Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 7 44800087 44800087 + Missense_Mutation SNP A A T TCGA-OR-A5JP-01A-11D-A29I-10 TCGA-OR-A5JP-10A-01D-A29L-10 g.chr7:44800087A>T c.1135A>T c.(1135-1137)Acc>Tcc p.T379S ACC 7 44802986 44802986 + Nonsense_Mutation SNP C C T TCGA-OR-A5LO-01A-11D-A29I-10 TCGA-OR-A5LO-10A-01D-A29L-10 g.chr7:44802986C>T c.1834C>T c.(1834-1836)Cga>Tga p.R612* BLCA 7 44795867 44795867 + Missense_Mutation SNP A A G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 g.chr7:44795867A>G c.19A>G c.(19-21)Atg>Gtg p.M7V BLCA 7 44796036 44796036 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 g.chr7:44796036C>T c.63C>T c.(61-63)ttC>ttT p.F21F BLCA 7 44797153 44797153 + Missense_Mutation SNP A A G TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 g.chr7:44797153A>G c.545A>G c.(544-546)tAt>tGt p.Y182C BLCA 7 44799028 44799028 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr7:44799028C>G c.962C>G c.(961-963)tCc>tGc p.S321C BLCA 7 44800100 44800100 + Missense_Mutation SNP G G A TCGA-G2-AA3F-01A-12D-A42E-08 TCGA-G2-AA3F-10A-01D-A42H-08 g.chr7:44800100G>A c.1148G>A c.(1147-1149)aGc>aAc p.S383N BLCA 7 44802511 44802511 + Missense_Mutation SNP G G A TCGA-FD-A43U-01A-11D-A23U-08 TCGA-FD-A43U-10A-01D-A23U-08 g.chr7:44802511G>A c.1628G>A c.(1627-1629)cGc>cAc p.R543H BLCA 7 44802942 44802942 + Missense_Mutation SNP C C A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 g.chr7:44802942C>A c.1790C>A c.(1789-1791)tCc>tAc p.S597Y BLCA 7 44804047 44804047 + Silent SNP C C T TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr7:44804047C>T c.1890C>T c.(1888-1890)ctC>ctT p.L630L BLCA 7 44804556 44804556 + Missense_Mutation SNP G G A TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr7:44804556G>A c.1945G>A c.(1945-1947)Gag>Aag p.E649K BLCA 7 44804952 44804952 + Silent SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr7:44804952C>T c.2016C>T c.(2014-2016)atC>atT p.I672I BLCA 7 44804988 44804988 + Silent SNP C C A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr7:44804988C>A c.2052C>A c.(2050-2052)ccC>ccA p.P684P BLCA 7 44805095 44805095 + Missense_Mutation SNP T T A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr7:44805095T>A c.2159T>A c.(2158-2160)aTc>aAc p.I720N BLCA 7 44806116 44806116 + Missense_Mutation SNP C C T TCGA-FD-A6TF-01A-52D-A32B-08 TCGA-FD-A6TF-10A-21D-A329-08 g.chr7:44806116C>T c.2509C>T c.(2509-2511)Cat>Tat p.H837Y BLCA 7 44807139 44807139 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr7:44807139G>A c.2680G>A c.(2680-2682)Gat>Aat p.D894N BRCA 7 44802875 44802875 + Missense_Mutation SNP G G T TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 g.chr7:44802875G>T c.1723G>T c.(1723-1725)Ggc>Tgc p.G575C BRCA 7 44802918 44802918 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:44802918T>G c.1766T>G c.(1765-1767)gTg>gGg p.V589G BRCA 7 44802938 44802938 + Missense_Mutation SNP G G A TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 g.chr7:44802938G>A c.1786G>A c.(1786-1788)Gtg>Atg p.V596M CESC 7 44796622 44796622 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr7:44796622C>T c.242C>T c.(241-243)tCc>tTc p.S81F CESC 7 44804562 44804562 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 g.chr7:44804562C>T c.1951C>T c.(1951-1953)Ctg>Ttg p.L651L CHOL 7 44804019 44804019 + Splice_Site SNP G G T TCGA-ZD-A8I3-01A-11D-A417-09 TCGA-ZD-A8I3-10A-01D-A41A-09 g.chr7:44804019G>T c.1862G>T c.(1861-1863)tGc>tTc p.C621F CHOL 7 44806150 44806150 + Missense_Mutation SNP T T C TCGA-ZH-A8Y2-01A-11D-A417-09 TCGA-ZH-A8Y2-10A-01D-A41A-09 g.chr7:44806150T>C c.2543T>C c.(2542-2544)tTg>tCg p.L848S COAD 7 44796130 44796130 + Nonsense_Mutation SNP C C T TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr7:44796130C>T c.157C>T c.(157-159)Cag>Tag p.Q53* COAD 7 44796131 44796131 + Missense_Mutation SNP A A G TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr7:44796131A>G c.158A>G c.(157-159)cAg>cGg p.Q53R COAD 7 44796659 44796659 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr7:44796659G>A c.279G>A c.(277-279)gcG>gcA p.A93A COAD 7 44796714 44796714 + Frame_Shift_Del DEL G G - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr7:44796714delG c.334delG c.(334-336)gggfs p.G113fs COAD 7 44797098 44797098 + Missense_Mutation SNP G G T TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr7:44797098G>T c.490G>T c.(490-492)Gcc>Tcc p.A164S COAD 7 44797100 44797100 + Silent SNP C C T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr7:44797100C>T c.492C>T c.(490-492)gcC>gcT p.A164A COAD 7 44800101 44800101 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr7:44800101C>T c.1149C>T c.(1147-1149)agC>agT p.S383S COAD 7 44800159 44800159 + Missense_Mutation SNP C C T TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chr7:44800159C>T c.1207C>T c.(1207-1209)Ccc>Tcc p.P403S COAD 7 44800160 44800160 + Missense_Mutation SNP C C T TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr7:44800160C>T c.1208C>T c.(1207-1209)cCc>cTc p.P403L COAD 7 44800161 44800161 + Silent SNP C C T TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr7:44800161C>T c.1209C>T c.(1207-1209)ccC>ccT p.P403P COAD 7 44800179 44800179 + Missense_Mutation SNP C C G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr7:44800179C>G c.1227C>G c.(1225-1227)caC>caG p.H409Q COAD 7 44802860 44802860 + Missense_Mutation SNP C C T TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr7:44802860C>T c.1708C>T c.(1708-1710)Cgg>Tgg p.R570W COAD 7 44804057 44804057 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr7:44804057C>T c.1900C>T c.(1900-1902)Cgg>Tgg p.R634W COAD 7 44805021 44805021 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr7:44805021G>A c.2085G>A c.(2083-2085)ccG>ccA p.P695P COAD 7 44806093 44806093 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:44806093C>T c.2486C>T c.(2485-2487)gCc>gTc p.A829V COAD 7 44806214 44806214 + Silent SNP G G C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr7:44806214G>C c.2607G>C c.(2605-2607)ggG>ggC p.G869G COAD 7 44806254 44806254 + Missense_Mutation SNP G G T TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr7:44806254G>T c.2647G>T c.(2647-2649)Gct>Tct p.A883S COADREAD 7 44796130 44796130 + Nonsense_Mutation SNP C C T TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr7:44796130C>T c.157C>T c.(157-159)Cag>Tag p.Q53* COADREAD 7 44796131 44796131 + Missense_Mutation SNP A A G TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr7:44796131A>G c.158A>G c.(157-159)cAg>cGg p.Q53R COADREAD 7 44796659 44796659 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr7:44796659G>A c.279G>A c.(277-279)gcG>gcA p.A93A COADREAD 7 44796714 44796714 + Frame_Shift_Del DEL G G - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr7:44796714delG c.334delG c.(334-336)gggfs p.G113fs COADREAD 7 44797098 44797098 + Missense_Mutation SNP G G T TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr7:44797098G>T c.490G>T c.(490-492)Gcc>Tcc p.A164S COADREAD 7 44797100 44797100 + Silent SNP C C T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr7:44797100C>T c.492C>T c.(490-492)gcC>gcT p.A164A COADREAD 7 44800101 44800101 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr7:44800101C>T c.1149C>T c.(1147-1149)agC>agT p.S383S COADREAD 7 44800159 44800159 + Missense_Mutation SNP C C T TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chr7:44800159C>T c.1207C>T c.(1207-1209)Ccc>Tcc p.P403S COADREAD 7 44800160 44800160 + Missense_Mutation SNP C C T TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr7:44800160C>T c.1208C>T c.(1207-1209)cCc>cTc p.P403L COADREAD 7 44800161 44800161 + Silent SNP C C T TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr7:44800161C>T c.1209C>T c.(1207-1209)ccC>ccT p.P403P COADREAD 7 44800179 44800179 + Missense_Mutation SNP C C G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr7:44800179C>G c.1227C>G c.(1225-1227)caC>caG p.H409Q COADREAD 7 44802860 44802860 + Missense_Mutation SNP C C T TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr7:44802860C>T c.1708C>T c.(1708-1710)Cgg>Tgg p.R570W COADREAD 7 44804057 44804057 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr7:44804057C>T c.1900C>T c.(1900-1902)Cgg>Tgg p.R634W COADREAD 7 44805021 44805021 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr7:44805021G>A c.2085G>A c.(2083-2085)ccG>ccA p.P695P COADREAD 7 44806093 44806093 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:44806093C>T c.2486C>T c.(2485-2487)gCc>gTc p.A829V COADREAD 7 44806214 44806214 + Silent SNP G G C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr7:44806214G>C c.2607G>C c.(2605-2607)ggG>ggC p.G869G COADREAD 7 44806254 44806254 + Missense_Mutation SNP G G T TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr7:44806254G>T c.2647G>T c.(2647-2649)Gct>Tct p.A883S DLBC 7 44804989 44804989 + Missense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr7:44804989G>A c.2053G>A c.(2053-2055)Gtg>Atg p.V685M ESCA 7 44795881 44795881 + Silent SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr7:44795881G>C c.33G>C c.(31-33)ctG>ctC p.L11L ESCA 7 44798936 44798936 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 g.chr7:44798936G>T c.870G>T c.(868-870)caG>caT p.Q290H GBM 7 44798997 44798997 + Missense_Mutation SNP C C T TCGA-32-4208-01A-01D-1353-08 TCGA-32-4208-10A-01D-1353-08 g.chr7:44798997C>T c.931C>T c.(931-933)Ccc>Tcc p.P311S GBM 7 44806136 44806136 + Silent SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr7:44806136G>A c.2529G>A c.(2527-2529)gcG>gcA p.A843A GBMLGG 7 44798997 44798997 + Missense_Mutation SNP C C T TCGA-32-4208-01A-01D-1353-08 TCGA-32-4208-10A-01D-1353-08 g.chr7:44798997C>T c.931C>T c.(931-933)Ccc>Tcc p.P311S GBMLGG 7 44799776 44799776 + Silent SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 g.chr7:44799776C>T c.1020C>T c.(1018-1020)ggC>ggT p.G340G GBMLGG 7 44802511 44802511 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:44802511G>A c.1628G>A c.(1627-1629)cGc>cAc p.R543H GBMLGG 7 44802966 44802966 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:44802966G>A c.1814G>A c.(1813-1815)cGc>cAc p.R605H GBMLGG 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 g.chr7:44805118_44805119insC c.2182_2183insC c.(2182-2184)gccfs p.A728fs GBMLGG 7 44805131 44805131 + Missense_Mutation SNP C C A TCGA-CS-5393-01A-01D-1468-08 TCGA-CS-5393-10A-01D-1468-08 g.chr7:44805131C>A c.2195C>A c.(2194-2196)cCc>cAc p.P732H GBMLGG 7 44806136 44806136 + Silent SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr7:44806136G>A c.2529G>A c.(2527-2529)gcG>gcA p.A843A HNSC 7 44797689 44797689 + Silent SNP C C G TCGA-CV-7178-01A-21D-2012-08 TCGA-CV-7178-10A-01D-2013-08 g.chr7:44797689C>G c.795C>G c.(793-795)gtC>gtG p.V265V HNSC 7 44798983 44798983 + Missense_Mutation SNP C C A TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr7:44798983C>A c.917C>A c.(916-918)cCt>cAt p.P306H HNSC 7 44801094 44801094 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chr7:44801094T>C c.1287T>C c.(1285-1287)gaT>gaC p.D429D HNSC 7 44802519 44802519 + Missense_Mutation SNP G G A TCGA-BA-A6DG-01A-21D-A30E-08 TCGA-BA-A6DG-10A-01D-A30H-08 g.chr7:44802519G>A c.1636G>A c.(1636-1638)Gtc>Atc p.V546I HNSC 7 44804988 44804988 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr7:44804988C>T c.2052C>T c.(2050-2052)ccC>ccT p.P684P HNSC 7 44805102 44805102 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr7:44805102C>T c.2166C>T c.(2164-2166)gcC>gcT p.A722A HNSC 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr7:44805118_44805119insC c.2182_2183insC c.(2182-2184)gccfs p.A728fs HNSC 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 g.chr7:44805118_44805119insC c.2182_2183insC c.(2182-2184)gccfs p.A728fs HNSC 7 44805145 44805145 + Missense_Mutation SNP T T C TCGA-CN-A641-01A-11D-A30E-08 TCGA-CN-A641-10A-01D-A30H-08 g.chr7:44805145T>C c.2209T>C c.(2209-2211)Tca>Cca p.S737P KIPAN 7 44796552 44796552 + Missense_Mutation SNP G G A TCGA-A4-A5DU-01A-11D-A28G-10 TCGA-A4-A5DU-10A-01D-A28G-10 g.chr7:44796552G>A c.172G>A c.(172-174)Ggg>Agg p.G58R KIPAN 7 44796728 44796728 + Silent SNP G G A TCGA-CJ-6028-01A-11D-1669-08 TCGA-CJ-6028-11A-01D-1669-08 g.chr7:44796728G>A c.348G>A c.(346-348)ggG>ggA p.G116G KIPAN 7 44801088 44801088 + Silent SNP G G A TCGA-WN-AB4C-01A-11D-A42J-10 TCGA-WN-AB4C-10A-01D-A42M-10 g.chr7:44801088G>A c.1281G>A c.(1279-1281)gtG>gtA p.V427V KIPAN 7 44801378 44801378 + Missense_Mutation SNP C C G TCGA-B8-5158-01A-01D-1421-08 TCGA-B8-5158-10A-01D-1421-08 g.chr7:44801378C>G c.1470C>G c.(1468-1470)agC>agG p.S490R KIPAN 7 44805139 44805139 + Missense_Mutation SNP C C A TCGA-A3-3311-01A-01D-0966-08 TCGA-A3-3311-11A-01D-0966-08 g.chr7:44805139C>A c.2203C>A c.(2203-2205)Ccc>Acc p.P735T KIPAN 7 44805818 44805818 + Silent SNP C C G TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr7:44805818C>G c.2298C>G c.(2296-2298)ccC>ccG p.P766P KIPAN 7 44807159 44807159 + Frame_Shift_Del DEL G G - TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chr7:44807159delG c.2700delG c.(2698-2700)ttgfs p.L900fs KIRC 7 44796728 44796728 + Silent SNP G G A TCGA-CJ-6028-01A-11D-1669-08 TCGA-CJ-6028-11A-01D-1669-08 g.chr7:44796728G>A c.348G>A c.(346-348)ggG>ggA p.G116G KIRC 7 44801378 44801378 + Missense_Mutation SNP C C G TCGA-B8-5158-01A-01D-1421-08 TCGA-B8-5158-10A-01D-1421-08 g.chr7:44801378C>G c.1470C>G c.(1468-1470)agC>agG p.S490R KIRC 7 44805139 44805139 + Missense_Mutation SNP C C A TCGA-A3-3311-01A-01D-0966-08 TCGA-A3-3311-11A-01D-0966-08 g.chr7:44805139C>A c.2203C>A c.(2203-2205)Ccc>Acc p.P735T KIRP 7 44796552 44796552 + Missense_Mutation SNP G G A TCGA-A4-A5DU-01A-11D-A28G-10 TCGA-A4-A5DU-10A-01D-A28G-10 g.chr7:44796552G>A c.172G>A c.(172-174)Ggg>Agg p.G58R KIRP 7 44801088 44801088 + Silent SNP G G A TCGA-WN-AB4C-01A-11D-A42J-10 TCGA-WN-AB4C-10A-01D-A42M-10 g.chr7:44801088G>A c.1281G>A c.(1279-1281)gtG>gtA p.V427V KIRP 7 44805818 44805818 + Silent SNP C C G TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr7:44805818C>G c.2298C>G c.(2296-2298)ccC>ccG p.P766P KIRP 7 44807159 44807159 + Frame_Shift_Del DEL G G - TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chr7:44807159delG c.2700delG c.(2698-2700)ttgfs p.L900fs LGG 7 44799776 44799776 + Silent SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 g.chr7:44799776C>T c.1020C>T c.(1018-1020)ggC>ggT p.G340G LGG 7 44802511 44802511 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:44802511G>A c.1628G>A c.(1627-1629)cGc>cAc p.R543H LGG 7 44802966 44802966 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:44802966G>A c.1814G>A c.(1813-1815)cGc>cAc p.R605H LGG 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 g.chr7:44805118_44805119insC c.2182_2183insC c.(2182-2184)gccfs p.A728fs LGG 7 44805131 44805131 + Missense_Mutation SNP C C A TCGA-CS-5393-01A-01D-1468-08 TCGA-CS-5393-10A-01D-1468-08 g.chr7:44805131C>A c.2195C>A c.(2194-2196)cCc>cAc p.P732H LIHC 7 44796547 44796547 + Splice_Site DEL T T - TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr7:44796547delT c.167delT c.(166-168)gtt>gt p.V56fs LIHC 7 44797559 44797559 + Missense_Mutation SNP C C G TCGA-G3-A5SK-01A-11D-A27I-10 TCGA-G3-A5SK-10A-01D-A27I-10 g.chr7:44797559C>G c.665C>G c.(664-666)tCt>tGt p.S222C LIHC 7 44806215 44806215 + Frame_Shift_Del DEL C C - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr7:44806215delC c.2608delC c.(2608-2610)cccfs p.P871fs LUAD 7 44796638 44796638 + Silent SNP A A G TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr7:44796638A>G c.258A>G c.(256-258)ccA>ccG p.P86P LUAD 7 44796991 44796992 + Frame_Shift_Ins INS - - A TCGA-17-Z002-01A-01W-0746-08 TCGA-17-Z002-11A-01W-0746-08 g.chr7:44796991_44796992insA c.383_384insA c.(382-387)ccggggfs p.PG128fs LUAD 7 44799010 44799010 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 g.chr7:44799010G>C c.944G>C c.(943-945)gGc>gCc p.G315A LUAD 7 44799012 44799012 + Missense_Mutation SNP A A T TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr7:44799012A>T c.946A>T c.(946-948)Atg>Ttg p.M316L LUAD 7 44800031 44800031 + Missense_Mutation SNP G G T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr7:44800031G>T c.1079G>T c.(1078-1080)cGt>cTt p.R360L LUAD 7 44801092 44801092 + Missense_Mutation SNP G G T TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr7:44801092G>T c.1285G>T c.(1285-1287)Gat>Tat p.D429Y LUAD 7 44801096 44801096 + Missense_Mutation SNP G G T TCGA-83-5908-01A-21D-2284-08 TCGA-83-5908-10A-01D-2284-08 g.chr7:44801096G>T c.1289G>T c.(1288-1290)gGg>gTg p.G430V LUAD 7 44801331 44801331 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr7:44801331G>A c.1423G>A c.(1423-1425)Gag>Aag p.E475K LUAD 7 44801467 44801467 + Missense_Mutation SNP G G T TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr7:44801467G>T c.1559G>T c.(1558-1560)cGc>cTc p.R520L LUAD 7 44801481 44801481 + Missense_Mutation SNP A A G TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chr7:44801481A>G c.1573A>G c.(1573-1575)Atc>Gtc p.I525V LUAD 7 44802527 44802527 + Silent SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr7:44802527G>T c.1644G>T c.(1642-1644)tcG>tcT p.S548S LUAD 7 44802952 44802952 + Frame_Shift_Del DEL C C - TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr7:44802952delC c.1800delC c.(1798-1800)tgcfs p.C600fs LUAD 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 g.chr7:44805118_44805119insC c.2182_2183insC c.(2182-2184)gccfs p.A728fs LUAD 7 44806175 44806175 + Silent SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 g.chr7:44806175G>A c.2568G>A c.(2566-2568)acG>acA p.T856T LUAD 7 44807180 44807180 + Silent SNP G G A TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr7:44807180G>A c.2721G>A c.(2719-2721)acG>acA p.T907T LUSC 7 44796711 44796711 + Missense_Mutation SNP C C T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 g.chr7:44796711C>T c.331C>T c.(331-333)Cgc>Tgc p.R111C LUSC 7 44804560 44804560 + Missense_Mutation SNP G G T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr7:44804560G>T c.1949G>T c.(1948-1950)gGc>gTc p.G650V OV 7 44796130 44796130 + Missense_Mutation SNP C C G TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 g.chr7:44796130C>G c.157C>G c.(157-159)Cag>Gag p.Q53E OV 7 44800159 44800159 + Missense_Mutation SNP C C G TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 g.chr7:44800159C>G c.1207C>G c.(1207-1209)Ccc>Gcc p.P403A OV 7 44804074 44804074 + Nonsense_Mutation SNP T T A TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 g.chr7:44804074T>A c.1917T>A c.(1915-1917)tgT>tgA p.C639* OV 7 44804967 44804967 + Silent SNP G G A TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 g.chr7:44804967G>A c.2031G>A c.(2029-2031)acG>acA p.T677T PAAD 7 44805040 44805040 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:44805040C>T c.2104C>T c.(2104-2106)Cgc>Tgc p.R702C PAAD 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 g.chr7:44805118_44805119insC c.2182_2183insC c.(2182-2184)gccfs p.A728fs PAAD 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 g.chr7:44805118_44805119insC c.2182_2183insC c.(2182-2184)gccfs p.A728fs PAAD 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-S4-A8RO-01A-12D-A377-08 TCGA-S4-A8RO-10A-01D-A37A-08 g.chr7:44805118_44805119insC c.2182_2183insC c.(2182-2184)gccfs p.A728fs PAAD 7 44805162 44805162 + Missense_Mutation SNP C C G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 g.chr7:44805162C>G c.2226C>G c.(2224-2226)agC>agG p.S742R PAAD 7 44806153 44806157 + Frame_Shift_Del DEL GCCAA GCCAA - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chr7:44806153_44806157delGCCAA c.2546_2550delGCCAA c.(2545-2550)ggccaafs p.GQ849fs PAAD 7 44807123 44807123 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:44807123G>A c.2664G>A c.(2662-2664)ccG>ccA p.P888P PRAD 7 44796659 44796659 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:44796659G>A c.279G>A c.(277-279)gcG>gcA p.A93A PRAD 7 44799758 44799758 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:44799758G>A c.1002G>A c.(1000-1002)gaG>gaA p.E334E PRAD 7 44799776 44799776 + Silent SNP C C T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 g.chr7:44799776C>T c.1020C>T c.(1018-1020)ggC>ggT p.G340G PRAD 7 44800044 44800044 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:44800044C>T c.1092C>T c.(1090-1092)ggC>ggT p.G364G PRAD 7 44801486 44801486 + Silent SNP C C G TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 g.chr7:44801486C>G c.1578C>G c.(1576-1578)acC>acG p.T526T PRAD 7 44806203 44806203 + Missense_Mutation SNP G G A TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 g.chr7:44806203G>A c.2596G>A c.(2596-2598)Ggc>Agc p.G866S PRAD 7 44807185 44807185 + Missense_Mutation SNP A A G TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 g.chr7:44807185A>G c.2726A>G c.(2725-2727)aAc>aGc p.N909S SARC 7 44802946 44802946 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr7:44802946G>A c.1794G>A c.(1792-1794)ctG>ctA p.L598L SKCM 7 44795866 44795866 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr7:44795866C>T c.18C>T c.(16-18)ccC>ccT p.P6P SKCM 7 44795885 44795885 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr7:44795885C>T c.37C>T c.(37-39)Cct>Tct p.P13S SKCM 7 44796724 44796724 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr7:44796724C>T c.344C>T c.(343-345)cCt>cTt p.P115L SKCM 7 44797515 44797515 + Silent SNP C C G TCGA-EE-A2A0-06A-11D-A196-08 TCGA-EE-A2A0-10A-01D-A198-08 g.chr7:44797515C>G c.621C>G c.(619-621)ccC>ccG p.P207P SKCM 7 44797655 44797655 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:44797655C>T c.761C>T c.(760-762)cCt>cTt p.P254L SKCM 7 44798934 44798934 + Missense_Mutation SNP C C A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr7:44798934C>A c.868C>A c.(868-870)Cag>Aag p.Q290K SKCM 7 44798973 44798973 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:44798973C>T c.907C>T c.(907-909)Cct>Tct p.P303S SKCM 7 44799042 44799042 + Missense_Mutation SNP A A G TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chr7:44799042A>G c.976A>G c.(976-978)Acg>Gcg p.T326A SKCM 7 44800029 44800029 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:44800029C>T c.1077C>T c.(1075-1077)acC>acT p.T359T SKCM 7 44801181 44801181 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr7:44801181C>T c.1374C>T c.(1372-1374)acC>acT p.T458T SKCM 7 44801501 44801501 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr7:44801501C>T c.1593C>T c.(1591-1593)tgC>tgT p.C531C SKCM 7 44804027 44804027 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:44804027C>T c.1870C>T c.(1870-1872)Ctg>Ttg p.L624L SKCM 7 44805143 44805143 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:44805143C>T c.2207C>T c.(2206-2208)cCc>cTc p.P736L SKCM 7 44805791 44805791 + Silent SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr7:44805791C>T c.2271C>T c.(2269-2271)ttC>ttT p.F757F SKCM 7 44805812 44805812 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr7:44805812C>T c.2292C>T c.(2290-2292)acC>acT p.T764T SKCM 7 44805830 44805830 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr7:44805830C>T c.2310C>T c.(2308-2310)acC>acT p.T770T SKCM 7 44805845 44805845 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr7:44805845C>T c.2325C>T c.(2323-2325)acC>acT p.T775T SKCM 7 44805846 44805846 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr7:44805846C>T c.2326C>T c.(2326-2328)Ccg>Tcg p.P776S SKCM 7 44806154 44806154 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:44806154C>T c.2547C>T c.(2545-2547)ggC>ggT p.G849G SKCM 7 44806175 44806175 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr7:44806175G>A c.2568G>A c.(2566-2568)acG>acA p.T856T

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 7 44796647 44796647 single base substitution G A 3_prime_UTR_variant ALL-US 7 44796647 44796647 single base substitution G A downstream_gene_variant ALL-US 7 44796647 44796647 single base substitution G A synonymous_variant L57L 171G>A ALL-US 7 44796647 44796647 single base substitution G A synonymous_variant L89L 267G>A ALL-US 7 44796647 44796647 single base substitution G A upstream_gene_variant BLCA-CN 7 44796545 44796545 single base substitution G A exon_variant BLCA-CN 7 44796545 44796545 single base substitution G A intron_variant BLCA-CN 7 44796545 44796545 single base substitution G A splice_acceptor_variant BLCA-CN 7 44796545 44796545 single base substitution G A upstream_gene_variant BLCA-CN 7 44805848 44805848 single base substitution G A downstream_gene_variant BLCA-CN 7 44805848 44805848 single base substitution G A exon_variant BLCA-CN 7 44805848 44805848 single base substitution G A synonymous_variant P718P 2154G>A BLCA-CN 7 44805848 44805848 single base substitution G A synonymous_variant P744P 2232G>A BLCA-CN 7 44805848 44805848 single base substitution G A synonymous_variant P750P 2250G>A BLCA-CN 7 44805848 44805848 single base substitution G A synonymous_variant P776P 2328G>A BLCA-US 7 44795867 44795867 single base substitution A G exon_variant BLCA-US 7 44795867 44795867 single base substitution A G missense_variant M7V 19A>G BLCA-US 7 44795867 44795867 single base substitution A G upstream_gene_variant BLCA-US 7 44796036 44796036 single base substitution C T exon_variant BLCA-US 7 44796036 44796036 single base substitution C T synonymous_variant F21F 63C>T BLCA-US 7 44796036 44796036 single base substitution C T upstream_gene_variant BLCA-US 7 44802942 44802942 single base substitution C A exon_variant BLCA-US 7 44802942 44802942 single base substitution C A missense_variant S539Y 1616C>A BLCA-US 7 44802942 44802942 single base substitution C A missense_variant S565Y 1694C>A BLCA-US 7 44802942 44802942 single base substitution C A missense_variant S571Y 1712C>A BLCA-US 7 44802942 44802942 single base substitution C A missense_variant S597Y 1790C>A BLCA-US 7 44802942 44802942 single base substitution C A upstream_gene_variant BRCA-EU 7 44783424 44783424 single base substitution C G upstream_gene_variant BRCA-EU 7 44784581 44784581 single base substitution G T upstream_gene_variant BRCA-EU 7 44785780 44785780 single base substitution T G upstream_gene_variant BRCA-EU 7 44785872 44785872 single base substitution C T upstream_gene_variant BRCA-EU 7 44786720 44786720 single base substitution G A upstream_gene_variant BRCA-EU 7 44787702 44787702 single base substitution C T upstream_gene_variant BRCA-EU 7 44789856 44789856 single base substitution C G intron_variant BRCA-EU 7 44790420 44790420 single base substitution C T intron_variant BRCA-EU 7 44792460 44792460 single base substitution G C intron_variant BRCA-EU 7 44792460 44792460 single base substitution G C upstream_gene_variant BRCA-EU 7 44792588 44792588 insertion of <=200bp - ATCC intron_variant BRCA-EU 7 44792588 44792588 insertion of <=200bp - ATCC upstream_gene_variant BRCA-EU 7 44794929 44794929 single base substitution A G intron_variant BRCA-EU 7 44794929 44794929 single base substitution A G upstream_gene_variant BRCA-EU 7 44795075 44795075 single base substitution C T intron_variant BRCA-EU 7 44795075 44795075 single base substitution C T upstream_gene_variant BRCA-EU 7 44796001 44796001 single base substitution C T intron_variant BRCA-EU 7 44796001 44796001 single base substitution C T upstream_gene_variant BRCA-EU 7 44796676 44796676 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 44796676 44796676 single base substitution C G downstream_gene_variant BRCA-EU 7 44796676 44796676 single base substitution C G missense_variant A67G 200C>G BRCA-EU 7 44796676 44796676 single base substitution C G missense_variant A99G 296C>G BRCA-EU 7 44796676 44796676 single base substitution C G upstream_gene_variant BRCA-EU 7 44798538 44798538 single base substitution G A downstream_gene_variant BRCA-EU 7 44798538 44798538 single base substitution G A intron_variant BRCA-EU 7 44798538 44798538 single base substitution G A upstream_gene_variant BRCA-EU 7 44799395 44799395 single base substitution T C downstream_gene_variant BRCA-EU 7 44799395 44799395 single base substitution T C exon_variant BRCA-EU 7 44799395 44799395 single base substitution T C intron_variant BRCA-EU 7 44799395 44799395 single base substitution T C upstream_gene_variant BRCA-EU 7 44800766 44800766 single base substitution G A downstream_gene_variant BRCA-EU 7 44800766 44800766 single base substitution G A intron_variant BRCA-EU 7 44800766 44800766 single base substitution G A upstream_gene_variant BRCA-EU 7 44802865 44802865 single base substitution C A exon_variant BRCA-EU 7 44802865 44802865 single base substitution C A missense_variant N513K 1539C>A BRCA-EU 7 44802865 44802865 single base substitution C A missense_variant N539K 1617C>A BRCA-EU 7 44802865 44802865 single base substitution C A missense_variant N545K 1635C>A BRCA-EU 7 44802865 44802865 single base substitution C A missense_variant N571K 1713C>A BRCA-EU 7 44802865 44802865 single base substitution C A upstream_gene_variant BRCA-EU 7 44805133 44805133 single base substitution C T downstream_gene_variant BRCA-EU 7 44805133 44805133 single base substitution C T exon_variant BRCA-EU 7 44805133 44805133 single base substitution C T synonymous_variant L675L 2023C>T BRCA-EU 7 44805133 44805133 single base substitution C T synonymous_variant L701L 2101C>T BRCA-EU 7 44805133 44805133 single base substitution C T synonymous_variant L707L 2119C>T BRCA-EU 7 44805133 44805133 single base substitution C T synonymous_variant L733L 2197C>T BRCA-EU 7 44805133 44805133 single base substitution C T upstream_gene_variant BRCA-EU 7 44805370 44805370 single base substitution G T downstream_gene_variant BRCA-EU 7 44805370 44805370 single base substitution G T exon_variant BRCA-EU 7 44805370 44805370 single base substitution G T intron_variant BRCA-EU 7 44805405 44805405 single base substitution C A downstream_gene_variant BRCA-EU 7 44805405 44805405 single base substitution C A exon_variant BRCA-EU 7 44805405 44805405 single base substitution C A intron_variant BRCA-EU 7 44806996 44806996 single base substitution G T downstream_gene_variant BRCA-EU 7 44806996 44806996 single base substitution G T intron_variant BRCA-EU 7 44807938 44807938 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 44807938 44807938 single base substitution G A downstream_gene_variant BRCA-EU 7 44807938 44807938 single base substitution G A exon_variant BRCA-EU 7 44807955 44807955 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 44807955 44807955 single base substitution A G downstream_gene_variant BRCA-EU 7 44807955 44807955 single base substitution A G exon_variant BRCA-EU 7 44808349 44808349 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 44808349 44808349 single base substitution G A downstream_gene_variant BRCA-EU 7 44808390 44808390 single base substitution G T 3_prime_UTR_variant BRCA-EU 7 44808390 44808390 single base substitution G T downstream_gene_variant BRCA-EU 7 44808947 44808947 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 44808947 44808947 single base substitution C T downstream_gene_variant BRCA-EU 7 44809338 44809338 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 44809338 44809338 single base substitution C G downstream_gene_variant BRCA-EU 7 44809591 44809591 single base substitution G A downstream_gene_variant BRCA-EU 7 44811533 44811533 single base substitution G C downstream_gene_variant BRCA-EU 7 44812040 44812040 single base substitution G C downstream_gene_variant BRCA-EU 7 44814334 44814334 single base substitution C T downstream_gene_variant BRCA-FR 7 44790420 44790420 single base substitution C T intron_variant BRCA-FR 7 44792460 44792460 single base substitution G C intron_variant BRCA-FR 7 44792460 44792460 single base substitution G C upstream_gene_variant BRCA-FR 7 44808282 44808282 single base substitution C T 3_prime_UTR_variant BRCA-FR 7 44808282 44808282 single base substitution C T downstream_gene_variant BRCA-FR 7 44808282 44808282 single base substitution C T exon_variant BRCA-FR 7 44811376 44811376 single base substitution G T downstream_gene_variant BRCA-KR 7 44801323 44801323 single base substitution A G downstream_gene_variant BRCA-KR 7 44801323 44801323 single base substitution A G exon_variant BRCA-KR 7 44801323 44801323 single base substitution A G missense_variant Y414C 1241A>G BRCA-KR 7 44801323 44801323 single base substitution A G missense_variant Y440C 1319A>G BRCA-KR 7 44801323 44801323 single base substitution A G missense_variant Y446C 1337A>G BRCA-KR 7 44801323 44801323 single base substitution A G missense_variant Y472C 1415A>G BRCA-KR 7 44801323 44801323 single base substitution A G upstream_gene_variant BRCA-UK 7 44784581 44784581 single base substitution G T upstream_gene_variant BRCA-UK 7 44789895 44789895 single base substitution G A intron_variant BRCA-UK 7 44791077 44791077 single base substitution G C intron_variant BRCA-UK 7 44791077 44791077 single base substitution G C upstream_gene_variant BRCA-UK 7 44801113 44801113 deletion of <=200bp T - downstream_gene_variant BRCA-UK 7 44801113 44801113 deletion of <=200bp T - exon_variant BRCA-UK 7 44801113 44801113 deletion of <=200bp T - frameshift_variant F378 BRCA-UK 7 44801113 44801113 deletion of <=200bp T - frameshift_variant F404 BRCA-UK 7 44801113 44801113 deletion of <=200bp T - frameshift_variant F410 BRCA-UK 7 44801113 44801113 deletion of <=200bp T - frameshift_variant F436 BRCA-UK 7 44801113 44801113 deletion of <=200bp T - upstream_gene_variant BRCA-UK 7 44802188 44802188 single base substitution C T intron_variant BRCA-UK 7 44802188 44802188 single base substitution C T upstream_gene_variant BRCA-UK 7 44808390 44808390 single base substitution G T 3_prime_UTR_variant BRCA-UK 7 44808390 44808390 single base substitution G T downstream_gene_variant BRCA-US 7 44795851 44795851 single base substitution G A exon_variant BRCA-US 7 44795851 44795851 single base substitution G A start_lost M1I 3G>A BRCA-US 7 44795851 44795851 single base substitution G A upstream_gene_variant BRCA-US 7 44802875 44802875 single base substitution G T exon_variant BRCA-US 7 44802875 44802875 single base substitution G T missense_variant G517C 1549G>T BRCA-US 7 44802875 44802875 single base substitution G T missense_variant G543C 1627G>T BRCA-US 7 44802875 44802875 single base substitution G T missense_variant G549C 1645G>T BRCA-US 7 44802875 44802875 single base substitution G T missense_variant G575C 1723G>T BRCA-US 7 44802875 44802875 single base substitution G T upstream_gene_variant BRCA-US 7 44802918 44802918 single base substitution T G exon_variant BRCA-US 7 44802918 44802918 single base substitution T G missense_variant V531G 1592T>G BRCA-US 7 44802918 44802918 single base substitution T G missense_variant V557G 1670T>G BRCA-US 7 44802918 44802918 single base substitution T G missense_variant V563G 1688T>G BRCA-US 7 44802918 44802918 single base substitution T G missense_variant V589G 1766T>G BRCA-US 7 44802918 44802918 single base substitution T G upstream_gene_variant BRCA-US 7 44802938 44802938 single base substitution G A exon_variant BRCA-US 7 44802938 44802938 single base substitution G A missense_variant V538M 1612G>A BRCA-US 7 44802938 44802938 single base substitution G A missense_variant V564M 1690G>A BRCA-US 7 44802938 44802938 single base substitution G A missense_variant V570M 1708G>A BRCA-US 7 44802938 44802938 single base substitution G A missense_variant V596M 1786G>A BRCA-US 7 44802938 44802938 single base substitution G A upstream_gene_variant BTCA-JP 7 44796992 44796992 deletion of <=200bp G - 3_prime_UTR_variant BTCA-JP 7 44796992 44796992 deletion of <=200bp G - downstream_gene_variant BTCA-JP 7 44796992 44796992 deletion of <=200bp G - frameshift_variant P128 BTCA-JP 7 44796992 44796992 deletion of <=200bp G - frameshift_variant P96 BTCA-JP 7 44796992 44796992 deletion of <=200bp G - upstream_gene_variant BTCA-JP 7 44797452 44797452 single base substitution G A downstream_gene_variant BTCA-JP 7 44797452 44797452 single base substitution G A synonymous_variant G154G 462G>A BTCA-JP 7 44797452 44797452 single base substitution G A synonymous_variant G186G 558G>A BTCA-JP 7 44797452 44797452 single base substitution G A upstream_gene_variant BTCA-JP 7 44800298 44800298 single base substitution G A downstream_gene_variant BTCA-JP 7 44800298 44800298 single base substitution G A intron_variant BTCA-JP 7 44800298 44800298 single base substitution G A upstream_gene_variant BTCA-JP 7 44801032 44801032 single base substitution T C downstream_gene_variant BTCA-JP 7 44801032 44801032 single base substitution T C intron_variant BTCA-JP 7 44801032 44801032 single base substitution T C upstream_gene_variant BTCA-JP 7 44802751 44802751 single base substitution C T intron_variant BTCA-JP 7 44802751 44802751 single base substitution C T upstream_gene_variant BTCA-JP 7 44802755 44802755 single base substitution C T intron_variant BTCA-JP 7 44802755 44802755 single base substitution C T upstream_gene_variant BTCA-JP 7 44807178 44807178 single base substitution A G downstream_gene_variant BTCA-JP 7 44807178 44807178 single base substitution A G exon_variant BTCA-JP 7 44807178 44807178 single base substitution A G missense_variant T849A 2545A>G BTCA-JP 7 44807178 44807178 single base substitution A G missense_variant T875A 2623A>G BTCA-JP 7 44807178 44807178 single base substitution A G missense_variant T881A 2641A>G BTCA-JP 7 44807178 44807178 single base substitution A G missense_variant T907A 2719A>G CESC-US 7 44796622 44796622 single base substitution C T 3_prime_UTR_variant CESC-US 7 44796622 44796622 single base substitution C T downstream_gene_variant CESC-US 7 44796622 44796622 single base substitution C T intron_variant CESC-US 7 44796622 44796622 single base substitution C T missense_variant S81F 242C>T CESC-US 7 44796622 44796622 single base substitution C T upstream_gene_variant CESC-US 7 44804562 44804562 single base substitution C T exon_variant CESC-US 7 44804562 44804562 single base substitution C T synonymous_variant L593L 1777C>T CESC-US 7 44804562 44804562 single base substitution C T synonymous_variant L619L 1855C>T CESC-US 7 44804562 44804562 single base substitution C T synonymous_variant L625L 1873C>T CESC-US 7 44804562 44804562 single base substitution C T synonymous_variant L651L 1951C>T CESC-US 7 44804562 44804562 single base substitution C T upstream_gene_variant CLLE-ES 7 44784329 44784329 single base substitution C T upstream_gene_variant COAD-US 7 44796714 44796714 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 7 44796714 44796714 deletion of <=200bp G - downstream_gene_variant COAD-US 7 44796714 44796714 deletion of <=200bp G - frameshift_variant G112 COAD-US 7 44796714 44796714 deletion of <=200bp G - frameshift_variant G80 COAD-US 7 44796714 44796714 deletion of <=200bp G - upstream_gene_variant COAD-US 7 44800179 44800179 single base substitution C G downstream_gene_variant COAD-US 7 44800179 44800179 single base substitution C G exon_variant COAD-US 7 44800179 44800179 single base substitution C G missense_variant H351Q 1053C>G COAD-US 7 44800179 44800179 single base substitution C G missense_variant H377Q 1131C>G COAD-US 7 44800179 44800179 single base substitution C G missense_variant H383Q 1149C>G COAD-US 7 44800179 44800179 single base substitution C G missense_variant H409Q 1227C>G COAD-US 7 44800179 44800179 single base substitution C G upstream_gene_variant COAD-US 7 44802860 44802860 single base substitution C T exon_variant COAD-US 7 44802860 44802860 single base substitution C T missense_variant R512W 1534C>T COAD-US 7 44802860 44802860 single base substitution C T missense_variant R538W 1612C>T COAD-US 7 44802860 44802860 single base substitution C T missense_variant R544W 1630C>T COAD-US 7 44802860 44802860 single base substitution C T missense_variant R570W 1708C>T COAD-US 7 44802860 44802860 single base substitution C T upstream_gene_variant COAD-US 7 44805060 44805060 single base substitution C T exon_variant COAD-US 7 44805060 44805060 single base substitution C T synonymous_variant P650P 1950C>T COAD-US 7 44805060 44805060 single base substitution C T synonymous_variant P676P 2028C>T COAD-US 7 44805060 44805060 single base substitution C T synonymous_variant P682P 2046C>T COAD-US 7 44805060 44805060 single base substitution C T synonymous_variant P708P 2124C>T COAD-US 7 44805060 44805060 single base substitution C T upstream_gene_variant COAD-US 7 44806093 44806093 single base substitution C T downstream_gene_variant COAD-US 7 44806093 44806093 single base substitution C T exon_variant COAD-US 7 44806093 44806093 single base substitution C T missense_variant A771V 2312C>T COAD-US 7 44806093 44806093 single base substitution C T missense_variant A797V 2390C>T COAD-US 7 44806093 44806093 single base substitution C T missense_variant A803V 2408C>T COAD-US 7 44806093 44806093 single base substitution C T missense_variant A829V 2486C>T COAD-US 7 44806214 44806214 single base substitution G C downstream_gene_variant COAD-US 7 44806214 44806214 single base substitution G C exon_variant COAD-US 7 44806214 44806214 single base substitution G C synonymous_variant G811G 2433G>C COAD-US 7 44806214 44806214 single base substitution G C synonymous_variant G837G 2511G>C COAD-US 7 44806214 44806214 single base substitution G C synonymous_variant G843G 2529G>C COAD-US 7 44806214 44806214 single base substitution G C synonymous_variant G869G 2607G>C COAD-US 7 44806254 44806254 single base substitution G T downstream_gene_variant COAD-US 7 44806254 44806254 single base substitution G T exon_variant COAD-US 7 44806254 44806254 single base substitution G T missense_variant A825S 2473G>T COAD-US 7 44806254 44806254 single base substitution G T missense_variant A851S 2551G>T COAD-US 7 44806254 44806254 single base substitution G T missense_variant A857S 2569G>T COAD-US 7 44806254 44806254 single base substitution G T missense_variant A883S 2647G>T COCA-CN 7 44784866 44784866 single base substitution G A upstream_gene_variant COCA-CN 7 44787211 44787211 single base substitution G A upstream_gene_variant COCA-CN 7 44788115 44788115 single base substitution C T upstream_gene_variant COCA-CN 7 44796109 44796109 single base substitution T C exon_variant COCA-CN 7 44796109 44796109 single base substitution T C missense_variant W46R 136T>C COCA-CN 7 44796109 44796109 single base substitution T C upstream_gene_variant COCA-CN 7 44796553 44796553 single base substitution G A exon_variant COCA-CN 7 44796553 44796553 single base substitution G A intron_variant COCA-CN 7 44796553 44796553 single base substitution G A missense_variant G58E 173G>A COCA-CN 7 44796553 44796553 single base substitution G A upstream_gene_variant COCA-CN 7 44796848 44796848 single base substitution T C downstream_gene_variant COCA-CN 7 44796848 44796848 single base substitution T C intron_variant COCA-CN 7 44796848 44796848 single base substitution T C upstream_gene_variant COCA-CN 7 44799347 44799347 single base substitution T C downstream_gene_variant COCA-CN 7 44799347 44799347 single base substitution T C exon_variant COCA-CN 7 44799347 44799347 single base substitution T C intron_variant COCA-CN 7 44799347 44799347 single base substitution T C upstream_gene_variant COCA-CN 7 44799705 44799705 single base substitution G T downstream_gene_variant COCA-CN 7 44799705 44799705 single base substitution G T exon_variant COCA-CN 7 44799705 44799705 single base substitution G T intron_variant COCA-CN 7 44799705 44799705 single base substitution G T upstream_gene_variant COCA-CN 7 44800219 44800219 single base substitution G A downstream_gene_variant COCA-CN 7 44800219 44800219 single base substitution G A intron_variant COCA-CN 7 44800219 44800219 single base substitution G A upstream_gene_variant COCA-CN 7 44805984 44805984 single base substitution T C downstream_gene_variant COCA-CN 7 44805984 44805984 single base substitution T C intron_variant COCA-CN 7 44806159 44806159 single base substitution C T downstream_gene_variant COCA-CN 7 44806159 44806159 single base substitution C T exon_variant COCA-CN 7 44806159 44806159 single base substitution C T missense_variant A793V 2378C>T COCA-CN 7 44806159 44806159 single base substitution C T missense_variant A819V 2456C>T COCA-CN 7 44806159 44806159 single base substitution C T missense_variant A825V 2474C>T COCA-CN 7 44806159 44806159 single base substitution C T missense_variant A851V 2552C>T COCA-CN 7 44807185 44807185 single base substitution A G downstream_gene_variant COCA-CN 7 44807185 44807185 single base substitution A G exon_variant COCA-CN 7 44807185 44807185 single base substitution A G missense_variant N851S 2552A>G COCA-CN 7 44807185 44807185 single base substitution A G missense_variant N877S 2630A>G COCA-CN 7 44807185 44807185 single base substitution A G missense_variant N883S 2648A>G COCA-CN 7 44807185 44807185 single base substitution A G missense_variant N909S 2726A>G ESAD-UK 7 44783735 44783735 single base substitution A T upstream_gene_variant ESAD-UK 7 44785023 44785023 single base substitution C T upstream_gene_variant ESAD-UK 7 44785032 44785032 insertion of <=200bp - G upstream_gene_variant ESAD-UK 7 44785601 44785601 single base substitution T G upstream_gene_variant ESAD-UK 7 44786980 44786980 single base substitution C A upstream_gene_variant ESAD-UK 7 44787005 44787005 single base substitution C T upstream_gene_variant ESAD-UK 7 44788048 44788048 single base substitution G T upstream_gene_variant ESAD-UK 7 44788122 44788122 single base substitution G A upstream_gene_variant ESAD-UK 7 44789014 44789014 single base substitution C T intron_variant ESAD-UK 7 44789148 44789148 single base substitution G A intron_variant ESAD-UK 7 44790324 44790324 single base substitution A G intron_variant ESAD-UK 7 44790601 44790601 single base substitution G C 5_prime_UTR_variant ESAD-UK 7 44790601 44790601 single base substitution G C intron_variant ESAD-UK 7 44791748 44791748 single base substitution G A intron_variant ESAD-UK 7 44791748 44791748 single base substitution G A upstream_gene_variant ESAD-UK 7 44792831 44792831 single base substitution G C intron_variant ESAD-UK 7 44792831 44792831 single base substitution G C upstream_gene_variant ESAD-UK 7 44795301 44795301 single base substitution G A intron_variant ESAD-UK 7 44795301 44795301 single base substitution G A upstream_gene_variant ESAD-UK 7 44797437 44797437 single base substitution C T downstream_gene_variant ESAD-UK 7 44797437 44797437 single base substitution C T intron_variant ESAD-UK 7 44797437 44797437 single base substitution C T upstream_gene_variant ESAD-UK 7 44797850 44797850 single base substitution G T downstream_gene_variant ESAD-UK 7 44797850 44797850 single base substitution G T intron_variant ESAD-UK 7 44797850 44797850 single base substitution G T upstream_gene_variant ESAD-UK 7 44802966 44802966 single base substitution G A exon_variant ESAD-UK 7 44802966 44802966 single base substitution G A missense_variant R547H 1640G>A ESAD-UK 7 44802966 44802966 single base substitution G A missense_variant R573H 1718G>A ESAD-UK 7 44802966 44802966 single base substitution G A missense_variant R579H 1736G>A ESAD-UK 7 44802966 44802966 single base substitution G A missense_variant R605H 1814G>A ESAD-UK 7 44802966 44802966 single base substitution G A upstream_gene_variant ESAD-UK 7 44808416 44808416 single base substitution A G 3_prime_UTR_variant ESAD-UK 7 44808416 44808416 single base substitution A G downstream_gene_variant ESAD-UK 7 44808757 44808757 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 44808757 44808757 single base substitution C T downstream_gene_variant ESAD-UK 7 44808773 44808773 single base substitution C G 3_prime_UTR_variant ESAD-UK 7 44808773 44808773 single base substitution C G downstream_gene_variant ESAD-UK 7 44809347 44809347 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 44809347 44809347 single base substitution G A downstream_gene_variant ESAD-UK 7 44811860 44811860 single base substitution T C downstream_gene_variant ESCA-CN 7 44802379 44802379 single base substitution A C intron_variant ESCA-CN 7 44802379 44802379 single base substitution A C upstream_gene_variant ESCA-CN 7 44802382 44802382 single base substitution T C intron_variant ESCA-CN 7 44802382 44802382 single base substitution T C upstream_gene_variant GBM-US 7 44798997 44798997 single base substitution C T downstream_gene_variant GBM-US 7 44798997 44798997 single base substitution C T missense_variant P279S 835C>T GBM-US 7 44798997 44798997 single base substitution C T missense_variant P311S 931C>T GBM-US 7 44798997 44798997 single base substitution C T upstream_gene_variant GBM-US 7 44806136 44806136 single base substitution G A downstream_gene_variant GBM-US 7 44806136 44806136 single base substitution G A exon_variant GBM-US 7 44806136 44806136 single base substitution G A synonymous_variant A785A 2355G>A GBM-US 7 44806136 44806136 single base substitution G A synonymous_variant A811A 2433G>A GBM-US 7 44806136 44806136 single base substitution G A synonymous_variant A817A 2451G>A GBM-US 7 44806136 44806136 single base substitution G A synonymous_variant A843A 2529G>A KIRC-US 7 44796728 44796728 single base substitution G A 3_prime_UTR_variant KIRC-US 7 44796728 44796728 single base substitution G A downstream_gene_variant KIRC-US 7 44796728 44796728 single base substitution G A synonymous_variant G116G 348G>A KIRC-US 7 44796728 44796728 single base substitution G A synonymous_variant G84G 252G>A KIRC-US 7 44796728 44796728 single base substitution G A upstream_gene_variant KIRC-US 7 44801378 44801378 single base substitution C G downstream_gene_variant KIRC-US 7 44801378 44801378 single base substitution C G exon_variant KIRC-US 7 44801378 44801378 single base substitution C G missense_variant S432R 1296C>G KIRC-US 7 44801378 44801378 single base substitution C G missense_variant S458R 1374C>G KIRC-US 7 44801378 44801378 single base substitution C G missense_variant S464R 1392C>G KIRC-US 7 44801378 44801378 single base substitution C G missense_variant S490R 1470C>G KIRC-US 7 44801378 44801378 single base substitution C G upstream_gene_variant KIRP-US 7 44796552 44796552 single base substitution G A exon_variant KIRP-US 7 44796552 44796552 single base substitution G A intron_variant KIRP-US 7 44796552 44796552 single base substitution G A missense_variant G58R 172G>A KIRP-US 7 44796552 44796552 single base substitution G A upstream_gene_variant KIRP-US 7 44805818 44805818 single base substitution C G downstream_gene_variant KIRP-US 7 44805818 44805818 single base substitution C G exon_variant KIRP-US 7 44805818 44805818 single base substitution C G synonymous_variant P708P 2124C>G KIRP-US 7 44805818 44805818 single base substitution C G synonymous_variant P734P 2202C>G KIRP-US 7 44805818 44805818 single base substitution C G synonymous_variant P740P 2220C>G KIRP-US 7 44805818 44805818 single base substitution C G synonymous_variant P766P 2298C>G KIRP-US 7 44807159 44807159 deletion of <=200bp G - downstream_gene_variant KIRP-US 7 44807159 44807159 deletion of <=200bp G - exon_variant KIRP-US 7 44807159 44807159 deletion of <=200bp G - frameshift_variant L842 KIRP-US 7 44807159 44807159 deletion of <=200bp G - frameshift_variant L868 KIRP-US 7 44807159 44807159 deletion of <=200bp G - frameshift_variant L874 KIRP-US 7 44807159 44807159 deletion of <=200bp G - frameshift_variant L900 LAML-KR 7 44796792 44796792 single base substitution A T downstream_gene_variant LAML-KR 7 44796792 44796792 single base substitution A T intron_variant LAML-KR 7 44796792 44796792 single base substitution A T upstream_gene_variant LAML-KR 7 44802346 44802346 single base substitution A C intron_variant LAML-KR 7 44802346 44802346 single base substitution A C upstream_gene_variant LAML-KR 7 44804049 44804049 single base substitution A G exon_variant LAML-KR 7 44804049 44804049 single base substitution A G missense_variant N573S 1718A>G LAML-KR 7 44804049 44804049 single base substitution A G missense_variant N599S 1796A>G LAML-KR 7 44804049 44804049 single base substitution A G missense_variant N605S 1814A>G LAML-KR 7 44804049 44804049 single base substitution A G missense_variant N631S 1892A>G LAML-KR 7 44804049 44804049 single base substitution A G upstream_gene_variant LGG-US 7 44799776 44799776 single base substitution C T downstream_gene_variant LGG-US 7 44799776 44799776 single base substitution C T exon_variant LGG-US 7 44799776 44799776 single base substitution C T intron_variant LGG-US 7 44799776 44799776 single base substitution C T synonymous_variant G308G 924C>T LGG-US 7 44799776 44799776 single base substitution C T synonymous_variant G340G 1020C>T LGG-US 7 44799776 44799776 single base substitution C T upstream_gene_variant LGG-US 7 44805131 44805131 single base substitution C A downstream_gene_variant LGG-US 7 44805131 44805131 single base substitution C A exon_variant LGG-US 7 44805131 44805131 single base substitution C A missense_variant P674H 2021C>A LGG-US 7 44805131 44805131 single base substitution C A missense_variant P700H 2099C>A LGG-US 7 44805131 44805131 single base substitution C A missense_variant P706H 2117C>A LGG-US 7 44805131 44805131 single base substitution C A missense_variant P732H 2195C>A LGG-US 7 44805131 44805131 single base substitution C A upstream_gene_variant LICA-CN 7 44805862 44805862 single base substitution T C downstream_gene_variant LICA-CN 7 44805862 44805862 single base substitution T C exon_variant LICA-CN 7 44805862 44805862 single base substitution T C missense_variant I723T 2168T>C LICA-CN 7 44805862 44805862 single base substitution T C missense_variant I749T 2246T>C LICA-CN 7 44805862 44805862 single base substitution T C missense_variant I755T 2264T>C LICA-CN 7 44805862 44805862 single base substitution T C missense_variant I781T 2342T>C LICA-FR 7 44785872 44785872 single base substitution C A upstream_gene_variant LICA-FR 7 44787923 44787923 single base substitution C A upstream_gene_variant LICA-FR 7 44800448 44800449 deletion of <=200bp AA - downstream_gene_variant LICA-FR 7 44800448 44800449 deletion of <=200bp AA - intron_variant LICA-FR 7 44800448 44800449 deletion of <=200bp AA - upstream_gene_variant LICA-FR 7 44806036 44806036 single base substitution A C downstream_gene_variant LICA-FR 7 44806036 44806036 single base substitution A C exon_variant LICA-FR 7 44806036 44806036 single base substitution A C missense_variant H752P 2255A>C LICA-FR 7 44806036 44806036 single base substitution A C missense_variant H778P 2333A>C LICA-FR 7 44806036 44806036 single base substitution A C missense_variant H784P 2351A>C LICA-FR 7 44806036 44806036 single base substitution A C missense_variant H810P 2429A>C LIHC-US 7 44795852 44795852 single base substitution A T exon_variant LIHC-US 7 44795852 44795852 single base substitution A T missense_variant N2Y 4A>T LIHC-US 7 44795852 44795852 single base substitution A T upstream_gene_variant LIHC-US 7 44797559 44797559 single base substitution C G downstream_gene_variant LIHC-US 7 44797559 44797559 single base substitution C G missense_variant S190C 569C>G LIHC-US 7 44797559 44797559 single base substitution C G missense_variant S222C 665C>G LIHC-US 7 44797559 44797559 single base substitution C G upstream_gene_variant LIHC-US 7 44798889 44798889 single base substitution G A downstream_gene_variant LIHC-US 7 44798889 44798889 single base substitution G A missense_variant G243R 727G>A LIHC-US 7 44798889 44798889 single base substitution G A missense_variant G275R 823G>A LIHC-US 7 44798889 44798889 single base substitution G A upstream_gene_variant LINC-JP 7 44795631 44795631 single base substitution C G intron_variant LINC-JP 7 44795631 44795631 single base substitution C G upstream_gene_variant LINC-JP 7 44802614 44802614 single base substitution G A intron_variant LINC-JP 7 44802614 44802614 single base substitution G A upstream_gene_variant LINC-JP 7 44804281 44804281 single base substitution T G intron_variant LINC-JP 7 44804281 44804281 single base substitution T G upstream_gene_variant LIRI-JP 7 44785809 44785809 single base substitution T C upstream_gene_variant LIRI-JP 7 44786794 44786794 single base substitution T C upstream_gene_variant LIRI-JP 7 44786897 44786897 single base substitution C T upstream_gene_variant LIRI-JP 7 44787751 44787751 single base substitution G C upstream_gene_variant LIRI-JP 7 44789928 44789928 single base substitution A G intron_variant LIRI-JP 7 44793732 44793732 deletion of <=200bp G - intron_variant LIRI-JP 7 44793732 44793732 deletion of <=200bp G - upstream_gene_variant LIRI-JP 7 44794393 44794393 single base substitution G A intron_variant LIRI-JP 7 44794393 44794393 single base substitution G A upstream_gene_variant LIRI-JP 7 44794502 44794502 single base substitution T C intron_variant LIRI-JP 7 44794502 44794502 single base substitution T C upstream_gene_variant LIRI-JP 7 44802008 44802008 single base substitution G T downstream_gene_variant LIRI-JP 7 44802008 44802008 single base substitution G T intron_variant LIRI-JP 7 44802008 44802008 single base substitution G T upstream_gene_variant LIRI-JP 7 44804241 44804241 single base substitution A G intron_variant LIRI-JP 7 44804241 44804241 single base substitution A G upstream_gene_variant LIRI-JP 7 44807280 44807280 single base substitution C T 3_prime_UTR_variant LIRI-JP 7 44807280 44807280 single base substitution C T downstream_gene_variant LIRI-JP 7 44807280 44807280 single base substitution C T exon_variant LIRI-JP 7 44808931 44808932 deletion of <=200bp TG - 3_prime_UTR_variant LIRI-JP 7 44808931 44808932 deletion of <=200bp TG - downstream_gene_variant LIRI-JP 7 44809671 44809671 single base substitution T G downstream_gene_variant LIRI-JP 7 44810785 44810785 single base substitution G A downstream_gene_variant LIRI-JP 7 44812052 44812052 single base substitution A G downstream_gene_variant LIRI-JP 7 44812181 44812181 single base substitution G A downstream_gene_variant LIRI-JP 7 44813945 44813945 single base substitution A G downstream_gene_variant LUSC-KR 7 44783623 44783623 single base substitution G T upstream_gene_variant LUSC-KR 7 44787207 44787207 single base substitution G A upstream_gene_variant LUSC-KR 7 44787211 44787211 single base substitution G A upstream_gene_variant LUSC-KR 7 44803969 44803969 single base substitution C T intron_variant LUSC-KR 7 44803969 44803969 single base substitution C T upstream_gene_variant LUSC-KR 7 44804049 44804049 single base substitution A G exon_variant LUSC-KR 7 44804049 44804049 single base substitution A G missense_variant N573S 1718A>G LUSC-KR 7 44804049 44804049 single base substitution A G missense_variant N599S 1796A>G LUSC-KR 7 44804049 44804049 single base substitution A G missense_variant N605S 1814A>G LUSC-KR 7 44804049 44804049 single base substitution A G missense_variant N631S 1892A>G LUSC-KR 7 44804049 44804049 single base substitution A G upstream_gene_variant LUSC-KR 7 44804395 44804395 single base substitution C T intron_variant LUSC-KR 7 44804395 44804395 single base substitution C T upstream_gene_variant LUSC-KR 7 44812810 44812810 single base substitution C A downstream_gene_variant LUSC-US 7 44796711 44796711 single base substitution C T 3_prime_UTR_variant LUSC-US 7 44796711 44796711 single base substitution C T downstream_gene_variant LUSC-US 7 44796711 44796711 single base substitution C T missense_variant R111C 331C>T LUSC-US 7 44796711 44796711 single base substitution C T missense_variant R79C 235C>T LUSC-US 7 44796711 44796711 single base substitution C T upstream_gene_variant LUSC-US 7 44804560 44804560 single base substitution G T exon_variant LUSC-US 7 44804560 44804560 single base substitution G T missense_variant G592V 1775G>T LUSC-US 7 44804560 44804560 single base substitution G T missense_variant G618V 1853G>T LUSC-US 7 44804560 44804560 single base substitution G T missense_variant G624V 1871G>T LUSC-US 7 44804560 44804560 single base substitution G T missense_variant G650V 1949G>T LUSC-US 7 44804560 44804560 single base substitution G T upstream_gene_variant MALY-DE 7 44785644 44785644 insertion of <=200bp - T upstream_gene_variant MALY-DE 7 44799610 44799610 single base substitution G A downstream_gene_variant MALY-DE 7 44799610 44799610 single base substitution G A exon_variant MALY-DE 7 44799610 44799610 single base substitution G A intron_variant MALY-DE 7 44799610 44799610 single base substitution G A upstream_gene_variant MALY-DE 7 44803825 44803825 single base substitution C T intron_variant MALY-DE 7 44803825 44803825 single base substitution C T upstream_gene_variant MALY-DE 7 44806549 44806549 single base substitution T G downstream_gene_variant MALY-DE 7 44806549 44806549 single base substitution T G intron_variant MALY-DE 7 44809566 44809566 single base substitution A G downstream_gene_variant MELA-AU 7 44783558 44783558 single base substitution C T upstream_gene_variant MELA-AU 7 44783564 44783564 single base substitution C T upstream_gene_variant MELA-AU 7 44783614 44783614 single base substitution C T upstream_gene_variant MELA-AU 7 44783806 44783806 single base substitution C T upstream_gene_variant MELA-AU 7 44784117 44784117 single base substitution C T upstream_gene_variant MELA-AU 7 44784274 44784275 multiple base substitution (>=2bp and <=200bp) GC TT upstream_gene_variant MELA-AU 7 44784631 44784631 single base substitution G A upstream_gene_variant MELA-AU 7 44784977 44784977 single base substitution C T upstream_gene_variant MELA-AU 7 44785843 44785843 single base substitution G A upstream_gene_variant MELA-AU 7 44785950 44785950 single base substitution T C upstream_gene_variant MELA-AU 7 44786607 44786607 single base substitution C T upstream_gene_variant MELA-AU 7 44786700 44786700 single base substitution G A upstream_gene_variant MELA-AU 7 44787081 44787081 single base substitution G A upstream_gene_variant MELA-AU 7 44787204 44787204 single base substitution A G upstream_gene_variant MELA-AU 7 44787814 44787814 single base substitution T C upstream_gene_variant MELA-AU 7 44788076 44788076 single base substitution C T upstream_gene_variant MELA-AU 7 44788105 44788105 single base substitution G A upstream_gene_variant MELA-AU 7 44788148 44788148 single base substitution C T upstream_gene_variant MELA-AU 7 44788915 44788915 single base substitution C T intron_variant MELA-AU 7 44789731 44789731 single base substitution C T intron_variant MELA-AU 7 44790172 44790173 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 44790282 44790282 single base substitution C T intron_variant MELA-AU 7 44790607 44790607 single base substitution A G 5_prime_UTR_variant MELA-AU 7 44790607 44790607 single base substitution A G intron_variant MELA-AU 7 44790629 44790629 single base substitution C T 5_prime_UTR_variant MELA-AU 7 44790629 44790629 single base substitution C T intron_variant MELA-AU 7 44790673 44790673 single base substitution C T 5_prime_UTR_variant MELA-AU 7 44790673 44790673 single base substitution C T intron_variant MELA-AU 7 44790674 44790675 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 7 44790674 44790675 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 44790741 44790741 single base substitution A G intron_variant MELA-AU 7 44791554 44791554 single base substitution C A intron_variant MELA-AU 7 44791554 44791554 single base substitution C A upstream_gene_variant MELA-AU 7 44791554 44791554 single base substitution C T intron_variant MELA-AU 7 44791554 44791554 single base substitution C T upstream_gene_variant MELA-AU 7 44793097 44793098 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 44793097 44793098 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 44793730 44793730 single base substitution C T intron_variant MELA-AU 7 44793730 44793730 single base substitution C T upstream_gene_variant MELA-AU 7 44793995 44793996 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 44793995 44793996 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 44793997 44793997 single base substitution C T intron_variant MELA-AU 7 44793997 44793997 single base substitution C T upstream_gene_variant MELA-AU 7 44795084 44795084 single base substitution C T intron_variant MELA-AU 7 44795084 44795084 single base substitution C T upstream_gene_variant MELA-AU 7 44795086 44795086 single base substitution C T intron_variant MELA-AU 7 44795086 44795086 single base substitution C T upstream_gene_variant MELA-AU 7 44795509 44795509 single base substitution G A intron_variant MELA-AU 7 44795509 44795509 single base substitution G A upstream_gene_variant MELA-AU 7 44795719 44795720 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 44795719 44795720 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 44796031 44796033 deletion of <=200bp TCA - exon_variant MELA-AU 7 44796031 44796033 deletion of <=200bp TCA - inframe_deletion S20 MELA-AU 7 44796031 44796033 deletion of <=200bp TCA - upstream_gene_variant MELA-AU 7 44796038 44796038 single base substitution C T exon_variant MELA-AU 7 44796038 44796038 single base substitution C T missense_variant A22V 65C>T MELA-AU 7 44796038 44796038 single base substitution C T upstream_gene_variant MELA-AU 7 44796363 44796363 single base substitution C T exon_variant MELA-AU 7 44796363 44796363 single base substitution C T intron_variant MELA-AU 7 44796363 44796363 single base substitution C T upstream_gene_variant MELA-AU 7 44797442 44797442 single base substitution C T downstream_gene_variant MELA-AU 7 44797442 44797442 single base substitution C T splice_region_variant MELA-AU 7 44797442 44797442 single base substitution C T upstream_gene_variant MELA-AU 7 44798178 44798178 single base substitution C T downstream_gene_variant MELA-AU 7 44798178 44798178 single base substitution C T intron_variant MELA-AU 7 44798178 44798178 single base substitution C T upstream_gene_variant MELA-AU 7 44798608 44798608 single base substitution G A downstream_gene_variant MELA-AU 7 44798608 44798608 single base substitution G A intron_variant MELA-AU 7 44798608 44798608 single base substitution G A upstream_gene_variant MELA-AU 7 44798787 44798787 single base substitution C T downstream_gene_variant MELA-AU 7 44798787 44798787 single base substitution C T intron_variant MELA-AU 7 44798787 44798787 single base substitution C T upstream_gene_variant MELA-AU 7 44798871 44798871 single base substitution C T downstream_gene_variant MELA-AU 7 44798871 44798871 single base substitution C T intron_variant MELA-AU 7 44798871 44798871 single base substitution C T upstream_gene_variant MELA-AU 7 44798886 44798887 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 44798886 44798887 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P242L 724CC>TT MELA-AU 7 44798886 44798887 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P274L 820CC>TT MELA-AU 7 44798886 44798887 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 44799017 44799017 single base substitution C T downstream_gene_variant MELA-AU 7 44799017 44799017 single base substitution C T synonymous_variant T285T 855C>T MELA-AU 7 44799017 44799017 single base substitution C T synonymous_variant T317T 951C>T MELA-AU 7 44799017 44799017 single base substitution C T upstream_gene_variant MELA-AU 7 44799309 44799309 single base substitution C T downstream_gene_variant MELA-AU 7 44799309 44799309 single base substitution C T intron_variant MELA-AU 7 44799309 44799309 single base substitution C T upstream_gene_variant MELA-AU 7 44799482 44799482 single base substitution C T downstream_gene_variant MELA-AU 7 44799482 44799482 single base substitution C T exon_variant MELA-AU 7 44799482 44799482 single base substitution C T intron_variant MELA-AU 7 44799482 44799482 single base substitution C T upstream_gene_variant MELA-AU 7 44799486 44799486 single base substitution G A downstream_gene_variant MELA-AU 7 44799486 44799486 single base substitution G A exon_variant MELA-AU 7 44799486 44799486 single base substitution G A intron_variant MELA-AU 7 44799486 44799486 single base substitution G A upstream_gene_variant MELA-AU 7 44799589 44799589 single base substitution C T downstream_gene_variant MELA-AU 7 44799589 44799589 single base substitution C T exon_variant MELA-AU 7 44799589 44799589 single base substitution C T intron_variant MELA-AU 7 44799589 44799589 single base substitution C T upstream_gene_variant MELA-AU 7 44799720 44799720 single base substitution C T downstream_gene_variant MELA-AU 7 44799720 44799720 single base substitution C T exon_variant MELA-AU 7 44799720 44799720 single base substitution C T intron_variant MELA-AU 7 44799720 44799720 single base substitution C T upstream_gene_variant MELA-AU 7 44800174 44800174 single base substitution T G downstream_gene_variant MELA-AU 7 44800174 44800174 single base substitution T G exon_variant MELA-AU 7 44800174 44800174 single base substitution T G missense_variant L350V 1048T>G MELA-AU 7 44800174 44800174 single base substitution T G missense_variant L376V 1126T>G MELA-AU 7 44800174 44800174 single base substitution T G missense_variant L382V 1144T>G MELA-AU 7 44800174 44800174 single base substitution T G missense_variant L408V 1222T>G MELA-AU 7 44800174 44800174 single base substitution T G upstream_gene_variant MELA-AU 7 44800670 44800670 single base substitution C T downstream_gene_variant MELA-AU 7 44800670 44800670 single base substitution C T intron_variant MELA-AU 7 44800670 44800670 single base substitution C T upstream_gene_variant MELA-AU 7 44800836 44800836 single base substitution C T downstream_gene_variant MELA-AU 7 44800836 44800836 single base substitution C T intron_variant MELA-AU 7 44800836 44800836 single base substitution C T upstream_gene_variant MELA-AU 7 44800974 44800974 single base substitution G A downstream_gene_variant MELA-AU 7 44800974 44800974 single base substitution G A intron_variant MELA-AU 7 44800974 44800974 single base substitution G A upstream_gene_variant MELA-AU 7 44801082 44801082 single base substitution C T downstream_gene_variant MELA-AU 7 44801082 44801082 single base substitution C T exon_variant MELA-AU 7 44801082 44801082 single base substitution C T synonymous_variant F367F 1101C>T MELA-AU 7 44801082 44801082 single base substitution C T synonymous_variant F393F 1179C>T MELA-AU 7 44801082 44801082 single base substitution C T synonymous_variant F399F 1197C>T MELA-AU 7 44801082 44801082 single base substitution C T synonymous_variant F425F 1275C>T MELA-AU 7 44801082 44801082 single base substitution C T upstream_gene_variant MELA-AU 7 44802403 44802403 single base substitution C T intron_variant MELA-AU 7 44802403 44802403 single base substitution C T upstream_gene_variant MELA-AU 7 44802652 44802654 deletion of <=200bp TCC - intron_variant MELA-AU 7 44802652 44802654 deletion of <=200bp TCC - upstream_gene_variant MELA-AU 7 44802694 44802694 single base substitution C T intron_variant MELA-AU 7 44802694 44802694 single base substitution C T upstream_gene_variant MELA-AU 7 44802755 44802755 single base substitution C T intron_variant MELA-AU 7 44802755 44802755 single base substitution C T upstream_gene_variant MELA-AU 7 44802783 44802783 single base substitution C T intron_variant MELA-AU 7 44802783 44802783 single base substitution C T upstream_gene_variant MELA-AU 7 44803653 44803653 single base substitution C T intron_variant MELA-AU 7 44803653 44803653 single base substitution C T upstream_gene_variant MELA-AU 7 44804522 44804522 single base substitution C T intron_variant MELA-AU 7 44804522 44804522 single base substitution C T upstream_gene_variant MELA-AU 7 44804532 44804532 single base substitution C T splice_region_variant MELA-AU 7 44804532 44804532 single base substitution C T upstream_gene_variant MELA-AU 7 44805009 44805009 single base substitution C T exon_variant MELA-AU 7 44805009 44805009 single base substitution C T synonymous_variant I633I 1899C>T MELA-AU 7 44805009 44805009 single base substitution C T synonymous_variant I659I 1977C>T MELA-AU 7 44805009 44805009 single base substitution C T synonymous_variant I665I 1995C>T MELA-AU 7 44805009 44805009 single base substitution C T synonymous_variant I691I 2073C>T MELA-AU 7 44805009 44805009 single base substitution C T upstream_gene_variant MELA-AU 7 44805235 44805235 single base substitution C T downstream_gene_variant MELA-AU 7 44805235 44805235 single base substitution C T exon_variant MELA-AU 7 44805235 44805235 single base substitution C T intron_variant MELA-AU 7 44805235 44805235 single base substitution C T upstream_gene_variant MELA-AU 7 44805586 44805586 single base substitution C T downstream_gene_variant MELA-AU 7 44805586 44805586 single base substitution C T exon_variant MELA-AU 7 44805586 44805586 single base substitution C T intron_variant MELA-AU 7 44805617 44805617 single base substitution C T downstream_gene_variant MELA-AU 7 44805617 44805617 single base substitution C T exon_variant MELA-AU 7 44805617 44805617 single base substitution C T intron_variant MELA-AU 7 44806175 44806175 single base substitution G A downstream_gene_variant MELA-AU 7 44806175 44806175 single base substitution G A exon_variant MELA-AU 7 44806175 44806175 single base substitution G A synonymous_variant T798T 2394G>A MELA-AU 7 44806175 44806175 single base substitution G A synonymous_variant T824T 2472G>A MELA-AU 7 44806175 44806175 single base substitution G A synonymous_variant T830T 2490G>A MELA-AU 7 44806175 44806175 single base substitution G A synonymous_variant T856T 2568G>A MELA-AU 7 44806246 44806246 single base substitution C T downstream_gene_variant MELA-AU 7 44806246 44806246 single base substitution C T exon_variant MELA-AU 7 44806246 44806246 single base substitution C T missense_variant P822L 2465C>T MELA-AU 7 44806246 44806246 single base substitution C T missense_variant P848L 2543C>T MELA-AU 7 44806246 44806246 single base substitution C T missense_variant P854L 2561C>T MELA-AU 7 44806246 44806246 single base substitution C T missense_variant P880L 2639C>T MELA-AU 7 44806740 44806740 single base substitution C T downstream_gene_variant MELA-AU 7 44806740 44806740 single base substitution C T intron_variant MELA-AU 7 44806895 44806895 single base substitution C T downstream_gene_variant MELA-AU 7 44806895 44806895 single base substitution C T intron_variant MELA-AU 7 44807694 44807694 single base substitution C T 3_prime_UTR_variant MELA-AU 7 44807694 44807694 single base substitution C T downstream_gene_variant MELA-AU 7 44807694 44807694 single base substitution C T exon_variant MELA-AU 7 44808149 44808149 single base substitution C T 3_prime_UTR_variant MELA-AU 7 44808149 44808149 single base substitution C T downstream_gene_variant MELA-AU 7 44808149 44808149 single base substitution C T exon_variant MELA-AU 7 44808477 44808477 single base substitution G A 3_prime_UTR_variant MELA-AU 7 44808477 44808477 single base substitution G A downstream_gene_variant MELA-AU 7 44808552 44808552 single base substitution C A 3_prime_UTR_variant MELA-AU 7 44808552 44808552 single base substitution C A downstream_gene_variant MELA-AU 7 44808770 44808770 single base substitution C T 3_prime_UTR_variant MELA-AU 7 44808770 44808770 single base substitution C T downstream_gene_variant MELA-AU 7 44809903 44809903 single base substitution G A downstream_gene_variant MELA-AU 7 44810257 44810257 single base substitution C T downstream_gene_variant MELA-AU 7 44810530 44810530 single base substitution C T downstream_gene_variant MELA-AU 7 44810571 44810571 single base substitution C T downstream_gene_variant MELA-AU 7 44810751 44810751 single base substitution G A downstream_gene_variant MELA-AU 7 44810872 44810872 single base substitution C T downstream_gene_variant MELA-AU 7 44810875 44810875 single base substitution A G downstream_gene_variant MELA-AU 7 44811076 44811076 single base substitution C T downstream_gene_variant MELA-AU 7 44811104 44811104 single base substitution G A downstream_gene_variant MELA-AU 7 44811131 44811131 single base substitution C T downstream_gene_variant MELA-AU 7 44811249 44811249 single base substitution A G downstream_gene_variant MELA-AU 7 44811595 44811595 single base substitution T A downstream_gene_variant MELA-AU 7 44811599 44811599 single base substitution C T downstream_gene_variant MELA-AU 7 44812096 44812097 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 7 44812354 44812355 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 44812640 44812640 single base substitution C T downstream_gene_variant MELA-AU 7 44813573 44813573 single base substitution G A downstream_gene_variant MELA-AU 7 44813723 44813723 single base substitution C T downstream_gene_variant MELA-AU 7 44813962 44813962 single base substitution C T downstream_gene_variant MELA-AU 7 44814434 44814434 insertion of <=200bp - A downstream_gene_variant ORCA-IN 7 44788952 44788952 single base substitution C T intron_variant ORCA-IN 7 44804179 44804179 single base substitution G A intron_variant ORCA-IN 7 44804179 44804179 single base substitution G A upstream_gene_variant ORCA-IN 7 44804998 44804998 single base substitution G T exon_variant ORCA-IN 7 44804998 44804998 single base substitution G T missense_variant D630Y 1888G>T ORCA-IN 7 44804998 44804998 single base substitution G T missense_variant D656Y 1966G>T ORCA-IN 7 44804998 44804998 single base substitution G T missense_variant D662Y 1984G>T ORCA-IN 7 44804998 44804998 single base substitution G T missense_variant D688Y 2062G>T ORCA-IN 7 44804998 44804998 single base substitution G T upstream_gene_variant OV-AU 7 44789960 44789960 single base substitution G A intron_variant OV-AU 7 44791891 44791891 single base substitution T C intron_variant OV-AU 7 44791891 44791891 single base substitution T C upstream_gene_variant OV-AU 7 44793594 44793594 single base substitution C T intron_variant OV-AU 7 44793594 44793594 single base substitution C T upstream_gene_variant OV-AU 7 44796992 44796992 insertion of <=200bp - G 3_prime_UTR_variant OV-AU 7 44796992 44796992 insertion of <=200bp - G downstream_gene_variant OV-AU 7 44796992 44796992 insertion of <=200bp - G frameshift_variant P128P? OV-AU 7 44796992 44796992 insertion of <=200bp - G frameshift_variant P96P? OV-AU 7 44796992 44796992 insertion of <=200bp - G upstream_gene_variant OV-AU 7 44798634 44798634 single base substitution T G downstream_gene_variant OV-AU 7 44798634 44798634 single base substitution T G intron_variant OV-AU 7 44798634 44798634 single base substitution T G upstream_gene_variant OV-AU 7 44800836 44800836 single base substitution C A downstream_gene_variant OV-AU 7 44800836 44800836 single base substitution C A intron_variant OV-AU 7 44800836 44800836 single base substitution C A upstream_gene_variant OV-AU 7 44801012 44801012 single base substitution G A downstream_gene_variant OV-AU 7 44801012 44801012 single base substitution G A intron_variant OV-AU 7 44801012 44801012 single base substitution G A upstream_gene_variant OV-AU 7 44802440 44802440 single base substitution G T intron_variant OV-AU 7 44802440 44802440 single base substitution G T upstream_gene_variant OV-AU 7 44802780 44802780 single base substitution C T intron_variant OV-AU 7 44802780 44802780 single base substitution C T upstream_gene_variant PACA-AU 7 44784811 44784811 single base substitution G A upstream_gene_variant PACA-AU 7 44788502 44788502 single base substitution C T 5_prime_UTR_variant PACA-AU 7 44788502 44788502 single base substitution C T intron_variant PACA-AU 7 44788502 44788502 single base substitution C T upstream_gene_variant PACA-AU 7 44798294 44798294 single base substitution G A downstream_gene_variant PACA-AU 7 44798294 44798294 single base substitution G A intron_variant PACA-AU 7 44798294 44798294 single base substitution G A upstream_gene_variant PACA-AU 7 44798958 44798958 deletion of <=200bp C - downstream_gene_variant PACA-AU 7 44798958 44798958 deletion of <=200bp C - frameshift_variant P266 PACA-AU 7 44798958 44798958 deletion of <=200bp C - frameshift_variant P298 PACA-AU 7 44798958 44798958 deletion of <=200bp C - upstream_gene_variant PACA-AU 7 44800218 44800218 single base substitution C T downstream_gene_variant PACA-AU 7 44800218 44800218 single base substitution C T intron_variant PACA-AU 7 44800218 44800218 single base substitution C T upstream_gene_variant PACA-AU 7 44800577 44800577 single base substitution G A downstream_gene_variant PACA-AU 7 44800577 44800577 single base substitution G A intron_variant PACA-AU 7 44800577 44800577 single base substitution G A upstream_gene_variant PACA-AU 7 44800578 44800578 single base substitution C T downstream_gene_variant PACA-AU 7 44800578 44800578 single base substitution C T intron_variant PACA-AU 7 44800578 44800578 single base substitution C T upstream_gene_variant PACA-AU 7 44801423 44801423 single base substitution C T downstream_gene_variant PACA-AU 7 44801423 44801423 single base substitution C T exon_variant PACA-AU 7 44801423 44801423 single base substitution C T synonymous_variant T447T 1341C>T PACA-AU 7 44801423 44801423 single base substitution C T synonymous_variant T473T 1419C>T PACA-AU 7 44801423 44801423 single base substitution C T synonymous_variant T479T 1437C>T PACA-AU 7 44801423 44801423 single base substitution C T synonymous_variant T505T 1515C>T PACA-AU 7 44801423 44801423 single base substitution C T upstream_gene_variant PACA-AU 7 44807246 44807246 single base substitution C T 3_prime_UTR_variant PACA-AU 7 44807246 44807246 single base substitution C T downstream_gene_variant PACA-AU 7 44807246 44807246 single base substitution C T exon_variant PACA-AU 7 44810073 44810073 insertion of <=200bp - TTTA downstream_gene_variant PACA-CA 7 44785760 44785760 single base substitution C A upstream_gene_variant PACA-CA 7 44785827 44785827 single base substitution T G upstream_gene_variant PACA-CA 7 44785979 44785979 single base substitution C T upstream_gene_variant PACA-CA 7 44790480 44790480 single base substitution G T intron_variant PACA-CA 7 44794081 44794081 single base substitution G A intron_variant PACA-CA 7 44794081 44794081 single base substitution G A upstream_gene_variant PACA-CA 7 44796078 44796078 single base substitution G A exon_variant PACA-CA 7 44796078 44796078 single base substitution G A synonymous_variant P35P 105G>A PACA-CA 7 44796078 44796078 single base substitution G A upstream_gene_variant PACA-CA 7 44798600 44798600 single base substitution G T downstream_gene_variant PACA-CA 7 44798600 44798600 single base substitution G T intron_variant PACA-CA 7 44798600 44798600 single base substitution G T upstream_gene_variant PACA-CA 7 44798788 44798788 single base substitution C T downstream_gene_variant PACA-CA 7 44798788 44798788 single base substitution C T intron_variant PACA-CA 7 44798788 44798788 single base substitution C T upstream_gene_variant PACA-CA 7 44799702 44799708 deletion of <=200bp CAGGGGT - downstream_gene_variant PACA-CA 7 44799702 44799708 deletion of <=200bp CAGGGGT - exon_variant PACA-CA 7 44799702 44799708 deletion of <=200bp CAGGGGT - intron_variant PACA-CA 7 44799702 44799708 deletion of <=200bp CAGGGGT - upstream_gene_variant PACA-CA 7 44801670 44801670 single base substitution A G downstream_gene_variant PACA-CA 7 44801670 44801670 single base substitution A G intron_variant PACA-CA 7 44801670 44801670 single base substitution A G upstream_gene_variant PACA-CA 7 44805357 44805357 single base substitution C A downstream_gene_variant PACA-CA 7 44805357 44805357 single base substitution C A exon_variant PACA-CA 7 44805357 44805357 single base substitution C A intron_variant PACA-CA 7 44805956 44805956 single base substitution A G downstream_gene_variant PACA-CA 7 44805956 44805956 single base substitution A G intron_variant PACA-CA 7 44810520 44810520 single base substitution G A downstream_gene_variant PACA-CA 7 44813122 44813122 insertion of <=200bp - A downstream_gene_variant PAEN-AU 7 44787204 44787204 single base substitution A G upstream_gene_variant PAEN-AU 7 44803001 44803001 single base substitution C T exon_variant PAEN-AU 7 44803001 44803001 single base substitution C T missense_variant R559C 1675C>T PAEN-AU 7 44803001 44803001 single base substitution C T missense_variant R585C 1753C>T PAEN-AU 7 44803001 44803001 single base substitution C T missense_variant R591C 1771C>T PAEN-AU 7 44803001 44803001 single base substitution C T missense_variant R617C 1849C>T PAEN-AU 7 44803001 44803001 single base substitution C T upstream_gene_variant PAEN-AU 7 44814141 44814141 single base substitution C A downstream_gene_variant PBCA-DE 7 44787130 44787130 single base substitution C T upstream_gene_variant PBCA-DE 7 44789331 44789331 single base substitution T G intron_variant PBCA-DE 7 44805145 44805145 single base substitution T C downstream_gene_variant PBCA-DE 7 44805145 44805145 single base substitution T C exon_variant PBCA-DE 7 44805145 44805145 single base substitution T C missense_variant S679P 2035T>C PBCA-DE 7 44805145 44805145 single base substitution T C missense_variant S705P 2113T>C PBCA-DE 7 44805145 44805145 single base substitution T C missense_variant S711P 2131T>C PBCA-DE 7 44805145 44805145 single base substitution T C missense_variant S737P 2209T>C PBCA-DE 7 44805145 44805145 single base substitution T C upstream_gene_variant PRAD-CA 7 44785721 44785721 single base substitution G A upstream_gene_variant PRAD-CA 7 44787241 44787241 single base substitution A G upstream_gene_variant PRAD-CA 7 44795275 44795275 single base substitution C T intron_variant PRAD-CA 7 44795275 44795275 single base substitution C T upstream_gene_variant PRAD-CA 7 44801393 44801393 single base substitution G A downstream_gene_variant PRAD-CA 7 44801393 44801393 single base substitution G A exon_variant PRAD-CA 7 44801393 44801393 single base substitution G A synonymous_variant P437P 1311G>A PRAD-CA 7 44801393 44801393 single base substitution G A synonymous_variant P463P 1389G>A PRAD-CA 7 44801393 44801393 single base substitution G A synonymous_variant P469P 1407G>A PRAD-CA 7 44801393 44801393 single base substitution G A synonymous_variant P495P 1485G>A PRAD-CA 7 44801393 44801393 single base substitution G A upstream_gene_variant PRAD-CA 7 44812462 44812462 single base substitution A T downstream_gene_variant PRAD-UK 7 44787984 44787984 insertion of <=200bp - CGGGCGGGGCG upstream_gene_variant PRAD-UK 7 44788054 44788054 single base substitution C T upstream_gene_variant PRAD-UK 7 44792177 44792177 single base substitution G T intron_variant PRAD-UK 7 44792177 44792177 single base substitution G T upstream_gene_variant PRAD-UK 7 44797633 44797633 single base substitution C A downstream_gene_variant PRAD-UK 7 44797633 44797633 single base substitution C A missense_variant P215T 643C>A PRAD-UK 7 44797633 44797633 single base substitution C A missense_variant P247T 739C>A PRAD-UK 7 44797633 44797633 single base substitution C A upstream_gene_variant READ-US 7 44797516 44797516 single base substitution G A downstream_gene_variant READ-US 7 44797516 44797516 single base substitution G A missense_variant A176T 526G>A READ-US 7 44797516 44797516 single base substitution G A missense_variant A208T 622G>A READ-US 7 44797516 44797516 single base substitution G A upstream_gene_variant RECA-EU 7 44785079 44785079 single base substitution G A upstream_gene_variant RECA-EU 7 44787203 44787203 single base substitution A G upstream_gene_variant RECA-EU 7 44800206 44800206 single base substitution C G downstream_gene_variant RECA-EU 7 44800206 44800206 single base substitution C G intron_variant RECA-EU 7 44800206 44800206 single base substitution C G upstream_gene_variant SKCA-BR 7 44785552 44785552 single base substitution C T upstream_gene_variant SKCA-BR 7 44785554 44785554 single base substitution C A upstream_gene_variant SKCA-BR 7 44785738 44785738 single base substitution G A upstream_gene_variant SKCA-BR 7 44787208 44787208 single base substitution A G upstream_gene_variant SKCA-BR 7 44787241 44787241 single base substitution A G upstream_gene_variant SKCA-BR 7 44787992 44787992 single base substitution A G upstream_gene_variant SKCA-BR 7 44788082 44788082 single base substitution C T upstream_gene_variant SKCA-BR 7 44788086 44788086 single base substitution A C upstream_gene_variant SKCA-BR 7 44793423 44793423 single base substitution C T intron_variant SKCA-BR 7 44793423 44793423 single base substitution C T upstream_gene_variant SKCA-BR 7 44794010 44794010 single base substitution G A intron_variant SKCA-BR 7 44794010 44794010 single base substitution G A upstream_gene_variant SKCA-BR 7 44795017 44795017 single base substitution C T intron_variant SKCA-BR 7 44795017 44795017 single base substitution C T upstream_gene_variant SKCA-BR 7 44796892 44796892 single base substitution T C downstream_gene_variant SKCA-BR 7 44796892 44796892 single base substitution T C intron_variant SKCA-BR 7 44796892 44796892 single base substitution T C upstream_gene_variant SKCA-BR 7 44801106 44801106 single base substitution G C downstream_gene_variant SKCA-BR 7 44801106 44801106 single base substitution G C exon_variant SKCA-BR 7 44801106 44801106 single base substitution G C synonymous_variant L375L 1125G>C SKCA-BR 7 44801106 44801106 single base substitution G C synonymous_variant L401L 1203G>C SKCA-BR 7 44801106 44801106 single base substitution G C synonymous_variant L407L 1221G>C SKCA-BR 7 44801106 44801106 single base substitution G C synonymous_variant L433L 1299G>C SKCA-BR 7 44801106 44801106 single base substitution G C upstream_gene_variant SKCA-BR 7 44801594 44801594 single base substitution T G downstream_gene_variant SKCA-BR 7 44801594 44801594 single base substitution T G intron_variant SKCA-BR 7 44801594 44801594 single base substitution T G upstream_gene_variant SKCA-BR 7 44804366 44804366 single base substitution C T intron_variant SKCA-BR 7 44804366 44804366 single base substitution C T upstream_gene_variant SKCA-BR 7 44805470 44805470 single base substitution C T downstream_gene_variant SKCA-BR 7 44805470 44805470 single base substitution C T exon_variant SKCA-BR 7 44805470 44805470 single base substitution C T intron_variant SKCA-BR 7 44805881 44805881 single base substitution T C downstream_gene_variant SKCA-BR 7 44805881 44805881 single base substitution T C exon_variant SKCA-BR 7 44805881 44805881 single base substitution T C synonymous_variant I729I 2187T>C SKCA-BR 7 44805881 44805881 single base substitution T C synonymous_variant I755I 2265T>C SKCA-BR 7 44805881 44805881 single base substitution T C synonymous_variant I761I 2283T>C SKCA-BR 7 44805881 44805881 single base substitution T C synonymous_variant I787I 2361T>C SKCA-BR 7 44806741 44806741 single base substitution C T downstream_gene_variant SKCA-BR 7 44806741 44806741 single base substitution C T intron_variant SKCA-BR 7 44807789 44807789 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 44807789 44807789 single base substitution C T downstream_gene_variant SKCA-BR 7 44807789 44807789 single base substitution C T exon_variant SKCA-BR 7 44808550 44808550 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 44808550 44808550 single base substitution C T downstream_gene_variant SKCA-BR 7 44811380 44811380 single base substitution C T downstream_gene_variant SKCA-BR 7 44812329 44812329 single base substitution A G downstream_gene_variant SKCM-US 7 44795866 44795866 single base substitution C T exon_variant SKCM-US 7 44795866 44795866 single base substitution C T synonymous_variant P6P 18C>T SKCM-US 7 44795866 44795866 single base substitution C T upstream_gene_variant SKCM-US 7 44795885 44795885 single base substitution C T exon_variant SKCM-US 7 44795885 44795885 single base substitution C T missense_variant P13S 37C>T SKCM-US 7 44795885 44795885 single base substitution C T upstream_gene_variant SKCM-US 7 44796724 44796724 single base substitution C T 3_prime_UTR_variant SKCM-US 7 44796724 44796724 single base substitution C T downstream_gene_variant SKCM-US 7 44796724 44796724 single base substitution C T missense_variant P115L 344C>T SKCM-US 7 44796724 44796724 single base substitution C T missense_variant P83L 248C>T SKCM-US 7 44796724 44796724 single base substitution C T upstream_gene_variant SKCM-US 7 44797515 44797515 single base substitution C G downstream_gene_variant SKCM-US 7 44797515 44797515 single base substitution C G synonymous_variant P175P 525C>G SKCM-US 7 44797515 44797515 single base substitution C G synonymous_variant P207P 621C>G SKCM-US 7 44797515 44797515 single base substitution C G upstream_gene_variant SKCM-US 7 44797655 44797655 single base substitution C T downstream_gene_variant SKCM-US 7 44797655 44797655 single base substitution C T missense_variant P222L 665C>T SKCM-US 7 44797655 44797655 single base substitution C T missense_variant P254L 761C>T SKCM-US 7 44797655 44797655 single base substitution C T upstream_gene_variant SKCM-US 7 44798879 44798879 single base substitution G A downstream_gene_variant SKCM-US 7 44798879 44798879 single base substitution G A splice_acceptor_variant SKCM-US 7 44798879 44798879 single base substitution G A upstream_gene_variant SKCM-US 7 44798934 44798934 single base substitution C A downstream_gene_variant SKCM-US 7 44798934 44798934 single base substitution C A missense_variant Q258K 772C>A SKCM-US 7 44798934 44798934 single base substitution C A missense_variant Q290K 868C>A SKCM-US 7 44798934 44798934 single base substitution C A upstream_gene_variant SKCM-US 7 44798971 44798971 single base substitution C T downstream_gene_variant SKCM-US 7 44798971 44798971 single base substitution C T missense_variant S270F 809C>T SKCM-US 7 44798971 44798971 single base substitution C T missense_variant S302F 905C>T SKCM-US 7 44798971 44798971 single base substitution C T upstream_gene_variant SKCM-US 7 44798973 44798973 single base substitution C T downstream_gene_variant SKCM-US 7 44798973 44798973 single base substitution C T missense_variant P271S 811C>T SKCM-US 7 44798973 44798973 single base substitution C T missense_variant P303S 907C>T SKCM-US 7 44798973 44798973 single base substitution C T upstream_gene_variant SKCM-US 7 44798977 44798977 single base substitution C T downstream_gene_variant SKCM-US 7 44798977 44798977 single base substitution C T missense_variant S272F 815C>T SKCM-US 7 44798977 44798977 single base substitution C T missense_variant S304F 911C>T SKCM-US 7 44798977 44798977 single base substitution C T upstream_gene_variant SKCM-US 7 44799042 44799042 single base substitution A G downstream_gene_variant SKCM-US 7 44799042 44799042 single base substitution A G missense_variant T294A 880A>G SKCM-US 7 44799042 44799042 single base substitution A G missense_variant T326A 976A>G SKCM-US 7 44799042 44799042 single base substitution A G upstream_gene_variant SKCM-US 7 44800029 44800029 single base substitution C T downstream_gene_variant SKCM-US 7 44800029 44800029 single base substitution C T exon_variant SKCM-US 7 44800029 44800029 single base substitution C T synonymous_variant T301T 903C>T SKCM-US 7 44800029 44800029 single base substitution C T synonymous_variant T327T 981C>T SKCM-US 7 44800029 44800029 single base substitution C T synonymous_variant T333T 999C>T SKCM-US 7 44800029 44800029 single base substitution C T synonymous_variant T359T 1077C>T SKCM-US 7 44800029 44800029 single base substitution C T upstream_gene_variant SKCM-US 7 44801181 44801181 single base substitution C T downstream_gene_variant SKCM-US 7 44801181 44801181 single base substitution C T exon_variant SKCM-US 7 44801181 44801181 single base substitution C T synonymous_variant T400T 1200C>T SKCM-US 7 44801181 44801181 single base substitution C T synonymous_variant T426T 1278C>T SKCM-US 7 44801181 44801181 single base substitution C T synonymous_variant T432T 1296C>T SKCM-US 7 44801181 44801181 single base substitution C T synonymous_variant T458T 1374C>T SKCM-US 7 44801181 44801181 single base substitution C T upstream_gene_variant SKCM-US 7 44801501 44801501 single base substitution C T downstream_gene_variant SKCM-US 7 44801501 44801501 single base substitution C T exon_variant SKCM-US 7 44801501 44801501 single base substitution C T synonymous_variant C473C 1419C>T SKCM-US 7 44801501 44801501 single base substitution C T synonymous_variant C499C 1497C>T SKCM-US 7 44801501 44801501 single base substitution C T synonymous_variant C505C 1515C>T SKCM-US 7 44801501 44801501 single base substitution C T synonymous_variant C531C 1593C>T SKCM-US 7 44801501 44801501 single base substitution C T upstream_gene_variant SKCM-US 7 44804027 44804027 single base substitution C T exon_variant SKCM-US 7 44804027 44804027 single base substitution C T synonymous_variant L566L 1696C>T SKCM-US 7 44804027 44804027 single base substitution C T synonymous_variant L592L 1774C>T SKCM-US 7 44804027 44804027 single base substitution C T synonymous_variant L598L 1792C>T SKCM-US 7 44804027 44804027 single base substitution C T synonymous_variant L624L 1870C>T SKCM-US 7 44804027 44804027 single base substitution C T upstream_gene_variant SKCM-US 7 44804987 44804987 single base substitution C T exon_variant SKCM-US 7 44804987 44804987 single base substitution C T missense_variant P626L 1877C>T SKCM-US 7 44804987 44804987 single base substitution C T missense_variant P652L 1955C>T SKCM-US 7 44804987 44804987 single base substitution C T missense_variant P658L 1973C>T SKCM-US 7 44804987 44804987 single base substitution C T missense_variant P684L 2051C>T SKCM-US 7 44804987 44804987 single base substitution C T upstream_gene_variant SKCM-US 7 44805124 44805124 single base substitution T C downstream_gene_variant SKCM-US 7 44805124 44805124 single base substitution T C exon_variant SKCM-US 7 44805124 44805124 single base substitution T C missense_variant F672L 2014T>C SKCM-US 7 44805124 44805124 single base substitution T C missense_variant F698L 2092T>C SKCM-US 7 44805124 44805124 single base substitution T C missense_variant F704L 2110T>C SKCM-US 7 44805124 44805124 single base substitution T C missense_variant F730L 2188T>C SKCM-US 7 44805124 44805124 single base substitution T C upstream_gene_variant SKCM-US 7 44805143 44805143 single base substitution C T downstream_gene_variant SKCM-US 7 44805143 44805143 single base substitution C T exon_variant SKCM-US 7 44805143 44805143 single base substitution C T missense_variant P678L 2033C>T SKCM-US 7 44805143 44805143 single base substitution C T missense_variant P704L 2111C>T SKCM-US 7 44805143 44805143 single base substitution C T missense_variant P710L 2129C>T SKCM-US 7 44805143 44805143 single base substitution C T missense_variant P736L 2207C>T SKCM-US 7 44805143 44805143 single base substitution C T upstream_gene_variant SKCM-US 7 44805791 44805791 single base substitution C T downstream_gene_variant SKCM-US 7 44805791 44805791 single base substitution C T exon_variant SKCM-US 7 44805791 44805791 single base substitution C T synonymous_variant F699F 2097C>T SKCM-US 7 44805791 44805791 single base substitution C T synonymous_variant F725F 2175C>T SKCM-US 7 44805791 44805791 single base substitution C T synonymous_variant F731F 2193C>T SKCM-US 7 44805791 44805791 single base substitution C T synonymous_variant F757F 2271C>T SKCM-US 7 44805812 44805812 single base substitution C T downstream_gene_variant SKCM-US 7 44805812 44805812 single base substitution C T exon_variant SKCM-US 7 44805812 44805812 single base substitution C T synonymous_variant T706T 2118C>T SKCM-US 7 44805812 44805812 single base substitution C T synonymous_variant T732T 2196C>T SKCM-US 7 44805812 44805812 single base substitution C T synonymous_variant T738T 2214C>T SKCM-US 7 44805812 44805812 single base substitution C T synonymous_variant T764T 2292C>T SKCM-US 7 44805830 44805830 single base substitution C T downstream_gene_variant SKCM-US 7 44805830 44805830 single base substitution C T exon_variant SKCM-US 7 44805830 44805830 single base substitution C T synonymous_variant T712T 2136C>T SKCM-US 7 44805830 44805830 single base substitution C T synonymous_variant T738T 2214C>T SKCM-US 7 44805830 44805830 single base substitution C T synonymous_variant T744T 2232C>T SKCM-US 7 44805830 44805830 single base substitution C T synonymous_variant T770T 2310C>T SKCM-US 7 44805845 44805845 single base substitution C T downstream_gene_variant SKCM-US 7 44805845 44805845 single base substitution C T exon_variant SKCM-US 7 44805845 44805845 single base substitution C T synonymous_variant T717T 2151C>T SKCM-US 7 44805845 44805845 single base substitution C T synonymous_variant T743T 2229C>T SKCM-US 7 44805845 44805845 single base substitution C T synonymous_variant T749T 2247C>T SKCM-US 7 44805845 44805845 single base substitution C T synonymous_variant T775T 2325C>T SKCM-US 7 44805846 44805846 single base substitution C T downstream_gene_variant SKCM-US 7 44805846 44805846 single base substitution C T exon_variant SKCM-US 7 44805846 44805846 single base substitution C T missense_variant P718S 2152C>T SKCM-US 7 44805846 44805846 single base substitution C T missense_variant P744S 2230C>T SKCM-US 7 44805846 44805846 single base substitution C T missense_variant P750S 2248C>T SKCM-US 7 44805846 44805846 single base substitution C T missense_variant P776S 2326C>T SKCM-US 7 44806095 44806095 single base substitution C T downstream_gene_variant SKCM-US 7 44806095 44806095 single base substitution C T exon_variant SKCM-US 7 44806095 44806095 single base substitution C T missense_variant P772S 2314C>T SKCM-US 7 44806095 44806095 single base substitution C T missense_variant P798S 2392C>T SKCM-US 7 44806095 44806095 single base substitution C T missense_variant P804S 2410C>T SKCM-US 7 44806095 44806095 single base substitution C T missense_variant P830S 2488C>T SKCM-US 7 44806154 44806154 single base substitution C T downstream_gene_variant SKCM-US 7 44806154 44806154 single base substitution C T exon_variant SKCM-US 7 44806154 44806154 single base substitution C T synonymous_variant G791G 2373C>T SKCM-US 7 44806154 44806154 single base substitution C T synonymous_variant G817G 2451C>T SKCM-US 7 44806154 44806154 single base substitution C T synonymous_variant G823G 2469C>T SKCM-US 7 44806154 44806154 single base substitution C T synonymous_variant G849G 2547C>T SKCM-US 7 44806175 44806175 single base substitution G A downstream_gene_variant SKCM-US 7 44806175 44806175 single base substitution G A exon_variant SKCM-US 7 44806175 44806175 single base substitution G A synonymous_variant T798T 2394G>A SKCM-US 7 44806175 44806175 single base substitution G A synonymous_variant T824T 2472G>A SKCM-US 7 44806175 44806175 single base substitution G A synonymous_variant T830T 2490G>A SKCM-US 7 44806175 44806175 single base substitution G A synonymous_variant T856T 2568G>A STAD-US 7 44796067 44796067 single base substitution G A exon_variant STAD-US 7 44796067 44796067 single base substitution G A missense_variant A32T 94G>A STAD-US 7 44796067 44796067 single base substitution G A upstream_gene_variant STAD-US 7 44796612 44796612 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 7 44796612 44796612 deletion of <=200bp G - downstream_gene_variant STAD-US 7 44796612 44796612 deletion of <=200bp G - frameshift_variant G78 STAD-US 7 44796612 44796612 deletion of <=200bp G - intron_variant STAD-US 7 44796612 44796612 deletion of <=200bp G - upstream_gene_variant STAD-US 7 44797586 44797586 single base substitution C G downstream_gene_variant STAD-US 7 44797586 44797586 single base substitution C G missense_variant P199R 596C>G STAD-US 7 44797586 44797586 single base substitution C G missense_variant P231R 692C>G STAD-US 7 44797586 44797586 single base substitution C G upstream_gene_variant STAD-US 7 44799789 44799789 deletion of <=200bp G - downstream_gene_variant STAD-US 7 44799789 44799789 deletion of <=200bp G - exon_variant STAD-US 7 44799789 44799789 deletion of <=200bp G - frameshift_variant G313 STAD-US 7 44799789 44799789 deletion of <=200bp G - frameshift_variant G345 STAD-US 7 44799789 44799789 deletion of <=200bp G - intron_variant STAD-US 7 44799789 44799789 deletion of <=200bp G - upstream_gene_variant STAD-US 7 44800124 44800124 single base substitution A G downstream_gene_variant STAD-US 7 44800124 44800124 single base substitution A G exon_variant STAD-US 7 44800124 44800124 single base substitution A G missense_variant Q333R 998A>G STAD-US 7 44800124 44800124 single base substitution A G missense_variant Q359R 1076A>G STAD-US 7 44800124 44800124 single base substitution A G missense_variant Q365R 1094A>G STAD-US 7 44800124 44800124 single base substitution A G missense_variant Q391R 1172A>G STAD-US 7 44800124 44800124 single base substitution A G upstream_gene_variant STAD-US 7 44801066 44801066 single base substitution A G downstream_gene_variant STAD-US 7 44801066 44801066 single base substitution A G exon_variant STAD-US 7 44801066 44801066 single base substitution A G missense_variant E362G 1085A>G STAD-US 7 44801066 44801066 single base substitution A G missense_variant E388G 1163A>G STAD-US 7 44801066 44801066 single base substitution A G missense_variant E394G 1181A>G STAD-US 7 44801066 44801066 single base substitution A G missense_variant E420G 1259A>G STAD-US 7 44801066 44801066 single base substitution A G upstream_gene_variant STAD-US 7 44801116 44801116 single base substitution C T downstream_gene_variant STAD-US 7 44801116 44801116 single base substitution C T exon_variant STAD-US 7 44801116 44801116 single base substitution C T missense_variant R379C 1135C>T STAD-US 7 44801116 44801116 single base substitution C T missense_variant R405C 1213C>T STAD-US 7 44801116 44801116 single base substitution C T missense_variant R411C 1231C>T STAD-US 7 44801116 44801116 single base substitution C T missense_variant R437C 1309C>T STAD-US 7 44801116 44801116 single base substitution C T upstream_gene_variant STAD-US 7 44801438 44801438 single base substitution C G downstream_gene_variant STAD-US 7 44801438 44801438 single base substitution C G exon_variant STAD-US 7 44801438 44801438 single base substitution C G synonymous_variant L452L 1356C>G STAD-US 7 44801438 44801438 single base substitution C G synonymous_variant L478L 1434C>G STAD-US 7 44801438 44801438 single base substitution C G synonymous_variant L484L 1452C>G STAD-US 7 44801438 44801438 single base substitution C G synonymous_variant L510L 1530C>G STAD-US 7 44801438 44801438 single base substitution C G upstream_gene_variant STAD-US 7 44802571 44802571 single base substitution A T exon_variant STAD-US 7 44802571 44802571 single base substitution A T missense_variant H505L 1514A>T STAD-US 7 44802571 44802571 single base substitution A T missense_variant H531L 1592A>T STAD-US 7 44802571 44802571 single base substitution A T missense_variant H537L 1610A>T STAD-US 7 44802571 44802571 single base substitution A T missense_variant H563L 1688A>T STAD-US 7 44802571 44802571 single base substitution A T upstream_gene_variant STAD-US 7 44802877 44802877 single base substitution C T exon_variant STAD-US 7 44802877 44802877 single base substitution C T synonymous_variant G517G 1551C>T STAD-US 7 44802877 44802877 single base substitution C T synonymous_variant G543G 1629C>T STAD-US 7 44802877 44802877 single base substitution C T synonymous_variant G549G 1647C>T STAD-US 7 44802877 44802877 single base substitution C T synonymous_variant G575G 1725C>T STAD-US 7 44802877 44802877 single base substitution C T upstream_gene_variant STAD-US 7 44804020 44804020 single base substitution C T splice_region_variant STAD-US 7 44804020 44804020 single base substitution C T upstream_gene_variant STAD-US 7 44804082 44804082 single base substitution G A exon_variant STAD-US 7 44804082 44804082 single base substitution G A missense_variant C584Y 1751G>A STAD-US 7 44804082 44804082 single base substitution G A missense_variant C610Y 1829G>A STAD-US 7 44804082 44804082 single base substitution G A missense_variant C616Y 1847G>A STAD-US 7 44804082 44804082 single base substitution G A missense_variant C642Y 1925G>A STAD-US 7 44804082 44804082 single base substitution G A upstream_gene_variant STAD-US 7 44805082 44805082 single base substitution G A exon_variant STAD-US 7 44805082 44805082 single base substitution G A missense_variant V658M 1972G>A STAD-US 7 44805082 44805082 single base substitution G A missense_variant V684M 2050G>A STAD-US 7 44805082 44805082 single base substitution G A missense_variant V690M 2068G>A STAD-US 7 44805082 44805082 single base substitution G A missense_variant V716M 2146G>A STAD-US 7 44805082 44805082 single base substitution G A upstream_gene_variant STAD-US 7 44805866 44805866 single base substitution C A downstream_gene_variant STAD-US 7 44805866 44805866 single base substitution C A exon_variant STAD-US 7 44805866 44805866 single base substitution C A synonymous_variant S724S 2172C>A STAD-US 7 44805866 44805866 single base substitution C A synonymous_variant S750S 2250C>A STAD-US 7 44805866 44805866 single base substitution C A synonymous_variant S756S 2268C>A STAD-US 7 44805866 44805866 single base substitution C A synonymous_variant S782S 2346C>A STAD-US 7 44806205 44806205 single base substitution C T downstream_gene_variant STAD-US 7 44806205 44806205 single base substitution C T exon_variant STAD-US 7 44806205 44806205 single base substitution C T synonymous_variant G808G 2424C>T STAD-US 7 44806205 44806205 single base substitution C T synonymous_variant G834G 2502C>T STAD-US 7 44806205 44806205 single base substitution C T synonymous_variant G840G 2520C>T STAD-US 7 44806205 44806205 single base substitution C T synonymous_variant G866G 2598C>T STAD-US 7 44806211 44806211 deletion of <=200bp G - downstream_gene_variant STAD-US 7 44806211 44806211 deletion of <=200bp G - exon_variant STAD-US 7 44806211 44806211 deletion of <=200bp G - frameshift_variant M810 STAD-US 7 44806211 44806211 deletion of <=200bp G - frameshift_variant M836 STAD-US 7 44806211 44806211 deletion of <=200bp G - frameshift_variant M842 STAD-US 7 44806211 44806211 deletion of <=200bp G - frameshift_variant M868 STAD-US 7 44806214 44806214 single base substitution G C downstream_gene_variant STAD-US 7 44806214 44806214 single base substitution G C exon_variant STAD-US 7 44806214 44806214 single base substitution G C synonymous_variant G811G 2433G>C STAD-US 7 44806214 44806214 single base substitution G C synonymous_variant G837G 2511G>C STAD-US 7 44806214 44806214 single base substitution G C synonymous_variant G843G 2529G>C STAD-US 7 44806214 44806214 single base substitution G C synonymous_variant G869G 2607G>C STAD-US 7 44806229 44806229 single base substitution T C downstream_gene_variant STAD-US 7 44806229 44806229 single base substitution T C exon_variant STAD-US 7 44806229 44806229 single base substitution T C synonymous_variant S816S 2448T>C STAD-US 7 44806229 44806229 single base substitution T C synonymous_variant S842S 2526T>C STAD-US 7 44806229 44806229 single base substitution T C synonymous_variant S848S 2544T>C STAD-US 7 44806229 44806229 single base substitution T C synonymous_variant S874S 2622T>C THCA-SA 7 44800176 44800176 single base substitution G T downstream_gene_variant THCA-SA 7 44800176 44800176 single base substitution G T exon_variant THCA-SA 7 44800176 44800176 single base substitution G T missense_variant L350F 1050G>T THCA-SA 7 44800176 44800176 single base substitution G T missense_variant L376F 1128G>T THCA-SA 7 44800176 44800176 single base substitution G T missense_variant L382F 1146G>T THCA-SA 7 44800176 44800176 single base substitution G T missense_variant L408F 1224G>T THCA-SA 7 44800176 44800176 single base substitution G T upstream_gene_variant THCA-US 7 44797683 44797683 single base substitution G C downstream_gene_variant THCA-US 7 44797683 44797683 single base substitution G C missense_variant Q231H 693G>C THCA-US 7 44797683 44797683 single base substitution G C missense_variant Q263H 789G>C THCA-US 7 44797683 44797683 single base substitution G C upstream_gene_variant THCA-US 7 44801338 44801338 single base substitution G A downstream_gene_variant THCA-US 7 44801338 44801338 single base substitution G A exon_variant THCA-US 7 44801338 44801338 single base substitution G A missense_variant R419Q 1256G>A THCA-US 7 44801338 44801338 single base substitution G A missense_variant R445Q 1334G>A THCA-US 7 44801338 44801338 single base substitution G A missense_variant R451Q 1352G>A THCA-US 7 44801338 44801338 single base substitution G A missense_variant R477Q 1430G>A THCA-US 7 44801338 44801338 single base substitution G A upstream_gene_variant THCA-US 7 44805072 44805072 single base substitution C G exon_variant THCA-US 7 44805072 44805072 single base substitution C G synonymous_variant L654L 1962C>G THCA-US 7 44805072 44805072 single base substitution C G synonymous_variant L680L 2040C>G THCA-US 7 44805072 44805072 single base substitution C G synonymous_variant L686L 2058C>G THCA-US 7 44805072 44805072 single base substitution C G synonymous_variant L712L 2136C>G THCA-US 7 44805072 44805072 single base substitution C G upstream_gene_variant UCEC-US 7 44798891 44798891 single base substitution G A downstream_gene_variant UCEC-US 7 44798891 44798891 single base substitution G A synonymous_variant G243G 729G>A UCEC-US 7 44798891 44798891 single base substitution G A synonymous_variant G275G 825G>A UCEC-US 7 44798891 44798891 single base substitution G A upstream_gene_variant UCEC-US 7 44798936 44798936 single base substitution G T downstream_gene_variant UCEC-US 7 44798936 44798936 single base substitution G T missense_variant Q258H 774G>T UCEC-US 7 44798936 44798936 single base substitution G T missense_variant Q290H 870G>T UCEC-US 7 44798936 44798936 single base substitution G T upstream_gene_variant UCEC-US 7 44802492 44802492 single base substitution G A exon_variant UCEC-US 7 44802492 44802492 single base substitution G A missense_variant V479M 1435G>A UCEC-US 7 44802492 44802492 single base substitution G A missense_variant V505M 1513G>A UCEC-US 7 44802492 44802492 single base substitution G A missense_variant V511M 1531G>A UCEC-US 7 44802492 44802492 single base substitution G A missense_variant V537M 1609G>A UCEC-US 7 44802492 44802492 single base substitution G A upstream_gene_variant UCEC-US 7 44802587 44802587 single base substitution T C splice_donor_variant UCEC-US 7 44802587 44802587 single base substitution T C upstream_gene_variant UCEC-US 7 44802856 44802856 single base substitution A C splice_region_variant UCEC-US 7 44802856 44802856 single base substitution A C upstream_gene_variant UCEC-US 7 44802913 44802913 single base substitution C T exon_variant UCEC-US 7 44802913 44802913 single base substitution C T synonymous_variant D529D 1587C>T UCEC-US 7 44802913 44802913 single base substitution C T synonymous_variant D555D 1665C>T UCEC-US 7 44802913 44802913 single base substitution C T synonymous_variant D561D 1683C>T UCEC-US 7 44802913 44802913 single base substitution C T synonymous_variant D587D 1761C>T UCEC-US 7 44802913 44802913 single base substitution C T upstream_gene_variant UCEC-US 7 44804019 44804019 single base substitution G A missense_variant C563Y 1688G>A UCEC-US 7 44804019 44804019 single base substitution G A missense_variant C589Y 1766G>A UCEC-US 7 44804019 44804019 single base substitution G A missense_variant C595Y 1784G>A UCEC-US 7 44804019 44804019 single base substitution G A missense_variant C621Y 1862G>A UCEC-US 7 44804019 44804019 single base substitution G A splice_region_variant UCEC-US 7 44804019 44804019 single base substitution G A upstream_gene_variant UCEC-US 7 44805066 44805066 single base substitution C T exon_variant UCEC-US 7 44805066 44805066 single base substitution C T synonymous_variant H652H 1956C>T UCEC-US 7 44805066 44805066 single base substitution C T synonymous_variant H678H 2034C>T UCEC-US 7 44805066 44805066 single base substitution C T synonymous_variant H684H 2052C>T UCEC-US 7 44805066 44805066 single base substitution C T synonymous_variant H710H 2130C>T UCEC-US 7 44805066 44805066 single base substitution C T upstream_gene_variant UCEC-US 7 44805114 44805114 single base substitution C T exon_variant UCEC-US 7 44805114 44805114 single base substitution C T synonymous_variant G668G 2004C>T UCEC-US 7 44805114 44805114 single base substitution C T synonymous_variant G694G 2082C>T UCEC-US 7 44805114 44805114 single base substitution C T synonymous_variant G700G 2100C>T UCEC-US 7 44805114 44805114 single base substitution C T synonymous_variant G726G 2178C>T UCEC-US 7 44805114 44805114 single base substitution C T upstream_gene_variant UCEC-US 7 44806140 44806140 single base substitution C T downstream_gene_variant UCEC-US 7 44806140 44806140 single base substitution C T exon_variant UCEC-US 7 44806140 44806140 single base substitution C T missense_variant R787W 2359C>T UCEC-US 7 44806140 44806140 single base substitution C T missense_variant R813W 2437C>T UCEC-US 7 44806140 44806140 single base substitution C T missense_variant R819W 2455C>T UCEC-US 7 44806140 44806140 single base substitution C T missense_variant R845W 2533C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T26 COSM5345364 c.1240+4A>C p.? Unknown 7:44760597-44760597 + 8051712 COSM3785699 c.1849C>T p.R617C Substitution - Missense 7:44763402-44763402 + WSU-HN30 COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + H1155 COSM1195811 c.2422G>A p.A808T Substitution - Missense 7:44766430-44766430 + MOLT-4 COSM1683391 c.383_384insC p.L131fs*13 Insertion - Frameshift 7:44757392-44757393 + SW403 COSM4362498 c.1825C>A p.L609I Substitution - Missense 7:44763378-44763378 + S02139 COSM5674608 c.2291C>G p.T764S Substitution - Missense 7:44766212-44766212 + UM-SCC-2 COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + COLO678 COSM4621537 c.2052C>T p.P684P Substitution - coding silent 7:44765389-44765389 + PTC-54C COSM4162233 c.2198T>C p.L733P Substitution - Missense 7:44765535-44765535 + WSU-HN12 COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + TCGA-D5-6928-01 COSM1450955 c.1227C>G p.H409Q Substitution - Missense 7:44760580-44760580 + TCGA-BR-4292-01 COSM3881297 c.2598C>T p.G866G Substitution - coding silent 7:44766606-44766606 + TCGA-BR-8363-01 COSM3881298 c.2622T>C p.S874S Substitution - coding silent 7:44766630-44766630 + CAL33 COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + I2L-P19Tb-Tumor-Organoid COSM3263051 c.964G>A p.V322M Substitution - Missense 7:44759431-44759431 + RMS106_ COSM3923672 c.2188T>C p.F730L Substitution - Missense 7:44765525-44765525 + TCGA-C4-A0F6-01 COSM421434 c.63C>T p.F21F Substitution - coding silent 7:44756437-44756437 + TCGA-G3-A5SK-01 COSM4927410 c.665C>G p.S222C Substitution - Missense 7:44757960-44757960 + TCGA-DW-7838-01 COSM3995609 c.2298C>G p.P766P Substitution - coding silent 7:44766219-44766219 + RMS111_ COSM4987556 c.2023G>A p.D675N Substitution - Missense 7:44765360-44765360 + CN-AML-03-T COSM5428663 c.1892A>G p.N631S Substitution - Missense 7:44764450-44764450 + TCGA-DA-A1I7-06 COSM3639058 c.2326C>T p.P776S Substitution - Missense 7:44766247-44766247 + CSCC-6-T COSM4460960 c.1187C>T p.P396L Substitution - Missense 7:44760540-44760540 + ESO-0292 COSM1241923 c.377G>A p.G126D Substitution - Missense 7:44757386-44757386 + TCGA-FS-A1ZQ-06 COSM3639051 c.1593C>T p.C531C Substitution - coding silent 7:44761902-44761902 + TCGA-DU-8168-01 COSM3929056 c.1020C>T p.G340G Substitution - coding silent 7:44760177-44760177 + Case2d COSM1717079 c.396C>T p.G132G Substitution - coding silent 7:44757405-44757405 + GHE0988 COSM5715048 c.1709G>A p.R570Q Substitution - Missense 7:44763262-44763262 + YUZEPO COSM5407563 c.619C>T p.P207S Substitution - Missense 7:44757914-44757914 + ORL-48 COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + TCGA-MI-A75G-01 COSM4940146 c.823G>A p.G275R Substitution - Missense 7:44759290-44759290 + Case2a COSM1717079 c.396C>T p.G132G Substitution - coding silent 7:44757405-44757405 + 93VU147T COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + 431 COSM3263069 c.1636G>A p.V546I Substitution - Missense 7:44762920-44762920 + ESO-887 COSM1270983 c.978G>A p.T326T Substitution - coding silent 7:44759445-44759445 + TCGA-AA-3821-01 COSM294972 c.1149C>T p.S383S Substitution - coding silent 7:44760502-44760502 + TCGA-F1-6177-01 COSM3881287 c.1172A>G p.Q391R Substitution - Missense 7:44760525-44760525 + HCC126T COSM5818863 c.2342T>C p.I781T Substitution - Missense 7:44766263-44766263 + 3N62-VS-3T62 COSM4984482 c.1723G>A p.G575S Substitution - Missense 7:44763276-44763276 + CCK81 COSM3263035 c.42G>A p.A14A Substitution - coding silent 7:44756291-44756291 + DLD1 COSM4626034 c.2164G>A p.A722T Substitution - Missense 7:44765501-44765501 + B37 COSM1745143 c.1505_1507delACA p.N503delN Deletion - In frame 7:44761814-44761816 + 93VU147T COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + TCGA-D1-A163-01 COSM1089995 c.1609G>A p.V537M Substitution - Missense 7:44762893-44762893 + ESO-D76 COSM1270984 c.1628G>A p.R543H Substitution - Missense 7:44762912-44762912 + TCGA-CD-A4MG-01 COSM3881296 c.2346C>A p.S782S Substitution - coding silent 7:44766267-44766267 + RMS66_ COSM3923672 c.2188T>C p.F730L Substitution - Missense 7:44765525-44765525 + TCGA-EE-A2A0-06 COSM3639045 c.621C>G p.P207P Substitution - coding silent 7:44757916-44757916 + UM-SCC-47 COSM4596368 c.2209T>C p.S737P Substitution - Missense 7:44765546-44765546 + ATL045 COSM5710593 c.2356G>A p.D786N Substitution - Missense 7:44766277-44766277 + SCC-9 COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + TCGA-G4-6323-01 COSM1450956 c.1708C>T p.R570W Substitution - Missense 7:44763261-44763261 + H322T COSM1194989 c.1718G>A p.S573N Substitution - Missense 7:44763271-44763271 + CAL33 COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + TCGA-CM-6674-01 COSM1450958 c.2607G>C p.G869G Substitution - coding silent 7:44766615-44766615 + WSU-HN8 COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + J36_T COSM3950546 c.1892A>T p.N631I Substitution - Missense 7:44764450-44764450 + TCGA-A2-A0T4-01 COSM453120 c.1786G>A p.V596M Substitution - Missense 7:44763339-44763339 + OV207 COSM252927 c.1639C>T p.R547C Substitution - Missense 7:44762923-44762923 + PD22363a COSM5768082 c.1713C>A p.N571K Substitution - Missense 7:44763266-44763266 + TCGA-BJ-A45F-01 COSM3374633 c.1430G>A p.R477Q Substitution - Missense 7:44761739-44761739 + PT46 COSM5928997 c.553-4C>T p.? Unknown 7:44757844-44757844 + 66 COSM1233514 c.1813C>T p.R605C Substitution - Missense 7:44763366-44763366 + TCGA-BF-A1PX-01 COSM4905027 c.905C>T p.S302F Substitution - Missense 7:44759372-44759372 + 2293782 COSM4609330 c.500C>A p.T167N Substitution - Missense 7:44757509-44757509 + TCGA-33-4566-01 COSM746775 c.1949G>T p.G650V Substitution - Missense 7:44764961-44764961 + EGC23 COSM5062486 c.2182_2183insC p.F730fs*30 Insertion - Frameshift 7:44765519-44765520 + I2L-P19Tb-Tumor-Biopsy COSM3263051 c.964G>A p.V322M Substitution - Missense 7:44759431-44759431 + SNUH_G10_S1 COSM4004486 c.1224G>T p.L408F Substitution - Missense 7:44760577-44760577 + 276T COSM1727499 c.205G>T p.G69C Substitution - Missense 7:44756986-44756986 + B110-Tumor COSM1755294 c.166-1G>A p.? Unknown 7:44756946-44756946 + TCGA-AX-A0J1-01 COSM1089999 c.1862G>A p.C621Y Substitution - Missense 7:44764420-44764420 + 587338 COSM1233514 c.1813C>T p.R605C Substitution - Missense 7:44763366-44763366 + WSU-HN13 COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + G6 COSM1191908 c.2249G>A p.S750N Substitution - Missense 7:44766170-44766170 + CSCC-27-T COSM4483024 c.2663C>T p.P888L Substitution - Missense 7:44767523-44767523 + TCGA-FR-A3R1-01 COSM3639048 c.911C>T p.S304F Substitution - Missense 7:44759378-44759378 + 2492711 COSM5718934 c.254C>T p.S85F Substitution - Missense 7:44757035-44757035 + I2L-P23-Tumor-Biopsy COSM3263061 c.1308C>T p.F436F Substitution - coding silent 7:44761516-44761516 + CHC1756T COSM4804356 c.2429A>C p.H810P Substitution - Missense 7:44766437-44766437 + CCK81 COSM3263039 c.114G>A p.S38S Substitution - coding silent 7:44756488-44756488 + Pat_11_B COSM5872754 c.2309C>T p.T770I Substitution - Missense 7:44766230-44766230 + TCGA-13-1408-01 COSM117985 c.1917T>A p.C639* Substitution - Nonsense 7:44764475-44764475 + TCGA-EE-A2GO-06 COSM3639057 c.2325C>T p.T775T Substitution - coding silent 7:44766246-44766246 + PT46 COSM5884554 c.601C>T p.P201S Substitution - Missense 7:44757896-44757896 + WSU-HN12 COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + STC246 COSM5062485 c.1089G>A p.P363P Substitution - coding silent 7:44760442-44760442 + TCGA-B5-A0JR-01 COSM1089998 c.1761C>T p.D587D Substitution - coding silent 7:44763314-44763314 + TCGA-D3-A2JN-06 COSM3639056 c.2310C>T p.T770T Substitution - coding silent 7:44766231-44766231 + TCGA-BR-8591-01 COSM3881293 c.1863C>T p.C621C Substitution - coding silent 7:44764421-44764421 + TCGA-CG-4306-01 COSM3881289 c.1309C>T p.R437C Substitution - Missense 7:44761517-44761517 + B81-2-Tumor COSM1755295 c.2328G>A p.P776P Substitution - coding silent 7:44766249-44766249 + 0083_CRUK_PC_0083_T1_DNA COSM5423954 c.739C>A p.P247T Substitution - Missense 7:44758034-44758034 + SNUH_G16_S1 COSM4004486 c.1224G>T p.L408F Substitution - Missense 7:44760577-44760577 + CSCC-7-T COSM4469383 c.1599C>T p.S533S Substitution - coding silent 7:44762883-44762883 + CHC1756T COSM4804356 c.2429A>C p.H810P Substitution - Missense 7:44766437-44766437 + TCGA-BS-A0UF-01 COSM1089996 c.1702+2T>C p.? Unknown 7:44762988-44762988 + WSU-HN8 COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + 3N58-VS-3T58 COSM4984119 c.1092C>T p.G364G Substitution - coding silent 7:44760445-44760445 + TCGA-CS-5393-01 COSM3929057 c.2195C>A p.P732H Substitution - Missense 7:44765532-44765532 + PARPRW COSM5005749 c.267G>A p.L89L Substitution - coding silent 7:44757048-44757048 + TCGA-BR-4280-01 COSM1450958 c.2607G>C p.G869G Substitution - coding silent 7:44766615-44766615 + 14T COSM3715740 c.2062G>T p.D688Y Substitution - Missense 7:44765399-44765399 + BD114T COSM5503236 c.384delG p.G130fs*50 Deletion - Frameshift 7:44757393-44757393 + Pat_41_B COSM5872756 c.2641G>A p.E881K Substitution - Missense 7:44766649-44766649 + LUAD-RT-S01831 COSM384507 c.934C>T p.L312L Substitution - coding silent 7:44759401-44759401 + SF268 COSM1683391 c.383_384insC p.L131fs*13 Insertion - Frameshift 7:44757392-44757393 + PD6722a COSM5778877 c.296C>G p.A99G Substitution - Missense 7:44757077-44757077 + S0035 COSM5884553 c.194G>A p.G65E Substitution - Missense 7:44756975-44756975 + ESCC_161 COSM5647709 c.2645C>G p.P882R Substitution - Missense 7:44766653-44766653 + TCGA-Q1-A6DT-01 COSM4850660 c.1951C>T p.L651L Substitution - coding silent 7:44764963-44764963 + COLO678 COSM4621536 c.2045C>T p.P682L Substitution - Missense 7:44765382-44765382 + PTC-14C COSM4162232 c.769G>C p.A257P Substitution - Missense 7:44758064-44758064 + H1155 COSM1195134 c.2125G>A p.A709T Substitution - Missense 7:44765462-44765462 + CPCG0350-F1 COSM4880035 c.1485G>A p.P495P Substitution - coding silent 7:44761794-44761794 + T3 COSM4940146 c.823G>A p.G275R Substitution - Missense 7:44759290-44759290 + Mx38 COSM50219 c.439_465del27 p.A147_A155del Deletion - In frame 7:44757448-44757474 + 2293757 COSM4606884 c.155C>T p.T52I Substitution - Missense 7:44756529-44756529 + RMS85_ COSM3923672 c.2188T>C p.F730L Substitution - Missense 7:44765525-44765525 + TCGA-F5-6814-01 COSM3431621 c.622G>A p.A208T Substitution - Missense 7:44757917-44757917 + TCGA-EB-A299-01 COSM3639046 c.814-1G>A p.? Unknown 7:44759280-44759280 + pfg181T COSM1270984 c.1628G>A p.R543H Substitution - Missense 7:44762912-44762912 + TCGA-AD-5900-01 COSM1450957 c.2486C>T p.A829V Substitution - Missense 7:44766494-44766494 + TCGA-BR-8485-01 COSM3881290 c.1530C>G p.L510L Substitution - coding silent 7:44761839-44761839 + 2492713 COSM5718934 c.254C>T p.S85F Substitution - Missense 7:44757035-44757035 + TCGA-A8-A0A6-01 COSM3832871 c.1766T>G p.V589G Substitution - Missense 7:44763319-44763319 + TCGA-B8-5158-01 COSM485365 c.1470C>G p.S490R Substitution - Missense 7:44761779-44761779 + T368 COSM3263091 c.2608delC p.S872fs*19 Deletion - Frameshift 7:44766616-44766616 + ORL-48 COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + HCT15 COSM3263084 c.2278T>C p.S760P Substitution - Missense 7:44766199-44766199 + Co108 COSM50671 c.1850G>A p.R617H Substitution - Missense 7:44763403-44763403 + pfg121T COSM1450956 c.1708C>T p.R570W Substitution - Missense 7:44763261-44763261 + TCGA-EE-A2GU-06 COSM3639055 c.2292C>T p.T764T Substitution - coding silent 7:44766213-44766213 + 1115157 COSM5555760 c.1735G>T p.G579C Substitution - Missense 7:44763288-44763288 + SCC-25 COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + SCC-25 COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + PTC-54C COSM3923672 c.2188T>C p.F730L Substitution - Missense 7:44765525-44765525 + TCGA-EM-A3AR-01 COSM3374632 c.789G>C p.Q263H Substitution - Missense 7:44758084-44758084 + TCGA-A6-5665-01 COSM1450949 c.334delG p.G113fs*67 Deletion - Frameshift 7:44757115-44757115 + C004 COSM5407562 c.113C>T p.S38L Substitution - Missense 7:44756487-44756487 + 587376 COSM1233515 c.2359A>C p.I787L Substitution - Missense 7:44766280-44766280 + TCGA-EE-A29D-06 COSM3639060 c.2547C>T p.G849G Substitution - coding silent 7:44766555-44766555 + TCGA-AP-A0LM-01 COSM1089993 c.825G>A p.G275G Substitution - coding silent 7:44759292-44759292 + RH30SJ_ COSM3923672 c.2188T>C p.F730L Substitution - Missense 7:44765525-44765525 + T3147 COSM4742883 c.1281G>A p.V427V Substitution - coding silent 7:44761489-44761489 + TCGA-BF-A1PV-01 COSM3639059 c.2488C>T p.P830S Substitution - Missense 7:44766496-44766496 + UM-SCC-4 COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + UM-SCC-11B COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + T2 COSM5345363 c.369G>T p.G123G Substitution - coding silent 7:44757378-44757378 + NOKSI COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + LP6005690-DNA_B02 COSM5035189 c.553-10C>T p.? Unknown 7:44757838-44757838 + TCGA-BC-4073-01 COSM4937108 c.4A>T p.N2Y Substitution - Missense 7:44756253-44756253 + sysucc-311T COSM5467150 c.2552C>T p.A851V Substitution - Missense 7:44766560-44766560 + TCGA-B5-A11E-01 COSM1090002 c.2533C>T p.R845W Substitution - Missense 7:44766541-44766541 + 61 COSM5737920 c.386G>T p.G129V Substitution - Missense 7:44757395-44757395 + TCGA-CJ-6028-01 COSM485364 c.348G>A p.G116G Substitution - coding silent 7:44757129-44757129 + TCGA-FW-A3R5-06 COSM3923671 c.1870C>T p.L624L Substitution - coding silent 7:44764428-44764428 + TCGA-BR-6566-01 COSM3881292 c.1725C>T p.G575G Substitution - coding silent 7:44763278-44763278 + YUSMI COSM5407564 c.1103C>T p.S368F Substitution - Missense 7:44760456-44760456 + TCGA-B7-5818-01 COSM3881288 c.1259A>G p.E420G Substitution - Missense 7:44761467-44761467 + TCGA-EE-A2GR-06 COSM3639044 c.344C>T p.P115L Substitution - Missense 7:44757125-44757125 + T2940 COSM4742879 c.291C>T p.G97G Substitution - coding silent 7:44757072-44757072 + TCGA-ET-A25G-01 COSM3374634 c.2136C>G p.L712L Substitution - coding silent 7:44765473-44765473 + CSCC-55-T COSM4472704 c.17C>T p.P6L Substitution - Missense 7:44756266-44756266 + RMS111_ COSM3923672 c.2188T>C p.F730L Substitution - Missense 7:44765525-44765525 + 8051712 COSM3785699 c.1849C>T p.R617C Substitution - Missense 7:44763402-44763402 + TCGA-EE-A182-06 COSM3639050 c.1374C>T p.T458T Substitution - coding silent 7:44761582-44761582 + TCGA-EB-A4IS-01 COSM3639052 c.2051C>T p.P684L Substitution - Missense 7:44765388-44765388 + TCGA-C8-A27B-01 COSM1488576 c.3G>A p.M1I Substitution - Missense 7:44756252-44756252 + TCGA-A3-3311-01 COSM1137697 c.2203C>A p.P735T Substitution - Missense 7:44765540-44765540 + SMS-CTR COSM3923672 c.2188T>C p.F730L Substitution - Missense 7:44765525-44765525 + 12924 COSM5617411 c.1215C>G p.L405L Substitution - coding silent 7:44760568-44760568 + PD13298a COSM5794906 c.2197C>T p.L733L Substitution - coding silent 7:44765534-44765534 + TCGA-13-1408-01 COSM78816 c.1207C>G p.P403A Substitution - Missense 7:44760560-44760560 + TCGA-59-2351-01 COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + PR-04-639 COSM248480 c.1597-1G>C p.? Unknown 7:44762880-44762880 + SC_9047 COSM5559840 c.1888C>A p.L630I Substitution - Missense 7:44764446-44764446 + TCGA-32-4208-01 COSM3412093 c.931C>T p.P311S Substitution - Missense 7:44759398-44759398 + UM-SCC-2 COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + sysucc-704T COSM5766512 c.173G>A p.G58E Substitution - Missense 7:44756954-44756954 + KPOPBR-03-T COSM5965234 c.1415A>G p.Y472C Substitution - Missense 7:44761724-44761724 + 3030_T COSM3950547 c.2348A>T p.Y783F Substitution - Missense 7:44766269-44766269 + 473 COSM4438211 c.21G>A p.M7I Substitution - Missense 7:44756270-44756270 + PD4135a COSM166275 c.1306delT p.F436fs*9 Deletion - Frameshift 7:44761514-44761514 + G6 COSM1191942 c.2070C>A p.H690Q Substitution - Missense 7:44765407-44765407 + TCGA-GF-A6C9-06 COSM4901623 c.907C>T p.P303S Substitution - Missense 7:44759374-44759374 + HN_63080 COSM128538 c.1494C>T p.I498I Substitution - coding silent 7:44761803-44761803 + ME043T COSM228459 c.2186_2187CC>TT p.P729>? Complex 7:44765523-44765524 + HCT-116 COSM1683391 c.383_384insC p.L131fs*13 Insertion - Frameshift 7:44757392-44757393 + TCGA-43-6143-01 COSM746776 c.331C>T p.R111C Substitution - Missense 7:44757112-44757112 + CSCC-62-T COSM4482489 c.2610C>T p.P870P Substitution - coding silent 7:44766618-44766618 + TCGA-BS-A0UJ-01 COSM1089997 c.1704A>C p.I568I Substitution - coding silent 7:44763257-44763257 + TCGA-EE-A2GB-06 COSM601546 c.2568G>A p.T856T Substitution - coding silent 7:44766576-44766576 + TCGA-D1-A167-01 COSM1090000 c.2130C>T p.H710H Substitution - coding silent 7:44765467-44765467 + TCGA-DK-A3WX-01 COSM3778459 c.1790C>A p.S597Y Substitution - Missense 7:44763343-44763343 + 2492714 COSM5718934 c.254C>T p.S85F Substitution - Missense 7:44757035-44757035 + pfg036T COSM4754139 c.1877C>T p.S626L Substitution - Missense 7:44764435-44764435 + TCGA-BR-8372-01 COSM3881295 c.2146G>A p.V716M Substitution - Missense 7:44765483-44765483 + SC_9047 COSM5570368 c.2394C>T p.T798T Substitution - coding silent 7:44766315-44766315 + TCGA-61-1998-01 COSM73383 c.157C>G p.Q53E Substitution - Missense 7:44756531-44756531 + TCGA-EE-A2MS-06 COSM3639042 c.18C>T p.P6P Substitution - coding silent 7:44756267-44756267 + CAL27 COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + CSCC-37-T COSM4451092 c.1055A>G p.Q352R Substitution - Missense 7:44760212-44760212 + T3092 COSM4742880 c.445_462del18 p.V153_A158delVAAAAA Deletion - In frame 7:44757454-44757471 + 12M COSM5577868 c.1748C>T p.P583L Substitution - Missense 7:44763301-44763301 + Case2c COSM1716963 c.384_385insG p.L131fs*13 Insertion - Frameshift 7:44757393-44757394 + YUOMEGA COSM5407562 c.113C>T p.S38L Substitution - Missense 7:44756487-44756487 + ESCC_164 COSM5648366 c.501C>T p.T167T Substitution - coding silent 7:44757510-44757510 + TCGA-BK-A0CB-01 COSM1089994 c.870G>T p.Q290H Substitution - Missense 7:44759337-44759337 + PT35 COSM5912732 c.602C>T p.P201L Substitution - Missense 7:44757897-44757897 + PT15_1 COSM5897662 c.1294G>A p.V432I Substitution - Missense 7:44761502-44761502 + Pat_60_B COSM5872753 c.959T>G p.L320R Substitution - Missense 7:44759426-44759426 + TCGA-GN-A268-06 COSM3639049 c.976A>G p.T326A Substitution - Missense 7:44759443-44759443 + TCGA-DA-A3F8-06 COSM3639054 c.2271C>T p.F757F Substitution - coding silent 7:44766192-44766192 + TCGA-EE-A2M5-06 COSM3639043 c.37C>T p.P13S Substitution - Missense 7:44756286-44756286 + TCGA-D1-A103-01 COSM1090001 c.2178C>T p.G726G Substitution - coding silent 7:44765515-44765515 + TCGA-E2-A1IN-01 COSM1488577 c.1723G>T p.G575C Substitution - Missense 7:44763276-44763276 + UM-SCC-17B COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + ccRCC-51 COSM1659449 c.467C>T p.A156V Substitution - Missense 7:44757476-44757476 + TCGA-FW-A3R5-06 COSM3923670 c.1077C>T p.T359T Substitution - coding silent 7:44760430-44760430 + SNUH_G76_S1 COSM4417920 c.1224G>A p.L408L Substitution - coding silent 7:44760577-44760577 + OSCC-GB_00140111 COSM3715740 c.2062G>T p.D688Y Substitution - Missense 7:44765399-44765399 + TCGA-CG-5721-01 COSM3881291 c.1688A>T p.H563L Substitution - Missense 7:44762972-44762972 + B110 COSM1755294 c.166-1G>A p.? Unknown 7:44756946-44756946 + TCGA-BR-4184-01 COSM3881285 c.94G>A p.A32T Substitution - Missense 7:44756468-44756468 + NOKSI COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + LIS08PT2 COSM1732610 c.63C>G p.F21L Substitution - Missense 7:44756437-44756437 + CSCC-49-T COSM4508666 c.783C>T p.P261P Substitution - coding silent 7:44758078-44758078 + sysucc-1370T COSM5472413 c.136T>C p.W46R Substitution - Missense 7:44756510-44756510 + CSCC-40-T COSM4570002 c.2245T>C p.S749P Substitution - Missense 7:44766166-44766166 + ME002T COSM222123 c.2110C>T p.R704C Substitution - Missense 7:44765447-44765447 + 2492712 COSM5718934 c.254C>T p.S85F Substitution - Missense 7:44757035-44757035 + TCGA-D5-6537-01 COSM1450959 c.2647G>T p.A883S Substitution - Missense 7:44766655-44766655 + TCGA-AA-3821-01 COSM294973 c.1900C>T p.R634W Substitution - Missense 7:44764458-44764458 + HCC1937 COSM50670 c.491C>G p.A164G Substitution - Missense 7:44757500-44757500 + S0051 COSM5884554 c.601C>T p.P201S Substitution - Missense 7:44757896-44757896 + Case2b COSM1717079 c.396C>T p.G132G Substitution - coding silent 7:44757405-44757405 + TCGA-06-5858-01 COSM3412094 c.2529G>A p.A843A Substitution - coding silent 7:44766537-44766537 + ESCC_81 COSM1195134 c.2125G>A p.A709T Substitution - Missense 7:44765462-44765462 + TCGA-24-0975-01 COSM118638 c.879C>T p.P293P Substitution - coding silent 7:44759346-44759346 + LOVO COSM3263080 c.1922T>C p.V641A Substitution - Missense 7:44764480-44764480 + CSCC-49-T COSM4478858 c.2272C>T p.P758S Substitution - Missense 7:44766193-44766193 + CSCC-35-T COSM4453062 c.2477A>G p.N826S Substitution - Missense 7:44766485-44766485 + TCGA-GV-A3QF-01 COSM3778458 c.19A>G p.M7V Substitution - Missense 7:44756268-44756268 + BICR_22 COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + NOKSI COSM4596368 c.2209T>C p.S737P Substitution - Missense 7:44765546-44765546 + TCGA-EE-A2A6-06 COSM3639047 c.868C>A p.Q290K Substitution - Missense 7:44759335-44759335 + TCGA-EE-A3JE-06 COSM3923672 c.2188T>C p.F730L Substitution - Missense 7:44765525-44765525 + TCGA-FW-A3R5-06 COSM3923669 c.761C>T p.P254L Substitution - Missense 7:44758056-44758056 + Case2c COSM1717079 c.396C>T p.G132G Substitution - coding silent 7:44757405-44757405 + CSCC-38-T COSM3639059 c.2488C>T p.P830S Substitution - Missense 7:44766496-44766496 + B81-2 COSM1755295 c.2328G>A p.P776P Substitution - coding silent 7:44766249-44766249 + Pat_11_A COSM5872754 c.2309C>T p.T770I Substitution - Missense 7:44766230-44766230 + CN-AML-NR-03-Dx COSM5428663 c.1892A>G p.N631S Substitution - Missense 7:44764450-44764450 + CSCC-41-T COSM4516625 c.2109_2110CC>TT p.R704C Substitution - Missense 7:44765446-44765447 + TCGA-EE-A181-06 COSM3639053 c.2207C>T p.P736L Substitution - Missense 7:44765544-44765544 + 472 COSM4438026 c.1928+3G>A p.? Unknown 7:44764489-44764489 + CAL27 COSM4590535 c.1513A>C p.T505P Substitution - Missense 7:44761822-44761822 + BK0039 COSM4187204 c.152C>T p.A51V Substitution - Missense 7:44756526-44756526 + WSU-HN13 COSM4596368 c.2209T>C p.S737P Substitution - Missense 7:44765546-44765546 + TCGA-BR-7196-01 COSM3881286 c.692C>G p.P231R Substitution - Missense 7:44757987-44757987 + LOVO COSM3263040 c.150C>T p.N50N Substitution - coding silent 7:44756524-44756524 + WSU-HN13 COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + T3225 COSM4742881 c.813G>T p.E271D Substitution - Missense 7:44758108-44758108 + TCGA-A4-A5DU-01 COSM3995608 c.172G>A p.G58R Substitution - Missense 7:44756953-44756953 + SCC-9 COSM120117 c.1521C>A p.H507Q Substitution - Missense 7:44761830-44761830 + BD180T COSM5495044 c.2719A>G p.T907A Substitution - Missense 7:44767579-44767579 + Pat_41_A COSM5872755 c.2599G>A p.V867M Substitution - Missense 7:44766607-44766607 + 1115157 COSM5555761 c.1736G>T p.G579V Substitution - Missense 7:44763289-44763289 + 8033471 COSM3394786 c.1515C>T p.T505T Substitution - coding silent 7:44761824-44761824 + S01563 COSM316698 c.640G>T p.G214C Substitution - Missense 7:44757935-44757935 + T3091 COSM4742882 c.1011C>T p.N337N Substitution - coding silent 7:44760168-44760168 + TCGA-29-1688-01 COSM1330605 c.2031G>A p.T677T Substitution - coding silent 7:44765368-44765368 + TCGA-HU-A4G8-01 COSM3881294 c.1925G>A p.C642Y Substitution - Missense 7:44764483-44764483 + 42 COSM5014690 c.950C>A p.T317N Substitution - Missense 7:44759417-44759417 + VACO4S COSM4657292 c.2655C>T p.D885D Substitution - coding silent 7:44766663-44766663 + TCGA-G4-6320-01 COSM3698417 c.2124C>T p.P708P Substitution - coding silent 7:44765461-44765461 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.77978 7p13 611196 Hs.600631;Hs.600633;Hs.600634;Hs.600635;Hs.600636;Hs.600638;Hs.600639;Hs.600642;Hs.600643;Hs.600645;Hs.600647;Hs.600648;Hs.600649;Hs.600650;Hs.600651;Hs.600653;Hs.600655;Hs.600658;Hs.600659;Hs.600663;Hs.600665;Hs.600666;Hs.600667;Hs.600668;Hs.600669;Hs.600671;Hs.600673;Hs.600674;Hs.600675;Hs.600678;Hs.600681 7p13 611196

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E420G c.1259A>G 7 44801066 STAD A G Missense p.Q391R c.1172A>G 7 44800124 STAD A G Missense p.S789G c.2365A>G 7 44805885 STAD A G Missense p.T326A c.976A>G 7 44799042 CM A G Missense p.Y273C c.818A>G 7 44798884 STAD C A Missense p.H507Q c.1521C>A 7 44801429 OV C A Missense p.P732H c.2195C>A 7 44805131 LGG C A Missense p.P735T c.2203C>A 7 44805139 RCCC C A Missense p.Q290K c.868C>A 7 44798934 CM CC TT Missense p.P729L c.2186_2187delinsTT 7 44805122 CM - C Frameshift p.F730Lfs*30 c.2187dupC 7 44805119 HNSC C - Frameshift p.I602Sfs*60 c.1803delC 7 44802952 LUAD C G Missense p.P403A c.1207C>G 7 44800159 OV C G Missense p.Q53E c.157C>G 7 44796130 OV C G Missense p.S490R c.1470C>G 7 44801378 RCCC C G Synonymous p.L405L c.1215C>G 7 44800167 NSCLC C G Synonymous p.L712L c.2136C>G 7 44805072 THCA C G Synonymous p.P207P c.621C>G 7 44797515 CM C G Synonymous p.V265V c.795C>G 7 44797689 HNSC CTCCTCTCACA - IntronicDeletion . c.2243-12_2243-2delCTCCTCTCACA 7 44805751 BRCA C T IntronicSNV . c.1071+78C>T 7 44799905 CM C T IntronicSNV . c.1072-56C>T 7 44799968 CLL C T IntronicSNV . c.166-132C>T 7 44796414 CM C T IntronicSNV . c.166-160C>T 7 44796386 CM C T IntronicSNV . c.166-200C>T 7 44796346 CM C T IntronicSNV . c.2242+37C>T 7 44805215 CM C T Missense p.A721V c.2162C>T 7 44805098 CM C T Missense p.P115L c.344C>T 7 44796724 CM C T Missense p.P13S c.37C>T 7 44795885 CM C T Missense p.P295L c.884C>T 7 44798950 CM C T Missense p.P311S c.931C>T 7 44798997 GBM C T Missense p.P736L c.2207C>T 7 44805143 CM C T Missense p.P776S c.2326C>T 7 44805846 CM C T Missense p.P830S c.2488C>T 7 44806095 CM C T Missense p.R111C c.331C>T 7 44796711 LUSC C T Missense p.R437C c.1309C>T 7 44801116 STAD C T Missense p.R477W c.1429C>T 7 44801337 CM C T Missense p.R704C c.2110C>T 7 44805046 CM C T Missense p.S302F c.905C>T 7 44798971 CM C T Synonymous p.C531C c.1593C>T 7 44801501 CM C T Synonymous p.D587D c.1761C>T 7 44802913 UCEC C T Synonymous p.F21F c.63C>T 7 44796036 BLCA C T Synonymous p.F757F c.2271C>T 7 44805791 CM C T Synonymous p.G340G c.1020C>T 7 44799776 LGG C T Synonymous p.G866G c.2598C>T 7 44806205 STAD C T Synonymous p.I498I c.1494C>T 7 44801402 HNSC C T Synonymous p.L791L c.2373C>T 7 44805893 CM C T Synonymous p.P293P c.879C>T 7 44798945 OV C T Synonymous p.P6P c.18C>T 7 44795866 CM C T Synonymous p.T458T c.1374C>T 7 44801181 CM C T Synonymous p.T764T c.2292C>T 7 44805812 CM C T Synonymous p.T770T c.2310C>T 7 44805830 CM C T Synonymous p.T775T c.2325C>T 7 44805845 CM G A IntronicSNV . c.2243-121G>A 7 44805642 RCCC G A Missense p.M1I c.3G>A 7 44795851 BRCA G A Missense p.R543H c.1628G>A 7 44802511 ESCA G A Missense p.V537M c.1609G>A 7 44802492 UCEC G A Missense p.V596M c.1786G>A 7 44802938 BRCA G A SpliceAcceptorSNV . c.814-1G>A 7 44798879 CM G A Synonymous p.G116G c.348G>A 7 44796728 RCCC G A Synonymous p.T326T c.978G>A 7 44799044 ESCA G A Synonymous p.T856T c.2568G>A 7 44806175 CM G A Synonymous p.T856T c.2568G>A 7 44806175 LUAD G A Synonymous p.T907T c.2721G>A 7 44807180 LUAD G C Missense p.G315A c.944G>C 7 44799010 LUAD G C Missense p.Q263H c.789G>C 7 44797683 THCA G C Synonymous p.G869G c.2607G>C 7 44806214 STAD G T Missense p.D429Y c.1285G>T 7 44801092 LUAD G T Missense p.G214C c.640G>T 7 44797534 SCLC G T Missense p.G575C c.1723G>T 7 44802875 BRCA G T Missense p.Q290H c.870G>T 7 44798936 UCEC G T Missense p.R360L c.1079G>T 7 44800031 LUAD G T Missense p.R520L c.1559G>T 7 44801467 LUAD T A Nonsense p.C639* c.1917T>A 7 44804074 OV T C Missense p.F730L c.2188T>C 7 44805124 CM T C Synonymous p.D429D c.1287T>C 7 44801094 HNSC T - Frameshift p.F436Sfs*9 c.1307delT 7 44801113 BRCA