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 18647716 18647716 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr17:18647716G>C c.159G>C c.(157-159)caG>caC p.Q53H BLCA 17 18653133 18653133 + Missense_Mutation SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr17:18653133C>G c.769C>G c.(769-771)Cta>Gta p.L257V BLCA 17 18653219 18653219 + Silent SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr17:18653219C>G c.855C>G c.(853-855)ctC>ctG p.L285L BLCA 17 18659367 18659367 + Missense_Mutation SNP A A G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr17:18659367A>G c.1132A>G c.(1132-1134)Aac>Gac p.N378D BLCA 17 18668067 18668067 + Silent SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr17:18668067G>T c.1446G>T c.(1444-1446)ctG>ctT p.L482L BLCA 17 18671866 18671866 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 g.chr17:18671866G>A c.1724G>A c.(1723-1725)gGa>gAa p.G575E BLCA 17 18682425 18682425 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:18682425G>C c.2973G>C c.(2971-2973)aaG>aaC p.K991N BRCA 17 18661706 18661706 + Nonsense_Mutation SNP C C T TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr17:18661706C>T c.1321C>T c.(1321-1323)Caa>Taa p.Q441* BRCA 17 18668054 18668054 + Splice_Site SNP G G C TCGA-E9-A3QA-01A-61D-A228-09 TCGA-E9-A3QA-10A-01D-A22A-09 g.chr17:18668054G>C c.e8-1 BRCA 17 18670066 18670066 + Missense_Mutation SNP G G C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 g.chr17:18670066G>C c.1595G>C c.(1594-1596)aGa>aCa p.R532T BRCA 17 18675985 18675985 + Missense_Mutation SNP A A G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 g.chr17:18675985A>G c.2267A>G c.(2266-2268)aAg>aGg p.K756R BRCA 17 18681814 18681814 + Missense_Mutation SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 g.chr17:18681814C>G c.2362C>G c.(2362-2364)Caa>Gaa p.Q788E CESC 17 18647791 18647791 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr17:18647791G>C c.234G>C c.(232-234)caG>caC p.Q78H CESC 17 18659415 18659415 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr17:18659415G>C c.1180G>C c.(1180-1182)Gag>Cag p.E394Q CESC 17 18682026 18682026 + Missense_Mutation SNP C C A TCGA-C5-A7CM-01A-11D-A33O-09 TCGA-C5-A7CM-10A-01D-A33O-09 g.chr17:18682026C>A c.2574C>A c.(2572-2574)ttC>ttA p.F858L COAD 17 18647743 18647743 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:18647743G>T c.186G>T c.(184-186)aaG>aaT p.K62N COAD 17 18653079 18653079 + Silent SNP A A C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr17:18653079A>C c.715A>C c.(715-717)Agg>Cgg p.R239R COAD 17 18653232 18653232 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:18653232C>A c.868C>A c.(868-870)Cta>Ata p.L290I COAD 17 18654331 18654331 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:18654331C>T c.1087C>T c.(1087-1089)Cgt>Tgt p.R363C COAD 17 18659418 18659418 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:18659418G>A c.1183G>A c.(1183-1185)Gag>Aag p.E395K COAD 17 18668094 18668094 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:18668094C>T c.1473C>T c.(1471-1473)ttC>ttT p.F491F COAD 17 18675940 18675940 + Missense_Mutation SNP T T C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:18675940T>C c.2222T>C c.(2221-2223)cTa>cCa p.L741P COAD 17 18678497 18678497 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:18678497G>A c.2327G>A c.(2326-2328)cGa>cAa p.R776Q COAD 17 18681848 18681848 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:18681848G>T c.2396G>T c.(2395-2397)aGt>aTt p.S799I COAD 17 18681919 18681919 + Nonsense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:18681919C>T c.2467C>T c.(2467-2469)Cag>Tag p.Q823* COAD 17 18681926 18681926 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:18681926C>T c.2474C>T c.(2473-2475)gCc>gTc p.A825V COAD 17 18682093 18682093 + Nonsense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:18682093C>T c.2641C>T c.(2641-2643)Cga>Tga p.R881* COAD 17 18682306 18682306 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr17:18682306C>T c.2854C>T c.(2854-2856)Cgc>Tgc p.R952C COADREAD 17 18647743 18647743 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:18647743G>T c.186G>T c.(184-186)aaG>aaT p.K62N COADREAD 17 18653069 18653069 + Silent SNP C C T TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr17:18653069C>T c.705C>T c.(703-705)tcC>tcT p.S235S COADREAD 17 18653079 18653079 + Silent SNP A A C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr17:18653079A>C c.715A>C c.(715-717)Agg>Cgg p.R239R COADREAD 17 18653232 18653232 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:18653232C>A c.868C>A c.(868-870)Cta>Ata p.L290I COADREAD 17 18654331 18654331 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:18654331C>T c.1087C>T c.(1087-1089)Cgt>Tgt p.R363C COADREAD 17 18659418 18659418 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:18659418G>A c.1183G>A c.(1183-1185)Gag>Aag p.E395K COADREAD 17 18668094 18668094 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:18668094C>T c.1473C>T c.(1471-1473)ttC>ttT p.F491F COADREAD 17 18673283 18673283 + Missense_Mutation SNP G G C TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chr17:18673283G>C c.1891G>C c.(1891-1893)Gcc>Ccc p.A631P COADREAD 17 18675940 18675940 + Missense_Mutation SNP T T C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:18675940T>C c.2222T>C c.(2221-2223)cTa>cCa p.L741P COADREAD 17 18678497 18678497 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:18678497G>A c.2327G>A c.(2326-2328)cGa>cAa p.R776Q COADREAD 17 18681848 18681848 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:18681848G>T c.2396G>T c.(2395-2397)aGt>aTt p.S799I COADREAD 17 18681919 18681919 + Nonsense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:18681919C>T c.2467C>T c.(2467-2469)Cag>Tag p.Q823* COADREAD 17 18681926 18681926 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:18681926C>T c.2474C>T c.(2473-2475)gCc>gTc p.A825V COADREAD 17 18682093 18682093 + Nonsense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:18682093C>T c.2641C>T c.(2641-2643)Cga>Tga p.R881* COADREAD 17 18682306 18682306 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr17:18682306C>T c.2854C>T c.(2854-2856)Cgc>Tgc p.R952C DLBC 17 18682351 18682352 + Frame_Shift_Del DEL AA AA - TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr17:18682351_18682352delAA c.2899_2900delAA c.(2899-2901)aaafs p.K967fs ESCA 17 18647920 18647920 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr17:18647920C>T c.363C>T c.(361-363)atC>atT p.I121I ESCA 17 18681823 18681823 + Missense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr17:18681823T>A c.2371T>A c.(2371-2373)Ttg>Atg p.L791M GBM 17 18651317 18651317 + Missense_Mutation SNP C C T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr17:18651317C>T c.569C>T c.(568-570)gCg>gTg p.A190V GBMLGG 17 18651317 18651317 + Missense_Mutation SNP C C T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr17:18651317C>T c.569C>T c.(568-570)gCg>gTg p.A190V GBMLGG 17 18675863 18675866 + Frame_Shift_Del DEL TCTC TCTC - TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 g.chr17:18675863_18675866delTCTC c.2145_2148delTCTC c.(2143-2148)attctcfs p.IL715fs GBMLGG 17 18681866 18681866 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:18681866C>A c.2414C>A c.(2413-2415)tCt>tAt p.S805Y GBMLGG 17 18682533 18682533 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:18682533C>A c.3081C>A c.(3079-3081)atC>atA p.I1027I HNSC 17 18653137 18653137 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr17:18653137T>C c.773T>C c.(772-774)tTg>tCg p.L258S HNSC 17 18653345 18653345 + Silent SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 g.chr17:18653345G>C c.894G>C c.(892-894)ctG>ctC p.L298L HNSC 17 18659367 18659367 + Missense_Mutation SNP A A G TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 g.chr17:18659367A>G c.1132A>G c.(1132-1134)Aac>Gac p.N378D HNSC 17 18659468 18659468 + Splice_Site SNP G G A TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 g.chr17:18659468G>A c.e6+1 HNSC 17 18678497 18678497 + Missense_Mutation SNP G G A TCGA-UF-A7JT-01A-11D-A34J-08 TCGA-UF-A7JT-10A-01D-A34M-08 g.chr17:18678497G>A c.2327G>A c.(2326-2328)cGa>cAa p.R776Q KICH 17 18682163 18682163 + Missense_Mutation SNP T T C TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chr17:18682163T>C c.2711T>C c.(2710-2712)gTc>gCc p.V904A KIPAN 17 18653137 18653137 + Nonsense_Mutation SNP T T A TCGA-B1-5398-01A-02D-1589-08 TCGA-B1-5398-10A-01D-1589-08 g.chr17:18653137T>A c.773T>A c.(772-774)tTg>tAg p.L258* KIPAN 17 18675803 18675803 + Silent SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 g.chr17:18675803G>A c.2085G>A c.(2083-2085)acG>acA p.T695T KIPAN 17 18682163 18682163 + Missense_Mutation SNP T T C TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chr17:18682163T>C c.2711T>C c.(2710-2712)gTc>gCc p.V904A KIPAN 17 18682177 18682177 + Missense_Mutation SNP C C A TCGA-BP-5200-01A-01D-1429-08 TCGA-BP-5200-11A-01D-1429-08 g.chr17:18682177C>A c.2725C>A c.(2725-2727)Ccc>Acc p.P909T KIRC 17 18675803 18675803 + Silent SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 g.chr17:18675803G>A c.2085G>A c.(2083-2085)acG>acA p.T695T KIRC 17 18682177 18682177 + Missense_Mutation SNP C C A TCGA-BP-5200-01A-01D-1429-08 TCGA-BP-5200-11A-01D-1429-08 g.chr17:18682177C>A c.2725C>A c.(2725-2727)Ccc>Acc p.P909T KIRP 17 18653137 18653137 + Nonsense_Mutation SNP T T A TCGA-B1-5398-01A-02D-1589-08 TCGA-B1-5398-10A-01D-1589-08 g.chr17:18653137T>A c.773T>A c.(772-774)tTg>tAg p.L258* LGG 17 18675863 18675866 + Frame_Shift_Del DEL TCTC TCTC - TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 g.chr17:18675863_18675866delTCTC c.2145_2148delTCTC c.(2143-2148)attctcfs p.IL715fs LGG 17 18681866 18681866 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:18681866C>A c.2414C>A c.(2413-2415)tCt>tAt p.S805Y LGG 17 18682533 18682533 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:18682533C>A c.3081C>A c.(3079-3081)atC>atA p.I1027I LIHC 17 18653121 18653121 + Missense_Mutation SNP G G A TCGA-CC-A7IK-01A-12D-A33Q-10 TCGA-CC-A7IK-10A-01D-A33Q-10 g.chr17:18653121G>A c.757G>A c.(757-759)Gat>Aat p.D253N LIHC 17 18654340 18654340 + Missense_Mutation SNP C C A TCGA-DD-AACM-01A-11D-A40R-10 TCGA-DD-AACM-10A-01D-A40U-10 g.chr17:18654340C>A c.1096C>A c.(1096-1098)Cat>Aat p.H366N LUAD 17 18651357 18651357 + Silent SNP A A G TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr17:18651357A>G c.609A>G c.(607-609)acA>acG p.T203T LUAD 17 18659367 18659367 + Missense_Mutation SNP A A G TCGA-NJ-A4YG-01A-22D-A25L-08 TCGA-NJ-A4YG-10A-01D-A25L-08 g.chr17:18659367A>G c.1132A>G c.(1132-1134)Aac>Gac p.N378D LUAD 17 18675739 18675739 + Missense_Mutation SNP C C T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr17:18675739C>T c.2021C>T c.(2020-2022)aCa>aTa p.T674I LUAD 17 18675854 18675854 + Silent SNP C C T TCGA-86-8278-01A-11D-2284-08 TCGA-86-8278-10A-01D-2284-08 g.chr17:18675854C>T c.2136C>T c.(2134-2136)ctC>ctT p.L712L LUAD 17 18681912 18681912 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr17:18681912C>T c.2460C>T c.(2458-2460)agC>agT p.S820S LUAD 17 18681917 18681917 + Missense_Mutation SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr17:18681917T>G c.2465T>G c.(2464-2466)cTg>cGg p.L822R LUAD 17 18682089 18682090 + Frame_Shift_Del DEL GA GA - TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr17:18682089_18682090delGA c.2637_2638delGA c.(2635-2640)gtgaaafs p.K880fs LUAD 17 18682537 18682537 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr17:18682537G>A c.3085G>A c.(3085-3087)Ggc>Agc p.G1029S LUSC 17 18647829 18647829 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr17:18647829G>A c.272G>A c.(271-273)cGg>cAg p.R91Q LUSC 17 18647967 18647967 + Missense_Mutation SNP C C T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr17:18647967C>T c.410C>T c.(409-411)aCt>aTt p.T137I LUSC 17 18647983 18647983 + Missense_Mutation SNP G G C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr17:18647983G>C c.426G>C c.(424-426)caG>caC p.Q142H LUSC 17 18668086 18668086 + Nonsense_Mutation SNP C C T TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr17:18668086C>T c.1465C>T c.(1465-1467)Cga>Tga p.R489* LUSC 17 18682174 18682174 + Missense_Mutation SNP A A G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr17:18682174A>G c.2722A>G c.(2722-2724)Ata>Gta p.I908V LUSC 17 18682490 18682490 + Missense_Mutation SNP T T C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr17:18682490T>C c.3038T>C c.(3037-3039)gTt>gCt p.V1013A OV 17 18654366 18654366 + Splice_Site SNP G G C TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 g.chr17:18654366G>C c.1122G>C c.(1120-1122)aaG>aaC p.K374N PAAD 17 18647799 18647799 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:18647799A>C c.242A>C c.(241-243)cAg>cCg p.Q81P PAAD 17 18653098 18653098 + Missense_Mutation SNP G G C TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr17:18653098G>C c.734G>C c.(733-735)gGa>gCa p.G245A PAAD 17 18653098 18653098 + Missense_Mutation SNP G G C TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chr17:18653098G>C c.734G>C c.(733-735)gGa>gCa p.G245A PAAD 17 18671872 18671872 + Missense_Mutation SNP T T C TCGA-IB-A6UG-01A-32D-A33T-08 TCGA-IB-A6UG-10A-01D-A33W-08 g.chr17:18671872T>C c.1730T>C c.(1729-1731)gTg>gCg p.V577A PRAD 17 18651256 18651256 + Missense_Mutation SNP C C T TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 g.chr17:18651256C>T c.508C>T c.(508-510)Ctc>Ttc p.L170F PRAD 17 18651268 18651268 + Missense_Mutation SNP A A T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 g.chr17:18651268A>T c.520A>T c.(520-522)Atc>Ttc p.I174F READ 17 18653069 18653069 + Silent SNP C C T TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr17:18653069C>T c.705C>T c.(703-705)tcC>tcT p.S235S READ 17 18673283 18673283 + Missense_Mutation SNP G G C TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chr17:18673283G>C c.1891G>C c.(1891-1893)Gcc>Ccc p.A631P SARC 17 18653126 18653126 + Silent SNP C C T TCGA-DX-A1L2-01A-22D-A24N-09 TCGA-DX-A1L2-10A-01D-A24N-09 g.chr17:18653126C>T c.762C>T c.(760-762)ccC>ccT p.P254P SARC 17 18668118 18668118 + Silent SNP T T G TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 g.chr17:18668118T>G c.1497T>G c.(1495-1497)acT>acG p.T499T SKCM 17 18647600 18647600 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr17:18647600C>T c.43C>T c.(43-45)Cgt>Tgt p.R15C SKCM 17 18648044 18648044 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:18648044G>A c.487G>A c.(487-489)Gag>Aag p.E163K SKCM 17 18651287 18651287 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr17:18651287C>T c.539C>T c.(538-540)tCc>tTc p.S180F SKCM 17 18653121 18653121 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr17:18653121G>A c.757G>A c.(757-759)Gat>Aat p.D253N SKCM 17 18653121 18653121 + Missense_Mutation SNP G G A TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr17:18653121G>A c.757G>A c.(757-759)Gat>Aat p.D253N SKCM 17 18653121 18653121 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chr17:18653121G>A c.757G>A c.(757-759)Gat>Aat p.D253N SKCM 17 18654336 18654336 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr17:18654336G>A c.1092G>A c.(1090-1092)gtG>gtA p.V364V SKCM 17 18659368 18659368 + Missense_Mutation SNP A A G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr17:18659368A>G c.1133A>G c.(1132-1134)aAc>aGc p.N378S SKCM 17 18659394 18659394 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr17:18659394G>A c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K SKCM 17 18661787 18661787 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr17:18661787C>T c.1402C>T c.(1402-1404)Ctc>Ttc p.L468F SKCM 17 18668094 18668094 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:18668094C>T c.1473C>T c.(1471-1473)ttC>ttT p.F491F SKCM 17 18668146 18668146 + Missense_Mutation SNP G G T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr17:18668146G>T c.1525G>T c.(1525-1527)Gta>Tta p.V509L SKCM 17 18671950 18671950 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr17:18671950G>A c.1808G>A c.(1807-1809)gGg>gAg p.G603E SKCM 17 18671986 18671986 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:18671986C>T c.1844C>T c.(1843-1845)cCc>cTc p.P615L SKCM 17 18671987 18671987 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:18671987C>T c.1845C>T c.(1843-1845)ccC>ccT p.P615P SKCM 17 18673257 18673257 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr17:18673257C>T c.1865C>T c.(1864-1866)tCc>tTc p.S622F SKCM 17 18673314 18673314 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr17:18673314A>T c.1922A>T c.(1921-1923)aAt>aTt p.N641I SKCM 17 18673392 18673392 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr17:18673392G>A c.2000G>A c.(1999-2001)gGc>gAc p.G667D SKCM 17 18675803 18675803 + Silent SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr17:18675803G>A c.2085G>A c.(2083-2085)acG>acA p.T695T SKCM 17 18675803 18675803 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:18675803G>A c.2085G>A c.(2083-2085)acG>acA p.T695T SKCM 17 18675954 18675954 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr17:18675954C>T c.2236C>T c.(2236-2238)Ccc>Tcc p.P746S SKCM 17 18682422 18682422 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr17:18682422G>A c.2970G>A c.(2968-2970)gtG>gtA p.V990V SKCM 17 18682444 18682444 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr17:18682444G>A c.2992G>A c.(2992-2994)Gaa>Aaa p.E998K SKCM 17 18682579 18682579 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr17:18682579G>A c.3127G>A c.(3127-3129)Gcc>Acc p.A1043T

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 18682145 18682145 single base substitution C T intron_variant BLCA-CN 17 18682145 18682145 single base substitution C T missense_variant S845F 2534C>T BLCA-CN 17 18682145 18682145 single base substitution C T missense_variant S897F 2690C>T BLCA-CN 17 18682145 18682145 single base substitution C T missense_variant S898F 2693C>T BLCA-CN 17 18682145 18682145 single base substitution C T missense_variant S907F 2720C>T BLCA-CN 17 18682530 18682530 single base substitution G C 3_prime_UTR_variant BLCA-CN 17 18682530 18682530 single base substitution G C missense_variant K1025N 3075G>C BLCA-CN 17 18682530 18682530 single base substitution G C missense_variant K1026N 3078G>C BLCA-CN 17 18682530 18682530 single base substitution G C missense_variant K1035N 3105G>C BLCA-CN 17 18682530 18682530 single base substitution G C missense_variant K973N 2919G>C BLCA-CN 17 18682569 18682569 single base substitution G C 3_prime_UTR_variant BLCA-CN 17 18682569 18682569 single base substitution G C synonymous_variant G1038G 3114G>C BLCA-CN 17 18682569 18682569 single base substitution G C synonymous_variant G1039G 3117G>C BLCA-CN 17 18682569 18682569 single base substitution G C synonymous_variant G1048G 3144G>C BLCA-CN 17 18682569 18682569 single base substitution G C synonymous_variant G986G 2958G>C BLCA-US 17 18668067 18668067 single base substitution G T 3_prime_UTR_variant BLCA-US 17 18668067 18668067 single base substitution G T synonymous_variant L482L 1446G>T BLCA-US 17 18668067 18668067 single base substitution G T synonymous_variant L511L 1533G>T BLCA-US 17 18668067 18668067 single base substitution G T upstream_gene_variant BLCA-US 17 18671866 18671866 single base substitution G A 3_prime_UTR_variant BLCA-US 17 18671866 18671866 single base substitution G A missense_variant G575E 1724G>A BLCA-US 17 18671866 18671866 single base substitution G A missense_variant G604E 1811G>A BLCA-US 17 18671866 18671866 single base substitution G A upstream_gene_variant BRCA-EU 17 18642781 18642781 single base substitution G C upstream_gene_variant BRCA-EU 17 18644999 18644999 single base substitution C A upstream_gene_variant BRCA-EU 17 18645045 18645045 single base substitution G C upstream_gene_variant BRCA-EU 17 18645099 18645099 single base substitution C A upstream_gene_variant BRCA-EU 17 18645644 18645644 single base substitution C G upstream_gene_variant BRCA-EU 17 18646658 18646658 single base substitution G C upstream_gene_variant BRCA-EU 17 18648745 18648745 single base substitution T C intron_variant BRCA-EU 17 18650387 18650387 single base substitution G A intron_variant BRCA-EU 17 18651196 18651196 single base substitution C G intron_variant BRCA-EU 17 18651461 18651461 single base substitution G A intron_variant BRCA-EU 17 18651993 18651993 single base substitution G C intron_variant BRCA-EU 17 18652470 18652470 single base substitution C A intron_variant BRCA-EU 17 18653199 18653199 single base substitution C A 3_prime_UTR_variant BRCA-EU 17 18653199 18653199 single base substitution C A missense_variant R279S 835C>A BRCA-EU 17 18653310 18653310 insertion of <=200bp - T frameshift_variant F316F? BRCA-EU 17 18653310 18653310 insertion of <=200bp - T intron_variant BRCA-EU 17 18653409 18653409 single base substitution T A 3_prime_UTR_variant BRCA-EU 17 18653409 18653409 single base substitution T A missense_variant S320T 958T>A BRCA-EU 17 18653409 18653409 single base substitution T A missense_variant S349T 1045T>A BRCA-EU 17 18653435 18653435 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 18653435 18653435 single base substitution G A synonymous_variant Q328Q 984G>A BRCA-EU 17 18653435 18653435 single base substitution G A synonymous_variant Q357Q 1071G>A BRCA-EU 17 18654644 18654644 single base substitution T G intron_variant BRCA-EU 17 18654695 18654695 single base substitution C A intron_variant BRCA-EU 17 18655192 18655192 single base substitution C A intron_variant BRCA-EU 17 18655590 18655590 single base substitution G C intron_variant BRCA-EU 17 18655803 18655803 single base substitution G A intron_variant BRCA-EU 17 18657623 18657623 single base substitution C T intron_variant BRCA-EU 17 18658402 18658402 single base substitution T C intron_variant BRCA-EU 17 18659343 18659343 single base substitution A C intron_variant BRCA-EU 17 18659468 18659468 single base substitution G A splice_donor_variant BRCA-EU 17 18660203 18660203 single base substitution C T intron_variant BRCA-EU 17 18660489 18660489 single base substitution C G intron_variant BRCA-EU 17 18661621 18661621 single base substitution G T 3_prime_UTR_variant BRCA-EU 17 18661621 18661621 single base substitution G T missense_variant W412C 1236G>T BRCA-EU 17 18661621 18661621 single base substitution G T missense_variant W441C 1323G>T BRCA-EU 17 18664238 18664238 deletion of <=200bp T - intron_variant BRCA-EU 17 18665331 18665331 single base substitution A G intron_variant BRCA-EU 17 18665527 18665527 single base substitution G A intron_variant BRCA-EU 17 18665893 18665893 single base substitution C A intron_variant BRCA-EU 17 18665926 18665926 single base substitution C T intron_variant BRCA-EU 17 18666790 18666790 single base substitution C T intron_variant BRCA-EU 17 18667542 18667542 single base substitution G A intron_variant BRCA-EU 17 18673292 18673292 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 18673292 18673292 single base substitution G A exon_variant BRCA-EU 17 18673292 18673292 single base substitution G A intron_variant BRCA-EU 17 18673292 18673292 single base substitution G A missense_variant D634N 1900G>A BRCA-EU 17 18673292 18673292 single base substitution G A missense_variant D663N 1987G>A BRCA-EU 17 18673300 18673300 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 18673300 18673300 single base substitution G A exon_variant BRCA-EU 17 18673300 18673300 single base substitution G A intron_variant BRCA-EU 17 18673300 18673300 single base substitution G A synonymous_variant K636K 1908G>A BRCA-EU 17 18673300 18673300 single base substitution G A synonymous_variant K665K 1995G>A BRCA-EU 17 18673422 18673422 single base substitution G A intron_variant BRCA-EU 17 18673433 18673433 single base substitution G A intron_variant BRCA-EU 17 18673451 18673451 single base substitution G A intron_variant BRCA-EU 17 18673470 18673470 single base substitution G A intron_variant BRCA-EU 17 18673499 18673499 single base substitution G A intron_variant BRCA-EU 17 18673580 18673580 single base substitution A G intron_variant BRCA-EU 17 18673675 18673675 single base substitution G A intron_variant BRCA-EU 17 18674419 18674419 single base substitution A G intron_variant BRCA-EU 17 18675150 18675150 single base substitution A T intron_variant BRCA-EU 17 18676061 18676061 single base substitution G C downstream_gene_variant BRCA-EU 17 18676061 18676061 single base substitution G C intron_variant BRCA-EU 17 18676280 18676280 single base substitution T C downstream_gene_variant BRCA-EU 17 18676280 18676280 single base substitution T C intron_variant BRCA-EU 17 18678679 18678679 single base substitution G A downstream_gene_variant BRCA-EU 17 18678679 18678679 single base substitution G A intron_variant BRCA-EU 17 18679851 18679851 single base substitution T C downstream_gene_variant BRCA-EU 17 18679851 18679851 single base substitution T C intron_variant BRCA-EU 17 18680089 18680089 single base substitution G A downstream_gene_variant BRCA-EU 17 18680089 18680089 single base substitution G A intron_variant BRCA-EU 17 18680406 18680406 single base substitution A G downstream_gene_variant BRCA-EU 17 18680406 18680406 single base substitution A G intron_variant BRCA-EU 17 18684721 18684721 single base substitution C T downstream_gene_variant BRCA-EU 17 18684892 18684892 single base substitution C T downstream_gene_variant BRCA-EU 17 18686915 18686915 single base substitution T C downstream_gene_variant BRCA-EU 17 18687006 18687006 single base substitution C G downstream_gene_variant BRCA-FR 17 18647328 18647328 single base substitution G A 5_prime_UTR_variant BRCA-FR 17 18647328 18647328 single base substitution G A upstream_gene_variant BRCA-FR 17 18647651 18647651 single base substitution T C exon_variant BRCA-FR 17 18647651 18647651 single base substitution T C missense_variant C32R 94T>C BRCA-FR 17 18658957 18658957 single base substitution C G intron_variant BRCA-FR 17 18661196 18661196 single base substitution C G intron_variant BRCA-FR 17 18666790 18666790 single base substitution C T intron_variant BRCA-FR 17 18674197 18674197 single base substitution T G intron_variant BRCA-FR 17 18674638 18674638 single base substitution A G intron_variant BRCA-FR 17 18674648 18674648 single base substitution G A intron_variant BRCA-FR 17 18678095 18678095 single base substitution C T downstream_gene_variant BRCA-FR 17 18678095 18678095 single base substitution C T intron_variant BRCA-FR 17 18680406 18680406 single base substitution A G downstream_gene_variant BRCA-FR 17 18680406 18680406 single base substitution A G intron_variant BRCA-FR 17 18680605 18680605 single base substitution G A downstream_gene_variant BRCA-FR 17 18680605 18680605 single base substitution G A intron_variant BRCA-KR 17 18647674 18647674 single base substitution C A exon_variant BRCA-KR 17 18647674 18647674 single base substitution C A missense_variant F39L 117C>A BRCA-UK 17 18652946 18652946 single base substitution C G intron_variant BRCA-UK 17 18660725 18660725 single base substitution T C intron_variant BRCA-UK 17 18660861 18660861 single base substitution G A intron_variant BRCA-UK 17 18674975 18674975 single base substitution C G intron_variant BRCA-UK 17 18679305 18679305 single base substitution G A downstream_gene_variant BRCA-UK 17 18679305 18679305 single base substitution G A intron_variant BRCA-US 17 18661706 18661706 single base substitution C T 3_prime_UTR_variant BRCA-US 17 18661706 18661706 single base substitution C T stop_gained Q441* 1321C>T BRCA-US 17 18661706 18661706 single base substitution C T stop_gained Q470* 1408C>T BRCA-US 17 18668054 18668054 single base substitution G C splice_acceptor_variant BRCA-US 17 18668054 18668054 single base substitution G C upstream_gene_variant BRCA-US 17 18670066 18670066 single base substitution G C 3_prime_UTR_variant BRCA-US 17 18670066 18670066 single base substitution G C missense_variant R532T 1595G>C BRCA-US 17 18670066 18670066 single base substitution G C missense_variant R561T 1682G>C BRCA-US 17 18670066 18670066 single base substitution G C upstream_gene_variant BRCA-US 17 18681814 18681814 single base substitution C G intron_variant BRCA-US 17 18681814 18681814 single base substitution C G missense_variant Q735E 2203C>G BRCA-US 17 18681814 18681814 single base substitution C G missense_variant Q787E 2359C>G BRCA-US 17 18681814 18681814 single base substitution C G missense_variant Q788E 2362C>G BRCA-US 17 18681814 18681814 single base substitution C G missense_variant Q797E 2389C>G BRCA-US 17 18682399 18682399 single base substitution A G 3_prime_UTR_variant BRCA-US 17 18682399 18682399 single base substitution A G missense_variant T930A 2788A>G BRCA-US 17 18682399 18682399 single base substitution A G missense_variant T982A 2944A>G BRCA-US 17 18682399 18682399 single base substitution A G missense_variant T983A 2947A>G BRCA-US 17 18682399 18682399 single base substitution A G missense_variant T992A 2974A>G BRCA-US 17 18682505 18682505 single base substitution T C 3_prime_UTR_variant BRCA-US 17 18682505 18682505 single base substitution T C missense_variant V1017A 3050T>C BRCA-US 17 18682505 18682505 single base substitution T C missense_variant V1018A 3053T>C BRCA-US 17 18682505 18682505 single base substitution T C missense_variant V1027A 3080T>C BRCA-US 17 18682505 18682505 single base substitution T C missense_variant V965A 2894T>C BTCA-JP 17 18653310 18653310 deletion of <=200bp T - frameshift_variant F316 BTCA-JP 17 18653310 18653310 deletion of <=200bp T - intron_variant BTCA-JP 17 18654245 18654245 single base substitution G T missense_variant G334V 1001G>T BTCA-JP 17 18654245 18654245 single base substitution G T missense_variant G363V 1088G>T BTCA-JP 17 18654245 18654245 single base substitution G T splice_region_variant BTCA-JP 17 18682632 18682632 single base substitution A G 3_prime_UTR_variant BTCA-JP 17 18682732 18682732 single base substitution G A downstream_gene_variant BTCA-JP 17 18682742 18682742 single base substitution T C downstream_gene_variant CESC-US 17 18647791 18647791 single base substitution G C exon_variant CESC-US 17 18647791 18647791 single base substitution G C missense_variant Q78H 234G>C CESC-US 17 18659415 18659415 single base substitution G C 3_prime_UTR_variant CESC-US 17 18659415 18659415 single base substitution G C missense_variant E394Q 1180G>C CESC-US 17 18659415 18659415 single base substitution G C missense_variant E423Q 1267G>C CESC-US 17 18682026 18682026 single base substitution C A intron_variant CESC-US 17 18682026 18682026 single base substitution C A missense_variant F805L 2415C>A CESC-US 17 18682026 18682026 single base substitution C A missense_variant F857L 2571C>A CESC-US 17 18682026 18682026 single base substitution C A missense_variant F858L 2574C>A CESC-US 17 18682026 18682026 single base substitution C A missense_variant F867L 2601C>A CLLE-ES 17 18642594 18642594 single base substitution C T upstream_gene_variant CLLE-ES 17 18664292 18664292 single base substitution G A intron_variant CLLE-ES 17 18671878 18671878 single base substitution G T 3_prime_UTR_variant CLLE-ES 17 18671878 18671878 single base substitution G T missense_variant C579F 1736G>T CLLE-ES 17 18671878 18671878 single base substitution G T missense_variant C608F 1823G>T CLLE-ES 17 18671878 18671878 single base substitution G T upstream_gene_variant CLLE-ES 17 18675488 18675488 single base substitution T C intron_variant COAD-US 17 18647625 18647625 single base substitution T A exon_variant COAD-US 17 18647625 18647625 single base substitution T A missense_variant I23N 68T>A COAD-US 17 18653079 18653079 single base substitution A C 3_prime_UTR_variant COAD-US 17 18653079 18653079 single base substitution A C synonymous_variant R239R 715A>C COAD-US 17 18653145 18653145 single base substitution C G 3_prime_UTR_variant COAD-US 17 18653145 18653145 single base substitution C G missense_variant L261V 781C>G COAD-US 17 18654331 18654331 single base substitution C T 3_prime_UTR_variant COAD-US 17 18654331 18654331 single base substitution C T missense_variant R363C 1087C>T COAD-US 17 18654331 18654331 single base substitution C T missense_variant R392C 1174C>T COAD-US 17 18668094 18668094 single base substitution C T 3_prime_UTR_variant COAD-US 17 18668094 18668094 single base substitution C T synonymous_variant F491F 1473C>T COAD-US 17 18668094 18668094 single base substitution C T synonymous_variant F520F 1560C>T COAD-US 17 18668094 18668094 single base substitution C T upstream_gene_variant COAD-US 17 18671961 18671961 single base substitution C T 3_prime_UTR_variant COAD-US 17 18671961 18671961 single base substitution C T missense_variant R607C 1819C>T COAD-US 17 18671961 18671961 single base substitution C T missense_variant R636C 1906C>T COAD-US 17 18671961 18671961 single base substitution C T upstream_gene_variant COAD-US 17 18681919 18681919 single base substitution C T intron_variant COAD-US 17 18681919 18681919 single base substitution C T stop_gained Q770* 2308C>T COAD-US 17 18681919 18681919 single base substitution C T stop_gained Q822* 2464C>T COAD-US 17 18681919 18681919 single base substitution C T stop_gained Q823* 2467C>T COAD-US 17 18681919 18681919 single base substitution C T stop_gained Q832* 2494C>T COAD-US 17 18681926 18681926 single base substitution C T intron_variant COAD-US 17 18681926 18681926 single base substitution C T missense_variant A772V 2315C>T COAD-US 17 18681926 18681926 single base substitution C T missense_variant A824V 2471C>T COAD-US 17 18681926 18681926 single base substitution C T missense_variant A825V 2474C>T COAD-US 17 18681926 18681926 single base substitution C T missense_variant A834V 2501C>T COCA-CN 17 18647539 18647539 single base substitution G A 5_prime_UTR_variant COCA-CN 17 18647615 18647615 single base substitution A G exon_variant COCA-CN 17 18647615 18647615 single base substitution A G missense_variant T20A 58A>G COCA-CN 17 18651173 18651173 single base substitution A C intron_variant COCA-CN 17 18653010 18653010 single base substitution G A intron_variant COCA-CN 17 18653021 18653021 single base substitution T C intron_variant COCA-CN 17 18653036 18653036 single base substitution G T missense_variant E224D 672G>T COCA-CN 17 18653036 18653036 single base substitution G T splice_region_variant COCA-CN 17 18653145 18653145 single base substitution C G 3_prime_UTR_variant COCA-CN 17 18653145 18653145 single base substitution C G missense_variant L261V 781C>G COCA-CN 17 18653314 18653314 single base substitution T G intron_variant COCA-CN 17 18653314 18653314 single base substitution T G missense_variant F317C 950T>G COCA-CN 17 18653319 18653319 single base substitution C T missense_variant P319S 955C>T COCA-CN 17 18653319 18653319 single base substitution C T splice_region_variant COCA-CN 17 18661743 18661743 single base substitution C T 3_prime_UTR_variant COCA-CN 17 18661743 18661743 single base substitution C T missense_variant A453V 1358C>T COCA-CN 17 18661743 18661743 single base substitution C T missense_variant A482V 1445C>T COCA-CN 17 18667976 18667976 single base substitution C A intron_variant COCA-CN 17 18667976 18667976 single base substitution C A upstream_gene_variant COCA-CN 17 18668262 18668262 single base substitution G A intron_variant COCA-CN 17 18668262 18668262 single base substitution G A upstream_gene_variant COCA-CN 17 18668269 18668269 single base substitution G C intron_variant COCA-CN 17 18668269 18668269 single base substitution G C upstream_gene_variant COCA-CN 17 18681957 18681957 single base substitution T C intron_variant COCA-CN 17 18681957 18681957 single base substitution T C synonymous_variant C782C 2346T>C COCA-CN 17 18681957 18681957 single base substitution T C synonymous_variant C834C 2502T>C COCA-CN 17 18681957 18681957 single base substitution T C synonymous_variant C835C 2505T>C COCA-CN 17 18681957 18681957 single base substitution T C synonymous_variant C844C 2532T>C COCA-CN 17 18682163 18682163 single base substitution T C intron_variant COCA-CN 17 18682163 18682163 single base substitution T C missense_variant V851A 2552T>C COCA-CN 17 18682163 18682163 single base substitution T C missense_variant V903A 2708T>C COCA-CN 17 18682163 18682163 single base substitution T C missense_variant V904A 2711T>C COCA-CN 17 18682163 18682163 single base substitution T C missense_variant V913A 2738T>C COCA-CN 17 18682409 18682409 single base substitution T C 3_prime_UTR_variant COCA-CN 17 18682409 18682409 single base substitution T C missense_variant V933A 2798T>C COCA-CN 17 18682409 18682409 single base substitution T C missense_variant V985A 2954T>C COCA-CN 17 18682409 18682409 single base substitution T C missense_variant V986A 2957T>C COCA-CN 17 18682409 18682409 single base substitution T C missense_variant V995A 2984T>C EOPC-DE 17 18660410 18660410 single base substitution C T intron_variant EOPC-DE 17 18674975 18674975 single base substitution C G intron_variant EOPC-DE 17 18675015 18675015 single base substitution A C intron_variant EOPC-DE 17 18675027 18675027 single base substitution G C intron_variant ESAD-UK 17 18644402 18644402 single base substitution G A upstream_gene_variant ESAD-UK 17 18646670 18646670 single base substitution G A upstream_gene_variant ESAD-UK 17 18647193 18647193 single base substitution A C upstream_gene_variant ESAD-UK 17 18655481 18655481 single base substitution A C intron_variant ESAD-UK 17 18658801 18658801 single base substitution G A intron_variant ESAD-UK 17 18660446 18660446 insertion of <=200bp - TA intron_variant ESAD-UK 17 18664127 18664127 single base substitution A G intron_variant ESAD-UK 17 18665288 18665288 single base substitution T C intron_variant ESAD-UK 17 18669672 18669672 single base substitution T G intron_variant ESAD-UK 17 18669672 18669672 single base substitution T G upstream_gene_variant ESAD-UK 17 18671346 18671347 deletion of <=200bp TC - intron_variant ESAD-UK 17 18671346 18671347 deletion of <=200bp TC - upstream_gene_variant ESAD-UK 17 18675368 18675368 single base substitution T C intron_variant ESAD-UK 17 18678137 18678137 single base substitution C A downstream_gene_variant ESAD-UK 17 18678137 18678137 single base substitution C A intron_variant ESAD-UK 17 18687651 18687651 single base substitution G A downstream_gene_variant ESCA-CN 17 18682001 18682001 single base substitution C T intron_variant ESCA-CN 17 18682001 18682001 single base substitution C T missense_variant S797L 2390C>T ESCA-CN 17 18682001 18682001 single base substitution C T missense_variant S849L 2546C>T ESCA-CN 17 18682001 18682001 single base substitution C T missense_variant S850L 2549C>T ESCA-CN 17 18682001 18682001 single base substitution C T missense_variant S859L 2576C>T ESCA-CN 17 18682328 18682328 single base substitution G A intron_variant ESCA-CN 17 18682328 18682328 single base substitution G A missense_variant G906D 2717G>A ESCA-CN 17 18682328 18682328 single base substitution G A missense_variant G958D 2873G>A ESCA-CN 17 18682328 18682328 single base substitution G A missense_variant G959D 2876G>A ESCA-CN 17 18682328 18682328 single base substitution G A missense_variant G968D 2903G>A ESCA-CN 17 18682505 18682505 single base substitution T C 3_prime_UTR_variant ESCA-CN 17 18682505 18682505 single base substitution T C missense_variant V1017A 3050T>C ESCA-CN 17 18682505 18682505 single base substitution T C missense_variant V1018A 3053T>C ESCA-CN 17 18682505 18682505 single base substitution T C missense_variant V1027A 3080T>C ESCA-CN 17 18682505 18682505 single base substitution T C missense_variant V965A 2894T>C ESCA-CN 17 18684487 18684487 single base substitution A G downstream_gene_variant GBM-US 17 18651317 18651317 single base substitution C T 3_prime_UTR_variant GBM-US 17 18651317 18651317 single base substitution C T missense_variant A190V 569C>T KIRC-US 17 18682177 18682177 single base substitution C A intron_variant KIRC-US 17 18682177 18682177 single base substitution C A missense_variant P856T 2566C>A KIRC-US 17 18682177 18682177 single base substitution C A missense_variant P908T 2722C>A KIRC-US 17 18682177 18682177 single base substitution C A missense_variant P909T 2725C>A KIRC-US 17 18682177 18682177 single base substitution C A missense_variant P918T 2752C>A KIRP-US 17 18653137 18653137 single base substitution T A 3_prime_UTR_variant KIRP-US 17 18653137 18653137 single base substitution T A stop_gained L258* 773T>A LAML-KR 17 18653010 18653010 single base substitution G A intron_variant LAML-KR 17 18653021 18653021 single base substitution T C intron_variant LAML-KR 17 18653145 18653145 single base substitution C G 3_prime_UTR_variant LAML-KR 17 18653145 18653145 single base substitution C G missense_variant L261V 781C>G LAML-KR 17 18653225 18653225 single base substitution G A 3_prime_UTR_variant LAML-KR 17 18653225 18653225 single base substitution G A synonymous_variant K287K 861G>A LAML-KR 17 18658823 18658823 single base substitution C T intron_variant LAML-KR 17 18661077 18661077 single base substitution C T intron_variant LAML-KR 17 18661908 18661908 single base substitution T G intron_variant LAML-KR 17 18662944 18662944 single base substitution G T intron_variant LAML-KR 17 18667976 18667976 single base substitution C A intron_variant LAML-KR 17 18667976 18667976 single base substitution C A upstream_gene_variant LAML-KR 17 18668269 18668269 single base substitution G C intron_variant LAML-KR 17 18668269 18668269 single base substitution G C upstream_gene_variant LAML-KR 17 18668358 18668358 single base substitution G A intron_variant LAML-KR 17 18668358 18668358 single base substitution G A upstream_gene_variant LAML-KR 17 18668379 18668379 single base substitution A G intron_variant LAML-KR 17 18668379 18668379 single base substitution A G upstream_gene_variant LAML-KR 17 18669184 18669184 single base substitution C T intron_variant LAML-KR 17 18669184 18669184 single base substitution C T upstream_gene_variant LAML-KR 17 18671376 18671376 single base substitution T C intron_variant LAML-KR 17 18671376 18671376 single base substitution T C upstream_gene_variant LAML-KR 17 18673528 18673528 single base substitution C T intron_variant LAML-KR 17 18682163 18682163 single base substitution T C intron_variant LAML-KR 17 18682163 18682163 single base substitution T C missense_variant V851A 2552T>C LAML-KR 17 18682163 18682163 single base substitution T C missense_variant V903A 2708T>C LAML-KR 17 18682163 18682163 single base substitution T C missense_variant V904A 2711T>C LAML-KR 17 18682163 18682163 single base substitution T C missense_variant V913A 2738T>C LAML-KR 17 18682505 18682505 single base substitution T C 3_prime_UTR_variant LAML-KR 17 18682505 18682505 single base substitution T C missense_variant V1017A 3050T>C LAML-KR 17 18682505 18682505 single base substitution T C missense_variant V1018A 3053T>C LAML-KR 17 18682505 18682505 single base substitution T C missense_variant V1027A 3080T>C LAML-KR 17 18682505 18682505 single base substitution T C missense_variant V965A 2894T>C LAML-KR 17 18682732 18682732 single base substitution G A downstream_gene_variant LAML-KR 17 18682742 18682742 single base substitution T C downstream_gene_variant LAML-KR 17 18683454 18683454 single base substitution T C downstream_gene_variant LGG-US 17 18653309 18653309 insertion of <=200bp - T frameshift_variant I315I? LGG-US 17 18653309 18653309 insertion of <=200bp - T intron_variant LGG-US 17 18675863 18675866 deletion of <=200bp TCTC - 3_prime_UTR_variant LGG-US 17 18675863 18675866 deletion of <=200bp TCTC - exon_variant LGG-US 17 18675863 18675866 deletion of <=200bp TCTC - frameshift_variant IL662 LGG-US 17 18675863 18675866 deletion of <=200bp TCTC - frameshift_variant IL715 LGG-US 17 18675863 18675866 deletion of <=200bp TCTC - frameshift_variant IL744 LICA-CN 17 18682309 18682309 single base substitution A T intron_variant LICA-CN 17 18682309 18682309 single base substitution A T missense_variant M900L 2698A>T LICA-CN 17 18682309 18682309 single base substitution A T missense_variant M952L 2854A>T LICA-CN 17 18682309 18682309 single base substitution A T missense_variant M953L 2857A>T LICA-CN 17 18682309 18682309 single base substitution A T missense_variant M962L 2884A>T LICA-FR 17 18650102 18650102 single base substitution G A intron_variant LICA-FR 17 18668358 18668358 single base substitution G A intron_variant LICA-FR 17 18668358 18668358 single base substitution G A upstream_gene_variant LICA-FR 17 18669615 18669615 single base substitution T A intron_variant LICA-FR 17 18669615 18669615 single base substitution T A upstream_gene_variant LICA-FR 17 18671364 18671364 single base substitution C T intron_variant LICA-FR 17 18671364 18671364 single base substitution C T upstream_gene_variant LIHC-US 17 18653121 18653121 single base substitution G A 3_prime_UTR_variant LIHC-US 17 18653121 18653121 single base substitution G A missense_variant D253N 757G>A LIHC-US 17 18653220 18653220 single base substitution T C 3_prime_UTR_variant LIHC-US 17 18653220 18653220 single base substitution T C missense_variant S286P 856T>C LINC-JP 17 18654212 18654212 single base substitution A G intron_variant LINC-JP 17 18654553 18654553 single base substitution T A intron_variant LINC-JP 17 18663400 18663400 single base substitution A G intron_variant LINC-JP 17 18671932 18671932 single base substitution T C 3_prime_UTR_variant LINC-JP 17 18671932 18671932 single base substitution T C missense_variant M597T 1790T>C LINC-JP 17 18671932 18671932 single base substitution T C missense_variant M626T 1877T>C LINC-JP 17 18671932 18671932 single base substitution T C upstream_gene_variant LINC-JP 17 18672540 18672540 single base substitution G C intron_variant LINC-JP 17 18672540 18672540 single base substitution G C upstream_gene_variant LIRI-JP 17 18643231 18643231 single base substitution A G upstream_gene_variant LIRI-JP 17 18644968 18644968 single base substitution T C upstream_gene_variant LIRI-JP 17 18654728 18654728 single base substitution G A intron_variant LIRI-JP 17 18655512 18655512 single base substitution G C intron_variant LIRI-JP 17 18656606 18656606 single base substitution T C intron_variant LIRI-JP 17 18660501 18660501 single base substitution T C intron_variant LIRI-JP 17 18660502 18660502 single base substitution G A intron_variant LIRI-JP 17 18662986 18662986 single base substitution C T intron_variant LIRI-JP 17 18663130 18663130 single base substitution A G intron_variant LIRI-JP 17 18663684 18663684 single base substitution C T intron_variant LIRI-JP 17 18663786 18663786 single base substitution G T intron_variant LIRI-JP 17 18664085 18664085 single base substitution T G intron_variant LIRI-JP 17 18665394 18665394 single base substitution G T intron_variant LIRI-JP 17 18665427 18665427 single base substitution C T intron_variant LIRI-JP 17 18667844 18667844 single base substitution A G intron_variant LIRI-JP 17 18667844 18667844 single base substitution A G upstream_gene_variant LIRI-JP 17 18668358 18668358 single base substitution G A intron_variant LIRI-JP 17 18668358 18668358 single base substitution G A upstream_gene_variant LIRI-JP 17 18668360 18668360 single base substitution T C intron_variant LIRI-JP 17 18668360 18668360 single base substitution T C upstream_gene_variant LIRI-JP 17 18669088 18669088 single base substitution A G intron_variant LIRI-JP 17 18669088 18669088 single base substitution A G upstream_gene_variant LIRI-JP 17 18669402 18669402 single base substitution C G intron_variant LIRI-JP 17 18669402 18669402 single base substitution C G upstream_gene_variant LIRI-JP 17 18669684 18669684 single base substitution C G intron_variant LIRI-JP 17 18669684 18669684 single base substitution C G upstream_gene_variant LIRI-JP 17 18669960 18669960 single base substitution A T intron_variant LIRI-JP 17 18669960 18669960 single base substitution A T upstream_gene_variant LIRI-JP 17 18675581 18675581 single base substitution C A intron_variant LIRI-JP 17 18676687 18676687 single base substitution C G downstream_gene_variant LIRI-JP 17 18676687 18676687 single base substitution C G intron_variant LIRI-JP 17 18677744 18677744 single base substitution T C downstream_gene_variant LIRI-JP 17 18677744 18677744 single base substitution T C intron_variant LIRI-JP 17 18678327 18678327 single base substitution A C downstream_gene_variant LIRI-JP 17 18678327 18678327 single base substitution A C intron_variant LIRI-JP 17 18683731 18683731 single base substitution C A downstream_gene_variant LIRI-JP 17 18686401 18686401 single base substitution T G downstream_gene_variant LUSC-KR 17 18644298 18644298 single base substitution T C upstream_gene_variant LUSC-KR 17 18645186 18645186 single base substitution G A upstream_gene_variant LUSC-KR 17 18647348 18647348 single base substitution G A 5_prime_UTR_variant LUSC-KR 17 18647348 18647348 single base substitution G A upstream_gene_variant LUSC-KR 17 18647539 18647539 single base substitution G A 5_prime_UTR_variant LUSC-KR 17 18652946 18652946 single base substitution C G intron_variant LUSC-KR 17 18653010 18653010 single base substitution G A intron_variant LUSC-KR 17 18653021 18653021 single base substitution T C intron_variant LUSC-KR 17 18653145 18653145 single base substitution C G 3_prime_UTR_variant LUSC-KR 17 18653145 18653145 single base substitution C G missense_variant L261V 781C>G LUSC-KR 17 18659259 18659259 single base substitution C T intron_variant LUSC-KR 17 18659367 18659367 single base substitution A G 3_prime_UTR_variant LUSC-KR 17 18659367 18659367 single base substitution A G missense_variant N378D 1132A>G LUSC-KR 17 18659367 18659367 single base substitution A G missense_variant N407D 1219A>G LUSC-KR 17 18660065 18660065 single base substitution T G intron_variant LUSC-KR 17 18660097 18660097 single base substitution G A intron_variant LUSC-KR 17 18660342 18660342 single base substitution G A intron_variant LUSC-KR 17 18660344 18660344 single base substitution C A intron_variant LUSC-KR 17 18660501 18660501 single base substitution T C intron_variant LUSC-KR 17 18660502 18660502 single base substitution G A intron_variant LUSC-KR 17 18660609 18660609 single base substitution G C intron_variant LUSC-KR 17 18660653 18660653 single base substitution T C intron_variant LUSC-KR 17 18661077 18661077 single base substitution C T intron_variant LUSC-KR 17 18661679 18661679 single base substitution C T 3_prime_UTR_variant LUSC-KR 17 18661679 18661679 single base substitution C T stop_gained R432* 1294C>T LUSC-KR 17 18661679 18661679 single base substitution C T stop_gained R461* 1381C>T LUSC-KR 17 18663175 18663175 single base substitution G A intron_variant LUSC-KR 17 18663279 18663279 single base substitution G A intron_variant LUSC-KR 17 18663491 18663491 single base substitution G A intron_variant LUSC-KR 17 18663761 18663761 single base substitution C A intron_variant LUSC-KR 17 18664158 18664158 single base substitution T C intron_variant LUSC-KR 17 18664191 18664191 single base substitution T C intron_variant LUSC-KR 17 18665518 18665518 single base substitution A G intron_variant LUSC-KR 17 18665551 18665551 single base substitution T A intron_variant LUSC-KR 17 18666694 18666694 single base substitution C T intron_variant LUSC-KR 17 18668269 18668269 single base substitution G C intron_variant LUSC-KR 17 18668269 18668269 single base substitution G C upstream_gene_variant LUSC-KR 17 18669615 18669615 single base substitution T A intron_variant LUSC-KR 17 18669615 18669615 single base substitution T A upstream_gene_variant LUSC-KR 17 18669655 18669655 single base substitution C G intron_variant LUSC-KR 17 18669655 18669655 single base substitution C G upstream_gene_variant LUSC-KR 17 18669720 18669720 single base substitution T C intron_variant LUSC-KR 17 18669720 18669720 single base substitution T C upstream_gene_variant LUSC-KR 17 18670741 18670741 single base substitution C T intron_variant LUSC-KR 17 18670741 18670741 single base substitution C T upstream_gene_variant LUSC-KR 17 18670846 18670846 single base substitution A T intron_variant LUSC-KR 17 18670846 18670846 single base substitution A T upstream_gene_variant LUSC-KR 17 18671364 18671364 single base substitution C T intron_variant LUSC-KR 17 18671364 18671364 single base substitution C T upstream_gene_variant LUSC-KR 17 18673528 18673528 single base substitution C T intron_variant LUSC-KR 17 18673679 18673679 single base substitution T C intron_variant LUSC-KR 17 18673776 18673776 single base substitution C T intron_variant LUSC-KR 17 18676142 18676142 single base substitution A G downstream_gene_variant LUSC-KR 17 18676142 18676142 single base substitution A G intron_variant LUSC-KR 17 18681519 18681519 single base substitution T A intron_variant LUSC-KR 17 18682163 18682163 single base substitution T C intron_variant LUSC-KR 17 18682163 18682163 single base substitution T C missense_variant V851A 2552T>C LUSC-KR 17 18682163 18682163 single base substitution T C missense_variant V903A 2708T>C LUSC-KR 17 18682163 18682163 single base substitution T C missense_variant V904A 2711T>C LUSC-KR 17 18682163 18682163 single base substitution T C missense_variant V913A 2738T>C LUSC-KR 17 18682632 18682632 single base substitution A G 3_prime_UTR_variant LUSC-KR 17 18683454 18683454 single base substitution T C downstream_gene_variant LUSC-US 17 18647829 18647829 single base substitution G A exon_variant LUSC-US 17 18647829 18647829 single base substitution G A missense_variant R91Q 272G>A LUSC-US 17 18647967 18647967 single base substitution C T exon_variant LUSC-US 17 18647967 18647967 single base substitution C T missense_variant T137I 410C>T LUSC-US 17 18647983 18647983 single base substitution G C exon_variant LUSC-US 17 18647983 18647983 single base substitution G C missense_variant Q142H 426G>C LUSC-US 17 18668086 18668086 single base substitution C T 3_prime_UTR_variant LUSC-US 17 18668086 18668086 single base substitution C T stop_gained R489* 1465C>T LUSC-US 17 18668086 18668086 single base substitution C T stop_gained R518* 1552C>T LUSC-US 17 18668086 18668086 single base substitution C T upstream_gene_variant LUSC-US 17 18682174 18682174 single base substitution A G intron_variant LUSC-US 17 18682174 18682174 single base substitution A G missense_variant I855V 2563A>G LUSC-US 17 18682174 18682174 single base substitution A G missense_variant I907V 2719A>G LUSC-US 17 18682174 18682174 single base substitution A G missense_variant I908V 2722A>G LUSC-US 17 18682174 18682174 single base substitution A G missense_variant I917V 2749A>G LUSC-US 17 18682490 18682490 single base substitution T C 3_prime_UTR_variant LUSC-US 17 18682490 18682490 single base substitution T C missense_variant V1012A 3035T>C LUSC-US 17 18682490 18682490 single base substitution T C missense_variant V1013A 3038T>C LUSC-US 17 18682490 18682490 single base substitution T C missense_variant V1022A 3065T>C LUSC-US 17 18682490 18682490 single base substitution T C missense_variant V960A 2879T>C MALY-DE 17 18648737 18648737 insertion of <=200bp - T intron_variant MALY-DE 17 18669609 18669609 single base substitution A G intron_variant MALY-DE 17 18669609 18669609 single base substitution A G upstream_gene_variant MALY-DE 17 18676009 18676009 single base substitution A G downstream_gene_variant MALY-DE 17 18676009 18676009 single base substitution A G intron_variant MALY-DE 17 18684351 18684351 single base substitution T A downstream_gene_variant MALY-DE 17 18684422 18684436 deletion of <=200bp CCGCTCGCCCCGCCC - downstream_gene_variant MELA-AU 17 18642453 18642453 single base substitution C T upstream_gene_variant MELA-AU 17 18642760 18642760 single base substitution G A upstream_gene_variant MELA-AU 17 18642826 18642826 single base substitution C T upstream_gene_variant MELA-AU 17 18643108 18643108 single base substitution C T upstream_gene_variant MELA-AU 17 18643465 18643465 single base substitution C T upstream_gene_variant MELA-AU 17 18643512 18643512 single base substitution C T upstream_gene_variant MELA-AU 17 18643956 18643956 single base substitution T C upstream_gene_variant MELA-AU 17 18644003 18644003 single base substitution G C upstream_gene_variant MELA-AU 17 18644104 18644104 single base substitution C T upstream_gene_variant MELA-AU 17 18644116 18644116 single base substitution T C upstream_gene_variant MELA-AU 17 18644164 18644165 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 18644264 18644264 single base substitution C T upstream_gene_variant MELA-AU 17 18644852 18644852 single base substitution C T upstream_gene_variant MELA-AU 17 18644922 18644922 single base substitution G A upstream_gene_variant MELA-AU 17 18644926 18644926 single base substitution C T upstream_gene_variant MELA-AU 17 18645009 18645009 single base substitution C T upstream_gene_variant MELA-AU 17 18645167 18645167 single base substitution C T upstream_gene_variant MELA-AU 17 18645315 18645315 single base substitution G A upstream_gene_variant MELA-AU 17 18645858 18645858 single base substitution G T upstream_gene_variant MELA-AU 17 18646188 18646188 single base substitution A T upstream_gene_variant MELA-AU 17 18646298 18646298 single base substitution G A upstream_gene_variant MELA-AU 17 18646405 18646405 single base substitution C T upstream_gene_variant MELA-AU 17 18646509 18646509 single base substitution C T upstream_gene_variant MELA-AU 17 18646580 18646580 single base substitution G A upstream_gene_variant MELA-AU 17 18646798 18646798 single base substitution G A upstream_gene_variant MELA-AU 17 18646893 18646893 single base substitution G A upstream_gene_variant MELA-AU 17 18647600 18647600 single base substitution C T exon_variant MELA-AU 17 18647600 18647600 single base substitution C T missense_variant R15C 43C>T MELA-AU 17 18648996 18648996 single base substitution G A intron_variant MELA-AU 17 18649029 18649029 single base substitution G A intron_variant MELA-AU 17 18649099 18649099 single base substitution C T intron_variant MELA-AU 17 18649399 18649399 single base substitution G A intron_variant MELA-AU 17 18649434 18649434 single base substitution G A intron_variant MELA-AU 17 18649647 18649647 single base substitution G A intron_variant MELA-AU 17 18650195 18650195 single base substitution A T intron_variant MELA-AU 17 18650458 18650458 single base substitution C T intron_variant MELA-AU 17 18650824 18650824 single base substitution G A intron_variant MELA-AU 17 18651175 18651175 single base substitution T G intron_variant MELA-AU 17 18651196 18651196 single base substitution C T intron_variant MELA-AU 17 18652167 18652167 single base substitution G A intron_variant MELA-AU 17 18652345 18652345 single base substitution G A intron_variant MELA-AU 17 18652381 18652381 single base substitution C T intron_variant MELA-AU 17 18652412 18652412 single base substitution C T intron_variant MELA-AU 17 18652413 18652413 single base substitution C T intron_variant MELA-AU 17 18652875 18652875 single base substitution C T intron_variant MELA-AU 17 18652966 18652966 single base substitution G A intron_variant MELA-AU 17 18653013 18653013 single base substitution C T intron_variant MELA-AU 17 18653068 18653068 single base substitution C T 3_prime_UTR_variant MELA-AU 17 18653068 18653068 single base substitution C T missense_variant S235F 704C>T MELA-AU 17 18653610 18653610 single base substitution C T intron_variant MELA-AU 17 18654149 18654149 single base substitution C A intron_variant MELA-AU 17 18654164 18654164 single base substitution C T intron_variant MELA-AU 17 18654257 18654257 single base substitution G A 3_prime_UTR_variant MELA-AU 17 18654257 18654257 single base substitution G A missense_variant R338K 1013G>A MELA-AU 17 18654257 18654257 single base substitution G A missense_variant R367K 1100G>A MELA-AU 17 18654268 18654268 single base substitution C T 3_prime_UTR_variant MELA-AU 17 18654268 18654268 single base substitution C T missense_variant P342S 1024C>T MELA-AU 17 18654268 18654268 single base substitution C T missense_variant P371S 1111C>T MELA-AU 17 18654425 18654425 single base substitution G A intron_variant MELA-AU 17 18654662 18654662 single base substitution C T intron_variant MELA-AU 17 18655222 18655222 single base substitution G A intron_variant MELA-AU 17 18655507 18655507 single base substitution G A intron_variant MELA-AU 17 18655733 18655733 single base substitution A T intron_variant MELA-AU 17 18655975 18655975 single base substitution G A intron_variant MELA-AU 17 18655995 18655995 single base substitution C T intron_variant MELA-AU 17 18656061 18656061 single base substitution C T intron_variant MELA-AU 17 18656167 18656167 single base substitution G A intron_variant MELA-AU 17 18656256 18656256 single base substitution G A intron_variant MELA-AU 17 18656395 18656395 single base substitution C T intron_variant MELA-AU 17 18656587 18656587 single base substitution C T intron_variant MELA-AU 17 18657218 18657218 single base substitution G A intron_variant MELA-AU 17 18658055 18658055 single base substitution G A intron_variant MELA-AU 17 18658166 18658166 single base substitution C T intron_variant MELA-AU 17 18658403 18658403 single base substitution C T intron_variant MELA-AU 17 18658460 18658460 single base substitution C T intron_variant MELA-AU 17 18658865 18658865 single base substitution C T intron_variant MELA-AU 17 18658932 18658932 single base substitution C T intron_variant MELA-AU 17 18659254 18659254 single base substitution G T intron_variant MELA-AU 17 18659258 18659258 single base substitution C T intron_variant MELA-AU 17 18660126 18660126 single base substitution G A intron_variant MELA-AU 17 18660295 18660295 single base substitution G A intron_variant MELA-AU 17 18660687 18660687 single base substitution G A intron_variant MELA-AU 17 18660707 18660707 single base substitution G A intron_variant MELA-AU 17 18660750 18660750 single base substitution C T intron_variant MELA-AU 17 18661203 18661203 single base substitution G A intron_variant MELA-AU 17 18661342 18661342 single base substitution C T intron_variant MELA-AU 17 18661492 18661492 single base substitution C T intron_variant MELA-AU 17 18661920 18661920 single base substitution C T intron_variant MELA-AU 17 18662298 18662298 single base substitution G A intron_variant MELA-AU 17 18662303 18662303 single base substitution A G intron_variant MELA-AU 17 18662786 18662786 single base substitution G A intron_variant MELA-AU 17 18662863 18662863 single base substitution G A intron_variant MELA-AU 17 18663014 18663014 single base substitution C T intron_variant MELA-AU 17 18663163 18663163 single base substitution C T intron_variant MELA-AU 17 18663336 18663336 single base substitution G A intron_variant MELA-AU 17 18663684 18663684 single base substitution C T intron_variant MELA-AU 17 18663970 18663970 single base substitution G A intron_variant MELA-AU 17 18664018 18664018 single base substitution G A intron_variant MELA-AU 17 18664417 18664417 single base substitution C T intron_variant MELA-AU 17 18664559 18664559 single base substitution G A intron_variant MELA-AU 17 18664816 18664816 single base substitution G A intron_variant MELA-AU 17 18665401 18665401 single base substitution G A intron_variant MELA-AU 17 18666044 18666044 single base substitution G A intron_variant MELA-AU 17 18666073 18666073 single base substitution G A intron_variant MELA-AU 17 18666650 18666650 single base substitution T C intron_variant MELA-AU 17 18667090 18667090 single base substitution G A intron_variant MELA-AU 17 18667501 18667501 single base substitution G A intron_variant MELA-AU 17 18667748 18667748 single base substitution C T intron_variant MELA-AU 17 18668021 18668021 single base substitution G A intron_variant MELA-AU 17 18668021 18668021 single base substitution G A upstream_gene_variant MELA-AU 17 18668062 18668062 single base substitution G A 3_prime_UTR_variant MELA-AU 17 18668062 18668062 single base substitution G A missense_variant D481N 1441G>A MELA-AU 17 18668062 18668062 single base substitution G A missense_variant D510N 1528G>A MELA-AU 17 18668062 18668062 single base substitution G A upstream_gene_variant MELA-AU 17 18668269 18668269 single base substitution G C intron_variant MELA-AU 17 18668269 18668269 single base substitution G C upstream_gene_variant MELA-AU 17 18668358 18668358 single base substitution G A intron_variant MELA-AU 17 18668358 18668358 single base substitution G A upstream_gene_variant MELA-AU 17 18668745 18668745 single base substitution C T intron_variant MELA-AU 17 18668745 18668745 single base substitution C T upstream_gene_variant MELA-AU 17 18668991 18668991 single base substitution G A intron_variant MELA-AU 17 18668991 18668991 single base substitution G A upstream_gene_variant MELA-AU 17 18669288 18669288 single base substitution C T intron_variant MELA-AU 17 18669288 18669288 single base substitution C T upstream_gene_variant MELA-AU 17 18669336 18669336 single base substitution G A intron_variant MELA-AU 17 18669336 18669336 single base substitution G A upstream_gene_variant MELA-AU 17 18669586 18669586 single base substitution G A intron_variant MELA-AU 17 18669586 18669586 single base substitution G A upstream_gene_variant MELA-AU 17 18670030 18670030 single base substitution G A 3_prime_UTR_variant MELA-AU 17 18670030 18670030 single base substitution G A stop_gained W520* 1559G>A MELA-AU 17 18670030 18670030 single base substitution G A stop_gained W549* 1646G>A MELA-AU 17 18670030 18670030 single base substitution G A upstream_gene_variant MELA-AU 17 18670310 18670311 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 17 18670310 18670311 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 17 18670312 18670312 single base substitution G A intron_variant MELA-AU 17 18670312 18670312 single base substitution G A upstream_gene_variant MELA-AU 17 18670394 18670394 single base substitution T C intron_variant MELA-AU 17 18670394 18670394 single base substitution T C upstream_gene_variant MELA-AU 17 18670533 18670533 single base substitution C T intron_variant MELA-AU 17 18670533 18670533 single base substitution C T upstream_gene_variant MELA-AU 17 18670701 18670701 single base substitution G A intron_variant MELA-AU 17 18670701 18670701 single base substitution G A upstream_gene_variant MELA-AU 17 18671471 18671472 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 18671471 18671472 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 18671578 18671578 single base substitution A C intron_variant MELA-AU 17 18671578 18671578 single base substitution A C upstream_gene_variant MELA-AU 17 18672220 18672220 single base substitution G A intron_variant MELA-AU 17 18672220 18672220 single base substitution G A upstream_gene_variant MELA-AU 17 18672337 18672337 single base substitution C T intron_variant MELA-AU 17 18672337 18672337 single base substitution C T upstream_gene_variant MELA-AU 17 18672345 18672345 single base substitution T C intron_variant MELA-AU 17 18672345 18672345 single base substitution T C upstream_gene_variant MELA-AU 17 18672484 18672484 single base substitution A C intron_variant MELA-AU 17 18672484 18672484 single base substitution A C upstream_gene_variant MELA-AU 17 18672517 18672517 single base substitution G T intron_variant MELA-AU 17 18672517 18672517 single base substitution G T upstream_gene_variant MELA-AU 17 18672749 18672749 single base substitution G A intron_variant MELA-AU 17 18672749 18672749 single base substitution G A upstream_gene_variant MELA-AU 17 18673325 18673325 single base substitution G A 3_prime_UTR_variant MELA-AU 17 18673325 18673325 single base substitution G A exon_variant MELA-AU 17 18673325 18673325 single base substitution G A intron_variant MELA-AU 17 18673325 18673325 single base substitution G A missense_variant G645R 1933G>A MELA-AU 17 18673325 18673325 single base substitution G A missense_variant G674R 2020G>A MELA-AU 17 18673378 18673378 single base substitution C T 3_prime_UTR_variant MELA-AU 17 18673378 18673378 single base substitution C T intron_variant MELA-AU 17 18673378 18673378 single base substitution C T synonymous_variant S662S 1986C>T MELA-AU 17 18673378 18673378 single base substitution C T synonymous_variant S691S 2073C>T MELA-AU 17 18673595 18673595 single base substitution G A intron_variant MELA-AU 17 18673761 18673761 single base substitution G A intron_variant MELA-AU 17 18673859 18673859 single base substitution C T intron_variant MELA-AU 17 18674254 18674254 single base substitution G A intron_variant MELA-AU 17 18674515 18674515 single base substitution G A intron_variant MELA-AU 17 18674975 18674975 single base substitution C G intron_variant MELA-AU 17 18675394 18675394 single base substitution C T intron_variant MELA-AU 17 18675483 18675483 single base substitution A G intron_variant MELA-AU 17 18675822 18675822 single base substitution G A 3_prime_UTR_variant MELA-AU 17 18675822 18675822 single base substitution G A exon_variant MELA-AU 17 18675822 18675822 single base substitution G A missense_variant E649K 1945G>A MELA-AU 17 18675822 18675822 single base substitution G A missense_variant E702K 2104G>A MELA-AU 17 18675822 18675822 single base substitution G A missense_variant E731K 2191G>A MELA-AU 17 18675904 18675904 single base substitution C T 3_prime_UTR_variant MELA-AU 17 18675904 18675904 single base substitution C T exon_variant MELA-AU 17 18675904 18675904 single base substitution C T missense_variant S676F 2027C>T MELA-AU 17 18675904 18675904 single base substitution C T missense_variant S729F 2186C>T MELA-AU 17 18675904 18675904 single base substitution C T missense_variant S758F 2273C>T MELA-AU 17 18676848 18676848 single base substitution A G downstream_gene_variant MELA-AU 17 18676848 18676848 single base substitution A G intron_variant MELA-AU 17 18677189 18677189 single base substitution G C downstream_gene_variant MELA-AU 17 18677189 18677189 single base substitution G C intron_variant MELA-AU 17 18677277 18677277 single base substitution A G downstream_gene_variant MELA-AU 17 18677277 18677277 single base substitution A G intron_variant MELA-AU 17 18677400 18677400 single base substitution T G downstream_gene_variant MELA-AU 17 18677400 18677400 single base substitution T G intron_variant MELA-AU 17 18677438 18677438 single base substitution G A downstream_gene_variant MELA-AU 17 18677438 18677438 single base substitution G A intron_variant MELA-AU 17 18677760 18677760 single base substitution G A downstream_gene_variant MELA-AU 17 18677760 18677760 single base substitution G A intron_variant MELA-AU 17 18677967 18677967 single base substitution G A downstream_gene_variant MELA-AU 17 18677967 18677967 single base substitution G A intron_variant MELA-AU 17 18678006 18678006 single base substitution G A downstream_gene_variant MELA-AU 17 18678006 18678006 single base substitution G A intron_variant MELA-AU 17 18678483 18678484 multiple base substitution (>=2bp and <=200bp) GT AA 3_prime_UTR_variant MELA-AU 17 18678483 18678484 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 17 18678483 18678484 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 17 18678483 18678484 multiple base substitution (>=2bp and <=200bp) GT AA missense_variant KS718KT MELA-AU 17 18678483 18678484 multiple base substitution (>=2bp and <=200bp) GT AA missense_variant KS771KT MELA-AU 17 18678562 18678562 single base substitution G A downstream_gene_variant MELA-AU 17 18678562 18678562 single base substitution G A intron_variant MELA-AU 17 18679103 18679103 single base substitution G A downstream_gene_variant MELA-AU 17 18679103 18679103 single base substitution G A intron_variant MELA-AU 17 18679360 18679360 single base substitution G C downstream_gene_variant MELA-AU 17 18679360 18679360 single base substitution G C intron_variant MELA-AU 17 18679801 18679801 single base substitution G A downstream_gene_variant MELA-AU 17 18679801 18679801 single base substitution G A intron_variant MELA-AU 17 18680482 18680482 single base substitution C T downstream_gene_variant MELA-AU 17 18680482 18680482 single base substitution C T intron_variant MELA-AU 17 18680982 18680982 single base substitution G A intron_variant MELA-AU 17 18681948 18681948 single base substitution C G intron_variant MELA-AU 17 18681948 18681948 single base substitution C G synonymous_variant A779A 2337C>G MELA-AU 17 18681948 18681948 single base substitution C G synonymous_variant A831A 2493C>G MELA-AU 17 18681948 18681948 single base substitution C G synonymous_variant A832A 2496C>G MELA-AU 17 18681948 18681948 single base substitution C G synonymous_variant A841A 2523C>G MELA-AU 17 18682419 18682419 single base substitution C T 3_prime_UTR_variant MELA-AU 17 18682419 18682419 single base substitution C T synonymous_variant T936T 2808C>T MELA-AU 17 18682419 18682419 single base substitution C T synonymous_variant T988T 2964C>T MELA-AU 17 18682419 18682419 single base substitution C T synonymous_variant T989T 2967C>T MELA-AU 17 18682419 18682419 single base substitution C T synonymous_variant T998T 2994C>T MELA-AU 17 18682459 18682459 single base substitution G A 3_prime_UTR_variant MELA-AU 17 18682459 18682459 single base substitution G A missense_variant E1002K 3004G>A MELA-AU 17 18682459 18682459 single base substitution G A missense_variant E1003K 3007G>A MELA-AU 17 18682459 18682459 single base substitution G A missense_variant E1012K 3034G>A MELA-AU 17 18682459 18682459 single base substitution G A missense_variant E950K 2848G>A MELA-AU 17 18682579 18682579 single base substitution G A 3_prime_UTR_variant MELA-AU 17 18682579 18682579 single base substitution G A missense_variant A1042T 3124G>A MELA-AU 17 18682579 18682579 single base substitution G A missense_variant A1043T 3127G>A MELA-AU 17 18682579 18682579 single base substitution G A missense_variant A1052T 3154G>A MELA-AU 17 18682579 18682579 single base substitution G A missense_variant A990T 2968G>A MELA-AU 17 18683069 18683069 single base substitution C A downstream_gene_variant MELA-AU 17 18684442 18684442 single base substitution C T downstream_gene_variant MELA-AU 17 18684450 18684450 single base substitution C T downstream_gene_variant MELA-AU 17 18685716 18685716 single base substitution G A downstream_gene_variant MELA-AU 17 18686689 18686689 single base substitution G A downstream_gene_variant ORCA-IN 17 18660897 18660897 single base substitution T C intron_variant ORCA-IN 17 18677910 18677910 single base substitution C A downstream_gene_variant ORCA-IN 17 18677910 18677910 single base substitution C A intron_variant ORCA-IN 17 18678287 18678287 single base substitution G A downstream_gene_variant ORCA-IN 17 18678287 18678287 single base substitution G A intron_variant OV-AU 17 18648152 18648152 single base substitution A T 3_prime_UTR_variant OV-AU 17 18648152 18648152 single base substitution A T intron_variant OV-AU 17 18649117 18649117 single base substitution G C intron_variant OV-AU 17 18663137 18663137 single base substitution C T intron_variant OV-AU 17 18670602 18670602 single base substitution A T intron_variant OV-AU 17 18670602 18670602 single base substitution A T upstream_gene_variant OV-AU 17 18671442 18671442 single base substitution G A intron_variant OV-AU 17 18671442 18671442 single base substitution G A upstream_gene_variant OV-AU 17 18672887 18672887 single base substitution C A exon_variant OV-AU 17 18672887 18672887 single base substitution C A intron_variant OV-AU 17 18674418 18674418 single base substitution T A intron_variant OV-AU 17 18675192 18675192 single base substitution T G intron_variant OV-AU 17 18675419 18675419 single base substitution C G intron_variant OV-AU 17 18675671 18675671 single base substitution C G intron_variant OV-AU 17 18675734 18675734 single base substitution C T 3_prime_UTR_variant OV-AU 17 18675734 18675734 single base substitution C T exon_variant OV-AU 17 18675734 18675734 single base substitution C T synonymous_variant V619V 1857C>T OV-AU 17 18675734 18675734 single base substitution C T synonymous_variant V672V 2016C>T OV-AU 17 18675734 18675734 single base substitution C T synonymous_variant V701V 2103C>T OV-AU 17 18675753 18675753 single base substitution C G 3_prime_UTR_variant OV-AU 17 18675753 18675753 single base substitution C G exon_variant OV-AU 17 18675753 18675753 single base substitution C G missense_variant L626V 1876C>G OV-AU 17 18675753 18675753 single base substitution C G missense_variant L679V 2035C>G OV-AU 17 18675753 18675753 single base substitution C G missense_variant L708V 2122C>G OV-AU 17 18675904 18675904 single base substitution C G 3_prime_UTR_variant OV-AU 17 18675904 18675904 single base substitution C G exon_variant OV-AU 17 18675904 18675904 single base substitution C G missense_variant S676C 2027C>G OV-AU 17 18675904 18675904 single base substitution C G missense_variant S729C 2186C>G OV-AU 17 18675904 18675904 single base substitution C G missense_variant S758C 2273C>G OV-AU 17 18675994 18675994 single base substitution C T downstream_gene_variant OV-AU 17 18675994 18675994 single base substitution C T missense_variant S706L 2117C>T OV-AU 17 18675994 18675994 single base substitution C T missense_variant S759L 2276C>T OV-AU 17 18675994 18675994 single base substitution C T missense_variant S788L 2363C>T OV-AU 17 18675994 18675994 single base substitution C T splice_region_variant OV-AU 17 18676659 18676659 single base substitution C G downstream_gene_variant OV-AU 17 18676659 18676659 single base substitution C G intron_variant OV-AU 17 18676687 18676687 single base substitution C G downstream_gene_variant OV-AU 17 18676687 18676687 single base substitution C G intron_variant OV-AU 17 18680838 18680838 single base substitution G C downstream_gene_variant OV-AU 17 18680838 18680838 single base substitution G C intron_variant OV-AU 17 18681763 18681763 single base substitution T A intron_variant OV-US 17 18654366 18654366 single base substitution G C missense_variant K374N 1122G>C OV-US 17 18654366 18654366 single base substitution G C missense_variant K403N 1209G>C OV-US 17 18654366 18654366 single base substitution G C splice_region_variant PACA-AU 17 18645089 18645089 single base substitution G T upstream_gene_variant PACA-AU 17 18646555 18646555 single base substitution C A upstream_gene_variant PACA-AU 17 18654348 18654348 single base substitution G T 3_prime_UTR_variant PACA-AU 17 18654348 18654348 single base substitution G T missense_variant K368N 1104G>T PACA-AU 17 18654348 18654348 single base substitution G T missense_variant K397N 1191G>T PACA-AU 17 18654478 18654478 single base substitution T G intron_variant PACA-AU 17 18662352 18662352 single base substitution G A intron_variant PACA-AU 17 18665756 18665756 single base substitution G A intron_variant PACA-AU 17 18671331 18671331 single base substitution C T intron_variant PACA-AU 17 18671331 18671331 single base substitution C T upstream_gene_variant PACA-AU 17 18671752 18671752 deletion of <=200bp G - intron_variant PACA-AU 17 18671752 18671752 deletion of <=200bp G - upstream_gene_variant PACA-AU 17 18672828 18672828 single base substitution G A exon_variant PACA-AU 17 18672828 18672828 single base substitution G A intron_variant PACA-AU 17 18673213 18673213 single base substitution A G intron_variant PACA-AU 17 18679338 18679338 insertion of <=200bp - AG downstream_gene_variant PACA-AU 17 18679338 18679338 insertion of <=200bp - AG intron_variant PACA-AU 17 18679392 18679392 single base substitution G T downstream_gene_variant PACA-AU 17 18679392 18679392 single base substitution G T intron_variant PACA-AU 17 18683327 18683327 single base substitution C T downstream_gene_variant PACA-AU 17 18684591 18684591 single base substitution C T downstream_gene_variant PACA-AU 17 18684926 18684926 single base substitution G C downstream_gene_variant PACA-AU 17 18686747 18686747 single base substitution G T downstream_gene_variant PACA-CA 17 18642481 18642481 single base substitution T C upstream_gene_variant PACA-CA 17 18642691 18642691 single base substitution A G upstream_gene_variant PACA-CA 17 18645385 18645385 single base substitution T C upstream_gene_variant PACA-CA 17 18655934 18655934 single base substitution G C intron_variant PACA-CA 17 18658846 18658846 single base substitution C T intron_variant PACA-CA 17 18660502 18660502 single base substitution G A intron_variant PACA-CA 17 18663578 18663578 single base substitution G T intron_variant PACA-CA 17 18664158 18664158 single base substitution T C intron_variant PACA-CA 17 18665168 18665168 single base substitution T C intron_variant PACA-CA 17 18665995 18665995 single base substitution C A intron_variant PACA-CA 17 18668225 18668225 single base substitution G A intron_variant PACA-CA 17 18668225 18668225 single base substitution G A upstream_gene_variant PACA-CA 17 18669834 18669853 deletion of <=200bp GTGCTGTGGGCACATGAGCG - intron_variant PACA-CA 17 18669834 18669853 deletion of <=200bp GTGCTGTGGGCACATGAGCG - upstream_gene_variant PACA-CA 17 18672863 18672863 single base substitution G C exon_variant PACA-CA 17 18672863 18672863 single base substitution G C intron_variant PACA-CA 17 18678920 18678920 single base substitution G T downstream_gene_variant PACA-CA 17 18678920 18678920 single base substitution G T intron_variant PACA-CA 17 18680875 18680875 single base substitution G T downstream_gene_variant PACA-CA 17 18680875 18680875 single base substitution G T intron_variant PACA-CA 17 18683654 18683654 single base substitution G T downstream_gene_variant PACA-CA 17 18683863 18683863 single base substitution G A downstream_gene_variant PAEN-AU 17 18663137 18663137 single base substitution C T intron_variant PAEN-AU 17 18679219 18679219 single base substitution T A downstream_gene_variant PAEN-AU 17 18679219 18679219 single base substitution T A intron_variant PAEN-IT 17 18687327 18687327 single base substitution G T downstream_gene_variant PBCA-DE 17 18657190 18657190 deletion of <=200bp A - intron_variant PBCA-DE 17 18661954 18661954 insertion of <=200bp - TTATT intron_variant PBCA-DE 17 18662141 18662141 insertion of <=200bp - T intron_variant PBCA-DE 17 18662790 18662790 insertion of <=200bp - TA intron_variant PBCA-DE 17 18671327 18671327 single base substitution C T intron_variant PBCA-DE 17 18671327 18671327 single base substitution C T upstream_gene_variant PBCA-DE 17 18671364 18671364 single base substitution C T intron_variant PBCA-DE 17 18671364 18671364 single base substitution C T upstream_gene_variant PBCA-DE 17 18679406 18679406 single base substitution C T downstream_gene_variant PBCA-DE 17 18679406 18679406 single base substitution C T intron_variant PRAD-CA 17 18645762 18645762 single base substitution A G upstream_gene_variant PRAD-CA 17 18660410 18660410 single base substitution C T intron_variant PRAD-CA 17 18660653 18660653 single base substitution T C intron_variant PRAD-CA 17 18671339 18671339 single base substitution T C intron_variant PRAD-CA 17 18671339 18671339 single base substitution T C upstream_gene_variant PRAD-CA 17 18671364 18671364 single base substitution C T intron_variant PRAD-CA 17 18671364 18671364 single base substitution C T upstream_gene_variant PRAD-UK 17 18642682 18642682 insertion of <=200bp - G upstream_gene_variant PRAD-UK 17 18651694 18651694 single base substitution A T intron_variant PRAD-UK 17 18672614 18672614 single base substitution C T intron_variant PRAD-UK 17 18672614 18672614 single base substitution C T upstream_gene_variant PRAD-UK 17 18683945 18683945 single base substitution C A downstream_gene_variant PRAD-UK 17 18687287 18687287 single base substitution G T downstream_gene_variant PRAD-US 17 18651268 18651268 single base substitution A T 3_prime_UTR_variant PRAD-US 17 18651268 18651268 single base substitution A T missense_variant I174F 520A>T READ-US 17 18673283 18673283 single base substitution G C 3_prime_UTR_variant READ-US 17 18673283 18673283 single base substitution G C exon_variant READ-US 17 18673283 18673283 single base substitution G C intron_variant READ-US 17 18673283 18673283 single base substitution G C missense_variant A631P 1891G>C READ-US 17 18673283 18673283 single base substitution G C missense_variant A660P 1978G>C RECA-EU 17 18674393 18674393 single base substitution A G intron_variant RECA-EU 17 18680615 18680615 single base substitution G T downstream_gene_variant RECA-EU 17 18680615 18680615 single base substitution G T intron_variant SKCA-BR 17 18644364 18644364 single base substitution G A upstream_gene_variant SKCA-BR 17 18645299 18645299 single base substitution C T upstream_gene_variant SKCA-BR 17 18647319 18647319 single base substitution G A upstream_gene_variant SKCA-BR 17 18647651 18647651 single base substitution T G exon_variant SKCA-BR 17 18647651 18647651 single base substitution T G missense_variant C32G 94T>G SKCA-BR 17 18647834 18647834 single base substitution A G exon_variant SKCA-BR 17 18647834 18647834 single base substitution A G missense_variant N93D 277A>G SKCA-BR 17 18651288 18651288 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 18651288 18651288 single base substitution C T synonymous_variant S180S 540C>T SKCA-BR 17 18652201 18652201 single base substitution C T intron_variant SKCA-BR 17 18652243 18652243 single base substitution G A intron_variant SKCA-BR 17 18652648 18652648 single base substitution G A intron_variant SKCA-BR 17 18652687 18652689 deletion of <=200bp TAA - intron_variant SKCA-BR 17 18653850 18653850 single base substitution G A intron_variant SKCA-BR 17 18657959 18657959 single base substitution A G intron_variant SKCA-BR 17 18659348 18659348 single base substitution C T intron_variant SKCA-BR 17 18660342 18660342 single base substitution G A intron_variant SKCA-BR 17 18660416 18660416 single base substitution T C intron_variant SKCA-BR 17 18660501 18660501 single base substitution T C intron_variant SKCA-BR 17 18660502 18660502 single base substitution G A intron_variant SKCA-BR 17 18661001 18661001 insertion of <=200bp - CT intron_variant SKCA-BR 17 18661778 18661778 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 18661778 18661778 single base substitution G A missense_variant E465K 1393G>A SKCA-BR 17 18661778 18661778 single base substitution G A missense_variant E494K 1480G>A SKCA-BR 17 18661823 18661823 single base substitution G A splice_region_variant SKCA-BR 17 18661953 18661953 insertion of <=200bp - CTTATT intron_variant SKCA-BR 17 18663103 18663103 single base substitution A T intron_variant SKCA-BR 17 18663786 18663786 single base substitution G T intron_variant SKCA-BR 17 18664092 18664092 insertion of <=200bp - CA intron_variant SKCA-BR 17 18664343 18664343 single base substitution C T intron_variant SKCA-BR 17 18664497 18664497 single base substitution G A intron_variant SKCA-BR 17 18666493 18666493 single base substitution A G intron_variant SKCA-BR 17 18667291 18667291 single base substitution G A intron_variant SKCA-BR 17 18668698 18668698 single base substitution A T intron_variant SKCA-BR 17 18668698 18668698 single base substitution A T upstream_gene_variant SKCA-BR 17 18669616 18669616 single base substitution G A intron_variant SKCA-BR 17 18669616 18669616 single base substitution G A upstream_gene_variant SKCA-BR 17 18671339 18671339 insertion of <=200bp - TCTTCCTTCCTTCCTTC intron_variant SKCA-BR 17 18671339 18671339 insertion of <=200bp - TCTTCCTTCCTTCCTTC upstream_gene_variant SKCA-BR 17 18671971 18671971 single base substitution T G 3_prime_UTR_variant SKCA-BR 17 18671971 18671971 single base substitution T G missense_variant M610R 1829T>G SKCA-BR 17 18671971 18671971 single base substitution T G missense_variant M639R 1916T>G SKCA-BR 17 18671971 18671971 single base substitution T G upstream_gene_variant SKCA-BR 17 18672151 18672151 single base substitution C T intron_variant SKCA-BR 17 18672151 18672151 single base substitution C T upstream_gene_variant SKCA-BR 17 18672152 18672152 single base substitution C T intron_variant SKCA-BR 17 18672152 18672152 single base substitution C T upstream_gene_variant SKCA-BR 17 18672882 18672882 single base substitution G A exon_variant SKCA-BR 17 18672882 18672882 single base substitution G A intron_variant SKCA-BR 17 18673845 18673845 single base substitution G A intron_variant SKCA-BR 17 18673949 18673949 single base substitution G A intron_variant SKCA-BR 17 18674396 18674396 single base substitution G A intron_variant SKCA-BR 17 18674436 18674436 single base substitution C A intron_variant SKCA-BR 17 18675196 18675196 single base substitution T G intron_variant SKCA-BR 17 18677280 18677280 single base substitution G A downstream_gene_variant SKCA-BR 17 18677280 18677280 single base substitution G A intron_variant SKCA-BR 17 18677388 18677388 single base substitution T C downstream_gene_variant SKCA-BR 17 18677388 18677388 single base substitution T C intron_variant SKCA-BR 17 18680375 18680375 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 17 18680375 18680375 insertion of <=200bp - GT intron_variant SKCA-BR 17 18681051 18681051 single base substitution T G intron_variant SKCA-BR 17 18681338 18681338 single base substitution T G intron_variant SKCA-BR 17 18681350 18681350 single base substitution T G intron_variant SKCA-BR 17 18682066 18682066 single base substitution T C intron_variant SKCA-BR 17 18682066 18682066 single base substitution T C synonymous_variant L819L 2455T>C SKCA-BR 17 18682066 18682066 single base substitution T C synonymous_variant L871L 2611T>C SKCA-BR 17 18682066 18682066 single base substitution T C synonymous_variant L872L 2614T>C SKCA-BR 17 18682066 18682066 single base substitution T C synonymous_variant L881L 2641T>C SKCA-BR 17 18682399 18682399 single base substitution A G 3_prime_UTR_variant SKCA-BR 17 18682399 18682399 single base substitution A G missense_variant T930A 2788A>G SKCA-BR 17 18682399 18682399 single base substitution A G missense_variant T982A 2944A>G SKCA-BR 17 18682399 18682399 single base substitution A G missense_variant T983A 2947A>G SKCA-BR 17 18682399 18682399 single base substitution A G missense_variant T992A 2974A>G SKCA-BR 17 18686413 18686413 single base substitution G T downstream_gene_variant SKCM-US 17 18647600 18647600 single base substitution C T exon_variant SKCM-US 17 18647600 18647600 single base substitution C T missense_variant R15C 43C>T SKCM-US 17 18648044 18648044 single base substitution G A exon_variant SKCM-US 17 18648044 18648044 single base substitution G A missense_variant E163K 487G>A SKCM-US 17 18651287 18651287 single base substitution C T 3_prime_UTR_variant SKCM-US 17 18651287 18651287 single base substitution C T missense_variant S180F 539C>T SKCM-US 17 18653121 18653121 single base substitution G A 3_prime_UTR_variant SKCM-US 17 18653121 18653121 single base substitution G A missense_variant D253N 757G>A SKCM-US 17 18653309 18653309 insertion of <=200bp - T frameshift_variant I315I? SKCM-US 17 18653309 18653309 insertion of <=200bp - T intron_variant SKCM-US 17 18654336 18654336 single base substitution G A 3_prime_UTR_variant SKCM-US 17 18654336 18654336 single base substitution G A synonymous_variant V364V 1092G>A SKCM-US 17 18654336 18654336 single base substitution G A synonymous_variant V393V 1179G>A SKCM-US 17 18659368 18659368 single base substitution A G 3_prime_UTR_variant SKCM-US 17 18659368 18659368 single base substitution A G missense_variant N378S 1133A>G SKCM-US 17 18659368 18659368 single base substitution A G missense_variant N407S 1220A>G SKCM-US 17 18661787 18661787 single base substitution C T 3_prime_UTR_variant SKCM-US 17 18661787 18661787 single base substitution C T missense_variant L468F 1402C>T SKCM-US 17 18661787 18661787 single base substitution C T missense_variant L497F 1489C>T SKCM-US 17 18668087 18668087 single base substitution G A 3_prime_UTR_variant SKCM-US 17 18668087 18668087 single base substitution G A missense_variant R489Q 1466G>A SKCM-US 17 18668087 18668087 single base substitution G A missense_variant R518Q 1553G>A SKCM-US 17 18668087 18668087 single base substitution G A upstream_gene_variant SKCM-US 17 18668094 18668094 single base substitution C T 3_prime_UTR_variant SKCM-US 17 18668094 18668094 single base substitution C T synonymous_variant F491F 1473C>T SKCM-US 17 18668094 18668094 single base substitution C T synonymous_variant F520F 1560C>T SKCM-US 17 18668094 18668094 single base substitution C T upstream_gene_variant SKCM-US 17 18668108 18668108 single base substitution G A 3_prime_UTR_variant SKCM-US 17 18668108 18668108 single base substitution G A missense_variant G496E 1487G>A SKCM-US 17 18668108 18668108 single base substitution G A missense_variant G525E 1574G>A SKCM-US 17 18668108 18668108 single base substitution G A upstream_gene_variant SKCM-US 17 18668146 18668146 single base substitution G T 3_prime_UTR_variant SKCM-US 17 18668146 18668146 single base substitution G T missense_variant V509L 1525G>T SKCM-US 17 18668146 18668146 single base substitution G T missense_variant V538L 1612G>T SKCM-US 17 18668146 18668146 single base substitution G T upstream_gene_variant SKCM-US 17 18671873 18671873 single base substitution G A 3_prime_UTR_variant SKCM-US 17 18671873 18671873 single base substitution G A synonymous_variant V577V 1731G>A SKCM-US 17 18671873 18671873 single base substitution G A synonymous_variant V606V 1818G>A SKCM-US 17 18671873 18671873 single base substitution G A upstream_gene_variant SKCM-US 17 18671950 18671950 single base substitution G A 3_prime_UTR_variant SKCM-US 17 18671950 18671950 single base substitution G A missense_variant G603E 1808G>A SKCM-US 17 18671950 18671950 single base substitution G A missense_variant G632E 1895G>A SKCM-US 17 18671950 18671950 single base substitution G A upstream_gene_variant SKCM-US 17 18673257 18673257 single base substitution C T 3_prime_UTR_variant SKCM-US 17 18673257 18673257 single base substitution C T exon_variant SKCM-US 17 18673257 18673257 single base substitution C T intron_variant SKCM-US 17 18673257 18673257 single base substitution C T missense_variant S622F 1865C>T SKCM-US 17 18673257 18673257 single base substitution C T missense_variant S651F 1952C>T SKCM-US 17 18673314 18673314 single base substitution A T 3_prime_UTR_variant SKCM-US 17 18673314 18673314 single base substitution A T exon_variant SKCM-US 17 18673314 18673314 single base substitution A T intron_variant SKCM-US 17 18673314 18673314 single base substitution A T missense_variant N641I 1922A>T SKCM-US 17 18673314 18673314 single base substitution A T missense_variant N670I 2009A>T SKCM-US 17 18675803 18675803 single base substitution G A 3_prime_UTR_variant SKCM-US 17 18675803 18675803 single base substitution G A exon_variant SKCM-US 17 18675803 18675803 single base substitution G A synonymous_variant T642T 1926G>A SKCM-US 17 18675803 18675803 single base substitution G A synonymous_variant T695T 2085G>A SKCM-US 17 18675803 18675803 single base substitution G A synonymous_variant T724T 2172G>A SKCM-US 17 18675954 18675954 single base substitution C T 3_prime_UTR_variant SKCM-US 17 18675954 18675954 single base substitution C T downstream_gene_variant SKCM-US 17 18675954 18675954 single base substitution C T missense_variant P693S 2077C>T SKCM-US 17 18675954 18675954 single base substitution C T missense_variant P746S 2236C>T SKCM-US 17 18675954 18675954 single base substitution C T missense_variant P775S 2323C>T SKCM-US 17 18682422 18682422 single base substitution G A 3_prime_UTR_variant SKCM-US 17 18682422 18682422 single base substitution G A synonymous_variant V937V 2811G>A SKCM-US 17 18682422 18682422 single base substitution G A synonymous_variant V989V 2967G>A SKCM-US 17 18682422 18682422 single base substitution G A synonymous_variant V990V 2970G>A SKCM-US 17 18682422 18682422 single base substitution G A synonymous_variant V999V 2997G>A SKCM-US 17 18682444 18682444 single base substitution G A 3_prime_UTR_variant SKCM-US 17 18682444 18682444 single base substitution G A missense_variant E1007K 3019G>A SKCM-US 17 18682444 18682444 single base substitution G A missense_variant E945K 2833G>A SKCM-US 17 18682444 18682444 single base substitution G A missense_variant E997K 2989G>A SKCM-US 17 18682444 18682444 single base substitution G A missense_variant E998K 2992G>A SKCM-US 17 18682579 18682579 single base substitution G A 3_prime_UTR_variant SKCM-US 17 18682579 18682579 single base substitution G A missense_variant A1042T 3124G>A SKCM-US 17 18682579 18682579 single base substitution G A missense_variant A1043T 3127G>A SKCM-US 17 18682579 18682579 single base substitution G A missense_variant A1052T 3154G>A SKCM-US 17 18682579 18682579 single base substitution G A missense_variant A990T 2968G>A STAD-US 17 18647574 18647574 single base substitution C T exon_variant STAD-US 17 18647574 18647574 single base substitution C T missense_variant S6L 17C>T STAD-US 17 18651270 18651270 single base substitution C T 3_prime_UTR_variant STAD-US 17 18651270 18651270 single base substitution C T synonymous_variant I174I 522C>T STAD-US 17 18653227 18653227 single base substitution A G 3_prime_UTR_variant STAD-US 17 18653227 18653227 single base substitution A G missense_variant Y288C 863A>G STAD-US 17 18668087 18668087 single base substitution G A 3_prime_UTR_variant STAD-US 17 18668087 18668087 single base substitution G A missense_variant R489Q 1466G>A STAD-US 17 18668087 18668087 single base substitution G A missense_variant R518Q 1553G>A STAD-US 17 18668087 18668087 single base substitution G A upstream_gene_variant STAD-US 17 18673283 18673283 single base substitution G A 3_prime_UTR_variant STAD-US 17 18673283 18673283 single base substitution G A exon_variant STAD-US 17 18673283 18673283 single base substitution G A intron_variant STAD-US 17 18673283 18673283 single base substitution G A missense_variant A631T 1891G>A STAD-US 17 18673283 18673283 single base substitution G A missense_variant A660T 1978G>A STAD-US 17 18673378 18673378 single base substitution C T 3_prime_UTR_variant STAD-US 17 18673378 18673378 single base substitution C T intron_variant STAD-US 17 18673378 18673378 single base substitution C T synonymous_variant S662S 1986C>T STAD-US 17 18673378 18673378 single base substitution C T synonymous_variant S691S 2073C>T STAD-US 17 18675757 18675757 single base substitution T C 3_prime_UTR_variant STAD-US 17 18675757 18675757 single base substitution T C exon_variant STAD-US 17 18675757 18675757 single base substitution T C missense_variant M627T 1880T>C STAD-US 17 18675757 18675757 single base substitution T C missense_variant M680T 2039T>C STAD-US 17 18675757 18675757 single base substitution T C missense_variant M709T 2126T>C STAD-US 17 18675802 18675802 single base substitution C T 3_prime_UTR_variant STAD-US 17 18675802 18675802 single base substitution C T exon_variant STAD-US 17 18675802 18675802 single base substitution C T missense_variant T642M 1925C>T STAD-US 17 18675802 18675802 single base substitution C T missense_variant T695M 2084C>T STAD-US 17 18675802 18675802 single base substitution C T missense_variant T724M 2171C>T STAD-US 17 18681858 18681858 single base substitution G T intron_variant STAD-US 17 18681858 18681858 single base substitution G T missense_variant K749N 2247G>T STAD-US 17 18681858 18681858 single base substitution G T missense_variant K801N 2403G>T STAD-US 17 18681858 18681858 single base substitution G T missense_variant K802N 2406G>T STAD-US 17 18681858 18681858 single base substitution G T missense_variant K811N 2433G>T THCA-SA 17 18647834 18647834 single base substitution A G exon_variant THCA-SA 17 18647834 18647834 single base substitution A G missense_variant N93D 277A>G THCA-SA 17 18653145 18653145 single base substitution C G 3_prime_UTR_variant THCA-SA 17 18653145 18653145 single base substitution C G missense_variant L261V 781C>G THCA-SA 17 18682505 18682505 single base substitution T C 3_prime_UTR_variant THCA-SA 17 18682505 18682505 single base substitution T C missense_variant V1017A 3050T>C THCA-SA 17 18682505 18682505 single base substitution T C missense_variant V1018A 3053T>C THCA-SA 17 18682505 18682505 single base substitution T C missense_variant V1027A 3080T>C THCA-SA 17 18682505 18682505 single base substitution T C missense_variant V965A 2894T>C UCEC-US 17 18651252 18651252 single base substitution A G splice_acceptor_variant UCEC-US 17 18651298 18651298 single base substitution G A 3_prime_UTR_variant UCEC-US 17 18651298 18651298 single base substitution G A missense_variant D184N 550G>A UCEC-US 17 18651304 18651304 single base substitution A G 3_prime_UTR_variant UCEC-US 17 18651304 18651304 single base substitution A G missense_variant S186G 556A>G UCEC-US 17 18654272 18654272 single base substitution A C 3_prime_UTR_variant UCEC-US 17 18654272 18654272 single base substitution A C missense_variant N343T 1028A>C UCEC-US 17 18654272 18654272 single base substitution A C missense_variant N372T 1115A>C UCEC-US 17 18654313 18654313 single base substitution G C 3_prime_UTR_variant UCEC-US 17 18654313 18654313 single base substitution G C missense_variant D357H 1069G>C UCEC-US 17 18654313 18654313 single base substitution G C missense_variant D386H 1156G>C UCEC-US 17 18659377 18659377 single base substitution C T 3_prime_UTR_variant UCEC-US 17 18659377 18659377 single base substitution C T missense_variant T381I 1142C>T UCEC-US 17 18659377 18659377 single base substitution C T missense_variant T410I 1229C>T UCEC-US 17 18659390 18659390 single base substitution C T 3_prime_UTR_variant UCEC-US 17 18659390 18659390 single base substitution C T synonymous_variant N385N 1155C>T UCEC-US 17 18659390 18659390 single base substitution C T synonymous_variant N414N 1242C>T UCEC-US 17 18661636 18661636 single base substitution C T 3_prime_UTR_variant UCEC-US 17 18661636 18661636 single base substitution C T synonymous_variant V417V 1251C>T UCEC-US 17 18661636 18661636 single base substitution C T synonymous_variant V446V 1338C>T UCEC-US 17 18668134 18668134 single base substitution A G 3_prime_UTR_variant UCEC-US 17 18668134 18668134 single base substitution A G missense_variant K505E 1513A>G UCEC-US 17 18668134 18668134 single base substitution A G missense_variant K534E 1600A>G UCEC-US 17 18668134 18668134 single base substitution A G upstream_gene_variant UCEC-US 17 18670128 18670128 single base substitution C T 3_prime_UTR_variant UCEC-US 17 18670128 18670128 single base substitution C T stop_gained R553* 1657C>T UCEC-US 17 18670128 18670128 single base substitution C T stop_gained R582* 1744C>T UCEC-US 17 18670128 18670128 single base substitution C T upstream_gene_variant UCEC-US 17 18671957 18671957 single base substitution C T 3_prime_UTR_variant UCEC-US 17 18671957 18671957 single base substitution C T synonymous_variant Y605Y 1815C>T UCEC-US 17 18671957 18671957 single base substitution C T synonymous_variant Y634Y 1902C>T UCEC-US 17 18671957 18671957 single base substitution C T upstream_gene_variant UCEC-US 17 18673250 18673250 single base substitution G A 3_prime_UTR_variant UCEC-US 17 18673250 18673250 single base substitution G A exon_variant UCEC-US 17 18673250 18673250 single base substitution G A intron_variant UCEC-US 17 18673250 18673250 single base substitution G A missense_variant D620N 1858G>A UCEC-US 17 18673250 18673250 single base substitution G A missense_variant D649N 1945G>A UCEC-US 17 18673282 18673282 single base substitution C T 3_prime_UTR_variant UCEC-US 17 18673282 18673282 single base substitution C T exon_variant UCEC-US 17 18673282 18673282 single base substitution C T intron_variant UCEC-US 17 18673282 18673282 single base substitution C T synonymous_variant S630S 1890C>T UCEC-US 17 18673282 18673282 single base substitution C T synonymous_variant S659S 1977C>T UCEC-US 17 18673292 18673292 single base substitution G T 3_prime_UTR_variant UCEC-US 17 18673292 18673292 single base substitution G T exon_variant UCEC-US 17 18673292 18673292 single base substitution G T intron_variant UCEC-US 17 18673292 18673292 single base substitution G T missense_variant D634Y 1900G>T UCEC-US 17 18673292 18673292 single base substitution G T missense_variant D663Y 1987G>T UCEC-US 17 18675846 18675846 single base substitution A G 3_prime_UTR_variant UCEC-US 17 18675846 18675846 single base substitution A G exon_variant UCEC-US 17 18675846 18675846 single base substitution A G missense_variant N657D 1969A>G UCEC-US 17 18675846 18675846 single base substitution A G missense_variant N710D 2128A>G UCEC-US 17 18675846 18675846 single base substitution A G missense_variant N739D 2215A>G UCEC-US 17 18675854 18675854 single base substitution C A 3_prime_UTR_variant UCEC-US 17 18675854 18675854 single base substitution C A exon_variant UCEC-US 17 18675854 18675854 single base substitution C A synonymous_variant L659L 1977C>A UCEC-US 17 18675854 18675854 single base substitution C A synonymous_variant L712L 2136C>A UCEC-US 17 18675854 18675854 single base substitution C A synonymous_variant L741L 2223C>A UCEC-US 17 18675864 18675864 single base substitution C A 3_prime_UTR_variant UCEC-US 17 18675864 18675864 single base substitution C A exon_variant UCEC-US 17 18675864 18675864 single base substitution C A missense_variant L663I 1987C>A UCEC-US 17 18675864 18675864 single base substitution C A missense_variant L716I 2146C>A UCEC-US 17 18675864 18675864 single base substitution C A missense_variant L745I 2233C>A UCEC-US 17 18675894 18675894 single base substitution C A 3_prime_UTR_variant UCEC-US 17 18675894 18675894 single base substitution C A exon_variant UCEC-US 17 18675894 18675894 single base substitution C A missense_variant P673T 2017C>A UCEC-US 17 18675894 18675894 single base substitution C A missense_variant P726T 2176C>A UCEC-US 17 18675894 18675894 single base substitution C A missense_variant P755T 2263C>A UCEC-US 17 18675989 18675989 single base substitution C A 3_prime_UTR_variant UCEC-US 17 18675989 18675989 single base substitution C A downstream_gene_variant UCEC-US 17 18675989 18675989 single base substitution C A missense_variant F704L 2112C>A UCEC-US 17 18675989 18675989 single base substitution C A missense_variant F757L 2271C>A UCEC-US 17 18675989 18675989 single base substitution C A missense_variant F786L 2358C>A UCEC-US 17 18681918 18681918 single base substitution G A intron_variant UCEC-US 17 18681918 18681918 single base substitution G A synonymous_variant L769L 2307G>A UCEC-US 17 18681918 18681918 single base substitution G A synonymous_variant L821L 2463G>A UCEC-US 17 18681918 18681918 single base substitution G A synonymous_variant L822L 2466G>A UCEC-US 17 18681918 18681918 single base substitution G A synonymous_variant L831L 2493G>A UCEC-US 17 18682100 18682100 single base substitution G T intron_variant UCEC-US 17 18682100 18682100 single base substitution G T missense_variant S830I 2489G>T UCEC-US 17 18682100 18682100 single base substitution G T missense_variant S882I 2645G>T UCEC-US 17 18682100 18682100 single base substitution G T missense_variant S883I 2648G>T UCEC-US 17 18682100 18682100 single base substitution G T missense_variant S892I 2675G>T UCEC-US 17 18682407 18682407 single base substitution C T 3_prime_UTR_variant UCEC-US 17 18682407 18682407 single base substitution C T synonymous_variant F932F 2796C>T UCEC-US 17 18682407 18682407 single base substitution C T synonymous_variant F984F 2952C>T UCEC-US 17 18682407 18682407 single base substitution C T synonymous_variant F985F 2955C>T UCEC-US 17 18682407 18682407 single base substitution C T synonymous_variant F994F 2982C>T UCEC-US 17 18682560 18682560 single base substitution G A 3_prime_UTR_variant UCEC-US 17 18682560 18682560 single base substitution G A synonymous_variant T1035T 3105G>A UCEC-US 17 18682560 18682560 single base substitution G A synonymous_variant T1036T 3108G>A UCEC-US 17 18682560 18682560 single base substitution G A synonymous_variant T1045T 3135G>A UCEC-US 17 18682560 18682560 single base substitution G A synonymous_variant T983T 2949G>A

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.592128 17p12 611679

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I907V c.2719A>G 17 18682174 LUSC A G Missense p.K505E c.1513A>G 17 18668134 UCEC A G Missense p.K756R c.2267A>G 17 18675985 BRCA A G Missense p.N378S c.1133A>G 17 18659368 CM A G SpliceAcceptorSNV . c.506-2A>G 17 18651252 ESCA A G SpliceAcceptorSNV . c.506-2A>G 17 18651252 UCEC A T 5-UTRSNV . c.1-111A>T 17 18647447 CM A T Missense p.I174F c.520A>T 17 18651268 PRAD A T Missense p.I876L c.2626A>T 17 18682081 CM C A Missense p.P908T c.2722C>A 17 18682177 RCCC C A Missense p.Q909K c.2725C>A 17 18682180 LUAD C A Synonymous p.R749R c.2245C>A 17 18675963 STAD C G Missense p.Q787E c.2359C>G 17 18681814 BRCA C T 5-UTRSNV . c.1-51C>T 17 18647507 ESCA C T IntronicSNV . c.872-4C>T 17 18653319 STAD C T Missense p.A190V c.569C>T 17 18651317 GBM C T Missense p.L468F c.1402C>T 17 18661787 CM C T Missense p.L766F c.2296C>T 17 18678466 CM C T Missense p.P254L c.761C>T 17 18653125 CM C T Missense p.R15C c.43C>T 17 18647600 CM C T Missense p.S622F c.1865C>T 17 18673257 CM C T Missense p.S6L c.17C>T 17 18647574 STAD C T Missense p.T137I c.410C>T 17 18647967 LUSC C T Missense p.T381I c.1142C>T 17 18659377 UCEC C T Missense p.T674I c.2021C>T 17 18675739 LUAD C T Nonsense p.R489* c.1465C>T 17 18668086 LUSC C T Synonymous p.F642F c.1926C>T 17 18673318 CM C T Synonymous p.L240L c.718C>T 17 18653082 CM C T Synonymous p.N385N c.1155C>T 17 18659390 UCEC C T Synonymous p.S235S c.705C>T 17 18653069 COREAD C T Synonymous p.S622S c.1866C>T 17 18673258 CM GA - Frameshift p.K879Tfs*7 c.2634_2635delGA 17 18682089 LUAD G A Missense p.A1042T c.3124G>A 17 18682579 CM G A Missense p.D184N c.550G>A 17 18651298 UCEC G A Missense p.D253N c.757G>A 17 18653121 CM G A Missense p.E839K c.2515G>A 17 18681970 CM G A Missense p.E997K c.2989G>A 17 18682444 CM G A Missense p.G667D c.2000G>A 17 18673392 CM G A Missense p.R489Q c.1466G>A 17 18668087 CM G A SpliceDonorSNV . c.1232+1G>A 17 18659468 HNSC G A Synonymous p.G525G c.1575G>A 17 18670046 CM G A Synonymous p.L821L c.2463G>A 17 18681918 UCEC G A Synonymous p.T1035T c.3105G>A 17 18682560 UCEC G A Synonymous p.T695T c.2085G>A 17 18675803 CM G A Synonymous p.V364V c.1092G>A 17 18654336 CM G A Synonymous p.V577V c.1731G>A 17 18671873 CM G A Synonymous p.V989V c.2967G>A 17 18682422 CM G C Missense p.K374N c.1122G>C 17 18654366 OV G C Missense p.Q142H c.426G>C 17 18647983 LUSC G C Missense p.R532T c.1595G>C 17 18670066 BRCA G T Missense p.C579F c.1736G>T 17 18671878 CLL G T Missense p.G492C c.1474G>T 17 18668095 LUAD G T Missense p.G645W c.1933G>T 17 18673325 CM G T Missense p.G645W c.1933G>T 17 18673325 STAD G T Missense p.R916M c.2747G>T 17 18682202 LUAD G T Missense p.V509L c.1525G>T 17 18668146 CM T A Missense p.Y72N c.214T>A 17 18647771 ESCA T C IntronicSNV . c.872-5T>C 17 18653318 STAD T C Missense p.L258S c.773T>C 17 18653137 HNSC T C Missense p.M680T c.2039T>C 17 18675757 STAD T C Missense p.V1012A c.3035T>C 17 18682490 LUSC