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 17 41327878 41327878 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr17:41327878C>G c.62C>G c.(61-63)tCt>tGt p.S21C BLCA 17 41329983 41329983 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 g.chr17:41329983C>G c.133C>G c.(133-135)Caa>Gaa p.Q45E BLCA 17 41331419 41331419 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 g.chr17:41331419C>G c.174C>G c.(172-174)atC>atG p.I58M BLCA 17 41341080 41341080 + Missense_Mutation SNP G G C TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr17:41341080G>C c.424G>C c.(424-426)Gac>Cac p.D142H BLCA 17 41341607 41341607 + Silent SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr17:41341607C>T c.483C>T c.(481-483)ttC>ttT p.F161F BLCA 17 41341649 41341649 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr17:41341649G>A c.525G>A c.(523-525)caG>caA p.Q175Q BLCA 17 41341805 41341805 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 g.chr17:41341805C>T c.681C>T c.(679-681)gtC>gtT p.V227V BLCA 17 41342744 41342744 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr17:41342744C>G c.814C>G c.(814-816)Cac>Gac p.H272D BLCA 17 41342757 41342757 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 g.chr17:41342757C>G c.827C>G c.(826-828)tCt>tGt p.S276C BLCA 17 41343528 41343528 + Missense_Mutation SNP A A T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 g.chr17:41343528A>T c.1003A>T c.(1003-1005)Atc>Ttc p.I335F BLCA 17 41345181 41345181 + Missense_Mutation SNP G G A TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr17:41345181G>A c.1144G>A c.(1144-1146)Gat>Aat p.D382N BLCA 17 41345231 41345231 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr17:41345231G>A c.1194G>A c.(1192-1194)atG>atA p.M398I BLCA 17 41349006 41349006 + Missense_Mutation SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr17:41349006G>A c.1909G>A c.(1909-1911)Gag>Aag p.E637K BLCA 17 41349105 41349105 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr17:41349105A>G c.2008A>G c.(2008-2010)Aga>Gga p.R670G BLCA 17 41352619 41352619 + Frame_Shift_Del DEL T T - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr17:41352619delT c.2462delT c.(2461-2463)ctgfs p.L821fs BLCA 17 41355748 41355748 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr17:41355748C>T c.2672C>T c.(2671-2673)tCt>tTt p.S891F BLCA 17 41355760 41355760 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr17:41355760C>T c.2684C>T c.(2683-2685)tCt>tTt p.S895F BRCA 17 41341611 41341611 + Missense_Mutation SNP G G A TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chr17:41341611G>A c.487G>A c.(487-489)Gaa>Aaa p.E163K BRCA 17 41349048 41349048 + Nonsense_Mutation SNP G G T TCGA-BH-A1FN-01A-11D-A13L-09 TCGA-BH-A1FN-11A-34D-A13O-09 g.chr17:41349048G>T c.1951G>T c.(1951-1953)Gag>Tag p.E651* BRCA 17 41355736 41355737 + Frame_Shift_Ins INS - - G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 g.chr17:41355736_41355737insG c.2660_2661insG c.(2659-2664)aaggggfs p.KG887fs BRCA 17 41362092 41362092 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 g.chr17:41362092G>A c.2900G>A c.(2899-2901)tGa>tAa p.*967* CESC 17 41345409 41345409 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr17:41345409G>C c.1278G>C c.(1276-1278)aaG>aaC p.K426N CESC 17 41348588 41348588 + Missense_Mutation SNP C C T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 g.chr17:41348588C>T c.1841C>T c.(1840-1842)gCa>gTa p.A614V COAD 17 41338374 41338374 + Missense_Mutation SNP G G T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:41338374G>T c.315G>T c.(313-315)agG>agT p.R105S COAD 17 41341750 41341750 + Missense_Mutation SNP A A T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr17:41341750A>T c.626A>T c.(625-627)aAc>aTc p.N209I COAD 17 41343477 41343477 + Nonsense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:41343477G>T c.952G>T c.(952-954)Gaa>Taa p.E318* COAD 17 41345635 41345635 + Missense_Mutation SNP G G A TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr17:41345635G>A c.1504G>A c.(1504-1506)Gat>Aat p.D502N COAD 17 41346400 41346401 + Frame_Shift_Ins INS - - T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr17:41346400_41346401insT c.1558_1559insT c.(1558-1560)cttfs p.L520fs COAD 17 41352389 41352389 + Frame_Shift_Del DEL C C - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:41352389delC c.2232delC c.(2230-2232)cgcfs p.R744fs COADREAD 17 41338374 41338374 + Missense_Mutation SNP G G T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:41338374G>T c.315G>T c.(313-315)agG>agT p.R105S COADREAD 17 41341750 41341750 + Missense_Mutation SNP A A T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr17:41341750A>T c.626A>T c.(625-627)aAc>aTc p.N209I COADREAD 17 41343477 41343477 + Nonsense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:41343477G>T c.952G>T c.(952-954)Gaa>Taa p.E318* COADREAD 17 41345635 41345635 + Missense_Mutation SNP G G A TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr17:41345635G>A c.1504G>A c.(1504-1506)Gat>Aat p.D502N COADREAD 17 41346400 41346401 + Frame_Shift_Ins INS - - T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr17:41346400_41346401insT c.1558_1559insT c.(1558-1560)cttfs p.L520fs COADREAD 17 41352389 41352389 + Frame_Shift_Del DEL C C - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:41352389delC c.2232delC c.(2230-2232)cgcfs p.R744fs DLBC 17 41342737 41342737 + Silent SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr17:41342737G>A c.807G>A c.(805-807)ccG>ccA p.P269P ESCA 17 41345151 41345151 + Missense_Mutation SNP A A G TCGA-2H-A9GJ-01A-11D-A37C-09 TCGA-2H-A9GJ-11A-11D-A37F-09 g.chr17:41345151A>G c.1114A>G c.(1114-1116)Agt>Ggt p.S372G ESCA 17 41362035 41362035 + Missense_Mutation SNP A A G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr17:41362035A>G c.2843A>G c.(2842-2844)cAg>cGg p.Q948R GBMLGG 17 41347051 41347051 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:41347051C>A c.1745C>A c.(1744-1746)cCt>cAt p.P582H GBMLGG 17 41352482 41352482 + Silent SNP A A G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 g.chr17:41352482A>G c.2325A>G c.(2323-2325)gaA>gaG p.E775E HNSC 17 41342660 41342660 + Missense_Mutation SNP G G A TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr17:41342660G>A c.730G>A c.(730-732)Gaa>Aaa p.E244K HNSC 17 41347008 41347008 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 g.chr17:41347008A>G c.1702A>G c.(1702-1704)Ata>Gta p.I568V KIPAN 17 41327859 41327859 + Missense_Mutation SNP A A T TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr17:41327859A>T c.43A>T c.(43-45)Att>Ttt p.I15F KIPAN 17 41341626 41341626 + Missense_Mutation SNP G G A TCGA-CZ-4859-01A-02D-1429-08 TCGA-CZ-4859-11A-01D-1429-08 g.chr17:41341626G>A c.502G>A c.(502-504)Gaa>Aaa p.E168K KIPAN 17 41341718 41341718 + Silent SNP T T C TCGA-Y8-A8RY-01A-11D-A36X-10 TCGA-Y8-A8RY-10A-01D-A370-10 g.chr17:41341718T>C c.594T>C c.(592-594)ccT>ccC p.P198P KIPAN 17 41341765 41341766 + Frame_Shift_Del DEL AT AT - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr17:41341765_41341766delAT c.641_642delAT c.(640-642)catfs p.H214fs KIPAN 17 41343513 41343513 + Missense_Mutation SNP C C T TCGA-CZ-5461-01A-01D-1501-10 TCGA-CZ-5461-11A-01D-1501-10 g.chr17:41343513C>T c.988C>T c.(988-990)Cac>Tac p.H330Y KIPAN 17 41343586 41343586 + Missense_Mutation SNP C C G TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr17:41343586C>G c.1061C>G c.(1060-1062)tCt>tGt p.S354C KIPAN 17 41345527 41345527 + Missense_Mutation SNP C C A TCGA-B0-5702-01A-11D-1534-10 TCGA-B0-5702-11A-01D-1534-10 g.chr17:41345527C>A c.1396C>A c.(1396-1398)Cag>Aag p.Q466K KIPAN 17 41349125 41349125 + Splice_Site SNP T T C TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr17:41349125T>C c.e16+2 KIPAN 17 41353793 41353793 + Missense_Mutation SNP A A T TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr17:41353793A>T c.2559A>T c.(2557-2559)agA>agT p.R853S KIRC 17 41327859 41327859 + Missense_Mutation SNP A A T TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr17:41327859A>T c.43A>T c.(43-45)Att>Ttt p.I15F KIRC 17 41341626 41341626 + Missense_Mutation SNP G G A TCGA-CZ-4859-01A-02D-1429-08 TCGA-CZ-4859-11A-01D-1429-08 g.chr17:41341626G>A c.502G>A c.(502-504)Gaa>Aaa p.E168K KIRC 17 41341765 41341766 + Frame_Shift_Del DEL AT AT - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr17:41341765_41341766delAT c.641_642delAT c.(640-642)catfs p.H214fs KIRC 17 41343513 41343513 + Missense_Mutation SNP C C T TCGA-CZ-5461-01A-01D-1501-10 TCGA-CZ-5461-11A-01D-1501-10 g.chr17:41343513C>T c.988C>T c.(988-990)Cac>Tac p.H330Y KIRC 17 41345527 41345527 + Missense_Mutation SNP C C A TCGA-B0-5702-01A-11D-1534-10 TCGA-B0-5702-11A-01D-1534-10 g.chr17:41345527C>A c.1396C>A c.(1396-1398)Cag>Aag p.Q466K KIRC 17 41349125 41349125 + Splice_Site SNP T T C TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr17:41349125T>C c.e16+2 KIRP 17 41341718 41341718 + Silent SNP T T C TCGA-Y8-A8RY-01A-11D-A36X-10 TCGA-Y8-A8RY-10A-01D-A370-10 g.chr17:41341718T>C c.594T>C c.(592-594)ccT>ccC p.P198P KIRP 17 41343586 41343586 + Missense_Mutation SNP C C G TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr17:41343586C>G c.1061C>G c.(1060-1062)tCt>tGt p.S354C KIRP 17 41353793 41353793 + Missense_Mutation SNP A A T TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr17:41353793A>T c.2559A>T c.(2557-2559)agA>agT p.R853S LGG 17 41347051 41347051 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:41347051C>A c.1745C>A c.(1744-1746)cCt>cAt p.P582H LGG 17 41352482 41352482 + Silent SNP A A G TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 g.chr17:41352482A>G c.2325A>G c.(2323-2325)gaA>gaG p.E775E LIHC 17 41341610 41341610 + Missense_Mutation SNP A A T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr17:41341610A>T c.486A>T c.(484-486)agA>agT p.R162S LIHC 17 41345518 41345518 + Missense_Mutation SNP C C T TCGA-BC-A217-01A-11D-A152-10 TCGA-BC-A217-10A-01D-A152-10 g.chr17:41345518C>T c.1387C>T c.(1387-1389)Cac>Tac p.H463Y LIHC 17 41346472 41346472 + Missense_Mutation SNP G G A TCGA-ZS-A9CF-01A-11D-A382-10 TCGA-ZS-A9CF-10A-01D-A385-10 g.chr17:41346472G>A c.1630G>A c.(1630-1632)Gag>Aag p.E544K LIHC 17 41347008 41347008 + Missense_Mutation SNP A A G TCGA-DD-AACP-01A-11D-A40R-10 TCGA-DD-AACP-10A-01D-A40U-10 g.chr17:41347008A>G c.1702A>G c.(1702-1704)Ata>Gta p.I568V LIHC 17 41349033 41349033 + Missense_Mutation SNP A A G TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr17:41349033A>G c.1936A>G c.(1936-1938)Acc>Gcc p.T646A LIHC 17 41352494 41352495 + Frame_Shift_Ins INS - - G TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr17:41352494_41352495insG c.2337_2338insG c.(2338-2340)gggfs p.G780fs LIHC 17 41352594 41352594 + Missense_Mutation SNP G G C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr17:41352594G>C c.2437G>C c.(2437-2439)Gag>Cag p.E813Q LUAD 17 41341637 41341637 + Missense_Mutation SNP G G C TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr17:41341637G>C c.513G>C c.(511-513)gaG>gaC p.E171D LUAD 17 41341693 41341693 + Missense_Mutation SNP C C T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr17:41341693C>T c.569C>T c.(568-570)tCt>tTt p.S190F LUAD 17 41345114 41345114 + Silent SNP C C T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr17:41345114C>T c.1077C>T c.(1075-1077)ctC>ctT p.L359L LUAD 17 41345412 41345412 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr17:41345412G>T c.1281G>T c.(1279-1281)aaG>aaT p.K427N LUAD 17 41352478 41352478 + Missense_Mutation SNP A A T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr17:41352478A>T c.2321A>T c.(2320-2322)cAg>cTg p.Q774L LUSC 17 41341074 41341074 + Missense_Mutation SNP C C G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr17:41341074C>G c.418C>G c.(418-420)Cca>Gca p.P140A LUSC 17 41341086 41341086 + Missense_Mutation SNP G G C TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr17:41341086G>C c.430G>C c.(430-432)Gac>Cac p.D144H LUSC 17 41362019 41362019 + Missense_Mutation SNP A A T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr17:41362019A>T c.2827A>T c.(2827-2829)Aat>Tat p.N943Y PAAD 17 41341806 41341806 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr17:41341806C>A c.682C>A c.(682-684)Cgc>Agc p.R228S PRAD 17 41341626 41341626 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:41341626G>A c.502G>A c.(502-504)Gaa>Aaa p.E168K PRAD 17 41345493 41345493 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:41345493G>A c.1362G>A c.(1360-1362)acG>acA p.T454T SKCM 17 41341698 41341698 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr17:41341698C>T c.574C>T c.(574-576)Ccc>Tcc p.P192S SKCM 17 41341720 41341720 + Missense_Mutation SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr17:41341720C>T c.596C>T c.(595-597)aCt>aTt p.T199I SKCM 17 41342735 41342735 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:41342735C>T c.805C>T c.(805-807)Ccg>Tcg p.P269S SKCM 17 41343492 41343492 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr17:41343492C>T c.967C>T c.(967-969)Ctt>Ttt p.L323F SKCM 17 41343547 41343547 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr17:41343547C>T c.1022C>T c.(1021-1023)cCc>cTc p.P341L SKCM 17 41343548 41343548 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr17:41343548C>T c.1023C>T c.(1021-1023)ccC>ccT p.P341P SKCM 17 41343555 41343555 + Missense_Mutation SNP C C T TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr17:41343555C>T c.1030C>T c.(1030-1032)Cct>Tct p.P344S SKCM 17 41345540 41345540 + Missense_Mutation SNP C C T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 g.chr17:41345540C>T c.1409C>T c.(1408-1410)cCt>cTt p.P470L SKCM 17 41346379 41346379 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr17:41346379C>T c.1537C>T c.(1537-1539)Ctg>Ttg p.L513L SKCM 17 41346489 41346489 + Silent SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr17:41346489C>T c.1647C>T c.(1645-1647)atC>atT p.I549I SKCM 17 41349035 41349035 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr17:41349035C>T c.1938C>T c.(1936-1938)acC>acT p.T646T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 41365156 41365156 single base substitution C T downstream_gene_variant BLCA-US 17 41329983 41329983 single base substitution C G downstream_gene_variant BLCA-US 17 41329983 41329983 single base substitution C G intron_variant BLCA-US 17 41329983 41329983 single base substitution C G missense_variant Q45E 133C>G BLCA-US 17 41331419 41331419 single base substitution C G downstream_gene_variant BLCA-US 17 41331419 41331419 single base substitution C G intron_variant BLCA-US 17 41331419 41331419 single base substitution C G missense_variant I37M 111C>G BLCA-US 17 41331419 41331419 single base substitution C G missense_variant I58M 174C>G BLCA-US 17 41341649 41341649 single base substitution G A synonymous_variant Q154Q 462G>A BLCA-US 17 41341649 41341649 single base substitution G A synonymous_variant Q175Q 525G>A BLCA-US 17 41341649 41341649 single base substitution G A upstream_gene_variant BLCA-US 17 41342744 41342744 single base substitution C G exon_variant BLCA-US 17 41342744 41342744 single base substitution C G missense_variant H251D 751C>G BLCA-US 17 41342744 41342744 single base substitution C G missense_variant H272D 814C>G BLCA-US 17 41343528 41343528 single base substitution A T exon_variant BLCA-US 17 41343528 41343528 single base substitution A T missense_variant I314F 940A>T BLCA-US 17 41343528 41343528 single base substitution A T missense_variant I335F 1003A>T BLCA-US 17 41345231 41345231 single base substitution G A exon_variant BLCA-US 17 41345231 41345231 single base substitution G A missense_variant M377I 1131G>A BLCA-US 17 41345231 41345231 single base substitution G A missense_variant M398I 1194G>A BLCA-US 17 41352511 41352511 single base substitution G T downstream_gene_variant BLCA-US 17 41352511 41352511 single base substitution G T missense_variant G764V 2291G>T BLCA-US 17 41352511 41352511 single base substitution G T missense_variant G785V 2354G>T BLCA-US 17 41352619 41352619 deletion of <=200bp T - downstream_gene_variant BLCA-US 17 41352619 41352619 deletion of <=200bp T - frameshift_variant L800 BLCA-US 17 41352619 41352619 deletion of <=200bp T - frameshift_variant L821 BLCA-US 17 41355748 41355748 single base substitution C T intron_variant BLCA-US 17 41355748 41355748 single base substitution C T missense_variant S891F 2672C>T BLCA-US 17 41355760 41355760 single base substitution C T intron_variant BLCA-US 17 41355760 41355760 single base substitution C T missense_variant S895F 2684C>T BRCA-EU 17 41317748 41317748 single base substitution T C upstream_gene_variant BRCA-EU 17 41317758 41317758 single base substitution C A upstream_gene_variant BRCA-EU 17 41321889 41321889 single base substitution G A upstream_gene_variant BRCA-EU 17 41322644 41322644 single base substitution G C 5_prime_UTR_variant BRCA-EU 17 41322644 41322644 single base substitution G C intron_variant BRCA-EU 17 41322644 41322644 single base substitution G C upstream_gene_variant BRCA-EU 17 41323649 41323649 single base substitution G T intron_variant BRCA-EU 17 41323687 41323687 deletion of <=200bp A - intron_variant BRCA-EU 17 41324523 41324523 single base substitution T C intron_variant BRCA-EU 17 41325296 41325296 single base substitution G A intron_variant BRCA-EU 17 41328631 41328631 single base substitution A C exon_variant BRCA-EU 17 41328631 41328631 single base substitution A C intron_variant BRCA-EU 17 41331166 41331166 single base substitution C G downstream_gene_variant BRCA-EU 17 41331166 41331166 single base substitution C G intron_variant BRCA-EU 17 41331494 41331494 single base substitution C G downstream_gene_variant BRCA-EU 17 41331494 41331494 single base substitution C G intron_variant BRCA-EU 17 41332531 41332531 single base substitution C T downstream_gene_variant BRCA-EU 17 41332531 41332531 single base substitution C T intron_variant BRCA-EU 17 41332797 41332797 insertion of <=200bp - A downstream_gene_variant BRCA-EU 17 41332797 41332797 insertion of <=200bp - A intron_variant BRCA-EU 17 41332797 41332797 insertion of <=200bp - A splice_region_variant BRCA-EU 17 41332955 41332955 single base substitution C T downstream_gene_variant BRCA-EU 17 41332955 41332955 single base substitution C T intron_variant BRCA-EU 17 41332971 41332971 single base substitution C G downstream_gene_variant BRCA-EU 17 41332971 41332971 single base substitution C G intron_variant BRCA-EU 17 41334008 41334008 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 41334008 41334008 deletion of <=200bp A - intron_variant BRCA-EU 17 41334598 41334598 single base substitution C A downstream_gene_variant BRCA-EU 17 41334598 41334598 single base substitution C A intron_variant BRCA-EU 17 41335928 41335928 single base substitution C A intron_variant BRCA-EU 17 41337779 41337779 single base substitution C T intron_variant BRCA-EU 17 41337779 41337779 single base substitution C T upstream_gene_variant BRCA-EU 17 41338534 41338538 deletion of <=200bp TTTAT - intron_variant BRCA-EU 17 41338534 41338538 deletion of <=200bp TTTAT - upstream_gene_variant BRCA-EU 17 41341190 41341190 single base substitution G T intron_variant BRCA-EU 17 41341190 41341190 single base substitution G T upstream_gene_variant BRCA-EU 17 41341373 41341373 single base substitution G C intron_variant BRCA-EU 17 41341373 41341373 single base substitution G C upstream_gene_variant BRCA-EU 17 41342549 41342549 single base substitution G C exon_variant BRCA-EU 17 41342549 41342549 single base substitution G C intron_variant BRCA-EU 17 41343905 41343905 insertion of <=200bp - T intron_variant BRCA-EU 17 41344625 41344625 single base substitution A T intron_variant BRCA-EU 17 41345555 41345555 single base substitution G C exon_variant BRCA-EU 17 41345555 41345555 single base substitution G C missense_variant S454T 1361G>C BRCA-EU 17 41345555 41345555 single base substitution G C missense_variant S475T 1424G>C BRCA-EU 17 41348034 41348034 single base substitution G A exon_variant BRCA-EU 17 41348034 41348034 single base substitution G A intron_variant BRCA-EU 17 41348448 41348448 single base substitution T A downstream_gene_variant BRCA-EU 17 41348448 41348448 single base substitution T A intron_variant BRCA-EU 17 41350168 41350168 single base substitution G C downstream_gene_variant BRCA-EU 17 41350168 41350168 single base substitution G C intron_variant BRCA-EU 17 41351372 41351372 single base substitution G A downstream_gene_variant BRCA-EU 17 41351372 41351372 single base substitution G A intron_variant BRCA-EU 17 41352594 41352594 single base substitution G C downstream_gene_variant BRCA-EU 17 41352594 41352594 single base substitution G C missense_variant E792Q 2374G>C BRCA-EU 17 41352594 41352594 single base substitution G C missense_variant E813Q 2437G>C BRCA-EU 17 41356364 41356364 single base substitution C G intron_variant BRCA-EU 17 41356971 41356971 single base substitution G C intron_variant BRCA-EU 17 41357507 41357507 single base substitution A T intron_variant BRCA-EU 17 41360828 41360828 single base substitution A G intron_variant BRCA-EU 17 41361190 41361190 single base substitution G T intron_variant BRCA-EU 17 41361278 41361278 single base substitution G A intron_variant BRCA-EU 17 41361899 41361899 deletion of <=200bp G - downstream_gene_variant BRCA-EU 17 41361899 41361899 deletion of <=200bp G - intron_variant BRCA-EU 17 41361914 41361914 single base substitution A G downstream_gene_variant BRCA-EU 17 41361914 41361914 single base substitution A G intron_variant BRCA-EU 17 41361988 41361988 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 41361988 41361988 single base substitution G A downstream_gene_variant BRCA-EU 17 41361988 41361988 single base substitution G A synonymous_variant R932R 2796G>A BRCA-EU 17 41363612 41363612 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 41363612 41363612 single base substitution G A downstream_gene_variant BRCA-EU 17 41363965 41363965 single base substitution A G downstream_gene_variant BRCA-EU 17 41365071 41365071 single base substitution C A downstream_gene_variant BRCA-FR 17 41322644 41322644 single base substitution G C 5_prime_UTR_variant BRCA-FR 17 41322644 41322644 single base substitution G C intron_variant BRCA-FR 17 41322644 41322644 single base substitution G C upstream_gene_variant BRCA-FR 17 41325282 41325282 single base substitution C T intron_variant BRCA-FR 17 41336540 41336540 single base substitution G T intron_variant BRCA-FR 17 41342549 41342549 single base substitution G C exon_variant BRCA-FR 17 41342549 41342549 single base substitution G C intron_variant BRCA-FR 17 41350168 41350168 single base substitution G C downstream_gene_variant BRCA-FR 17 41350168 41350168 single base substitution G C intron_variant BRCA-FR 17 41352594 41352594 single base substitution G C downstream_gene_variant BRCA-FR 17 41352594 41352594 single base substitution G C missense_variant E792Q 2374G>C BRCA-FR 17 41352594 41352594 single base substitution G C missense_variant E813Q 2437G>C BRCA-FR 17 41356364 41356364 single base substitution C G intron_variant BRCA-FR 17 41360828 41360828 single base substitution A G intron_variant BRCA-FR 17 41361278 41361278 single base substitution G A intron_variant BRCA-FR 17 41367591 41367591 single base substitution C A downstream_gene_variant BRCA-UK 17 41341190 41341190 single base substitution G T intron_variant BRCA-UK 17 41341190 41341190 single base substitution G T upstream_gene_variant BRCA-UK 17 41351372 41351372 single base substitution G A downstream_gene_variant BRCA-UK 17 41351372 41351372 single base substitution G A intron_variant BRCA-US 17 41341611 41341611 single base substitution G A missense_variant E142K 424G>A BRCA-US 17 41341611 41341611 single base substitution G A missense_variant E163K 487G>A BRCA-US 17 41341611 41341611 single base substitution G A upstream_gene_variant BRCA-US 17 41349048 41349048 single base substitution G T downstream_gene_variant BRCA-US 17 41349048 41349048 single base substitution G T stop_gained E630* 1888G>T BRCA-US 17 41349048 41349048 single base substitution G T stop_gained E651* 1951G>T BRCA-US 17 41355736 41355736 insertion of <=200bp - G frameshift_variant K887R? BRCA-US 17 41355736 41355736 insertion of <=200bp - G intron_variant BRCA-US 17 41362092 41362092 single base substitution G A downstream_gene_variant BRCA-US 17 41362092 41362092 single base substitution G A stop_retained_variant *967* 2900G>A BRCA-US 17 41365219 41365219 single base substitution T G downstream_gene_variant BRCA-US 17 41368538 41368538 single base substitution A C downstream_gene_variant BRCA-US 17 41368593 41368593 single base substitution T C downstream_gene_variant BTCA-JP 17 41330165 41330165 single base substitution G A downstream_gene_variant BTCA-JP 17 41330165 41330165 single base substitution G A intron_variant BTCA-JP 17 41331381 41331381 single base substitution A C downstream_gene_variant BTCA-JP 17 41331381 41331381 single base substitution A C intron_variant BTCA-JP 17 41331460 41331460 single base substitution G A downstream_gene_variant BTCA-JP 17 41331460 41331460 single base substitution G A intron_variant BTCA-JP 17 41346942 41346942 single base substitution C A exon_variant BTCA-JP 17 41346942 41346942 single base substitution C A intron_variant BTCA-JP 17 41353814 41353814 single base substitution G A intron_variant BTCA-JP 17 41368008 41368008 single base substitution G A downstream_gene_variant BTCA-JP 17 41368414 41368414 single base substitution T G downstream_gene_variant CESC-US 17 41345409 41345409 single base substitution G C exon_variant CESC-US 17 41345409 41345409 single base substitution G C missense_variant K405N 1215G>C CESC-US 17 41345409 41345409 single base substitution G C missense_variant K426N 1278G>C CESC-US 17 41348588 41348588 single base substitution C T downstream_gene_variant CESC-US 17 41348588 41348588 single base substitution C T missense_variant A593V 1778C>T CESC-US 17 41348588 41348588 single base substitution C T missense_variant A614V 1841C>T CLLE-ES 17 41330535 41330535 single base substitution A G downstream_gene_variant CLLE-ES 17 41330535 41330535 single base substitution A G intron_variant CLLE-ES 17 41334383 41334383 single base substitution C T downstream_gene_variant CLLE-ES 17 41334383 41334383 single base substitution C T intron_variant CLLE-ES 17 41343300 41343300 single base substitution C T intron_variant CLLE-ES 17 41364196 41364196 single base substitution C T downstream_gene_variant CLLE-ES 17 41366231 41366231 single base substitution A G downstream_gene_variant COAD-US 17 41343442 41343442 single base substitution G A exon_variant COAD-US 17 41343442 41343442 single base substitution G A missense_variant R285Q 854G>A COAD-US 17 41343442 41343442 single base substitution G A missense_variant R306Q 917G>A COAD-US 17 41343477 41343477 single base substitution G T exon_variant COAD-US 17 41343477 41343477 single base substitution G T stop_gained E297* 889G>T COAD-US 17 41343477 41343477 single base substitution G T stop_gained E318* 952G>T COAD-US 17 41346400 41346400 insertion of <=200bp - T exon_variant COAD-US 17 41346400 41346400 insertion of <=200bp - T frameshift_variant L499S? COAD-US 17 41346400 41346400 insertion of <=200bp - T frameshift_variant L520S? COAD-US 17 41352389 41352389 deletion of <=200bp C - downstream_gene_variant COAD-US 17 41352389 41352389 deletion of <=200bp C - frameshift_variant R723 COAD-US 17 41352389 41352389 deletion of <=200bp C - frameshift_variant R744 COAD-US 17 41361960 41361960 single base substitution A G 3_prime_UTR_variant COAD-US 17 41361960 41361960 single base substitution A G downstream_gene_variant COAD-US 17 41361960 41361960 single base substitution A G missense_variant H923R 2768A>G COAD-US 17 41365129 41365129 insertion of <=200bp - C downstream_gene_variant COCA-CN 17 41327624 41327624 single base substitution C T intron_variant COCA-CN 17 41327671 41327671 single base substitution C A intron_variant COCA-CN 17 41330127 41330127 single base substitution T G downstream_gene_variant COCA-CN 17 41330127 41330127 single base substitution T G intron_variant COCA-CN 17 41331263 41331263 single base substitution T G downstream_gene_variant COCA-CN 17 41331263 41331263 single base substitution T G intron_variant COCA-CN 17 41331396 41331396 single base substitution T G downstream_gene_variant COCA-CN 17 41331396 41331396 single base substitution T G intron_variant COCA-CN 17 41342625 41342625 single base substitution G A exon_variant COCA-CN 17 41342625 41342625 single base substitution G A splice_acceptor_variant COCA-CN 17 41343622 41343622 single base substitution G T intron_variant COCA-CN 17 41347085 41347085 single base substitution C T exon_variant COCA-CN 17 41347085 41347085 single base substitution C T intron_variant COCA-CN 17 41348462 41348462 single base substitution C T downstream_gene_variant COCA-CN 17 41348462 41348462 single base substitution C T intron_variant COCA-CN 17 41361474 41361474 single base substitution A G intron_variant COCA-CN 17 41365027 41365027 single base substitution C A downstream_gene_variant COCA-CN 17 41365834 41365834 insertion of <=200bp - TC downstream_gene_variant COCA-CN 17 41368451 41368451 single base substitution C T downstream_gene_variant EOPC-DE 17 41361316 41361316 single base substitution C G intron_variant ESAD-UK 17 41320654 41320654 single base substitution C T upstream_gene_variant ESAD-UK 17 41322990 41322990 single base substitution C T intron_variant ESAD-UK 17 41322990 41322990 single base substitution C T upstream_gene_variant ESAD-UK 17 41323075 41323075 single base substitution T G intron_variant ESAD-UK 17 41323075 41323075 single base substitution T G upstream_gene_variant ESAD-UK 17 41323157 41323157 single base substitution A G intron_variant ESAD-UK 17 41323157 41323157 single base substitution A G upstream_gene_variant ESAD-UK 17 41323581 41323581 single base substitution G A intron_variant ESAD-UK 17 41323909 41323909 insertion of <=200bp - CTTG intron_variant ESAD-UK 17 41325098 41325108 deletion of <=200bp CTCCCAAAGTG - intron_variant ESAD-UK 17 41325284 41325284 single base substitution G A intron_variant ESAD-UK 17 41326476 41326476 single base substitution G A intron_variant ESAD-UK 17 41328885 41328885 insertion of <=200bp - C downstream_gene_variant ESAD-UK 17 41328885 41328885 insertion of <=200bp - C intron_variant ESAD-UK 17 41333251 41333251 single base substitution G A downstream_gene_variant ESAD-UK 17 41333251 41333251 single base substitution G A intron_variant ESAD-UK 17 41334008 41334008 deletion of <=200bp A - downstream_gene_variant ESAD-UK 17 41334008 41334008 deletion of <=200bp A - intron_variant ESAD-UK 17 41334302 41334302 single base substitution T C downstream_gene_variant ESAD-UK 17 41334302 41334302 single base substitution T C intron_variant ESAD-UK 17 41334508 41334508 single base substitution G A downstream_gene_variant ESAD-UK 17 41334508 41334508 single base substitution G A intron_variant ESAD-UK 17 41335990 41335990 single base substitution A G intron_variant ESAD-UK 17 41336888 41336888 single base substitution A G intron_variant ESAD-UK 17 41336999 41336999 single base substitution G A intron_variant ESAD-UK 17 41336999 41336999 single base substitution G A upstream_gene_variant ESAD-UK 17 41339052 41339052 single base substitution G A intron_variant ESAD-UK 17 41339052 41339052 single base substitution G A upstream_gene_variant ESAD-UK 17 41339368 41339368 single base substitution T A intron_variant ESAD-UK 17 41339368 41339368 single base substitution T A upstream_gene_variant ESAD-UK 17 41339584 41339584 single base substitution G A intron_variant ESAD-UK 17 41339584 41339584 single base substitution G A upstream_gene_variant ESAD-UK 17 41344523 41344523 single base substitution C G intron_variant ESAD-UK 17 41348343 41348343 single base substitution C G downstream_gene_variant ESAD-UK 17 41348343 41348343 single base substitution C G intron_variant ESAD-UK 17 41348408 41348408 single base substitution A G downstream_gene_variant ESAD-UK 17 41348408 41348408 single base substitution A G intron_variant ESAD-UK 17 41348409 41348409 single base substitution G T downstream_gene_variant ESAD-UK 17 41348409 41348409 single base substitution G T intron_variant ESAD-UK 17 41349333 41349333 single base substitution A C downstream_gene_variant ESAD-UK 17 41349333 41349333 single base substitution A C intron_variant ESAD-UK 17 41349365 41349365 single base substitution T C downstream_gene_variant ESAD-UK 17 41349365 41349365 single base substitution T C intron_variant ESAD-UK 17 41351401 41351401 single base substitution T A downstream_gene_variant ESAD-UK 17 41351401 41351401 single base substitution T A intron_variant ESAD-UK 17 41353019 41353019 single base substitution G T downstream_gene_variant ESAD-UK 17 41353019 41353019 single base substitution G T intron_variant ESAD-UK 17 41355783 41355783 single base substitution G A intron_variant ESAD-UK 17 41355783 41355783 single base substitution G A missense_variant G903R 2707G>A ESAD-UK 17 41356123 41356123 single base substitution T G intron_variant ESAD-UK 17 41356182 41356182 single base substitution C T intron_variant ESAD-UK 17 41356605 41356605 single base substitution G C intron_variant ESAD-UK 17 41362749 41362762 deletion of <=200bp GCTGATAAACCTAC - 3_prime_UTR_variant ESAD-UK 17 41362749 41362762 deletion of <=200bp GCTGATAAACCTAC - downstream_gene_variant ESAD-UK 17 41362959 41362959 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 17 41362959 41362959 deletion of <=200bp A - downstream_gene_variant ESAD-UK 17 41366269 41366269 single base substitution T C downstream_gene_variant ESCA-CN 17 41341112 41341112 single base substitution C A missense_variant D131E 393C>A ESCA-CN 17 41341112 41341112 single base substitution C A missense_variant D152E 456C>A ESCA-CN 17 41341112 41341112 single base substitution C A upstream_gene_variant ESCA-CN 17 41365803 41365803 single base substitution C G downstream_gene_variant GBM-US 17 41365143 41365143 single base substitution G A downstream_gene_variant KIRC-US 17 41327859 41327859 single base substitution A T exon_variant KIRC-US 17 41327859 41327859 single base substitution A T missense_variant I15F 43A>T KIRC-US 17 41341626 41341626 single base substitution G A missense_variant E147K 439G>A KIRC-US 17 41341626 41341626 single base substitution G A missense_variant E168K 502G>A KIRC-US 17 41341626 41341626 single base substitution G A upstream_gene_variant KIRC-US 17 41343513 41343513 single base substitution C T exon_variant KIRC-US 17 41343513 41343513 single base substitution C T missense_variant H309Y 925C>T KIRC-US 17 41343513 41343513 single base substitution C T missense_variant H330Y 988C>T KIRC-US 17 41345367 41345367 single base substitution C G splice_region_variant KIRC-US 17 41345527 41345527 single base substitution C A exon_variant KIRC-US 17 41345527 41345527 single base substitution C A missense_variant Q445K 1333C>A KIRC-US 17 41345527 41345527 single base substitution C A missense_variant Q466K 1396C>A KIRC-US 17 41349125 41349125 single base substitution T C downstream_gene_variant KIRC-US 17 41349125 41349125 single base substitution T C splice_donor_variant KIRC-US 17 41365129 41365129 insertion of <=200bp - C downstream_gene_variant KIRC-US 17 41368531 41368531 single base substitution G A downstream_gene_variant KIRP-US 17 41343439 41343439 single base substitution T C exon_variant KIRP-US 17 41343439 41343439 single base substitution T C missense_variant L284S 851T>C KIRP-US 17 41343439 41343439 single base substitution T C missense_variant L305S 914T>C KIRP-US 17 41365849 41365849 single base substitution C T downstream_gene_variant LAML-KR 17 41335061 41335061 single base substitution G A intron_variant LAML-KR 17 41361960 41361960 single base substitution A G 3_prime_UTR_variant LAML-KR 17 41361960 41361960 single base substitution A G downstream_gene_variant LAML-KR 17 41361960 41361960 single base substitution A G missense_variant H923R 2768A>G LICA-CN 17 41353763 41353763 single base substitution A G synonymous_variant P822P 2466A>G LICA-CN 17 41353763 41353763 single base substitution A G synonymous_variant P843P 2529A>G LICA-CN 17 41355770 41355770 single base substitution G T intron_variant LICA-CN 17 41355770 41355770 single base substitution G T missense_variant K898N 2694G>T LICA-CN 17 41365080 41365080 single base substitution A T downstream_gene_variant LICA-FR 17 41348317 41348317 deletion of <=200bp C - downstream_gene_variant LICA-FR 17 41348317 41348317 deletion of <=200bp C - intron_variant LICA-FR 17 41349966 41349966 single base substitution C T downstream_gene_variant LICA-FR 17 41349966 41349966 single base substitution C T intron_variant LICA-FR 17 41356831 41356831 deletion of <=200bp A - intron_variant LICA-FR 17 41357937 41357937 single base substitution G T intron_variant LICA-FR 17 41358988 41358988 single base substitution G C intron_variant LICA-FR 17 41365203 41365203 single base substitution G T downstream_gene_variant LIHC-US 17 41341610 41341610 single base substitution A T missense_variant R141S 423A>T LIHC-US 17 41341610 41341610 single base substitution A T missense_variant R162S 486A>T LIHC-US 17 41341610 41341610 single base substitution A T upstream_gene_variant LIHC-US 17 41345518 41345518 single base substitution C T exon_variant LIHC-US 17 41345518 41345518 single base substitution C T missense_variant H442Y 1324C>T LIHC-US 17 41345518 41345518 single base substitution C T missense_variant H463Y 1387C>T LIHC-US 17 41347052 41347052 single base substitution T G exon_variant LIHC-US 17 41347052 41347052 single base substitution T G synonymous_variant P561P 1683T>G LIHC-US 17 41347052 41347052 single base substitution T G synonymous_variant P582P 1746T>G LIHC-US 17 41349033 41349033 single base substitution A G downstream_gene_variant LIHC-US 17 41349033 41349033 single base substitution A G missense_variant T625A 1873A>G LIHC-US 17 41349033 41349033 single base substitution A G missense_variant T646A 1936A>G LIHC-US 17 41352594 41352594 single base substitution G C downstream_gene_variant LIHC-US 17 41352594 41352594 single base substitution G C missense_variant E792Q 2374G>C LIHC-US 17 41352594 41352594 single base substitution G C missense_variant E813Q 2437G>C LINC-JP 17 41322520 41322520 single base substitution G A 5_prime_UTR_variant LINC-JP 17 41322520 41322520 single base substitution G A upstream_gene_variant LINC-JP 17 41326382 41326382 single base substitution G T intron_variant LINC-JP 17 41346110 41346110 single base substitution G A intron_variant LINC-JP 17 41348497 41348497 single base substitution G A downstream_gene_variant LINC-JP 17 41348497 41348497 single base substitution G A splice_acceptor_variant LINC-JP 17 41348500 41348500 single base substitution G T downstream_gene_variant LINC-JP 17 41348500 41348500 single base substitution G T missense_variant V564L 1690G>T LINC-JP 17 41348500 41348500 single base substitution G T missense_variant V585L 1753G>T LINC-JP 17 41352508 41352508 single base substitution C T downstream_gene_variant LINC-JP 17 41352508 41352508 single base substitution C T missense_variant P763L 2288C>T LINC-JP 17 41352508 41352508 single base substitution C T missense_variant P784L 2351C>T LINC-JP 17 41353592 41353592 single base substitution A G intron_variant LINC-JP 17 41353683 41353683 single base substitution A C intron_variant LINC-JP 17 41355619 41355619 single base substitution A T intron_variant LINC-JP 17 41356174 41356174 single base substitution C T intron_variant LINC-JP 17 41364855 41364855 single base substitution G A downstream_gene_variant LINC-JP 17 41365806 41365806 single base substitution A T downstream_gene_variant LINC-JP 17 41367788 41367788 single base substitution G A downstream_gene_variant LINC-JP 17 41368190 41368190 single base substitution G A downstream_gene_variant LIRI-JP 17 41318889 41318889 single base substitution T G upstream_gene_variant LIRI-JP 17 41324115 41324115 single base substitution G T intron_variant LIRI-JP 17 41326054 41326054 single base substitution A G intron_variant LIRI-JP 17 41326487 41326487 single base substitution C T intron_variant LIRI-JP 17 41327618 41327618 single base substitution A G intron_variant LIRI-JP 17 41333119 41333119 single base substitution G A downstream_gene_variant LIRI-JP 17 41333119 41333119 single base substitution G A intron_variant LIRI-JP 17 41334826 41334826 single base substitution G A downstream_gene_variant LIRI-JP 17 41334826 41334826 single base substitution G A intron_variant LIRI-JP 17 41334924 41334924 single base substitution G T downstream_gene_variant LIRI-JP 17 41334924 41334924 single base substitution G T intron_variant LIRI-JP 17 41335523 41335523 single base substitution A C intron_variant LIRI-JP 17 41338998 41338998 single base substitution C T intron_variant LIRI-JP 17 41338998 41338998 single base substitution C T upstream_gene_variant LIRI-JP 17 41339443 41339443 single base substitution C T intron_variant LIRI-JP 17 41339443 41339443 single base substitution C T upstream_gene_variant LIRI-JP 17 41343137 41343137 single base substitution G T intron_variant LIRI-JP 17 41343138 41343138 single base substitution G T intron_variant LIRI-JP 17 41344352 41344352 single base substitution T C intron_variant LIRI-JP 17 41346986 41346986 single base substitution G A exon_variant LIRI-JP 17 41346986 41346986 single base substitution G A synonymous_variant L539L 1617G>A LIRI-JP 17 41346986 41346986 single base substitution G A synonymous_variant L560L 1680G>A LIRI-JP 17 41348348 41348348 single base substitution G A downstream_gene_variant LIRI-JP 17 41348348 41348348 single base substitution G A intron_variant LIRI-JP 17 41349836 41349836 single base substitution T C downstream_gene_variant LIRI-JP 17 41349836 41349836 single base substitution T C intron_variant LIRI-JP 17 41351541 41351541 single base substitution G A downstream_gene_variant LIRI-JP 17 41351541 41351541 single base substitution G A intron_variant LIRI-JP 17 41354278 41354278 single base substitution T C intron_variant LIRI-JP 17 41358580 41358580 single base substitution A C intron_variant LIRI-JP 17 41360946 41360946 single base substitution A G intron_variant LIRI-JP 17 41365053 41365053 single base substitution C T downstream_gene_variant LIRI-JP 17 41365894 41365894 single base substitution C G downstream_gene_variant LIRI-JP 17 41367156 41367156 single base substitution G T downstream_gene_variant LIRI-JP 17 41367356 41367356 single base substitution G A downstream_gene_variant LUSC-KR 17 41321669 41321669 single base substitution C G upstream_gene_variant LUSC-KR 17 41324710 41324710 single base substitution A G intron_variant LUSC-KR 17 41334218 41334218 single base substitution C G downstream_gene_variant LUSC-KR 17 41334218 41334218 single base substitution C G intron_variant LUSC-KR 17 41339100 41339100 single base substitution A T intron_variant LUSC-KR 17 41339100 41339100 single base substitution A T upstream_gene_variant LUSC-KR 17 41339383 41339383 single base substitution G C intron_variant LUSC-KR 17 41339383 41339383 single base substitution G C upstream_gene_variant LUSC-KR 17 41340539 41340539 single base substitution G A intron_variant LUSC-KR 17 41340539 41340539 single base substitution G A upstream_gene_variant LUSC-KR 17 41340702 41340702 single base substitution C T intron_variant LUSC-KR 17 41340702 41340702 single base substitution C T upstream_gene_variant LUSC-KR 17 41344659 41344659 single base substitution G C intron_variant LUSC-KR 17 41346746 41346746 single base substitution C G exon_variant LUSC-KR 17 41346746 41346746 single base substitution C G intron_variant LUSC-KR 17 41352904 41352904 single base substitution G T downstream_gene_variant LUSC-KR 17 41352904 41352904 single base substitution G T intron_variant LUSC-KR 17 41357880 41357880 single base substitution G A intron_variant LUSC-KR 17 41368552 41368552 single base substitution G C downstream_gene_variant LUSC-US 17 41341074 41341074 single base substitution C G missense_variant P119A 355C>G LUSC-US 17 41341074 41341074 single base substitution C G missense_variant P140A 418C>G LUSC-US 17 41341074 41341074 single base substitution C G upstream_gene_variant LUSC-US 17 41341086 41341086 single base substitution G C missense_variant D123H 367G>C LUSC-US 17 41341086 41341086 single base substitution G C missense_variant D144H 430G>C LUSC-US 17 41341086 41341086 single base substitution G C upstream_gene_variant LUSC-US 17 41362019 41362019 single base substitution A T downstream_gene_variant LUSC-US 17 41362019 41362019 single base substitution A T missense_variant N943Y 2827A>T LUSC-US 17 41365217 41365217 single base substitution G A downstream_gene_variant LUSC-US 17 41368482 41368482 single base substitution C T downstream_gene_variant MALY-DE 17 41321687 41321687 single base substitution A G upstream_gene_variant MALY-DE 17 41322443 41322443 single base substitution C T upstream_gene_variant MALY-DE 17 41328065 41328065 single base substitution T C exon_variant MALY-DE 17 41328065 41328065 single base substitution T C intron_variant MALY-DE 17 41336148 41336148 single base substitution A C intron_variant MALY-DE 17 41345440 41345440 single base substitution G A exon_variant MALY-DE 17 41345440 41345440 single base substitution G A missense_variant G416S 1246G>A MALY-DE 17 41345440 41345440 single base substitution G A missense_variant G437S 1309G>A MALY-DE 17 41349263 41349263 single base substitution G A downstream_gene_variant MALY-DE 17 41349263 41349263 single base substitution G A intron_variant MALY-DE 17 41351064 41351064 single base substitution A G downstream_gene_variant MALY-DE 17 41351064 41351064 single base substitution A G intron_variant MALY-DE 17 41359826 41359826 single base substitution G A intron_variant MALY-DE 17 41363667 41363667 single base substitution C A 3_prime_UTR_variant MALY-DE 17 41363667 41363667 single base substitution C A downstream_gene_variant MELA-AU 17 41319309 41319309 single base substitution G A upstream_gene_variant MELA-AU 17 41320239 41320239 single base substitution C T upstream_gene_variant MELA-AU 17 41321156 41321156 single base substitution C A upstream_gene_variant MELA-AU 17 41322183 41322184 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 41322217 41322217 single base substitution G A upstream_gene_variant MELA-AU 17 41322237 41322237 single base substitution T C upstream_gene_variant MELA-AU 17 41322418 41322418 single base substitution A T upstream_gene_variant MELA-AU 17 41322857 41322857 single base substitution C T 5_prime_UTR_variant MELA-AU 17 41322857 41322857 single base substitution C T intron_variant MELA-AU 17 41322857 41322857 single base substitution C T upstream_gene_variant MELA-AU 17 41323090 41323090 single base substitution G A intron_variant MELA-AU 17 41323090 41323090 single base substitution G A upstream_gene_variant MELA-AU 17 41323473 41323473 single base substitution C T intron_variant MELA-AU 17 41324232 41324232 single base substitution T C intron_variant MELA-AU 17 41324652 41324652 single base substitution G A intron_variant MELA-AU 17 41325671 41325671 single base substitution C T intron_variant MELA-AU 17 41327011 41327011 single base substitution G C intron_variant MELA-AU 17 41327245 41327250 deletion of <=200bp GTAAAA - intron_variant MELA-AU 17 41327374 41327374 single base substitution C T intron_variant MELA-AU 17 41329792 41329792 single base substitution C T downstream_gene_variant MELA-AU 17 41329792 41329792 single base substitution C T intron_variant MELA-AU 17 41330059 41330059 single base substitution G A downstream_gene_variant MELA-AU 17 41330059 41330059 single base substitution G A intron_variant MELA-AU 17 41330059 41330059 single base substitution G A splice_donor_variant MELA-AU 17 41330827 41330827 single base substitution C T downstream_gene_variant MELA-AU 17 41330827 41330827 single base substitution C T intron_variant MELA-AU 17 41331456 41331456 single base substitution C T downstream_gene_variant MELA-AU 17 41331456 41331456 single base substitution C T intron_variant MELA-AU 17 41331867 41331868 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 41331867 41331868 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 41331974 41331974 single base substitution G T downstream_gene_variant MELA-AU 17 41331974 41331974 single base substitution G T intron_variant MELA-AU 17 41332093 41332093 single base substitution C T downstream_gene_variant MELA-AU 17 41332093 41332093 single base substitution C T intron_variant MELA-AU 17 41333224 41333224 single base substitution C T downstream_gene_variant MELA-AU 17 41333224 41333224 single base substitution C T intron_variant MELA-AU 17 41333401 41333401 single base substitution A T downstream_gene_variant MELA-AU 17 41333401 41333401 single base substitution A T intron_variant MELA-AU 17 41333520 41333520 single base substitution C T downstream_gene_variant MELA-AU 17 41333520 41333520 single base substitution C T intron_variant MELA-AU 17 41334038 41334039 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 41334038 41334039 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 41334050 41334050 single base substitution C T downstream_gene_variant MELA-AU 17 41334050 41334050 single base substitution C T intron_variant MELA-AU 17 41334519 41334519 single base substitution T G downstream_gene_variant MELA-AU 17 41334519 41334519 single base substitution T G intron_variant MELA-AU 17 41334618 41334618 single base substitution T C downstream_gene_variant MELA-AU 17 41334618 41334618 single base substitution T C intron_variant MELA-AU 17 41335014 41335014 single base substitution C T intron_variant MELA-AU 17 41335103 41335103 single base substitution T C intron_variant MELA-AU 17 41335432 41335432 single base substitution T G intron_variant MELA-AU 17 41336360 41336360 single base substitution C T intron_variant MELA-AU 17 41337275 41337275 single base substitution G C intron_variant MELA-AU 17 41337275 41337275 single base substitution G C upstream_gene_variant MELA-AU 17 41337516 41337516 single base substitution G A intron_variant MELA-AU 17 41337516 41337516 single base substitution G A upstream_gene_variant MELA-AU 17 41338847 41338847 single base substitution C T intron_variant MELA-AU 17 41338847 41338847 single base substitution C T upstream_gene_variant MELA-AU 17 41338958 41338958 single base substitution C T intron_variant MELA-AU 17 41338958 41338958 single base substitution C T upstream_gene_variant MELA-AU 17 41339045 41339045 deletion of <=200bp T - intron_variant MELA-AU 17 41339045 41339045 deletion of <=200bp T - upstream_gene_variant MELA-AU 17 41339184 41339184 single base substitution C T intron_variant MELA-AU 17 41339184 41339184 single base substitution C T upstream_gene_variant MELA-AU 17 41339454 41339454 single base substitution C T intron_variant MELA-AU 17 41339454 41339454 single base substitution C T upstream_gene_variant MELA-AU 17 41340219 41340219 single base substitution C T intron_variant MELA-AU 17 41340219 41340219 single base substitution C T upstream_gene_variant MELA-AU 17 41340356 41340356 single base substitution C T intron_variant MELA-AU 17 41340356 41340356 single base substitution C T upstream_gene_variant MELA-AU 17 41342637 41342637 single base substitution C T exon_variant MELA-AU 17 41342637 41342637 single base substitution C T missense_variant S215F 644C>T MELA-AU 17 41342637 41342637 single base substitution C T missense_variant S236F 707C>T MELA-AU 17 41343018 41343018 single base substitution C T intron_variant MELA-AU 17 41343524 41343524 single base substitution T C exon_variant MELA-AU 17 41343524 41343524 single base substitution T C synonymous_variant N312N 936T>C MELA-AU 17 41343524 41343524 single base substitution T C synonymous_variant N333N 999T>C MELA-AU 17 41343547 41343548 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 41343547 41343548 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P320L 959CC>TT MELA-AU 17 41343547 41343548 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P341L 1022CC>TT MELA-AU 17 41343555 41343555 single base substitution C T exon_variant MELA-AU 17 41343555 41343555 single base substitution C T missense_variant P323S 967C>T MELA-AU 17 41343555 41343555 single base substitution C T missense_variant P344S 1030C>T MELA-AU 17 41343556 41343556 single base substitution C T exon_variant MELA-AU 17 41343556 41343556 single base substitution C T missense_variant P323L 968C>T MELA-AU 17 41343556 41343556 single base substitution C T missense_variant P344L 1031C>T MELA-AU 17 41344337 41344337 single base substitution C T intron_variant MELA-AU 17 41345103 41345103 single base substitution C T splice_region_variant MELA-AU 17 41345134 41345134 single base substitution C T exon_variant MELA-AU 17 41345134 41345134 single base substitution C T missense_variant S345F 1034C>T MELA-AU 17 41345134 41345134 single base substitution C T missense_variant S366F 1097C>T MELA-AU 17 41345817 41345817 single base substitution C T intron_variant MELA-AU 17 41346290 41346290 single base substitution T A intron_variant MELA-AU 17 41346490 41346490 single base substitution C T exon_variant MELA-AU 17 41346490 41346490 single base substitution C T missense_variant P529S 1585C>T MELA-AU 17 41346490 41346490 single base substitution C T missense_variant P550S 1648C>T MELA-AU 17 41346829 41346829 single base substitution C T exon_variant MELA-AU 17 41346829 41346829 single base substitution C T intron_variant MELA-AU 17 41347076 41347076 single base substitution C T exon_variant MELA-AU 17 41347076 41347076 single base substitution C T intron_variant MELA-AU 17 41347174 41347174 single base substitution A G exon_variant MELA-AU 17 41347174 41347174 single base substitution A G intron_variant MELA-AU 17 41347267 41347267 single base substitution C T exon_variant MELA-AU 17 41347267 41347267 single base substitution C T intron_variant MELA-AU 17 41347431 41347431 single base substitution G A exon_variant MELA-AU 17 41347431 41347431 single base substitution G A intron_variant MELA-AU 17 41347500 41347500 single base substitution C T exon_variant MELA-AU 17 41347500 41347500 single base substitution C T intron_variant MELA-AU 17 41347775 41347775 single base substitution C T exon_variant MELA-AU 17 41347775 41347775 single base substitution C T intron_variant MELA-AU 17 41349018 41349018 single base substitution G A downstream_gene_variant MELA-AU 17 41349018 41349018 single base substitution G A missense_variant E620K 1858G>A MELA-AU 17 41349018 41349018 single base substitution G A missense_variant E641K 1921G>A MELA-AU 17 41349070 41349070 single base substitution C T downstream_gene_variant MELA-AU 17 41349070 41349070 single base substitution C T missense_variant T637I 1910C>T MELA-AU 17 41349070 41349070 single base substitution C T missense_variant T658I 1973C>T MELA-AU 17 41349799 41349800 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 41349799 41349800 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 41350317 41350317 single base substitution C T downstream_gene_variant MELA-AU 17 41350317 41350317 single base substitution C T intron_variant MELA-AU 17 41350802 41350802 single base substitution C T downstream_gene_variant MELA-AU 17 41350802 41350802 single base substitution C T intron_variant MELA-AU 17 41351118 41351118 single base substitution T A downstream_gene_variant MELA-AU 17 41351118 41351118 single base substitution T A intron_variant MELA-AU 17 41351747 41351747 single base substitution C T downstream_gene_variant MELA-AU 17 41351747 41351747 single base substitution C T intron_variant MELA-AU 17 41352392 41352393 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 41352392 41352393 multiple base substitution (>=2bp and <=200bp) CC TT synonymous_variant PL724 MELA-AU 17 41352392 41352393 multiple base substitution (>=2bp and <=200bp) CC TT synonymous_variant PL745 MELA-AU 17 41353227 41353228 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 41353228 41353228 single base substitution C T intron_variant MELA-AU 17 41353509 41353509 single base substitution T C intron_variant MELA-AU 17 41353561 41353561 single base substitution C T intron_variant MELA-AU 17 41353710 41353710 single base substitution C T missense_variant P805S 2413C>T MELA-AU 17 41353710 41353710 single base substitution C T missense_variant P826S 2476C>T MELA-AU 17 41353877 41353877 single base substitution C T intron_variant MELA-AU 17 41353976 41353976 single base substitution C T intron_variant MELA-AU 17 41354503 41354503 single base substitution T C intron_variant MELA-AU 17 41355352 41355352 single base substitution C T intron_variant MELA-AU 17 41356490 41356490 single base substitution C T intron_variant MELA-AU 17 41356891 41356891 single base substitution C T intron_variant MELA-AU 17 41356982 41356982 single base substitution G A intron_variant MELA-AU 17 41357256 41357256 single base substitution C T intron_variant MELA-AU 17 41357579 41357579 single base substitution C T intron_variant MELA-AU 17 41358121 41358121 single base substitution G T intron_variant MELA-AU 17 41358426 41358426 single base substitution C T intron_variant MELA-AU 17 41358693 41358693 single base substitution C T intron_variant MELA-AU 17 41360757 41360757 single base substitution C A intron_variant MELA-AU 17 41363232 41363232 single base substitution C T 3_prime_UTR_variant MELA-AU 17 41363232 41363232 single base substitution C T downstream_gene_variant MELA-AU 17 41363639 41363639 single base substitution C T 3_prime_UTR_variant MELA-AU 17 41363639 41363639 single base substitution C T downstream_gene_variant MELA-AU 17 41363705 41363705 single base substitution C T 3_prime_UTR_variant MELA-AU 17 41363705 41363705 single base substitution C T downstream_gene_variant MELA-AU 17 41364508 41364508 single base substitution C T downstream_gene_variant MELA-AU 17 41364525 41364525 single base substitution C T downstream_gene_variant MELA-AU 17 41364762 41364762 single base substitution T A downstream_gene_variant MELA-AU 17 41365191 41365191 single base substitution C T downstream_gene_variant MELA-AU 17 41365228 41365228 single base substitution C T downstream_gene_variant MELA-AU 17 41365355 41365355 single base substitution C T downstream_gene_variant MELA-AU 17 41365535 41365535 single base substitution C T downstream_gene_variant MELA-AU 17 41365712 41365712 single base substitution C T downstream_gene_variant MELA-AU 17 41366002 41366002 single base substitution C T downstream_gene_variant MELA-AU 17 41366612 41366612 single base substitution C T downstream_gene_variant MELA-AU 17 41367013 41367013 single base substitution C T downstream_gene_variant MELA-AU 17 41368449 41368449 single base substitution C T downstream_gene_variant MELA-AU 17 41368524 41368524 single base substitution C T downstream_gene_variant MELA-AU 17 41368578 41368578 single base substitution C A downstream_gene_variant MELA-AU 17 41368616 41368616 single base substitution C T downstream_gene_variant ORCA-IN 17 41329593 41329593 single base substitution C A downstream_gene_variant ORCA-IN 17 41329593 41329593 single base substitution C A intron_variant ORCA-IN 17 41329599 41329599 single base substitution C A downstream_gene_variant ORCA-IN 17 41329599 41329599 single base substitution C A intron_variant ORCA-IN 17 41330396 41330396 deletion of <=200bp C - downstream_gene_variant ORCA-IN 17 41330396 41330396 deletion of <=200bp C - intron_variant ORCA-IN 17 41341805 41341805 single base substitution C A synonymous_variant V206V 618C>A ORCA-IN 17 41341805 41341805 single base substitution C A synonymous_variant V227V 681C>A ORCA-IN 17 41341805 41341805 single base substitution C A upstream_gene_variant ORCA-IN 17 41360905 41360905 single base substitution G T intron_variant ORCA-IN 17 41367206 41367206 single base substitution G C downstream_gene_variant ORCA-IN 17 41368597 41368597 single base substitution G T downstream_gene_variant OV-AU 17 41318149 41318149 single base substitution C G upstream_gene_variant OV-AU 17 41319726 41319726 single base substitution G C upstream_gene_variant OV-AU 17 41322977 41322977 single base substitution G A intron_variant OV-AU 17 41322977 41322977 single base substitution G A upstream_gene_variant OV-AU 17 41330861 41330861 single base substitution C A downstream_gene_variant OV-AU 17 41330861 41330861 single base substitution C A intron_variant OV-AU 17 41336291 41336291 single base substitution G A intron_variant OV-AU 17 41349191 41349191 single base substitution G C downstream_gene_variant OV-AU 17 41349191 41349191 single base substitution G C intron_variant OV-AU 17 41355233 41355233 single base substitution T A intron_variant OV-AU 17 41367167 41367167 single base substitution C G downstream_gene_variant PACA-AU 17 41321085 41321085 single base substitution G C upstream_gene_variant PACA-AU 17 41321890 41321890 deletion of <=200bp T - upstream_gene_variant PACA-AU 17 41333513 41333513 single base substitution C A downstream_gene_variant PACA-AU 17 41333513 41333513 single base substitution C A intron_variant PACA-AU 17 41337302 41337302 single base substitution A T intron_variant PACA-AU 17 41337302 41337302 single base substitution A T upstream_gene_variant PACA-AU 17 41340721 41340721 single base substitution T C intron_variant PACA-AU 17 41340721 41340721 single base substitution T C upstream_gene_variant PACA-AU 17 41343871 41343871 single base substitution G T intron_variant PACA-AU 17 41343872 41343872 single base substitution G T intron_variant PACA-AU 17 41345377 41345377 single base substitution T G exon_variant PACA-AU 17 41345377 41345377 single base substitution T G missense_variant W395G 1183T>G PACA-AU 17 41345377 41345377 single base substitution T G missense_variant W416G 1246T>G PACA-AU 17 41348579 41348579 single base substitution A T downstream_gene_variant PACA-AU 17 41348579 41348579 single base substitution A T missense_variant N590I 1769A>T PACA-AU 17 41348579 41348579 single base substitution A T missense_variant N611I 1832A>T PACA-AU 17 41362783 41362783 single base substitution C A 3_prime_UTR_variant PACA-AU 17 41362783 41362783 single base substitution C A downstream_gene_variant PACA-CA 17 41321708 41321719 deletion of <=200bp CACTTTCCCCCG - upstream_gene_variant PACA-CA 17 41323600 41323600 single base substitution G A intron_variant PACA-CA 17 41324085 41324085 single base substitution C A intron_variant PACA-CA 17 41325473 41325473 single base substitution T G intron_variant PACA-CA 17 41327153 41327153 single base substitution A T intron_variant PACA-CA 17 41331844 41331844 single base substitution T A downstream_gene_variant PACA-CA 17 41331844 41331844 single base substitution T A intron_variant PACA-CA 17 41333061 41333061 single base substitution T C downstream_gene_variant PACA-CA 17 41333061 41333061 single base substitution T C intron_variant PACA-CA 17 41333190 41333190 single base substitution A T downstream_gene_variant PACA-CA 17 41333190 41333190 single base substitution A T intron_variant PACA-CA 17 41333685 41333685 insertion of <=200bp - A downstream_gene_variant PACA-CA 17 41333685 41333685 insertion of <=200bp - A intron_variant PACA-CA 17 41335602 41335602 single base substitution A C intron_variant PACA-CA 17 41338309 41338309 single base substitution G A missense_variant E63K 187G>A PACA-CA 17 41338309 41338309 single base substitution G A missense_variant E84K 250G>A PACA-CA 17 41338309 41338309 single base substitution G A upstream_gene_variant PACA-CA 17 41342515 41342515 single base substitution A C exon_variant PACA-CA 17 41342515 41342515 single base substitution A C intron_variant PACA-CA 17 41343105 41343105 insertion of <=200bp - A intron_variant PACA-CA 17 41343958 41343958 single base substitution C T intron_variant PACA-CA 17 41344676 41344676 single base substitution G A intron_variant PACA-CA 17 41345378 41345378 single base substitution G A exon_variant PACA-CA 17 41345378 41345378 single base substitution G A stop_gained W395* 1184G>A PACA-CA 17 41345378 41345378 single base substitution G A stop_gained W416* 1247G>A PACA-CA 17 41351169 41351169 single base substitution G A downstream_gene_variant PACA-CA 17 41351169 41351169 single base substitution G A intron_variant PACA-CA 17 41353924 41353924 single base substitution T A intron_variant PACA-CA 17 41354833 41354833 single base substitution G C intron_variant PACA-CA 17 41354854 41354854 single base substitution G A intron_variant PACA-CA 17 41356122 41356122 single base substitution T C intron_variant PACA-CA 17 41358204 41358204 single base substitution A G intron_variant PACA-CA 17 41358500 41358500 single base substitution C G intron_variant PACA-CA 17 41358918 41358918 insertion of <=200bp - A intron_variant PACA-CA 17 41359336 41359336 single base substitution A C intron_variant PACA-CA 17 41359787 41359787 single base substitution G A intron_variant PACA-CA 17 41361114 41361114 single base substitution G T intron_variant PACA-CA 17 41361638 41361638 single base substitution G A intron_variant PACA-CA 17 41361638 41361638 single base substitution G A synonymous_variant P930P 2790G>A PACA-CA 17 41366685 41366685 single base substitution A G downstream_gene_variant PACA-CA 17 41367270 41367270 single base substitution G A downstream_gene_variant PAEN-AU 17 41343270 41343270 single base substitution C G intron_variant PAEN-AU 17 41355128 41355128 single base substitution G A intron_variant PAEN-AU 17 41362939 41362939 single base substitution A G 3_prime_UTR_variant PAEN-AU 17 41362939 41362939 single base substitution A G downstream_gene_variant PAEN-IT 17 41348240 41348240 single base substitution C A downstream_gene_variant PAEN-IT 17 41348240 41348240 single base substitution C A intron_variant PAEN-IT 17 41360704 41360704 single base substitution G T intron_variant PBCA-DE 17 41323989 41323989 single base substitution C A intron_variant PBCA-DE 17 41358859 41358859 single base substitution A G intron_variant PBCA-DE 17 41358863 41358863 single base substitution C T intron_variant PRAD-CA 17 41318173 41318173 single base substitution C G upstream_gene_variant PRAD-CA 17 41319707 41319707 single base substitution C A upstream_gene_variant PRAD-CA 17 41325388 41325388 single base substitution C G intron_variant PRAD-CA 17 41330396 41330396 single base substitution C T downstream_gene_variant PRAD-CA 17 41330396 41330396 single base substitution C T intron_variant PRAD-CA 17 41351555 41351555 single base substitution G T downstream_gene_variant PRAD-CA 17 41351555 41351555 single base substitution G T intron_variant PRAD-CA 17 41361899 41361899 single base substitution G T downstream_gene_variant PRAD-CA 17 41361899 41361899 single base substitution G T intron_variant PRAD-UK 17 41326073 41326073 single base substitution A G intron_variant PRAD-UK 17 41327074 41327074 single base substitution C T intron_variant PRAD-UK 17 41358932 41358932 deletion of <=200bp A - intron_variant READ-US 17 41365203 41365203 single base substitution G C downstream_gene_variant RECA-EU 17 41330395 41330395 single base substitution T C downstream_gene_variant RECA-EU 17 41330395 41330395 single base substitution T C intron_variant RECA-EU 17 41340506 41340506 single base substitution T A intron_variant RECA-EU 17 41340506 41340506 single base substitution T A upstream_gene_variant RECA-EU 17 41344131 41344131 single base substitution G A intron_variant RECA-EU 17 41351337 41351337 single base substitution C T downstream_gene_variant RECA-EU 17 41351337 41351337 single base substitution C T intron_variant RECA-EU 17 41366232 41366232 single base substitution A G downstream_gene_variant SKCA-BR 17 41318142 41318142 insertion of <=200bp - CCT upstream_gene_variant SKCA-BR 17 41318149 41318149 insertion of <=200bp - CTG upstream_gene_variant SKCA-BR 17 41318157 41318157 single base substitution G C upstream_gene_variant SKCA-BR 17 41323005 41323005 single base substitution G A intron_variant SKCA-BR 17 41323005 41323005 single base substitution G A upstream_gene_variant SKCA-BR 17 41323017 41323017 single base substitution C T intron_variant SKCA-BR 17 41323017 41323017 single base substitution C T upstream_gene_variant SKCA-BR 17 41324412 41324412 single base substitution C T intron_variant SKCA-BR 17 41325490 41325490 single base substitution G A intron_variant SKCA-BR 17 41329288 41329288 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 17 41329288 41329288 insertion of <=200bp - CA intron_variant SKCA-BR 17 41330383 41330384 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 17 41330383 41330384 deletion of <=200bp CT - intron_variant SKCA-BR 17 41334749 41334749 single base substitution C T downstream_gene_variant SKCA-BR 17 41334749 41334749 single base substitution C T intron_variant SKCA-BR 17 41339903 41339904 deletion of <=200bp CT - intron_variant SKCA-BR 17 41339903 41339904 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 17 41347611 41347611 single base substitution T G exon_variant SKCA-BR 17 41347611 41347611 single base substitution T G intron_variant SKCA-BR 17 41349401 41349401 single base substitution T G downstream_gene_variant SKCA-BR 17 41349401 41349401 single base substitution T G intron_variant SKCA-BR 17 41349994 41349994 single base substitution C A downstream_gene_variant SKCA-BR 17 41349994 41349994 single base substitution C A intron_variant SKCA-BR 17 41354540 41354540 insertion of <=200bp - TA intron_variant SKCA-BR 17 41358152 41358152 single base substitution G A intron_variant SKCA-BR 17 41363822 41363822 single base substitution T G downstream_gene_variant SKCA-BR 17 41364540 41364540 single base substitution A C downstream_gene_variant SKCA-BR 17 41365044 41365044 single base substitution A C downstream_gene_variant SKCA-BR 17 41366229 41366237 deletion of <=200bp AAAAAAAAG - downstream_gene_variant SKCA-BR 17 41366994 41366994 single base substitution C A downstream_gene_variant SKCM-US 17 41341632 41341632 single base substitution G A missense_variant V149I 445G>A SKCM-US 17 41341632 41341632 single base substitution G A missense_variant V170I 508G>A SKCM-US 17 41341632 41341632 single base substitution G A upstream_gene_variant SKCM-US 17 41341698 41341698 single base substitution C T missense_variant P171S 511C>T SKCM-US 17 41341698 41341698 single base substitution C T missense_variant P192S 574C>T SKCM-US 17 41341698 41341698 single base substitution C T upstream_gene_variant SKCM-US 17 41341720 41341720 single base substitution C T missense_variant T178I 533C>T SKCM-US 17 41341720 41341720 single base substitution C T missense_variant T199I 596C>T SKCM-US 17 41341720 41341720 single base substitution C T upstream_gene_variant SKCM-US 17 41342735 41342735 single base substitution C T exon_variant SKCM-US 17 41342735 41342735 single base substitution C T missense_variant P248S 742C>T SKCM-US 17 41342735 41342735 single base substitution C T missense_variant P269S 805C>T SKCM-US 17 41343492 41343492 single base substitution C T exon_variant SKCM-US 17 41343492 41343492 single base substitution C T missense_variant L302F 904C>T SKCM-US 17 41343492 41343492 single base substitution C T missense_variant L323F 967C>T SKCM-US 17 41343555 41343555 single base substitution C T exon_variant SKCM-US 17 41343555 41343555 single base substitution C T missense_variant P323S 967C>T SKCM-US 17 41343555 41343555 single base substitution C T missense_variant P344S 1030C>T SKCM-US 17 41345501 41345501 single base substitution C T exon_variant SKCM-US 17 41345501 41345501 single base substitution C T missense_variant S436F 1307C>T SKCM-US 17 41345501 41345501 single base substitution C T missense_variant S457F 1370C>T SKCM-US 17 41345540 41345540 single base substitution C T exon_variant SKCM-US 17 41345540 41345540 single base substitution C T missense_variant P449L 1346C>T SKCM-US 17 41345540 41345540 single base substitution C T missense_variant P470L 1409C>T SKCM-US 17 41345575 41345575 single base substitution C T exon_variant SKCM-US 17 41345575 41345575 single base substitution C T missense_variant P461S 1381C>T SKCM-US 17 41345575 41345575 single base substitution C T missense_variant P482S 1444C>T SKCM-US 17 41346379 41346379 single base substitution C T exon_variant SKCM-US 17 41346379 41346379 single base substitution C T synonymous_variant L492L 1474C>T SKCM-US 17 41346379 41346379 single base substitution C T synonymous_variant L513L 1537C>T SKCM-US 17 41346489 41346489 single base substitution C T exon_variant SKCM-US 17 41346489 41346489 single base substitution C T synonymous_variant I528I 1584C>T SKCM-US 17 41346489 41346489 single base substitution C T synonymous_variant I549I 1647C>T SKCM-US 17 41349035 41349035 single base substitution C T downstream_gene_variant SKCM-US 17 41349035 41349035 single base substitution C T synonymous_variant T625T 1875C>T SKCM-US 17 41349035 41349035 single base substitution C T synonymous_variant T646T 1938C>T SKCM-US 17 41365228 41365228 single base substitution C T downstream_gene_variant STAD-US 17 41341640 41341640 single base substitution G A synonymous_variant K151K 453G>A STAD-US 17 41341640 41341640 single base substitution G A synonymous_variant K172K 516G>A STAD-US 17 41341640 41341640 single base substitution G A upstream_gene_variant STAD-US 17 41343459 41343459 single base substitution C T exon_variant STAD-US 17 41343459 41343459 single base substitution C T missense_variant R291C 871C>T STAD-US 17 41343459 41343459 single base substitution C T missense_variant R312C 934C>T STAD-US 17 41345126 41345126 single base substitution C A exon_variant STAD-US 17 41345126 41345126 single base substitution C A synonymous_variant P342P 1026C>A STAD-US 17 41345126 41345126 single base substitution C A synonymous_variant P363P 1089C>A STAD-US 17 41345516 41345516 single base substitution C T exon_variant STAD-US 17 41345516 41345516 single base substitution C T missense_variant S441F 1322C>T STAD-US 17 41345516 41345516 single base substitution C T missense_variant S462F 1385C>T STAD-US 17 41368528 41368528 single base substitution G A downstream_gene_variant THCA-SA 17 41361960 41361960 single base substitution A G 3_prime_UTR_variant THCA-SA 17 41361960 41361960 single base substitution A G downstream_gene_variant THCA-SA 17 41361960 41361960 single base substitution A G missense_variant H923R 2768A>G THCA-US 17 41342634 41342634 single base substitution C T exon_variant THCA-US 17 41342634 41342634 single base substitution C T missense_variant P214L 641C>T THCA-US 17 41342634 41342634 single base substitution C T missense_variant P235L 704C>T UCEC-US 17 41338323 41338323 single base substitution C T synonymous_variant V67V 201C>T UCEC-US 17 41338323 41338323 single base substitution C T synonymous_variant V88V 264C>T UCEC-US 17 41338323 41338323 single base substitution C T upstream_gene_variant UCEC-US 17 41341820 41341820 single base substitution G A splice_donor_variant UCEC-US 17 41341820 41341820 single base substitution G A upstream_gene_variant UCEC-US 17 41342673 41342673 single base substitution A G exon_variant UCEC-US 17 41342673 41342673 single base substitution A G missense_variant Y227C 680A>G UCEC-US 17 41342673 41342673 single base substitution A G missense_variant Y248C 743A>G UCEC-US 17 41343476 41343476 single base substitution G T exon_variant UCEC-US 17 41343476 41343476 single base substitution G T missense_variant K296N 888G>T UCEC-US 17 41343476 41343476 single base substitution G T missense_variant K317N 951G>T UCEC-US 17 41345171 41345171 single base substitution G T exon_variant UCEC-US 17 41345171 41345171 single base substitution G T missense_variant E357D 1071G>T UCEC-US 17 41345171 41345171 single base substitution G T missense_variant E378D 1134G>T UCEC-US 17 41348511 41348511 single base substitution C T downstream_gene_variant UCEC-US 17 41348511 41348511 single base substitution C T synonymous_variant C567C 1701C>T UCEC-US 17 41348511 41348511 single base substitution C T synonymous_variant C588C 1764C>T UCEC-US 17 41362052 41362052 single base substitution C A downstream_gene_variant UCEC-US 17 41362052 41362052 single base substitution C A missense_variant L954I 2860C>A UCEC-US 17 41365910 41365910 single base substitution C T downstream_gene_variant UCEC-US 17 41367829 41367829 single base substitution G A downstream_gene_variant UCEC-US 17 41367938 41367938 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587342 COSM1216744 c.2399C>T p.T800M Substitution - Missense 17:43200539-43200539 + PTC-6C COSM4130114 c.2363A>C p.N788T Substitution - Missense 17:43200503-43200503 + HCC030T COSM5815866 c.2529A>G p.P843P Substitution - coding silent 17:43201746-43201746 + TCGA-CM-6674-01 COSM3686127 c.1558_1559insT p.G521fs*2 Insertion - Frameshift 17:43194383-43194384 + TCGA-CZ-5461-01 COSM472854 c.988C>T p.H330Y Substitution - Missense 17:43191496-43191496 + CR007 COSM4994613 c.2486A>G p.H829R Substitution - Missense 17:43201703-43201703 + ESCC_54 COSM3190192 c.818C>G p.S273* Substitution - Nonsense 17:43190731-43190731 + ESCC_8 COSM5623464 c.214G>A p.V72I Substitution - Missense 17:43186256-43186256 + PD14433a COSM5773589 c.2728-6A>G p.? Unknown 17:43209895-43209895 + NOKSI COSM4130114 c.2363A>C p.N788T Substitution - Missense 17:43200503-43200503 + 587376 COSM1216747 c.1706A>G p.N569S Substitution - Missense 17:43194995-43194995 + sysucc-1317T COSM5448989 c.696-1G>A p.? Unknown 17:43190608-43190608 + ATL033 COSM5706410 c.2727+1G>C p.? Unknown 17:43203787-43203787 + TCGA-BH-A0HX-01 COSM5833304 c.2660_2661insG p.A889fs*26 Insertion - Frameshift 17:43203719-43203720 + OSCC-GB_00270111 COSM3712327 c.681C>A p.V227V Substitution - coding silent 17:43189788-43189788 + C547 COSM4442410 c.779G>A p.R260Q Substitution - Missense 17:43190692-43190692 + TCGA-BT-A20T-01 COSM417503 c.2672C>T p.S891F Substitution - Missense 17:43203731-43203731 + ESCC_95 COSM5637496 c.2078T>C p.I693T Substitution - Missense 17:43200218-43200218 + CSCC-62-T COSM4481724 c.2537C>T p.S846F Substitution - Missense 17:43201754-43201754 + STC232 COSM5055500 c.11A>G p.Q4R Substitution - Missense 17:43175810-43175810 + TCGA-BS-A0UJ-01 COSM979754 c.743A>G p.Y248C Substitution - Missense 17:43190656-43190656 + TCGA-EE-A3J7-06 COSM3889732 c.1938C>T p.T646T Substitution - coding silent 17:43197018-43197018 + PT36 COSM5916611 c.1312C>T p.H438Y Substitution - Missense 17:43193426-43193426 + TCGA-AB-2911-03 COSM1318493 c.935G>A p.R312H Substitution - Missense 17:43191443-43191443 + ESCC_BICR_023T COSM5436385 c.456C>A p.D152E Substitution - Missense 17:43189095-43189095 + TCGA-BL-A0C8-01 COSM417504 c.814C>G p.H272D Substitution - Missense 17:43190727-43190727 + TCGA-ER-A19F-06 COSM3517903 c.967C>T p.L323F Substitution - Missense 17:43191475-43191475 + LUAD-NYU184 COSM370780 c.62C>G p.S21C Substitution - Missense 17:43175861-43175861 + TCGA-DK-A3IS-01 COSM1302871 c.1194G>A p.M398I Substitution - Missense 17:43193214-43193214 + TCGA-HU-A4G9-01 COSM4066778 c.1385C>T p.S462F Substitution - Missense 17:43193499-43193499 + TARGET-30-PASVRU COSM1286501 c.2354G>T p.G785V Substitution - Missense 17:43200494-43200494 + 587342 COSM1216743 c.1674G>T p.Q558H Substitution - Missense 17:43194499-43194499 + SNUH_G76_S1 COSM148281 c.165+9T>C p.? Unknown 17:43178007-43178007 + TCGA-AN-A0XW-01 COSM436672 c.2900G>A p.*967* Substitution - coding silent 17:43210073-43210073 + TCGA-FW-A3R5-06 COSM3889728 c.805C>T p.P269S Substitution - Missense 17:43190718-43190718 + TCGA-AP-A051-01 COSM979753 c.695+1G>A p.? Unknown 17:43189803-43189803 + TCGA-AP-A056-01 COSM979752 c.264C>T p.V88V Substitution - coding silent 17:43186306-43186306 + TCGA-BS-A0UF-01 COSM979756 c.1134G>T p.E378D Substitution - Missense 17:43193154-43193154 + WSU-HN6 COSM4130114 c.2363A>C p.N788T Substitution - Missense 17:43200503-43200503 + YUKAT COSM5386425 c.2013G>A p.Q671Q Substitution - coding silent 17:43197093-43197093 + BN34T COSM1610304 c.2351C>T p.P784L Substitution - Missense 17:43200491-43200491 + TCGA-D3-A2JA-06 COSM3517907 c.1409C>T p.P470L Substitution - Missense 17:43193523-43193523 + TCGA-ER-A19E-06 COSM3517901 c.596C>T p.T199I Substitution - Missense 17:43189703-43189703 + HCC097T COSM5816458 c.2694G>T p.K898N Substitution - Missense 17:43203753-43203753 + TCGA-GV-A3JV-01 COSM1302870 c.1003A>T p.I335F Substitution - Missense 17:43191511-43191511 + TCGA-B1-A656-01 COSM4414010 c.914T>C p.L305S Substitution - Missense 17:43191422-43191422 + 587234 COSM1216746 c.1039C>T p.R347* Substitution - Nonsense 17:43191547-43191547 + H650 COSM1194547 c.2500C>T p.P834S Substitution - Missense 17:43201717-43201717 + T368 COSM4705758 c.1892A>C p.E631A Substitution - Missense 17:43196972-43196972 + TCGA-F1-6874-01 COSM4066772 c.516G>A p.K172K Substitution - coding silent 17:43189623-43189623 + CSCC-27-T COSM4475627 c.2003C>T p.P668L Substitution - Missense 17:43197083-43197083 + SS6003320 COSM3980272 c.2707G>A p.G903R Substitution - Missense 17:43203766-43203766 + 8069446 COSM3772927 c.1832A>T p.N611I Substitution - Missense 17:43196562-43196562 + TCGA-BS-A0UF-01 COSM979758 c.2860C>A p.L954I Substitution - Missense 17:43210033-43210033 + tumor_4102009 COSM3356922 c.1309G>A p.G437S Substitution - Missense 17:43193423-43193423 + TCGA-BT-A20R-01 COSM1302868 c.133C>G p.Q45E Substitution - Missense 17:43177966-43177966 + TCGA-CJ-4885-01 COSM344536 c.1236C>G p.L412L Substitution - coding silent 17:43193350-43193350 + BN34 COSM1610304 c.2351C>T p.P784L Substitution - Missense 17:43200491-43200491 + S02385 COSM3190195 c.1040G>A p.R347Q Substitution - Missense 17:43191548-43191548 + ASHPC_0030_Pa_P COSM4962703 c.1247G>A p.W416* Substitution - Nonsense 17:43193361-43193361 + ME029T COSM226801 c.128C>G p.T43S Substitution - Missense 17:43177961-43177961 + ME024T COSM226341 c.820A>G p.K274E Substitution - Missense 17:43190733-43190733 + TCGA-D3-A2JH-06 COSM3517897 c.508G>A p.V170I Substitution - Missense 17:43189615-43189615 + TCGA-DK-A2I2-01 COSM1302869 c.174C>G p.I58M Substitution - Missense 17:43179402-43179402 + LUAD-YINHD COSM349335 c.2817G>A p.L939L Substitution - coding silent 17:43209990-43209990 + CSCC-38-T COSM3517909 c.1444C>T p.P482S Substitution - Missense 17:43193558-43193558 + CSCC-7-T COSM4458739 c.1097C>T p.S366F Substitution - Missense 17:43193117-43193117 + TCGA-BH-A1FN-01 COSM1479617 c.1951G>T p.E651* Substitution - Nonsense 17:43197031-43197031 + TCGA-43-2578-01 COSM706213 c.2827A>T p.N943Y Substitution - Missense 17:43210000-43210000 + TCGA-DR-A0ZM-01 COSM460322 c.1278G>C p.K426N Substitution - Missense 17:43193392-43193392 + TCGA-BR-8591-01 COSM4066776 c.1089C>A p.P363P Substitution - coding silent 17:43193109-43193109 + TCGA-AP-A051-01 COSM979757 c.1764C>T p.C588C Substitution - coding silent 17:43196494-43196494 + TCGA-BT-A20T-01 COSM417502 c.2684C>T p.S895F Substitution - Missense 17:43203743-43203743 + CSCC-7-T COSM4480372 c.2413C>T p.L805L Substitution - coding silent 17:43200553-43200553 + HCC71 COSM1610303 c.1751-1G>A p.? Unknown 17:43196480-43196480 + LS180 COSM3190187 c.610T>C p.L204L Substitution - coding silent 17:43189717-43189717 + TCGA-UB-A7MB-01 COSM4932846 c.2437G>C p.E813Q Substitution - Missense 17:43200577-43200577 + TCGA-BF-A3DM-01 COSM3889730 c.1370C>T p.S457F Substitution - Missense 17:43193484-43193484 + WSU-HN12 COSM4130114 c.2363A>C p.N788T Substitution - Missense 17:43200503-43200503 + TCGA-FS-A1ZK-06 COSM3517899 c.574C>T p.P192S Substitution - Missense 17:43189681-43189681 + NCHP_DIPG061 COSM4746210 c.1485C>G p.I495M Substitution - Missense 17:43193599-43193599 + S01563 COSM5669968 c.2757C>T p.A919A Substitution - coding silent 17:43209930-43209930 + LUAD-B02594 COSM336514 c.1142C>A p.P381H Substitution - Missense 17:43193162-43193162 + MZ7-mel COSM27215 c.1191G>A p.R397R Substitution - coding silent 17:43193211-43193211 + SC_9047 COSM5557466 c.2198T>C p.I733T Substitution - Missense 17:43200338-43200338 + pfg144T COSM4753561 c.118G>A p.D40N Substitution - Missense 17:43177951-43177951 + UM-SCC-2 COSM4130114 c.2363A>C p.N788T Substitution - Missense 17:43200503-43200503 + TCGA-CZ-4859-01 COSM472853 c.502G>A p.E168K Substitution - Missense 17:43189609-43189609 + WSU-HN13 COSM4130114 c.2363A>C p.N788T Substitution - Missense 17:43200503-43200503 + SNU-C2B COSM3190229 c.2888G>A p.S963N Substitution - Missense 17:43210061-43210061 + 8047893 COSM3772925 c.1246T>G p.W416G Substitution - Missense 17:43193360-43193360 + TCGA-DK-A2I4-01 COSM1286501 c.2354G>T p.G785V Substitution - Missense 17:43200494-43200494 + HCC151T COSM3717394 c.1753G>T p.V585L Substitution - Missense 17:43196483-43196483 + COLO205 COSM3190228 c.2877C>T p.N959N Substitution - coding silent 17:43210050-43210050 + ESO-175 COSM1258768 c.974T>C p.L325P Substitution - Missense 17:43191482-43191482 + TCGA-CK-5913-01 COSM1383539 c.2232delC p.L746fs*50 Deletion - Frameshift 17:43200372-43200372 + TCGA-DK-A3X1-01 COSM3795653 c.525G>A p.Q175Q Substitution - coding silent 17:43189632-43189632 + HCC71T COSM1610303 c.1751-1G>A p.? Unknown 17:43196480-43196480 + CSCC-41-T COSM4481290 c.2498C>T p.S833F Substitution - Missense 17:43201715-43201715 + PT52 COSM5940719 c.403-4C>T p.? Unknown 17:43189038-43189038 + TCGA-CA-6718-01 COSM1383534 c.952G>T p.E318* Substitution - Nonsense 17:43191460-43191460 + PD5934a COSM5771845 c.1424G>C p.S475T Substitution - Missense 17:43193538-43193538 + UM-SCC-17B COSM4130114 c.2363A>C p.N788T Substitution - Missense 17:43200503-43200503 + TCGA-37-5819-01 COSM706216 c.430G>C p.D144H Substitution - Missense 17:43189069-43189069 + CAL33 COSM4130114 c.2363A>C p.N788T Substitution - Missense 17:43200503-43200503 + HN_62740 COSM124681 c.2459C>T p.S820L Substitution - Missense 17:43200599-43200599 + TCGA-BR-4362-01 COSM4066774 c.934C>T p.R312C Substitution - Missense 17:43191442-43191442 + CN-AML-CR-39-Dx COSM3755570 c.2768A>G p.H923R Substitution - Missense 17:43209941-43209941 + TCGA-B0-5702-01 COSM472855 c.1396C>A p.Q466K Substitution - Missense 17:43193510-43193510 + TCGA-G3-A25W-01 COSM4927287 c.1746T>G p.P582P Substitution - coding silent 17:43195035-43195035 + TCGA-AM-5821-01 COSM3691599 c.917G>A p.R306Q Substitution - Missense 17:43191425-43191425 + PD18149a COSM5783827 c.2796G>A p.R932R Substitution - coding silent 17:43209969-43209969 + LUAD-S01345 COSM396970 c.354G>C p.V118V Substitution - coding silent 17:43186396-43186396 + LUAD-S01315 COSM344536 c.1236C>G p.L412L Substitution - coding silent 17:43193350-43193350 + 421 COSM4432176 c.952G>C p.E318Q Substitution - Missense 17:43191460-43191460 + SNU-175 COSM3190212 c.1963C>T p.R655* Substitution - Nonsense 17:43197043-43197043 + GC8_T COSM148281 c.165+9T>C p.? Unknown 17:43178007-43178007 + CSCC-17-T COSM4519979 c.1037G>A p.G346D Substitution - Missense 17:43191545-43191545 + 27T COSM3712327 c.681C>A p.V227V Substitution - coding silent 17:43189788-43189788 + TCGA-AP-A051-01 COSM979755 c.951G>T p.K317N Substitution - Missense 17:43191459-43191459 + TCGA-DJ-A1QE-01 COSM3370743 c.704C>T p.P235L Substitution - Missense 17:43190617-43190617 + 229 COSM4426247 c.308C>T p.A103V Substitution - Missense 17:43186350-43186350 + TCGA-EE-A185-06 COSM3517905 c.1030C>T p.P344S Substitution - Missense 17:43191538-43191538 + TCGA-D9-A3Z4-01 COSM3517909 c.1444C>T p.P482S Substitution - Missense 17:43193558-43193558 + STC263 COSM5055502 c.1480A>G p.M494V Substitution - Missense 17:43193594-43193594 + TCGA-CJ-4918-01 COSM472856 c.2026+2T>C p.? Unknown 17:43197108-43197108 + PTC-54C COSM4130114 c.2363A>C p.N788T Substitution - Missense 17:43200503-43200503 + 9583_CLM COSM5755049 c.877G>A p.V293I Substitution - Missense 17:43191385-43191385 + TCGA-BC-A217-01 COSM4936930 c.1387C>T p.H463Y Substitution - Missense 17:43193501-43193501 + TCGA-BR-A4QL-01 COSM4066774 c.934C>T p.R312C Substitution - Missense 17:43191442-43191442 + 2275_T COSM3958415 c.470A>T p.Y157F Substitution - Missense 17:43189109-43189109 + T3668 COSM4705760 c.2615delA p.H872fs*15 Deletion - Frameshift 17:43202706-43202706 + T3724 COSM4705762 c.2893C>T p.R965C Substitution - Missense 17:43210066-43210066 + HCC151 COSM3717394 c.1753G>T p.V585L Substitution - Missense 17:43196483-43196483 + C32 COSM4619080 c.1298G>C p.C433S Substitution - Missense 17:43193412-43193412 + COLO201 COSM3190228 c.2877C>T p.N959N Substitution - coding silent 17:43210050-43210050 + 2293776 COSM4607666 c.810C>A p.F270L Substitution - Missense 17:43190723-43190723 + SCC-9 COSM4130114 c.2363A>C p.N788T Substitution - Missense 17:43200503-43200503 + TCGA-BH-A0W7-01 COSM436671 c.487G>A p.E163K Substitution - Missense 17:43189594-43189594 + CSCC-59-T COSM4452985 c.2383A>G p.I795V Substitution - Missense 17:43200523-43200523 + WSU-HN8 COSM4130114 c.2363A>C p.N788T Substitution - Missense 17:43200503-43200503 + TCGA-BP-4761-01 COSM3362164 c.43A>T p.I15F Substitution - Missense 17:43175842-43175842 + 587342 COSM1216745 c.2809C>T p.R937W Substitution - Missense 17:43209982-43209982 + LS174T COSM3190187 c.610T>C p.L204L Substitution - coding silent 17:43189717-43189717 + MO_1410 COSM5553708 c.2118G>T p.E706D Substitution - Missense 17:43200258-43200258 + TCGA-EK-A2PL-01 COSM4838423 c.1841C>T p.A614V Substitution - Missense 17:43196571-43196571 + TCGA-EE-A182-06 COSM3517911 c.1537C>T p.L513L Substitution - coding silent 17:43194362-43194362 + 61 COSM5741001 c.599C>T p.S200L Substitution - Missense 17:43189706-43189706 + T55 COSM4705756 c.1624G>A p.A542T Substitution - Missense 17:43194449-43194449 + C086 COSM5535228 c.1858C>T p.P620S Substitution - Missense 17:43196588-43196588 + YUKAT COSM5386427 c.2374G>A p.E792K Substitution - Missense 17:43200514-43200514 + TCGA-46-3769-01 COSM706217 c.418C>G p.P140A Substitution - Missense 17:43189057-43189057 + 6115237 COSM5549827 c.1264G>A p.A422T Substitution - Missense 17:43193378-43193378 + C086 COSM5535230 c.2576C>T p.S859L Substitution - Missense 17:43202667-43202667 + HN_62505 COSM124680 c.511G>C p.E171Q Substitution - Missense 17:43189618-43189618 + TCGA-UB-A7MB-01 COSM4931365 c.486A>T p.R162S Substitution - Missense 17:43189593-43189593 + TCGA-CC-A7IH-01 COSM4923477 c.1936A>G p.T646A Substitution - Missense 17:43197016-43197016 + DLD1 COSM4623567 c.752A>G p.D251G Substitution - Missense 17:43190665-43190665 + TCGA-AM-5821-01 COSM3755570 c.2768A>G p.H923R Substitution - Missense 17:43209941-43209941 + TCGA-EE-A29N-06 COSM3517913 c.1647C>T p.I549I Substitution - coding silent 17:43194472-43194472 + RKO COSM3190188 c.657C>T p.N219N Substitution - coding silent 17:43189764-43189764 + GC8_T COSM148282 c.335C>T p.A112V Substitution - Missense 17:43186377-43186377 + RK186_C01 COSM3742256 c.1680G>A p.L560L Substitution - coding silent 17:43194969-43194969 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.277721 17q21.31 166945

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.N788T c.2363A>C 17 41352520 COREAD A G IntronicSNV . c.165+520A>G 17 41330535 CLL A G Missense p.I568V c.1702A>G 17 41347008 HNSC A G Synonymous p.E163E c.489A>G 17 41341613 STAD A T Missense p.I15F c.43A>T 17 41327859 RCCC A T Missense p.I335F c.1003A>T 17 41343528 BLCA A T Missense p.N943Y c.2827A>T 17 41362019 LUSC A T Missense p.Q774L c.2321A>T 17 41352478 LUAD C A Missense p.Q466K c.1396C>A 17 41345527 RCCC C A Synonymous p.V195V c.585C>A 17 41341709 STAD CC TT Missense p.P341L c.1022_1023delinsTT 17 41343547 CM C G Missense p.H272D c.814C>G 17 41342744 BLCA C G Missense p.I58M c.174C>G 17 41331419 BLCA C G Missense p.P140A c.418C>G 17 41341074 LUSC C G Missense p.Q45E c.133C>G 17 41329983 BLCA C G Missense p.T43S c.128C>G 17 41329978 CM C G Synonymous p.L412L c.1236C>G 17 41345367 RCCC C T IntronicSNV . c.864-89C>T 17 41343300 CLL C T Missense p.H330Y c.988C>T 17 41343513 RCCC C T Missense p.L323F c.967C>T 17 41343492 CM C T Missense p.P192S c.574C>T 17 41341698 CM C T Missense p.P235L c.704C>T 17 41342634 THCA C T Missense p.P23L c.68C>T 17 41327884 CM C T Missense p.P344S c.1030C>T 17 41343555 CM C T Missense p.P470L c.1409C>T 17 41345540 CM C T Missense p.S457F c.1370C>T 17 41345501 CM C T Missense p.S820L c.2459C>T 17 41352616 HNSC C T Missense p.S891F c.2672C>T 17 41355748 BLCA C T Missense p.S895F c.2684C>T 17 41355760 BLCA C T Missense p.T199I c.596C>T 17 41341720 CM C T Synonymous p.I549I c.1647C>T 17 41346489 CM C T Synonymous p.L513L c.1537C>T 17 41346379 CM C T Synonymous p.T646T c.1938C>T 17 41349035 CM G A 3-UTRSNV . c.2898+2G>A 17 41362092 BRCA G A Missense p.E163K c.487G>A 17 41341611 BRCA G A Missense p.E168K c.502G>A 17 41341626 RCCC G A Missense p.M398I c.1194G>A 17 41345231 BLCA G A Missense p.V170I c.508G>A 17 41341632 CM G A Synonymous p.K172K c.516G>A 17 41341640 STAD G C Missense p.D144H c.430G>C 17 41341086 LUSC G C Missense p.E171Q c.511G>C 17 41341635 HNSC G T Missense p.D559Y c.1675G>T 17 41346981 STAD G T Missense p.G785V c.2354G>T 17 41352511 BLCA G T Missense p.G785V c.2354G>T 17 41352511 NB G T Missense p.K427N c.1281G>T 17 41345412 LUAD G T Missense p.Q175H c.525G>T 17 41341649 COREAD G T Nonsense p.E651* c.1951G>T 17 41349048 BRCA T C Missense p.L325P c.974T>C 17 41343499 ESCA T C SpliceDonorSNV . c.2026+2T>C 17 41349125 RCCC