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 5037202 5037202 + Silent SNP G G A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr17:5037202G>A c.405G>A c.(403-405)aaG>aaA p.K135K BLCA 17 5037247 5037247 + Silent SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr17:5037247G>A c.450G>A c.(448-450)acG>acA p.T150T BLCA 17 5038544 5038544 + Missense_Mutation SNP C C G TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chr17:5038544C>G c.510C>G c.(508-510)ttC>ttG p.F170L BLCA 17 5039177 5039177 + Silent SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr17:5039177C>T c.618C>T c.(616-618)ttC>ttT p.F206F BLCA 17 5039969 5039969 + Silent SNP G G C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr17:5039969G>C c.699G>C c.(697-699)ggG>ggC p.G233G BLCA 17 5041030 5041030 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr17:5041030C>G c.910C>G c.(910-912)Ctt>Gtt p.L304V BLCA 17 5041507 5041507 + Silent SNP C C T TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr17:5041507C>T c.1017C>T c.(1015-1017)ctC>ctT p.L339L BLCA 17 5042639 5042639 + Missense_Mutation SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr17:5042639C>G c.1168C>G c.(1168-1170)Cca>Gca p.P390A BLCA 17 5045423 5045423 + Missense_Mutation SNP T T G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:5045423T>G c.1699T>G c.(1699-1701)Tat>Gat p.Y567D BLCA 17 5048806 5048806 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:5048806G>A c.2099G>A c.(2098-2100)cGa>cAa p.R700Q BLCA 17 5058719 5058719 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:5058719G>A c.2646G>A c.(2644-2646)atG>atA p.M882I BLCA 17 5058888 5058888 + Missense_Mutation SNP C C A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr17:5058888C>A c.2815C>A c.(2815-2817)Cat>Aat p.H939N BLCA 17 5071275 5071275 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr17:5071275G>A c.3085G>A c.(3085-3087)Gag>Aag p.E1029K BLCA 17 5073859 5073859 + Silent SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:5073859G>A c.3603G>A c.(3601-3603)ggG>ggA p.G1201G BLCA 17 5074102 5074102 + Silent SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr17:5074102C>T c.3846C>T c.(3844-3846)ggC>ggT p.G1282G BLCA 17 5076100 5076100 + Splice_Site SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:5076100G>A c.4048G>A c.(4048-4050)Gaa>Aaa p.E1350K BRCA 17 5036239 5036239 + Missense_Mutation SNP G G T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 g.chr17:5036239G>T c.230G>T c.(229-231)tGg>tTg p.W77L BRCA 17 5039177 5039177 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr17:5039177C>G c.618C>G c.(616-618)ttC>ttG p.F206L BRCA 17 5048769 5048769 + Nonsense_Mutation SNP C C T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 g.chr17:5048769C>T c.2062C>T c.(2062-2064)Caa>Taa p.Q688* BRCA 17 5071409 5071409 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr17:5071409A>C c.3219A>C c.(3217-3219)ccA>ccC p.P1073P BRCA 17 5072193 5072193 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr17:5072193T>C c.3360T>C c.(3358-3360)caT>caC p.H1120H BRCA 17 5072218 5072218 + Missense_Mutation SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 g.chr17:5072218G>A c.3385G>A c.(3385-3387)Gag>Aag p.E1129K CESC 17 5037191 5037191 + Nonsense_Mutation SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 g.chr17:5037191G>T c.394G>T c.(394-396)Gag>Tag p.E132* CESC 17 5045313 5045313 + Missense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 g.chr17:5045313G>T c.1589G>T c.(1588-1590)gGa>gTa p.G530V CESC 17 5072095 5072095 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr17:5072095G>C c.3262G>C c.(3262-3264)Gat>Cat p.D1088H CESC 17 5076112 5076112 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr17:5076112G>C c.4060G>C c.(4060-4062)Gat>Cat p.D1354H CHOL 17 5040990 5040990 + Silent SNP G G T TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr17:5040990G>T c.870G>T c.(868-870)gtG>gtT p.V290V COAD 17 5033939 5033939 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:5033939G>A c.115G>A c.(115-117)Gtt>Att p.V39I COAD 17 5036765 5036765 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr17:5036765C>T c.304C>T c.(304-306)Ccc>Tcc p.P102S COAD 17 5039115 5039115 + Missense_Mutation SNP T T C TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:5039115T>C c.556T>C c.(556-558)Tgc>Cgc p.C186R COAD 17 5041492 5041492 + Silent SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:5041492C>T c.1002C>T c.(1000-1002)aaC>aaT p.N334N COAD 17 5048806 5048806 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:5048806G>A c.2099G>A c.(2098-2100)cGa>cAa p.R700Q COAD 17 5058812 5058812 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:5058812G>T c.2739G>T c.(2737-2739)aaG>aaT p.K913N COAD 17 5058843 5058843 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:5058843G>T c.2770G>T c.(2770-2772)Gta>Tta p.V924L COAD 17 5066284 5066284 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:5066284A>C c.3021A>C c.(3019-3021)caA>caC p.Q1007H COAD 17 5071260 5071260 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:5071260C>T c.3070C>T c.(3070-3072)Cgg>Tgg p.R1024W COAD 17 5072213 5072213 + Missense_Mutation SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr17:5072213G>A c.3380G>A c.(3379-3381)gGg>gAg p.G1127E COAD 17 5072276 5072276 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:5072276C>T c.3443C>T c.(3442-3444)tCg>tTg p.S1148L COAD 17 5072277 5072277 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:5072277G>A c.3444G>A c.(3442-3444)tcG>tcA p.S1148S COAD 17 5073954 5073954 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:5073954C>A c.3698C>A c.(3697-3699)gCt>gAt p.A1233D COAD 17 5074046 5074046 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:5074046G>A c.3790G>A c.(3790-3792)Gta>Ata p.V1264I COADREAD 17 5033939 5033939 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:5033939G>A c.115G>A c.(115-117)Gtt>Att p.V39I COADREAD 17 5033955 5033955 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:5033955G>A c.131G>A c.(130-132)aGc>aAc p.S44N COADREAD 17 5036765 5036765 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr17:5036765C>T c.304C>T c.(304-306)Ccc>Tcc p.P102S COADREAD 17 5039115 5039115 + Missense_Mutation SNP T T C TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:5039115T>C c.556T>C c.(556-558)Tgc>Cgc p.C186R COADREAD 17 5041492 5041492 + Silent SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:5041492C>T c.1002C>T c.(1000-1002)aaC>aaT p.N334N COADREAD 17 5041528 5041528 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:5041528G>A c.1038G>A c.(1036-1038)acG>acA p.T346T COADREAD 17 5048806 5048806 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:5048806G>A c.2099G>A c.(2098-2100)cGa>cAa p.R700Q COADREAD 17 5051946 5051946 + Missense_Mutation SNP A A G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr17:5051946A>G c.2527A>G c.(2527-2529)Act>Gct p.T843A COADREAD 17 5058812 5058812 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:5058812G>T c.2739G>T c.(2737-2739)aaG>aaT p.K913N COADREAD 17 5058843 5058843 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:5058843G>T c.2770G>T c.(2770-2772)Gta>Tta p.V924L COADREAD 17 5058851 5058851 + Nonsense_Mutation SNP G G A TCGA-AG-3583-01A-01W-0831-10 TCGA-AG-3583-10A-01W-0831-10 g.chr17:5058851G>A c.2778G>A c.(2776-2778)tgG>tgA p.W926* COADREAD 17 5066284 5066284 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:5066284A>C c.3021A>C c.(3019-3021)caA>caC p.Q1007H COADREAD 17 5071260 5071260 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:5071260C>T c.3070C>T c.(3070-3072)Cgg>Tgg p.R1024W COADREAD 17 5072213 5072213 + Missense_Mutation SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr17:5072213G>A c.3380G>A c.(3379-3381)gGg>gAg p.G1127E COADREAD 17 5072276 5072276 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:5072276C>T c.3443C>T c.(3442-3444)tCg>tTg p.S1148L COADREAD 17 5072277 5072277 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:5072277G>A c.3444G>A c.(3442-3444)tcG>tcA p.S1148S COADREAD 17 5073800 5073800 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:5073800G>T c.3544G>T c.(3544-3546)Gga>Tga p.G1182* COADREAD 17 5073936 5073936 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:5073936C>T c.3680C>T c.(3679-3681)gCc>gTc p.A1227V COADREAD 17 5073954 5073954 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr17:5073954C>A c.3698C>A c.(3697-3699)gCt>gAt p.A1233D COADREAD 17 5074046 5074046 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:5074046G>A c.3790G>A c.(3790-3792)Gta>Ata p.V1264I DLBC 17 5039138 5039138 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:5039138C>T c.579C>T c.(577-579)acC>acT p.T193T DLBC 17 5039138 5039138 + Silent SNP C C T TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr17:5039138C>T c.579C>T c.(577-579)acC>acT p.T193T DLBC 17 5049419 5049419 + Missense_Mutation SNP C C G TCGA-FF-8047-01A-11D-2210-10 TCGA-FF-8047-10A-01D-2210-10 g.chr17:5049419C>G c.2269C>G c.(2269-2271)Ctt>Gtt p.L757V ESCA 17 5042962 5042962 + Silent SNP C C T TCGA-L5-A43I-01A-11D-A247-09 TCGA-L5-A43I-11A-11D-A247-09 g.chr17:5042962C>T c.1491C>T c.(1489-1491)tgC>tgT p.C497C ESCA 17 5066217 5066217 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 g.chr17:5066217G>A c.2954G>A c.(2953-2955)aGa>aAa p.R985K ESCA 17 5072078 5072078 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 g.chr17:5072078G>A c.3245G>A c.(3244-3246)cGa>cAa p.R1082Q GBM 17 5037198 5037198 + Missense_Mutation SNP G G A TCGA-28-5207-01A-01D-1486-08 TCGA-28-5207-10A-01D-1486-08 g.chr17:5037198G>A c.401G>A c.(400-402)gGc>gAc p.G134D GBM 17 5037255 5037255 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 g.chr17:5037255G>A c.458G>A c.(457-459)cGg>cAg p.R153Q GBM 17 5042663 5042663 + Missense_Mutation SNP C C T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr17:5042663C>T c.1192C>T c.(1192-1194)Cgg>Tgg p.R398W GBM 17 5042870 5042870 + Missense_Mutation SNP T T A TCGA-41-2573-01A-01D-1495-08 TCGA-41-2573-10A-01D-1495-08 g.chr17:5042870T>A c.1399T>A c.(1399-1401)Tgg>Agg p.W467R GBM 17 5050405 5050405 + Nonsense_Mutation SNP C C T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 g.chr17:5050405C>T c.2347C>T c.(2347-2349)Caa>Taa p.Q783* GBMLGG 17 5037198 5037198 + Missense_Mutation SNP G G A TCGA-28-5207-01A-01D-1486-08 TCGA-28-5207-10A-01D-1486-08 g.chr17:5037198G>A c.401G>A c.(400-402)gGc>gAc p.G134D GBMLGG 17 5037255 5037255 + Missense_Mutation SNP G G A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 g.chr17:5037255G>A c.458G>A c.(457-459)cGg>cAg p.R153Q GBMLGG 17 5039171 5039171 + Silent SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 g.chr17:5039171C>T c.612C>T c.(610-612)gaC>gaT p.D204D GBMLGG 17 5039223 5039223 + Splice_Site SNP G G A TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr17:5039223G>A c.664G>A c.(664-666)Gga>Aga p.G222R GBMLGG 17 5042663 5042663 + Missense_Mutation SNP C C T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr17:5042663C>T c.1192C>T c.(1192-1194)Cgg>Tgg p.R398W GBMLGG 17 5042870 5042870 + Missense_Mutation SNP T T A TCGA-41-2573-01A-01D-1495-08 TCGA-41-2573-10A-01D-1495-08 g.chr17:5042870T>A c.1399T>A c.(1399-1401)Tgg>Agg p.W467R GBMLGG 17 5048779 5048779 + Missense_Mutation SNP G G A TCGA-S9-A7R7-01A-11D-A34J-08 TCGA-S9-A7R7-10A-01D-A34M-08 g.chr17:5048779G>A c.2072G>A c.(2071-2073)tGc>tAc p.C691Y GBMLGG 17 5048783 5048783 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:5048783G>T c.2076G>T c.(2074-2076)aaG>aaT p.K692N GBMLGG 17 5050405 5050405 + Nonsense_Mutation SNP C C T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 g.chr17:5050405C>T c.2347C>T c.(2347-2349)Caa>Taa p.Q783* GBMLGG 17 5066179 5066179 + Splice_Site SNP A A G TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 g.chr17:5066179A>G c.2916A>G c.(2914-2916)agA>agG p.R972R GBMLGG 17 5072170 5072170 + Nonsense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 g.chr17:5072170C>T c.3337C>T c.(3337-3339)Cga>Tga p.R1113* GBMLGG 17 5074028 5074028 + Missense_Mutation SNP A A T TCGA-E1-5311-01A-01D-1468-08 TCGA-E1-5311-10A-01D-1468-08 g.chr17:5074028A>T c.3772A>T c.(3772-3774)Act>Tct p.T1258S GBMLGG 17 5076164 5076164 + Missense_Mutation SNP T T C TCGA-DU-7014-01A-11D-2024-08 TCGA-DU-7014-10A-01D-2024-08 g.chr17:5076164T>C c.4112T>C c.(4111-4113)aTa>aCa p.I1371T HNSC 17 5036229 5036229 + Missense_Mutation SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 g.chr17:5036229A>G c.220A>G c.(220-222)Acg>Gcg p.T74A HNSC 17 5042664 5042664 + Missense_Mutation SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 g.chr17:5042664G>A c.1193G>A c.(1192-1194)cGg>cAg p.R398Q HNSC 17 5042701 5042701 + Silent SNP T T G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 g.chr17:5042701T>G c.1230T>G c.(1228-1230)cgT>cgG p.R410R HNSC 17 5042964 5042964 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:5042964G>A c.1493G>A c.(1492-1494)gGa>gAa p.G498E HNSC 17 5048731 5048731 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 g.chr17:5048731C>T c.2024C>T c.(2023-2025)tCa>tTa p.S675L HNSC 17 5048764 5048764 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 g.chr17:5048764G>A c.2057G>A c.(2056-2058)aGa>aAa p.R686K HNSC 17 5050447 5050447 + Missense_Mutation SNP G G A TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr17:5050447G>A c.2389G>A c.(2389-2391)Gtc>Atc p.V797I HNSC 17 5064823 5064823 + Splice_Site SNP T T A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 g.chr17:5064823T>A c.2829T>A c.(2827-2829)cgT>cgA p.R943R HNSC 17 5072206 5072206 + Missense_Mutation SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 g.chr17:5072206C>A c.3373C>A c.(3373-3375)Ccc>Acc p.P1125T HNSC 17 5074001 5074001 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr17:5074001C>T c.3745C>T c.(3745-3747)Cgg>Tgg p.R1249W HNSC 17 5076127 5076127 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr17:5076127G>A c.4075G>A c.(4075-4077)Gac>Aac p.D1359N KICH 17 5037195 5037195 + Missense_Mutation SNP G G A TCGA-KO-8416-01A-11D-2310-10 TCGA-KO-8416-11A-01D-2311-10 g.chr17:5037195G>A c.398G>A c.(397-399)aGg>aAg p.R133K KICH 17 5044784 5044784 + Silent SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:5044784T>C c.1563T>C c.(1561-1563)gaT>gaC p.D521D KIPAN 17 5037195 5037195 + Missense_Mutation SNP G G A TCGA-KO-8416-01A-11D-2310-10 TCGA-KO-8416-11A-01D-2311-10 g.chr17:5037195G>A c.398G>A c.(397-399)aGg>aAg p.R133K KIPAN 17 5042939 5042939 + Missense_Mutation SNP A A C TCGA-B9-4117-01A-01D-1252-08 TCGA-B9-4117-10A-01D-1252-08 g.chr17:5042939A>C c.1468A>C c.(1468-1470)Acc>Ccc p.T490P KIPAN 17 5044784 5044784 + Silent SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:5044784T>C c.1563T>C c.(1561-1563)gaT>gaC p.D521D KIPAN 17 5048736 5048736 + Missense_Mutation SNP A A G TCGA-B0-4693-01A-01D-1361-10 TCGA-B0-4693-11A-01D-1361-10 g.chr17:5048736A>G c.2029A>G c.(2029-2031)Att>Gtt p.I677V KIPAN 17 5066236 5066236 + Silent SNP C C A TCGA-CZ-4861-01A-01D-1373-10 TCGA-CZ-4861-11A-01D-1373-10 g.chr17:5066236C>A c.2973C>A c.(2971-2973)gcC>gcA p.A991A KIPAN 17 5071273 5071273 + Missense_Mutation SNP C C T TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr17:5071273C>T c.3083C>T c.(3082-3084)gCc>gTc p.A1028V KIRC 17 5048736 5048736 + Missense_Mutation SNP A A G TCGA-B0-4693-01A-01D-1361-10 TCGA-B0-4693-11A-01D-1361-10 g.chr17:5048736A>G c.2029A>G c.(2029-2031)Att>Gtt p.I677V KIRC 17 5066236 5066236 + Silent SNP C C A TCGA-CZ-4861-01A-01D-1373-10 TCGA-CZ-4861-11A-01D-1373-10 g.chr17:5066236C>A c.2973C>A c.(2971-2973)gcC>gcA p.A991A KIRP 17 5042939 5042939 + Missense_Mutation SNP A A C TCGA-B9-4117-01A-01D-1252-08 TCGA-B9-4117-10A-01D-1252-08 g.chr17:5042939A>C c.1468A>C c.(1468-1470)Acc>Ccc p.T490P KIRP 17 5071273 5071273 + Missense_Mutation SNP C C T TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr17:5071273C>T c.3083C>T c.(3082-3084)gCc>gTc p.A1028V LAML 17 5064824 5064824 + Splice_Site SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 g.chr17:5064824G>A c.2830G>A c.(2830-2832)Gat>Aat p.D944N LGG 17 5039171 5039171 + Silent SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 g.chr17:5039171C>T c.612C>T c.(610-612)gaC>gaT p.D204D LGG 17 5039223 5039223 + Splice_Site SNP G G A TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr17:5039223G>A c.664G>A c.(664-666)Gga>Aga p.G222R LGG 17 5048779 5048779 + Missense_Mutation SNP G G A TCGA-S9-A7R7-01A-11D-A34J-08 TCGA-S9-A7R7-10A-01D-A34M-08 g.chr17:5048779G>A c.2072G>A c.(2071-2073)tGc>tAc p.C691Y LGG 17 5048783 5048783 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:5048783G>T c.2076G>T c.(2074-2076)aaG>aaT p.K692N LGG 17 5066179 5066179 + Splice_Site SNP A A G TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 g.chr17:5066179A>G c.2916A>G c.(2914-2916)agA>agG p.R972R LGG 17 5072170 5072170 + Nonsense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 g.chr17:5072170C>T c.3337C>T c.(3337-3339)Cga>Tga p.R1113* LGG 17 5074028 5074028 + Missense_Mutation SNP A A T TCGA-E1-5311-01A-01D-1468-08 TCGA-E1-5311-10A-01D-1468-08 g.chr17:5074028A>T c.3772A>T c.(3772-3774)Act>Tct p.T1258S LGG 17 5076164 5076164 + Missense_Mutation SNP T T C TCGA-DU-7014-01A-11D-2024-08 TCGA-DU-7014-10A-01D-2024-08 g.chr17:5076164T>C c.4112T>C c.(4111-4113)aTa>aCa p.I1371T LIHC 17 5041019 5041019 + Missense_Mutation SNP C C T TCGA-2Y-A9H6-01A-11D-A38X-10 TCGA-2Y-A9H6-10A-01D-A38X-10 g.chr17:5041019C>T c.899C>T c.(898-900)aCc>aTc p.T300I LIHC 17 5041492 5041492 + Silent SNP C C T TCGA-DD-AADU-01A-11D-A40R-10 TCGA-DD-AADU-10A-01D-A40U-10 g.chr17:5041492C>T c.1002C>T c.(1000-1002)aaC>aaT p.N334N LIHC 17 5042895 5042895 + Nonsense_Mutation SNP G G A TCGA-DD-A4ND-01A-11D-A25V-10 TCGA-DD-A4ND-11A-11D-A25V-10 g.chr17:5042895G>A c.1424G>A c.(1423-1425)tGg>tAg p.W475* LIHC 17 5072174 5072174 + Missense_Mutation SNP A A G TCGA-G3-A6UC-01A-21D-A33K-10 TCGA-G3-A6UC-10A-01D-A33K-10 g.chr17:5072174A>G c.3341A>G c.(3340-3342)gAc>gGc p.D1114G LIHC 17 5073793 5073793 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr17:5073793delA c.3537delA c.(3535-3537)agafs p.R1179fs LUAD 17 5039129 5039129 + Missense_Mutation SNP C C A TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr17:5039129C>A c.570C>A c.(568-570)agC>agA p.S190R LUAD 17 5039177 5039177 + Silent SNP C C T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr17:5039177C>T c.618C>T c.(616-618)ttC>ttT p.F206F LUAD 17 5040419 5040419 + Missense_Mutation SNP A A C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr17:5040419A>C c.763A>C c.(763-765)Aag>Cag p.K255Q LUAD 17 5041455 5041455 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr17:5041455G>C c.965G>C c.(964-966)cGt>cCt p.R322P LUAD 17 5041500 5041500 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr17:5041500C>G c.1010C>G c.(1009-1011)aCc>aGc p.T337S LUAD 17 5041502 5041502 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 g.chr17:5041502G>A c.1012G>A c.(1012-1014)Gtg>Atg p.V338M LUAD 17 5042598 5042598 + Missense_Mutation SNP G G T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr17:5042598G>T c.1127G>T c.(1126-1128)cGt>cTt p.R376L LUAD 17 5042761 5042761 + Missense_Mutation SNP G G C TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr17:5042761G>C c.1290G>C c.(1288-1290)caG>caC p.Q430H LUAD 17 5042785 5042785 + Silent SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr17:5042785T>A c.1314T>A c.(1312-1314)gcT>gcA p.A438A LUAD 17 5042837 5042837 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr17:5042837C>T c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W LUAD 17 5045714 5045714 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr17:5045714G>A c.1735G>A c.(1735-1737)Ggg>Agg p.G579R LUAD 17 5048007 5048007 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 g.chr17:5048007C>T c.1841C>T c.(1840-1842)cCc>cTc p.P614L LUAD 17 5048835 5048835 + Frame_Shift_Del DEL C C - TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr17:5048835delC c.2128delC c.(2128-2130)ccafs p.P710fs LUAD 17 5050377 5050377 + Splice_Site SNP G G T TCGA-97-8174-01A-11D-2284-08 TCGA-97-8174-10A-01D-2284-08 g.chr17:5050377G>T c.e29-1 LUAD 17 5050428 5050428 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr17:5050428G>C c.2370G>C c.(2368-2370)ttG>ttC p.L790F LUAD 17 5051863 5051863 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr17:5051863C>T c.2444C>T c.(2443-2445)tCa>tTa p.S815L LUAD 17 5051907 5051907 + Missense_Mutation SNP C C A TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr17:5051907C>A c.2488C>A c.(2488-2490)Cta>Ata p.L830I LUAD 17 5064886 5064886 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr17:5064886C>T c.2892C>T c.(2890-2892)tcC>tcT p.S964S LUAD 17 5071268 5071268 + Silent SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr17:5071268G>A c.3078G>A c.(3076-3078)gcG>gcA p.A1026A LUAD 17 5071277 5071277 + Missense_Mutation SNP G G T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr17:5071277G>T c.3087G>T c.(3085-3087)gaG>gaT p.E1029D LUAD 17 5072103 5072103 + Missense_Mutation SNP G G T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr17:5072103G>T c.3270G>T c.(3268-3270)tgG>tgT p.W1090C LUAD 17 5073935 5073935 + Frame_Shift_Del DEL G G - TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr17:5073935delG c.3679delG c.(3679-3681)gccfs p.A1227fs LUSC 17 5033921 5033921 + Missense_Mutation SNP G G T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr17:5033921G>T c.97G>T c.(97-99)Gac>Tac p.D33Y LUSC 17 5035697 5035697 + Silent SNP G G A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 g.chr17:5035697G>A c.162G>A c.(160-162)acG>acA p.T54T LUSC 17 5039221 5039221 + Missense_Mutation SNP C C T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 g.chr17:5039221C>T c.662C>T c.(661-663)cCa>cTa p.P221L LUSC 17 5039998 5039998 + Missense_Mutation SNP C C G TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 g.chr17:5039998C>G c.728C>G c.(727-729)cCc>cGc p.P243R LUSC 17 5041503 5041503 + Missense_Mutation SNP T T A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr17:5041503T>A c.1013T>A c.(1012-1014)gTg>gAg p.V338E LUSC 17 5048769 5048769 + Missense_Mutation SNP C C G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr17:5048769C>G c.2062C>G c.(2062-2064)Caa>Gaa p.Q688E LUSC 17 5072240 5072240 + Missense_Mutation SNP T T G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr17:5072240T>G c.3407T>G c.(3406-3408)cTg>cGg p.L1136R LUSC 17 5073990 5073990 + Missense_Mutation SNP G G A TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr17:5073990G>A c.3734G>A c.(3733-3735)cGa>cAa p.R1245Q LUSC 17 5074150 5074150 + Missense_Mutation SNP C C A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr17:5074150C>A c.3894C>A c.(3892-3894)agC>agA p.S1298R OV 17 5072322 5072322 + Silent SNP C C A TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 g.chr17:5072322C>A c.3489C>A c.(3487-3489)ctC>ctA p.L1163L PAAD 17 5040979 5040979 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:5040979G>A c.859G>A c.(859-861)Gtg>Atg p.V287M PAAD 17 5042848 5042848 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:5042848G>A c.1377G>A c.(1375-1377)acG>acA p.T459T PAAD 17 5042898 5042898 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:5042898G>A c.1427G>A c.(1426-1428)aGc>aAc p.S476N PAAD 17 5072190 5072190 + Silent SNP G G A TCGA-IB-A6UG-01A-32D-A33T-08 TCGA-IB-A6UG-10A-01D-A33W-08 g.chr17:5072190G>A c.3357G>A c.(3355-3357)caG>caA p.Q1119Q PCPG 17 5074086 5074086 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 g.chr17:5074086G>A c.3830G>A c.(3829-3831)tGt>tAt p.C1277Y PRAD 17 5033903 5033903 + Nonsense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 g.chr17:5033903C>T c.79C>T c.(79-81)Cga>Tga p.R27* PRAD 17 5037204 5037204 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:5037204G>T c.407G>T c.(406-408)aGg>aTg p.R136M PRAD 17 5041502 5041502 + Missense_Mutation SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr17:5041502G>A c.1012G>A c.(1012-1014)Gtg>Atg p.V338M PRAD 17 5042866 5042866 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:5042866C>T c.1395C>T c.(1393-1395)ggC>ggT p.G465G PRAD 17 5048842 5048842 + Missense_Mutation SNP C C A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 g.chr17:5048842C>A c.2135C>A c.(2134-2136)cCa>cAa p.P712Q READ 17 5033955 5033955 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:5033955G>A c.131G>A c.(130-132)aGc>aAc p.S44N READ 17 5041528 5041528 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:5041528G>A c.1038G>A c.(1036-1038)acG>acA p.T346T READ 17 5051946 5051946 + Missense_Mutation SNP A A G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr17:5051946A>G c.2527A>G c.(2527-2529)Act>Gct p.T843A READ 17 5058851 5058851 + Nonsense_Mutation SNP G G A TCGA-AG-3583-01A-01W-0831-10 TCGA-AG-3583-10A-01W-0831-10 g.chr17:5058851G>A c.2778G>A c.(2776-2778)tgG>tgA p.W926* READ 17 5073800 5073800 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:5073800G>T c.3544G>T c.(3544-3546)Gga>Tga p.G1182* READ 17 5073936 5073936 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:5073936C>T c.3680C>T c.(3679-3681)gCc>gTc p.A1227V SARC 17 5041559 5041559 + Missense_Mutation SNP C C T TCGA-FX-A3RE-01A-11D-A228-09 TCGA-FX-A3RE-10A-01D-A22A-09 g.chr17:5041559C>T c.1069C>T c.(1069-1071)Cca>Tca p.P357S SARC 17 5058807 5058807 + Missense_Mutation SNP C C T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 g.chr17:5058807C>T c.2734C>T c.(2734-2736)Cgg>Tgg p.R912W SARC 17 5071226 5071226 + Splice_Site SNP G G A TCGA-X6-A8C4-01A-11D-A36J-09 TCGA-X6-A8C4-10A-01D-A36M-09 g.chr17:5071226G>A c.e34-1 SARC 17 5072153 5072153 + Missense_Mutation SNP G G C TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 g.chr17:5072153G>C c.3320G>C c.(3319-3321)aGt>aCt p.S1107T SKCM 17 5036231 5036231 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:5036231G>A c.222G>A c.(220-222)acG>acA p.T74T SKCM 17 5036747 5036747 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr17:5036747C>T c.286C>T c.(286-288)Cga>Tga p.R96* SKCM 17 5038536 5038536 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr17:5038536G>A c.502G>A c.(502-504)Gaa>Aaa p.E168K SKCM 17 5039137 5039137 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr17:5039137C>T c.578C>T c.(577-579)aCc>aTc p.T193I SKCM 17 5039147 5039147 + Silent SNP C C T TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr17:5039147C>T c.588C>T c.(586-588)ttC>ttT p.F196F SKCM 17 5039181 5039181 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:5039181G>A c.622G>A c.(622-624)Gca>Aca p.A208T SKCM 17 5039961 5039961 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr17:5039961G>A c.691G>A c.(691-693)Gtc>Atc p.V231I SKCM 17 5040009 5040009 + Missense_Mutation SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr17:5040009C>T c.739C>T c.(739-741)Ccc>Tcc p.P247S SKCM 17 5041445 5041445 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:5041445C>T c.955C>T c.(955-957)Ctg>Ttg p.L319L SKCM 17 5042699 5042699 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:5042699C>T c.1228C>T c.(1228-1230)Cgt>Tgt p.R410C SKCM 17 5042803 5042803 + Silent SNP T T C TCGA-D3-A51F-06A-11D-A25O-08 TCGA-D3-A51F-10A-01D-A25O-08 g.chr17:5042803T>C c.1332T>C c.(1330-1332)ggT>ggC p.G444G SKCM 17 5042816 5042816 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr17:5042816C>T c.1345C>T c.(1345-1347)Ctg>Ttg p.L449L SKCM 17 5042836 5042836 + Silent SNP C C T TCGA-EE-A2MH-06A-11D-A197-08 TCGA-EE-A2MH-10A-01D-A199-08 g.chr17:5042836C>T c.1365C>T c.(1363-1365)ccC>ccT p.P455P SKCM 17 5042876 5042876 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:5042876C>T c.1405C>T c.(1405-1407)Ccc>Tcc p.P469S SKCM 17 5042908 5042908 + Silent SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:5042908C>T c.1437C>T c.(1435-1437)gtC>gtT p.V479V SKCM 17 5045313 5045313 + Missense_Mutation SNP G G A TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr17:5045313G>A c.1589G>A c.(1588-1590)gGa>gAa p.G530E SKCM 17 5045411 5045411 + Missense_Mutation SNP G G A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr17:5045411G>A c.1687G>A c.(1687-1689)Ggg>Agg p.G563R SKCM 17 5045710 5045710 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:5045710G>A c.1731G>A c.(1729-1731)atG>atA p.M577I SKCM 17 5048150 5048150 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr17:5048150G>A c.1984G>A c.(1984-1986)Gct>Act p.A662T SKCM 17 5048705 5048705 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr17:5048705G>A c.1998G>A c.(1996-1998)tgG>tgA p.W666* SKCM 17 5048750 5048750 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 g.chr17:5048750C>T c.2043C>T c.(2041-2043)ttC>ttT p.F681F SKCM 17 5048751 5048751 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 g.chr17:5048751C>T c.2044C>T c.(2044-2046)Cat>Tat p.H682Y SKCM 17 5049436 5049436 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr17:5049436C>T c.2286C>T c.(2284-2286)atC>atT p.I762I SKCM 17 5050444 5050444 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:5050444C>T c.2386C>T c.(2386-2388)Cct>Tct p.P796S SKCM 17 5050466 5050466 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr17:5050466C>T c.2408C>T c.(2407-2409)tCa>tTa p.S803L SKCM 17 5051934 5051934 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr17:5051934G>A c.2515G>A c.(2515-2517)Gga>Aga p.G839R SKCM 17 5058737 5058737 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr17:5058737C>T c.2664C>T c.(2662-2664)ttC>ttT p.F888F SKCM 17 5058756 5058756 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr17:5058756C>T c.2683C>T c.(2683-2685)Cgc>Tgc p.R895C SKCM 17 5058874 5058874 + Missense_Mutation SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr17:5058874A>C c.2801A>C c.(2800-2802)cAg>cCg p.Q934P SKCM 17 5058900 5058900 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr17:5058900C>T c.2827C>T c.(2827-2829)Cgt>Tgt p.R943C SKCM 17 5064879 5064879 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr17:5064879G>A c.2885G>A c.(2884-2886)gGg>gAg p.G962E SKCM 17 5066201 5066201 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr17:5066201G>A c.2938G>A c.(2938-2940)Gat>Aat p.D980N SKCM 17 5072137 5072137 + Missense_Mutation SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr17:5072137G>A c.3304G>A c.(3304-3306)Gaa>Aaa p.E1102K SKCM 17 5073877 5073877 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr17:5073877C>T c.3621C>T c.(3619-3621)ctC>ctT p.L1207L SKCM 17 5073878 5073878 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr17:5073878C>T c.3622C>T c.(3622-3624)Cgg>Tgg p.R1208W SKCM 17 5073951 5073951 + Missense_Mutation SNP G G A TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr17:5073951G>A c.3695G>A c.(3694-3696)gGg>gAg p.G1232E SKCM 17 5074166 5074166 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr17:5074166G>A c.3910G>A c.(3910-3912)Gaa>Aaa p.E1304K SKCM 17 5076112 5076112 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr17:5076112G>A c.4060G>A c.(4060-4062)Gat>Aat p.D1354N SKCM 17 5076225 5076225 + Silent SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr17:5076225G>A c.4173G>A c.(4171-4173)acG>acA p.T1391T SKCM 17 5076250 5076250 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 g.chr17:5076250G>A c.4198G>A c.(4198-4200)Gaa>Aaa p.E1400K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 17 5033706 5033706 single base substitution G A 5_prime_UTR_variant ALL-US 17 5033706 5033706 single base substitution G A exon_variant ALL-US 17 5033706 5033706 single base substitution G A intron_variant ALL-US 17 5033706 5033706 single base substitution G A missense_variant R15Q 44G>A ALL-US 17 5071286 5071286 insertion of <=200bp - A 3_prime_UTR_variant ALL-US 17 5071286 5071286 insertion of <=200bp - A frameshift_variant N1032K? ALL-US 17 5071286 5071286 insertion of <=200bp - A frameshift_variant N715K? BLCA-CN 17 5015114 5015114 single base substitution C T upstream_gene_variant BLCA-CN 17 5015119 5015119 single base substitution G C upstream_gene_variant BLCA-CN 17 5050430 5050430 single base substitution G A 3_prime_UTR_variant BLCA-CN 17 5050430 5050430 single base substitution G A intron_variant BLCA-CN 17 5050430 5050430 single base substitution G A missense_variant C474Y 1421G>A BLCA-CN 17 5050430 5050430 single base substitution G A missense_variant C791Y 2372G>A BLCA-US 17 5041030 5041030 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 17 5041030 5041030 single base substitution C G downstream_gene_variant BLCA-US 17 5041030 5041030 single base substitution C G exon_variant BLCA-US 17 5041030 5041030 single base substitution C G missense_variant L304V 910C>G BLCA-US 17 5041507 5041507 single base substitution C T 5_prime_UTR_variant BLCA-US 17 5041507 5041507 single base substitution C T downstream_gene_variant BLCA-US 17 5041507 5041507 single base substitution C T exon_variant BLCA-US 17 5041507 5041507 single base substitution C T synonymous_variant L339L 1017C>T BLCA-US 17 5058719 5058719 single base substitution G A missense_variant M565I 1695G>A BLCA-US 17 5058719 5058719 single base substitution G A missense_variant M882I 2646G>A BLCA-US 17 5058719 5058719 single base substitution G A splice_region_variant BOCA-FR 17 5033879 5033879 single base substitution G A intron_variant BOCA-FR 17 5040968 5040968 single base substitution G A 5_prime_UTR_variant BOCA-FR 17 5040968 5040968 single base substitution G A downstream_gene_variant BOCA-FR 17 5040968 5040968 single base substitution G A exon_variant BOCA-FR 17 5040968 5040968 single base substitution G A missense_variant R283H 848G>A BRCA-EU 17 5014926 5014926 single base substitution C A upstream_gene_variant BRCA-EU 17 5016378 5016378 single base substitution C T upstream_gene_variant BRCA-EU 17 5017819 5017819 single base substitution G A upstream_gene_variant BRCA-EU 17 5020640 5020640 single base substitution C A intron_variant BRCA-EU 17 5020963 5020963 single base substitution C G intron_variant BRCA-EU 17 5023598 5023598 single base substitution G A intron_variant BRCA-EU 17 5024123 5024123 single base substitution C T intron_variant BRCA-EU 17 5025181 5025181 single base substitution G A intron_variant BRCA-EU 17 5025535 5025536 deletion of <=200bp CA - intron_variant BRCA-EU 17 5027482 5027482 single base substitution C T intron_variant BRCA-EU 17 5027482 5027482 single base substitution C T upstream_gene_variant BRCA-EU 17 5027660 5027660 single base substitution G C intron_variant BRCA-EU 17 5027660 5027660 single base substitution G C upstream_gene_variant BRCA-EU 17 5030274 5030274 single base substitution A G intron_variant BRCA-EU 17 5030274 5030274 single base substitution A G upstream_gene_variant BRCA-EU 17 5031402 5031402 single base substitution C T intron_variant BRCA-EU 17 5031402 5031402 single base substitution C T upstream_gene_variant BRCA-EU 17 5033487 5033487 single base substitution G A intron_variant BRCA-EU 17 5033641 5033641 single base substitution T G intron_variant BRCA-EU 17 5033684 5033684 single base substitution G C 5_prime_UTR_variant BRCA-EU 17 5033684 5033684 single base substitution G C exon_variant BRCA-EU 17 5033684 5033684 single base substitution G C intron_variant BRCA-EU 17 5033684 5033684 single base substitution G C missense_variant D8H 22G>C BRCA-EU 17 5034111 5034111 single base substitution G C intron_variant BRCA-EU 17 5034328 5034328 single base substitution G A intron_variant BRCA-EU 17 5036290 5036290 single base substitution T A splice_region_variant BRCA-EU 17 5036346 5036346 single base substitution C A intron_variant BRCA-EU 17 5036531 5036531 single base substitution G A intron_variant BRCA-EU 17 5036882 5036882 single base substitution G A downstream_gene_variant BRCA-EU 17 5036882 5036882 single base substitution G A intron_variant BRCA-EU 17 5038023 5038023 single base substitution A G downstream_gene_variant BRCA-EU 17 5038023 5038023 single base substitution A G exon_variant BRCA-EU 17 5038023 5038023 single base substitution A G intron_variant BRCA-EU 17 5038209 5038209 single base substitution G A downstream_gene_variant BRCA-EU 17 5038209 5038209 single base substitution G A exon_variant BRCA-EU 17 5038209 5038209 single base substitution G A intron_variant BRCA-EU 17 5040824 5040824 single base substitution G A downstream_gene_variant BRCA-EU 17 5040824 5040824 single base substitution G A intron_variant BRCA-EU 17 5042155 5042155 single base substitution G A downstream_gene_variant BRCA-EU 17 5042155 5042155 single base substitution G A intron_variant BRCA-EU 17 5042895 5042895 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 5042895 5042895 single base substitution G A downstream_gene_variant BRCA-EU 17 5042895 5042895 single base substitution G A exon_variant BRCA-EU 17 5042895 5042895 single base substitution G A stop_gained W158* 473G>A BRCA-EU 17 5042895 5042895 single base substitution G A stop_gained W475* 1424G>A BRCA-EU 17 5042969 5042969 single base substitution G T downstream_gene_variant BRCA-EU 17 5042969 5042969 single base substitution G T missense_variant V183F 547G>T BRCA-EU 17 5042969 5042969 single base substitution G T missense_variant V500F 1498G>T BRCA-EU 17 5042969 5042969 single base substitution G T splice_region_variant BRCA-EU 17 5047174 5047174 single base substitution T C intron_variant BRCA-EU 17 5048846 5048846 single base substitution G T 3_prime_UTR_variant BRCA-EU 17 5048846 5048846 single base substitution G T exon_variant BRCA-EU 17 5048846 5048846 single base substitution G T missense_variant M396I 1188G>T BRCA-EU 17 5048846 5048846 single base substitution G T missense_variant M713I 2139G>T BRCA-EU 17 5050313 5050313 single base substitution G A intron_variant BRCA-EU 17 5051247 5051247 single base substitution C T intron_variant BRCA-EU 17 5052698 5052698 insertion of <=200bp - A intron_variant BRCA-EU 17 5052798 5052798 single base substitution G C intron_variant BRCA-EU 17 5053156 5053156 single base substitution A G intron_variant BRCA-EU 17 5053455 5053455 single base substitution C T intron_variant BRCA-EU 17 5053653 5053653 single base substitution G T intron_variant BRCA-EU 17 5054125 5054125 single base substitution C G intron_variant BRCA-EU 17 5054227 5054227 single base substitution C G intron_variant BRCA-EU 17 5054249 5054249 single base substitution C T intron_variant BRCA-EU 17 5056148 5056148 single base substitution C T intron_variant BRCA-EU 17 5056576 5056576 single base substitution G C intron_variant BRCA-EU 17 5057860 5057860 single base substitution A G intron_variant BRCA-EU 17 5058193 5058193 single base substitution T A intron_variant BRCA-EU 17 5058194 5058194 single base substitution A T intron_variant BRCA-EU 17 5060818 5060818 single base substitution T C intron_variant BRCA-EU 17 5060882 5060882 single base substitution T C intron_variant BRCA-EU 17 5061467 5061467 single base substitution G C intron_variant BRCA-EU 17 5061486 5061486 single base substitution T C intron_variant BRCA-EU 17 5062040 5062040 single base substitution G A intron_variant BRCA-EU 17 5062329 5062329 single base substitution A T intron_variant BRCA-EU 17 5062587 5062587 single base substitution G A intron_variant BRCA-EU 17 5062726 5062726 single base substitution G C intron_variant BRCA-EU 17 5063107 5063107 single base substitution A C intron_variant BRCA-EU 17 5064490 5064490 single base substitution G T intron_variant BRCA-EU 17 5066326 5066326 single base substitution G T intron_variant BRCA-EU 17 5066375 5066375 single base substitution C T intron_variant BRCA-EU 17 5067102 5067102 single base substitution G C intron_variant BRCA-EU 17 5069291 5069291 single base substitution G A intron_variant BRCA-EU 17 5072522 5072522 single base substitution G A intron_variant BRCA-EU 17 5073335 5073335 single base substitution G T intron_variant BRCA-EU 17 5074232 5074232 single base substitution T A intron_variant BRCA-EU 17 5076908 5076908 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 5077060 5077060 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 5078244 5078244 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 5081336 5081336 single base substitution A C downstream_gene_variant BRCA-EU 17 5081691 5081691 single base substitution T C downstream_gene_variant BRCA-EU 17 5081782 5081801 deletion of <=200bp AACCTGTTCCCTGGAATCAG - downstream_gene_variant BRCA-EU 17 5082374 5082374 single base substitution G A downstream_gene_variant BRCA-EU 17 5082572 5082572 single base substitution G A downstream_gene_variant BRCA-FR 17 5014926 5014926 single base substitution C A upstream_gene_variant BRCA-FR 17 5028348 5028348 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 17 5028348 5028348 single base substitution C T upstream_gene_variant BRCA-FR 17 5031043 5031043 single base substitution T G intron_variant BRCA-FR 17 5031043 5031043 single base substitution T G upstream_gene_variant BRCA-FR 17 5032419 5032419 single base substitution C T 5_prime_UTR_variant BRCA-FR 17 5032419 5032419 single base substitution C T intron_variant BRCA-FR 17 5035818 5035818 single base substitution C T intron_variant BRCA-FR 17 5048846 5048846 single base substitution G T 3_prime_UTR_variant BRCA-FR 17 5048846 5048846 single base substitution G T exon_variant BRCA-FR 17 5048846 5048846 single base substitution G T missense_variant M396I 1188G>T BRCA-FR 17 5048846 5048846 single base substitution G T missense_variant M713I 2139G>T BRCA-FR 17 5056576 5056576 single base substitution G C intron_variant BRCA-FR 17 5066326 5066326 single base substitution G T intron_variant BRCA-FR 17 5076908 5076908 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 5078244 5078244 single base substitution G C 3_prime_UTR_variant BRCA-FR 17 5082374 5082374 single base substitution G A downstream_gene_variant BRCA-FR 17 5082572 5082572 single base substitution G A downstream_gene_variant BRCA-FR 17 5082663 5082663 single base substitution G A downstream_gene_variant BRCA-KR 17 5037195 5037195 single base substitution G A 5_prime_UTR_variant BRCA-KR 17 5037195 5037195 single base substitution G A downstream_gene_variant BRCA-KR 17 5037195 5037195 single base substitution G A exon_variant BRCA-KR 17 5037195 5037195 single base substitution G A missense_variant R133K 398G>A BRCA-UK 17 5042895 5042895 single base substitution G A 3_prime_UTR_variant BRCA-UK 17 5042895 5042895 single base substitution G A downstream_gene_variant BRCA-UK 17 5042895 5042895 single base substitution G A exon_variant BRCA-UK 17 5042895 5042895 single base substitution G A stop_gained W158* 473G>A BRCA-UK 17 5042895 5042895 single base substitution G A stop_gained W475* 1424G>A BRCA-UK 17 5059710 5059710 single base substitution C G intron_variant BRCA-US 17 5036239 5036239 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 17 5036239 5036239 single base substitution G T exon_variant BRCA-US 17 5036239 5036239 single base substitution G T missense_variant W77L 230G>T BRCA-US 17 5039177 5039177 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 17 5039177 5039177 single base substitution C G downstream_gene_variant BRCA-US 17 5039177 5039177 single base substitution C G exon_variant BRCA-US 17 5039177 5039177 single base substitution C G missense_variant F206L 618C>G BRCA-US 17 5048769 5048769 single base substitution C T 3_prime_UTR_variant BRCA-US 17 5048769 5048769 single base substitution C T exon_variant BRCA-US 17 5048769 5048769 single base substitution C T stop_gained Q371* 1111C>T BRCA-US 17 5048769 5048769 single base substitution C T stop_gained Q688* 2062C>T BRCA-US 17 5071409 5071409 single base substitution A C 3_prime_UTR_variant BRCA-US 17 5071409 5071409 single base substitution A C synonymous_variant P1073P 3219A>C BRCA-US 17 5071409 5071409 single base substitution A C synonymous_variant P756P 2268A>C BRCA-US 17 5072193 5072193 single base substitution T C 3_prime_UTR_variant BRCA-US 17 5072193 5072193 single base substitution T C synonymous_variant H1120H 3360T>C BRCA-US 17 5072193 5072193 single base substitution T C synonymous_variant H803H 2409T>C BRCA-US 17 5072218 5072218 single base substitution G A 3_prime_UTR_variant BRCA-US 17 5072218 5072218 single base substitution G A missense_variant E1129K 3385G>A BRCA-US 17 5072218 5072218 single base substitution G A missense_variant E812K 2434G>A BTCA-JP 17 5033825 5033825 single base substitution G T intron_variant BTCA-JP 17 5033939 5033939 single base substitution G T 5_prime_UTR_variant BTCA-JP 17 5033939 5033939 single base substitution G T exon_variant BTCA-JP 17 5033939 5033939 single base substitution G T intron_variant BTCA-JP 17 5033939 5033939 single base substitution G T missense_variant V39F 115G>T BTCA-JP 17 5036214 5036214 single base substitution C T 5_prime_UTR_variant BTCA-JP 17 5036214 5036214 single base substitution C T exon_variant BTCA-JP 17 5036214 5036214 single base substitution C T missense_variant R69W 205C>T BTCA-JP 17 5036274 5036274 single base substitution C A 5_prime_UTR_variant BTCA-JP 17 5036274 5036274 single base substitution C A exon_variant BTCA-JP 17 5036274 5036274 single base substitution C A missense_variant H89N 265C>A BTCA-JP 17 5036281 5036281 single base substitution G C 5_prime_UTR_variant BTCA-JP 17 5036281 5036281 single base substitution G C exon_variant BTCA-JP 17 5036281 5036281 single base substitution G C missense_variant S91T 272G>C BTCA-JP 17 5036329 5036329 single base substitution A G intron_variant BTCA-JP 17 5038577 5038577 single base substitution G A downstream_gene_variant BTCA-JP 17 5038577 5038577 single base substitution G A splice_region_variant CESC-US 17 5032143 5032143 single base substitution C T 5_prime_UTR_variant CESC-US 17 5032143 5032143 single base substitution C T exon_variant CESC-US 17 5032143 5032143 single base substitution C T intron_variant CESC-US 17 5037191 5037191 single base substitution G T 5_prime_UTR_variant CESC-US 17 5037191 5037191 single base substitution G T downstream_gene_variant CESC-US 17 5037191 5037191 single base substitution G T exon_variant CESC-US 17 5037191 5037191 single base substitution G T stop_gained E132* 394G>T CESC-US 17 5042423 5042423 single base substitution T C 3_prime_UTR_variant CESC-US 17 5042423 5042423 single base substitution T C downstream_gene_variant CESC-US 17 5042423 5042423 single base substitution T C intron_variant CESC-US 17 5042423 5042423 single base substitution T C missense_variant V25A 74T>C CESC-US 17 5045313 5045313 single base substitution G T 3_prime_UTR_variant CESC-US 17 5045313 5045313 single base substitution G T exon_variant CESC-US 17 5045313 5045313 single base substitution G T missense_variant G213V 638G>T CESC-US 17 5045313 5045313 single base substitution G T missense_variant G530V 1589G>T CESC-US 17 5072095 5072095 single base substitution G C 3_prime_UTR_variant CESC-US 17 5072095 5072095 single base substitution G C missense_variant D1088H 3262G>C CESC-US 17 5072095 5072095 single base substitution G C missense_variant D771H 2311G>C CESC-US 17 5076112 5076112 single base substitution G C 3_prime_UTR_variant CESC-US 17 5076112 5076112 single base substitution G C missense_variant D1037H 3109G>C CESC-US 17 5076112 5076112 single base substitution G C missense_variant D1354H 4060G>C CLLE-ES 17 5040149 5040149 single base substitution C T downstream_gene_variant CLLE-ES 17 5040149 5040149 single base substitution C T intron_variant CLLE-ES 17 5042822 5042822 single base substitution T G 3_prime_UTR_variant CLLE-ES 17 5042822 5042822 single base substitution T G downstream_gene_variant CLLE-ES 17 5042822 5042822 single base substitution T G exon_variant CLLE-ES 17 5042822 5042822 single base substitution T G missense_variant W134G 400T>G CLLE-ES 17 5042822 5042822 single base substitution T G missense_variant W451G 1351T>G COAD-US 17 5033939 5033939 single base substitution G A 5_prime_UTR_variant COAD-US 17 5033939 5033939 single base substitution G A exon_variant COAD-US 17 5033939 5033939 single base substitution G A intron_variant COAD-US 17 5033939 5033939 single base substitution G A missense_variant V39I 115G>A COAD-US 17 5036224 5036224 single base substitution C G 5_prime_UTR_variant COAD-US 17 5036224 5036224 single base substitution C G exon_variant COAD-US 17 5036224 5036224 single base substitution C G missense_variant T72R 215C>G COAD-US 17 5036274 5036274 single base substitution C A 5_prime_UTR_variant COAD-US 17 5036274 5036274 single base substitution C A exon_variant COAD-US 17 5036274 5036274 single base substitution C A missense_variant H89N 265C>A COAD-US 17 5036281 5036281 single base substitution G C 5_prime_UTR_variant COAD-US 17 5036281 5036281 single base substitution G C exon_variant COAD-US 17 5036281 5036281 single base substitution G C missense_variant S91T 272G>C COAD-US 17 5036765 5036765 single base substitution C T 5_prime_UTR_variant COAD-US 17 5036765 5036765 single base substitution C T exon_variant COAD-US 17 5036765 5036765 single base substitution C T missense_variant P102S 304C>T COAD-US 17 5037241 5037241 single base substitution G A 5_prime_UTR_variant COAD-US 17 5037241 5037241 single base substitution G A downstream_gene_variant COAD-US 17 5037241 5037241 single base substitution G A exon_variant COAD-US 17 5037241 5037241 single base substitution G A synonymous_variant V148V 444G>A COAD-US 17 5039138 5039138 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 17 5039138 5039138 single base substitution C T downstream_gene_variant COAD-US 17 5039138 5039138 single base substitution C T exon_variant COAD-US 17 5039138 5039138 single base substitution C T synonymous_variant T193T 579C>T COAD-US 17 5041492 5041492 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 17 5041492 5041492 single base substitution C T downstream_gene_variant COAD-US 17 5041492 5041492 single base substitution C T exon_variant COAD-US 17 5041492 5041492 single base substitution C T synonymous_variant N334N 1002C>T COAD-US 17 5058843 5058843 single base substitution G T 3_prime_UTR_variant COAD-US 17 5058843 5058843 single base substitution G T missense_variant V607L 1819G>T COAD-US 17 5058843 5058843 single base substitution G T missense_variant V924L 2770G>T COAD-US 17 5066284 5066284 single base substitution A C 3_prime_UTR_variant COAD-US 17 5066284 5066284 single base substitution A C missense_variant Q1007H 3021A>C COAD-US 17 5066284 5066284 single base substitution A C missense_variant Q690H 2070A>C COAD-US 17 5071260 5071260 single base substitution C T 3_prime_UTR_variant COAD-US 17 5071260 5071260 single base substitution C T missense_variant R1024W 3070C>T COAD-US 17 5071260 5071260 single base substitution C T missense_variant R707W 2119C>T COAD-US 17 5072276 5072276 single base substitution C T 3_prime_UTR_variant COAD-US 17 5072276 5072276 single base substitution C T missense_variant S1148L 3443C>T COAD-US 17 5072276 5072276 single base substitution C T missense_variant S831L 2492C>T COAD-US 17 5072277 5072277 single base substitution G A 3_prime_UTR_variant COAD-US 17 5072277 5072277 single base substitution G A synonymous_variant S1148S 3444G>A COAD-US 17 5072277 5072277 single base substitution G A synonymous_variant S831S 2493G>A COAD-US 17 5074046 5074046 single base substitution G A 3_prime_UTR_variant COAD-US 17 5074046 5074046 single base substitution G A missense_variant V1264I 3790G>A COAD-US 17 5074046 5074046 single base substitution G A missense_variant V947I 2839G>A COCA-CN 17 5025232 5025232 single base substitution G A intron_variant COCA-CN 17 5034048 5034048 single base substitution A G intron_variant COCA-CN 17 5036106 5036106 single base substitution T C intron_variant COCA-CN 17 5036110 5036110 single base substitution G C intron_variant COCA-CN 17 5036122 5036122 single base substitution C G intron_variant COCA-CN 17 5036138 5036138 single base substitution T C intron_variant COCA-CN 17 5036148 5036148 single base substitution T C intron_variant COCA-CN 17 5036152 5036152 single base substitution C T intron_variant COCA-CN 17 5036161 5036161 single base substitution G A intron_variant COCA-CN 17 5036191 5036191 single base substitution G A intron_variant COCA-CN 17 5036211 5036211 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 17 5036211 5036211 single base substitution C T exon_variant COCA-CN 17 5036211 5036211 single base substitution C T missense_variant R68W 202C>T COCA-CN 17 5036214 5036214 single base substitution C T 5_prime_UTR_variant COCA-CN 17 5036214 5036214 single base substitution C T exon_variant COCA-CN 17 5036214 5036214 single base substitution C T missense_variant R69W 205C>T COCA-CN 17 5036219 5036219 single base substitution G A 5_prime_UTR_variant COCA-CN 17 5036219 5036219 single base substitution G A exon_variant COCA-CN 17 5036219 5036219 single base substitution G A synonymous_variant E70E 210G>A COCA-CN 17 5036224 5036224 single base substitution C G 5_prime_UTR_variant COCA-CN 17 5036224 5036224 single base substitution C G exon_variant COCA-CN 17 5036224 5036224 single base substitution C G missense_variant T72R 215C>G COCA-CN 17 5036249 5036249 single base substitution G T 5_prime_UTR_variant COCA-CN 17 5036249 5036249 single base substitution G T exon_variant COCA-CN 17 5036249 5036249 single base substitution G T missense_variant M80I 240G>T COCA-CN 17 5036274 5036274 single base substitution C A 5_prime_UTR_variant COCA-CN 17 5036274 5036274 single base substitution C A exon_variant COCA-CN 17 5036274 5036274 single base substitution C A missense_variant H89N 265C>A COCA-CN 17 5036281 5036281 single base substitution G C 5_prime_UTR_variant COCA-CN 17 5036281 5036281 single base substitution G C exon_variant COCA-CN 17 5036281 5036281 single base substitution G C missense_variant S91T 272G>C COCA-CN 17 5036329 5036329 single base substitution A G intron_variant COCA-CN 17 5036382 5036382 single base substitution G A intron_variant COCA-CN 17 5036383 5036383 single base substitution C T intron_variant COCA-CN 17 5036426 5036426 single base substitution A G intron_variant COCA-CN 17 5036923 5036923 single base substitution C A downstream_gene_variant COCA-CN 17 5036923 5036923 single base substitution C A intron_variant COCA-CN 17 5040985 5040985 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 17 5040985 5040985 single base substitution T C downstream_gene_variant COCA-CN 17 5040985 5040985 single base substitution T C exon_variant COCA-CN 17 5040985 5040985 single base substitution T C synonymous_variant L289L 865T>C COCA-CN 17 5042589 5042589 single base substitution C T 3_prime_UTR_variant COCA-CN 17 5042589 5042589 single base substitution C T downstream_gene_variant COCA-CN 17 5042589 5042589 single base substitution C T exon_variant COCA-CN 17 5042589 5042589 single base substitution C T missense_variant P373L 1118C>T COCA-CN 17 5042589 5042589 single base substitution C T missense_variant P56L 167C>T COCA-CN 17 5045217 5045217 single base substitution C A intron_variant COCA-CN 17 5048069 5048069 single base substitution C A 3_prime_UTR_variant COCA-CN 17 5048069 5048069 single base substitution C A exon_variant COCA-CN 17 5048069 5048069 single base substitution C A missense_variant L318I 952C>A COCA-CN 17 5048069 5048069 single base substitution C A missense_variant L635I 1903C>A COCA-CN 17 5048294 5048294 single base substitution C T intron_variant COCA-CN 17 5050498 5050498 single base substitution G T intron_variant COCA-CN 17 5050609 5050609 single base substitution A G intron_variant COCA-CN 17 5064843 5064843 single base substitution A G 3_prime_UTR_variant COCA-CN 17 5064843 5064843 single base substitution A G missense_variant Q633R 1898A>G COCA-CN 17 5064843 5064843 single base substitution A G missense_variant Q950R 2849A>G COCA-CN 17 5072035 5072035 single base substitution C T intron_variant EOPC-DE 17 5070838 5070838 single base substitution T C intron_variant ESAD-UK 17 5017484 5017484 single base substitution G T upstream_gene_variant ESAD-UK 17 5024474 5024474 single base substitution G T intron_variant ESAD-UK 17 5026790 5026790 single base substitution C T intron_variant ESAD-UK 17 5026790 5026790 single base substitution C T upstream_gene_variant ESAD-UK 17 5026834 5026834 single base substitution G C intron_variant ESAD-UK 17 5026834 5026834 single base substitution G C upstream_gene_variant ESAD-UK 17 5029068 5029068 single base substitution T G intron_variant ESAD-UK 17 5029068 5029068 single base substitution T G upstream_gene_variant ESAD-UK 17 5029775 5029775 single base substitution T C intron_variant ESAD-UK 17 5029775 5029775 single base substitution T C upstream_gene_variant ESAD-UK 17 5029940 5029940 single base substitution C G intron_variant ESAD-UK 17 5029940 5029940 single base substitution C G upstream_gene_variant ESAD-UK 17 5029950 5029950 single base substitution C G intron_variant ESAD-UK 17 5029950 5029950 single base substitution C G upstream_gene_variant ESAD-UK 17 5030308 5030308 single base substitution C A intron_variant ESAD-UK 17 5030308 5030308 single base substitution C A upstream_gene_variant ESAD-UK 17 5030593 5030593 single base substitution G A intron_variant ESAD-UK 17 5030593 5030593 single base substitution G A upstream_gene_variant ESAD-UK 17 5033275 5033275 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 17 5033275 5033275 single base substitution C T exon_variant ESAD-UK 17 5033275 5033275 single base substitution C T intron_variant ESAD-UK 17 5033402 5033402 single base substitution G A intron_variant ESAD-UK 17 5034699 5034699 single base substitution G T intron_variant ESAD-UK 17 5035616 5035616 single base substitution C T exon_variant ESAD-UK 17 5035616 5035616 single base substitution C T intron_variant ESAD-UK 17 5037687 5037687 single base substitution G T downstream_gene_variant ESAD-UK 17 5037687 5037687 single base substitution G T exon_variant ESAD-UK 17 5037687 5037687 single base substitution G T intron_variant ESAD-UK 17 5040176 5040176 single base substitution G A downstream_gene_variant ESAD-UK 17 5040176 5040176 single base substitution G A intron_variant ESAD-UK 17 5041672 5041672 single base substitution C A downstream_gene_variant ESAD-UK 17 5041672 5041672 single base substitution C A intron_variant ESAD-UK 17 5042952 5042952 single base substitution C A 3_prime_UTR_variant ESAD-UK 17 5042952 5042952 single base substitution C A downstream_gene_variant ESAD-UK 17 5042952 5042952 single base substitution C A exon_variant ESAD-UK 17 5042952 5042952 single base substitution C A missense_variant A177D 530C>A ESAD-UK 17 5042952 5042952 single base substitution C A missense_variant A494D 1481C>A ESAD-UK 17 5045094 5045094 single base substitution G T intron_variant ESAD-UK 17 5046212 5046212 single base substitution G A intron_variant ESAD-UK 17 5047806 5047806 single base substitution C T intron_variant ESAD-UK 17 5052267 5052268 deletion of <=200bp TA - intron_variant ESAD-UK 17 5053416 5053416 single base substitution G A intron_variant ESAD-UK 17 5054762 5054762 single base substitution T G intron_variant ESAD-UK 17 5055109 5055109 single base substitution G A intron_variant ESAD-UK 17 5055197 5055197 single base substitution G C intron_variant ESAD-UK 17 5056302 5056302 deletion of <=200bp A - intron_variant ESAD-UK 17 5058017 5058017 insertion of <=200bp - C intron_variant ESAD-UK 17 5058017 5058017 single base substitution T C intron_variant ESAD-UK 17 5058018 5058018 insertion of <=200bp - TC intron_variant ESAD-UK 17 5059292 5059292 single base substitution C G intron_variant ESAD-UK 17 5059695 5059695 single base substitution C T intron_variant ESAD-UK 17 5060551 5060551 single base substitution T A intron_variant ESAD-UK 17 5061577 5061577 single base substitution C T intron_variant ESAD-UK 17 5071421 5071421 single base substitution A G splice_region_variant ESAD-UK 17 5080298 5080298 single base substitution G A downstream_gene_variant ESAD-UK 17 5081644 5081644 deletion of <=200bp A - downstream_gene_variant ESCA-CN 17 5036329 5036329 single base substitution A G intron_variant ESCA-CN 17 5036383 5036383 single base substitution C T intron_variant ESCA-CN 17 5036426 5036426 single base substitution A G intron_variant ESCA-CN 17 5036434 5036434 single base substitution G T intron_variant ESCA-CN 17 5044640 5044640 insertion of <=200bp - A intron_variant ESCA-CN 17 5048021 5048021 single base substitution T G 3_prime_UTR_variant ESCA-CN 17 5048021 5048021 single base substitution T G exon_variant ESCA-CN 17 5048021 5048021 single base substitution T G missense_variant F302V 904T>G ESCA-CN 17 5048021 5048021 single base substitution T G missense_variant F619V 1855T>G GBM-US 17 5037198 5037198 single base substitution G A 5_prime_UTR_variant GBM-US 17 5037198 5037198 single base substitution G A downstream_gene_variant GBM-US 17 5037198 5037198 single base substitution G A exon_variant GBM-US 17 5037198 5037198 single base substitution G A missense_variant G134D 401G>A GBM-US 17 5037255 5037255 single base substitution G A 5_prime_UTR_variant GBM-US 17 5037255 5037255 single base substitution G A downstream_gene_variant GBM-US 17 5037255 5037255 single base substitution G A exon_variant GBM-US 17 5037255 5037255 single base substitution G A missense_variant R153Q 458G>A GBM-US 17 5042663 5042663 single base substitution C T 3_prime_UTR_variant GBM-US 17 5042663 5042663 single base substitution C T downstream_gene_variant GBM-US 17 5042663 5042663 single base substitution C T exon_variant GBM-US 17 5042663 5042663 single base substitution C T missense_variant R398W 1192C>T GBM-US 17 5042663 5042663 single base substitution C T missense_variant R81W 241C>T GBM-US 17 5042870 5042870 single base substitution T A 3_prime_UTR_variant GBM-US 17 5042870 5042870 single base substitution T A downstream_gene_variant GBM-US 17 5042870 5042870 single base substitution T A exon_variant GBM-US 17 5042870 5042870 single base substitution T A missense_variant W150R 448T>A GBM-US 17 5042870 5042870 single base substitution T A missense_variant W467R 1399T>A GBM-US 17 5050405 5050405 single base substitution C T 3_prime_UTR_variant GBM-US 17 5050405 5050405 single base substitution C T intron_variant GBM-US 17 5050405 5050405 single base substitution C T stop_gained Q466* 1396C>T GBM-US 17 5050405 5050405 single base substitution C T stop_gained Q783* 2347C>T KIRC-US 17 5033964 5033964 single base substitution G A 5_prime_UTR_variant KIRC-US 17 5033964 5033964 single base substitution G A exon_variant KIRC-US 17 5033964 5033964 single base substitution G A intron_variant KIRC-US 17 5033964 5033964 single base substitution G A missense_variant R47H 140G>A KIRC-US 17 5036761 5036761 single base substitution A C 5_prime_UTR_variant KIRC-US 17 5036761 5036761 single base substitution A C exon_variant KIRC-US 17 5036761 5036761 single base substitution A C synonymous_variant G100G 300A>C KIRC-US 17 5036784 5036784 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 17 5036784 5036784 single base substitution C T exon_variant KIRC-US 17 5036784 5036784 single base substitution C T missense_variant P108L 323C>T KIRC-US 17 5038559 5038559 single base substitution C A 5_prime_UTR_variant KIRC-US 17 5038559 5038559 single base substitution C A downstream_gene_variant KIRC-US 17 5038559 5038559 single base substitution C A exon_variant KIRC-US 17 5038559 5038559 single base substitution C A synonymous_variant A175A 525C>A KIRC-US 17 5048736 5048736 single base substitution A G 3_prime_UTR_variant KIRC-US 17 5048736 5048736 single base substitution A G exon_variant KIRC-US 17 5048736 5048736 single base substitution A G missense_variant I360V 1078A>G KIRC-US 17 5048736 5048736 single base substitution A G missense_variant I677V 2029A>G KIRC-US 17 5066236 5066236 single base substitution C A 3_prime_UTR_variant KIRC-US 17 5066236 5066236 single base substitution C A synonymous_variant A674A 2022C>A KIRC-US 17 5066236 5066236 single base substitution C A synonymous_variant A991A 2973C>A LAML-KR 17 5015129 5015129 single base substitution C A upstream_gene_variant LAML-KR 17 5033568 5033568 single base substitution A T intron_variant LAML-KR 17 5034048 5034048 single base substitution A G intron_variant LAML-KR 17 5034630 5034630 single base substitution T A intron_variant LAML-KR 17 5035998 5035998 single base substitution C T intron_variant LAML-KR 17 5036148 5036148 single base substitution T C intron_variant LAML-KR 17 5036161 5036161 single base substitution G A intron_variant LAML-KR 17 5036224 5036224 single base substitution C G 5_prime_UTR_variant LAML-KR 17 5036224 5036224 single base substitution C G exon_variant LAML-KR 17 5036224 5036224 single base substitution C G missense_variant T72R 215C>G LAML-KR 17 5036274 5036274 single base substitution C A 5_prime_UTR_variant LAML-KR 17 5036274 5036274 single base substitution C A exon_variant LAML-KR 17 5036274 5036274 single base substitution C A missense_variant H89N 265C>A LAML-KR 17 5036281 5036281 single base substitution G C 5_prime_UTR_variant LAML-KR 17 5036281 5036281 single base substitution G C exon_variant LAML-KR 17 5036281 5036281 single base substitution G C missense_variant S91T 272G>C LAML-KR 17 5036329 5036329 single base substitution A G intron_variant LAML-KR 17 5036426 5036426 single base substitution A G intron_variant LAML-KR 17 5036434 5036434 single base substitution G T intron_variant LAML-KR 17 5036966 5036966 single base substitution T C downstream_gene_variant LAML-KR 17 5036966 5036966 single base substitution T C intron_variant LAML-KR 17 5036975 5036975 single base substitution T C downstream_gene_variant LAML-KR 17 5036975 5036975 single base substitution T C intron_variant LAML-KR 17 5036979 5036979 single base substitution C T downstream_gene_variant LAML-KR 17 5036979 5036979 single base substitution C T intron_variant LAML-KR 17 5037006 5037006 single base substitution C G downstream_gene_variant LAML-KR 17 5037006 5037006 single base substitution C G intron_variant LAML-KR 17 5037029 5037029 single base substitution C T downstream_gene_variant LAML-KR 17 5037029 5037029 single base substitution C T intron_variant LAML-KR 17 5037195 5037195 single base substitution G A 5_prime_UTR_variant LAML-KR 17 5037195 5037195 single base substitution G A downstream_gene_variant LAML-KR 17 5037195 5037195 single base substitution G A exon_variant LAML-KR 17 5037195 5037195 single base substitution G A missense_variant R133K 398G>A LAML-KR 17 5038339 5038339 single base substitution T A downstream_gene_variant LAML-KR 17 5038339 5038339 single base substitution T A intron_variant LAML-KR 17 5038342 5038342 single base substitution G A downstream_gene_variant LAML-KR 17 5038342 5038342 single base substitution G A intron_variant LAML-KR 17 5038379 5038379 single base substitution A T downstream_gene_variant LAML-KR 17 5038379 5038379 single base substitution A T intron_variant LAML-KR 17 5039294 5039294 single base substitution G A downstream_gene_variant LAML-KR 17 5039294 5039294 single base substitution G A intron_variant LAML-KR 17 5040758 5040758 single base substitution A C downstream_gene_variant LAML-KR 17 5040758 5040758 single base substitution A C intron_variant LAML-KR 17 5043254 5043254 single base substitution T C downstream_gene_variant LAML-KR 17 5043254 5043254 single base substitution T C intron_variant LAML-KR 17 5048294 5048294 single base substitution C T intron_variant LAML-KR 17 5051894 5051894 single base substitution T A 3_prime_UTR_variant LAML-KR 17 5051894 5051894 single base substitution T A synonymous_variant T508T 1524T>A LAML-KR 17 5051894 5051894 single base substitution T A synonymous_variant T825T 2475T>A LGG-US 17 5072170 5072170 single base substitution C T 3_prime_UTR_variant LGG-US 17 5072170 5072170 single base substitution C T stop_gained R1113* 3337C>T LGG-US 17 5072170 5072170 single base substitution C T stop_gained R796* 2386C>T LGG-US 17 5074028 5074028 single base substitution A T 3_prime_UTR_variant LGG-US 17 5074028 5074028 single base substitution A T missense_variant T1258S 3772A>T LGG-US 17 5074028 5074028 single base substitution A T missense_variant T941S 2821A>T LICA-CN 17 5042743 5042743 single base substitution G A 3_prime_UTR_variant LICA-CN 17 5042743 5042743 single base substitution G A downstream_gene_variant LICA-CN 17 5042743 5042743 single base substitution G A exon_variant LICA-CN 17 5042743 5042743 single base substitution G A synonymous_variant T107T 321G>A LICA-CN 17 5042743 5042743 single base substitution G A synonymous_variant T424T 1272G>A LICA-FR 17 5015104 5015104 single base substitution C T upstream_gene_variant LICA-FR 17 5020548 5020548 single base substitution C A intron_variant LICA-FR 17 5035767 5035767 single base substitution C T intron_variant LICA-FR 17 5035824 5035824 single base substitution C T intron_variant LICA-FR 17 5037195 5037195 single base substitution G A 5_prime_UTR_variant LICA-FR 17 5037195 5037195 single base substitution G A downstream_gene_variant LICA-FR 17 5037195 5037195 single base substitution G A exon_variant LICA-FR 17 5037195 5037195 single base substitution G A missense_variant R133K 398G>A LICA-FR 17 5042623 5042623 single base substitution G T 3_prime_UTR_variant LICA-FR 17 5042623 5042623 single base substitution G T downstream_gene_variant LICA-FR 17 5042623 5042623 single base substitution G T exon_variant LICA-FR 17 5042623 5042623 single base substitution G T synonymous_variant G384G 1152G>T LICA-FR 17 5042623 5042623 single base substitution G T synonymous_variant G67G 201G>T LICA-FR 17 5045315 5045315 single base substitution G T 3_prime_UTR_variant LICA-FR 17 5045315 5045315 single base substitution G T exon_variant LICA-FR 17 5045315 5045315 single base substitution G T missense_variant A214S 640G>T LICA-FR 17 5045315 5045315 single base substitution G T missense_variant A531S 1591G>T LICA-FR 17 5050484 5050484 single base substitution A G 3_prime_UTR_variant LICA-FR 17 5050484 5050484 single base substitution A G intron_variant LICA-FR 17 5050484 5050484 single base substitution A G missense_variant Q492R 1475A>G LICA-FR 17 5050484 5050484 single base substitution A G missense_variant Q809R 2426A>G LICA-FR 17 5056138 5056138 single base substitution A C intron_variant LICA-FR 17 5057614 5057614 single base substitution A T intron_variant LICA-FR 17 5059344 5059344 single base substitution T C intron_variant LICA-FR 17 5061875 5061875 single base substitution G A intron_variant LICA-FR 17 5064631 5064631 single base substitution G A intron_variant LICA-FR 17 5075112 5075112 single base substitution G A intron_variant LICA-FR 17 5076166 5076166 single base substitution G A 3_prime_UTR_variant LICA-FR 17 5076166 5076166 single base substitution G A missense_variant D1055N 3163G>A LICA-FR 17 5076166 5076166 single base substitution G A missense_variant D1372N 4114G>A LIHC-US 17 5042895 5042895 single base substitution G A 3_prime_UTR_variant LIHC-US 17 5042895 5042895 single base substitution G A downstream_gene_variant LIHC-US 17 5042895 5042895 single base substitution G A exon_variant LIHC-US 17 5042895 5042895 single base substitution G A stop_gained W158* 473G>A LIHC-US 17 5042895 5042895 single base substitution G A stop_gained W475* 1424G>A LIHC-US 17 5072174 5072174 single base substitution A G 3_prime_UTR_variant LIHC-US 17 5072174 5072174 single base substitution A G missense_variant D1114G 3341A>G LIHC-US 17 5072174 5072174 single base substitution A G missense_variant D797G 2390A>G LINC-JP 17 5025232 5025232 single base substitution G A intron_variant LINC-JP 17 5035935 5035935 deletion of <=200bp G - intron_variant LINC-JP 17 5036122 5036122 single base substitution C G intron_variant LINC-JP 17 5036148 5036148 single base substitution T C intron_variant LINC-JP 17 5036224 5036224 single base substitution C G 5_prime_UTR_variant LINC-JP 17 5036224 5036224 single base substitution C G exon_variant LINC-JP 17 5036224 5036224 single base substitution C G missense_variant T72R 215C>G LINC-JP 17 5036274 5036274 single base substitution C A 5_prime_UTR_variant LINC-JP 17 5036274 5036274 single base substitution C A exon_variant LINC-JP 17 5036274 5036274 single base substitution C A missense_variant H89N 265C>A LINC-JP 17 5036281 5036281 single base substitution G C 5_prime_UTR_variant LINC-JP 17 5036281 5036281 single base substitution G C exon_variant LINC-JP 17 5036281 5036281 single base substitution G C missense_variant S91T 272G>C LINC-JP 17 5036434 5036434 single base substitution G T intron_variant LINC-JP 17 5036584 5036585 deletion of <=200bp TT - intron_variant LINC-JP 17 5036946 5036946 deletion of <=200bp A - downstream_gene_variant LINC-JP 17 5036946 5036946 deletion of <=200bp A - intron_variant LINC-JP 17 5037176 5037176 single base substitution C T downstream_gene_variant LINC-JP 17 5037176 5037176 single base substitution C T intron_variant LINC-JP 17 5037176 5037176 single base substitution C T splice_region_variant LINC-JP 17 5043346 5043346 single base substitution A C intron_variant LINC-JP 17 5047885 5047885 single base substitution T A intron_variant LINC-JP 17 5050181 5050181 single base substitution T C intron_variant LINC-JP 17 5055996 5055996 single base substitution A G intron_variant LINC-JP 17 5057599 5057599 insertion of <=200bp - A intron_variant LINC-JP 17 5061710 5061710 single base substitution A G intron_variant LINC-JP 17 5076218 5076218 single base substitution G A 3_prime_UTR_variant LINC-JP 17 5076218 5076218 single base substitution G A missense_variant S1072N 3215G>A LINC-JP 17 5076218 5076218 single base substitution G A missense_variant S1389N 4166G>A LIRI-JP 17 5017997 5017997 single base substitution T C upstream_gene_variant LIRI-JP 17 5018761 5018761 single base substitution G A upstream_gene_variant LIRI-JP 17 5020906 5020906 single base substitution T A intron_variant LIRI-JP 17 5022518 5022518 deletion of <=200bp T - intron_variant LIRI-JP 17 5023448 5023448 single base substitution G T intron_variant LIRI-JP 17 5031998 5031998 single base substitution G C 5_prime_UTR_variant LIRI-JP 17 5031998 5031998 single base substitution G C intron_variant LIRI-JP 17 5031998 5031998 single base substitution G C upstream_gene_variant LIRI-JP 17 5036023 5036023 single base substitution G C intron_variant LIRI-JP 17 5036024 5036024 single base substitution G A intron_variant LIRI-JP 17 5037565 5037565 single base substitution T G downstream_gene_variant LIRI-JP 17 5037565 5037565 single base substitution T G exon_variant LIRI-JP 17 5037565 5037565 single base substitution T G intron_variant LIRI-JP 17 5038051 5038051 single base substitution G A downstream_gene_variant LIRI-JP 17 5038051 5038051 single base substitution G A exon_variant LIRI-JP 17 5038051 5038051 single base substitution G A intron_variant LIRI-JP 17 5042715 5042715 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 5042715 5042715 single base substitution G A downstream_gene_variant LIRI-JP 17 5042715 5042715 single base substitution G A exon_variant LIRI-JP 17 5042715 5042715 single base substitution G A missense_variant C415Y 1244G>A LIRI-JP 17 5042715 5042715 single base substitution G A missense_variant C98Y 293G>A LIRI-JP 17 5043469 5043469 single base substitution T C intron_variant LIRI-JP 17 5045424 5045424 single base substitution A T 3_prime_UTR_variant LIRI-JP 17 5045424 5045424 single base substitution A T exon_variant LIRI-JP 17 5045424 5045424 single base substitution A T missense_variant Y250F 749A>T LIRI-JP 17 5045424 5045424 single base substitution A T missense_variant Y567F 1700A>T LIRI-JP 17 5045581 5045581 single base substitution C T intron_variant LIRI-JP 17 5045582 5045582 single base substitution T A intron_variant LIRI-JP 17 5048523 5048523 single base substitution T A intron_variant LIRI-JP 17 5049239 5049239 single base substitution C A intron_variant LIRI-JP 17 5055325 5055325 single base substitution T C intron_variant LIRI-JP 17 5056218 5056218 single base substitution A C intron_variant LIRI-JP 17 5056382 5056382 single base substitution T C intron_variant LIRI-JP 17 5059212 5059212 single base substitution G A intron_variant LIRI-JP 17 5059690 5059690 single base substitution C T intron_variant LIRI-JP 17 5059852 5059852 single base substitution C T intron_variant LIRI-JP 17 5064981 5064981 single base substitution T C intron_variant LIRI-JP 17 5066713 5066713 single base substitution A T intron_variant LIRI-JP 17 5067183 5067183 deletion of <=200bp C - intron_variant LIRI-JP 17 5067539 5067539 single base substitution T C intron_variant LIRI-JP 17 5078862 5078862 single base substitution C T downstream_gene_variant LIRI-JP 17 5081205 5081205 single base substitution T C downstream_gene_variant LIRI-JP 17 5082348 5082348 single base substitution T G downstream_gene_variant LUSC-KR 17 5015326 5015326 single base substitution C A upstream_gene_variant LUSC-KR 17 5019561 5019561 single base substitution C T upstream_gene_variant LUSC-KR 17 5020231 5020231 single base substitution G T intron_variant LUSC-KR 17 5027342 5027342 single base substitution G A intron_variant LUSC-KR 17 5027342 5027342 single base substitution G A upstream_gene_variant LUSC-KR 17 5031946 5031946 single base substitution G A 5_prime_UTR_variant LUSC-KR 17 5031946 5031946 single base substitution G A intron_variant LUSC-KR 17 5031946 5031946 single base substitution G A upstream_gene_variant LUSC-KR 17 5032545 5032545 single base substitution C T 5_prime_UTR_variant LUSC-KR 17 5032545 5032545 single base substitution C T intron_variant LUSC-KR 17 5034105 5034105 single base substitution G C intron_variant LUSC-KR 17 5034630 5034630 single base substitution T A intron_variant LUSC-KR 17 5035767 5035767 single base substitution C T intron_variant LUSC-KR 17 5035781 5035781 single base substitution G A intron_variant LUSC-KR 17 5035789 5035789 single base substitution A G intron_variant LUSC-KR 17 5035948 5035948 single base substitution G C intron_variant LUSC-KR 17 5035998 5035998 single base substitution C T intron_variant LUSC-KR 17 5036023 5036023 single base substitution G C intron_variant LUSC-KR 17 5036024 5036024 single base substitution G A intron_variant LUSC-KR 17 5036069 5036069 single base substitution C A intron_variant LUSC-KR 17 5036106 5036106 single base substitution T C intron_variant LUSC-KR 17 5036110 5036110 single base substitution G C intron_variant LUSC-KR 17 5036122 5036122 single base substitution C G intron_variant LUSC-KR 17 5036138 5036138 single base substitution T C intron_variant LUSC-KR 17 5036148 5036148 single base substitution T C intron_variant LUSC-KR 17 5036152 5036152 single base substitution C T intron_variant LUSC-KR 17 5036161 5036161 single base substitution G A intron_variant LUSC-KR 17 5036214 5036214 single base substitution C T 5_prime_UTR_variant LUSC-KR 17 5036214 5036214 single base substitution C T exon_variant LUSC-KR 17 5036214 5036214 single base substitution C T missense_variant R69W 205C>T LUSC-KR 17 5036224 5036224 single base substitution C G 5_prime_UTR_variant LUSC-KR 17 5036224 5036224 single base substitution C G exon_variant LUSC-KR 17 5036224 5036224 single base substitution C G missense_variant T72R 215C>G LUSC-KR 17 5036249 5036249 single base substitution G T 5_prime_UTR_variant LUSC-KR 17 5036249 5036249 single base substitution G T exon_variant LUSC-KR 17 5036249 5036249 single base substitution G T missense_variant M80I 240G>T LUSC-KR 17 5036274 5036274 single base substitution C A 5_prime_UTR_variant LUSC-KR 17 5036274 5036274 single base substitution C A exon_variant LUSC-KR 17 5036274 5036274 single base substitution C A missense_variant H89N 265C>A LUSC-KR 17 5036281 5036281 single base substitution G C 5_prime_UTR_variant LUSC-KR 17 5036281 5036281 single base substitution G C exon_variant LUSC-KR 17 5036281 5036281 single base substitution G C missense_variant S91T 272G>C LUSC-KR 17 5036329 5036329 single base substitution A G intron_variant LUSC-KR 17 5036383 5036383 single base substitution C T intron_variant LUSC-KR 17 5036426 5036426 single base substitution A G intron_variant LUSC-KR 17 5036434 5036434 single base substitution G T intron_variant LUSC-KR 17 5036453 5036453 single base substitution T C intron_variant LUSC-KR 17 5036464 5036464 single base substitution T A intron_variant LUSC-KR 17 5036923 5036923 single base substitution C A downstream_gene_variant LUSC-KR 17 5036923 5036923 single base substitution C A intron_variant LUSC-KR 17 5037061 5037061 single base substitution G C downstream_gene_variant LUSC-KR 17 5037061 5037061 single base substitution G C intron_variant LUSC-KR 17 5037064 5037064 single base substitution G A downstream_gene_variant LUSC-KR 17 5037064 5037064 single base substitution G A intron_variant LUSC-KR 17 5037195 5037195 single base substitution G A 5_prime_UTR_variant LUSC-KR 17 5037195 5037195 single base substitution G A downstream_gene_variant LUSC-KR 17 5037195 5037195 single base substitution G A exon_variant LUSC-KR 17 5037195 5037195 single base substitution G A missense_variant R133K 398G>A LUSC-KR 17 5041696 5041696 single base substitution G A downstream_gene_variant LUSC-KR 17 5041696 5041696 single base substitution G A intron_variant LUSC-KR 17 5046293 5046293 single base substitution T A intron_variant LUSC-KR 17 5050412 5050412 single base substitution C T 3_prime_UTR_variant LUSC-KR 17 5050412 5050412 single base substitution C T intron_variant LUSC-KR 17 5050412 5050412 single base substitution C T missense_variant S468L 1403C>T LUSC-KR 17 5050412 5050412 single base substitution C T missense_variant S785L 2354C>T LUSC-KR 17 5052315 5052315 single base substitution G A intron_variant LUSC-KR 17 5056058 5056058 single base substitution G A intron_variant LUSC-KR 17 5059611 5059611 single base substitution C T intron_variant LUSC-KR 17 5061901 5061901 single base substitution G A intron_variant LUSC-KR 17 5064387 5064387 single base substitution G T intron_variant LUSC-KR 17 5065412 5065412 single base substitution A G intron_variant LUSC-KR 17 5077234 5077234 single base substitution G C 3_prime_UTR_variant LUSC-KR 17 5081423 5081423 single base substitution G A downstream_gene_variant LUSC-KR 17 5082087 5082087 single base substitution C T downstream_gene_variant LUSC-US 17 5033921 5033921 single base substitution G T 5_prime_UTR_variant LUSC-US 17 5033921 5033921 single base substitution G T exon_variant LUSC-US 17 5033921 5033921 single base substitution G T intron_variant LUSC-US 17 5033921 5033921 single base substitution G T missense_variant D33Y 97G>T LUSC-US 17 5035697 5035697 single base substitution G A 5_prime_UTR_variant LUSC-US 17 5035697 5035697 single base substitution G A exon_variant LUSC-US 17 5035697 5035697 single base substitution G A synonymous_variant T54T 162G>A LUSC-US 17 5039221 5039221 single base substitution C T downstream_gene_variant LUSC-US 17 5039221 5039221 single base substitution C T missense_variant P221L 662C>T LUSC-US 17 5039221 5039221 single base substitution C T splice_region_variant LUSC-US 17 5039998 5039998 single base substitution C G 5_prime_UTR_variant LUSC-US 17 5039998 5039998 single base substitution C G downstream_gene_variant LUSC-US 17 5039998 5039998 single base substitution C G exon_variant LUSC-US 17 5039998 5039998 single base substitution C G missense_variant P243R 728C>G LUSC-US 17 5041503 5041503 single base substitution T A 5_prime_UTR_variant LUSC-US 17 5041503 5041503 single base substitution T A downstream_gene_variant LUSC-US 17 5041503 5041503 single base substitution T A exon_variant LUSC-US 17 5041503 5041503 single base substitution T A missense_variant V338E 1013T>A LUSC-US 17 5048769 5048769 single base substitution C G 3_prime_UTR_variant LUSC-US 17 5048769 5048769 single base substitution C G exon_variant LUSC-US 17 5048769 5048769 single base substitution C G missense_variant Q371E 1111C>G LUSC-US 17 5048769 5048769 single base substitution C G missense_variant Q688E 2062C>G LUSC-US 17 5072240 5072240 single base substitution T G 3_prime_UTR_variant LUSC-US 17 5072240 5072240 single base substitution T G missense_variant L1136R 3407T>G LUSC-US 17 5072240 5072240 single base substitution T G missense_variant L819R 2456T>G LUSC-US 17 5073990 5073990 single base substitution G A 3_prime_UTR_variant LUSC-US 17 5073990 5073990 single base substitution G A missense_variant R1245Q 3734G>A LUSC-US 17 5073990 5073990 single base substitution G A missense_variant R928Q 2783G>A LUSC-US 17 5074150 5074150 single base substitution C A 3_prime_UTR_variant LUSC-US 17 5074150 5074150 single base substitution C A missense_variant S1298R 3894C>A LUSC-US 17 5074150 5074150 single base substitution C A missense_variant S981R 2943C>A MALY-DE 17 5019878 5019878 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 17 5027098 5027099 deletion of <=200bp AC - intron_variant MALY-DE 17 5027098 5027099 deletion of <=200bp AC - upstream_gene_variant MALY-DE 17 5031573 5031573 single base substitution C T intron_variant MALY-DE 17 5031573 5031573 single base substitution C T upstream_gene_variant MALY-DE 17 5040367 5040367 single base substitution T C downstream_gene_variant MALY-DE 17 5040367 5040367 single base substitution T C intron_variant MALY-DE 17 5041450 5041450 single base substitution G A 5_prime_UTR_variant MALY-DE 17 5041450 5041450 single base substitution G A downstream_gene_variant MALY-DE 17 5041450 5041450 single base substitution G A exon_variant MALY-DE 17 5041450 5041450 single base substitution G A stop_gained W320* 960G>A MALY-DE 17 5042803 5042803 single base substitution T G 3_prime_UTR_variant MALY-DE 17 5042803 5042803 single base substitution T G downstream_gene_variant MALY-DE 17 5042803 5042803 single base substitution T G exon_variant MALY-DE 17 5042803 5042803 single base substitution T G synonymous_variant G127G 381T>G MALY-DE 17 5042803 5042803 single base substitution T G synonymous_variant G444G 1332T>G MALY-DE 17 5067204 5067204 single base substitution C T intron_variant MALY-DE 17 5070765 5070765 single base substitution G A intron_variant MELA-AU 17 5015191 5015191 single base substitution C T upstream_gene_variant MELA-AU 17 5015301 5015301 single base substitution G A upstream_gene_variant MELA-AU 17 5015323 5015323 single base substitution G A upstream_gene_variant MELA-AU 17 5015593 5015593 single base substitution G A upstream_gene_variant MELA-AU 17 5015982 5015982 single base substitution C T upstream_gene_variant MELA-AU 17 5016248 5016248 single base substitution C T upstream_gene_variant MELA-AU 17 5016485 5016486 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 5017077 5017077 single base substitution A T upstream_gene_variant MELA-AU 17 5017559 5017559 single base substitution C T upstream_gene_variant MELA-AU 17 5018814 5018814 single base substitution C T upstream_gene_variant MELA-AU 17 5018839 5018840 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 5019180 5019180 single base substitution C T upstream_gene_variant MELA-AU 17 5019798 5019798 single base substitution G A 5_prime_UTR_variant MELA-AU 17 5019865 5019865 single base substitution G A 5_prime_UTR_variant MELA-AU 17 5019949 5019949 single base substitution G A 5_prime_UTR_variant MELA-AU 17 5020016 5020016 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 5020232 5020232 single base substitution T G intron_variant MELA-AU 17 5020381 5020382 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 5020500 5020500 single base substitution C G intron_variant MELA-AU 17 5020542 5020542 single base substitution G A intron_variant MELA-AU 17 5021021 5021021 single base substitution G A intron_variant MELA-AU 17 5022611 5022611 single base substitution G A intron_variant MELA-AU 17 5022919 5022919 single base substitution C T intron_variant MELA-AU 17 5023190 5023190 single base substitution G A intron_variant MELA-AU 17 5023441 5023441 single base substitution C T intron_variant MELA-AU 17 5023460 5023460 single base substitution G A intron_variant MELA-AU 17 5023481 5023481 single base substitution G A intron_variant MELA-AU 17 5023851 5023851 single base substitution G A intron_variant MELA-AU 17 5024212 5024213 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 5024219 5024219 single base substitution G A intron_variant MELA-AU 17 5024667 5024667 single base substitution C T splice_region_variant MELA-AU 17 5025555 5025555 single base substitution T C intron_variant MELA-AU 17 5025843 5025843 single base substitution G A intron_variant MELA-AU 17 5026908 5026908 single base substitution C T intron_variant MELA-AU 17 5026908 5026908 single base substitution C T upstream_gene_variant MELA-AU 17 5027210 5027210 single base substitution A G intron_variant MELA-AU 17 5027210 5027210 single base substitution A G upstream_gene_variant MELA-AU 17 5027434 5027434 single base substitution C T intron_variant MELA-AU 17 5027434 5027434 single base substitution C T upstream_gene_variant MELA-AU 17 5028643 5028643 single base substitution G A intron_variant MELA-AU 17 5028643 5028643 single base substitution G A upstream_gene_variant MELA-AU 17 5029364 5029364 single base substitution C T intron_variant MELA-AU 17 5029364 5029364 single base substitution C T upstream_gene_variant MELA-AU 17 5029601 5029601 single base substitution G A intron_variant MELA-AU 17 5029601 5029601 single base substitution G A upstream_gene_variant MELA-AU 17 5030107 5030107 single base substitution G A intron_variant MELA-AU 17 5030107 5030107 single base substitution G A upstream_gene_variant MELA-AU 17 5030293 5030293 single base substitution C T intron_variant MELA-AU 17 5030293 5030293 single base substitution C T upstream_gene_variant MELA-AU 17 5030693 5030693 single base substitution G A intron_variant MELA-AU 17 5030693 5030693 single base substitution G A upstream_gene_variant MELA-AU 17 5030928 5030928 single base substitution T C 5_prime_UTR_variant MELA-AU 17 5030928 5030928 single base substitution T C upstream_gene_variant MELA-AU 17 5030987 5030987 single base substitution C T intron_variant MELA-AU 17 5030987 5030987 single base substitution C T upstream_gene_variant MELA-AU 17 5031200 5031200 single base substitution C T intron_variant MELA-AU 17 5031200 5031200 single base substitution C T upstream_gene_variant MELA-AU 17 5031262 5031262 single base substitution C T intron_variant MELA-AU 17 5031262 5031262 single base substitution C T upstream_gene_variant MELA-AU 17 5031342 5031342 single base substitution G A intron_variant MELA-AU 17 5031342 5031342 single base substitution G A upstream_gene_variant MELA-AU 17 5031573 5031573 single base substitution C T intron_variant MELA-AU 17 5031573 5031573 single base substitution C T upstream_gene_variant MELA-AU 17 5032089 5032089 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 5032089 5032089 single base substitution C T exon_variant MELA-AU 17 5032089 5032089 single base substitution C T intron_variant MELA-AU 17 5032089 5032089 single base substitution C T upstream_gene_variant MELA-AU 17 5032579 5032579 single base substitution C T 5_prime_UTR_variant MELA-AU 17 5032579 5032579 single base substitution C T intron_variant MELA-AU 17 5032726 5032726 single base substitution C T 5_prime_UTR_variant MELA-AU 17 5032726 5032726 single base substitution C T intron_variant MELA-AU 17 5032727 5032727 single base substitution C T 5_prime_UTR_variant MELA-AU 17 5032727 5032727 single base substitution C T intron_variant MELA-AU 17 5033032 5033032 single base substitution C T 5_prime_UTR_variant MELA-AU 17 5033032 5033032 single base substitution C T intron_variant MELA-AU 17 5033034 5033035 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 17 5033034 5033035 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 5033275 5033275 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 5033275 5033275 single base substitution C T exon_variant MELA-AU 17 5033275 5033275 single base substitution C T intron_variant MELA-AU 17 5033338 5033338 single base substitution G A 5_prime_UTR_variant MELA-AU 17 5033338 5033338 single base substitution G A exon_variant MELA-AU 17 5033338 5033338 single base substitution G A intron_variant MELA-AU 17 5033480 5033480 single base substitution G A intron_variant MELA-AU 17 5033743 5033743 single base substitution C T intron_variant MELA-AU 17 5033802 5033802 single base substitution C T intron_variant MELA-AU 17 5033989 5033989 single base substitution C T intron_variant MELA-AU 17 5034053 5034053 single base substitution G A intron_variant MELA-AU 17 5034062 5034062 single base substitution G A intron_variant MELA-AU 17 5034250 5034250 single base substitution G A intron_variant MELA-AU 17 5034307 5034307 single base substitution C T intron_variant MELA-AU 17 5034406 5034406 single base substitution C T intron_variant MELA-AU 17 5034445 5034445 single base substitution C T intron_variant MELA-AU 17 5034449 5034449 single base substitution G A intron_variant MELA-AU 17 5035059 5035059 single base substitution C T intron_variant MELA-AU 17 5035089 5035089 single base substitution G A intron_variant MELA-AU 17 5035095 5035095 single base substitution A T intron_variant MELA-AU 17 5035450 5035450 single base substitution C T intron_variant MELA-AU 17 5035487 5035487 single base substitution C T intron_variant MELA-AU 17 5035560 5035560 single base substitution C T exon_variant MELA-AU 17 5035560 5035560 single base substitution C T intron_variant MELA-AU 17 5035730 5035730 single base substitution G A splice_region_variant MELA-AU 17 5035801 5035801 single base substitution G A intron_variant MELA-AU 17 5036073 5036073 single base substitution C T intron_variant MELA-AU 17 5036079 5036079 single base substitution G A intron_variant MELA-AU 17 5036254 5036254 single base substitution G A 5_prime_UTR_variant MELA-AU 17 5036254 5036254 single base substitution G A exon_variant MELA-AU 17 5036254 5036254 single base substitution G A missense_variant G82E 245G>A MELA-AU 17 5036295 5036295 single base substitution G A intron_variant MELA-AU 17 5036371 5036371 single base substitution C A intron_variant MELA-AU 17 5036383 5036383 single base substitution C T intron_variant MELA-AU 17 5036550 5036550 single base substitution G A intron_variant MELA-AU 17 5036574 5036574 single base substitution C T intron_variant MELA-AU 17 5037307 5037307 single base substitution C T downstream_gene_variant MELA-AU 17 5037307 5037307 single base substitution C T exon_variant MELA-AU 17 5037307 5037307 single base substitution C T intron_variant MELA-AU 17 5037337 5037337 single base substitution G A downstream_gene_variant MELA-AU 17 5037337 5037337 single base substitution G A exon_variant MELA-AU 17 5037337 5037337 single base substitution G A intron_variant MELA-AU 17 5037550 5037550 single base substitution G A downstream_gene_variant MELA-AU 17 5037550 5037550 single base substitution G A exon_variant MELA-AU 17 5037550 5037550 single base substitution G A intron_variant MELA-AU 17 5038354 5038354 single base substitution T C downstream_gene_variant MELA-AU 17 5038354 5038354 single base substitution T C intron_variant MELA-AU 17 5038427 5038427 single base substitution A C downstream_gene_variant MELA-AU 17 5038427 5038427 single base substitution A C intron_variant MELA-AU 17 5038550 5038550 single base substitution C T 5_prime_UTR_variant MELA-AU 17 5038550 5038550 single base substitution C T downstream_gene_variant MELA-AU 17 5038550 5038550 single base substitution C T exon_variant MELA-AU 17 5038550 5038550 single base substitution C T synonymous_variant I172I 516C>T MELA-AU 17 5038572 5038572 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 5038572 5038572 single base substitution A G downstream_gene_variant MELA-AU 17 5038572 5038572 single base substitution A G exon_variant MELA-AU 17 5038572 5038572 single base substitution A G missense_variant N180D 538A>G MELA-AU 17 5039180 5039180 single base substitution G A 5_prime_UTR_variant MELA-AU 17 5039180 5039180 single base substitution G A downstream_gene_variant MELA-AU 17 5039180 5039180 single base substitution G A exon_variant MELA-AU 17 5039180 5039180 single base substitution G A stop_gained W207* 621G>A MELA-AU 17 5039216 5039216 single base substitution C T 5_prime_UTR_variant MELA-AU 17 5039216 5039216 single base substitution C T downstream_gene_variant MELA-AU 17 5039216 5039216 single base substitution C T exon_variant MELA-AU 17 5039216 5039216 single base substitution C T synonymous_variant S219S 657C>T MELA-AU 17 5039245 5039245 single base substitution G A downstream_gene_variant MELA-AU 17 5039245 5039245 single base substitution G A intron_variant MELA-AU 17 5039481 5039481 single base substitution C T downstream_gene_variant MELA-AU 17 5039481 5039481 single base substitution C T intron_variant MELA-AU 17 5039517 5039517 single base substitution G A downstream_gene_variant MELA-AU 17 5039517 5039517 single base substitution G A intron_variant MELA-AU 17 5039546 5039546 single base substitution G A downstream_gene_variant MELA-AU 17 5039546 5039546 single base substitution G A intron_variant MELA-AU 17 5039549 5039549 single base substitution C T downstream_gene_variant MELA-AU 17 5039549 5039549 single base substitution C T intron_variant MELA-AU 17 5039618 5039618 single base substitution C T downstream_gene_variant MELA-AU 17 5039618 5039618 single base substitution C T intron_variant MELA-AU 17 5039741 5039741 single base substitution G A downstream_gene_variant MELA-AU 17 5039741 5039741 single base substitution G A intron_variant MELA-AU 17 5039785 5039785 single base substitution C T downstream_gene_variant MELA-AU 17 5039785 5039785 single base substitution C T intron_variant MELA-AU 17 5039858 5039858 single base substitution C T downstream_gene_variant MELA-AU 17 5039858 5039858 single base substitution C T intron_variant MELA-AU 17 5039895 5039896 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 5039895 5039896 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 5039935 5039935 single base substitution G A downstream_gene_variant MELA-AU 17 5039935 5039935 single base substitution G A missense_variant G222E 665G>A MELA-AU 17 5039935 5039935 single base substitution G A splice_region_variant MELA-AU 17 5039968 5039968 single base substitution G A 5_prime_UTR_variant MELA-AU 17 5039968 5039968 single base substitution G A downstream_gene_variant MELA-AU 17 5039968 5039968 single base substitution G A exon_variant MELA-AU 17 5039968 5039968 single base substitution G A missense_variant G233E 698G>A MELA-AU 17 5039972 5039972 single base substitution C T 5_prime_UTR_variant MELA-AU 17 5039972 5039972 single base substitution C T downstream_gene_variant MELA-AU 17 5039972 5039972 single base substitution C T exon_variant MELA-AU 17 5039972 5039972 single base substitution C T synonymous_variant L234L 702C>T MELA-AU 17 5040124 5040124 single base substitution T A downstream_gene_variant MELA-AU 17 5040124 5040124 single base substitution T A intron_variant MELA-AU 17 5040220 5040220 single base substitution G A downstream_gene_variant MELA-AU 17 5040220 5040220 single base substitution G A intron_variant MELA-AU 17 5040313 5040313 single base substitution C T downstream_gene_variant MELA-AU 17 5040313 5040313 single base substitution C T intron_variant MELA-AU 17 5040512 5040512 single base substitution G A downstream_gene_variant MELA-AU 17 5040512 5040512 single base substitution G A intron_variant MELA-AU 17 5040525 5040525 single base substitution C T downstream_gene_variant MELA-AU 17 5040525 5040525 single base substitution C T intron_variant MELA-AU 17 5040554 5040554 single base substitution G A downstream_gene_variant MELA-AU 17 5040554 5040554 single base substitution G A intron_variant MELA-AU 17 5040950 5040950 single base substitution C T 5_prime_UTR_variant MELA-AU 17 5040950 5040950 single base substitution C T downstream_gene_variant MELA-AU 17 5040950 5040950 single base substitution C T exon_variant MELA-AU 17 5040950 5040950 single base substitution C T missense_variant S277F 830C>T MELA-AU 17 5041030 5041031 multiple base substitution (>=2bp and <=200bp) CT TA 5_prime_UTR_variant MELA-AU 17 5041030 5041031 multiple base substitution (>=2bp and <=200bp) CT TA downstream_gene_variant MELA-AU 17 5041030 5041031 multiple base substitution (>=2bp and <=200bp) CT TA exon_variant MELA-AU 17 5041030 5041031 multiple base substitution (>=2bp and <=200bp) CT TA missense_variant L304Y 910CT>TA MELA-AU 17 5041230 5041230 single base substitution G A downstream_gene_variant MELA-AU 17 5041230 5041230 single base substitution G A intron_variant MELA-AU 17 5041316 5041316 single base substitution G A downstream_gene_variant MELA-AU 17 5041316 5041316 single base substitution G A intron_variant MELA-AU 17 5041343 5041343 single base substitution G A downstream_gene_variant MELA-AU 17 5041343 5041343 single base substitution G A intron_variant MELA-AU 17 5041381 5041381 single base substitution G A downstream_gene_variant MELA-AU 17 5041381 5041381 single base substitution G A intron_variant MELA-AU 17 5041582 5041583 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 5041582 5041583 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 5041609 5041609 single base substitution G A downstream_gene_variant MELA-AU 17 5041609 5041609 single base substitution G A intron_variant MELA-AU 17 5041975 5041976 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 5041975 5041976 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 5042017 5042017 single base substitution C T downstream_gene_variant MELA-AU 17 5042017 5042017 single base substitution C T intron_variant MELA-AU 17 5042061 5042061 single base substitution C T downstream_gene_variant MELA-AU 17 5042061 5042061 single base substitution C T intron_variant MELA-AU 17 5042209 5042209 single base substitution G A downstream_gene_variant MELA-AU 17 5042209 5042209 single base substitution G A intron_variant MELA-AU 17 5042227 5042227 single base substitution C T downstream_gene_variant MELA-AU 17 5042227 5042227 single base substitution C T intron_variant MELA-AU 17 5042392 5042392 single base substitution C T 3_prime_UTR_variant MELA-AU 17 5042392 5042392 single base substitution C T downstream_gene_variant MELA-AU 17 5042392 5042392 single base substitution C T intron_variant MELA-AU 17 5042392 5042392 single base substitution C T missense_variant P15S 43C>T MELA-AU 17 5042496 5042496 single base substitution G A downstream_gene_variant MELA-AU 17 5042496 5042496 single base substitution G A intron_variant MELA-AU 17 5042623 5042623 single base substitution G A 3_prime_UTR_variant MELA-AU 17 5042623 5042623 single base substitution G A downstream_gene_variant MELA-AU 17 5042623 5042623 single base substitution G A exon_variant MELA-AU 17 5042623 5042623 single base substitution G A synonymous_variant G384G 1152G>A MELA-AU 17 5042623 5042623 single base substitution G A synonymous_variant G67G 201G>A MELA-AU 17 5042682 5042682 single base substitution C T 3_prime_UTR_variant MELA-AU 17 5042682 5042682 single base substitution C T downstream_gene_variant MELA-AU 17 5042682 5042682 single base substitution C T exon_variant MELA-AU 17 5042682 5042682 single base substitution C T missense_variant S404F 1211C>T MELA-AU 17 5042682 5042682 single base substitution C T missense_variant S87F 260C>T MELA-AU 17 5042836 5042836 single base substitution C T 3_prime_UTR_variant MELA-AU 17 5042836 5042836 single base substitution C T downstream_gene_variant MELA-AU 17 5042836 5042836 single base substitution C T exon_variant MELA-AU 17 5042836 5042836 single base substitution C T synonymous_variant P138P 414C>T MELA-AU 17 5042836 5042836 single base substitution C T synonymous_variant P455P 1365C>T MELA-AU 17 5043094 5043094 single base substitution C T downstream_gene_variant MELA-AU 17 5043094 5043094 single base substitution C T intron_variant MELA-AU 17 5043198 5043198 single base substitution G A downstream_gene_variant MELA-AU 17 5043198 5043198 single base substitution G A intron_variant MELA-AU 17 5043228 5043228 single base substitution C T downstream_gene_variant MELA-AU 17 5043228 5043228 single base substitution C T intron_variant MELA-AU 17 5043775 5043775 single base substitution G A intron_variant MELA-AU 17 5044126 5044127 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant MELA-AU 17 5044451 5044452 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 17 5044716 5044716 single base substitution C T splice_region_variant MELA-AU 17 5045090 5045090 single base substitution C T intron_variant MELA-AU 17 5045113 5045113 single base substitution C T intron_variant MELA-AU 17 5045326 5045326 single base substitution A G 3_prime_UTR_variant MELA-AU 17 5045326 5045326 single base substitution A G exon_variant MELA-AU 17 5045326 5045326 single base substitution A G synonymous_variant L217L 651A>G MELA-AU 17 5045326 5045326 single base substitution A G synonymous_variant L534L 1602A>G MELA-AU 17 5045513 5045513 single base substitution T A intron_variant MELA-AU 17 5045524 5045524 single base substitution G A intron_variant MELA-AU 17 5046149 5046149 single base substitution C T intron_variant MELA-AU 17 5046371 5046371 single base substitution G A intron_variant MELA-AU 17 5046434 5046434 single base substitution C T intron_variant MELA-AU 17 5046459 5046459 single base substitution C T intron_variant MELA-AU 17 5046475 5046475 single base substitution G A intron_variant MELA-AU 17 5046623 5046623 single base substitution G A intron_variant MELA-AU 17 5046710 5046710 single base substitution A T intron_variant MELA-AU 17 5047040 5047040 single base substitution G A intron_variant MELA-AU 17 5047129 5047129 single base substitution G A intron_variant MELA-AU 17 5047175 5047175 single base substitution C T intron_variant MELA-AU 17 5047656 5047656 single base substitution T A intron_variant MELA-AU 17 5047777 5047777 single base substitution G A intron_variant MELA-AU 17 5048006 5048006 single base substitution C T 3_prime_UTR_variant MELA-AU 17 5048006 5048006 single base substitution C T exon_variant MELA-AU 17 5048006 5048006 single base substitution C T missense_variant P297S 889C>T MELA-AU 17 5048006 5048006 single base substitution C T missense_variant P614S 1840C>T MELA-AU 17 5048612 5048612 single base substitution C T intron_variant MELA-AU 17 5048731 5048731 single base substitution C T 3_prime_UTR_variant MELA-AU 17 5048731 5048731 single base substitution C T exon_variant MELA-AU 17 5048731 5048731 single base substitution C T missense_variant S358L 1073C>T MELA-AU 17 5048731 5048731 single base substitution C T missense_variant S675L 2024C>T MELA-AU 17 5049130 5049130 single base substitution C T intron_variant MELA-AU 17 5049415 5049415 single base substitution T G 3_prime_UTR_variant MELA-AU 17 5049415 5049415 single base substitution T G exon_variant MELA-AU 17 5049415 5049415 single base substitution T G missense_variant C438W 1314T>G MELA-AU 17 5049415 5049415 single base substitution T G missense_variant C755W 2265T>G MELA-AU 17 5049479 5049479 single base substitution A C intron_variant MELA-AU 17 5049691 5049691 single base substitution G A intron_variant MELA-AU 17 5049833 5049833 single base substitution C T intron_variant MELA-AU 17 5050136 5050136 single base substitution G A intron_variant MELA-AU 17 5050315 5050315 single base substitution G A intron_variant MELA-AU 17 5050349 5050349 single base substitution C T intron_variant MELA-AU 17 5050578 5050578 single base substitution G A intron_variant MELA-AU 17 5050630 5050630 single base substitution C T intron_variant MELA-AU 17 5050631 5050631 single base substitution C T intron_variant MELA-AU 17 5050787 5050787 single base substitution G A intron_variant MELA-AU 17 5050927 5050927 single base substitution C T intron_variant MELA-AU 17 5051264 5051264 single base substitution C T intron_variant MELA-AU 17 5051442 5051442 single base substitution G A intron_variant MELA-AU 17 5051484 5051484 single base substitution T G intron_variant MELA-AU 17 5051675 5051675 single base substitution G T intron_variant MELA-AU 17 5051804 5051804 single base substitution G A intron_variant MELA-AU 17 5051934 5051934 single base substitution G A 3_prime_UTR_variant MELA-AU 17 5051934 5051934 single base substitution G A missense_variant G522R 1564G>A MELA-AU 17 5051934 5051934 single base substitution G A missense_variant G839R 2515G>A MELA-AU 17 5052310 5052310 single base substitution T G intron_variant MELA-AU 17 5052347 5052347 single base substitution C T intron_variant MELA-AU 17 5052445 5052445 single base substitution C T intron_variant MELA-AU 17 5053026 5053026 single base substitution C T intron_variant MELA-AU 17 5053091 5053091 single base substitution T C intron_variant MELA-AU 17 5053575 5053575 single base substitution G A intron_variant MELA-AU 17 5053639 5053639 single base substitution G A intron_variant MELA-AU 17 5053699 5053700 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 17 5053701 5053701 single base substitution G A intron_variant MELA-AU 17 5053782 5053782 single base substitution C G intron_variant MELA-AU 17 5053858 5053858 single base substitution C T intron_variant MELA-AU 17 5053981 5053981 single base substitution G A intron_variant MELA-AU 17 5054255 5054255 single base substitution C A intron_variant MELA-AU 17 5054312 5054312 single base substitution G A intron_variant MELA-AU 17 5054376 5054376 single base substitution C T intron_variant MELA-AU 17 5054981 5054981 single base substitution C T intron_variant MELA-AU 17 5055356 5055356 single base substitution G A intron_variant MELA-AU 17 5055506 5055506 single base substitution C T intron_variant MELA-AU 17 5055810 5055810 single base substitution C T intron_variant MELA-AU 17 5056362 5056362 single base substitution G A intron_variant MELA-AU 17 5056645 5056645 single base substitution G A intron_variant MELA-AU 17 5056715 5056715 single base substitution G A intron_variant MELA-AU 17 5057494 5057494 single base substitution G A intron_variant MELA-AU 17 5057571 5057571 single base substitution T C intron_variant MELA-AU 17 5058017 5058017 single base substitution T C intron_variant MELA-AU 17 5058139 5058139 single base substitution C T intron_variant MELA-AU 17 5058638 5058638 single base substitution C T intron_variant MELA-AU 17 5059296 5059296 single base substitution C T intron_variant MELA-AU 17 5059415 5059415 single base substitution C A intron_variant MELA-AU 17 5059482 5059482 single base substitution T C intron_variant MELA-AU 17 5059491 5059491 single base substitution C T intron_variant MELA-AU 17 5059575 5059575 single base substitution C T intron_variant MELA-AU 17 5059761 5059761 single base substitution C T intron_variant MELA-AU 17 5059826 5059826 single base substitution C T intron_variant MELA-AU 17 5059978 5059978 single base substitution T C intron_variant MELA-AU 17 5060117 5060117 single base substitution C T intron_variant MELA-AU 17 5060408 5060413 deletion of <=200bp TCTCGC - intron_variant MELA-AU 17 5060411 5060411 single base substitution C T intron_variant MELA-AU 17 5060731 5060731 single base substitution C T intron_variant MELA-AU 17 5060948 5060948 single base substitution G A intron_variant MELA-AU 17 5061165 5061165 single base substitution C T intron_variant MELA-AU 17 5061281 5061281 single base substitution G A intron_variant MELA-AU 17 5061322 5061322 single base substitution G A intron_variant MELA-AU 17 5061626 5061626 single base substitution C T intron_variant MELA-AU 17 5061983 5061983 single base substitution C T intron_variant MELA-AU 17 5062018 5062018 single base substitution G A intron_variant MELA-AU 17 5062176 5062177 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 5062809 5062809 single base substitution T C intron_variant MELA-AU 17 5062849 5062849 single base substitution G A intron_variant MELA-AU 17 5063140 5063140 single base substitution C T intron_variant MELA-AU 17 5063575 5063575 single base substitution C T intron_variant MELA-AU 17 5063783 5063783 single base substitution T G intron_variant MELA-AU 17 5064011 5064011 single base substitution G A intron_variant MELA-AU 17 5064022 5064022 single base substitution C T intron_variant MELA-AU 17 5064334 5064334 single base substitution C T intron_variant MELA-AU 17 5064581 5064581 single base substitution C T intron_variant MELA-AU 17 5065116 5065116 single base substitution G A intron_variant MELA-AU 17 5065278 5065278 single base substitution G A intron_variant MELA-AU 17 5065321 5065321 single base substitution C T intron_variant MELA-AU 17 5065477 5065477 single base substitution C T intron_variant MELA-AU 17 5065537 5065538 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 5065841 5065841 single base substitution A G intron_variant MELA-AU 17 5065907 5065907 single base substitution C T intron_variant MELA-AU 17 5066101 5066101 single base substitution G A intron_variant MELA-AU 17 5066201 5066201 single base substitution G A 3_prime_UTR_variant MELA-AU 17 5066201 5066201 single base substitution G A missense_variant D663N 1987G>A MELA-AU 17 5066201 5066201 single base substitution G A missense_variant D980N 2938G>A MELA-AU 17 5066341 5066341 single base substitution G A intron_variant MELA-AU 17 5066610 5066610 single base substitution C A intron_variant MELA-AU 17 5066614 5066614 single base substitution G A intron_variant MELA-AU 17 5066805 5066805 single base substitution G A intron_variant MELA-AU 17 5066822 5066822 single base substitution G A intron_variant MELA-AU 17 5067216 5067216 single base substitution A G intron_variant MELA-AU 17 5067377 5067377 single base substitution C T intron_variant MELA-AU 17 5067442 5067442 single base substitution C T intron_variant MELA-AU 17 5067594 5067594 single base substitution C T intron_variant MELA-AU 17 5067909 5067909 single base substitution G A intron_variant MELA-AU 17 5067969 5067969 single base substitution G A intron_variant MELA-AU 17 5068619 5068619 single base substitution C T intron_variant MELA-AU 17 5068652 5068652 single base substitution T G intron_variant MELA-AU 17 5069233 5069233 single base substitution A C intron_variant MELA-AU 17 5069398 5069398 single base substitution G A intron_variant MELA-AU 17 5069537 5069537 single base substitution C T intron_variant MELA-AU 17 5069739 5069739 single base substitution T A intron_variant MELA-AU 17 5069874 5069874 single base substitution A G intron_variant MELA-AU 17 5070059 5070059 single base substitution G T intron_variant MELA-AU 17 5070099 5070099 single base substitution C T intron_variant MELA-AU 17 5070371 5070371 single base substitution A G intron_variant MELA-AU 17 5070625 5070625 single base substitution G A intron_variant MELA-AU 17 5070720 5070720 single base substitution G A intron_variant MELA-AU 17 5071036 5071036 single base substitution G A intron_variant MELA-AU 17 5071204 5071204 single base substitution C T intron_variant MELA-AU 17 5071213 5071213 single base substitution C T intron_variant MELA-AU 17 5071287 5071287 single base substitution C T 3_prime_UTR_variant MELA-AU 17 5071287 5071287 single base substitution C T synonymous_variant L1033L 3097C>T MELA-AU 17 5071287 5071287 single base substitution C T synonymous_variant L716L 2146C>T MELA-AU 17 5071553 5071553 single base substitution G A intron_variant MELA-AU 17 5072547 5072547 single base substitution G A intron_variant MELA-AU 17 5072648 5072648 single base substitution C T intron_variant MELA-AU 17 5072692 5072692 single base substitution G A intron_variant MELA-AU 17 5073007 5073007 single base substitution G A intron_variant MELA-AU 17 5073014 5073014 single base substitution G A intron_variant MELA-AU 17 5073370 5073370 single base substitution C T intron_variant MELA-AU 17 5074013 5074013 single base substitution C T 3_prime_UTR_variant MELA-AU 17 5074013 5074013 single base substitution C T stop_gained Q1253* 3757C>T MELA-AU 17 5074013 5074013 single base substitution C T stop_gained Q936* 2806C>T MELA-AU 17 5074037 5074037 single base substitution G A 3_prime_UTR_variant MELA-AU 17 5074037 5074037 single base substitution G A missense_variant D1261N 3781G>A MELA-AU 17 5074037 5074037 single base substitution G A missense_variant D944N 2830G>A MELA-AU 17 5074166 5074166 single base substitution G A 3_prime_UTR_variant MELA-AU 17 5074166 5074166 single base substitution G A missense_variant E1304K 3910G>A MELA-AU 17 5074166 5074166 single base substitution G A missense_variant E987K 2959G>A MELA-AU 17 5074417 5074417 single base substitution G A intron_variant MELA-AU 17 5075262 5075262 single base substitution G A intron_variant MELA-AU 17 5075364 5075364 single base substitution G A intron_variant MELA-AU 17 5075377 5075378 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 5075991 5075991 single base substitution G A intron_variant MELA-AU 17 5075992 5075992 single base substitution G A intron_variant MELA-AU 17 5076020 5076020 single base substitution G A intron_variant MELA-AU 17 5076036 5076036 single base substitution C T intron_variant MELA-AU 17 5076106 5076106 single base substitution C T 3_prime_UTR_variant MELA-AU 17 5076106 5076106 single base substitution C T missense_variant H1035Y 3103C>T MELA-AU 17 5076106 5076106 single base substitution C T missense_variant H1352Y 4054C>T MELA-AU 17 5076856 5076856 single base substitution A G 3_prime_UTR_variant MELA-AU 17 5076895 5076895 single base substitution G A 3_prime_UTR_variant MELA-AU 17 5076967 5076967 single base substitution G A 3_prime_UTR_variant MELA-AU 17 5077001 5077001 single base substitution C T 3_prime_UTR_variant MELA-AU 17 5077091 5077091 single base substitution G A 3_prime_UTR_variant MELA-AU 17 5077154 5077154 single base substitution G A 3_prime_UTR_variant MELA-AU 17 5077625 5077625 single base substitution G A 3_prime_UTR_variant MELA-AU 17 5077902 5077902 single base substitution C T 3_prime_UTR_variant MELA-AU 17 5077934 5077934 single base substitution G A 3_prime_UTR_variant MELA-AU 17 5078510 5078510 single base substitution G A downstream_gene_variant MELA-AU 17 5078882 5078882 single base substitution G A downstream_gene_variant MELA-AU 17 5079259 5079259 single base substitution G A downstream_gene_variant MELA-AU 17 5079285 5079285 single base substitution G A downstream_gene_variant MELA-AU 17 5080273 5080273 single base substitution G A downstream_gene_variant MELA-AU 17 5080275 5080275 single base substitution G A downstream_gene_variant MELA-AU 17 5080466 5080467 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 5080580 5080580 single base substitution G A downstream_gene_variant MELA-AU 17 5081322 5081322 single base substitution C T downstream_gene_variant MELA-AU 17 5081846 5081846 single base substitution G A downstream_gene_variant MELA-AU 17 5082193 5082193 single base substitution G A downstream_gene_variant MELA-AU 17 5082366 5082366 single base substitution G A downstream_gene_variant MELA-AU 17 5082540 5082540 single base substitution G A downstream_gene_variant ORCA-IN 17 5042895 5042895 single base substitution G A 3_prime_UTR_variant ORCA-IN 17 5042895 5042895 single base substitution G A downstream_gene_variant ORCA-IN 17 5042895 5042895 single base substitution G A exon_variant ORCA-IN 17 5042895 5042895 single base substitution G A stop_gained W158* 473G>A ORCA-IN 17 5042895 5042895 single base substitution G A stop_gained W475* 1424G>A ORCA-IN 17 5051878 5051878 single base substitution G T 3_prime_UTR_variant ORCA-IN 17 5051878 5051878 single base substitution G T exon_variant ORCA-IN 17 5051878 5051878 single base substitution G T missense_variant G503V 1508G>T ORCA-IN 17 5051878 5051878 single base substitution G T missense_variant G820V 2459G>T ORCA-IN 17 5051878 5051878 single base substitution G T stop_gained E783* 2347G>T ORCA-IN 17 5074169 5074169 single base substitution G C 3_prime_UTR_variant ORCA-IN 17 5074169 5074169 single base substitution G C missense_variant D1305H 3913G>C ORCA-IN 17 5074169 5074169 single base substitution G C missense_variant D988H 2962G>C OV-AU 17 5017937 5017937 single base substitution C A upstream_gene_variant OV-AU 17 5018326 5018326 single base substitution C T upstream_gene_variant OV-AU 17 5022066 5022066 single base substitution G A intron_variant OV-AU 17 5022138 5022138 single base substitution C T intron_variant OV-AU 17 5022256 5022256 single base substitution G T intron_variant OV-AU 17 5023962 5023962 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 17 5025021 5025021 single base substitution G T 5_prime_UTR_variant OV-AU 17 5027423 5027423 single base substitution G A intron_variant OV-AU 17 5027423 5027423 single base substitution G A upstream_gene_variant OV-AU 17 5038333 5038333 single base substitution T C downstream_gene_variant OV-AU 17 5038333 5038333 single base substitution T C intron_variant OV-AU 17 5043689 5043689 single base substitution G T intron_variant OV-AU 17 5048183 5048183 single base substitution G A intron_variant OV-AU 17 5052701 5052701 single base substitution A C intron_variant OV-AU 17 5054209 5054209 single base substitution G A intron_variant OV-AU 17 5071267 5071267 single base substitution C T 3_prime_UTR_variant OV-AU 17 5071267 5071267 single base substitution C T missense_variant A1026V 3077C>T OV-AU 17 5071267 5071267 single base substitution C T missense_variant A709V 2126C>T OV-US 17 5035594 5035594 single base substitution A T exon_variant OV-US 17 5035594 5035594 single base substitution A T intron_variant PACA-AU 17 5015064 5015064 single base substitution G A upstream_gene_variant PACA-AU 17 5018445 5018445 single base substitution G T upstream_gene_variant PACA-AU 17 5029467 5029467 single base substitution T C intron_variant PACA-AU 17 5029467 5029467 single base substitution T C upstream_gene_variant PACA-AU 17 5031945 5031945 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 17 5031945 5031945 single base substitution C T intron_variant PACA-AU 17 5031945 5031945 single base substitution C T upstream_gene_variant PACA-AU 17 5035476 5035476 single base substitution C G intron_variant PACA-AU 17 5038216 5038216 single base substitution G A downstream_gene_variant PACA-AU 17 5038216 5038216 single base substitution G A exon_variant PACA-AU 17 5038216 5038216 single base substitution G A intron_variant PACA-AU 17 5038379 5038379 single base substitution A T downstream_gene_variant PACA-AU 17 5038379 5038379 single base substitution A T intron_variant PACA-AU 17 5042356 5042356 single base substitution C T 3_prime_UTR_variant PACA-AU 17 5042356 5042356 single base substitution C T downstream_gene_variant PACA-AU 17 5042356 5042356 single base substitution C T intron_variant PACA-AU 17 5042356 5042356 single base substitution C T stop_gained Q3* 7C>T PACA-AU 17 5043313 5043313 single base substitution C T intron_variant PACA-AU 17 5053639 5053639 single base substitution G A intron_variant PACA-AU 17 5056198 5056198 single base substitution A C intron_variant PACA-AU 17 5058042 5058042 single base substitution C A intron_variant PACA-AU 17 5068827 5068827 single base substitution G C intron_variant PACA-AU 17 5072033 5072033 single base substitution T A intron_variant PACA-AU 17 5077299 5077299 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 17 5080853 5080853 single base substitution G A downstream_gene_variant PACA-AU 17 5083236 5083236 single base substitution G A downstream_gene_variant PACA-CA 17 5015269 5015269 single base substitution C G upstream_gene_variant PACA-CA 17 5019865 5019865 single base substitution G A 5_prime_UTR_variant PACA-CA 17 5021183 5021183 single base substitution G C intron_variant PACA-CA 17 5021295 5021295 single base substitution C T intron_variant PACA-CA 17 5029131 5029131 single base substitution C T 5_prime_UTR_variant PACA-CA 17 5029131 5029131 single base substitution C T upstream_gene_variant PACA-CA 17 5032876 5032876 single base substitution G A 5_prime_UTR_variant PACA-CA 17 5032876 5032876 single base substitution G A intron_variant PACA-CA 17 5041626 5041626 single base substitution C T downstream_gene_variant PACA-CA 17 5041626 5041626 single base substitution C T intron_variant PACA-CA 17 5041655 5041655 single base substitution C T downstream_gene_variant PACA-CA 17 5041655 5041655 single base substitution C T intron_variant PACA-CA 17 5042177 5042177 single base substitution C T downstream_gene_variant PACA-CA 17 5042177 5042177 single base substitution C T intron_variant PACA-CA 17 5048237 5048237 single base substitution C A intron_variant PACA-CA 17 5052380 5052380 single base substitution T C intron_variant PACA-CA 17 5055452 5055452 single base substitution G A intron_variant PACA-CA 17 5064278 5064278 single base substitution G T intron_variant PACA-CA 17 5066756 5066756 single base substitution C A intron_variant PACA-CA 17 5067090 5067090 single base substitution C T intron_variant PACA-CA 17 5071276 5071276 single base substitution A C 3_prime_UTR_variant PACA-CA 17 5071276 5071276 single base substitution A C missense_variant E1029A 3086A>C PACA-CA 17 5071276 5071276 single base substitution A C missense_variant E712A 2135A>C PACA-CA 17 5073692 5073692 single base substitution G T intron_variant PACA-CA 17 5082387 5082387 single base substitution G A downstream_gene_variant PAEN-AU 17 5039823 5039823 single base substitution G A downstream_gene_variant PAEN-AU 17 5039823 5039823 single base substitution G A intron_variant PAEN-AU 17 5053591 5053591 insertion of <=200bp - AAATAAAT intron_variant PAEN-AU 17 5077032 5077032 single base substitution C T 3_prime_UTR_variant PAEN-AU 17 5081480 5081480 single base substitution A C downstream_gene_variant PAEN-IT 17 5028251 5028251 single base substitution G A 5_prime_UTR_variant PAEN-IT 17 5028251 5028251 single base substitution G A upstream_gene_variant PAEN-IT 17 5067373 5067373 single base substitution A T intron_variant PBCA-DE 17 5019140 5019140 single base substitution G T upstream_gene_variant PBCA-DE 17 5019649 5019649 single base substitution C A upstream_gene_variant PBCA-DE 17 5027098 5027099 deletion of <=200bp AC - intron_variant PBCA-DE 17 5027098 5027099 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 17 5035863 5035863 insertion of <=200bp - TCCCTGCT intron_variant PBCA-DE 17 5036584 5036585 deletion of <=200bp TT - intron_variant PBCA-DE 17 5037412 5037412 single base substitution T C downstream_gene_variant PBCA-DE 17 5037412 5037412 single base substitution T C exon_variant PBCA-DE 17 5037412 5037412 single base substitution T C intron_variant PBCA-DE 17 5042422 5042422 single base substitution G A 3_prime_UTR_variant PBCA-DE 17 5042422 5042422 single base substitution G A downstream_gene_variant PBCA-DE 17 5042422 5042422 single base substitution G A intron_variant PBCA-DE 17 5042422 5042422 single base substitution G A missense_variant V25I 73G>A PBCA-DE 17 5042465 5042465 single base substitution C T 3_prime_UTR_variant PBCA-DE 17 5042465 5042465 single base substitution C T downstream_gene_variant PBCA-DE 17 5042465 5042465 single base substitution C T intron_variant PBCA-DE 17 5042465 5042465 single base substitution C T missense_variant S39F 116C>T PBCA-DE 17 5043410 5043410 single base substitution A G intron_variant PBCA-DE 17 5043547 5043547 deletion of <=200bp T - intron_variant PBCA-DE 17 5052348 5052348 single base substitution G A intron_variant PBCA-DE 17 5052698 5052698 insertion of <=200bp - A intron_variant PBCA-DE 17 5054727 5054728 deletion of <=200bp TG - intron_variant PBCA-DE 17 5059599 5059599 deletion of <=200bp T - intron_variant PBCA-DE 17 5076148 5076149 deletion of <=200bp TA - 3_prime_UTR_variant PBCA-DE 17 5076148 5076149 deletion of <=200bp TA - frameshift_variant Y1049 PBCA-DE 17 5076148 5076149 deletion of <=200bp TA - frameshift_variant Y1366 PBCA-DE 17 5082920 5082920 single base substitution A C downstream_gene_variant PRAD-CA 17 5018235 5018235 single base substitution A G upstream_gene_variant PRAD-CA 17 5028978 5028978 single base substitution C T intron_variant PRAD-CA 17 5028978 5028978 single base substitution C T upstream_gene_variant PRAD-CA 17 5028981 5028981 single base substitution A G intron_variant PRAD-CA 17 5028981 5028981 single base substitution A G upstream_gene_variant PRAD-CA 17 5038716 5038716 single base substitution C T downstream_gene_variant PRAD-CA 17 5038716 5038716 single base substitution C T intron_variant PRAD-CA 17 5042590 5042590 single base substitution G A 3_prime_UTR_variant PRAD-CA 17 5042590 5042590 single base substitution G A downstream_gene_variant PRAD-CA 17 5042590 5042590 single base substitution G A exon_variant PRAD-CA 17 5042590 5042590 single base substitution G A synonymous_variant P373P 1119G>A PRAD-CA 17 5042590 5042590 single base substitution G A synonymous_variant P56P 168G>A PRAD-CA 17 5065365 5065365 single base substitution A C intron_variant PRAD-CA 17 5082198 5082198 single base substitution C A downstream_gene_variant PRAD-UK 17 5018489 5018489 single base substitution C T upstream_gene_variant PRAD-UK 17 5043870 5043870 insertion of <=200bp - A intron_variant PRAD-UK 17 5050950 5050950 single base substitution A T intron_variant PRAD-UK 17 5051077 5051077 single base substitution C A intron_variant PRAD-US 17 5033903 5033903 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PRAD-US 17 5033903 5033903 single base substitution C T exon_variant PRAD-US 17 5033903 5033903 single base substitution C T intron_variant PRAD-US 17 5033903 5033903 single base substitution C T stop_gained R27* 79C>T PRAD-US 17 5041502 5041502 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PRAD-US 17 5041502 5041502 single base substitution G A downstream_gene_variant PRAD-US 17 5041502 5041502 single base substitution G A exon_variant PRAD-US 17 5041502 5041502 single base substitution G A missense_variant V338M 1012G>A READ-US 17 5037241 5037241 single base substitution G A 5_prime_UTR_variant READ-US 17 5037241 5037241 single base substitution G A downstream_gene_variant READ-US 17 5037241 5037241 single base substitution G A exon_variant READ-US 17 5037241 5037241 single base substitution G A synonymous_variant V148V 444G>A RECA-EU 17 5023087 5023087 single base substitution C G intron_variant RECA-EU 17 5029027 5029027 single base substitution A T intron_variant RECA-EU 17 5029027 5029027 single base substitution A T upstream_gene_variant RECA-EU 17 5048726 5048726 single base substitution T C 3_prime_UTR_variant RECA-EU 17 5048726 5048726 single base substitution T C exon_variant RECA-EU 17 5048726 5048726 single base substitution T C synonymous_variant N356N 1068T>C RECA-EU 17 5048726 5048726 single base substitution T C synonymous_variant N673N 2019T>C RECA-EU 17 5052347 5052347 single base substitution C T intron_variant RECA-EU 17 5070082 5070082 single base substitution T G intron_variant SKCA-BR 17 5014968 5014968 single base substitution A C upstream_gene_variant SKCA-BR 17 5017945 5017945 single base substitution T G upstream_gene_variant SKCA-BR 17 5018477 5018477 single base substitution T G upstream_gene_variant SKCA-BR 17 5019347 5019347 single base substitution G A upstream_gene_variant SKCA-BR 17 5020810 5020810 insertion of <=200bp - CA intron_variant SKCA-BR 17 5021363 5021363 insertion of <=200bp - CA intron_variant SKCA-BR 17 5021576 5021576 single base substitution G C 5_prime_UTR_variant SKCA-BR 17 5022378 5022378 single base substitution T A intron_variant SKCA-BR 17 5023239 5023239 single base substitution C T intron_variant SKCA-BR 17 5023531 5023531 single base substitution T C intron_variant SKCA-BR 17 5025874 5025874 single base substitution T C intron_variant SKCA-BR 17 5026157 5026157 single base substitution T G intron_variant SKCA-BR 17 5027563 5027563 single base substitution G A intron_variant SKCA-BR 17 5027563 5027563 single base substitution G A upstream_gene_variant SKCA-BR 17 5028512 5028512 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 5028512 5028512 single base substitution G A upstream_gene_variant SKCA-BR 17 5028972 5028972 single base substitution T C intron_variant SKCA-BR 17 5028972 5028972 single base substitution T C upstream_gene_variant SKCA-BR 17 5028973 5028973 insertion of <=200bp - GCACACA intron_variant SKCA-BR 17 5028973 5028973 insertion of <=200bp - GCACACA upstream_gene_variant SKCA-BR 17 5029633 5029633 single base substitution A C intron_variant SKCA-BR 17 5029633 5029633 single base substitution A C upstream_gene_variant SKCA-BR 17 5030243 5030243 single base substitution G A intron_variant SKCA-BR 17 5030243 5030243 single base substitution G A upstream_gene_variant SKCA-BR 17 5030307 5030307 single base substitution A C intron_variant SKCA-BR 17 5030307 5030307 single base substitution A C upstream_gene_variant SKCA-BR 17 5030380 5030380 single base substitution C T intron_variant SKCA-BR 17 5030380 5030380 single base substitution C T upstream_gene_variant SKCA-BR 17 5030987 5030987 single base substitution C T intron_variant SKCA-BR 17 5030987 5030987 single base substitution C T upstream_gene_variant SKCA-BR 17 5032368 5032368 single base substitution C T 5_prime_UTR_variant SKCA-BR 17 5032368 5032368 single base substitution C T intron_variant SKCA-BR 17 5033743 5033743 single base substitution C T intron_variant SKCA-BR 17 5034837 5034837 single base substitution C T intron_variant SKCA-BR 17 5036911 5036911 single base substitution G A downstream_gene_variant SKCA-BR 17 5036911 5036911 single base substitution G A intron_variant SKCA-BR 17 5037537 5037537 single base substitution C T downstream_gene_variant SKCA-BR 17 5037537 5037537 single base substitution C T exon_variant SKCA-BR 17 5037537 5037537 single base substitution C T intron_variant SKCA-BR 17 5039967 5039967 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 5039967 5039967 single base substitution G A downstream_gene_variant SKCA-BR 17 5039967 5039967 single base substitution G A exon_variant SKCA-BR 17 5039967 5039967 single base substitution G A missense_variant G233R 697G>A SKCA-BR 17 5040675 5040675 single base substitution G A downstream_gene_variant SKCA-BR 17 5040675 5040675 single base substitution G A intron_variant SKCA-BR 17 5041223 5041223 single base substitution G A downstream_gene_variant SKCA-BR 17 5041223 5041223 single base substitution G A intron_variant SKCA-BR 17 5043925 5043925 single base substitution G A intron_variant SKCA-BR 17 5045411 5045411 single base substitution G T 3_prime_UTR_variant SKCA-BR 17 5045411 5045411 single base substitution G T exon_variant SKCA-BR 17 5045411 5045411 single base substitution G T missense_variant G246W 736G>T SKCA-BR 17 5045411 5045411 single base substitution G T missense_variant G563W 1687G>T SKCA-BR 17 5045910 5045910 single base substitution C T intron_variant SKCA-BR 17 5046614 5046614 single base substitution A G intron_variant SKCA-BR 17 5047046 5047047 deletion of <=200bp TA - intron_variant SKCA-BR 17 5047147 5047147 single base substitution G A intron_variant SKCA-BR 17 5049180 5049180 single base substitution A T intron_variant SKCA-BR 17 5049303 5049303 single base substitution T C intron_variant SKCA-BR 17 5049305 5049305 single base substitution T C intron_variant SKCA-BR 17 5052495 5052495 single base substitution C T intron_variant SKCA-BR 17 5054425 5054425 single base substitution T C intron_variant SKCA-BR 17 5054615 5054615 single base substitution G A intron_variant SKCA-BR 17 5054966 5054966 single base substitution T A intron_variant SKCA-BR 17 5056946 5056946 single base substitution C T intron_variant SKCA-BR 17 5057163 5057163 single base substitution C T intron_variant SKCA-BR 17 5059773 5059773 single base substitution G T intron_variant SKCA-BR 17 5059830 5059830 single base substitution A C intron_variant SKCA-BR 17 5063258 5063259 deletion of <=200bp CA - intron_variant SKCA-BR 17 5065470 5065470 single base substitution G A intron_variant SKCA-BR 17 5065902 5065902 single base substitution T C intron_variant SKCA-BR 17 5066951 5066951 single base substitution G A intron_variant SKCA-BR 17 5072387 5072387 single base substitution G A intron_variant SKCA-BR 17 5072548 5072548 single base substitution G A intron_variant SKCA-BR 17 5072793 5072793 single base substitution C G intron_variant SKCA-BR 17 5073466 5073466 single base substitution C T intron_variant SKCA-BR 17 5073850 5073850 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 5073850 5073850 single base substitution G A synonymous_variant R1198R 3594G>A SKCA-BR 17 5073850 5073850 single base substitution G A synonymous_variant R881R 2643G>A SKCA-BR 17 5076115 5076115 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 5076115 5076115 single base substitution G A missense_variant E1038K 3112G>A SKCA-BR 17 5076115 5076115 single base substitution G A missense_variant E1355K 4063G>A SKCA-BR 17 5076250 5076250 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 5076250 5076250 single base substitution G A missense_variant E1083K 3247G>A SKCA-BR 17 5076250 5076250 single base substitution G A missense_variant E1400K 4198G>A SKCA-BR 17 5078884 5078884 single base substitution A G downstream_gene_variant SKCA-BR 17 5079259 5079259 single base substitution G A downstream_gene_variant SKCA-BR 17 5080492 5080492 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 17 5082126 5082126 single base substitution G A downstream_gene_variant SKCA-BR 17 5082925 5082925 single base substitution G A downstream_gene_variant SKCA-BR 17 5083151 5083151 single base substitution G A downstream_gene_variant SKCM-US 17 5036231 5036231 single base substitution G A 5_prime_UTR_variant SKCM-US 17 5036231 5036231 single base substitution G A exon_variant SKCM-US 17 5036231 5036231 single base substitution G A synonymous_variant T74T 222G>A SKCM-US 17 5036747 5036747 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 17 5036747 5036747 single base substitution C T exon_variant SKCM-US 17 5036747 5036747 single base substitution C T stop_gained R96* 286C>T SKCM-US 17 5038536 5038536 single base substitution G A 5_prime_UTR_variant SKCM-US 17 5038536 5038536 single base substitution G A downstream_gene_variant SKCM-US 17 5038536 5038536 single base substitution G A exon_variant SKCM-US 17 5038536 5038536 single base substitution G A missense_variant E168K 502G>A SKCM-US 17 5039137 5039137 single base substitution C T 5_prime_UTR_variant SKCM-US 17 5039137 5039137 single base substitution C T downstream_gene_variant SKCM-US 17 5039137 5039137 single base substitution C T exon_variant SKCM-US 17 5039137 5039137 single base substitution C T missense_variant T193I 578C>T SKCM-US 17 5039147 5039147 single base substitution C T 5_prime_UTR_variant SKCM-US 17 5039147 5039147 single base substitution C T downstream_gene_variant SKCM-US 17 5039147 5039147 single base substitution C T exon_variant SKCM-US 17 5039147 5039147 single base substitution C T synonymous_variant F196F 588C>T SKCM-US 17 5039181 5039181 single base substitution G A 5_prime_UTR_variant SKCM-US 17 5039181 5039181 single base substitution G A downstream_gene_variant SKCM-US 17 5039181 5039181 single base substitution G A exon_variant SKCM-US 17 5039181 5039181 single base substitution G A missense_variant A208T 622G>A SKCM-US 17 5039961 5039961 single base substitution G A 5_prime_UTR_variant SKCM-US 17 5039961 5039961 single base substitution G A downstream_gene_variant SKCM-US 17 5039961 5039961 single base substitution G A exon_variant SKCM-US 17 5039961 5039961 single base substitution G A missense_variant V231I 691G>A SKCM-US 17 5040009 5040009 single base substitution C T 5_prime_UTR_variant SKCM-US 17 5040009 5040009 single base substitution C T downstream_gene_variant SKCM-US 17 5040009 5040009 single base substitution C T exon_variant SKCM-US 17 5040009 5040009 single base substitution C T missense_variant P247S 739C>T SKCM-US 17 5041445 5041445 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 17 5041445 5041445 single base substitution C T downstream_gene_variant SKCM-US 17 5041445 5041445 single base substitution C T exon_variant SKCM-US 17 5041445 5041445 single base substitution C T synonymous_variant L319L 955C>T SKCM-US 17 5041493 5041493 single base substitution G A 5_prime_UTR_variant SKCM-US 17 5041493 5041493 single base substitution G A downstream_gene_variant SKCM-US 17 5041493 5041493 single base substitution G A exon_variant SKCM-US 17 5041493 5041493 single base substitution G A missense_variant D335N 1003G>A SKCM-US 17 5042699 5042699 single base substitution C T 3_prime_UTR_variant SKCM-US 17 5042699 5042699 single base substitution C T downstream_gene_variant SKCM-US 17 5042699 5042699 single base substitution C T exon_variant SKCM-US 17 5042699 5042699 single base substitution C T missense_variant R410C 1228C>T SKCM-US 17 5042699 5042699 single base substitution C T missense_variant R93C 277C>T SKCM-US 17 5042803 5042803 single base substitution T C 3_prime_UTR_variant SKCM-US 17 5042803 5042803 single base substitution T C downstream_gene_variant SKCM-US 17 5042803 5042803 single base substitution T C exon_variant SKCM-US 17 5042803 5042803 single base substitution T C synonymous_variant G127G 381T>C SKCM-US 17 5042803 5042803 single base substitution T C synonymous_variant G444G 1332T>C SKCM-US 17 5042816 5042816 single base substitution C T 3_prime_UTR_variant SKCM-US 17 5042816 5042816 single base substitution C T downstream_gene_variant SKCM-US 17 5042816 5042816 single base substitution C T exon_variant SKCM-US 17 5042816 5042816 single base substitution C T synonymous_variant L132L 394C>T SKCM-US 17 5042816 5042816 single base substitution C T synonymous_variant L449L 1345C>T SKCM-US 17 5042836 5042836 single base substitution C T 3_prime_UTR_variant SKCM-US 17 5042836 5042836 single base substitution C T downstream_gene_variant SKCM-US 17 5042836 5042836 single base substitution C T exon_variant SKCM-US 17 5042836 5042836 single base substitution C T synonymous_variant P138P 414C>T SKCM-US 17 5042836 5042836 single base substitution C T synonymous_variant P455P 1365C>T SKCM-US 17 5042876 5042876 single base substitution C T 3_prime_UTR_variant SKCM-US 17 5042876 5042876 single base substitution C T downstream_gene_variant SKCM-US 17 5042876 5042876 single base substitution C T exon_variant SKCM-US 17 5042876 5042876 single base substitution C T missense_variant P152S 454C>T SKCM-US 17 5042876 5042876 single base substitution C T missense_variant P469S 1405C>T SKCM-US 17 5042908 5042908 single base substitution C T 3_prime_UTR_variant SKCM-US 17 5042908 5042908 single base substitution C T downstream_gene_variant SKCM-US 17 5042908 5042908 single base substitution C T exon_variant SKCM-US 17 5042908 5042908 single base substitution C T synonymous_variant V162V 486C>T SKCM-US 17 5042908 5042908 single base substitution C T synonymous_variant V479V 1437C>T SKCM-US 17 5045313 5045313 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5045313 5045313 single base substitution G A exon_variant SKCM-US 17 5045313 5045313 single base substitution G A missense_variant G213E 638G>A SKCM-US 17 5045313 5045313 single base substitution G A missense_variant G530E 1589G>A SKCM-US 17 5045411 5045411 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5045411 5045411 single base substitution G A exon_variant SKCM-US 17 5045411 5045411 single base substitution G A missense_variant G246R 736G>A SKCM-US 17 5045411 5045411 single base substitution G A missense_variant G563R 1687G>A SKCM-US 17 5045413 5045413 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5045413 5045413 single base substitution G A exon_variant SKCM-US 17 5045413 5045413 single base substitution G A synonymous_variant G246G 738G>A SKCM-US 17 5045413 5045413 single base substitution G A synonymous_variant G563G 1689G>A SKCM-US 17 5045710 5045710 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5045710 5045710 single base substitution G A exon_variant SKCM-US 17 5045710 5045710 single base substitution G A missense_variant M260I 780G>A SKCM-US 17 5045710 5045710 single base substitution G A missense_variant M577I 1731G>A SKCM-US 17 5048111 5048111 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5048111 5048111 single base substitution G A exon_variant SKCM-US 17 5048111 5048111 single base substitution G A missense_variant E332K 994G>A SKCM-US 17 5048111 5048111 single base substitution G A missense_variant E649K 1945G>A SKCM-US 17 5048150 5048150 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5048150 5048150 single base substitution G A exon_variant SKCM-US 17 5048150 5048150 single base substitution G A missense_variant A345T 1033G>A SKCM-US 17 5048150 5048150 single base substitution G A missense_variant A662T 1984G>A SKCM-US 17 5048705 5048705 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5048705 5048705 single base substitution G A exon_variant SKCM-US 17 5048705 5048705 single base substitution G A stop_gained W349* 1047G>A SKCM-US 17 5048705 5048705 single base substitution G A stop_gained W666* 1998G>A SKCM-US 17 5049436 5049436 single base substitution C T 3_prime_UTR_variant SKCM-US 17 5049436 5049436 single base substitution C T exon_variant SKCM-US 17 5049436 5049436 single base substitution C T synonymous_variant I445I 1335C>T SKCM-US 17 5049436 5049436 single base substitution C T synonymous_variant I762I 2286C>T SKCM-US 17 5050444 5050444 single base substitution C T 3_prime_UTR_variant SKCM-US 17 5050444 5050444 single base substitution C T intron_variant SKCM-US 17 5050444 5050444 single base substitution C T missense_variant P479S 1435C>T SKCM-US 17 5050444 5050444 single base substitution C T missense_variant P796S 2386C>T SKCM-US 17 5050466 5050466 single base substitution C T 3_prime_UTR_variant SKCM-US 17 5050466 5050466 single base substitution C T intron_variant SKCM-US 17 5050466 5050466 single base substitution C T missense_variant S486L 1457C>T SKCM-US 17 5050466 5050466 single base substitution C T missense_variant S803L 2408C>T SKCM-US 17 5051934 5051934 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5051934 5051934 single base substitution G A missense_variant G522R 1564G>A SKCM-US 17 5051934 5051934 single base substitution G A missense_variant G839R 2515G>A SKCM-US 17 5052055 5052055 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5052055 5052055 single base substitution G A missense_variant R562Q 1685G>A SKCM-US 17 5052055 5052055 single base substitution G A missense_variant R879Q 2636G>A SKCM-US 17 5058737 5058737 single base substitution C T 3_prime_UTR_variant SKCM-US 17 5058737 5058737 single base substitution C T synonymous_variant F571F 1713C>T SKCM-US 17 5058737 5058737 single base substitution C T synonymous_variant F888F 2664C>T SKCM-US 17 5058756 5058756 single base substitution C T 3_prime_UTR_variant SKCM-US 17 5058756 5058756 single base substitution C T missense_variant R578C 1732C>T SKCM-US 17 5058756 5058756 single base substitution C T missense_variant R895C 2683C>T SKCM-US 17 5058771 5058771 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5058771 5058771 single base substitution G A missense_variant G583R 1747G>A SKCM-US 17 5058771 5058771 single base substitution G A missense_variant G900R 2698G>A SKCM-US 17 5058874 5058874 single base substitution A C 3_prime_UTR_variant SKCM-US 17 5058874 5058874 single base substitution A C missense_variant Q617P 1850A>C SKCM-US 17 5058874 5058874 single base substitution A C missense_variant Q934P 2801A>C SKCM-US 17 5058900 5058900 single base substitution C T missense_variant R626C 1876C>T SKCM-US 17 5058900 5058900 single base substitution C T missense_variant R943C 2827C>T SKCM-US 17 5058900 5058900 single base substitution C T splice_region_variant SKCM-US 17 5064849 5064849 single base substitution C T 3_prime_UTR_variant SKCM-US 17 5064849 5064849 single base substitution C T missense_variant P635L 1904C>T SKCM-US 17 5064849 5064849 single base substitution C T missense_variant P952L 2855C>T SKCM-US 17 5064879 5064879 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5064879 5064879 single base substitution G A missense_variant G645E 1934G>A SKCM-US 17 5064879 5064879 single base substitution G A missense_variant G962E 2885G>A SKCM-US 17 5066201 5066201 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5066201 5066201 single base substitution G A missense_variant D663N 1987G>A SKCM-US 17 5066201 5066201 single base substitution G A missense_variant D980N 2938G>A SKCM-US 17 5071275 5071275 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5071275 5071275 single base substitution G A missense_variant E1029K 3085G>A SKCM-US 17 5071275 5071275 single base substitution G A missense_variant E712K 2134G>A SKCM-US 17 5072137 5072137 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5072137 5072137 single base substitution G A missense_variant E1102K 3304G>A SKCM-US 17 5072137 5072137 single base substitution G A missense_variant E785K 2353G>A SKCM-US 17 5073801 5073801 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5073801 5073801 single base substitution G A missense_variant G1182E 3545G>A SKCM-US 17 5073801 5073801 single base substitution G A missense_variant G865E 2594G>A SKCM-US 17 5073951 5073951 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5073951 5073951 single base substitution G A missense_variant G1232E 3695G>A SKCM-US 17 5073951 5073951 single base substitution G A missense_variant G915E 2744G>A SKCM-US 17 5074166 5074166 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5074166 5074166 single base substitution G A missense_variant E1304K 3910G>A SKCM-US 17 5074166 5074166 single base substitution G A missense_variant E987K 2959G>A SKCM-US 17 5076112 5076112 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5076112 5076112 single base substitution G A missense_variant D1037N 3109G>A SKCM-US 17 5076112 5076112 single base substitution G A missense_variant D1354N 4060G>A SKCM-US 17 5076225 5076225 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5076225 5076225 single base substitution G A synonymous_variant T1074T 3222G>A SKCM-US 17 5076225 5076225 single base substitution G A synonymous_variant T1391T 4173G>A SKCM-US 17 5076250 5076250 single base substitution G A 3_prime_UTR_variant SKCM-US 17 5076250 5076250 single base substitution G A missense_variant E1083K 3247G>A SKCM-US 17 5076250 5076250 single base substitution G A missense_variant E1400K 4198G>A STAD-US 17 5036240 5036240 single base substitution G C 5_prime_UTR_variant STAD-US 17 5036240 5036240 single base substitution G C exon_variant STAD-US 17 5036240 5036240 single base substitution G C missense_variant W77C 231G>C STAD-US 17 5039162 5039162 single base substitution T C 5_prime_UTR_variant STAD-US 17 5039162 5039162 single base substitution T C downstream_gene_variant STAD-US 17 5039162 5039162 single base substitution T C exon_variant STAD-US 17 5039162 5039162 single base substitution T C synonymous_variant P201P 603T>C STAD-US 17 5041042 5041042 single base substitution C T 5_prime_UTR_variant STAD-US 17 5041042 5041042 single base substitution C T downstream_gene_variant STAD-US 17 5041042 5041042 single base substitution C T exon_variant STAD-US 17 5041042 5041042 single base substitution C T stop_gained Q308* 922C>T STAD-US 17 5041418 5041418 single base substitution C T downstream_gene_variant STAD-US 17 5041418 5041418 single base substitution C T missense_variant R310C 928C>T STAD-US 17 5041418 5041418 single base substitution C T splice_region_variant STAD-US 17 5041523 5041523 single base substitution T G 5_prime_UTR_variant STAD-US 17 5041523 5041523 single base substitution T G downstream_gene_variant STAD-US 17 5041523 5041523 single base substitution T G exon_variant STAD-US 17 5041523 5041523 single base substitution T G missense_variant S345A 1033T>G STAD-US 17 5041527 5041527 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 17 5041527 5041527 single base substitution C T downstream_gene_variant STAD-US 17 5041527 5041527 single base substitution C T exon_variant STAD-US 17 5041527 5041527 single base substitution C T missense_variant T346M 1037C>T STAD-US 17 5042569 5042569 single base substitution C A 3_prime_UTR_variant STAD-US 17 5042569 5042569 single base substitution C A downstream_gene_variant STAD-US 17 5042569 5042569 single base substitution C A exon_variant STAD-US 17 5042569 5042569 single base substitution C A synonymous_variant S366S 1098C>A STAD-US 17 5042569 5042569 single base substitution C A synonymous_variant S49S 147C>A STAD-US 17 5042837 5042837 single base substitution C T 3_prime_UTR_variant STAD-US 17 5042837 5042837 single base substitution C T downstream_gene_variant STAD-US 17 5042837 5042837 single base substitution C T exon_variant STAD-US 17 5042837 5042837 single base substitution C T missense_variant R139W 415C>T STAD-US 17 5042837 5042837 single base substitution C T missense_variant R456W 1366C>T STAD-US 17 5044777 5044777 single base substitution A C 3_prime_UTR_variant STAD-US 17 5044777 5044777 single base substitution A C exon_variant STAD-US 17 5044777 5044777 single base substitution A C missense_variant K202T 605A>C STAD-US 17 5044777 5044777 single base substitution A C missense_variant K519T 1556A>C STAD-US 17 5048857 5048857 single base substitution T C 3_prime_UTR_variant STAD-US 17 5048857 5048857 single base substitution T C exon_variant STAD-US 17 5048857 5048857 single base substitution T C missense_variant M400T 1199T>C STAD-US 17 5048857 5048857 single base substitution T C missense_variant M717T 2150T>C STAD-US 17 5049390 5049390 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 17 5049390 5049390 insertion of <=200bp - A exon_variant STAD-US 17 5049390 5049390 insertion of <=200bp - A frameshift_variant L430Y? STAD-US 17 5049390 5049390 insertion of <=200bp - A frameshift_variant L747Y? STAD-US 17 5049391 5049391 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 17 5049391 5049391 insertion of <=200bp - A exon_variant STAD-US 17 5049391 5049391 insertion of <=200bp - A frameshift_variant L430L? STAD-US 17 5049391 5049391 insertion of <=200bp - A frameshift_variant L747L? STAD-US 17 5050419 5050419 single base substitution C T 3_prime_UTR_variant STAD-US 17 5050419 5050419 single base substitution C T intron_variant STAD-US 17 5050419 5050419 single base substitution C T synonymous_variant S470S 1410C>T STAD-US 17 5050419 5050419 single base substitution C T synonymous_variant S787S 2361C>T STAD-US 17 5058884 5058884 single base substitution T C 3_prime_UTR_variant STAD-US 17 5058884 5058884 single base substitution T C synonymous_variant S620S 1860T>C STAD-US 17 5058884 5058884 single base substitution T C synonymous_variant S937S 2811T>C STAD-US 17 5071348 5071348 single base substitution A G 3_prime_UTR_variant STAD-US 17 5071348 5071348 single base substitution A G missense_variant Y1053C 3158A>G STAD-US 17 5071348 5071348 single base substitution A G missense_variant Y736C 2207A>G STAD-US 17 5072211 5072211 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 17 5072211 5072211 deletion of <=200bp G - frameshift_variant Q1126 STAD-US 17 5072211 5072211 deletion of <=200bp G - frameshift_variant Q809 STAD-US 17 5073913 5073913 single base substitution A G 3_prime_UTR_variant STAD-US 17 5073913 5073913 single base substitution A G synonymous_variant S1219S 3657A>G STAD-US 17 5073913 5073913 single base substitution A G synonymous_variant S902S 2706A>G THCA-SA 17 5083008 5083008 single base substitution T C downstream_gene_variant THCA-US 17 5076150 5076150 single base substitution T A 3_prime_UTR_variant THCA-US 17 5076150 5076150 single base substitution T A stop_gained Y1049* 3147T>A THCA-US 17 5076150 5076150 single base substitution T A stop_gained Y1366* 4098T>A UCEC-US 17 5036227 5036227 single base substitution G A 5_prime_UTR_variant UCEC-US 17 5036227 5036227 single base substitution G A exon_variant UCEC-US 17 5036227 5036227 single base substitution G A missense_variant R73Q 218G>A UCEC-US 17 5038539 5038539 single base substitution C T 5_prime_UTR_variant UCEC-US 17 5038539 5038539 single base substitution C T downstream_gene_variant UCEC-US 17 5038539 5038539 single base substitution C T exon_variant UCEC-US 17 5038539 5038539 single base substitution C T synonymous_variant L169L 505C>T UCEC-US 17 5041492 5041492 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 17 5041492 5041492 single base substitution C T downstream_gene_variant UCEC-US 17 5041492 5041492 single base substitution C T exon_variant UCEC-US 17 5041492 5041492 single base substitution C T synonymous_variant N334N 1002C>T UCEC-US 17 5041514 5041514 single base substitution C A 5_prime_UTR_variant UCEC-US 17 5041514 5041514 single base substitution C A downstream_gene_variant UCEC-US 17 5041514 5041514 single base substitution C A exon_variant UCEC-US 17 5041514 5041514 single base substitution C A missense_variant L342I 1024C>A UCEC-US 17 5041531 5041531 single base substitution G T 5_prime_UTR_variant UCEC-US 17 5041531 5041531 single base substitution G T downstream_gene_variant UCEC-US 17 5041531 5041531 single base substitution G T exon_variant UCEC-US 17 5041531 5041531 single base substitution G T missense_variant K347N 1041G>T UCEC-US 17 5042665 5042665 single base substitution G A 3_prime_UTR_variant UCEC-US 17 5042665 5042665 single base substitution G A downstream_gene_variant UCEC-US 17 5042665 5042665 single base substitution G A exon_variant UCEC-US 17 5042665 5042665 single base substitution G A synonymous_variant R398R 1194G>A UCEC-US 17 5042665 5042665 single base substitution G A synonymous_variant R81R 243G>A UCEC-US 17 5044782 5044782 single base substitution G T 3_prime_UTR_variant UCEC-US 17 5044782 5044782 single base substitution G T exon_variant UCEC-US 17 5044782 5044782 single base substitution G T missense_variant D204Y 610G>T UCEC-US 17 5044782 5044782 single base substitution G T missense_variant D521Y 1561G>T UCEC-US 17 5047993 5047993 single base substitution A G 3_prime_UTR_variant UCEC-US 17 5047993 5047993 single base substitution A G exon_variant UCEC-US 17 5047993 5047993 single base substitution A G missense_variant I292M 876A>G UCEC-US 17 5047993 5047993 single base substitution A G missense_variant I609M 1827A>G UCEC-US 17 5048042 5048042 single base substitution G T 3_prime_UTR_variant UCEC-US 17 5048042 5048042 single base substitution G T exon_variant UCEC-US 17 5048042 5048042 single base substitution G T stop_gained E309* 925G>T UCEC-US 17 5048042 5048042 single base substitution G T stop_gained E626* 1876G>T UCEC-US 17 5048728 5048728 single base substitution G T 3_prime_UTR_variant UCEC-US 17 5048728 5048728 single base substitution G T exon_variant UCEC-US 17 5048728 5048728 single base substitution G T missense_variant R357I 1070G>T UCEC-US 17 5048728 5048728 single base substitution G T missense_variant R674I 2021G>T UCEC-US 17 5049395 5049395 single base substitution A C 3_prime_UTR_variant UCEC-US 17 5049395 5049395 single base substitution A C exon_variant UCEC-US 17 5049395 5049395 single base substitution A C missense_variant K432Q 1294A>C UCEC-US 17 5049395 5049395 single base substitution A C missense_variant K749Q 2245A>C UCEC-US 17 5049440 5049440 single base substitution C T 3_prime_UTR_variant UCEC-US 17 5049440 5049440 single base substitution C T exon_variant UCEC-US 17 5049440 5049440 single base substitution C T synonymous_variant L447L 1339C>T UCEC-US 17 5049440 5049440 single base substitution C T synonymous_variant L764L 2290C>T UCEC-US 17 5050477 5050477 single base substitution C G 3_prime_UTR_variant UCEC-US 17 5050477 5050477 single base substitution C G intron_variant UCEC-US 17 5050477 5050477 single base substitution C G missense_variant P490A 1468C>G UCEC-US 17 5050477 5050477 single base substitution C G missense_variant P807A 2419C>G UCEC-US 17 5058809 5058809 single base substitution G T 3_prime_UTR_variant UCEC-US 17 5058809 5058809 single base substitution G T synonymous_variant R595R 1785G>T UCEC-US 17 5058809 5058809 single base substitution G T synonymous_variant R912R 2736G>T UCEC-US 17 5064875 5064875 single base substitution G T 3_prime_UTR_variant UCEC-US 17 5064875 5064875 single base substitution G T missense_variant D644Y 1930G>T UCEC-US 17 5064875 5064875 single base substitution G T missense_variant D961Y 2881G>T UCEC-US 17 5071302 5071302 single base substitution C T 3_prime_UTR_variant UCEC-US 17 5071302 5071302 single base substitution C T missense_variant R1038C 3112C>T UCEC-US 17 5071302 5071302 single base substitution C T missense_variant R721C 2161C>T UCEC-US 17 5071323 5071323 single base substitution G T 3_prime_UTR_variant UCEC-US 17 5071323 5071323 single base substitution G T stop_gained E1045* 3133G>T UCEC-US 17 5071323 5071323 single base substitution G T stop_gained E728* 2182G>T UCEC-US 17 5072182 5072182 single base substitution C A 3_prime_UTR_variant UCEC-US 17 5072182 5072182 single base substitution C A missense_variant L1117I 3349C>A UCEC-US 17 5072182 5072182 single base substitution C A missense_variant L800I 2398C>A UCEC-US 17 5072277 5072277 single base substitution G A 3_prime_UTR_variant UCEC-US 17 5072277 5072277 single base substitution G A synonymous_variant S1148S 3444G>A UCEC-US 17 5072277 5072277 single base substitution G A synonymous_variant S831S 2493G>A UCEC-US 17 5072305 5072305 single base substitution A T 3_prime_UTR_variant UCEC-US 17 5072305 5072305 single base substitution A T stop_gained K1158* 3472A>T UCEC-US 17 5072305 5072305 single base substitution A T stop_gained K841* 2521A>T UCEC-US 17 5072326 5072326 single base substitution G A 3_prime_UTR_variant UCEC-US 17 5072326 5072326 single base substitution G A missense_variant A1165T 3493G>A UCEC-US 17 5072326 5072326 single base substitution G A missense_variant A848T 2542G>A UCEC-US 17 5073773 5073773 single base substitution G T splice_acceptor_variant UCEC-US 17 5073780 5073782 deletion of <=200bp CTT - 3_prime_UTR_variant UCEC-US 17 5073780 5073782 deletion of <=200bp CTT - inframe_deletion PS1175P UCEC-US 17 5073780 5073782 deletion of <=200bp CTT - inframe_deletion PS858P UCEC-US 17 5073840 5073840 single base substitution G T 3_prime_UTR_variant UCEC-US 17 5073840 5073840 single base substitution G T missense_variant S1195I 3584G>T UCEC-US 17 5073840 5073840 single base substitution G T missense_variant S878I 2633G>T UCEC-US 17 5073925 5073925 single base substitution G A 3_prime_UTR_variant UCEC-US 17 5073925 5073925 single base substitution G A synonymous_variant K1223K 3669G>A UCEC-US 17 5073925 5073925 single base substitution G A synonymous_variant K906K 2718G>A UCEC-US 17 5073925 5073925 single base substitution G T 3_prime_UTR_variant UCEC-US 17 5073925 5073925 single base substitution G T missense_variant K1223N 3669G>T UCEC-US 17 5073925 5073925 single base substitution G T missense_variant K906N 2718G>T UCEC-US 17 5074001 5074001 single base substitution C T 3_prime_UTR_variant UCEC-US 17 5074001 5074001 single base substitution C T missense_variant R1249W 3745C>T UCEC-US 17 5074001 5074001 single base substitution C T missense_variant R932W 2794C>T UCEC-US 17 5074102 5074102 single base substitution C T 3_prime_UTR_variant UCEC-US 17 5074102 5074102 single base substitution C T synonymous_variant G1282G 3846C>T UCEC-US 17 5074102 5074102 single base substitution C T synonymous_variant G965G 2895C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand UM-SCC-4 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + TCGA-IR-A3LF-01 COSM4849458 c.1589G>T p.G530V Substitution - Missense 17:5142018-5142018 + UM-SCC-11B COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + sysucc-809T COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + CN-AML-CR-53-Dx COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + Padua001 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + PTC-6C COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + 24T COSM106706 c.444G>A p.V148V Substitution - coding silent 17:5133946-5133946 + 93VU147T COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + UD-SCC-2 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + PT16_1 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + CSCC-52-T COSM3193539 c.192G>A p.A64A Substitution - coding silent 17:5132432-5132432 + BICR_22 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + PTC-46C COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + SCC-15 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + 1_RESISTANT COSM981449 c.1876G>T p.E626* Substitution - Nonsense 17:5144747-5144747 + U373 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + PTC-1C COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + NB-1194 COSM1288866 c.1065C>T p.D355D Substitution - coding silent 17:5138260-5138260 + PT17_1 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + LUAD-F00089 COSM339653 c.557G>A p.C186Y Substitution - Missense 17:5135821-5135821 + TCGA-G4-6302-01 COSM3755674 c.579C>T p.T193T Substitution - coding silent 17:5135843-5135843 + PT44 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + LN229 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + 1N21-VS-1T21 COSM4401404 c.955C>T p.L319L Substitution - coding silent 17:5138150-5138150 + WSU-HN6 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + LN229 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + SCC-25 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + LUAD-CHTN-MAD06-00668 COSM359053 c.698G>T p.G233V Substitution - Missense 17:5136673-5136673 + TCGA-AG-3586-01 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + TCGA-D3-A51F-06 COSM3519579 c.1332T>C p.G444G Substitution - coding silent 17:5139508-5139508 + ORL-48 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + CAL33 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + PT49 COSM4899064 c.1003G>A p.D335N Substitution - Missense 17:5138198-5138198 + PTC-77C COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + ORL-48 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + UM-SCC-17B COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + S00022 COSM316422 c.823G>T p.G275W Substitution - Missense 17:5137184-5137184 + TCGA-BH-A0B6-01 COSM3820009 c.618C>G p.F206L Substitution - Missense 17:5135882-5135882 + U343 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + Detroit_562 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + CSCC-47-T COSM4541406 c.299G>A p.G100E Substitution - Missense 17:5133465-5133465 + HN24PT COSM97200 c.16delA p.N6fs*15 Deletion - Frameshift 17:5130383-5130383 + RK308_C01 COSM3742327 c.1244G>A p.C415Y Substitution - Missense 17:5139420-5139420 + 93VU147T COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + U87 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + 2461402 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + SCC-25 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + UM-SCC-17B COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + NOKSI COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + LN229 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + LB647-SCLC COSM25356 c.1366C>T p.R456W Substitution - Missense 17:5139542-5139542 + PT35 COSM5913966 c.163G>A p.E55K Substitution - Missense 17:5132403-5132403 + ZZUFHECRKL-G028T COSM5437540 c.1855T>G p.F619V Substitution - Missense 17:5144726-5144726 + 2492726 COSM5725081 c.1151G>A p.G384E Substitution - Missense 17:5139327-5139327 + SCC-25 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + CAL33 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + TCGA-AA-A01P-01 COSM5121755 c.1390delG p.G465fs*41 Deletion - Frameshift 17:5139566-5139566 + CN-AML-CR-63-Dx COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + SCC-15 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + PS-352-3D COSM4424073 c.1731G>C p.M577I Substitution - Missense 17:5142415-5142415 + PT53 COSM4000202 c.384+4T>C p.? Unknown 17:5133554-5133554 + UM-SCC-17B COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + 526LT COSM25356 c.1366C>T p.R456W Substitution - Missense 17:5139542-5139542 + PT19_2 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + 93VU147T COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + UPCI:SCC090 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + 198T COSM1726537 c.44G>A p.R15Q Substitution - Missense 17:5130411-5130411 + T98G COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + CN-AML-NR-08-Dx COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + Au10 COSM5598929 c.1053G>A p.R351R Substitution - coding silent 17:5138248-5138248 + UM-SCC-47 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + SCC-25 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + TCGA-13-1408-01 COSM106706 c.444G>A p.V148V Substitution - coding silent 17:5133946-5133946 + UM-SCC-11B COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + 2461404 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + CN-AML-08-T COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + TCGA-BR-8360-01 COSM4067877 c.1037C>T p.T346M Substitution - Missense 17:5138232-5138232 + TCGA-A6-5667-01 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + UD-SCC-2 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + ORL-48 COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + 2461403 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + TCGA-D1-A17K-01 COSM347884 c.505C>T p.L169L Substitution - coding silent 17:5135244-5135244 + PT35 COSM5913971 c.2129C>T p.P710L Substitution - Missense 17:5145541-5145541 + CAL33 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + PTC-28C COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + 93VU147T COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + ORL-48 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + TCGA-FS-A4F0-06 COSM3519592 c.1687G>A p.G563R Substitution - Missense 17:5142116-5142116 + CAL27 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + SCC-9 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + U373 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + CPCG0369-F1 COSM4966944 c.1119G>A p.P373P Substitution - coding silent 17:5139295-5139295 + PTC-6C COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + SCC-25 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + NOKSI COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + WSU-HN13 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + YUTUR COSM5386792 c.1235C>T p.S412F Substitution - Missense 17:5139411-5139411 + PT16_1 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + TCGA-AO-A129-01 COSM436929 c.230G>T p.W77L Substitution - Missense 17:5132944-5132944 + UPCI:SCC090 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + SCC-25 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + TCGA-BR-8078-01 COSM4067867 c.231G>C p.W77C Substitution - Missense 17:5132945-5132945 + UM-SCC-17B COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + UM-SCC-17B COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + WSU-HN8 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + KM12 COSM1684476 c.276delA p.K92fs*3 Deletion - Frameshift 17:5132990-5132990 + CAL33 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + WSU-HN8 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + PTC-77C COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + TCGA-G4-6302-01 COSM106706 c.444G>A p.V148V Substitution - coding silent 17:5133946-5133946 + SCC-25 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + sysucc-1517T COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + UD-SCC-2 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + BD121T COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + 304_T COSM3958552 c.1012G>T p.V338L Substitution - Missense 17:5138207-5138207 + 2461404 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + LN18 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + HCC68T COSM1610494 c.385-6C>T p.? Unknown 17:5133881-5133881 + PTC-1C COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + sysucc-707T COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + PDA_109 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + OSCC-GB_00740111 COSM4890978 c.2347G>T p.E783* Substitution - Nonsense 17:5148583-5148583 + RK063_C01 COSM1630296 c.1700A>T p.Y567F Substitution - Missense 17:5142129-5142129 + TCGA-22-5471-01 COSM706842 c.162G>A p.T54T Substitution - coding silent 17:5132402-5132402 + sysucc-809T COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + TCGA-AA-3821-01 COSM5111503 c.1428C>A p.S476R Substitution - Missense 17:5139604-5139604 + WSU-HN13 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + TCGA-D9-A6EC-06 COSM4401404 c.955C>T p.L319L Substitution - coding silent 17:5138150-5138150 + K198 COSM249278 c.115G>A p.V39I Substitution - Missense 17:5130644-5130644 + PT29 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + CAL27 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + TCGA-D1-A16X-01 COSM981441 c.1041G>T p.K347N Substitution - Missense 17:5138236-5138236 + BICR_22 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + TCGA-BF-A3DN-01 COSM4899064 c.1003G>A p.D335N Substitution - Missense 17:5138198-5138198 + sysucc-918T COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + UM-SCC-17B COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + OSCC-GB_01180111 COSM219211 c.1424G>A p.R475Q Substitution - Missense 17:5139600-5139600 + sysucc-1517T COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + Detroit_562 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + WSU-HN6 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + CSCC-41-T COSM3193539 c.192G>A p.A64A Substitution - coding silent 17:5132432-5132432 + UM-SCC-47 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + ORL-48 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + BICR_22 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + T15 COSM4415494 c.484T>C p.Y162H Substitution - Missense 17:5133986-5133986 + TCGA-AX-A0J0-01 COSM981435 c.218G>A p.R73Q Substitution - Missense 17:5132932-5132932 + UM-SCC-17B COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + SCC-15 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + 2461402 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + SB_06 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + YUZINO COSM1709640 c.956T>C p.L319P Substitution - Missense 17:5138151-5138151 + YUNEKI COSM3193595 c.1011C>T p.T337T Substitution - coding silent 17:5138206-5138206 + NOKSI COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + WSU-HN6 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + PT41 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + Detroit_562 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + TCGA-GN-A263-01 COSM3519598 c.1945G>A p.E649K Substitution - Missense 17:5144816-5144816 + CAL33 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + UPCI:SCC090 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + HCC68T COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + U343 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + Pat_60_B COSM5852999 c.859G>A p.V287M Substitution - Missense 17:5137684-5137684 + WSU-HN6 COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + sysucc-707T COSM5460065 c.865T>C p.L289L Substitution - coding silent 17:5137690-5137690 + CSCC-31-T COSM4461573 c.1211C>T p.S404F Substitution - Missense 17:5139387-5139387 + SCC-9 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + WSU-HN13 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + UD-SCC-2 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + CN-AML-NR-08-Dx COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + UPCI:SCC090 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + Detroit_562 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + TCGA-18-3421-01 COSM706844 c.97G>T p.D33Y Substitution - Missense 17:5130626-5130626 + 2461402 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + TCGA-D3-A3MU-06 COSM3519570 c.588C>T p.F196F Substitution - coding silent 17:5135852-5135852 + 587228 COSM561724 c.1012G>A p.V338M Substitution - Missense 17:5138207-5138207 + sysucc-1507T COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + ORL-48 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + CAL27 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + SNUH_G73_S1 COSM4000202 c.384+4T>C p.? Unknown 17:5133554-5133554 + SCC-25 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + CAL27 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + NPC14F COSM4995760 c.1634C>A p.S545* Substitution - Nonsense 17:5142063-5142063 + Detroit_562 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + ORL-48 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + CSCC-1-T COSM4525279 c.131G>T p.S44I Substitution - Missense 17:5130660-5130660 + HCC123T COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + UPCI:SCC090 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + WSU-HN6 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + UM-SCC-17B COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + 169 COSM3730014 c.1072delC p.P359fs*105 Deletion - Frameshift 17:5138267-5138267 + TCGA-BR-6452-01 COSM4067873 c.928C>T p.R310C Substitution - Missense 17:5138123-5138123 + LUAD-VUMN6 COSM347884 c.505C>T p.L169L Substitution - coding silent 17:5135244-5135244 + HCC123T COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + SCC-9 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + UM-SCC-47 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + Single_Sample COSM3773818 c.300A>C p.G100G Substitution - coding silent 17:5133466-5133466 + U373 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + T3062 COSM4739936 c.1921C>T p.R641* Substitution - Nonsense 17:5144792-5144792 + LN229 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + HCT-15 COSM1679418 c.1434G>A p.W478* Substitution - Nonsense 17:5139610-5139610 + CSCC-27-T COSM4535703 c.2220G>A p.M740I Substitution - Missense 17:5146075-5146075 + SCC-15 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + UM-SCC-4 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + 2521252 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + TCGA-D5-6540-01 COSM981437 c.1002C>T p.N334N Substitution - coding silent 17:5138197-5138197 + UM-SCC-4 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + UD-SCC-2 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + LN18 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + WSU-HN13 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + UM-SCC-47 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + CAL27 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + Detroit_562 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + UD-SCC-2 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + UM-SCC-47 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + TCGA-BS-A0UF-01 COSM981445 c.1561G>T p.D521Y Substitution - Missense 17:5141487-5141487 + LN229 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + 93VU147T COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + PTC-88C COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + SCC-15 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + 2521243 COSM4268927 c.875G>A p.G292E Substitution - Missense 17:5137700-5137700 + SCC-9 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + TCGA-FS-A1ZP-06 COSM3519589 c.1589G>A p.G530E Substitution - Missense 17:5142018-5142018 + TCGA-A6-5667-01 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + TCGA-GN-A266-06 COSM3193612 c.1345C>T p.L449L Substitution - coding silent 17:5139521-5139521 + HCC115T COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + NOKSI COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + sysucc-1507T COSM4598024 c.240G>T p.M80I Substitution - Missense 17:5132954-5132954 + BD87T COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + Detroit_562 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + NOKSI COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + CN-AML-CR-57-Dx COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + ORL-48 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + WSU-HN13 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + BICR_22 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + TCGA-BR-6452-01 COSM4067869 c.603T>C p.P201P Substitution - coding silent 17:5135867-5135867 + WSU-HN8 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + CHC1534T COSM4955088 c.1591G>T p.A531S Substitution - Missense 17:5142020-5142020 + WSU-HN6 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + BD87T COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + GC_350T-GC_350N COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + TCGA-A6-6781-01 COSM5094359 c.825+1G>A p.? Unknown 17:5137187-5137187 + CAL33 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + LPJ119 COSM1316804 c.200T>G p.I67S Substitution - Missense 17:5132914-5132914 + ccRCC-105 COSM1664927 c.511T>A p.Y171N Substitution - Missense 17:5135250-5135250 + PTC-77C COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + SCC-15 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + UPCI:SCC090 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + CSCC-7-T COSM4488882 c.339C>T p.L113L Substitution - coding silent 17:5133505-5133505 + NOKSI COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + T98G COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + UM-SCC-4 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + 2461404 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + TCGA-BS-A0UF-01 COSM981451 c.2021G>T p.R674I Substitution - Missense 17:5145433-5145433 + 2492725 COSM5725081 c.1151G>A p.G384E Substitution - Missense 17:5139327-5139327 + 2492724 COSM5725081 c.1151G>A p.G384E Substitution - Missense 17:5139327-5139327 + TCGA-BS-A0UV-01 COSM981437 c.1002C>T p.N334N Substitution - coding silent 17:5138197-5138197 + 139 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + U373 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + SCC-15 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + TCGA-G4-6628-01 COSM249278 c.115G>A p.V39I Substitution - Missense 17:5130644-5130644 + tumor_4188879 COSM5949207 c.960G>A p.W320* Substitution - Nonsense 17:5138155-5138155 + TCGA-AG-A002-01 COSM264625 c.131G>A p.S44N Substitution - Missense 17:5130660-5130660 + BICR_22 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + PTC-77C COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + BICR_22 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + CHC1148T COSM4954736 c.1152G>T p.G384G Substitution - coding silent 17:5139328-5139328 + BICR_22 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + T98G COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + LUAD-RT-S01813 COSM383176 c.656C>A p.S219Y Substitution - Missense 17:5135920-5135920 + UM-SCC-17B COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + UPCI:SCC090 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + UM-SCC-4 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + UM-SCC-4 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + PTC-88C COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + PD3904a COSM219211 c.1424G>A p.R475Q Substitution - Missense 17:5139600-5139600 + UPCI:SCC090 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + WSU-HN6 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + TCGA-FS-A1ZK-06 COSM3519564 c.286C>T p.R96* Substitution - Nonsense 17:5133452-5133452 + TCGA-DK-A3IT-01 COSM1303063 c.1017C>T p.L339L Substitution - coding silent 17:5138212-5138212 + T98G COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + U87 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + TCGA-DD-A4ND-01 COSM219211 c.1424G>A p.R475Q Substitution - Missense 17:5139600-5139600 + sysucc-1507T COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + 9T COSM110194 c.49G>A p.D17N Substitution - Missense 17:5130416-5130416 + TCGA-AA-3713-01 COSM106706 c.444G>A p.V148V Substitution - coding silent 17:5133946-5133946 + UD-SCC-2 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + CAL33 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + HCC68 COSM1610494 c.385-6C>T p.? Unknown 17:5133881-5133881 + SCC-15 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + SB_06 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + WSU-HN13 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + NOKSI COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + UM-SCC-11B COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + WSU-HN13 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + SCC-9 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + KPOPBR-29-T COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + WSU-HN6 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + SCC-25 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + CRC-03T COSM5451449 c.1118C>T p.P373L Substitution - Missense 17:5139294-5139294 + Single_Sample COSM4606504 c.499A>C p.R167R Substitution - coding silent 17:5135238-5135238 + WSU-HN8 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + TARGET-30-PATFCY COSM1288868 c.2308T>G p.S770A Substitution - Missense 17:5146163-5146163 + CSCC-41-T COSM4533965 c.2034G>A p.V678V Substitution - coding silent 17:5145446-5145446 + TCGA-43-5668-01 COSM706836 c.1013T>A p.V338E Substitution - Missense 17:5138208-5138208 + U343 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + TCGA-A6-3809-01 COSM3193616 c.1404delC p.H470fs*36 Deletion - Frameshift 17:5139580-5139580 + WSU-HN13 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + TCGA-D5-6537-01 COSM106706 c.444G>A p.V148V Substitution - coding silent 17:5133946-5133946 + UM-SCC-47 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + Detroit_562 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + 93VU147T COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + CAL33 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + TCGA-B0-4693-01 COSM1270116 c.2029A>G p.I677V Substitution - Missense 17:5145441-5145441 + HCC123T COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + T98G COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + PDA_061 COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + ESCC_78 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + TCGA-EE-A2MH-06 COSM3519583 c.1365C>T p.P455P Substitution - coding silent 17:5139541-5139541 + TCGA-F4-6570-01 COSM1384526 c.556T>C p.C186R Substitution - Missense 17:5135820-5135820 + KPOPBR-13-T COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + TCGA-AK-3445-01 COSM3362229 c.140G>A p.R47H Substitution - Missense 17:5130669-5130669 + SCC-9 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + SCC-25 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + UPCI:SCC090 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + PT19_1 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + CSCC-49-T COSM4505515 c.694C>T p.Q232* Substitution - Nonsense 17:5136669-5136669 + 2250172 COSM5030149 c.848G>A p.R283H Substitution - Missense 17:5137673-5137673 + GC8_T COSM148163 c.981C>A p.F327L Substitution - Missense 17:5138176-5138176 + 93VU147T COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + SCC-9 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + WSU-HN13 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + WSU-HN8 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + 104069 COSM95499 c.2033T>C p.V678A Substitution - Missense 17:5145445-5145445 + ORL-48 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + NOKSI COSM4593884 c.325G>T p.V109L Substitution - Missense 17:5133491-5133491 + U87 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + TCGA-66-2792-01 COSM706840 c.662C>T p.P221L Substitution - Missense 17:5135926-5135926 + CHEWS024 COSM4579881 c.80G>A p.R27Q Substitution - Missense 17:5130609-5130609 + 2521243 COSM5886990 c.1499-8C>T p.? Unknown 17:5141417-5141417 + B90 COSM1750168 c.1291G>T p.G431C Substitution - Missense 17:5139467-5139467 + SCC-9 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + 93VU147T COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + PT44 COSM5926993 c.433G>A p.D145N Substitution - Missense 17:5133935-5133935 + RC-18 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + SCC-15 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + NOKSI COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + SCC-25 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + UM-SCC-47 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + UM-SCC-17B COSM4593884 c.325G>T p.V109L Substitution - Missense 17:5133491-5133491 + TCGA-ER-A3PL-06 COSM3519568 c.578C>T p.T193I Substitution - Missense 17:5135842-5135842 + U373 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + T98G COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + U87 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + PTC-1C COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + PT36 COSM5916639 c.94G>A p.E32K Substitution - Missense 17:5130623-5130623 + TCGA-18-3415-01 COSM706834 c.2062C>G p.Q688E Substitution - Missense 17:5145474-5145474 + TCGA-A6-5667-01 COSM106706 c.444G>A p.V148V Substitution - coding silent 17:5133946-5133946 + TCGA-BS-A0UF-01 COSM981449 c.1876G>T p.E626* Substitution - Nonsense 17:5144747-5144747 + PT38 COSM3403010 c.1192C>T p.R398W Substitution - Missense 17:5139368-5139368 + HSJD_DIPG004 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + TCGA-D8-A1J9-01 COSM1479748 c.2062C>T p.Q688* Substitution - Nonsense 17:5145474-5145474 + TCGA-EE-A3JD-06 COSM4396020 c.1731G>A p.M577I Substitution - Missense 17:5142415-5142415 + TCGA-BP-4338-01 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + RMS2029 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + TCGA-J9-A52C-01 COSM561724 c.1012G>A p.V338M Substitution - Missense 17:5138207-5138207 + SCC-9 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + PT29 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + UM-SCC-17B COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + T2420 COSM264627 c.1038G>A p.T346T Substitution - coding silent 17:5138233-5138233 + CAL27 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + HCC139T COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + CAL27 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + TCGA-AP-A0LM-01 COSM981447 c.1827A>G p.I609M Substitution - Missense 17:5144698-5144698 + PT19_1 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + TCGA-AG-A002-01 COSM264627 c.1038G>A p.T346T Substitution - coding silent 17:5138233-5138233 + CAL27 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + ORL-48 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + PT08_1 COSM5893972 c.2167G>A p.V723M Substitution - Missense 17:5145579-5145579 + UD-SCC-2 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + PTC-77C COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + Detroit_562 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + STC252 COSM5055610 c.2257G>A p.D753N Substitution - Missense 17:5146112-5146112 + ESCC_110 COSM5639204 c.1215G>A p.P405P Substitution - coding silent 17:5139391-5139391 + YUROL COSM5386795 c.2266G>A p.G756R Substitution - Missense 17:5146121-5146121 + Single_Sample COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + TCGA-AZ-6599-01 COSM1384524 c.304C>T p.P102S Substitution - Missense 17:5133470-5133470 + sysucc-311T COSM5464109 c.210G>A p.E70E Substitution - coding silent 17:5132924-5132924 + SCC-9 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + BICR_22 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + NOKSI COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + LN18 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + SCC-15 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + UM-SCC-4 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + NOKSI COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + UM-SCC-4 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + Pat_32_B COSM5853002 c.1129G>T p.G377C Substitution - Missense 17:5139305-5139305 + Case3 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + CN-AML-CR-57-Dx COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + LPJ023 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + TCGA-FS-A1ZC-06 COSM3519576 c.739C>T p.P247S Substitution - Missense 17:5136714-5136714 + TCGA-ER-A3PL-06 COSM3519566 c.502G>A p.E168K Substitution - Missense 17:5135241-5135241 + TCGA-41-2573-01 COSM3403013 c.1399T>A p.W467R Substitution - Missense 17:5139575-5139575 + LUAD-S01356 COSM398046 c.286C>A p.R96R Substitution - coding silent 17:5133452-5133452 + TCGA-CZ-4862-01 COSM3773818 c.300A>C p.G100G Substitution - coding silent 17:5133466-5133466 + UM-SCC-11B COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + cSCCP7 COSM140113 c.277-2A>G p.? Unknown 17:5133441-5133441 + 1_PRE-TREATMENT COSM981449 c.1876G>T p.E626* Substitution - Nonsense 17:5144747-5144747 + RC-1 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + UM-SCC-11B COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + TCGA-G4-6317-01 COSM106706 c.444G>A p.V148V Substitution - coding silent 17:5133946-5133946 + U343 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + WSU-HN6 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + PDA_081 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + CSCC-31-T COSM4549994 c.488G>A p.G163E Substitution - Missense 17:5133990-5133990 + sysucc-1150T COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + PDA_081 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + UD-SCC-2 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + CN-AML-08-T COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + ORL-48 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + SCC-25 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + CN-AML-08-T COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + RC-11 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + PTC-54C COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + BICR_22 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + UM-SCC-17B COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + TCGA-EE-A183-06 COSM3519574 c.691G>A p.V231I Substitution - Missense 17:5136666-5136666 + TCGA-AD-6889-01 COSM5129494 c.2320-10G>T p.? Unknown 17:5148546-5148546 + UD-SCC-2 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + WSU-HN13 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + SCC-15 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + SNUH_G16_S1 COSM3680512 c.2175G>A p.K725K Substitution - coding silent 17:5146030-5146030 + UM-SCC-11B COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + PD9702a COSM5772680 c.276+5T>A p.? Unknown 17:5132995-5132995 + 93VU147T COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + PS-352-5D COSM4424073 c.1731G>C p.M577I Substitution - Missense 17:5142415-5142415 + PT42 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + UM-SCC-11B COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + ESO-143 COSM1270116 c.2029A>G p.I677V Substitution - Missense 17:5145441-5145441 + sysucc-1507T COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + ORL-48 COSM4593884 c.325G>T p.V109L Substitution - Missense 17:5133491-5133491 + SCC-9 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + PAPLDL COSM1726537 c.44G>A p.R15Q Substitution - Missense 17:5130411-5130411 + T3080 COSM4739939 c.2238delT p.L747fs*1 Deletion - Frameshift 17:5146093-5146093 + NOKSI COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + TCGA-DK-A2I1-01 COSM1303061 c.910C>G p.L304V Substitution - Missense 17:5137735-5137735 + UM-SCC-4 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + WSU-HN8 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + TCGA-BR-4184-01 COSM4067875 c.1033T>G p.S345A Substitution - Missense 17:5138228-5138228 + CAL33 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + WSU-HN13 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + CSCC-45-T COSM3519564 c.286C>T p.R96* Substitution - Nonsense 17:5133452-5133452 + 2461403 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + SNUH_G10_S1 COSM4000202 c.384+4T>C p.? Unknown 17:5133554-5133554 + S00022 COSM316422 c.823G>T p.G275W Substitution - Missense 17:5137184-5137184 + UM-SCC-17B COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + UM-SCC-11B COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + TCGA-CH-5769-01 COSM1130233 c.79C>T p.R27* Substitution - Nonsense 17:5130608-5130608 + LN18 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + TCGA-76-4935-01 COSM3403007 c.458G>A p.R153Q Substitution - Missense 17:5133960-5133960 + UM-SCC-11B COSM4598024 c.240G>T p.M80I Substitution - Missense 17:5132954-5132954 + TCGA-A6-5667-01 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + CAL27 COSM4593884 c.325G>T p.V109L Substitution - Missense 17:5133491-5133491 + WSU-HN6 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + SCC-9 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + CAL33 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + CSCC-27-T COSM3889967 c.222G>A p.T74T Substitution - coding silent 17:5132936-5132936 + TCGA-06-0646-01 COSM3403010 c.1192C>T p.R398W Substitution - Missense 17:5139368-5139368 + WSU-HN6 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + CAL33 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + UD-SCC-2 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + Detroit_562 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + TCGA-EB-A24D-01 COSM3519595 c.1689G>A p.G563G Substitution - coding silent 17:5142118-5142118 + TCGA-D5-6928-01 COSM106706 c.444G>A p.V148V Substitution - coding silent 17:5133946-5133946 + 2461404 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + PTC-1C COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + TCGA-66-2782-01 COSM706838 c.728C>G p.P243R Substitution - Missense 17:5136703-5136703 + UM-SCC-4 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + BICR_22 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + PT23_1 COSM5903171 c.481C>T p.R161* Substitution - Nonsense 17:5133983-5133983 + SCC-9 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + SNUH_G73_S1 COSM4415494 c.484T>C p.Y162H Substitution - Missense 17:5133986-5133986 + TCGA-FW-A3R5-06 COSM3889970 c.1228C>T p.R410C Substitution - Missense 17:5139404-5139404 + UM-SCC-4 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + 2461402 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + Pat_66_A COSM4899064 c.1003G>A p.D335N Substitution - Missense 17:5138198-5138198 + BZ24 COSM5758675 c.868G>C p.V290L Substitution - Missense 17:5137693-5137693 + CSCC-44-T COSM4473759 c.1871C>T p.S624F Substitution - Missense 17:5144742-5144742 + C0031T COSM4151674 c.2019T>C p.N673N Substitution - coding silent 17:5145431-5145431 + UD-SCC-2 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + LPJ023 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + LN18 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + PTC-77C COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + SCC-15 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + S02248 COSM5679534 c.1620A>T p.T540T Substitution - coding silent 17:5142049-5142049 + 2292379 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + ORL-48 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + sysucc-1213T COSM4598024 c.240G>T p.M80I Substitution - Missense 17:5132954-5132954 + CHEWS004 COSM4579883 c.778G>A p.G260R Substitution - Missense 17:5137139-5137139 + UPCI:SCC090 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + PTC-6C COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + HCC080T COSM5810497 c.1272G>A p.T424T Substitution - coding silent 17:5139448-5139448 + 033-0070-01TD COSM5416265 c.1351T>G p.W451G Substitution - Missense 17:5139527-5139527 + CHC1534T COSM4955088 c.1591G>T p.A531S Substitution - Missense 17:5142020-5142020 + T3094 COSM4739933 c.771T>C p.G257G Substitution - coding silent 17:5137132-5137132 + sysucc-918T COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + U87 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + U373 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + UPCI:SCC090 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + SJHGG003_A COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + BICR_22 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + U343 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + TCGA-BS-A0UJ-01 COSM981455 c.2290C>T p.L764L Substitution - coding silent 17:5146145-5146145 + TCGA-DA-A1I5-06 COSM3519601 c.1984G>A p.A662T Substitution - Missense 17:5144855-5144855 + TCGA-FW-A3R5-06 COSM3889967 c.222G>A p.T74T Substitution - coding silent 17:5132936-5132936 + UM-SCC-17B COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + TCGA-AP-A056-01 COSM981453 c.2245A>C p.K749Q Substitution - Missense 17:5146100-5146100 + UPCI:SCC090 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + TCGA-EE-A29A-06 COSM3519607 c.2286C>T p.I762I Substitution - coding silent 17:5146141-5146141 + TCGA-HU-8602-01 COSM25356 c.1366C>T p.R456W Substitution - Missense 17:5139542-5139542 + BD180T COSM5495184 c.115G>T p.V39F Substitution - Missense 17:5130644-5130644 + CN-AML-CR-31-Dx COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + LN229 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + 2497767 COSM3193527 c.59T>C p.M20T Substitution - Missense 17:5130426-5130426 + TCGA-FW-A3R5-06 COSM3889973 c.1405C>T p.P469S Substitution - Missense 17:5139581-5139581 + TCGA-CZ-4854-01 COSM3773822 c.525C>A p.A175A Substitution - coding silent 17:5135264-5135264 + Single_Sample COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + NOKSI COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + UM-SCC-47 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + PT23_1 COSM5903169 c.73G>A p.G25R Substitution - Missense 17:5130602-5130602 + PT52 COSM5893972 c.2167G>A p.V723M Substitution - Missense 17:5145579-5145579 + TCGA-BR-4370-01 COSM4067880 c.1098C>A p.S366S Substitution - coding silent 17:5139274-5139274 + PT33 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + UM-SCC-47 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + U343 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + WSU-HN6 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + PT08_2 COSM5893972 c.2167G>A p.V723M Substitution - Missense 17:5145579-5145579 + UM-SCC-11B COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + UM-SCC-47 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + LUAD-CHTN-MAD06-00668 COSM359051 c.696G>A p.Q232Q Substitution - coding silent 17:5136671-5136671 + TCGA-QG-A5Z2-01 COSM5187256 c.449C>T p.T150M Substitution - Missense 17:5133951-5133951 + U87 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + TCGA-AA-A00N-01 COSM278051 c.2099G>A p.R700Q Substitution - Missense 17:5145511-5145511 + BICR_22 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + TCGA-AX-A0J1-01 COSM981443 c.1194G>A p.R398R Substitution - coding silent 17:5139370-5139370 + WSU-HN8 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + RK063_C COSM1630296 c.1700A>T p.Y567F Substitution - Missense 17:5142129-5142129 + WSU-HN13 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + CN-AML-CR-62-Dx COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + TCGA-BR-8589-01 COSM4067885 c.1556A>C p.K519T Substitution - Missense 17:5141482-5141482 + PTC-46C COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + PD11372a COSM5767200 c.22G>C p.D8H Substitution - Missense 17:5130389-5130389 + 2461403 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + WSU-HN8 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + ORL-48 COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + PT13 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + PTC-46C COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + CAL27 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + S02292 COSM5687553 c.324G>T p.P108P Substitution - coding silent 17:5133490-5133490 + PT42 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + CAL33 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + UM-SCC-4 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + UM-SCC-47 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + CSCC-31-T COSM4535497 c.2199G>A p.R733R Substitution - coding silent 17:5146054-5146054 + LN18 COSM1610490 c.196A>C p.K66Q Substitution - Missense 17:5132910-5132910 + 2461403 COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + CN-AML-NR-08-Dx COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + TCGA-EE-A2MR-06 COSM3519572 c.622G>A p.A208T Substitution - Missense 17:5135886-5135886 + UM-SCC-47 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + YUPAER COSM5386798 c.2305G>A p.D769N Substitution - Missense 17:5146160-5146160 + PTC-7C COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + WSU-HN6 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + WSU-HN8 COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + TCGA-JW-A852-01 COSM4823783 c.394G>T p.E132* Substitution - Nonsense 17:5133896-5133896 + 93VU147T COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + TCGA-EI-7002-01 COSM106706 c.444G>A p.V148V Substitution - coding silent 17:5133946-5133946 + UM-SCC-17B COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + 93VU147T COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + PT22_1 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + WSU-HN6 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + TCGA-BR-8284-01 COSM4067888 c.2150T>C p.M717T Substitution - Missense 17:5145562-5145562 + UM-SCC-4 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + PTC-7C COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + OLID10 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + NOKSI COSM4591293 c.287G>T p.R96L Substitution - Missense 17:5133453-5133453 + ESO-141 COSM1270114 c.2067C>A p.V689V Substitution - coding silent 17:5145479-5145479 + 93VU147T COSM4591352 c.377G>A p.R126K Substitution - Missense 17:5133543-5133543 + UD-SCC-2 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + PD3904a COSM219211 c.1424G>A p.R475Q Substitution - Missense 17:5139600-5139600 + CAL27 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + ORL-48 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + Sample_1 COSM4000202 c.384+4T>C p.? Unknown 17:5133554-5133554 + CAL27 COSM1315967 c.202C>T p.R68W Substitution - Missense 17:5132916-5132916 + TCGA-CH-5739-01 COSM3672511 c.824G>T p.G275V Substitution - Missense 17:5137185-5137185 + TCGA-BS-A0UF-01 COSM981439 c.1024C>A p.L342I Substitution - Missense 17:5138219-5138219 + C089 COSM5543590 c.674G>A p.S225N Substitution - Missense 17:5136649-5136649 + BICR_22 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + WSU-HN8 COSM4590857 c.382C>A p.Q128K Substitution - Missense 17:5133548-5133548 + WSU-HN8 COSM4591809 c.362T>C p.L121S Substitution - Missense 17:5133528-5133528 + CAL33 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + CAL27 COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + TCGA-28-5207-01 COSM3403005 c.401G>A p.G134D Substitution - Missense 17:5133903-5133903 + KPOPBR-60-T COSM4130414 c.398G>A p.R133K Substitution - Missense 17:5133900-5133900 + TCGA-BR-4292-01 COSM4067871 c.922C>T p.Q308* Substitution - Nonsense 17:5137747-5137747 + UPCI:SCC090 COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + CRC-01T COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + SCC-25 COSM4591350 c.373G>A p.G125R Substitution - Missense 17:5133539-5133539 + YUPLA COSM3193535 c.185G>A p.R62Q Substitution - Missense 17:5132425-5132425 + 93VU147T COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + SCC-15 COSM4130412 c.205C>T p.R69W Substitution - Missense 17:5132919-5132919 + TCGA-FS-A1ZW-06 COSM3519604 c.1998G>A p.W666* Substitution - Nonsense 17:5145410-5145410 + CAL27 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + sysucc-707T COSM256119 c.215C>G p.T72R Substitution - Missense 17:5132929-5132929 + WSU-HN8 COSM3773820 c.323C>T p.P108L Substitution - Missense 17:5133489-5133489 + TCGA-EE-A2GR-06 COSM3519586 c.1437C>T p.V479V Substitution - coding silent 17:5139613-5139613 + CSCC-4-T COSM106706 c.444G>A p.V148V Substitution - coding silent 17:5133946-5133946 + sysucc-1150T COSM132781 c.265C>A p.H89N Substitution - Missense 17:5132979-5132979 + CN-AML-CR-63-Dx COSM1610492 c.272G>C p.S91T Substitution - Missense 17:5132986-5132986 + PT33 COSM3403007 c.458G>A p.R153Q Substitution - Missense 17:5133960-5133960 + WSU-HN8 COSM1315965 c.201T>G p.I67M Substitution - Missense 17:5132915-5132915 + BD135T COSM5516755 c.543G>A p.P181P Substitution - coding silent 17:5135282-5135282 + CHC1148T COSM4954736 c.1152G>T p.G384G Substitution - coding silent 17:5139328-5139328 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.448851 17p13 604334

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K255Q c.763A>C 17 5040419 LUAD A C Missense p.Q934P c.2801A>C 17 5058874 CM A G Missense p.I677V c.2029A>G 17 5048736 ESCA A G Missense p.I677V c.2029A>G 17 5048736 RCCC A G Missense p.N6S c.17A>G 17 5033679 CM A G Missense p.T74A c.220A>G 17 5036229 HNSC A G Missense p.Y971C c.2912A>G 17 5064906 SCLC A G Synonymous p.S1219S c.3657A>G 17 5073913 STAD A T IntronicSNV . c.156-97A>T 17 5035594 OV A T Missense p.T1258S c.3772A>T 17 5074028 LGG A T Missense p.Y567F c.1700A>T 17 5045424 HC A T Nonsense p.K1158* c.3472A>T 17 5072305 UCEC C A IntronicSNV . c.760-151C>A 17 5040265 NSCLC C A Missense p.L830I c.2488C>A 17 5051907 LUAD C A Missense p.P932Q c.2795C>A 17 5058868 CM C A Missense p.Q1010K c.3028C>A 17 5066291 LUAD C A Missense p.S1298R c.3894C>A 17 5074150 LUSC C A Synonymous p.A175A c.525C>A 17 5038559 RCCC C A Synonymous p.A991A c.2973C>A 17 5066236 RCCC C A Synonymous p.P38P c.114C>A 17 5033938 STAD C A Synonymous p.R912R c.2734C>A 17 5058807 STAD C A Synonymous p.S366S c.1098C>A 17 5042569 STAD C A Synonymous p.V689V c.2067C>A 17 5048774 ESCA CC TT Missense p.H682Y c.2043_2044delinsTT 17 5048750 CM C - Frameshift p.P710Hfs*10 c.2129delC 17 5048835 LUAD C G Missense p.L304V c.910C>G 17 5041030 BLCA C G Missense p.P243R c.728C>G 17 5039998 LUSC C G Missense p.P807A c.2419C>G 17 5050477 UCEC C G Missense p.Q688E c.2062C>G 17 5048769 LUSC C T Missense p.P124L c.371C>T 17 5036832 CM C T Missense p.P221L c.662C>T 17 5039221 LUSC C T Missense p.P247S c.739C>T 17 5040009 CM C T Missense p.P796S c.2386C>T 17 5050444 CM C T Missense p.R398W c.1192C>T 17 5042663 GBM C T Missense p.R895C c.2683C>T 17 5058756 CM C T Missense p.S675L c.2024C>T 17 5048731 HNSC C T Nonsense p.Q308* c.922C>T 17 5041042 STAD C T Nonsense p.Q688* c.2062C>T 17 5048769 BRCA C T Nonsense p.Q783* c.2347C>T 17 5050405 GBM C T Nonsense p.R1113* c.3337C>T 17 5072170 LGG C T Nonsense p.R96* c.286C>T 17 5036747 CM C T Synonymous p.D355D c.1065C>T 17 5041555 NB C T Synonymous p.F196F c.588C>T 17 5039147 CM C T Synonymous p.F888F c.2664C>T 17 5058737 CM C T Synonymous p.G1282G c.3846C>T 17 5074102 UCEC C T Synonymous p.I129I c.387C>T 17 5037184 CM C T Synonymous p.I762I c.2286C>T 17 5049436 CM C T Synonymous p.L169L c.505C>T 17 5038539 UCEC C T Synonymous p.L339L c.1017C>T 17 5041507 BLCA C T Synonymous p.P455P c.1365C>T 17 5042836 CM C T Synonymous p.S787S c.2361C>T 17 5050419 STAD C T Synonymous p.V479V c.1437C>T 17 5042908 CM CTT - InFrameDeletion p.S1178delS c.3528_3530delTTC 17 5073780 UCEC G A IntronicSNV . c.494+11G>A 17 5037302 ESCA G A Missense p.A662T c.1984G>A 17 5048150 CM G A Missense p.D1354N c.4060G>A 17 5076112 CM G A Missense p.D335N c.1003G>A 17 5041493 CM G A Missense p.D335N c.1003G>A 17 5041493 HNSC G A Missense p.D460N c.1378G>A 17 5042849 CM G A Missense p.D944N c.2830G>A 17 5064824 AML G A Missense p.D980N c.2938G>A 17 5066201 CM G A Missense p.E1029K c.3085G>A 17 5071275 CM G A Missense p.E1102K c.3304G>A 17 5072137 CM G A Missense p.E1129K c.3385G>A 17 5072218 BRCA G A Missense p.E1304K c.3910G>A 17 5074166 CM G A Missense p.E1400K c.4198G>A 17 5076250 CM G A Missense p.E649K c.1945G>A 17 5048111 CM G A Missense p.G1182E c.3545G>A 17 5073801 CM G A Missense p.G1232E c.3695G>A 17 5073951 CM G A Missense p.G134D c.401G>A 17 5037198 GBM G A Missense p.G1370E c.4109G>A 17 5076161 CM G A Missense p.G40E c.119G>A 17 5033943 CM G A Missense p.G530E c.1589G>A 17 5045313 CM G A Missense p.G579R c.1735G>A 17 5045714 LUAD G A Missense p.G839R c.2515G>A 17 5051934 CM G A Missense p.G900R c.2698G>A 17 5058771 CM G A Missense p.G962E c.2885G>A 17 5064879 CM G A Missense p.M333I c.999G>A 17 5041489 CM G A Missense p.M577I c.1731G>A 17 5045710 CM G A Missense p.R1245Q c.3734G>A 17 5073990 LUSC G A Missense p.R153Q c.458G>A 17 5037255 GBM G A Missense p.R398Q c.1193G>A 17 5042664 HNSC G A Missense p.R410H c.1229G>A 17 5042700 LUAD G A Missense p.R47H c.140G>A 17 5033964 RCCC G A Missense p.R686K c.2057G>A 17 5048764 HNSC G A Missense p.R879Q c.2636G>A 17 5052055 CM G A Missense p.S1147N c.3440G>A 17 5072273 CM G A Missense p.V231I c.691G>A 17 5039961 CM G A Missense p.V338M c.1012G>A 17 5041502 LUAD G A Missense p.V797I c.2389G>A 17 5050447 HNSC G A Nonsense p.W475* c.1424G>A 17 5042895 CM G A Nonsense p.W666* c.1998G>A 17 5048705 CM G A Nonsense p.W926* c.2778G>A 17 5058851 COREAD G A Synonymous p.G275G c.825G>A 17 5040481 CM G A Synonymous p.G563G c.1689G>A 17 5045413 CM G A Synonymous p.S1148S c.3444G>A 17 5072277 UCEC G A Synonymous p.T1391T c.4173G>A 17 5076225 CM G A Synonymous p.T54T c.162G>A 17 5035697 LUSC G A Synonymous p.V148V c.444G>A 17 5037241 OV G A Synonymous p.V723V c.2169G>A 17 5049319 CM G C IntronicSNV . c.1-1665G>C 17 5031998 HC G C Missense p.D778H c.2332G>C 17 5050390 NB G - Frameshift p.A1227Pfs*17 c.3679delG 17 5073935 LUAD - G IntronicInsertion . c.156-69dupG 17 5035618 COREAD G T Missense p.A1265S c.3793G>T 17 5074049 NB G T Missense p.D33Y c.97G>T 17 5033921 LUSC G T Missense p.G275W c.823G>T 17 5040479 SCLC G T Missense p.R376L c.1127G>T 17 5042598 LUAD G T Missense p.W77L c.230G>T 17 5036239 BRCA T A Missense p.V338E c.1013T>A 17 5041503 LUSC T A Missense p.W467R c.1399T>A 17 5042870 GBM T A Nonsense p.Y1366* c.4098T>A 17 5076150 THCA T A Synonymous p.A438A c.1314T>A 17 5042785 LUAD T G Missense p.L1136R c.3407T>G 17 5072240 LUSC T G Missense p.S770A c.2308T>G 17 5049458 NB T G Synonymous p.R410R c.1230T>G 17 5042701 HNSC - T IntronicInsertion . c.1993-9dupT 17 5048686 ESCA