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 47595284 47595284 + Missense_Mutation SNP G G A TCGA-2F-A9KQ-01A-11D-A38G-08 TCGA-2F-A9KQ-11A-11D-A38J-08 g.chr11:47595284G>A c.755C>T c.(754-756)tCg>tTg p.S252L BLCA 11 47598965 47598965 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr11:47598965G>A c.587C>T c.(586-588)tCg>tTg p.S196L BLCA 11 47599018 47599018 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr11:47599018C>T c.534G>A c.(532-534)caG>caA p.Q178Q BRCA 11 47594816 47594816 + Missense_Mutation SNP T T C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 g.chr11:47594816T>C c.1223A>G c.(1222-1224)gAc>gGc p.D408G BRCA 11 47594846 47594846 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr11:47594846C>T c.1193G>A c.(1192-1194)cGa>cAa p.R398Q BRCA 11 47594883 47594883 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr11:47594883delC c.1156delG c.(1156-1158)gagfs p.E387fs BRCA 11 47597215 47597215 + Missense_Mutation SNP A A G TCGA-E9-A3Q9-01A-11D-A21Q-09 TCGA-E9-A3Q9-10A-01D-A21Q-09 g.chr11:47597215A>G c.626T>C c.(625-627)aTa>aCa p.I209T BRCA 11 47599060 47599060 + Silent SNP C C A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 g.chr11:47599060C>A c.492G>T c.(490-492)acG>acT p.T164T BRCA 11 47599398 47599398 + Missense_Mutation SNP C C T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 g.chr11:47599398C>T c.154G>A c.(154-156)Gaa>Aaa p.E52K BRCA 11 47599443 47599444 + Frame_Shift_Ins INS - - A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 g.chr11:47599443_47599444insA c.108_109insT c.(106-111)aaactgfs p.L37fs BRCA 11 47599453 47599453 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr11:47599453G>A c.99C>T c.(97-99)ggC>ggT p.G33G CESC 11 47595183 47595183 + Missense_Mutation SNP C C G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 g.chr11:47595183C>G c.856G>C c.(856-858)Gac>Cac p.D286H CESC 11 47599541 47599541 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 g.chr11:47599541G>T c.11C>A c.(10-12)cCa>cAa p.P4Q CHOL 11 47594521 47594521 + Missense_Mutation SNP A A C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr11:47594521A>C c.1518T>G c.(1516-1518)atT>atG p.I506M COAD 11 47594576 47594576 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr11:47594576G>A c.1463C>T c.(1462-1464)gCc>gTc p.A488V COAD 11 47594601 47594601 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr11:47594601G>A c.1438C>T c.(1438-1440)Cgg>Tgg p.R480W COAD 11 47594774 47594774 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr11:47594774C>T c.1265G>A c.(1264-1266)cGc>cAc p.R422H COAD 11 47594820 47594821 + Frame_Shift_Del DEL TC TC - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:47594820_47594821delTC c.1218_1219delGA c.(1216-1221)gagacafs p.ET406fs COAD 11 47594883 47594883 + Frame_Shift_Del DEL C C - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:47594883delC c.1156delG c.(1156-1158)gagfs p.E387fs COAD 11 47594883 47594883 + Frame_Shift_Del DEL C C - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr11:47594883delC c.1156delG c.(1156-1158)gagfs p.E387fs COAD 11 47594908 47594908 + Silent SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr11:47594908G>A c.1131C>T c.(1129-1131)aaC>aaT p.N377N COAD 11 47595137 47595137 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:47595137C>T c.902G>A c.(901-903)tGc>tAc p.C301Y COAD 11 47597234 47597234 + Nonsense_Mutation SNP G G A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr11:47597234G>A c.607C>T c.(607-609)Cag>Tag p.Q203* COAD 11 47599025 47599025 + Missense_Mutation SNP T T G TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr11:47599025T>G c.527A>C c.(526-528)cAg>cCg p.Q176P COADREAD 11 47594576 47594576 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr11:47594576G>A c.1463C>T c.(1462-1464)gCc>gTc p.A488V COADREAD 11 47594601 47594601 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr11:47594601G>A c.1438C>T c.(1438-1440)Cgg>Tgg p.R480W COADREAD 11 47594774 47594774 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr11:47594774C>T c.1265G>A c.(1264-1266)cGc>cAc p.R422H COADREAD 11 47594820 47594821 + Frame_Shift_Del DEL TC TC - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:47594820_47594821delTC c.1218_1219delGA c.(1216-1221)gagacafs p.ET406fs COADREAD 11 47594883 47594883 + Frame_Shift_Del DEL C C - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:47594883delC c.1156delG c.(1156-1158)gagfs p.E387fs COADREAD 11 47594883 47594883 + Frame_Shift_Del DEL C C - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr11:47594883delC c.1156delG c.(1156-1158)gagfs p.E387fs COADREAD 11 47594908 47594908 + Silent SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr11:47594908G>A c.1131C>T c.(1129-1131)aaC>aaT p.N377N COADREAD 11 47595137 47595137 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:47595137C>T c.902G>A c.(901-903)tGc>tAc p.C301Y COADREAD 11 47597234 47597234 + Nonsense_Mutation SNP G G A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr11:47597234G>A c.607C>T c.(607-609)Cag>Tag p.Q203* COADREAD 11 47599025 47599025 + Missense_Mutation SNP T T G TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr11:47599025T>G c.527A>C c.(526-528)cAg>cCg p.Q176P ESCA 11 47599482 47599482 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr11:47599482G>A c.70C>T c.(70-72)Cgg>Tgg p.R24W GBM 11 47594600 47594600 + Missense_Mutation SNP C C G TCGA-06-6695-01A-11D-1845-08 TCGA-06-6695-10A-01D-1845-08 g.chr11:47594600C>G c.1439G>C c.(1438-1440)cGg>cCg p.R480P GBMLGG 11 47594600 47594600 + Missense_Mutation SNP C C G TCGA-06-6695-01A-11D-1845-08 TCGA-06-6695-10A-01D-1845-08 g.chr11:47594600C>G c.1439G>C c.(1438-1440)cGg>cCg p.R480P GBMLGG 11 47594890 47594890 + Frame_Shift_Del DEL T T - TCGA-QH-A6CW-01A-11D-A32B-08 TCGA-QH-A6CW-10B-01D-A329-08 g.chr11:47594890delT c.1149delA c.(1147-1149)ctafs p.L383fs GBMLGG 11 47597155 47597155 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 g.chr11:47597155G>A c.686C>T c.(685-687)aCa>aTa p.T229I GBMLGG 11 47599055 47599055 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:47599055G>T c.497C>A c.(496-498)gCc>gAc p.A166D HNSC 11 47594881 47594881 + Silent SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 g.chr11:47594881C>T c.1158G>A c.(1156-1158)gaG>gaA p.E386E HNSC 11 47594940 47594940 + Frame_Shift_Del DEL C C - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr11:47594940delC c.1099delG c.(1099-1101)gctfs p.A367fs HNSC 11 47595031 47595031 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr11:47595031A>G c.1008T>C c.(1006-1008)ggT>ggC p.G336G HNSC 11 47595145 47595145 + Missense_Mutation SNP C C T TCGA-UF-A7JT-01A-11D-A34J-08 TCGA-UF-A7JT-10A-01D-A34M-08 g.chr11:47595145C>T c.894G>A c.(892-894)atG>atA p.M298I HNSC 11 47598968 47598971 + Frame_Shift_Del DEL ATGA ATGA - TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chr11:47598968_47598971delATGA c.581_584delTCAT c.(580-585)atcatcfs p.II194fs HNSC 11 47599055 47599055 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr11:47599055G>A c.497C>T c.(496-498)gCc>gTc p.A166V KIPAN 11 47597183 47597183 + Frame_Shift_Del DEL T T - TCGA-BQ-7060-01A-11D-1961-08 TCGA-BQ-7060-11A-01D-1961-08 g.chr11:47597183delT c.658delA c.(658-660)agafs p.R220fs KIPAN 11 47599123 47599123 + Silent SNP T T C TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr11:47599123T>C c.429A>G c.(427-429)caA>caG p.Q143Q KIPAN 11 47599226 47599226 + Missense_Mutation SNP T T G TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr11:47599226T>G c.326A>C c.(325-327)aAa>aCa p.K109T KIRC 11 47599123 47599123 + Silent SNP T T C TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr11:47599123T>C c.429A>G c.(427-429)caA>caG p.Q143Q KIRC 11 47599226 47599226 + Missense_Mutation SNP T T G TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr11:47599226T>G c.326A>C c.(325-327)aAa>aCa p.K109T KIRP 11 47597183 47597183 + Frame_Shift_Del DEL T T - TCGA-BQ-7060-01A-11D-1961-08 TCGA-BQ-7060-11A-01D-1961-08 g.chr11:47597183delT c.658delA c.(658-660)agafs p.R220fs LGG 11 47594890 47594890 + Frame_Shift_Del DEL T T - TCGA-QH-A6CW-01A-11D-A32B-08 TCGA-QH-A6CW-10B-01D-A329-08 g.chr11:47594890delT c.1149delA c.(1147-1149)ctafs p.L383fs LGG 11 47597155 47597155 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 g.chr11:47597155G>A c.686C>T c.(685-687)aCa>aTa p.T229I LGG 11 47599055 47599055 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:47599055G>T c.497C>A c.(496-498)gCc>gAc p.A166D LIHC 11 47594682 47594682 + Silent SNP G G T TCGA-G3-AAV3-01A-11D-A36X-10 TCGA-G3-AAV3-10A-01D-A370-10 g.chr11:47594682G>T c.1357C>A c.(1357-1359)Cgg>Agg p.R453R LIHC 11 47599068 47599068 + Missense_Mutation SNP G G A TCGA-DD-AADN-01A-11D-A40R-10 TCGA-DD-AADN-10A-01D-A40U-10 g.chr11:47599068G>A c.484C>T c.(484-486)Ctc>Ttc p.L162F LUAD 11 47599071 47599071 + Missense_Mutation SNP C C G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr11:47599071C>G c.481G>C c.(481-483)Gag>Cag p.E161Q LUAD 11 47599534 47599534 + Missense_Mutation SNP C C A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr11:47599534C>A c.18G>T c.(16-18)gaG>gaT p.E6D LUSC 11 47594781 47594781 + Missense_Mutation SNP C C A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr11:47594781C>A c.1258G>T c.(1258-1260)Gca>Tca p.A420S LUSC 11 47595120 47595120 + Missense_Mutation SNP C C A TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr11:47595120C>A c.919G>T c.(919-921)Gac>Tac p.D307Y LUSC 11 47595308 47595308 + Missense_Mutation SNP C C A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr11:47595308C>A c.731G>T c.(730-732)gGg>gTg p.G244V LUSC 11 47597189 47597189 + Missense_Mutation SNP C C T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr11:47597189C>T c.652G>A c.(652-654)Gag>Aag p.E218K OV 11 47594667 47594667 + Missense_Mutation SNP C C G TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 g.chr11:47594667C>G c.1372G>C c.(1372-1374)Gag>Cag p.E458Q OV 11 47597234 47597234 + Missense_Mutation SNP G G T TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 g.chr11:47597234G>T c.607C>A c.(607-609)Cag>Aag p.Q203K PAAD 11 47595092 47595094 + In_Frame_Del DEL CGA CGA - TCGA-S4-A8RO-01A-12D-A377-08 TCGA-S4-A8RO-10A-01D-A37A-08 g.chr11:47595092_47595094delCGA c.945_947delTCG c.(943-948)cctcgg>ccg p.R316del PAAD 11 47599139 47599139 + Frame_Shift_Del DEL A A - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chr11:47599139delA c.413delT c.(412-414)ttgfs p.L138fs PAAD 11 47599139 47599139 + Frame_Shift_Del DEL A A - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr11:47599139delA c.413delT c.(412-414)ttgfs p.L138fs PAAD 11 47599139 47599139 + Frame_Shift_Del DEL A A - TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 g.chr11:47599139delA c.413delT c.(412-414)ttgfs p.L138fs PRAD 11 47599542 47599542 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:47599542G>A c.10C>T c.(10-12)Cca>Tca p.P4S SARC 11 47594902 47594902 + Silent SNP G G A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 g.chr11:47594902G>A c.1137C>T c.(1135-1137)atC>atT p.I379I SKCM 11 47595161 47595161 + Missense_Mutation SNP G G A TCGA-D3-A5GR-06A-11D-A27K-08 TCGA-D3-A5GR-10A-01D-A27N-08 g.chr11:47595161G>A c.878C>T c.(877-879)tCc>tTc p.S293F SKCM 11 47599139 47599139 + Frame_Shift_Del DEL A A - TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr11:47599139delA c.413delT c.(412-414)ttgfs p.L138fs SKCM 11 47599198 47599198 + Silent SNP A A T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr11:47599198A>T c.354T>A c.(352-354)atT>atA p.I118I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 11 47594575 47594575 single base substitution G A downstream_gene_variant BLCA-CN 11 47594575 47594575 single base substitution G A synonymous_variant A488A 1464C>T BLCA-CN 11 47594575 47594575 single base substitution G A synonymous_variant A504A 1512C>T BLCA-CN 11 47594575 47594575 single base substitution G A synonymous_variant A513A 1539C>T BLCA-CN 11 47594635 47594635 single base substitution C G downstream_gene_variant BLCA-CN 11 47594635 47594635 single base substitution C G missense_variant K468N 1404G>C BLCA-CN 11 47594635 47594635 single base substitution C G missense_variant K484N 1452G>C BLCA-CN 11 47594635 47594635 single base substitution C G missense_variant K493N 1479G>C BLCA-CN 11 47595171 47595171 single base substitution C T downstream_gene_variant BLCA-CN 11 47595171 47595171 single base substitution C T missense_variant V290M 868G>A BLCA-CN 11 47595171 47595171 single base substitution C T missense_variant V306M 916G>A BLCA-CN 11 47595171 47595171 single base substitution C T missense_variant V315M 943G>A BLCA-CN 11 47599318 47599318 single base substitution C T 3_prime_UTR_variant BLCA-CN 11 47599318 47599318 single base substitution C T synonymous_variant L103L 309G>A BLCA-CN 11 47599318 47599318 single base substitution C T synonymous_variant L127L 381G>A BLCA-CN 11 47599318 47599318 single base substitution C T synonymous_variant L78L 234G>A BLCA-CN 11 47599318 47599318 single base substitution C T synonymous_variant L94L 282G>A BLCA-CN 11 47599428 47599428 single base substitution C A 3_prime_UTR_variant BLCA-CN 11 47599428 47599428 single base substitution C A stop_gained E42* 124G>T BLCA-CN 11 47599428 47599428 single base substitution C A stop_gained E58* 172G>T BLCA-CN 11 47599428 47599428 single base substitution C A stop_gained E67* 199G>T BLCA-CN 11 47599428 47599428 single base substitution C A stop_gained E91* 271G>T BLCA-CN 11 47600863 47600863 single base substitution A G upstream_gene_variant BRCA-EU 11 47590257 47590257 single base substitution T A downstream_gene_variant BRCA-EU 11 47590771 47590771 single base substitution C G downstream_gene_variant BRCA-EU 11 47591209 47591209 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 47591689 47591689 single base substitution G A downstream_gene_variant BRCA-EU 11 47593036 47593036 single base substitution G T downstream_gene_variant BRCA-EU 11 47593320 47593320 single base substitution G A downstream_gene_variant BRCA-EU 11 47593361 47593361 single base substitution G C downstream_gene_variant BRCA-EU 11 47593412 47593412 insertion of <=200bp - A downstream_gene_variant BRCA-EU 11 47593803 47593803 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 47593803 47593803 single base substitution G A downstream_gene_variant BRCA-EU 11 47594303 47594303 single base substitution G C 3_prime_UTR_variant BRCA-EU 11 47594303 47594303 single base substitution G C downstream_gene_variant BRCA-EU 11 47595247 47595247 single base substitution G T downstream_gene_variant BRCA-EU 11 47595247 47595247 single base substitution G T synonymous_variant S264S 792C>A BRCA-EU 11 47595247 47595247 single base substitution G T synonymous_variant S280S 840C>A BRCA-EU 11 47595247 47595247 single base substitution G T synonymous_variant S289S 867C>A BRCA-EU 11 47595505 47595505 single base substitution G C downstream_gene_variant BRCA-EU 11 47595505 47595505 single base substitution G C intron_variant BRCA-EU 11 47596325 47596325 single base substitution G T downstream_gene_variant BRCA-EU 11 47596325 47596325 single base substitution G T intron_variant BRCA-EU 11 47599107 47599107 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 47599107 47599107 single base substitution G A stop_gained Q149* 445C>T BRCA-EU 11 47599107 47599107 single base substitution G A stop_gained Q165* 493C>T BRCA-EU 11 47599107 47599107 single base substitution G A stop_gained Q174* 520C>T BRCA-EU 11 47599107 47599107 single base substitution G A stop_gained Q198* 592C>T BRCA-EU 11 47599107 47599107 single base substitution G A synonymous_variant ?174 BRCA-EU 11 47600553 47600553 single base substitution A T 5_prime_UTR_variant BRCA-EU 11 47600553 47600553 single base substitution A T upstream_gene_variant BRCA-EU 11 47600554 47600560 deletion of <=200bp TCTGCTG - 5_prime_UTR_variant BRCA-EU 11 47600554 47600560 deletion of <=200bp TCTGCTG - upstream_gene_variant BRCA-EU 11 47601731 47601731 single base substitution C T upstream_gene_variant BRCA-EU 11 47602413 47602413 single base substitution C T upstream_gene_variant BRCA-EU 11 47602948 47602948 single base substitution C G upstream_gene_variant BRCA-EU 11 47603690 47603690 single base substitution G C upstream_gene_variant BRCA-EU 11 47604442 47604442 single base substitution A C upstream_gene_variant BRCA-FR 11 47591689 47591689 single base substitution G A downstream_gene_variant BRCA-FR 11 47593036 47593036 single base substitution G T downstream_gene_variant BRCA-FR 11 47602413 47602413 single base substitution C T upstream_gene_variant BRCA-FR 11 47602948 47602948 single base substitution C G upstream_gene_variant BRCA-UK 11 47591273 47591273 single base substitution G A downstream_gene_variant BRCA-UK 11 47594842 47594842 single base substitution G A downstream_gene_variant BRCA-UK 11 47594842 47594842 single base substitution G A synonymous_variant L399L 1197C>T BRCA-UK 11 47594842 47594842 single base substitution G A synonymous_variant L415L 1245C>T BRCA-UK 11 47594842 47594842 single base substitution G A synonymous_variant L424L 1272C>T BRCA-UK 11 47599340 47599340 single base substitution C T 3_prime_UTR_variant BRCA-UK 11 47599340 47599340 single base substitution C T missense_variant R120Q 359G>A BRCA-UK 11 47599340 47599340 single base substitution C T missense_variant R71Q 212G>A BRCA-UK 11 47599340 47599340 single base substitution C T missense_variant R87Q 260G>A BRCA-UK 11 47599340 47599340 single base substitution C T missense_variant R96Q 287G>A BRCA-US 11 47594816 47594816 single base substitution T C downstream_gene_variant BRCA-US 11 47594816 47594816 single base substitution T C missense_variant D408G 1223A>G BRCA-US 11 47594816 47594816 single base substitution T C missense_variant D424G 1271A>G BRCA-US 11 47594816 47594816 single base substitution T C missense_variant D433G 1298A>G BRCA-US 11 47594846 47594846 single base substitution C T downstream_gene_variant BRCA-US 11 47594846 47594846 single base substitution C T missense_variant R398Q 1193G>A BRCA-US 11 47594846 47594846 single base substitution C T missense_variant R414Q 1241G>A BRCA-US 11 47594846 47594846 single base substitution C T missense_variant R423Q 1268G>A BRCA-US 11 47594883 47594883 deletion of <=200bp C - downstream_gene_variant BRCA-US 11 47594883 47594883 deletion of <=200bp C - frameshift_variant E386 BRCA-US 11 47594883 47594883 deletion of <=200bp C - frameshift_variant E402 BRCA-US 11 47594883 47594883 deletion of <=200bp C - frameshift_variant E411 BRCA-US 11 47597215 47597215 single base substitution A G 3_prime_UTR_variant BRCA-US 11 47597215 47597215 single base substitution A G downstream_gene_variant BRCA-US 11 47597215 47597215 single base substitution A G missense_variant I209T 626T>C BRCA-US 11 47597215 47597215 single base substitution A G missense_variant I225T 674T>C BRCA-US 11 47597215 47597215 single base substitution A G missense_variant I234T 701T>C BRCA-US 11 47597215 47597215 single base substitution A G missense_variant I258T 773T>C BRCA-US 11 47599060 47599060 single base substitution C A 3_prime_UTR_variant BRCA-US 11 47599060 47599060 single base substitution C A downstream_gene_variant BRCA-US 11 47599060 47599060 single base substitution C A synonymous_variant T164T 492G>T BRCA-US 11 47599060 47599060 single base substitution C A synonymous_variant T180T 540G>T BRCA-US 11 47599060 47599060 single base substitution C A synonymous_variant T189T 567G>T BRCA-US 11 47599060 47599060 single base substitution C A synonymous_variant T213T 639G>T BRCA-US 11 47599398 47599398 single base substitution C T 3_prime_UTR_variant BRCA-US 11 47599398 47599398 single base substitution C T missense_variant E101K 301G>A BRCA-US 11 47599398 47599398 single base substitution C T missense_variant E52K 154G>A BRCA-US 11 47599398 47599398 single base substitution C T missense_variant E68K 202G>A BRCA-US 11 47599398 47599398 single base substitution C T missense_variant E77K 229G>A BRCA-US 11 47599443 47599443 insertion of <=200bp - A 3_prime_UTR_variant BRCA-US 11 47599443 47599443 insertion of <=200bp - A frameshift_variant L37L? BRCA-US 11 47599443 47599443 insertion of <=200bp - A frameshift_variant L53L? BRCA-US 11 47599443 47599443 insertion of <=200bp - A frameshift_variant L62L? BRCA-US 11 47599443 47599443 insertion of <=200bp - A frameshift_variant L86L? BRCA-US 11 47599453 47599453 single base substitution G A 3_prime_UTR_variant BRCA-US 11 47599453 47599453 single base substitution G A synonymous_variant G33G 99C>T BRCA-US 11 47599453 47599453 single base substitution G A synonymous_variant G49G 147C>T BRCA-US 11 47599453 47599453 single base substitution G A synonymous_variant G58G 174C>T BRCA-US 11 47599453 47599453 single base substitution G A synonymous_variant G82G 246C>T BTCA-JP 11 47594797 47594797 single base substitution G T downstream_gene_variant BTCA-JP 11 47594797 47594797 single base substitution G T synonymous_variant P414P 1242C>A BTCA-JP 11 47594797 47594797 single base substitution G T synonymous_variant P430P 1290C>A BTCA-JP 11 47594797 47594797 single base substitution G T synonymous_variant P439P 1317C>A BTCA-JP 11 47600540 47600540 single base substitution C T 5_prime_UTR_variant BTCA-JP 11 47600540 47600540 single base substitution C T upstream_gene_variant CESC-US 11 47595183 47595183 single base substitution C G downstream_gene_variant CESC-US 11 47595183 47595183 single base substitution C G missense_variant D286H 856G>C CESC-US 11 47595183 47595183 single base substitution C G missense_variant D302H 904G>C CESC-US 11 47595183 47595183 single base substitution C G missense_variant D311H 931G>C CESC-US 11 47599541 47599541 single base substitution G T 3_prime_UTR_variant CESC-US 11 47599541 47599541 single base substitution G T missense_variant P20Q 59C>A CESC-US 11 47599541 47599541 single base substitution G T missense_variant P29Q 86C>A CESC-US 11 47599541 47599541 single base substitution G T missense_variant P4Q 11C>A CESC-US 11 47599541 47599541 single base substitution G T missense_variant P53Q 158C>A CESC-US 11 47602402 47602402 single base substitution G A upstream_gene_variant CLLE-ES 11 47598970 47598970 single base substitution G T 3_prime_UTR_variant CLLE-ES 11 47598970 47598970 single base substitution G T downstream_gene_variant CLLE-ES 11 47598970 47598970 single base substitution G T synonymous_variant I194I 582C>A CLLE-ES 11 47598970 47598970 single base substitution G T synonymous_variant I210I 630C>A CLLE-ES 11 47598970 47598970 single base substitution G T synonymous_variant I219I 657C>A CLLE-ES 11 47598970 47598970 single base substitution G T synonymous_variant I243I 729C>A COAD-US 11 47593062 47593062 single base substitution G A downstream_gene_variant COAD-US 11 47594576 47594576 single base substitution G A downstream_gene_variant COAD-US 11 47594576 47594576 single base substitution G A missense_variant A488V 1463C>T COAD-US 11 47594576 47594576 single base substitution G A missense_variant A504V 1511C>T COAD-US 11 47594576 47594576 single base substitution G A missense_variant A513V 1538C>T COAD-US 11 47594601 47594601 single base substitution G A downstream_gene_variant COAD-US 11 47594601 47594601 single base substitution G A missense_variant R480W 1438C>T COAD-US 11 47594601 47594601 single base substitution G A missense_variant R496W 1486C>T COAD-US 11 47594601 47594601 single base substitution G A missense_variant R505W 1513C>T COAD-US 11 47594774 47594774 single base substitution C T downstream_gene_variant COAD-US 11 47594774 47594774 single base substitution C T missense_variant R422H 1265G>A COAD-US 11 47594774 47594774 single base substitution C T missense_variant R438H 1313G>A COAD-US 11 47594774 47594774 single base substitution C T missense_variant R447H 1340G>A COAD-US 11 47594820 47594821 deletion of <=200bp TC - downstream_gene_variant COAD-US 11 47594820 47594821 deletion of <=200bp TC - frameshift_variant ET406 COAD-US 11 47594820 47594821 deletion of <=200bp TC - frameshift_variant ET422 COAD-US 11 47594820 47594821 deletion of <=200bp TC - frameshift_variant ET431 COAD-US 11 47594908 47594908 single base substitution G A downstream_gene_variant COAD-US 11 47594908 47594908 single base substitution G A synonymous_variant N377N 1131C>T COAD-US 11 47594908 47594908 single base substitution G A synonymous_variant N393N 1179C>T COAD-US 11 47594908 47594908 single base substitution G A synonymous_variant N402N 1206C>T COAD-US 11 47595137 47595137 single base substitution C T downstream_gene_variant COAD-US 11 47595137 47595137 single base substitution C T missense_variant C301Y 902G>A COAD-US 11 47595137 47595137 single base substitution C T missense_variant C317Y 950G>A COAD-US 11 47595137 47595137 single base substitution C T missense_variant C326Y 977G>A COAD-US 11 47600649 47600649 single base substitution G A upstream_gene_variant COAD-US 11 47602157 47602157 single base substitution T C upstream_gene_variant COCA-CN 11 47594984 47594984 single base substitution C T downstream_gene_variant COCA-CN 11 47594984 47594984 single base substitution C T missense_variant R352H 1055G>A COCA-CN 11 47594984 47594984 single base substitution C T missense_variant R368H 1103G>A COCA-CN 11 47594984 47594984 single base substitution C T missense_variant R377H 1130G>A COCA-CN 11 47595087 47595087 single base substitution G A downstream_gene_variant COCA-CN 11 47595087 47595087 single base substitution G A missense_variant R318W 952C>T COCA-CN 11 47595087 47595087 single base substitution G A missense_variant R334W 1000C>T COCA-CN 11 47595087 47595087 single base substitution G A missense_variant R343W 1027C>T COCA-CN 11 47595382 47595382 single base substitution C A downstream_gene_variant COCA-CN 11 47595382 47595382 single base substitution C A intron_variant COCA-CN 11 47597079 47597079 single base substitution C A downstream_gene_variant COCA-CN 11 47597079 47597079 single base substitution C A intron_variant COCA-CN 11 47600438 47600438 single base substitution C T 5_prime_UTR_variant COCA-CN 11 47600438 47600438 single base substitution C T intron_variant COCA-CN 11 47600438 47600438 single base substitution C T upstream_gene_variant COCA-CN 11 47602729 47602729 single base substitution C T upstream_gene_variant COCA-CN 11 47603664 47603664 single base substitution C T upstream_gene_variant COCA-CN 11 47603943 47603943 single base substitution C A upstream_gene_variant EOPC-DE 11 47594276 47594276 single base substitution G C 3_prime_UTR_variant EOPC-DE 11 47594276 47594276 single base substitution G C downstream_gene_variant ESAD-UK 11 47590981 47590981 single base substitution C G downstream_gene_variant ESAD-UK 11 47604544 47604544 single base substitution G A upstream_gene_variant GBM-US 11 47594600 47594600 single base substitution C G downstream_gene_variant GBM-US 11 47594600 47594600 single base substitution C G missense_variant R480P 1439G>C GBM-US 11 47594600 47594600 single base substitution C G missense_variant R496P 1487G>C GBM-US 11 47594600 47594600 single base substitution C G missense_variant R505P 1514G>C KIRC-US 11 47593082 47593082 single base substitution C A downstream_gene_variant KIRC-US 11 47599123 47599123 single base substitution T C 3_prime_UTR_variant KIRC-US 11 47599123 47599123 single base substitution T C synonymous_variant Q143Q 429A>G KIRC-US 11 47599123 47599123 single base substitution T C synonymous_variant Q159Q 477A>G KIRC-US 11 47599123 47599123 single base substitution T C synonymous_variant Q168Q 504A>G KIRC-US 11 47599123 47599123 single base substitution T C synonymous_variant Q192Q 576A>G KIRC-US 11 47599226 47599226 single base substitution T G 3_prime_UTR_variant KIRC-US 11 47599226 47599226 single base substitution T G missense_variant K109T 326A>C KIRC-US 11 47599226 47599226 single base substitution T G missense_variant K125T 374A>C KIRC-US 11 47599226 47599226 single base substitution T G missense_variant K134T 401A>C KIRC-US 11 47599226 47599226 single base substitution T G missense_variant K158T 473A>C KIRC-US 11 47602127 47602127 single base substitution G T upstream_gene_variant KIRP-US 11 47597183 47597183 deletion of <=200bp T - downstream_gene_variant KIRP-US 11 47597183 47597183 deletion of <=200bp T - frameshift_variant R220 KIRP-US 11 47597183 47597183 deletion of <=200bp T - frameshift_variant R236 KIRP-US 11 47597183 47597183 deletion of <=200bp T - frameshift_variant R245 KIRP-US 11 47597183 47597183 deletion of <=200bp T - frameshift_variant R269 KIRP-US 11 47604000 47604000 single base substitution C T upstream_gene_variant LGG-US 11 47603920 47603922 deletion of <=200bp TCT - upstream_gene_variant LICA-CN 11 47594989 47594989 single base substitution A C downstream_gene_variant LICA-CN 11 47594989 47594989 single base substitution A C stop_gained Y350* 1050T>G LICA-CN 11 47594989 47594989 single base substitution A C stop_gained Y366* 1098T>G LICA-CN 11 47594989 47594989 single base substitution A C stop_gained Y375* 1125T>G LICA-CN 11 47599009 47599009 single base substitution C A 3_prime_UTR_variant LICA-CN 11 47599009 47599009 single base substitution C A downstream_gene_variant LICA-CN 11 47599009 47599009 single base substitution C A missense_variant E181D 543G>T LICA-CN 11 47599009 47599009 single base substitution C A missense_variant E197D 591G>T LICA-CN 11 47599009 47599009 single base substitution C A missense_variant E206D 618G>T LICA-CN 11 47599009 47599009 single base substitution C A missense_variant E230D 690G>T LICA-CN 11 47599161 47599161 single base substitution A G 3_prime_UTR_variant LICA-CN 11 47599161 47599161 single base substitution A G missense_variant F131L 391T>C LICA-CN 11 47599161 47599161 single base substitution A G missense_variant F147L 439T>C LICA-CN 11 47599161 47599161 single base substitution A G missense_variant F156L 466T>C LICA-CN 11 47599161 47599161 single base substitution A G missense_variant F180L 538T>C LICA-FR 11 47588764 47588764 single base substitution G C downstream_gene_variant LINC-JP 11 47590459 47590459 single base substitution T G downstream_gene_variant LINC-JP 11 47591293 47591293 single base substitution A T downstream_gene_variant LINC-JP 11 47594609 47594609 insertion of <=200bp - TAGATGCTCCCGT downstream_gene_variant LINC-JP 11 47594609 47594609 insertion of <=200bp - TAGATGCTCCCGT frameshift_variant Y477*REHL? LINC-JP 11 47594609 47594609 insertion of <=200bp - TAGATGCTCCCGT frameshift_variant Y493*REHL? LINC-JP 11 47594609 47594609 insertion of <=200bp - TAGATGCTCCCGT frameshift_variant Y502*REHL? LINC-JP 11 47594724 47594724 insertion of <=200bp - C downstream_gene_variant LINC-JP 11 47594724 47594724 insertion of <=200bp - C frameshift_variant D439G? LINC-JP 11 47594724 47594724 insertion of <=200bp - C frameshift_variant D455G? LINC-JP 11 47594724 47594724 insertion of <=200bp - C frameshift_variant D464G? LINC-JP 11 47595396 47595396 single base substitution A G downstream_gene_variant LINC-JP 11 47595396 47595396 single base substitution A G intron_variant LINC-JP 11 47595699 47595699 single base substitution A C downstream_gene_variant LINC-JP 11 47595699 47595699 single base substitution A C intron_variant LINC-JP 11 47597427 47597427 single base substitution G T downstream_gene_variant LINC-JP 11 47597427 47597427 single base substitution G T intron_variant LIRI-JP 11 47590577 47590577 single base substitution T C downstream_gene_variant LIRI-JP 11 47591659 47591659 single base substitution G T downstream_gene_variant LIRI-JP 11 47592503 47592503 single base substitution G C downstream_gene_variant LIRI-JP 11 47593660 47593660 single base substitution G C downstream_gene_variant LIRI-JP 11 47593762 47593762 single base substitution T G 3_prime_UTR_variant LIRI-JP 11 47593762 47593762 single base substitution T G downstream_gene_variant LIRI-JP 11 47593768 47593768 single base substitution T G 3_prime_UTR_variant LIRI-JP 11 47593768 47593768 single base substitution T G downstream_gene_variant LIRI-JP 11 47594431 47594431 single base substitution T G 3_prime_UTR_variant LIRI-JP 11 47594431 47594431 single base substitution T G downstream_gene_variant LIRI-JP 11 47597766 47597766 single base substitution T C downstream_gene_variant LIRI-JP 11 47597766 47597766 single base substitution T C intron_variant LIRI-JP 11 47598555 47598555 insertion of <=200bp - T downstream_gene_variant LIRI-JP 11 47598555 47598555 insertion of <=200bp - T intron_variant LIRI-JP 11 47600918 47600918 single base substitution A C upstream_gene_variant LIRI-JP 11 47601858 47601858 single base substitution A G upstream_gene_variant LIRI-JP 11 47602018 47602018 single base substitution C T upstream_gene_variant LIRI-JP 11 47602299 47602299 single base substitution C G upstream_gene_variant LIRI-JP 11 47603959 47603959 single base substitution C G upstream_gene_variant LIRI-JP 11 47604005 47604005 single base substitution A G upstream_gene_variant LUSC-KR 11 47589131 47589131 single base substitution G T downstream_gene_variant LUSC-KR 11 47589396 47589396 single base substitution C A downstream_gene_variant LUSC-KR 11 47595284 47595284 single base substitution G A downstream_gene_variant LUSC-KR 11 47595284 47595284 single base substitution G A missense_variant S252L 755C>T LUSC-KR 11 47595284 47595284 single base substitution G A missense_variant S268L 803C>T LUSC-KR 11 47595284 47595284 single base substitution G A missense_variant S277L 830C>T LUSC-KR 11 47600438 47600438 single base substitution C T 5_prime_UTR_variant LUSC-KR 11 47600438 47600438 single base substitution C T intron_variant LUSC-KR 11 47600438 47600438 single base substitution C T upstream_gene_variant LUSC-KR 11 47600637 47600637 single base substitution G C upstream_gene_variant LUSC-US 11 47594781 47594781 single base substitution C A downstream_gene_variant LUSC-US 11 47594781 47594781 single base substitution C A missense_variant A420S 1258G>T LUSC-US 11 47594781 47594781 single base substitution C A missense_variant A436S 1306G>T LUSC-US 11 47594781 47594781 single base substitution C A missense_variant A445S 1333G>T LUSC-US 11 47595120 47595120 single base substitution C A downstream_gene_variant LUSC-US 11 47595120 47595120 single base substitution C A missense_variant D307Y 919G>T LUSC-US 11 47595120 47595120 single base substitution C A missense_variant D323Y 967G>T LUSC-US 11 47595120 47595120 single base substitution C A missense_variant D332Y 994G>T LUSC-US 11 47595308 47595308 single base substitution C A downstream_gene_variant LUSC-US 11 47595308 47595308 single base substitution C A missense_variant G244V 731G>T LUSC-US 11 47595308 47595308 single base substitution C A missense_variant G260V 779G>T LUSC-US 11 47595308 47595308 single base substitution C A missense_variant G269V 806G>T LUSC-US 11 47597189 47597189 single base substitution C T 3_prime_UTR_variant LUSC-US 11 47597189 47597189 single base substitution C T downstream_gene_variant LUSC-US 11 47597189 47597189 single base substitution C T missense_variant E218K 652G>A LUSC-US 11 47597189 47597189 single base substitution C T missense_variant E234K 700G>A LUSC-US 11 47597189 47597189 single base substitution C T missense_variant E243K 727G>A LUSC-US 11 47597189 47597189 single base substitution C T missense_variant E267K 799G>A MALY-DE 11 47593873 47593873 single base substitution C A 3_prime_UTR_variant MALY-DE 11 47593873 47593873 single base substitution C A downstream_gene_variant MALY-DE 11 47595752 47595752 single base substitution A T downstream_gene_variant MALY-DE 11 47595752 47595752 single base substitution A T intron_variant MALY-DE 11 47598425 47598425 single base substitution C T downstream_gene_variant MALY-DE 11 47598425 47598425 single base substitution C T intron_variant MALY-DE 11 47604603 47604604 deletion of <=200bp TG - upstream_gene_variant MELA-AU 11 47588881 47588882 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 47590504 47590504 single base substitution A G downstream_gene_variant MELA-AU 11 47592810 47592811 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 47594128 47594128 single base substitution C T 3_prime_UTR_variant MELA-AU 11 47594128 47594128 single base substitution C T downstream_gene_variant MELA-AU 11 47594725 47594725 single base substitution C T downstream_gene_variant MELA-AU 11 47594725 47594725 single base substitution C T synonymous_variant G438G 1314G>A MELA-AU 11 47594725 47594725 single base substitution C T synonymous_variant G454G 1362G>A MELA-AU 11 47594725 47594725 single base substitution C T synonymous_variant G463G 1389G>A MELA-AU 11 47596046 47596046 single base substitution C T downstream_gene_variant MELA-AU 11 47596046 47596046 single base substitution C T intron_variant MELA-AU 11 47596204 47596204 single base substitution C T downstream_gene_variant MELA-AU 11 47596204 47596204 single base substitution C T intron_variant MELA-AU 11 47597594 47597594 single base substitution A G downstream_gene_variant MELA-AU 11 47597594 47597594 single base substitution A G intron_variant MELA-AU 11 47598623 47598623 single base substitution A G downstream_gene_variant MELA-AU 11 47598623 47598623 single base substitution A G intron_variant MELA-AU 11 47600386 47600387 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 11 47600386 47600387 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 47600386 47600387 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 47600514 47600514 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 47600514 47600514 single base substitution G A upstream_gene_variant MELA-AU 11 47600515 47600515 single base substitution G A 5_prime_UTR_variant MELA-AU 11 47600515 47600515 single base substitution G A upstream_gene_variant MELA-AU 11 47600530 47600531 multiple base substitution (>=2bp and <=200bp) GC AA 5_prime_UTR_variant MELA-AU 11 47600530 47600531 multiple base substitution (>=2bp and <=200bp) GC AA upstream_gene_variant MELA-AU 11 47600574 47600574 single base substitution C T upstream_gene_variant MELA-AU 11 47600595 47600595 single base substitution C T upstream_gene_variant MELA-AU 11 47600596 47600596 single base substitution C T upstream_gene_variant MELA-AU 11 47600609 47600609 single base substitution C T upstream_gene_variant MELA-AU 11 47601516 47601516 single base substitution C T upstream_gene_variant MELA-AU 11 47601632 47601633 deletion of <=200bp GA - upstream_gene_variant MELA-AU 11 47601663 47601664 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 47601926 47601926 single base substitution C T upstream_gene_variant MELA-AU 11 47601996 47601996 single base substitution C T upstream_gene_variant MELA-AU 11 47603445 47603445 single base substitution A G upstream_gene_variant MELA-AU 11 47603850 47603850 single base substitution C T upstream_gene_variant MELA-AU 11 47603988 47603988 single base substitution C T upstream_gene_variant MELA-AU 11 47605264 47605264 single base substitution C T upstream_gene_variant MELA-AU 11 47605294 47605294 single base substitution C T upstream_gene_variant ORCA-IN 11 47594477 47594477 single base substitution C T 3_prime_UTR_variant ORCA-IN 11 47594477 47594477 single base substitution C T downstream_gene_variant ORCA-IN 11 47594563 47594563 single base substitution C T downstream_gene_variant ORCA-IN 11 47594563 47594563 single base substitution C T synonymous_variant K492K 1476G>A ORCA-IN 11 47594563 47594563 single base substitution C T synonymous_variant K508K 1524G>A ORCA-IN 11 47594563 47594563 single base substitution C T synonymous_variant K517K 1551G>A ORCA-IN 11 47595038 47595038 single base substitution G T downstream_gene_variant ORCA-IN 11 47595038 47595038 single base substitution G T stop_gained S334* 1001C>A ORCA-IN 11 47595038 47595038 single base substitution G T stop_gained S350* 1049C>A ORCA-IN 11 47595038 47595038 single base substitution G T stop_gained S359* 1076C>A ORCA-IN 11 47595107 47595107 single base substitution C A downstream_gene_variant ORCA-IN 11 47595107 47595107 single base substitution C A missense_variant C311F 932G>T ORCA-IN 11 47595107 47595107 single base substitution C A missense_variant C327F 980G>T ORCA-IN 11 47595107 47595107 single base substitution C A missense_variant C336F 1007G>T ORCA-IN 11 47595268 47595268 single base substitution C A downstream_gene_variant ORCA-IN 11 47595268 47595268 single base substitution C A missense_variant L257F 771G>T ORCA-IN 11 47595268 47595268 single base substitution C A missense_variant L273F 819G>T ORCA-IN 11 47595268 47595268 single base substitution C A missense_variant L282F 846G>T OV-AU 11 47590257 47590257 single base substitution T A downstream_gene_variant OV-AU 11 47591250 47591250 single base substitution A G downstream_gene_variant OV-AU 11 47593400 47593400 single base substitution C G downstream_gene_variant OV-AU 11 47598474 47598474 single base substitution C A downstream_gene_variant OV-AU 11 47598474 47598474 single base substitution C A intron_variant OV-US 11 47597234 47597234 single base substitution G T 3_prime_UTR_variant OV-US 11 47597234 47597234 single base substitution G T downstream_gene_variant OV-US 11 47597234 47597234 single base substitution G T missense_variant Q203K 607C>A OV-US 11 47597234 47597234 single base substitution G T missense_variant Q219K 655C>A OV-US 11 47597234 47597234 single base substitution G T missense_variant Q228K 682C>A OV-US 11 47597234 47597234 single base substitution G T missense_variant Q252K 754C>A PACA-AU 11 47588883 47588883 single base substitution G A downstream_gene_variant PACA-AU 11 47599458 47599458 single base substitution G C 3_prime_UTR_variant PACA-AU 11 47599458 47599458 single base substitution G C missense_variant Q32E 94C>G PACA-AU 11 47599458 47599458 single base substitution G C missense_variant Q48E 142C>G PACA-AU 11 47599458 47599458 single base substitution G C missense_variant Q57E 169C>G PACA-AU 11 47599458 47599458 single base substitution G C missense_variant Q81E 241C>G PACA-CA 11 47593970 47593970 single base substitution C T 3_prime_UTR_variant PACA-CA 11 47593970 47593970 single base substitution C T downstream_gene_variant PACA-CA 11 47596085 47596085 single base substitution C T downstream_gene_variant PACA-CA 11 47596085 47596085 single base substitution C T intron_variant PACA-CA 11 47596256 47596256 single base substitution A G downstream_gene_variant PACA-CA 11 47596256 47596256 single base substitution A G intron_variant PACA-CA 11 47599772 47599772 single base substitution C T 5_prime_UTR_variant PACA-CA 11 47599772 47599772 single base substitution C T intron_variant PACA-CA 11 47605078 47605078 single base substitution C A upstream_gene_variant PAEN-AU 11 47588944 47588944 single base substitution T G downstream_gene_variant PBCA-DE 11 47594266 47594266 single base substitution G A 3_prime_UTR_variant PBCA-DE 11 47594266 47594266 single base substitution G A downstream_gene_variant PBCA-DE 11 47595150 47595150 insertion of <=200bp - GCCGTG downstream_gene_variant PBCA-DE 11 47595150 47595150 insertion of <=200bp - GCCGTG inframe_insertion R297PRR PBCA-DE 11 47595150 47595150 insertion of <=200bp - GCCGTG inframe_insertion R313PRR PBCA-DE 11 47595150 47595150 insertion of <=200bp - GCCGTG inframe_insertion R322PRR PBCA-DE 11 47595159 47595159 single base substitution T A downstream_gene_variant PBCA-DE 11 47595159 47595159 single base substitution T A missense_variant I294F 880A>T PBCA-DE 11 47595159 47595159 single base substitution T A missense_variant I310F 928A>T PBCA-DE 11 47595159 47595159 single base substitution T A missense_variant I319F 955A>T PBCA-DE 11 47595161 47595161 single base substitution G A downstream_gene_variant PBCA-DE 11 47595161 47595161 single base substitution G A missense_variant S293F 878C>T PBCA-DE 11 47595161 47595161 single base substitution G A missense_variant S309F 926C>T PBCA-DE 11 47595161 47595161 single base substitution G A missense_variant S318F 953C>T PBCA-DE 11 47601200 47601200 single base substitution T C upstream_gene_variant PBCA-DE 11 47604603 47604604 deletion of <=200bp TG - upstream_gene_variant PRAD-UK 11 47592642 47592642 single base substitution A G downstream_gene_variant PRAD-UK 11 47597326 47597326 deletion of <=200bp T - downstream_gene_variant PRAD-UK 11 47597326 47597326 deletion of <=200bp T - intron_variant PRAD-UK 11 47604603 47604604 deletion of <=200bp TG - upstream_gene_variant READ-US 11 47597196 47597196 single base substitution A C 3_prime_UTR_variant READ-US 11 47597196 47597196 single base substitution A C downstream_gene_variant READ-US 11 47597196 47597196 single base substitution A C missense_variant F215L 645T>G READ-US 11 47597196 47597196 single base substitution A C missense_variant F231L 693T>G READ-US 11 47597196 47597196 single base substitution A C missense_variant F240L 720T>G READ-US 11 47597196 47597196 single base substitution A C missense_variant F264L 792T>G READ-US 11 47602147 47602147 single base substitution C A upstream_gene_variant RECA-EU 11 47601759 47601759 single base substitution C T upstream_gene_variant SKCA-BR 11 47591472 47591472 single base substitution C T downstream_gene_variant SKCA-BR 11 47593683 47593683 single base substitution C T downstream_gene_variant SKCA-BR 11 47600378 47600378 single base substitution A C intron_variant SKCA-BR 11 47600378 47600378 single base substitution A C splice_donor_variant SKCA-BR 11 47600378 47600378 single base substitution A C upstream_gene_variant SKCA-BR 11 47601536 47601544 deletion of <=200bp GACACACAC - upstream_gene_variant SKCA-BR 11 47603681 47603681 single base substitution C T upstream_gene_variant SKCM-US 11 47593296 47593296 single base substitution G A downstream_gene_variant SKCM-US 11 47595161 47595161 single base substitution G A downstream_gene_variant SKCM-US 11 47595161 47595161 single base substitution G A missense_variant S293F 878C>T SKCM-US 11 47595161 47595161 single base substitution G A missense_variant S309F 926C>T SKCM-US 11 47595161 47595161 single base substitution G A missense_variant S318F 953C>T SKCM-US 11 47599133 47599133 single base substitution C T 3_prime_UTR_variant SKCM-US 11 47599133 47599133 single base substitution C T missense_variant R140H 419G>A SKCM-US 11 47599133 47599133 single base substitution C T missense_variant R156H 467G>A SKCM-US 11 47599133 47599133 single base substitution C T missense_variant R165H 494G>A SKCM-US 11 47599133 47599133 single base substitution C T missense_variant R189H 566G>A SKCM-US 11 47599139 47599139 deletion of <=200bp A - 3_prime_UTR_variant SKCM-US 11 47599139 47599139 deletion of <=200bp A - frameshift_variant L138 SKCM-US 11 47599139 47599139 deletion of <=200bp A - frameshift_variant L154 SKCM-US 11 47599139 47599139 deletion of <=200bp A - frameshift_variant L163 SKCM-US 11 47599139 47599139 deletion of <=200bp A - frameshift_variant L187 SKCM-US 11 47599198 47599198 single base substitution A T 3_prime_UTR_variant SKCM-US 11 47599198 47599198 single base substitution A T synonymous_variant I118I 354T>A SKCM-US 11 47599198 47599198 single base substitution A T synonymous_variant I134I 402T>A SKCM-US 11 47599198 47599198 single base substitution A T synonymous_variant I143I 429T>A SKCM-US 11 47599198 47599198 single base substitution A T synonymous_variant I167I 501T>A SKCM-US 11 47602407 47602407 single base substitution A T upstream_gene_variant SKCM-US 11 47602408 47602408 single base substitution G A upstream_gene_variant SKCM-US 11 47603718 47603718 single base substitution G C upstream_gene_variant STAD-US 11 47593071 47593071 single base substitution C T downstream_gene_variant STAD-US 11 47593160 47593160 single base substitution T G downstream_gene_variant STAD-US 11 47594872 47594872 single base substitution A G downstream_gene_variant STAD-US 11 47594872 47594872 single base substitution A G synonymous_variant D389D 1167T>C STAD-US 11 47594872 47594872 single base substitution A G synonymous_variant D405D 1215T>C STAD-US 11 47594872 47594872 single base substitution A G synonymous_variant D414D 1242T>C STAD-US 11 47594883 47594883 insertion of <=200bp - C downstream_gene_variant STAD-US 11 47594883 47594883 insertion of <=200bp - C frameshift_variant E386G? STAD-US 11 47594883 47594883 insertion of <=200bp - C frameshift_variant E402G? STAD-US 11 47594883 47594883 insertion of <=200bp - C frameshift_variant E411G? STAD-US 11 47594886 47594886 single base substitution C A downstream_gene_variant STAD-US 11 47594886 47594886 single base substitution C A missense_variant G385W 1153G>T STAD-US 11 47594886 47594886 single base substitution C A missense_variant G401W 1201G>T STAD-US 11 47594886 47594886 single base substitution C A missense_variant G410W 1228G>T STAD-US 11 47595060 47595060 single base substitution G A downstream_gene_variant STAD-US 11 47595060 47595060 single base substitution G A missense_variant P327S 979C>T STAD-US 11 47595060 47595060 single base substitution G A missense_variant P343S 1027C>T STAD-US 11 47595060 47595060 single base substitution G A missense_variant P352S 1054C>T STAD-US 11 47597166 47597167 deletion of <=200bp CT - downstream_gene_variant STAD-US 11 47597166 47597167 deletion of <=200bp CT - frameshift_variant E225 STAD-US 11 47597166 47597167 deletion of <=200bp CT - frameshift_variant E241 STAD-US 11 47597166 47597167 deletion of <=200bp CT - frameshift_variant E250 STAD-US 11 47597166 47597167 deletion of <=200bp CT - frameshift_variant E274 STAD-US 11 47598987 47598987 single base substitution G A 3_prime_UTR_variant STAD-US 11 47598987 47598987 single base substitution G A downstream_gene_variant STAD-US 11 47598987 47598987 single base substitution G A missense_variant R189C 565C>T STAD-US 11 47598987 47598987 single base substitution G A missense_variant R205C 613C>T STAD-US 11 47598987 47598987 single base substitution G A missense_variant R214C 640C>T STAD-US 11 47598987 47598987 single base substitution G A missense_variant R238C 712C>T STAD-US 11 47599015 47599015 single base substitution A G 3_prime_UTR_variant STAD-US 11 47599015 47599015 single base substitution A G downstream_gene_variant STAD-US 11 47599015 47599015 single base substitution A G synonymous_variant N179N 537T>C STAD-US 11 47599015 47599015 single base substitution A G synonymous_variant N195N 585T>C STAD-US 11 47599015 47599015 single base substitution A G synonymous_variant N204N 612T>C STAD-US 11 47599015 47599015 single base substitution A G synonymous_variant N228N 684T>C STAD-US 11 47599055 47599055 single base substitution G T 3_prime_UTR_variant STAD-US 11 47599055 47599055 single base substitution G T downstream_gene_variant STAD-US 11 47599055 47599055 single base substitution G T missense_variant A166D 497C>A STAD-US 11 47599055 47599055 single base substitution G T missense_variant A182D 545C>A STAD-US 11 47599055 47599055 single base substitution G T missense_variant A191D 572C>A STAD-US 11 47599055 47599055 single base substitution G T missense_variant A215D 644C>A STAD-US 11 47599113 47599113 single base substitution A G 3_prime_UTR_variant STAD-US 11 47599113 47599113 single base substitution A G missense_variant C147R 439T>C STAD-US 11 47599113 47599113 single base substitution A G missense_variant C163R 487T>C STAD-US 11 47599113 47599113 single base substitution A G missense_variant C172R 514T>C STAD-US 11 47599113 47599113 single base substitution A G missense_variant C196R 586T>C STAD-US 11 47599371 47599371 single base substitution G T 3_prime_UTR_variant STAD-US 11 47599371 47599371 single base substitution G T missense_variant L110M 328C>A STAD-US 11 47599371 47599371 single base substitution G T missense_variant L61M 181C>A STAD-US 11 47599371 47599371 single base substitution G T missense_variant L77M 229C>A STAD-US 11 47599371 47599371 single base substitution G T missense_variant L86M 256C>A STAD-US 11 47600835 47600835 single base substitution T C upstream_gene_variant STAD-US 11 47604020 47604020 single base substitution G A upstream_gene_variant UCEC-US 11 47591333 47591333 single base substitution A C downstream_gene_variant UCEC-US 11 47593141 47593141 single base substitution G T downstream_gene_variant UCEC-US 11 47594601 47594601 single base substitution G A downstream_gene_variant UCEC-US 11 47594601 47594601 single base substitution G A missense_variant R480W 1438C>T UCEC-US 11 47594601 47594601 single base substitution G A missense_variant R496W 1486C>T UCEC-US 11 47594601 47594601 single base substitution G A missense_variant R505W 1513C>T UCEC-US 11 47594631 47594631 single base substitution C T downstream_gene_variant UCEC-US 11 47594631 47594631 single base substitution C T missense_variant A470T 1408G>A UCEC-US 11 47594631 47594631 single base substitution C T missense_variant A486T 1456G>A UCEC-US 11 47594631 47594631 single base substitution C T missense_variant A495T 1483G>A UCEC-US 11 47594795 47594795 single base substitution T C downstream_gene_variant UCEC-US 11 47594795 47594795 single base substitution T C missense_variant Y415C 1244A>G UCEC-US 11 47594795 47594795 single base substitution T C missense_variant Y431C 1292A>G UCEC-US 11 47594795 47594795 single base substitution T C missense_variant Y440C 1319A>G UCEC-US 11 47594833 47594833 single base substitution G T downstream_gene_variant UCEC-US 11 47594833 47594833 single base substitution G T stop_gained C402* 1206C>A UCEC-US 11 47594833 47594833 single base substitution G T stop_gained C418* 1254C>A UCEC-US 11 47594833 47594833 single base substitution G T stop_gained C427* 1281C>A UCEC-US 11 47594837 47594837 single base substitution T C downstream_gene_variant UCEC-US 11 47594837 47594837 single base substitution T C missense_variant Q401R 1202A>G UCEC-US 11 47594837 47594837 single base substitution T C missense_variant Q417R 1250A>G UCEC-US 11 47594837 47594837 single base substitution T C missense_variant Q426R 1277A>G UCEC-US 11 47594892 47594892 single base substitution G A downstream_gene_variant UCEC-US 11 47594892 47594892 single base substitution G A synonymous_variant L383L 1147C>T UCEC-US 11 47594892 47594892 single base substitution G A synonymous_variant L399L 1195C>T UCEC-US 11 47594892 47594892 single base substitution G A synonymous_variant L408L 1222C>T UCEC-US 11 47594916 47594916 single base substitution T A downstream_gene_variant UCEC-US 11 47594916 47594916 single base substitution T A missense_variant N375Y 1123A>T UCEC-US 11 47594916 47594916 single base substitution T A missense_variant N391Y 1171A>T UCEC-US 11 47594916 47594916 single base substitution T A missense_variant N400Y 1198A>T UCEC-US 11 47594984 47594984 single base substitution C T downstream_gene_variant UCEC-US 11 47594984 47594984 single base substitution C T missense_variant R352H 1055G>A UCEC-US 11 47594984 47594984 single base substitution C T missense_variant R368H 1103G>A UCEC-US 11 47594984 47594984 single base substitution C T missense_variant R377H 1130G>A UCEC-US 11 47597250 47597250 single base substitution A G downstream_gene_variant UCEC-US 11 47597250 47597250 single base substitution A G splice_region_variant UCEC-US 11 47599403 47599403 single base substitution G A 3_prime_UTR_variant UCEC-US 11 47599403 47599403 single base substitution G A missense_variant S50L 149C>T UCEC-US 11 47599403 47599403 single base substitution G A missense_variant S66L 197C>T UCEC-US 11 47599403 47599403 single base substitution G A missense_variant S75L 224C>T UCEC-US 11 47599403 47599403 single base substitution G A missense_variant S99L 296C>T UCEC-US 11 47600558 47600558 single base substitution C A 5_prime_UTR_variant UCEC-US 11 47600558 47600558 single base substitution C A upstream_gene_variant UCEC-US 11 47603690 47603690 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD4596a COSM161834 c.212G>A p.R71Q Substitution - Missense 11:47577788-47577788 - TCGA-BR-4363-01 COSM4033220 c.439T>C p.C147R Substitution - Missense 11:47577561-47577561 - TCGA-AP-A059-01 COSM927458 c.1147C>T p.L383L Substitution - coding silent 11:47573340-47573340 - 4_RESISTANT COSM1721251 c.413delT p.L138fs*13 Deletion - Frameshift 11:47577587-47577587 - TCGA-F4-6570-01 COSM1354098 c.1265G>A p.R422H Substitution - Missense 11:47573222-47573222 - TCGA-22-5472-01 COSM687957 c.1258G>T p.A420S Substitution - Missense 11:47573229-47573229 - T2940 COSM1354100 c.1156delG p.E386fs*27 Deletion - Frameshift 11:47573331-47573331 - TCGA-C8-A12M-01 COSM429069 c.1223A>G p.D408G Substitution - Missense 11:47573264-47573264 - CCK81 COSM1981770 c.633C>A p.A211A Substitution - coding silent 11:47575656-47575656 - TCGA-AG-3906-01 COSM5070022 c.790T>C p.S264P Substitution - Missense 11:47573697-47573697 - OSCC-GB_00990111 COSM4885719 c.932G>T p.C311F Substitution - Missense 11:47573555-47573555 - TCGA-BG-A0MC-01 COSM927459 c.1123A>T p.N375Y Substitution - Missense 11:47573364-47573364 - MD-324 COSM302454 c.1384T>G p.S462A Substitution - Missense 11:47573103-47573103 - PD6016a2 COSM5788486 c.445C>T p.Q149* Substitution - Nonsense 11:47577555-47577555 - TCGA-B8-5553-01 COSM3359213 c.326A>C p.K109T Substitution - Missense 11:47577674-47577674 - B25 COSM1746275 c.1464C>T p.A488A Substitution - coding silent 11:47573023-47573023 - MDS-12 COSM210983 c.1156_1157insC p.E386fs*4 Insertion - Frameshift 11:47573330-47573331 - TCGA-AG-A023-01 COSM5073865 c.1013A>C p.K338T Substitution - Missense 11:47573474-47573474 - ACINAR01 COSM1734691 c.179G>A p.R60Q Substitution - Missense 11:47577821-47577821 - TCGA-D9-A6EC-06 COSM4405213 c.354T>A p.I118I Substitution - coding silent 11:47577646-47577646 - Pat_45_B COSM1354100 c.1156delG p.E386fs*27 Deletion - Frameshift 11:47573331-47573331 - TCGA-G4-6628-01 COSM1354097 c.1463C>T p.A488V Substitution - Missense 11:47573024-47573024 - TCGA-AC-A23H-01 COSM3809344 c.1193G>A p.R398Q Substitution - Missense 11:47573294-47573294 - NB-1972 COSM1285646 c.880A>T p.I294F Substitution - Missense 11:47573607-47573607 - HCC036T COSM5818006 c.543G>T p.E181D Substitution - Missense 11:47577457-47577457 - CSCC-56-T COSM4460677 c.1128C>A p.L376L Substitution - coding silent 11:47573359-47573359 - SC_9047 COSM1981772 c.466C>A p.R156R Substitution - coding silent 11:47577534-47577534 - LUAD-RT-S01769 COSM380832 c.609G>T p.Q203H Substitution - Missense 11:47575680-47575680 - TCGA-AP-A059-01 COSM927453 c.1438C>T p.R480W Substitution - Missense 11:47573049-47573049 - HN_62432 COSM128273 c.1158G>A p.E386E Substitution - coding silent 11:47573329-47573329 - 19 COSM5747244 c.1481A>G p.D494G Substitution - Missense 11:47573006-47573006 - TCGA-BH-A18G-01 COSM1354100 c.1156delG p.E386fs*27 Deletion - Frameshift 11:47573331-47573331 - ESCC_11 COSM5624192 c.947G>A p.R316Q Substitution - Missense 11:47573540-47573540 - cSCCP4 COSM138811 c.659G>A p.R220K Substitution - Missense 11:47575630-47575630 - TCGA-C5-A7CJ-01 COSM4821334 c.856G>C p.D286H Substitution - Missense 11:47573631-47573631 - Br27P COSM40211 c.697-1G>A p.? Unknown 11:47573791-47573791 - TCGA-D8-A1Y1-01 COSM1475469 c.492G>T p.T164T Substitution - coding silent 11:47577508-47577508 - 1319-01-03TD COSM5416961 c.582C>A p.I194I Substitution - coding silent 11:47577418-47577418 - B65-Tumor COSM254754 c.1404G>C p.K468N Substitution - Missense 11:47573083-47573083 - HCC104T COSM5808277 c.391T>C p.F131L Substitution - Missense 11:47577609-47577609 - 8016470 COSM3383511 c.94C>G p.Q32E Substitution - Missense 11:47577906-47577906 - ESO-075 COSM1255208 c.600G>A p.P200P Substitution - coding silent 11:47575689-47575689 - TCGA-BR-8368-01 COSM4033214 c.565C>T p.R189C Substitution - Missense 11:47577435-47577435 - TCGA-BR-7716-01 COSM4033210 c.1153G>T p.G385W Substitution - Missense 11:47573334-47573334 - TCGA-B5-A11E-01 COSM927461 c.591T>C p.D197D Substitution - coding silent 11:47575698-47575698 - MDS-12 COSM211463 c.1156_1157insG p.E386fs*4 Insertion - Frameshift 11:47573330-47573331 - sysucc-274T COSM5475514 c.952C>T p.R318W Substitution - Missense 11:47573535-47573535 - TCGA-66-2773-01 COSM687956 c.919G>T p.D307Y Substitution - Missense 11:47573568-47573568 - PT41 COSM5924537 c.655G>A p.E219K Substitution - Missense 11:47575634-47575634 - TCGA-CK-5913-01 COSM927453 c.1438C>T p.R480W Substitution - Missense 11:47573049-47573049 - TCGA-CD-5803-01 COSM4033212 c.979C>T p.P327S Substitution - Missense 11:47573508-47573508 - TCGA-BR-4257-01 COSM4033216 c.537T>C p.N179N Substitution - coding silent 11:47577463-47577463 - 2P3 COSM3733711 c.235A>T p.K79* Substitution - Nonsense 11:47577765-47577765 - OSCC-GB_01230111 COSM5955355 c.1001C>A p.S334* Substitution - Nonsense 11:47573486-47573486 - TCGA-66-2795-01 COSM687955 c.731G>T p.G244V Substitution - Missense 11:47573756-47573756 - TCGA-BR-8361-01 COSM4033208 c.1167T>C p.D389D Substitution - coding silent 11:47573320-47573320 - OSCC-GB_01330111 COSM5955453 c.1476G>A p.K492K Substitution - coding silent 11:47573011-47573011 - pfg127T COSM4765746 c.1157_1158insG p.E387fs*3 Insertion - Frameshift 11:47573329-47573330 - TCGA-B0-5709-01 COSM466855 c.429A>G p.Q143Q Substitution - coding silent 11:47577571-47577571 - B25-Tumor COSM1746275 c.1464C>T p.A488A Substitution - coding silent 11:47573023-47573023 - TCGA-A6-5665-01 COSM1354101 c.1131C>T p.N377N Substitution - coding silent 11:47573356-47573356 - TCGA-37-4133-01 COSM687954 c.652G>A p.E218K Substitution - Missense 11:47575637-47575637 - B52 COSM1746276 c.730G>T p.G244W Substitution - Missense 11:47573757-47573757 - MD-045 COSM302455 c.888_889insGGG p.R296_R297insG Insertion - In frame 11:47573598-47573599 - TCGA-06-6695-01 COSM3397723 c.1439G>C p.R480P Substitution - Missense 11:47573048-47573048 - TCGA-EB-A5SG-06 COSM290578 c.419G>A p.R140H Substitution - Missense 11:47577581-47577581 - B10-Tumor COSM254753 c.124G>T p.E42* Substitution - Nonsense 11:47577876-47577876 - YUKLAB COSM1703878 c.947G>T p.R316L Substitution - Missense 11:47573540-47573540 - T3658 COSM1354100 c.1156delG p.E386fs*27 Deletion - Frameshift 11:47573331-47573331 - 1_RESISTANT COSM1721251 c.413delT p.L138fs*13 Deletion - Frameshift 11:47577587-47577587 - BD57T COSM5510505 c.1242C>A p.P414P Substitution - coding silent 11:47573245-47573245 - ICGC_MB111 COSM3447847 c.878C>T p.S293F Substitution - Missense 11:47573609-47573609 - B74 COSM254755 c.868G>A p.V290M Substitution - Missense 11:47573619-47573619 - B10 COSM254753 c.124G>T p.E42* Substitution - Nonsense 11:47577876-47577876 - HCC76T COSM1604600 c.1315_1316insG p.D439fs*20 Insertion - Frameshift 11:47573171-47573172 - TCGA-13-1488-01 COSM75065 c.607C>A p.Q203K Substitution - Missense 11:47575682-47575682 - B74-Tumor COSM254755 c.868G>A p.V290M Substitution - Missense 11:47573619-47573619 - TCGA-AP-A059-01 COSM927460 c.1055G>A p.R352H Substitution - Missense 11:47573432-47573432 - TCGA-AX-A0J1-01 COSM927457 c.1202A>G p.Q401R Substitution - Missense 11:47573285-47573285 - L06 COSM5368771 c.1126C>T p.L376F Substitution - Missense 11:47573361-47573361 - TCGA-A7-A0CG-01 COSM3809348 c.154G>A p.E52K Substitution - Missense 11:47577846-47577846 - Pat_24_A COSM5838670 c.886C>T p.R296W Substitution - Missense 11:47573601-47573601 - B65 COSM254754 c.1404G>C p.K468N Substitution - Missense 11:47573083-47573083 - B74 COSM254755 c.868G>A p.V290M Substitution - Missense 11:47573619-47573619 - CSCC-31-T COSM4515822 c.1293_1294GG>AT p.V432L Substitution - Missense 11:47573193-47573194 - TCGA-RA-A741-01 COSM4818775 c.11C>A p.P4Q Substitution - Missense 11:47577989-47577989 - B10-Tumor COSM253750 c.234G>A p.L78L Substitution - coding silent 11:47577766-47577766 - TCGA-AP-A0LM-01 COSM927455 c.1244A>G p.Y415C Substitution - Missense 11:47573243-47573243 - B10 COSM254753 c.124G>T p.E42* Substitution - Nonsense 11:47577876-47577876 - TCGA-BS-A0UV-01 COSM927462 c.149C>T p.S50L Substitution - Missense 11:47577851-47577851 - TCGA-57-1584-01 COSM116987 c.1372G>C p.E458Q Substitution - Missense 11:47573115-47573115 - EWS502 COSM4574404 c.981C>T p.P327P Substitution - coding silent 11:47573506-47573506 - B65 COSM254754 c.1404G>C p.K468N Substitution - Missense 11:47573083-47573083 - TCGA-CD-A4MG-01 COSM4033218 c.497C>A p.A166D Substitution - Missense 11:47577503-47577503 - TCGA-AZ-6598-01 COSM1354102 c.902G>A p.C301Y Substitution - Missense 11:47573585-47573585 - S01516 COSM5668973 c.912C>T p.A304A Substitution - coding silent 11:47573575-47573575 - OSCC-GB_00570111 COSM4889912 c.771G>T p.L257F Substitution - Missense 11:47573716-47573716 - B10 COSM253750 c.234G>A p.L78L Substitution - coding silent 11:47577766-47577766 - TCGA-A2-A25E-01 COSM1475470 c.108_109insT p.L37fs*10 Insertion - Frameshift 11:47577891-47577892 - Pat_70_A COSM1721251 c.413delT p.L138fs*13 Deletion - Frameshift 11:47577587-47577587 - TCGA-AG-3726-01 COSM5067001 c.44A>C p.Y15S Substitution - Missense 11:47577956-47577956 - L06 COSM5368769 c.1133G>T p.G378V Substitution - Missense 11:47573354-47573354 - TCGA-06-0744 COSM2151650 c.959_960delAG p.Q320fs*35 Deletion - Frameshift 11:47573527-47573528 - ESCC_170 COSM5649119 c.639C>G p.I213M Substitution - Missense 11:47575650-47575650 - TCGA-E9-A3Q9-01 COSM3809346 c.626T>C p.I209T Substitution - Missense 11:47575663-47575663 - TCGA-AN-A046-01 COSM3809350 c.99C>T p.G33G Substitution - coding silent 11:47577901-47577901 - TCGA-AP-A051-01 COSM927456 c.1206C>A p.C402* Substitution - Nonsense 11:47573281-47573281 - TCGA-HU-A4H8-01 COSM4033222 c.181C>A p.L61M Substitution - Missense 11:47577819-47577819 - 2341098 COSM4771587 c.185T>G p.V62G Substitution - Missense 11:47577815-47577815 - ICGC_MB111 COSM1285646 c.880A>T p.I294F Substitution - Missense 11:47573607-47573607 - PD4937a COSM161835 c.1197C>T p.L399L Substitution - coding silent 11:47573290-47573290 - TCGA-F5-6813-01 COSM5080452 c.590-7C>T p.? Unknown 11:47575706-47575706 - WSU-HN6 COSM4602118 c.951C>G p.D317E Substitution - Missense 11:47573536-47573536 - 76 COSM5015001 c.767C>A p.S256Y Substitution - Missense 11:47573720-47573720 - TCGA-D3-A5GR-06 COSM3447847 c.878C>T p.S293F Substitution - Missense 11:47573609-47573609 - TCGA-AZ-6598-01 COSM1354099 c.1218_1219delGA p.E406fs*23 Deletion - Frameshift 11:47573268-47573269 - 169 COSM1354100 c.1156delG p.E386fs*27 Deletion - Frameshift 11:47573331-47573331 - TCGA-D1-A16X-01 COSM927454 c.1408G>A p.A470T Substitution - Missense 11:47573079-47573079 - HCC065T COSM5813031 c.1050T>G p.Y350* Substitution - Nonsense 11:47573437-47573437 - B10 COSM253750 c.234G>A p.L78L Substitution - coding silent 11:47577766-47577766 - TCGA-AG-A02G-01 COSM290578 c.419G>A p.R140H Substitution - Missense 11:47577581-47577581 - TCGA-F5-6814-01 COSM3415896 c.645T>G p.F215L Substitution - Missense 11:47575644-47575644 - I2L-P19Ta-Tumor-Organoid COSM5360572 c.1007G>A p.G336D Substitution - Missense 11:47573480-47573480 - PT52 COSM5940141 c.184G>C p.V62L Substitution - Missense 11:47577816-47577816 - SC_9082 COSM927460 c.1055G>A p.R352H Substitution - Missense 11:47573432-47573432 - sysucc-311T COSM927460 c.1055G>A p.R352H Substitution - Missense 11:47573432-47573432 - I2L-P19Ta-Tumor-Biopsy COSM5360572 c.1007G>A p.G336D Substitution - Missense 11:47573480-47573480 - ESCC_57 COSM5632277 c.1273G>C p.A425P Substitution - Missense 11:47573214-47573214 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.718479;Hs.718483 11p11.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L482R c.1445T>G 11 47594642 CM - A Frameshift p.K52Nfs*11 c.155_156insT 11 47599444 BRCA A - Frameshift p.L154Wfs*13 c.461delT 11 47599139 CM A - Frameshift p.L154Wfs*13 c.461delT 11 47599139 THCA A G Missense p.C163R c.487T>C 11 47599113 STAD A G Synonymous p.N195N c.585T>C 11 47599015 STAD ATGA - Frameshift p.I210Tfs*15 c.629_632delTCAT 11 47598968 HNSC C A Missense p.A436S c.1306G>T 11 47594781 LUSC C A Missense p.D323Y c.967G>T 11 47595120 LUSC C A Missense p.G260V c.779G>T 11 47595308 LUSC C A Nonsense p.E58* c.172G>T 11 47599428 CLL C A Synonymous p.T180T c.540G>T 11 47599060 BRCA C - Frameshift p.A383Lfs*17 c.1147delG 11 47594940 HNSC C G Missense p.E474Q c.1420G>C 11 47594667 OV C G Missense p.K484N c.1452G>C 11 47594635 CLL C G Missense p.R496P c.1487G>C 11 47594600 GBM C T Missense p.E234K c.700G>A 11 47597189 LUSC C T Missense p.R156H c.467G>A 11 47599133 COREAD C T Missense p.R156H c.467G>A 11 47599133 LUAD C T Missense p.R87Q c.260G>A 11 47599340 BRCA C T Missense p.S21L c.62C>T 11 47599340 BRCA C T Missense p.V306M c.916G>A 11 47595171 CLL C T Synonymous p.E402E c.1206G>A 11 47594881 HNSC C T Synonymous p.G260G c.780G>A 11 47595307 CM G A Missense p.P343S c.1027C>T 11 47595060 STAD G A SpliceAcceptorSNV . c.745-1G>A 11 47595343 GBM G A Synonymous p.L415L c.1245C>T 11 47594842 BRCA G C Missense p.S280C c.839C>G 11 47595248 STAD G T Missense p.Q219K c.655C>A 11 47597234 OV T A Missense p.I310F c.928A>T 11 47595159 NB T A Missense p.N391Y c.1171A>T 11 47594916 UCEC T C Missense p.D424G c.1271A>G 11 47594816 BRCA T C Missense p.E376G c.1127A>G 11 47594960 CM T C Synonymous p.Q159Q c.477A>G 11 47599123 RCCC T G 3-UTRSNV . c.1602+54A>C 11 47594431 HC T G Missense p.K125T c.374A>C 11 47599226 RCCC - T IntronicInsertion . c.638-161dupA 11 47597412 CM