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 5717741 5717741 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr11:5717741G>T c.279G>T c.(277-279)aaG>aaT p.K93N BLCA 11 5717804 5717804 + Silent SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr11:5717804C>A c.342C>A c.(340-342)gtC>gtA p.V114V BLCA 11 5730645 5730645 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr11:5730645G>C c.1264G>C c.(1264-1266)Gag>Cag p.E422Q BLCA 11 5730819 5730819 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr11:5730819C>T c.1438C>T c.(1438-1440)Ccg>Tcg p.P480S BRCA 11 5718549 5718549 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr11:5718549C>T c.495C>T c.(493-495)atC>atT p.I165I BRCA 11 5730436 5730436 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr11:5730436C>T c.1055C>T c.(1054-1056)tCg>tTg p.S352L CESC 11 5730382 5730382 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr11:5730382C>G c.1001C>G c.(1000-1002)tCa>tGa p.S334* COAD 11 5717641 5717641 + Missense_Mutation SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr11:5717641A>G c.179A>G c.(178-180)cAg>cGg p.Q60R COAD 11 5717685 5717685 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr11:5717685G>A c.223G>A c.(223-225)Gcc>Acc p.A75T COAD 11 5717765 5717765 + Frame_Shift_Del DEL A A - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr11:5717765delA c.303delA c.(301-303)ggafs p.G101fs COAD 11 5718565 5718565 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr11:5718565G>A c.511G>A c.(511-513)Gcc>Acc p.A171T COAD 11 5719556 5719556 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr11:5719556G>A c.531G>A c.(529-531)caG>caA p.Q177Q COAD 11 5727830 5727830 + Missense_Mutation SNP A A T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr11:5727830A>T c.757A>T c.(757-759)Att>Ttt p.I253F COAD 11 5730394 5730394 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:5730394A>C c.1013A>C c.(1012-1014)gAt>gCt p.D338A COAD 11 5730620 5730620 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:5730620G>T c.1239G>T c.(1237-1239)caG>caT p.Q413H COAD 11 5730620 5730620 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:5730620G>T c.1239G>T c.(1237-1239)caG>caT p.Q413H COAD 11 5730798 5730798 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:5730798C>T c.1417C>T c.(1417-1419)Cgc>Tgc p.R473C COADREAD 11 5717641 5717641 + Missense_Mutation SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr11:5717641A>G c.179A>G c.(178-180)cAg>cGg p.Q60R COADREAD 11 5717685 5717685 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr11:5717685G>A c.223G>A c.(223-225)Gcc>Acc p.A75T COADREAD 11 5717765 5717765 + Frame_Shift_Del DEL A A - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr11:5717765delA c.303delA c.(301-303)ggafs p.G101fs COADREAD 11 5717856 5717856 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:5717856C>T c.394C>T c.(394-396)Cgc>Tgc p.R132C COADREAD 11 5718565 5718565 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr11:5718565G>A c.511G>A c.(511-513)Gcc>Acc p.A171T COADREAD 11 5719556 5719556 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr11:5719556G>A c.531G>A c.(529-531)caG>caA p.Q177Q COADREAD 11 5727830 5727830 + Missense_Mutation SNP A A T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr11:5727830A>T c.757A>T c.(757-759)Att>Ttt p.I253F COADREAD 11 5730394 5730394 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:5730394A>C c.1013A>C c.(1012-1014)gAt>gCt p.D338A COADREAD 11 5730620 5730620 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:5730620G>T c.1239G>T c.(1237-1239)caG>caT p.Q413H COADREAD 11 5730620 5730620 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:5730620G>T c.1239G>T c.(1237-1239)caG>caT p.Q413H COADREAD 11 5730798 5730798 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:5730798C>T c.1417C>T c.(1417-1419)Cgc>Tgc p.R473C DLBC 11 5719649 5719649 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr11:5719649T>C c.624T>C c.(622-624)ggT>ggC p.G208G DLBC 11 5730343 5730343 + Missense_Mutation SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr11:5730343G>A c.962G>A c.(961-963)aGa>aAa p.R321K DLBC 11 5730437 5730437 + Silent SNP G G A TCGA-GS-A9U4-01A-11D-A38X-10 TCGA-GS-A9U4-10A-01D-A38X-10 g.chr11:5730437G>A c.1056G>A c.(1054-1056)tcG>tcA p.S352S ESCA 11 5717484 5717484 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr11:5717484G>A c.22G>A c.(22-24)Gac>Aac p.D8N ESCA 11 5717813 5717813 + Nonsense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chr11:5717813G>A c.351G>A c.(349-351)tgG>tgA p.W117* ESCA 11 5719674 5719674 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr11:5719674G>A c.649G>A c.(649-651)Gca>Aca p.A217T GBM 11 5730417 5730417 + Missense_Mutation SNP G G A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chr11:5730417G>A c.1036G>A c.(1036-1038)Ggc>Agc p.G346S GBMLGG 11 5719631 5719631 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:5719631G>A c.606G>A c.(604-606)ctG>ctA p.L202L GBMLGG 11 5719736 5719736 + Silent SNP C C G TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 g.chr11:5719736C>G c.711C>G c.(709-711)ctC>ctG p.L237L GBMLGG 11 5729464 5729464 + Nonsense_Mutation SNP C C T TCGA-WY-A85E-01A-11D-A36O-08 TCGA-WY-A85E-10A-01D-A367-08 g.chr11:5729464C>T c.835C>T c.(835-837)Cga>Tga p.R279* GBMLGG 11 5730417 5730417 + Missense_Mutation SNP G G A TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chr11:5730417G>A c.1036G>A c.(1036-1038)Ggc>Agc p.G346S GBMLGG 11 5730667 5730667 + Missense_Mutation SNP C C T TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chr11:5730667C>T c.1286C>T c.(1285-1287)cCc>cTc p.P429L HNSC 11 5717502 5717502 + Missense_Mutation SNP A A T TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr11:5717502A>T c.40A>T c.(40-42)Acc>Tcc p.T14S HNSC 11 5717794 5717794 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr11:5717794A>G c.332A>G c.(331-333)gAt>gGt p.D111G HNSC 11 5730360 5730360 + Missense_Mutation SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 g.chr11:5730360C>T c.979C>T c.(979-981)Cgc>Tgc p.R327C HNSC 11 5730527 5730527 + Silent SNP G G A TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr11:5730527G>A c.1146G>A c.(1144-1146)aaG>aaA p.K382K HNSC 11 5730671 5730671 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chr11:5730671G>A c.1290G>A c.(1288-1290)aaG>aaA p.K430K HNSC 11 5730848 5730848 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr11:5730848C>T c.1467C>T c.(1465-1467)gtC>gtT p.V489V KICH 11 5717467 5717467 + Missense_Mutation SNP A A G TCGA-KM-8639-01A-11D-2397-10 TCGA-KM-8639-10A-01D-2397-10 g.chr11:5717467A>G c.5A>G c.(4-6)gAt>gGt p.D2G KIPAN 11 5717467 5717467 + Missense_Mutation SNP A A G TCGA-KM-8639-01A-11D-2397-10 TCGA-KM-8639-10A-01D-2397-10 g.chr11:5717467A>G c.5A>G c.(4-6)gAt>gGt p.D2G KIPAN 11 5717510 5717510 + Silent SNP C C T TCGA-EV-5902-01A-11D-1589-08 TCGA-EV-5902-10A-01D-1589-08 g.chr11:5717510C>T c.48C>T c.(46-48)ccC>ccT p.P16P KIPAN 11 5717667 5717667 + Nonsense_Mutation SNP C C T TCGA-B0-4837-01A-01D-1373-10 TCGA-B0-4837-11A-01D-1373-10 g.chr11:5717667C>T c.205C>T c.(205-207)Cga>Tga p.R69* KIPAN 11 5727831 5727831 + Missense_Mutation SNP T T C TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr11:5727831T>C c.758T>C c.(757-759)aTt>aCt p.I253T KIPAN 11 5730402 5730402 + Missense_Mutation SNP G G A TCGA-5P-A9KH-01A-11D-A42J-10 TCGA-5P-A9KH-10A-01D-A42M-10 g.chr11:5730402G>A c.1021G>A c.(1021-1023)Gct>Act p.A341T KIRC 11 5717667 5717667 + Nonsense_Mutation SNP C C T TCGA-B0-4837-01A-01D-1373-10 TCGA-B0-4837-11A-01D-1373-10 g.chr11:5717667C>T c.205C>T c.(205-207)Cga>Tga p.R69* KIRC 11 5727831 5727831 + Missense_Mutation SNP T T C TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr11:5727831T>C c.758T>C c.(757-759)aTt>aCt p.I253T KIRP 11 5717510 5717510 + Silent SNP C C T TCGA-EV-5902-01A-11D-1589-08 TCGA-EV-5902-10A-01D-1589-08 g.chr11:5717510C>T c.48C>T c.(46-48)ccC>ccT p.P16P KIRP 11 5730402 5730402 + Missense_Mutation SNP G G A TCGA-5P-A9KH-01A-11D-A42J-10 TCGA-5P-A9KH-10A-01D-A42M-10 g.chr11:5730402G>A c.1021G>A c.(1021-1023)Gct>Act p.A341T LGG 11 5719631 5719631 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:5719631G>A c.606G>A c.(604-606)ctG>ctA p.L202L LGG 11 5719736 5719736 + Silent SNP C C G TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 g.chr11:5719736C>G c.711C>G c.(709-711)ctC>ctG p.L237L LGG 11 5729464 5729464 + Nonsense_Mutation SNP C C T TCGA-WY-A85E-01A-11D-A36O-08 TCGA-WY-A85E-10A-01D-A367-08 g.chr11:5729464C>T c.835C>T c.(835-837)Cga>Tga p.R279* LGG 11 5730667 5730667 + Missense_Mutation SNP C C T TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chr11:5730667C>T c.1286C>T c.(1285-1287)cCc>cTc p.P429L LUAD 11 5717615 5717615 + Missense_Mutation SNP A A C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 g.chr11:5717615A>C c.153A>C c.(151-153)agA>agC p.R51S LUAD 11 5717680 5717680 + Missense_Mutation SNP A A G TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr11:5717680A>G c.218A>G c.(217-219)cAt>cGt p.H73R LUAD 11 5719619 5719619 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 g.chr11:5719619G>T c.594G>T c.(592-594)gaG>gaT p.E198D LUAD 11 5727829 5727829 + Silent SNP G G T TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr11:5727829G>T c.756G>T c.(754-756)gtG>gtT p.V252V LUAD 11 5729473 5729473 + Missense_Mutation SNP G G A TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr11:5729473G>A c.844G>A c.(844-846)Gat>Aat p.D282N LUAD 11 5729478 5729478 + Silent SNP G G T TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr11:5729478G>T c.849G>T c.(847-849)ctG>ctT p.L283L LUAD 11 5730336 5730336 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 g.chr11:5730336G>T c.955G>T c.(955-957)Gat>Tat p.D319Y LUAD 11 5730492 5730492 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 g.chr11:5730492G>T c.1111G>T c.(1111-1113)Gta>Tta p.V371L LUAD 11 5730535 5730535 + Missense_Mutation SNP G G T TCGA-44-A4SU-01A-11D-A24P-08 TCGA-44-A4SU-10A-01D-A24P-08 g.chr11:5730535G>T c.1154G>T c.(1153-1155)gGg>gTg p.G385V LUAD 11 5730700 5730700 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 g.chr11:5730700C>T c.1319C>T c.(1318-1320)cCc>cTc p.P440L LUAD 11 5730866 5730866 + Silent SNP A A G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 g.chr11:5730866A>G c.1485A>G c.(1483-1485)ccA>ccG p.P495P LUSC 11 5719584 5719584 + Missense_Mutation SNP T T A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr11:5719584T>A c.559T>A c.(559-561)Ttc>Atc p.F187I LUSC 11 5719761 5719761 + Missense_Mutation SNP G G C TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 g.chr11:5719761G>C c.736G>C c.(736-738)Gta>Cta p.V246L LUSC 11 5730645 5730645 + Missense_Mutation SNP G G C TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 g.chr11:5730645G>C c.1264G>C c.(1264-1266)Gag>Cag p.E422Q OV 11 5717689 5717725 + Frame_Shift_Del DEL ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC - TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 g.chr11:5717689_5717725delACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC c.227_263delACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC c.(226-264)aacatagttgagagagtcaaagaggtcaagatgagcccafs p.NIVERVKEVKMSP76fs PAAD 11 5730696 5730696 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:5730696C>T c.1315C>T c.(1315-1317)Cct>Tct p.P439S PRAD 11 5718478 5718478 + Splice_Site SNP G G A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 g.chr11:5718478G>A c.424G>A c.(424-426)Gaa>Aaa p.E142K PRAD 11 5730757 5730757 + Missense_Mutation SNP T T G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 g.chr11:5730757T>G c.1376T>G c.(1375-1377)gTc>gGc p.V459G READ 11 5717856 5717856 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:5717856C>T c.394C>T c.(394-396)Cgc>Tgc p.R132C SARC 11 5730822 5730822 + Missense_Mutation SNP T T C TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 g.chr11:5730822T>C c.1441T>C c.(1441-1443)Tat>Cat p.Y481H SKCM 11 5717766 5717766 + Missense_Mutation SNP A A C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 g.chr11:5717766A>C c.304A>C c.(304-306)Aaa>Caa p.K102Q SKCM 11 5719637 5719637 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr11:5719637G>A c.612G>A c.(610-612)aaG>aaA p.K204K SKCM 11 5719671 5719671 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr11:5719671C>T c.646C>T c.(646-648)Ctg>Ttg p.L216L SKCM 11 5719768 5719768 + Missense_Mutation SNP T T C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr11:5719768T>C c.743T>C c.(742-744)aTg>aCg p.M248T SKCM 11 5729476 5729476 + Silent SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr11:5729476C>T c.847C>T c.(847-849)Ctg>Ttg p.L283L SKCM 11 5730298 5730298 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr11:5730298A>G c.917A>G c.(916-918)aAt>aGt p.N306S SKCM 11 5730316 5730316 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr11:5730316C>T c.935C>T c.(934-936)tCg>tTg p.S312L SKCM 11 5730400 5730400 + Missense_Mutation SNP C C T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr11:5730400C>T c.1019C>T c.(1018-1020)tCt>tTt p.S340F SKCM 11 5730400 5730400 + Missense_Mutation SNP C C T TCGA-EE-A2A0-06A-11D-A196-08 TCGA-EE-A2A0-10A-01D-A198-08 g.chr11:5730400C>T c.1019C>T c.(1018-1020)tCt>tTt p.S340F SKCM 11 5730469 5730469 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr11:5730469G>A c.1088G>A c.(1087-1089)gGa>gAa p.G363E SKCM 11 5730793 5730793 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr11:5730793G>A c.1412G>A c.(1411-1413)gGa>gAa p.G471E SKCM 11 5730807 5730807 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:5730807C>T c.1426C>T c.(1426-1428)Cga>Tga p.R476* SKCM 11 5730827 5730827 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:5730827C>T c.1446C>T c.(1444-1446)ttC>ttT p.F482F SKCM 11 5730836 5730836 + Nonsense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr11:5730836G>A c.1455G>A c.(1453-1455)tgG>tgA p.W485* SKCM 11 5730874 5730874 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr11:5730874C>T c.1493C>T c.(1492-1494)tCc>tTc p.S498F SKCM 11 5730875 5730875 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr11:5730875C>T c.1494C>T c.(1492-1494)tcC>tcT p.S498S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 11 5706911 5706911 single base substitution G T upstream_gene_variant BRCA-EU 11 5707730 5707730 single base substitution T A upstream_gene_variant BRCA-EU 11 5709184 5709184 single base substitution C G upstream_gene_variant BRCA-EU 11 5711977 5711977 single base substitution G C intron_variant BRCA-EU 11 5711977 5711977 single base substitution G C upstream_gene_variant BRCA-EU 11 5715252 5715252 single base substitution C T intron_variant BRCA-EU 11 5715252 5715252 single base substitution C T upstream_gene_variant BRCA-EU 11 5715389 5715389 single base substitution A G intron_variant BRCA-EU 11 5715389 5715389 single base substitution A G upstream_gene_variant BRCA-EU 11 5715856 5715856 single base substitution A T intron_variant BRCA-EU 11 5715856 5715856 single base substitution A T upstream_gene_variant BRCA-EU 11 5716400 5716400 single base substitution G T intron_variant BRCA-EU 11 5716400 5716400 single base substitution G T upstream_gene_variant BRCA-EU 11 5717816 5717816 single base substitution T C exon_variant BRCA-EU 11 5717816 5717816 single base substitution T C synonymous_variant V118V 354T>C BRCA-EU 11 5718008 5718008 single base substitution C T exon_variant BRCA-EU 11 5718008 5718008 single base substitution C T intron_variant BRCA-EU 11 5718851 5718851 single base substitution G A downstream_gene_variant BRCA-EU 11 5718851 5718851 single base substitution G A exon_variant BRCA-EU 11 5718851 5718851 single base substitution G A intron_variant BRCA-EU 11 5718968 5718968 single base substitution C G downstream_gene_variant BRCA-EU 11 5718968 5718968 single base substitution C G exon_variant BRCA-EU 11 5718968 5718968 single base substitution C G intron_variant BRCA-EU 11 5720110 5720110 single base substitution C A downstream_gene_variant BRCA-EU 11 5720110 5720110 single base substitution C A intron_variant BRCA-EU 11 5720114 5720114 single base substitution C T downstream_gene_variant BRCA-EU 11 5720114 5720114 single base substitution C T intron_variant BRCA-EU 11 5720609 5720609 single base substitution C T downstream_gene_variant BRCA-EU 11 5720609 5720609 single base substitution C T intron_variant BRCA-EU 11 5721080 5721080 single base substitution C G downstream_gene_variant BRCA-EU 11 5721080 5721080 single base substitution C G intron_variant BRCA-EU 11 5721510 5721510 insertion of <=200bp - T downstream_gene_variant BRCA-EU 11 5721510 5721510 insertion of <=200bp - T intron_variant BRCA-EU 11 5721747 5721747 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 5721747 5721747 deletion of <=200bp T - intron_variant BRCA-EU 11 5721970 5721970 single base substitution T G downstream_gene_variant BRCA-EU 11 5721970 5721970 single base substitution T G intron_variant BRCA-EU 11 5722625 5722625 single base substitution A G downstream_gene_variant BRCA-EU 11 5722625 5722625 single base substitution A G intron_variant BRCA-EU 11 5724613 5724613 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 5724613 5724613 deletion of <=200bp T - intron_variant BRCA-EU 11 5724613 5724613 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 5724816 5724816 single base substitution C A intron_variant BRCA-EU 11 5724816 5724816 single base substitution C A upstream_gene_variant BRCA-EU 11 5725767 5725767 single base substitution C A intron_variant BRCA-EU 11 5725767 5725767 single base substitution C A upstream_gene_variant BRCA-EU 11 5726227 5726227 single base substitution C T intron_variant BRCA-EU 11 5726227 5726227 single base substitution C T upstream_gene_variant BRCA-EU 11 5727991 5727991 single base substitution A T intron_variant BRCA-EU 11 5727991 5727991 single base substitution A T upstream_gene_variant BRCA-EU 11 5729681 5729681 single base substitution C T intron_variant BRCA-EU 11 5729715 5729715 single base substitution C A intron_variant BRCA-EU 11 5731366 5731366 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 5731366 5731366 single base substitution G A downstream_gene_variant BRCA-EU 11 5731366 5731366 single base substitution G A intron_variant BRCA-EU 11 5732175 5732175 single base substitution A T downstream_gene_variant BRCA-EU 11 5732175 5732175 single base substitution A T intron_variant BRCA-EU 11 5732948 5732948 single base substitution A G downstream_gene_variant BRCA-EU 11 5732948 5732948 single base substitution A G intron_variant BRCA-EU 11 5733082 5733086 deletion of <=200bp TATAT - downstream_gene_variant BRCA-EU 11 5733082 5733086 deletion of <=200bp TATAT - intron_variant BRCA-EU 11 5733536 5733536 single base substitution C T downstream_gene_variant BRCA-EU 11 5733536 5733536 single base substitution C T intron_variant BRCA-EU 11 5733681 5733681 single base substitution G C downstream_gene_variant BRCA-EU 11 5733681 5733681 single base substitution G C intron_variant BRCA-EU 11 5735247 5735247 single base substitution A C downstream_gene_variant BRCA-EU 11 5735247 5735247 single base substitution A C intron_variant BRCA-EU 11 5735429 5735429 single base substitution G C downstream_gene_variant BRCA-EU 11 5735429 5735429 single base substitution G C intron_variant BRCA-EU 11 5736340 5736340 single base substitution C A downstream_gene_variant BRCA-EU 11 5736340 5736340 single base substitution C A intron_variant BRCA-EU 11 5738104 5738104 single base substitution C T downstream_gene_variant BRCA-EU 11 5738104 5738104 single base substitution C T intron_variant BRCA-EU 11 5738446 5738446 single base substitution T C downstream_gene_variant BRCA-EU 11 5738446 5738446 single base substitution T C intron_variant BRCA-EU 11 5739377 5739377 insertion of <=200bp - T downstream_gene_variant BRCA-EU 11 5739377 5739377 insertion of <=200bp - T intron_variant BRCA-EU 11 5741444 5741444 single base substitution G T intron_variant BRCA-EU 11 5742266 5742266 single base substitution G C intron_variant BRCA-EU 11 5743022 5743022 deletion of <=200bp T - intron_variant BRCA-EU 11 5743669 5743669 single base substitution A T intron_variant BRCA-EU 11 5744052 5744052 single base substitution G C intron_variant BRCA-EU 11 5744185 5744185 single base substitution C T intron_variant BRCA-EU 11 5744216 5744216 single base substitution C T intron_variant BRCA-EU 11 5744546 5744546 single base substitution C T intron_variant BRCA-EU 11 5744862 5744862 single base substitution G A intron_variant BRCA-EU 11 5745495 5745495 single base substitution G C intron_variant BRCA-EU 11 5745892 5745892 single base substitution C G intron_variant BRCA-EU 11 5747592 5747592 single base substitution G A intron_variant BRCA-EU 11 5748464 5748464 single base substitution C T intron_variant BRCA-EU 11 5749459 5749459 single base substitution T C intron_variant BRCA-EU 11 5750649 5750649 single base substitution C T intron_variant BRCA-EU 11 5751124 5751124 single base substitution A G intron_variant BRCA-EU 11 5751656 5751656 single base substitution C T intron_variant BRCA-EU 11 5752192 5752192 single base substitution G C intron_variant BRCA-EU 11 5752732 5752732 single base substitution A C intron_variant BRCA-EU 11 5754545 5754545 single base substitution C A intron_variant BRCA-EU 11 5754999 5754999 single base substitution T C intron_variant BRCA-EU 11 5755565 5755565 single base substitution G C intron_variant BRCA-EU 11 5757031 5757031 single base substitution A G intron_variant BRCA-EU 11 5757686 5757686 single base substitution T A 3_prime_UTR_variant BRCA-EU 11 5758013 5758013 single base substitution G C 3_prime_UTR_variant BRCA-EU 11 5759129 5759129 single base substitution T A downstream_gene_variant BRCA-EU 11 5761587 5761587 single base substitution T C downstream_gene_variant BRCA-EU 11 5762649 5762649 single base substitution C T downstream_gene_variant BRCA-EU 11 5762840 5762840 single base substitution G C downstream_gene_variant BRCA-EU 11 5763236 5763269 deletion of <=200bp TACAAAATACAGTTGAAAGCTTTAAATGAGACCA - downstream_gene_variant BRCA-EU 11 5763274 5763274 single base substitution G A downstream_gene_variant BRCA-FR 11 5708044 5708044 single base substitution C T upstream_gene_variant BRCA-FR 11 5711977 5711977 single base substitution G C intron_variant BRCA-FR 11 5711977 5711977 single base substitution G C upstream_gene_variant BRCA-FR 11 5715856 5715856 single base substitution A T intron_variant BRCA-FR 11 5715856 5715856 single base substitution A T upstream_gene_variant BRCA-FR 11 5721636 5721636 single base substitution C T downstream_gene_variant BRCA-FR 11 5721636 5721636 single base substitution C T intron_variant BRCA-FR 11 5722625 5722625 single base substitution A G downstream_gene_variant BRCA-FR 11 5722625 5722625 single base substitution A G intron_variant BRCA-FR 11 5726610 5726610 single base substitution G A intron_variant BRCA-FR 11 5726610 5726610 single base substitution G A upstream_gene_variant BRCA-FR 11 5733681 5733681 single base substitution G C downstream_gene_variant BRCA-FR 11 5733681 5733681 single base substitution G C intron_variant BRCA-FR 11 5744052 5744052 single base substitution G C intron_variant BRCA-FR 11 5752192 5752192 single base substitution G C intron_variant BRCA-FR 11 5758013 5758013 single base substitution G C 3_prime_UTR_variant BRCA-FR 11 5759345 5759345 single base substitution G T downstream_gene_variant BRCA-UK 11 5716400 5716400 single base substitution G T intron_variant BRCA-UK 11 5716400 5716400 single base substitution G T upstream_gene_variant BRCA-UK 11 5724816 5724816 single base substitution C A intron_variant BRCA-UK 11 5724816 5724816 single base substitution C A upstream_gene_variant BRCA-UK 11 5728391 5728391 single base substitution G T intron_variant BRCA-UK 11 5728391 5728391 single base substitution G T upstream_gene_variant BRCA-UK 11 5743669 5743669 single base substitution A T intron_variant BRCA-UK 11 5745115 5745115 single base substitution G A intron_variant BRCA-UK 11 5754052 5754052 single base substitution C G intron_variant BRCA-US 11 5718549 5718549 single base substitution C T downstream_gene_variant BRCA-US 11 5718549 5718549 single base substitution C T exon_variant BRCA-US 11 5718549 5718549 single base substitution C T intron_variant BRCA-US 11 5718549 5718549 single base substitution C T synonymous_variant I165I 495C>T BRCA-US 11 5730436 5730436 single base substitution C T downstream_gene_variant BRCA-US 11 5730436 5730436 single base substitution C T exon_variant BRCA-US 11 5730436 5730436 single base substitution C T intron_variant BRCA-US 11 5730436 5730436 single base substitution C T missense_variant S352L 1055C>T BRCA-US 11 5757883 5757883 single base substitution C G 3_prime_UTR_variant BTCA-JP 11 5757812 5757812 single base substitution C T 3_prime_UTR_variant CESC-US 11 5730382 5730382 single base substitution C G downstream_gene_variant CESC-US 11 5730382 5730382 single base substitution C G exon_variant CESC-US 11 5730382 5730382 single base substitution C G intron_variant CESC-US 11 5730382 5730382 single base substitution C G stop_gained S302* 905C>G CESC-US 11 5730382 5730382 single base substitution C G stop_gained S334* 1001C>G CESC-US 11 5758467 5758467 single base substitution G C downstream_gene_variant CLLE-ES 11 5706360 5706360 single base substitution C T upstream_gene_variant CLLE-ES 11 5709807 5709807 single base substitution G A upstream_gene_variant CLLE-ES 11 5719498 5719498 single base substitution C T downstream_gene_variant CLLE-ES 11 5719498 5719498 single base substitution C T exon_variant CLLE-ES 11 5719498 5719498 single base substitution C T intron_variant CLLE-ES 11 5741603 5741603 single base substitution A T intron_variant CLLE-ES 11 5752920 5752920 single base substitution A G intron_variant CLLE-ES 11 5760501 5760501 single base substitution G T downstream_gene_variant COAD-US 11 5717465 5717465 single base substitution G T exon_variant COAD-US 11 5717465 5717465 single base substitution G T start_lost M1I 3G>T COAD-US 11 5717465 5717465 single base substitution G T upstream_gene_variant COAD-US 11 5717765 5717765 deletion of <=200bp A - exon_variant COAD-US 11 5717765 5717765 deletion of <=200bp A - frameshift_variant G101 COAD-US 11 5719556 5719556 single base substitution G A downstream_gene_variant COAD-US 11 5719556 5719556 single base substitution G A exon_variant COAD-US 11 5719556 5719556 single base substitution G A synonymous_variant Q145Q 435G>A COAD-US 11 5719556 5719556 single base substitution G A synonymous_variant Q177Q 531G>A COAD-US 11 5719750 5719750 single base substitution G C downstream_gene_variant COAD-US 11 5719750 5719750 single base substitution G C exon_variant COAD-US 11 5719750 5719750 single base substitution G C missense_variant R210T 629G>C COAD-US 11 5719750 5719750 single base substitution G C missense_variant R242T 725G>C COAD-US 11 5730620 5730620 single base substitution G T downstream_gene_variant COAD-US 11 5730620 5730620 single base substitution G T exon_variant COAD-US 11 5730620 5730620 single base substitution G T intron_variant COAD-US 11 5730620 5730620 single base substitution G T missense_variant Q413H 1239G>T COAD-US 11 5757785 5757785 single base substitution C T 3_prime_UTR_variant COAD-US 11 5757842 5757842 single base substitution G A 3_prime_UTR_variant COAD-US 11 5758069 5758069 single base substitution C T 3_prime_UTR_variant COAD-US 11 5758138 5758138 single base substitution G T 3_prime_UTR_variant COCA-CN 11 5717647 5717647 single base substitution G A exon_variant COCA-CN 11 5717647 5717647 single base substitution G A missense_variant R62K 185G>A COCA-CN 11 5717647 5717647 single base substitution G A upstream_gene_variant COCA-CN 11 5719835 5719835 single base substitution T C downstream_gene_variant COCA-CN 11 5719835 5719835 single base substitution T C intron_variant COCA-CN 11 5721620 5721620 single base substitution A C downstream_gene_variant COCA-CN 11 5721620 5721620 single base substitution A C intron_variant COCA-CN 11 5721640 5721640 single base substitution T C downstream_gene_variant COCA-CN 11 5721640 5721640 single base substitution T C intron_variant COCA-CN 11 5724717 5724717 single base substitution G A intron_variant COCA-CN 11 5724717 5724717 single base substitution G A upstream_gene_variant COCA-CN 11 5729497 5729497 single base substitution C A 3_prime_UTR_variant COCA-CN 11 5729497 5729497 single base substitution C A exon_variant COCA-CN 11 5729497 5729497 single base substitution C A missense_variant L20I 58C>A COCA-CN 11 5729497 5729497 single base substitution C A missense_variant L258I 772C>A COCA-CN 11 5729497 5729497 single base substitution C A missense_variant L290I 868C>A COCA-CN 11 5729497 5729497 single base substitution C A missense_variant L40I 118C>A COCA-CN 11 5729568 5729568 single base substitution G A intron_variant COCA-CN 11 5729946 5729946 single base substitution C T intron_variant COCA-CN 11 5739159 5739159 single base substitution G C downstream_gene_variant COCA-CN 11 5739159 5739159 single base substitution G C intron_variant COCA-CN 11 5742659 5742659 single base substitution A G intron_variant COCA-CN 11 5746435 5746435 single base substitution T A intron_variant COCA-CN 11 5750657 5750657 single base substitution T C intron_variant COCA-CN 11 5757659 5757659 single base substitution A G 3_prime_UTR_variant COCA-CN 11 5758277 5758277 single base substitution T G 3_prime_UTR_variant COCA-CN 11 5758621 5758621 single base substitution C A downstream_gene_variant EOPC-DE 11 5706397 5706397 single base substitution C T upstream_gene_variant EOPC-DE 11 5750276 5750276 single base substitution A C intron_variant EOPC-DE 11 5751680 5751680 single base substitution C A intron_variant ESAD-UK 11 5706082 5706082 single base substitution G C upstream_gene_variant ESAD-UK 11 5707742 5707742 single base substitution C T upstream_gene_variant ESAD-UK 11 5707965 5707965 single base substitution C A upstream_gene_variant ESAD-UK 11 5708959 5708959 single base substitution G A upstream_gene_variant ESAD-UK 11 5709074 5709074 single base substitution G A upstream_gene_variant ESAD-UK 11 5710587 5710587 single base substitution A G upstream_gene_variant ESAD-UK 11 5710901 5710901 single base substitution A C upstream_gene_variant ESAD-UK 11 5711297 5711297 single base substitution G A intron_variant ESAD-UK 11 5711297 5711297 single base substitution G A upstream_gene_variant ESAD-UK 11 5713279 5713279 single base substitution G A intron_variant ESAD-UK 11 5713279 5713279 single base substitution G A upstream_gene_variant ESAD-UK 11 5714493 5714493 single base substitution G T intron_variant ESAD-UK 11 5714493 5714493 single base substitution G T upstream_gene_variant ESAD-UK 11 5714877 5714877 single base substitution G A intron_variant ESAD-UK 11 5714877 5714877 single base substitution G A upstream_gene_variant ESAD-UK 11 5715824 5715824 single base substitution T C intron_variant ESAD-UK 11 5715824 5715824 single base substitution T C upstream_gene_variant ESAD-UK 11 5717377 5717377 single base substitution G A intron_variant ESAD-UK 11 5717377 5717377 single base substitution G A upstream_gene_variant ESAD-UK 11 5717781 5717781 single base substitution T G exon_variant ESAD-UK 11 5717781 5717781 single base substitution T G missense_variant F107V 319T>G ESAD-UK 11 5717830 5717830 single base substitution A G exon_variant ESAD-UK 11 5717830 5717830 single base substitution A G missense_variant Q123R 368A>G ESAD-UK 11 5718091 5718091 single base substitution G T exon_variant ESAD-UK 11 5718091 5718091 single base substitution G T intron_variant ESAD-UK 11 5721510 5721510 insertion of <=200bp - T downstream_gene_variant ESAD-UK 11 5721510 5721510 insertion of <=200bp - T intron_variant ESAD-UK 11 5722527 5722527 single base substitution T A downstream_gene_variant ESAD-UK 11 5722527 5722527 single base substitution T A intron_variant ESAD-UK 11 5725233 5725233 single base substitution G T intron_variant ESAD-UK 11 5725233 5725233 single base substitution G T upstream_gene_variant ESAD-UK 11 5726014 5726014 single base substitution G C intron_variant ESAD-UK 11 5726014 5726014 single base substitution G C upstream_gene_variant ESAD-UK 11 5726044 5726044 single base substitution A G intron_variant ESAD-UK 11 5726044 5726044 single base substitution A G upstream_gene_variant ESAD-UK 11 5726492 5726492 single base substitution C T intron_variant ESAD-UK 11 5726492 5726492 single base substitution C T upstream_gene_variant ESAD-UK 11 5726808 5726808 single base substitution T C intron_variant ESAD-UK 11 5726808 5726808 single base substitution T C upstream_gene_variant ESAD-UK 11 5727663 5727663 single base substitution A G intron_variant ESAD-UK 11 5727663 5727663 single base substitution A G upstream_gene_variant ESAD-UK 11 5727804 5727804 single base substitution G T exon_variant ESAD-UK 11 5727804 5727804 single base substitution G T intron_variant ESAD-UK 11 5727804 5727804 single base substitution G T upstream_gene_variant ESAD-UK 11 5727995 5727995 single base substitution A C intron_variant ESAD-UK 11 5727995 5727995 single base substitution A C upstream_gene_variant ESAD-UK 11 5730070 5730070 single base substitution C T intron_variant ESAD-UK 11 5730697 5730697 single base substitution C T downstream_gene_variant ESAD-UK 11 5730697 5730697 single base substitution C T intron_variant ESAD-UK 11 5730697 5730697 single base substitution C T missense_variant P439L 1316C>T ESAD-UK 11 5730902 5730902 single base substitution T G 3_prime_UTR_variant ESAD-UK 11 5730902 5730902 single base substitution T G downstream_gene_variant ESAD-UK 11 5730902 5730902 single base substitution T G intron_variant ESAD-UK 11 5731076 5731076 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 5731076 5731076 single base substitution G A downstream_gene_variant ESAD-UK 11 5731076 5731076 single base substitution G A intron_variant ESAD-UK 11 5731235 5731235 single base substitution A C 3_prime_UTR_variant ESAD-UK 11 5731235 5731235 single base substitution A C downstream_gene_variant ESAD-UK 11 5731235 5731235 single base substitution A C intron_variant ESAD-UK 11 5731346 5731346 single base substitution A C 3_prime_UTR_variant ESAD-UK 11 5731346 5731346 single base substitution A C downstream_gene_variant ESAD-UK 11 5731346 5731346 single base substitution A C intron_variant ESAD-UK 11 5732319 5732319 single base substitution A C downstream_gene_variant ESAD-UK 11 5732319 5732319 single base substitution A C intron_variant ESAD-UK 11 5732539 5732539 single base substitution A C downstream_gene_variant ESAD-UK 11 5732539 5732539 single base substitution A C intron_variant ESAD-UK 11 5732766 5732766 single base substitution C T downstream_gene_variant ESAD-UK 11 5732766 5732766 single base substitution C T intron_variant ESAD-UK 11 5733119 5733119 single base substitution A C downstream_gene_variant ESAD-UK 11 5733119 5733119 single base substitution A C intron_variant ESAD-UK 11 5733234 5733234 single base substitution A G downstream_gene_variant ESAD-UK 11 5733234 5733234 single base substitution A G intron_variant ESAD-UK 11 5733304 5733304 single base substitution G T downstream_gene_variant ESAD-UK 11 5733304 5733304 single base substitution G T intron_variant ESAD-UK 11 5733962 5733962 single base substitution T G downstream_gene_variant ESAD-UK 11 5733962 5733962 single base substitution T G intron_variant ESAD-UK 11 5734017 5734017 single base substitution G T downstream_gene_variant ESAD-UK 11 5734017 5734017 single base substitution G T intron_variant ESAD-UK 11 5734074 5734074 single base substitution G C downstream_gene_variant ESAD-UK 11 5734074 5734074 single base substitution G C intron_variant ESAD-UK 11 5734655 5734655 single base substitution G A downstream_gene_variant ESAD-UK 11 5734655 5734655 single base substitution G A intron_variant ESAD-UK 11 5734860 5734860 single base substitution G A downstream_gene_variant ESAD-UK 11 5734860 5734860 single base substitution G A intron_variant ESAD-UK 11 5735246 5735258 deletion of <=200bp AAGTTCTGGCCAT - downstream_gene_variant ESAD-UK 11 5735246 5735258 deletion of <=200bp AAGTTCTGGCCAT - intron_variant ESAD-UK 11 5735247 5735247 single base substitution A C downstream_gene_variant ESAD-UK 11 5735247 5735247 single base substitution A C intron_variant ESAD-UK 11 5735247 5735247 single base substitution A T downstream_gene_variant ESAD-UK 11 5735247 5735247 single base substitution A T intron_variant ESAD-UK 11 5736345 5736345 single base substitution C T downstream_gene_variant ESAD-UK 11 5736345 5736345 single base substitution C T intron_variant ESAD-UK 11 5736388 5736388 single base substitution T G downstream_gene_variant ESAD-UK 11 5736388 5736388 single base substitution T G intron_variant ESAD-UK 11 5737993 5737993 single base substitution C T downstream_gene_variant ESAD-UK 11 5737993 5737993 single base substitution C T intron_variant ESAD-UK 11 5738934 5738934 single base substitution G A downstream_gene_variant ESAD-UK 11 5738934 5738934 single base substitution G A intron_variant ESAD-UK 11 5739413 5739413 single base substitution A G downstream_gene_variant ESAD-UK 11 5739413 5739413 single base substitution A G intron_variant ESAD-UK 11 5739428 5739428 single base substitution T C downstream_gene_variant ESAD-UK 11 5739428 5739428 single base substitution T C intron_variant ESAD-UK 11 5739547 5739547 single base substitution T C downstream_gene_variant ESAD-UK 11 5739547 5739547 single base substitution T C intron_variant ESAD-UK 11 5739761 5739761 single base substitution T C downstream_gene_variant ESAD-UK 11 5739761 5739761 single base substitution T C intron_variant ESAD-UK 11 5740089 5740089 single base substitution A T downstream_gene_variant ESAD-UK 11 5740089 5740089 single base substitution A T intron_variant ESAD-UK 11 5740578 5740578 single base substitution C T downstream_gene_variant ESAD-UK 11 5740578 5740578 single base substitution C T intron_variant ESAD-UK 11 5740891 5740891 single base substitution C T downstream_gene_variant ESAD-UK 11 5740891 5740891 single base substitution C T intron_variant ESAD-UK 11 5740916 5740916 single base substitution C T downstream_gene_variant ESAD-UK 11 5740916 5740916 single base substitution C T intron_variant ESAD-UK 11 5741297 5741297 single base substitution C T intron_variant ESAD-UK 11 5741693 5741693 single base substitution G A intron_variant ESAD-UK 11 5742185 5742185 single base substitution G A intron_variant ESAD-UK 11 5746330 5746330 single base substitution A C intron_variant ESAD-UK 11 5746855 5746855 single base substitution T C intron_variant ESAD-UK 11 5747633 5747633 single base substitution C A intron_variant ESAD-UK 11 5748130 5748130 single base substitution G A intron_variant ESAD-UK 11 5749521 5749521 single base substitution G T intron_variant ESAD-UK 11 5750605 5750605 single base substitution C A intron_variant ESAD-UK 11 5750784 5750784 single base substitution T G intron_variant ESAD-UK 11 5751102 5751102 single base substitution T C intron_variant ESAD-UK 11 5752507 5752507 single base substitution A C intron_variant ESAD-UK 11 5752616 5752616 single base substitution A C intron_variant ESAD-UK 11 5752816 5752816 single base substitution C G intron_variant ESAD-UK 11 5754334 5754334 single base substitution T G intron_variant ESAD-UK 11 5754919 5754919 single base substitution T C intron_variant ESAD-UK 11 5754921 5754921 single base substitution T G intron_variant ESAD-UK 11 5754944 5754944 deletion of <=200bp T - intron_variant ESAD-UK 11 5755082 5755082 single base substitution A C intron_variant ESAD-UK 11 5755185 5755185 single base substitution A C intron_variant ESAD-UK 11 5755417 5755417 single base substitution T G missense_variant F33V 97T>G ESAD-UK 11 5755417 5755417 single base substitution T G missense_variant F34V 100T>G ESAD-UK 11 5756801 5756801 single base substitution G T intron_variant ESAD-UK 11 5757005 5757005 single base substitution G T intron_variant ESAD-UK 11 5757602 5757602 single base substitution A G 3_prime_UTR_variant ESAD-UK 11 5757794 5757794 single base substitution C A 3_prime_UTR_variant ESAD-UK 11 5758012 5758012 single base substitution A C 3_prime_UTR_variant ESAD-UK 11 5758130 5758130 single base substitution T G 3_prime_UTR_variant ESAD-UK 11 5758318 5758318 single base substitution T A 3_prime_UTR_variant ESAD-UK 11 5758344 5758344 single base substitution G A downstream_gene_variant ESAD-UK 11 5759577 5759577 single base substitution T G downstream_gene_variant ESAD-UK 11 5759672 5759672 single base substitution A T downstream_gene_variant ESAD-UK 11 5761195 5761195 single base substitution T G downstream_gene_variant ESAD-UK 11 5761934 5761934 single base substitution G T downstream_gene_variant ESAD-UK 11 5762172 5762172 single base substitution A C downstream_gene_variant ESAD-UK 11 5762300 5762300 single base substitution A C downstream_gene_variant ESCA-CN 11 5719689 5719689 single base substitution C A downstream_gene_variant ESCA-CN 11 5719689 5719689 single base substitution C A exon_variant ESCA-CN 11 5719689 5719689 single base substitution C A intron_variant ESCA-CN 11 5719689 5719689 single base substitution C A missense_variant Q190K 568C>A ESCA-CN 11 5719689 5719689 single base substitution C A missense_variant Q222K 664C>A ESCA-CN 11 5757787 5757787 single base substitution C T 3_prime_UTR_variant ESCA-CN 11 5758062 5758062 single base substitution T C 3_prime_UTR_variant GBM-US 11 5730417 5730417 single base substitution G A downstream_gene_variant GBM-US 11 5730417 5730417 single base substitution G A exon_variant GBM-US 11 5730417 5730417 single base substitution G A intron_variant GBM-US 11 5730417 5730417 single base substitution G A missense_variant G346S 1036G>A GBM-US 11 5758585 5758585 single base substitution T C downstream_gene_variant KIRC-US 11 5717667 5717667 single base substitution C T exon_variant KIRC-US 11 5717667 5717667 single base substitution C T stop_gained R69* 205C>T KIRC-US 11 5717667 5717667 single base substitution C T upstream_gene_variant KIRC-US 11 5727831 5727831 single base substitution T C exon_variant KIRC-US 11 5727831 5727831 single base substitution T C missense_variant I221T 662T>C KIRC-US 11 5727831 5727831 single base substitution T C missense_variant I253T 758T>C KIRC-US 11 5727831 5727831 single base substitution T C missense_variant I3T 8T>C KIRC-US 11 5727831 5727831 single base substitution T C upstream_gene_variant KIRP-US 11 5717510 5717510 single base substitution C T exon_variant KIRP-US 11 5717510 5717510 single base substitution C T synonymous_variant P16P 48C>T KIRP-US 11 5717510 5717510 single base substitution C T upstream_gene_variant LAML-KR 11 5717762 5717762 single base substitution T C exon_variant LAML-KR 11 5717762 5717762 single base substitution T C synonymous_variant H100H 300T>C LAML-KR 11 5724840 5724840 single base substitution C T intron_variant LAML-KR 11 5724840 5724840 single base substitution C T upstream_gene_variant LAML-KR 11 5758833 5758833 single base substitution T C downstream_gene_variant LICA-FR 11 5706276 5706276 single base substitution T C upstream_gene_variant LICA-FR 11 5721874 5721874 single base substitution C T downstream_gene_variant LICA-FR 11 5721874 5721874 single base substitution C T intron_variant LICA-FR 11 5729947 5729947 deletion of <=200bp T - intron_variant LICA-FR 11 5736927 5736927 single base substitution G A downstream_gene_variant LICA-FR 11 5736927 5736927 single base substitution G A intron_variant LICA-FR 11 5737878 5737878 single base substitution A G downstream_gene_variant LICA-FR 11 5737878 5737878 single base substitution A G intron_variant LICA-FR 11 5748147 5748147 single base substitution A T intron_variant LICA-FR 11 5751420 5751420 deletion of <=200bp T - intron_variant LICA-FR 11 5753082 5753085 deletion of <=200bp CCCG - intron_variant LIHC-US 11 5718574 5718574 single base substitution G A downstream_gene_variant LIHC-US 11 5718574 5718574 single base substitution G A exon_variant LIHC-US 11 5718574 5718574 single base substitution G A intron_variant LIHC-US 11 5718574 5718574 single base substitution G A splice_donor_variant LIHC-US 11 5730736 5730736 single base substitution G A downstream_gene_variant LIHC-US 11 5730736 5730736 single base substitution G A intron_variant LIHC-US 11 5730736 5730736 single base substitution G A missense_variant G452D 1355G>A LIHC-US 11 5758461 5758461 single base substitution T A downstream_gene_variant LINC-JP 11 5708962 5708962 single base substitution G C upstream_gene_variant LINC-JP 11 5710101 5710101 single base substitution C T upstream_gene_variant LINC-JP 11 5717212 5717212 single base substitution A G intron_variant LINC-JP 11 5717212 5717212 single base substitution A G upstream_gene_variant LINC-JP 11 5719929 5719929 single base substitution G T downstream_gene_variant LINC-JP 11 5719929 5719929 single base substitution G T intron_variant LINC-JP 11 5723317 5723320 deletion of <=200bp TTAG - downstream_gene_variant LINC-JP 11 5723317 5723320 deletion of <=200bp TTAG - intron_variant LINC-JP 11 5723317 5723320 deletion of <=200bp TTAG - upstream_gene_variant LINC-JP 11 5724531 5724531 single base substitution G A downstream_gene_variant LINC-JP 11 5724531 5724531 single base substitution G A intron_variant LINC-JP 11 5724531 5724531 single base substitution G A upstream_gene_variant LINC-JP 11 5728025 5728025 single base substitution G T intron_variant LINC-JP 11 5728025 5728025 single base substitution G T upstream_gene_variant LINC-JP 11 5729349 5729349 single base substitution G T intron_variant LINC-JP 11 5729349 5729349 single base substitution G T upstream_gene_variant LINC-JP 11 5730154 5730154 single base substitution T A intron_variant LINC-JP 11 5733712 5733712 single base substitution A T downstream_gene_variant LINC-JP 11 5733712 5733712 single base substitution A T intron_variant LINC-JP 11 5760812 5760812 single base substitution C A downstream_gene_variant LINC-JP 11 5762562 5762562 single base substitution C T downstream_gene_variant LIRI-JP 11 5706108 5706108 single base substitution A G upstream_gene_variant LIRI-JP 11 5711023 5711023 single base substitution T C 5_prime_UTR_variant LIRI-JP 11 5711023 5711023 single base substitution T C upstream_gene_variant LIRI-JP 11 5712737 5712737 single base substitution T C intron_variant LIRI-JP 11 5712737 5712737 single base substitution T C upstream_gene_variant LIRI-JP 11 5713538 5713538 single base substitution A G intron_variant LIRI-JP 11 5713538 5713538 single base substitution A G upstream_gene_variant LIRI-JP 11 5715270 5715270 single base substitution G C intron_variant LIRI-JP 11 5715270 5715270 single base substitution G C upstream_gene_variant LIRI-JP 11 5715732 5715732 deletion of <=200bp C - intron_variant LIRI-JP 11 5715732 5715732 deletion of <=200bp C - upstream_gene_variant LIRI-JP 11 5718759 5718759 single base substitution A G downstream_gene_variant LIRI-JP 11 5718759 5718759 single base substitution A G exon_variant LIRI-JP 11 5718759 5718759 single base substitution A G intron_variant LIRI-JP 11 5718768 5718768 single base substitution A G downstream_gene_variant LIRI-JP 11 5718768 5718768 single base substitution A G exon_variant LIRI-JP 11 5718768 5718768 single base substitution A G intron_variant LIRI-JP 11 5719124 5719124 single base substitution G A downstream_gene_variant LIRI-JP 11 5719124 5719124 single base substitution G A exon_variant LIRI-JP 11 5719124 5719124 single base substitution G A intron_variant LIRI-JP 11 5720831 5720831 single base substitution A C downstream_gene_variant LIRI-JP 11 5720831 5720831 single base substitution A C intron_variant LIRI-JP 11 5722373 5722373 single base substitution A G downstream_gene_variant LIRI-JP 11 5722373 5722373 single base substitution A G intron_variant LIRI-JP 11 5723050 5723050 single base substitution T C downstream_gene_variant LIRI-JP 11 5723050 5723050 single base substitution T C intron_variant LIRI-JP 11 5723050 5723050 single base substitution T C upstream_gene_variant LIRI-JP 11 5723909 5723909 single base substitution A G downstream_gene_variant LIRI-JP 11 5723909 5723909 single base substitution A G intron_variant LIRI-JP 11 5723909 5723909 single base substitution A G upstream_gene_variant LIRI-JP 11 5726177 5726177 single base substitution G A intron_variant LIRI-JP 11 5726177 5726177 single base substitution G A upstream_gene_variant LIRI-JP 11 5726240 5726240 single base substitution A C intron_variant LIRI-JP 11 5726240 5726240 single base substitution A C upstream_gene_variant LIRI-JP 11 5729728 5729728 deletion of <=200bp C - intron_variant LIRI-JP 11 5729853 5729853 single base substitution T A intron_variant LIRI-JP 11 5730599 5730599 single base substitution C A downstream_gene_variant LIRI-JP 11 5730599 5730599 single base substitution C A exon_variant LIRI-JP 11 5730599 5730599 single base substitution C A intron_variant LIRI-JP 11 5730599 5730599 single base substitution C A synonymous_variant G406G 1218C>A LIRI-JP 11 5730950 5730950 single base substitution A G 3_prime_UTR_variant LIRI-JP 11 5730950 5730950 single base substitution A G downstream_gene_variant LIRI-JP 11 5730950 5730950 single base substitution A G intron_variant LIRI-JP 11 5738209 5738209 single base substitution A G downstream_gene_variant LIRI-JP 11 5738209 5738209 single base substitution A G intron_variant LIRI-JP 11 5739035 5739035 single base substitution T C downstream_gene_variant LIRI-JP 11 5739035 5739035 single base substitution T C intron_variant LIRI-JP 11 5740162 5740162 single base substitution C A downstream_gene_variant LIRI-JP 11 5740162 5740162 single base substitution C A intron_variant LIRI-JP 11 5740247 5740247 single base substitution A T downstream_gene_variant LIRI-JP 11 5740247 5740247 single base substitution A T intron_variant LIRI-JP 11 5740316 5740316 deletion of <=200bp C - downstream_gene_variant LIRI-JP 11 5740316 5740316 deletion of <=200bp C - intron_variant LIRI-JP 11 5740723 5740723 single base substitution G T downstream_gene_variant LIRI-JP 11 5740723 5740723 single base substitution G T intron_variant LIRI-JP 11 5742356 5742356 single base substitution A G intron_variant LIRI-JP 11 5742540 5742540 single base substitution A G intron_variant LIRI-JP 11 5742686 5742686 single base substitution C T intron_variant LIRI-JP 11 5742887 5742887 single base substitution C A intron_variant LIRI-JP 11 5742938 5742938 single base substitution C T intron_variant LIRI-JP 11 5746164 5746164 single base substitution G A intron_variant LIRI-JP 11 5748916 5748916 single base substitution A G intron_variant LIRI-JP 11 5749244 5749244 single base substitution A C intron_variant LIRI-JP 11 5749355 5749355 single base substitution G A intron_variant LIRI-JP 11 5749543 5749543 single base substitution A G intron_variant LIRI-JP 11 5750562 5750562 single base substitution G T intron_variant LIRI-JP 11 5750999 5750999 single base substitution T G intron_variant LIRI-JP 11 5751065 5751065 single base substitution A G intron_variant LIRI-JP 11 5752419 5752419 single base substitution G A intron_variant LIRI-JP 11 5754938 5754938 single base substitution A T intron_variant LIRI-JP 11 5756454 5756454 single base substitution A T intron_variant LIRI-JP 11 5760495 5760495 single base substitution T C downstream_gene_variant LIRI-JP 11 5763186 5763186 single base substitution A G downstream_gene_variant LUSC-KR 11 5710248 5710248 single base substitution G A upstream_gene_variant LUSC-KR 11 5711266 5711266 single base substitution G C intron_variant LUSC-KR 11 5711266 5711266 single base substitution G C upstream_gene_variant LUSC-KR 11 5712831 5712831 single base substitution T G intron_variant LUSC-KR 11 5712831 5712831 single base substitution T G upstream_gene_variant LUSC-KR 11 5718234 5718234 single base substitution C G exon_variant LUSC-KR 11 5718234 5718234 single base substitution C G intron_variant LUSC-KR 11 5718399 5718399 single base substitution C T downstream_gene_variant LUSC-KR 11 5718399 5718399 single base substitution C T intron_variant LUSC-KR 11 5719470 5719470 single base substitution C T downstream_gene_variant LUSC-KR 11 5719470 5719470 single base substitution C T exon_variant LUSC-KR 11 5719470 5719470 single base substitution C T intron_variant LUSC-KR 11 5719667 5719667 single base substitution T C downstream_gene_variant LUSC-KR 11 5719667 5719667 single base substitution T C exon_variant LUSC-KR 11 5719667 5719667 single base substitution T C intron_variant LUSC-KR 11 5719667 5719667 single base substitution T C synonymous_variant D182D 546T>C LUSC-KR 11 5719667 5719667 single base substitution T C synonymous_variant D214D 642T>C LUSC-KR 11 5724837 5724837 single base substitution G T intron_variant LUSC-KR 11 5724837 5724837 single base substitution G T upstream_gene_variant LUSC-KR 11 5727103 5727103 single base substitution T C intron_variant LUSC-KR 11 5727103 5727103 single base substitution T C upstream_gene_variant LUSC-KR 11 5728821 5728821 single base substitution C T intron_variant LUSC-KR 11 5728821 5728821 single base substitution C T upstream_gene_variant LUSC-KR 11 5729146 5729146 single base substitution G T intron_variant LUSC-KR 11 5729146 5729146 single base substitution G T upstream_gene_variant LUSC-KR 11 5735127 5735127 single base substitution C G downstream_gene_variant LUSC-KR 11 5735127 5735127 single base substitution C G intron_variant LUSC-KR 11 5736490 5736490 single base substitution G T downstream_gene_variant LUSC-KR 11 5736490 5736490 single base substitution G T intron_variant LUSC-KR 11 5737285 5737285 single base substitution G C downstream_gene_variant LUSC-KR 11 5737285 5737285 single base substitution G C intron_variant LUSC-KR 11 5744419 5744419 single base substitution A T intron_variant LUSC-KR 11 5744848 5744848 single base substitution G T intron_variant LUSC-KR 11 5749527 5749527 single base substitution G A intron_variant LUSC-KR 11 5751667 5751667 single base substitution C A intron_variant LUSC-KR 11 5752495 5752495 single base substitution G A intron_variant LUSC-KR 11 5754116 5754116 single base substitution C T intron_variant LUSC-KR 11 5758511 5758511 single base substitution C A downstream_gene_variant LUSC-KR 11 5761304 5761304 single base substitution T C downstream_gene_variant LUSC-KR 11 5763153 5763153 single base substitution G T downstream_gene_variant LUSC-US 11 5719584 5719584 single base substitution T A downstream_gene_variant LUSC-US 11 5719584 5719584 single base substitution T A exon_variant LUSC-US 11 5719584 5719584 single base substitution T A missense_variant F155I 463T>A LUSC-US 11 5719584 5719584 single base substitution T A missense_variant F187I 559T>A LUSC-US 11 5719761 5719761 single base substitution G C downstream_gene_variant LUSC-US 11 5719761 5719761 single base substitution G C exon_variant LUSC-US 11 5719761 5719761 single base substitution G C missense_variant V214L 640G>C LUSC-US 11 5719761 5719761 single base substitution G C missense_variant V246L 736G>C LUSC-US 11 5730645 5730645 single base substitution G C downstream_gene_variant LUSC-US 11 5730645 5730645 single base substitution G C exon_variant LUSC-US 11 5730645 5730645 single base substitution G C intron_variant LUSC-US 11 5730645 5730645 single base substitution G C missense_variant E422Q 1264G>C LUSC-US 11 5758097 5758097 single base substitution G T 3_prime_UTR_variant LUSC-US 11 5758258 5758258 single base substitution T A 3_prime_UTR_variant LUSC-US 11 5758307 5758307 single base substitution G T 3_prime_UTR_variant MALY-DE 11 5712046 5712046 single base substitution T C intron_variant MALY-DE 11 5712046 5712046 single base substitution T C upstream_gene_variant MALY-DE 11 5712234 5712234 single base substitution T G intron_variant MALY-DE 11 5712234 5712234 single base substitution T G upstream_gene_variant MALY-DE 11 5721778 5721778 single base substitution T G downstream_gene_variant MALY-DE 11 5721778 5721778 single base substitution T G intron_variant MALY-DE 11 5721793 5721793 single base substitution T A downstream_gene_variant MALY-DE 11 5721793 5721793 single base substitution T A intron_variant MALY-DE 11 5723948 5723948 single base substitution G A downstream_gene_variant MALY-DE 11 5723948 5723948 single base substitution G A intron_variant MALY-DE 11 5723948 5723948 single base substitution G A upstream_gene_variant MALY-DE 11 5727689 5727689 single base substitution A G intron_variant MALY-DE 11 5727689 5727689 single base substitution A G upstream_gene_variant MALY-DE 11 5727691 5727691 single base substitution A G intron_variant MALY-DE 11 5727691 5727691 single base substitution A G upstream_gene_variant MALY-DE 11 5728777 5728777 single base substitution C T intron_variant MALY-DE 11 5728777 5728777 single base substitution C T upstream_gene_variant MALY-DE 11 5731802 5731802 single base substitution A G 3_prime_UTR_variant MALY-DE 11 5731802 5731802 single base substitution A G downstream_gene_variant MALY-DE 11 5731802 5731802 single base substitution A G intron_variant MALY-DE 11 5734099 5734099 single base substitution A G downstream_gene_variant MALY-DE 11 5734099 5734099 single base substitution A G intron_variant MALY-DE 11 5748726 5748726 insertion of <=200bp - A intron_variant MALY-DE 11 5751430 5751430 single base substitution T A intron_variant MALY-DE 11 5753792 5753792 single base substitution C A intron_variant MELA-AU 11 5706763 5706763 single base substitution A G upstream_gene_variant MELA-AU 11 5706831 5706831 single base substitution G A upstream_gene_variant MELA-AU 11 5707353 5707353 single base substitution C T upstream_gene_variant MELA-AU 11 5707367 5707367 single base substitution C T upstream_gene_variant MELA-AU 11 5707406 5707406 single base substitution G A upstream_gene_variant MELA-AU 11 5708037 5708037 single base substitution A T upstream_gene_variant MELA-AU 11 5709298 5709298 single base substitution C T upstream_gene_variant MELA-AU 11 5709348 5709348 single base substitution G A upstream_gene_variant MELA-AU 11 5709413 5709413 single base substitution C T upstream_gene_variant MELA-AU 11 5709438 5709438 single base substitution G A upstream_gene_variant MELA-AU 11 5710471 5710471 single base substitution G A upstream_gene_variant MELA-AU 11 5710534 5710534 single base substitution G A upstream_gene_variant MELA-AU 11 5710682 5710682 single base substitution C T upstream_gene_variant MELA-AU 11 5711576 5711576 single base substitution C T intron_variant MELA-AU 11 5711576 5711576 single base substitution C T upstream_gene_variant MELA-AU 11 5711580 5711580 single base substitution G T intron_variant MELA-AU 11 5711580 5711580 single base substitution G T upstream_gene_variant MELA-AU 11 5711939 5711939 single base substitution C T intron_variant MELA-AU 11 5711939 5711939 single base substitution C T upstream_gene_variant MELA-AU 11 5712163 5712163 single base substitution C T intron_variant MELA-AU 11 5712163 5712163 single base substitution C T upstream_gene_variant MELA-AU 11 5712243 5712243 single base substitution G A intron_variant MELA-AU 11 5712243 5712243 single base substitution G A upstream_gene_variant MELA-AU 11 5712393 5712394 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 11 5712393 5712394 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 5712421 5712421 single base substitution G A intron_variant MELA-AU 11 5712488 5712488 single base substitution C T intron_variant MELA-AU 11 5712618 5712618 single base substitution G A intron_variant MELA-AU 11 5712921 5712921 single base substitution C T intron_variant MELA-AU 11 5712921 5712921 single base substitution C T upstream_gene_variant MELA-AU 11 5713119 5713119 single base substitution G A intron_variant MELA-AU 11 5713119 5713119 single base substitution G A upstream_gene_variant MELA-AU 11 5713200 5713200 single base substitution A T intron_variant MELA-AU 11 5713200 5713200 single base substitution A T upstream_gene_variant MELA-AU 11 5713369 5713369 single base substitution C T intron_variant MELA-AU 11 5713369 5713369 single base substitution C T upstream_gene_variant MELA-AU 11 5713490 5713491 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 5713490 5713491 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 5713554 5713554 single base substitution C T intron_variant MELA-AU 11 5713554 5713554 single base substitution C T upstream_gene_variant MELA-AU 11 5713844 5713844 single base substitution A C intron_variant MELA-AU 11 5713844 5713844 single base substitution A C upstream_gene_variant MELA-AU 11 5713974 5713974 single base substitution G A intron_variant MELA-AU 11 5713974 5713974 single base substitution G A upstream_gene_variant MELA-AU 11 5714463 5714463 single base substitution A C intron_variant MELA-AU 11 5714463 5714463 single base substitution A C upstream_gene_variant MELA-AU 11 5714510 5714510 single base substitution G A intron_variant MELA-AU 11 5714510 5714510 single base substitution G A upstream_gene_variant MELA-AU 11 5714520 5714520 single base substitution G A intron_variant MELA-AU 11 5714520 5714520 single base substitution G A upstream_gene_variant MELA-AU 11 5714927 5714927 single base substitution G A intron_variant MELA-AU 11 5714927 5714927 single base substitution G A upstream_gene_variant MELA-AU 11 5715002 5715002 single base substitution T C intron_variant MELA-AU 11 5715002 5715002 single base substitution T C upstream_gene_variant MELA-AU 11 5715327 5715327 single base substitution A C intron_variant MELA-AU 11 5715327 5715327 single base substitution A C upstream_gene_variant MELA-AU 11 5715538 5715538 single base substitution C T intron_variant MELA-AU 11 5715538 5715538 single base substitution C T upstream_gene_variant MELA-AU 11 5715560 5715560 single base substitution T G intron_variant MELA-AU 11 5715560 5715560 single base substitution T G upstream_gene_variant MELA-AU 11 5715606 5715606 single base substitution C T intron_variant MELA-AU 11 5715606 5715606 single base substitution C T upstream_gene_variant MELA-AU 11 5715903 5715903 single base substitution G A intron_variant MELA-AU 11 5715903 5715903 single base substitution G A upstream_gene_variant MELA-AU 11 5716005 5716005 single base substitution C T intron_variant MELA-AU 11 5716005 5716005 single base substitution C T upstream_gene_variant MELA-AU 11 5716180 5716180 single base substitution G A intron_variant MELA-AU 11 5716180 5716180 single base substitution G A upstream_gene_variant MELA-AU 11 5716353 5716353 single base substitution C T intron_variant MELA-AU 11 5716353 5716353 single base substitution C T upstream_gene_variant MELA-AU 11 5716483 5716483 single base substitution G A intron_variant MELA-AU 11 5716483 5716483 single base substitution G A upstream_gene_variant MELA-AU 11 5716656 5716656 single base substitution A G intron_variant MELA-AU 11 5716656 5716656 single base substitution A G upstream_gene_variant MELA-AU 11 5716740 5716740 single base substitution G A intron_variant MELA-AU 11 5716740 5716740 single base substitution G A upstream_gene_variant MELA-AU 11 5717730 5717730 single base substitution G A exon_variant MELA-AU 11 5717730 5717730 single base substitution G A missense_variant E90K 268G>A MELA-AU 11 5717730 5717730 single base substitution G A upstream_gene_variant MELA-AU 11 5717855 5717855 single base substitution C T exon_variant MELA-AU 11 5717855 5717855 single base substitution C T synonymous_variant F131F 393C>T MELA-AU 11 5717941 5717941 single base substitution G A exon_variant MELA-AU 11 5717941 5717941 single base substitution G A intron_variant MELA-AU 11 5718211 5718211 single base substitution G A exon_variant MELA-AU 11 5718211 5718211 single base substitution G A intron_variant MELA-AU 11 5718333 5718333 single base substitution C T downstream_gene_variant MELA-AU 11 5718333 5718333 single base substitution C T intron_variant MELA-AU 11 5718815 5718815 single base substitution C T downstream_gene_variant MELA-AU 11 5718815 5718815 single base substitution C T exon_variant MELA-AU 11 5718815 5718815 single base substitution C T intron_variant MELA-AU 11 5718898 5718898 single base substitution C T downstream_gene_variant MELA-AU 11 5718898 5718898 single base substitution C T exon_variant MELA-AU 11 5718898 5718898 single base substitution C T intron_variant MELA-AU 11 5718899 5718899 single base substitution C T downstream_gene_variant MELA-AU 11 5718899 5718899 single base substitution C T exon_variant MELA-AU 11 5718899 5718899 single base substitution C T intron_variant MELA-AU 11 5718915 5718915 single base substitution C T downstream_gene_variant MELA-AU 11 5718915 5718915 single base substitution C T exon_variant MELA-AU 11 5718915 5718915 single base substitution C T intron_variant MELA-AU 11 5719174 5719174 single base substitution C T downstream_gene_variant MELA-AU 11 5719174 5719174 single base substitution C T exon_variant MELA-AU 11 5719174 5719174 single base substitution C T intron_variant MELA-AU 11 5719470 5719470 single base substitution C T downstream_gene_variant MELA-AU 11 5719470 5719470 single base substitution C T exon_variant MELA-AU 11 5719470 5719470 single base substitution C T intron_variant MELA-AU 11 5719590 5719590 single base substitution G A downstream_gene_variant MELA-AU 11 5719590 5719590 single base substitution G A exon_variant MELA-AU 11 5719590 5719590 single base substitution G A missense_variant E157K 469G>A MELA-AU 11 5719590 5719590 single base substitution G A missense_variant E189K 565G>A MELA-AU 11 5719756 5719756 single base substitution C T downstream_gene_variant MELA-AU 11 5719756 5719756 single base substitution C T exon_variant MELA-AU 11 5719756 5719756 single base substitution C T missense_variant S212L 635C>T MELA-AU 11 5719756 5719756 single base substitution C T missense_variant S244L 731C>T MELA-AU 11 5719804 5719804 single base substitution A G downstream_gene_variant MELA-AU 11 5719804 5719804 single base substitution A G intron_variant MELA-AU 11 5719813 5719813 single base substitution G A downstream_gene_variant MELA-AU 11 5719813 5719813 single base substitution G A intron_variant MELA-AU 11 5719837 5719837 single base substitution C T downstream_gene_variant MELA-AU 11 5719837 5719837 single base substitution C T intron_variant MELA-AU 11 5719846 5719846 single base substitution C T downstream_gene_variant MELA-AU 11 5719846 5719846 single base substitution C T intron_variant MELA-AU 11 5719890 5719890 single base substitution C T downstream_gene_variant MELA-AU 11 5719890 5719890 single base substitution C T intron_variant MELA-AU 11 5719910 5719910 single base substitution T C downstream_gene_variant MELA-AU 11 5719910 5719910 single base substitution T C intron_variant MELA-AU 11 5719971 5719971 single base substitution C T downstream_gene_variant MELA-AU 11 5719971 5719971 single base substitution C T intron_variant MELA-AU 11 5720060 5720060 single base substitution C T downstream_gene_variant MELA-AU 11 5720060 5720060 single base substitution C T intron_variant MELA-AU 11 5720135 5720135 single base substitution C T downstream_gene_variant MELA-AU 11 5720135 5720135 single base substitution C T intron_variant MELA-AU 11 5720321 5720321 single base substitution T A downstream_gene_variant MELA-AU 11 5720321 5720321 single base substitution T A intron_variant MELA-AU 11 5720364 5720364 single base substitution C T downstream_gene_variant MELA-AU 11 5720364 5720364 single base substitution C T intron_variant MELA-AU 11 5721215 5721215 single base substitution A G downstream_gene_variant MELA-AU 11 5721215 5721215 single base substitution A G intron_variant MELA-AU 11 5721441 5721441 single base substitution C T downstream_gene_variant MELA-AU 11 5721441 5721441 single base substitution C T intron_variant MELA-AU 11 5721747 5721747 single base substitution T C downstream_gene_variant MELA-AU 11 5721747 5721747 single base substitution T C intron_variant MELA-AU 11 5722014 5722014 single base substitution C T downstream_gene_variant MELA-AU 11 5722014 5722014 single base substitution C T intron_variant MELA-AU 11 5722166 5722166 single base substitution G A downstream_gene_variant MELA-AU 11 5722166 5722166 single base substitution G A intron_variant MELA-AU 11 5722211 5722211 single base substitution C T downstream_gene_variant MELA-AU 11 5722211 5722211 single base substitution C T intron_variant MELA-AU 11 5722507 5722507 single base substitution T G downstream_gene_variant MELA-AU 11 5722507 5722507 single base substitution T G intron_variant MELA-AU 11 5722516 5722516 single base substitution C T downstream_gene_variant MELA-AU 11 5722516 5722516 single base substitution C T intron_variant MELA-AU 11 5723184 5723184 single base substitution C T downstream_gene_variant MELA-AU 11 5723184 5723184 single base substitution C T intron_variant MELA-AU 11 5723184 5723184 single base substitution C T upstream_gene_variant MELA-AU 11 5723658 5723658 single base substitution A C downstream_gene_variant MELA-AU 11 5723658 5723658 single base substitution A C intron_variant MELA-AU 11 5723658 5723658 single base substitution A C upstream_gene_variant MELA-AU 11 5723812 5723812 single base substitution G A downstream_gene_variant MELA-AU 11 5723812 5723812 single base substitution G A intron_variant MELA-AU 11 5723812 5723812 single base substitution G A upstream_gene_variant MELA-AU 11 5724351 5724351 single base substitution G A downstream_gene_variant MELA-AU 11 5724351 5724351 single base substitution G A intron_variant MELA-AU 11 5724351 5724351 single base substitution G A upstream_gene_variant MELA-AU 11 5724426 5724426 single base substitution C T downstream_gene_variant MELA-AU 11 5724426 5724426 single base substitution C T intron_variant MELA-AU 11 5724426 5724426 single base substitution C T upstream_gene_variant MELA-AU 11 5724848 5724848 single base substitution C T intron_variant MELA-AU 11 5724848 5724848 single base substitution C T upstream_gene_variant MELA-AU 11 5724850 5724850 single base substitution C T intron_variant MELA-AU 11 5724850 5724850 single base substitution C T upstream_gene_variant MELA-AU 11 5724976 5724976 single base substitution C T intron_variant MELA-AU 11 5724976 5724976 single base substitution C T upstream_gene_variant MELA-AU 11 5724993 5724993 single base substitution G A intron_variant MELA-AU 11 5724993 5724993 single base substitution G A upstream_gene_variant MELA-AU 11 5725586 5725586 single base substitution T A intron_variant MELA-AU 11 5725586 5725586 single base substitution T A upstream_gene_variant MELA-AU 11 5725673 5725673 single base substitution C T intron_variant MELA-AU 11 5725673 5725673 single base substitution C T upstream_gene_variant MELA-AU 11 5725701 5725701 single base substitution G A intron_variant MELA-AU 11 5725701 5725701 single base substitution G A upstream_gene_variant MELA-AU 11 5725758 5725758 single base substitution C T intron_variant MELA-AU 11 5725758 5725758 single base substitution C T upstream_gene_variant MELA-AU 11 5725873 5725873 single base substitution A G intron_variant MELA-AU 11 5725873 5725873 single base substitution A G upstream_gene_variant MELA-AU 11 5725878 5725878 single base substitution C T intron_variant MELA-AU 11 5725878 5725878 single base substitution C T upstream_gene_variant MELA-AU 11 5725961 5725961 single base substitution T A intron_variant MELA-AU 11 5725961 5725961 single base substitution T A upstream_gene_variant MELA-AU 11 5725962 5725962 single base substitution T A intron_variant MELA-AU 11 5725962 5725962 single base substitution T A upstream_gene_variant MELA-AU 11 5725965 5725965 single base substitution C T intron_variant MELA-AU 11 5725965 5725965 single base substitution C T upstream_gene_variant MELA-AU 11 5725990 5725990 single base substitution C T intron_variant MELA-AU 11 5725990 5725990 single base substitution C T upstream_gene_variant MELA-AU 11 5726201 5726201 single base substitution G A intron_variant MELA-AU 11 5726201 5726201 single base substitution G A upstream_gene_variant MELA-AU 11 5726211 5726212 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 11 5726211 5726212 multiple base substitution (>=2bp and <=200bp) GA AT upstream_gene_variant MELA-AU 11 5726243 5726243 single base substitution C T intron_variant MELA-AU 11 5726243 5726243 single base substitution C T upstream_gene_variant MELA-AU 11 5726908 5726908 single base substitution G A intron_variant MELA-AU 11 5726908 5726908 single base substitution G A upstream_gene_variant MELA-AU 11 5727027 5727027 single base substitution G A intron_variant MELA-AU 11 5727027 5727027 single base substitution G A upstream_gene_variant MELA-AU 11 5727172 5727172 single base substitution G T intron_variant MELA-AU 11 5727172 5727172 single base substitution G T upstream_gene_variant MELA-AU 11 5727249 5727249 single base substitution T A intron_variant MELA-AU 11 5727249 5727249 single base substitution T A upstream_gene_variant MELA-AU 11 5727288 5727288 single base substitution T A intron_variant MELA-AU 11 5727288 5727288 single base substitution T A upstream_gene_variant MELA-AU 11 5727304 5727304 single base substitution C T intron_variant MELA-AU 11 5727304 5727304 single base substitution C T upstream_gene_variant MELA-AU 11 5727381 5727381 single base substitution A T intron_variant MELA-AU 11 5727381 5727381 single base substitution A T upstream_gene_variant MELA-AU 11 5727441 5727441 single base substitution C T intron_variant MELA-AU 11 5727441 5727441 single base substitution C T upstream_gene_variant MELA-AU 11 5727515 5727515 single base substitution C T intron_variant MELA-AU 11 5727515 5727515 single base substitution C T upstream_gene_variant MELA-AU 11 5728046 5728046 single base substitution C T intron_variant MELA-AU 11 5728046 5728046 single base substitution C T upstream_gene_variant MELA-AU 11 5728121 5728121 single base substitution T A intron_variant MELA-AU 11 5728121 5728121 single base substitution T A upstream_gene_variant MELA-AU 11 5728443 5728443 single base substitution G A intron_variant MELA-AU 11 5728443 5728443 single base substitution G A upstream_gene_variant MELA-AU 11 5728979 5728979 single base substitution T C intron_variant MELA-AU 11 5728979 5728979 single base substitution T C upstream_gene_variant MELA-AU 11 5729022 5729022 single base substitution A G intron_variant MELA-AU 11 5729022 5729022 single base substitution A G upstream_gene_variant MELA-AU 11 5729122 5729122 single base substitution G A intron_variant MELA-AU 11 5729122 5729122 single base substitution G A upstream_gene_variant MELA-AU 11 5729181 5729181 single base substitution C T intron_variant MELA-AU 11 5729181 5729181 single base substitution C T upstream_gene_variant MELA-AU 11 5729284 5729284 single base substitution C T intron_variant MELA-AU 11 5729284 5729284 single base substitution C T upstream_gene_variant MELA-AU 11 5729357 5729357 single base substitution G A intron_variant MELA-AU 11 5729357 5729357 single base substitution G A upstream_gene_variant MELA-AU 11 5729421 5729421 single base substitution G A 3_prime_UTR_variant MELA-AU 11 5729421 5729421 single base substitution G A exon_variant MELA-AU 11 5729421 5729421 single base substitution G A synonymous_variant L14L 42G>A MELA-AU 11 5729421 5729421 single base substitution G A synonymous_variant L232L 696G>A MELA-AU 11 5729421 5729421 single base substitution G A synonymous_variant L264L 792G>A MELA-AU 11 5729421 5729421 single base substitution G A upstream_gene_variant MELA-AU 11 5729573 5729573 single base substitution G A intron_variant MELA-AU 11 5729617 5729617 single base substitution G A intron_variant MELA-AU 11 5729716 5729716 single base substitution C T intron_variant MELA-AU 11 5729887 5729887 single base substitution T G intron_variant MELA-AU 11 5729894 5729894 single base substitution C A intron_variant MELA-AU 11 5730037 5730037 single base substitution C T intron_variant MELA-AU 11 5730081 5730081 single base substitution G A intron_variant MELA-AU 11 5730180 5730180 single base substitution C T intron_variant MELA-AU 11 5730317 5730317 single base substitution G A 3_prime_UTR_variant MELA-AU 11 5730317 5730317 single base substitution G A exon_variant MELA-AU 11 5730317 5730317 single base substitution G A intron_variant MELA-AU 11 5730317 5730317 single base substitution G A synonymous_variant S280S 840G>A MELA-AU 11 5730317 5730317 single base substitution G A synonymous_variant S312S 936G>A MELA-AU 11 5730350 5730350 single base substitution G A 3_prime_UTR_variant MELA-AU 11 5730350 5730350 single base substitution G A exon_variant MELA-AU 11 5730350 5730350 single base substitution G A intron_variant MELA-AU 11 5730350 5730350 single base substitution G A synonymous_variant V291V 873G>A MELA-AU 11 5730350 5730350 single base substitution G A synonymous_variant V323V 969G>A MELA-AU 11 5730612 5730612 single base substitution G T downstream_gene_variant MELA-AU 11 5730612 5730612 single base substitution G T exon_variant MELA-AU 11 5730612 5730612 single base substitution G T intron_variant MELA-AU 11 5730612 5730612 single base substitution G T stop_gained G411* 1231G>T MELA-AU 11 5730620 5730620 single base substitution G A downstream_gene_variant MELA-AU 11 5730620 5730620 single base substitution G A exon_variant MELA-AU 11 5730620 5730620 single base substitution G A intron_variant MELA-AU 11 5730620 5730620 single base substitution G A synonymous_variant Q413Q 1239G>A MELA-AU 11 5730719 5730719 single base substitution C T downstream_gene_variant MELA-AU 11 5730719 5730719 single base substitution C T intron_variant MELA-AU 11 5730719 5730719 single base substitution C T synonymous_variant F446F 1338C>T MELA-AU 11 5730805 5730805 single base substitution C T downstream_gene_variant MELA-AU 11 5730805 5730805 single base substitution C T intron_variant MELA-AU 11 5730805 5730805 single base substitution C T missense_variant S475F 1424C>T MELA-AU 11 5730849 5730849 single base substitution C T downstream_gene_variant MELA-AU 11 5730849 5730849 single base substitution C T intron_variant MELA-AU 11 5730849 5730849 single base substitution C T missense_variant P490S 1468C>T MELA-AU 11 5730891 5730891 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5730891 5730891 single base substitution C T downstream_gene_variant MELA-AU 11 5730891 5730891 single base substitution C T intron_variant MELA-AU 11 5731088 5731088 single base substitution G A 3_prime_UTR_variant MELA-AU 11 5731088 5731088 single base substitution G A downstream_gene_variant MELA-AU 11 5731088 5731088 single base substitution G A intron_variant MELA-AU 11 5731125 5731125 single base substitution T A 3_prime_UTR_variant MELA-AU 11 5731125 5731125 single base substitution T A downstream_gene_variant MELA-AU 11 5731125 5731125 single base substitution T A intron_variant MELA-AU 11 5731191 5731191 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5731191 5731191 single base substitution C T downstream_gene_variant MELA-AU 11 5731191 5731191 single base substitution C T intron_variant MELA-AU 11 5731298 5731298 single base substitution G A 3_prime_UTR_variant MELA-AU 11 5731298 5731298 single base substitution G A downstream_gene_variant MELA-AU 11 5731298 5731298 single base substitution G A intron_variant MELA-AU 11 5731335 5731336 multiple base substitution (>=2bp and <=200bp) AT TC 3_prime_UTR_variant MELA-AU 11 5731335 5731336 multiple base substitution (>=2bp and <=200bp) AT TC downstream_gene_variant MELA-AU 11 5731335 5731336 multiple base substitution (>=2bp and <=200bp) AT TC intron_variant MELA-AU 11 5731360 5731360 single base substitution G A 3_prime_UTR_variant MELA-AU 11 5731360 5731360 single base substitution G A downstream_gene_variant MELA-AU 11 5731360 5731360 single base substitution G A intron_variant MELA-AU 11 5731405 5731405 single base substitution G A 3_prime_UTR_variant MELA-AU 11 5731405 5731405 single base substitution G A downstream_gene_variant MELA-AU 11 5731405 5731405 single base substitution G A intron_variant MELA-AU 11 5731603 5731603 single base substitution G A 3_prime_UTR_variant MELA-AU 11 5731603 5731603 single base substitution G A downstream_gene_variant MELA-AU 11 5731603 5731603 single base substitution G A intron_variant MELA-AU 11 5731623 5731623 single base substitution G C 3_prime_UTR_variant MELA-AU 11 5731623 5731623 single base substitution G C downstream_gene_variant MELA-AU 11 5731623 5731623 single base substitution G C intron_variant MELA-AU 11 5731683 5731683 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5731683 5731683 single base substitution C T downstream_gene_variant MELA-AU 11 5731683 5731683 single base substitution C T intron_variant MELA-AU 11 5731815 5731815 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5731815 5731815 single base substitution C T downstream_gene_variant MELA-AU 11 5731815 5731815 single base substitution C T intron_variant MELA-AU 11 5732539 5732539 single base substitution A C downstream_gene_variant MELA-AU 11 5732539 5732539 single base substitution A C intron_variant MELA-AU 11 5732749 5732749 single base substitution C T downstream_gene_variant MELA-AU 11 5732749 5732749 single base substitution C T intron_variant MELA-AU 11 5732796 5732796 single base substitution C T downstream_gene_variant MELA-AU 11 5732796 5732796 single base substitution C T intron_variant MELA-AU 11 5732856 5732856 single base substitution C T downstream_gene_variant MELA-AU 11 5732856 5732856 single base substitution C T intron_variant MELA-AU 11 5732894 5732894 deletion of <=200bp A - downstream_gene_variant MELA-AU 11 5732894 5732894 deletion of <=200bp A - intron_variant MELA-AU 11 5733133 5733133 single base substitution C T downstream_gene_variant MELA-AU 11 5733133 5733133 single base substitution C T intron_variant MELA-AU 11 5733324 5733324 single base substitution C T downstream_gene_variant MELA-AU 11 5733324 5733324 single base substitution C T intron_variant MELA-AU 11 5733393 5733393 single base substitution G A downstream_gene_variant MELA-AU 11 5733393 5733393 single base substitution G A intron_variant MELA-AU 11 5733431 5733431 single base substitution C T downstream_gene_variant MELA-AU 11 5733431 5733431 single base substitution C T intron_variant MELA-AU 11 5733475 5733475 single base substitution A T downstream_gene_variant MELA-AU 11 5733475 5733475 single base substitution A T intron_variant MELA-AU 11 5733576 5733576 single base substitution C T downstream_gene_variant MELA-AU 11 5733576 5733576 single base substitution C T intron_variant MELA-AU 11 5734155 5734155 single base substitution G A downstream_gene_variant MELA-AU 11 5734155 5734155 single base substitution G A intron_variant MELA-AU 11 5734234 5734234 single base substitution A C downstream_gene_variant MELA-AU 11 5734234 5734234 single base substitution A C intron_variant MELA-AU 11 5734251 5734251 single base substitution C T downstream_gene_variant MELA-AU 11 5734251 5734251 single base substitution C T intron_variant MELA-AU 11 5734332 5734332 single base substitution G A downstream_gene_variant MELA-AU 11 5734332 5734332 single base substitution G A intron_variant MELA-AU 11 5734410 5734410 single base substitution G A downstream_gene_variant MELA-AU 11 5734410 5734410 single base substitution G A intron_variant MELA-AU 11 5734567 5734567 single base substitution T A downstream_gene_variant MELA-AU 11 5734567 5734567 single base substitution T A intron_variant MELA-AU 11 5734569 5734569 single base substitution C T downstream_gene_variant MELA-AU 11 5734569 5734569 single base substitution C T intron_variant MELA-AU 11 5734699 5734699 single base substitution G A downstream_gene_variant MELA-AU 11 5734699 5734699 single base substitution G A intron_variant MELA-AU 11 5734765 5734765 single base substitution G A downstream_gene_variant MELA-AU 11 5734765 5734765 single base substitution G A intron_variant MELA-AU 11 5734785 5734785 single base substitution C T downstream_gene_variant MELA-AU 11 5734785 5734785 single base substitution C T intron_variant MELA-AU 11 5734947 5734947 single base substitution C T downstream_gene_variant MELA-AU 11 5734947 5734947 single base substitution C T intron_variant MELA-AU 11 5735009 5735009 single base substitution C T downstream_gene_variant MELA-AU 11 5735009 5735009 single base substitution C T intron_variant MELA-AU 11 5735024 5735024 single base substitution T C downstream_gene_variant MELA-AU 11 5735024 5735024 single base substitution T C intron_variant MELA-AU 11 5735030 5735030 single base substitution C T downstream_gene_variant MELA-AU 11 5735030 5735030 single base substitution C T intron_variant MELA-AU 11 5735375 5735375 single base substitution C T downstream_gene_variant MELA-AU 11 5735375 5735375 single base substitution C T intron_variant MELA-AU 11 5735486 5735486 single base substitution C T downstream_gene_variant MELA-AU 11 5735486 5735486 single base substitution C T intron_variant MELA-AU 11 5735549 5735549 single base substitution T A downstream_gene_variant MELA-AU 11 5735549 5735549 single base substitution T A intron_variant MELA-AU 11 5735633 5735633 single base substitution T G downstream_gene_variant MELA-AU 11 5735633 5735633 single base substitution T G intron_variant MELA-AU 11 5736205 5736205 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5736205 5736205 single base substitution C T downstream_gene_variant MELA-AU 11 5736205 5736205 single base substitution C T intron_variant MELA-AU 11 5736341 5736341 single base substitution G A downstream_gene_variant MELA-AU 11 5736341 5736341 single base substitution G A intron_variant MELA-AU 11 5736385 5736385 single base substitution G A downstream_gene_variant MELA-AU 11 5736385 5736385 single base substitution G A intron_variant MELA-AU 11 5736679 5736679 single base substitution T G downstream_gene_variant MELA-AU 11 5736679 5736679 single base substitution T G intron_variant MELA-AU 11 5736741 5736741 single base substitution G A downstream_gene_variant MELA-AU 11 5736741 5736741 single base substitution G A intron_variant MELA-AU 11 5736763 5736763 single base substitution G A downstream_gene_variant MELA-AU 11 5736763 5736763 single base substitution G A intron_variant MELA-AU 11 5736844 5736844 single base substitution T A downstream_gene_variant MELA-AU 11 5736844 5736844 single base substitution T A intron_variant MELA-AU 11 5736904 5736904 single base substitution C T downstream_gene_variant MELA-AU 11 5736904 5736904 single base substitution C T intron_variant MELA-AU 11 5737175 5737175 single base substitution C T downstream_gene_variant MELA-AU 11 5737175 5737175 single base substitution C T intron_variant MELA-AU 11 5737212 5737212 single base substitution G A downstream_gene_variant MELA-AU 11 5737212 5737212 single base substitution G A intron_variant MELA-AU 11 5737232 5737232 single base substitution C T downstream_gene_variant MELA-AU 11 5737232 5737232 single base substitution C T intron_variant MELA-AU 11 5737325 5737325 single base substitution T G downstream_gene_variant MELA-AU 11 5737325 5737325 single base substitution T G intron_variant MELA-AU 11 5737441 5737441 single base substitution C T downstream_gene_variant MELA-AU 11 5737441 5737441 single base substitution C T intron_variant MELA-AU 11 5737983 5737983 single base substitution C T downstream_gene_variant MELA-AU 11 5737983 5737983 single base substitution C T intron_variant MELA-AU 11 5738071 5738071 single base substitution G A downstream_gene_variant MELA-AU 11 5738071 5738071 single base substitution G A intron_variant MELA-AU 11 5738084 5738084 single base substitution C T downstream_gene_variant MELA-AU 11 5738084 5738084 single base substitution C T intron_variant MELA-AU 11 5738258 5738258 single base substitution T A downstream_gene_variant MELA-AU 11 5738258 5738258 single base substitution T A intron_variant MELA-AU 11 5738371 5738371 single base substitution T A downstream_gene_variant MELA-AU 11 5738371 5738371 single base substitution T A intron_variant MELA-AU 11 5738391 5738391 single base substitution G A downstream_gene_variant MELA-AU 11 5738391 5738391 single base substitution G A intron_variant MELA-AU 11 5738601 5738601 single base substitution G A downstream_gene_variant MELA-AU 11 5738601 5738601 single base substitution G A intron_variant MELA-AU 11 5738612 5738612 single base substitution G A downstream_gene_variant MELA-AU 11 5738612 5738612 single base substitution G A intron_variant MELA-AU 11 5738874 5738874 single base substitution C T downstream_gene_variant MELA-AU 11 5738874 5738874 single base substitution C T intron_variant MELA-AU 11 5739060 5739060 single base substitution T A downstream_gene_variant MELA-AU 11 5739060 5739060 single base substitution T A intron_variant MELA-AU 11 5739215 5739215 single base substitution C T downstream_gene_variant MELA-AU 11 5739215 5739215 single base substitution C T intron_variant MELA-AU 11 5739259 5739259 single base substitution C T downstream_gene_variant MELA-AU 11 5739259 5739259 single base substitution C T intron_variant MELA-AU 11 5739297 5739297 single base substitution C G downstream_gene_variant MELA-AU 11 5739297 5739297 single base substitution C G intron_variant MELA-AU 11 5739367 5739367 single base substitution G A downstream_gene_variant MELA-AU 11 5739367 5739367 single base substitution G A intron_variant MELA-AU 11 5739523 5739523 single base substitution C T downstream_gene_variant MELA-AU 11 5739523 5739523 single base substitution C T intron_variant MELA-AU 11 5739524 5739524 single base substitution C T downstream_gene_variant MELA-AU 11 5739524 5739524 single base substitution C T intron_variant MELA-AU 11 5739670 5739670 single base substitution G A downstream_gene_variant MELA-AU 11 5739670 5739670 single base substitution G A intron_variant MELA-AU 11 5739694 5739694 single base substitution G A downstream_gene_variant MELA-AU 11 5739694 5739694 single base substitution G A intron_variant MELA-AU 11 5739701 5739701 single base substitution C T downstream_gene_variant MELA-AU 11 5739701 5739701 single base substitution C T intron_variant MELA-AU 11 5739843 5739843 single base substitution G A downstream_gene_variant MELA-AU 11 5739843 5739843 single base substitution G A intron_variant MELA-AU 11 5739964 5739964 single base substitution C T downstream_gene_variant MELA-AU 11 5739964 5739964 single base substitution C T intron_variant MELA-AU 11 5740021 5740021 single base substitution G T downstream_gene_variant MELA-AU 11 5740021 5740021 single base substitution G T intron_variant MELA-AU 11 5740099 5740099 single base substitution C T downstream_gene_variant MELA-AU 11 5740099 5740099 single base substitution C T intron_variant MELA-AU 11 5740260 5740260 single base substitution T C downstream_gene_variant MELA-AU 11 5740260 5740260 single base substitution T C intron_variant MELA-AU 11 5740439 5740439 single base substitution C T downstream_gene_variant MELA-AU 11 5740439 5740439 single base substitution C T intron_variant MELA-AU 11 5740584 5740584 single base substitution T A downstream_gene_variant MELA-AU 11 5740584 5740584 single base substitution T A intron_variant MELA-AU 11 5740613 5740613 single base substitution C T downstream_gene_variant MELA-AU 11 5740613 5740613 single base substitution C T intron_variant MELA-AU 11 5740633 5740633 single base substitution C T downstream_gene_variant MELA-AU 11 5740633 5740633 single base substitution C T intron_variant MELA-AU 11 5740686 5740686 single base substitution C T downstream_gene_variant MELA-AU 11 5740686 5740686 single base substitution C T intron_variant MELA-AU 11 5740785 5740785 single base substitution T A downstream_gene_variant MELA-AU 11 5740785 5740785 single base substitution T A intron_variant MELA-AU 11 5741113 5741113 single base substitution G A downstream_gene_variant MELA-AU 11 5741113 5741113 single base substitution G A intron_variant MELA-AU 11 5741211 5741211 single base substitution T C downstream_gene_variant MELA-AU 11 5741211 5741211 single base substitution T C intron_variant MELA-AU 11 5741238 5741238 single base substitution C T downstream_gene_variant MELA-AU 11 5741238 5741238 single base substitution C T intron_variant MELA-AU 11 5741259 5741259 single base substitution C T downstream_gene_variant MELA-AU 11 5741259 5741259 single base substitution C T intron_variant MELA-AU 11 5741304 5741304 single base substitution C T intron_variant MELA-AU 11 5741367 5741367 single base substitution C T intron_variant MELA-AU 11 5741524 5741525 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 5741525 5741525 single base substitution G A intron_variant MELA-AU 11 5741671 5741671 single base substitution G A intron_variant MELA-AU 11 5741679 5741679 single base substitution C T intron_variant MELA-AU 11 5741826 5741826 single base substitution G A intron_variant MELA-AU 11 5741999 5741999 single base substitution G A intron_variant MELA-AU 11 5742140 5742140 single base substitution G A intron_variant MELA-AU 11 5742156 5742156 single base substitution G A intron_variant MELA-AU 11 5742157 5742157 single base substitution G A intron_variant MELA-AU 11 5742199 5742199 single base substitution T A intron_variant MELA-AU 11 5742217 5742217 single base substitution C T intron_variant MELA-AU 11 5742533 5742533 single base substitution A G intron_variant MELA-AU 11 5742618 5742618 single base substitution C T intron_variant MELA-AU 11 5742699 5742699 single base substitution C T intron_variant MELA-AU 11 5742796 5742796 single base substitution A G intron_variant MELA-AU 11 5742797 5742797 single base substitution C T intron_variant MELA-AU 11 5743006 5743006 single base substitution T C intron_variant MELA-AU 11 5743400 5743400 single base substitution A T intron_variant MELA-AU 11 5743483 5743483 single base substitution C T intron_variant MELA-AU 11 5743517 5743517 single base substitution C T intron_variant MELA-AU 11 5743524 5743524 single base substitution C T intron_variant MELA-AU 11 5743721 5743721 single base substitution C T intron_variant MELA-AU 11 5743794 5743794 single base substitution C T intron_variant MELA-AU 11 5743806 5743806 single base substitution C T intron_variant MELA-AU 11 5743839 5743839 single base substitution C T intron_variant MELA-AU 11 5743909 5743909 single base substitution G A intron_variant MELA-AU 11 5744153 5744153 single base substitution G A intron_variant MELA-AU 11 5744280 5744280 single base substitution C T intron_variant MELA-AU 11 5744338 5744338 single base substitution C T intron_variant MELA-AU 11 5744340 5744340 single base substitution C T intron_variant MELA-AU 11 5744348 5744348 single base substitution T C intron_variant MELA-AU 11 5744361 5744361 single base substitution G A intron_variant MELA-AU 11 5744495 5744495 single base substitution C T intron_variant MELA-AU 11 5744530 5744530 single base substitution G A intron_variant MELA-AU 11 5744562 5744562 single base substitution C T intron_variant MELA-AU 11 5744622 5744623 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 5744623 5744623 single base substitution G A intron_variant MELA-AU 11 5744625 5744625 single base substitution A C intron_variant MELA-AU 11 5744699 5744699 single base substitution C T intron_variant MELA-AU 11 5744756 5744756 insertion of <=200bp - A intron_variant MELA-AU 11 5744896 5744896 single base substitution C T intron_variant MELA-AU 11 5744991 5744991 single base substitution G A intron_variant MELA-AU 11 5745049 5745049 single base substitution C T intron_variant MELA-AU 11 5745058 5745058 single base substitution G A intron_variant MELA-AU 11 5745089 5745089 single base substitution G A intron_variant MELA-AU 11 5745143 5745143 single base substitution A T intron_variant MELA-AU 11 5745233 5745233 single base substitution G A intron_variant MELA-AU 11 5745285 5745285 single base substitution C T intron_variant MELA-AU 11 5745474 5745474 single base substitution G A intron_variant MELA-AU 11 5745591 5745591 single base substitution G C intron_variant MELA-AU 11 5745627 5745627 single base substitution C T intron_variant MELA-AU 11 5745775 5745775 single base substitution C T intron_variant MELA-AU 11 5745828 5745828 single base substitution C A intron_variant MELA-AU 11 5745941 5745942 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 11 5746094 5746094 single base substitution C T intron_variant MELA-AU 11 5746295 5746295 single base substitution G A intron_variant MELA-AU 11 5746359 5746359 single base substitution G A intron_variant MELA-AU 11 5746445 5746445 single base substitution G A intron_variant MELA-AU 11 5746707 5746707 single base substitution G A intron_variant MELA-AU 11 5746781 5746781 single base substitution G A intron_variant MELA-AU 11 5746794 5746794 single base substitution C G intron_variant MELA-AU 11 5746837 5746837 single base substitution T C intron_variant MELA-AU 11 5746858 5746858 single base substitution A T intron_variant MELA-AU 11 5747006 5747006 single base substitution G A intron_variant MELA-AU 11 5747042 5747042 single base substitution G A intron_variant MELA-AU 11 5747069 5747069 single base substitution G A intron_variant MELA-AU 11 5747088 5747088 single base substitution G A intron_variant MELA-AU 11 5747257 5747258 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 11 5747741 5747741 single base substitution C T intron_variant MELA-AU 11 5747747 5747747 single base substitution C T intron_variant MELA-AU 11 5747777 5747777 single base substitution C T intron_variant MELA-AU 11 5748196 5748196 single base substitution C T intron_variant MELA-AU 11 5748413 5748413 single base substitution C T intron_variant MELA-AU 11 5748593 5748593 single base substitution C T intron_variant MELA-AU 11 5748631 5748631 single base substitution C T intron_variant MELA-AU 11 5748751 5748751 single base substitution C T intron_variant MELA-AU 11 5748789 5748789 single base substitution G A intron_variant MELA-AU 11 5748804 5748804 single base substitution A T intron_variant MELA-AU 11 5748921 5748921 single base substitution G A intron_variant MELA-AU 11 5749007 5749007 single base substitution C T intron_variant MELA-AU 11 5749155 5749155 single base substitution C T intron_variant MELA-AU 11 5749293 5749293 single base substitution G A intron_variant MELA-AU 11 5749303 5749303 single base substitution G A intron_variant MELA-AU 11 5749403 5749403 single base substitution C T intron_variant MELA-AU 11 5749527 5749527 single base substitution G A intron_variant MELA-AU 11 5749601 5749601 single base substitution G A intron_variant MELA-AU 11 5749632 5749632 single base substitution T C intron_variant MELA-AU 11 5749849 5749849 single base substitution C T intron_variant MELA-AU 11 5749963 5749963 single base substitution G A intron_variant MELA-AU 11 5750056 5750056 single base substitution C T intron_variant MELA-AU 11 5750511 5750511 single base substitution G C intron_variant MELA-AU 11 5750563 5750563 single base substitution G A intron_variant MELA-AU 11 5750638 5750638 single base substitution C T intron_variant MELA-AU 11 5750650 5750650 single base substitution G A intron_variant MELA-AU 11 5750824 5750824 single base substitution C T intron_variant MELA-AU 11 5751033 5751033 single base substitution G A intron_variant MELA-AU 11 5751096 5751096 single base substitution C T intron_variant MELA-AU 11 5751134 5751134 single base substitution C T intron_variant MELA-AU 11 5751219 5751219 single base substitution G A intron_variant MELA-AU 11 5751629 5751629 single base substitution G A intron_variant MELA-AU 11 5751675 5751675 single base substitution C T intron_variant MELA-AU 11 5751797 5751797 single base substitution G A intron_variant MELA-AU 11 5751833 5751833 single base substitution C T intron_variant MELA-AU 11 5751854 5751854 single base substitution C T intron_variant MELA-AU 11 5752011 5752011 single base substitution G A intron_variant MELA-AU 11 5752220 5752220 single base substitution G A intron_variant MELA-AU 11 5752229 5752229 single base substitution A G intron_variant MELA-AU 11 5752235 5752235 single base substitution T A intron_variant MELA-AU 11 5752271 5752271 single base substitution G T intron_variant MELA-AU 11 5752288 5752288 single base substitution C T intron_variant MELA-AU 11 5752293 5752293 single base substitution C T intron_variant MELA-AU 11 5752377 5752377 single base substitution C T intron_variant MELA-AU 11 5752781 5752781 single base substitution C T intron_variant MELA-AU 11 5752782 5752782 single base substitution C T intron_variant MELA-AU 11 5752815 5752815 single base substitution C T intron_variant MELA-AU 11 5752884 5752884 single base substitution C T intron_variant MELA-AU 11 5753064 5753064 single base substitution C T intron_variant MELA-AU 11 5753082 5753082 single base substitution C T intron_variant MELA-AU 11 5753084 5753084 single base substitution C T intron_variant MELA-AU 11 5753142 5753142 single base substitution C T intron_variant MELA-AU 11 5753219 5753219 single base substitution C T intron_variant MELA-AU 11 5753292 5753292 single base substitution C T intron_variant MELA-AU 11 5753310 5753310 single base substitution C T intron_variant MELA-AU 11 5753417 5753417 single base substitution C T intron_variant MELA-AU 11 5753430 5753430 single base substitution C T intron_variant MELA-AU 11 5753437 5753437 single base substitution C T intron_variant MELA-AU 11 5753500 5753500 single base substitution C T intron_variant MELA-AU 11 5753688 5753688 single base substitution G A intron_variant MELA-AU 11 5753731 5753731 single base substitution C T intron_variant MELA-AU 11 5753797 5753797 single base substitution C T intron_variant MELA-AU 11 5753826 5753826 single base substitution C T intron_variant MELA-AU 11 5753914 5753914 single base substitution A C intron_variant MELA-AU 11 5753932 5753932 single base substitution A G intron_variant MELA-AU 11 5754003 5754003 single base substitution C T intron_variant MELA-AU 11 5754015 5754015 single base substitution G A intron_variant MELA-AU 11 5754028 5754028 single base substitution C T intron_variant MELA-AU 11 5754616 5754616 single base substitution C T intron_variant MELA-AU 11 5754633 5754633 single base substitution C T intron_variant MELA-AU 11 5754731 5754731 single base substitution T C intron_variant MELA-AU 11 5754875 5754875 single base substitution C T intron_variant MELA-AU 11 5754879 5754879 single base substitution T G intron_variant MELA-AU 11 5755166 5755166 single base substitution G A intron_variant MELA-AU 11 5755432 5755432 single base substitution G A 3_prime_UTR_variant MELA-AU 11 5755506 5755506 single base substitution C T intron_variant MELA-AU 11 5755560 5755560 single base substitution A G intron_variant MELA-AU 11 5755616 5755616 single base substitution C T intron_variant MELA-AU 11 5755714 5755714 single base substitution C T intron_variant MELA-AU 11 5755753 5755753 single base substitution C T intron_variant MELA-AU 11 5755984 5755984 single base substitution C T intron_variant MELA-AU 11 5756029 5756029 single base substitution C T intron_variant MELA-AU 11 5756032 5756032 single base substitution C T intron_variant MELA-AU 11 5756101 5756101 single base substitution C T intron_variant MELA-AU 11 5756414 5756414 single base substitution C T intron_variant MELA-AU 11 5756524 5756524 single base substitution G A intron_variant MELA-AU 11 5756542 5756542 single base substitution G A intron_variant MELA-AU 11 5756666 5756666 single base substitution C T intron_variant MELA-AU 11 5757048 5757048 single base substitution C T intron_variant MELA-AU 11 5757205 5757205 single base substitution C T intron_variant MELA-AU 11 5757511 5757511 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5757645 5757645 single base substitution G A 3_prime_UTR_variant MELA-AU 11 5757651 5757651 single base substitution A T 3_prime_UTR_variant MELA-AU 11 5757692 5757692 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5757736 5757736 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5757767 5757767 single base substitution T C 3_prime_UTR_variant MELA-AU 11 5757774 5757774 single base substitution A T 3_prime_UTR_variant MELA-AU 11 5757813 5757813 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5757825 5757825 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5757960 5757960 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5758016 5758016 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5758025 5758025 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5758164 5758164 single base substitution C T 3_prime_UTR_variant MELA-AU 11 5758233 5758233 single base substitution T C 3_prime_UTR_variant MELA-AU 11 5758290 5758290 single base substitution G A 3_prime_UTR_variant MELA-AU 11 5758352 5758352 single base substitution G A downstream_gene_variant MELA-AU 11 5758396 5758396 single base substitution G A downstream_gene_variant MELA-AU 11 5758676 5758676 single base substitution C T downstream_gene_variant MELA-AU 11 5758787 5758787 single base substitution G A downstream_gene_variant MELA-AU 11 5758875 5758875 single base substitution C T downstream_gene_variant MELA-AU 11 5758989 5758989 single base substitution C T downstream_gene_variant MELA-AU 11 5759067 5759067 single base substitution G A downstream_gene_variant MELA-AU 11 5759279 5759279 single base substitution C T downstream_gene_variant MELA-AU 11 5759407 5759407 single base substitution C T downstream_gene_variant MELA-AU 11 5759417 5759417 single base substitution C T downstream_gene_variant MELA-AU 11 5759521 5759521 single base substitution G A downstream_gene_variant MELA-AU 11 5759674 5759674 single base substitution C T downstream_gene_variant MELA-AU 11 5759778 5759778 single base substitution C T downstream_gene_variant MELA-AU 11 5759779 5759779 single base substitution C T downstream_gene_variant MELA-AU 11 5759798 5759798 single base substitution G A downstream_gene_variant MELA-AU 11 5759958 5759958 single base substitution C T downstream_gene_variant MELA-AU 11 5760001 5760001 single base substitution T G downstream_gene_variant MELA-AU 11 5760353 5760354 multiple base substitution (>=2bp and <=200bp) TC AA downstream_gene_variant MELA-AU 11 5760493 5760493 single base substitution C T downstream_gene_variant MELA-AU 11 5760719 5760719 single base substitution G A downstream_gene_variant MELA-AU 11 5760898 5760898 single base substitution T A downstream_gene_variant MELA-AU 11 5761104 5761104 single base substitution G A downstream_gene_variant MELA-AU 11 5761121 5761121 single base substitution C T downstream_gene_variant MELA-AU 11 5761151 5761151 single base substitution C T downstream_gene_variant MELA-AU 11 5761208 5761208 single base substitution C T downstream_gene_variant MELA-AU 11 5761361 5761362 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 11 5761391 5761391 single base substitution G A downstream_gene_variant MELA-AU 11 5761431 5761431 single base substitution A C downstream_gene_variant MELA-AU 11 5761494 5761494 single base substitution G A downstream_gene_variant MELA-AU 11 5761594 5761594 single base substitution C T downstream_gene_variant MELA-AU 11 5761630 5761630 single base substitution G A downstream_gene_variant MELA-AU 11 5761809 5761809 single base substitution G A downstream_gene_variant MELA-AU 11 5761964 5761964 single base substitution G A downstream_gene_variant MELA-AU 11 5762069 5762069 single base substitution G A downstream_gene_variant MELA-AU 11 5762087 5762087 single base substitution G A downstream_gene_variant MELA-AU 11 5762311 5762311 single base substitution G A downstream_gene_variant MELA-AU 11 5762348 5762348 single base substitution G A downstream_gene_variant MELA-AU 11 5762418 5762418 single base substitution T C downstream_gene_variant MELA-AU 11 5762419 5762419 single base substitution C T downstream_gene_variant MELA-AU 11 5762454 5762454 single base substitution C T downstream_gene_variant MELA-AU 11 5762464 5762464 single base substitution G A downstream_gene_variant MELA-AU 11 5762792 5762792 single base substitution C T downstream_gene_variant MELA-AU 11 5762821 5762821 single base substitution C T downstream_gene_variant MELA-AU 11 5762942 5762942 single base substitution T A downstream_gene_variant MELA-AU 11 5763191 5763191 single base substitution T C downstream_gene_variant MELA-AU 11 5763203 5763203 single base substitution G A downstream_gene_variant ORCA-IN 11 5714679 5714679 single base substitution G A intron_variant ORCA-IN 11 5714679 5714679 single base substitution G A upstream_gene_variant ORCA-IN 11 5729830 5729830 single base substitution T A 3_prime_UTR_variant ORCA-IN 11 5729830 5729830 single base substitution T A exon_variant ORCA-IN 11 5729830 5729830 single base substitution T A missense_variant W268R 802T>A ORCA-IN 11 5729830 5729830 single base substitution T A missense_variant W300R 898T>A ORCA-IN 11 5729830 5729830 single base substitution T A missense_variant W30R 88T>A ORCA-IN 11 5729830 5729830 single base substitution T A missense_variant W50R 148T>A ORCA-IN 11 5730409 5730409 single base substitution G T downstream_gene_variant ORCA-IN 11 5730409 5730409 single base substitution G T exon_variant ORCA-IN 11 5730409 5730409 single base substitution G T intron_variant ORCA-IN 11 5730409 5730409 single base substitution G T missense_variant G343V 1028G>T OV-AU 11 5712063 5712063 single base substitution G C intron_variant OV-AU 11 5712063 5712063 single base substitution G C upstream_gene_variant OV-AU 11 5713800 5713800 single base substitution G T intron_variant OV-AU 11 5713800 5713800 single base substitution G T upstream_gene_variant OV-AU 11 5726920 5726920 single base substitution A T intron_variant OV-AU 11 5726920 5726920 single base substitution A T upstream_gene_variant OV-AU 11 5741717 5741717 single base substitution T C intron_variant OV-AU 11 5744845 5744845 single base substitution T G intron_variant OV-AU 11 5745305 5745305 single base substitution G C intron_variant OV-AU 11 5750809 5750809 single base substitution C T intron_variant OV-AU 11 5754672 5754672 single base substitution C G intron_variant OV-AU 11 5754814 5754814 single base substitution A T intron_variant OV-AU 11 5755998 5755998 single base substitution T C intron_variant OV-AU 11 5756894 5756894 single base substitution C G intron_variant OV-AU 11 5757257 5757257 single base substitution C A 3_prime_UTR_variant PACA-AU 11 5707436 5707436 single base substitution G A upstream_gene_variant PACA-AU 11 5709889 5709889 single base substitution C T upstream_gene_variant PACA-AU 11 5710934 5710934 single base substitution T C 5_prime_UTR_variant PACA-AU 11 5710934 5710934 single base substitution T C splice_region_variant PACA-AU 11 5710934 5710934 single base substitution T C upstream_gene_variant PACA-AU 11 5713121 5713121 single base substitution T C intron_variant PACA-AU 11 5713121 5713121 single base substitution T C upstream_gene_variant PACA-AU 11 5714040 5714040 single base substitution G A intron_variant PACA-AU 11 5714040 5714040 single base substitution G A upstream_gene_variant PACA-AU 11 5714238 5714238 single base substitution G A intron_variant PACA-AU 11 5714238 5714238 single base substitution G A upstream_gene_variant PACA-AU 11 5717310 5717312 deletion of <=200bp TAA - intron_variant PACA-AU 11 5717310 5717312 deletion of <=200bp TAA - upstream_gene_variant PACA-AU 11 5719559 5719559 single base substitution C T downstream_gene_variant PACA-AU 11 5719559 5719559 single base substitution C T exon_variant PACA-AU 11 5719559 5719559 single base substitution C T synonymous_variant I146I 438C>T PACA-AU 11 5719559 5719559 single base substitution C T synonymous_variant I178I 534C>T PACA-AU 11 5720050 5720050 single base substitution T C downstream_gene_variant PACA-AU 11 5720050 5720050 single base substitution T C intron_variant PACA-AU 11 5722965 5722965 single base substitution A G downstream_gene_variant PACA-AU 11 5722965 5722965 single base substitution A G intron_variant PACA-AU 11 5722965 5722965 single base substitution A G upstream_gene_variant PACA-AU 11 5730361 5730361 single base substitution G A 3_prime_UTR_variant PACA-AU 11 5730361 5730361 single base substitution G A exon_variant PACA-AU 11 5730361 5730361 single base substitution G A intron_variant PACA-AU 11 5730361 5730361 single base substitution G A missense_variant R295H 884G>A PACA-AU 11 5730361 5730361 single base substitution G A missense_variant R327H 980G>A PACA-AU 11 5731401 5731401 single base substitution G A 3_prime_UTR_variant PACA-AU 11 5731401 5731401 single base substitution G A downstream_gene_variant PACA-AU 11 5731401 5731401 single base substitution G A intron_variant PACA-AU 11 5733634 5733634 single base substitution C A downstream_gene_variant PACA-AU 11 5733634 5733634 single base substitution C A intron_variant PACA-AU 11 5734916 5734916 single base substitution C A downstream_gene_variant PACA-AU 11 5734916 5734916 single base substitution C A intron_variant PACA-AU 11 5735598 5735598 single base substitution C A downstream_gene_variant PACA-AU 11 5735598 5735598 single base substitution C A intron_variant PACA-AU 11 5738760 5738760 single base substitution C A downstream_gene_variant PACA-AU 11 5738760 5738760 single base substitution C A intron_variant PACA-AU 11 5741534 5741534 single base substitution G A intron_variant PACA-AU 11 5742433 5742433 single base substitution C T intron_variant PACA-AU 11 5744614 5744614 single base substitution C A intron_variant PACA-AU 11 5745942 5745942 single base substitution G A intron_variant PACA-AU 11 5746078 5746078 single base substitution C T intron_variant PACA-AU 11 5750973 5750973 single base substitution C T intron_variant PACA-AU 11 5751261 5751261 single base substitution C T intron_variant PACA-AU 11 5751713 5751713 single base substitution G A intron_variant PACA-AU 11 5752526 5752526 single base substitution C T intron_variant PACA-AU 11 5752762 5752762 single base substitution G A intron_variant PACA-AU 11 5753010 5753010 single base substitution T C intron_variant PACA-AU 11 5756614 5756614 single base substitution T G intron_variant PACA-AU 11 5758619 5758619 deletion of <=200bp C - downstream_gene_variant PACA-CA 11 5711651 5711651 single base substitution C G intron_variant PACA-CA 11 5711651 5711651 single base substitution C G upstream_gene_variant PACA-CA 11 5717224 5717224 single base substitution A C intron_variant PACA-CA 11 5717224 5717224 single base substitution A C upstream_gene_variant PACA-CA 11 5718402 5718402 single base substitution A G downstream_gene_variant PACA-CA 11 5718402 5718402 single base substitution A G intron_variant PACA-CA 11 5722657 5722657 single base substitution A G downstream_gene_variant PACA-CA 11 5722657 5722657 single base substitution A G intron_variant PACA-CA 11 5722888 5722888 single base substitution A G downstream_gene_variant PACA-CA 11 5722888 5722888 single base substitution A G intron_variant PACA-CA 11 5722888 5722888 single base substitution A G upstream_gene_variant PACA-CA 11 5724036 5724036 single base substitution C T downstream_gene_variant PACA-CA 11 5724036 5724036 single base substitution C T intron_variant PACA-CA 11 5724036 5724036 single base substitution C T upstream_gene_variant PACA-CA 11 5725610 5725610 single base substitution T G intron_variant PACA-CA 11 5725610 5725610 single base substitution T G upstream_gene_variant PACA-CA 11 5727914 5727914 single base substitution C T intron_variant PACA-CA 11 5727914 5727914 single base substitution C T upstream_gene_variant PACA-CA 11 5728997 5728997 single base substitution G A intron_variant PACA-CA 11 5728997 5728997 single base substitution G A upstream_gene_variant PACA-CA 11 5731489 5731489 single base substitution A G 3_prime_UTR_variant PACA-CA 11 5731489 5731489 single base substitution A G downstream_gene_variant PACA-CA 11 5731489 5731489 single base substitution A G intron_variant PACA-CA 11 5734044 5734045 deletion of <=200bp TT - downstream_gene_variant PACA-CA 11 5734044 5734045 deletion of <=200bp TT - intron_variant PACA-CA 11 5738654 5738654 single base substitution G T downstream_gene_variant PACA-CA 11 5738654 5738654 single base substitution G T intron_variant PACA-CA 11 5740899 5740899 single base substitution C T downstream_gene_variant PACA-CA 11 5740899 5740899 single base substitution C T intron_variant PACA-CA 11 5741233 5741233 single base substitution G T downstream_gene_variant PACA-CA 11 5741233 5741233 single base substitution G T intron_variant PACA-CA 11 5741631 5741631 single base substitution G A intron_variant PACA-CA 11 5742815 5742815 single base substitution A G intron_variant PACA-CA 11 5743182 5743182 deletion of <=200bp C - intron_variant PACA-CA 11 5743285 5743285 single base substitution G T intron_variant PACA-CA 11 5746374 5746374 single base substitution A T intron_variant PACA-CA 11 5747289 5747289 single base substitution C T intron_variant PACA-CA 11 5747845 5747845 single base substitution C T intron_variant PACA-CA 11 5750282 5750282 single base substitution C A intron_variant PACA-CA 11 5752176 5752176 single base substitution A T intron_variant PACA-CA 11 5752280 5752280 single base substitution C A intron_variant PACA-CA 11 5752978 5752978 single base substitution A C intron_variant PACA-CA 11 5753028 5753028 single base substitution T G intron_variant PACA-CA 11 5753292 5753292 single base substitution C T intron_variant PACA-CA 11 5755719 5755719 single base substitution G T intron_variant PACA-CA 11 5757219 5757219 single base substitution T G intron_variant PACA-CA 11 5757388 5757388 single base substitution C T 3_prime_UTR_variant PACA-CA 11 5759759 5759759 single base substitution C A downstream_gene_variant PACA-CA 11 5761057 5761057 single base substitution A T downstream_gene_variant PACA-CA 11 5761268 5761268 single base substitution C A downstream_gene_variant PACA-CA 11 5762577 5762577 single base substitution T A downstream_gene_variant PACA-CA 11 5763224 5763224 single base substitution C T downstream_gene_variant PAEN-AU 11 5744982 5744982 single base substitution G C intron_variant PAEN-AU 11 5751531 5751531 single base substitution C T intron_variant PAEN-IT 11 5751463 5751463 single base substitution C T intron_variant PBCA-DE 11 5721130 5721130 insertion of <=200bp - T downstream_gene_variant PBCA-DE 11 5721130 5721130 insertion of <=200bp - T intron_variant PBCA-DE 11 5721896 5721896 single base substitution G A downstream_gene_variant PBCA-DE 11 5721896 5721896 single base substitution G A intron_variant PBCA-DE 11 5722017 5722017 single base substitution C T downstream_gene_variant PBCA-DE 11 5722017 5722017 single base substitution C T intron_variant PBCA-DE 11 5722288 5722288 single base substitution C T downstream_gene_variant PBCA-DE 11 5722288 5722288 single base substitution C T intron_variant PBCA-DE 11 5727027 5727027 single base substitution G T intron_variant PBCA-DE 11 5727027 5727027 single base substitution G T upstream_gene_variant PBCA-DE 11 5735341 5735341 single base substitution T G downstream_gene_variant PBCA-DE 11 5735341 5735341 single base substitution T G intron_variant PBCA-DE 11 5736324 5736324 single base substitution T C downstream_gene_variant PBCA-DE 11 5736324 5736324 single base substitution T C intron_variant PBCA-DE 11 5739658 5739658 single base substitution G T downstream_gene_variant PBCA-DE 11 5739658 5739658 single base substitution G T intron_variant PBCA-DE 11 5747576 5747576 single base substitution C T intron_variant PBCA-DE 11 5752842 5752842 single base substitution A T intron_variant PBCA-DE 11 5755784 5755784 insertion of <=200bp - A intron_variant PBCA-DE 11 5760231 5760231 single base substitution C G downstream_gene_variant PBCA-DE 11 5762957 5762957 single base substitution A G downstream_gene_variant PRAD-CA 11 5707363 5707363 single base substitution C T upstream_gene_variant PRAD-CA 11 5714122 5714122 single base substitution C T intron_variant PRAD-CA 11 5714122 5714122 single base substitution C T upstream_gene_variant PRAD-CA 11 5750441 5750441 single base substitution C T intron_variant PRAD-UK 11 5727245 5727245 single base substitution A C intron_variant PRAD-UK 11 5727245 5727245 single base substitution A C upstream_gene_variant PRAD-UK 11 5730628 5730628 single base substitution G A downstream_gene_variant PRAD-UK 11 5730628 5730628 single base substitution G A exon_variant PRAD-UK 11 5730628 5730628 single base substitution G A intron_variant PRAD-UK 11 5730628 5730628 single base substitution G A missense_variant C416Y 1247G>A PRAD-UK 11 5731582 5731582 single base substitution C A 3_prime_UTR_variant PRAD-UK 11 5731582 5731582 single base substitution C A downstream_gene_variant PRAD-UK 11 5731582 5731582 single base substitution C A intron_variant PRAD-UK 11 5740972 5740972 insertion of <=200bp - G downstream_gene_variant PRAD-UK 11 5740972 5740972 insertion of <=200bp - G intron_variant PRAD-UK 11 5742974 5742976 deletion of <=200bp AGT - intron_variant PRAD-UK 11 5756829 5756829 single base substitution T C intron_variant PRAD-UK 11 5756912 5756912 single base substitution A T intron_variant PRAD-UK 11 5760892 5760892 single base substitution G T downstream_gene_variant PRAD-UK 11 5762282 5762282 single base substitution G A downstream_gene_variant PRAD-US 11 5730757 5730757 single base substitution T G downstream_gene_variant PRAD-US 11 5730757 5730757 single base substitution T G intron_variant PRAD-US 11 5730757 5730757 single base substitution T G missense_variant V459G 1376T>G PRAD-US 11 5758619 5758619 deletion of <=200bp C - downstream_gene_variant READ-US 11 5730416 5730416 single base substitution C T downstream_gene_variant READ-US 11 5730416 5730416 single base substitution C T exon_variant READ-US 11 5730416 5730416 single base substitution C T intron_variant READ-US 11 5730416 5730416 single base substitution C T synonymous_variant F345F 1035C>T RECA-EU 11 5709005 5709005 single base substitution C A upstream_gene_variant RECA-EU 11 5714133 5714133 single base substitution G T intron_variant RECA-EU 11 5714133 5714133 single base substitution G T upstream_gene_variant RECA-EU 11 5714698 5714698 single base substitution C G intron_variant RECA-EU 11 5714698 5714698 single base substitution C G upstream_gene_variant RECA-EU 11 5718789 5718789 single base substitution G T downstream_gene_variant RECA-EU 11 5718789 5718789 single base substitution G T exon_variant RECA-EU 11 5718789 5718789 single base substitution G T intron_variant RECA-EU 11 5736489 5736489 single base substitution A T downstream_gene_variant RECA-EU 11 5736489 5736489 single base substitution A T intron_variant RECA-EU 11 5742556 5742556 single base substitution G C intron_variant RECA-EU 11 5750349 5750349 single base substitution T C intron_variant RECA-EU 11 5753731 5753731 single base substitution C G intron_variant RECA-EU 11 5758694 5758694 single base substitution T A downstream_gene_variant SKCA-BR 11 5706657 5706657 single base substitution G A upstream_gene_variant SKCA-BR 11 5709074 5709074 single base substitution G A upstream_gene_variant SKCA-BR 11 5712505 5712505 single base substitution C G intron_variant SKCA-BR 11 5713328 5713328 single base substitution G A intron_variant SKCA-BR 11 5713328 5713328 single base substitution G A upstream_gene_variant SKCA-BR 11 5713628 5713628 single base substitution G A intron_variant SKCA-BR 11 5713628 5713628 single base substitution G A upstream_gene_variant SKCA-BR 11 5714038 5714038 insertion of <=200bp - AT intron_variant SKCA-BR 11 5714038 5714038 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 11 5714409 5714409 single base substitution G A intron_variant SKCA-BR 11 5714409 5714409 single base substitution G A upstream_gene_variant SKCA-BR 11 5714419 5714421 deletion of <=200bp CTT - intron_variant SKCA-BR 11 5714419 5714421 deletion of <=200bp CTT - upstream_gene_variant SKCA-BR 11 5714792 5714792 single base substitution G A intron_variant SKCA-BR 11 5714792 5714792 single base substitution G A upstream_gene_variant SKCA-BR 11 5714965 5714965 single base substitution A G intron_variant SKCA-BR 11 5714965 5714965 single base substitution A G upstream_gene_variant SKCA-BR 11 5715282 5715282 single base substitution C T intron_variant SKCA-BR 11 5715282 5715282 single base substitution C T upstream_gene_variant SKCA-BR 11 5716144 5716144 single base substitution C T intron_variant SKCA-BR 11 5716144 5716144 single base substitution C T upstream_gene_variant SKCA-BR 11 5718193 5718193 single base substitution G A exon_variant SKCA-BR 11 5718193 5718193 single base substitution G A intron_variant SKCA-BR 11 5718455 5718455 single base substitution C T downstream_gene_variant SKCA-BR 11 5718455 5718455 single base substitution C T intron_variant SKCA-BR 11 5718486 5718486 single base substitution G A downstream_gene_variant SKCA-BR 11 5718486 5718486 single base substitution G A exon_variant SKCA-BR 11 5718486 5718486 single base substitution G A intron_variant SKCA-BR 11 5718486 5718486 single base substitution G A synonymous_variant L144L 432G>A SKCA-BR 11 5719134 5719134 single base substitution C T downstream_gene_variant SKCA-BR 11 5719134 5719134 single base substitution C T exon_variant SKCA-BR 11 5719134 5719134 single base substitution C T intron_variant SKCA-BR 11 5719790 5719790 single base substitution G A downstream_gene_variant SKCA-BR 11 5719790 5719790 single base substitution G A intron_variant SKCA-BR 11 5721480 5721480 single base substitution G A downstream_gene_variant SKCA-BR 11 5721480 5721480 single base substitution G A intron_variant SKCA-BR 11 5722225 5722225 single base substitution G A downstream_gene_variant SKCA-BR 11 5722225 5722225 single base substitution G A intron_variant SKCA-BR 11 5723742 5723742 single base substitution G A downstream_gene_variant SKCA-BR 11 5723742 5723742 single base substitution G A intron_variant SKCA-BR 11 5723742 5723742 single base substitution G A upstream_gene_variant SKCA-BR 11 5724677 5724677 single base substitution G A downstream_gene_variant SKCA-BR 11 5724677 5724677 single base substitution G A intron_variant SKCA-BR 11 5724677 5724677 single base substitution G A upstream_gene_variant SKCA-BR 11 5724694 5724694 single base substitution C T downstream_gene_variant SKCA-BR 11 5724694 5724694 single base substitution C T intron_variant SKCA-BR 11 5724694 5724694 single base substitution C T upstream_gene_variant SKCA-BR 11 5725385 5725385 single base substitution G A intron_variant SKCA-BR 11 5725385 5725385 single base substitution G A upstream_gene_variant SKCA-BR 11 5729182 5729182 single base substitution C T intron_variant SKCA-BR 11 5729182 5729182 single base substitution C T upstream_gene_variant SKCA-BR 11 5729463 5729463 single base substitution C T 3_prime_UTR_variant SKCA-BR 11 5729463 5729463 single base substitution C T exon_variant SKCA-BR 11 5729463 5729463 single base substitution C T synonymous_variant F246F 738C>T SKCA-BR 11 5729463 5729463 single base substitution C T synonymous_variant F278F 834C>T SKCA-BR 11 5729463 5729463 single base substitution C T synonymous_variant F28F 84C>T SKCA-BR 11 5729463 5729463 single base substitution C T synonymous_variant F8F 24C>T SKCA-BR 11 5729980 5729980 single base substitution A T intron_variant SKCA-BR 11 5733845 5733845 single base substitution G A downstream_gene_variant SKCA-BR 11 5733845 5733845 single base substitution G A intron_variant SKCA-BR 11 5733963 5733963 single base substitution G A downstream_gene_variant SKCA-BR 11 5733963 5733963 single base substitution G A intron_variant SKCA-BR 11 5735431 5735431 single base substitution T A downstream_gene_variant SKCA-BR 11 5735431 5735431 single base substitution T A intron_variant SKCA-BR 11 5735486 5735486 single base substitution C T downstream_gene_variant SKCA-BR 11 5735486 5735486 single base substitution C T intron_variant SKCA-BR 11 5735802 5735802 single base substitution C T downstream_gene_variant SKCA-BR 11 5735802 5735802 single base substitution C T intron_variant SKCA-BR 11 5736345 5736345 single base substitution C T downstream_gene_variant SKCA-BR 11 5736345 5736345 single base substitution C T intron_variant SKCA-BR 11 5737098 5737098 single base substitution C T downstream_gene_variant SKCA-BR 11 5737098 5737098 single base substitution C T intron_variant SKCA-BR 11 5737785 5737785 single base substitution G A downstream_gene_variant SKCA-BR 11 5737785 5737785 single base substitution G A intron_variant SKCA-BR 11 5737912 5737912 single base substitution G A downstream_gene_variant SKCA-BR 11 5737912 5737912 single base substitution G A intron_variant SKCA-BR 11 5739906 5739906 single base substitution T C downstream_gene_variant SKCA-BR 11 5739906 5739906 single base substitution T C intron_variant SKCA-BR 11 5740505 5740505 single base substitution C T downstream_gene_variant SKCA-BR 11 5740505 5740505 single base substitution C T intron_variant SKCA-BR 11 5741920 5741920 insertion of <=200bp - GGT intron_variant SKCA-BR 11 5742141 5742141 single base substitution G A intron_variant SKCA-BR 11 5743205 5743205 single base substitution A C intron_variant SKCA-BR 11 5744207 5744207 single base substitution G A intron_variant SKCA-BR 11 5744338 5744338 single base substitution C T intron_variant SKCA-BR 11 5744567 5744567 single base substitution G A intron_variant SKCA-BR 11 5745984 5745984 single base substitution G A intron_variant SKCA-BR 11 5746388 5746388 single base substitution A G intron_variant SKCA-BR 11 5746445 5746445 single base substitution G A intron_variant SKCA-BR 11 5746580 5746580 single base substitution G A intron_variant SKCA-BR 11 5747107 5747107 single base substitution G T intron_variant SKCA-BR 11 5747777 5747777 single base substitution C T intron_variant SKCA-BR 11 5747888 5747888 single base substitution C T intron_variant SKCA-BR 11 5748305 5748305 insertion of <=200bp - GC intron_variant SKCA-BR 11 5749403 5749403 single base substitution C T intron_variant SKCA-BR 11 5750368 5750368 single base substitution G T intron_variant SKCA-BR 11 5751128 5751128 single base substitution C T intron_variant SKCA-BR 11 5752888 5752888 single base substitution G A intron_variant SKCA-BR 11 5753786 5753786 single base substitution A T intron_variant SKCA-BR 11 5755721 5755721 single base substitution G A intron_variant SKCA-BR 11 5756228 5756228 single base substitution G A intron_variant SKCA-BR 11 5756841 5756841 single base substitution T A intron_variant SKCA-BR 11 5757205 5757205 single base substitution C T intron_variant SKCA-BR 11 5757377 5757377 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 5757730 5757730 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 5759176 5759176 single base substitution G A downstream_gene_variant SKCA-BR 11 5759407 5759407 single base substitution C T downstream_gene_variant SKCA-BR 11 5759767 5759767 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 11 5759833 5759833 single base substitution C T downstream_gene_variant SKCA-BR 11 5759987 5759987 single base substitution C T downstream_gene_variant SKCA-BR 11 5759996 5759997 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 11 5762419 5762419 single base substitution C T downstream_gene_variant SKCA-BR 11 5762854 5762854 single base substitution G A downstream_gene_variant SKCA-BR 11 5763004 5763004 single base substitution C T downstream_gene_variant SKCM-US 11 5717766 5717766 single base substitution A C exon_variant SKCM-US 11 5717766 5717766 single base substitution A C missense_variant K102Q 304A>C SKCM-US 11 5718514 5718514 single base substitution G A downstream_gene_variant SKCM-US 11 5718514 5718514 single base substitution G A exon_variant SKCM-US 11 5718514 5718514 single base substitution G A intron_variant SKCM-US 11 5718514 5718514 single base substitution G A missense_variant E154K 460G>A SKCM-US 11 5719637 5719637 single base substitution G A downstream_gene_variant SKCM-US 11 5719637 5719637 single base substitution G A exon_variant SKCM-US 11 5719637 5719637 single base substitution G A synonymous_variant K172K 516G>A SKCM-US 11 5719637 5719637 single base substitution G A synonymous_variant K204K 612G>A SKCM-US 11 5719671 5719671 single base substitution C T downstream_gene_variant SKCM-US 11 5719671 5719671 single base substitution C T exon_variant SKCM-US 11 5719671 5719671 single base substitution C T intron_variant SKCM-US 11 5719671 5719671 single base substitution C T synonymous_variant L184L 550C>T SKCM-US 11 5719671 5719671 single base substitution C T synonymous_variant L216L 646C>T SKCM-US 11 5719768 5719768 single base substitution T C downstream_gene_variant SKCM-US 11 5719768 5719768 single base substitution T C exon_variant SKCM-US 11 5719768 5719768 single base substitution T C missense_variant M216T 647T>C SKCM-US 11 5719768 5719768 single base substitution T C missense_variant M248T 743T>C SKCM-US 11 5729476 5729476 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5729476 5729476 single base substitution C T exon_variant SKCM-US 11 5729476 5729476 single base substitution C T synonymous_variant L13L 37C>T SKCM-US 11 5729476 5729476 single base substitution C T synonymous_variant L251L 751C>T SKCM-US 11 5729476 5729476 single base substitution C T synonymous_variant L283L 847C>T SKCM-US 11 5729476 5729476 single base substitution C T synonymous_variant L33L 97C>T SKCM-US 11 5730298 5730298 single base substitution A G 3_prime_UTR_variant SKCM-US 11 5730298 5730298 single base substitution A G exon_variant SKCM-US 11 5730298 5730298 single base substitution A G intron_variant SKCM-US 11 5730298 5730298 single base substitution A G missense_variant N274S 821A>G SKCM-US 11 5730298 5730298 single base substitution A G missense_variant N306S 917A>G SKCM-US 11 5730316 5730316 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5730316 5730316 single base substitution C T exon_variant SKCM-US 11 5730316 5730316 single base substitution C T intron_variant SKCM-US 11 5730316 5730316 single base substitution C T missense_variant S280L 839C>T SKCM-US 11 5730316 5730316 single base substitution C T missense_variant S312L 935C>T SKCM-US 11 5730400 5730400 single base substitution C T downstream_gene_variant SKCM-US 11 5730400 5730400 single base substitution C T exon_variant SKCM-US 11 5730400 5730400 single base substitution C T intron_variant SKCM-US 11 5730400 5730400 single base substitution C T missense_variant S340F 1019C>T SKCM-US 11 5730469 5730469 single base substitution G A downstream_gene_variant SKCM-US 11 5730469 5730469 single base substitution G A exon_variant SKCM-US 11 5730469 5730469 single base substitution G A intron_variant SKCM-US 11 5730469 5730469 single base substitution G A missense_variant G363E 1088G>A SKCM-US 11 5730610 5730610 single base substitution T C downstream_gene_variant SKCM-US 11 5730610 5730610 single base substitution T C exon_variant SKCM-US 11 5730610 5730610 single base substitution T C intron_variant SKCM-US 11 5730610 5730610 single base substitution T C missense_variant I410T 1229T>C SKCM-US 11 5730793 5730793 single base substitution G A downstream_gene_variant SKCM-US 11 5730793 5730793 single base substitution G A intron_variant SKCM-US 11 5730793 5730793 single base substitution G A missense_variant G471E 1412G>A SKCM-US 11 5730807 5730807 single base substitution C T downstream_gene_variant SKCM-US 11 5730807 5730807 single base substitution C T intron_variant SKCM-US 11 5730807 5730807 single base substitution C T stop_gained R476* 1426C>T SKCM-US 11 5730827 5730827 single base substitution C T downstream_gene_variant SKCM-US 11 5730827 5730827 single base substitution C T intron_variant SKCM-US 11 5730827 5730827 single base substitution C T synonymous_variant F482F 1446C>T SKCM-US 11 5730836 5730836 single base substitution G A downstream_gene_variant SKCM-US 11 5730836 5730836 single base substitution G A intron_variant SKCM-US 11 5730836 5730836 single base substitution G A stop_gained W485* 1455G>A SKCM-US 11 5757749 5757749 single base substitution G A 3_prime_UTR_variant SKCM-US 11 5757774 5757774 single base substitution A T 3_prime_UTR_variant SKCM-US 11 5757809 5757809 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5757934 5757934 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5757959 5757959 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5758004 5758004 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5758008 5758008 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5758025 5758025 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5758091 5758091 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5758155 5758155 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5758164 5758164 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5758189 5758189 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5758199 5758199 single base substitution A G 3_prime_UTR_variant SKCM-US 11 5758241 5758241 single base substitution C T 3_prime_UTR_variant SKCM-US 11 5758290 5758290 single base substitution G A 3_prime_UTR_variant SKCM-US 11 5758341 5758341 single base substitution G A downstream_gene_variant SKCM-US 11 5758396 5758396 single base substitution G A downstream_gene_variant SKCM-US 11 5758401 5758401 single base substitution G A downstream_gene_variant SKCM-US 11 5758501 5758501 single base substitution C T downstream_gene_variant SKCM-US 11 5758510 5758510 single base substitution C T downstream_gene_variant SKCM-US 11 5758549 5758549 single base substitution C T downstream_gene_variant SKCM-US 11 5758566 5758566 single base substitution G A downstream_gene_variant SKCM-US 11 5758568 5758568 single base substitution G A downstream_gene_variant SKCM-US 11 5758583 5758583 single base substitution G A downstream_gene_variant SKCM-US 11 5758616 5758616 single base substitution C T downstream_gene_variant SKCM-US 11 5758698 5758698 single base substitution C T downstream_gene_variant STAD-US 11 5717765 5717765 deletion of <=200bp A - exon_variant STAD-US 11 5717765 5717765 deletion of <=200bp A - frameshift_variant G101 STAD-US 11 5730360 5730360 single base substitution C T 3_prime_UTR_variant STAD-US 11 5730360 5730360 single base substitution C T exon_variant STAD-US 11 5730360 5730360 single base substitution C T intron_variant STAD-US 11 5730360 5730360 single base substitution C T missense_variant R295C 883C>T STAD-US 11 5730360 5730360 single base substitution C T missense_variant R327C 979C>T STAD-US 11 5730393 5730393 single base substitution G T downstream_gene_variant STAD-US 11 5730393 5730393 single base substitution G T exon_variant STAD-US 11 5730393 5730393 single base substitution G T intron_variant STAD-US 11 5730393 5730393 single base substitution G T missense_variant D338Y 1012G>T STAD-US 11 5730393 5730393 single base substitution G T synonymous_variant ?306 STAD-US 11 5730455 5730455 single base substitution A C downstream_gene_variant STAD-US 11 5730455 5730455 single base substitution A C exon_variant STAD-US 11 5730455 5730455 single base substitution A C intron_variant STAD-US 11 5730455 5730455 single base substitution A C missense_variant E358D 1074A>C STAD-US 11 5730579 5730579 single base substitution A T downstream_gene_variant STAD-US 11 5730579 5730579 single base substitution A T exon_variant STAD-US 11 5730579 5730579 single base substitution A T intron_variant STAD-US 11 5730579 5730579 single base substitution A T stop_gained R400* 1198A>T STAD-US 11 5757774 5757774 single base substitution A G 3_prime_UTR_variant STAD-US 11 5757906 5757906 single base substitution A T 3_prime_UTR_variant STAD-US 11 5758135 5758136 deletion of <=200bp AT - 3_prime_UTR_variant STAD-US 11 5758141 5758141 single base substitution A T 3_prime_UTR_variant STAD-US 11 5758490 5758490 single base substitution C A downstream_gene_variant STAD-US 11 5758600 5758600 single base substitution A C downstream_gene_variant STAD-US 11 5758619 5758619 insertion of <=200bp - C downstream_gene_variant STAD-US 11 5758675 5758675 single base substitution C T downstream_gene_variant UCEC-US 11 5717532 5717532 single base substitution G T exon_variant UCEC-US 11 5717532 5717532 single base substitution G T stop_gained E24* 70G>T UCEC-US 11 5717532 5717532 single base substitution G T upstream_gene_variant UCEC-US 11 5717567 5717567 single base substitution C T exon_variant UCEC-US 11 5717567 5717567 single base substitution C T synonymous_variant C35C 105C>T UCEC-US 11 5717567 5717567 single base substitution C T upstream_gene_variant UCEC-US 11 5717810 5717810 single base substitution C A exon_variant UCEC-US 11 5717810 5717810 single base substitution C A stop_gained C116* 348C>A UCEC-US 11 5717857 5717857 single base substitution G A exon_variant UCEC-US 11 5717857 5717857 single base substitution G A missense_variant R132H 395G>A UCEC-US 11 5717876 5717876 single base substitution G T exon_variant UCEC-US 11 5717876 5717876 single base substitution G T missense_variant K138N 414G>T UCEC-US 11 5719582 5719582 single base substitution G A downstream_gene_variant UCEC-US 11 5719582 5719582 single base substitution G A exon_variant UCEC-US 11 5719582 5719582 single base substitution G A missense_variant G154E 461G>A UCEC-US 11 5719582 5719582 single base substitution G A missense_variant G186E 557G>A UCEC-US 11 5719604 5719604 single base substitution C A downstream_gene_variant UCEC-US 11 5719604 5719604 single base substitution C A exon_variant UCEC-US 11 5719604 5719604 single base substitution C A synonymous_variant I161I 483C>A UCEC-US 11 5719604 5719604 single base substitution C A synonymous_variant I193I 579C>A UCEC-US 11 5729464 5729464 single base substitution C T 3_prime_UTR_variant UCEC-US 11 5729464 5729464 single base substitution C T exon_variant UCEC-US 11 5729464 5729464 single base substitution C T stop_gained R247* 739C>T UCEC-US 11 5729464 5729464 single base substitution C T stop_gained R279* 835C>T UCEC-US 11 5729464 5729464 single base substitution C T stop_gained R29* 85C>T UCEC-US 11 5729464 5729464 single base substitution C T stop_gained R9* 25C>T UCEC-US 11 5730316 5730316 single base substitution C T 3_prime_UTR_variant UCEC-US 11 5730316 5730316 single base substitution C T exon_variant UCEC-US 11 5730316 5730316 single base substitution C T intron_variant UCEC-US 11 5730316 5730316 single base substitution C T missense_variant S280L 839C>T UCEC-US 11 5730316 5730316 single base substitution C T missense_variant S312L 935C>T UCEC-US 11 5730377 5730377 single base substitution G T downstream_gene_variant UCEC-US 11 5730377 5730377 single base substitution G T exon_variant UCEC-US 11 5730377 5730377 single base substitution G T intron_variant UCEC-US 11 5730377 5730377 single base substitution G T missense_variant K300N 900G>T UCEC-US 11 5730377 5730377 single base substitution G T missense_variant K332N 996G>T UCEC-US 11 5730402 5730402 single base substitution G A downstream_gene_variant UCEC-US 11 5730402 5730402 single base substitution G A exon_variant UCEC-US 11 5730402 5730402 single base substitution G A intron_variant UCEC-US 11 5730402 5730402 single base substitution G A missense_variant A341T 1021G>A UCEC-US 11 5730452 5730452 single base substitution G A downstream_gene_variant UCEC-US 11 5730452 5730452 single base substitution G A exon_variant UCEC-US 11 5730452 5730452 single base substitution G A intron_variant UCEC-US 11 5730452 5730452 single base substitution G A stop_gained W357* 1071G>A UCEC-US 11 5730491 5730491 single base substitution C T downstream_gene_variant UCEC-US 11 5730491 5730491 single base substitution C T exon_variant UCEC-US 11 5730491 5730491 single base substitution C T intron_variant UCEC-US 11 5730491 5730491 single base substitution C T synonymous_variant G370G 1110C>T UCEC-US 11 5730528 5730528 single base substitution A C downstream_gene_variant UCEC-US 11 5730528 5730528 single base substitution A C exon_variant UCEC-US 11 5730528 5730528 single base substitution A C intron_variant UCEC-US 11 5730528 5730528 single base substitution A C missense_variant S383R 1147A>C UCEC-US 11 5730750 5730750 single base substitution T G downstream_gene_variant UCEC-US 11 5730750 5730750 single base substitution T G intron_variant UCEC-US 11 5730750 5730750 single base substitution T G missense_variant F457V 1369T>G UCEC-US 11 5730767 5730767 single base substitution C T downstream_gene_variant UCEC-US 11 5730767 5730767 single base substitution C T intron_variant UCEC-US 11 5730767 5730767 single base substitution C T synonymous_variant H462H 1386C>T UCEC-US 11 5730788 5730788 single base substitution C A downstream_gene_variant UCEC-US 11 5730788 5730788 single base substitution C A intron_variant UCEC-US 11 5730788 5730788 single base substitution C A missense_variant F469L 1407C>A UCEC-US 11 5757862 5757862 single base substitution C A 3_prime_UTR_variant UCEC-US 11 5758225 5758225 single base substitution G T 3_prime_UTR_variant UCEC-US 11 5758345 5758345 single base substitution A G downstream_gene_variant UCEC-US 11 5758568 5758568 single base substitution G T downstream_gene_variant UCEC-US 11 5758671 5758671 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand STC252 COSM5050904 c.121G>A p.A41T Substitution - Missense 11:5696353-5696353 + 855_PT COSM5753721 c.1325G>A p.R442H Substitution - Missense 11:5709476-5709476 + TCGA-AP-A051-01 COSM928633 c.1147A>C p.S383R Substitution - Missense 11:5709298-5709298 + 1238_T COSM3953425 c.862C>T p.Q288* Substitution - Nonsense 11:5708261-5708261 + TCGA-AM-5821-01 COSM147127 c.725G>C p.R242T Substitution - Missense 11:5698520-5698520 + CRC-19T COSM5480888 c.185G>A p.R62K Substitution - Missense 11:5696417-5696417 + TCGA-GN-A265-06 COSM3449717 c.917A>G p.N306S Substitution - Missense 11:5709068-5709068 + TCGA-BC-A10W-01 COSM4937350 c.1355G>A p.G452D Substitution - Missense 11:5709506-5709506 + TCGA-EB-A41A-01 COSM3449720 c.1229T>C p.I410T Substitution - Missense 11:5709380-5709380 + TCGA-AP-A056-01 COSM928613 c.557G>A p.G186E Substitution - Missense 11:5698352-5698352 + TCGA-29-1705-01 COSM1321593 c.227_263del37 p.I77fs*45 Deletion - Frameshift 11:5696459-5696495 + 49M COSM5593572 c.424G>A p.E142K Substitution - Missense 11:5697248-5697248 + GC8_T COSM147127 c.725G>C p.R242T Substitution - Missense 11:5698520-5698520 + TCGA-39-5029-01 COSM688393 c.1264G>C p.E422Q Substitution - Missense 11:5709415-5709415 + LUAD-E00918 COSM364976 c.1111G>T p.V371L Substitution - Missense 11:5709262-5709262 + 587342 COSM1230304 c.785G>T p.W262L Substitution - Missense 11:5708184-5708184 + 23T COSM3710185 c.898T>A p.W300R Substitution - Missense 11:5708600-5708600 + YUPAER COSM5372826 c.1371C>T p.F457F Substitution - coding silent 11:5709522-5709522 + SC_9062 COSM5558034 c.1188A>C p.K396N Substitution - Missense 11:5709339-5709339 + PDA_015 COSM147127 c.725G>C p.R242T Substitution - Missense 11:5698520-5698520 + HCT15 COSM4197335 c.335G>A p.G112E Substitution - Missense 11:5696567-5696567 + S01524 COSM5669282 c.608A>G p.Q203R Substitution - Missense 11:5698403-5698403 + ESO-1594 COSM1268517 c.979C>T p.R327C Substitution - Missense 11:5709130-5709130 + CSCC-41-T COSM4465374 c.137C>T p.S46L Substitution - Missense 11:5696369-5696369 + 24 COSM147127 c.725G>C p.R242T Substitution - Missense 11:5698520-5698520 + TCGA-BS-A0UJ-01 COSM928631 c.1071G>A p.W357* Substitution - Nonsense 11:5709222-5709222 + YUOMEGA COSM5372821 c.315G>C p.Q105H Substitution - Missense 11:5696547-5696547 + TCGA-BS-A0UV-01 COSM928614 c.579C>A p.I193I Substitution - coding silent 11:5698374-5698374 + TCGA-G3-A25U-01 COSM4910999 c.519+1G>A p.? Unknown 11:5697344-5697344 + TCGA-BR-4257-01 COSM1268517 c.979C>T p.R327C Substitution - Missense 11:5709130-5709130 + TCGA-AP-A051-01 COSM928636 c.1407C>A p.F469L Substitution - Missense 11:5709558-5709558 + T2769 COSM928635 c.1386C>T p.H462H Substitution - coding silent 11:5709537-5709537 + TCGA-AP-A059-01 COSM928634 c.1369T>G p.F457V Substitution - Missense 11:5709520-5709520 + EV007-R6 COSM4410997 c.1292delT p.L432fs*1 Deletion - Frameshift 11:5709443-5709443 + SNUH_G16_S1 COSM3998480 c.300T>C p.H100H Substitution - coding silent 11:5696532-5696532 + TCGA-AA-A00N-01 COSM277799 c.1417C>T p.R473C Substitution - Missense 11:5709568-5709568 + TCGA-AZ-4315-01 COSM285938 c.1239G>T p.Q413H Substitution - Missense 11:5709390-5709390 + UM-SCC-2 COSM147126 c.694A>G p.T232A Substitution - Missense 11:5698489-5698489 + TCGA-B0-5099-01 COSM466999 c.1482C>T p.C494C Substitution - coding silent 11:5709633-5709633 + T2568 COSM4735974 c.1188A>G p.K396K Substitution - coding silent 11:5709339-5709339 + TCGA-CJ-5679-01 COSM466997 c.758T>C p.I253T Substitution - Missense 11:5706601-5706601 + LUAD-S00486 COSM343194 c.21A>T p.V7V Substitution - coding silent 11:5696253-5696253 + TCGA-AG-A002-01 COSM289797 c.394C>T p.R132C Substitution - Missense 11:5696626-5696626 + TCGA-66-2789-01 COSM688398 c.736G>C p.V246L Substitution - Missense 11:5698531-5698531 + ESO-0067 COSM1268516 c.1143G>C p.R381S Substitution - Missense 11:5709294-5709294 + 49M COSM4197432 c.1165G>A p.D389N Substitution - Missense 11:5709316-5709316 + PT25 COSM5904977 c.268G>A p.E90K Substitution - Missense 11:5696500-5696500 + CSCC-60-T COSM4457572 c.1050C>T p.F350F Substitution - coding silent 11:5709201-5709201 + TCGA-D3-A3BZ-06 COSM3449701 c.304A>C p.K102Q Substitution - Missense 11:5696536-5696536 + TCGA-EE-A29D-06 COSM3449723 c.1455G>A p.W485* Substitution - Nonsense 11:5709606-5709606 + TCGA-BR-8680-01 COSM4034070 c.1012G>T p.D338Y Substitution - Missense 11:5709163-5709163 + SNUH_G26_S1 COSM3998481 c.642T>C p.D214D Substitution - coding silent 11:5698437-5698437 + TCGA-CG-4436-01 COSM4034071 c.1074A>C p.E358D Substitution - Missense 11:5709225-5709225 + T578 COSM928636 c.1407C>A p.F469L Substitution - Missense 11:5709558-5709558 + 1_RESISTANT COSM1720767 c.1332G>A p.G444G Substitution - coding silent 11:5709483-5709483 + LIM2405 COSM1354724 c.303delA p.K103fs*31 Deletion - Frameshift 11:5696535-5696535 + T1204 COSM4735972 c.906C>T p.D302D Substitution - coding silent 11:5709057-5709057 + T1154 COSM4735975 c.1418G>A p.R473H Substitution - Missense 11:5709569-5709569 + C125 COSM4616699 c.1450C>T p.P484S Substitution - Missense 11:5709601-5709601 + TCGA-D1-A17Q-01 COSM928628 c.935C>T p.S312L Substitution - Missense 11:5709086-5709086 + TCGA-BF-A1Q0-01 COSM3449722 c.1426C>T p.R476* Substitution - Nonsense 11:5709577-5709577 + TCGA-CM-4743-01 COSM1354724 c.303delA p.K103fs*31 Deletion - Frameshift 11:5696535-5696535 + TARGET-30-PARNTS COSM1288617 c.607C>A p.Q203K Substitution - Missense 11:5698402-5698402 + CPCG0183-P2 COSM147127 c.725G>C p.R242T Substitution - Missense 11:5698520-5698520 + CSCC-44-T COSM4533512 c.198G>A p.G66G Substitution - coding silent 11:5696430-5696430 + TCGA-B2-4099-01 COSM466998 c.889C>T p.Q297* Substitution - Nonsense 11:5708591-5708591 + TCGA-AP-A0LM-01 COSM928607 c.395G>A p.R132H Substitution - Missense 11:5696627-5696627 + HCC2998 COSM1675781 c.565G>T p.E189* Substitution - Nonsense 11:5698360-5698360 + TCGA-D1-A16X-01 COSM928604 c.105C>T p.C35C Substitution - coding silent 11:5696337-5696337 + T3090 COSM4735973 c.1075G>A p.V359I Substitution - Missense 11:5709226-5709226 + NCI-H460 COSM1675782 c.583G>T p.D195Y Substitution - Missense 11:5698378-5698378 + TCGA-AX-A0J0-01 COSM928632 c.1110C>T p.G370G Substitution - coding silent 11:5709261-5709261 + NCI-H322M COSM1675783 c.1361T>A p.V454D Substitution - Missense 11:5709512-5709512 + TCGA-EW-A1J5-01 COSM1475564 c.495C>T p.I165I Substitution - coding silent 11:5697319-5697319 + TCGA-EV-5902-01 COSM3986257 c.48C>T p.P16P Substitution - coding silent 11:5696280-5696280 + TCGA-AP-A0LM-01 COSM928635 c.1386C>T p.H462H Substitution - coding silent 11:5709537-5709537 + 8044180 COSM3769364 c.980G>A p.R327H Substitution - Missense 11:5709131-5709131 + 587284 COSM1230303 c.1334T>G p.V445G Substitution - Missense 11:5709485-5709485 + HCC2998 COSM1675781 c.565G>T p.E189* Substitution - Nonsense 11:5698360-5698360 + TCGA-EE-A29E-06 COSM3449719 c.1088G>A p.G363E Substitution - Missense 11:5709239-5709239 + PD22358a COSM5783940 c.354T>C p.V118V Substitution - coding silent 11:5696586-5696586 + 115 COSM5012285 c.907G>A p.V303M Substitution - Missense 11:5709058-5709058 + CN-AML-08-T COSM3998480 c.300T>C p.H100H Substitution - coding silent 11:5696532-5696532 + TCGA-AA-3715-01 COSM270390 c.757A>T p.I253F Substitution - Missense 11:5706600-5706600 + TCGA-FW-A3R5-06 COSM3449722 c.1426C>T p.R476* Substitution - Nonsense 11:5709577-5709577 + TCGA-D1-A103-01 COSM928606 c.348C>A p.C116* Substitution - Nonsense 11:5696580-5696580 + PDA_046 COSM5000512 c.376C>A p.Q126K Substitution - Missense 11:5696608-5696608 + TCGA-AX-A0J0-01 COSM928629 c.996G>T p.K332N Substitution - Missense 11:5709147-5709147 + CSCC-44-T COSM4548679 c.453G>A p.L151L Substitution - coding silent 11:5697277-5697277 + 587222 COSM1230302 c.786G>T p.W262C Substitution - Missense 11:5708185-5708185 + OSCC-GB_00230111 COSM3710185 c.898T>A p.W300R Substitution - Missense 11:5708600-5708600 + TCGA-B0-4837-01 COSM3359239 c.205C>T p.R69* Substitution - Nonsense 11:5696437-5696437 + 855_CLM COSM5753721 c.1325G>A p.R442H Substitution - Missense 11:5709476-5709476 + T96 COSM238346 c.874+7G>A p.? Unknown 11:5708280-5708280 + TCGA-AA-3510-01 COSM1354723 c.3G>T p.M1I Substitution - Missense 11:5696235-5696235 + TCGA-EB-A5UL-06 COSM3449718 c.1019C>T p.S340F Substitution - Missense 11:5709170-5709170 + LUAD-E00934 COSM403322 c.1400A>G p.Y467C Substitution - Missense 11:5709551-5709551 + TCGA-AA-A010-01 COSM285937 c.1013A>C p.D338A Substitution - Missense 11:5709164-5709164 + 1_PRE-TREATMENT COSM1720767 c.1332G>A p.G444G Substitution - coding silent 11:5709483-5709483 + 19M COSM4197426 c.1012G>A p.D338N Substitution - Missense 11:5709163-5709163 + TCGA-AN-A046-01 COSM3809577 c.1055C>T p.S352L Substitution - Missense 11:5709206-5709206 + 587222 COSM928628 c.935C>T p.S312L Substitution - Missense 11:5709086-5709086 + CSCC-44-T COSM4451245 c.1126A>G p.S376G Substitution - Missense 11:5709277-5709277 + YUKAT COSM3449723 c.1455G>A p.W485* Substitution - Nonsense 11:5709606-5709606 + 12820 COSM5613404 c.1247G>T p.C416F Substitution - Missense 11:5709398-5709398 + 115T COSM1725363 c.443T>G p.L148R Substitution - Missense 11:5697267-5697267 + GC8_T COSM147126 c.694A>G p.T232A Substitution - Missense 11:5698489-5698489 + TCGA-D3-A2JF-06 COSM3449716 c.847C>T p.L283L Substitution - coding silent 11:5708246-5708246 + PT44 COSM5926807 c.958C>T p.Q320* Substitution - Nonsense 11:5709109-5709109 + TCGA-EI-6917-01 COSM3415993 c.1035C>T p.F345F Substitution - coding silent 11:5709186-5709186 + CN-AML-NR-08-Dx COSM3998480 c.300T>C p.H100H Substitution - coding silent 11:5696532-5696532 + PDA_031 COSM4999498 c.535G>A p.E179K Substitution - Missense 11:5698330-5698330 + PT15_1 COSM5897821 c.1484C>T p.P495L Substitution - Missense 11:5709635-5709635 + 546 COSM5012285 c.907G>A p.V303M Substitution - Missense 11:5709058-5709058 + SC_9016 COSM928606 c.348C>A p.C116* Substitution - Nonsense 11:5696580-5696580 + TCGA-AP-A056-01 COSM928608 c.414G>T p.K138N Substitution - Missense 11:5696646-5696646 + TCGA-BR-4267-01 COSM4034072 c.1198A>T p.R400* Substitution - Nonsense 11:5709349-5709349 + TCGA-EB-A431-01 COSM3449704 c.460G>A p.E154K Substitution - Missense 11:5697284-5697284 + TCGA-BR-4184-01 COSM1268517 c.979C>T p.R327C Substitution - Missense 11:5709130-5709130 + TCGA-AP-A059-01 COSM928626 c.835C>T p.R279* Substitution - Nonsense 11:5708234-5708234 + ZZUFHECRKL-G040T COSM5431036 c.664C>A p.Q222K Substitution - Missense 11:5698459-5698459 + TCGA-22-5478-01 COSM688399 c.559T>A p.F187I Substitution - Missense 11:5698354-5698354 + TCGA-FS-A1Z3-06 COSM3449721 c.1412G>A p.G471E Substitution - Missense 11:5709563-5709563 + PT52 COSM5940212 c.1216G>A p.G406S Substitution - Missense 11:5709367-5709367 + TCGA-FS-A1ZQ-06 COSM3449707 c.646C>T p.L216L Substitution - coding silent 11:5698441-5698441 + TCGA-ER-A19P-06 COSM3449708 c.743T>C p.M248T Substitution - Missense 11:5698538-5698538 + TCGA-FS-A4FC-06 COSM3449706 c.612G>A p.K204K Substitution - coding silent 11:5698407-5698407 + PM-3 COSM4735975 c.1418G>A p.R473H Substitution - Missense 11:5709569-5709569 + ESO-114 COSM179252 c.223G>A p.A75T Substitution - Missense 11:5696455-5696455 + TCGA-AA-3510-01 COSM1354729 c.531G>A p.Q177Q Substitution - coding silent 11:5698326-5698326 + TCGA-AP-A059-01 COSM928630 c.1021G>A p.A341T Substitution - Missense 11:5709172-5709172 + T2197 COSM4735971 c.368A>G p.Q123R Substitution - Missense 11:5696600-5696600 + EV007-R9 COSM4410997 c.1292delT p.L432fs*1 Deletion - Frameshift 11:5709443-5709443 + TCGA-EE-A2A0-06 COSM3449718 c.1019C>T p.S340F Substitution - Missense 11:5709170-5709170 + TCGA-AA-A010-01 COSM285938 c.1239G>T p.Q413H Substitution - Missense 11:5709390-5709390 + TCGA-HC-A6AS-01 COSM3670806 c.1376T>G p.V459G Substitution - Missense 11:5709527-5709527 + TCGA-32-2638-01 COSM3397878 c.1036G>A p.G346S Substitution - Missense 11:5709187-5709187 + Pat_60_A COSM5838833 c.874G>A p.E292K Substitution - Missense 11:5708273-5708273 + RK308_C01 COSM3739139 c.1218C>A p.G406G Substitution - coding silent 11:5709369-5709369 + 2492730 COSM5728201 c.280A>G p.R94G Substitution - Missense 11:5696512-5696512 + 31107 COSM5043632 c.640G>A p.D214N Substitution - Missense 11:5698435-5698435 + CSCC-11-T COSM4553737 c.599G>C p.R200T Substitution - Missense 11:5698394-5698394 + TCGA-GF-A6C9-06 COSM928628 c.935C>T p.S312L Substitution - Missense 11:5709086-5709086 + OSCC-GB_00920111 COSM4881671 c.1028G>T p.G343V Substitution - Missense 11:5709179-5709179 + LP6007420-DNA_A01 COSM4197334 c.319T>G p.F107V Substitution - Missense 11:5696551-5696551 + TCGA-EK-A3GK-01 COSM4853859 c.1001C>G p.S334* Substitution - Nonsense 11:5709152-5709152 + TCGA-FW-A3R5-06 COSM3869557 c.1446C>T p.F482F Substitution - coding silent 11:5709597-5709597 + TCGA-BS-A0UF-01 COSM928603 c.70G>T p.E24* Substitution - Nonsense 11:5696302-5696302 + 8047860 COSM3383596 c.534C>T p.I178I Substitution - coding silent 11:5698329-5698329 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.501778 11p15 606559 2455938|CGAP|BC035582|C/T|non-coding||2407|Candidate Hs.684550;Hs.684552;Hs.684553;Hs.684555;Hs.684557;Hs.684558;Hs.684559 11p15 606559 2455938|CGAP|BC035582|C/T|non-coding||2407|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E358D c.1074A>C 11 5730455 STAD A C Missense p.K102Q c.304A>C 11 5717766 CM A G 3-UTRSNV . c.1494+75A>G 11 5730950 HC A G Missense p.D111G c.332A>G 11 5717794 HNSC A G Missense p.H73R c.218A>G 11 5717680 LUAD A G Missense p.N306S c.917A>G 11 5730298 CM A T Nonsense p.R400* c.1198A>T 11 5730579 STAD C A Missense p.Q203K c.607C>A 11 5719632 NB C G Synonymous p.V137V c.411C>G 11 5717873 CM C T 3-UTRSNV . c.1494+23C>T 11 5730898 CM C T IntronicSNV . c.423+87C>T 11 5717972 CM C T IntronicSNV . c.519+41C>T 11 5718614 CM C T Missense p.P440L c.1319C>T 11 5730700 CM C T Missense p.P440L c.1319C>T 11 5730700 LUAD C T Missense p.R327C c.979C>T 11 5730360 ESCA C T Missense p.R327C c.979C>T 11 5730360 HNSC C T Missense p.R327C c.979C>T 11 5730360 STAD C T Missense p.R473C c.1417C>T 11 5730798 CM C T Missense p.S340F c.1019C>T 11 5730400 CM C T Nonsense p.Q225* c.673C>T 11 5719698 CM C T Nonsense p.R279* c.835C>T 11 5729464 STAD C T Nonsense p.R476* c.1426C>T 11 5730807 CM C T Nonsense p.R69* c.205C>T 11 5717667 RCCC C T Synonymous p.L148L c.442C>T 11 5718496 CM C T Synonymous p.L216L c.646C>T 11 5719671 CM C T Synonymous p.L283L c.847C>T 11 5729476 CM C T Synonymous p.V489V c.1467C>T 11 5730848 HNSC G A IntronicSNV . c.423+56G>A 11 5717941 CM G A Missense p.A75T c.223G>A 11 5717685 ESCA G A Missense p.E142K c.424G>A 11 5718478 CM G A Missense p.G346S c.1036G>A 11 5730417 GBM G A Missense p.G471E c.1412G>A 11 5730793 CM G A Missense p.M304I c.912G>A 11 5730293 LUAD G A Synonymous p.G353G c.1059G>A 11 5730440 CM G A Synonymous p.K265K c.795G>A 11 5729424 CM G A Synonymous p.K382K c.1146G>A 11 5730527 HNSC G A Synonymous p.K430K c.1290G>A 11 5730671 HNSC G C Missense p.E422Q c.1264G>C 11 5730645 LUSC G C Missense p.R381S c.1143G>C 11 5730524 ESCA G C Missense p.V246L c.736G>C 11 5719761 LUSC G T Missense p.C416F c.1247G>T 11 5730628 NSCLC G T Missense p.D319Y c.955G>T 11 5730336 LUAD G T Synonymous p.L283L c.849G>T 11 5729478 LUAD T A Missense p.F187I c.559T>A 11 5719584 LUSC TC AT Missense p.F350Y c.1049_1050delinsAT 11 5730430 CM T C Missense p.I253T c.758T>C 11 5727831 RCCC T C Missense p.M248T c.743T>C 11 5719768 CM T C Synonymous p.A158A c.474T>C 11 5718528 STAD T G Missense p.V459G c.1376T>G 11 5730757 PRAD