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 ACC 14 24584856 24584856 + Missense_Mutation SNP A A T TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr14:24584856A>T c.53A>T c.(52-54)gAg>gTg p.E18V BLCA 14 24584832 24584832 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr14:24584832G>C c.29G>C c.(28-30)gGa>gCa p.G10A BLCA 14 24584853 24584853 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr14:24584853C>G c.50C>G c.(49-51)tCc>tGc p.S17C BLCA 14 24584927 24584927 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr14:24584927C>G c.124C>G c.(124-126)Ctg>Gtg p.L42V BLCA 14 24586196 24586196 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr14:24586196G>C c.226G>C c.(226-228)Gag>Cag p.E76Q BLCA 14 24588376 24588376 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr14:24588376G>C c.802G>C c.(802-804)Gtc>Ctc p.V268L BLCA 14 24590581 24590581 + Silent SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr14:24590581G>A c.1254G>A c.(1252-1254)cgG>cgA p.R418R BRCA 14 24584924 24584924 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr14:24584924G>T c.121G>T c.(121-123)Gat>Tat p.D41Y BRCA 14 24586235 24586235 + Missense_Mutation SNP G G T TCGA-BH-A0C7-01B-11D-A10Y-09 TCGA-BH-A0C7-10A-01D-A110-09 g.chr14:24586235G>T c.265G>T c.(265-267)Gat>Tat p.D89Y BRCA 14 24586486 24586486 + Missense_Mutation SNP C C T TCGA-BH-A0HY-01A-11W-A071-09 TCGA-BH-A0HY-10A-02W-A071-09 g.chr14:24586486C>T c.295C>T c.(295-297)Cct>Tct p.P99S BRCA 14 24586891 24586891 + Silent SNP C C T TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr14:24586891C>T c.426C>T c.(424-426)ctC>ctT p.L142L BRCA 14 24587304 24587304 + Nonsense_Mutation SNP C C T TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr14:24587304C>T c.517C>T c.(517-519)Cag>Tag p.Q173* BRCA 14 24587674 24587674 + Missense_Mutation SNP T T C TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr14:24587674T>C c.655T>C c.(655-657)Tgg>Cgg p.W219R BRCA 14 24588993 24588993 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr14:24588993G>C c.980G>C c.(979-981)gGa>gCa p.G327A BRCA 14 24590084 24590084 + Missense_Mutation SNP A A G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 g.chr14:24590084A>G c.1130A>G c.(1129-1131)cAg>cGg p.Q377R CESC 14 24588935 24588935 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr14:24588935G>C c.922G>C c.(922-924)Gat>Cat p.D308H COAD 14 24586174 24586174 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr14:24586174C>A c.204C>A c.(202-204)ttC>ttA p.F68L COAD 14 24586588 24586588 + Nonsense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:24586588C>T c.397C>T c.(397-399)Cga>Tga p.R133* COAD 14 24588997 24588997 + Silent SNP T T C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr14:24588997T>C c.984T>C c.(982-984)gaT>gaC p.D328D COAD 14 24589026 24589026 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:24589026G>A c.1013G>A c.(1012-1014)cGc>cAc p.R338H COAD 14 24590658 24590658 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr14:24590658G>A c.1331G>A c.(1330-1332)cGg>cAg p.R444Q COAD 14 24592463 24592463 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:24592463C>T c.1586C>T c.(1585-1587)gCc>gTc p.A529V COADREAD 14 24586174 24586174 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr14:24586174C>A c.204C>A c.(202-204)ttC>ttA p.F68L COADREAD 14 24586588 24586588 + Nonsense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:24586588C>T c.397C>T c.(397-399)Cga>Tga p.R133* COADREAD 14 24588997 24588997 + Silent SNP T T C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr14:24588997T>C c.984T>C c.(982-984)gaT>gaC p.D328D COADREAD 14 24589026 24589026 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:24589026G>A c.1013G>A c.(1012-1014)cGc>cAc p.R338H COADREAD 14 24590658 24590658 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr14:24590658G>A c.1331G>A c.(1330-1332)cGg>cAg p.R444Q COADREAD 14 24592285 24592285 + Splice_Site SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:24592285C>T c.1505C>T c.(1504-1506)tCg>tTg p.S502L COADREAD 14 24592463 24592463 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:24592463C>T c.1586C>T c.(1585-1587)gCc>gTc p.A529V ESCA 14 24587630 24587630 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 g.chr14:24587630G>A c.611G>A c.(610-612)gGc>gAc p.G204D GBM 14 24588926 24588926 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 g.chr14:24588926T>C c.913T>C c.(913-915)Tcc>Ccc p.S305P GBMLGG 14 24588926 24588926 + Missense_Mutation SNP T T C TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 g.chr14:24588926T>C c.913T>C c.(913-915)Tcc>Ccc p.S305P GBMLGG 14 24588928 24588928 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:24588928C>A c.915C>A c.(913-915)tcC>tcA p.S305S HNSC 14 24586208 24586208 + Missense_Mutation SNP G G C TCGA-CV-A463-01A-11D-A25Y-08 TCGA-CV-A463-10A-01D-A25Y-08 g.chr14:24586208G>C c.238G>C c.(238-240)Gac>Cac p.D80H HNSC 14 24589040 24589040 + Missense_Mutation SNP G G A TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr14:24589040G>A c.1027G>A c.(1027-1029)Gat>Aat p.D343N HNSC 14 24592244 24592244 + Silent SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 g.chr14:24592244C>T c.1464C>T c.(1462-1464)gaC>gaT p.D488D KIPAN 14 24587733 24587733 + Missense_Mutation SNP G G C TCGA-B0-5699-01A-11D-1534-10 TCGA-B0-5699-11A-01D-1534-10 g.chr14:24587733G>C c.714G>C c.(712-714)tgG>tgC p.W238C KIPAN 14 24588354 24588354 + Splice_Site SNP G G C TCGA-B8-5159-01A-01D-1421-08 TCGA-B8-5159-10A-01D-1421-08 g.chr14:24588354G>C c.780G>C c.(778-780)agG>agC p.R260S KIPAN 14 24590630 24590630 + Missense_Mutation SNP G G A TCGA-BP-4795-01A-02D-1421-08 TCGA-BP-4795-11A-01D-1421-08 g.chr14:24590630G>A c.1303G>A c.(1303-1305)Gga>Aga p.G435R KIPAN 14 24590696 24590697 + Frame_Shift_Ins INS - - AC TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr14:24590696_24590697insAC c.1369_1370insAC c.(1369-1371)tacfs p.Y457fs KIPAN 14 24590705 24590705 + Missense_Mutation SNP T T A TCGA-BP-4985-01A-01D-1462-08 TCGA-BP-4985-11A-01D-1462-08 g.chr14:24590705T>A c.1378T>A c.(1378-1380)Tgc>Agc p.C460S KIRC 14 24587733 24587733 + Missense_Mutation SNP G G C TCGA-B0-5699-01A-11D-1534-10 TCGA-B0-5699-11A-01D-1534-10 g.chr14:24587733G>C c.714G>C c.(712-714)tgG>tgC p.W238C KIRC 14 24588354 24588354 + Splice_Site SNP G G C TCGA-B8-5159-01A-01D-1421-08 TCGA-B8-5159-10A-01D-1421-08 g.chr14:24588354G>C c.780G>C c.(778-780)agG>agC p.R260S KIRC 14 24590630 24590630 + Missense_Mutation SNP G G A TCGA-BP-4795-01A-02D-1421-08 TCGA-BP-4795-11A-01D-1421-08 g.chr14:24590630G>A c.1303G>A c.(1303-1305)Gga>Aga p.G435R KIRC 14 24590696 24590697 + Frame_Shift_Ins INS - - AC TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr14:24590696_24590697insAC c.1369_1370insAC c.(1369-1371)tacfs p.Y457fs KIRC 14 24590705 24590705 + Missense_Mutation SNP T T A TCGA-BP-4985-01A-01D-1462-08 TCGA-BP-4985-11A-01D-1462-08 g.chr14:24590705T>A c.1378T>A c.(1378-1380)Tgc>Agc p.C460S LGG 14 24588928 24588928 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:24588928C>A c.915C>A c.(913-915)tcC>tcA p.S305S LIHC 14 24586232 24586232 + Missense_Mutation SNP G G T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr14:24586232G>T c.262G>T c.(262-264)Ggg>Tgg p.G88W LIHC 14 24590150 24590150 + Missense_Mutation SNP C C A TCGA-WJ-A86L-01A-12D-A45V-10 TCGA-WJ-A86L-10A-01D-A38X-10 g.chr14:24590150C>A c.1196C>A c.(1195-1197)gCt>gAt p.A399D LUAD 14 24586142 24586142 + Missense_Mutation SNP G G T TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-10A-01D-1105-08 g.chr14:24586142G>T c.172G>T c.(172-174)Gtg>Ttg p.V58L LUAD 14 24586552 24586552 + Missense_Mutation SNP G G A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 g.chr14:24586552G>A c.361G>A c.(361-363)Ggg>Agg p.G121R LUAD 14 24586899 24586899 + Missense_Mutation SNP G G T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr14:24586899G>T c.434G>T c.(433-435)cGg>cTg p.R145L LUAD 14 24588398 24588398 + Nonsense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr14:24588398C>G c.824C>G c.(823-825)tCa>tGa p.S275* OV 14 24592240 24592240 + Missense_Mutation SNP G G C TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 g.chr14:24592240G>C c.1460G>C c.(1459-1461)cGt>cCt p.R487P PAAD 14 24587623 24587623 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:24587623C>T c.604C>T c.(604-606)Cga>Tga p.R202* PCPG 14 24592285 24592285 + Splice_Site SNP C C T TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 g.chr14:24592285C>T c.1505C>T c.(1504-1506)tCg>tTg p.S502L PRAD 14 24588974 24588974 + Nonsense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:24588974C>T c.961C>T c.(961-963)Caa>Taa p.Q321* PRAD 14 24589002 24589002 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:24589002C>T c.989C>T c.(988-990)gCc>gTc p.A330V READ 14 24592285 24592285 + Splice_Site SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:24592285C>T c.1505C>T c.(1504-1506)tCg>tTg p.S502L SARC 14 24587326 24587326 + Missense_Mutation SNP A A G TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 g.chr14:24587326A>G c.539A>G c.(538-540)tAc>tGc p.Y180C SARC 14 24590047 24590047 + Splice_Site SNP G G T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 g.chr14:24590047G>T c.1093G>T c.(1093-1095)Ggt>Tgt p.G365C SKCM 14 24586911 24586911 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr14:24586911C>T c.446C>T c.(445-447)tCc>tTc p.S149F SKCM 14 24586912 24586912 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr14:24586912C>T c.447C>T c.(445-447)tcC>tcT p.S149S SKCM 14 24587348 24587348 + Silent SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr14:24587348C>T c.561C>T c.(559-561)ttC>ttT p.F187F SKCM 14 24587609 24587609 + Missense_Mutation SNP G G A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 g.chr14:24587609G>A c.590G>A c.(589-591)cGa>cAa p.R197Q SKCM 14 24587637 24587637 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr14:24587637C>T c.618C>T c.(616-618)ttC>ttT p.F206F SKCM 14 24587638 24587638 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr14:24587638C>T c.619C>T c.(619-621)Cgt>Tgt p.R207C SKCM 14 24588358 24588358 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr14:24588358G>A c.784G>A c.(784-786)Gat>Aat p.D262N SKCM 14 24588383 24588383 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr14:24588383C>T c.809C>T c.(808-810)tCc>tTc p.S270F SKCM 14 24588419 24588419 + Missense_Mutation SNP G G C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr14:24588419G>C c.845G>C c.(844-846)gGa>gCa p.G282A SKCM 14 24588993 24588993 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr14:24588993G>A c.980G>A c.(979-981)gGa>gAa p.G327E SKCM 14 24590046 24590046 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr14:24590046G>A c.e12-1 SKCM 14 24590118 24590118 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr14:24590118C>T c.1164C>T c.(1162-1164)tcC>tcT p.S388S SKCM 14 24590593 24590593 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr14:24590593C>T c.1266C>T c.(1264-1266)ctC>ctT p.L422L SKCM 14 24590594 24590594 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:24590594C>T c.1267C>T c.(1267-1269)Cca>Tca p.P423S SKCM 14 24590594 24590594 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 g.chr14:24590594C>T c.1267C>T c.(1267-1269)Cca>Tca p.P423S SKCM 14 24590600 24590600 + Missense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 g.chr14:24590600G>A c.1273G>A c.(1273-1275)Gac>Aac p.D425N SKCM 14 24592188 24592188 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr14:24592188C>T c.1408C>T c.(1408-1410)Ctt>Ttt p.L470F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 14 24584853 24584853 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 14 24584853 24584853 single base substitution C G exon_variant BLCA-US 14 24584853 24584853 single base substitution C G missense_variant S17C 50C>G BLCA-US 14 24584853 24584853 single base substitution C G upstream_gene_variant BLCA-US 14 24588376 24588376 single base substitution G C 3_prime_UTR_variant BLCA-US 14 24588376 24588376 single base substitution G C downstream_gene_variant BLCA-US 14 24588376 24588376 single base substitution G C exon_variant BLCA-US 14 24588376 24588376 single base substitution G C missense_variant V168L 502G>C BLCA-US 14 24588376 24588376 single base substitution G C missense_variant V242L 724G>C BLCA-US 14 24588376 24588376 single base substitution G C missense_variant V268L 802G>C BLCA-US 14 24588376 24588376 single base substitution G C missense_variant V8L 22G>C BLCA-US 14 24588376 24588376 single base substitution G C upstream_gene_variant BRCA-EU 14 24578462 24578462 single base substitution C A upstream_gene_variant BRCA-EU 14 24580518 24580518 single base substitution G C upstream_gene_variant BRCA-EU 14 24580905 24580905 single base substitution G A upstream_gene_variant BRCA-EU 14 24582981 24582981 single base substitution C T upstream_gene_variant BRCA-EU 14 24583585 24583585 single base substitution G A intron_variant BRCA-EU 14 24583585 24583585 single base substitution G A upstream_gene_variant BRCA-EU 14 24583690 24583690 single base substitution G T intron_variant BRCA-EU 14 24583690 24583690 single base substitution G T upstream_gene_variant BRCA-EU 14 24584099 24584099 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 14 24584099 24584099 single base substitution C T exon_variant BRCA-EU 14 24584099 24584099 single base substitution C T upstream_gene_variant BRCA-EU 14 24585412 24585412 single base substitution C A downstream_gene_variant BRCA-EU 14 24585412 24585412 single base substitution C A intron_variant BRCA-EU 14 24585412 24585412 single base substitution C A upstream_gene_variant BRCA-EU 14 24590271 24590271 single base substitution C T downstream_gene_variant BRCA-EU 14 24590271 24590271 single base substitution C T intron_variant BRCA-EU 14 24590537 24590537 deletion of <=200bp T - downstream_gene_variant BRCA-EU 14 24590537 24590537 deletion of <=200bp T - intron_variant BRCA-EU 14 24591612 24591612 single base substitution T C downstream_gene_variant BRCA-EU 14 24591612 24591612 single base substitution T C intron_variant BRCA-EU 14 24592285 24592285 single base substitution C T downstream_gene_variant BRCA-EU 14 24592285 24592285 single base substitution C T exon_variant BRCA-EU 14 24592285 24592285 single base substitution C T missense_variant S242L 725C>T BRCA-EU 14 24592285 24592285 single base substitution C T missense_variant S402L 1205C>T BRCA-EU 14 24592285 24592285 single base substitution C T missense_variant S476L 1427C>T BRCA-EU 14 24592285 24592285 single base substitution C T missense_variant S502L 1505C>T BRCA-EU 14 24592285 24592285 single base substitution C T splice_region_variant BRCA-EU 14 24594232 24594232 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 24594232 24594232 single base substitution C T downstream_gene_variant BRCA-EU 14 24598463 24598463 single base substitution G C downstream_gene_variant BRCA-EU 14 24598650 24598650 single base substitution G A downstream_gene_variant BRCA-EU 14 24599205 24599205 single base substitution G A downstream_gene_variant BRCA-EU 14 24599372 24599372 single base substitution G A downstream_gene_variant BRCA-FR 14 24593262 24593262 single base substitution C T 3_prime_UTR_variant BRCA-FR 14 24593262 24593262 single base substitution C T downstream_gene_variant BRCA-FR 14 24595579 24595579 single base substitution C T downstream_gene_variant BRCA-KR 14 24592554 24592554 single base substitution G A 3_prime_UTR_variant BRCA-KR 14 24592554 24592554 single base substitution G A downstream_gene_variant BRCA-KR 14 24592554 24592554 single base substitution G A exon_variant BRCA-UK 14 24580773 24580773 single base substitution A C upstream_gene_variant BRCA-US 14 24584924 24584924 single base substitution G T 5_prime_UTR_variant BRCA-US 14 24584924 24584924 single base substitution G T downstream_gene_variant BRCA-US 14 24584924 24584924 single base substitution G T exon_variant BRCA-US 14 24584924 24584924 single base substitution G T missense_variant D41Y 121G>T BRCA-US 14 24584924 24584924 single base substitution G T upstream_gene_variant BRCA-US 14 24586235 24586235 single base substitution G T 3_prime_UTR_variant BRCA-US 14 24586235 24586235 single base substitution G T downstream_gene_variant BRCA-US 14 24586235 24586235 single base substitution G T exon_variant BRCA-US 14 24586235 24586235 single base substitution G T intron_variant BRCA-US 14 24586235 24586235 single base substitution G T missense_variant D63Y 187G>T BRCA-US 14 24586235 24586235 single base substitution G T missense_variant D89Y 265G>T BRCA-US 14 24586235 24586235 single base substitution G T synonymous_variant G10G 30G>T BRCA-US 14 24586235 24586235 single base substitution G T synonymous_variant G70G 210G>T BRCA-US 14 24586235 24586235 single base substitution G T upstream_gene_variant BRCA-US 14 24586891 24586891 single base substitution C T 3_prime_UTR_variant BRCA-US 14 24586891 24586891 single base substitution C T downstream_gene_variant BRCA-US 14 24586891 24586891 single base substitution C T exon_variant BRCA-US 14 24586891 24586891 single base substitution C T intron_variant BRCA-US 14 24586891 24586891 single base substitution C T synonymous_variant L116L 348C>T BRCA-US 14 24586891 24586891 single base substitution C T synonymous_variant L142L 426C>T BRCA-US 14 24586891 24586891 single base substitution C T upstream_gene_variant BRCA-US 14 24587304 24587304 single base substitution C T 3_prime_UTR_variant BRCA-US 14 24587304 24587304 single base substitution C T downstream_gene_variant BRCA-US 14 24587304 24587304 single base substitution C T exon_variant BRCA-US 14 24587304 24587304 single base substitution C T intron_variant BRCA-US 14 24587304 24587304 single base substitution C T stop_gained Q133* 397C>T BRCA-US 14 24587304 24587304 single base substitution C T stop_gained Q147* 439C>T BRCA-US 14 24587304 24587304 single base substitution C T stop_gained Q173* 517C>T BRCA-US 14 24587304 24587304 single base substitution C T stop_gained Q73* 217C>T BRCA-US 14 24587304 24587304 single base substitution C T upstream_gene_variant BRCA-US 14 24587674 24587674 single base substitution T C 3_prime_UTR_variant BRCA-US 14 24587674 24587674 single base substitution T C downstream_gene_variant BRCA-US 14 24587674 24587674 single base substitution T C exon_variant BRCA-US 14 24587674 24587674 single base substitution T C missense_variant W119R 355T>C BRCA-US 14 24587674 24587674 single base substitution T C missense_variant W193R 577T>C BRCA-US 14 24587674 24587674 single base substitution T C missense_variant W219R 655T>C BRCA-US 14 24587674 24587674 single base substitution T C upstream_gene_variant BRCA-US 14 24588993 24588993 single base substitution G C 3_prime_UTR_variant BRCA-US 14 24588993 24588993 single base substitution G C downstream_gene_variant BRCA-US 14 24588993 24588993 single base substitution G C exon_variant BRCA-US 14 24588993 24588993 single base substitution G C missense_variant G227A 680G>C BRCA-US 14 24588993 24588993 single base substitution G C missense_variant G301A 902G>C BRCA-US 14 24588993 24588993 single base substitution G C missense_variant G327A 980G>C BRCA-US 14 24588993 24588993 single base substitution G C missense_variant G67A 200G>C BRCA-US 14 24588993 24588993 single base substitution G C upstream_gene_variant BRCA-US 14 24590084 24590084 single base substitution A G 3_prime_UTR_variant BRCA-US 14 24590084 24590084 single base substitution A G downstream_gene_variant BRCA-US 14 24590084 24590084 single base substitution A G exon_variant BRCA-US 14 24590084 24590084 single base substitution A G missense_variant Q117R 350A>G BRCA-US 14 24590084 24590084 single base substitution A G missense_variant Q277R 830A>G BRCA-US 14 24590084 24590084 single base substitution A G missense_variant Q351R 1052A>G BRCA-US 14 24590084 24590084 single base substitution A G missense_variant Q377R 1130A>G BRCA-US 14 24590084 24590084 single base substitution A G upstream_gene_variant BTCA-JP 14 24586567 24586567 single base substitution G A 3_prime_UTR_variant BTCA-JP 14 24586567 24586567 single base substitution G A downstream_gene_variant BTCA-JP 14 24586567 24586567 single base substitution G A exon_variant BTCA-JP 14 24586567 24586567 single base substitution G A intron_variant BTCA-JP 14 24586567 24586567 single base substitution G A missense_variant A100T 298G>A BTCA-JP 14 24586567 24586567 single base substitution G A missense_variant A126T 376G>A BTCA-JP 14 24586567 24586567 single base substitution G A synonymous_variant P107P 321G>A BTCA-JP 14 24586567 24586567 single base substitution G A synonymous_variant P47P 141G>A BTCA-JP 14 24586567 24586567 single base substitution G A upstream_gene_variant BTCA-JP 14 24590509 24590509 single base substitution T G downstream_gene_variant BTCA-JP 14 24590509 24590509 single base substitution T G intron_variant BTCA-JP 14 24590587 24590587 single base substitution G A 3_prime_UTR_variant BTCA-JP 14 24590587 24590587 single base substitution G A downstream_gene_variant BTCA-JP 14 24590587 24590587 single base substitution G A exon_variant BTCA-JP 14 24590587 24590587 single base substitution G A synonymous_variant L160L 480G>A BTCA-JP 14 24590587 24590587 single base substitution G A synonymous_variant L320L 960G>A BTCA-JP 14 24590587 24590587 single base substitution G A synonymous_variant L394L 1182G>A BTCA-JP 14 24590587 24590587 single base substitution G A synonymous_variant L420L 1260G>A BTCA-JP 14 24590657 24590657 single base substitution C T 3_prime_UTR_variant BTCA-JP 14 24590657 24590657 single base substitution C T downstream_gene_variant BTCA-JP 14 24590657 24590657 single base substitution C T exon_variant BTCA-JP 14 24590657 24590657 single base substitution C T missense_variant R184W 550C>T BTCA-JP 14 24590657 24590657 single base substitution C T missense_variant R344W 1030C>T BTCA-JP 14 24590657 24590657 single base substitution C T missense_variant R418W 1252C>T BTCA-JP 14 24590657 24590657 single base substitution C T missense_variant R444W 1330C>T CESC-US 14 24588935 24588935 single base substitution G C 3_prime_UTR_variant CESC-US 14 24588935 24588935 single base substitution G C downstream_gene_variant CESC-US 14 24588935 24588935 single base substitution G C exon_variant CESC-US 14 24588935 24588935 single base substitution G C missense_variant D208H 622G>C CESC-US 14 24588935 24588935 single base substitution G C missense_variant D282H 844G>C CESC-US 14 24588935 24588935 single base substitution G C missense_variant D308H 922G>C CESC-US 14 24588935 24588935 single base substitution G C missense_variant D48H 142G>C CESC-US 14 24588935 24588935 single base substitution G C upstream_gene_variant CLLE-ES 14 24597103 24597103 single base substitution T G downstream_gene_variant COAD-US 14 24586174 24586174 single base substitution C A 5_prime_UTR_variant COAD-US 14 24586174 24586174 single base substitution C A downstream_gene_variant COAD-US 14 24586174 24586174 single base substitution C A exon_variant COAD-US 14 24586174 24586174 single base substitution C A intron_variant COAD-US 14 24586174 24586174 single base substitution C A missense_variant F68L 204C>A COAD-US 14 24586174 24586174 single base substitution C A missense_variant H61N 181C>A COAD-US 14 24586174 24586174 single base substitution C A splice_region_variant COAD-US 14 24586174 24586174 single base substitution C A upstream_gene_variant COAD-US 14 24587320 24587320 single base substitution G A 3_prime_UTR_variant COAD-US 14 24587320 24587320 single base substitution G A downstream_gene_variant COAD-US 14 24587320 24587320 single base substitution G A exon_variant COAD-US 14 24587320 24587320 single base substitution G A intron_variant COAD-US 14 24587320 24587320 single base substitution G A missense_variant G138D 413G>A COAD-US 14 24587320 24587320 single base substitution G A missense_variant G152D 455G>A COAD-US 14 24587320 24587320 single base substitution G A missense_variant G178D 533G>A COAD-US 14 24587320 24587320 single base substitution G A missense_variant G78D 233G>A COAD-US 14 24587320 24587320 single base substitution G A upstream_gene_variant COAD-US 14 24589026 24589026 single base substitution G A 3_prime_UTR_variant COAD-US 14 24589026 24589026 single base substitution G A downstream_gene_variant COAD-US 14 24589026 24589026 single base substitution G A exon_variant COAD-US 14 24589026 24589026 single base substitution G A missense_variant R238H 713G>A COAD-US 14 24589026 24589026 single base substitution G A missense_variant R312H 935G>A COAD-US 14 24589026 24589026 single base substitution G A missense_variant R338H 1013G>A COAD-US 14 24589026 24589026 single base substitution G A missense_variant R78H 233G>A COAD-US 14 24589026 24589026 single base substitution G A upstream_gene_variant COAD-US 14 24590658 24590658 single base substitution G A 3_prime_UTR_variant COAD-US 14 24590658 24590658 single base substitution G A downstream_gene_variant COAD-US 14 24590658 24590658 single base substitution G A exon_variant COAD-US 14 24590658 24590658 single base substitution G A missense_variant R184Q 551G>A COAD-US 14 24590658 24590658 single base substitution G A missense_variant R344Q 1031G>A COAD-US 14 24590658 24590658 single base substitution G A missense_variant R418Q 1253G>A COAD-US 14 24590658 24590658 single base substitution G A missense_variant R444Q 1331G>A COAD-US 14 24592463 24592463 single base substitution C T 3_prime_UTR_variant COAD-US 14 24592463 24592463 single base substitution C T downstream_gene_variant COAD-US 14 24592463 24592463 single base substitution C T exon_variant COAD-US 14 24592463 24592463 single base substitution C T missense_variant A429V 1286C>T COAD-US 14 24592463 24592463 single base substitution C T missense_variant A503V 1508C>T COAD-US 14 24592463 24592463 single base substitution C T missense_variant A529V 1586C>T COCA-CN 14 24586344 24586344 single base substitution G A downstream_gene_variant COCA-CN 14 24586344 24586344 single base substitution G A intron_variant COCA-CN 14 24586344 24586344 single base substitution G A upstream_gene_variant COCA-CN 14 24588434 24588434 single base substitution T C downstream_gene_variant COCA-CN 14 24588434 24588434 single base substitution T C exon_variant COCA-CN 14 24588434 24588434 single base substitution T C intron_variant COCA-CN 14 24588434 24588434 single base substitution T C upstream_gene_variant COCA-CN 14 24590518 24590518 single base substitution G A downstream_gene_variant COCA-CN 14 24590518 24590518 single base substitution G A intron_variant COCA-CN 14 24592086 24592086 single base substitution T G downstream_gene_variant COCA-CN 14 24592086 24592086 single base substitution T G intron_variant COCA-CN 14 24592504 24592504 single base substitution T C 3_prime_UTR_variant COCA-CN 14 24592504 24592504 single base substitution T C downstream_gene_variant COCA-CN 14 24592504 24592504 single base substitution T C exon_variant COCA-CN 14 24592504 24592504 single base substitution T C missense_variant S443P 1327T>C COCA-CN 14 24592504 24592504 single base substitution T C missense_variant S517P 1549T>C COCA-CN 14 24592504 24592504 single base substitution T C missense_variant S543P 1627T>C ESAD-UK 14 24586281 24586281 single base substitution A C downstream_gene_variant ESAD-UK 14 24586281 24586281 single base substitution A C intron_variant ESAD-UK 14 24586281 24586281 single base substitution A C upstream_gene_variant ESAD-UK 14 24589531 24589531 single base substitution C T downstream_gene_variant ESAD-UK 14 24589531 24589531 single base substitution C T intron_variant ESAD-UK 14 24589531 24589531 single base substitution C T upstream_gene_variant ESAD-UK 14 24590391 24590391 single base substitution T C downstream_gene_variant ESAD-UK 14 24590391 24590391 single base substitution T C intron_variant ESAD-UK 14 24590545 24590545 single base substitution C G downstream_gene_variant ESAD-UK 14 24590545 24590545 single base substitution C G intron_variant ESAD-UK 14 24592239 24592239 single base substitution C T 3_prime_UTR_variant ESAD-UK 14 24592239 24592239 single base substitution C T downstream_gene_variant ESAD-UK 14 24592239 24592239 single base substitution C T exon_variant ESAD-UK 14 24592239 24592239 single base substitution C T missense_variant R227C 679C>T ESAD-UK 14 24592239 24592239 single base substitution C T missense_variant R387C 1159C>T ESAD-UK 14 24592239 24592239 single base substitution C T missense_variant R461C 1381C>T ESAD-UK 14 24592239 24592239 single base substitution C T missense_variant R487C 1459C>T ESAD-UK 14 24592760 24592760 single base substitution C T 3_prime_UTR_variant ESAD-UK 14 24592760 24592760 single base substitution C T downstream_gene_variant ESAD-UK 14 24592760 24592760 single base substitution C T exon_variant ESAD-UK 14 24595163 24595163 single base substitution A T downstream_gene_variant GBM-US 14 24588926 24588926 single base substitution T C 3_prime_UTR_variant GBM-US 14 24588926 24588926 single base substitution T C downstream_gene_variant GBM-US 14 24588926 24588926 single base substitution T C exon_variant GBM-US 14 24588926 24588926 single base substitution T C missense_variant S205P 613T>C GBM-US 14 24588926 24588926 single base substitution T C missense_variant S279P 835T>C GBM-US 14 24588926 24588926 single base substitution T C missense_variant S305P 913T>C GBM-US 14 24588926 24588926 single base substitution T C missense_variant S45P 133T>C GBM-US 14 24588926 24588926 single base substitution T C upstream_gene_variant KIRC-US 14 24587733 24587733 single base substitution G C 3_prime_UTR_variant KIRC-US 14 24587733 24587733 single base substitution G C downstream_gene_variant KIRC-US 14 24587733 24587733 single base substitution G C exon_variant KIRC-US 14 24587733 24587733 single base substitution G C missense_variant W138C 414G>C KIRC-US 14 24587733 24587733 single base substitution G C missense_variant W212C 636G>C KIRC-US 14 24587733 24587733 single base substitution G C missense_variant W238C 714G>C KIRC-US 14 24587733 24587733 single base substitution G C upstream_gene_variant KIRC-US 14 24588354 24588354 single base substitution G C downstream_gene_variant KIRC-US 14 24588354 24588354 single base substitution G C exon_variant KIRC-US 14 24588354 24588354 single base substitution G C missense_variant R160S 480G>C KIRC-US 14 24588354 24588354 single base substitution G C missense_variant R234S 702G>C KIRC-US 14 24588354 24588354 single base substitution G C missense_variant R260S 780G>C KIRC-US 14 24588354 24588354 single base substitution G C splice_region_variant KIRC-US 14 24588354 24588354 single base substitution G C upstream_gene_variant KIRC-US 14 24590696 24590696 insertion of <=200bp - AC 3_prime_UTR_variant KIRC-US 14 24590696 24590696 insertion of <=200bp - AC downstream_gene_variant KIRC-US 14 24590696 24590696 insertion of <=200bp - AC exon_variant KIRC-US 14 24590696 24590696 insertion of <=200bp - AC frameshift_variant Y197T? KIRC-US 14 24590696 24590696 insertion of <=200bp - AC frameshift_variant Y357T? KIRC-US 14 24590696 24590696 insertion of <=200bp - AC frameshift_variant Y431T? KIRC-US 14 24590696 24590696 insertion of <=200bp - AC frameshift_variant Y457T? KIRC-US 14 24590705 24590705 single base substitution T A 3_prime_UTR_variant KIRC-US 14 24590705 24590705 single base substitution T A downstream_gene_variant KIRC-US 14 24590705 24590705 single base substitution T A exon_variant KIRC-US 14 24590705 24590705 single base substitution T A missense_variant C200S 598T>A KIRC-US 14 24590705 24590705 single base substitution T A missense_variant C360S 1078T>A KIRC-US 14 24590705 24590705 single base substitution T A missense_variant C434S 1300T>A KIRC-US 14 24590705 24590705 single base substitution T A missense_variant C460S 1378T>A LAML-KR 14 24587504 24587504 single base substitution A G downstream_gene_variant LAML-KR 14 24587504 24587504 single base substitution A G intron_variant LAML-KR 14 24587504 24587504 single base substitution A G upstream_gene_variant LICA-CN 14 24586558 24586558 single base substitution A T 3_prime_UTR_variant LICA-CN 14 24586558 24586558 single base substitution A T downstream_gene_variant LICA-CN 14 24586558 24586558 single base substitution A T exon_variant LICA-CN 14 24586558 24586558 single base substitution A T intron_variant LICA-CN 14 24586558 24586558 single base substitution A T missense_variant L104F 312A>T LICA-CN 14 24586558 24586558 single base substitution A T missense_variant L44F 132A>T LICA-CN 14 24586558 24586558 single base substitution A T missense_variant R123W 367A>T LICA-CN 14 24586558 24586558 single base substitution A T missense_variant R97W 289A>T LICA-CN 14 24586558 24586558 single base substitution A T synonymous_variant ?123 LICA-CN 14 24586558 24586558 single base substitution A T upstream_gene_variant LICA-FR 14 24583786 24583786 single base substitution C T intron_variant LICA-FR 14 24583786 24583786 single base substitution C T upstream_gene_variant LICA-FR 14 24586887 24586887 single base substitution G A 3_prime_UTR_variant LICA-FR 14 24586887 24586887 single base substitution G A downstream_gene_variant LICA-FR 14 24586887 24586887 single base substitution G A exon_variant LICA-FR 14 24586887 24586887 single base substitution G A intron_variant LICA-FR 14 24586887 24586887 single base substitution G A missense_variant G115D 344G>A LICA-FR 14 24586887 24586887 single base substitution G A missense_variant G141D 422G>A LICA-FR 14 24586887 24586887 single base substitution G A upstream_gene_variant LIHC-US 14 24586232 24586232 single base substitution G T 3_prime_UTR_variant LIHC-US 14 24586232 24586232 single base substitution G T downstream_gene_variant LIHC-US 14 24586232 24586232 single base substitution G T exon_variant LIHC-US 14 24586232 24586232 single base substitution G T intron_variant LIHC-US 14 24586232 24586232 single base substitution G T missense_variant G62W 184G>T LIHC-US 14 24586232 24586232 single base substitution G T missense_variant G88W 262G>T LIHC-US 14 24586232 24586232 single base substitution G T missense_variant L69F 207G>T LIHC-US 14 24586232 24586232 single base substitution G T missense_variant L9F 27G>T LIHC-US 14 24586232 24586232 single base substitution G T upstream_gene_variant LINC-JP 14 24584881 24584881 single base substitution C G 5_prime_UTR_variant LINC-JP 14 24584881 24584881 single base substitution C G exon_variant LINC-JP 14 24584881 24584881 single base substitution C G synonymous_variant G26G 78C>G LINC-JP 14 24584881 24584881 single base substitution C G upstream_gene_variant LINC-JP 14 24587684 24587684 single base substitution T A 3_prime_UTR_variant LINC-JP 14 24587684 24587684 single base substitution T A downstream_gene_variant LINC-JP 14 24587684 24587684 single base substitution T A exon_variant LINC-JP 14 24587684 24587684 single base substitution T A stop_gained L122* 365T>A LINC-JP 14 24587684 24587684 single base substitution T A stop_gained L196* 587T>A LINC-JP 14 24587684 24587684 single base substitution T A stop_gained L222* 665T>A LINC-JP 14 24587684 24587684 single base substitution T A upstream_gene_variant LINC-JP 14 24591722 24591722 single base substitution G A downstream_gene_variant LINC-JP 14 24591722 24591722 single base substitution G A intron_variant LINC-JP 14 24596011 24596011 single base substitution A T downstream_gene_variant LIRI-JP 14 24578581 24578581 single base substitution G A upstream_gene_variant LIRI-JP 14 24579890 24579890 single base substitution G C upstream_gene_variant LIRI-JP 14 24583272 24583272 single base substitution C G upstream_gene_variant LIRI-JP 14 24583330 24583330 single base substitution C T upstream_gene_variant LIRI-JP 14 24585448 24585448 single base substitution G A downstream_gene_variant LIRI-JP 14 24585448 24585448 single base substitution G A intron_variant LIRI-JP 14 24585448 24585448 single base substitution G A upstream_gene_variant LIRI-JP 14 24589958 24589958 single base substitution C G downstream_gene_variant LIRI-JP 14 24589958 24589958 single base substitution C G intron_variant LIRI-JP 14 24589958 24589958 single base substitution C G upstream_gene_variant LIRI-JP 14 24592660 24592660 single base substitution G T 3_prime_UTR_variant LIRI-JP 14 24592660 24592660 single base substitution G T downstream_gene_variant LIRI-JP 14 24592660 24592660 single base substitution G T exon_variant LIRI-JP 14 24594082 24594082 single base substitution C G 3_prime_UTR_variant LIRI-JP 14 24594082 24594082 single base substitution C G downstream_gene_variant LIRI-JP 14 24594789 24594789 single base substitution C T downstream_gene_variant LIRI-JP 14 24596602 24596602 single base substitution T A downstream_gene_variant LIRI-JP 14 24598804 24598804 single base substitution G A downstream_gene_variant LUSC-KR 14 24579769 24579769 single base substitution G T upstream_gene_variant LUSC-KR 14 24583748 24583748 single base substitution C A intron_variant LUSC-KR 14 24583748 24583748 single base substitution C A upstream_gene_variant LUSC-KR 14 24586833 24586833 single base substitution C T downstream_gene_variant LUSC-KR 14 24586833 24586833 single base substitution C T intron_variant LUSC-KR 14 24586833 24586833 single base substitution C T upstream_gene_variant LUSC-KR 14 24587504 24587504 single base substitution A G downstream_gene_variant LUSC-KR 14 24587504 24587504 single base substitution A G intron_variant LUSC-KR 14 24587504 24587504 single base substitution A G upstream_gene_variant LUSC-KR 14 24589919 24589919 single base substitution C T downstream_gene_variant LUSC-KR 14 24589919 24589919 single base substitution C T intron_variant LUSC-KR 14 24589919 24589919 single base substitution C T upstream_gene_variant MELA-AU 14 24579115 24579115 single base substitution G A upstream_gene_variant MELA-AU 14 24579132 24579132 single base substitution A G upstream_gene_variant MELA-AU 14 24579399 24579399 single base substitution G A upstream_gene_variant MELA-AU 14 24580001 24580001 single base substitution G A upstream_gene_variant MELA-AU 14 24580815 24580815 single base substitution A G upstream_gene_variant MELA-AU 14 24582947 24582948 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 24583083 24583083 single base substitution G A upstream_gene_variant MELA-AU 14 24583248 24583248 single base substitution G A upstream_gene_variant MELA-AU 14 24583259 24583259 single base substitution G A upstream_gene_variant MELA-AU 14 24583353 24583353 single base substitution G A upstream_gene_variant MELA-AU 14 24583393 24583393 single base substitution A G upstream_gene_variant MELA-AU 14 24583985 24583985 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 14 24583985 24583985 single base substitution C T exon_variant MELA-AU 14 24583985 24583985 single base substitution C T upstream_gene_variant MELA-AU 14 24584350 24584350 single base substitution C T 5_prime_UTR_variant MELA-AU 14 24584350 24584350 single base substitution C T intron_variant MELA-AU 14 24584350 24584350 single base substitution C T upstream_gene_variant MELA-AU 14 24584927 24584927 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 14 24584927 24584927 single base substitution C T downstream_gene_variant MELA-AU 14 24584927 24584927 single base substitution C T exon_variant MELA-AU 14 24584927 24584927 single base substitution C T synonymous_variant L42L 124C>T MELA-AU 14 24584927 24584927 single base substitution C T upstream_gene_variant MELA-AU 14 24585019 24585019 single base substitution C T downstream_gene_variant MELA-AU 14 24585019 24585019 single base substitution C T intron_variant MELA-AU 14 24585019 24585019 single base substitution C T upstream_gene_variant MELA-AU 14 24586912 24586912 single base substitution C T 3_prime_UTR_variant MELA-AU 14 24586912 24586912 single base substitution C T downstream_gene_variant MELA-AU 14 24586912 24586912 single base substitution C T exon_variant MELA-AU 14 24586912 24586912 single base substitution C T intron_variant MELA-AU 14 24586912 24586912 single base substitution C T synonymous_variant S123S 369C>T MELA-AU 14 24586912 24586912 single base substitution C T synonymous_variant S149S 447C>T MELA-AU 14 24586912 24586912 single base substitution C T upstream_gene_variant MELA-AU 14 24587110 24587110 single base substitution T C downstream_gene_variant MELA-AU 14 24587110 24587110 single base substitution T C intron_variant MELA-AU 14 24587110 24587110 single base substitution T C upstream_gene_variant MELA-AU 14 24587397 24587397 single base substitution C T downstream_gene_variant MELA-AU 14 24587397 24587397 single base substitution C T intron_variant MELA-AU 14 24587397 24587397 single base substitution C T upstream_gene_variant MELA-AU 14 24587486 24587486 single base substitution G A downstream_gene_variant MELA-AU 14 24587486 24587486 single base substitution G A intron_variant MELA-AU 14 24587486 24587486 single base substitution G A upstream_gene_variant MELA-AU 14 24588105 24588106 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 24588105 24588106 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 14 24588105 24588106 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 24588105 24588106 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 24588447 24588447 single base substitution C T downstream_gene_variant MELA-AU 14 24588447 24588447 single base substitution C T exon_variant MELA-AU 14 24588447 24588447 single base substitution C T intron_variant MELA-AU 14 24588447 24588447 single base substitution C T upstream_gene_variant MELA-AU 14 24588582 24588582 single base substitution C T downstream_gene_variant MELA-AU 14 24588582 24588582 single base substitution C T exon_variant MELA-AU 14 24588582 24588582 single base substitution C T intron_variant MELA-AU 14 24588582 24588582 single base substitution C T upstream_gene_variant MELA-AU 14 24589267 24589267 single base substitution C T downstream_gene_variant MELA-AU 14 24589267 24589267 single base substitution C T intron_variant MELA-AU 14 24589267 24589267 single base substitution C T upstream_gene_variant MELA-AU 14 24590030 24590030 single base substitution C T downstream_gene_variant MELA-AU 14 24590030 24590030 single base substitution C T intron_variant MELA-AU 14 24590030 24590030 single base substitution C T upstream_gene_variant MELA-AU 14 24590244 24590245 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 24590244 24590245 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 24590274 24590274 single base substitution C T downstream_gene_variant MELA-AU 14 24590274 24590274 single base substitution C T intron_variant MELA-AU 14 24590593 24590593 single base substitution C T 3_prime_UTR_variant MELA-AU 14 24590593 24590593 single base substitution C T downstream_gene_variant MELA-AU 14 24590593 24590593 single base substitution C T exon_variant MELA-AU 14 24590593 24590593 single base substitution C T synonymous_variant L162L 486C>T MELA-AU 14 24590593 24590593 single base substitution C T synonymous_variant L322L 966C>T MELA-AU 14 24590593 24590593 single base substitution C T synonymous_variant L396L 1188C>T MELA-AU 14 24590593 24590593 single base substitution C T synonymous_variant L422L 1266C>T MELA-AU 14 24590761 24590761 single base substitution G A downstream_gene_variant MELA-AU 14 24590761 24590761 single base substitution G A exon_variant MELA-AU 14 24590761 24590761 single base substitution G A intron_variant MELA-AU 14 24590905 24590905 single base substitution T C downstream_gene_variant MELA-AU 14 24590905 24590905 single base substitution T C exon_variant MELA-AU 14 24590905 24590905 single base substitution T C intron_variant MELA-AU 14 24591413 24591413 single base substitution C T downstream_gene_variant MELA-AU 14 24591413 24591413 single base substitution C T intron_variant MELA-AU 14 24591590 24591590 single base substitution C T downstream_gene_variant MELA-AU 14 24591590 24591590 single base substitution C T intron_variant MELA-AU 14 24591887 24591887 single base substitution C T downstream_gene_variant MELA-AU 14 24591887 24591887 single base substitution C T intron_variant MELA-AU 14 24592285 24592285 single base substitution C T downstream_gene_variant MELA-AU 14 24592285 24592285 single base substitution C T exon_variant MELA-AU 14 24592285 24592285 single base substitution C T missense_variant S242L 725C>T MELA-AU 14 24592285 24592285 single base substitution C T missense_variant S402L 1205C>T MELA-AU 14 24592285 24592285 single base substitution C T missense_variant S476L 1427C>T MELA-AU 14 24592285 24592285 single base substitution C T missense_variant S502L 1505C>T MELA-AU 14 24592285 24592285 single base substitution C T splice_region_variant MELA-AU 14 24592837 24592837 single base substitution G A 3_prime_UTR_variant MELA-AU 14 24592837 24592837 single base substitution G A downstream_gene_variant MELA-AU 14 24592837 24592837 single base substitution G A exon_variant MELA-AU 14 24593137 24593137 single base substitution C T 3_prime_UTR_variant MELA-AU 14 24593137 24593137 single base substitution C T downstream_gene_variant MELA-AU 14 24593137 24593137 single base substitution C T exon_variant MELA-AU 14 24593644 24593644 single base substitution C T 3_prime_UTR_variant MELA-AU 14 24593644 24593644 single base substitution C T downstream_gene_variant MELA-AU 14 24594454 24594454 single base substitution C T downstream_gene_variant MELA-AU 14 24594896 24594896 single base substitution C T downstream_gene_variant MELA-AU 14 24595264 24595264 single base substitution C T downstream_gene_variant MELA-AU 14 24595790 24595790 single base substitution C T downstream_gene_variant MELA-AU 14 24596047 24596047 single base substitution C T downstream_gene_variant MELA-AU 14 24596650 24596650 single base substitution G A downstream_gene_variant MELA-AU 14 24596665 24596665 single base substitution G A downstream_gene_variant MELA-AU 14 24597791 24597791 single base substitution G A downstream_gene_variant MELA-AU 14 24597870 24597870 single base substitution G A downstream_gene_variant MELA-AU 14 24598229 24598229 single base substitution C T downstream_gene_variant MELA-AU 14 24598873 24598873 single base substitution C T downstream_gene_variant MELA-AU 14 24598896 24598896 single base substitution G A downstream_gene_variant MELA-AU 14 24598990 24598990 single base substitution C T downstream_gene_variant MELA-AU 14 24599254 24599254 single base substitution G A downstream_gene_variant MELA-AU 14 24599259 24599259 single base substitution G A downstream_gene_variant MELA-AU 14 24599265 24599265 single base substitution A T downstream_gene_variant ORCA-IN 14 24595358 24595358 single base substitution G C downstream_gene_variant ORCA-IN 14 24598599 24598599 single base substitution G A downstream_gene_variant OV-AU 14 24586380 24586380 single base substitution T G downstream_gene_variant OV-AU 14 24586380 24586380 single base substitution T G intron_variant OV-AU 14 24586380 24586380 single base substitution T G upstream_gene_variant OV-AU 14 24586475 24586475 single base substitution T G downstream_gene_variant OV-AU 14 24586475 24586475 single base substitution T G intron_variant OV-AU 14 24586475 24586475 single base substitution T G missense_variant V69G 206T>G OV-AU 14 24586475 24586475 single base substitution T G missense_variant V95G 284T>G OV-AU 14 24586475 24586475 single base substitution T G missense_variant W17G 49T>G OV-AU 14 24586475 24586475 single base substitution T G missense_variant W77G 229T>G OV-AU 14 24586475 24586475 single base substitution T G splice_region_variant OV-AU 14 24586475 24586475 single base substitution T G upstream_gene_variant OV-AU 14 24587876 24587876 single base substitution C T downstream_gene_variant OV-AU 14 24587876 24587876 single base substitution C T exon_variant OV-AU 14 24587876 24587876 single base substitution C T intron_variant OV-AU 14 24587876 24587876 single base substitution C T upstream_gene_variant OV-AU 14 24587877 24587877 single base substitution C A downstream_gene_variant OV-AU 14 24587877 24587877 single base substitution C A exon_variant OV-AU 14 24587877 24587877 single base substitution C A intron_variant OV-AU 14 24587877 24587877 single base substitution C A upstream_gene_variant OV-AU 14 24591568 24591568 single base substitution G C downstream_gene_variant OV-AU 14 24591568 24591568 single base substitution G C intron_variant OV-AU 14 24592760 24592760 single base substitution C A 3_prime_UTR_variant OV-AU 14 24592760 24592760 single base substitution C A downstream_gene_variant OV-AU 14 24592760 24592760 single base substitution C A exon_variant OV-AU 14 24594693 24594693 single base substitution A T downstream_gene_variant PACA-AU 14 24579783 24579783 single base substitution A C upstream_gene_variant PACA-AU 14 24591280 24591280 single base substitution T G downstream_gene_variant PACA-AU 14 24591280 24591280 single base substitution T G exon_variant PACA-AU 14 24591280 24591280 single base substitution T G intron_variant PACA-AU 14 24592704 24592704 single base substitution G A 3_prime_UTR_variant PACA-AU 14 24592704 24592704 single base substitution G A downstream_gene_variant PACA-AU 14 24592704 24592704 single base substitution G A exon_variant PACA-AU 14 24595322 24595322 single base substitution C T downstream_gene_variant PACA-AU 14 24596597 24596597 single base substitution A G downstream_gene_variant PACA-CA 14 24586957 24586957 single base substitution G A downstream_gene_variant PACA-CA 14 24586957 24586957 single base substitution G A intron_variant PACA-CA 14 24586957 24586957 single base substitution G A upstream_gene_variant PACA-CA 14 24590010 24590010 single base substitution A T downstream_gene_variant PACA-CA 14 24590010 24590010 single base substitution A T intron_variant PACA-CA 14 24590010 24590010 single base substitution A T upstream_gene_variant PACA-CA 14 24591150 24591150 single base substitution A G downstream_gene_variant PACA-CA 14 24591150 24591150 single base substitution A G exon_variant PACA-CA 14 24591150 24591150 single base substitution A G intron_variant PACA-CA 14 24592467 24592467 single base substitution C T 3_prime_UTR_variant PACA-CA 14 24592467 24592467 single base substitution C T downstream_gene_variant PACA-CA 14 24592467 24592467 single base substitution C T exon_variant PACA-CA 14 24592467 24592467 single base substitution C T synonymous_variant S430S 1290C>T PACA-CA 14 24592467 24592467 single base substitution C T synonymous_variant S504S 1512C>T PACA-CA 14 24592467 24592467 single base substitution C T synonymous_variant S530S 1590C>T PACA-CA 14 24595361 24595361 insertion of <=200bp - T downstream_gene_variant PACA-CA 14 24598219 24598219 single base substitution C T downstream_gene_variant PACA-CA 14 24599415 24599415 single base substitution G A downstream_gene_variant PAEN-AU 14 24583281 24583281 single base substitution A C upstream_gene_variant PAEN-AU 14 24584536 24584536 single base substitution G T 5_prime_UTR_variant PAEN-AU 14 24584536 24584536 single base substitution G T intron_variant PAEN-AU 14 24584536 24584536 single base substitution G T upstream_gene_variant PBCA-DE 14 24584893 24584893 single base substitution T G 5_prime_UTR_variant PBCA-DE 14 24584893 24584893 single base substitution T G exon_variant PBCA-DE 14 24584893 24584893 single base substitution T G missense_variant S30R 90T>G PBCA-DE 14 24584893 24584893 single base substitution T G upstream_gene_variant PRAD-CA 14 24595596 24595596 single base substitution T C downstream_gene_variant PRAD-CA 14 24595597 24595597 single base substitution C T downstream_gene_variant PRAD-UK 14 24585686 24585686 single base substitution C T downstream_gene_variant PRAD-UK 14 24585686 24585686 single base substitution C T intron_variant PRAD-UK 14 24585686 24585686 single base substitution C T upstream_gene_variant PRAD-UK 14 24587295 24587295 single base substitution A G 3_prime_UTR_variant PRAD-UK 14 24587295 24587295 single base substitution A G downstream_gene_variant PRAD-UK 14 24587295 24587295 single base substitution A G exon_variant PRAD-UK 14 24587295 24587295 single base substitution A G intron_variant PRAD-UK 14 24587295 24587295 single base substitution A G missense_variant S130G 388A>G PRAD-UK 14 24587295 24587295 single base substitution A G missense_variant S144G 430A>G PRAD-UK 14 24587295 24587295 single base substitution A G missense_variant S170G 508A>G PRAD-UK 14 24587295 24587295 single base substitution A G missense_variant S70G 208A>G PRAD-UK 14 24587295 24587295 single base substitution A G upstream_gene_variant PRAD-UK 14 24595928 24595928 single base substitution G A downstream_gene_variant SKCA-BR 14 24578679 24578679 single base substitution C T upstream_gene_variant SKCA-BR 14 24578817 24578817 single base substitution G A upstream_gene_variant SKCA-BR 14 24580675 24580675 single base substitution C T upstream_gene_variant SKCA-BR 14 24580719 24580719 single base substitution A G upstream_gene_variant SKCA-BR 14 24581664 24581664 single base substitution G A upstream_gene_variant SKCA-BR 14 24588613 24588613 single base substitution C T downstream_gene_variant SKCA-BR 14 24588613 24588613 single base substitution C T exon_variant SKCA-BR 14 24588613 24588613 single base substitution C T intron_variant SKCA-BR 14 24588613 24588613 single base substitution C T upstream_gene_variant SKCA-BR 14 24593493 24593493 single base substitution C T 3_prime_UTR_variant SKCA-BR 14 24593493 24593493 single base substitution C T downstream_gene_variant SKCA-BR 14 24596714 24596714 single base substitution G A downstream_gene_variant SKCA-BR 14 24598162 24598162 single base substitution T G downstream_gene_variant SKCA-BR 14 24598198 24598198 insertion of <=200bp - AT downstream_gene_variant SKCM-US 14 24586911 24586911 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24586911 24586911 single base substitution C T downstream_gene_variant SKCM-US 14 24586911 24586911 single base substitution C T exon_variant SKCM-US 14 24586911 24586911 single base substitution C T intron_variant SKCM-US 14 24586911 24586911 single base substitution C T missense_variant S123F 368C>T SKCM-US 14 24586911 24586911 single base substitution C T missense_variant S149F 446C>T SKCM-US 14 24586911 24586911 single base substitution C T upstream_gene_variant SKCM-US 14 24586912 24586912 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24586912 24586912 single base substitution C T downstream_gene_variant SKCM-US 14 24586912 24586912 single base substitution C T exon_variant SKCM-US 14 24586912 24586912 single base substitution C T intron_variant SKCM-US 14 24586912 24586912 single base substitution C T synonymous_variant S123S 369C>T SKCM-US 14 24586912 24586912 single base substitution C T synonymous_variant S149S 447C>T SKCM-US 14 24586912 24586912 single base substitution C T upstream_gene_variant SKCM-US 14 24587348 24587348 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24587348 24587348 single base substitution C T downstream_gene_variant SKCM-US 14 24587348 24587348 single base substitution C T exon_variant SKCM-US 14 24587348 24587348 single base substitution C T intron_variant SKCM-US 14 24587348 24587348 single base substitution C T synonymous_variant F161F 483C>T SKCM-US 14 24587348 24587348 single base substitution C T synonymous_variant F187F 561C>T SKCM-US 14 24587348 24587348 single base substitution C T synonymous_variant F87F 261C>T SKCM-US 14 24587348 24587348 single base substitution C T upstream_gene_variant SKCM-US 14 24587609 24587609 single base substitution G A 3_prime_UTR_variant SKCM-US 14 24587609 24587609 single base substitution G A downstream_gene_variant SKCM-US 14 24587609 24587609 single base substitution G A exon_variant SKCM-US 14 24587609 24587609 single base substitution G A missense_variant R171Q 512G>A SKCM-US 14 24587609 24587609 single base substitution G A missense_variant R197Q 590G>A SKCM-US 14 24587609 24587609 single base substitution G A missense_variant R97Q 290G>A SKCM-US 14 24587609 24587609 single base substitution G A upstream_gene_variant SKCM-US 14 24587637 24587637 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24587637 24587637 single base substitution C T downstream_gene_variant SKCM-US 14 24587637 24587637 single base substitution C T exon_variant SKCM-US 14 24587637 24587637 single base substitution C T synonymous_variant F106F 318C>T SKCM-US 14 24587637 24587637 single base substitution C T synonymous_variant F180F 540C>T SKCM-US 14 24587637 24587637 single base substitution C T synonymous_variant F206F 618C>T SKCM-US 14 24587637 24587637 single base substitution C T upstream_gene_variant SKCM-US 14 24587638 24587638 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24587638 24587638 single base substitution C T downstream_gene_variant SKCM-US 14 24587638 24587638 single base substitution C T exon_variant SKCM-US 14 24587638 24587638 single base substitution C T missense_variant R107C 319C>T SKCM-US 14 24587638 24587638 single base substitution C T missense_variant R181C 541C>T SKCM-US 14 24587638 24587638 single base substitution C T missense_variant R207C 619C>T SKCM-US 14 24587638 24587638 single base substitution C T upstream_gene_variant SKCM-US 14 24588358 24588358 single base substitution G A 3_prime_UTR_variant SKCM-US 14 24588358 24588358 single base substitution G A downstream_gene_variant SKCM-US 14 24588358 24588358 single base substitution G A exon_variant SKCM-US 14 24588358 24588358 single base substitution G A missense_variant D162N 484G>A SKCM-US 14 24588358 24588358 single base substitution G A missense_variant D236N 706G>A SKCM-US 14 24588358 24588358 single base substitution G A missense_variant D262N 784G>A SKCM-US 14 24588358 24588358 single base substitution G A missense_variant D2N 4G>A SKCM-US 14 24588358 24588358 single base substitution G A upstream_gene_variant SKCM-US 14 24588383 24588383 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24588383 24588383 single base substitution C T downstream_gene_variant SKCM-US 14 24588383 24588383 single base substitution C T exon_variant SKCM-US 14 24588383 24588383 single base substitution C T missense_variant S10F 29C>T SKCM-US 14 24588383 24588383 single base substitution C T missense_variant S170F 509C>T SKCM-US 14 24588383 24588383 single base substitution C T missense_variant S244F 731C>T SKCM-US 14 24588383 24588383 single base substitution C T missense_variant S270F 809C>T SKCM-US 14 24588383 24588383 single base substitution C T upstream_gene_variant SKCM-US 14 24588419 24588419 single base substitution G C 3_prime_UTR_variant SKCM-US 14 24588419 24588419 single base substitution G C downstream_gene_variant SKCM-US 14 24588419 24588419 single base substitution G C exon_variant SKCM-US 14 24588419 24588419 single base substitution G C missense_variant G182A 545G>C SKCM-US 14 24588419 24588419 single base substitution G C missense_variant G22A 65G>C SKCM-US 14 24588419 24588419 single base substitution G C missense_variant G256A 767G>C SKCM-US 14 24588419 24588419 single base substitution G C missense_variant G282A 845G>C SKCM-US 14 24588419 24588419 single base substitution G C upstream_gene_variant SKCM-US 14 24588993 24588993 single base substitution G A 3_prime_UTR_variant SKCM-US 14 24588993 24588993 single base substitution G A downstream_gene_variant SKCM-US 14 24588993 24588993 single base substitution G A exon_variant SKCM-US 14 24588993 24588993 single base substitution G A missense_variant G227E 680G>A SKCM-US 14 24588993 24588993 single base substitution G A missense_variant G301E 902G>A SKCM-US 14 24588993 24588993 single base substitution G A missense_variant G327E 980G>A SKCM-US 14 24588993 24588993 single base substitution G A missense_variant G67E 200G>A SKCM-US 14 24588993 24588993 single base substitution G A upstream_gene_variant SKCM-US 14 24590046 24590046 single base substitution G A downstream_gene_variant SKCM-US 14 24590046 24590046 single base substitution G A splice_acceptor_variant SKCM-US 14 24590046 24590046 single base substitution G A upstream_gene_variant SKCM-US 14 24590118 24590118 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24590118 24590118 single base substitution C T downstream_gene_variant SKCM-US 14 24590118 24590118 single base substitution C T exon_variant SKCM-US 14 24590118 24590118 single base substitution C T synonymous_variant S128S 384C>T SKCM-US 14 24590118 24590118 single base substitution C T synonymous_variant S288S 864C>T SKCM-US 14 24590118 24590118 single base substitution C T synonymous_variant S362S 1086C>T SKCM-US 14 24590118 24590118 single base substitution C T synonymous_variant S388S 1164C>T SKCM-US 14 24590118 24590118 single base substitution C T upstream_gene_variant SKCM-US 14 24590593 24590593 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24590593 24590593 single base substitution C T downstream_gene_variant SKCM-US 14 24590593 24590593 single base substitution C T exon_variant SKCM-US 14 24590593 24590593 single base substitution C T synonymous_variant L162L 486C>T SKCM-US 14 24590593 24590593 single base substitution C T synonymous_variant L322L 966C>T SKCM-US 14 24590593 24590593 single base substitution C T synonymous_variant L396L 1188C>T SKCM-US 14 24590593 24590593 single base substitution C T synonymous_variant L422L 1266C>T SKCM-US 14 24590594 24590594 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24590594 24590594 single base substitution C T downstream_gene_variant SKCM-US 14 24590594 24590594 single base substitution C T exon_variant SKCM-US 14 24590594 24590594 single base substitution C T missense_variant P163S 487C>T SKCM-US 14 24590594 24590594 single base substitution C T missense_variant P323S 967C>T SKCM-US 14 24590594 24590594 single base substitution C T missense_variant P397S 1189C>T SKCM-US 14 24590594 24590594 single base substitution C T missense_variant P423S 1267C>T SKCM-US 14 24590600 24590600 single base substitution G A 3_prime_UTR_variant SKCM-US 14 24590600 24590600 single base substitution G A downstream_gene_variant SKCM-US 14 24590600 24590600 single base substitution G A exon_variant SKCM-US 14 24590600 24590600 single base substitution G A missense_variant D165N 493G>A SKCM-US 14 24590600 24590600 single base substitution G A missense_variant D325N 973G>A SKCM-US 14 24590600 24590600 single base substitution G A missense_variant D399N 1195G>A SKCM-US 14 24590600 24590600 single base substitution G A missense_variant D425N 1273G>A SKCM-US 14 24592188 24592188 single base substitution C T 3_prime_UTR_variant SKCM-US 14 24592188 24592188 single base substitution C T downstream_gene_variant SKCM-US 14 24592188 24592188 single base substitution C T exon_variant SKCM-US 14 24592188 24592188 single base substitution C T missense_variant L210F 628C>T SKCM-US 14 24592188 24592188 single base substitution C T missense_variant L370F 1108C>T SKCM-US 14 24592188 24592188 single base substitution C T missense_variant L444F 1330C>T SKCM-US 14 24592188 24592188 single base substitution C T missense_variant L470F 1408C>T STAD-US 14 24586179 24586179 single base substitution A G 5_prime_UTR_variant STAD-US 14 24586179 24586179 single base substitution A G downstream_gene_variant STAD-US 14 24586179 24586179 single base substitution A G exon_variant STAD-US 14 24586179 24586179 single base substitution A G intron_variant STAD-US 14 24586179 24586179 single base substitution A G missense_variant Q70R 209A>G STAD-US 14 24586179 24586179 single base substitution A G splice_acceptor_variant STAD-US 14 24586179 24586179 single base substitution A G synonymous_variant S62S 186A>G STAD-US 14 24586179 24586179 single base substitution A G upstream_gene_variant STAD-US 14 24587663 24587663 single base substitution G A 3_prime_UTR_variant STAD-US 14 24587663 24587663 single base substitution G A downstream_gene_variant STAD-US 14 24587663 24587663 single base substitution G A exon_variant STAD-US 14 24587663 24587663 single base substitution G A missense_variant R115H 344G>A STAD-US 14 24587663 24587663 single base substitution G A missense_variant R189H 566G>A STAD-US 14 24587663 24587663 single base substitution G A missense_variant R215H 644G>A STAD-US 14 24587663 24587663 single base substitution G A upstream_gene_variant STAD-US 14 24587991 24587991 single base substitution A G 3_prime_UTR_variant STAD-US 14 24587991 24587991 single base substitution A G downstream_gene_variant STAD-US 14 24587991 24587991 single base substitution A G exon_variant STAD-US 14 24587991 24587991 single base substitution A G missense_variant T153A 457A>G STAD-US 14 24587991 24587991 single base substitution A G missense_variant T227A 679A>G STAD-US 14 24587991 24587991 single base substitution A G missense_variant T253A 757A>G STAD-US 14 24587991 24587991 single base substitution A G upstream_gene_variant STAD-US 14 24588368 24588368 single base substitution G A 3_prime_UTR_variant STAD-US 14 24588368 24588368 single base substitution G A downstream_gene_variant STAD-US 14 24588368 24588368 single base substitution G A exon_variant STAD-US 14 24588368 24588368 single base substitution G A missense_variant R165H 494G>A STAD-US 14 24588368 24588368 single base substitution G A missense_variant R239H 716G>A STAD-US 14 24588368 24588368 single base substitution G A missense_variant R265H 794G>A STAD-US 14 24588368 24588368 single base substitution G A missense_variant R5H 14G>A STAD-US 14 24588368 24588368 single base substitution G A upstream_gene_variant STAD-US 14 24588791 24588791 single base substitution T G 3_prime_UTR_variant STAD-US 14 24588791 24588791 single base substitution T G downstream_gene_variant STAD-US 14 24588791 24588791 single base substitution T G exon_variant STAD-US 14 24588791 24588791 single base substitution T G missense_variant V191G 572T>G STAD-US 14 24588791 24588791 single base substitution T G missense_variant V265G 794T>G STAD-US 14 24588791 24588791 single base substitution T G missense_variant V291G 872T>G STAD-US 14 24588791 24588791 single base substitution T G missense_variant V31G 92T>G STAD-US 14 24588791 24588791 single base substitution T G upstream_gene_variant STAD-US 14 24589026 24589026 single base substitution G A 3_prime_UTR_variant STAD-US 14 24589026 24589026 single base substitution G A downstream_gene_variant STAD-US 14 24589026 24589026 single base substitution G A exon_variant STAD-US 14 24589026 24589026 single base substitution G A missense_variant R238H 713G>A STAD-US 14 24589026 24589026 single base substitution G A missense_variant R312H 935G>A STAD-US 14 24589026 24589026 single base substitution G A missense_variant R338H 1013G>A STAD-US 14 24589026 24589026 single base substitution G A missense_variant R78H 233G>A STAD-US 14 24589026 24589026 single base substitution G A upstream_gene_variant STAD-US 14 24589034 24589034 single base substitution C T 3_prime_UTR_variant STAD-US 14 24589034 24589034 single base substitution C T downstream_gene_variant STAD-US 14 24589034 24589034 single base substitution C T exon_variant STAD-US 14 24589034 24589034 single base substitution C T missense_variant R241W 721C>T STAD-US 14 24589034 24589034 single base substitution C T missense_variant R315W 943C>T STAD-US 14 24589034 24589034 single base substitution C T missense_variant R341W 1021C>T STAD-US 14 24589034 24589034 single base substitution C T missense_variant R81W 241C>T STAD-US 14 24589034 24589034 single base substitution C T upstream_gene_variant STAD-US 14 24590142 24590142 single base substitution A G 3_prime_UTR_variant STAD-US 14 24590142 24590142 single base substitution A G downstream_gene_variant STAD-US 14 24590142 24590142 single base substitution A G exon_variant STAD-US 14 24590142 24590142 single base substitution A G synonymous_variant S136S 408A>G STAD-US 14 24590142 24590142 single base substitution A G synonymous_variant S296S 888A>G STAD-US 14 24590142 24590142 single base substitution A G synonymous_variant S370S 1110A>G STAD-US 14 24590142 24590142 single base substitution A G synonymous_variant S396S 1188A>G STAD-US 14 24590142 24590142 single base substitution A G upstream_gene_variant STAD-US 14 24590651 24590651 single base substitution C T 3_prime_UTR_variant STAD-US 14 24590651 24590651 single base substitution C T downstream_gene_variant STAD-US 14 24590651 24590651 single base substitution C T exon_variant STAD-US 14 24590651 24590651 single base substitution C T missense_variant R182C 544C>T STAD-US 14 24590651 24590651 single base substitution C T missense_variant R342C 1024C>T STAD-US 14 24590651 24590651 single base substitution C T missense_variant R416C 1246C>T STAD-US 14 24590651 24590651 single base substitution C T missense_variant R442C 1324C>T UCEC-US 14 24586201 24586201 single base substitution A G 5_prime_UTR_variant UCEC-US 14 24586201 24586201 single base substitution A G downstream_gene_variant UCEC-US 14 24586201 24586201 single base substitution A G exon_variant UCEC-US 14 24586201 24586201 single base substitution A G intron_variant UCEC-US 14 24586201 24586201 single base substitution A G missense_variant K59R 176A>G UCEC-US 14 24586201 24586201 single base substitution A G synonymous_variant E51E 153A>G UCEC-US 14 24586201 24586201 single base substitution A G synonymous_variant E77E 231A>G UCEC-US 14 24586201 24586201 single base substitution A G upstream_gene_variant UCEC-US 14 24586589 24586589 single base substitution G A 3_prime_UTR_variant UCEC-US 14 24586589 24586589 single base substitution G A downstream_gene_variant UCEC-US 14 24586589 24586589 single base substitution G A exon_variant UCEC-US 14 24586589 24586589 single base substitution G A intron_variant UCEC-US 14 24586589 24586589 single base substitution G A missense_variant E115K 343G>A UCEC-US 14 24586589 24586589 single base substitution G A missense_variant E55K 163G>A UCEC-US 14 24586589 24586589 single base substitution G A missense_variant R107Q 320G>A UCEC-US 14 24586589 24586589 single base substitution G A missense_variant R133Q 398G>A UCEC-US 14 24586589 24586589 single base substitution G A upstream_gene_variant UCEC-US 14 24587663 24587663 single base substitution G A 3_prime_UTR_variant UCEC-US 14 24587663 24587663 single base substitution G A downstream_gene_variant UCEC-US 14 24587663 24587663 single base substitution G A exon_variant UCEC-US 14 24587663 24587663 single base substitution G A missense_variant R115H 344G>A UCEC-US 14 24587663 24587663 single base substitution G A missense_variant R189H 566G>A UCEC-US 14 24587663 24587663 single base substitution G A missense_variant R215H 644G>A UCEC-US 14 24587663 24587663 single base substitution G A upstream_gene_variant UCEC-US 14 24588814 24588814 single base substitution C T 3_prime_UTR_variant UCEC-US 14 24588814 24588814 single base substitution C T downstream_gene_variant UCEC-US 14 24588814 24588814 single base substitution C T exon_variant UCEC-US 14 24588814 24588814 single base substitution C T missense_variant R199C 595C>T UCEC-US 14 24588814 24588814 single base substitution C T missense_variant R273C 817C>T UCEC-US 14 24588814 24588814 single base substitution C T missense_variant R299C 895C>T UCEC-US 14 24588814 24588814 single base substitution C T missense_variant R39C 115C>T UCEC-US 14 24588814 24588814 single base substitution C T upstream_gene_variant UCEC-US 14 24588955 24588955 single base substitution C A 3_prime_UTR_variant UCEC-US 14 24588955 24588955 single base substitution C A downstream_gene_variant UCEC-US 14 24588955 24588955 single base substitution C A exon_variant UCEC-US 14 24588955 24588955 single base substitution C A synonymous_variant A214A 642C>A UCEC-US 14 24588955 24588955 single base substitution C A synonymous_variant A288A 864C>A UCEC-US 14 24588955 24588955 single base substitution C A synonymous_variant A314A 942C>A UCEC-US 14 24588955 24588955 single base substitution C A synonymous_variant A54A 162C>A UCEC-US 14 24588955 24588955 single base substitution C A upstream_gene_variant UCEC-US 14 24589035 24589035 single base substitution G A 3_prime_UTR_variant UCEC-US 14 24589035 24589035 single base substitution G A downstream_gene_variant UCEC-US 14 24589035 24589035 single base substitution G A exon_variant UCEC-US 14 24589035 24589035 single base substitution G A missense_variant R241Q 722G>A UCEC-US 14 24589035 24589035 single base substitution G A missense_variant R315Q 944G>A UCEC-US 14 24589035 24589035 single base substitution G A missense_variant R341Q 1022G>A UCEC-US 14 24589035 24589035 single base substitution G A missense_variant R81Q 242G>A UCEC-US 14 24589035 24589035 single base substitution G A upstream_gene_variant UCEC-US 14 24590580 24590580 single base substitution G A 3_prime_UTR_variant UCEC-US 14 24590580 24590580 single base substitution G A downstream_gene_variant UCEC-US 14 24590580 24590580 single base substitution G A exon_variant UCEC-US 14 24590580 24590580 single base substitution G A missense_variant R158Q 473G>A UCEC-US 14 24590580 24590580 single base substitution G A missense_variant R318Q 953G>A UCEC-US 14 24590580 24590580 single base substitution G A missense_variant R392Q 1175G>A UCEC-US 14 24590580 24590580 single base substitution G A missense_variant R418Q 1253G>A UCEC-US 14 24590630 24590630 single base substitution G A 3_prime_UTR_variant UCEC-US 14 24590630 24590630 single base substitution G A downstream_gene_variant UCEC-US 14 24590630 24590630 single base substitution G A exon_variant UCEC-US 14 24590630 24590630 single base substitution G A missense_variant G175R 523G>A UCEC-US 14 24590630 24590630 single base substitution G A missense_variant G335R 1003G>A UCEC-US 14 24590630 24590630 single base substitution G A missense_variant G409R 1225G>A UCEC-US 14 24590630 24590630 single base substitution G A missense_variant G435R 1303G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-4361-01 COSM4050165 c.757A>G p.T253A Substitution - Missense 14:24118782-24118782 + LUAD-S01315 COSM344283 c.229G>T p.E77* Substitution - Nonsense 14:24116990-24116990 + BD174T COSM5521382 c.1260G>A p.L420L Substitution - coding silent 14:24121378-24121378 + TCGA-FW-A3TV-06 COSM3495342 c.1267C>T p.P423S Substitution - Missense 14:24121385-24121385 + 2492729 COSM5726150 c.847G>A p.G283R Substitution - Missense 14:24119212-24119212 + 587222 COSM1203037 c.108G>T p.E36D Substitution - Missense 14:24115702-24115702 + T2950 COSM4676313 c.1355G>A p.G452D Substitution - Missense 14:24121473-24121473 + CSCC-27-T COSM4505986 c.707C>T p.S236F Substitution - Missense 14:24118517-24118517 + TCGA-DR-A0ZM-01 COSM459188 c.922G>C p.D308H Substitution - Missense 14:24119726-24119726 + TCGA-29-1775-01 COSM1323539 c.1460G>C p.R487P Substitution - Missense 14:24123031-24123031 + HCC170T COSM3706219 c.665T>A p.L222* Substitution - Nonsense 14:24118475-24118475 + pfg068T COSM4751344 c.305G>A p.R102Q Substitution - Missense 14:24117287-24117287 + Case5a COSM1717260 c.209A>T p.Q70L Substitution - Missense 14:24116970-24116970 + I2L-P19Tb-Tumor-Biopsy COSM5362516 c.1630T>A p.S544T Substitution - Missense 14:24123298-24123298 + PTC-7C COSM4148029 c.620G>A p.R207H Substitution - Missense 14:24118430-24118430 + TCGA-B0-5699-01 COSM469841 c.714G>C p.W238C Substitution - Missense 14:24118524-24118524 + SNUH_G76_S1 COSM4148029 c.620G>A p.R207H Substitution - Missense 14:24118430-24118430 + 0127_CRUK_PC_0127_T1_DNA COSM5422033 c.508A>G p.S170G Substitution - Missense 14:24118086-24118086 + Pat_41_B COSM5847903 c.337G>A p.V113M Substitution - Missense 14:24117319-24117319 + ESCC_80 COSM5635750 c.537C>A p.I179I Substitution - coding silent 14:24118115-24118115 + Pat_41_B COSM5847906 c.1472G>A p.W491* Substitution - Nonsense 14:24123043-24123043 + T12 COSM5342441 c.714G>A p.W238* Substitution - Nonsense 14:24118524-24118524 + PD8609a COSM174708 c.1505C>T p.S502L Substitution - Missense 14:24123076-24123076 + PT42 COSM5925785 c.1339C>T p.P447S Substitution - Missense 14:24121457-24121457 + YUNACK COSM1707220 c.446_447CC>TT p.S149F Substitution - Missense 14:24117702-24117703 + SC_9083 COSM5552974 c.53A>G p.E18G Substitution - Missense 14:24115647-24115647 + TCGA-A3-3365-01 COSM1493250 c.725-2A>T p.? Unknown 14:24118748-24118748 + ESCC-F75 COSM5048546 c.65G>A p.R22Q Substitution - Missense 14:24115659-24115659 + TCGA-02-2483-01 COSM3401253 c.913T>C p.S305P Substitution - Missense 14:24119717-24119717 + 2334201 COSM319804 c.35G>T p.G12V Substitution - Missense 14:24115629-24115629 + TCGA-A5-A0GH-01 COSM954887 c.1022G>A p.R341Q Substitution - Missense 14:24119826-24119826 + TCGA-A3-3320-01 COSM1493250 c.725-2A>T p.? Unknown 14:24118748-24118748 + PTC-28C COSM4148031 c.1093G>A p.G365S Substitution - Missense 14:24120838-24120838 + TCGA-D5-6928-01 COSM1369286 c.1013G>A p.R338H Substitution - Missense 14:24119817-24119817 + TCGA-D5-6898-01 COSM5164516 c.780-1G>T p.? Unknown 14:24119144-24119144 + TCGA-BP-4795-01 COSM954889 c.1303G>A p.G435R Substitution - Missense 14:24121421-24121421 + YUSCA COSM5382131 c.727C>T p.H243Y Substitution - Missense 14:24118752-24118752 + TCGA-CK-4952-01 COSM5153745 c.33C>T p.S11S Substitution - coding silent 14:24115627-24115627 + TCGA-AC-A23H-01 COSM3814591 c.980G>C p.G327A Substitution - Missense 14:24119784-24119784 + TCGA-EE-A2GJ-06 COSM3495335 c.784G>A p.D262N Substitution - Missense 14:24119149-24119149 + TCGA-EE-A2GO-06 COSM3495336 c.809C>T p.S270F Substitution - Missense 14:24119174-24119174 + TCGA-EE-A29R-06 COSM3495340 c.1164C>T p.S388S Substitution - coding silent 14:24120909-24120909 + AOCS-107-1-4 COSM3983204 c.284T>G p.V95G Substitution - Missense 14:24117266-24117266 + TCGA-B8-5159-01 COSM469842 c.780G>C p.R260S Substitution - Missense 14:24119145-24119145 + TCGA-EB-A44Q-06 COSM3495343 c.1273G>A p.D425N Substitution - Missense 14:24121391-24121391 + VLTS-4 COSM5702699 c.793C>T p.R265C Substitution - Missense 14:24119158-24119158 + BD236T COSM4751345 c.376G>A p.A126T Substitution - Missense 14:24117358-24117358 + TCGA-D1-A163-01 COSM954889 c.1303G>A p.G435R Substitution - Missense 14:24121421-24121421 + TCGA-AO-A128-01 COSM3814590 c.655T>C p.W219R Substitution - Missense 14:24118465-24118465 + TCGA-BR-8372-01 COSM4050164 c.209A>G p.Q70R Substitution - Missense 14:24116970-24116970 + TCGA-F1-6874-01 COSM4050167 c.872T>G p.V291G Substitution - Missense 14:24119582-24119582 + C10 COSM2032530 c.611G>A p.G204D Substitution - Missense 14:24118421-24118421 + TCGA-D3-A1QA-06 COSM3495344 c.1408C>T p.L470F Substitution - Missense 14:24122979-24122979 + TCGA-AD-6895-01 COSM1369287 c.1331G>A p.R444Q Substitution - Missense 14:24121449-24121449 + HCC170 COSM3706219 c.665T>A p.L222* Substitution - Nonsense 14:24118475-24118475 + TCGA-EE-A3J5-06 COSM3495331 c.446C>T p.S149F Substitution - Missense 14:24117702-24117702 + TCGA-EE-A2A2-06 COSM3495333 c.618C>T p.F206F Substitution - coding silent 14:24118428-24118428 + CHC892T COSM4796371 c.422G>A p.G141D Substitution - Missense 14:24117678-24117678 + TCGA-D9-A6EA-06 COSM4398005 c.561C>T p.F187F Substitution - coding silent 14:24118139-24118139 + TCGA-AA-3877-01 COSM296473 c.397C>T p.R133* Substitution - Nonsense 14:24117379-24117379 + 084T COSM1730995 c.477-1G>A p.? Unknown 14:24118054-24118054 + PT37 COSM109565 c.1628C>T p.S543F Substitution - Missense 14:24123296-24123296 + TCGA-FS-A1ZK-06 COSM3495339 c.1093-1G>A p.? Unknown 14:24120837-24120837 + pfg181T COSM4751345 c.376G>A p.A126T Substitution - Missense 14:24117358-24117358 + CHEWS035 COSM4577795 c.1400-2A>G p.? Unknown 14:24122969-24122969 + EGC3 COSM2032540 c.1156C>T p.R386C Substitution - Missense 14:24120901-24120901 + SNUH_G76_S1 COSM4148030 c.648C>T p.D216D Substitution - coding silent 14:24118458-24118458 + HX19T COSM3746348 c.78C>G p.G26G Substitution - coding silent 14:24115672-24115672 + I2L-P19Tb-Tumor-Organoid COSM5362516 c.1630T>A p.S544T Substitution - Missense 14:24123298-24123298 + CHC892T COSM4796371 c.422G>A p.G141D Substitution - Missense 14:24117678-24117678 + TCGA-BT-A3PK-01 COSM3793603 c.802G>C p.V268L Substitution - Missense 14:24119167-24119167 + ESCC-D8 COSM5046534 c.854A>G p.N285S Substitution - Missense 14:24119564-24119564 + TCGA-AA-3966-01 COSM272568 c.984T>C p.D328D Substitution - coding silent 14:24119788-24119788 + 46M COSM5587596 c.82C>T p.R28C Substitution - Missense 14:24115676-24115676 + TCGA-HU-A4H3-01 COSM4050170 c.1324C>T p.R442C Substitution - Missense 14:24121442-24121442 + TCGA-B5-A11H-01 COSM954882 c.231A>G p.E77E Substitution - coding silent 14:24116992-24116992 + PTC-7C COSM4148030 c.648C>T p.D216D Substitution - coding silent 14:24118458-24118458 + TCGA-ER-A19F-06 COSM3495334 c.619C>T p.R207C Substitution - Missense 14:24118429-24118429 + 1517_PT COSM5754565 c.1473G>A p.W491* Substitution - Nonsense 14:24123044-24123044 + CSCC-31-T COSM4512386 c.900C>T p.T300T Substitution - coding silent 14:24119610-24119610 + TCGA-G4-6302-01 COSM3690040 c.533G>A p.G178D Substitution - Missense 14:24118111-24118111 + PCSI_0083_Pa_X COSM3786235 c.1590C>T p.S530S Substitution - coding silent 14:24123258-24123258 + T2932 COSM4676312 c.1325G>A p.R442H Substitution - Missense 14:24121443-24121443 + LAU63 COSM235569 c.447C>T p.S149S Substitution - coding silent 14:24117703-24117703 + TCGA-AP-A059-01 COSM954886 c.942C>A p.A314A Substitution - coding silent 14:24119746-24119746 + BD135T COSM5516662 c.1330C>T p.R444W Substitution - Missense 14:24121448-24121448 + TCGA-D5-6928-01 COSM1369288 c.1586C>T p.A529V Substitution - Missense 14:24123254-24123254 + YUSMI COSM5382130 c.268C>T p.R90* Substitution - Nonsense 14:24117029-24117029 + TCGA-BR-8381-01 COSM954884 c.644G>A p.R215H Substitution - Missense 14:24118454-24118454 + TCGA-BH-A0C7-01 COSM432932 c.265G>T p.D89Y Substitution - Missense 14:24117026-24117026 + TCGA-D1-A15X-01 COSM954884 c.644G>A p.R215H Substitution - Missense 14:24118454-24118454 + 3N02-VS-3T02 COSM4978433 c.1169G>A p.R390Q Substitution - Missense 14:24120914-24120914 + TCGA-BR-4368-01 COSM1369286 c.1013G>A p.R338H Substitution - Missense 14:24119817-24119817 + C135 COSM4617513 c.1487A>T p.E496V Substitution - Missense 14:24123058-24123058 + LUAD-YINHD COSM348916 c.834A>G p.R278R Substitution - coding silent 14:24119199-24119199 + HCC062T COSM5820863 c.367A>T p.R123W Substitution - Missense 14:24117349-24117349 + TCGA-UB-A7MB-01 COSM4932686 c.262G>T p.G88W Substitution - Missense 14:24117023-24117023 + TCGA-BR-4361-01 COSM4050169 c.1188A>G p.S396S Substitution - coding silent 14:24120933-24120933 + 91T COSM108762 c.892C>T p.R298W Substitution - Missense 14:24119602-24119602 + TCGA-GM-A3XL-01 COSM3814592 c.1130A>G p.Q377R Substitution - Missense 14:24120875-24120875 + TCGA-BP-4985-01 COSM469843 c.1378T>A p.C460S Substitution - Missense 14:24121496-24121496 + TCGA-CA-6718-01 COSM1369285 c.204C>A p.F68L Substitution - Missense 14:24116965-24116965 + Pat_06_A COSM5847905 c.1048G>A p.A350T Substitution - Missense 14:24119852-24119852 + sysucc-882T COSM5447104 c.1627T>C p.S543P Substitution - Missense 14:24123295-24123295 + TCGA-A3-3363-01 COSM1493250 c.725-2A>T p.? Unknown 14:24118748-24118748 + LUAD-S01409 COSM346396 c.1042G>T p.V348L Substitution - Missense 14:24119846-24119846 + HT115 COSM2032541 c.1157G>A p.R386H Substitution - Missense 14:24120902-24120902 + TCGA-FR-A3YN-06 COSM3495338 c.980G>A p.G327E Substitution - Missense 14:24119784-24119784 + LUAD-NYU584S COSM375198 c.1416T>G p.S472R Substitution - Missense 14:24122987-24122987 + TCGA-C8-A274-01 COSM1477497 c.426C>T p.L142L Substitution - coding silent 14:24117682-24117682 + CSCC-62-T COSM235569 c.447C>T p.S149S Substitution - coding silent 14:24117703-24117703 + 91T COSM109565 c.1628C>T p.S543F Substitution - Missense 14:24123296-24123296 + TCGA-FW-A3R5-06 COSM3495342 c.1267C>T p.P423S Substitution - Missense 14:24121385-24121385 + TCGA-AN-A046-01 COSM3814589 c.121G>T p.D41Y Substitution - Missense 14:24115715-24115715 + TCGA-AX-A05Z-01 COSM954883 c.398G>A p.R133Q Substitution - Missense 14:24117380-24117380 + TCGA-DK-A3IK-01 COSM1300529 c.50C>G p.S17C Substitution - Missense 14:24115644-24115644 + ESCC-F94 COSM5049175 c.419G>A p.R140Q Substitution - Missense 14:24117675-24117675 + YUKAT COSM5382132 c.1206G>T p.Q402H Substitution - Missense 14:24120951-24120951 + YUROG COSM5382129 c.91G>T p.E31* Substitution - Nonsense 14:24115685-24115685 + PCSI_0083_Pa_P_526 COSM3786235 c.1590C>T p.S530S Substitution - coding silent 14:24123258-24123258 + TCGA-CG-5721-01 COSM4050166 c.794G>A p.R265H Substitution - Missense 14:24119159-24119159 + TCGA-AP-A0LM-01 COSM954885 c.895C>T p.R299C Substitution - Missense 14:24119605-24119605 + ACINAR03 COSM1369286 c.1013G>A p.R338H Substitution - Missense 14:24119817-24119817 + TCGA-C8-A274-01 COSM1477498 c.517C>T p.Q173* Substitution - Nonsense 14:24118095-24118095 + CHEWS019 COSM4577794 c.385C>A p.H129N Substitution - Missense 14:24117367-24117367 + MOLT-4 COSM1677903 c.1009C>T p.R337* Substitution - Nonsense 14:24119813-24119813 + P09-120 COSM243963 c.731T>A p.I244N Substitution - Missense 14:24118756-24118756 + STC246 COSM4050166 c.794G>A p.R265H Substitution - Missense 14:24119159-24119159 + 038T COSM1728738 c.800C>T p.A267V Substitution - Missense 14:24119165-24119165 + TCGA-EE-A2MR-06 COSM3495341 c.1266C>T p.L422L Substitution - coding silent 14:24121384-24121384 + TCGA-EE-A29C-06 COSM235569 c.447C>T p.S149S Substitution - coding silent 14:24117703-24117703 + TCGA-GN-A26C-01 COSM3495334 c.619C>T p.R207C Substitution - Missense 14:24118429-24118429 + TCGA-ER-A19C-06 COSM3495332 c.590G>A p.R197Q Substitution - Missense 14:24118400-24118400 + Pat_66_A COSM5847904 c.614G>A p.R205H Substitution - Missense 14:24118424-24118424 + TCGA-A5-A0VQ-01 COSM954888 c.1253G>A p.R418Q Substitution - Missense 14:24121371-24121371 + YUMER COSM1707219 c.340G>A p.E114K Substitution - Missense 14:24117322-24117322 + SNU-C4 COSM4652474 c.236A>G p.N79S Substitution - Missense 14:24116997-24116997 + TCGA-D3-A2JD-06 COSM3495337 c.845G>C p.G282A Substitution - Missense 14:24119210-24119210 + YUWAND COSM1707218 c.197T>C p.L66S Substitution - Missense 14:24116958-24116958 + TCGA-BR-8361-01 COSM4050168 c.1021C>T p.R341W Substitution - Missense 14:24119825-24119825 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.525251 14q11.2 613317

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AC Nonsense p.Y457*fs*1 c.1370_1371insAC 14 24590697 RCCC A G Synonymous p.E77E c.231A>G 14 24586201 UCEC C G Missense p.S17C c.50C>G 14 24584853 BLCA C T IntronicSNV . c.725-42C>T 14 24587917 CM C T IntronicSNV . c.780-95C>T 14 24588259 CM C T Missense p.L470F c.1408C>T 14 24592188 CM C T Missense p.P99S c.295C>T 14 24586486 BRCA C T Missense p.S149F c.446C>T 14 24586911 CM C T Missense p.S270F c.809C>T 14 24588383 CM C T Nonsense p.Q173* c.517C>T 14 24587304 BRCA C T Nonsense p.R90* c.268C>T 14 24586238 CM C T Synonymous p.F206F c.618C>T 14 24587637 CM C T Synonymous p.L142L c.426C>T 14 24586891 BRCA C T Synonymous p.S149S c.447C>T 14 24586912 CM C T Synonymous p.S388S c.1164C>T 14 24590118 CM G A Missense p.D262N c.784G>A 14 24588358 CM G A Missense p.G204D c.611G>A 14 24587630 LUAD G A Missense p.G282E c.845G>A 14 24588419 BRCA G A Missense p.G435R c.1303G>A 14 24590630 UCEC G A Missense p.R197Q c.590G>A 14 24587609 CM G A Missense p.R338H c.1013G>A 14 24589026 STAD G A Missense p.R341Q c.1022G>A 14 24589035 UCEC G A Missense p.R418Q c.1253G>A 14 24590580 UCEC G A SpliceAcceptorSNV . c.1093-1G>A 14 24590046 CM G C Missense p.G282A c.845G>C 14 24588419 CM G C Missense p.R260S c.780G>C 14 24588354 RCCC G C Missense p.V268L c.802G>C 14 24588376 BLCA G C Missense p.W238C c.714G>C 14 24587733 RCCC G T Missense p.D89Y c.265G>T 14 24586235 BRCA G T Missense p.G12V c.35G>T 14 24584838 SCLC G T Missense p.V58L c.172G>T 14 24586142 LUAD T A Missense p.C460S c.1378T>A 14 24590705 RCCC T C Missense p.S305P c.913T>C 14 24588926 GBM T G Missense p.V291G c.872T>G 14 24588791 STAD