Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 7 148427336 148427336 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr7:148427336G>A c.122G>A c.(121-123)aGa>aAa p.R41K BLCA 7 148451088 148451088 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr7:148451088C>G c.161C>G c.(160-162)aCt>aGt p.T54S BLCA 7 148457438 148457438 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr7:148457438G>C c.639G>C c.(637-639)ctG>ctC p.L213L BLCA 7 148457547 148457547 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr7:148457547G>T c.748G>T c.(748-750)Gaa>Taa p.E250* BLCA 7 148463737 148463737 + Missense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr7:148463737G>A c.874G>A c.(874-876)Gaa>Aaa p.E292K BLCA 7 148481098 148481098 + Silent SNP C C T TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr7:148481098C>T c.1227C>T c.(1225-1227)acC>acT p.T409T BLCA 7 148481129 148481129 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr7:148481129G>A c.1258G>A c.(1258-1260)Gag>Aag p.E420K BLCA 7 148483671 148483671 + Missense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr7:148483671G>A c.1327G>A c.(1327-1329)Gaa>Aaa p.E443K BLCA 7 148484180 148484180 + Missense_Mutation SNP G G A TCGA-DK-AA6M-01A-11D-A391-08 TCGA-DK-AA6M-10A-01D-A394-08 g.chr7:148484180G>A c.1447G>A c.(1447-1449)Gat>Aat p.D483N BLCA 7 148484180 148484180 + Missense_Mutation SNP G G A TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr7:148484180G>A c.1447G>A c.(1447-1449)Gat>Aat p.D483N BLCA 7 148484180 148484180 + Missense_Mutation SNP G G A TCGA-FD-A6TH-01A-11D-A32B-08 TCGA-FD-A6TH-10A-01D-A329-08 g.chr7:148484180G>A c.1447G>A c.(1447-1449)Gat>Aat p.D483N BLCA 7 148484180 148484180 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr7:148484180G>A c.1447G>A c.(1447-1449)Gat>Aat p.D483N BLCA 7 148484186 148484186 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr7:148484186G>A c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K BLCA 7 148484186 148484186 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 g.chr7:148484186G>A c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K BLCA 7 148484186 148484186 + Missense_Mutation SNP G G A TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chr7:148484186G>A c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K BLCA 7 148487405 148487405 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr7:148487405G>A c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K BLCA 7 148489822 148489822 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr7:148489822C>T c.1811C>T c.(1810-1812)tCg>tTg p.S604L BLCA 7 148489832 148489832 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr7:148489832G>C c.1821G>C c.(1819-1821)caG>caC p.Q607H BLCA 7 148489832 148489832 + Silent SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr7:148489832G>A c.1821G>A c.(1819-1821)caG>caA p.Q607Q BLCA 7 148496370 148496370 + Missense_Mutation SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 g.chr7:148496370G>A c.2140G>A c.(2140-2142)Gcc>Acc p.A714T BLCA 7 148496425 148496425 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 g.chr7:148496425G>A c.2195G>A c.(2194-2196)gGc>gAc p.G732D BLCA 7 148497603 148497603 + Missense_Mutation SNP G G A TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr7:148497603G>A c.2260G>A c.(2260-2262)Gac>Aac p.D754N BRCA 7 148454195 148454195 + Missense_Mutation SNP C C T TCGA-E2-A1AZ-01A-11D-A12Q-09 TCGA-E2-A1AZ-10A-01D-A12Q-09 g.chr7:148454195C>T c.436C>T c.(436-438)Cgc>Tgc p.R146C BRCA 7 148457520 148457520 + Missense_Mutation SNP G G C TCGA-AQ-A0Y5-01A-11D-A14K-09 TCGA-AQ-A0Y5-10A-01D-A17G-09 g.chr7:148457520G>C c.721G>C c.(721-723)Gag>Cag p.E241Q BRCA 7 148463718 148463718 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr7:148463718T>C c.855T>C c.(853-855)gaT>gaC p.D285D CESC 7 148454089 148454089 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr7:148454089G>A c.330G>A c.(328-330)ttG>ttA p.L110L CESC 7 148457536 148457536 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr7:148457536G>C c.737G>C c.(736-738)aGa>aCa p.R246T CESC 7 148483659 148483659 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr7:148483659G>A c.1315G>A c.(1315-1317)Gag>Aag p.E439K CESC 7 148484149 148484149 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr7:148484149G>A c.1416G>A c.(1414-1416)aaG>aaA p.K472K CESC 7 148484186 148484186 + Missense_Mutation SNP G G A TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 g.chr7:148484186G>A c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K CESC 7 148487457 148487457 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 g.chr7:148487457G>A c.1730G>A c.(1729-1731)cGa>cAa p.R577Q CESC 7 148495070 148495070 + Silent SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 g.chr7:148495070G>A c.1989G>A c.(1987-1989)ttG>ttA p.L663L COAD 7 148427228 148427228 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr7:148427228G>A c.14G>A c.(13-15)cGg>cAg p.R5Q COAD 7 148454196 148454196 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr7:148454196G>A c.437G>A c.(436-438)cGc>cAc p.R146H COAD 7 148457532 148457532 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr7:148457532A>G c.733A>G c.(733-735)Acc>Gcc p.T245A COAD 7 148457556 148457556 + Nonsense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:148457556C>T c.757C>T c.(757-759)Cag>Tag p.Q253* COAD 7 148464720 148464720 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr7:148464720G>A c.962G>A c.(961-963)cGc>cAc p.R321H COAD 7 148464824 148464824 + Nonsense_Mutation SNP G G T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr7:148464824G>T c.1066G>T c.(1066-1068)Gga>Tga p.G356* COAD 7 148480913 148480914 + Frame_Shift_Ins INS - - A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:148480913_148480914insA c.1122_1123insA c.(1123-1125)aaafs p.K375fs COAD 7 148480914 148480914 + Frame_Shift_Del DEL A A - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr7:148480914delA c.1123delA c.(1123-1125)aaafs p.K376fs COAD 7 148484130 148484130 + Missense_Mutation SNP A A C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr7:148484130A>C c.1397A>C c.(1396-1398)tAt>tCt p.Y466S COAD 7 148487509 148487509 + Nonsense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:148487509C>A c.1782C>A c.(1780-1782)tgC>tgA p.C594* COAD 7 148494907 148494908 + Frame_Shift_Ins INS - - T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr7:148494907_148494908insT c.1903_1904insT c.(1903-1905)attfs p.I635fs COAD 7 148494915 148494915 + Silent SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr7:148494915G>A c.1911G>A c.(1909-1911)gcG>gcA p.A637A COAD 7 148494941 148494941 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr7:148494941C>T c.1937C>T c.(1936-1938)tCg>tTg p.S646L COAD 7 148494941 148494941 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:148494941C>T c.1937C>T c.(1936-1938)tCg>tTg p.S646L COAD 7 148495098 148495098 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:148495098C>A c.2017C>A c.(2017-2019)Ctt>Att p.L673I COAD 7 148496427 148496427 + Missense_Mutation SNP G G A TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr7:148496427G>A c.2197G>A c.(2197-2199)Gag>Aag p.E733K COAD 7 148497633 148497633 + Nonsense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr7:148497633C>T c.2290C>T c.(2290-2292)Cga>Tga p.R764* COADREAD 7 148427228 148427228 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr7:148427228G>A c.14G>A c.(13-15)cGg>cAg p.R5Q COADREAD 7 148451114 148451114 + Nonsense_Mutation SNP C C T TCGA-AG-3611-01A-01W-0833-10 TCGA-AG-3611-10A-01W-0833-10 g.chr7:148451114C>T c.187C>T c.(187-189)Cga>Tga p.R63* COADREAD 7 148454196 148454196 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr7:148454196G>A c.437G>A c.(436-438)cGc>cAc p.R146H COADREAD 7 148457532 148457532 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr7:148457532A>G c.733A>G c.(733-735)Acc>Gcc p.T245A COADREAD 7 148457556 148457556 + Nonsense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr7:148457556C>T c.757C>T c.(757-759)Cag>Tag p.Q253* COADREAD 7 148464720 148464720 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr7:148464720G>A c.962G>A c.(961-963)cGc>cAc p.R321H COADREAD 7 148464824 148464824 + Nonsense_Mutation SNP G G T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr7:148464824G>T c.1066G>T c.(1066-1068)Gga>Tga p.G356* COADREAD 7 148480913 148480914 + Frame_Shift_Ins INS - - A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:148480913_148480914insA c.1122_1123insA c.(1123-1125)aaafs p.K375fs COADREAD 7 148480914 148480914 + Frame_Shift_Del DEL A A - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr7:148480914delA c.1123delA c.(1123-1125)aaafs p.K376fs COADREAD 7 148484130 148484130 + Missense_Mutation SNP A A C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr7:148484130A>C c.1397A>C c.(1396-1398)tAt>tCt p.Y466S COADREAD 7 148487509 148487509 + Nonsense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:148487509C>A c.1782C>A c.(1780-1782)tgC>tgA p.C594* COADREAD 7 148494907 148494908 + Frame_Shift_Ins INS - - T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr7:148494907_148494908insT c.1903_1904insT c.(1903-1905)attfs p.I635fs COADREAD 7 148494915 148494915 + Silent SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr7:148494915G>A c.1911G>A c.(1909-1911)gcG>gcA p.A637A COADREAD 7 148494941 148494941 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr7:148494941C>T c.1937C>T c.(1936-1938)tCg>tTg p.S646L COADREAD 7 148494941 148494941 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:148494941C>T c.1937C>T c.(1936-1938)tCg>tTg p.S646L COADREAD 7 148495098 148495098 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:148495098C>A c.2017C>A c.(2017-2019)Ctt>Att p.L673I COADREAD 7 148496426 148496426 + Silent SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:148496426C>T c.2196C>T c.(2194-2196)ggC>ggT p.G732G COADREAD 7 148496427 148496427 + Missense_Mutation SNP G G A TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr7:148496427G>A c.2197G>A c.(2197-2199)Gag>Aag p.E733K COADREAD 7 148497633 148497633 + Nonsense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr7:148497633C>T c.2290C>T c.(2290-2292)Cga>Tga p.R764* DLBC 7 148454103 148454103 + Missense_Mutation SNP T T C TCGA-GS-A9TT-01A-11D-A382-10 TCGA-GS-A9TT-10A-01D-A385-10 g.chr7:148454103T>C c.344T>C c.(343-345)gTa>gCa p.V115A ESCA 7 148480914 148480914 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr7:148480914delA c.1123delA c.(1123-1125)aaafs p.K376fs ESCA 7 148480983 148480983 + Splice_Site SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr7:148480983G>T c.e10+1 ESCA 7 148487454 148487454 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr7:148487454G>T c.1727G>T c.(1726-1728)gGc>gTc p.G576V ESCA 7 148497645 148497645 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr7:148497645G>A c.2302G>A c.(2302-2304)Gaa>Aaa p.E768K GBM 7 148457457 148457457 + Missense_Mutation SNP G G A TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chr7:148457457G>A c.658G>A c.(658-660)Gca>Aca p.A220T GBM 7 148484161 148484161 + Missense_Mutation SNP C C G TCGA-27-2528-01A-01D-1494-08 TCGA-27-2528-10A-01D-1494-08 g.chr7:148484161C>G c.1428C>G c.(1426-1428)caC>caG p.H476Q GBM 7 148495685 148495685 + Frame_Shift_Del DEL C C - TCGA-76-6191-01A-12D-1696-08 TCGA-76-6191-10A-01D-1696-08 g.chr7:148495685delC c.2052delC c.(2050-2052)atcfs p.I684fs GBMLGG 7 148451085 148451085 + Missense_Mutation SNP G G A TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr7:148451085G>A c.158G>A c.(157-159)tGt>tAt p.C53Y GBMLGG 7 148457457 148457457 + Missense_Mutation SNP G G A TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chr7:148457457G>A c.658G>A c.(658-660)Gca>Aca p.A220T GBMLGG 7 148484161 148484161 + Missense_Mutation SNP C C G TCGA-27-2528-01A-01D-1494-08 TCGA-27-2528-10A-01D-1494-08 g.chr7:148484161C>G c.1428C>G c.(1426-1428)caC>caG p.H476Q GBMLGG 7 148495685 148495685 + Frame_Shift_Del DEL C C - TCGA-76-6191-01A-12D-1696-08 TCGA-76-6191-10A-01D-1696-08 g.chr7:148495685delC c.2052delC c.(2050-2052)atcfs p.I684fs HNSC 7 148427271 148427271 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr7:148427271G>A c.57G>A c.(55-57)caG>caA p.Q19Q HNSC 7 148451163 148451163 + Missense_Mutation SNP G G A TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 g.chr7:148451163G>A c.236G>A c.(235-237)gGa>gAa p.G79E HNSC 7 148456685 148456685 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr7:148456685G>A c.580G>A c.(580-582)Gaa>Aaa p.E194K HNSC 7 148457442 148457442 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr7:148457442G>A c.643G>A c.(643-645)Gaa>Aaa p.E215K HNSC 7 148457514 148457514 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr7:148457514G>A c.715G>A c.(715-717)Gac>Aac p.D239N HNSC 7 148463737 148463737 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr7:148463737G>A c.874G>A c.(874-876)Gaa>Aaa p.E292K HNSC 7 148483659 148483659 + Missense_Mutation SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 g.chr7:148483659G>A c.1315G>A c.(1315-1317)Gag>Aag p.E439K HNSC 7 148484186 148484186 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr7:148484186G>A c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K HNSC 7 148485666 148485666 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr7:148485666G>C c.1497G>C c.(1495-1497)gaG>gaC p.E499D HNSC 7 148485671 148485671 + Missense_Mutation SNP C C T TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr7:148485671C>T c.1502C>T c.(1501-1503)aCc>aTc p.T501I HNSC 7 148487477 148487477 + Nonsense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 g.chr7:148487477C>T c.1750C>T c.(1750-1752)Cag>Tag p.Q584* HNSC 7 148495716 148495716 + Nonsense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr7:148495716G>T c.2083G>T c.(2083-2085)Gaa>Taa p.E695* HNSC 7 148496405 148496405 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr7:148496405G>A c.2175G>A c.(2173-2175)ctG>ctA p.L725L KIPAN 7 148454216 148454216 + Nonsense_Mutation SNP C C T TCGA-CJ-4912-01A-01D-1429-08 TCGA-CJ-4912-11A-01D-1429-08 g.chr7:148454216C>T c.457C>T c.(457-459)Cga>Tga p.R153* KIPAN 7 148484199 148484199 + Missense_Mutation SNP T T G TCGA-2Z-A9J7-01A-11D-A382-10 TCGA-2Z-A9J7-10A-01D-A385-10 g.chr7:148484199T>G c.1466T>G c.(1465-1467)aTc>aGc p.I489S KIPAN 7 148485659 148485659 + Missense_Mutation SNP G G A TCGA-B2-4099-01A-02D-1251-10 TCGA-B2-4099-11A-01D-1251-10 g.chr7:148485659G>A c.1490G>A c.(1489-1491)gGg>gAg p.G497E KIPAN 7 148486899 148486899 + Frame_Shift_Del DEL C C - TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr7:148486899delC c.1655delC c.(1654-1656)acafs p.T552fs KIPAN 7 148496376 148496376 + Missense_Mutation SNP G G A TCGA-MH-A560-01A-11D-A26P-10 TCGA-MH-A560-10A-01D-A26P-10 g.chr7:148496376G>A c.2146G>A c.(2146-2148)Gtg>Atg p.V716M KIRC 7 148454216 148454216 + Nonsense_Mutation SNP C C T TCGA-CJ-4912-01A-01D-1429-08 TCGA-CJ-4912-11A-01D-1429-08 g.chr7:148454216C>T c.457C>T c.(457-459)Cga>Tga p.R153* KIRC 7 148485659 148485659 + Missense_Mutation SNP G G A TCGA-B2-4099-01A-02D-1251-10 TCGA-B2-4099-11A-01D-1251-10 g.chr7:148485659G>A c.1490G>A c.(1489-1491)gGg>gAg p.G497E KIRC 7 148486899 148486899 + Frame_Shift_Del DEL C C - TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr7:148486899delC c.1655delC c.(1654-1656)acafs p.T552fs KIRP 7 148484199 148484199 + Missense_Mutation SNP T T G TCGA-2Z-A9J7-01A-11D-A382-10 TCGA-2Z-A9J7-10A-01D-A385-10 g.chr7:148484199T>G c.1466T>G c.(1465-1467)aTc>aGc p.I489S KIRP 7 148496376 148496376 + Missense_Mutation SNP G G A TCGA-MH-A560-01A-11D-A26P-10 TCGA-MH-A560-10A-01D-A26P-10 g.chr7:148496376G>A c.2146G>A c.(2146-2148)Gtg>Atg p.V716M LAML 7 148454181 148454181 + Missense_Mutation SNP A A G TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 g.chr7:148454181A>G c.422A>G c.(421-423)aAt>aGt p.N141S LAML 7 148457522 148457522 + Missense_Mutation SNP G G T TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 g.chr7:148457522G>T c.723G>T c.(721-723)gaG>gaT p.E241D LGG 7 148451085 148451085 + Missense_Mutation SNP G G A TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr7:148451085G>A c.158G>A c.(157-159)tGt>tAt p.C53Y LIHC 7 148451110 148451110 + Silent SNP A A G TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr7:148451110A>G c.183A>G c.(181-183)caA>caG p.Q61Q LIHC 7 148456419 148456422 + Frame_Shift_Del DEL CTGT CTGT - TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr7:148456419_148456422delCTGT c.507_510delCTGT c.(505-510)gactgtfs p.DC169fs LIHC 7 148484107 148484108 + Missense_Mutation DNP CA CA TG TCGA-ZP-A9D1-01A-11D-A382-10 TCGA-ZP-A9D1-10B-01D-A385-10 g.chr7:148484107_148484108CA>TG c.1374_1375CA>TG c.(1372-1377)gaCAaa>gaTGaa p.K459E LUAD 7 148427226 148427226 + Silent SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr7:148427226C>G c.12C>G c.(10-12)acC>acG p.T4T LUAD 7 148427288 148427288 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr7:148427288G>T c.74G>T c.(73-75)aGa>aTa p.R25I LUAD 7 148454127 148454127 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr7:148454127G>T c.368G>T c.(367-369)tGg>tTg p.W123L LUAD 7 148454128 148454128 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr7:148454128G>T c.369G>T c.(367-369)tgG>tgT p.W123C LUAD 7 148456413 148456413 + Missense_Mutation SNP G G C TCGA-86-8278-01A-11D-2284-08 TCGA-86-8278-10A-01D-2284-08 g.chr7:148456413G>C c.501G>C c.(499-501)tgG>tgC p.W167C LUAD 7 148463701 148463701 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 g.chr7:148463701C>T c.838C>T c.(838-840)Cat>Tat p.H280Y LUAD 7 148464720 148464720 + Missense_Mutation SNP G G T TCGA-55-8301-01A-11D-2284-08 TCGA-55-8301-10A-01D-2284-08 g.chr7:148464720G>T c.962G>T c.(961-963)cGc>cTc p.R321L LUAD 7 148481085 148481085 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 g.chr7:148481085A>G c.1214A>G c.(1213-1215)aAc>aGc p.N405S LUAD 7 148481087 148481087 + Missense_Mutation SNP A A C TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr7:148481087A>C c.1216A>C c.(1216-1218)Aac>Cac p.N406H LUAD 7 148484115 148484115 + Missense_Mutation SNP T T G TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr7:148484115T>G c.1382T>G c.(1381-1383)gTa>gGa p.V461G LUAD 7 148484122 148484122 + Missense_Mutation SNP G G C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr7:148484122G>C c.1389G>C c.(1387-1389)caG>caC p.Q463H LUAD 7 148486887 148486887 + Missense_Mutation SNP A A C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr7:148486887A>C c.1643A>C c.(1642-1644)cAg>cCg p.Q548P LUAD 7 148496380 148496380 + Missense_Mutation SNP G G C TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr7:148496380G>C c.2150G>C c.(2149-2151)aGa>aCa p.R717T LUAD 7 148497609 148497609 + Missense_Mutation SNP C C G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 g.chr7:148497609C>G c.2266C>G c.(2266-2268)Cta>Gta p.L756V LUAD 7 148497615 148497615 + Missense_Mutation SNP G G C TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr7:148497615G>C c.2272G>C c.(2272-2274)Gag>Cag p.E758Q LUSC 7 148457552 148457552 + Missense_Mutation SNP C C A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 g.chr7:148457552C>A c.753C>A c.(751-753)ttC>ttA p.F251L LUSC 7 148463729 148463729 + Missense_Mutation SNP G G A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 g.chr7:148463729G>A c.866G>A c.(865-867)aGg>aAg p.R289K LUSC 7 148484186 148484186 + Missense_Mutation SNP G G A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chr7:148484186G>A c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K LUSC 7 148485762 148485762 + Silent SNP A A G TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 g.chr7:148485762A>G c.1593A>G c.(1591-1593)ctA>ctG p.L531L LUSC 7 148495745 148495745 + Missense_Mutation SNP G G T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 g.chr7:148495745G>T c.2112G>T c.(2110-2112)gaG>gaT p.E704D OV 7 148484102 148484102 + Missense_Mutation SNP G G C TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 g.chr7:148484102G>C c.1369G>C c.(1369-1371)Gaa>Caa p.E457Q OV 7 148486911 148486911 + Missense_Mutation SNP C C T TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 g.chr7:148486911C>T c.1667C>T c.(1666-1668)cCg>cTg p.P556L PAAD 7 148427298 148427298 + Silent SNP C C A TCGA-FB-AAQ2-01A-31D-A40W-08 TCGA-FB-AAQ2-11A-11D-A40W-08 g.chr7:148427298C>A c.84C>A c.(82-84)atC>atA p.I28I PAAD 7 148454093 148454093 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:148454093G>A c.334G>A c.(334-336)Gat>Aat p.D112N PAAD 7 148457512 148457512 + Missense_Mutation SNP C C T TCGA-S4-A8RO-01A-12D-A377-08 TCGA-S4-A8RO-10A-01D-A37A-08 g.chr7:148457512C>T c.713C>T c.(712-714)gCt>gTt p.A238V PAAD 7 148457556 148457556 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chr7:148457556C>G c.757C>G c.(757-759)Cag>Gag p.Q253E PAAD 7 148484186 148484186 + Missense_Mutation SNP G G A TCGA-IB-A7M4-01A-11D-A36O-08 TCGA-IB-A7M4-10A-01D-A367-08 g.chr7:148484186G>A c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K PCPG 7 148427298 148427298 + Missense_Mutation SNP C C G TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 g.chr7:148427298C>G c.84C>G c.(82-84)atC>atG p.I28M PRAD 7 148427245 148427245 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:148427245G>A c.31G>A c.(31-33)Ggc>Agc p.G11S PRAD 7 148457470 148457470 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:148457470C>T c.671C>T c.(670-672)aCg>aTg p.T224M READ 7 148451114 148451114 + Nonsense_Mutation SNP C C T TCGA-AG-3611-01A-01W-0833-10 TCGA-AG-3611-10A-01W-0833-10 g.chr7:148451114C>T c.187C>T c.(187-189)Cga>Tga p.R63* READ 7 148496426 148496426 + Silent SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:148496426C>T c.2196C>T c.(2194-2196)ggC>ggT p.G732G SARC 7 148463663 148463663 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr7:148463663G>A c.800G>A c.(799-801)cGt>cAt p.R267H SARC 7 148489822 148489822 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr7:148489822C>T c.1811C>T c.(1810-1812)tCg>tTg p.S604L SARC 7 148494904 148494904 + Splice_Site SNP G G C TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 g.chr7:148494904G>C c.1900G>C c.(1900-1902)Gac>Cac p.D634H SKCM 7 148427274 148427274 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr7:148427274C>T c.60C>T c.(58-60)atC>atT p.I20I SKCM 7 148484200 148484200 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr7:148484200C>T c.1467C>T c.(1465-1467)atC>atT p.I489I SKCM 7 148486871 148486871 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr7:148486871G>A c.1627G>A c.(1627-1629)Ggg>Agg p.G543R SKCM 7 148495081 148495081 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr7:148495081C>T c.2000C>T c.(1999-2001)aCc>aTc p.T667I SKCM 7 148496393 148496393 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr7:148496393G>A c.2163G>A c.(2161-2163)atG>atA p.M721I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 7 148456415 148456415 single base substitution G C missense_variant R168T 503G>C BLCA-CN 7 148463719 148463719 single base substitution G A missense_variant E286K 856G>A BLCA-US 7 148427336 148427336 single base substitution G A missense_variant R41K 122G>A BLCA-US 7 148457547 148457547 single base substitution G T stop_gained E250* 748G>T BLCA-US 7 148463737 148463737 single base substitution G A missense_variant E292K 874G>A BLCA-US 7 148481129 148481129 single base substitution G A missense_variant E420K 1258G>A BLCA-US 7 148484180 148484180 single base substitution G A missense_variant D483N 1447G>A BLCA-US 7 148484186 148484186 single base substitution G A missense_variant E485K 1453G>A BLCA-US 7 148487405 148487405 single base substitution G A missense_variant E560K 1678G>A BOCA-FR 7 148419487 148419487 single base substitution G A intron_variant BRCA-EU 7 148390930 148390930 single base substitution G C upstream_gene_variant BRCA-EU 7 148390967 148390967 single base substitution C T upstream_gene_variant BRCA-EU 7 148390976 148390976 single base substitution G C upstream_gene_variant BRCA-EU 7 148391932 148391932 single base substitution A T upstream_gene_variant BRCA-EU 7 148392275 148392275 single base substitution A G upstream_gene_variant BRCA-EU 7 148392401 148392401 single base substitution G A upstream_gene_variant BRCA-EU 7 148392830 148392830 single base substitution G A upstream_gene_variant BRCA-EU 7 148393847 148393847 single base substitution C T upstream_gene_variant BRCA-EU 7 148393865 148393865 single base substitution G C upstream_gene_variant BRCA-EU 7 148394408 148394408 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 148394468 148394468 single base substitution A G upstream_gene_variant BRCA-EU 7 148394489 148394489 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 148395563 148395563 single base substitution C G intron_variant BRCA-EU 7 148395563 148395563 single base substitution C G upstream_gene_variant BRCA-EU 7 148395993 148395993 single base substitution C T intron_variant BRCA-EU 7 148395993 148395993 single base substitution C T upstream_gene_variant BRCA-EU 7 148397071 148397071 single base substitution A G intron_variant BRCA-EU 7 148397358 148397358 single base substitution A C intron_variant BRCA-EU 7 148398063 148398063 single base substitution G C intron_variant BRCA-EU 7 148399364 148399364 single base substitution G A intron_variant BRCA-EU 7 148400096 148400096 single base substitution G C intron_variant BRCA-EU 7 148400109 148400109 single base substitution G C intron_variant BRCA-EU 7 148401499 148401499 single base substitution C A intron_variant BRCA-EU 7 148403097 148403097 single base substitution C G intron_variant BRCA-EU 7 148404017 148404017 single base substitution C T intron_variant BRCA-EU 7 148404332 148404332 single base substitution G A intron_variant BRCA-EU 7 148404777 148404777 single base substitution C T intron_variant BRCA-EU 7 148405749 148405749 deletion of <=200bp A - intron_variant BRCA-EU 7 148406901 148406901 single base substitution C G intron_variant BRCA-EU 7 148407081 148407081 deletion of <=200bp G - intron_variant BRCA-EU 7 148407350 148407350 single base substitution C T intron_variant BRCA-EU 7 148409300 148409300 single base substitution C G intron_variant BRCA-EU 7 148410469 148410469 single base substitution A G intron_variant BRCA-EU 7 148410656 148410656 single base substitution C T intron_variant BRCA-EU 7 148412899 148412899 single base substitution C G intron_variant BRCA-EU 7 148414637 148414637 single base substitution T G intron_variant BRCA-EU 7 148415527 148415527 single base substitution A G intron_variant BRCA-EU 7 148415892 148415892 single base substitution A C intron_variant BRCA-EU 7 148416001 148416001 single base substitution G C intron_variant BRCA-EU 7 148417541 148417541 single base substitution C G intron_variant BRCA-EU 7 148418833 148418833 single base substitution G C intron_variant BRCA-EU 7 148419161 148419161 single base substitution A G intron_variant BRCA-EU 7 148419893 148419893 single base substitution A G intron_variant BRCA-EU 7 148420575 148420575 single base substitution T A intron_variant BRCA-EU 7 148421053 148421053 single base substitution T C intron_variant BRCA-EU 7 148422791 148422791 single base substitution C G intron_variant BRCA-EU 7 148422842 148422842 single base substitution G A intron_variant BRCA-EU 7 148423795 148423795 single base substitution G C intron_variant BRCA-EU 7 148424800 148424800 single base substitution C G intron_variant BRCA-EU 7 148424819 148424819 single base substitution G T intron_variant BRCA-EU 7 148425675 148425675 single base substitution G C intron_variant BRCA-EU 7 148425702 148425702 single base substitution G A intron_variant BRCA-EU 7 148426608 148426608 single base substitution C A intron_variant BRCA-EU 7 148426913 148426913 single base substitution G A intron_variant BRCA-EU 7 148428963 148428963 single base substitution C A intron_variant BRCA-EU 7 148428971 148428971 single base substitution C T intron_variant BRCA-EU 7 148429647 148429647 single base substitution G C intron_variant BRCA-EU 7 148429937 148429937 deletion of <=200bp T - intron_variant BRCA-EU 7 148430945 148430945 single base substitution G A intron_variant BRCA-EU 7 148431114 148431114 single base substitution G C intron_variant BRCA-EU 7 148432378 148432378 single base substitution C T intron_variant BRCA-EU 7 148432540 148432540 single base substitution C G intron_variant BRCA-EU 7 148432850 148432850 insertion of <=200bp - GT intron_variant BRCA-EU 7 148433049 148433049 single base substitution G C intron_variant BRCA-EU 7 148433501 148433501 deletion of <=200bp C - intron_variant BRCA-EU 7 148434141 148434141 single base substitution T A intron_variant BRCA-EU 7 148435054 148435054 single base substitution G A intron_variant BRCA-EU 7 148435449 148435449 single base substitution G C intron_variant BRCA-EU 7 148436118 148436118 single base substitution T A intron_variant BRCA-EU 7 148436153 148436153 single base substitution C T intron_variant BRCA-EU 7 148436410 148436410 single base substitution G C intron_variant BRCA-EU 7 148439772 148439772 single base substitution C T intron_variant BRCA-EU 7 148441831 148441831 single base substitution G T intron_variant BRCA-EU 7 148443884 148443884 single base substitution C G intron_variant BRCA-EU 7 148444247 148444247 single base substitution A C intron_variant BRCA-EU 7 148444649 148444649 single base substitution G A intron_variant BRCA-EU 7 148445231 148445231 single base substitution A C intron_variant BRCA-EU 7 148446329 148446329 single base substitution A T intron_variant BRCA-EU 7 148449204 148449204 insertion of <=200bp - A intron_variant BRCA-EU 7 148450021 148450021 single base substitution G T intron_variant BRCA-EU 7 148450194 148450194 single base substitution G C intron_variant BRCA-EU 7 148450936 148450936 single base substitution T A intron_variant BRCA-EU 7 148451314 148451314 single base substitution G T intron_variant BRCA-EU 7 148451589 148451589 single base substitution A T intron_variant BRCA-EU 7 148452730 148452730 single base substitution A G intron_variant BRCA-EU 7 148453584 148453584 single base substitution C T intron_variant BRCA-EU 7 148453626 148453626 single base substitution A G intron_variant BRCA-EU 7 148453731 148453731 deletion of <=200bp T - intron_variant BRCA-EU 7 148454096 148454096 single base substitution G C missense_variant E113Q 337G>C BRCA-EU 7 148454288 148454288 insertion of <=200bp - T intron_variant BRCA-EU 7 148454399 148454399 deletion of <=200bp T - intron_variant BRCA-EU 7 148455392 148455392 single base substitution A G intron_variant BRCA-EU 7 148456107 148456107 single base substitution A T intron_variant BRCA-EU 7 148457006 148457006 single base substitution G C intron_variant BRCA-EU 7 148457969 148457969 single base substitution C G intron_variant BRCA-EU 7 148458326 148458326 single base substitution G A intron_variant BRCA-EU 7 148459053 148459053 single base substitution G A intron_variant BRCA-EU 7 148461289 148461289 single base substitution T A intron_variant BRCA-EU 7 148461583 148461583 single base substitution C G intron_variant BRCA-EU 7 148461659 148461659 single base substitution C T intron_variant BRCA-EU 7 148462558 148462558 single base substitution G C intron_variant BRCA-EU 7 148462830 148462830 single base substitution T G intron_variant BRCA-EU 7 148463457 148463457 single base substitution A G intron_variant BRCA-EU 7 148464294 148464294 single base substitution G C intron_variant BRCA-EU 7 148465991 148465991 single base substitution A C intron_variant BRCA-EU 7 148466167 148466167 single base substitution G C intron_variant BRCA-EU 7 148467375 148467375 single base substitution G A intron_variant BRCA-EU 7 148467483 148467483 deletion of <=200bp T - intron_variant BRCA-EU 7 148467796 148467796 single base substitution G A intron_variant BRCA-EU 7 148468177 148468177 deletion of <=200bp T - intron_variant BRCA-EU 7 148468290 148468290 deletion of <=200bp A - intron_variant BRCA-EU 7 148468325 148468325 single base substitution C T intron_variant BRCA-EU 7 148468691 148468691 single base substitution T C intron_variant BRCA-EU 7 148470344 148470344 single base substitution C A intron_variant BRCA-EU 7 148470413 148470413 single base substitution T A intron_variant BRCA-EU 7 148473294 148473294 single base substitution T G intron_variant BRCA-EU 7 148473534 148473534 single base substitution G C intron_variant BRCA-EU 7 148473684 148473684 single base substitution C G intron_variant BRCA-EU 7 148474728 148474728 insertion of <=200bp - TG intron_variant BRCA-EU 7 148476559 148476559 single base substitution G C intron_variant BRCA-EU 7 148477389 148477389 single base substitution G A intron_variant BRCA-EU 7 148477865 148477865 single base substitution G C intron_variant BRCA-EU 7 148478109 148478109 single base substitution G C intron_variant BRCA-EU 7 148478406 148478406 single base substitution G A intron_variant BRCA-EU 7 148478451 148478451 single base substitution G A intron_variant BRCA-EU 7 148480679 148480679 single base substitution T C intron_variant BRCA-EU 7 148481443 148481443 single base substitution G A intron_variant BRCA-EU 7 148482243 148482243 deletion of <=200bp T - intron_variant BRCA-EU 7 148482759 148482759 single base substitution G C intron_variant BRCA-EU 7 148483320 148483320 single base substitution G C intron_variant BRCA-EU 7 148483435 148483435 insertion of <=200bp - TGAC intron_variant BRCA-EU 7 148483549 148483549 single base substitution G A intron_variant BRCA-EU 7 148483656 148483656 single base substitution G C missense_variant E438Q 1312G>C BRCA-EU 7 148483674 148483674 single base substitution G A missense_variant D444N 1330G>A BRCA-EU 7 148485810 148485810 single base substitution C T intron_variant BRCA-EU 7 148485943 148485943 single base substitution G A intron_variant BRCA-EU 7 148487097 148487097 single base substitution T A intron_variant BRCA-EU 7 148487445 148487445 single base substitution G A missense_variant R573H 1718G>A BRCA-EU 7 148489077 148489077 single base substitution G A intron_variant BRCA-EU 7 148491355 148491355 single base substitution T A intron_variant BRCA-EU 7 148493477 148493477 single base substitution T C intron_variant BRCA-EU 7 148493980 148493980 single base substitution G C intron_variant BRCA-EU 7 148496020 148496020 single base substitution G A intron_variant BRCA-EU 7 148496077 148496077 single base substitution G C intron_variant BRCA-EU 7 148496097 148496097 deletion of <=200bp T - intron_variant BRCA-EU 7 148496452 148496452 single base substitution G C missense_variant R741T 2222G>C BRCA-EU 7 148497008 148497008 single base substitution G A intron_variant BRCA-EU 7 148497263 148497263 single base substitution G C intron_variant BRCA-EU 7 148497515 148497515 single base substitution G A intron_variant BRCA-EU 7 148498584 148498584 single base substitution G C downstream_gene_variant BRCA-EU 7 148499187 148499187 single base substitution C T downstream_gene_variant BRCA-EU 7 148501082 148501082 single base substitution C T downstream_gene_variant BRCA-EU 7 148501821 148501821 single base substitution C G downstream_gene_variant BRCA-EU 7 148501860 148501860 single base substitution G C downstream_gene_variant BRCA-EU 7 148503100 148503100 single base substitution C T downstream_gene_variant BRCA-FR 7 148390427 148390427 single base substitution G A upstream_gene_variant BRCA-FR 7 148390976 148390976 single base substitution G C upstream_gene_variant BRCA-FR 7 148395993 148395993 single base substitution C T intron_variant BRCA-FR 7 148395993 148395993 single base substitution C T upstream_gene_variant BRCA-FR 7 148402249 148402249 single base substitution T G intron_variant BRCA-FR 7 148409300 148409300 single base substitution C G intron_variant BRCA-FR 7 148416001 148416001 single base substitution G C intron_variant BRCA-FR 7 148428008 148428008 single base substitution A G intron_variant BRCA-FR 7 148433049 148433049 single base substitution G C intron_variant BRCA-FR 7 148434650 148434650 single base substitution G A intron_variant BRCA-FR 7 148435449 148435449 single base substitution G C intron_variant BRCA-FR 7 148436153 148436153 single base substitution C T intron_variant BRCA-FR 7 148436410 148436410 single base substitution G C intron_variant BRCA-FR 7 148444247 148444247 single base substitution A C intron_variant BRCA-FR 7 148451314 148451314 single base substitution G T intron_variant BRCA-FR 7 148459053 148459053 single base substitution G A intron_variant BRCA-FR 7 148461583 148461583 single base substitution C G intron_variant BRCA-FR 7 148462558 148462558 single base substitution G C intron_variant BRCA-FR 7 148463457 148463457 single base substitution A G intron_variant BRCA-FR 7 148464294 148464294 single base substitution G C intron_variant BRCA-FR 7 148465991 148465991 single base substitution A C intron_variant BRCA-FR 7 148487445 148487445 single base substitution G A missense_variant R573H 1718G>A BRCA-FR 7 148493980 148493980 single base substitution G C intron_variant BRCA-FR 7 148496077 148496077 single base substitution G C intron_variant BRCA-FR 7 148496452 148496452 single base substitution G C missense_variant R741T 2222G>C BRCA-FR 7 148498584 148498584 single base substitution G C downstream_gene_variant BRCA-FR 7 148501860 148501860 single base substitution G C downstream_gene_variant BRCA-UK 7 148390930 148390930 single base substitution G C upstream_gene_variant BRCA-UK 7 148392401 148392401 single base substitution G A upstream_gene_variant BRCA-UK 7 148415824 148415824 single base substitution T G intron_variant BRCA-UK 7 148419308 148419308 single base substitution C T intron_variant BRCA-UK 7 148451198 148451198 single base substitution C T stop_gained R91* 271C>T BRCA-UK 7 148473797 148473797 single base substitution G C intron_variant BRCA-UK 7 148495727 148495727 single base substitution C G synonymous_variant T698T 2094C>G BRCA-US 7 148454195 148454195 single base substitution C T missense_variant R146C 436C>T BRCA-US 7 148457520 148457520 single base substitution G C missense_variant E241Q 721G>C BRCA-US 7 148463718 148463718 single base substitution T C synonymous_variant D285D 855T>C BTCA-JP 7 148456368 148456368 single base substitution T C intron_variant BTCA-JP 7 148464891 148464891 single base substitution G A intron_variant CESC-US 7 148454089 148454089 single base substitution G A synonymous_variant L110L 330G>A CESC-US 7 148457536 148457536 single base substitution G C missense_variant R246T 737G>C CESC-US 7 148483659 148483659 single base substitution G A missense_variant E439K 1315G>A CESC-US 7 148484149 148484149 single base substitution G A synonymous_variant K472K 1416G>A CESC-US 7 148484186 148484186 single base substitution G A missense_variant E485K 1453G>A CESC-US 7 148487457 148487457 single base substitution G A missense_variant R577Q 1730G>A CESC-US 7 148495070 148495070 single base substitution G A synonymous_variant L663L 1989G>A CLLE-ES 7 148391070 148391070 single base substitution T C upstream_gene_variant CLLE-ES 7 148431463 148431463 single base substitution G C intron_variant CLLE-ES 7 148465277 148465277 single base substitution C G intron_variant CLLE-ES 7 148498788 148498788 single base substitution T C downstream_gene_variant COAD-US 7 148454196 148454196 single base substitution G A missense_variant R146H 437G>A COAD-US 7 148457556 148457556 single base substitution C T stop_gained Q253* 757C>T COAD-US 7 148483678 148483681 deletion of <=200bp CACT - frameshift_variant TL445 COAD-US 7 148494941 148494941 single base substitution C T missense_variant S646L 1937C>T COAD-US 7 148496415 148496415 single base substitution C T stop_gained Q729* 2185C>T COAD-US 7 148496427 148496427 single base substitution G A missense_variant E733K 2197G>A COCA-CN 7 148396153 148396153 single base substitution A T intron_variant COCA-CN 7 148398300 148398300 single base substitution G C intron_variant COCA-CN 7 148413616 148413616 single base substitution G A intron_variant COCA-CN 7 148414110 148414110 single base substitution A G intron_variant COCA-CN 7 148438812 148438812 single base substitution C T intron_variant COCA-CN 7 148458256 148458256 single base substitution G A intron_variant COCA-CN 7 148464719 148464719 single base substitution C T missense_variant R321C 961C>T COCA-CN 7 148464912 148464912 single base substitution C T intron_variant COCA-CN 7 148479671 148479671 single base substitution A G intron_variant COCA-CN 7 148480233 148480233 single base substitution C T intron_variant COCA-CN 7 148481072 148481072 single base substitution C T missense_variant R401C 1201C>T COCA-CN 7 148481297 148481297 single base substitution T G intron_variant COCA-CN 7 148481310 148481310 single base substitution T G intron_variant COCA-CN 7 148489951 148489951 single base substitution T G intron_variant COCA-CN 7 148494848 148494848 single base substitution A T intron_variant COCA-CN 7 148494890 148494890 single base substitution C A intron_variant COCA-CN 7 148495742 148495742 single base substitution C T synonymous_variant I703I 2109C>T COCA-CN 7 148501462 148501462 single base substitution G A downstream_gene_variant ESAD-UK 7 148392034 148392034 single base substitution T C upstream_gene_variant ESAD-UK 7 148392838 148392838 single base substitution C T upstream_gene_variant ESAD-UK 7 148392851 148392851 single base substitution C T upstream_gene_variant ESAD-UK 7 148398612 148398612 deletion of <=200bp T - intron_variant ESAD-UK 7 148402250 148402250 single base substitution A G intron_variant ESAD-UK 7 148405150 148405150 single base substitution T G intron_variant ESAD-UK 7 148410113 148410113 single base substitution G A intron_variant ESAD-UK 7 148410855 148410855 single base substitution G A intron_variant ESAD-UK 7 148411192 148411192 single base substitution T C intron_variant ESAD-UK 7 148413352 148413352 single base substitution G T intron_variant ESAD-UK 7 148413846 148413846 deletion of <=200bp T - intron_variant ESAD-UK 7 148413873 148413873 single base substitution C T intron_variant ESAD-UK 7 148414242 148414242 single base substitution C T intron_variant ESAD-UK 7 148418180 148418180 single base substitution C T intron_variant ESAD-UK 7 148420841 148420841 single base substitution A T intron_variant ESAD-UK 7 148429674 148429674 single base substitution C T intron_variant ESAD-UK 7 148429905 148429905 insertion of <=200bp - T intron_variant ESAD-UK 7 148430533 148430533 single base substitution C T intron_variant ESAD-UK 7 148430950 148430950 insertion of <=200bp - T intron_variant ESAD-UK 7 148434666 148434666 single base substitution T A intron_variant ESAD-UK 7 148439133 148439133 single base substitution C T intron_variant ESAD-UK 7 148440638 148440638 single base substitution G A intron_variant ESAD-UK 7 148441114 148441114 insertion of <=200bp - T intron_variant ESAD-UK 7 148441719 148441719 single base substitution T A intron_variant ESAD-UK 7 148444816 148444816 single base substitution A G intron_variant ESAD-UK 7 148446407 148446407 single base substitution G A intron_variant ESAD-UK 7 148449347 148449347 single base substitution G T intron_variant ESAD-UK 7 148450082 148450082 single base substitution C T intron_variant ESAD-UK 7 148451535 148451535 single base substitution G A intron_variant ESAD-UK 7 148452216 148452216 single base substitution T A intron_variant ESAD-UK 7 148455011 148455011 single base substitution G A intron_variant ESAD-UK 7 148456336 148456336 single base substitution G T intron_variant ESAD-UK 7 148457394 148457394 single base substitution T C intron_variant ESAD-UK 7 148458999 148458999 single base substitution C T intron_variant ESAD-UK 7 148461978 148461978 single base substitution G A intron_variant ESAD-UK 7 148462726 148462726 insertion of <=200bp - A intron_variant ESAD-UK 7 148463936 148463936 single base substitution A G intron_variant ESAD-UK 7 148465194 148465194 single base substitution A G intron_variant ESAD-UK 7 148465669 148465669 single base substitution G T intron_variant ESAD-UK 7 148467434 148467434 single base substitution C T intron_variant ESAD-UK 7 148468177 148468177 deletion of <=200bp T - intron_variant ESAD-UK 7 148468550 148468550 single base substitution C T intron_variant ESAD-UK 7 148474599 148474599 single base substitution T G intron_variant ESAD-UK 7 148475741 148475741 single base substitution A G intron_variant ESAD-UK 7 148476542 148476542 single base substitution G A intron_variant ESAD-UK 7 148476560 148476560 single base substitution A G intron_variant ESAD-UK 7 148482671 148482671 single base substitution G A intron_variant ESAD-UK 7 148485175 148485175 single base substitution T C intron_variant ESAD-UK 7 148486911 148486911 single base substitution C T missense_variant P556L 1667C>T ESAD-UK 7 148494918 148494918 single base substitution A C missense_variant Q638H 1914A>C ESAD-UK 7 148496097 148496097 deletion of <=200bp T - intron_variant ESAD-UK 7 148496724 148496724 single base substitution G T intron_variant ESAD-UK 7 148502243 148502243 single base substitution A G downstream_gene_variant ESCA-CN 7 148456701 148456701 single base substitution G C missense_variant R199T 596G>C ESCA-CN 7 148484099 148484099 single base substitution A G missense_variant I456V 1366A>G ESCA-CN 7 148484186 148484186 single base substitution G A missense_variant E485K 1453G>A GBM-US 7 148457457 148457457 single base substitution G A missense_variant A220T 658G>A GBM-US 7 148484161 148484161 single base substitution C G missense_variant H476Q 1428C>G KIRC-US 7 148454216 148454216 single base substitution C T stop_gained R153* 457C>T KIRC-US 7 148485659 148485659 single base substitution G A missense_variant G497E 1490G>A KIRC-US 7 148486899 148486899 deletion of <=200bp C - frameshift_variant T552 KIRP-US 7 148495672 148495672 single base substitution T C missense_variant L680S 2039T>C KIRP-US 7 148496376 148496376 single base substitution G A missense_variant V716M 2146G>A LAML-KR 7 148438812 148438812 single base substitution C T intron_variant LGG-US 7 148451085 148451085 single base substitution G A missense_variant C53Y 158G>A LICA-CN 7 148451144 148451144 single base substitution A G missense_variant K73E 217A>G LICA-FR 7 148391533 148391533 single base substitution A G upstream_gene_variant LICA-FR 7 148397658 148397658 single base substitution A G intron_variant LICA-FR 7 148404554 148404554 single base substitution G T intron_variant LICA-FR 7 148409509 148409509 single base substitution C T intron_variant LICA-FR 7 148420341 148420341 single base substitution A C intron_variant LICA-FR 7 148423926 148423926 insertion of <=200bp - AA intron_variant LICA-FR 7 148428320 148428320 single base substitution A G intron_variant LICA-FR 7 148430373 148430373 single base substitution C G intron_variant LICA-FR 7 148434727 148434727 single base substitution C G intron_variant LICA-FR 7 148439779 148439779 single base substitution T A intron_variant LICA-FR 7 148454288 148454288 insertion of <=200bp - T intron_variant LICA-FR 7 148464767 148464767 deletion of <=200bp A - frameshift_variant K337 LICA-FR 7 148476132 148476132 single base substitution C T intron_variant LICA-FR 7 148481130 148481130 single base substitution A T missense_variant E420V 1259A>T LICA-FR 7 148484242 148484242 single base substitution A T intron_variant LICA-FR 7 148493776 148493776 single base substitution T C intron_variant LICA-FR 7 148494488 148494488 insertion of <=200bp - A intron_variant LICA-FR 7 148494795 148494798 deletion of <=200bp TTTT - intron_variant LICA-FR 7 148495096 148495096 single base substitution A G missense_variant Y672C 2015A>G LIHC-US 7 148451110 148451110 single base substitution A G synonymous_variant Q61Q 183A>G LIHC-US 7 148456419 148456422 deletion of <=200bp CTGT - frameshift_variant DC169 LINC-JP 7 148390372 148390372 single base substitution G A upstream_gene_variant LINC-JP 7 148391394 148391394 single base substitution A G upstream_gene_variant LINC-JP 7 148397596 148397596 single base substitution A G intron_variant LINC-JP 7 148434650 148434650 single base substitution G A intron_variant LINC-JP 7 148454131 148454131 single base substitution A C missense_variant E124D 372A>C LINC-JP 7 148457666 148457666 single base substitution A G intron_variant LINC-JP 7 148462479 148462479 single base substitution T A intron_variant LINC-JP 7 148475419 148475419 single base substitution A G intron_variant LINC-JP 7 148477433 148477433 single base substitution A G intron_variant LINC-JP 7 148482298 148482298 single base substitution T C intron_variant LINC-JP 7 148485162 148485162 single base substitution G T intron_variant LINC-JP 7 148487290 148487290 single base substitution A G intron_variant LINC-JP 7 148490001 148490001 single base substitution C T intron_variant LINC-JP 7 148490463 148490463 single base substitution T C intron_variant LINC-JP 7 148495804 148495804 single base substitution T G intron_variant LINC-JP 7 148496308 148496308 single base substitution A G intron_variant LINC-JP 7 148502535 148502535 single base substitution T G downstream_gene_variant LIRI-JP 7 148390316 148390316 single base substitution G A upstream_gene_variant LIRI-JP 7 148390867 148390867 single base substitution G A upstream_gene_variant LIRI-JP 7 148391379 148391379 single base substitution T C upstream_gene_variant LIRI-JP 7 148392438 148392438 single base substitution C A upstream_gene_variant LIRI-JP 7 148393019 148393019 single base substitution T A upstream_gene_variant LIRI-JP 7 148393833 148393833 single base substitution T C upstream_gene_variant LIRI-JP 7 148393939 148393953 deletion of <=200bp AAGGTTATCTGCGCA - upstream_gene_variant LIRI-JP 7 148396777 148396777 single base substitution T A intron_variant LIRI-JP 7 148397260 148397260 single base substitution A G intron_variant LIRI-JP 7 148397304 148397304 single base substitution A C intron_variant LIRI-JP 7 148397472 148397472 insertion of <=200bp - C intron_variant LIRI-JP 7 148398057 148398057 single base substitution A G intron_variant LIRI-JP 7 148398345 148398345 single base substitution T C intron_variant LIRI-JP 7 148399966 148399966 single base substitution G T intron_variant LIRI-JP 7 148401039 148401039 single base substitution T G intron_variant LIRI-JP 7 148401366 148401366 single base substitution A C intron_variant LIRI-JP 7 148402032 148402032 single base substitution G A intron_variant LIRI-JP 7 148403858 148403858 single base substitution A T intron_variant LIRI-JP 7 148404745 148404745 single base substitution C G intron_variant LIRI-JP 7 148406710 148406710 single base substitution C G intron_variant LIRI-JP 7 148406989 148406989 single base substitution A G intron_variant LIRI-JP 7 148407493 148407493 single base substitution C G intron_variant LIRI-JP 7 148410422 148410422 single base substitution A G intron_variant LIRI-JP 7 148413313 148413313 single base substitution A G intron_variant LIRI-JP 7 148414215 148414215 single base substitution G A intron_variant LIRI-JP 7 148416266 148416266 single base substitution G A intron_variant LIRI-JP 7 148417114 148417114 single base substitution A G intron_variant LIRI-JP 7 148417897 148417897 single base substitution A G intron_variant LIRI-JP 7 148418198 148418198 single base substitution A T intron_variant LIRI-JP 7 148421334 148421334 single base substitution T C intron_variant LIRI-JP 7 148425076 148425076 single base substitution G T intron_variant LIRI-JP 7 148425835 148425835 single base substitution A G intron_variant LIRI-JP 7 148426071 148426071 single base substitution A G intron_variant LIRI-JP 7 148426446 148426446 single base substitution A T intron_variant LIRI-JP 7 148427423 148427423 single base substitution A G intron_variant LIRI-JP 7 148428143 148428143 single base substitution A G intron_variant LIRI-JP 7 148428706 148428706 single base substitution A G intron_variant LIRI-JP 7 148431325 148431325 single base substitution A G intron_variant LIRI-JP 7 148431475 148431475 single base substitution A G intron_variant LIRI-JP 7 148432349 148432349 single base substitution T G intron_variant LIRI-JP 7 148434837 148434837 single base substitution T G intron_variant LIRI-JP 7 148434989 148434989 single base substitution C A intron_variant LIRI-JP 7 148435411 148435411 single base substitution T G intron_variant LIRI-JP 7 148436130 148436130 single base substitution G A intron_variant LIRI-JP 7 148439183 148439183 single base substitution A G intron_variant LIRI-JP 7 148439316 148439316 single base substitution T A intron_variant LIRI-JP 7 148439537 148439537 single base substitution G T intron_variant LIRI-JP 7 148439538 148439538 single base substitution C T intron_variant LIRI-JP 7 148440432 148440432 single base substitution C G intron_variant LIRI-JP 7 148442838 148442838 single base substitution A G intron_variant LIRI-JP 7 148444422 148444422 single base substitution A C intron_variant LIRI-JP 7 148445156 148445156 single base substitution A G intron_variant LIRI-JP 7 148445702 148445702 single base substitution A T intron_variant LIRI-JP 7 148447916 148447916 single base substitution A T intron_variant LIRI-JP 7 148448406 148448406 single base substitution G A intron_variant LIRI-JP 7 148449775 148449775 single base substitution C T intron_variant LIRI-JP 7 148450414 148450414 single base substitution G T intron_variant LIRI-JP 7 148451740 148451740 insertion of <=200bp - T intron_variant LIRI-JP 7 148451921 148451921 single base substitution C G intron_variant LIRI-JP 7 148451943 148451943 single base substitution A G intron_variant LIRI-JP 7 148452158 148452158 single base substitution C T intron_variant LIRI-JP 7 148453238 148453238 single base substitution A G intron_variant LIRI-JP 7 148456315 148456315 single base substitution G T intron_variant LIRI-JP 7 148456591 148456591 single base substitution A G intron_variant LIRI-JP 7 148458189 148458189 single base substitution G A intron_variant LIRI-JP 7 148458773 148458773 single base substitution C T intron_variant LIRI-JP 7 148459120 148459120 single base substitution G A intron_variant LIRI-JP 7 148461930 148461930 single base substitution C A intron_variant LIRI-JP 7 148463435 148463435 single base substitution C G intron_variant LIRI-JP 7 148466829 148466829 single base substitution A G intron_variant LIRI-JP 7 148469620 148469620 single base substitution A G intron_variant LIRI-JP 7 148469718 148469718 single base substitution C T intron_variant LIRI-JP 7 148470197 148470197 single base substitution A G intron_variant LIRI-JP 7 148470366 148470366 single base substitution A G intron_variant LIRI-JP 7 148471371 148471371 single base substitution C T intron_variant LIRI-JP 7 148472199 148472199 single base substitution G C intron_variant LIRI-JP 7 148473325 148473325 single base substitution G T intron_variant LIRI-JP 7 148474029 148474029 single base substitution A G intron_variant LIRI-JP 7 148474214 148474214 single base substitution A G intron_variant LIRI-JP 7 148476526 148476526 single base substitution C T intron_variant LIRI-JP 7 148479811 148479811 single base substitution A G intron_variant LIRI-JP 7 148480248 148480248 single base substitution A G intron_variant LIRI-JP 7 148480329 148480329 single base substitution C T intron_variant LIRI-JP 7 148480770 148480770 single base substitution A G intron_variant LIRI-JP 7 148481768 148481768 single base substitution A G intron_variant LIRI-JP 7 148490344 148490344 single base substitution A G intron_variant LIRI-JP 7 148490440 148490440 single base substitution A C intron_variant LIRI-JP 7 148491903 148491903 single base substitution A T intron_variant LIRI-JP 7 148492318 148492318 single base substitution G C intron_variant LIRI-JP 7 148492681 148492681 single base substitution A G intron_variant LIRI-JP 7 148493198 148493198 single base substitution T A intron_variant LIRI-JP 7 148495542 148495542 single base substitution A G intron_variant LIRI-JP 7 148495795 148495795 single base substitution G T intron_variant LIRI-JP 7 148499130 148499130 single base substitution A T downstream_gene_variant LIRI-JP 7 148499393 148499393 single base substitution C T downstream_gene_variant LIRI-JP 7 148500286 148500286 single base substitution T A downstream_gene_variant LUSC-KR 7 148390365 148390365 single base substitution A G upstream_gene_variant LUSC-KR 7 148391949 148391949 single base substitution G C upstream_gene_variant LUSC-KR 7 148401890 148401890 single base substitution C A intron_variant LUSC-KR 7 148413032 148413032 single base substitution G T intron_variant LUSC-KR 7 148414251 148414251 single base substitution C T intron_variant LUSC-KR 7 148417012 148417012 single base substitution C T intron_variant LUSC-KR 7 148418150 148418150 single base substitution A G intron_variant LUSC-KR 7 148418514 148418514 single base substitution A T intron_variant LUSC-KR 7 148424672 148424672 single base substitution G T intron_variant LUSC-KR 7 148425178 148425178 single base substitution G T intron_variant LUSC-KR 7 148428597 148428597 single base substitution A T intron_variant LUSC-KR 7 148429002 148429002 single base substitution C T intron_variant LUSC-KR 7 148429035 148429035 single base substitution C T intron_variant LUSC-KR 7 148431017 148431017 single base substitution G A intron_variant LUSC-KR 7 148434098 148434098 single base substitution T C intron_variant LUSC-KR 7 148439122 148439122 single base substitution G A intron_variant LUSC-KR 7 148441173 148441173 single base substitution A G intron_variant LUSC-KR 7 148446531 148446531 single base substitution A T intron_variant LUSC-KR 7 148447556 148447556 single base substitution G T intron_variant LUSC-KR 7 148451456 148451456 single base substitution T G intron_variant LUSC-KR 7 148454350 148454350 single base substitution G T intron_variant LUSC-KR 7 148459545 148459545 single base substitution G T intron_variant LUSC-KR 7 148467453 148467453 single base substitution C A intron_variant LUSC-KR 7 148467777 148467777 single base substitution G T intron_variant LUSC-KR 7 148472732 148472732 single base substitution A T intron_variant LUSC-KR 7 148473277 148473277 single base substitution C G intron_variant LUSC-KR 7 148473778 148473778 single base substitution C T intron_variant LUSC-KR 7 148474577 148474577 single base substitution C T intron_variant LUSC-KR 7 148477125 148477125 single base substitution G T intron_variant LUSC-KR 7 148479192 148479192 single base substitution A G intron_variant LUSC-KR 7 148480990 148480990 single base substitution C T splice_region_variant LUSC-KR 7 148486477 148486477 single base substitution G C intron_variant LUSC-KR 7 148489820 148489820 single base substitution G A splice_region_variant LUSC-KR 7 148490755 148490755 single base substitution G C intron_variant LUSC-KR 7 148492630 148492630 single base substitution G T intron_variant LUSC-KR 7 148492631 148492631 single base substitution G T intron_variant LUSC-KR 7 148494506 148494506 single base substitution T A intron_variant LUSC-KR 7 148500968 148500968 single base substitution C T downstream_gene_variant LUSC-US 7 148457552 148457552 single base substitution C A missense_variant F251L 753C>A LUSC-US 7 148463729 148463729 single base substitution G A missense_variant R289K 866G>A LUSC-US 7 148484186 148484186 single base substitution G A missense_variant E485K 1453G>A LUSC-US 7 148485762 148485762 single base substitution A G synonymous_variant L531L 1593A>G LUSC-US 7 148495745 148495745 single base substitution G T missense_variant E704D 2112G>T MALY-DE 7 148390181 148390181 single base substitution A G upstream_gene_variant MALY-DE 7 148410121 148410121 single base substitution A T intron_variant MALY-DE 7 148414123 148414135 deletion of <=200bp TTTTGTTTTTCAT - intron_variant MALY-DE 7 148414898 148414898 single base substitution T C intron_variant MALY-DE 7 148418812 148418812 single base substitution T C intron_variant MALY-DE 7 148426090 148426090 single base substitution T G intron_variant MALY-DE 7 148443103 148443103 single base substitution A C intron_variant MALY-DE 7 148462145 148462145 single base substitution A G intron_variant MALY-DE 7 148476521 148476521 single base substitution G T intron_variant MALY-DE 7 148480002 148480002 single base substitution C T intron_variant MALY-DE 7 148488270 148488270 insertion of <=200bp - A intron_variant MALY-DE 7 148499784 148499784 single base substitution G A downstream_gene_variant MELA-AU 7 148390821 148390821 single base substitution G A upstream_gene_variant MELA-AU 7 148390910 148390910 single base substitution G A upstream_gene_variant MELA-AU 7 148391581 148391581 single base substitution C T upstream_gene_variant MELA-AU 7 148392029 148392029 single base substitution G A upstream_gene_variant MELA-AU 7 148392117 148392117 single base substitution G A upstream_gene_variant MELA-AU 7 148392990 148392990 single base substitution C T upstream_gene_variant MELA-AU 7 148393288 148393288 single base substitution G T upstream_gene_variant MELA-AU 7 148393490 148393490 single base substitution G A upstream_gene_variant MELA-AU 7 148393815 148393815 single base substitution C T upstream_gene_variant MELA-AU 7 148394365 148394365 single base substitution G A upstream_gene_variant MELA-AU 7 148396950 148396950 single base substitution C T intron_variant MELA-AU 7 148397320 148397320 single base substitution G A intron_variant MELA-AU 7 148397385 148397385 single base substitution C G intron_variant MELA-AU 7 148397679 148397679 single base substitution C G intron_variant MELA-AU 7 148398559 148398559 single base substitution C T intron_variant MELA-AU 7 148399647 148399647 single base substitution T C intron_variant MELA-AU 7 148400332 148400332 single base substitution A G intron_variant MELA-AU 7 148400428 148400428 single base substitution A T intron_variant MELA-AU 7 148400734 148400734 single base substitution C T intron_variant MELA-AU 7 148401654 148401654 single base substitution C T intron_variant MELA-AU 7 148403341 148403341 single base substitution C T intron_variant MELA-AU 7 148404006 148404006 single base substitution G A intron_variant MELA-AU 7 148404719 148404719 single base substitution C T intron_variant MELA-AU 7 148405627 148405627 single base substitution C T intron_variant MELA-AU 7 148405757 148405757 single base substitution C T intron_variant MELA-AU 7 148406778 148406778 single base substitution T A intron_variant MELA-AU 7 148406941 148406941 single base substitution G A intron_variant MELA-AU 7 148407068 148407068 single base substitution G A intron_variant MELA-AU 7 148408661 148408661 single base substitution C T intron_variant MELA-AU 7 148409179 148409179 single base substitution T C intron_variant MELA-AU 7 148409268 148409268 single base substitution C T intron_variant MELA-AU 7 148409340 148409340 insertion of <=200bp - G intron_variant MELA-AU 7 148409442 148409442 single base substitution G A intron_variant MELA-AU 7 148410248 148410248 single base substitution C T intron_variant MELA-AU 7 148410492 148410492 single base substitution C T intron_variant MELA-AU 7 148410645 148410645 single base substitution T A intron_variant MELA-AU 7 148410696 148410696 single base substitution C T intron_variant MELA-AU 7 148411235 148411235 single base substitution G A intron_variant MELA-AU 7 148411462 148411462 single base substitution C T intron_variant MELA-AU 7 148412082 148412082 single base substitution C T intron_variant MELA-AU 7 148412457 148412457 single base substitution G A intron_variant MELA-AU 7 148412824 148412824 single base substitution C T intron_variant MELA-AU 7 148412824 148412825 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 148413000 148413000 single base substitution G C intron_variant MELA-AU 7 148413920 148413920 single base substitution G A intron_variant MELA-AU 7 148414135 148414135 single base substitution T G intron_variant MELA-AU 7 148414671 148414671 single base substitution T C intron_variant MELA-AU 7 148416077 148416077 single base substitution T C intron_variant MELA-AU 7 148417285 148417285 single base substitution C T intron_variant MELA-AU 7 148417717 148417717 single base substitution C T intron_variant MELA-AU 7 148418849 148418849 single base substitution T C intron_variant MELA-AU 7 148419899 148419899 single base substitution C T intron_variant MELA-AU 7 148420335 148420335 single base substitution T C intron_variant MELA-AU 7 148420803 148420803 single base substitution T C intron_variant MELA-AU 7 148420844 148420844 single base substitution C T intron_variant MELA-AU 7 148421632 148421632 single base substitution T C intron_variant MELA-AU 7 148421902 148421902 single base substitution G A intron_variant MELA-AU 7 148422099 148422099 single base substitution T G intron_variant MELA-AU 7 148422263 148422263 single base substitution T G intron_variant MELA-AU 7 148422288 148422288 single base substitution T C intron_variant MELA-AU 7 148423942 148423942 single base substitution A T intron_variant MELA-AU 7 148424010 148424010 single base substitution G A intron_variant MELA-AU 7 148424052 148424052 single base substitution C T intron_variant MELA-AU 7 148424996 148424996 single base substitution C T intron_variant MELA-AU 7 148425442 148425442 single base substitution C T intron_variant MELA-AU 7 148425706 148425707 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 148426616 148426616 single base substitution T C intron_variant MELA-AU 7 148426649 148426649 single base substitution C G intron_variant MELA-AU 7 148427097 148427097 single base substitution C T 5_prime_UTR_variant MELA-AU 7 148427603 148427603 single base substitution C T intron_variant MELA-AU 7 148428299 148428299 single base substitution C T intron_variant MELA-AU 7 148428495 148428495 single base substitution C T intron_variant MELA-AU 7 148429263 148429263 single base substitution T G intron_variant MELA-AU 7 148429282 148429282 single base substitution G A intron_variant MELA-AU 7 148429333 148429333 single base substitution C T intron_variant MELA-AU 7 148429349 148429368 deletion of <=200bp GGAGGTGTCATTGTTGATCT - intron_variant MELA-AU 7 148429772 148429772 single base substitution C T intron_variant MELA-AU 7 148430439 148430439 single base substitution C G intron_variant MELA-AU 7 148431577 148431577 single base substitution C T intron_variant MELA-AU 7 148432312 148432312 single base substitution C T intron_variant MELA-AU 7 148433429 148433429 single base substitution C T intron_variant MELA-AU 7 148434021 148434021 single base substitution C T intron_variant MELA-AU 7 148434650 148434650 single base substitution G A intron_variant MELA-AU 7 148434651 148434651 insertion of <=200bp - TA intron_variant MELA-AU 7 148434666 148434666 single base substitution T A intron_variant MELA-AU 7 148434669 148434669 insertion of <=200bp - TATT intron_variant MELA-AU 7 148434941 148434941 single base substitution C T intron_variant MELA-AU 7 148436021 148436021 single base substitution G T intron_variant MELA-AU 7 148436226 148436226 single base substitution C A intron_variant MELA-AU 7 148436267 148436267 single base substitution T A intron_variant MELA-AU 7 148436358 148436358 single base substitution C T intron_variant MELA-AU 7 148436494 148436494 single base substitution C T intron_variant MELA-AU 7 148436685 148436685 single base substitution C G intron_variant MELA-AU 7 148436870 148436870 single base substitution C T intron_variant MELA-AU 7 148436881 148436881 single base substitution G A intron_variant MELA-AU 7 148436916 148436916 single base substitution T A intron_variant MELA-AU 7 148437035 148437035 single base substitution C T intron_variant MELA-AU 7 148437125 148437125 single base substitution G A intron_variant MELA-AU 7 148437611 148437611 single base substitution C T intron_variant MELA-AU 7 148437821 148437821 single base substitution C T intron_variant MELA-AU 7 148438379 148438379 single base substitution G A intron_variant MELA-AU 7 148438750 148438750 single base substitution C T intron_variant MELA-AU 7 148439660 148439660 single base substitution A G intron_variant MELA-AU 7 148440703 148440703 single base substitution C T intron_variant MELA-AU 7 148441032 148441032 single base substitution C T intron_variant MELA-AU 7 148442041 148442041 single base substitution G T intron_variant MELA-AU 7 148442124 148442124 single base substitution C T intron_variant MELA-AU 7 148442177 148442177 single base substitution C T intron_variant MELA-AU 7 148442288 148442288 single base substitution T A intron_variant MELA-AU 7 148442309 148442309 single base substitution C T intron_variant MELA-AU 7 148442397 148442397 single base substitution C T intron_variant MELA-AU 7 148442410 148442410 single base substitution C T intron_variant MELA-AU 7 148442613 148442613 single base substitution C T intron_variant MELA-AU 7 148442878 148442878 single base substitution A G intron_variant MELA-AU 7 148443196 148443196 single base substitution C T intron_variant MELA-AU 7 148444169 148444169 single base substitution C T intron_variant MELA-AU 7 148444213 148444213 single base substitution T C intron_variant MELA-AU 7 148444220 148444220 single base substitution G T intron_variant MELA-AU 7 148444714 148444714 single base substitution C T intron_variant MELA-AU 7 148445062 148445062 single base substitution G A intron_variant MELA-AU 7 148445163 148445163 single base substitution C T intron_variant MELA-AU 7 148445817 148445817 single base substitution C T intron_variant MELA-AU 7 148446370 148446370 deletion of <=200bp G - intron_variant MELA-AU 7 148446873 148446873 single base substitution C T intron_variant MELA-AU 7 148447205 148447205 single base substitution C T intron_variant MELA-AU 7 148447696 148447696 single base substitution C T intron_variant MELA-AU 7 148447863 148447863 single base substitution G T intron_variant MELA-AU 7 148450398 148450399 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 148451133 148451133 single base substitution C T missense_variant P69L 206C>T MELA-AU 7 148451946 148451946 single base substitution C T intron_variant MELA-AU 7 148452702 148452702 single base substitution T C intron_variant MELA-AU 7 148453421 148453421 single base substitution A T intron_variant MELA-AU 7 148453425 148453425 single base substitution C T intron_variant MELA-AU 7 148453463 148453463 single base substitution T G intron_variant MELA-AU 7 148453542 148453542 single base substitution C T intron_variant MELA-AU 7 148453780 148453780 single base substitution C T intron_variant MELA-AU 7 148454214 148454214 single base substitution G A missense_variant G152E 455G>A MELA-AU 7 148454257 148454257 single base substitution T C intron_variant MELA-AU 7 148454774 148454774 single base substitution C T intron_variant MELA-AU 7 148454890 148454890 single base substitution C A intron_variant MELA-AU 7 148456128 148456128 single base substitution G A intron_variant MELA-AU 7 148457998 148457998 single base substitution A G intron_variant MELA-AU 7 148458052 148458052 single base substitution C T intron_variant MELA-AU 7 148458246 148458246 single base substitution A G intron_variant MELA-AU 7 148458485 148458485 single base substitution C T intron_variant MELA-AU 7 148458573 148458573 single base substitution A T intron_variant MELA-AU 7 148458958 148458958 single base substitution A T intron_variant MELA-AU 7 148459402 148459402 single base substitution C T intron_variant MELA-AU 7 148459921 148459921 single base substitution C T intron_variant MELA-AU 7 148460122 148460122 single base substitution C T intron_variant MELA-AU 7 148460913 148460913 single base substitution G T intron_variant MELA-AU 7 148461583 148461583 single base substitution C T intron_variant MELA-AU 7 148461654 148461654 single base substitution C T intron_variant MELA-AU 7 148462381 148462381 single base substitution C T intron_variant MELA-AU 7 148462709 148462709 single base substitution C T intron_variant MELA-AU 7 148462751 148462751 single base substitution C T intron_variant MELA-AU 7 148463412 148463412 single base substitution C T intron_variant MELA-AU 7 148464308 148464308 single base substitution C T intron_variant MELA-AU 7 148464404 148464404 single base substitution A T intron_variant MELA-AU 7 148464691 148464692 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 7 148464701 148464701 single base substitution C T intron_variant MELA-AU 7 148464883 148464883 single base substitution C T intron_variant MELA-AU 7 148464946 148464946 single base substitution C T intron_variant MELA-AU 7 148465102 148465102 single base substitution C T intron_variant MELA-AU 7 148465518 148465518 single base substitution C T intron_variant MELA-AU 7 148465782 148465782 single base substitution G A intron_variant MELA-AU 7 148465831 148465831 single base substitution C G intron_variant MELA-AU 7 148465918 148465918 single base substitution C T intron_variant MELA-AU 7 148466016 148466016 single base substitution T C intron_variant MELA-AU 7 148466339 148466339 single base substitution A G intron_variant MELA-AU 7 148467180 148467180 single base substitution T C intron_variant MELA-AU 7 148467765 148467765 single base substitution C T intron_variant MELA-AU 7 148468349 148468349 single base substitution C T intron_variant MELA-AU 7 148468445 148468445 single base substitution C T intron_variant MELA-AU 7 148468476 148468476 single base substitution C T intron_variant MELA-AU 7 148469140 148469140 single base substitution G A intron_variant MELA-AU 7 148469635 148469635 single base substitution T C intron_variant MELA-AU 7 148469744 148469744 single base substitution C T intron_variant MELA-AU 7 148469809 148469810 multiple base substitution (>=2bp and <=200bp) CA TT intron_variant MELA-AU 7 148470092 148470093 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 7 148470575 148470575 single base substitution T C intron_variant MELA-AU 7 148471242 148471242 single base substitution C T intron_variant MELA-AU 7 148471707 148471707 single base substitution C T intron_variant MELA-AU 7 148472088 148472088 single base substitution C T intron_variant MELA-AU 7 148472400 148472400 single base substitution G A intron_variant MELA-AU 7 148472858 148472858 single base substitution C T intron_variant MELA-AU 7 148473321 148473321 single base substitution C T intron_variant MELA-AU 7 148473665 148473665 single base substitution T C intron_variant MELA-AU 7 148473738 148473738 single base substitution C T intron_variant MELA-AU 7 148473808 148473808 single base substitution C T intron_variant MELA-AU 7 148474003 148474003 single base substitution C T intron_variant MELA-AU 7 148474102 148474102 single base substitution C T intron_variant MELA-AU 7 148474114 148474114 single base substitution C T intron_variant MELA-AU 7 148474928 148474928 single base substitution C T intron_variant MELA-AU 7 148475569 148475569 single base substitution C T intron_variant MELA-AU 7 148476041 148476041 single base substitution G C intron_variant MELA-AU 7 148476091 148476091 single base substitution A G intron_variant MELA-AU 7 148476224 148476224 single base substitution T G intron_variant MELA-AU 7 148477219 148477220 multiple base substitution (>=2bp and <=200bp) CT AA intron_variant MELA-AU 7 148477792 148477792 single base substitution T G intron_variant MELA-AU 7 148478204 148478204 single base substitution C T intron_variant MELA-AU 7 148479303 148479303 single base substitution T G intron_variant MELA-AU 7 148479414 148479414 single base substitution C T intron_variant MELA-AU 7 148479573 148479574 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 148479592 148479592 single base substitution T C intron_variant MELA-AU 7 148480008 148480008 single base substitution C T intron_variant MELA-AU 7 148480814 148480814 single base substitution C T intron_variant MELA-AU 7 148482252 148482252 single base substitution C A intron_variant MELA-AU 7 148482313 148482313 single base substitution G A intron_variant MELA-AU 7 148482461 148482461 single base substitution T C intron_variant MELA-AU 7 148483736 148483736 single base substitution C T intron_variant MELA-AU 7 148484202 148484202 single base substitution C T missense_variant S490F 1469C>T MELA-AU 7 148484276 148484276 single base substitution C T intron_variant MELA-AU 7 148484334 148484334 single base substitution C T intron_variant MELA-AU 7 148484708 148484708 single base substitution C T intron_variant MELA-AU 7 148484713 148484713 single base substitution C T intron_variant MELA-AU 7 148484758 148484758 single base substitution C T intron_variant MELA-AU 7 148484816 148484816 single base substitution C T intron_variant MELA-AU 7 148484837 148484837 single base substitution C T intron_variant MELA-AU 7 148486832 148486832 single base substitution C T intron_variant MELA-AU 7 148487000 148487000 single base substitution C T intron_variant MELA-AU 7 148487699 148487699 single base substitution C T intron_variant MELA-AU 7 148487706 148487706 single base substitution T C intron_variant MELA-AU 7 148488069 148488069 single base substitution C T intron_variant MELA-AU 7 148488281 148488281 single base substitution C T intron_variant MELA-AU 7 148488513 148488513 single base substitution C T intron_variant MELA-AU 7 148488778 148488778 single base substitution C T intron_variant MELA-AU 7 148489346 148489346 single base substitution C T intron_variant MELA-AU 7 148489671 148489671 single base substitution C T intron_variant MELA-AU 7 148489785 148489785 single base substitution C T intron_variant MELA-AU 7 148490293 148490293 single base substitution C T intron_variant MELA-AU 7 148491865 148491865 single base substitution T A intron_variant MELA-AU 7 148492831 148492831 single base substitution C T intron_variant MELA-AU 7 148494522 148494522 single base substitution G T intron_variant MELA-AU 7 148494811 148494811 single base substitution T A intron_variant MELA-AU 7 148494993 148494993 single base substitution T C intron_variant MELA-AU 7 148494994 148494994 single base substitution C T intron_variant MELA-AU 7 148495268 148495268 single base substitution C T intron_variant MELA-AU 7 148495751 148495752 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant DR706DC MELA-AU 7 148496700 148496700 single base substitution A T intron_variant MELA-AU 7 148496764 148496764 single base substitution C T intron_variant MELA-AU 7 148497200 148497200 single base substitution C T intron_variant MELA-AU 7 148497901 148497901 single base substitution G A 3_prime_UTR_variant MELA-AU 7 148497901 148497901 single base substitution G A downstream_gene_variant MELA-AU 7 148500179 148500179 single base substitution C T downstream_gene_variant MELA-AU 7 148500665 148500665 single base substitution C A downstream_gene_variant MELA-AU 7 148500878 148500878 single base substitution A G downstream_gene_variant MELA-AU 7 148501560 148501560 single base substitution A C downstream_gene_variant ORCA-IN 7 148412235 148412235 single base substitution C T intron_variant ORCA-IN 7 148427444 148427444 single base substitution C A intron_variant ORCA-IN 7 148434672 148434672 insertion of <=200bp - TA intron_variant ORCA-IN 7 148438544 148438544 single base substitution C T intron_variant ORCA-IN 7 148460787 148460787 single base substitution A G intron_variant ORCA-IN 7 148481142 148481142 single base substitution G C missense_variant R424P 1271G>C OV-AU 7 148391646 148391646 single base substitution T A upstream_gene_variant OV-AU 7 148392404 148392404 single base substitution A T upstream_gene_variant OV-AU 7 148394593 148394593 single base substitution G C upstream_gene_variant OV-AU 7 148403872 148403872 single base substitution G T intron_variant OV-AU 7 148422518 148422518 single base substitution G C intron_variant OV-AU 7 148426857 148426857 single base substitution A G intron_variant OV-AU 7 148427511 148427511 single base substitution A T intron_variant OV-AU 7 148429914 148429914 single base substitution G A intron_variant OV-AU 7 148430472 148430472 single base substitution T C intron_variant OV-AU 7 148438286 148438286 single base substitution G A intron_variant OV-AU 7 148447549 148447549 single base substitution G A intron_variant OV-AU 7 148458155 148458155 single base substitution A T intron_variant OV-AU 7 148463636 148463636 single base substitution G C intron_variant OV-AU 7 148464606 148464606 single base substitution G C intron_variant OV-AU 7 148475476 148475476 single base substitution G T intron_variant OV-AU 7 148478389 148478389 single base substitution G A intron_variant OV-AU 7 148478411 148478411 single base substitution G T intron_variant OV-AU 7 148480995 148480995 single base substitution G T intron_variant OV-AU 7 148482836 148482836 single base substitution A G intron_variant OV-AU 7 148483727 148483727 single base substitution T A intron_variant OV-AU 7 148495848 148495848 single base substitution G C intron_variant OV-AU 7 148498564 148498564 single base substitution G A downstream_gene_variant OV-AU 7 148501645 148501645 single base substitution G C downstream_gene_variant PACA-AU 7 148396201 148396201 single base substitution C T intron_variant PACA-AU 7 148398205 148398205 single base substitution A G intron_variant PACA-AU 7 148400859 148400859 single base substitution G A intron_variant PACA-AU 7 148402358 148402358 deletion of <=200bp T - intron_variant PACA-AU 7 148403902 148403902 single base substitution G T intron_variant PACA-AU 7 148409805 148409805 single base substitution G T intron_variant PACA-AU 7 148416154 148416154 single base substitution A T intron_variant PACA-AU 7 148427219 148427219 single base substitution C G missense_variant S2W 5C>G PACA-AU 7 148427605 148427605 single base substitution T C intron_variant PACA-AU 7 148427739 148427739 deletion of <=200bp T - intron_variant PACA-AU 7 148434639 148434639 insertion of <=200bp - TG intron_variant PACA-AU 7 148434669 148434669 insertion of <=200bp - TATT intron_variant PACA-AU 7 148438291 148438291 single base substitution G A intron_variant PACA-AU 7 148443544 148443544 single base substitution A C intron_variant PACA-AU 7 148453133 148453133 single base substitution G T intron_variant PACA-AU 7 148456166 148456166 insertion of <=200bp - A intron_variant PACA-AU 7 148457535 148457538 deletion of <=200bp AGAG - frameshift_variant RE246 PACA-AU 7 148463230 148463230 single base substitution C T intron_variant PACA-AU 7 148468097 148468097 single base substitution C T intron_variant PACA-AU 7 148481620 148481620 single base substitution A T intron_variant PACA-AU 7 148482610 148482610 single base substitution G A intron_variant PACA-AU 7 148483709 148483709 single base substitution A G intron_variant PACA-AU 7 148488253 148488253 deletion of <=200bp T - intron_variant PACA-AU 7 148488819 148488819 single base substitution G A intron_variant PACA-AU 7 148490218 148490218 single base substitution C T intron_variant PACA-AU 7 148493197 148493197 single base substitution G A intron_variant PACA-CA 7 148393277 148393277 single base substitution C A upstream_gene_variant PACA-CA 7 148396056 148396056 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 7 148396056 148396056 single base substitution C T intron_variant PACA-CA 7 148397004 148397004 deletion of <=200bp T - intron_variant PACA-CA 7 148397011 148397011 single base substitution T C intron_variant PACA-CA 7 148402180 148402180 single base substitution T G intron_variant PACA-CA 7 148402334 148402334 insertion of <=200bp - T intron_variant PACA-CA 7 148402335 148402335 deletion of <=200bp T - intron_variant PACA-CA 7 148405125 148405125 single base substitution G C intron_variant PACA-CA 7 148405591 148405591 single base substitution C T intron_variant PACA-CA 7 148407392 148407392 single base substitution C T intron_variant PACA-CA 7 148411522 148411522 single base substitution C G intron_variant PACA-CA 7 148415172 148415172 single base substitution G A intron_variant PACA-CA 7 148416879 148416879 single base substitution G A intron_variant PACA-CA 7 148417721 148417721 single base substitution G A intron_variant PACA-CA 7 148418043 148418043 single base substitution A T intron_variant PACA-CA 7 148419694 148419694 single base substitution A G intron_variant PACA-CA 7 148422345 148422345 single base substitution A G intron_variant PACA-CA 7 148423952 148423952 single base substitution A T intron_variant PACA-CA 7 148431591 148431591 single base substitution C T intron_variant PACA-CA 7 148431831 148431831 single base substitution G A intron_variant PACA-CA 7 148434446 148434446 single base substitution G A intron_variant PACA-CA 7 148434687 148434687 single base substitution T A intron_variant PACA-CA 7 148437235 148437235 single base substitution C T intron_variant PACA-CA 7 148437559 148437559 single base substitution A G intron_variant PACA-CA 7 148438962 148438962 single base substitution G A intron_variant PACA-CA 7 148439273 148439273 single base substitution A G intron_variant PACA-CA 7 148443783 148443783 single base substitution A G intron_variant PACA-CA 7 148444061 148444061 single base substitution G A intron_variant PACA-CA 7 148456382 148456382 deletion of <=200bp T - intron_variant PACA-CA 7 148457272 148457272 single base substitution A G intron_variant PACA-CA 7 148457735 148457735 single base substitution C T intron_variant PACA-CA 7 148461535 148461535 single base substitution T C intron_variant PACA-CA 7 148462624 148462624 single base substitution G C intron_variant PACA-CA 7 148466920 148466920 single base substitution G A intron_variant PACA-CA 7 148467274 148467274 single base substitution G A intron_variant PACA-CA 7 148467595 148467595 single base substitution G A intron_variant PACA-CA 7 148486801 148486801 single base substitution T C intron_variant PACA-CA 7 148489227 148489227 single base substitution G A intron_variant PACA-CA 7 148493238 148493238 single base substitution C T intron_variant PACA-CA 7 148493745 148493745 single base substitution G A intron_variant PACA-CA 7 148497678 148497678 single base substitution T C 3_prime_UTR_variant PACA-CA 7 148497678 148497678 single base substitution T C downstream_gene_variant PACA-CA 7 148497888 148497888 single base substitution T A 3_prime_UTR_variant PACA-CA 7 148497888 148497888 single base substitution T A downstream_gene_variant PACA-CA 7 148498132 148498132 single base substitution G A downstream_gene_variant PACA-CA 7 148499297 148499297 single base substitution G A downstream_gene_variant PACA-CA 7 148500075 148500075 single base substitution C T downstream_gene_variant PACA-CA 7 148501398 148501398 single base substitution C T downstream_gene_variant PACA-CA 7 148501433 148501433 single base substitution A G downstream_gene_variant PAEN-AU 7 148442649 148442649 single base substitution C T intron_variant PAEN-AU 7 148466689 148466689 single base substitution A G intron_variant PAEN-AU 7 148475275 148475275 single base substitution A C intron_variant PAEN-AU 7 148487715 148487715 single base substitution G C intron_variant PAEN-AU 7 148493628 148493628 single base substitution A G intron_variant PAEN-IT 7 148393180 148393180 single base substitution C G upstream_gene_variant PAEN-IT 7 148444302 148444302 single base substitution T A intron_variant PAEN-IT 7 148454407 148454407 single base substitution C A intron_variant PBCA-DE 7 148423187 148423187 single base substitution G A intron_variant PBCA-DE 7 148438544 148438544 single base substitution C T intron_variant PBCA-DE 7 148444954 148444954 single base substitution T G intron_variant PBCA-DE 7 148477478 148477478 single base substitution A G intron_variant PBCA-DE 7 148479464 148479464 single base substitution G A intron_variant PBCA-DE 7 148488298 148488298 single base substitution C T intron_variant PBCA-DE 7 148496693 148496701 deletion of <=200bp TCAATACAC - intron_variant PRAD-CA 7 148417311 148417311 single base substitution T C intron_variant PRAD-CA 7 148445986 148445986 single base substitution C G intron_variant PRAD-CA 7 148458483 148458483 single base substitution A G intron_variant PRAD-CA 7 148494242 148494242 single base substitution C T intron_variant PRAD-CA 7 148498301 148498301 single base substitution T A downstream_gene_variant PRAD-UK 7 148391827 148391827 single base substitution A T upstream_gene_variant PRAD-UK 7 148447972 148447972 single base substitution A C intron_variant PRAD-UK 7 148463621 148463647 deletion of <=200bp CAAAACCATTCACTTGAATTAATTTTC - splice_region_variant PRAD-UK 7 148484405 148484405 single base substitution T A intron_variant PRAD-UK 7 148484813 148484813 single base substitution A G intron_variant READ-US 7 148454210 148454210 single base substitution G A missense_variant E151K 451G>A RECA-EU 7 148390365 148390365 single base substitution A G upstream_gene_variant RECA-EU 7 148393226 148393226 single base substitution G T upstream_gene_variant RECA-EU 7 148404700 148404700 single base substitution T A intron_variant RECA-EU 7 148421731 148421731 single base substitution G T intron_variant RECA-EU 7 148432886 148432886 single base substitution T G intron_variant RECA-EU 7 148433633 148433633 single base substitution A T intron_variant RECA-EU 7 148439215 148439215 single base substitution C T intron_variant RECA-EU 7 148444121 148444121 single base substitution C T intron_variant RECA-EU 7 148448643 148448643 single base substitution A C intron_variant RECA-EU 7 148456840 148456840 single base substitution T G intron_variant RECA-EU 7 148462015 148462015 single base substitution T C intron_variant RECA-EU 7 148465992 148465992 single base substitution A G intron_variant RECA-EU 7 148469549 148469549 single base substitution T A intron_variant RECA-EU 7 148477501 148477501 single base substitution G A intron_variant RECA-EU 7 148482340 148482340 single base substitution G A intron_variant RECA-EU 7 148484781 148484781 single base substitution T A intron_variant RECA-EU 7 148484880 148484880 single base substitution T G intron_variant RECA-EU 7 148493090 148493090 single base substitution C T intron_variant SKCA-BR 7 148390419 148390419 single base substitution C T upstream_gene_variant SKCA-BR 7 148391899 148391899 single base substitution A G upstream_gene_variant SKCA-BR 7 148396452 148396452 single base substitution T C intron_variant SKCA-BR 7 148398275 148398275 single base substitution T G intron_variant SKCA-BR 7 148404587 148404587 single base substitution T C intron_variant SKCA-BR 7 148406274 148406274 single base substitution T C intron_variant SKCA-BR 7 148408278 148408278 single base substitution A G intron_variant SKCA-BR 7 148409733 148409733 single base substitution C G intron_variant SKCA-BR 7 148416372 148416372 single base substitution C T intron_variant SKCA-BR 7 148418580 148418580 single base substitution C T intron_variant SKCA-BR 7 148420003 148420003 single base substitution C T intron_variant SKCA-BR 7 148420259 148420259 single base substitution C T intron_variant SKCA-BR 7 148420881 148420881 insertion of <=200bp - CT intron_variant SKCA-BR 7 148420881 148420881 insertion of <=200bp - CTT intron_variant SKCA-BR 7 148423942 148423942 single base substitution A T intron_variant SKCA-BR 7 148424630 148424630 single base substitution G A intron_variant SKCA-BR 7 148431121 148431121 insertion of <=200bp - CA intron_variant SKCA-BR 7 148434668 148434672 deletion of <=200bp ATATT - intron_variant SKCA-BR 7 148434945 148434945 single base substitution C T intron_variant SKCA-BR 7 148436189 148436189 single base substitution C T intron_variant SKCA-BR 7 148443675 148443675 single base substitution C A intron_variant SKCA-BR 7 148446981 148446981 single base substitution A G intron_variant SKCA-BR 7 148447403 148447403 single base substitution A T intron_variant SKCA-BR 7 148452302 148452302 single base substitution C T intron_variant SKCA-BR 7 148453246 148453246 single base substitution C T intron_variant SKCA-BR 7 148453821 148453821 single base substitution A C intron_variant SKCA-BR 7 148455411 148455411 single base substitution T C intron_variant SKCA-BR 7 148456331 148456331 single base substitution C T intron_variant SKCA-BR 7 148456563 148456563 single base substitution T G intron_variant SKCA-BR 7 148456888 148456888 single base substitution T A intron_variant SKCA-BR 7 148458644 148458644 single base substitution C T intron_variant SKCA-BR 7 148459302 148459302 single base substitution C T intron_variant SKCA-BR 7 148465902 148465902 single base substitution C T intron_variant SKCA-BR 7 148465936 148465936 single base substitution C T intron_variant SKCA-BR 7 148466799 148466799 single base substitution G A intron_variant SKCA-BR 7 148467724 148467724 single base substitution G A intron_variant SKCA-BR 7 148469917 148469917 single base substitution C T intron_variant SKCA-BR 7 148472947 148472947 insertion of <=200bp - GA intron_variant SKCA-BR 7 148474887 148474887 single base substitution G A intron_variant SKCA-BR 7 148475273 148475273 single base substitution C T intron_variant SKCA-BR 7 148478180 148478180 insertion of <=200bp - TTTTTTTA intron_variant SKCA-BR 7 148487659 148487659 single base substitution T G intron_variant SKCA-BR 7 148489192 148489192 single base substitution C T intron_variant SKCA-BR 7 148489581 148489581 single base substitution C A intron_variant SKCA-BR 7 148489770 148489770 single base substitution A C intron_variant SKCA-BR 7 148489869 148489869 single base substitution T C missense_variant Y620H 1858T>C SKCA-BR 7 148490183 148490183 single base substitution T G intron_variant SKCA-BR 7 148494506 148494506 single base substitution T A intron_variant SKCA-BR 7 148496032 148496032 single base substitution A G intron_variant SKCA-BR 7 148496746 148496746 single base substitution C T intron_variant SKCA-BR 7 148497075 148497075 single base substitution T G intron_variant SKCA-BR 7 148497387 148497387 single base substitution T C intron_variant SKCA-BR 7 148500352 148500352 single base substitution C T downstream_gene_variant SKCM-US 7 148427274 148427274 single base substitution C T synonymous_variant I20I 60C>T SKCM-US 7 148456715 148456715 single base substitution G A missense_variant V204I 610G>A SKCM-US 7 148481127 148481127 single base substitution C T missense_variant P419L 1256C>T SKCM-US 7 148484200 148484200 single base substitution C T synonymous_variant I489I 1467C>T SKCM-US 7 148486871 148486871 single base substitution G A missense_variant G543R 1627G>A SKCM-US 7 148495081 148495081 single base substitution C T missense_variant T667I 2000C>T SKCM-US 7 148496393 148496393 single base substitution G A missense_variant M721I 2163G>A STAD-US 7 148427251 148427251 single base substitution A C missense_variant K13Q 37A>C STAD-US 7 148427287 148427288 deletion of <=200bp AG - frameshift_variant R25 STAD-US 7 148427309 148427309 single base substitution A G missense_variant Y32C 95A>G STAD-US 7 148451198 148451198 single base substitution C T stop_gained R91* 271C>T STAD-US 7 148454195 148454195 single base substitution C T missense_variant R146C 436C>T STAD-US 7 148454198 148454198 single base substitution C T missense_variant R147C 439C>T STAD-US 7 148456394 148456394 single base substitution A G splice_acceptor_variant STAD-US 7 148456448 148456448 single base substitution T C splice_donor_variant STAD-US 7 148456729 148456729 single base substitution C T splice_region_variant STAD-US 7 148464767 148464767 insertion of <=200bp - A frameshift_variant K337K? STAD-US 7 148464776 148464776 single base substitution T G missense_variant L340V 1018T>G STAD-US 7 148484124 148484124 single base substitution A C missense_variant K464T 1391A>C STAD-US 7 148484179 148484179 single base substitution C T synonymous_variant D482D 1446C>T STAD-US 7 148484193 148484193 single base substitution G A missense_variant S487N 1460G>A STAD-US 7 148485686 148485686 single base substitution G A missense_variant R506H 1517G>A STAD-US 7 148485743 148485743 single base substitution T C missense_variant L525S 1574T>C STAD-US 7 148489850 148489850 single base substitution G A synonymous_variant Q613Q 1839G>A STAD-US 7 148489851 148489851 single base substitution T C missense_variant Y614H 1840T>C STAD-US 7 148489867 148489867 single base substitution C T missense_variant A619V 1856C>T STAD-US 7 148495753 148495753 single base substitution G A missense_variant R707H 2120G>A STAD-US 7 148496368 148496368 single base substitution C T missense_variant A713V 2138C>T STAD-US 7 148496426 148496426 single base substitution C T synonymous_variant G732G 2196C>T STAD-US 7 148497615 148497615 single base substitution G C missense_variant E758Q 2272G>C STAD-US 7 148497652 148497652 single base substitution A G missense_variant D770G 2309A>G UCEC-US 7 148427326 148427326 single base substitution G A missense_variant A38T 112G>A UCEC-US 7 148451124 148451124 single base substitution G T missense_variant G66V 197G>T UCEC-US 7 148454139 148454139 single base substitution G A missense_variant R127Q 380G>A UCEC-US 7 148454195 148454195 single base substitution C T missense_variant R146C 436C>T UCEC-US 7 148454241 148454241 single base substitution C T missense_variant S161L 482C>T UCEC-US 7 148463719 148463719 single base substitution G A missense_variant E286K 856G>A UCEC-US 7 148483687 148483687 single base substitution A G missense_variant Q448R 1343A>G UCEC-US 7 148485698 148485698 single base substitution A G missense_variant D510G 1529A>G UCEC-US 7 148486915 148486915 single base substitution A G synonymous_variant S557S 1671A>G UCEC-US 7 148487426 148487426 single base substitution A G missense_variant T567A 1699A>G UCEC-US 7 148487466 148487466 single base substitution C T missense_variant T580M 1739C>T UCEC-US 7 148489858 148489858 single base substitution C T missense_variant T616M 1847C>T UCEC-US 7 148494941 148494941 single base substitution C T missense_variant S646L 1937C>T UCEC-US 7 148494942 148494942 single base substitution G A synonymous_variant S646S 1938G>A UCEC-US 7 148495739 148495739 single base substitution C T synonymous_variant N702N 2106C>T UCEC-US 7 148495742 148495742 single base substitution C T synonymous_variant I703I 2109C>T UCEC-US 7 148497617 148497617 single base substitution G T missense_variant E758D 2274G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T2926 COSM205833 c.2290C>T p.R764* Substitution - Nonsense 7:148800541-148800541 + ESCC_122 COSM5640806 c.171C>G p.H57Q Substitution - Missense 7:148754006-148754006 + TCGA-B2-4099-01 COSM485010 c.1490G>A p.G497E Substitution - Missense 7:148788567-148788567 + PT48 COSM5932003 c.1948-7C>T p.? Unknown 7:148797930-148797930 + OSCC-GB_00410111 COSM3718694 c.1271G>C p.R424P Substitution - Missense 7:148784050-148784050 + CACO2 COSM3259576 c.683A>G p.Y228C Substitution - Missense 7:148760390-148760390 + TCGA-DK-A1A3-01 COSM421552 c.122G>A p.R41K Substitution - Missense 7:148730244-148730244 + TCGA-AB-2938-03 COSM1319009 c.723G>T p.E241D Substitution - Missense 7:148760430-148760430 + TCGA-CJ-4912-01 COSM485009 c.457C>T p.R153* Substitution - Nonsense 7:148757124-148757124 + TCGA-B5-A11G-01 COSM1087025 c.1671A>G p.S557S Substitution - coding silent 7:148789823-148789823 + YURAY COSM1087031 c.2109C>T p.I703I Substitution - coding silent 7:148798650-148798650 + TCGA-D1-A17Q-01 COSM205832 c.1937C>T p.S646L Substitution - Missense 7:148797849-148797849 + TCGA-BR-4184-01 COSM169519 c.2196C>T p.G732G Substitution - coding silent 7:148799334-148799334 + TCGA-A3-3387-01 COSM485011 c.1991A>G p.K664R Substitution - Missense 7:148797980-148797980 + QC2-42-T2 COSM5656214 c.2293G>A p.V765M Substitution - Missense 7:148800544-148800544 + C008 COSM5522463 c.703C>T p.Q235* Substitution - Nonsense 7:148760410-148760410 + 413T COSM4382071 c.961C>T p.R321C Substitution - Missense 7:148767627-148767627 + 8066553 COSM3785031 c.5C>G p.S2W Substitution - Missense 7:148730127-148730127 + TCGA-AA-A010-01 COSM280228 c.2017C>A p.L673I Substitution - Missense 7:148798006-148798006 + TCGA-CU-A3YL-01 COSM3778210 c.1258G>A p.E420K Substitution - Missense 7:148784037-148784037 + TCGA-BR-7851-01 COSM3879117 c.1517G>A p.R506H Substitution - Missense 7:148788594-148788594 + TCGA-46-3767-01 COSM745000 c.2112G>T p.E704D Substitution - Missense 7:148798653-148798653 + TCGA-AB-2838-03 COSM1319010 c.422A>G p.N141S Substitution - Missense 7:148757089-148757089 + ESO-0013 COSM1249455 c.1914A>C p.Q638H Substitution - Missense 7:148797826-148797826 + TCGA-CG-5733-01 COSM3259597 c.1460G>A p.S487N Substitution - Missense 7:148787101-148787101 + TCGA-EE-A2GD-06 COSM3635734 c.2163G>A p.M721I Substitution - Missense 7:148799301-148799301 + Pat_41_B COSM5872164 c.413C>T p.A138V Substitution - Missense 7:148757080-148757080 + 413LT COSM4382071 c.961C>T p.R321C Substitution - Missense 7:148767627-148767627 + TCGA-F4-6570-01 COSM1448959 c.437G>A p.R146H Substitution - Missense 7:148757104-148757104 + CHC433T COSM217402 c.1259A>T p.E420V Substitution - Missense 7:148784038-148784038 + CHC433T COSM217402 c.1259A>T p.E420V Substitution - Missense 7:148784038-148784038 + sysucc-311T COSM1087031 c.2109C>T p.I703I Substitution - coding silent 7:148798650-148798650 + TCGA-BR-6452-01 COSM3879124 c.2309A>G p.D770G Substitution - Missense 7:148800560-148800560 + I2L-P19Ta-Tumor-Organoid COSM5358107 c.719C>T p.T240I Substitution - Missense 7:148760426-148760426 + TCGA-EE-A182-06 COSM3635728 c.60C>T p.I20I Substitution - coding silent 7:148730182-148730182 + S0029 COSM5884505 c.503G>A p.R168K Substitution - Missense 7:148759323-148759323 + CHC433T COSM217402 c.1259A>T p.E420V Substitution - Missense 7:148784038-148784038 + TCGA-BR-8382-01 COSM3879111 c.439C>T p.R147C Substitution - Missense 7:148757106-148757106 + TCGA-06-0184-01 COSM2150430 c.658G>A p.A220T Substitution - Missense 7:148760365-148760365 + TCGA-AA-A010-01 COSM280227 c.1782C>A p.C594* Substitution - Nonsense 7:148790417-148790417 + TCGA-AM-5820-01 COSM5134629 c.1334_1337delCACT p.L446fs*3 Deletion - Frameshift 7:148786586-148786589 + TCGA-B7-5816-01 COSM452564 c.436C>T p.R146C Substitution - Missense 7:148757103-148757103 + TCGA-BR-4361-01 COSM3879119 c.1839G>A p.Q613Q Substitution - coding silent 7:148792758-148792758 + TCGA-GV-A3JX-01 COSM255374 c.1447G>A p.D483N Substitution - Missense 7:148787088-148787088 + TCGA-BR-8368-01 COSM3879118 c.1574T>C p.L525S Substitution - Missense 7:148788651-148788651 + SNUH_G57_S1 COSM3685093 c.1809G>A p.A603A Substitution - coding silent 7:148792728-148792728 + TCGA-06-0184 COSM2150430 c.658G>A p.A220T Substitution - Missense 7:148760365-148760365 + TCGA-CU-A0YO-01 COSM302016 c.1453G>A p.E485K Substitution - Missense 7:148787094-148787094 + 473 COSM4438206 c.916G>C p.E306Q Substitution - Missense 7:148766687-148766687 + MD-294 COSM302016 c.1453G>A p.E485K Substitution - Missense 7:148787094-148787094 + EGC8 COSM5062282 c.990G>T p.Q330H Substitution - Missense 7:148767656-148767656 + TCGA-AP-A059-01 COSM1087030 c.2106C>T p.N702N Substitution - coding silent 7:148798647-148798647 + ESCC_BICR_003T COSM302016 c.1453G>A p.E485K Substitution - Missense 7:148787094-148787094 + TCGA-BR-7707-01 COSM3879121 c.1856C>T p.A619V Substitution - Missense 7:148792775-148792775 + LOVO COSM3259562 c.105G>T p.Q35H Substitution - Missense 7:148730227-148730227 + CRC-03T COSM4382071 c.961C>T p.R321C Substitution - Missense 7:148767627-148767627 + HCC64T COSM1622510 c.372A>C p.E124D Substitution - Missense 7:148757039-148757039 + TCGA-EB-A3XB-01 COSM3635729 c.1256C>T p.P419L Substitution - Missense 7:148784035-148784035 + TCGA-BS-A0UF-01 COSM1087032 c.2274G>T p.E758D Substitution - Missense 7:148800525-148800525 + TCGA-BR-7707-01 COSM3879110 c.95A>G p.Y32C Substitution - Missense 7:148730217-148730217 + TCGA-BR-8368-01 COSM3879122 c.2120G>A p.R707H Substitution - Missense 7:148798661-148798661 + SJMB030 COSM255374 c.1447G>A p.D483N Substitution - Missense 7:148787088-148787088 + 3N32-VS-3T32 COSM4980837 c.1114G>T p.D372Y Substitution - Missense 7:148783813-148783813 + TCGA-AX-A0J1-01 COSM1087027 c.1739C>T p.T580M Substitution - Missense 7:148790374-148790374 + TCGA-DU-5852-01 COSM3928896 c.158G>A p.C53Y Substitution - Missense 7:148753993-148753993 + I2L-P19Ta-Tumor-Biopsy COSM5358107 c.719C>T p.T240I Substitution - Missense 7:148760426-148760426 + TCGA-D1-A17Q-01 COSM1087029 c.1938G>A p.S646S Substitution - coding silent 7:148797850-148797850 + TCGA-F1-6874-01 COSM3879112 c.484-2A>G p.? Unknown 7:148759302-148759302 + CDGLIV0609A0138_T COSM5041490 c.1449T>G p.D483E Substitution - Missense 7:148787090-148787090 + CSCC-27-T COSM4482384 c.25C>T p.P9S Substitution - Missense 7:148730147-148730147 + TCGA-BR-4184-01 COSM3879117 c.1517G>A p.R506H Substitution - Missense 7:148788594-148788594 + YUROG COSM5406891 c.222G>A p.K74K Substitution - coding silent 7:148754057-148754057 + TCGA-LP-A5U3-01 COSM302016 c.1453G>A p.E485K Substitution - Missense 7:148787094-148787094 + 18 COSM1329987 c.1667C>T p.P556L Substitution - Missense 7:148789819-148789819 + pfg344T COSM4747973 c.507_510delCTGT p.L171fs*4 Deletion - Frameshift 7:148759327-148759330 + LS180 COSM1448963 c.1122_1123insA p.Y377fs*12 Insertion - Frameshift 7:148783821-148783822 + TCGA-BR-4184-01 COSM3879114 c.624C>T p.Y208Y Substitution - coding silent 7:148759637-148759637 + TCGA-27-2528-01 COSM3411766 c.1428C>G p.H476Q Substitution - Missense 7:148787069-148787069 + sysucc-880T COSM5463600 c.1201C>T p.R401C Substitution - Missense 7:148783980-148783980 + TCGA-BT-A0S7-01 COSM421551 c.2140G>A p.A714T Substitution - Missense 7:148799278-148799278 + UM-SCC-4 COSM3259573 c.341G>C p.S114T Substitution - Missense 7:148757008-148757008 + TCGA-D1-A103-01 COSM1087028 c.1847C>T p.T616M Substitution - Missense 7:148792766-148792766 + TCGA-IR-A3LH-01 COSM4832347 c.737G>C p.R246T Substitution - Missense 7:148760444-148760444 + NYU587 COSM4771233 c.1412C>T p.A471V Substitution - Missense 7:148787053-148787053 + TCGA-DK-A3WW-01 COSM3778208 c.748G>T p.E250* Substitution - Nonsense 7:148760455-148760455 + PT48 COSM237260 c.1948-6T>A p.? Unknown 7:148797931-148797931 + TCGA-G2-A2EC-01 COSM1312804 c.1678G>A p.E560K Substitution - Missense 7:148790313-148790313 + HCC64 COSM1622510 c.372A>C p.E124D Substitution - Missense 7:148757039-148757039 + ESCC_BICR_047T COSM5430458 c.596G>C p.R199T Substitution - Missense 7:148759609-148759609 + CSCC-27-T COSM600070 c.838C>T p.H280Y Substitution - Missense 7:148766609-148766609 + TCGA-AX-A0J1-01 COSM1087017 c.112G>A p.A38T Substitution - Missense 7:148730234-148730234 + 1N63-VS-1T63 COSM4978010 c.389G>A p.S130N Substitution - Missense 7:148757056-148757056 + Gp5D COSM3259575 c.660A>G p.A220A Substitution - coding silent 7:148760367-148760367 + TCGA-ES-A2HS-01 COSM4910296 c.183A>G p.Q61Q Substitution - coding silent 7:148754018-148754018 + TCGA-D8-A1XK-01 COSM3832220 c.855T>C p.D285D Substitution - coding silent 7:148766626-148766626 + SJMB030 COSM255374 c.1447G>A p.D483N Substitution - Missense 7:148787088-148787088 + C99 COSM4620493 c.1518C>T p.R506R Substitution - coding silent 7:148788595-148788595 + TCGA-C4-A0F1-01 COSM302016 c.1453G>A p.E485K Substitution - Missense 7:148787094-148787094 + NYU587 COSM4771341 c.1411G>T p.A471S Substitution - Missense 7:148787052-148787052 + SJOS001126_D1 COSM5023364 c.1984G>C p.E662Q Substitution - Missense 7:148797973-148797973 + TCGA-AZ-6601-01 COSM1448961 c.757C>T p.Q253* Substitution - Nonsense 7:148760464-148760464 + PT46 COSM5928914 c.1469C>T p.S490F Substitution - Missense 7:148787110-148787110 + WA25 COSM239485 c.2275A>G p.K759E Substitution - Missense 7:148800526-148800526 + B66 COSM1087021 c.856G>A p.E286K Substitution - Missense 7:148766627-148766627 + TCGA-AQ-A0Y5-01 COSM1488339 c.721G>C p.E241Q Substitution - Missense 7:148760428-148760428 + LAU108 COSM232115 c.676A>T p.T226S Substitution - Missense 7:148760383-148760383 + TCGA-18-5592-01 COSM302016 c.1453G>A p.E485K Substitution - Missense 7:148787094-148787094 + SNUH_G22_S1 COSM4004363 c.1711G>C p.A571P Substitution - Missense 7:148790346-148790346 + TCGA-29-1769-01 COSM1329988 c.1369G>C p.E457Q Substitution - Missense 7:148787010-148787010 + 013T COSM1727779 c.796G>C p.A266P Substitution - Missense 7:148766567-148766567 + TCGA-BF-A3DM-01 COSM3923046 c.610G>A p.V204I Substitution - Missense 7:148759623-148759623 + TCGA-B5-A0JY-01 COSM452564 c.436C>T p.R146C Substitution - Missense 7:148757103-148757103 + TCGA-61-1727-01 COSM1329987 c.1667C>T p.P556L Substitution - Missense 7:148789819-148789819 + 4 COSM3734970 c.469T>G p.Y157D Substitution - Missense 7:148757136-148757136 + ATL089 COSM5710450 c.1906T>G p.L636V Substitution - Missense 7:148797818-148797818 + NYU937 COSM302016 c.1453G>A p.E485K Substitution - Missense 7:148787094-148787094 + TCGA-BS-A0UJ-01 COSM1087026 c.1699A>G p.T567A Substitution - Missense 7:148790334-148790334 + BCM325T COSM4950936 c.2015A>G p.Y672C Substitution - Missense 7:148798004-148798004 + HCA7 COSM4631183 c.1418G>T p.R473M Substitution - Missense 7:148787059-148787059 + T3267 COSM4675559 c.1327G>C p.E443Q Substitution - Missense 7:148786579-148786579 + STC246 COSM5062283 c.2119C>T p.R707C Substitution - Missense 7:148798660-148798660 + TCGA-D1-A16X-01 COSM1087031 c.2109C>T p.I703I Substitution - coding silent 7:148798650-148798650 + TCGA-D1-A103-01 COSM1087019 c.380G>A p.R127Q Substitution - Missense 7:148757047-148757047 + TCGA-C5-A1BI-01 COSM4443563 c.1730G>A p.R577Q Substitution - Missense 7:148790365-148790365 + I2L-P7-Tumor-Organoid COSM485011 c.1991A>G p.K664R Substitution - Missense 7:148797980-148797980 + TCGA-D1-A16F-01 COSM1087022 c.1343A>G p.Q448R Substitution - Missense 7:148786595-148786595 + PD3995a COSM160277 c.2094C>G p.T698T Substitution - coding silent 7:148798635-148798635 + 174T COSM1726034 c.1313A>T p.E438V Substitution - Missense 7:148786565-148786565 + TCGA-BR-7707-01 COSM3259596 c.1446C>T p.D482D Substitution - coding silent 7:148787087-148787087 + TCGA-D1-A103-01 COSM1087024 c.1529A>G p.D510G Substitution - Missense 7:148788606-148788606 + 41T COSM3718694 c.1271G>C p.R424P Substitution - Missense 7:148784050-148784050 + SNUH_G76_S1 COSM4419153 c.1675-7T>C p.? Unknown 7:148790303-148790303 + B66-Tumor COSM1087021 c.856G>A p.E286K Substitution - Missense 7:148766627-148766627 + TCGA-EX-A69L-01 COSM4854739 c.1989G>A p.L663L Substitution - coding silent 7:148797978-148797978 + TCGA-BR-4257-01 COSM3879123 c.2138C>T p.A713V Substitution - Missense 7:148799276-148799276 + B104-0-Tumor COSM1755151 c.503G>C p.R168T Substitution - Missense 7:148759323-148759323 + TCGA-FP-8211-01 COSM600067 c.2272G>C p.E758Q Substitution - Missense 7:148800523-148800523 + K196 COSM249462 c.1661C>T p.A554V Substitution - Missense 7:148789813-148789813 + TCGA-AX-A064-01 COSM1087018 c.197G>T p.G66V Substitution - Missense 7:148754032-148754032 + PD4124a COSM160276 c.271C>T p.R91* Substitution - Nonsense 7:148754106-148754106 + LUAD-D01603 COSM338018 c.1547A>G p.D516G Substitution - Missense 7:148788624-148788624 + HCC160T COSM5819226 c.217A>G p.K73E Substitution - Missense 7:148754052-148754052 + TCGA-CA-6717-01 COSM205832 c.1937C>T p.S646L Substitution - Missense 7:148797849-148797849 + TCGA-E2-A1AZ-01 COSM452564 c.436C>T p.R146C Substitution - Missense 7:148757103-148757103 + TCGA-EE-A2A2-06 COSM3635730 c.1467C>T p.I489I Substitution - coding silent 7:148787108-148787108 + WA53 COSM237260 c.1948-6T>A p.? Unknown 7:148797931-148797931 + TCGA-BR-A4PD-01 COSM3879109 c.37A>C p.K13Q Substitution - Missense 7:148730159-148730159 + C658 COSM4443563 c.1730G>A p.R577Q Substitution - Missense 7:148790365-148790365 + T636 COSM4675561 c.2136G>A p.Q712Q Substitution - coding silent 7:148798677-148798677 + TCGA-60-2723-01 COSM745001 c.1593A>G p.L531L Substitution - coding silent 7:148788670-148788670 + SC_9083 COSM5566766 c.2234G>C p.R745P Substitution - Missense 7:148799372-148799372 + SNUH_G76_S1 COSM4417400 c.1191+8C>T p.? Unknown 7:148783898-148783898 + SNUH_G26_S1 COSM3685093 c.1809G>A p.A603A Substitution - coding silent 7:148792728-148792728 + T3262 COSM3879123 c.2138C>T p.A713V Substitution - Missense 7:148799276-148799276 + NCI-H1770 COSM22063 c.1067G>A p.G356E Substitution - Missense 7:148767733-148767733 + DN12100 COSM5786726 c.1718G>A p.R573H Substitution - Missense 7:148790353-148790353 + TCGA-BR-8487-01 COSM160276 c.271C>T p.R91* Substitution - Nonsense 7:148754106-148754106 + TCGA-EE-A2GR-06 COSM3635731 c.1627G>A p.G543R Substitution - Missense 7:148789779-148789779 + TCGA-AX-A0J0-01 COSM1087020 c.482C>T p.S161L Substitution - Missense 7:148757149-148757149 + TCGA-G2-A3VY-01 COSM3778209 c.874G>A p.E292K Substitution - Missense 7:148766645-148766645 + CHC1754T COSM5347987 c.1014delA p.K338fs*23 Deletion - Frameshift 7:148767680-148767680 + TCGA-MH-A560-01 COSM3995432 c.2146G>A p.V716M Substitution - Missense 7:148799284-148799284 + PD13609a COSM5786726 c.1718G>A p.R573H Substitution - Missense 7:148790353-148790353 + HN_62646 COSM127745 c.2235A>T p.R745R Substitution - coding silent 7:148799373-148799373 + TCGA-AA-3543-01 COSM265643 c.1903_1904insT p.L636fs*19 Insertion - Frameshift 7:148797815-148797816 + TCGA-HU-A4GX-01 COSM3879113 c.534+2T>C p.? Unknown 7:148759356-148759356 + HCC31T COSM1622512 c.2278G>C p.E760Q Substitution - Missense 7:148800529-148800529 + TCGA-CG-4442-01 COSM3879115 c.1018T>G p.L340V Substitution - Missense 7:148767684-148767684 + TCGA-F4-6807-01 COSM1448965 c.2197G>A p.E733K Substitution - Missense 7:148799335-148799335 + CSCC-7-T COSM4534325 c.2076G>A p.Q692Q Substitution - coding silent 7:148798617-148798617 + TCGA-CK-5916-01 COSM3698245 c.2185C>T p.Q729* Substitution - Nonsense 7:148799323-148799323 + TCGA-D9-A6EC-06 COSM4404444 c.2000C>T p.T667I Substitution - Missense 7:148797989-148797989 + LS174T COSM1448963 c.1122_1123insA p.Y377fs*12 Insertion - Frameshift 7:148783821-148783822 + TCGA-HU-A4GH-01 COSM3879116 c.1391A>C p.K464T Substitution - Missense 7:148787032-148787032 + TCGA-EY-A1GS-01 COSM1087021 c.856G>A p.E286K Substitution - Missense 7:148766627-148766627 + pfg213T COSM302016 c.1453G>A p.E485K Substitution - Missense 7:148787094-148787094 + T368 COSM4675558 c.625G>A p.V209M Substitution - Missense 7:148759638-148759638 + B104-0 COSM1755151 c.503G>C p.R168T Substitution - Missense 7:148759323-148759323 + ESCC_BICR_013T COSM5439408 c.1366A>G p.I456V Substitution - Missense 7:148787007-148787007 + TCGA-EI-6917-01 COSM3431347 c.451G>A p.E151K Substitution - Missense 7:148757118-148757118 + TCGA-60-2707-01 COSM745003 c.753C>A p.F251L Substitution - Missense 7:148760460-148760460 + TCGA-66-2794-01 COSM745002 c.866G>A p.R289K Substitution - Missense 7:148766637-148766637 + TCGA-A4-8310-01 COSM3995431 c.2039T>C p.L680S Substitution - Missense 7:148798580-148798580 + T368 COSM4675560 c.1536C>T p.G512G Substitution - coding silent 7:148788613-148788613 + TCGA-C5-A1BQ-01 COSM4841864 c.330G>A p.L110L Substitution - coding silent 7:148756997-148756997 + TCGA-HU-A4GN-01 COSM3879120 c.1840T>C p.Y614H Substitution - Missense 7:148792759-148792759 + BCM325T COSM4950936 c.2015A>G p.Y672C Substitution - Missense 7:148798004-148798004 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.146806 7q36.1 603134

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.N406H c.1216A>C 7 148481087 LUAD A C Missense p.Q638H c.1914A>C 7 148494918 ESCA A G Missense p.N141S c.422A>G 7 148454181 AML A G Missense p.N405S c.1214A>G 7 148481085 LUAD A G Missense p.Q448R c.1343A>G 7 148483687 UCEC A G SpliceAcceptorSNV . c.484-2A>G 7 148456394 STAD A G Synonymous p.L531L c.1593A>G 7 148485762 LUSC A G Synonymous p.S557S c.1671A>G 7 148486915 UCEC A T Missense p.E420V c.1259A>T 7 148481130 HC A T Synonymous p.R745R c.2235A>T 7 148496465 HNSC C A Missense p.F251L c.753C>A 7 148457552 LUSC C A Missense p.R506S c.1516C>A 7 148485685 STAD CC AA Missense p.P256K c.766_767delinsAA 7 148457565 CM C - Frameshift p.N685Mfs*4 c.2052delC 7 148495685 GBM C - Frameshift p.T552Nfs*28 c.1655delC 7 148486899 RCCC CG AT Missense p.G543W c.1626_1627delinsAT 7 148486870 CM C G Missense p.H476Q c.1428C>G 7 148484161 GBM C G Synonymous p.T698T c.2094C>G 7 148495727 BRCA C T Missense p.A713V c.2138C>T 7 148496368 STAD C T Missense p.H280Y c.838C>T 7 148463701 LUAD C T Missense p.P747S c.2239C>T 7 148496469 CM C T Missense p.R146C c.436C>T 7 148454195 BRCA C T Missense p.R146C c.436C>T 7 148454195 STAD C T Missense p.T621I c.1862C>T 7 148489873 CM C T Nonsense p.Q330* c.988C>T 7 148464746 CM C T Nonsense p.Q584* c.1750C>T 7 148487477 HNSC C T Nonsense p.R153* c.457C>T 7 148454216 RCCC C T Nonsense p.R63* c.187C>T 7 148451114 COREAD C T Nonsense p.R91* c.271C>T 7 148451198 BRCA C T Synonymous p.I20I c.60C>T 7 148427274 CM C T Synonymous p.I489I c.1467C>T 7 148484200 CM G A Missense p.A220T c.658G>A 7 148457457 GBM G A Missense p.A714T c.2140G>A 7 148496370 BLCA G A Missense p.C53Y c.158G>A 7 148451085 LGG G A Missense p.D483N c.1447G>A 7 148484180 BLCA G A Missense p.E286K c.856G>A 7 148463719 UCEC G A Missense p.E292K c.874G>A 7 148463737 HNSC G A Missense p.E439K c.1315G>A 7 148483659 HNSC G A Missense p.E485K c.1453G>A 7 148484186 BLCA G A Missense p.E485K c.1453G>A 7 148484186 HNSC G A Missense p.E485K c.1453G>A 7 148484186 LUSC G A Missense p.E560K c.1678G>A 7 148487405 BLCA G A Missense p.G497E c.1490G>A 7 148485659 RCCC G A Missense p.G543R c.1627G>A 7 148486871 CM G A Missense p.M721I c.2163G>A 7 148496393 CM G A Missense p.R289K c.866G>A 7 148463729 LUSC G A Missense p.R41K c.122G>A 7 148427336 BLCA G A Missense p.S487N c.1460G>A 7 148484193 STAD G A Missense p.V204I c.610G>A 7 148456715 CM G A Synonymous p.Q19Q c.57G>A 7 148427271 HNSC G C Missense p.E241Q c.721G>C 7 148457520 BRCA G C Missense p.E499D c.1497G>C 7 148485666 HNSC G C Missense p.E758Q c.2272G>C 7 148497615 LUAD G C Missense p.Q463H c.1389G>C 7 148484122 LUAD G T Missense p.E241D c.723G>T 7 148457522 AML G T Missense p.E704D c.2112G>T 7 148495745 LUSC G T Missense p.G66V c.197G>T 7 148451124 UCEC G T Nonsense p.E695* c.2083G>T 7 148495716 HNSC - TA IntronicInsertion . c.315+20_315+21dupTA 7 148451255 STAD - T Frameshift p.L636Ffs*19 c.1907dupT 7 148494908 COREAD T G Missense p.V461G c.1382T>G 7 148484115 LUAD