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 79651104 79651104 + Missense_Mutation SNP G G A TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr17:79651104G>A c.8G>A c.(7-9)cGa>cAa p.R3Q BLCA 17 79655766 79655766 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr17:79655766C>G c.324C>G c.(322-324)atC>atG p.I108M BLCA 17 79657709 79657709 + Silent SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr17:79657709A>G c.474A>G c.(472-474)ccA>ccG p.P158P BLCA 17 79657710 79657710 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr17:79657710G>A c.475G>A c.(475-477)Gac>Aac p.D159N BLCA 17 79657758 79657758 + Missense_Mutation SNP G G T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 g.chr17:79657758G>T c.523G>T c.(523-525)Gtg>Ttg p.V175L BLCA 17 79660899 79660899 + Splice_Site SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 g.chr17:79660899G>T c.e11-1 BLCA 17 79660985 79660985 + Missense_Mutation SNP C C G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr17:79660985C>G c.926C>G c.(925-927)tCt>tGt p.S309C BLCA 17 79662979 79662979 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr17:79662979G>A c.1343G>A c.(1342-1344)gGc>gAc p.G448D BLCA 17 79663729 79663729 + Frame_Shift_Del DEL G G - TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 g.chr17:79663729delG c.1659delG c.(1657-1659)acgfs p.T553fs BLCA 17 79663897 79663897 + Missense_Mutation SNP C C T TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr17:79663897C>T c.1751C>T c.(1750-1752)tCg>tTg p.S584L BLCA 17 79667810 79667810 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr17:79667810C>T c.2102C>T c.(2101-2103)tCa>tTa p.S701L BLCA 17 79667810 79667810 + Missense_Mutation SNP C C T TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr17:79667810C>T c.2102C>T c.(2101-2103)tCa>tTa p.S701L BLCA 17 79668080 79668080 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr17:79668080C>T c.2142C>T c.(2140-2142)ctC>ctT p.L714L BRCA 17 79653400 79653400 + Missense_Mutation SNP G G T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 g.chr17:79653400G>T c.181G>T c.(181-183)Gcc>Tcc p.A61S BRCA 17 79660569 79660570 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 g.chr17:79660569_79660570insC c.699_700insC c.(700-702)cccfs p.P234fs BRCA 17 79660949 79660949 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr17:79660949C>T c.890C>T c.(889-891)tCg>tTg p.S297L BRCA 17 79661866 79661866 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr17:79661866G>A c.958G>A c.(958-960)Gag>Aag p.E320K BRCA 17 79662012 79662012 + Missense_Mutation SNP G G A TCGA-D8-A27K-01A-11D-A16D-09 TCGA-D8-A27K-10A-01D-A16D-09 g.chr17:79662012G>A c.1034G>A c.(1033-1035)aGc>aAc p.S345N BRCA 17 79663911 79663911 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr17:79663911T>G c.1765T>G c.(1765-1767)Ttc>Gtc p.F589V CESC 17 79660922 79660922 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr17:79660922C>T c.863C>T c.(862-864)tCg>tTg p.S288L CESC 17 79660949 79660949 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr17:79660949C>T c.890C>T c.(889-891)tCg>tTg p.S297L CESC 17 79667754 79667754 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr17:79667754C>T c.2046C>T c.(2044-2046)ctC>ctT p.L682L COAD 17 79653370 79653370 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:79653370A>G c.151A>G c.(151-153)Aag>Gag p.K51E COAD 17 79653370 79653370 + Missense_Mutation SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr17:79653370A>G c.151A>G c.(151-153)Aag>Gag p.K51E COAD 17 79653371 79653371 + Missense_Mutation SNP A A G TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr17:79653371A>G c.152A>G c.(151-153)aAg>aGg p.K51R COAD 17 79653371 79653371 + Missense_Mutation SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:79653371A>G c.152A>G c.(151-153)aAg>aGg p.K51R COAD 17 79653371 79653371 + Missense_Mutation SNP A A G TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr17:79653371A>G c.152A>G c.(151-153)aAg>aGg p.K51R COAD 17 79653371 79653371 + Missense_Mutation SNP A A G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:79653371A>G c.152A>G c.(151-153)aAg>aGg p.K51R COAD 17 79653372 79653372 + Silent SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:79653372G>A c.153G>A c.(151-153)aaG>aaA p.K51K COAD 17 79653396 79653396 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr17:79653396C>T c.177C>T c.(175-177)caC>caT p.H59H COAD 17 79654089 79654089 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:79654089C>T c.255C>T c.(253-255)aaC>aaT p.N85N COAD 17 79655789 79655789 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:79655789C>T c.347C>T c.(346-348)gCg>gTg p.A116V COAD 17 79661863 79661863 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:79661863G>A c.955G>A c.(955-957)Gct>Act p.A319T COAD 17 79667542 79667542 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:79667542G>T c.1928G>T c.(1927-1929)gGg>gTg p.G643V COAD 17 79668619 79668619 + Missense_Mutation SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:79668619A>G c.2305A>G c.(2305-2307)Agc>Ggc p.S769G COADREAD 17 79653370 79653370 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:79653370A>G c.151A>G c.(151-153)Aag>Gag p.K51E COADREAD 17 79653370 79653370 + Missense_Mutation SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr17:79653370A>G c.151A>G c.(151-153)Aag>Gag p.K51E COADREAD 17 79653371 79653371 + Missense_Mutation SNP A A G TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr17:79653371A>G c.152A>G c.(151-153)aAg>aGg p.K51R COADREAD 17 79653371 79653371 + Missense_Mutation SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:79653371A>G c.152A>G c.(151-153)aAg>aGg p.K51R COADREAD 17 79653371 79653371 + Missense_Mutation SNP A A G TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr17:79653371A>G c.152A>G c.(151-153)aAg>aGg p.K51R COADREAD 17 79653371 79653371 + Missense_Mutation SNP A A G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:79653371A>G c.152A>G c.(151-153)aAg>aGg p.K51R COADREAD 17 79653372 79653372 + Silent SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:79653372G>A c.153G>A c.(151-153)aaG>aaA p.K51K COADREAD 17 79653396 79653396 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr17:79653396C>T c.177C>T c.(175-177)caC>caT p.H59H COADREAD 17 79654089 79654089 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:79654089C>T c.255C>T c.(253-255)aaC>aaT p.N85N COADREAD 17 79655789 79655789 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:79655789C>T c.347C>T c.(346-348)gCg>gTg p.A116V COADREAD 17 79661863 79661863 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:79661863G>A c.955G>A c.(955-957)Gct>Act p.A319T COADREAD 17 79667542 79667542 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:79667542G>T c.1928G>T c.(1927-1929)gGg>gTg p.G643V COADREAD 17 79668619 79668619 + Missense_Mutation SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:79668619A>G c.2305A>G c.(2305-2307)Agc>Ggc p.S769G DLBC 17 79658569 79658569 + Silent SNP C C T TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr17:79658569C>T c.630C>T c.(628-630)cgC>cgT p.R210R DLBC 17 79660570 79660570 + Missense_Mutation SNP C C T TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr17:79660570C>T c.700C>T c.(700-702)Ccc>Tcc p.P234S DLBC 17 79663744 79663744 + Silent SNP G G A TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr17:79663744G>A c.1674G>A c.(1672-1674)gcG>gcA p.A558A ESCA 17 79660958 79660958 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 g.chr17:79660958C>T c.899C>T c.(898-900)tCa>tTa p.S300L ESCA 17 79662869 79662869 + Silent SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr17:79662869G>A c.1233G>A c.(1231-1233)gcG>gcA p.A411A ESCA 17 79662971 79662971 + Silent SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr17:79662971C>T c.1335C>T c.(1333-1335)tcC>tcT p.S445S ESCA 17 79667621 79667621 + Silent SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr17:79667621G>T c.2007G>T c.(2005-2007)gcG>gcT p.A669A GBMLGG 17 79653396 79653396 + Silent SNP C C T TCGA-HW-8320-01A-11D-2395-08 TCGA-HW-8320-10A-01D-2396-08 g.chr17:79653396C>T c.177C>T c.(175-177)caC>caT p.H59H GBMLGG 17 79654062 79654062 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:79654062C>T c.228C>T c.(226-228)ggC>ggT p.G76G GBMLGG 17 79657241 79657241 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 g.chr17:79657241G>A c.445G>A c.(445-447)Gat>Aat p.D149N GBMLGG 17 79660715 79660717 + In_Frame_Del DEL AGG AGG - TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr17:79660715_79660717delAGG c.773_775delAGG c.(772-777)caggag>cag p.E262del GBMLGG 17 79667739 79667739 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:79667739G>T c.2031G>T c.(2029-2031)caG>caT p.Q677H HNSC 17 79652675 79652675 + Silent SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 g.chr17:79652675G>A c.78G>A c.(76-78)gaG>gaA p.E26E HNSC 17 79655763 79655763 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:79655763G>A c.321G>A c.(319-321)aaG>aaA p.K107K HNSC 17 79658578 79658578 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 g.chr17:79658578G>A c.639G>A c.(637-639)gaG>gaA p.E213E HNSC 17 79661856 79661856 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:79661856G>A c.948G>A c.(946-948)gcG>gcA p.A316A HNSC 17 79662834 79662834 + Missense_Mutation SNP G G A TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr17:79662834G>A c.1198G>A c.(1198-1200)Gag>Aag p.E400K HNSC 17 79662939 79662939 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr17:79662939A>G c.1303A>G c.(1303-1305)Aat>Gat p.N435D HNSC 17 79663007 79663007 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 g.chr17:79663007C>T c.1371C>T c.(1369-1371)ctC>ctT p.L457L HNSC 17 79667588 79667588 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 g.chr17:79667588C>T c.1974C>T c.(1972-1974)ccC>ccT p.P658P HNSC 17 79667832 79667832 + Silent SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 g.chr17:79667832T>C c.2124T>C c.(2122-2124)ccT>ccC p.P708P KICH 17 79663491 79663491 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:79663491G>A c.1498G>A c.(1498-1500)Gag>Aag p.E500K KIPAN 17 79652641 79652641 + Missense_Mutation SNP C C T TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr17:79652641C>T c.44C>T c.(43-45)gCg>gTg p.A15V KIPAN 17 79660684 79660684 + Splice_Site SNP C C T TCGA-Y8-A8RZ-01A-11D-A36X-10 TCGA-Y8-A8RZ-10A-01D-A370-10 g.chr17:79660684C>T c.742C>T c.(742-744)Ctg>Ttg p.L248L KIPAN 17 79663491 79663491 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:79663491G>A c.1498G>A c.(1498-1500)Gag>Aag p.E500K KIPAN 17 79663907 79663907 + Silent SNP C C A TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr17:79663907C>A c.1761C>A c.(1759-1761)gcC>gcA p.A587A KIPAN 17 79667601 79667601 + Missense_Mutation SNP T T C TCGA-BP-4972-01A-01D-1462-08 TCGA-BP-4972-11A-01D-1462-08 g.chr17:79667601T>C c.1987T>C c.(1987-1989)Tac>Cac p.Y663H KIRC 17 79652641 79652641 + Missense_Mutation SNP C C T TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr17:79652641C>T c.44C>T c.(43-45)gCg>gTg p.A15V KIRC 17 79667601 79667601 + Missense_Mutation SNP T T C TCGA-BP-4972-01A-01D-1462-08 TCGA-BP-4972-11A-01D-1462-08 g.chr17:79667601T>C c.1987T>C c.(1987-1989)Tac>Cac p.Y663H KIRP 17 79660684 79660684 + Splice_Site SNP C C T TCGA-Y8-A8RZ-01A-11D-A36X-10 TCGA-Y8-A8RZ-10A-01D-A370-10 g.chr17:79660684C>T c.742C>T c.(742-744)Ctg>Ttg p.L248L KIRP 17 79663907 79663907 + Silent SNP C C A TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr17:79663907C>A c.1761C>A c.(1759-1761)gcC>gcA p.A587A LGG 17 79653396 79653396 + Silent SNP C C T TCGA-HW-8320-01A-11D-2395-08 TCGA-HW-8320-10A-01D-2396-08 g.chr17:79653396C>T c.177C>T c.(175-177)caC>caT p.H59H LGG 17 79654062 79654062 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:79654062C>T c.228C>T c.(226-228)ggC>ggT p.G76G LGG 17 79657241 79657241 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 g.chr17:79657241G>A c.445G>A c.(445-447)Gat>Aat p.D149N LGG 17 79660715 79660717 + In_Frame_Del DEL AGG AGG - TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr17:79660715_79660717delAGG c.773_775delAGG c.(772-777)caggag>cag p.E262del LGG 17 79667739 79667739 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:79667739G>T c.2031G>T c.(2029-2031)caG>caT p.Q677H LIHC 17 79660939 79660939 + Frame_Shift_Del DEL C C - TCGA-BC-A69H-01A-11D-A30V-10 TCGA-BC-A69H-10A-01D-A30V-10 g.chr17:79660939delC c.880delC c.(880-882)cccfs p.P294fs LIHC 17 79660963 79660963 + Frame_Shift_Del DEL C C - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr17:79660963delC c.904delC c.(904-906)cccfs p.P303fs LIHC 17 79661868 79661869 + Missense_Mutation DNP GG GG TC TCGA-MI-A75C-01A-11D-A32G-10 TCGA-MI-A75C-10A-01D-A32G-10 g.chr17:79661868_79661869GG>TC c.960_961GG>TC c.(958-963)gaGGac>gaTCac p.320_321ED>DH LIHC 17 79663472 79663473 + Nonsense_Mutation DNP GA GA TT TCGA-RC-A7SK-01A-11D-A34Z-10 TCGA-RC-A7SK-10A-01D-A34Z-10 g.chr17:79663472_79663473GA>TT c.1479_1480GA>TT c.(1477-1482)gaGAag>gaTTag p.493_494EK>D* LUAD 17 79660584 79660584 + Silent SNP G G C TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr17:79660584G>C c.714G>C c.(712-714)ctG>ctC p.L238L LUAD 17 79662893 79662893 + Silent SNP C C T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr17:79662893C>T c.1257C>T c.(1255-1257)ttC>ttT p.F419F LUAD 17 79662894 79662894 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr17:79662894G>A c.1258G>A c.(1258-1260)Gtg>Atg p.V420M LUSC 17 79658588 79658588 + Missense_Mutation SNP G G C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr17:79658588G>C c.649G>C c.(649-651)Gag>Cag p.E217Q LUSC 17 79667556 79667556 + Missense_Mutation SNP C C T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr17:79667556C>T c.1942C>T c.(1942-1944)Ccc>Tcc p.P648S LUSC 17 79668078 79668078 + Missense_Mutation SNP C C T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr17:79668078C>T c.2140C>T c.(2140-2142)Ctc>Ttc p.L714F OV 17 79653372 79653372 + Silent SNP G G A TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 g.chr17:79653372G>A c.153G>A c.(151-153)aaG>aaA p.K51K OV 17 79660960 79660961 + Missense_Mutation DNP GC GC TT TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 g.chr17:79660960_79660961GC>TT c.901_902GC>TT c.(901-903)GCg>TTg p.A301L PAAD 17 79662228 79662228 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:79662228C>A c.1154C>A c.(1153-1155)cCt>cAt p.P385H PAAD 17 79667816 79667816 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:79667816C>T c.2108C>T c.(2107-2109)tCc>tTc p.S703F PRAD 17 79657219 79657219 + Silent SNP C C A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 g.chr17:79657219C>A c.423C>A c.(421-423)gtC>gtA p.V141V PRAD 17 79657240 79657240 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:79657240C>T c.444C>T c.(442-444)agC>agT p.S148S PRAD 17 79663968 79663968 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:79663968T>C c.1822T>C c.(1822-1824)Tac>Cac p.Y608H PRAD 17 79667775 79667775 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:79667775G>A c.2067G>A c.(2065-2067)ccG>ccA p.P689P PRAD 17 79667788 79667788 + Missense_Mutation SNP A A G TCGA-ZG-A9LS-01A-12D-A41K-08 TCGA-ZG-A9LS-10A-01D-A41N-08 g.chr17:79667788A>G c.2080A>G c.(2080-2082)Atg>Gtg p.M694V SKCM 17 79653362 79653362 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr17:79653362C>T c.143C>T c.(142-144)tCc>tTc p.S48F SKCM 17 79658481 79658481 + Missense_Mutation SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr17:79658481A>G c.542A>G c.(541-543)cAc>cGc p.H181R SKCM 17 79658531 79658531 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:79658531T>C c.592T>C c.(592-594)Tcc>Ccc p.S198P SKCM 17 79662044 79662044 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:79662044G>A c.1066G>A c.(1066-1068)Gag>Aag p.E356K SKCM 17 79663933 79663933 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr17:79663933C>T c.1787C>T c.(1786-1788)gCc>gTc p.A596V SKCM 17 79663934 79663934 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr17:79663934C>T c.1788C>T c.(1786-1788)gcC>gcT p.A596A

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 79660908 79660908 single base substitution G C downstream_gene_variant BLCA-CN 17 79660908 79660908 single base substitution G C exon_variant BLCA-CN 17 79660908 79660908 single base substitution G C missense_variant K283N 849G>C BLCA-CN 17 79660908 79660908 single base substitution G C missense_variant K3N 9G>C BLCA-CN 17 79660908 79660908 single base substitution G C upstream_gene_variant BLCA-US 17 79650829 79650829 single base substitution C G intron_variant BLCA-US 17 79650829 79650829 single base substitution C G upstream_gene_variant BLCA-US 17 79660899 79660899 single base substitution G T downstream_gene_variant BLCA-US 17 79660899 79660899 single base substitution G T splice_acceptor_variant BLCA-US 17 79660899 79660899 single base substitution G T upstream_gene_variant BLCA-US 17 79667810 79667810 single base substitution C T downstream_gene_variant BLCA-US 17 79667810 79667810 single base substitution C T exon_variant BLCA-US 17 79667810 79667810 single base substitution C T intron_variant BLCA-US 17 79667810 79667810 single base substitution C T missense_variant S35L 104C>T BLCA-US 17 79667810 79667810 single base substitution C T missense_variant S701L 2102C>T BLCA-US 17 79667810 79667810 single base substitution C T upstream_gene_variant BLCA-US 17 79668080 79668080 single base substitution C T downstream_gene_variant BLCA-US 17 79668080 79668080 single base substitution C T exon_variant BLCA-US 17 79668080 79668080 single base substitution C T intron_variant BLCA-US 17 79668080 79668080 single base substitution C T synonymous_variant L48L 144C>T BLCA-US 17 79668080 79668080 single base substitution C T synonymous_variant L714L 2142C>T BLCA-US 17 79668080 79668080 single base substitution C T synonymous_variant L9L 27C>T BLCA-US 17 79668080 79668080 single base substitution C T upstream_gene_variant BLCA-US 17 79674028 79674028 single base substitution C G downstream_gene_variant BRCA-EU 17 79645950 79645962 deletion of <=200bp TAATCCCAGCATT - upstream_gene_variant BRCA-EU 17 79646121 79646121 single base substitution T C upstream_gene_variant BRCA-EU 17 79646686 79646686 single base substitution G C upstream_gene_variant BRCA-EU 17 79648490 79648490 single base substitution C G upstream_gene_variant BRCA-EU 17 79650684 79650684 single base substitution C T intron_variant BRCA-EU 17 79650684 79650684 single base substitution C T upstream_gene_variant BRCA-EU 17 79650937 79650937 single base substitution A T intron_variant BRCA-EU 17 79650937 79650937 single base substitution A T upstream_gene_variant BRCA-EU 17 79653280 79653280 single base substitution C T intron_variant BRCA-EU 17 79653280 79653280 single base substitution C T upstream_gene_variant BRCA-EU 17 79653369 79653369 single base substitution G C 5_prime_UTR_variant BRCA-EU 17 79653369 79653369 single base substitution G C exon_variant BRCA-EU 17 79653369 79653369 single base substitution G C missense_variant K50N 150G>C BRCA-EU 17 79653369 79653369 single base substitution G C upstream_gene_variant BRCA-EU 17 79653555 79653555 single base substitution G C intron_variant BRCA-EU 17 79653555 79653555 single base substitution G C upstream_gene_variant BRCA-EU 17 79654330 79654330 single base substitution G C intron_variant BRCA-EU 17 79654330 79654330 single base substitution G C upstream_gene_variant BRCA-EU 17 79654582 79654582 single base substitution C A intron_variant BRCA-EU 17 79654582 79654582 single base substitution C A upstream_gene_variant BRCA-EU 17 79655505 79655505 single base substitution G A intron_variant BRCA-EU 17 79655505 79655505 single base substitution G A upstream_gene_variant BRCA-EU 17 79655507 79655507 single base substitution G A intron_variant BRCA-EU 17 79655507 79655507 single base substitution G A upstream_gene_variant BRCA-EU 17 79656859 79656859 single base substitution G C downstream_gene_variant BRCA-EU 17 79656859 79656859 single base substitution G C intron_variant BRCA-EU 17 79656859 79656859 single base substitution G C upstream_gene_variant BRCA-EU 17 79657049 79657049 single base substitution G T downstream_gene_variant BRCA-EU 17 79657049 79657049 single base substitution G T intron_variant BRCA-EU 17 79657049 79657049 single base substitution G T upstream_gene_variant BRCA-EU 17 79657124 79657124 single base substitution G A downstream_gene_variant BRCA-EU 17 79657124 79657124 single base substitution G A intron_variant BRCA-EU 17 79657124 79657124 single base substitution G A upstream_gene_variant BRCA-EU 17 79657225 79657225 single base substitution A C downstream_gene_variant BRCA-EU 17 79657225 79657225 single base substitution A C exon_variant BRCA-EU 17 79657225 79657225 single base substitution A C synonymous_variant P127P 381A>C BRCA-EU 17 79657225 79657225 single base substitution A C synonymous_variant P143P 429A>C BRCA-EU 17 79657225 79657225 single base substitution A C upstream_gene_variant BRCA-EU 17 79661724 79661724 single base substitution C T downstream_gene_variant BRCA-EU 17 79661724 79661724 single base substitution C T intron_variant BRCA-EU 17 79661724 79661724 single base substitution C T upstream_gene_variant BRCA-EU 17 79662978 79662978 single base substitution G A downstream_gene_variant BRCA-EU 17 79662978 79662978 single base substitution G A exon_variant BRCA-EU 17 79662978 79662978 single base substitution G A missense_variant G117S 349G>A BRCA-EU 17 79662978 79662978 single base substitution G A missense_variant G448S 1342G>A BRCA-EU 17 79662978 79662978 single base substitution G A upstream_gene_variant BRCA-EU 17 79665326 79665326 single base substitution C T downstream_gene_variant BRCA-EU 17 79665326 79665326 single base substitution C T exon_variant BRCA-EU 17 79665326 79665326 single base substitution C T intron_variant BRCA-EU 17 79665326 79665326 single base substitution C T upstream_gene_variant BRCA-EU 17 79666297 79666297 single base substitution C G downstream_gene_variant BRCA-EU 17 79666297 79666297 single base substitution C G intron_variant BRCA-EU 17 79666297 79666297 single base substitution C G upstream_gene_variant BRCA-EU 17 79668319 79668319 single base substitution A G downstream_gene_variant BRCA-EU 17 79668319 79668319 single base substitution A G intron_variant BRCA-EU 17 79668319 79668319 single base substitution A G missense_variant T91A 271A>G BRCA-EU 17 79669893 79669893 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 79669893 79669893 single base substitution G A downstream_gene_variant BRCA-EU 17 79670160 79670160 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 79670160 79670160 single base substitution C G downstream_gene_variant BRCA-EU 17 79673355 79673355 single base substitution C A downstream_gene_variant BRCA-EU 17 79673739 79673739 single base substitution A G downstream_gene_variant BRCA-EU 17 79674081 79674081 single base substitution C T downstream_gene_variant BRCA-EU 17 79674572 79674572 single base substitution C T downstream_gene_variant BRCA-FR 17 79653280 79653280 single base substitution C T intron_variant BRCA-FR 17 79653280 79653280 single base substitution C T upstream_gene_variant BRCA-FR 17 79653555 79653555 single base substitution G C intron_variant BRCA-FR 17 79653555 79653555 single base substitution G C upstream_gene_variant BRCA-FR 17 79654582 79654582 single base substitution C A intron_variant BRCA-FR 17 79654582 79654582 single base substitution C A upstream_gene_variant BRCA-FR 17 79656802 79656802 single base substitution C G downstream_gene_variant BRCA-FR 17 79656802 79656802 single base substitution C G intron_variant BRCA-FR 17 79656802 79656802 single base substitution C G upstream_gene_variant BRCA-FR 17 79667902 79667902 single base substitution G A downstream_gene_variant BRCA-FR 17 79667902 79667902 single base substitution G A intron_variant BRCA-FR 17 79667902 79667902 single base substitution G A upstream_gene_variant BRCA-FR 17 79668319 79668319 single base substitution A G downstream_gene_variant BRCA-FR 17 79668319 79668319 single base substitution A G intron_variant BRCA-FR 17 79668319 79668319 single base substitution A G missense_variant T91A 271A>G BRCA-FR 17 79669893 79669893 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 79669893 79669893 single base substitution G A downstream_gene_variant BRCA-FR 17 79673526 79673526 single base substitution C T downstream_gene_variant BRCA-UK 17 79674001 79674001 single base substitution G A downstream_gene_variant BRCA-US 17 79650736 79650736 single base substitution C G intron_variant BRCA-US 17 79650736 79650736 single base substitution C G upstream_gene_variant BRCA-US 17 79653400 79653400 single base substitution G T 5_prime_UTR_variant BRCA-US 17 79653400 79653400 single base substitution G T exon_variant BRCA-US 17 79653400 79653400 single base substitution G T missense_variant A61S 181G>T BRCA-US 17 79653400 79653400 single base substitution G T upstream_gene_variant BRCA-US 17 79660949 79660949 single base substitution C T downstream_gene_variant BRCA-US 17 79660949 79660949 single base substitution C T exon_variant BRCA-US 17 79660949 79660949 single base substitution C T missense_variant S17L 50C>T BRCA-US 17 79660949 79660949 single base substitution C T missense_variant S297L 890C>T BRCA-US 17 79660949 79660949 single base substitution C T upstream_gene_variant BRCA-US 17 79661866 79661866 single base substitution G A downstream_gene_variant BRCA-US 17 79661866 79661866 single base substitution G A exon_variant BRCA-US 17 79661866 79661866 single base substitution G A missense_variant E320K 958G>A BRCA-US 17 79661866 79661866 single base substitution G A missense_variant E40K 118G>A BRCA-US 17 79661866 79661866 single base substitution G A upstream_gene_variant BRCA-US 17 79662012 79662012 single base substitution G A downstream_gene_variant BRCA-US 17 79662012 79662012 single base substitution G A exon_variant BRCA-US 17 79662012 79662012 single base substitution G A missense_variant S345N 1034G>A BRCA-US 17 79662012 79662012 single base substitution G A missense_variant S65N 194G>A BRCA-US 17 79662012 79662012 single base substitution G A upstream_gene_variant BRCA-US 17 79663911 79663911 single base substitution T G downstream_gene_variant BRCA-US 17 79663911 79663911 single base substitution T G exon_variant BRCA-US 17 79663911 79663911 single base substitution T G intron_variant BRCA-US 17 79663911 79663911 single base substitution T G missense_variant F258V 772T>G BRCA-US 17 79663911 79663911 single base substitution T G missense_variant F589V 1765T>G BRCA-US 17 79663911 79663911 single base substitution T G upstream_gene_variant BRCA-US 17 79671378 79671378 insertion of <=200bp - C downstream_gene_variant BTCA-JP 17 79650169 79650169 single base substitution C A upstream_gene_variant BTCA-JP 17 79662109 79662109 single base substitution A G downstream_gene_variant BTCA-JP 17 79662109 79662109 single base substitution A G intron_variant BTCA-JP 17 79662109 79662109 single base substitution A G upstream_gene_variant BTCA-JP 17 79663435 79663435 deletion of <=200bp G - downstream_gene_variant BTCA-JP 17 79663435 79663435 deletion of <=200bp G - exon_variant BTCA-JP 17 79663435 79663435 deletion of <=200bp G - frameshift_variant R150 BTCA-JP 17 79663435 79663435 deletion of <=200bp G - frameshift_variant R481 BTCA-JP 17 79663435 79663435 deletion of <=200bp G - upstream_gene_variant BTCA-JP 17 79663963 79663963 single base substitution G A downstream_gene_variant BTCA-JP 17 79663963 79663963 single base substitution G A exon_variant BTCA-JP 17 79663963 79663963 single base substitution G A intron_variant BTCA-JP 17 79663963 79663963 single base substitution G A missense_variant G275D 824G>A BTCA-JP 17 79663963 79663963 single base substitution G A missense_variant G606D 1817G>A BTCA-JP 17 79663963 79663963 single base substitution G A upstream_gene_variant BTCA-JP 17 79668060 79668060 single base substitution G A downstream_gene_variant BTCA-JP 17 79668060 79668060 single base substitution G A intron_variant BTCA-JP 17 79668060 79668060 single base substitution G A upstream_gene_variant BTCA-JP 17 79668078 79668078 single base substitution C T downstream_gene_variant BTCA-JP 17 79668078 79668078 single base substitution C T exon_variant BTCA-JP 17 79668078 79668078 single base substitution C T intron_variant BTCA-JP 17 79668078 79668078 single base substitution C T missense_variant L48F 142C>T BTCA-JP 17 79668078 79668078 single base substitution C T missense_variant L714F 2140C>T BTCA-JP 17 79668078 79668078 single base substitution C T missense_variant L9F 25C>T BTCA-JP 17 79668078 79668078 single base substitution C T upstream_gene_variant CESC-US 17 79648864 79648864 single base substitution G C upstream_gene_variant CESC-US 17 79650079 79650079 single base substitution G C upstream_gene_variant CESC-US 17 79660922 79660922 single base substitution C T downstream_gene_variant CESC-US 17 79660922 79660922 single base substitution C T exon_variant CESC-US 17 79660922 79660922 single base substitution C T missense_variant S288L 863C>T CESC-US 17 79660922 79660922 single base substitution C T missense_variant S8L 23C>T CESC-US 17 79660922 79660922 single base substitution C T upstream_gene_variant CESC-US 17 79660949 79660949 single base substitution C T downstream_gene_variant CESC-US 17 79660949 79660949 single base substitution C T exon_variant CESC-US 17 79660949 79660949 single base substitution C T missense_variant S17L 50C>T CESC-US 17 79660949 79660949 single base substitution C T missense_variant S297L 890C>T CESC-US 17 79660949 79660949 single base substitution C T upstream_gene_variant CESC-US 17 79667754 79667754 single base substitution C T downstream_gene_variant CESC-US 17 79667754 79667754 single base substitution C T exon_variant CESC-US 17 79667754 79667754 single base substitution C T intron_variant CESC-US 17 79667754 79667754 single base substitution C T synonymous_variant L16L 48C>T CESC-US 17 79667754 79667754 single base substitution C T synonymous_variant L682L 2046C>T CESC-US 17 79667754 79667754 single base substitution C T upstream_gene_variant CESC-US 17 79674001 79674001 single base substitution G A downstream_gene_variant CLLE-ES 17 79661769 79661769 single base substitution C T downstream_gene_variant CLLE-ES 17 79661769 79661769 single base substitution C T intron_variant CLLE-ES 17 79661769 79661769 single base substitution C T upstream_gene_variant COAD-US 17 79650819 79650819 single base substitution C T intron_variant COAD-US 17 79650819 79650819 single base substitution C T upstream_gene_variant COAD-US 17 79650828 79650828 single base substitution T G intron_variant COAD-US 17 79650828 79650828 single base substitution T G upstream_gene_variant COAD-US 17 79651130 79651130 single base substitution C A exon_variant COAD-US 17 79651130 79651130 single base substitution C A intron_variant COAD-US 17 79651130 79651130 single base substitution C A missense_variant L12I 34C>A COAD-US 17 79651130 79651130 single base substitution C A upstream_gene_variant COAD-US 17 79653396 79653396 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 17 79653396 79653396 single base substitution C T exon_variant COAD-US 17 79653396 79653396 single base substitution C T synonymous_variant H59H 177C>T COAD-US 17 79653396 79653396 single base substitution C T upstream_gene_variant COAD-US 17 79654089 79654089 single base substitution C T exon_variant COAD-US 17 79654089 79654089 single base substitution C T synonymous_variant N18N 54C>T COAD-US 17 79654089 79654089 single base substitution C T synonymous_variant N85N 255C>T COAD-US 17 79654089 79654089 single base substitution C T upstream_gene_variant COAD-US 17 79655789 79655789 single base substitution C T exon_variant COAD-US 17 79655789 79655789 single base substitution C T missense_variant A100V 299C>T COAD-US 17 79655789 79655789 single base substitution C T missense_variant A116V 347C>T COAD-US 17 79655789 79655789 single base substitution C T missense_variant A49V 146C>T COAD-US 17 79655789 79655789 single base substitution C T upstream_gene_variant COAD-US 17 79660950 79660950 single base substitution G T downstream_gene_variant COAD-US 17 79660950 79660950 single base substitution G T exon_variant COAD-US 17 79660950 79660950 single base substitution G T synonymous_variant S17S 51G>T COAD-US 17 79660950 79660950 single base substitution G T synonymous_variant S297S 891G>T COAD-US 17 79660950 79660950 single base substitution G T upstream_gene_variant COAD-US 17 79661863 79661863 single base substitution G A downstream_gene_variant COAD-US 17 79661863 79661863 single base substitution G A exon_variant COAD-US 17 79661863 79661863 single base substitution G A missense_variant A319T 955G>A COAD-US 17 79661863 79661863 single base substitution G A missense_variant A39T 115G>A COAD-US 17 79661863 79661863 single base substitution G A upstream_gene_variant COAD-US 17 79663020 79663020 single base substitution G A downstream_gene_variant COAD-US 17 79663020 79663020 single base substitution G A exon_variant COAD-US 17 79663020 79663020 single base substitution G A missense_variant E131K 391G>A COAD-US 17 79663020 79663020 single base substitution G A missense_variant E462K 1384G>A COAD-US 17 79663020 79663020 single base substitution G A upstream_gene_variant COAD-US 17 79667542 79667542 single base substitution G T downstream_gene_variant COAD-US 17 79667542 79667542 single base substitution G T exon_variant COAD-US 17 79667542 79667542 single base substitution G T intron_variant COAD-US 17 79667542 79667542 single base substitution G T missense_variant G643V 1928G>T COAD-US 17 79667542 79667542 single base substitution G T upstream_gene_variant COAD-US 17 79668552 79668552 single base substitution C T downstream_gene_variant COAD-US 17 79668552 79668552 single base substitution C T exon_variant COAD-US 17 79668552 79668552 single base substitution C T intron_variant COAD-US 17 79668552 79668552 single base substitution C T synonymous_variant G746G 2238C>T COAD-US 17 79671282 79671282 single base substitution T C downstream_gene_variant COAD-US 17 79671366 79671366 deletion of <=200bp C - downstream_gene_variant COCA-CN 17 79648788 79648788 single base substitution A C upstream_gene_variant COCA-CN 17 79651040 79651040 single base substitution C G 5_prime_UTR_variant COCA-CN 17 79651040 79651040 single base substitution C G exon_variant COCA-CN 17 79651040 79651040 single base substitution C G intron_variant COCA-CN 17 79651040 79651040 single base substitution C G upstream_gene_variant COCA-CN 17 79660458 79660458 single base substitution G T downstream_gene_variant COCA-CN 17 79660458 79660458 single base substitution G T intron_variant COCA-CN 17 79660458 79660458 single base substitution G T upstream_gene_variant COCA-CN 17 79667546 79667546 single base substitution G A downstream_gene_variant COCA-CN 17 79667546 79667546 single base substitution G A exon_variant COCA-CN 17 79667546 79667546 single base substitution G A intron_variant COCA-CN 17 79667546 79667546 single base substitution G A synonymous_variant A644A 1932G>A COCA-CN 17 79667546 79667546 single base substitution G A upstream_gene_variant COCA-CN 17 79667878 79667878 single base substitution G T downstream_gene_variant COCA-CN 17 79667878 79667878 single base substitution G T intron_variant COCA-CN 17 79667878 79667878 single base substitution G T upstream_gene_variant COCA-CN 17 79668257 79668257 single base substitution C T downstream_gene_variant COCA-CN 17 79668257 79668257 single base substitution C T intron_variant COCA-CN 17 79668668 79668668 single base substitution C T 3_prime_UTR_variant COCA-CN 17 79668668 79668668 single base substitution C T downstream_gene_variant COCA-CN 17 79668668 79668668 single base substitution C T intron_variant COCA-CN 17 79670386 79670386 single base substitution A G downstream_gene_variant COCA-CN 17 79670476 79670476 single base substitution G A downstream_gene_variant COCA-CN 17 79673864 79673864 single base substitution G A downstream_gene_variant ESAD-UK 17 79648989 79648989 single base substitution C G upstream_gene_variant ESAD-UK 17 79649303 79649303 single base substitution G A upstream_gene_variant ESAD-UK 17 79650891 79650891 single base substitution T G intron_variant ESAD-UK 17 79650891 79650891 single base substitution T G upstream_gene_variant ESAD-UK 17 79654701 79654701 single base substitution G T intron_variant ESAD-UK 17 79654701 79654701 single base substitution G T upstream_gene_variant ESAD-UK 17 79655217 79655217 single base substitution G A intron_variant ESAD-UK 17 79655217 79655217 single base substitution G A upstream_gene_variant ESAD-UK 17 79658963 79658963 single base substitution G T downstream_gene_variant ESAD-UK 17 79658963 79658963 single base substitution G T exon_variant ESAD-UK 17 79658963 79658963 single base substitution G T intron_variant ESAD-UK 17 79658963 79658963 single base substitution G T upstream_gene_variant ESAD-UK 17 79659189 79659189 single base substitution T C downstream_gene_variant ESAD-UK 17 79659189 79659189 single base substitution T C exon_variant ESAD-UK 17 79659189 79659189 single base substitution T C intron_variant ESAD-UK 17 79659189 79659189 single base substitution T C upstream_gene_variant ESAD-UK 17 79659239 79659239 single base substitution G A downstream_gene_variant ESAD-UK 17 79659239 79659239 single base substitution G A exon_variant ESAD-UK 17 79659239 79659239 single base substitution G A intron_variant ESAD-UK 17 79659239 79659239 single base substitution G A upstream_gene_variant ESAD-UK 17 79659660 79659660 single base substitution G A downstream_gene_variant ESAD-UK 17 79659660 79659660 single base substitution G A exon_variant ESAD-UK 17 79659660 79659660 single base substitution G A intron_variant ESAD-UK 17 79659660 79659660 single base substitution G A upstream_gene_variant ESAD-UK 17 79661160 79661160 single base substitution C T downstream_gene_variant ESAD-UK 17 79661160 79661160 single base substitution C T intron_variant ESAD-UK 17 79661160 79661160 single base substitution C T upstream_gene_variant ESAD-UK 17 79663588 79663588 single base substitution G T downstream_gene_variant ESAD-UK 17 79663588 79663588 single base substitution G T exon_variant ESAD-UK 17 79663588 79663588 single base substitution G T intron_variant ESAD-UK 17 79663588 79663588 single base substitution G T upstream_gene_variant ESAD-UK 17 79664214 79664214 single base substitution C T downstream_gene_variant ESAD-UK 17 79664214 79664214 single base substitution C T exon_variant ESAD-UK 17 79664214 79664214 single base substitution C T intron_variant ESAD-UK 17 79664214 79664214 single base substitution C T upstream_gene_variant ESAD-UK 17 79664241 79664241 single base substitution C T downstream_gene_variant ESAD-UK 17 79664241 79664241 single base substitution C T exon_variant ESAD-UK 17 79664241 79664241 single base substitution C T intron_variant ESAD-UK 17 79664241 79664241 single base substitution C T upstream_gene_variant ESAD-UK 17 79666353 79666353 single base substitution C A downstream_gene_variant ESAD-UK 17 79666353 79666353 single base substitution C A intron_variant ESAD-UK 17 79666353 79666353 single base substitution C A upstream_gene_variant ESAD-UK 17 79669687 79669687 single base substitution A G downstream_gene_variant ESAD-UK 17 79669687 79669687 single base substitution A G intron_variant ESAD-UK 17 79670264 79670264 single base substitution C T downstream_gene_variant ESAD-UK 17 79672860 79672860 single base substitution A G downstream_gene_variant ESAD-UK 17 79675060 79675060 single base substitution C G downstream_gene_variant ESCA-CN 17 79663545 79663545 single base substitution C T downstream_gene_variant ESCA-CN 17 79663545 79663545 single base substitution C T exon_variant ESCA-CN 17 79663545 79663545 single base substitution C T missense_variant R187W 559C>T ESCA-CN 17 79663545 79663545 single base substitution C T missense_variant R518W 1552C>T ESCA-CN 17 79663545 79663545 single base substitution C T upstream_gene_variant ESCA-CN 17 79663880 79663880 single base substitution T C downstream_gene_variant ESCA-CN 17 79663880 79663880 single base substitution T C exon_variant ESCA-CN 17 79663880 79663880 single base substitution T C intron_variant ESCA-CN 17 79663880 79663880 single base substitution T C synonymous_variant G247G 741T>C ESCA-CN 17 79663880 79663880 single base substitution T C synonymous_variant G578G 1734T>C ESCA-CN 17 79663880 79663880 single base substitution T C upstream_gene_variant ESCA-CN 17 79663931 79663931 single base substitution T C downstream_gene_variant ESCA-CN 17 79663931 79663931 single base substitution T C exon_variant ESCA-CN 17 79663931 79663931 single base substitution T C intron_variant ESCA-CN 17 79663931 79663931 single base substitution T C synonymous_variant P264P 792T>C ESCA-CN 17 79663931 79663931 single base substitution T C synonymous_variant P595P 1785T>C ESCA-CN 17 79663931 79663931 single base substitution T C upstream_gene_variant KIRC-US 17 79650800 79650800 deletion of <=200bp C - intron_variant KIRC-US 17 79650800 79650800 deletion of <=200bp C - upstream_gene_variant KIRC-US 17 79652641 79652641 single base substitution C T 5_prime_UTR_variant KIRC-US 17 79652641 79652641 single base substitution C T exon_variant KIRC-US 17 79652641 79652641 single base substitution C T missense_variant A15V 44C>T KIRC-US 17 79652641 79652641 single base substitution C T upstream_gene_variant KIRC-US 17 79667601 79667601 single base substitution T C downstream_gene_variant KIRC-US 17 79667601 79667601 single base substitution T C exon_variant KIRC-US 17 79667601 79667601 single base substitution T C intron_variant KIRC-US 17 79667601 79667601 single base substitution T C missense_variant Y663H 1987T>C KIRC-US 17 79667601 79667601 single base substitution T C upstream_gene_variant LAML-KR 17 79653311 79653311 single base substitution T C exon_variant LAML-KR 17 79653311 79653311 single base substitution T C intron_variant LAML-KR 17 79653311 79653311 single base substitution T C upstream_gene_variant LAML-KR 17 79653321 79653321 single base substitution T C exon_variant LAML-KR 17 79653321 79653321 single base substitution T C intron_variant LAML-KR 17 79653321 79653321 single base substitution T C upstream_gene_variant LAML-KR 17 79653880 79653880 single base substitution C T intron_variant LAML-KR 17 79653880 79653880 single base substitution C T upstream_gene_variant LAML-KR 17 79657673 79657673 single base substitution G A downstream_gene_variant LAML-KR 17 79657673 79657673 single base substitution G A intron_variant LAML-KR 17 79657673 79657673 single base substitution G A upstream_gene_variant LAML-KR 17 79664083 79664083 single base substitution C T downstream_gene_variant LAML-KR 17 79664083 79664083 single base substitution C T exon_variant LAML-KR 17 79664083 79664083 single base substitution C T intron_variant LAML-KR 17 79664083 79664083 single base substitution C T upstream_gene_variant LAML-KR 17 79667154 79667154 single base substitution T C downstream_gene_variant LAML-KR 17 79667154 79667154 single base substitution T C intron_variant LAML-KR 17 79667154 79667154 single base substitution T C upstream_gene_variant LGG-US 17 79653396 79653396 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LGG-US 17 79653396 79653396 single base substitution C T exon_variant LGG-US 17 79653396 79653396 single base substitution C T synonymous_variant H59H 177C>T LGG-US 17 79653396 79653396 single base substitution C T upstream_gene_variant LGG-US 17 79657241 79657241 single base substitution G A downstream_gene_variant LGG-US 17 79657241 79657241 single base substitution G A exon_variant LGG-US 17 79657241 79657241 single base substitution G A missense_variant D133N 397G>A LGG-US 17 79657241 79657241 single base substitution G A missense_variant D149N 445G>A LGG-US 17 79657241 79657241 single base substitution G A upstream_gene_variant LGG-US 17 79660715 79660717 deletion of <=200bp AGG - downstream_gene_variant LGG-US 17 79660715 79660717 deletion of <=200bp AGG - exon_variant LGG-US 17 79660715 79660717 deletion of <=200bp AGG - inframe_deletion QE242Q LGG-US 17 79660715 79660717 deletion of <=200bp AGG - inframe_deletion QE258Q LGG-US 17 79660715 79660717 deletion of <=200bp AGG - upstream_gene_variant LGG-US 17 79674051 79674051 single base substitution A G downstream_gene_variant LICA-CN 17 79662074 79662074 single base substitution G A downstream_gene_variant LICA-CN 17 79662074 79662074 single base substitution G A exon_variant LICA-CN 17 79662074 79662074 single base substitution G A missense_variant A366T 1096G>A LICA-CN 17 79662074 79662074 single base substitution G A missense_variant A86T 256G>A LICA-CN 17 79662074 79662074 single base substitution G A upstream_gene_variant LICA-CN 17 79668164 79668164 single base substitution G A downstream_gene_variant LICA-CN 17 79668164 79668164 single base substitution G A intron_variant LICA-CN 17 79668164 79668164 single base substitution G A splice_region_variant LICA-FR 17 79646754 79646755 deletion of <=200bp AA - upstream_gene_variant LICA-FR 17 79671724 79671724 single base substitution T C downstream_gene_variant LICA-FR 17 79672420 79672420 deletion of <=200bp A - downstream_gene_variant LIHC-US 17 79660939 79660939 deletion of <=200bp C - downstream_gene_variant LIHC-US 17 79660939 79660939 deletion of <=200bp C - exon_variant LIHC-US 17 79660939 79660939 deletion of <=200bp C - frameshift_variant P14 LIHC-US 17 79660939 79660939 deletion of <=200bp C - frameshift_variant P294 LIHC-US 17 79660939 79660939 deletion of <=200bp C - upstream_gene_variant LIHC-US 17 79663472 79663472 single base substitution G T downstream_gene_variant LIHC-US 17 79663472 79663472 single base substitution G T exon_variant LIHC-US 17 79663472 79663472 single base substitution G T missense_variant E162D 486G>T LIHC-US 17 79663472 79663472 single base substitution G T missense_variant E493D 1479G>T LIHC-US 17 79663472 79663472 single base substitution G T upstream_gene_variant LIHC-US 17 79663473 79663473 single base substitution A T downstream_gene_variant LIHC-US 17 79663473 79663473 single base substitution A T exon_variant LIHC-US 17 79663473 79663473 single base substitution A T stop_gained K163* 487A>T LIHC-US 17 79663473 79663473 single base substitution A T stop_gained K494* 1480A>T LIHC-US 17 79663473 79663473 single base substitution A T upstream_gene_variant LINC-JP 17 79650910 79650910 single base substitution G T intron_variant LINC-JP 17 79650910 79650910 single base substitution G T upstream_gene_variant LINC-JP 17 79650911 79650911 single base substitution G T intron_variant LINC-JP 17 79650911 79650911 single base substitution G T upstream_gene_variant LINC-JP 17 79652551 79652551 deletion of <=200bp C - intron_variant LINC-JP 17 79652551 79652551 deletion of <=200bp C - upstream_gene_variant LINC-JP 17 79667668 79667668 single base substitution C G downstream_gene_variant LINC-JP 17 79667668 79667668 single base substitution C G intron_variant LINC-JP 17 79667668 79667668 single base substitution C G upstream_gene_variant LINC-JP 17 79667669 79667669 single base substitution C G downstream_gene_variant LINC-JP 17 79667669 79667669 single base substitution C G intron_variant LINC-JP 17 79667669 79667669 single base substitution C G upstream_gene_variant LINC-JP 17 79667979 79667979 single base substitution T G downstream_gene_variant LINC-JP 17 79667979 79667979 single base substitution T G intron_variant LINC-JP 17 79667979 79667979 single base substitution T G upstream_gene_variant LINC-JP 17 79672222 79672222 single base substitution C A downstream_gene_variant LINC-JP 17 79672223 79672223 single base substitution A T downstream_gene_variant LIRI-JP 17 79647400 79647400 single base substitution C T upstream_gene_variant LIRI-JP 17 79648998 79648998 single base substitution C T upstream_gene_variant LIRI-JP 17 79649088 79649088 single base substitution G A upstream_gene_variant LIRI-JP 17 79649862 79649862 single base substitution A G upstream_gene_variant LIRI-JP 17 79650025 79650025 single base substitution T C upstream_gene_variant LIRI-JP 17 79668182 79668182 single base substitution C T downstream_gene_variant LIRI-JP 17 79668182 79668182 single base substitution C T intron_variant LIRI-JP 17 79669777 79669777 single base substitution C G downstream_gene_variant LIRI-JP 17 79669777 79669777 single base substitution C G intron_variant LIRI-JP 17 79672210 79672213 deletion of <=200bp CAAA - downstream_gene_variant LIRI-JP 17 79674029 79674029 single base substitution A G downstream_gene_variant LUSC-KR 17 79648527 79648527 single base substitution A G upstream_gene_variant LUSC-KR 17 79648909 79648909 single base substitution G A upstream_gene_variant LUSC-KR 17 79650181 79650181 single base substitution A G upstream_gene_variant LUSC-KR 17 79650828 79650828 single base substitution T G intron_variant LUSC-KR 17 79650828 79650828 single base substitution T G upstream_gene_variant LUSC-KR 17 79650992 79650992 single base substitution T A 5_prime_UTR_variant LUSC-KR 17 79650992 79650992 single base substitution T A intron_variant LUSC-KR 17 79650992 79650992 single base substitution T A upstream_gene_variant LUSC-KR 17 79651067 79651067 single base substitution C G 5_prime_UTR_variant LUSC-KR 17 79651067 79651067 single base substitution C G exon_variant LUSC-KR 17 79651067 79651067 single base substitution C G intron_variant LUSC-KR 17 79651067 79651067 single base substitution C G upstream_gene_variant LUSC-KR 17 79652487 79652487 single base substitution C T intron_variant LUSC-KR 17 79652487 79652487 single base substitution C T upstream_gene_variant LUSC-KR 17 79653206 79653206 single base substitution C A intron_variant LUSC-KR 17 79653206 79653206 single base substitution C A upstream_gene_variant LUSC-KR 17 79653259 79653259 single base substitution C T intron_variant LUSC-KR 17 79653259 79653259 single base substitution C T upstream_gene_variant LUSC-KR 17 79653311 79653311 single base substitution T C exon_variant LUSC-KR 17 79653311 79653311 single base substitution T C intron_variant LUSC-KR 17 79653311 79653311 single base substitution T C upstream_gene_variant LUSC-KR 17 79653321 79653321 single base substitution T C exon_variant LUSC-KR 17 79653321 79653321 single base substitution T C intron_variant LUSC-KR 17 79653321 79653321 single base substitution T C upstream_gene_variant LUSC-KR 17 79653716 79653716 single base substitution A G intron_variant LUSC-KR 17 79653716 79653716 single base substitution A G upstream_gene_variant LUSC-KR 17 79653859 79653859 single base substitution T A intron_variant LUSC-KR 17 79653859 79653859 single base substitution T A upstream_gene_variant LUSC-KR 17 79657107 79657107 single base substitution T C downstream_gene_variant LUSC-KR 17 79657107 79657107 single base substitution T C intron_variant LUSC-KR 17 79657107 79657107 single base substitution T C upstream_gene_variant LUSC-KR 17 79658412 79658412 single base substitution T G downstream_gene_variant LUSC-KR 17 79658412 79658412 single base substitution T G exon_variant LUSC-KR 17 79658412 79658412 single base substitution T G intron_variant LUSC-KR 17 79658412 79658412 single base substitution T G upstream_gene_variant LUSC-KR 17 79661899 79661899 single base substitution G T downstream_gene_variant LUSC-KR 17 79661899 79661899 single base substitution G T exon_variant LUSC-KR 17 79661899 79661899 single base substitution G T intron_variant LUSC-KR 17 79661899 79661899 single base substitution G T upstream_gene_variant LUSC-KR 17 79662067 79662067 single base substitution A G downstream_gene_variant LUSC-KR 17 79662067 79662067 single base substitution A G exon_variant LUSC-KR 17 79662067 79662067 single base substitution A G synonymous_variant E363E 1089A>G LUSC-KR 17 79662067 79662067 single base substitution A G synonymous_variant E83E 249A>G LUSC-KR 17 79662067 79662067 single base substitution A G upstream_gene_variant LUSC-KR 17 79663880 79663880 single base substitution T C downstream_gene_variant LUSC-KR 17 79663880 79663880 single base substitution T C exon_variant LUSC-KR 17 79663880 79663880 single base substitution T C intron_variant LUSC-KR 17 79663880 79663880 single base substitution T C synonymous_variant G247G 741T>C LUSC-KR 17 79663880 79663880 single base substitution T C synonymous_variant G578G 1734T>C LUSC-KR 17 79663880 79663880 single base substitution T C upstream_gene_variant LUSC-KR 17 79663931 79663931 single base substitution T C downstream_gene_variant LUSC-KR 17 79663931 79663931 single base substitution T C exon_variant LUSC-KR 17 79663931 79663931 single base substitution T C intron_variant LUSC-KR 17 79663931 79663931 single base substitution T C synonymous_variant P264P 792T>C LUSC-KR 17 79663931 79663931 single base substitution T C synonymous_variant P595P 1785T>C LUSC-KR 17 79663931 79663931 single base substitution T C upstream_gene_variant LUSC-KR 17 79668135 79668135 single base substitution G T downstream_gene_variant LUSC-KR 17 79668135 79668135 single base substitution G T exon_variant LUSC-KR 17 79668135 79668135 single base substitution G T intron_variant LUSC-KR 17 79668135 79668135 single base substitution G T missense_variant A28S 82G>T LUSC-KR 17 79668135 79668135 single base substitution G T missense_variant A67S 199G>T LUSC-KR 17 79668135 79668135 single base substitution G T missense_variant A733S 2197G>T LUSC-KR 17 79668135 79668135 single base substitution G T upstream_gene_variant LUSC-KR 17 79668226 79668226 single base substitution A G downstream_gene_variant LUSC-KR 17 79668226 79668226 single base substitution A G intron_variant LUSC-KR 17 79668552 79668552 single base substitution C T downstream_gene_variant LUSC-KR 17 79668552 79668552 single base substitution C T exon_variant LUSC-KR 17 79668552 79668552 single base substitution C T intron_variant LUSC-KR 17 79668552 79668552 single base substitution C T synonymous_variant G746G 2238C>T LUSC-KR 17 79668664 79668664 single base substitution C T 3_prime_UTR_variant LUSC-KR 17 79668664 79668664 single base substitution C T downstream_gene_variant LUSC-KR 17 79668664 79668664 single base substitution C T intron_variant LUSC-KR 17 79670273 79670273 single base substitution T C downstream_gene_variant LUSC-KR 17 79670386 79670386 single base substitution A G downstream_gene_variant LUSC-KR 17 79671208 79671208 single base substitution T C downstream_gene_variant LUSC-KR 17 79671714 79671714 single base substitution T C downstream_gene_variant LUSC-KR 17 79672049 79672049 single base substitution G C downstream_gene_variant LUSC-KR 17 79672119 79672119 single base substitution A G downstream_gene_variant LUSC-KR 17 79672375 79672375 single base substitution C A downstream_gene_variant LUSC-KR 17 79672970 79672970 single base substitution G T downstream_gene_variant LUSC-KR 17 79673011 79673011 single base substitution G A downstream_gene_variant LUSC-KR 17 79673228 79673228 single base substitution C T downstream_gene_variant LUSC-KR 17 79673719 79673719 single base substitution G C downstream_gene_variant LUSC-KR 17 79674281 79674281 single base substitution G T downstream_gene_variant LUSC-KR 17 79674889 79674889 single base substitution G T downstream_gene_variant LUSC-US 17 79658588 79658588 single base substitution G C downstream_gene_variant LUSC-US 17 79658588 79658588 single base substitution G C exon_variant LUSC-US 17 79658588 79658588 single base substitution G C missense_variant E201Q 601G>C LUSC-US 17 79658588 79658588 single base substitution G C missense_variant E217Q 649G>C LUSC-US 17 79658588 79658588 single base substitution G C upstream_gene_variant LUSC-US 17 79667556 79667556 single base substitution C T downstream_gene_variant LUSC-US 17 79667556 79667556 single base substitution C T exon_variant LUSC-US 17 79667556 79667556 single base substitution C T intron_variant LUSC-US 17 79667556 79667556 single base substitution C T missense_variant P648S 1942C>T LUSC-US 17 79667556 79667556 single base substitution C T upstream_gene_variant LUSC-US 17 79668078 79668078 single base substitution C T downstream_gene_variant LUSC-US 17 79668078 79668078 single base substitution C T exon_variant LUSC-US 17 79668078 79668078 single base substitution C T intron_variant LUSC-US 17 79668078 79668078 single base substitution C T missense_variant L48F 142C>T LUSC-US 17 79668078 79668078 single base substitution C T missense_variant L714F 2140C>T LUSC-US 17 79668078 79668078 single base substitution C T missense_variant L9F 25C>T LUSC-US 17 79668078 79668078 single base substitution C T upstream_gene_variant LUSC-US 17 79671373 79671373 single base substitution G T downstream_gene_variant LUSC-US 17 79671382 79671382 single base substitution C T downstream_gene_variant MALY-DE 17 79647077 79647077 single base substitution A G upstream_gene_variant MALY-DE 17 79659584 79659584 single base substitution G A downstream_gene_variant MALY-DE 17 79659584 79659584 single base substitution G A exon_variant MALY-DE 17 79659584 79659584 single base substitution G A intron_variant MALY-DE 17 79659584 79659584 single base substitution G A upstream_gene_variant MALY-DE 17 79669150 79669150 single base substitution C A downstream_gene_variant MALY-DE 17 79669150 79669150 single base substitution C A intron_variant MALY-DE 17 79670213 79670213 single base substitution G C downstream_gene_variant MALY-DE 17 79670534 79670534 single base substitution G A downstream_gene_variant MALY-DE 17 79673461 79673461 single base substitution C G downstream_gene_variant MALY-DE 17 79675094 79675094 single base substitution C T downstream_gene_variant MALY-DE 17 79675134 79675134 single base substitution A G downstream_gene_variant MELA-AU 17 79645929 79645929 single base substitution G A upstream_gene_variant MELA-AU 17 79646438 79646438 single base substitution A G upstream_gene_variant MELA-AU 17 79646672 79646672 single base substitution G A upstream_gene_variant MELA-AU 17 79647064 79647064 single base substitution G A upstream_gene_variant MELA-AU 17 79648215 79648215 single base substitution G T upstream_gene_variant MELA-AU 17 79648450 79648450 single base substitution C T upstream_gene_variant MELA-AU 17 79648451 79648451 single base substitution G A upstream_gene_variant MELA-AU 17 79648857 79648857 single base substitution G A upstream_gene_variant MELA-AU 17 79648917 79648917 single base substitution G A upstream_gene_variant MELA-AU 17 79648990 79648990 single base substitution G A upstream_gene_variant MELA-AU 17 79649055 79649055 single base substitution G A upstream_gene_variant MELA-AU 17 79649259 79649259 single base substitution G A upstream_gene_variant MELA-AU 17 79649961 79649961 single base substitution C A upstream_gene_variant MELA-AU 17 79650237 79650237 single base substitution C T upstream_gene_variant MELA-AU 17 79650589 79650589 single base substitution C A 5_prime_UTR_variant MELA-AU 17 79650589 79650589 single base substitution C A upstream_gene_variant MELA-AU 17 79650763 79650766 deletion of <=200bp GGCC - intron_variant MELA-AU 17 79650763 79650766 deletion of <=200bp GGCC - upstream_gene_variant MELA-AU 17 79650840 79650840 single base substitution C T intron_variant MELA-AU 17 79650840 79650840 single base substitution C T upstream_gene_variant MELA-AU 17 79650844 79650844 single base substitution G A intron_variant MELA-AU 17 79650844 79650844 single base substitution G A upstream_gene_variant MELA-AU 17 79650847 79650847 single base substitution C T intron_variant MELA-AU 17 79650847 79650847 single base substitution C T upstream_gene_variant MELA-AU 17 79650865 79650865 single base substitution C T intron_variant MELA-AU 17 79650865 79650865 single base substitution C T upstream_gene_variant MELA-AU 17 79650870 79650870 single base substitution C T intron_variant MELA-AU 17 79650870 79650870 single base substitution C T upstream_gene_variant MELA-AU 17 79650952 79650952 single base substitution G A intron_variant MELA-AU 17 79650952 79650952 single base substitution G A upstream_gene_variant MELA-AU 17 79650962 79650962 single base substitution C T 5_prime_UTR_variant MELA-AU 17 79650962 79650962 single base substitution C T intron_variant MELA-AU 17 79650962 79650962 single base substitution C T upstream_gene_variant MELA-AU 17 79651013 79651013 single base substitution G A 5_prime_UTR_variant MELA-AU 17 79651013 79651013 single base substitution G A exon_variant MELA-AU 17 79651013 79651013 single base substitution G A intron_variant MELA-AU 17 79651013 79651013 single base substitution G A upstream_gene_variant MELA-AU 17 79651022 79651022 single base substitution G A 5_prime_UTR_variant MELA-AU 17 79651022 79651022 single base substitution G A exon_variant MELA-AU 17 79651022 79651022 single base substitution G A intron_variant MELA-AU 17 79651022 79651022 single base substitution G A upstream_gene_variant MELA-AU 17 79651395 79651395 single base substitution C T 5_prime_UTR_variant MELA-AU 17 79651395 79651395 single base substitution C T intron_variant MELA-AU 17 79651395 79651395 single base substitution C T upstream_gene_variant MELA-AU 17 79652127 79652127 single base substitution C T intron_variant MELA-AU 17 79652127 79652127 single base substitution C T upstream_gene_variant MELA-AU 17 79653305 79653305 single base substitution C T exon_variant MELA-AU 17 79653305 79653305 single base substitution C T intron_variant MELA-AU 17 79653305 79653305 single base substitution C T upstream_gene_variant MELA-AU 17 79653793 79653793 single base substitution C T intron_variant MELA-AU 17 79653793 79653793 single base substitution C T upstream_gene_variant MELA-AU 17 79653845 79653845 single base substitution C T intron_variant MELA-AU 17 79653845 79653845 single base substitution C T upstream_gene_variant MELA-AU 17 79653880 79653880 single base substitution C T intron_variant MELA-AU 17 79653880 79653880 single base substitution C T upstream_gene_variant MELA-AU 17 79653983 79653983 single base substitution G A intron_variant MELA-AU 17 79653983 79653983 single base substitution G A upstream_gene_variant MELA-AU 17 79654246 79654246 single base substitution C T intron_variant MELA-AU 17 79654246 79654246 single base substitution C T upstream_gene_variant MELA-AU 17 79654796 79654796 single base substitution C T intron_variant MELA-AU 17 79654796 79654796 single base substitution C T upstream_gene_variant MELA-AU 17 79654949 79654949 single base substitution C T intron_variant MELA-AU 17 79654949 79654949 single base substitution C T upstream_gene_variant MELA-AU 17 79655215 79655216 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 17 79655215 79655216 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 17 79655633 79655633 single base substitution C T intron_variant MELA-AU 17 79655633 79655633 single base substitution C T upstream_gene_variant MELA-AU 17 79655676 79655676 single base substitution C T intron_variant MELA-AU 17 79655676 79655676 single base substitution C T upstream_gene_variant MELA-AU 17 79655715 79655716 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79655715 79655716 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79656027 79656027 single base substitution G A downstream_gene_variant MELA-AU 17 79656027 79656027 single base substitution G A intron_variant MELA-AU 17 79656027 79656027 single base substitution G A upstream_gene_variant MELA-AU 17 79656078 79656078 single base substitution G T downstream_gene_variant MELA-AU 17 79656078 79656078 single base substitution G T intron_variant MELA-AU 17 79656078 79656078 single base substitution G T upstream_gene_variant MELA-AU 17 79657615 79657615 single base substitution C T downstream_gene_variant MELA-AU 17 79657615 79657615 single base substitution C T exon_variant MELA-AU 17 79657615 79657615 single base substitution C T intron_variant MELA-AU 17 79657615 79657615 single base substitution C T upstream_gene_variant MELA-AU 17 79657821 79657821 single base substitution C T downstream_gene_variant MELA-AU 17 79657821 79657821 single base substitution C T exon_variant MELA-AU 17 79657821 79657821 single base substitution C T intron_variant MELA-AU 17 79657821 79657821 single base substitution C T upstream_gene_variant MELA-AU 17 79657845 79657845 single base substitution C T downstream_gene_variant MELA-AU 17 79657845 79657845 single base substitution C T exon_variant MELA-AU 17 79657845 79657845 single base substitution C T intron_variant MELA-AU 17 79657845 79657845 single base substitution C T upstream_gene_variant MELA-AU 17 79658320 79658320 single base substitution C T downstream_gene_variant MELA-AU 17 79658320 79658320 single base substitution C T exon_variant MELA-AU 17 79658320 79658320 single base substitution C T intron_variant MELA-AU 17 79658320 79658320 single base substitution C T upstream_gene_variant MELA-AU 17 79658481 79658481 single base substitution A G downstream_gene_variant MELA-AU 17 79658481 79658481 single base substitution A G exon_variant MELA-AU 17 79658481 79658481 single base substitution A G missense_variant H165R 494A>G MELA-AU 17 79658481 79658481 single base substitution A G missense_variant H181R 542A>G MELA-AU 17 79658481 79658481 single base substitution A G upstream_gene_variant MELA-AU 17 79659214 79659214 single base substitution C T downstream_gene_variant MELA-AU 17 79659214 79659214 single base substitution C T exon_variant MELA-AU 17 79659214 79659214 single base substitution C T intron_variant MELA-AU 17 79659214 79659214 single base substitution C T upstream_gene_variant MELA-AU 17 79659506 79659506 single base substitution C T downstream_gene_variant MELA-AU 17 79659506 79659506 single base substitution C T exon_variant MELA-AU 17 79659506 79659506 single base substitution C T intron_variant MELA-AU 17 79659506 79659506 single base substitution C T upstream_gene_variant MELA-AU 17 79659512 79659512 single base substitution C T downstream_gene_variant MELA-AU 17 79659512 79659512 single base substitution C T exon_variant MELA-AU 17 79659512 79659512 single base substitution C T intron_variant MELA-AU 17 79659512 79659512 single base substitution C T upstream_gene_variant MELA-AU 17 79660146 79660147 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 79660146 79660147 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 79660146 79660147 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79660235 79660235 single base substitution C T downstream_gene_variant MELA-AU 17 79660235 79660235 single base substitution C T intron_variant MELA-AU 17 79660235 79660235 single base substitution C T upstream_gene_variant MELA-AU 17 79660243 79660243 single base substitution C T downstream_gene_variant MELA-AU 17 79660243 79660243 single base substitution C T intron_variant MELA-AU 17 79660243 79660243 single base substitution C T upstream_gene_variant MELA-AU 17 79661020 79661021 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 79661020 79661021 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79661020 79661021 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79661103 79661103 single base substitution C T downstream_gene_variant MELA-AU 17 79661103 79661103 single base substitution C T intron_variant MELA-AU 17 79661103 79661103 single base substitution C T upstream_gene_variant MELA-AU 17 79661314 79661314 single base substitution C T downstream_gene_variant MELA-AU 17 79661314 79661314 single base substitution C T intron_variant MELA-AU 17 79661314 79661314 single base substitution C T upstream_gene_variant MELA-AU 17 79662784 79662784 single base substitution C G downstream_gene_variant MELA-AU 17 79662784 79662784 single base substitution C G exon_variant MELA-AU 17 79662784 79662784 single base substitution C G intron_variant MELA-AU 17 79662784 79662784 single base substitution C G upstream_gene_variant MELA-AU 17 79663192 79663192 single base substitution C T downstream_gene_variant MELA-AU 17 79663192 79663192 single base substitution C T exon_variant MELA-AU 17 79663192 79663192 single base substitution C T intron_variant MELA-AU 17 79663192 79663192 single base substitution C T upstream_gene_variant MELA-AU 17 79663631 79663631 single base substitution G A downstream_gene_variant MELA-AU 17 79663631 79663631 single base substitution G A exon_variant MELA-AU 17 79663631 79663631 single base substitution G A intron_variant MELA-AU 17 79663631 79663631 single base substitution G A splice_region_variant MELA-AU 17 79663631 79663631 single base substitution G A upstream_gene_variant MELA-AU 17 79664807 79664808 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 79664807 79664808 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 79664807 79664808 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79664807 79664808 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79664917 79664917 single base substitution G T downstream_gene_variant MELA-AU 17 79664917 79664917 single base substitution G T exon_variant MELA-AU 17 79664917 79664917 single base substitution G T intron_variant MELA-AU 17 79664917 79664917 single base substitution G T upstream_gene_variant MELA-AU 17 79665280 79665280 single base substitution T C downstream_gene_variant MELA-AU 17 79665280 79665280 single base substitution T C exon_variant MELA-AU 17 79665280 79665280 single base substitution T C intron_variant MELA-AU 17 79665280 79665280 single base substitution T C upstream_gene_variant MELA-AU 17 79667755 79667755 single base substitution C A downstream_gene_variant MELA-AU 17 79667755 79667755 single base substitution C A exon_variant MELA-AU 17 79667755 79667755 single base substitution C A intron_variant MELA-AU 17 79667755 79667755 single base substitution C A missense_variant P17T 49C>A MELA-AU 17 79667755 79667755 single base substitution C A missense_variant P683T 2047C>A MELA-AU 17 79667755 79667755 single base substitution C A upstream_gene_variant MELA-AU 17 79667854 79667855 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 79667854 79667855 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79667854 79667855 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79668424 79668424 single base substitution C T downstream_gene_variant MELA-AU 17 79668424 79668424 single base substitution C T intron_variant MELA-AU 17 79670234 79670234 single base substitution G A downstream_gene_variant MELA-AU 17 79670494 79670494 single base substitution C T downstream_gene_variant MELA-AU 17 79670781 79670781 single base substitution C T downstream_gene_variant MELA-AU 17 79671056 79671056 single base substitution G A downstream_gene_variant MELA-AU 17 79671807 79671807 single base substitution C T downstream_gene_variant MELA-AU 17 79671897 79671897 single base substitution C T downstream_gene_variant MELA-AU 17 79672227 79672227 single base substitution T C downstream_gene_variant MELA-AU 17 79672233 79672233 single base substitution A G downstream_gene_variant MELA-AU 17 79672849 79672849 single base substitution C T downstream_gene_variant MELA-AU 17 79673545 79673545 single base substitution C T downstream_gene_variant MELA-AU 17 79673915 79673915 single base substitution C T downstream_gene_variant MELA-AU 17 79673929 79673929 single base substitution C T downstream_gene_variant MELA-AU 17 79673971 79673971 single base substitution G A downstream_gene_variant MELA-AU 17 79675128 79675128 single base substitution C T downstream_gene_variant ORCA-IN 17 79646686 79646686 single base substitution G C upstream_gene_variant ORCA-IN 17 79650844 79650844 single base substitution G T intron_variant ORCA-IN 17 79650844 79650844 single base substitution G T upstream_gene_variant OV-AU 17 79646561 79646561 single base substitution C T upstream_gene_variant OV-AU 17 79648999 79648999 single base substitution T A upstream_gene_variant OV-AU 17 79664724 79664724 single base substitution G A downstream_gene_variant OV-AU 17 79664724 79664724 single base substitution G A exon_variant OV-AU 17 79664724 79664724 single base substitution G A intron_variant OV-AU 17 79664724 79664724 single base substitution G A upstream_gene_variant OV-AU 17 79668838 79668838 single base substitution T A 3_prime_UTR_variant OV-AU 17 79668838 79668838 single base substitution T A downstream_gene_variant OV-AU 17 79668838 79668838 single base substitution T A intron_variant OV-AU 17 79670880 79670880 single base substitution T G downstream_gene_variant OV-US 17 79653372 79653372 single base substitution G A 5_prime_UTR_variant OV-US 17 79653372 79653372 single base substitution G A exon_variant OV-US 17 79653372 79653372 single base substitution G A synonymous_variant K51K 153G>A OV-US 17 79653372 79653372 single base substitution G A upstream_gene_variant PACA-AU 17 79650751 79650751 single base substitution C A intron_variant PACA-AU 17 79650751 79650751 single base substitution C A upstream_gene_variant PACA-AU 17 79655790 79655790 single base substitution G A exon_variant PACA-AU 17 79655790 79655790 single base substitution G A synonymous_variant A100A 300G>A PACA-AU 17 79655790 79655790 single base substitution G A synonymous_variant A116A 348G>A PACA-AU 17 79655790 79655790 single base substitution G A synonymous_variant A49A 147G>A PACA-AU 17 79655790 79655790 single base substitution G A upstream_gene_variant PACA-AU 17 79656199 79656199 single base substitution C T downstream_gene_variant PACA-AU 17 79656199 79656199 single base substitution C T intron_variant PACA-AU 17 79656199 79656199 single base substitution C T upstream_gene_variant PACA-AU 17 79659673 79659673 deletion of <=200bp G - downstream_gene_variant PACA-AU 17 79659673 79659673 deletion of <=200bp G - exon_variant PACA-AU 17 79659673 79659673 deletion of <=200bp G - intron_variant PACA-AU 17 79659673 79659673 deletion of <=200bp G - upstream_gene_variant PACA-AU 17 79660978 79660978 single base substitution C T downstream_gene_variant PACA-AU 17 79660978 79660978 single base substitution C T exon_variant PACA-AU 17 79660978 79660978 single base substitution C T synonymous_variant L27L 79C>T PACA-AU 17 79660978 79660978 single base substitution C T synonymous_variant L307L 919C>T PACA-AU 17 79660978 79660978 single base substitution C T upstream_gene_variant PACA-AU 17 79661973 79661973 single base substitution G A downstream_gene_variant PACA-AU 17 79661973 79661973 single base substitution G A exon_variant PACA-AU 17 79661973 79661973 single base substitution G A missense_variant R332Q 995G>A PACA-AU 17 79661973 79661973 single base substitution G A missense_variant R52Q 155G>A PACA-AU 17 79661973 79661973 single base substitution G A upstream_gene_variant PACA-AU 17 79662267 79662267 single base substitution C T downstream_gene_variant PACA-AU 17 79662267 79662267 single base substitution C T intron_variant PACA-AU 17 79662267 79662267 single base substitution C T upstream_gene_variant PACA-CA 17 79647086 79647086 single base substitution G A upstream_gene_variant PACA-CA 17 79648243 79648243 insertion of <=200bp - T upstream_gene_variant PACA-CA 17 79649695 79649695 single base substitution G A upstream_gene_variant PACA-CA 17 79652657 79652657 single base substitution G T 5_prime_UTR_variant PACA-CA 17 79652657 79652657 single base substitution G T exon_variant PACA-CA 17 79652657 79652657 single base substitution G T synonymous_variant L20L 60G>T PACA-CA 17 79652657 79652657 single base substitution G T upstream_gene_variant PACA-CA 17 79657897 79657897 single base substitution G A downstream_gene_variant PACA-CA 17 79657897 79657897 single base substitution G A intron_variant PACA-CA 17 79657897 79657897 single base substitution G A upstream_gene_variant PACA-CA 17 79660969 79660969 single base substitution G A downstream_gene_variant PACA-CA 17 79660969 79660969 single base substitution G A exon_variant PACA-CA 17 79660969 79660969 single base substitution G A missense_variant A24T 70G>A PACA-CA 17 79660969 79660969 single base substitution G A missense_variant A304T 910G>A PACA-CA 17 79660969 79660969 single base substitution G A upstream_gene_variant PACA-CA 17 79661160 79661160 single base substitution C T downstream_gene_variant PACA-CA 17 79661160 79661160 single base substitution C T intron_variant PACA-CA 17 79661160 79661160 single base substitution C T upstream_gene_variant PACA-CA 17 79665139 79665139 single base substitution C A downstream_gene_variant PACA-CA 17 79665139 79665139 single base substitution C A exon_variant PACA-CA 17 79665139 79665139 single base substitution C A intron_variant PACA-CA 17 79665139 79665139 single base substitution C A upstream_gene_variant PACA-CA 17 79666762 79666762 deletion of <=200bp T - downstream_gene_variant PACA-CA 17 79666762 79666762 deletion of <=200bp T - intron_variant PACA-CA 17 79666762 79666762 deletion of <=200bp T - upstream_gene_variant PACA-CA 17 79671188 79671188 single base substitution T C downstream_gene_variant PACA-CA 17 79671574 79671574 single base substitution G T downstream_gene_variant PACA-CA 17 79671597 79671597 single base substitution G T downstream_gene_variant PACA-CA 17 79674250 79674250 single base substitution G A downstream_gene_variant PACA-CA 17 79674878 79674878 single base substitution G A downstream_gene_variant PAEN-AU 17 79660925 79660925 single base substitution A C downstream_gene_variant PAEN-AU 17 79660925 79660925 single base substitution A C exon_variant PAEN-AU 17 79660925 79660925 single base substitution A C missense_variant Y289S 866A>C PAEN-AU 17 79660925 79660925 single base substitution A C missense_variant Y9S 26A>C PAEN-AU 17 79660925 79660925 single base substitution A C upstream_gene_variant PBCA-DE 17 79650289 79650289 single base substitution C T upstream_gene_variant PBCA-DE 17 79650851 79650851 single base substitution C T intron_variant PBCA-DE 17 79650851 79650851 single base substitution C T upstream_gene_variant PBCA-DE 17 79653596 79653596 single base substitution T C intron_variant PBCA-DE 17 79653596 79653596 single base substitution T C upstream_gene_variant PBCA-DE 17 79665929 79665929 insertion of <=200bp - TC downstream_gene_variant PBCA-DE 17 79665929 79665929 insertion of <=200bp - TC intron_variant PBCA-DE 17 79665929 79665929 insertion of <=200bp - TC upstream_gene_variant PBCA-DE 17 79666822 79666823 deletion of <=200bp CC - downstream_gene_variant PBCA-DE 17 79666822 79666823 deletion of <=200bp CC - intron_variant PBCA-DE 17 79666822 79666823 deletion of <=200bp CC - upstream_gene_variant PBCA-DE 17 79666831 79666831 insertion of <=200bp - GC downstream_gene_variant PBCA-DE 17 79666831 79666831 insertion of <=200bp - GC intron_variant PBCA-DE 17 79666831 79666831 insertion of <=200bp - GC upstream_gene_variant PBCA-DE 17 79672223 79672223 single base substitution A T downstream_gene_variant PRAD-UK 17 79645822 79645822 single base substitution C T upstream_gene_variant PRAD-UK 17 79651109 79651109 single base substitution A G exon_variant PRAD-UK 17 79651109 79651109 single base substitution A G intron_variant PRAD-UK 17 79651109 79651109 single base substitution A G missense_variant S5G 13A>G PRAD-UK 17 79651109 79651109 single base substitution A G upstream_gene_variant PRAD-UK 17 79656546 79656547 deletion of <=200bp GA - downstream_gene_variant PRAD-UK 17 79656546 79656547 deletion of <=200bp GA - intron_variant PRAD-UK 17 79656546 79656547 deletion of <=200bp GA - upstream_gene_variant PRAD-UK 17 79670530 79670530 single base substitution C T downstream_gene_variant PRAD-US 17 79657219 79657219 single base substitution C A downstream_gene_variant PRAD-US 17 79657219 79657219 single base substitution C A exon_variant PRAD-US 17 79657219 79657219 single base substitution C A synonymous_variant V125V 375C>A PRAD-US 17 79657219 79657219 single base substitution C A synonymous_variant V141V 423C>A PRAD-US 17 79657219 79657219 single base substitution C A upstream_gene_variant READ-US 17 79663023 79663023 single base substitution C T downstream_gene_variant READ-US 17 79663023 79663023 single base substitution C T exon_variant READ-US 17 79663023 79663023 single base substitution C T missense_variant R132C 394C>T READ-US 17 79663023 79663023 single base substitution C T missense_variant R463C 1387C>T READ-US 17 79663023 79663023 single base substitution C T upstream_gene_variant RECA-EU 17 79645986 79645986 single base substitution C A upstream_gene_variant RECA-EU 17 79667957 79667957 single base substitution T C downstream_gene_variant RECA-EU 17 79667957 79667957 single base substitution T C intron_variant RECA-EU 17 79667957 79667957 single base substitution T C upstream_gene_variant RECA-EU 17 79673343 79673343 single base substitution A G downstream_gene_variant SKCA-BR 17 79646704 79646704 single base substitution C T upstream_gene_variant SKCA-BR 17 79650829 79650829 single base substitution C T intron_variant SKCA-BR 17 79650829 79650829 single base substitution C T upstream_gene_variant SKCA-BR 17 79650839 79650839 single base substitution C T intron_variant SKCA-BR 17 79650839 79650839 single base substitution C T upstream_gene_variant SKCA-BR 17 79650840 79650840 single base substitution C T intron_variant SKCA-BR 17 79650840 79650840 single base substitution C T upstream_gene_variant SKCA-BR 17 79650846 79650846 single base substitution C T intron_variant SKCA-BR 17 79650846 79650846 single base substitution C T upstream_gene_variant SKCA-BR 17 79650847 79650847 single base substitution C T intron_variant SKCA-BR 17 79650847 79650847 single base substitution C T upstream_gene_variant SKCA-BR 17 79655551 79655551 single base substitution T G intron_variant SKCA-BR 17 79655551 79655551 single base substitution T G upstream_gene_variant SKCA-BR 17 79656151 79656151 single base substitution T G downstream_gene_variant SKCA-BR 17 79656151 79656151 single base substitution T G intron_variant SKCA-BR 17 79656151 79656151 single base substitution T G upstream_gene_variant SKCA-BR 17 79657821 79657821 single base substitution C T downstream_gene_variant SKCA-BR 17 79657821 79657821 single base substitution C T exon_variant SKCA-BR 17 79657821 79657821 single base substitution C T intron_variant SKCA-BR 17 79657821 79657821 single base substitution C T upstream_gene_variant SKCA-BR 17 79658314 79658314 single base substitution G A downstream_gene_variant SKCA-BR 17 79658314 79658314 single base substitution G A exon_variant SKCA-BR 17 79658314 79658314 single base substitution G A intron_variant SKCA-BR 17 79658314 79658314 single base substitution G A upstream_gene_variant SKCA-BR 17 79660346 79660346 single base substitution T G downstream_gene_variant SKCA-BR 17 79660346 79660346 single base substitution T G intron_variant SKCA-BR 17 79660346 79660346 single base substitution T G upstream_gene_variant SKCA-BR 17 79663218 79663218 insertion of <=200bp - CTGCCCTGCTT downstream_gene_variant SKCA-BR 17 79663218 79663218 insertion of <=200bp - CTGCCCTGCTT exon_variant SKCA-BR 17 79663218 79663218 insertion of <=200bp - CTGCCCTGCTT intron_variant SKCA-BR 17 79663218 79663218 insertion of <=200bp - CTGCCCTGCTT upstream_gene_variant SKCA-BR 17 79664379 79664380 deletion of <=200bp GC - downstream_gene_variant SKCA-BR 17 79664379 79664380 deletion of <=200bp GC - exon_variant SKCA-BR 17 79664379 79664380 deletion of <=200bp GC - intron_variant SKCA-BR 17 79664379 79664380 deletion of <=200bp GC - upstream_gene_variant SKCA-BR 17 79665758 79665758 single base substitution G A downstream_gene_variant SKCA-BR 17 79665758 79665758 single base substitution G A intron_variant SKCA-BR 17 79665758 79665758 single base substitution G A upstream_gene_variant SKCA-BR 17 79670450 79670450 single base substitution A C downstream_gene_variant SKCA-BR 17 79673120 79673120 single base substitution C T downstream_gene_variant SKCM-US 17 79650601 79650601 single base substitution C T 5_prime_UTR_variant SKCM-US 17 79650601 79650601 single base substitution C T upstream_gene_variant SKCM-US 17 79650829 79650829 single base substitution C T intron_variant SKCM-US 17 79650829 79650829 single base substitution C T upstream_gene_variant SKCM-US 17 79650840 79650840 single base substitution C T intron_variant SKCM-US 17 79650840 79650840 single base substitution C T upstream_gene_variant SKCM-US 17 79651110 79651110 single base substitution G T exon_variant SKCM-US 17 79651110 79651110 single base substitution G T intron_variant SKCM-US 17 79651110 79651110 single base substitution G T missense_variant S5I 14G>T SKCM-US 17 79651110 79651110 single base substitution G T upstream_gene_variant SKCM-US 17 79653362 79653362 single base substitution C T 5_prime_UTR_variant SKCM-US 17 79653362 79653362 single base substitution C T exon_variant SKCM-US 17 79653362 79653362 single base substitution C T missense_variant S48F 143C>T SKCM-US 17 79653362 79653362 single base substitution C T upstream_gene_variant SKCM-US 17 79658481 79658481 single base substitution A G downstream_gene_variant SKCM-US 17 79658481 79658481 single base substitution A G exon_variant SKCM-US 17 79658481 79658481 single base substitution A G missense_variant H165R 494A>G SKCM-US 17 79658481 79658481 single base substitution A G missense_variant H181R 542A>G SKCM-US 17 79658481 79658481 single base substitution A G upstream_gene_variant SKCM-US 17 79658531 79658531 single base substitution T C downstream_gene_variant SKCM-US 17 79658531 79658531 single base substitution T C exon_variant SKCM-US 17 79658531 79658531 single base substitution T C missense_variant S182P 544T>C SKCM-US 17 79658531 79658531 single base substitution T C missense_variant S198P 592T>C SKCM-US 17 79658531 79658531 single base substitution T C upstream_gene_variant SKCM-US 17 79662044 79662044 single base substitution G A downstream_gene_variant SKCM-US 17 79662044 79662044 single base substitution G A exon_variant SKCM-US 17 79662044 79662044 single base substitution G A missense_variant E356K 1066G>A SKCM-US 17 79662044 79662044 single base substitution G A missense_variant E76K 226G>A SKCM-US 17 79662044 79662044 single base substitution G A upstream_gene_variant SKCM-US 17 79662080 79662080 single base substitution C T downstream_gene_variant SKCM-US 17 79662080 79662080 single base substitution C T exon_variant SKCM-US 17 79662080 79662080 single base substitution C T missense_variant P368S 1102C>T SKCM-US 17 79662080 79662080 single base substitution C T missense_variant P88S 262C>T SKCM-US 17 79662080 79662080 single base substitution C T upstream_gene_variant SKCM-US 17 79663917 79663917 single base substitution A T downstream_gene_variant SKCM-US 17 79663917 79663917 single base substitution A T exon_variant SKCM-US 17 79663917 79663917 single base substitution A T intron_variant SKCM-US 17 79663917 79663917 single base substitution A T missense_variant S260C 778A>T SKCM-US 17 79663917 79663917 single base substitution A T missense_variant S591C 1771A>T SKCM-US 17 79663917 79663917 single base substitution A T upstream_gene_variant SKCM-US 17 79674064 79674064 single base substitution C T downstream_gene_variant STAD-US 17 79648877 79648877 single base substitution A G upstream_gene_variant STAD-US 17 79649138 79649138 single base substitution G A upstream_gene_variant STAD-US 17 79650094 79650094 deletion of <=200bp C - upstream_gene_variant STAD-US 17 79660574 79660574 single base substitution C T downstream_gene_variant STAD-US 17 79660574 79660574 single base substitution C T missense_variant P219L 656C>T STAD-US 17 79660574 79660574 single base substitution C T missense_variant P235L 704C>T STAD-US 17 79660574 79660574 single base substitution C T upstream_gene_variant STAD-US 17 79661855 79661855 single base substitution C A downstream_gene_variant STAD-US 17 79661855 79661855 single base substitution C A exon_variant STAD-US 17 79661855 79661855 single base substitution C A missense_variant A316E 947C>A STAD-US 17 79661855 79661855 single base substitution C A missense_variant A36E 107C>A STAD-US 17 79661855 79661855 single base substitution C A upstream_gene_variant STAD-US 17 79667525 79667555 deletion of <=200bp CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC - downstream_gene_variant STAD-US 17 79667525 79667555 deletion of <=200bp CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC - exon_variant STAD-US 17 79667525 79667555 deletion of <=200bp CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC - frameshift_variant YPAGATGAQAA637 STAD-US 17 79667525 79667555 deletion of <=200bp CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC - intron_variant STAD-US 17 79667525 79667555 deletion of <=200bp CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC - upstream_gene_variant STAD-US 17 79667727 79667727 single base substitution C T downstream_gene_variant STAD-US 17 79667727 79667727 single base substitution C T intron_variant STAD-US 17 79667727 79667727 single base substitution C T splice_region_variant STAD-US 17 79667727 79667727 single base substitution C T upstream_gene_variant STAD-US 17 79668136 79668136 single base substitution C T downstream_gene_variant STAD-US 17 79668136 79668136 single base substitution C T exon_variant STAD-US 17 79668136 79668136 single base substitution C T intron_variant STAD-US 17 79668136 79668136 single base substitution C T missense_variant A28V 83C>T STAD-US 17 79668136 79668136 single base substitution C T missense_variant A67V 200C>T STAD-US 17 79668136 79668136 single base substitution C T missense_variant A733V 2198C>T STAD-US 17 79668136 79668136 single base substitution C T upstream_gene_variant STAD-US 17 79668137 79668137 single base substitution G A downstream_gene_variant STAD-US 17 79668137 79668137 single base substitution G A exon_variant STAD-US 17 79668137 79668137 single base substitution G A intron_variant STAD-US 17 79668137 79668137 single base substitution G A synonymous_variant A28A 84G>A STAD-US 17 79668137 79668137 single base substitution G A synonymous_variant A67A 201G>A STAD-US 17 79668137 79668137 single base substitution G A synonymous_variant A733A 2199G>A STAD-US 17 79668137 79668137 single base substitution G A upstream_gene_variant STAD-US 17 79671731 79671731 single base substitution T A downstream_gene_variant THCA-SA 17 79648527 79648527 single base substitution A G upstream_gene_variant THCA-SA 17 79650828 79650828 single base substitution T G intron_variant THCA-SA 17 79650828 79650828 single base substitution T G upstream_gene_variant THCA-SA 17 79663931 79663931 single base substitution T C downstream_gene_variant THCA-SA 17 79663931 79663931 single base substitution T C exon_variant THCA-SA 17 79663931 79663931 single base substitution T C intron_variant THCA-SA 17 79663931 79663931 single base substitution T C synonymous_variant P264P 792T>C THCA-SA 17 79663931 79663931 single base substitution T C synonymous_variant P595P 1785T>C THCA-SA 17 79663931 79663931 single base substitution T C upstream_gene_variant THCA-SA 17 79668897 79668897 single base substitution C T 3_prime_UTR_variant THCA-SA 17 79668897 79668897 single base substitution C T downstream_gene_variant THCA-SA 17 79668897 79668897 single base substitution C T intron_variant UCEC-US 17 79648803 79648803 single base substitution G C upstream_gene_variant UCEC-US 17 79650071 79650071 single base substitution C T upstream_gene_variant UCEC-US 17 79653396 79653396 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 17 79653396 79653396 single base substitution C T exon_variant UCEC-US 17 79653396 79653396 single base substitution C T synonymous_variant H59H 177C>T UCEC-US 17 79653396 79653396 single base substitution C T upstream_gene_variant UCEC-US 17 79654056 79654056 single base substitution C T exon_variant UCEC-US 17 79654056 79654056 single base substitution C T synonymous_variant N74N 222C>T UCEC-US 17 79654056 79654056 single base substitution C T synonymous_variant N7N 21C>T UCEC-US 17 79654056 79654056 single base substitution C T upstream_gene_variant UCEC-US 17 79655784 79655784 single base substitution C T exon_variant UCEC-US 17 79655784 79655784 single base substitution C T splice_region_variant UCEC-US 17 79655784 79655784 single base substitution C T synonymous_variant A114A 342C>T UCEC-US 17 79655784 79655784 single base substitution C T synonymous_variant A47A 141C>T UCEC-US 17 79655784 79655784 single base substitution C T upstream_gene_variant UCEC-US 17 79657241 79657241 single base substitution G A downstream_gene_variant UCEC-US 17 79657241 79657241 single base substitution G A exon_variant UCEC-US 17 79657241 79657241 single base substitution G A missense_variant D133N 397G>A UCEC-US 17 79657241 79657241 single base substitution G A missense_variant D149N 445G>A UCEC-US 17 79657241 79657241 single base substitution G A upstream_gene_variant UCEC-US 17 79658493 79658493 single base substitution G A downstream_gene_variant UCEC-US 17 79658493 79658493 single base substitution G A exon_variant UCEC-US 17 79658493 79658493 single base substitution G A missense_variant C169Y 506G>A UCEC-US 17 79658493 79658493 single base substitution G A missense_variant C185Y 554G>A UCEC-US 17 79658493 79658493 single base substitution G A upstream_gene_variant UCEC-US 17 79660922 79660922 single base substitution C T downstream_gene_variant UCEC-US 17 79660922 79660922 single base substitution C T exon_variant UCEC-US 17 79660922 79660922 single base substitution C T missense_variant S288L 863C>T UCEC-US 17 79660922 79660922 single base substitution C T missense_variant S8L 23C>T UCEC-US 17 79660922 79660922 single base substitution C T upstream_gene_variant UCEC-US 17 79662041 79662041 single base substitution A G downstream_gene_variant UCEC-US 17 79662041 79662041 single base substitution A G exon_variant UCEC-US 17 79662041 79662041 single base substitution A G missense_variant T355A 1063A>G UCEC-US 17 79662041 79662041 single base substitution A G missense_variant T75A 223A>G UCEC-US 17 79662041 79662041 single base substitution A G upstream_gene_variant UCEC-US 17 79663463 79663463 single base substitution G T downstream_gene_variant UCEC-US 17 79663463 79663463 single base substitution G T exon_variant UCEC-US 17 79663463 79663463 single base substitution G T missense_variant E159D 477G>T UCEC-US 17 79663463 79663463 single base substitution G T missense_variant E490D 1470G>T UCEC-US 17 79663463 79663463 single base substitution G T upstream_gene_variant UCEC-US 17 79663480 79663480 single base substitution G A downstream_gene_variant UCEC-US 17 79663480 79663480 single base substitution G A exon_variant UCEC-US 17 79663480 79663480 single base substitution G A missense_variant R165H 494G>A UCEC-US 17 79663480 79663480 single base substitution G A missense_variant R496H 1487G>A UCEC-US 17 79663480 79663480 single base substitution G A upstream_gene_variant UCEC-US 17 79663641 79663641 single base substitution A G downstream_gene_variant UCEC-US 17 79663641 79663641 single base substitution A G exon_variant UCEC-US 17 79663641 79663641 single base substitution A G intron_variant UCEC-US 17 79663641 79663641 single base substitution A G missense_variant Y193C 578A>G UCEC-US 17 79663641 79663641 single base substitution A G missense_variant Y524C 1571A>G UCEC-US 17 79663641 79663641 single base substitution A G upstream_gene_variant UCEC-US 17 79663956 79663956 single base substitution A G downstream_gene_variant UCEC-US 17 79663956 79663956 single base substitution A G exon_variant UCEC-US 17 79663956 79663956 single base substitution A G intron_variant UCEC-US 17 79663956 79663956 single base substitution A G missense_variant M273V 817A>G UCEC-US 17 79663956 79663956 single base substitution A G missense_variant M604V 1810A>G UCEC-US 17 79663956 79663956 single base substitution A G upstream_gene_variant UCEC-US 17 79667588 79667588 single base substitution C T downstream_gene_variant UCEC-US 17 79667588 79667588 single base substitution C T exon_variant UCEC-US 17 79667588 79667588 single base substitution C T intron_variant UCEC-US 17 79667588 79667588 single base substitution C T synonymous_variant P658P 1974C>T UCEC-US 17 79667588 79667588 single base substitution C T upstream_gene_variant UCEC-US 17 79668134 79668134 single base substitution C T downstream_gene_variant UCEC-US 17 79668134 79668134 single base substitution C T exon_variant UCEC-US 17 79668134 79668134 single base substitution C T intron_variant UCEC-US 17 79668134 79668134 single base substitution C T synonymous_variant I27I 81C>T UCEC-US 17 79668134 79668134 single base substitution C T synonymous_variant I66I 198C>T UCEC-US 17 79668134 79668134 single base substitution C T synonymous_variant I732I 2196C>T UCEC-US 17 79668134 79668134 single base substitution C T upstream_gene_variant UCEC-US 17 79674064 79674064 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 TCGA-AZ-6601-01 COSM1387339 c.1928G>T p.G643V Substitution - Missense 17:81700512-81700512 + 8050103 COSM3388304 c.919C>T p.L307L Substitution - coding silent 17:81693948-81693948 + I2L-P19Ta-Tumor-Biopsy COSM5363982 c.1670G>A p.R557H Substitution - Missense 17:81696710-81696710 + TCGA-AP-A054-01 COSM985911 c.1571A>G p.Y524C Substitution - Missense 17:81696611-81696611 + T3724 COSM4690216 c.1545G>T p.E515D Substitution - Missense 17:81696508-81696508 + TCGA-BR-8487-01 COSM4070709 c.2199G>A p.A733A Substitution - coding silent 17:81701107-81701107 + ZZUFHECRKL-G068T COSM5445663 c.1734T>C p.G578G Substitution - coding silent 17:81696850-81696850 + TCGA-DK-A1AF-01 COSM1303514 c.841-1G>T p.? Unknown 17:81693869-81693869 + SC_9047 COSM5550268 c.1844C>T p.A615V Substitution - Missense 17:81696960-81696960 + LS180 COSM2805468 c.1637G>A p.R546Q Substitution - Missense 17:81696677-81696677 + EGC28 COSM5055887 c.288G>A p.L96L Substitution - coding silent 17:81687092-81687092 + TCGA-RC-A7SK-01 COSM4918613 c.1479G>T p.E493D Substitution - Missense 17:81696442-81696442 + pfg008T COSM1640899 c.1122C>A p.N374K Substitution - Missense 17:81695166-81695166 + T1154 COSM4690217 c.1689delC p.L565fs*45 Deletion - Frameshift 17:81696729-81696729 + SC_9093 COSM5561975 c.745C>T p.P249S Substitution - Missense 17:81693657-81693657 + M002-Tonsil COSM1740314 c.109C>T p.Q37* Substitution - Nonsense 17:81685676-81685676 + Pat_73_B COSM5853800 c.328T>A p.Y110N Substitution - Missense 17:81688740-81688740 + HN_01000 COSM128158 c.2007G>A p.A669A Substitution - coding silent 17:81700591-81700591 + EGC15 COSM5055888 c.548G>A p.R183Q Substitution - Missense 17:81691457-81691457 + BD135T COSM5516110 c.1442delG p.A483fs*2 Deletion - Frameshift 17:81696405-81696405 + TCGA-EE-A2GR-06 COSM3523672 c.1066G>A p.E356K Substitution - Missense 17:81695014-81695014 + TCGA-F4-6570-01 COSM1387337 c.347C>T p.A116V Substitution - Missense 17:81688759-81688759 + TCGA-CH-5738-01 COSM1130114 c.2238C>T p.G746G Substitution - coding silent 17:81701522-81701522 + STC297 COSM5055886 c.239A>G p.H80R Substitution - Missense 17:81687043-81687043 + PCSI_0093_Pa_X COSM3378397 c.910G>A p.A304T Substitution - Missense 17:81693939-81693939 + TCGA-AD-6548-01 COSM1130114 c.2238C>T p.G746G Substitution - coding silent 17:81701522-81701522 + QC2-25-T2 COSM5653379 c.924C>T p.Y308Y Substitution - coding silent 17:81693953-81693953 + pfg205T COSM4758020 c.1232C>T p.A411V Substitution - Missense 17:81695838-81695838 + T3262 COSM4690213 c.1285C>T p.R429W Substitution - Missense 17:81695891-81695891 + HT55 COSM2805440 c.508A>T p.R170W Substitution - Missense 17:81690713-81690713 + CHEWS009 COSM2805475 c.1826T>C p.M609T Substitution - Missense 17:81696942-81696942 + TCGA-30-1718-01 COSM1324724 c.902C>T p.A301V Substitution - Missense 17:81693931-81693931 + ESCC-237T COSM1209637 c.1552C>T p.R518W Substitution - Missense 17:81696515-81696515 + T3503 COSM2805487 c.2168C>T p.A723V Substitution - Missense 17:81701076-81701076 + 8065697 COSM3388305 c.995G>A p.R332Q Substitution - Missense 17:81694943-81694943 + TCGA-CZ-5457-01 COSM473543 c.44C>T p.A15V Substitution - Missense 17:81685611-81685611 + 587342 COSM1209635 c.1684G>A p.A562T Substitution - Missense 17:81696724-81696724 + TCGA-RC-A7SK-01 COSM4918645 c.1480A>T p.K494* Substitution - Nonsense 17:81696443-81696443 + TCGA-CZ-5985-01 COSM473544 c.418C>A p.H140N Substitution - Missense 17:81690184-81690184 + sysucc-918T COSM5453469 c.1932G>A p.A644A Substitution - coding silent 17:81700516-81700516 + ZZUFHECRKL-G068T COSM5445665 c.1785T>C p.P595P Substitution - coding silent 17:81696901-81696901 + TCGA-D1-A17F-01 COSM985913 c.1974C>T p.P658P Substitution - coding silent 17:81700558-81700558 + B105-0 COSM1750418 c.849G>C p.K283N Substitution - Missense 17:81693878-81693878 + PD11760a COSM5798496 c.1342G>A p.G448S Substitution - Missense 17:81695948-81695948 + CADO-ES1 COSM2805452 c.1095C>T p.H365H Substitution - coding silent 17:81695043-81695043 + Pat_41_B COSM5853802 c.983_984GG>AA p.R328Q Substitution - Missense 17:81694931-81694932 + 587228 COSM1209637 c.1552C>T p.R518W Substitution - Missense 17:81696515-81696515 + TCGA-FP-A4BE-01 COSM2805488 c.2198C>T p.A733V Substitution - Missense 17:81701106-81701106 + TCGA-EJ-8469-01 COSM3783122 c.423C>A p.V141V Substitution - coding silent 17:81690189-81690189 + CSCC-31-T COSM4465744 c.1398C>T p.Y466Y Substitution - coding silent 17:81696361-81696361 + 8068597 COSM4407582 c.866A>C p.Y289S Substitution - Missense 17:81693895-81693895 + TCGA-BP-4972-01 COSM473545 c.1987T>C p.Y663H Substitution - Missense 17:81700571-81700571 + HCC4006ER COSM1685229 c.1767C>T p.F589F Substitution - coding silent 17:81696883-81696883 + TCGA-39-5031-01 COSM708645 c.649G>C p.E217Q Substitution - Missense 17:81691558-81691558 + SNU-175 COSM2805431 c.291G>T p.K97N Substitution - Missense 17:81687095-81687095 + TCGA-EE-A2GO-06 COSM3523670 c.143C>T p.S48F Substitution - Missense 17:81686332-81686332 + C086 COSM5532307 c.897C>T p.S299S Substitution - coding silent 17:81693926-81693926 + TCGA-AP-A051-01 COSM985908 c.1063A>G p.T355A Substitution - Missense 17:81695011-81695011 + GB07 COSM1743490 c.2140C>G p.L714V Substitution - Missense 17:81701048-81701048 + LIM2551 COSM1387337 c.347C>T p.A116V Substitution - Missense 17:81688759-81688759 + B105-0-Tumor COSM1750418 c.849G>C p.K283N Substitution - Missense 17:81693878-81693878 + TCGA-CA-6717-01 COSM1130114 c.2238C>T p.G746G Substitution - coding silent 17:81701522-81701522 + TCGA-JX-A3Q0-01 COSM4824108 c.2046C>T p.L682L Substitution - coding silent 17:81700724-81700724 + HCC097T COSM5816555 c.2223+3G>A p.? Unknown 17:81701134-81701134 + L02 COSM5368575 c.663-1G>A p.? Unknown 17:81693502-81693502 + SNUH_G18_S1 COSM3680615 c.1350C>T p.H450H Substitution - coding silent 17:81695956-81695956 + M002 COSM1740314 c.109C>T p.Q37* Substitution - Nonsense 17:81685676-81685676 + TCGA-CM-4743-01 COSM985902 c.177C>T p.H59H Substitution - coding silent 17:81686366-81686366 + HCC061T COSM5805803 c.1096G>A p.A366T Substitution - Missense 17:81695044-81695044 + 8015299 COSM3773342 c.348G>A p.A116A Substitution - coding silent 17:81688760-81688760 + TCGA-B5-A0K7-01 COSM985904 c.342C>T p.A114A Substitution - coding silent 17:81688754-81688754 + I2L-P20-Tumor-Organoid COSM985913 c.1974C>T p.P658P Substitution - coding silent 17:81700558-81700558 + HDC54 COSM4636352 c.945G>A p.S315S Substitution - coding silent 17:81694823-81694823 + TCGA-D8-A27K-01 COSM1480172 c.1034G>A p.S345N Substitution - Missense 17:81694982-81694982 + TCGA-HW-8320-01 COSM985902 c.177C>T p.H59H Substitution - coding silent 17:81686366-81686366 + SB_07 COSM5753278 c.1670G>C p.R557P Substitution - Missense 17:81696710-81696710 + TCGA-A6-6781-01 COSM1387336 c.255C>T p.N85N Substitution - coding silent 17:81687059-81687059 + TCGA-AZ-6598-01 COSM1387338 c.955G>A p.A319T Substitution - Missense 17:81694833-81694833 + TCGA-EK-A3GK-01 COSM985907 c.863C>T p.S288L Substitution - Missense 17:81693892-81693892 + Au3 COSM5601604 c.356T>C p.F119S Substitution - Missense 17:81688768-81688768 + TCGA-D9-A6EC-06 COSM4402480 c.592T>C p.S198P Substitution - Missense 17:81691501-81691501 + TCGA-BR-4256-01 COSM4070708 c.2019C>T p.N673N Substitution - coding silent 17:81700697-81700697 + T55 COSM4690212 c.363C>T p.N121N Substitution - coding silent 17:81688775-81688775 + MO_1219 COSM5557300 c.1430T>A p.I477N Substitution - Missense 17:81696393-81696393 + TCGA-C8-A137-01 COSM437793 c.181G>T p.A61S Substitution - Missense 17:81686370-81686370 + ACINAR03 COSM1735412 c.1346T>C p.M449T Substitution - Missense 17:81695952-81695952 + CSCC-55-T COSM4464217 c.1322C>T p.S441L Substitution - Missense 17:81695928-81695928 + CHC322T COSM3766216 c.1089A>G p.E363E Substitution - coding silent 17:81695037-81695037 + TCGA-CK-4950-01 COSM3691936 c.891G>T p.S297S Substitution - coding silent 17:81693920-81693920 + MO_1215 COSM5569505 c.691A>G p.T231A Substitution - Missense 17:81693531-81693531 + 3T COSM2805448 c.854C>T p.T285M Substitution - Missense 17:81693883-81693883 + TCGA-BS-A0UA-01 COSM985912 c.1810A>G p.M604V Substitution - Missense 17:81696926-81696926 + 435 COSM4433828 c.1204G>A p.E402K Substitution - Missense 17:81695810-81695810 + TCGA-EB-A430-01 COSM3523673 c.1102C>T p.P368S Substitution - Missense 17:81695050-81695050 + TCGA-FD-A3SO-01 COSM3796216 c.2102C>T p.S701L Substitution - Missense 17:81700780-81700780 + 587342 COSM1209636 c.1819G>A p.V607M Substitution - Missense 17:81696935-81696935 + TCGA-AP-A0LM-01 COSM985905 c.445G>A p.D149N Substitution - Missense 17:81690211-81690211 + 587224 COSM1209634 c.983G>A p.R328Q Substitution - Missense 17:81694931-81694931 + LUAD-F00121 COSM365710 c.1850G>T p.G617V Substitution - Missense 17:81696966-81696966 + TCGA-30-1718-01 COSM1324725 c.901G>T p.A301S Substitution - Missense 17:81693930-81693930 + TCGA-EB-A44O-01 COSM3523669 c.14G>T p.S5I Substitution - Missense 17:81684080-81684080 + 0064_CRUK_PC_0064_T1_DNA COSM4421101 c.13A>G p.S5G Substitution - Missense 17:81684079-81684079 + LOVO COSM2805458 c.1233G>A p.A411A Substitution - coding silent 17:81695839-81695839 + 96 COSM5013260 c.125C>T p.A42V Substitution - Missense 17:81686314-81686314 + CSCC-45-T COSM4521954 c.1138G>A p.D380N Substitution - Missense 17:81695182-81695182 + Pat_41_B COSM5853801 c.917G>A p.S306N Substitution - Missense 17:81693946-81693946 + TCGA-AP-A059-01 COSM985906 c.554G>A p.C185Y Substitution - Missense 17:81691463-81691463 + TCGA-F5-6814-01 COSM3422013 c.1387C>T p.R463C Substitution - Missense 17:81695993-81695993 + TCGA-B5-A11E-01 COSM985909 c.1470G>T p.E490D Substitution - Missense 17:81696433-81696433 + T55 COSM4690215 c.1465G>A p.E489K Substitution - Missense 17:81696428-81696428 + TTC466 COSM4580253 c.822G>A p.A274A Substitution - coding silent 17:81693734-81693734 + EGC3 COSM5055889 c.628C>T p.R210C Substitution - Missense 17:81691537-81691537 + 2492730 COSM5728858 c.630C>T p.R210R Substitution - coding silent 17:81691539-81691539 + PD8979a COSM5792400 c.150G>C p.K50N Substitution - Missense 17:81686339-81686339 + TCGA-66-2787-01 COSM708644 c.1942C>T p.P648S Substitution - Missense 17:81700526-81700526 + S0029 COSM5882956 c.2026T>G p.S676A Substitution - Missense 17:81700704-81700704 + C086 COSM5532306 c.1052C>T p.P351L Substitution - Missense 17:81695000-81695000 + TCGA-C8-A1HM-01 COSM437794 c.958G>A p.E320K Substitution - Missense 17:81694836-81694836 + BZ14 COSM5758294 c.1393+1G>A p.? Unknown 17:81696000-81696000 + TCGA-HU-A4H0-01 COSM4070706 c.704C>T p.P235L Substitution - Missense 17:81693544-81693544 + KM12 COSM2805455 c.1179G>A p.E393E Substitution - coding silent 17:81695223-81695223 + TCGA-24-1417-01 COSM81264 c.153G>A p.K51K Substitution - coding silent 17:81686342-81686342 + TCGA-34-5236-01 COSM708643 c.2140C>T p.L714F Substitution - Missense 17:81701048-81701048 + KYSE-140 COSM2805463 c.1348C>T p.H450Y Substitution - Missense 17:81695954-81695954 + TCGA-B5-A11J-01 COSM985903 c.222C>T p.N74N Substitution - coding silent 17:81687026-81687026 + TCGA-HU-A4GQ-01 COSM4070707 c.947C>A p.A316E Substitution - Missense 17:81694825-81694825 + pfg008T COSM1640899 c.1122C>A p.N374K Substitution - Missense 17:81695166-81695166 + BZ35 COSM5759158 c.1957G>A p.G653R Substitution - Missense 17:81700541-81700541 + TCGA-CM-6162-01 COSM3691937 c.1384G>A p.E462K Substitution - Missense 17:81695990-81695990 + TCGA-AA-3712-01 COSM1130114 c.2238C>T p.G746G Substitution - coding silent 17:81701522-81701522 + PCSI_0310_Pa_P_526 COSM4965165 c.60G>T p.L20L Substitution - coding silent 17:81685627-81685627 + TCGA-EE-A3AB-06 COSM3523671 c.542A>G p.H181R Substitution - Missense 17:81691451-81691451 + LS180 COSM2805482 c.1966G>A p.A656T Substitution - Missense 17:81700550-81700550 + TCGA-AC-A23H-01 COSM3821004 c.890C>T p.S297L Substitution - Missense 17:81693919-81693919 + TCGA-AP-A059-01 COSM985902 c.177C>T p.H59H Substitution - coding silent 17:81686366-81686366 + YUROG COSM5387653 c.1153C>T p.P385S Substitution - Missense 17:81695197-81695197 + 3P3 COSM2805448 c.854C>T p.T285M Substitution - Missense 17:81693883-81693883 + TCGA-D1-A17Q-01 COSM985914 c.2196C>T p.I732I Substitution - coding silent 17:81701104-81701104 + LS174T COSM2805468 c.1637G>A p.R546Q Substitution - Missense 17:81696677-81696677 + TCGA-G4-6588-01 COSM3691935 c.34C>A p.L12I Substitution - Missense 17:81684100-81684100 + TCGA-D8-A1XK-01 COSM3821005 c.1765T>G p.F589V Substitution - Missense 17:81696881-81696881 + TCGA-D9-A3Z4-01 COSM3523674 c.1771A>T p.S591C Substitution - Missense 17:81696887-81696887 + TCGA-G2-A2ES-01 COSM1303515 c.2142C>T p.L714L Substitution - coding silent 17:81701050-81701050 + I2L-P19Ta-Tumor-Organoid COSM5363982 c.1670G>A p.R557H Substitution - Missense 17:81696710-81696710 + 413 COSM4431169 c.1310C>T p.S437L Substitution - Missense 17:81695916-81695916 + T2931 COSM4690214 c.1323A>T p.S441S Substitution - coding silent 17:81695929-81695929 + TCGA-EK-A3GK-01 COSM3821004 c.890C>T p.S297L Substitution - Missense 17:81693919-81693919 + TCGA-D1-A103-01 COSM985910 c.1487G>A p.R496H Substitution - Missense 17:81696450-81696450 + LS174T COSM2805482 c.1966G>A p.A656T Substitution - Missense 17:81700550-81700550 + TCGA-B5-A11R-01 COSM985907 c.863C>T p.S288L Substitution - Missense 17:81693892-81693892 + TCGA-CS-6188-01 COSM985905 c.445G>A p.D149N Substitution - Missense 17:81690211-81690211 + TCGA-AA-3662-01 COSM1130114 c.2238C>T p.G746G Substitution - coding silent 17:81701522-81701522 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.514590 17q25 604375 2450473|CGAP|BC003565|C/T|non-coding||2761|Validated; 2450475|CGAP|BC003565|C/T|non-coding||2659|Validated; 2450490|CGAP|BC003565|C/T|coding|Ala576Ala|1804|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.H181R c.542A>G 17 79658481 CM A G Missense p.M604V c.1810A>G 17 79663956 UCEC A G Missense p.N435D c.1303A>G 17 79662939 HNSC A G Missense p.Y524C c.1571A>G 17 79663641 UCEC C A Missense p.N374K c.1122C>A 17 79662196 STAD C T Missense p.A15V c.44C>T 17 79652641 RCCC C T Missense p.L714F c.2140C>T 17 79668078 LUSC C T Missense p.P648S c.1942C>T 17 79667556 LUSC C T Missense p.S288L c.863C>T 17 79660922 UCEC C T Missense p.S48F c.143C>T 17 79653362 CM C T Synonymous p.A114A c.342C>T 17 79655784 UCEC C T Synonymous p.F419F c.1257C>T 17 79662893 LUAD C T Synonymous p.L457L c.1371C>T 17 79663007 HNSC C T Synonymous p.L714L c.2142C>T 17 79668080 ALL C T Synonymous p.L714L c.2142C>T 17 79668080 BLCA C T Synonymous p.N673N c.2019C>T 17 79667727 STAD C T Synonymous p.N74N c.222C>T 17 79654056 UCEC C T Synonymous p.P658P c.1974C>T 17 79667588 HNSC C T Synonymous p.P658P c.1974C>T 17 79667588 UCEC C T Synonymous p.R343R c.1029C>T 17 79662007 BRCA G A Missense p.D149N c.445G>A 17 79657241 LGG G A Missense p.E356K c.1066G>A 17 79662044 CM G A Missense p.E770K c.2308G>A 17 79668622 BRCA G A Missense p.R535H c.1604G>A 17 79663674 BRCA G A Missense p.S345N c.1034G>A 17 79662012 BRCA G A Synonymous p.A669A c.2007G>A 17 79667621 HNSC G A Synonymous p.E213E c.639G>A 17 79658578 HNSC G A Synonymous p.K51K c.153G>A 17 79653372 OV G C Missense p.E217Q c.649G>C 17 79658588 LUSC G T Missense p.A61S c.181G>T 17 79653400 BRCA G T Nonsense p.G191* c.571G>T 17 79658510 STAD G T SpliceAcceptorSNV . c.841-1G>T 17 79660899 BLCA T C Missense p.Y663H c.1987T>C 17 79667601 RCCC