3192G>C c.(3190-3192)gaG>gaC p.E1064D BRCA 11 118239367 118239367 + Missense_Mutation SNP A A G TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 g.chr11:118239367A>G c.143A>G c.(142-144)gAt>gGt p.D48G BRCA 11 118239438 118239438 + Missense_Mutation SNP T T A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 g.chr11:118239438T>A c.214T>A c.(214-216)Ttc>Atc p.F72I BRCA 11 118242316 118242316 + Nonsense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr11:118242316C>T c.496C>T c.(496-498)Cga>Tga p.R166* BRCA 11 118245696 118245696 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr11:118245696C>G c.1223C>G c.(1222-1224)tCc>tGc p.S408C BRCA 11 118255404 118255404 + Missense_Mutation SNP T T G TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 g.chr11:118255404T>G c.2273T>G c.(2272-2274)aTc>aGc p.I758S BRCA 11 118255641 118255642 + Frame_Shift_Del DEL TT TT - TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr11:118255641_118255642delTT c.2414_2415delTT c.(2413-2415)cttfs p.L806fs BRCA 11 118257271 118257271 + Missense_Mutation SNP G G C TCGA-E2-A1LA-01A-11D-A142-09 TCGA-E2-A1LA-10A-01D-A142-09 g.chr11:118257271G>C c.2552G>C c.(2551-2553)cGt>cCt p.R851P CESC 11 118247314 118247314 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr11:118247314C>T c.1497C>T c.(1495-1497)atC>atT p.I499I CESC 11 118267042 118267042 + Missense_Mutation SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 g.chr11:118267042C>A c.3109C>A c.(3109-3111)Ccc>Acc p.P1037T CHOL 11 118263498 118263498 + Missense_Mutation SNP G G T TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr11:118263498G>T c.2983G>T c.(2983-2985)Gcc>Tcc p.A995S COAD 11 118242237 118242237 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:118242237C>T c.417C>T c.(415-417)ttC>ttT p.F139F COAD 11 118243292 118243292 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:118243292G>A c.632G>A c.(631-633)cGa>cAa p.R211Q COAD 11 118244287 118244287 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr11:118244287A>G c.1024A>G c.(1024-1026)Agt>Ggt p.S342G COAD 11 118245939 118245939 + Missense_Mutation SNP T T C TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr11:118245939T>C c.1466T>C c.(1465-1467)aTg>aCg p.M489T COAD 11 118247332 118247332 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr11:118247332G>A c.1515G>A c.(1513-1515)ccG>ccA p.P505P COAD 11 118250329 118250329 + Missense_Mutation SNP G G A TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr11:118250329G>A c.1761G>A c.(1759-1761)atG>atA p.M587I COAD 11 118252105 118252105 + Splice_Site SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:118252105G>A c.e12-1 COAD 11 118253321 118253321 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr11:118253321T>C c.2048T>C c.(2047-2049)cTg>cCg p.L683P COAD 11 118253371 118253371 + Missense_Mutation SNP C C A TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr11:118253371C>A c.2098C>A c.(2098-2100)Cag>Aag p.Q700K COAD 11 118255420 118255420 + Nonsense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr11:118255420G>A c.2289G>A c.(2287-2289)tgG>tgA p.W763* COAD 11 118255623 118255623 + Missense_Mutation SNP T T C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr11:118255623T>C c.2396T>C c.(2395-2397)aTg>aCg p.M799T COAD 11 118257211 118257211 + Missense_Mutation SNP T T C TCGA-AA-A00L-01A-01W-A005-10 TCGA-AA-A00L-10A-01W-A005-10 g.chr11:118257211T>C c.2492T>C c.(2491-2493)cTg>cCg p.L831P COAD 11 118261412 118261412 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr11:118261412C>T c.2830C>T c.(2830-2832)Cgt>Tgt p.R944C COAD 11 118261485 118261485 + Missense_Mutation SNP T T G TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr11:118261485T>G c.2903T>G c.(2902-2904)aTt>aGt p.I968S COAD 11 118263570 118263570 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:118263570G>T c.3055G>T c.(3055-3057)Gtc>Ttc p.V1019F COADREAD 11 118239408 118239408 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:118239408G>A c.184G>A c.(184-186)Gat>Aat p.D62N COADREAD 11 118242237 118242237 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:118242237C>T c.417C>T c.(415-417)ttC>ttT p.F139F COADREAD 11 118243292 118243292 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:118243292G>A c.632G>A c.(631-633)cGa>cAa p.R211Q COADREAD 11 118244287 118244287 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr11:118244287A>G c.1024A>G c.(1024-1026)Agt>Ggt p.S342G COADREAD 11 118245939 118245939 + Missense_Mutation SNP T T C TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr11:118245939T>C c.1466T>C c.(1465-1467)aTg>aCg p.M489T COADREAD 11 118247332 118247332 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr11:118247332G>A c.1515G>A c.(1513-1515)ccG>ccA p.P505P COADREAD 11 118250329 118250329 + Missense_Mutation SNP G G A TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr11:118250329G>A c.1761G>A c.(1759-1761)atG>atA p.M587I COADREAD 11 118252105 118252105 + Splice_Site SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:118252105G>A c.e12-1 COADREAD 11 118252107 118252107 + Splice_Site SNP A A T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:118252107A>T c.1899A>T c.(1897-1899)gaA>gaT p.E633D COADREAD 11 118253321 118253321 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr11:118253321T>C c.2048T>C c.(2047-2049)cTg>cCg p.L683P COADREAD 11 118253371 118253371 + Missense_Mutation SNP C C A TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr11:118253371C>A c.2098C>A c.(2098-2100)Cag>Aag p.Q700K COADREAD 11 118255420 118255420 + Nonsense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr11:118255420G>A c.2289G>A c.(2287-2289)tgG>tgA p.W763* COADREAD 11 118255623 118255623 + Missense_Mutation SNP T T C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr11:118255623T>C c.2396T>C c.(2395-2397)aTg>aCg p.M799T COADREAD 11 118257211 118257211 + Missense_Mutation SNP T T C TCGA-AA-A00L-01A-01W-A005-10 TCGA-AA-A00L-10A-01W-A005-10 g.chr11:118257211T>C c.2492T>C c.(2491-2493)cTg>cCg p.L831P COADREAD 11 118261412 118261412 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr11:118261412C>T c.2830C>T c.(2830-2832)Cgt>Tgt p.R944C COADREAD 11 118261485 118261485 + Missense_Mutation SNP T T G TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr11:118261485T>G c.2903T>G c.(2902-2904)aTt>aGt p.I968S COADREAD 11 118263570 118263570 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:118263570G>T c.3055G>T c.(3055-3057)Gtc>Ttc p.V1019F DLBC 11 118242324 118242324 + Silent SNP A A G TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr11:118242324A>G c.504A>G c.(502-504)gcA>gcG p.A168A DLBC 11 118253436 118253436 + Silent SNP T T C TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr11:118253436T>C c.2163T>C c.(2161-2163)taT>taC p.Y721Y GBM 11 118255613 118255613 + Missense_Mutation SNP A A T TCGA-76-6282-01A-11D-1696-08 TCGA-76-6282-10A-01D-1696-08 g.chr11:118255613A>T c.2386A>T c.(2386-2388)Aac>Tac p.N796Y GBMLGG 11 118235895 118235895 + Missense_Mutation SNP G G C TCGA-DH-A66D-01A-11D-A31L-08 TCGA-DH-A66D-10A-01D-A31J-08 g.chr11:118235895G>C c.100G>C c.(100-102)Gag>Cag p.E34Q GBMLGG 11 118239407 118239407 + Silent SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 g.chr11:118239407C>T c.183C>T c.(181-183)ttC>ttT p.F61F GBMLGG 11 118255613 118255613 + Missense_Mutation SNP A A T TCGA-76-6282-01A-11D-1696-08 TCGA-76-6282-10A-01D-1696-08 g.chr11:118255613A>T c.2386A>T c.(2386-2388)Aac>Tac p.N796Y HNSC 11 118235857 118235857 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr11:118235857C>G c.62C>G c.(61-63)tCc>tGc p.S21C HNSC 11 118239345 118239345 + Splice_Site SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr11:118239345G>C c.e3-1 HNSC 11 118243810 118243810 + Missense_Mutation SNP A A C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 g.chr11:118243810A>C c.752A>C c.(751-753)gAt>gCt p.D251A HNSC 11 118250276 118250276 + Nonsense_Mutation SNP C C T TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr11:118250276C>T c.1708C>T c.(1708-1710)Cga>Tga p.R570* HNSC 11 118253482 118253482 + Nonsense_Mutation SNP G G T TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr11:118253482G>T c.2209G>T c.(2209-2211)Gaa>Taa p.E737* HNSC 11 118260439 118260439 + Splice_Site SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 g.chr11:118260439G>A c.e17-1 HNSC 11 118263519 118263519 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 g.chr11:118263519C>T c.3004C>T c.(3004-3006)Ccc>Tcc p.P1002S HNSC 11 118263536 118263536 + Silent SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 g.chr11:118263536G>A c.3021G>A c.(3019-3021)ctG>ctA p.L1007L HNSC 11 118267058 118267058 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr11:118267058C>T c.3125C>T c.(3124-3126)cCc>cTc p.P1042L HNSC 11 118267059 118267059 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr11:118267059C>T c.3126C>T c.(3124-3126)ccC>ccT p.P1042P KIPAN 11 118243839 118243839 + Missense_Mutation SNP G G A TCGA-B9-7268-01A-11D-2136-08 TCGA-B9-7268-10A-01D-2136-08 g.chr11:118243839G>A c.781G>A c.(781-783)Gaa>Aaa p.E261K KIPAN 11 118250228 118250228 + Nonsense_Mutation SNP C C T TCGA-BQ-7051-01A-12D-1961-08 TCGA-BQ-7051-11A-02D-1961-08 g.chr11:118250228C>T c.1660C>T c.(1660-1662)Cag>Tag p.Q554* KIPAN 11 118250311 118250315 + Frame_Shift_Del DEL CATGA CATGA - TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr11:118250311_118250315delCATGA c.1743_1747delCATGA c.(1741-1749)gccatgacafs p.MT582fs KIPAN 11 118263549 118263549 + Missense_Mutation SNP G G C TCGA-CJ-4899-01A-01D-1462-08 TCGA-CJ-4899-11A-01D-1462-08 g.chr11:118263549G>C c.3034G>C c.(3034-3036)Gtg>Ctg p.V1012L KIRC 11 118263549 118263549 + Missense_Mutation SNP G G C TCGA-CJ-4899-01A-01D-1462-08 TCGA-CJ-4899-11A-01D-1462-08 g.chr11:118263549G>C c.3034G>C c.(3034-3036)Gtg>Ctg p.V1012L KIRP 11 118243839 118243839 + Missense_Mutation SNP G G A TCGA-B9-7268-01A-11D-2136-08 TCGA-B9-7268-10A-01D-2136-08 g.chr11:118243839G>A c.781G>A c.(781-783)Gaa>Aaa p.E261K KIRP 11 118250228 118250228 + Nonsense_Mutation SNP C C T TCGA-BQ-7051-01A-12D-1961-08 TCGA-BQ-7051-11A-02D-1961-08 g.chr11:118250228C>T c.1660C>T c.(1660-1662)Cag>Tag p.Q554* KIRP 11 118250311 118250315 + Frame_Shift_Del DEL CATGA CATGA - TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr11:118250311_118250315delCATGA c.1743_1747delCATGA c.(1741-1749)gccatgacafs p.MT582fs LGG 11 118235895 118235895 + Missense_Mutation SNP G G C TCGA-DH-A66D-01A-11D-A31L-08 TCGA-DH-A66D-10A-01D-A31J-08 g.chr11:118235895G>C c.100G>C c.(100-102)Gag>Cag p.E34Q LGG 11 118239407 118239407 + Silent SNP C C T TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 g.chr11:118239407C>T c.183C>T c.(181-183)ttC>ttT p.F61F LIHC 11 118242363 118242363 + Silent SNP C C T TCGA-WX-AA44-01A-11D-A38X-10 TCGA-WX-AA44-10A-01D-A38X-10 g.chr11:118242363C>T c.543C>T c.(541-543)ttC>ttT p.F181F LIHC 11 118243850 118243850 + Missense_Mutation SNP A A G TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr11:118243850A>G c.792A>G c.(790-792)atA>atG p.I264M LIHC 11 118245776 118245776 + Missense_Mutation SNP A A G TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr11:118245776A>G c.1303A>G c.(1303-1305)Atg>Gtg p.M435V LIHC 11 118245829 118245829 + Silent SNP A A G TCGA-G3-A6UC-01A-21D-A33K-10 TCGA-G3-A6UC-10A-01D-A33K-10 g.chr11:118245829A>G c.1356A>G c.(1354-1356)ctA>ctG p.L452L LIHC 11 118245934 118245934 + Silent SNP A A T TCGA-DD-AACQ-01A-11D-A40R-10 TCGA-DD-AACQ-10A-01D-A40U-10 g.chr11:118245934A>T c.1461A>T c.(1459-1461)gtA>gtT p.V487V LUAD 11 118239392 118239392 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr11:118239392G>C c.168G>C c.(166-168)gaG>gaC p.E56D LUAD 11 118242371 118242371 + Missense_Mutation SNP C C A TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr11:118242371C>A c.551C>A c.(550-552)gCc>gAc p.A184D LUAD 11 118243384 118243384 + Nonsense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr11:118243384G>T c.724G>T c.(724-726)Gag>Tag p.E242* LUAD 11 118244398 118244398 + Nonsense_Mutation SNP C C T TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr11:118244398C>T c.1135C>T c.(1135-1137)Cag>Tag p.Q379* LUAD 11 118250165 118250165 + De_novo_Start_OutOfFrame SNP C C A TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr11:118250165C>A LUAD 11 118250358 118250358 + Missense_Mutation SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr11:118250358C>T c.1790C>T c.(1789-1791)tCc>tTc p.S597F LUAD 11 118261406 118261406 + Missense_Mutation SNP G G T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr11:118261406G>T c.2824G>T c.(2824-2826)Gat>Tat p.D942Y LUAD 11 118263480 118263480 + Nonsense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr11:118263480G>T c.2965G>T c.(2965-2967)Gag>Tag p.E989* LUSC 11 118235859 118235859 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr11:118235859C>T c.64C>T c.(64-66)Ctg>Ttg p.L22L LUSC 11 118247311 118247311 + Silent SNP G G A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr11:118247311G>A c.1494G>A c.(1492-1494)ttG>ttA p.L498L LUSC 11 118267127 118267127 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr11:118267127G>A c.3194G>A c.(3193-3195)aGg>aAg p.R1065K OV 11 118253371 118253371 + Missense_Mutation SNP C C G TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 g.chr11:118253371C>G c.2098C>G c.(2098-2100)Cag>Gag p.Q700E OV 11 118260580 118260580 + Missense_Mutation SNP C C A TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 g.chr11:118260580C>A c.2749C>A c.(2749-2751)Cag>Aag p.Q917K OV 11 118261438 118261441 + Frame_Shift_Del DEL ACAG ACAG - TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 g.chr11:118261438_118261441delACAG c.2856_2859delACAG c.(2854-2859)gcacagfs p.AQ952fs PAAD 11 118247314 118247314 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:118247314C>A c.1497C>A c.(1495-1497)atC>atA p.I499I PAAD 11 118250189 118250189 + Missense_Mutation SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr11:118250189C>A c.1621C>A c.(1621-1623)Caa>Aaa p.Q541K PAAD 11 118263583 118263583 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:118263583G>A c.3068G>A c.(3067-3069)aGa>aAa p.R1023K PRAD 11 118255419 118255419 + Missense_Mutation SNP G G T TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 g.chr11:118255419G>T c.2288G>T c.(2287-2289)tGg>tTg p.W763L READ 11 118239408 118239408 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:118239408G>A c.184G>A c.(184-186)Gat>Aat p.D62N READ 11 118252107 118252107 + Splice_Site SNP A A T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:118252107A>T c.1899A>T c.(1897-1899)gaA>gaT p.E633D SKCM 11 118239488 118239488 + Silent SNP C C T TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr11:118239488C>T c.264C>T c.(262-264)atC>atT p.I88I SKCM 11 118243308 118243308 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr11:118243308C>T c.648C>T c.(646-648)acC>acT p.T216T SKCM 11 118245634 118245634 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 g.chr11:118245634G>A c.1161G>A c.(1159-1161)aaG>aaA p.K387K SKCM 11 118245671 118245671 + Missense_Mutation SNP C C T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr11:118245671C>T c.1198C>T c.(1198-1200)Cca>Tca p.P400S SKCM 11 118245820 118245820 + Silent SNP C C G TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr11:118245820C>G c.1347C>G c.(1345-1347)ctC>ctG p.L449L SKCM 11 118245918 118245918 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr11:118245918G>A c.1445G>A c.(1444-1446)cGa>cAa p.R482Q SKCM 11 118250261 118250261 + Missense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr11:118250261C>T c.1693C>T c.(1693-1695)Cgt>Tgt p.R565C SKCM 11 118252157 118252157 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr11:118252157C>T c.1949C>T c.(1948-1950)gCc>gTc p.A650V SKCM 11 118253383 118253383 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr11:118253383C>T c.2110C>T c.(2110-2112)Ccc>Tcc p.P704S SKCM 11 118255590 118255590 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr11:118255590C>T c.2363C>T c.(2362-2364)cCc>cTc p.P788L SKCM 11 118255600 118255600 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr11:118255600C>T c.2373C>T c.(2371-2373)ttC>ttT p.F791F SKCM 11 118257192 118257192 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr11:118257192C>T c.2473C>T c.(2473-2475)Cga>Tga p.R825* SKCM 11 118267050 118267050 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr11:118267050C>T c.3117C>T c.(3115-3117)aaC>aaT p.N1039N SKCM 11 118267125 118267125 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr11:118267125G>A c.3192G>A c.(3190-3192)gaG>gaA p.E1064E SKCM 11 118267125 118267125 + Silent SNP G G A TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr11:118267125G>A c.3192G>A c.(3190-3192)gaG>gaA p.E1064E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 11 118257262 118257262 single base substitution A G missense_variant Q313R 938A>G BLCA-US 11 118257262 118257262 single base substitution A G missense_variant Q841R 2522A>G BLCA-US 11 118257262 118257262 single base substitution A G missense_variant Q848R 2543A>G BLCA-US 11 118267074 118267074 single base substitution G C missense_variant Q1040H 3120G>C BLCA-US 11 118267074 118267074 single base substitution G C missense_variant Q1047H 3141G>C BLCA-US 11 118267074 118267074 single base substitution G C missense_variant Q512H 1536G>C BLCA-US 11 118267125 118267125 single base substitution G C missense_variant E1057D 3171G>C BLCA-US 11 118267125 118267125 single base substitution G C missense_variant E1064D 3192G>C BLCA-US 11 118267125 118267125 single base substitution G C missense_variant E529D 1587G>C BRCA-EU 11 118225442 118225442 single base substitution G T upstream_gene_variant BRCA-EU 11 118226936 118226936 single base substitution G A upstream_gene_variant BRCA-EU 11 118226940 118226940 single base substitution A G upstream_gene_variant BRCA-EU 11 118227178 118227178 single base substitution G C upstream_gene_variant BRCA-EU 11 118227795 118227795 single base substitution G A upstream_gene_variant BRCA-EU 11 118227872 118227872 single base substitution C T upstream_gene_variant BRCA-EU 11 118228775 118228775 single base substitution G C upstream_gene_variant BRCA-EU 11 118229724 118229724 single base substitution A G upstream_gene_variant BRCA-EU 11 118231006 118231006 single base substitution G A intron_variant BRCA-EU 11 118231328 118231328 single base substitution C T intron_variant BRCA-EU 11 118231570 118231570 single base substitution A C intron_variant BRCA-EU 11 118234787 118234787 single base substitution A T intron_variant BRCA-EU 11 118240591 118240591 single base substitution G A intron_variant BRCA-EU 11 118241785 118241786 deletion of <=200bp AG - intron_variant BRCA-EU 11 118241931 118241931 single base substitution A T intron_variant BRCA-EU 11 118242214 118242214 single base substitution T A intron_variant BRCA-EU 11 118242415 118242415 single base substitution T A intron_variant BRCA-EU 11 118242678 118242678 deletion of <=200bp A - intron_variant BRCA-EU 11 118244123 118244123 single base substitution A G intron_variant BRCA-EU 11 118246698 118246698 single base substitution A G intron_variant BRCA-EU 11 118246698 118246698 single base substitution A G upstream_gene_variant BRCA-EU 11 118248264 118248264 single base substitution C T intron_variant BRCA-EU 11 118248264 118248264 single base substitution C T upstream_gene_variant BRCA-EU 11 118249499 118249499 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 11 118249499 118249499 single base substitution C G intron_variant BRCA-EU 11 118250029 118250029 single base substitution G A intron_variant BRCA-EU 11 118250358 118250358 single base substitution C G missense_variant S590C 1769C>G BRCA-EU 11 118250358 118250358 single base substitution C G missense_variant S597C 1790C>G BRCA-EU 11 118250358 118250358 single base substitution C G missense_variant S62C 185C>G BRCA-EU 11 118253046 118253046 single base substitution G T intron_variant BRCA-EU 11 118253047 118253047 single base substitution C T intron_variant BRCA-EU 11 118253230 118253232 deletion of <=200bp TTA - intron_variant BRCA-EU 11 118254078 118254078 single base substitution G A intron_variant BRCA-EU 11 118254130 118254130 single base substitution G A intron_variant BRCA-EU 11 118255246 118255246 single base substitution A G intron_variant BRCA-EU 11 118257355 118257355 single base substitution C A intron_variant BRCA-EU 11 118258175 118258175 single base substitution A G intron_variant BRCA-EU 11 118259877 118259877 single base substitution A G intron_variant BRCA-EU 11 118261988 118261988 single base substitution G A intron_variant BRCA-EU 11 118265472 118265472 single base substitution G C intron_variant BRCA-EU 11 118266984 118266984 single base substitution G C intron_variant BRCA-EU 11 118268803 118268803 single base substitution A T 3_prime_UTR_variant BRCA-EU 11 118268803 118268803 single base substitution A T downstream_gene_variant BRCA-EU 11 118270013 118270013 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 118272487 118272487 single base substitution G A downstream_gene_variant BRCA-EU 11 118273510 118273510 single base substitution G A downstream_gene_variant BRCA-EU 11 118273982 118273982 single base substitution G A downstream_gene_variant BRCA-FR 11 118232692 118232692 single base substitution A T intron_variant BRCA-FR 11 118242415 118242415 single base substitution T A intron_variant BRCA-FR 11 118254078 118254078 single base substitution G A intron_variant BRCA-FR 11 118257854 118257854 single base substitution G A intron_variant BRCA-FR 11 118265483 118265483 single base substitution G A intron_variant BRCA-FR 11 118266984 118266984 single base substitution G C intron_variant BRCA-UK 11 118242214 118242214 single base substitution T A intron_variant BRCA-UK 11 118257355 118257355 single base substitution C A intron_variant BRCA-UK 11 118259257 118259257 single base substitution G A intron_variant BRCA-UK 11 118259410 118259410 single base substitution G A intron_variant BRCA-UK 11 118264939 118264939 single base substitution C T intron_variant BRCA-US 11 118239367 118239367 single base substitution A G missense_variant D48G 143A>G BRCA-US 11 118239438 118239438 single base substitution T A missense_variant F72I 214T>A BRCA-US 11 118242316 118242316 single base substitution C T stop_gained R166* 496C>T BRCA-US 11 118245696 118245696 single base substitution C G missense_variant S401C 1202C>G BRCA-US 11 118245696 118245696 single base substitution C G missense_variant S408C 1223C>G BRCA-US 11 118245696 118245696 single base substitution C G upstream_gene_variant BRCA-US 11 118255404 118255404 single base substitution T G missense_variant I223S 668T>G BRCA-US 11 118255404 118255404 single base substitution T G missense_variant I751S 2252T>G BRCA-US 11 118255404 118255404 single base substitution T G missense_variant I758S 2273T>G BRCA-US 11 118255641 118255642 deletion of <=200bp TT - frameshift_variant L270 BRCA-US 11 118255641 118255642 deletion of <=200bp TT - frameshift_variant L798 BRCA-US 11 118255641 118255642 deletion of <=200bp TT - frameshift_variant L805 BRCA-US 11 118257271 118257271 single base substitution G C missense_variant R316P 947G>C BRCA-US 11 118257271 118257271 single base substitution G C missense_variant R844P 2531G>C BRCA-US 11 118257271 118257271 single base substitution G C missense_variant R851P 2552G>C BTCA-JP 11 118243397 118243397 single base substitution A C intron_variant BTCA-JP 11 118243397 118243397 single base substitution A C missense_variant K246T 737A>C BTCA-JP 11 118243758 118243758 single base substitution A T intron_variant BTCA-JP 11 118247265 118247265 deletion of <=200bp T - intron_variant BTCA-JP 11 118247265 118247265 deletion of <=200bp T - upstream_gene_variant BTCA-JP 11 118252150 118252150 single base substitution C T missense_variant R113C 337C>T BTCA-JP 11 118252150 118252150 single base substitution C T missense_variant R641C 1921C>T BTCA-JP 11 118252150 118252150 single base substitution C T missense_variant R648C 1942C>T BTCA-JP 11 118260583 118260583 single base substitution C T missense_variant L383F 1147C>T BTCA-JP 11 118260583 118260583 single base substitution C T missense_variant L911F 2731C>T BTCA-JP 11 118260583 118260583 single base substitution C T missense_variant L918F 2752C>T BTCA-JP 11 118260682 118260682 single base substitution G A intron_variant CESC-US 11 118247314 118247314 single base substitution C T synonymous_variant I492I 1476C>T CESC-US 11 118247314 118247314 single base substitution C T synonymous_variant I499I 1497C>T CESC-US 11 118247314 118247314 single base substitution C T upstream_gene_variant CESC-US 11 118267042 118267042 single base substitution C A missense_variant P1030T 3088C>A CESC-US 11 118267042 118267042 single base substitution C A missense_variant P1037T 3109C>A CESC-US 11 118267042 118267042 single base substitution C A missense_variant P502T 1504C>A CESC-US 11 118272366 118272366 single base substitution C T downstream_gene_variant CESC-US 11 118272367 118272367 single base substitution T C downstream_gene_variant CLLE-ES 11 118226026 118226026 insertion of <=200bp - AC upstream_gene_variant CLLE-ES 11 118257192 118257192 single base substitution C T stop_gained R290* 868C>T CLLE-ES 11 118257192 118257192 single base substitution C T stop_gained R818* 2452C>T CLLE-ES 11 118257192 118257192 single base substitution C T stop_gained R825* 2473C>T CLLE-ES 11 118270749 118270749 single base substitution A G downstream_gene_variant COAD-US 11 118242237 118242237 single base substitution C T synonymous_variant F139F 417C>T COAD-US 11 118247332 118247332 single base substitution G A synonymous_variant P498P 1494G>A COAD-US 11 118247332 118247332 single base substitution G A synonymous_variant P505P 1515G>A COAD-US 11 118247332 118247332 single base substitution G A upstream_gene_variant COAD-US 11 118250329 118250329 single base substitution G A missense_variant M52I 156G>A COAD-US 11 118250329 118250329 single base substitution G A missense_variant M580I 1740G>A COAD-US 11 118250329 118250329 single base substitution G A missense_variant M587I 1761G>A COAD-US 11 118255420 118255420 single base substitution G A stop_gained W228* 684G>A COAD-US 11 118255420 118255420 single base substitution G A stop_gained W756* 2268G>A COAD-US 11 118255420 118255420 single base substitution G A stop_gained W763* 2289G>A COCA-CN 11 118234335 118234335 single base substitution T C intron_variant COCA-CN 11 118235969 118235969 single base substitution C T intron_variant COCA-CN 11 118245739 118245739 single base substitution G T missense_variant K415N 1245G>T COCA-CN 11 118245739 118245739 single base substitution G T missense_variant K422N 1266G>T COCA-CN 11 118245739 118245739 single base substitution G T upstream_gene_variant COCA-CN 11 118246048 118246048 single base substitution G C intron_variant COCA-CN 11 118246048 118246048 single base substitution G C upstream_gene_variant COCA-CN 11 118247365 118247365 single base substitution G T missense_variant E509D 1527G>T COCA-CN 11 118247365 118247365 single base substitution G T missense_variant E516D 1548G>T COCA-CN 11 118247365 118247365 single base substitution G T upstream_gene_variant COCA-CN 11 118248407 118248407 single base substitution C T intron_variant COCA-CN 11 118248407 118248407 single base substitution C T upstream_gene_variant COCA-CN 11 118248469 118248469 single base substitution T C intron_variant COCA-CN 11 118248469 118248469 single base substitution T C upstream_gene_variant COCA-CN 11 118248476 118248476 single base substitution A T intron_variant COCA-CN 11 118248476 118248476 single base substitution A T upstream_gene_variant COCA-CN 11 118250845 118250845 single base substitution T C intron_variant COCA-CN 11 118267256 118267256 single base substitution C T 3_prime_UTR_variant COCA-CN 11 118267256 118267256 single base substitution C T downstream_gene_variant COCA-CN 11 118267262 118267262 single base substitution C T 3_prime_UTR_variant COCA-CN 11 118267262 118267262 single base substitution C T downstream_gene_variant ESAD-UK 11 118226422 118226422 insertion of <=200bp - AC upstream_gene_variant ESAD-UK 11 118227829 118227829 single base substitution G T upstream_gene_variant ESAD-UK 11 118228526 118228526 single base substitution C T upstream_gene_variant ESAD-UK 11 118230302 118230302 single base substitution A C 5_prime_UTR_variant ESAD-UK 11 118230302 118230302 single base substitution A C upstream_gene_variant ESAD-UK 11 118232026 118232026 single base substitution C T intron_variant ESAD-UK 11 118238050 118238050 single base substitution T C intron_variant ESAD-UK 11 118240871 118240871 single base substitution A G intron_variant ESAD-UK 11 118242939 118242939 single base substitution C T intron_variant ESAD-UK 11 118247249 118247249 single base substitution C G intron_variant ESAD-UK 11 118247249 118247249 single base substitution C G upstream_gene_variant ESAD-UK 11 118248501 118248501 single base substitution G T intron_variant ESAD-UK 11 118248501 118248501 single base substitution G T upstream_gene_variant ESAD-UK 11 118248749 118248749 single base substitution T C intron_variant ESAD-UK 11 118248749 118248749 single base substitution T C upstream_gene_variant ESAD-UK 11 118248979 118248979 deletion of <=200bp A - intron_variant ESAD-UK 11 118248979 118248979 deletion of <=200bp A - upstream_gene_variant ESAD-UK 11 118249824 118249824 single base substitution C G intron_variant ESAD-UK 11 118252848 118252848 single base substitution A G intron_variant ESAD-UK 11 118254505 118254505 single base substitution C A intron_variant ESAD-UK 11 118254850 118254850 single base substitution G A intron_variant ESAD-UK 11 118256141 118256141 single base substitution T C intron_variant ESAD-UK 11 118264959 118264959 single base substitution C T intron_variant ESAD-UK 11 118266555 118266555 single base substitution C T intron_variant ESAD-UK 11 118266848 118266848 single base substitution G A intron_variant ESAD-UK 11 118267442 118267442 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 118267442 118267442 single base substitution C T downstream_gene_variant ESAD-UK 11 118272840 118272840 single base substitution G T downstream_gene_variant ESAD-UK 11 118273337 118273337 deletion of <=200bp A - downstream_gene_variant ESAD-UK 11 118274198 118274198 single base substitution G A downstream_gene_variant ESAD-UK 11 118274440 118274440 single base substitution G A downstream_gene_variant ESCA-CN 11 118240180 118240180 single base substitution G C missense_variant C113S 338G>C ESCA-CN 11 118245772 118245772 single base substitution C T synonymous_variant F426F 1278C>T ESCA-CN 11 118245772 118245772 single base substitution C T synonymous_variant F433F 1299C>T ESCA-CN 11 118245772 118245772 single base substitution C T upstream_gene_variant ESCA-CN 11 118255436 118255436 single base substitution C T missense_variant R234W 700C>T ESCA-CN 11 118255436 118255436 single base substitution C T missense_variant R762W 2284C>T ESCA-CN 11 118255436 118255436 single base substitution C T missense_variant R769W 2305C>T GBM-US 11 118255613 118255613 single base substitution A T missense_variant N261Y 781A>T GBM-US 11 118255613 118255613 single base substitution A T missense_variant N789Y 2365A>T GBM-US 11 118255613 118255613 single base substitution A T missense_variant N796Y 2386A>T KIRC-US 11 118263549 118263549 single base substitution G C missense_variant V1005L 3013G>C KIRC-US 11 118263549 118263549 single base substitution G C missense_variant V1012L 3034G>C KIRC-US 11 118263549 118263549 single base substitution G C missense_variant V477L 1429G>C KIRP-US 11 118243839 118243839 single base substitution G A missense_variant E254K 760G>A KIRP-US 11 118243839 118243839 single base substitution G A missense_variant E261K 781G>A KIRP-US 11 118250228 118250228 single base substitution C T stop_gained Q19* 55C>T KIRP-US 11 118250228 118250228 single base substitution C T stop_gained Q547* 1639C>T KIRP-US 11 118250228 118250228 single base substitution C T stop_gained Q554* 1660C>T KIRP-US 11 118272388 118272388 single base substitution A G downstream_gene_variant LAML-KR 11 118250859 118250859 single base substitution T C intron_variant LAML-KR 11 118255278 118255278 single base substitution G A intron_variant LAML-KR 11 118262097 118262097 single base substitution G A intron_variant LAML-KR 11 118267262 118267262 single base substitution C T 3_prime_UTR_variant LAML-KR 11 118267262 118267262 single base substitution C T downstream_gene_variant LAML-KR 11 118273751 118273751 single base substitution A T downstream_gene_variant LGG-US 11 118239407 118239407 single base substitution C T synonymous_variant F61F 183C>T LICA-FR 11 118226521 118226521 single base substitution G T upstream_gene_variant LICA-FR 11 118243394 118243394 single base substitution A G intron_variant LICA-FR 11 118243394 118243394 single base substitution A G missense_variant N245S 734A>G LICA-FR 11 118246224 118246224 single base substitution G T intron_variant LICA-FR 11 118246224 118246224 single base substitution G T upstream_gene_variant LICA-FR 11 118255663 118255663 deletion of <=200bp A - splice_region_variant LICA-FR 11 118267042 118267042 single base substitution C A missense_variant P1030T 3088C>A LICA-FR 11 118267042 118267042 single base substitution C A missense_variant P1037T 3109C>A LICA-FR 11 118267042 118267042 single base substitution C A missense_variant P502T 1504C>A LIHC-US 11 118245829 118245829 single base substitution A G synonymous_variant L445L 1335A>G LIHC-US 11 118245829 118245829 single base substitution A G synonymous_variant L452L 1356A>G LIHC-US 11 118245829 118245829 single base substitution A G upstream_gene_variant LIHC-US 11 118263565 118263565 single base substitution C T missense_variant S1010F 3029C>T LIHC-US 11 118263565 118263565 single base substitution C T missense_variant S1017F 3050C>T LIHC-US 11 118263565 118263565 single base substitution C T missense_variant S482F 1445C>T LINC-JP 11 118239999 118239999 single base substitution A G intron_variant LINC-JP 11 118243136 118243136 insertion of <=200bp - T intron_variant LINC-JP 11 118247265 118247265 deletion of <=200bp T - intron_variant LINC-JP 11 118247265 118247265 deletion of <=200bp T - upstream_gene_variant LINC-JP 11 118255529 118255529 single base substitution G A intron_variant LIRI-JP 11 118225553 118225553 single base substitution C T upstream_gene_variant LIRI-JP 11 118227339 118227339 single base substitution C T upstream_gene_variant LIRI-JP 11 118232236 118232236 single base substitution A G intron_variant LIRI-JP 11 118232909 118232909 single base substitution C T intron_variant LIRI-JP 11 118233916 118233916 single base substitution C A intron_variant LIRI-JP 11 118234391 118234391 single base substitution A G intron_variant LIRI-JP 11 118234819 118234819 single base substitution A T intron_variant LIRI-JP 11 118235914 118235914 single base substitution C A missense_variant S40Y 119C>A LIRI-JP 11 118237038 118237038 single base substitution A G intron_variant LIRI-JP 11 118238201 118238201 single base substitution C A intron_variant LIRI-JP 11 118238412 118238412 single base substitution A T intron_variant LIRI-JP 11 118239133 118239133 single base substitution A G intron_variant LIRI-JP 11 118240832 118240832 single base substitution A G intron_variant LIRI-JP 11 118241863 118241863 single base substitution G A intron_variant LIRI-JP 11 118242187 118242187 single base substitution A G intron_variant LIRI-JP 11 118243070 118243070 single base substitution T C intron_variant LIRI-JP 11 118244522 118244522 single base substitution A G intron_variant LIRI-JP 11 118244522 118244522 single base substitution A G upstream_gene_variant LIRI-JP 11 118245250 118245250 single base substitution G A intron_variant LIRI-JP 11 118245250 118245250 single base substitution G A upstream_gene_variant LIRI-JP 11 118245491 118245492 deletion of <=200bp AG - intron_variant LIRI-JP 11 118245491 118245492 deletion of <=200bp AG - upstream_gene_variant LIRI-JP 11 118245906 118245906 single base substitution A G missense_variant N471S 1412A>G LIRI-JP 11 118245906 118245906 single base substitution A G missense_variant N478S 1433A>G LIRI-JP 11 118245906 118245906 single base substitution A G upstream_gene_variant LIRI-JP 11 118249868 118249868 single base substitution A T intron_variant LIRI-JP 11 118251915 118251915 single base substitution A G intron_variant LIRI-JP 11 118253509 118253509 single base substitution C T intron_variant LIRI-JP 11 118257488 118257488 single base substitution T C intron_variant LIRI-JP 11 118258315 118258315 single base substitution G A intron_variant LIRI-JP 11 118258809 118258809 single base substitution T C intron_variant LIRI-JP 11 118262845 118262845 single base substitution A G intron_variant LIRI-JP 11 118266365 118266365 single base substitution A G intron_variant LIRI-JP 11 118269005 118269005 single base substitution G T 3_prime_UTR_variant LIRI-JP 11 118269005 118269005 single base substitution G T downstream_gene_variant LIRI-JP 11 118269099 118269099 single base substitution A G 3_prime_UTR_variant LIRI-JP 11 118269099 118269099 single base substitution A G downstream_gene_variant LIRI-JP 11 118270150 118270150 single base substitution G A downstream_gene_variant LUSC-KR 11 118227129 118227129 single base substitution C T upstream_gene_variant LUSC-KR 11 118228314 118228314 single base substitution G A upstream_gene_variant LUSC-KR 11 118228635 118228635 single base substitution G A upstream_gene_variant LUSC-KR 11 118253623 118253623 single base substitution G C intron_variant LUSC-KR 11 118257829 118257829 single base substitution T G intron_variant LUSC-KR 11 118258567 118258567 single base substitution G T intron_variant LUSC-KR 11 118265162 118265162 single base substitution C G intron_variant LUSC-US 11 118235859 118235859 single base substitution C T synonymous_variant L22L 64C>T LUSC-US 11 118247311 118247311 single base substitution G A synonymous_variant L491L 1473G>A LUSC-US 11 118247311 118247311 single base substitution G A synonymous_variant L498L 1494G>A LUSC-US 11 118247311 118247311 single base substitution G A upstream_gene_variant LUSC-US 11 118267127 118267127 single base substitution G A missense_variant R1058K 3173G>A LUSC-US 11 118267127 118267127 single base substitution G A missense_variant R1065K 3194G>A LUSC-US 11 118267127 118267127 single base substitution G A missense_variant R530K 1589G>A LUSC-US 11 118272382 118272382 single base substitution T C downstream_gene_variant MALY-DE 11 118225993 118225994 deletion of <=200bp TG - upstream_gene_variant MALY-DE 11 118229286 118229286 single base substitution T G upstream_gene_variant MALY-DE 11 118229365 118229365 single base substitution T C upstream_gene_variant MALY-DE 11 118229672 118229672 single base substitution T A upstream_gene_variant MALY-DE 11 118229693 118229693 single base substitution T C upstream_gene_variant MALY-DE 11 118229900 118229900 single base substitution T A upstream_gene_variant MALY-DE 11 118233508 118233508 single base substitution A T intron_variant MALY-DE 11 118233987 118233987 single base substitution T C intron_variant MALY-DE 11 118236842 118236842 single base substitution A G intron_variant MALY-DE 11 118238625 118238625 single base substitution T C intron_variant MALY-DE 11 118243624 118243624 single base substitution G A intron_variant MALY-DE 11 118245972 118245973 deletion of <=200bp TG - intron_variant MALY-DE 11 118245972 118245973 deletion of <=200bp TG - upstream_gene_variant MALY-DE 11 118255231 118255231 single base substitution G A intron_variant MALY-DE 11 118258572 118258572 single base substitution C T intron_variant MALY-DE 11 118259191 118259191 single base substitution C T intron_variant MALY-DE 11 118260522 118260522 single base substitution C G synonymous_variant G362G 1086C>G MALY-DE 11 118260522 118260522 single base substitution C G synonymous_variant G890G 2670C>G MALY-DE 11 118260522 118260522 single base substitution C G synonymous_variant G897G 2691C>G MALY-DE 11 118261792 118261792 single base substitution G C intron_variant MALY-DE 11 118263532 118263532 single base substitution C T missense_variant T1006I 3017C>T MALY-DE 11 118263532 118263532 single base substitution C T missense_variant T471I 1412C>T MALY-DE 11 118263532 118263532 single base substitution C T missense_variant T999I 2996C>T MALY-DE 11 118270894 118270897 deletion of <=200bp TAGT - downstream_gene_variant MALY-DE 11 118271727 118271727 single base substitution T A downstream_gene_variant MELA-AU 11 118225407 118225407 single base substitution T C upstream_gene_variant MELA-AU 11 118225420 118225420 single base substitution C T upstream_gene_variant MELA-AU 11 118225452 118225452 single base substitution T A upstream_gene_variant MELA-AU 11 118225761 118225761 single base substitution C T upstream_gene_variant MELA-AU 11 118225904 118225904 single base substitution A G upstream_gene_variant MELA-AU 11 118226189 118226189 single base substitution T C upstream_gene_variant MELA-AU 11 118226388 118226388 single base substitution A G upstream_gene_variant MELA-AU 11 118226401 118226401 single base substitution T C upstream_gene_variant MELA-AU 11 118226521 118226521 single base substitution G T upstream_gene_variant MELA-AU 11 118226585 118226585 single base substitution T C upstream_gene_variant MELA-AU 11 118226895 118226895 single base substitution C T upstream_gene_variant MELA-AU 11 118226914 118226914 single base substitution G A upstream_gene_variant MELA-AU 11 118227341 118227341 single base substitution A C upstream_gene_variant MELA-AU 11 118227534 118227534 single base substitution C T upstream_gene_variant MELA-AU 11 118228331 118228331 single base substitution G A upstream_gene_variant MELA-AU 11 118228361 118228361 single base substitution C T upstream_gene_variant MELA-AU 11 118228494 118228494 single base substitution C T upstream_gene_variant MELA-AU 11 118229054 118229054 single base substitution G A upstream_gene_variant MELA-AU 11 118229071 118229071 single base substitution C T upstream_gene_variant MELA-AU 11 118229361 118229361 single base substitution T G upstream_gene_variant MELA-AU 11 118230197 118230197 single base substitution T A upstream_gene_variant MELA-AU 11 118230253 118230253 single base substitution C T upstream_gene_variant MELA-AU 11 118230306 118230306 single base substitution C T 5_prime_UTR_variant MELA-AU 11 118230306 118230306 single base substitution C T upstream_gene_variant MELA-AU 11 118230651 118230651 single base substitution C T intron_variant MELA-AU 11 118230804 118230804 single base substitution C T intron_variant MELA-AU 11 118231150 118231150 single base substitution G A intron_variant MELA-AU 11 118231786 118231786 single base substitution C T intron_variant MELA-AU 11 118232926 118232926 single base substitution C T intron_variant MELA-AU 11 118234357 118234357 single base substitution C T intron_variant MELA-AU 11 118234457 118234457 single base substitution C T intron_variant MELA-AU 11 118235287 118235287 single base substitution C T intron_variant MELA-AU 11 118235513 118235513 single base substitution C T intron_variant MELA-AU 11 118235595 118235595 single base substitution G A intron_variant MELA-AU 11 118235622 118235622 single base substitution G A intron_variant MELA-AU 11 118235982 118235982 single base substitution T A intron_variant MELA-AU 11 118236758 118236758 single base substitution C T intron_variant MELA-AU 11 118237611 118237611 single base substitution C T intron_variant MELA-AU 11 118238647 118238647 single base substitution C T intron_variant MELA-AU 11 118239186 118239186 single base substitution C T intron_variant MELA-AU 11 118239200 118239200 single base substitution C T intron_variant MELA-AU 11 118240341 118240341 single base substitution C T intron_variant MELA-AU 11 118240450 118240450 single base substitution C T intron_variant MELA-AU 11 118240801 118240801 single base substitution C T intron_variant MELA-AU 11 118241857 118241857 single base substitution C T intron_variant MELA-AU 11 118242419 118242419 single base substitution C T intron_variant MELA-AU 11 118243602 118243602 single base substitution C T intron_variant MELA-AU 11 118244145 118244145 single base substitution C T intron_variant MELA-AU 11 118245820 118245820 single base substitution C G synonymous_variant L442L 1326C>G MELA-AU 11 118245820 118245820 single base substitution C G synonymous_variant L449L 1347C>G MELA-AU 11 118245820 118245820 single base substitution C G upstream_gene_variant MELA-AU 11 118245855 118245855 single base substitution C T missense_variant S454F 1361C>T MELA-AU 11 118245855 118245855 single base substitution C T missense_variant S461F 1382C>T MELA-AU 11 118245855 118245855 single base substitution C T upstream_gene_variant MELA-AU 11 118245879 118245879 single base substitution C T missense_variant P462L 1385C>T MELA-AU 11 118245879 118245879 single base substitution C T missense_variant P469L 1406C>T MELA-AU 11 118245879 118245879 single base substitution C T upstream_gene_variant MELA-AU 11 118246927 118246927 single base substitution A T intron_variant MELA-AU 11 118246927 118246927 single base substitution A T upstream_gene_variant MELA-AU 11 118248150 118248150 single base substitution C T intron_variant MELA-AU 11 118248150 118248150 single base substitution C T upstream_gene_variant MELA-AU 11 118248619 118248619 single base substitution C T intron_variant MELA-AU 11 118248619 118248619 single base substitution C T upstream_gene_variant MELA-AU 11 118248787 118248787 single base substitution C T intron_variant MELA-AU 11 118248787 118248787 single base substitution C T upstream_gene_variant MELA-AU 11 118248885 118248885 single base substitution C T intron_variant MELA-AU 11 118248885 118248885 single base substitution C T upstream_gene_variant MELA-AU 11 118249831 118249832 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 118250661 118250661 single base substitution C T intron_variant MELA-AU 11 118251125 118251125 single base substitution C A intron_variant MELA-AU 11 118251797 118251797 single base substitution G A intron_variant MELA-AU 11 118252157 118252157 single base substitution C T missense_variant A115V 344C>T MELA-AU 11 118252157 118252157 single base substitution C T missense_variant A643V 1928C>T MELA-AU 11 118252157 118252157 single base substitution C T missense_variant A650V 1949C>T MELA-AU 11 118253314 118253314 single base substitution C T missense_variant P146S 436C>T MELA-AU 11 118253314 118253314 single base substitution C T missense_variant P674S 2020C>T MELA-AU 11 118253314 118253314 single base substitution C T missense_variant P681S 2041C>T MELA-AU 11 118253805 118253805 single base substitution C T intron_variant MELA-AU 11 118254027 118254027 single base substitution G A intron_variant MELA-AU 11 118254923 118254923 single base substitution C T intron_variant MELA-AU 11 118255521 118255521 single base substitution G T intron_variant MELA-AU 11 118256103 118256103 single base substitution C T intron_variant MELA-AU 11 118256133 118256133 single base substitution T G intron_variant MELA-AU 11 118256261 118256261 single base substitution C T intron_variant MELA-AU 11 118256444 118256444 single base substitution C T intron_variant MELA-AU 11 118256979 118256979 single base substitution C T intron_variant MELA-AU 11 118257351 118257351 single base substitution C T intron_variant MELA-AU 11 118257440 118257440 single base substitution C T intron_variant MELA-AU 11 118257510 118257510 single base substitution A G intron_variant MELA-AU 11 118257638 118257638 single base substitution A T intron_variant MELA-AU 11 118257714 118257714 single base substitution C T intron_variant MELA-AU 11 118258146 118258146 single base substitution A G intron_variant MELA-AU 11 118258241 118258241 single base substitution G A intron_variant MELA-AU 11 118258653 118258653 single base substitution G A intron_variant MELA-AU 11 118259146 118259147 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 11 118259644 118259644 single base substitution A G intron_variant MELA-AU 11 118259923 118259923 single base substitution C T intron_variant MELA-AU 11 118260224 118260224 single base substitution T C intron_variant MELA-AU 11 118261368 118261368 single base substitution C T splice_region_variant MELA-AU 11 118262275 118262275 single base substitution C T intron_variant MELA-AU 11 118263049 118263049 single base substitution C T intron_variant MELA-AU 11 118264271 118264271 single base substitution C T intron_variant MELA-AU 11 118265180 118265180 single base substitution C T intron_variant MELA-AU 11 118265233 118265233 single base substitution C T intron_variant MELA-AU 11 118266009 118266009 single base substitution A G intron_variant MELA-AU 11 118266758 118266758 single base substitution C T intron_variant MELA-AU 11 118268503 118268503 single base substitution A G 3_prime_UTR_variant MELA-AU 11 118268503 118268503 single base substitution A G downstream_gene_variant MELA-AU 11 118270182 118270182 single base substitution C T downstream_gene_variant MELA-AU 11 118270654 118270654 single base substitution G A downstream_gene_variant MELA-AU 11 118271336 118271336 single base substitution A G downstream_gene_variant MELA-AU 11 118272080 118272080 single base substitution C T downstream_gene_variant MELA-AU 11 118272093 118272093 single base substitution C T downstream_gene_variant MELA-AU 11 118272322 118272322 single base substitution C T downstream_gene_variant MELA-AU 11 118273839 118273839 single base substitution C T downstream_gene_variant MELA-AU 11 118274083 118274083 single base substitution T G downstream_gene_variant MELA-AU 11 118274198 118274198 single base substitution G A downstream_gene_variant ORCA-IN 11 118241237 118241237 single base substitution G C intron_variant ORCA-IN 11 118253371 118253371 single base substitution C G missense_variant Q165E 493C>G ORCA-IN 11 118253371 118253371 single base substitution C G missense_variant Q693E 2077C>G ORCA-IN 11 118253371 118253371 single base substitution C G missense_variant Q700E 2098C>G OV-AU 11 118226322 118226322 single base substitution A T upstream_gene_variant OV-AU 11 118227697 118227697 single base substitution C T upstream_gene_variant OV-AU 11 118229432 118229432 single base substitution C T upstream_gene_variant OV-AU 11 118230411 118230411 single base substitution G T intron_variant OV-AU 11 118234023 118234023 single base substitution G A intron_variant OV-AU 11 118238515 118238515 single base substitution A C intron_variant OV-AU 11 118240818 118240818 single base substitution A G intron_variant OV-AU 11 118241824 118241824 single base substitution G C intron_variant OV-AU 11 118249657 118249657 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant OV-AU 11 118249657 118249657 single base substitution T C intron_variant OV-AU 11 118251773 118251773 single base substitution C T intron_variant OV-AU 11 118251969 118251969 single base substitution C T intron_variant OV-AU 11 118256147 118256147 single base substitution A G intron_variant OV-AU 11 118256741 118256741 single base substitution C G intron_variant OV-AU 11 118257458 118257458 single base substitution G A intron_variant OV-AU 11 118259891 118259891 single base substitution G A intron_variant PACA-AU 11 118226065 118226065 single base substitution T C upstream_gene_variant PACA-AU 11 118234694 118234694 single base substitution C G intron_variant PACA-AU 11 118236776 118236776 single base substitution T A intron_variant PACA-AU 11 118241470 118241470 single base substitution G A intron_variant PACA-AU 11 118241828 118241828 single base substitution A G intron_variant PACA-AU 11 118248429 118248429 single base substitution A C intron_variant PACA-AU 11 118248429 118248429 single base substitution A C upstream_gene_variant PACA-AU 11 118261637 118261637 single base substitution A C intron_variant PACA-AU 11 118268094 118268094 single base substitution G A 3_prime_UTR_variant PACA-AU 11 118268094 118268094 single base substitution G A downstream_gene_variant PACA-AU 11 118272515 118272515 single base substitution G A downstream_gene_variant PACA-CA 11 118230983 118230983 single base substitution T G intron_variant PACA-CA 11 118234019 118234019 single base substitution G T intron_variant PACA-CA 11 118240291 118240291 single base substitution T A intron_variant PACA-CA 11 118243812 118243812 single base substitution G A missense_variant V245I 733G>A PACA-CA 11 118243812 118243812 single base substitution G A missense_variant V252I 754G>A PACA-CA 11 118246155 118246155 single base substitution A T intron_variant PACA-CA 11 118246155 118246155 single base substitution A T upstream_gene_variant PACA-CA 11 118251099 118251099 single base substitution A T intron_variant PACA-CA 11 118252002 118252002 deletion of <=200bp T - intron_variant PACA-CA 11 118252165 118252165 single base substitution A G missense_variant I118V 352A>G PACA-CA 11 118252165 118252165 single base substitution A G missense_variant I646V 1936A>G PACA-CA 11 118252165 118252165 single base substitution A G missense_variant I653V 1957A>G PACA-CA 11 118259980 118259980 single base substitution A G intron_variant PACA-CA 11 118261053 118261053 single base substitution G C intron_variant PACA-CA 11 118261266 118261266 deletion of <=200bp T - intron_variant PACA-CA 11 118262595 118262595 single base substitution T C intron_variant PACA-CA 11 118269244 118269244 single base substitution T A 3_prime_UTR_variant PACA-CA 11 118269244 118269244 single base substitution T A downstream_gene_variant PACA-CA 11 118269370 118269370 single base substitution G T 3_prime_UTR_variant PACA-CA 11 118269370 118269370 single base substitution G T downstream_gene_variant PACA-CA 11 118272111 118272134 deletion of <=200bp CTGCCCCACAAAATGCCTGCTTCT - downstream_gene_variant PAEN-IT 11 118226844 118226844 single base substitution A G upstream_gene_variant PBCA-DE 11 118226614 118226614 insertion of <=200bp - AC upstream_gene_variant PBCA-DE 11 118242325 118242325 single base substitution G T stop_gained G169* 505G>T PBCA-DE 11 118244793 118244793 single base substitution C T intron_variant PBCA-DE 11 118244793 118244793 single base substitution C T upstream_gene_variant PBCA-DE 11 118245972 118245973 deletion of <=200bp TG - intron_variant PBCA-DE 11 118245972 118245973 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 11 118250825 118250825 single base substitution G A intron_variant PBCA-DE 11 118253040 118253040 single base substitution G A intron_variant PBCA-DE 11 118259988 118259988 insertion of <=200bp - T intron_variant PBCA-DE 11 118262695 118262695 single base substitution A T intron_variant PBCA-DE 11 118263642 118263643 deletion of <=200bp AT - intron_variant PBCA-DE 11 118267488 118267488 single base substitution G A 3_prime_UTR_variant PBCA-DE 11 118267488 118267488 single base substitution G A downstream_gene_variant PBCA-DE 11 118269495 118269495 single base substitution T C 3_prime_UTR_variant PBCA-DE 11 118269495 118269495 single base substitution T C downstream_gene_variant PRAD-CA 11 118226545 118226545 single base substitution C A upstream_gene_variant PRAD-CA 11 118233446 118233446 single base substitution C T intron_variant PRAD-CA 11 118239441 118239441 single base substitution C T stop_gained R73* 217C>T PRAD-CA 11 118244285 118244285 single base substitution T A missense_variant L334Q 1001T>A PRAD-CA 11 118244285 118244285 single base substitution T A missense_variant L341Q 1022T>A PRAD-CA 11 118244285 118244285 single base substitution T A upstream_gene_variant PRAD-CA 11 118264244 118264244 single base substitution G C intron_variant PRAD-UK 11 118230521 118230521 single base substitution A G intron_variant PRAD-UK 11 118231198 118231198 single base substitution A G intron_variant PRAD-UK 11 118231937 118231937 single base substitution A G intron_variant PRAD-UK 11 118238211 118238211 single base substitution G C intron_variant PRAD-UK 11 118244070 118244070 deletion of <=200bp G - intron_variant PRAD-UK 11 118250517 118250517 single base substitution G C intron_variant PRAD-UK 11 118251512 118251512 single base substitution G T intron_variant PRAD-UK 11 118268211 118268211 single base substitution G A 3_prime_UTR_variant PRAD-UK 11 118268211 118268211 single base substitution G A downstream_gene_variant PRAD-UK 11 118270012 118270012 insertion of <=200bp - T downstream_gene_variant PRAD-UK 11 118272838 118272838 single base substitution G T downstream_gene_variant READ-US 11 118244265 118244265 single base substitution G T missense_variant K327N 981G>T READ-US 11 118244265 118244265 single base substitution G T missense_variant K334N 1002G>T READ-US 11 118244265 118244265 single base substitution G T upstream_gene_variant READ-US 11 118245634 118245634 single base substitution G T missense_variant K380N 1140G>T READ-US 11 118245634 118245634 single base substitution G T missense_variant K387N 1161G>T READ-US 11 118245634 118245634 single base substitution G T upstream_gene_variant READ-US 11 118245674 118245674 single base substitution G T stop_gained E394* 1180G>T READ-US 11 118245674 118245674 single base substitution G T stop_gained E401* 1201G>T READ-US 11 118245674 118245674 single base substitution G T upstream_gene_variant READ-US 11 118253482 118253482 single base substitution G A missense_variant E202K 604G>A READ-US 11 118253482 118253482 single base substitution G A missense_variant E730K 2188G>A READ-US 11 118253482 118253482 single base substitution G A missense_variant E737K 2209G>A RECA-EU 11 118240861 118240861 single base substitution T A intron_variant RECA-EU 11 118242672 118242672 single base substitution A G intron_variant RECA-EU 11 118252765 118252765 single base substitution A T intron_variant RECA-EU 11 118270481 118270481 single base substitution G T downstream_gene_variant SKCA-BR 11 118225608 118225608 single base substitution C T upstream_gene_variant SKCA-BR 11 118226020 118226020 single base substitution A G upstream_gene_variant SKCA-BR 11 118226039 118226039 single base substitution C T upstream_gene_variant SKCA-BR 11 118226176 118226176 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 11 118226185 118226185 insertion of <=200bp - TAC upstream_gene_variant SKCA-BR 11 118226194 118226194 single base substitution G A upstream_gene_variant SKCA-BR 11 118226210 118226211 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 11 118226217 118226217 insertion of <=200bp - CGT upstream_gene_variant SKCA-BR 11 118226219 118226219 single base substitution C T upstream_gene_variant SKCA-BR 11 118226233 118226233 insertion of <=200bp - CACATGTAT upstream_gene_variant SKCA-BR 11 118226257 118226257 single base substitution T C upstream_gene_variant SKCA-BR 11 118226335 118226343 deletion of <=200bp CATATATGT - upstream_gene_variant SKCA-BR 11 118226337 118226337 single base substitution T C upstream_gene_variant SKCA-BR 11 118226345 118226345 single base substitution T C upstream_gene_variant SKCA-BR 11 118226353 118226361 deletion of <=200bp CATATGTAT - upstream_gene_variant SKCA-BR 11 118226534 118226534 single base substitution A G upstream_gene_variant SKCA-BR 11 118226569 118226569 single base substitution A C upstream_gene_variant SKCA-BR 11 118226641 118226645 deletion of <=200bp TACAC - upstream_gene_variant SKCA-BR 11 118226740 118226740 single base substitution C G upstream_gene_variant SKCA-BR 11 118228059 118228060 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 11 118228624 118228624 single base substitution G C upstream_gene_variant SKCA-BR 11 118229474 118229474 single base substitution T C upstream_gene_variant SKCA-BR 11 118230253 118230253 single base substitution C T upstream_gene_variant SKCA-BR 11 118230325 118230325 single base substitution G A 5_prime_UTR_variant SKCA-BR 11 118230325 118230325 single base substitution G A upstream_gene_variant SKCA-BR 11 118231701 118231701 insertion of <=200bp - ATG intron_variant SKCA-BR 11 118231722 118231723 deletion of <=200bp TA - intron_variant SKCA-BR 11 118236698 118236698 single base substitution C T intron_variant SKCA-BR 11 118238502 118238502 single base substitution C T intron_variant SKCA-BR 11 118239199 118239199 single base substitution C T intron_variant SKCA-BR 11 118239266 118239266 single base substitution G A intron_variant SKCA-BR 11 118242416 118242416 single base substitution C T intron_variant SKCA-BR 11 118243139 118243139 single base substitution C T intron_variant SKCA-BR 11 118243169 118243169 single base substitution C T intron_variant SKCA-BR 11 118243570 118243570 single base substitution C T intron_variant SKCA-BR 11 118244663 118244663 single base substitution A C intron_variant SKCA-BR 11 118244663 118244663 single base substitution A C upstream_gene_variant SKCA-BR 11 118246061 118246061 single base substitution C T intron_variant SKCA-BR 11 118246061 118246061 single base substitution C T upstream_gene_variant SKCA-BR 11 118250841 118250849 deletion of <=200bp TGTGTGTGC - intron_variant SKCA-BR 11 118252555 118252555 single base substitution C T intron_variant SKCA-BR 11 118252976 118252976 single base substitution C T intron_variant SKCA-BR 11 118253384 118253384 single base substitution C T missense_variant P169L 506C>T SKCA-BR 11 118253384 118253384 single base substitution C T missense_variant P697L 2090C>T SKCA-BR 11 118253384 118253384 single base substitution C T missense_variant P704L 2111C>T SKCA-BR 11 118253843 118253843 single base substitution C T intron_variant SKCA-BR 11 118256079 118256079 single base substitution C T intron_variant SKCA-BR 11 118256278 118256278 single base substitution C T intron_variant SKCA-BR 11 118256345 118256345 single base substitution C T intron_variant SKCA-BR 11 118257526 118257526 single base substitution C T intron_variant SKCA-BR 11 118258733 118258733 single base substitution G A intron_variant SKCA-BR 11 118259363 118259363 insertion of <=200bp - CA intron_variant SKCA-BR 11 118261627 118261627 single base substitution G A intron_variant SKCA-BR 11 118263510 118263510 single base substitution T A missense_variant F464I 1390T>A SKCA-BR 11 118263510 118263510 single base substitution T A missense_variant F992I 2974T>A SKCA-BR 11 118263510 118263510 single base substitution T A missense_variant F999I 2995T>A SKCA-BR 11 118264619 118264619 single base substitution C T intron_variant SKCA-BR 11 118265913 118265913 single base substitution A G intron_variant SKCA-BR 11 118265958 118265958 single base substitution C T intron_variant SKCA-BR 11 118266063 118266063 single base substitution G A intron_variant SKCA-BR 11 118268441 118268441 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 118268441 118268441 single base substitution G A downstream_gene_variant SKCA-BR 11 118271860 118271860 single base substitution C G downstream_gene_variant SKCA-BR 11 118272321 118272321 single base substitution C T downstream_gene_variant SKCA-BR 11 118272333 118272333 single base substitution T G downstream_gene_variant SKCA-BR 11 118273839 118273839 single base substitution C T downstream_gene_variant SKCM-US 11 118235847 118235847 single base substitution C T missense_variant L18F 52C>T SKCM-US 11 118239362 118239362 single base substitution C T synonymous_variant S46S 138C>T SKCM-US 11 118239488 118239488 single base substitution C T synonymous_variant I88I 264C>T SKCM-US 11 118239494 118239494 single base substitution G A synonymous_variant R90R 270G>A SKCM-US 11 118243308 118243308 single base substitution C T synonymous_variant T216T 648C>T SKCM-US 11 118245634 118245634 single base substitution G A synonymous_variant K380K 1140G>A SKCM-US 11 118245634 118245634 single base substitution G A synonymous_variant K387K 1161G>A SKCM-US 11 118245634 118245634 single base substitution G A upstream_gene_variant SKCM-US 11 118245671 118245671 single base substitution C T missense_variant P393S 1177C>T SKCM-US 11 118245671 118245671 single base substitution C T missense_variant P400S 1198C>T SKCM-US 11 118245671 118245671 single base substitution C T upstream_gene_variant SKCM-US 11 118245820 118245820 single base substitution C G synonymous_variant L442L 1326C>G SKCM-US 11 118245820 118245820 single base substitution C G synonymous_variant L449L 1347C>G SKCM-US 11 118245820 118245820 single base substitution C G upstream_gene_variant SKCM-US 11 118250261 118250261 single base substitution C T missense_variant R30C 88C>T SKCM-US 11 118250261 118250261 single base substitution C T missense_variant R558C 1672C>T SKCM-US 11 118250261 118250261 single base substitution C T missense_variant R565C 1693C>T SKCM-US 11 118252157 118252157 single base substitution C T missense_variant A115V 344C>T SKCM-US 11 118252157 118252157 single base substitution C T missense_variant A643V 1928C>T SKCM-US 11 118252157 118252157 single base substitution C T missense_variant A650V 1949C>T SKCM-US 11 118253383 118253383 single base substitution C T missense_variant P169S 505C>T SKCM-US 11 118253383 118253383 single base substitution C T missense_variant P697S 2089C>T SKCM-US 11 118253383 118253383 single base substitution C T missense_variant P704S 2110C>T SKCM-US 11 118255590 118255590 single base substitution C T missense_variant P253L 758C>T SKCM-US 11 118255590 118255590 single base substitution C T missense_variant P781L 2342C>T SKCM-US 11 118255590 118255590 single base substitution C T missense_variant P788L 2363C>T SKCM-US 11 118255600 118255600 single base substitution C T synonymous_variant F256F 768C>T SKCM-US 11 118255600 118255600 single base substitution C T synonymous_variant F784F 2352C>T SKCM-US 11 118255600 118255600 single base substitution C T synonymous_variant F791F 2373C>T SKCM-US 11 118257192 118257192 single base substitution C T stop_gained R290* 868C>T SKCM-US 11 118257192 118257192 single base substitution C T stop_gained R818* 2452C>T SKCM-US 11 118257192 118257192 single base substitution C T stop_gained R825* 2473C>T SKCM-US 11 118267050 118267050 single base substitution C T synonymous_variant N1032N 3096C>T SKCM-US 11 118267050 118267050 single base substitution C T synonymous_variant N1039N 3117C>T SKCM-US 11 118267050 118267050 single base substitution C T synonymous_variant N504N 1512C>T SKCM-US 11 118267125 118267125 single base substitution G A synonymous_variant E1057E 3171G>A SKCM-US 11 118267125 118267125 single base substitution G A synonymous_variant E1064E 3192G>A SKCM-US 11 118267125 118267125 single base substitution G A synonymous_variant E529E 1587G>A STAD-US 11 118239372 118239372 single base substitution T G missense_variant S50A 148T>G STAD-US 11 118243291 118243291 single base substitution C T stop_gained R211* 631C>T STAD-US 11 118244399 118244399 single base substitution A G missense_variant Q372R 1115A>G STAD-US 11 118244399 118244399 single base substitution A G missense_variant Q379R 1136A>G STAD-US 11 118244399 118244399 single base substitution A G upstream_gene_variant STAD-US 11 118245730 118245730 single base substitution C T synonymous_variant G412G 1236C>T STAD-US 11 118245730 118245730 single base substitution C T synonymous_variant G419G 1257C>T STAD-US 11 118245730 118245730 single base substitution C T upstream_gene_variant STAD-US 11 118245827 118245827 single base substitution C A missense_variant L445I 1333C>A STAD-US 11 118245827 118245827 single base substitution C A missense_variant L452I 1354C>A STAD-US 11 118245827 118245827 single base substitution C A upstream_gene_variant STAD-US 11 118252213 118252213 single base substitution A G missense_variant T134A 400A>G STAD-US 11 118252213 118252213 single base substitution A G missense_variant T662A 1984A>G STAD-US 11 118252213 118252213 single base substitution A G missense_variant T669A 2005A>G STAD-US 11 118253321 118253321 single base substitution T G missense_variant L148R 443T>G STAD-US 11 118253321 118253321 single base substitution T G missense_variant L676R 2027T>G STAD-US 11 118253321 118253321 single base substitution T G missense_variant L683R 2048T>G STAD-US 11 118253350 118253350 single base substitution G A missense_variant A158T 472G>A STAD-US 11 118253350 118253350 single base substitution G A missense_variant A686T 2056G>A STAD-US 11 118253350 118253350 single base substitution G A missense_variant A693T 2077G>A STAD-US 11 118253471 118253471 single base substitution T C missense_variant F198S 593T>C STAD-US 11 118253471 118253471 single base substitution T C missense_variant F726S 2177T>C STAD-US 11 118253471 118253471 single base substitution T C missense_variant F733S 2198T>C STAD-US 11 118253491 118253491 single base substitution G C missense_variant G205R 613G>C STAD-US 11 118253491 118253491 single base substitution G C missense_variant G733R 2197G>C STAD-US 11 118253491 118253491 single base substitution G C missense_variant G740R 2218G>C STAD-US 11 118255401 118255401 single base substitution C A missense_variant P222H 665C>A STAD-US 11 118255401 118255401 single base substitution C A missense_variant P750H 2249C>A STAD-US 11 118255401 118255401 single base substitution C A missense_variant P757H 2270C>A STAD-US 11 118263589 118263589 single base substitution C T missense_variant T1018I 3053C>T STAD-US 11 118263589 118263589 single base substitution C T missense_variant T1025I 3074C>T STAD-US 11 118263589 118263589 single base substitution C T missense_variant T490I 1469C>T STAD-US 11 118272414 118272414 single base substitution A G downstream_gene_variant THCA-SA 11 118268613 118268613 single base substitution A G 3_prime_UTR_variant THCA-SA 11 118268613 118268613 single base substitution A G downstream_gene_variant THCA-US 11 118240215 118240215 single base substitution G C missense_variant D125H 373G>C UCEC-US 11 118235810 118235810 single base substitution G A synonymous_variant E5E 15G>A UCEC-US 11 118239407 118239407 single base substitution C T synonymous_variant F61F 183C>T UCEC-US 11 118239433 118239433 single base substitution G A missense_variant R70H 209G>A UCEC-US 11 118240247 118240247 single base substitution G T missense_variant E135D 405G>T UCEC-US 11 118243867 118243867 single base substitution G T missense_variant R263I 788G>T UCEC-US 11 118243867 118243867 single base substitution G T missense_variant R270I 809G>T UCEC-US 11 118243914 118243914 single base substitution C T stop_gained R279* 835C>T UCEC-US 11 118243914 118243914 single base substitution C T stop_gained R286* 856C>T UCEC-US 11 118243923 118243923 single base substitution G T missense_variant D282Y 844G>T UCEC-US 11 118243923 118243923 single base substitution G T missense_variant D289Y 865G>T UCEC-US 11 118244282 118244282 single base substitution T G missense_variant I333S 998T>G UCEC-US 11 118244282 118244282 single base substitution T G missense_variant I340S 1019T>G UCEC-US 11 118244282 118244282 single base substitution T G upstream_gene_variant UCEC-US 11 118244309 118244309 single base substitution C A missense_variant T342N 1025C>A UCEC-US 11 118244309 118244309 single base substitution C A missense_variant T349N 1046C>A UCEC-US 11 118244309 118244309 single base substitution C A upstream_gene_variant UCEC-US 11 118245629 118245629 single base substitution G A missense_variant E379K 1135G>A UCEC-US 11 118245629 118245629 single base substitution G A missense_variant E386K 1156G>A UCEC-US 11 118245629 118245629 single base substitution G A upstream_gene_variant UCEC-US 11 118250219 118250219 single base substitution C T missense_variant R16W 46C>T UCEC-US 11 118250219 118250219 single base substitution C T missense_variant R544W 1630C>T UCEC-US 11 118250219 118250219 single base substitution C T missense_variant R551W 1651C>T UCEC-US 11 118250261 118250261 single base substitution C T missense_variant R30C 88C>T UCEC-US 11 118250261 118250261 single base substitution C T missense_variant R558C 1672C>T UCEC-US 11 118250261 118250261 single base substitution C T missense_variant R565C 1693C>T UCEC-US 11 118250338 118250338 single base substitution C T synonymous_variant N55N 165C>T UCEC-US 11 118250338 118250338 single base substitution C T synonymous_variant N583N 1749C>T UCEC-US 11 118250338 118250338 single base substitution C T synonymous_variant N590N 1770C>T UCEC-US 11 118250357 118250357 single base substitution T A missense_variant S590T 1768T>A UCEC-US 11 118250357 118250357 single base substitution T A missense_variant S597T 1789T>A UCEC-US 11 118250357 118250357 single base substitution T A missense_variant S62T 184T>A UCEC-US 11 118253482 118253482 single base substitution G A missense_variant E202K 604G>A UCEC-US 11 118253482 118253482 single base substitution G A missense_variant E730K 2188G>A UCEC-US 11 118253482 118253482 single base substitution G A missense_variant E737K 2209G>A UCEC-US 11 118255374 118255374 single base substitution A C missense_variant K213T 638A>C UCEC-US 11 118255374 118255374 single base substitution A C missense_variant K741T 2222A>C UCEC-US 11 118255374 118255374 single base substitution A C missense_variant K748T 2243A>C UCEC-US 11 118255636 118255636 single base substitution C A synonymous_variant I268I 804C>A UCEC-US 11 118255636 118255636 single base substitution C A synonymous_variant I796I 2388C>A UCEC-US 11 118255636 118255636 single base substitution C A synonymous_variant I803I 2409C>A UCEC-US 11 118261413 118261413 single base substitution G A missense_variant R409H 1226G>A UCEC-US 11 118261413 118261413 single base substitution G A missense_variant R937H 2810G>A UCEC-US 11 118261413 118261413 single base substitution G A missense_variant R944H 2831G>A UCEC-US 11 118263606 118263606 single base substitution C T missense_variant L1024F 3070C>T UCEC-US 11 118263606 118263606 single base substitution C T missense_variant L1031F 3091C>T UCEC-US 11 118263606 118263606 single base substitution C T missense_variant L496F 1486C>T UCEC-US 11 118267107 118267107 single base substitution C A synonymous_variant I1051I 3153C>A UCEC-US 11 118267107 118267107 single base substitution C A synonymous_variant I1058I 3174C>A UCEC-US 11 118267107 118267107 single base substitution C A synonymous_variant I523I 1569C>A UCEC-US 11 118267111 118267111 single base substitution C T missense_variant R1053W 3157C>T UCEC-US 11 118267111 118267111 single base substitution C T missense_variant R1060W 3178C>T UCEC-US 11 118267111 118267111 single base substitution C T missense_variant R525W 1573C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MOLT-4 COSM1676461 c.1796C>T p.A599V Substitution - Missense 11:118379649-118379649 + S02242 COSM5677050 c.165_166delAG p.S57fs*3 Deletion - Frameshift 11:118368674-118368675 + TCGA-76-6282-01 COSM3397444 c.2386A>T p.N796Y Substitution - Missense 11:118384898-118384898 + TCGA-CD-8536-01 COSM4018274 c.2048T>G p.L683R Substitution - Missense 11:118382606-118382606 + PT49 COSM5935815 c.886C>T p.L296F Substitution - Missense 11:118373229-118373229 + RC-16 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + TCGA-D1-A103-01 COSM923548 c.405G>T p.E135D Substitution - Missense 11:118369532-118369532 + RC-5 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + CHC121T COSM216941 c.3109C>A p.P1037T Substitution - Missense 11:118396327-118396327 + S00035 COSM5419821 c.2433+3delA p.? Unknown 11:118384948-118384948 + PD2204a COSM28475 c.1025G>T p.S342I Substitution - Missense 11:118373573-118373573 + TCGA-AX-A05Z-01 COSM923550 c.856C>T p.R286* Substitution - Nonsense 11:118373199-118373199 + TCGA-CJ-4899-01 COSM466398 c.3034G>C p.V1012L Substitution - Missense 11:118392834-118392834 + TCGA-HF-7132-01 COSM4018279 c.3074C>T p.T1025I Substitution - Missense 11:118392874-118392874 + TCGA-GC-A3I6-01 COSM1297688 c.2543A>G p.Q848R Substitution - Missense 11:118386547-118386547 + CSB8 COSM5027496 c.1441G>T p.E481* Substitution - Nonsense 11:118375199-118375199 + TCGA-FP-7829-01 COSM4018275 c.2077G>A p.A693T Substitution - Missense 11:118382635-118382635 + TCGA-EE-A20C-06 COSM3443929 c.1347C>G p.L449L Substitution - coding silent 11:118375105-118375105 + ODG5 COSM5731520 c.726G>A p.E242E Substitution - coding silent 11:118372671-118372671 + RMS66_ COSM4988229 c.2799G>T p.E933D Substitution - Missense 11:118390666-118390666 + TCGA-AP-A056-01 COSM923556 c.1693C>T p.R565C Substitution - Missense 11:118379546-118379546 + TCGA-BT-A20J-01 COSM415329 c.3141G>C p.Q1047H Substitution - Missense 11:118396359-118396359 + TCGA-AN-A046-01 COSM3808468 c.496C>T p.R166* Substitution - Nonsense 11:118371601-118371601 + EV005-R3 COSM4410731 c.1394T>C p.L465P Substitution - Missense 11:118375152-118375152 + CHC121T COSM216941 c.3109C>A p.P1037T Substitution - Missense 11:118396327-118396327 + EV005-R2 COSM4410731 c.1394T>C p.L465P Substitution - Missense 11:118375152-118375152 + SCMC_RM2_ COSM4989343 c.1044G>T p.K348N Substitution - Missense 11:118373592-118373592 + TCGA-AX-A06B-01 COSM923547 c.209G>A p.R70H Substitution - Missense 11:118368718-118368718 + TCGA-BQ-7051-01 COSM3985962 c.1660C>T p.Q554* Substitution - Nonsense 11:118379513-118379513 + EV005-R4 COSM4410731 c.1394T>C p.L465P Substitution - Missense 11:118375152-118375152 + CHC121T COSM216941 c.3109C>A p.P1037T Substitution - Missense 11:118396327-118396327 + T2269 COSM4738748 c.2760A>C p.S920S Substitution - coding silent 11:118389876-118389876 + WA26 COSM242157 c.2141G>A p.R714H Substitution - Missense 11:118382699-118382699 + EV005-R1 COSM4410731 c.1394T>C p.L465P Substitution - Missense 11:118375152-118375152 + TCGA-36-1577-01 COSM111555 c.2856_2859delACAG p.T954fs*4 Deletion - Frameshift 11:118390723-118390726 + TCGA-AP-A056-01 COSM923563 c.3091C>T p.L1031F Substitution - Missense 11:118392891-118392891 + TCGA-B6-A0IO-01 COSM428495 c.143A>G p.D48G Substitution - Missense 11:118368652-118368652 + ML_09_T_01 COSM5038560 c.2995T>A p.F999I Substitution - Missense 11:118392795-118392795 + STC252 COSM5050560 c.418G>A p.A140T Substitution - Missense 11:118371523-118371523 + TCGA-E9-A226-01 COSM1475073 c.2273T>G p.I758S Substitution - Missense 11:118384689-118384689 + TCGA-GN-A269-01 COSM3443923 c.138C>T p.S46S Substitution - coding silent 11:118368647-118368647 + S0091 COSM5882014 c.1757delA p.M587fs*6 Deletion - Frameshift 11:118379610-118379610 + LIM1899 COSM4639708 c.2810C>T p.A937V Substitution - Missense 11:118390677-118390677 + BD124T COSM5492873 c.1942C>T p.R648C Substitution - Missense 11:118381435-118381435 + pfg019T COSM1638750 c.2009delT p.F671fs*5 Deletion - Frameshift 11:118381502-118381502 + RK234_C01 COSM4944960 c.119C>A p.S40Y Substitution - Missense 11:118365199-118365199 + 4095_T COSM3979164 c.2661G>T p.M887I Substitution - Missense 11:118389777-118389777 + CLN2 COSM5024813 c.86C>T p.A29V Substitution - Missense 11:118365166-118365166 + TCGA-RP-A693-06 COSM4895572 c.2110C>T p.P704S Substitution - Missense 11:118382668-118382668 + RC-7 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + EV005-R6 COSM4410731 c.1394T>C p.L465P Substitution - Missense 11:118375152-118375152 + PT40 COSM5923945 c.1939C>T p.R647C Substitution - Missense 11:118381432-118381432 + Sample_1 COSM5021736 c.2286G>T p.M762I Substitution - Missense 11:118384702-118384702 + TCGA-E2-A56Z-01 COSM3808467 c.214T>A p.F72I Substitution - Missense 11:118368723-118368723 + YUDIALE COSM1704619 c.1499C>T p.P500L Substitution - Missense 11:118376601-118376601 + HCT15 COSM2105271 c.1921G>A p.D641N Substitution - Missense 11:118381414-118381414 + RK150_C01 COSM3738881 c.1433A>G p.N478S Substitution - Missense 11:118375191-118375191 + TCGA-F5-6814-01 COSM3415572 c.1201G>T p.E401* Substitution - Nonsense 11:118374959-118374959 + RC-10 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + RC-1 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + RC-6 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + ESO-717 COSM1242977 c.2721C>T p.D907D Substitution - coding silent 11:118389837-118389837 + TCGA-AP-A0LM-01 COSM923555 c.1651C>T p.R551W Substitution - Missense 11:118379504-118379504 + TCGA-BS-A0UV-01 COSM923545 c.15G>A p.E5E Substitution - coding silent 11:118365095-118365095 + MOLT-4 COSM277984 c.632G>A p.R211Q Substitution - Missense 11:118372577-118372577 + TCGA-FP-A4BE-01 COSM4018271 c.1257C>T p.G419G Substitution - coding silent 11:118375015-118375015 + Pat_05_A COSM5837916 c.1123G>A p.A375T Substitution - Missense 11:118373671-118373671 + TCGA-D9-A6EC-06 COSM4405687 c.3192G>A p.E1064E Substitution - coding silent 11:118396410-118396410 + RC-4 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + TCGA-D1-A103-01 COSM923561 c.2409C>A p.I803I Substitution - coding silent 11:118384921-118384921 + TCGA-B7-5816-01 COSM4018269 c.631C>T p.R211* Substitution - Nonsense 11:118372576-118372576 + ESCC_BICR_027T COSM5443132 c.338G>C p.C113S Substitution - Missense 11:118369465-118369465 + TCGA-AZ-4315-01 COSM1351585 c.417C>T p.F139F Substitution - coding silent 11:118371522-118371522 + LIM2551 COSM4643505 c.1425G>T p.K475N Substitution - Missense 11:118375183-118375183 + 46M COSM5589289 c.2136G>A p.R712R Substitution - coding silent 11:118382694-118382694 + 4095_T COSM3979162 c.629C>A p.T210N Substitution - Missense 11:118372574-118372574 + 43 COSM97835 c.752A>C p.D251A Substitution - Missense 11:118373095-118373095 + 202_T COSM3979163 c.2549C>A p.A850E Substitution - Missense 11:118386553-118386553 + RC-8 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + CHEWS019 COSM4574083 c.620T>G p.V207G Substitution - Missense 11:118372565-118372565 + LUAD-D02185 COSM338426 c.1986G>T p.E662D Substitution - Missense 11:118381479-118381479 + EV005-R5 COSM4410731 c.1394T>C p.L465P Substitution - Missense 11:118375152-118375152 + PT24_2 COSM5904609 c.376C>A p.Q126K Substitution - Missense 11:118369503-118369503 + LUAD-YINHD COSM348343 c.857G>A p.R286Q Substitution - Missense 11:118373200-118373200 + 90245 COSM330229 c.2961G>A p.Q987Q Substitution - coding silent 11:118392761-118392761 + CSCC-40-T COSM4470040 c.1636C>A p.L546M Substitution - Missense 11:118379489-118379489 + TCGA-D1-A167-01 COSM923562 c.2831G>A p.R944H Substitution - Missense 11:118390698-118390698 + TCGA-18-3409-01 COSM686174 c.64C>T p.L22L Substitution - coding silent 11:118365144-118365144 + TCGA-AP-A0LM-01 COSM923560 c.2243A>C p.K748T Substitution - Missense 11:118384659-118384659 + TCGA-AP-A051-01 COSM923558 c.1789T>A p.S597T Substitution - Missense 11:118379642-118379642 + TCGA-BH-A18P-01 COSM5218931 c.2414_2415delTT p.L806fs*2 Deletion - Frameshift 11:118384926-118384927 + HN_62741 COSM130041 c.1813C>G p.L605V Substitution - Missense 11:118379666-118379666 + TCGA-B5-A11N-01 COSM923546 c.183C>T p.F61F Substitution - coding silent 11:118368692-118368692 + TCGA-66-2785-01 COSM686173 c.1494G>A p.L498L Substitution - coding silent 11:118376596-118376596 + TCGA-B5-A0JY-01 COSM923554 c.1156G>A p.E386K Substitution - Missense 11:118374914-118374914 + TCGA-B5-A11E-01 COSM923565 c.3178C>T p.R1060W Substitution - Missense 11:118396396-118396396 + N752T COSM236257 c.882G>T p.Q294H Substitution - Missense 11:118373225-118373225 + 2492700 COSM5600811 c.2111C>T p.P704L Substitution - Missense 11:118382669-118382669 + OSCC-GB_00120111 COSM73183 c.2098C>G p.Q700E Substitution - Missense 11:118382656-118382656 + TCGA-59-2348-01 COSM73183 c.2098C>G p.Q700E Substitution - Missense 11:118382656-118382656 + YUCHIME COSM1704620 c.2131C>T p.H711Y Substitution - Missense 11:118382689-118382689 + TCGA-BF-A1PV-01 COSM3443925 c.270G>A p.R90R Substitution - coding silent 11:118368779-118368779 + T55 COSM4738747 c.721C>T p.R241C Substitution - Missense 11:118372666-118372666 + TCGA-B9-7268-01 COSM3985961 c.781G>A p.E261K Substitution - Missense 11:118373124-118373124 + PT36 COSM5916137 c.2941C>T p.L981F Substitution - Missense 11:118392741-118392741 + TCGA-C5-A0TN-01 COSM216941 c.3109C>A p.P1037T Substitution - Missense 11:118396327-118396327 + 43 COSM97835 c.752A>C p.D251A Substitution - Missense 11:118373095-118373095 + SNU-175 COSM2105265 c.1596G>A p.L532L Substitution - coding silent 11:118379449-118379449 + TCGA-BT-A2LA-01 COSM1297687 c.536C>G p.S179C Substitution - Missense 11:118371641-118371641 + TCGA-A6-5662-01 COSM1351588 c.1761G>A p.M587I Substitution - Missense 11:118379614-118379614 + SNU-C2B COSM2105277 c.2258G>A p.R753H Substitution - Missense 11:118384674-118384674 + TCGA-D3-A51T-06 COSM3443933 c.2473C>T p.R825* Substitution - Nonsense 11:118386477-118386477 + 056-01-1TD COSM3443933 c.2473C>T p.R825* Substitution - Nonsense 11:118386477-118386477 + TCGA-GN-A266-06 COSM3443926 c.648C>T p.T216T Substitution - coding silent 11:118372593-118372593 + TCGA-BT-A20J-01 COSM415328 c.3192G>C p.E1064D Substitution - Missense 11:118396410-118396410 + T578 COSM4738749 c.2984C>T p.A995V Substitution - Missense 11:118392784-118392784 + YUKAT COSM5371760 c.1256G>A p.G419D Substitution - Missense 11:118375014-118375014 + TCGA-DD-A3A9-01 COSM4920694 c.3050C>T p.S1017F Substitution - Missense 11:118392850-118392850 + TCGA-FR-A3R1-01 COSM3443922 c.52C>T p.L18F Substitution - Missense 11:118365132-118365132 + CSCC-56-T COSM4476101 c.2041C>T p.P681S Substitution - Missense 11:118382599-118382599 + TCGA-DU-7019-01 COSM923546 c.183C>T p.F61F Substitution - coding silent 11:118368692-118368692 + TCGA-E2-A1LA-01 COSM1475074 c.2552G>C p.R851P Substitution - Missense 11:118386556-118386556 + Au2 COSM5600811 c.2111C>T p.P704L Substitution - Missense 11:118382669-118382669 + WSU-HN12 COSM4601031 c.1661A>G p.Q554R Substitution - Missense 11:118379514-118379514 + 2492702 COSM5600811 c.2111C>T p.P704L Substitution - Missense 11:118382669-118382669 + TCGA-AP-A0LM-01 COSM923551 c.865G>T p.D289Y Substitution - Missense 11:118373208-118373208 + EWS502 COSM4574084 c.1544C>G p.T515R Substitution - Missense 11:118376646-118376646 + RC-T COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + TCGA-EE-A29D-06 COSM3443934 c.3117C>T p.N1039N Substitution - coding silent 11:118396335-118396335 + S0003 COSM5882013 c.1023G>C p.L341L Substitution - coding silent 11:118373571-118373571 + RC-18 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + I2L-P7-Tumor-Organoid COSM5361036 c.150G>A p.S50S Substitution - coding silent 11:118368659-118368659 + TCGA-EE-A29E-06 COSM3443932 c.2373C>T p.F791F Substitution - coding silent 11:118384885-118384885 + HN_62421 COSM130044 c.2479G>A p.E827K Substitution - Missense 11:118386483-118386483 + HN_62421 COSM130043 c.2466G>T p.E822D Substitution - Missense 11:118386470-118386470 + TCGA-UC-A7PF-01 COSM4830117 c.1497C>T p.I499I Substitution - coding silent 11:118376599-118376599 + PT55 COSM5942447 c.2089C>T p.H697Y Substitution - Missense 11:118382647-118382647 + TCGA-60-2698-01 COSM686172 c.3194G>A p.R1065K Substitution - Missense 11:118396412-118396412 + Gp2D COSM4626751 c.2720A>G p.D907G Substitution - Missense 11:118389836-118389836 + TCGA-EI-6917-01 COSM923559 c.2209G>A p.E737K Substitution - Missense 11:118382767-118382767 + TCGA-D5-6540-01 COSM1351591 c.2289G>A p.W763* Substitution - Nonsense 11:118384705-118384705 + YUFERY COSM5371761 c.1980C>T p.S660S Substitution - coding silent 11:118381473-118381473 + CHC205T COSM3666854 c.734A>G p.N245S Substitution - Missense 11:118372679-118372679 + TCGA-EI-6917-01 COSM3415571 c.1161G>T p.K387N Substitution - Missense 11:118374919-118374919 + TCGA-EE-A3AC-06 COSM923556 c.1693C>T p.R565C Substitution - Missense 11:118379546-118379546 + 2521262 COSM5892159 c.743A>G p.Y248C Substitution - Missense 11:118373086-118373086 + TCGA-BH-A2L8-01 COSM3808469 c.1223C>G p.S408C Substitution - Missense 11:118374981-118374981 + 545 COSM2105277 c.2258G>A p.R753H Substitution - Missense 11:118384674-118384674 + PD24221a COSM5787406 c.1790C>G p.S597C Substitution - Missense 11:118379643-118379643 + D28 COSM5546069 c.1382C>T p.S461F Substitution - Missense 11:118375140-118375140 + TCGA-HU-A4GU-01 COSM4018272 c.1354C>A p.L452I Substitution - Missense 11:118375112-118375112 + HN_62417 COSM130042 c.1846G>A p.E616K Substitution - Missense 11:118379699-118379699 + CHC205T COSM3666854 c.734A>G p.N245S Substitution - Missense 11:118372679-118372679 + ESCC-001T COSM3770659 c.2305C>T p.R769W Substitution - Missense 11:118384721-118384721 + TCGA-AP-A0LM-01 COSM923549 c.809G>T p.R270I Substitution - Missense 11:118373152-118373152 + RKO COSM4647258 c.2522C>T p.A841V Substitution - Missense 11:118386526-118386526 + TCGA-AA-3715-01 COSM270493 c.2048T>C p.L683P Substitution - Missense 11:118382606-118382606 + LS180 COSM2105294 c.3176A>G p.Q1059R Substitution - Missense 11:118396394-118396394 + RC-11 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + RC-13 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + C086 COSM5541269 c.1085C>T p.P362L Substitution - Missense 11:118373633-118373633 + HCC2998 COSM1676462 c.2866C>T p.R956* Substitution - Nonsense 11:118390733-118390733 + HCC2998 COSM1676462 c.2866C>T p.R956* Substitution - Nonsense 11:118390733-118390733 + TCGA-FS-A1ZQ-06 COSM3443931 c.2363C>T p.P788L Substitution - Missense 11:118384875-118384875 + TCGA-ER-A19H-06 COSM3443927 c.1161G>A p.K387K Substitution - coding silent 11:118374919-118374919 + TCGA-F1-6874-01 COSM4018277 c.2218G>C p.G740R Substitution - Missense 11:118382776-118382776 + 1N31-VS-1T31 COSM4974255 c.1984G>A p.E662K Substitution - Missense 11:118381477-118381477 + RC-19 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + CSCC-27-T COSM4512404 c.901C>T p.L301L Substitution - coding silent 11:118373244-118373244 + TCGA-BR-4280-01 COSM4018270 c.1136A>G p.Q379R Substitution - Missense 11:118373684-118373684 + TCGA-BS-A0UF-01 COSM923552 c.1019T>G p.I340S Substitution - Missense 11:118373567-118373567 + TCGA-AA-3672-01 COSM267715 c.1466T>C p.M489T Substitution - Missense 11:118375224-118375224 + PD18286a COSM3770659 c.2305C>T p.R769W Substitution - Missense 11:118384721-118384721 + TCGA-AP-A059-01 COSM923564 c.3174C>A p.I1058I Substitution - coding silent 11:118396392-118396392 + TCGA-EE-A29P-06 COSM3443924 c.264C>T p.I88I Substitution - coding silent 11:118368773-118368773 + RMS111_ COSM4987544 c.1028T>C p.I343T Substitution - Missense 11:118373576-118373576 + TCGA-CG-4442-01 COSM4018278 c.2270C>A p.P757H Substitution - Missense 11:118384686-118384686 + HCA7 COSM4611959 c.1900delT p.F635fs*41 Deletion - Frameshift 11:118381393-118381393 + CHC197T COSM5419821 c.2433+3delA p.? Unknown 11:118384948-118384948 + TCGA-BR-7707-01 COSM4018273 c.2005A>G p.T669A Substitution - Missense 11:118381498-118381498 + tumor_4133263 COSM5947872 c.2691C>G p.G897G Substitution - coding silent 11:118389807-118389807 + TCGA-AA-A010-01 COSM286241 c.3055G>T p.V1019F Substitution - Missense 11:118392855-118392855 + HCC2157 COSM23448 c.1458T>C p.N486N Substitution - coding silent 11:118375216-118375216 + T3266 COSM2105275 c.2135G>A p.R712Q Substitution - Missense 11:118382693-118382693 + TCGA-G3-A6UC-01 COSM4929755 c.1356A>G p.L452L Substitution - coding silent 11:118375114-118375114 + RC-3 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + TCGA-AX-A05Z-01 COSM923546 c.183C>T p.F61F Substitution - coding silent 11:118368692-118368692 + 30996 COSM5044148 c.2950C>T p.L984F Substitution - Missense 11:118392750-118392750 + TCGA-AP-A056-01 COSM923559 c.2209G>A p.E737K Substitution - Missense 11:118382767-118382767 + TCGA-BR-8059-01 COSM4018276 c.2198T>C p.F733S Substitution - Missense 11:118382756-118382756 + ESCC-015T COSM3935336 c.1299C>T p.F433F Substitution - coding silent 11:118375057-118375057 + LS411 COSM2105245 c.518delT p.C175fs*56 Deletion - Frameshift 11:118371623-118371623 + C91 COSM170045 c.1899A>T p.E633D Substitution - Missense 11:118381392-118381392 + TCGA-EE-A2MD-06 COSM3443930 c.1949C>T p.A650V Substitution - Missense 11:118381442-118381442 + H650 COSM1194304 c.1504G>C p.V502L Substitution - Missense 11:118376606-118376606 + TCGA-D1-A17Q-01 COSM923557 c.1770C>T p.N590N Substitution - coding silent 11:118379623-118379623 + TCGA-09-1669-01 COSM78740 c.2749C>A p.Q917K Substitution - Missense 11:118389865-118389865 + TCGA-AP-A059-01 COSM923553 c.1046C>A p.T349N Substitution - Missense 11:118373594-118373594 + TCGA-L6-A4ET-01 COSM3368233 c.373G>C p.D125H Substitution - Missense 11:118369500-118369500 + TCGA-A3-3380-01 COSM1492450 c.1371C>A p.C457* Substitution - Nonsense 11:118375129-118375129 + BD114T COSM5503826 c.737A>C p.K246T Substitution - Missense 11:118372682-118372682 + CPCG0260-F1 COSM2105241 c.217C>T p.R73* Substitution - Nonsense 11:118368726-118368726 + RC-2 COSM328538 c.2398A>C p.N800H Substitution - Missense 11:118384910-118384910 + 587376 COSM1231575 c.2786T>G p.L929R Substitution - Missense 11:118389902-118389902 + TCGA-AA-A00N-01 COSM277984 c.632G>A p.R211Q Substitution - Missense 11:118372577-118372577 + 2492703 COSM5600811 c.2111C>T p.P704L Substitution - Missense 11:118382669-118382669 + 12T COSM73183 c.2098C>G p.Q700E Substitution - Missense 11:118382656-118382656 + TCGA-F5-6814-01 COSM3415570 c.1002G>T p.K334N Substitution - Missense 11:118373550-118373550 + TCGA-CG-4440-01 COSM4018268 c.148T>G p.S50A Substitution - Missense 11:118368657-118368657 + EV005-R7 COSM4410731 c.1394T>C p.L465P Substitution - Missense 11:118375152-118375152 + TCGA-A6-5661-01 COSM1351587 c.1515G>A p.P505P Substitution - coding silent 11:118376617-118376617 + 2492701 COSM5600811 c.2111C>T p.P704L Substitution - Missense 11:118382669-118382669 + YUAKER COSM1704621 c.3203A>G p.Q1068R Substitution - Missense 11:118396421-118396421 + TCGA-EB-A5UL-06 COSM3443928 c.1198C>T p.P400S Substitution - Missense 11:118374956-118374956 + 474 COSM4438235 c.1681G>T p.A561S Substitution - Missense 11:118379534-118379534 + 2012-693:2012-1306-T COSM4605797 c.68C>A p.A23D Substitution - Missense 11:118365148-118365148 + Pat_41_B COSM5837917 c.3004C>T p.P1002S Substitution - Missense 11:118392804-118392804 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.75275 11q23.3 603753

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer ACAG - Frameshift p.T954Ffs*4 c.2860_2863delACAG 11 118261438 OV A C Missense p.D251A c.752A>C 11 118243810 HNSC A G 3-UTRSNV . c.3219+1947A>G 11 118269099 HC A G Missense p.D48G c.143A>G 11 118239367 BRCA A G Missense p.Q379R c.1136A>G 11 118244399 STAD A G Missense p.Q848R c.2543A>G 11 118257262 BLCA A T Missense p.N796Y c.2386A>T 11 118255613 GBM C A Missense p.F181L c.543C>A 11 118242363 CM C A Missense p.P1037T c.3109C>A 11 118267042 HC C A Missense p.Q917K c.2749C>A 11 118260580 OV CC TT Missense p.P1042L c.3125_3126delinsTT 11 118267058 HNSC C G Missense p.L605V c.1813C>G 11 118250381 HNSC C G Missense p.Q700E c.2098C>G 11 118253371 OV C G Missense p.S179C c.536C>G 11 118242356 BLCA C G Synonymous p.L449L c.1347C>G 11 118245820 CM C T Missense p.A650V c.1949C>T 11 118252157 CM C T Missense p.L162F c.484C>T 11 118242304 CM C T Missense p.P1002S c.3004C>T 11 118263519 HNSC C T Missense p.P1050S c.3148C>T 11 118267081 CM C T Missense p.P110S c.328C>T 11 118240170 CM C T Missense p.P788L c.2363C>T 11 118255590 CM C T Missense p.R565C c.1693C>T 11 118250261 CM C T Missense p.S597F c.1790C>T 11 118250358 LUAD C T Nonsense p.R211* c.631C>T 11 118243291 STAD C T Nonsense p.R73* c.217C>T 11 118239441 CM C T Synonymous p.F61F c.183C>T 11 118239407 LGG C T Synonymous p.I539I c.1617C>T 11 118250185 CM C T Synonymous p.I88I c.264C>T 11 118239488 CM C T Synonymous p.S365S c.1095C>T 11 118244358 CM C T Synonymous p.S46S c.138C>T 11 118239362 CM C T Synonymous p.T669T c.2007C>T 11 118252215 CM G A Missense p.E616K c.1846G>A 11 118250414 HNSC G A Missense p.E827K c.2479G>A 11 118257198 HNSC G A Missense p.R70H c.209G>A 11 118239433 UCEC G A SpliceAcceptorSNV . c.2609-1G>A 11 118260439 HNSC G A Synonymous p.E1064E c.3192G>A 11 118267125 CM G A Synonymous p.K387K c.1161G>A 11 118245634 CM G A Synonymous p.L1007L c.3021G>A 11 118263536 HNSC G A Synonymous p.R90R c.270G>A 11 118239494 CM G C Missense p.E1064D c.3192G>C 11 118267125 BLCA G C Missense p.G740R c.2218G>C 11 118253491 STAD G C Missense p.Q1047H c.3141G>C 11 118267074 BLCA G C Missense p.R851P c.2552G>C 11 118257271 BRCA G C Missense p.V1012L c.3034G>C 11 118263549 RCCC G C SpliceAcceptorSNV . c.122-1G>C 11 118239345 HNSC G T Missense p.D801Y c.2401G>T 11 118255628 CM G T Missense p.E822D c.2466G>T 11 118257185 HNSC G T Nonsense p.E481* c.1441G>T 11 118245914 BRCA G T Nonsense p.E933* c.2797G>T 11 118261379 BRCA G T Nonsense p.E989* c.2965G>T 11 118263480 LUAD G T Synonymous p.S50S c.150G>T 11 118239374 CM T C 3-UTRSNV . c.3219+2343T>C 11 118269495 MB T C Missense p.L831P c.2492T>C 11 118257211 COREAD T - Frameshift p.F671Sfs*5 c.2012delT 11 118252217 STAD T G Missense p.I758S c.2273T>G 11 118255404 BRCA T G Missense p.S50A c.148T>G 11 118239372 STAD