Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 14 104205313 104205313 + Silent SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr14:104205313G>A c.2640C>T c.(2638-2640)caC>caT p.H880H ACC 14 104206356 104206356 + Silent SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr14:104206356G>A c.2397C>T c.(2395-2397)ccC>ccT p.P799P BLCA 14 104201510 104201510 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr14:104201510C>T c.3254G>A c.(3253-3255)cGa>cAa p.R1085Q BLCA 14 104205089 104205089 + Missense_Mutation SNP C C T TCGA-YC-A8S6-01A-31D-A38G-08 TCGA-YC-A8S6-10A-01D-A38J-08 g.chr14:104205089C>T c.2791G>A c.(2791-2793)Gcc>Acc p.A931T BLCA 14 104206365 104206365 + Silent SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr14:104206365T>C c.2388A>G c.(2386-2388)ttA>ttG p.L796L BLCA 14 104206397 104206397 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 g.chr14:104206397C>A c.2356G>T c.(2356-2358)Gcc>Tcc p.A786S BLCA 14 104206432 104206432 + Frame_Shift_Del DEL G G - TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr14:104206432delG c.2321delC c.(2320-2322)cctfs p.P774fs BLCA 14 104209111 104209111 + Frame_Shift_Del DEL C C - TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr14:104209111delC c.1200delG c.(1198-1200)gtgfs p.V400fs BLCA 14 104209113 104209113 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr14:104209113C>A c.1198G>T c.(1198-1200)Gtg>Ttg p.V400L BLCA 14 104216224 104216224 + Silent SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr14:104216224C>T c.876G>A c.(874-876)caG>caA p.Q292Q BLCA 14 104263749 104263749 + Missense_Mutation SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr14:104263749C>T c.116G>A c.(115-117)gGa>gAa p.G39E BRCA 14 104206651 104206651 + Missense_Mutation SNP G G A TCGA-BH-A0H3-01A-11D-A12Q-09 TCGA-BH-A0H3-11A-12D-A12Q-09 g.chr14:104206651G>A c.2102C>T c.(2101-2103)gCg>gTg p.A701V BRCA 14 104208267 104208267 + Missense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 g.chr14:104208267C>A c.1682G>T c.(1681-1683)gGg>gTg p.G561V BRCA 14 104224078 104224078 + Missense_Mutation SNP G G T TCGA-A2-A0EM-01A-11W-A050-09 TCGA-A2-A0EM-10A-01W-A055-09 g.chr14:104224078G>T c.365C>A c.(364-366)cCa>cAa p.P122Q BRCA 14 104263855 104263855 + Splice_Site SNP T T A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 g.chr14:104263855T>A c.10A>T c.(10-12)Atg>Ttg p.M4L CESC 14 104219456 104219456 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr14:104219456G>A c.709C>T c.(709-711)Cag>Tag p.Q237* CESC 14 104224057 104224057 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr14:104224057G>C c.386C>G c.(385-387)tCa>tGa p.S129* CHOL 14 104202439 104202439 + Missense_Mutation SNP G G T TCGA-ZH-A8Y4-01A-11D-A417-09 TCGA-ZH-A8Y4-10A-01D-A41A-09 g.chr14:104202439G>T c.3132C>A c.(3130-3132)gaC>gaA p.D1044E COAD 14 104202439 104202439 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:104202439G>A c.3132C>T c.(3130-3132)gaC>gaT p.D1044D COAD 14 104205329 104205329 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr14:104205329G>A c.2624C>T c.(2623-2625)tCg>tTg p.S875L COAD 14 104206215 104206215 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:104206215C>A c.2538G>T c.(2536-2538)gaG>gaT p.E846D COAD 14 104208418 104208418 + Frame_Shift_Del DEL G G - TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:104208418delG c.1531delC c.(1531-1533)cagfs p.Q511fs COAD 14 104209129 104209129 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:104209129C>A c.1182G>T c.(1180-1182)caG>caT p.Q394H COAD 14 104216204 104216204 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:104216204C>T c.896G>A c.(895-897)cGc>cAc p.R299H COAD 14 104216245 104216245 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:104216245T>G c.855A>C c.(853-855)caA>caC p.Q285H COAD 14 104219466 104219467 + Frame_Shift_Ins INS - - A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr14:104219466_104219467insA c.698_699insT c.(697-699)ttafs p.L233fs COAD 14 104245134 104245134 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:104245134C>T c.302G>A c.(301-303)cGa>cAa p.R101Q COAD 14 104245135 104245135 + Nonsense_Mutation SNP G G A TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr14:104245135G>A c.301C>T c.(301-303)Cga>Tga p.R101* COADREAD 14 104202439 104202439 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:104202439G>A c.3132C>T c.(3130-3132)gaC>gaT p.D1044D COADREAD 14 104204146 104204146 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:104204146C>A c.2916G>T c.(2914-2916)caG>caT p.Q972H COADREAD 14 104205329 104205329 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr14:104205329G>A c.2624C>T c.(2623-2625)tCg>tTg p.S875L COADREAD 14 104206215 104206215 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:104206215C>A c.2538G>T c.(2536-2538)gaG>gaT p.E846D COADREAD 14 104208418 104208418 + Frame_Shift_Del DEL G G - TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr14:104208418delG c.1531delC c.(1531-1533)cagfs p.Q511fs COADREAD 14 104209129 104209129 + Missense_Mutation SNP C C A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:104209129C>A c.1182G>T c.(1180-1182)caG>caT p.Q394H COADREAD 14 104216204 104216204 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:104216204C>T c.896G>A c.(895-897)cGc>cAc p.R299H COADREAD 14 104216245 104216245 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:104216245T>G c.855A>C c.(853-855)caA>caC p.Q285H COADREAD 14 104219466 104219467 + Frame_Shift_Ins INS - - A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr14:104219466_104219467insA c.698_699insT c.(697-699)ttafs p.L233fs COADREAD 14 104245134 104245134 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:104245134C>T c.302G>A c.(301-303)cGa>cAa p.R101Q COADREAD 14 104245135 104245135 + Nonsense_Mutation SNP G G A TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr14:104245135G>A c.301C>T c.(301-303)Cga>Tga p.R101* ESCA 14 104206296 104206296 + Missense_Mutation SNP G G C TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 g.chr14:104206296G>C c.2457C>G c.(2455-2457)gaC>gaG p.D819E ESCA 14 104206306 104206306 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr14:104206306G>A c.2447C>T c.(2446-2448)cCg>cTg p.P816L ESCA 14 104220545 104220545 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr14:104220545G>A c.493C>T c.(493-495)Cgt>Tgt p.R165C ESCA 14 104251168 104251168 + Nonsense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 g.chr14:104251168G>A c.241C>T c.(241-243)Cga>Tga p.R81* GBMLGG 14 104205229 104205229 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:104205229G>T c.2724C>A c.(2722-2724)atC>atA p.I908I GBMLGG 14 104219392 104219392 + Missense_Mutation SNP C C T TCGA-DU-A76K-01A-11D-A33T-08 TCGA-DU-A76K-10A-01D-A33W-08 g.chr14:104219392C>T c.773G>A c.(772-774)gGc>gAc p.G258D GBMLGG 14 104220415 104220415 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 g.chr14:104220415C>T c.623G>A c.(622-624)gGc>gAc p.G208D HNSC 14 104205305 104205305 + Missense_Mutation SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr14:104205305C>T c.2648G>A c.(2647-2649)aGa>aAa p.R883K HNSC 14 104206422 104206422 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr14:104206422G>A c.2331C>T c.(2329-2331)ccC>ccT p.P777P HNSC 14 104206647 104206647 + Silent SNP G G C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 g.chr14:104206647G>C c.2106C>G c.(2104-2106)ccC>ccG p.P702P HNSC 14 104209072 104209072 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr14:104209072C>T c.1239G>A c.(1237-1239)ccG>ccA p.P413P HNSC 14 104245125 104245125 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr14:104245125C>G c.311G>C c.(310-312)aGa>aCa p.R104T KICH 14 104205041 104205041 + Missense_Mutation SNP C C T TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr14:104205041C>T c.2839G>A c.(2839-2841)Gtg>Atg p.V947M KIPAN 14 104205041 104205041 + Missense_Mutation SNP C C T TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr14:104205041C>T c.2839G>A c.(2839-2841)Gtg>Atg p.V947M KIPAN 14 104206456 104206456 + Frame_Shift_Del DEL T T - TCGA-A3-3385-01A-02W-1475-10 TCGA-A3-3385-11A-01W-1475-10 g.chr14:104206456delT c.2297delA c.(2296-2298)aatfs p.N766fs KIPAN 14 104206573 104206573 + Missense_Mutation SNP T T A TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr14:104206573T>A c.2180A>T c.(2179-2181)tAc>tTc p.Y727F KIPAN 14 104208221 104208222 + Frame_Shift_Ins INS - - G TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr14:104208221_104208222insG c.1727_1728insC c.(1726-1728)tcafs p.S576fs KIPAN 14 104208276 104208276 + Missense_Mutation SNP G G A TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr14:104208276G>A c.1673C>T c.(1672-1674)gCt>gTt p.A558V KIPAN 14 104219447 104219447 + Missense_Mutation SNP G G T TCGA-5P-A9JZ-01A-11D-A42J-10 TCGA-5P-A9JZ-10A-01D-A42M-10 g.chr14:104219447G>T c.718C>A c.(718-720)Cag>Aag p.Q240K KIRC 14 104206456 104206456 + Frame_Shift_Del DEL T T - TCGA-A3-3385-01A-02W-1475-10 TCGA-A3-3385-11A-01W-1475-10 g.chr14:104206456delT c.2297delA c.(2296-2298)aatfs p.N766fs KIRC 14 104208221 104208222 + Frame_Shift_Ins INS - - G TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr14:104208221_104208222insG c.1727_1728insC c.(1726-1728)tcafs p.S576fs KIRC 14 104208276 104208276 + Missense_Mutation SNP G G A TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr14:104208276G>A c.1673C>T c.(1672-1674)gCt>gTt p.A558V KIRP 14 104206573 104206573 + Missense_Mutation SNP T T A TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr14:104206573T>A c.2180A>T c.(2179-2181)tAc>tTc p.Y727F KIRP 14 104219447 104219447 + Missense_Mutation SNP G G T TCGA-5P-A9JZ-01A-11D-A42J-10 TCGA-5P-A9JZ-10A-01D-A42M-10 g.chr14:104219447G>T c.718C>A c.(718-720)Cag>Aag p.Q240K LGG 14 104205229 104205229 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:104205229G>T c.2724C>A c.(2722-2724)atC>atA p.I908I LGG 14 104219392 104219392 + Missense_Mutation SNP C C T TCGA-DU-A76K-01A-11D-A33T-08 TCGA-DU-A76K-10A-01D-A33W-08 g.chr14:104219392C>T c.773G>A c.(772-774)gGc>gAc p.G258D LGG 14 104220415 104220415 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 g.chr14:104220415C>T c.623G>A c.(622-624)gGc>gAc p.G208D LIHC 14 104205095 104205095 + Missense_Mutation SNP C C T TCGA-MI-A75G-01A-11D-A32G-10 TCGA-MI-A75G-10A-01D-A32G-10 g.chr14:104205095C>T c.2785G>A c.(2785-2787)Gtc>Atc p.V929I LIHC 14 104206739 104206739 + Missense_Mutation SNP G G A TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr14:104206739G>A c.2014C>T c.(2014-2016)Ccc>Tcc p.P672S LIHC 14 104206859 104206859 + Missense_Mutation SNP A A G TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr14:104206859A>G c.1894T>C c.(1894-1896)Tcc>Ccc p.S632P LIHC 14 104216135 104216136 + Frame_Shift_Ins INS - - T TCGA-ED-A97K-01A-21D-A382-10 TCGA-ED-A97K-10A-01D-A385-10 g.chr14:104216135_104216136insT c.964_965insA c.(964-966)attfs p.I322fs LUAD 14 104205098 104205098 + Missense_Mutation SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 g.chr14:104205098C>A c.2782G>T c.(2782-2784)Gcc>Tcc p.A928S LUAD 14 104206652 104206652 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 g.chr14:104206652C>T c.2101G>A c.(2101-2103)Gcg>Acg p.A701T LUAD 14 104206830 104206830 + Silent SNP A A T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 g.chr14:104206830A>T c.1923T>A c.(1921-1923)ccT>ccA p.P641P LUAD 14 104208269 104208269 + Frame_Shift_Del DEL T T - TCGA-83-5908-01A-21D-2284-08 TCGA-83-5908-10A-01D-2284-08 g.chr14:104208269delT c.1680delA c.(1678-1680)aaafs p.K560fs LUAD 14 104220583 104220583 + Splice_Site SNP T T A TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr14:104220583T>A c.e6-2 LUAD 14 104251168 104251168 + Nonsense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr14:104251168G>A c.241C>T c.(241-243)Cga>Tga p.R81* LUAD 14 104251172 104251172 + Missense_Mutation SNP G G T TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr14:104251172G>T c.237C>A c.(235-237)ttC>ttA p.F79L LUAD 14 104263810 104263810 + Missense_Mutation SNP C C T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr14:104263810C>T c.55G>A c.(55-57)Gaa>Aaa p.E19K LUSC 14 104202520 104202520 + Silent SNP A A G TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 g.chr14:104202520A>G c.3051T>C c.(3049-3051)ggT>ggC p.G1017G LUSC 14 104206296 104206296 + Silent SNP G G A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr14:104206296G>A c.2457C>T c.(2455-2457)gaC>gaT p.D819D LUSC 14 104206338 104206338 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr14:104206338G>A c.2415C>T c.(2413-2415)atC>atT p.I805I LUSC 14 104206650 104206650 + Silent SNP C C A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr14:104206650C>A c.2103G>T c.(2101-2103)gcG>gcT p.A701A LUSC 14 104208264 104208264 + Nonsense_Mutation SNP G G C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr14:104208264G>C c.1685C>G c.(1684-1686)tCa>tGa p.S562* LUSC 14 104208451 104208451 + Missense_Mutation SNP G G T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr14:104208451G>T c.1498C>A c.(1498-1500)Ccc>Acc p.P500T LUSC 14 104209151 104209151 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr14:104209151C>G c.1160G>C c.(1159-1161)gGa>gCa p.G387A LUSC 14 104251219 104251219 + Nonsense_Mutation SNP C C A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr14:104251219C>A c.190G>T c.(190-192)Gaa>Taa p.E64* LUSC 14 104251226 104251226 + Missense_Mutation SNP C C G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr14:104251226C>G c.183G>C c.(181-183)atG>atC p.M61I OV 14 104219373 104219373 + Silent SNP C C T TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 g.chr14:104219373C>T c.792G>A c.(790-792)gcG>gcA p.A264A PAAD 14 104205286 104205286 + Silent SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 g.chr14:104205286C>T c.2667G>A c.(2665-2667)ctG>ctA p.L889L PAAD 14 104245101 104245101 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chr14:104245101T>C c.335A>G c.(334-336)gAa>gGa p.E112G PRAD 14 104205266 104205268 + In_Frame_Del DEL GAC GAC - TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 g.chr14:104205266_104205268delGAC c.2685_2687delGTC c.(2683-2688)gcgtct>gct p.S896del PRAD 14 104206284 104206284 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:104206284G>A c.2469C>T c.(2467-2469)aaC>aaT p.N823N PRAD 14 104209063 104209063 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:104209063C>A c.1248G>T c.(1246-1248)gaG>gaT p.E416D PRAD 14 104212714 104212714 + Silent SNP T T C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 g.chr14:104212714T>C c.1146A>G c.(1144-1146)aaA>aaG p.K382K PRAD 14 104219354 104219354 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:104219354G>A c.811C>T c.(811-813)Ctg>Ttg p.L271L PRAD 14 104224075 104224075 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:104224075C>T c.368G>A c.(367-369)cGt>cAt p.R123H PRAD 14 104251154 104251154 + Silent SNP G G A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 g.chr14:104251154G>A c.255C>T c.(253-255)tcC>tcT p.S85S READ 14 104204146 104204146 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:104204146C>A c.2916G>T c.(2914-2916)caG>caT p.Q972H SARC 14 104202499 104202499 + Silent SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 g.chr14:104202499C>T c.3072G>A c.(3070-3072)gcG>gcA p.A1024A SARC 14 104205300 104205300 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr14:104205300G>A c.2653C>T c.(2653-2655)Cgg>Tgg p.R885W SKCM 14 104201504 104201504 + Missense_Mutation SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr14:104201504C>T c.3260G>A c.(3259-3261)cGa>cAa p.R1087Q SKCM 14 104206311 104206311 + Silent SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr14:104206311G>T c.2442C>A c.(2440-2442)gcC>gcA p.A814A SKCM 14 104206624 104206624 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr14:104206624G>A c.2129C>T c.(2128-2130)tCc>tTc p.S710F SKCM 14 104206730 104206730 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr14:104206730G>A c.2023C>T c.(2023-2025)Ctc>Ttc p.L675F SKCM 14 104206767 104206767 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr14:104206767G>A c.1986C>T c.(1984-1986)acC>acT p.T662T SKCM 14 104206768 104206768 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr14:104206768G>A c.1985C>T c.(1984-1986)aCc>aTc p.T662I SKCM 14 104206788 104206788 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr14:104206788G>A c.1965C>T c.(1963-1965)gcC>gcT p.A655A SKCM 14 104206791 104206791 + Silent SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr14:104206791G>A c.1962C>T c.(1960-1962)ccC>ccT p.P654P SKCM 14 104208206 104208206 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr14:104208206G>A c.1743C>T c.(1741-1743)tcC>tcT p.S581S SKCM 14 104208349 104208349 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr14:104208349C>T c.1600G>A c.(1600-1602)Gga>Aga p.G534R SKCM 14 104208499 104208499 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr14:104208499C>T c.1450G>A c.(1450-1452)Gaa>Aaa p.E484K SKCM 14 104208524 104208524 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr14:104208524C>T c.1425G>A c.(1423-1425)tcG>tcA p.S475S SKCM 14 104212809 104212809 + Nonsense_Mutation SNP G G A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr14:104212809G>A c.1051C>T c.(1051-1053)Cag>Tag p.Q351* SKCM 14 104216268 104216268 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr14:104216268G>A c.832C>T c.(832-834)Cgt>Tgt p.R278C SKCM 14 104245089 104245089 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr14:104245089T>G c.347A>C c.(346-348)gAa>gCa p.E116A

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 14 104205290 104205290 single base substitution G T 3_prime_UTR_variant BLCA-CN 14 104205290 104205290 single base substitution G T downstream_gene_variant BLCA-CN 14 104205290 104205290 single base substitution G T exon_variant BLCA-CN 14 104205290 104205290 single base substitution G T missense_variant P307H 920C>A BLCA-CN 14 104205290 104205290 single base substitution G T missense_variant P888H 2663C>A BLCA-CN 14 104205290 104205290 single base substitution G T upstream_gene_variant BLCA-US 14 104201510 104201510 single base substitution C T 3_prime_UTR_variant BLCA-US 14 104201510 104201510 single base substitution C T downstream_gene_variant BLCA-US 14 104201510 104201510 single base substitution C T exon_variant BLCA-US 14 104201510 104201510 single base substitution C T intron_variant BLCA-US 14 104201510 104201510 single base substitution C T missense_variant R1085Q 3254G>A BLCA-US 14 104206397 104206397 single base substitution C A 3_prime_UTR_variant BLCA-US 14 104206397 104206397 single base substitution C A downstream_gene_variant BLCA-US 14 104206397 104206397 single base substitution C A exon_variant BLCA-US 14 104206397 104206397 single base substitution C A missense_variant A205S 613G>T BLCA-US 14 104206397 104206397 single base substitution C A missense_variant A786S 2356G>T BLCA-US 14 104206397 104206397 single base substitution C A upstream_gene_variant BLCA-US 14 104263749 104263749 single base substitution C T exon_variant BLCA-US 14 104263749 104263749 single base substitution C T intron_variant BLCA-US 14 104263749 104263749 single base substitution C T missense_variant G36E 107G>A BLCA-US 14 104263749 104263749 single base substitution C T missense_variant G39E 116G>A BRCA-EU 14 104195920 104195920 single base substitution G A downstream_gene_variant BRCA-EU 14 104196220 104196220 single base substitution C G downstream_gene_variant BRCA-EU 14 104197784 104197784 single base substitution A C downstream_gene_variant BRCA-EU 14 104198237 104198237 single base substitution C G downstream_gene_variant BRCA-EU 14 104199940 104199940 single base substitution A C downstream_gene_variant BRCA-EU 14 104200849 104200849 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 104200849 104200849 single base substitution C T downstream_gene_variant BRCA-EU 14 104200849 104200849 single base substitution C T exon_variant BRCA-EU 14 104202295 104202295 single base substitution G A downstream_gene_variant BRCA-EU 14 104202295 104202295 single base substitution G A intron_variant BRCA-EU 14 104203402 104203402 single base substitution G A downstream_gene_variant BRCA-EU 14 104203402 104203402 single base substitution G A exon_variant BRCA-EU 14 104203402 104203402 single base substitution G A intron_variant BRCA-EU 14 104206631 104206631 single base substitution G A 3_prime_UTR_variant BRCA-EU 14 104206631 104206631 single base substitution G A downstream_gene_variant BRCA-EU 14 104206631 104206631 single base substitution G A exon_variant BRCA-EU 14 104206631 104206631 single base substitution G A intron_variant BRCA-EU 14 104206631 104206631 single base substitution G A missense_variant R127C 379C>T BRCA-EU 14 104206631 104206631 single base substitution G A missense_variant R708C 2122C>T BRCA-EU 14 104206631 104206631 single base substitution G A upstream_gene_variant BRCA-EU 14 104208084 104208084 single base substitution A G downstream_gene_variant BRCA-EU 14 104208084 104208084 single base substitution A G intron_variant BRCA-EU 14 104208084 104208084 single base substitution A G upstream_gene_variant BRCA-EU 14 104208623 104208623 single base substitution G A 3_prime_UTR_variant BRCA-EU 14 104208623 104208623 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 14 104208623 104208623 single base substitution G A downstream_gene_variant BRCA-EU 14 104208623 104208623 single base substitution G A exon_variant BRCA-EU 14 104208623 104208623 single base substitution G A intron_variant BRCA-EU 14 104208623 104208623 single base substitution G A synonymous_variant I442I 1326C>T BRCA-EU 14 104208623 104208623 single base substitution G A upstream_gene_variant BRCA-EU 14 104209000 104209000 single base substitution C A 3_prime_UTR_variant BRCA-EU 14 104209000 104209000 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 14 104209000 104209000 single base substitution C A downstream_gene_variant BRCA-EU 14 104209000 104209000 single base substitution C A exon_variant BRCA-EU 14 104209000 104209000 single base substitution C A intron_variant BRCA-EU 14 104209000 104209000 single base substitution C A synonymous_variant T437T 1311G>T BRCA-EU 14 104209000 104209000 single base substitution C A upstream_gene_variant BRCA-EU 14 104209918 104209918 single base substitution G C downstream_gene_variant BRCA-EU 14 104209918 104209918 single base substitution G C intron_variant BRCA-EU 14 104209918 104209918 single base substitution G C upstream_gene_variant BRCA-EU 14 104209923 104209923 single base substitution G T downstream_gene_variant BRCA-EU 14 104209923 104209923 single base substitution G T intron_variant BRCA-EU 14 104209923 104209923 single base substitution G T upstream_gene_variant BRCA-EU 14 104212123 104212123 single base substitution C G downstream_gene_variant BRCA-EU 14 104212123 104212123 single base substitution C G intron_variant BRCA-EU 14 104212123 104212123 single base substitution C G upstream_gene_variant BRCA-EU 14 104216360 104216360 single base substitution A T downstream_gene_variant BRCA-EU 14 104216360 104216360 single base substitution A T intron_variant BRCA-EU 14 104216360 104216360 single base substitution A T upstream_gene_variant BRCA-EU 14 104216842 104216842 single base substitution A C downstream_gene_variant BRCA-EU 14 104216842 104216842 single base substitution A C intron_variant BRCA-EU 14 104216842 104216842 single base substitution A C upstream_gene_variant BRCA-EU 14 104217479 104217479 deletion of <=200bp A - downstream_gene_variant BRCA-EU 14 104217479 104217479 deletion of <=200bp A - intron_variant BRCA-EU 14 104217479 104217479 deletion of <=200bp A - upstream_gene_variant BRCA-EU 14 104218236 104218236 single base substitution C T downstream_gene_variant BRCA-EU 14 104218236 104218236 single base substitution C T intron_variant BRCA-EU 14 104218236 104218236 single base substitution C T upstream_gene_variant BRCA-EU 14 104220243 104220243 single base substitution A T downstream_gene_variant BRCA-EU 14 104220243 104220243 single base substitution A T intron_variant BRCA-EU 14 104222174 104222174 single base substitution C G downstream_gene_variant BRCA-EU 14 104222174 104222174 single base substitution C G intron_variant BRCA-EU 14 104222423 104222423 deletion of <=200bp T - downstream_gene_variant BRCA-EU 14 104222423 104222423 deletion of <=200bp T - intron_variant BRCA-EU 14 104229074 104229074 single base substitution G C intron_variant BRCA-EU 14 104229157 104229157 single base substitution G T intron_variant BRCA-EU 14 104229215 104229215 single base substitution G C intron_variant BRCA-EU 14 104230462 104230462 single base substitution G C 3_prime_UTR_variant BRCA-EU 14 104230462 104230462 single base substitution G C intron_variant BRCA-EU 14 104231156 104231156 deletion of <=200bp T - intron_variant BRCA-EU 14 104231265 104231265 single base substitution C T intron_variant BRCA-EU 14 104231291 104231291 single base substitution G T intron_variant BRCA-EU 14 104232145 104232145 single base substitution T A intron_variant BRCA-EU 14 104234646 104234646 deletion of <=200bp T - intron_variant BRCA-EU 14 104235052 104235052 single base substitution A G intron_variant BRCA-EU 14 104235301 104235301 single base substitution G A intron_variant BRCA-EU 14 104235457 104235457 single base substitution C G intron_variant BRCA-EU 14 104235485 104235485 single base substitution C T intron_variant BRCA-EU 14 104236197 104236197 single base substitution G C intron_variant BRCA-EU 14 104236873 104236873 single base substitution T C intron_variant BRCA-EU 14 104237964 104237964 single base substitution C A intron_variant BRCA-EU 14 104241620 104241620 single base substitution T A downstream_gene_variant BRCA-EU 14 104241620 104241620 single base substitution T A intron_variant BRCA-EU 14 104242961 104242961 single base substitution G C downstream_gene_variant BRCA-EU 14 104242961 104242961 single base substitution G C intron_variant BRCA-EU 14 104245090 104245090 single base substitution C T downstream_gene_variant BRCA-EU 14 104245090 104245090 single base substitution C T exon_variant BRCA-EU 14 104245090 104245090 single base substitution C T intron_variant BRCA-EU 14 104245090 104245090 single base substitution C T missense_variant E113K 337G>A BRCA-EU 14 104245090 104245090 single base substitution C T missense_variant E116K 346G>A BRCA-EU 14 104245434 104245434 single base substitution C T intron_variant BRCA-EU 14 104248789 104248789 single base substitution A T intron_variant BRCA-EU 14 104251475 104251475 single base substitution G A intron_variant BRCA-EU 14 104252104 104252104 single base substitution G A intron_variant BRCA-EU 14 104252758 104252758 single base substitution C A intron_variant BRCA-EU 14 104255568 104255568 single base substitution T G intron_variant BRCA-EU 14 104258792 104258792 single base substitution G A intron_variant BRCA-EU 14 104260781 104260781 single base substitution A C intron_variant BRCA-EU 14 104261292 104261292 insertion of <=200bp - T intron_variant BRCA-EU 14 104266204 104266204 single base substitution G A intron_variant BRCA-EU 14 104266466 104266466 single base substitution A G intron_variant BRCA-EU 14 104267417 104267417 single base substitution C A intron_variant BRCA-EU 14 104268505 104268505 single base substitution T A intron_variant BRCA-EU 14 104268506 104268506 single base substitution C A intron_variant BRCA-EU 14 104268732 104268732 deletion of <=200bp T - intron_variant BRCA-EU 14 104271046 104271046 single base substitution G A intron_variant BRCA-EU 14 104271454 104271454 single base substitution G A intron_variant BRCA-EU 14 104272068 104272068 single base substitution G A intron_variant BRCA-EU 14 104274433 104274433 single base substitution T A intron_variant BRCA-EU 14 104274773 104274773 single base substitution G C intron_variant BRCA-EU 14 104275024 104275024 single base substitution T C intron_variant BRCA-EU 14 104279232 104279232 single base substitution C G intron_variant BRCA-EU 14 104282568 104282568 single base substitution C A intron_variant BRCA-EU 14 104283907 104283907 deletion of <=200bp T - intron_variant BRCA-EU 14 104284057 104284057 deletion of <=200bp T - intron_variant BRCA-EU 14 104285910 104285910 single base substitution T C intron_variant BRCA-EU 14 104287097 104287097 single base substitution G A intron_variant BRCA-EU 14 104287235 104287235 insertion of <=200bp - G intron_variant BRCA-EU 14 104288134 104288134 single base substitution A G intron_variant BRCA-EU 14 104291371 104291371 single base substitution G A intron_variant BRCA-EU 14 104292135 104292135 single base substitution C G intron_variant BRCA-EU 14 104293008 104293008 single base substitution G C intron_variant BRCA-EU 14 104293668 104293668 deletion of <=200bp A - intron_variant BRCA-EU 14 104295017 104295017 single base substitution G C intron_variant BRCA-EU 14 104295764 104295764 deletion of <=200bp T - intron_variant BRCA-EU 14 104297219 104297219 deletion of <=200bp A - intron_variant BRCA-EU 14 104298417 104298417 single base substitution C A intron_variant BRCA-EU 14 104298455 104298455 single base substitution A G intron_variant BRCA-EU 14 104300536 104300536 single base substitution A G intron_variant BRCA-EU 14 104301280 104301281 deletion of <=200bp TT - intron_variant BRCA-EU 14 104302145 104302145 single base substitution A G intron_variant BRCA-EU 14 104302250 104302250 deletion of <=200bp T - intron_variant BRCA-EU 14 104304108 104304108 single base substitution A G intron_variant BRCA-EU 14 104305235 104305235 single base substitution G C intron_variant BRCA-EU 14 104305537 104305537 single base substitution G C intron_variant BRCA-EU 14 104307335 104307335 deletion of <=200bp T - intron_variant BRCA-EU 14 104307335 104307335 deletion of <=200bp T - upstream_gene_variant BRCA-EU 14 104308099 104308099 single base substitution G A intron_variant BRCA-EU 14 104308099 104308099 single base substitution G A upstream_gene_variant BRCA-EU 14 104311934 104311934 single base substitution G C intron_variant BRCA-EU 14 104311963 104311969 deletion of <=200bp AAAATGT - intron_variant BRCA-EU 14 104313772 104313772 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 14 104313772 104313772 single base substitution G C exon_variant BRCA-EU 14 104313772 104313772 single base substitution G C intron_variant BRCA-EU 14 104313772 104313772 single base substitution G C upstream_gene_variant BRCA-EU 14 104317579 104317579 single base substitution G T upstream_gene_variant BRCA-EU 14 104318330 104318330 single base substitution G C upstream_gene_variant BRCA-EU 14 104318411 104318411 deletion of <=200bp T - upstream_gene_variant BRCA-EU 14 104318806 104318806 single base substitution C T upstream_gene_variant BRCA-FR 14 104198237 104198237 single base substitution C G downstream_gene_variant BRCA-FR 14 104209768 104209768 single base substitution G A downstream_gene_variant BRCA-FR 14 104209768 104209768 single base substitution G A intron_variant BRCA-FR 14 104209768 104209768 single base substitution G A upstream_gene_variant BRCA-FR 14 104209798 104209798 single base substitution G C downstream_gene_variant BRCA-FR 14 104209798 104209798 single base substitution G C intron_variant BRCA-FR 14 104209798 104209798 single base substitution G C upstream_gene_variant BRCA-FR 14 104209814 104209814 single base substitution G T downstream_gene_variant BRCA-FR 14 104209814 104209814 single base substitution G T intron_variant BRCA-FR 14 104209814 104209814 single base substitution G T upstream_gene_variant BRCA-FR 14 104209862 104209862 single base substitution G C downstream_gene_variant BRCA-FR 14 104209862 104209862 single base substitution G C intron_variant BRCA-FR 14 104209862 104209862 single base substitution G C upstream_gene_variant BRCA-FR 14 104209918 104209918 single base substitution G C downstream_gene_variant BRCA-FR 14 104209918 104209918 single base substitution G C intron_variant BRCA-FR 14 104209918 104209918 single base substitution G C upstream_gene_variant BRCA-FR 14 104209923 104209923 single base substitution G T downstream_gene_variant BRCA-FR 14 104209923 104209923 single base substitution G T intron_variant BRCA-FR 14 104209923 104209923 single base substitution G T upstream_gene_variant BRCA-FR 14 104222174 104222174 single base substitution C G downstream_gene_variant BRCA-FR 14 104222174 104222174 single base substitution C G intron_variant BRCA-FR 14 104225568 104225568 single base substitution T A exon_variant BRCA-FR 14 104225568 104225568 single base substitution T A intron_variant BRCA-FR 14 104229074 104229074 single base substitution G C intron_variant BRCA-FR 14 104229157 104229157 single base substitution G T intron_variant BRCA-FR 14 104229215 104229215 single base substitution G C intron_variant BRCA-FR 14 104230462 104230462 single base substitution G C 3_prime_UTR_variant BRCA-FR 14 104230462 104230462 single base substitution G C intron_variant BRCA-FR 14 104231291 104231291 single base substitution G T intron_variant BRCA-FR 14 104241404 104241404 single base substitution G A downstream_gene_variant BRCA-FR 14 104241404 104241404 single base substitution G A intron_variant BRCA-FR 14 104241631 104241631 single base substitution A T downstream_gene_variant BRCA-FR 14 104241631 104241631 single base substitution A T intron_variant BRCA-FR 14 104255568 104255568 single base substitution T G intron_variant BRCA-FR 14 104273916 104273916 single base substitution C T intron_variant BRCA-FR 14 104275024 104275024 single base substitution T C intron_variant BRCA-FR 14 104285910 104285910 single base substitution T C intron_variant BRCA-FR 14 104308099 104308099 single base substitution G A intron_variant BRCA-FR 14 104308099 104308099 single base substitution G A upstream_gene_variant BRCA-FR 14 104311934 104311934 single base substitution G C intron_variant BRCA-FR 14 104317579 104317579 single base substitution G T upstream_gene_variant BRCA-UK 14 104196804 104196804 single base substitution G A downstream_gene_variant BRCA-UK 14 104216842 104216842 single base substitution A C downstream_gene_variant BRCA-UK 14 104216842 104216842 single base substitution A C intron_variant BRCA-UK 14 104216842 104216842 single base substitution A C upstream_gene_variant BRCA-UK 14 104266466 104266466 single base substitution A G intron_variant BRCA-UK 14 104283055 104283055 single base substitution C T intron_variant BRCA-UK 14 104293454 104293454 single base substitution G A intron_variant BRCA-UK 14 104305537 104305537 single base substitution G C intron_variant BRCA-US 14 104206651 104206651 single base substitution G A 3_prime_UTR_variant BRCA-US 14 104206651 104206651 single base substitution G A downstream_gene_variant BRCA-US 14 104206651 104206651 single base substitution G A exon_variant BRCA-US 14 104206651 104206651 single base substitution G A intron_variant BRCA-US 14 104206651 104206651 single base substitution G A missense_variant A120V 359C>T BRCA-US 14 104206651 104206651 single base substitution G A missense_variant A701V 2102C>T BRCA-US 14 104206651 104206651 single base substitution G A upstream_gene_variant BRCA-US 14 104208267 104208267 single base substitution C A 3_prime_UTR_variant BRCA-US 14 104208267 104208267 single base substitution C A 5_prime_UTR_variant BRCA-US 14 104208267 104208267 single base substitution C A downstream_gene_variant BRCA-US 14 104208267 104208267 single base substitution C A exon_variant BRCA-US 14 104208267 104208267 single base substitution C A intron_variant BRCA-US 14 104208267 104208267 single base substitution C A missense_variant G561V 1682G>T BRCA-US 14 104208267 104208267 single base substitution C A upstream_gene_variant BRCA-US 14 104224078 104224078 single base substitution G T 3_prime_UTR_variant BRCA-US 14 104224078 104224078 single base substitution G T exon_variant BRCA-US 14 104224078 104224078 single base substitution G T intron_variant BRCA-US 14 104224078 104224078 single base substitution G T missense_variant P119Q 356C>A BRCA-US 14 104224078 104224078 single base substitution G T missense_variant P122Q 365C>A BRCA-US 14 104263855 104263855 single base substitution T A initiator_codon_variant M1L 1A>T BRCA-US 14 104263855 104263855 single base substitution T A intron_variant BRCA-US 14 104263855 104263855 single base substitution T A missense_variant M4L 10A>T BRCA-US 14 104263855 104263855 single base substitution T A splice_region_variant BTCA-JP 14 104196143 104196143 single base substitution C T downstream_gene_variant BTCA-JP 14 104201070 104201070 single base substitution C T 3_prime_UTR_variant BTCA-JP 14 104201070 104201070 single base substitution C T downstream_gene_variant BTCA-JP 14 104201070 104201070 single base substitution C T exon_variant BTCA-JP 14 104201070 104201070 single base substitution C T intron_variant BTCA-JP 14 104202439 104202439 single base substitution G A 3_prime_UTR_variant BTCA-JP 14 104202439 104202439 single base substitution G A downstream_gene_variant BTCA-JP 14 104202439 104202439 single base substitution G A exon_variant BTCA-JP 14 104202439 104202439 single base substitution G A intron_variant BTCA-JP 14 104202439 104202439 single base substitution G A synonymous_variant D1044D 3132C>T BTCA-JP 14 104204083 104204083 single base substitution G A 3_prime_UTR_variant BTCA-JP 14 104204083 104204083 single base substitution G A downstream_gene_variant BTCA-JP 14 104204083 104204083 single base substitution G A exon_variant BTCA-JP 14 104204083 104204083 single base substitution G A intron_variant BTCA-JP 14 104204083 104204083 single base substitution G A synonymous_variant D993D 2979C>T BTCA-JP 14 104204083 104204083 single base substitution G A upstream_gene_variant BTCA-JP 14 104206392 104206392 single base substitution C T 3_prime_UTR_variant BTCA-JP 14 104206392 104206392 single base substitution C T downstream_gene_variant BTCA-JP 14 104206392 104206392 single base substitution C T exon_variant BTCA-JP 14 104206392 104206392 single base substitution C T synonymous_variant P206P 618G>A BTCA-JP 14 104206392 104206392 single base substitution C T synonymous_variant P787P 2361G>A BTCA-JP 14 104206392 104206392 single base substitution C T upstream_gene_variant BTCA-JP 14 104208302 104208302 single base substitution C T 3_prime_UTR_variant BTCA-JP 14 104208302 104208302 single base substitution C T 5_prime_UTR_variant BTCA-JP 14 104208302 104208302 single base substitution C T downstream_gene_variant BTCA-JP 14 104208302 104208302 single base substitution C T exon_variant BTCA-JP 14 104208302 104208302 single base substitution C T intron_variant BTCA-JP 14 104208302 104208302 single base substitution C T synonymous_variant L549L 1647G>A BTCA-JP 14 104208302 104208302 single base substitution C T upstream_gene_variant CESC-US 14 104219456 104219456 single base substitution G A 3_prime_UTR_variant CESC-US 14 104219456 104219456 single base substitution G A downstream_gene_variant CESC-US 14 104219456 104219456 single base substitution G A intron_variant CESC-US 14 104219456 104219456 single base substitution G A stop_gained Q237* 709C>T CESC-US 14 104224057 104224057 single base substitution G C 3_prime_UTR_variant CESC-US 14 104224057 104224057 single base substitution G C exon_variant CESC-US 14 104224057 104224057 single base substitution G C intron_variant CESC-US 14 104224057 104224057 single base substitution G C stop_gained S126* 377C>G CESC-US 14 104224057 104224057 single base substitution G C stop_gained S129* 386C>G CESC-US 14 104263661 104263661 single base substitution G A intron_variant CLLE-ES 14 104209939 104209939 single base substitution C T downstream_gene_variant CLLE-ES 14 104209939 104209939 single base substitution C T intron_variant CLLE-ES 14 104209939 104209939 single base substitution C T upstream_gene_variant CLLE-ES 14 104212824 104212824 single base substitution C T 3_prime_UTR_variant CLLE-ES 14 104212824 104212824 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 14 104212824 104212824 single base substitution C T downstream_gene_variant CLLE-ES 14 104212824 104212824 single base substitution C T exon_variant CLLE-ES 14 104212824 104212824 single base substitution C T intron_variant CLLE-ES 14 104212824 104212824 single base substitution C T missense_variant V346M 1036G>A CLLE-ES 14 104212824 104212824 single base substitution C T upstream_gene_variant CLLE-ES 14 104241831 104241831 single base substitution A G downstream_gene_variant CLLE-ES 14 104241831 104241831 single base substitution A G intron_variant CLLE-ES 14 104246923 104246923 single base substitution G A intron_variant CLLE-ES 14 104253617 104253617 single base substitution C A intron_variant CLLE-ES 14 104292188 104292188 single base substitution T C intron_variant CLLE-ES 14 104294106 104294106 single base substitution T C intron_variant CLLE-ES 14 104310163 104310163 single base substitution G C intron_variant CLLE-ES 14 104310163 104310163 single base substitution G C upstream_gene_variant COAD-US 14 104205123 104205123 single base substitution G A 3_prime_UTR_variant COAD-US 14 104205123 104205123 single base substitution G A downstream_gene_variant COAD-US 14 104205123 104205123 single base substitution G A exon_variant COAD-US 14 104205123 104205123 single base substitution G A synonymous_variant D338D 1014C>T COAD-US 14 104205123 104205123 single base substitution G A synonymous_variant D919D 2757C>T COAD-US 14 104205123 104205123 single base substitution G A upstream_gene_variant COAD-US 14 104205329 104205329 single base substitution G A 3_prime_UTR_variant COAD-US 14 104205329 104205329 single base substitution G A downstream_gene_variant COAD-US 14 104205329 104205329 single base substitution G A exon_variant COAD-US 14 104205329 104205329 single base substitution G A missense_variant S294L 881C>T COAD-US 14 104205329 104205329 single base substitution G A missense_variant S875L 2624C>T COAD-US 14 104205329 104205329 single base substitution G A upstream_gene_variant COAD-US 14 104206616 104206616 single base substitution C T 3_prime_UTR_variant COAD-US 14 104206616 104206616 single base substitution C T downstream_gene_variant COAD-US 14 104206616 104206616 single base substitution C T exon_variant COAD-US 14 104206616 104206616 single base substitution C T intron_variant COAD-US 14 104206616 104206616 single base substitution C T missense_variant E132K 394G>A COAD-US 14 104206616 104206616 single base substitution C T missense_variant E713K 2137G>A COAD-US 14 104206616 104206616 single base substitution C T upstream_gene_variant COAD-US 14 104216204 104216204 single base substitution C T 3_prime_UTR_variant COAD-US 14 104216204 104216204 single base substitution C T downstream_gene_variant COAD-US 14 104216204 104216204 single base substitution C T intron_variant COAD-US 14 104216204 104216204 single base substitution C T missense_variant R299H 896G>A COAD-US 14 104216204 104216204 single base substitution C T upstream_gene_variant COAD-US 14 104219466 104219466 insertion of <=200bp - A 3_prime_UTR_variant COAD-US 14 104219466 104219466 insertion of <=200bp - A downstream_gene_variant COAD-US 14 104219466 104219466 insertion of <=200bp - A frameshift_variant L233L? COAD-US 14 104219466 104219466 insertion of <=200bp - A intron_variant COCA-CN 14 104198969 104198969 single base substitution G A downstream_gene_variant COCA-CN 14 104199460 104199460 single base substitution C A downstream_gene_variant COCA-CN 14 104202438 104202438 single base substitution C T 3_prime_UTR_variant COCA-CN 14 104202438 104202438 single base substitution C T downstream_gene_variant COCA-CN 14 104202438 104202438 single base substitution C T exon_variant COCA-CN 14 104202438 104202438 single base substitution C T intron_variant COCA-CN 14 104202438 104202438 single base substitution C T missense_variant A1045T 3133G>A COCA-CN 14 104203962 104203962 single base substitution C A downstream_gene_variant COCA-CN 14 104203962 104203962 single base substitution C A exon_variant COCA-CN 14 104203962 104203962 single base substitution C A intron_variant COCA-CN 14 104212641 104212641 single base substitution G C downstream_gene_variant COCA-CN 14 104212641 104212641 single base substitution G C intron_variant COCA-CN 14 104212641 104212641 single base substitution G C upstream_gene_variant COCA-CN 14 104242539 104242539 single base substitution A G downstream_gene_variant COCA-CN 14 104242539 104242539 single base substitution A G intron_variant EOPC-DE 14 104255680 104255680 single base substitution C T intron_variant EOPC-DE 14 104269834 104269834 single base substitution G C intron_variant EOPC-DE 14 104278947 104278947 single base substitution T G intron_variant EOPC-DE 14 104315970 104315970 single base substitution C T upstream_gene_variant ESAD-UK 14 104195830 104195830 single base substitution A G downstream_gene_variant ESAD-UK 14 104198471 104198471 insertion of <=200bp - T downstream_gene_variant ESAD-UK 14 104202729 104202729 single base substitution C G downstream_gene_variant ESAD-UK 14 104202729 104202729 single base substitution C G exon_variant ESAD-UK 14 104202729 104202729 single base substitution C G intron_variant ESAD-UK 14 104203920 104203920 deletion of <=200bp A - downstream_gene_variant ESAD-UK 14 104203920 104203920 deletion of <=200bp A - exon_variant ESAD-UK 14 104203920 104203920 deletion of <=200bp A - intron_variant ESAD-UK 14 104207005 104207005 single base substitution A G downstream_gene_variant ESAD-UK 14 104207005 104207005 single base substitution A G intron_variant ESAD-UK 14 104207005 104207005 single base substitution A G upstream_gene_variant ESAD-UK 14 104207317 104207317 single base substitution G A downstream_gene_variant ESAD-UK 14 104207317 104207317 single base substitution G A intron_variant ESAD-UK 14 104207317 104207317 single base substitution G A upstream_gene_variant ESAD-UK 14 104207845 104207845 single base substitution G A downstream_gene_variant ESAD-UK 14 104207845 104207845 single base substitution G A intron_variant ESAD-UK 14 104207845 104207845 single base substitution G A upstream_gene_variant ESAD-UK 14 104209921 104209921 single base substitution C T downstream_gene_variant ESAD-UK 14 104209921 104209921 single base substitution C T intron_variant ESAD-UK 14 104209921 104209921 single base substitution C T upstream_gene_variant ESAD-UK 14 104210467 104210467 single base substitution C T downstream_gene_variant ESAD-UK 14 104210467 104210467 single base substitution C T intron_variant ESAD-UK 14 104210467 104210467 single base substitution C T upstream_gene_variant ESAD-UK 14 104210600 104210600 single base substitution G A downstream_gene_variant ESAD-UK 14 104210600 104210600 single base substitution G A intron_variant ESAD-UK 14 104210600 104210600 single base substitution G A upstream_gene_variant ESAD-UK 14 104210737 104210737 single base substitution C T downstream_gene_variant ESAD-UK 14 104210737 104210737 single base substitution C T intron_variant ESAD-UK 14 104210737 104210737 single base substitution C T upstream_gene_variant ESAD-UK 14 104213411 104213411 single base substitution C A exon_variant ESAD-UK 14 104213411 104213411 single base substitution C A intron_variant ESAD-UK 14 104213411 104213411 single base substitution C A upstream_gene_variant ESAD-UK 14 104218774 104218774 single base substitution C G downstream_gene_variant ESAD-UK 14 104218774 104218774 single base substitution C G intron_variant ESAD-UK 14 104221833 104221833 single base substitution T G downstream_gene_variant ESAD-UK 14 104221833 104221833 single base substitution T G intron_variant ESAD-UK 14 104223052 104223052 single base substitution G A downstream_gene_variant ESAD-UK 14 104223052 104223052 single base substitution G A intron_variant ESAD-UK 14 104226703 104226703 single base substitution A G intron_variant ESAD-UK 14 104228578 104228578 deletion of <=200bp T - intron_variant ESAD-UK 14 104229131 104229131 single base substitution G A intron_variant ESAD-UK 14 104230959 104230959 single base substitution A T intron_variant ESAD-UK 14 104231514 104231514 single base substitution T G intron_variant ESAD-UK 14 104231613 104231613 deletion of <=200bp A - intron_variant ESAD-UK 14 104233838 104233838 insertion of <=200bp - T intron_variant ESAD-UK 14 104234539 104234539 deletion of <=200bp C - intron_variant ESAD-UK 14 104234794 104234794 single base substitution C T intron_variant ESAD-UK 14 104236971 104236971 single base substitution C G intron_variant ESAD-UK 14 104238583 104238583 single base substitution C T intron_variant ESAD-UK 14 104243621 104243621 single base substitution C T downstream_gene_variant ESAD-UK 14 104243621 104243621 single base substitution C T intron_variant ESAD-UK 14 104245559 104245559 single base substitution G A intron_variant ESAD-UK 14 104245854 104245854 single base substitution T C intron_variant ESAD-UK 14 104246196 104246196 single base substitution G A intron_variant ESAD-UK 14 104246697 104246697 single base substitution G A intron_variant ESAD-UK 14 104252628 104252628 single base substitution C T intron_variant ESAD-UK 14 104253264 104253264 single base substitution C T intron_variant ESAD-UK 14 104253473 104253473 single base substitution A C intron_variant ESAD-UK 14 104254229 104254229 single base substitution C T intron_variant ESAD-UK 14 104255568 104255568 single base substitution T G intron_variant ESAD-UK 14 104256348 104256348 single base substitution C T intron_variant ESAD-UK 14 104260178 104260178 single base substitution C T intron_variant ESAD-UK 14 104261311 104261311 single base substitution C A intron_variant ESAD-UK 14 104261313 104261313 single base substitution C T intron_variant ESAD-UK 14 104261420 104261420 single base substitution G A intron_variant ESAD-UK 14 104265519 104265519 insertion of <=200bp - T intron_variant ESAD-UK 14 104266752 104266752 single base substitution G A intron_variant ESAD-UK 14 104268722 104268722 single base substitution A G intron_variant ESAD-UK 14 104268732 104268732 single base substitution T A intron_variant ESAD-UK 14 104274443 104274443 single base substitution G A intron_variant ESAD-UK 14 104276218 104276218 single base substitution C A intron_variant ESAD-UK 14 104277377 104277377 single base substitution C A intron_variant ESAD-UK 14 104279620 104279620 single base substitution C T intron_variant ESAD-UK 14 104280006 104280006 single base substitution C T intron_variant ESAD-UK 14 104280311 104280311 single base substitution T A intron_variant ESAD-UK 14 104283915 104283915 single base substitution T A intron_variant ESAD-UK 14 104291203 104291203 single base substitution C T intron_variant ESAD-UK 14 104292188 104292188 single base substitution T C intron_variant ESAD-UK 14 104292578 104292578 single base substitution G A intron_variant ESAD-UK 14 104296855 104296855 single base substitution C T intron_variant ESAD-UK 14 104297020 104297020 single base substitution A C intron_variant ESAD-UK 14 104297999 104297999 single base substitution G A intron_variant ESAD-UK 14 104298129 104298129 single base substitution C A intron_variant ESAD-UK 14 104301641 104301641 single base substitution T C intron_variant ESAD-UK 14 104303872 104303872 single base substitution T A intron_variant ESAD-UK 14 104303897 104303897 single base substitution C T intron_variant ESAD-UK 14 104314400 104314400 insertion of <=200bp - G upstream_gene_variant ESAD-UK 14 104315485 104315485 single base substitution G C upstream_gene_variant ESAD-UK 14 104317276 104317276 single base substitution G A upstream_gene_variant ESAD-UK 14 104318629 104318629 insertion of <=200bp - G upstream_gene_variant ESCA-CN 14 104196164 104196164 single base substitution G A downstream_gene_variant ESCA-CN 14 104206346 104206346 single base substitution C T 3_prime_UTR_variant ESCA-CN 14 104206346 104206346 single base substitution C T downstream_gene_variant ESCA-CN 14 104206346 104206346 single base substitution C T exon_variant ESCA-CN 14 104206346 104206346 single base substitution C T missense_variant E222K 664G>A ESCA-CN 14 104206346 104206346 single base substitution C T missense_variant E803K 2407G>A ESCA-CN 14 104206346 104206346 single base substitution C T upstream_gene_variant ESCA-CN 14 104206520 104206520 single base substitution G A 3_prime_UTR_variant ESCA-CN 14 104206520 104206520 single base substitution G A downstream_gene_variant ESCA-CN 14 104206520 104206520 single base substitution G A exon_variant ESCA-CN 14 104206520 104206520 single base substitution G A intron_variant ESCA-CN 14 104206520 104206520 single base substitution G A missense_variant P164S 490C>T ESCA-CN 14 104206520 104206520 single base substitution G A missense_variant P745S 2233C>T ESCA-CN 14 104206520 104206520 single base substitution G A upstream_gene_variant ESCA-CN 14 104216175 104216175 single base substitution G A 3_prime_UTR_variant ESCA-CN 14 104216175 104216175 single base substitution G A downstream_gene_variant ESCA-CN 14 104216175 104216175 single base substitution G A intron_variant ESCA-CN 14 104216175 104216175 single base substitution G A stop_gained R309* 925C>T ESCA-CN 14 104216175 104216175 single base substitution G A upstream_gene_variant KIRC-US 14 104206456 104206456 deletion of <=200bp T - 3_prime_UTR_variant KIRC-US 14 104206456 104206456 deletion of <=200bp T - downstream_gene_variant KIRC-US 14 104206456 104206456 deletion of <=200bp T - exon_variant KIRC-US 14 104206456 104206456 deletion of <=200bp T - frameshift_variant N185 KIRC-US 14 104206456 104206456 deletion of <=200bp T - frameshift_variant N766 KIRC-US 14 104206456 104206456 deletion of <=200bp T - intron_variant KIRC-US 14 104206456 104206456 deletion of <=200bp T - upstream_gene_variant KIRC-US 14 104208276 104208276 single base substitution G A 3_prime_UTR_variant KIRC-US 14 104208276 104208276 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 14 104208276 104208276 single base substitution G A downstream_gene_variant KIRC-US 14 104208276 104208276 single base substitution G A exon_variant KIRC-US 14 104208276 104208276 single base substitution G A intron_variant KIRC-US 14 104208276 104208276 single base substitution G A missense_variant A558V 1673C>T KIRC-US 14 104208276 104208276 single base substitution G A upstream_gene_variant LAML-KR 14 104208286 104208286 single base substitution G T 3_prime_UTR_variant LAML-KR 14 104208286 104208286 single base substitution G T 5_prime_UTR_variant LAML-KR 14 104208286 104208286 single base substitution G T downstream_gene_variant LAML-KR 14 104208286 104208286 single base substitution G T exon_variant LAML-KR 14 104208286 104208286 single base substitution G T intron_variant LAML-KR 14 104208286 104208286 single base substitution G T missense_variant P555T 1663C>A LAML-KR 14 104208286 104208286 single base substitution G T upstream_gene_variant LAML-KR 14 104229230 104229230 single base substitution G C intron_variant LAML-KR 14 104229446 104229446 single base substitution C T intron_variant LAML-KR 14 104242523 104242523 single base substitution G A downstream_gene_variant LAML-KR 14 104242523 104242523 single base substitution G A intron_variant LAML-KR 14 104252116 104252116 single base substitution C T intron_variant LAML-KR 14 104255679 104255679 single base substitution C T intron_variant LAML-KR 14 104255680 104255680 single base substitution C T intron_variant LAML-KR 14 104308658 104308658 single base substitution G T intron_variant LAML-KR 14 104308658 104308658 single base substitution G T upstream_gene_variant LICA-FR 14 104212344 104212344 single base substitution T C downstream_gene_variant LICA-FR 14 104212344 104212344 single base substitution T C intron_variant LICA-FR 14 104212344 104212344 single base substitution T C upstream_gene_variant LICA-FR 14 104215474 104215474 single base substitution C T intron_variant LICA-FR 14 104215474 104215474 single base substitution C T upstream_gene_variant LICA-FR 14 104223399 104223399 deletion of <=200bp T - downstream_gene_variant LICA-FR 14 104223399 104223399 deletion of <=200bp T - intron_variant LICA-FR 14 104235355 104235355 single base substitution T C intron_variant LICA-FR 14 104240834 104240834 single base substitution T C downstream_gene_variant LICA-FR 14 104240834 104240834 single base substitution T C intron_variant LICA-FR 14 104261438 104261438 single base substitution C T intron_variant LICA-FR 14 104278428 104278428 single base substitution T A intron_variant LICA-FR 14 104289237 104289237 single base substitution A T intron_variant LICA-FR 14 104310289 104310289 insertion of <=200bp - A intron_variant LICA-FR 14 104310289 104310289 insertion of <=200bp - A upstream_gene_variant LIHC-US 14 104204199 104204199 single base substitution T C downstream_gene_variant LIHC-US 14 104204199 104204199 single base substitution T C intron_variant LIHC-US 14 104204199 104204199 single base substitution T C splice_acceptor_variant LIHC-US 14 104204199 104204199 single base substitution T C upstream_gene_variant LIHC-US 14 104205095 104205095 single base substitution C T 3_prime_UTR_variant LIHC-US 14 104205095 104205095 single base substitution C T downstream_gene_variant LIHC-US 14 104205095 104205095 single base substitution C T exon_variant LIHC-US 14 104205095 104205095 single base substitution C T missense_variant V348I 1042G>A LIHC-US 14 104205095 104205095 single base substitution C T missense_variant V929I 2785G>A LIHC-US 14 104205095 104205095 single base substitution C T upstream_gene_variant LIHC-US 14 104206739 104206739 single base substitution G A 3_prime_UTR_variant LIHC-US 14 104206739 104206739 single base substitution G A downstream_gene_variant LIHC-US 14 104206739 104206739 single base substitution G A exon_variant LIHC-US 14 104206739 104206739 single base substitution G A intron_variant LIHC-US 14 104206739 104206739 single base substitution G A missense_variant P672S 2014C>T LIHC-US 14 104206739 104206739 single base substitution G A missense_variant P91S 271C>T LIHC-US 14 104206739 104206739 single base substitution G A upstream_gene_variant LIHC-US 14 104206859 104206859 single base substitution A G 3_prime_UTR_variant LIHC-US 14 104206859 104206859 single base substitution A G downstream_gene_variant LIHC-US 14 104206859 104206859 single base substitution A G exon_variant LIHC-US 14 104206859 104206859 single base substitution A G intron_variant LIHC-US 14 104206859 104206859 single base substitution A G missense_variant S51P 151T>C LIHC-US 14 104206859 104206859 single base substitution A G missense_variant S632P 1894T>C LIHC-US 14 104206859 104206859 single base substitution A G upstream_gene_variant LIHC-US 14 104209017 104209017 single base substitution A C 3_prime_UTR_variant LIHC-US 14 104209017 104209017 single base substitution A C 5_prime_UTR_variant LIHC-US 14 104209017 104209017 single base substitution A C downstream_gene_variant LIHC-US 14 104209017 104209017 single base substitution A C exon_variant LIHC-US 14 104209017 104209017 single base substitution A C intron_variant LIHC-US 14 104209017 104209017 single base substitution A C missense_variant S432A 1294T>G LIHC-US 14 104209017 104209017 single base substitution A C upstream_gene_variant LINC-JP 14 104202258 104202258 single base substitution C T downstream_gene_variant LINC-JP 14 104202258 104202258 single base substitution C T intron_variant LINC-JP 14 104203151 104203151 insertion of <=200bp - C downstream_gene_variant LINC-JP 14 104203151 104203151 insertion of <=200bp - C exon_variant LINC-JP 14 104203151 104203151 insertion of <=200bp - C intron_variant LINC-JP 14 104203238 104203238 single base substitution T C downstream_gene_variant LINC-JP 14 104203238 104203238 single base substitution T C exon_variant LINC-JP 14 104203238 104203238 single base substitution T C intron_variant LINC-JP 14 104204924 104204924 single base substitution T C downstream_gene_variant LINC-JP 14 104204924 104204924 single base substitution T C exon_variant LINC-JP 14 104204924 104204924 single base substitution T C intron_variant LINC-JP 14 104204924 104204924 single base substitution T C upstream_gene_variant LINC-JP 14 104206386 104206386 single base substitution T A 3_prime_UTR_variant LINC-JP 14 104206386 104206386 single base substitution T A downstream_gene_variant LINC-JP 14 104206386 104206386 single base substitution T A exon_variant LINC-JP 14 104206386 104206386 single base substitution T A synonymous_variant S208S 624A>T LINC-JP 14 104206386 104206386 single base substitution T A synonymous_variant S789S 2367A>T LINC-JP 14 104206386 104206386 single base substitution T A upstream_gene_variant LINC-JP 14 104212999 104212999 single base substitution G T downstream_gene_variant LINC-JP 14 104212999 104212999 single base substitution G T exon_variant LINC-JP 14 104212999 104212999 single base substitution G T intron_variant LINC-JP 14 104212999 104212999 single base substitution G T upstream_gene_variant LINC-JP 14 104236147 104236147 single base substitution C T intron_variant LINC-JP 14 104251189 104251189 single base substitution C T exon_variant LINC-JP 14 104251189 104251189 single base substitution C T intron_variant LINC-JP 14 104251189 104251189 single base substitution C T missense_variant E103K 307G>A LINC-JP 14 104251189 104251189 single base substitution C T missense_variant E71K 211G>A LINC-JP 14 104251189 104251189 single base substitution C T missense_variant E74K 220G>A LINC-JP 14 104253855 104253855 deletion of <=200bp A - intron_variant LINC-JP 14 104260022 104260022 single base substitution T A intron_variant LINC-JP 14 104263628 104263628 single base substitution G A intron_variant LINC-JP 14 104265985 104265985 single base substitution T C intron_variant LINC-JP 14 104296810 104296810 single base substitution T C intron_variant LIRI-JP 14 104198160 104198160 single base substitution C G downstream_gene_variant LIRI-JP 14 104199780 104199780 single base substitution A C downstream_gene_variant LIRI-JP 14 104205104 104205104 single base substitution G A 3_prime_UTR_variant LIRI-JP 14 104205104 104205104 single base substitution G A downstream_gene_variant LIRI-JP 14 104205104 104205104 single base substitution G A exon_variant LIRI-JP 14 104205104 104205104 single base substitution G A missense_variant H345Y 1033C>T LIRI-JP 14 104205104 104205104 single base substitution G A missense_variant H926Y 2776C>T LIRI-JP 14 104205104 104205104 single base substitution G A upstream_gene_variant LIRI-JP 14 104207986 104207986 single base substitution C A downstream_gene_variant LIRI-JP 14 104207986 104207986 single base substitution C A intron_variant LIRI-JP 14 104207986 104207986 single base substitution C A upstream_gene_variant LIRI-JP 14 104218127 104218127 single base substitution T C downstream_gene_variant LIRI-JP 14 104218127 104218127 single base substitution T C intron_variant LIRI-JP 14 104218127 104218127 single base substitution T C upstream_gene_variant LIRI-JP 14 104218592 104218592 single base substitution G A downstream_gene_variant LIRI-JP 14 104218592 104218592 single base substitution G A intron_variant LIRI-JP 14 104218592 104218592 single base substitution G A upstream_gene_variant LIRI-JP 14 104220768 104220768 single base substitution G A downstream_gene_variant LIRI-JP 14 104220768 104220768 single base substitution G A intron_variant LIRI-JP 14 104220974 104220974 single base substitution T C downstream_gene_variant LIRI-JP 14 104220974 104220974 single base substitution T C intron_variant LIRI-JP 14 104221403 104221403 single base substitution G A downstream_gene_variant LIRI-JP 14 104221403 104221403 single base substitution G A intron_variant LIRI-JP 14 104223912 104223912 single base substitution T C downstream_gene_variant LIRI-JP 14 104223912 104223912 single base substitution T C intron_variant LIRI-JP 14 104224681 104224681 single base substitution G A intron_variant LIRI-JP 14 104227370 104227370 single base substitution G A intron_variant LIRI-JP 14 104229119 104229119 single base substitution C T intron_variant LIRI-JP 14 104231838 104231838 single base substitution G C intron_variant LIRI-JP 14 104235242 104235242 single base substitution G C intron_variant LIRI-JP 14 104235674 104235674 single base substitution C T intron_variant LIRI-JP 14 104236597 104236597 single base substitution T C intron_variant LIRI-JP 14 104236950 104236950 insertion of <=200bp - A intron_variant LIRI-JP 14 104237479 104237479 single base substitution A G intron_variant LIRI-JP 14 104238575 104238575 single base substitution T C intron_variant LIRI-JP 14 104238598 104238598 single base substitution T C intron_variant LIRI-JP 14 104240165 104240165 single base substitution G C downstream_gene_variant LIRI-JP 14 104240165 104240165 single base substitution G C intron_variant LIRI-JP 14 104240585 104240585 single base substitution T A downstream_gene_variant LIRI-JP 14 104240585 104240585 single base substitution T A intron_variant LIRI-JP 14 104240664 104240664 single base substitution G C downstream_gene_variant LIRI-JP 14 104240664 104240664 single base substitution G C intron_variant LIRI-JP 14 104241112 104241112 single base substitution T A downstream_gene_variant LIRI-JP 14 104241112 104241112 single base substitution T A intron_variant LIRI-JP 14 104241540 104241540 single base substitution T G downstream_gene_variant LIRI-JP 14 104241540 104241540 single base substitution T G intron_variant LIRI-JP 14 104243338 104243338 single base substitution G A downstream_gene_variant LIRI-JP 14 104243338 104243338 single base substitution G A intron_variant LIRI-JP 14 104243576 104243576 single base substitution G A downstream_gene_variant LIRI-JP 14 104243576 104243576 single base substitution G A intron_variant LIRI-JP 14 104244113 104244113 single base substitution T C downstream_gene_variant LIRI-JP 14 104244113 104244113 single base substitution T C intron_variant LIRI-JP 14 104244377 104244377 single base substitution C T downstream_gene_variant LIRI-JP 14 104244377 104244377 single base substitution C T intron_variant LIRI-JP 14 104245319 104245319 single base substitution A G intron_variant LIRI-JP 14 104250668 104250668 single base substitution C T intron_variant LIRI-JP 14 104253014 104253014 single base substitution A C intron_variant LIRI-JP 14 104254661 104254661 single base substitution A G intron_variant LIRI-JP 14 104256705 104256705 single base substitution C T intron_variant LIRI-JP 14 104257134 104257134 single base substitution G A intron_variant LIRI-JP 14 104264000 104264000 single base substitution T C intron_variant LIRI-JP 14 104266931 104266931 single base substitution G A intron_variant LIRI-JP 14 104267320 104267320 single base substitution T A intron_variant LIRI-JP 14 104268020 104268020 single base substitution C A intron_variant LIRI-JP 14 104268113 104268113 single base substitution T C intron_variant LIRI-JP 14 104268482 104268482 single base substitution G A intron_variant LIRI-JP 14 104269863 104269863 single base substitution C T intron_variant LIRI-JP 14 104271541 104271541 single base substitution G A intron_variant LIRI-JP 14 104275019 104275019 single base substitution G A intron_variant LIRI-JP 14 104275320 104275320 single base substitution G A intron_variant LIRI-JP 14 104279402 104279402 single base substitution G A intron_variant LIRI-JP 14 104280858 104280858 single base substitution G A intron_variant LIRI-JP 14 104284956 104284956 single base substitution T C intron_variant LIRI-JP 14 104285668 104285668 single base substitution C A intron_variant LIRI-JP 14 104286336 104286336 single base substitution C G intron_variant LIRI-JP 14 104290261 104290261 single base substitution C T intron_variant LIRI-JP 14 104290312 104290312 single base substitution A C intron_variant LIRI-JP 14 104291299 104291299 single base substitution T C intron_variant LIRI-JP 14 104291783 104291783 single base substitution A C intron_variant LIRI-JP 14 104292492 104292492 single base substitution C A intron_variant LIRI-JP 14 104292844 104292844 single base substitution T C intron_variant LIRI-JP 14 104294280 104294280 single base substitution T C intron_variant LIRI-JP 14 104296561 104296561 single base substitution T C intron_variant LIRI-JP 14 104301180 104301180 single base substitution T C intron_variant LIRI-JP 14 104303332 104303332 single base substitution C T intron_variant LIRI-JP 14 104308205 104308205 single base substitution T C intron_variant LIRI-JP 14 104308205 104308205 single base substitution T C upstream_gene_variant LIRI-JP 14 104310241 104310241 single base substitution G C intron_variant LIRI-JP 14 104310241 104310241 single base substitution G C upstream_gene_variant LIRI-JP 14 104310760 104310760 single base substitution T C intron_variant LIRI-JP 14 104310760 104310760 single base substitution T C upstream_gene_variant LIRI-JP 14 104312248 104312248 single base substitution T C intron_variant LUSC-KR 14 104196100 104196100 single base substitution C A downstream_gene_variant LUSC-KR 14 104204450 104204450 single base substitution G A downstream_gene_variant LUSC-KR 14 104204450 104204450 single base substitution G A intron_variant LUSC-KR 14 104204450 104204450 single base substitution G A upstream_gene_variant LUSC-KR 14 104212949 104212949 single base substitution T C downstream_gene_variant LUSC-KR 14 104212949 104212949 single base substitution T C intron_variant LUSC-KR 14 104212949 104212949 single base substitution T C upstream_gene_variant LUSC-KR 14 104220036 104220036 single base substitution T C downstream_gene_variant LUSC-KR 14 104220036 104220036 single base substitution T C intron_variant LUSC-KR 14 104228952 104228952 single base substitution T A intron_variant LUSC-KR 14 104229570 104229570 single base substitution C A intron_variant LUSC-KR 14 104233681 104233681 single base substitution T A intron_variant LUSC-KR 14 104241083 104241083 single base substitution T A downstream_gene_variant LUSC-KR 14 104241083 104241083 single base substitution T A intron_variant LUSC-KR 14 104245459 104245459 single base substitution C T intron_variant LUSC-KR 14 104247129 104247129 single base substitution G A intron_variant LUSC-KR 14 104250980 104250980 single base substitution G A intron_variant LUSC-KR 14 104253049 104253049 single base substitution C A intron_variant LUSC-KR 14 104253213 104253213 single base substitution T C intron_variant LUSC-KR 14 104254083 104254083 single base substitution G C intron_variant LUSC-KR 14 104282237 104282237 single base substitution G A intron_variant LUSC-KR 14 104282642 104282642 single base substitution G C intron_variant LUSC-KR 14 104294727 104294727 single base substitution T A intron_variant LUSC-KR 14 104305568 104305568 single base substitution C A intron_variant LUSC-KR 14 104311688 104311688 single base substitution T C intron_variant LUSC-KR 14 104316257 104316257 single base substitution G T upstream_gene_variant LUSC-KR 14 104318143 104318143 single base substitution C T upstream_gene_variant LUSC-KR 14 104318667 104318667 single base substitution G T upstream_gene_variant LUSC-US 14 104202520 104202520 single base substitution A G 3_prime_UTR_variant LUSC-US 14 104202520 104202520 single base substitution A G downstream_gene_variant LUSC-US 14 104202520 104202520 single base substitution A G exon_variant LUSC-US 14 104202520 104202520 single base substitution A G intron_variant LUSC-US 14 104202520 104202520 single base substitution A G missense_variant C381R 1141T>C LUSC-US 14 104202520 104202520 single base substitution A G synonymous_variant G1017G 3051T>C LUSC-US 14 104206296 104206296 single base substitution G A 3_prime_UTR_variant LUSC-US 14 104206296 104206296 single base substitution G A downstream_gene_variant LUSC-US 14 104206296 104206296 single base substitution G A exon_variant LUSC-US 14 104206296 104206296 single base substitution G A synonymous_variant D238D 714C>T LUSC-US 14 104206296 104206296 single base substitution G A synonymous_variant D819D 2457C>T LUSC-US 14 104206296 104206296 single base substitution G A upstream_gene_variant LUSC-US 14 104206338 104206338 single base substitution G A 3_prime_UTR_variant LUSC-US 14 104206338 104206338 single base substitution G A downstream_gene_variant LUSC-US 14 104206338 104206338 single base substitution G A exon_variant LUSC-US 14 104206338 104206338 single base substitution G A synonymous_variant I224I 672C>T LUSC-US 14 104206338 104206338 single base substitution G A synonymous_variant I805I 2415C>T LUSC-US 14 104206338 104206338 single base substitution G A upstream_gene_variant LUSC-US 14 104206650 104206650 single base substitution C A 3_prime_UTR_variant LUSC-US 14 104206650 104206650 single base substitution C A downstream_gene_variant LUSC-US 14 104206650 104206650 single base substitution C A exon_variant LUSC-US 14 104206650 104206650 single base substitution C A intron_variant LUSC-US 14 104206650 104206650 single base substitution C A synonymous_variant A120A 360G>T LUSC-US 14 104206650 104206650 single base substitution C A synonymous_variant A701A 2103G>T LUSC-US 14 104206650 104206650 single base substitution C A upstream_gene_variant LUSC-US 14 104208264 104208264 single base substitution G C 3_prime_UTR_variant LUSC-US 14 104208264 104208264 single base substitution G C 5_prime_UTR_variant LUSC-US 14 104208264 104208264 single base substitution G C downstream_gene_variant LUSC-US 14 104208264 104208264 single base substitution G C exon_variant LUSC-US 14 104208264 104208264 single base substitution G C intron_variant LUSC-US 14 104208264 104208264 single base substitution G C stop_gained S562* 1685C>G LUSC-US 14 104208264 104208264 single base substitution G C upstream_gene_variant LUSC-US 14 104208451 104208451 single base substitution G T 3_prime_UTR_variant LUSC-US 14 104208451 104208451 single base substitution G T 5_prime_UTR_variant LUSC-US 14 104208451 104208451 single base substitution G T downstream_gene_variant LUSC-US 14 104208451 104208451 single base substitution G T exon_variant LUSC-US 14 104208451 104208451 single base substitution G T intron_variant LUSC-US 14 104208451 104208451 single base substitution G T missense_variant P500T 1498C>A LUSC-US 14 104208451 104208451 single base substitution G T upstream_gene_variant LUSC-US 14 104209151 104209151 single base substitution C G 3_prime_UTR_variant LUSC-US 14 104209151 104209151 single base substitution C G 5_prime_UTR_variant LUSC-US 14 104209151 104209151 single base substitution C G downstream_gene_variant LUSC-US 14 104209151 104209151 single base substitution C G exon_variant LUSC-US 14 104209151 104209151 single base substitution C G intron_variant LUSC-US 14 104209151 104209151 single base substitution C G missense_variant G387A 1160G>C LUSC-US 14 104209151 104209151 single base substitution C G upstream_gene_variant LUSC-US 14 104251219 104251219 single base substitution C A exon_variant LUSC-US 14 104251219 104251219 single base substitution C A intron_variant LUSC-US 14 104251219 104251219 single base substitution C A stop_gained E61* 181G>T LUSC-US 14 104251219 104251219 single base substitution C A stop_gained E64* 190G>T LUSC-US 14 104251219 104251219 single base substitution C A stop_gained E93* 277G>T LUSC-US 14 104251226 104251226 single base substitution C G exon_variant LUSC-US 14 104251226 104251226 single base substitution C G intron_variant LUSC-US 14 104251226 104251226 single base substitution C G missense_variant M58I 174G>C LUSC-US 14 104251226 104251226 single base substitution C G missense_variant M61I 183G>C LUSC-US 14 104251226 104251226 single base substitution C G missense_variant M90I 270G>C MALY-DE 14 104195258 104195258 single base substitution C T downstream_gene_variant MALY-DE 14 104200391 104200391 single base substitution T A 3_prime_UTR_variant MALY-DE 14 104200391 104200391 single base substitution T A downstream_gene_variant MALY-DE 14 104200391 104200391 single base substitution T A exon_variant MALY-DE 14 104200391 104200391 single base substitution T A intron_variant MALY-DE 14 104206822 104206822 single base substitution C T 3_prime_UTR_variant MALY-DE 14 104206822 104206822 single base substitution C T downstream_gene_variant MALY-DE 14 104206822 104206822 single base substitution C T exon_variant MALY-DE 14 104206822 104206822 single base substitution C T intron_variant MALY-DE 14 104206822 104206822 single base substitution C T missense_variant S63N 188G>A MALY-DE 14 104206822 104206822 single base substitution C T missense_variant S644N 1931G>A MALY-DE 14 104206822 104206822 single base substitution C T upstream_gene_variant MALY-DE 14 104212016 104212016 single base substitution T G downstream_gene_variant MALY-DE 14 104212016 104212016 single base substitution T G intron_variant MALY-DE 14 104212016 104212016 single base substitution T G upstream_gene_variant MALY-DE 14 104213094 104213094 single base substitution A G exon_variant MALY-DE 14 104213094 104213094 single base substitution A G intron_variant MALY-DE 14 104213094 104213094 single base substitution A G upstream_gene_variant MALY-DE 14 104219592 104219592 single base substitution T A downstream_gene_variant MALY-DE 14 104219592 104219592 single base substitution T A intron_variant MALY-DE 14 104222006 104222006 single base substitution A G downstream_gene_variant MALY-DE 14 104222006 104222006 single base substitution A G intron_variant MALY-DE 14 104227183 104227183 single base substitution T A intron_variant MALY-DE 14 104230241 104230241 single base substitution T A 3_prime_UTR_variant MALY-DE 14 104230241 104230241 single base substitution T A intron_variant MALY-DE 14 104230353 104230353 single base substitution C A 3_prime_UTR_variant MALY-DE 14 104230353 104230353 single base substitution C A intron_variant MALY-DE 14 104231459 104231459 single base substitution C T intron_variant MALY-DE 14 104233124 104233124 single base substitution T C intron_variant MALY-DE 14 104235743 104235743 single base substitution T A intron_variant MALY-DE 14 104251162 104251162 single base substitution C T exon_variant MALY-DE 14 104251162 104251162 single base substitution C T intron_variant MALY-DE 14 104251162 104251162 single base substitution C T missense_variant E112K 334G>A MALY-DE 14 104251162 104251162 single base substitution C T missense_variant E80K 238G>A MALY-DE 14 104251162 104251162 single base substitution C T missense_variant E83K 247G>A MALY-DE 14 104265584 104265584 single base substitution C T intron_variant MALY-DE 14 104270592 104270592 single base substitution C T intron_variant MALY-DE 14 104272300 104272300 single base substitution A T intron_variant MALY-DE 14 104276480 104276480 single base substitution G T intron_variant MALY-DE 14 104277839 104277839 single base substitution A T intron_variant MALY-DE 14 104277847 104277847 single base substitution A G intron_variant MALY-DE 14 104283558 104283558 single base substitution T A intron_variant MALY-DE 14 104297805 104297805 single base substitution A G intron_variant MALY-DE 14 104303217 104303217 single base substitution A T intron_variant MALY-DE 14 104304302 104304302 single base substitution A T intron_variant MALY-DE 14 104305348 104305348 single base substitution C A intron_variant MALY-DE 14 104307334 104307334 single base substitution A T intron_variant MALY-DE 14 104307334 104307334 single base substitution A T upstream_gene_variant MALY-DE 14 104309621 104309621 single base substitution G C intron_variant MALY-DE 14 104309621 104309621 single base substitution G C upstream_gene_variant MELA-AU 14 104195845 104195845 single base substitution A G downstream_gene_variant MELA-AU 14 104195913 104195913 single base substitution G A downstream_gene_variant MELA-AU 14 104196494 104196494 single base substitution C T downstream_gene_variant MELA-AU 14 104196703 104196703 single base substitution G A downstream_gene_variant MELA-AU 14 104197396 104197396 single base substitution C T downstream_gene_variant MELA-AU 14 104197569 104197570 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 104198394 104198394 single base substitution C T downstream_gene_variant MELA-AU 14 104198425 104198425 single base substitution C T downstream_gene_variant MELA-AU 14 104200042 104200042 single base substitution C T downstream_gene_variant MELA-AU 14 104200920 104200920 single base substitution C T 3_prime_UTR_variant MELA-AU 14 104200920 104200920 single base substitution C T downstream_gene_variant MELA-AU 14 104200920 104200920 single base substitution C T exon_variant MELA-AU 14 104201396 104201396 single base substitution C T 3_prime_UTR_variant MELA-AU 14 104201396 104201396 single base substitution C T downstream_gene_variant MELA-AU 14 104201396 104201396 single base substitution C T exon_variant MELA-AU 14 104202256 104202256 single base substitution T G downstream_gene_variant MELA-AU 14 104202256 104202256 single base substitution T G intron_variant MELA-AU 14 104202996 104202996 single base substitution G A downstream_gene_variant MELA-AU 14 104202996 104202996 single base substitution G A exon_variant MELA-AU 14 104202996 104202996 single base substitution G A intron_variant MELA-AU 14 104203563 104203563 single base substitution G A downstream_gene_variant MELA-AU 14 104203563 104203563 single base substitution G A exon_variant MELA-AU 14 104203563 104203563 single base substitution G A intron_variant MELA-AU 14 104204906 104204906 single base substitution C T downstream_gene_variant MELA-AU 14 104204906 104204906 single base substitution C T exon_variant MELA-AU 14 104204906 104204906 single base substitution C T intron_variant MELA-AU 14 104204906 104204906 single base substitution C T upstream_gene_variant MELA-AU 14 104205311 104205311 single base substitution C T 3_prime_UTR_variant MELA-AU 14 104205311 104205311 single base substitution C T downstream_gene_variant MELA-AU 14 104205311 104205311 single base substitution C T exon_variant MELA-AU 14 104205311 104205311 single base substitution C T missense_variant G300E 899G>A MELA-AU 14 104205311 104205311 single base substitution C T missense_variant G881E 2642G>A MELA-AU 14 104205311 104205311 single base substitution C T upstream_gene_variant MELA-AU 14 104205366 104205366 single base substitution G A downstream_gene_variant MELA-AU 14 104205366 104205366 single base substitution G A exon_variant MELA-AU 14 104205366 104205366 single base substitution G A splice_region_variant MELA-AU 14 104205366 104205366 single base substitution G A upstream_gene_variant MELA-AU 14 104206047 104206047 single base substitution G A downstream_gene_variant MELA-AU 14 104206047 104206047 single base substitution G A intron_variant MELA-AU 14 104206047 104206047 single base substitution G A upstream_gene_variant MELA-AU 14 104206319 104206319 single base substitution G A 3_prime_UTR_variant MELA-AU 14 104206319 104206319 single base substitution G A downstream_gene_variant MELA-AU 14 104206319 104206319 single base substitution G A exon_variant MELA-AU 14 104206319 104206319 single base substitution G A stop_gained Q231* 691C>T MELA-AU 14 104206319 104206319 single base substitution G A stop_gained Q812* 2434C>T MELA-AU 14 104206319 104206319 single base substitution G A upstream_gene_variant MELA-AU 14 104206472 104206472 single base substitution C T 3_prime_UTR_variant MELA-AU 14 104206472 104206472 single base substitution C T downstream_gene_variant MELA-AU 14 104206472 104206472 single base substitution C T exon_variant MELA-AU 14 104206472 104206472 single base substitution C T intron_variant MELA-AU 14 104206472 104206472 single base substitution C T missense_variant G180R 538G>A MELA-AU 14 104206472 104206472 single base substitution C T missense_variant G761R 2281G>A MELA-AU 14 104206472 104206472 single base substitution C T upstream_gene_variant MELA-AU 14 104206948 104206948 single base substitution G A downstream_gene_variant MELA-AU 14 104206948 104206948 single base substitution G A intron_variant MELA-AU 14 104206948 104206948 single base substitution G A upstream_gene_variant MELA-AU 14 104207875 104207875 single base substitution C A downstream_gene_variant MELA-AU 14 104207875 104207875 single base substitution C A intron_variant MELA-AU 14 104207875 104207875 single base substitution C A upstream_gene_variant MELA-AU 14 104208206 104208206 single base substitution G A 3_prime_UTR_variant MELA-AU 14 104208206 104208206 single base substitution G A 5_prime_UTR_variant MELA-AU 14 104208206 104208206 single base substitution G A downstream_gene_variant MELA-AU 14 104208206 104208206 single base substitution G A exon_variant MELA-AU 14 104208206 104208206 single base substitution G A intron_variant MELA-AU 14 104208206 104208206 single base substitution G A synonymous_variant S581S 1743C>T MELA-AU 14 104208206 104208206 single base substitution G A upstream_gene_variant MELA-AU 14 104208499 104208499 single base substitution C T 3_prime_UTR_variant MELA-AU 14 104208499 104208499 single base substitution C T 5_prime_UTR_variant MELA-AU 14 104208499 104208499 single base substitution C T downstream_gene_variant MELA-AU 14 104208499 104208499 single base substitution C T exon_variant MELA-AU 14 104208499 104208499 single base substitution C T intron_variant MELA-AU 14 104208499 104208499 single base substitution C T missense_variant E484K 1450G>A MELA-AU 14 104208499 104208499 single base substitution C T upstream_gene_variant MELA-AU 14 104208739 104208739 single base substitution G A downstream_gene_variant MELA-AU 14 104208739 104208739 single base substitution G A intron_variant MELA-AU 14 104208739 104208739 single base substitution G A upstream_gene_variant MELA-AU 14 104208837 104208838 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 14 104208837 104208838 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 14 104208837 104208838 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 14 104208895 104208895 single base substitution C A downstream_gene_variant MELA-AU 14 104208895 104208895 single base substitution C A intron_variant MELA-AU 14 104208895 104208895 single base substitution C A upstream_gene_variant MELA-AU 14 104209431 104209431 single base substitution C T downstream_gene_variant MELA-AU 14 104209431 104209431 single base substitution C T intron_variant MELA-AU 14 104209431 104209431 single base substitution C T upstream_gene_variant MELA-AU 14 104209723 104209723 single base substitution C T downstream_gene_variant MELA-AU 14 104209723 104209723 single base substitution C T intron_variant MELA-AU 14 104209723 104209723 single base substitution C T upstream_gene_variant MELA-AU 14 104210301 104210301 single base substitution C G downstream_gene_variant MELA-AU 14 104210301 104210301 single base substitution C G exon_variant MELA-AU 14 104210301 104210301 single base substitution C G intron_variant MELA-AU 14 104210301 104210301 single base substitution C G upstream_gene_variant MELA-AU 14 104210397 104210397 single base substitution G A downstream_gene_variant MELA-AU 14 104210397 104210397 single base substitution G A intron_variant MELA-AU 14 104210397 104210397 single base substitution G A upstream_gene_variant MELA-AU 14 104210459 104210459 single base substitution G A downstream_gene_variant MELA-AU 14 104210459 104210459 single base substitution G A intron_variant MELA-AU 14 104210459 104210459 single base substitution G A upstream_gene_variant MELA-AU 14 104210850 104210850 single base substitution G A downstream_gene_variant MELA-AU 14 104210850 104210850 single base substitution G A intron_variant MELA-AU 14 104210850 104210850 single base substitution G A upstream_gene_variant MELA-AU 14 104211615 104211615 single base substitution G A downstream_gene_variant MELA-AU 14 104211615 104211615 single base substitution G A intron_variant MELA-AU 14 104211615 104211615 single base substitution G A upstream_gene_variant MELA-AU 14 104211958 104211958 single base substitution G A downstream_gene_variant MELA-AU 14 104211958 104211958 single base substitution G A intron_variant MELA-AU 14 104211958 104211958 single base substitution G A upstream_gene_variant MELA-AU 14 104212050 104212050 single base substitution G A downstream_gene_variant MELA-AU 14 104212050 104212050 single base substitution G A intron_variant MELA-AU 14 104212050 104212050 single base substitution G A upstream_gene_variant MELA-AU 14 104212315 104212315 single base substitution G T downstream_gene_variant MELA-AU 14 104212315 104212315 single base substitution G T intron_variant MELA-AU 14 104212315 104212315 single base substitution G T upstream_gene_variant MELA-AU 14 104212413 104212413 single base substitution G A downstream_gene_variant MELA-AU 14 104212413 104212413 single base substitution G A intron_variant MELA-AU 14 104212413 104212413 single base substitution G A upstream_gene_variant MELA-AU 14 104212570 104212570 single base substitution C T downstream_gene_variant MELA-AU 14 104212570 104212570 single base substitution C T intron_variant MELA-AU 14 104212570 104212570 single base substitution C T upstream_gene_variant MELA-AU 14 104212810 104212810 single base substitution G A 3_prime_UTR_variant MELA-AU 14 104212810 104212810 single base substitution G A 5_prime_UTR_variant MELA-AU 14 104212810 104212810 single base substitution G A downstream_gene_variant MELA-AU 14 104212810 104212810 single base substitution G A exon_variant MELA-AU 14 104212810 104212810 single base substitution G A intron_variant MELA-AU 14 104212810 104212810 single base substitution G A synonymous_variant I350I 1050C>T MELA-AU 14 104212810 104212810 single base substitution G A upstream_gene_variant MELA-AU 14 104212841 104212841 single base substitution G A 3_prime_UTR_variant MELA-AU 14 104212841 104212841 single base substitution G A downstream_gene_variant MELA-AU 14 104212841 104212841 single base substitution G A exon_variant MELA-AU 14 104212841 104212841 single base substitution G A intron_variant MELA-AU 14 104212841 104212841 single base substitution G A missense_variant S340L 1019C>T MELA-AU 14 104212841 104212841 single base substitution G A upstream_gene_variant MELA-AU 14 104214146 104214146 single base substitution A G intron_variant MELA-AU 14 104214146 104214146 single base substitution A G upstream_gene_variant MELA-AU 14 104214534 104214534 single base substitution G T intron_variant MELA-AU 14 104214534 104214534 single base substitution G T upstream_gene_variant MELA-AU 14 104214536 104214536 single base substitution A T intron_variant MELA-AU 14 104214536 104214536 single base substitution A T upstream_gene_variant MELA-AU 14 104215009 104215009 single base substitution C T intron_variant MELA-AU 14 104215009 104215009 single base substitution C T upstream_gene_variant MELA-AU 14 104215125 104215125 single base substitution G A intron_variant MELA-AU 14 104215125 104215125 single base substitution G A upstream_gene_variant MELA-AU 14 104215313 104215313 single base substitution G A intron_variant MELA-AU 14 104215313 104215313 single base substitution G A upstream_gene_variant MELA-AU 14 104215352 104215352 single base substitution A G intron_variant MELA-AU 14 104215352 104215352 single base substitution A G upstream_gene_variant MELA-AU 14 104215379 104215379 single base substitution C T intron_variant MELA-AU 14 104215379 104215379 single base substitution C T upstream_gene_variant MELA-AU 14 104216349 104216349 single base substitution G A downstream_gene_variant MELA-AU 14 104216349 104216349 single base substitution G A intron_variant MELA-AU 14 104216349 104216349 single base substitution G A upstream_gene_variant MELA-AU 14 104217095 104217095 single base substitution G A downstream_gene_variant MELA-AU 14 104217095 104217095 single base substitution G A intron_variant MELA-AU 14 104217095 104217095 single base substitution G A upstream_gene_variant MELA-AU 14 104218635 104218635 single base substitution G A downstream_gene_variant MELA-AU 14 104218635 104218635 single base substitution G A intron_variant MELA-AU 14 104218635 104218635 single base substitution G A upstream_gene_variant MELA-AU 14 104218801 104218801 single base substitution C T downstream_gene_variant MELA-AU 14 104218801 104218801 single base substitution C T intron_variant MELA-AU 14 104218861 104218861 single base substitution G A downstream_gene_variant MELA-AU 14 104218861 104218861 single base substitution G A intron_variant MELA-AU 14 104218914 104218914 single base substitution C T downstream_gene_variant MELA-AU 14 104218914 104218914 single base substitution C T intron_variant MELA-AU 14 104219013 104219013 single base substitution G A downstream_gene_variant MELA-AU 14 104219013 104219013 single base substitution G A intron_variant MELA-AU 14 104219500 104219500 single base substitution T C 3_prime_UTR_variant MELA-AU 14 104219500 104219500 single base substitution T C downstream_gene_variant MELA-AU 14 104219500 104219500 single base substitution T C intron_variant MELA-AU 14 104219500 104219500 single base substitution T C missense_variant Q222R 665A>G MELA-AU 14 104219831 104219831 single base substitution C T downstream_gene_variant MELA-AU 14 104219831 104219831 single base substitution C T intron_variant MELA-AU 14 104220387 104220387 single base substitution G A downstream_gene_variant MELA-AU 14 104220387 104220387 single base substitution G A intron_variant MELA-AU 14 104220458 104220458 single base substitution G A 3_prime_UTR_variant MELA-AU 14 104220458 104220458 single base substitution G A downstream_gene_variant MELA-AU 14 104220458 104220458 single base substitution G A intron_variant MELA-AU 14 104220458 104220458 single base substitution G A missense_variant R194C 580C>T MELA-AU 14 104220591 104220591 single base substitution G A downstream_gene_variant MELA-AU 14 104220591 104220591 single base substitution G A intron_variant MELA-AU 14 104220681 104220681 single base substitution C T downstream_gene_variant MELA-AU 14 104220681 104220681 single base substitution C T intron_variant MELA-AU 14 104220826 104220826 single base substitution G A downstream_gene_variant MELA-AU 14 104220826 104220826 single base substitution G A intron_variant MELA-AU 14 104221141 104221141 single base substitution G A downstream_gene_variant MELA-AU 14 104221141 104221141 single base substitution G A intron_variant MELA-AU 14 104221180 104221180 single base substitution G A downstream_gene_variant MELA-AU 14 104221180 104221180 single base substitution G A intron_variant MELA-AU 14 104221211 104221211 single base substitution G A downstream_gene_variant MELA-AU 14 104221211 104221211 single base substitution G A intron_variant MELA-AU 14 104221268 104221268 single base substitution C T downstream_gene_variant MELA-AU 14 104221268 104221268 single base substitution C T intron_variant MELA-AU 14 104221624 104221624 single base substitution G A downstream_gene_variant MELA-AU 14 104221624 104221624 single base substitution G A intron_variant MELA-AU 14 104221877 104221877 single base substitution A G downstream_gene_variant MELA-AU 14 104221877 104221877 single base substitution A G intron_variant MELA-AU 14 104222519 104222519 single base substitution C T downstream_gene_variant MELA-AU 14 104222519 104222519 single base substitution C T intron_variant MELA-AU 14 104223245 104223245 single base substitution G A downstream_gene_variant MELA-AU 14 104223245 104223245 single base substitution G A intron_variant MELA-AU 14 104224063 104224063 single base substitution G A 3_prime_UTR_variant MELA-AU 14 104224063 104224063 single base substitution G A exon_variant MELA-AU 14 104224063 104224063 single base substitution G A intron_variant MELA-AU 14 104224063 104224063 single base substitution G A missense_variant T124I 371C>T MELA-AU 14 104224063 104224063 single base substitution G A missense_variant T127I 380C>T MELA-AU 14 104224111 104224111 single base substitution G A intron_variant MELA-AU 14 104225431 104225431 single base substitution G A intron_variant MELA-AU 14 104225483 104225483 single base substitution G A intron_variant MELA-AU 14 104225565 104225565 single base substitution G A exon_variant MELA-AU 14 104225565 104225565 single base substitution G A intron_variant MELA-AU 14 104226222 104226222 single base substitution C T intron_variant MELA-AU 14 104226517 104226517 single base substitution G A intron_variant MELA-AU 14 104226577 104226577 single base substitution G A intron_variant MELA-AU 14 104228705 104228705 single base substitution G A intron_variant MELA-AU 14 104229067 104229067 single base substitution G A intron_variant MELA-AU 14 104229391 104229391 single base substitution C T intron_variant MELA-AU 14 104230091 104230091 single base substitution G A intron_variant MELA-AU 14 104231346 104231346 single base substitution G A intron_variant MELA-AU 14 104231618 104231618 single base substitution A T intron_variant MELA-AU 14 104231787 104231787 single base substitution C A intron_variant MELA-AU 14 104231864 104231864 single base substitution A G intron_variant MELA-AU 14 104231951 104231951 single base substitution C T intron_variant MELA-AU 14 104233035 104233035 single base substitution C T intron_variant MELA-AU 14 104233048 104233048 single base substitution G A intron_variant MELA-AU 14 104233112 104233123 deletion of <=200bp TTTTTGTATTTT - intron_variant MELA-AU 14 104233229 104233229 single base substitution G A intron_variant MELA-AU 14 104233239 104233239 single base substitution G A intron_variant MELA-AU 14 104233409 104233409 single base substitution G A intron_variant MELA-AU 14 104233859 104233859 single base substitution C T intron_variant MELA-AU 14 104234904 104234904 single base substitution G A intron_variant MELA-AU 14 104235030 104235031 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 104235292 104235292 single base substitution A C intron_variant MELA-AU 14 104235558 104235558 single base substitution G A intron_variant MELA-AU 14 104236016 104236016 single base substitution G A intron_variant MELA-AU 14 104236705 104236705 single base substitution A T intron_variant MELA-AU 14 104237460 104237460 single base substitution G A intron_variant MELA-AU 14 104238087 104238087 single base substitution G A intron_variant MELA-AU 14 104238270 104238270 single base substitution C T intron_variant MELA-AU 14 104238584 104238584 single base substitution G A intron_variant MELA-AU 14 104238637 104238637 single base substitution G A intron_variant MELA-AU 14 104239309 104239309 single base substitution C T intron_variant MELA-AU 14 104239523 104239523 single base substitution G A intron_variant MELA-AU 14 104239743 104239743 single base substitution C T intron_variant MELA-AU 14 104239751 104239751 single base substitution G A intron_variant MELA-AU 14 104239844 104239844 single base substitution G A intron_variant MELA-AU 14 104239866 104239866 single base substitution A G intron_variant MELA-AU 14 104240279 104240279 single base substitution C T downstream_gene_variant MELA-AU 14 104240279 104240279 single base substitution C T intron_variant MELA-AU 14 104240638 104240638 single base substitution G A downstream_gene_variant MELA-AU 14 104240638 104240638 single base substitution G A intron_variant MELA-AU 14 104241104 104241104 single base substitution G A downstream_gene_variant MELA-AU 14 104241104 104241104 single base substitution G A intron_variant MELA-AU 14 104241306 104241306 single base substitution G A downstream_gene_variant MELA-AU 14 104241306 104241306 single base substitution G A intron_variant MELA-AU 14 104241358 104241358 single base substitution G A downstream_gene_variant MELA-AU 14 104241358 104241358 single base substitution G A intron_variant MELA-AU 14 104241712 104241712 single base substitution G A downstream_gene_variant MELA-AU 14 104241712 104241712 single base substitution G A intron_variant MELA-AU 14 104242131 104242131 single base substitution G A downstream_gene_variant MELA-AU 14 104242131 104242131 single base substitution G A intron_variant MELA-AU 14 104242146 104242146 single base substitution G A downstream_gene_variant MELA-AU 14 104242146 104242146 single base substitution G A intron_variant MELA-AU 14 104242310 104242310 single base substitution G A downstream_gene_variant MELA-AU 14 104242310 104242310 single base substitution G A intron_variant MELA-AU 14 104242522 104242522 single base substitution G A downstream_gene_variant MELA-AU 14 104242522 104242522 single base substitution G A intron_variant MELA-AU 14 104243018 104243018 single base substitution G A downstream_gene_variant MELA-AU 14 104243018 104243018 single base substitution G A intron_variant MELA-AU 14 104243027 104243027 single base substitution G A downstream_gene_variant MELA-AU 14 104243027 104243027 single base substitution G A intron_variant MELA-AU 14 104243587 104243587 single base substitution C T downstream_gene_variant MELA-AU 14 104243587 104243587 single base substitution C T intron_variant MELA-AU 14 104243914 104243914 single base substitution G A downstream_gene_variant MELA-AU 14 104243914 104243914 single base substitution G A intron_variant MELA-AU 14 104244027 104244027 single base substitution A T downstream_gene_variant MELA-AU 14 104244027 104244027 single base substitution A T intron_variant MELA-AU 14 104245697 104245697 single base substitution T G intron_variant MELA-AU 14 104246170 104246170 single base substitution A G intron_variant MELA-AU 14 104246287 104246287 single base substitution G A intron_variant MELA-AU 14 104246571 104246571 single base substitution C T intron_variant MELA-AU 14 104247103 104247103 single base substitution C G intron_variant MELA-AU 14 104247581 104247581 single base substitution C T intron_variant MELA-AU 14 104247971 104247971 single base substitution G T intron_variant MELA-AU 14 104248273 104248273 single base substitution G A intron_variant MELA-AU 14 104249276 104249276 single base substitution G A intron_variant MELA-AU 14 104249378 104249378 single base substitution G A intron_variant MELA-AU 14 104249720 104249720 single base substitution C T intron_variant MELA-AU 14 104249992 104249992 single base substitution G A intron_variant MELA-AU 14 104251397 104251397 single base substitution C T intron_variant MELA-AU 14 104251812 104251813 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 104253187 104253187 single base substitution C T intron_variant MELA-AU 14 104253577 104253577 single base substitution G A intron_variant MELA-AU 14 104254180 104254180 single base substitution G A intron_variant MELA-AU 14 104254438 104254438 single base substitution G A intron_variant MELA-AU 14 104254581 104254581 single base substitution A G intron_variant MELA-AU 14 104254967 104254967 single base substitution G A intron_variant MELA-AU 14 104255380 104255380 single base substitution G T intron_variant MELA-AU 14 104255932 104255933 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 14 104255945 104255945 single base substitution G A intron_variant MELA-AU 14 104256121 104256121 single base substitution G A intron_variant MELA-AU 14 104257035 104257035 single base substitution G A intron_variant MELA-AU 14 104257592 104257592 single base substitution G A intron_variant MELA-AU 14 104258052 104258052 single base substitution C T intron_variant MELA-AU 14 104258090 104258090 single base substitution G T intron_variant MELA-AU 14 104258425 104258425 single base substitution G A intron_variant MELA-AU 14 104259303 104259303 single base substitution G A intron_variant MELA-AU 14 104259548 104259548 single base substitution G A intron_variant MELA-AU 14 104259599 104259599 single base substitution C T intron_variant MELA-AU 14 104259755 104259755 single base substitution C G intron_variant MELA-AU 14 104259810 104259810 single base substitution C G intron_variant MELA-AU 14 104259882 104259882 single base substitution C T intron_variant MELA-AU 14 104260074 104260074 single base substitution G A intron_variant MELA-AU 14 104260236 104260236 single base substitution G A intron_variant MELA-AU 14 104260271 104260271 single base substitution G A intron_variant MELA-AU 14 104260320 104260320 single base substitution G A intron_variant MELA-AU 14 104260340 104260340 single base substitution G A intron_variant MELA-AU 14 104260799 104260799 single base substitution G A intron_variant MELA-AU 14 104261444 104261444 single base substitution T G intron_variant MELA-AU 14 104262495 104262495 single base substitution C T intron_variant MELA-AU 14 104263820 104263820 single base substitution C T exon_variant MELA-AU 14 104263820 104263820 single base substitution C T intron_variant MELA-AU 14 104263820 104263820 single base substitution C T synonymous_variant Q12Q 36G>A MELA-AU 14 104263820 104263820 single base substitution C T synonymous_variant Q15Q 45G>A MELA-AU 14 104264008 104264008 single base substitution T G intron_variant MELA-AU 14 104264039 104264039 single base substitution G A intron_variant MELA-AU 14 104264537 104264537 single base substitution G A intron_variant MELA-AU 14 104264711 104264711 single base substitution G A intron_variant MELA-AU 14 104265386 104265386 single base substitution G T intron_variant MELA-AU 14 104265536 104265536 single base substitution G A intron_variant MELA-AU 14 104266024 104266024 single base substitution G A intron_variant MELA-AU 14 104267457 104267457 single base substitution G A intron_variant MELA-AU 14 104267675 104267675 single base substitution G A intron_variant MELA-AU 14 104268435 104268435 single base substitution A G intron_variant MELA-AU 14 104268699 104268706 deletion of <=200bp TTTATAAA - intron_variant MELA-AU 14 104269836 104269836 single base substitution C T intron_variant MELA-AU 14 104269906 104269906 single base substitution G A intron_variant MELA-AU 14 104269939 104269939 single base substitution C T intron_variant MELA-AU 14 104270098 104270099 multiple base substitution (>=2bp and <=200bp) GA CC intron_variant MELA-AU 14 104271735 104271735 single base substitution C T intron_variant MELA-AU 14 104271921 104271921 single base substitution G A intron_variant MELA-AU 14 104272464 104272464 single base substitution G A intron_variant MELA-AU 14 104272727 104272727 single base substitution A T intron_variant MELA-AU 14 104273729 104273729 single base substitution C T intron_variant MELA-AU 14 104273895 104273895 single base substitution G A intron_variant MELA-AU 14 104274053 104274053 single base substitution G A intron_variant MELA-AU 14 104274053 104274053 single base substitution G C intron_variant MELA-AU 14 104274310 104274310 single base substitution G A intron_variant MELA-AU 14 104275423 104275423 single base substitution G A intron_variant MELA-AU 14 104276622 104276622 single base substitution G A intron_variant MELA-AU 14 104276775 104276775 single base substitution T A intron_variant MELA-AU 14 104278216 104278216 single base substitution A G intron_variant MELA-AU 14 104279595 104279595 single base substitution G A intron_variant MELA-AU 14 104279705 104279705 single base substitution G A intron_variant MELA-AU 14 104279809 104279810 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 104280244 104280244 single base substitution G A intron_variant MELA-AU 14 104280245 104280245 single base substitution G A intron_variant MELA-AU 14 104280458 104280458 single base substitution G A intron_variant MELA-AU 14 104280679 104280680 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 104281065 104281065 single base substitution G A intron_variant MELA-AU 14 104281098 104281098 single base substitution C T intron_variant MELA-AU 14 104281265 104281265 single base substitution G A intron_variant MELA-AU 14 104281620 104281620 single base substitution G A intron_variant MELA-AU 14 104282086 104282086 single base substitution C T intron_variant MELA-AU 14 104282255 104282255 single base substitution T A intron_variant MELA-AU 14 104282265 104282265 single base substitution G A intron_variant MELA-AU 14 104282340 104282340 single base substitution G A intron_variant MELA-AU 14 104282396 104282396 single base substitution G A intron_variant MELA-AU 14 104282815 104282815 single base substitution G A intron_variant MELA-AU 14 104282857 104282857 single base substitution C T intron_variant MELA-AU 14 104283469 104283469 single base substitution C T intron_variant MELA-AU 14 104285152 104285152 single base substitution G A intron_variant MELA-AU 14 104285153 104285153 single base substitution G A intron_variant MELA-AU 14 104285395 104285395 single base substitution G A intron_variant MELA-AU 14 104286201 104286201 single base substitution G A intron_variant MELA-AU 14 104286560 104286560 single base substitution C T intron_variant MELA-AU 14 104286940 104286940 single base substitution C T intron_variant MELA-AU 14 104287245 104287245 single base substitution G A intron_variant MELA-AU 14 104288014 104288014 single base substitution G A intron_variant MELA-AU 14 104288217 104288217 single base substitution G A intron_variant MELA-AU 14 104289144 104289144 single base substitution C T intron_variant MELA-AU 14 104289804 104289804 single base substitution C A intron_variant MELA-AU 14 104290118 104290118 single base substitution C T intron_variant MELA-AU 14 104290690 104290690 deletion of <=200bp T - intron_variant MELA-AU 14 104291232 104291232 single base substitution A C intron_variant MELA-AU 14 104291857 104291857 single base substitution G A intron_variant MELA-AU 14 104291932 104291932 single base substitution T G intron_variant MELA-AU 14 104292109 104292109 single base substitution C T intron_variant MELA-AU 14 104292188 104292188 single base substitution T C intron_variant MELA-AU 14 104292325 104292325 single base substitution G A intron_variant MELA-AU 14 104292773 104292773 single base substitution G A intron_variant MELA-AU 14 104293165 104293165 single base substitution G A intron_variant MELA-AU 14 104293773 104293773 single base substitution G A intron_variant MELA-AU 14 104293824 104293824 single base substitution C T intron_variant MELA-AU 14 104294770 104294770 single base substitution A G intron_variant MELA-AU 14 104296436 104296436 single base substitution T C intron_variant MELA-AU 14 104296526 104296526 single base substitution G A intron_variant MELA-AU 14 104297249 104297249 single base substitution G A intron_variant MELA-AU 14 104298561 104298561 single base substitution G A intron_variant MELA-AU 14 104298713 104298713 single base substitution C T intron_variant MELA-AU 14 104298986 104298986 single base substitution C T intron_variant MELA-AU 14 104299089 104299090 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 104299302 104299302 single base substitution G A intron_variant MELA-AU 14 104299477 104299477 single base substitution C T intron_variant MELA-AU 14 104300764 104300764 single base substitution A C intron_variant MELA-AU 14 104300987 104300987 single base substitution G A intron_variant MELA-AU 14 104301200 104301200 single base substitution G A intron_variant MELA-AU 14 104301782 104301782 single base substitution T A intron_variant MELA-AU 14 104301970 104301970 single base substitution G A intron_variant MELA-AU 14 104302009 104302009 single base substitution G A intron_variant MELA-AU 14 104302597 104302597 single base substitution G A intron_variant MELA-AU 14 104302824 104302824 single base substitution T C intron_variant MELA-AU 14 104303015 104303015 single base substitution G A intron_variant MELA-AU 14 104303033 104303033 single base substitution G A intron_variant MELA-AU 14 104303337 104303337 single base substitution G A intron_variant MELA-AU 14 104304659 104304659 single base substitution C T intron_variant MELA-AU 14 104305026 104305026 single base substitution G A intron_variant MELA-AU 14 104305103 104305103 single base substitution C T intron_variant MELA-AU 14 104305757 104305757 single base substitution G A intron_variant MELA-AU 14 104306282 104306282 single base substitution G A intron_variant MELA-AU 14 104306311 104306311 single base substitution A T intron_variant MELA-AU 14 104306762 104306762 single base substitution G A intron_variant MELA-AU 14 104306762 104306762 single base substitution G A upstream_gene_variant MELA-AU 14 104307674 104307674 single base substitution C T intron_variant MELA-AU 14 104307674 104307674 single base substitution C T upstream_gene_variant MELA-AU 14 104307698 104307698 single base substitution G A intron_variant MELA-AU 14 104307698 104307698 single base substitution G A upstream_gene_variant MELA-AU 14 104307892 104307892 single base substitution A C intron_variant MELA-AU 14 104307892 104307892 single base substitution A C upstream_gene_variant MELA-AU 14 104308968 104308968 single base substitution A G intron_variant MELA-AU 14 104308968 104308968 single base substitution A G upstream_gene_variant MELA-AU 14 104309606 104309606 single base substitution G A intron_variant MELA-AU 14 104309606 104309606 single base substitution G A upstream_gene_variant MELA-AU 14 104309884 104309884 single base substitution G A intron_variant MELA-AU 14 104309884 104309884 single base substitution G A upstream_gene_variant MELA-AU 14 104309933 104309933 single base substitution C T intron_variant MELA-AU 14 104309933 104309933 single base substitution C T upstream_gene_variant MELA-AU 14 104310007 104310007 single base substitution G A intron_variant MELA-AU 14 104310007 104310007 single base substitution G A upstream_gene_variant MELA-AU 14 104310496 104310496 single base substitution C T intron_variant MELA-AU 14 104310496 104310496 single base substitution C T upstream_gene_variant MELA-AU 14 104310787 104310787 single base substitution C T intron_variant MELA-AU 14 104310787 104310787 single base substitution C T upstream_gene_variant MELA-AU 14 104311800 104311800 single base substitution A G intron_variant MELA-AU 14 104311962 104311962 single base substitution G A intron_variant MELA-AU 14 104314153 104314153 single base substitution C T upstream_gene_variant MELA-AU 14 104315636 104315636 single base substitution C T upstream_gene_variant MELA-AU 14 104315743 104315743 single base substitution G A upstream_gene_variant MELA-AU 14 104315950 104315950 single base substitution T G upstream_gene_variant MELA-AU 14 104316256 104316256 single base substitution G A upstream_gene_variant MELA-AU 14 104316845 104316845 single base substitution C T upstream_gene_variant MELA-AU 14 104317129 104317129 single base substitution G A upstream_gene_variant MELA-AU 14 104317611 104317611 single base substitution G A upstream_gene_variant MELA-AU 14 104318087 104318087 single base substitution C A upstream_gene_variant MELA-AU 14 104318408 104318408 single base substitution C T upstream_gene_variant MELA-AU 14 104318472 104318472 single base substitution G C upstream_gene_variant MELA-AU 14 104318491 104318491 single base substitution C T upstream_gene_variant MELA-AU 14 104318509 104318509 single base substitution C T upstream_gene_variant ORCA-IN 14 104206467 104206467 single base substitution G T 3_prime_UTR_variant ORCA-IN 14 104206467 104206467 single base substitution G T downstream_gene_variant ORCA-IN 14 104206467 104206467 single base substitution G T exon_variant ORCA-IN 14 104206467 104206467 single base substitution G T intron_variant ORCA-IN 14 104206467 104206467 single base substitution G T missense_variant N181K 543C>A ORCA-IN 14 104206467 104206467 single base substitution G T missense_variant N762K 2286C>A ORCA-IN 14 104206467 104206467 single base substitution G T upstream_gene_variant ORCA-IN 14 104209265 104209265 single base substitution C G downstream_gene_variant ORCA-IN 14 104209265 104209265 single base substitution C G intron_variant ORCA-IN 14 104209265 104209265 single base substitution C G upstream_gene_variant ORCA-IN 14 104212863 104212863 single base substitution G T 3_prime_UTR_variant ORCA-IN 14 104212863 104212863 single base substitution G T downstream_gene_variant ORCA-IN 14 104212863 104212863 single base substitution G T exon_variant ORCA-IN 14 104212863 104212863 single base substitution G T intron_variant ORCA-IN 14 104212863 104212863 single base substitution G T missense_variant P333T 997C>A ORCA-IN 14 104212863 104212863 single base substitution G T upstream_gene_variant ORCA-IN 14 104216153 104216153 single base substitution C T 3_prime_UTR_variant ORCA-IN 14 104216153 104216153 single base substitution C T downstream_gene_variant ORCA-IN 14 104216153 104216153 single base substitution C T intron_variant ORCA-IN 14 104216153 104216153 single base substitution C T missense_variant R316H 947G>A ORCA-IN 14 104216153 104216153 single base substitution C T upstream_gene_variant ORCA-IN 14 104225712 104225712 single base substitution T C intron_variant ORCA-IN 14 104233311 104233311 single base substitution A C intron_variant ORCA-IN 14 104256410 104256410 single base substitution C A intron_variant ORCA-IN 14 104257890 104257890 single base substitution C T intron_variant ORCA-IN 14 104268987 104268987 single base substitution C A intron_variant ORCA-IN 14 104269316 104269316 single base substitution A G intron_variant ORCA-IN 14 104275089 104275089 single base substitution G T intron_variant ORCA-IN 14 104289620 104289620 single base substitution G A intron_variant OV-AU 14 104198036 104198036 single base substitution G T downstream_gene_variant OV-AU 14 104204216 104204216 single base substitution G A downstream_gene_variant OV-AU 14 104204216 104204216 single base substitution G A intron_variant OV-AU 14 104204216 104204216 single base substitution G A upstream_gene_variant OV-AU 14 104208360 104208360 single base substitution T G 3_prime_UTR_variant OV-AU 14 104208360 104208360 single base substitution T G 5_prime_UTR_variant OV-AU 14 104208360 104208360 single base substitution T G downstream_gene_variant OV-AU 14 104208360 104208360 single base substitution T G exon_variant OV-AU 14 104208360 104208360 single base substitution T G intron_variant OV-AU 14 104208360 104208360 single base substitution T G missense_variant Y530S 1589A>C OV-AU 14 104208360 104208360 single base substitution T G upstream_gene_variant OV-AU 14 104212600 104212600 single base substitution C T downstream_gene_variant OV-AU 14 104212600 104212600 single base substitution C T intron_variant OV-AU 14 104212600 104212600 single base substitution C T upstream_gene_variant OV-AU 14 104223587 104223587 single base substitution C A downstream_gene_variant OV-AU 14 104223587 104223587 single base substitution C A intron_variant OV-AU 14 104233174 104233174 single base substitution C T intron_variant OV-AU 14 104243749 104243749 single base substitution T C downstream_gene_variant OV-AU 14 104243749 104243749 single base substitution T C intron_variant OV-AU 14 104254115 104254115 single base substitution C T intron_variant OV-AU 14 104254118 104254118 single base substitution A G intron_variant OV-AU 14 104263944 104263944 single base substitution C T intron_variant OV-AU 14 104266400 104266400 single base substitution A T intron_variant OV-AU 14 104267194 104267194 single base substitution C T intron_variant OV-AU 14 104269996 104269996 single base substitution A T intron_variant OV-AU 14 104276646 104276646 single base substitution C A intron_variant OV-AU 14 104281974 104281974 single base substitution C A intron_variant OV-AU 14 104290540 104290540 single base substitution G A intron_variant OV-AU 14 104294262 104294262 single base substitution A G intron_variant OV-AU 14 104296065 104296065 single base substitution G C intron_variant OV-AU 14 104306612 104306612 single base substitution C G intron_variant OV-AU 14 104306612 104306612 single base substitution C G upstream_gene_variant OV-AU 14 104310068 104310068 single base substitution G C intron_variant OV-AU 14 104310068 104310068 single base substitution G C upstream_gene_variant OV-AU 14 104311531 104311531 single base substitution C G intron_variant PACA-AU 14 104196261 104196261 single base substitution C T downstream_gene_variant PACA-AU 14 104196262 104196262 single base substitution G A downstream_gene_variant PACA-AU 14 104201513 104201513 single base substitution G A 3_prime_UTR_variant PACA-AU 14 104201513 104201513 single base substitution G A downstream_gene_variant PACA-AU 14 104201513 104201513 single base substitution G A exon_variant PACA-AU 14 104201513 104201513 single base substitution G A intron_variant PACA-AU 14 104201513 104201513 single base substitution G A missense_variant P1084L 3251C>T PACA-AU 14 104205301 104205301 single base substitution G A 3_prime_UTR_variant PACA-AU 14 104205301 104205301 single base substitution G A downstream_gene_variant PACA-AU 14 104205301 104205301 single base substitution G A exon_variant PACA-AU 14 104205301 104205301 single base substitution G A synonymous_variant V303V 909C>T PACA-AU 14 104205301 104205301 single base substitution G A synonymous_variant V884V 2652C>T PACA-AU 14 104205301 104205301 single base substitution G A upstream_gene_variant PACA-AU 14 104208045 104208045 single base substitution C T downstream_gene_variant PACA-AU 14 104208045 104208045 single base substitution C T intron_variant PACA-AU 14 104208045 104208045 single base substitution C T upstream_gene_variant PACA-AU 14 104222431 104222431 single base substitution T C downstream_gene_variant PACA-AU 14 104222431 104222431 single base substitution T C intron_variant PACA-AU 14 104229403 104229403 single base substitution G A intron_variant PACA-AU 14 104233856 104233856 single base substitution G A intron_variant PACA-AU 14 104235435 104235435 insertion of <=200bp - T intron_variant PACA-AU 14 104243714 104243714 single base substitution C T downstream_gene_variant PACA-AU 14 104243714 104243714 single base substitution C T intron_variant PACA-AU 14 104244391 104244391 single base substitution C T downstream_gene_variant PACA-AU 14 104244391 104244391 single base substitution C T intron_variant PACA-AU 14 104245825 104245825 single base substitution G A intron_variant PACA-AU 14 104245932 104245932 single base substitution C T intron_variant PACA-AU 14 104246195 104246208 deletion of <=200bp AGGCATTTGCGGCC - intron_variant PACA-AU 14 104250570 104250570 single base substitution C T intron_variant PACA-AU 14 104255314 104255314 single base substitution G A intron_variant PACA-AU 14 104261132 104261132 single base substitution T C intron_variant PACA-AU 14 104262844 104262844 single base substitution G A intron_variant PACA-AU 14 104267286 104267286 single base substitution C T intron_variant PACA-AU 14 104271925 104271936 deletion of <=200bp GAAGGAAGGAAG - intron_variant PACA-AU 14 104281246 104281246 single base substitution C T intron_variant PACA-AU 14 104282187 104282187 single base substitution G T intron_variant PACA-AU 14 104286471 104286471 single base substitution C A intron_variant PACA-AU 14 104304570 104304570 single base substitution C G intron_variant PACA-AU 14 104307633 104307633 single base substitution A T intron_variant PACA-AU 14 104307633 104307633 single base substitution A T upstream_gene_variant PACA-AU 14 104312764 104312764 single base substitution A T intron_variant PACA-AU 14 104313833 104313833 insertion of <=200bp - T 5_prime_UTR_variant PACA-AU 14 104313833 104313833 insertion of <=200bp - T exon_variant PACA-AU 14 104313833 104313833 insertion of <=200bp - T intron_variant PACA-AU 14 104313833 104313833 insertion of <=200bp - T upstream_gene_variant PACA-AU 14 104316249 104316249 single base substitution C T upstream_gene_variant PACA-AU 14 104317672 104317672 single base substitution C T upstream_gene_variant PACA-CA 14 104198936 104198936 insertion of <=200bp - A downstream_gene_variant PACA-CA 14 104202193 104202193 single base substitution G A downstream_gene_variant PACA-CA 14 104202193 104202193 single base substitution G A intron_variant PACA-CA 14 104202746 104202746 single base substitution G A downstream_gene_variant PACA-CA 14 104202746 104202746 single base substitution G A exon_variant PACA-CA 14 104202746 104202746 single base substitution G A intron_variant PACA-CA 14 104204785 104204785 single base substitution A G downstream_gene_variant PACA-CA 14 104204785 104204785 single base substitution A G exon_variant PACA-CA 14 104204785 104204785 single base substitution A G intron_variant PACA-CA 14 104204785 104204785 single base substitution A G upstream_gene_variant PACA-CA 14 104205095 104205095 single base substitution C T 3_prime_UTR_variant PACA-CA 14 104205095 104205095 single base substitution C T downstream_gene_variant PACA-CA 14 104205095 104205095 single base substitution C T exon_variant PACA-CA 14 104205095 104205095 single base substitution C T missense_variant V348I 1042G>A PACA-CA 14 104205095 104205095 single base substitution C T missense_variant V929I 2785G>A PACA-CA 14 104205095 104205095 single base substitution C T upstream_gene_variant PACA-CA 14 104210432 104210432 single base substitution C A downstream_gene_variant PACA-CA 14 104210432 104210432 single base substitution C A intron_variant PACA-CA 14 104210432 104210432 single base substitution C A upstream_gene_variant PACA-CA 14 104218740 104218740 deletion of <=200bp T - downstream_gene_variant PACA-CA 14 104218740 104218740 deletion of <=200bp T - intron_variant PACA-CA 14 104224522 104224522 single base substitution C T intron_variant PACA-CA 14 104226611 104226611 single base substitution T C intron_variant PACA-CA 14 104227457 104227457 deletion of <=200bp A - intron_variant PACA-CA 14 104232474 104232474 single base substitution T A intron_variant PACA-CA 14 104248279 104248279 single base substitution G A intron_variant PACA-CA 14 104252473 104252473 single base substitution C T intron_variant PACA-CA 14 104255152 104255152 single base substitution A G intron_variant PACA-CA 14 104255178 104255178 single base substitution C A intron_variant PACA-CA 14 104256144 104256144 single base substitution C T intron_variant PACA-CA 14 104256802 104256802 single base substitution T C intron_variant PACA-CA 14 104266390 104266390 insertion of <=200bp - AAAT intron_variant PACA-CA 14 104269537 104269537 single base substitution C T intron_variant PACA-CA 14 104270004 104270004 single base substitution T A intron_variant PACA-CA 14 104272055 104272055 single base substitution A G intron_variant PACA-CA 14 104273349 104273349 single base substitution C G intron_variant PACA-CA 14 104274019 104274019 single base substitution G A intron_variant PACA-CA 14 104274359 104274359 single base substitution T C intron_variant PACA-CA 14 104282798 104282798 single base substitution C T intron_variant PACA-CA 14 104283929 104283929 single base substitution T C intron_variant PACA-CA 14 104286379 104286379 single base substitution T C intron_variant PACA-CA 14 104288612 104288612 insertion of <=200bp - AGT intron_variant PACA-CA 14 104294184 104294184 single base substitution A G intron_variant PACA-CA 14 104298795 104298795 single base substitution A G intron_variant PACA-CA 14 104300509 104300509 single base substitution C G intron_variant PACA-CA 14 104301825 104301825 single base substitution T C intron_variant PACA-CA 14 104302989 104302989 single base substitution C G intron_variant PACA-CA 14 104307731 104307731 single base substitution C T intron_variant PACA-CA 14 104307731 104307731 single base substitution C T upstream_gene_variant PACA-CA 14 104308100 104308100 single base substitution G T intron_variant PACA-CA 14 104308100 104308100 single base substitution G T upstream_gene_variant PACA-CA 14 104308600 104308600 single base substitution A G intron_variant PACA-CA 14 104308600 104308600 single base substitution A G upstream_gene_variant PACA-CA 14 104309371 104309371 single base substitution C G intron_variant PACA-CA 14 104309371 104309371 single base substitution C G upstream_gene_variant PACA-CA 14 104310413 104310413 single base substitution G A intron_variant PACA-CA 14 104310413 104310413 single base substitution G A upstream_gene_variant PACA-CA 14 104316644 104316644 single base substitution C T upstream_gene_variant PAEN-AU 14 104221058 104221058 single base substitution T C downstream_gene_variant PAEN-AU 14 104221058 104221058 single base substitution T C intron_variant PAEN-AU 14 104222116 104222116 single base substitution T A downstream_gene_variant PAEN-AU 14 104222116 104222116 single base substitution T A intron_variant PAEN-AU 14 104228197 104228197 deletion of <=200bp A - intron_variant PAEN-AU 14 104247787 104247787 single base substitution T A intron_variant PAEN-AU 14 104316640 104316640 single base substitution G A upstream_gene_variant PAEN-IT 14 104212725 104212725 single base substitution C T 3_prime_UTR_variant PAEN-IT 14 104212725 104212725 single base substitution C T 5_prime_UTR_variant PAEN-IT 14 104212725 104212725 single base substitution C T downstream_gene_variant PAEN-IT 14 104212725 104212725 single base substitution C T exon_variant PAEN-IT 14 104212725 104212725 single base substitution C T intron_variant PAEN-IT 14 104212725 104212725 single base substitution C T missense_variant G379R 1135G>A PAEN-IT 14 104212725 104212725 single base substitution C T upstream_gene_variant PAEN-IT 14 104213368 104213368 single base substitution C T exon_variant PAEN-IT 14 104213368 104213368 single base substitution C T intron_variant PAEN-IT 14 104213368 104213368 single base substitution C T upstream_gene_variant PAEN-IT 14 104226982 104226982 single base substitution C A intron_variant PAEN-IT 14 104268539 104268539 single base substitution G T intron_variant PAEN-IT 14 104290807 104290807 single base substitution C T intron_variant PBCA-DE 14 104196011 104196011 single base substitution G C downstream_gene_variant PBCA-DE 14 104200497 104200497 insertion of <=200bp - GGCAGGGAGATC 3_prime_UTR_variant PBCA-DE 14 104200497 104200497 insertion of <=200bp - GGCAGGGAGATC downstream_gene_variant PBCA-DE 14 104200497 104200497 insertion of <=200bp - GGCAGGGAGATC exon_variant PBCA-DE 14 104200497 104200497 insertion of <=200bp - GGCAGGGAGATC intron_variant PBCA-DE 14 104207203 104207203 single base substitution A C downstream_gene_variant PBCA-DE 14 104207203 104207203 single base substitution A C intron_variant PBCA-DE 14 104207203 104207203 single base substitution A C upstream_gene_variant PBCA-DE 14 104221431 104221431 single base substitution A C downstream_gene_variant PBCA-DE 14 104221431 104221431 single base substitution A C intron_variant PBCA-DE 14 104221875 104221878 deletion of <=200bp TAAG - downstream_gene_variant PBCA-DE 14 104221875 104221878 deletion of <=200bp TAAG - intron_variant PBCA-DE 14 104224046 104224046 single base substitution C T 3_prime_UTR_variant PBCA-DE 14 104224046 104224046 single base substitution C T exon_variant PBCA-DE 14 104224046 104224046 single base substitution C T intron_variant PBCA-DE 14 104224046 104224046 single base substitution C T missense_variant D130N 388G>A PBCA-DE 14 104224046 104224046 single base substitution C T missense_variant D133N 397G>A PBCA-DE 14 104225665 104225665 single base substitution G T intron_variant PBCA-DE 14 104239072 104239072 single base substitution C T intron_variant PBCA-DE 14 104245278 104245278 single base substitution T C intron_variant PBCA-DE 14 104247479 104247479 single base substitution C A intron_variant PBCA-DE 14 104249147 104249147 insertion of <=200bp - T intron_variant PBCA-DE 14 104253649 104253649 insertion of <=200bp - A intron_variant PBCA-DE 14 104273210 104273210 single base substitution C T intron_variant PBCA-DE 14 104273999 104273999 insertion of <=200bp - TTT intron_variant PBCA-DE 14 104282866 104282866 insertion of <=200bp - AT intron_variant PBCA-DE 14 104284729 104284729 single base substitution A T intron_variant PBCA-DE 14 104289153 104289153 insertion of <=200bp - A intron_variant PBCA-DE 14 104289555 104289555 deletion of <=200bp G - intron_variant PBCA-DE 14 104294550 104294550 insertion of <=200bp - A intron_variant PBCA-DE 14 104295000 104295000 single base substitution C T intron_variant PBCA-DE 14 104310984 104310984 single base substitution C T intron_variant PBCA-DE 14 104310984 104310984 single base substitution C T upstream_gene_variant PBCA-DE 14 104318799 104318799 single base substitution G A upstream_gene_variant PRAD-CA 14 104196607 104196607 single base substitution G A downstream_gene_variant PRAD-CA 14 104215970 104215970 single base substitution C T downstream_gene_variant PRAD-CA 14 104215970 104215970 single base substitution C T intron_variant PRAD-CA 14 104215970 104215970 single base substitution C T upstream_gene_variant PRAD-CA 14 104242523 104242523 single base substitution G A downstream_gene_variant PRAD-CA 14 104242523 104242523 single base substitution G A intron_variant PRAD-CA 14 104250843 104250843 single base substitution T C intron_variant PRAD-CA 14 104251567 104251567 single base substitution T G intron_variant PRAD-CA 14 104266765 104266765 single base substitution G A intron_variant PRAD-CA 14 104301398 104301398 single base substitution A C intron_variant PRAD-CA 14 104314790 104314790 single base substitution G T upstream_gene_variant PRAD-UK 14 104195487 104195487 single base substitution T C downstream_gene_variant PRAD-UK 14 104203072 104203072 single base substitution G T downstream_gene_variant PRAD-UK 14 104203072 104203072 single base substitution G T exon_variant PRAD-UK 14 104203072 104203072 single base substitution G T intron_variant PRAD-UK 14 104210659 104210659 single base substitution A C downstream_gene_variant PRAD-UK 14 104210659 104210659 single base substitution A C intron_variant PRAD-UK 14 104210659 104210659 single base substitution A C upstream_gene_variant PRAD-UK 14 104216715 104216715 single base substitution T C downstream_gene_variant PRAD-UK 14 104216715 104216715 single base substitution T C intron_variant PRAD-UK 14 104216715 104216715 single base substitution T C upstream_gene_variant PRAD-UK 14 104231388 104231406 multiple base substitution (>=2bp and <=200bp) CTCGTGATCCGCCCGCCTC CGCG intron_variant PRAD-UK 14 104256008 104256008 single base substitution G A intron_variant PRAD-UK 14 104258367 104258367 single base substitution T C intron_variant PRAD-UK 14 104258910 104258910 single base substitution C T intron_variant PRAD-UK 14 104277872 104277872 single base substitution A G intron_variant PRAD-UK 14 104290810 104290810 single base substitution A T intron_variant PRAD-UK 14 104293177 104293177 single base substitution C G intron_variant PRAD-UK 14 104293486 104293489 multiple base substitution (>=2bp and <=200bp) CCCA CT intron_variant PRAD-UK 14 104294805 104294805 single base substitution C T intron_variant PRAD-UK 14 104313382 104313382 single base substitution C G 5_prime_UTR_variant PRAD-UK 14 104313382 104313382 single base substitution C G intron_variant PRAD-UK 14 104313382 104313382 single base substitution C G upstream_gene_variant PRAD-US 14 104205266 104205268 deletion of <=200bp GAC - 3_prime_UTR_variant PRAD-US 14 104205266 104205268 deletion of <=200bp GAC - disruptive_inframe_deletion AS314A PRAD-US 14 104205266 104205268 deletion of <=200bp GAC - disruptive_inframe_deletion AS895A PRAD-US 14 104205266 104205268 deletion of <=200bp GAC - downstream_gene_variant PRAD-US 14 104205266 104205268 deletion of <=200bp GAC - exon_variant PRAD-US 14 104205266 104205268 deletion of <=200bp GAC - upstream_gene_variant READ-US 14 104206854 104206854 single base substitution C T 3_prime_UTR_variant READ-US 14 104206854 104206854 single base substitution C T downstream_gene_variant READ-US 14 104206854 104206854 single base substitution C T exon_variant READ-US 14 104206854 104206854 single base substitution C T intron_variant READ-US 14 104206854 104206854 single base substitution C T synonymous_variant T52T 156G>A READ-US 14 104206854 104206854 single base substitution C T synonymous_variant T633T 1899G>A READ-US 14 104206854 104206854 single base substitution C T upstream_gene_variant READ-US 14 104208357 104208357 single base substitution G A 3_prime_UTR_variant READ-US 14 104208357 104208357 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant READ-US 14 104208357 104208357 single base substitution G A downstream_gene_variant READ-US 14 104208357 104208357 single base substitution G A exon_variant READ-US 14 104208357 104208357 single base substitution G A intron_variant READ-US 14 104208357 104208357 single base substitution G A missense_variant P531L 1592C>T READ-US 14 104208357 104208357 single base substitution G A upstream_gene_variant READ-US 14 104212794 104212794 single base substitution C T 3_prime_UTR_variant READ-US 14 104212794 104212794 single base substitution C T 5_prime_UTR_variant READ-US 14 104212794 104212794 single base substitution C T downstream_gene_variant READ-US 14 104212794 104212794 single base substitution C T exon_variant READ-US 14 104212794 104212794 single base substitution C T intron_variant READ-US 14 104212794 104212794 single base substitution C T missense_variant G356R 1066G>A READ-US 14 104212794 104212794 single base substitution C T upstream_gene_variant READ-US 14 104220458 104220458 single base substitution G A 3_prime_UTR_variant READ-US 14 104220458 104220458 single base substitution G A downstream_gene_variant READ-US 14 104220458 104220458 single base substitution G A intron_variant READ-US 14 104220458 104220458 single base substitution G A missense_variant R194C 580C>T READ-US 14 104245125 104245125 single base substitution C A exon_variant READ-US 14 104245125 104245125 single base substitution C A intron_variant READ-US 14 104245125 104245125 single base substitution C A missense_variant R101I 302G>T READ-US 14 104245125 104245125 single base substitution C A missense_variant R104I 311G>T READ-US 14 104245125 104245125 single base substitution C A missense_variant R133I 398G>T RECA-EU 14 104202232 104202232 single base substitution A G downstream_gene_variant RECA-EU 14 104202232 104202232 single base substitution A G intron_variant RECA-EU 14 104210738 104210738 single base substitution A G downstream_gene_variant RECA-EU 14 104210738 104210738 single base substitution A G intron_variant RECA-EU 14 104210738 104210738 single base substitution A G upstream_gene_variant RECA-EU 14 104215401 104215401 single base substitution A T intron_variant RECA-EU 14 104215401 104215401 single base substitution A T upstream_gene_variant RECA-EU 14 104224053 104224053 single base substitution C T 3_prime_UTR_variant RECA-EU 14 104224053 104224053 single base substitution C T exon_variant RECA-EU 14 104224053 104224053 single base substitution C T intron_variant RECA-EU 14 104224053 104224053 single base substitution C T synonymous_variant E127E 381G>A RECA-EU 14 104224053 104224053 single base substitution C T synonymous_variant E130E 390G>A RECA-EU 14 104233972 104233972 single base substitution G A intron_variant RECA-EU 14 104256754 104256754 single base substitution G A intron_variant RECA-EU 14 104261549 104261549 single base substitution A T intron_variant RECA-EU 14 104275940 104275940 single base substitution T A intron_variant RECA-EU 14 104285353 104285353 single base substitution C T intron_variant RECA-EU 14 104292045 104292045 single base substitution T G intron_variant RECA-EU 14 104295014 104295014 single base substitution A G intron_variant RECA-EU 14 104308556 104308556 single base substitution A G intron_variant RECA-EU 14 104308556 104308556 single base substitution A G upstream_gene_variant SKCA-BR 14 104201566 104201566 single base substitution G A downstream_gene_variant SKCA-BR 14 104201566 104201566 single base substitution G A intron_variant SKCA-BR 14 104202210 104202210 single base substitution C T downstream_gene_variant SKCA-BR 14 104202210 104202210 single base substitution C T intron_variant SKCA-BR 14 104202211 104202211 single base substitution C A downstream_gene_variant SKCA-BR 14 104202211 104202211 single base substitution C A intron_variant SKCA-BR 14 104207194 104207194 single base substitution A G downstream_gene_variant SKCA-BR 14 104207194 104207194 single base substitution A G intron_variant SKCA-BR 14 104207194 104207194 single base substitution A G upstream_gene_variant SKCA-BR 14 104207209 104207209 single base substitution C T downstream_gene_variant SKCA-BR 14 104207209 104207209 single base substitution C T intron_variant SKCA-BR 14 104207209 104207209 single base substitution C T upstream_gene_variant SKCA-BR 14 104207213 104207213 single base substitution T C downstream_gene_variant SKCA-BR 14 104207213 104207213 single base substitution T C intron_variant SKCA-BR 14 104207213 104207213 single base substitution T C upstream_gene_variant SKCA-BR 14 104212681 104212681 single base substitution C T downstream_gene_variant SKCA-BR 14 104212681 104212681 single base substitution C T intron_variant SKCA-BR 14 104212681 104212681 single base substitution C T upstream_gene_variant SKCA-BR 14 104212902 104212902 single base substitution G A downstream_gene_variant SKCA-BR 14 104212902 104212902 single base substitution G A intron_variant SKCA-BR 14 104212902 104212902 single base substitution G A upstream_gene_variant SKCA-BR 14 104214802 104214802 single base substitution C T intron_variant SKCA-BR 14 104214802 104214802 single base substitution C T upstream_gene_variant SKCA-BR 14 104220958 104220958 single base substitution G A downstream_gene_variant SKCA-BR 14 104220958 104220958 single base substitution G A intron_variant SKCA-BR 14 104221105 104221105 single base substitution G A downstream_gene_variant SKCA-BR 14 104221105 104221105 single base substitution G A intron_variant SKCA-BR 14 104223262 104223263 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 14 104223262 104223263 deletion of <=200bp AT - intron_variant SKCA-BR 14 104224720 104224720 single base substitution G A intron_variant SKCA-BR 14 104226732 104226732 single base substitution A C intron_variant SKCA-BR 14 104227565 104227565 single base substitution T G intron_variant SKCA-BR 14 104228546 104228546 single base substitution A G intron_variant SKCA-BR 14 104232312 104232312 single base substitution G A intron_variant SKCA-BR 14 104232323 104232323 insertion of <=200bp - TTTA intron_variant SKCA-BR 14 104232323 104232323 insertion of <=200bp - TTTATTA intron_variant SKCA-BR 14 104234455 104234455 insertion of <=200bp - CT intron_variant SKCA-BR 14 104234923 104234923 single base substitution T C intron_variant SKCA-BR 14 104241141 104241141 single base substitution C T downstream_gene_variant SKCA-BR 14 104241141 104241141 single base substitution C T intron_variant SKCA-BR 14 104242523 104242523 insertion of <=200bp - GAGGAAGGAAGGA downstream_gene_variant SKCA-BR 14 104242523 104242523 insertion of <=200bp - GAGGAAGGAAGGA intron_variant SKCA-BR 14 104243463 104243463 single base substitution G A downstream_gene_variant SKCA-BR 14 104243463 104243463 single base substitution G A intron_variant SKCA-BR 14 104247198 104247198 single base substitution G A intron_variant SKCA-BR 14 104251498 104251498 single base substitution G A intron_variant SKCA-BR 14 104254856 104254856 single base substitution A T intron_variant SKCA-BR 14 104255083 104255083 single base substitution G A intron_variant SKCA-BR 14 104257139 104257139 single base substitution G A intron_variant SKCA-BR 14 104258539 104258539 single base substitution A G intron_variant SKCA-BR 14 104258884 104258884 single base substitution C T intron_variant SKCA-BR 14 104264697 104264697 single base substitution G A intron_variant SKCA-BR 14 104265274 104265274 single base substitution G C intron_variant SKCA-BR 14 104270659 104270659 single base substitution A T intron_variant SKCA-BR 14 104271103 104271103 single base substitution C T intron_variant SKCA-BR 14 104275918 104275918 single base substitution G A intron_variant SKCA-BR 14 104277101 104277101 single base substitution C T intron_variant SKCA-BR 14 104277419 104277419 single base substitution G A intron_variant SKCA-BR 14 104280734 104280734 single base substitution T C intron_variant SKCA-BR 14 104280980 104280980 insertion of <=200bp - TA intron_variant SKCA-BR 14 104283580 104283580 single base substitution G T intron_variant SKCA-BR 14 104286720 104286720 single base substitution T C intron_variant SKCA-BR 14 104292792 104292792 single base substitution C T intron_variant SKCA-BR 14 104293047 104293047 insertion of <=200bp - CA intron_variant SKCA-BR 14 104294924 104294924 single base substitution G A intron_variant SKCA-BR 14 104295828 104295828 single base substitution G A intron_variant SKCA-BR 14 104297280 104297281 deletion of <=200bp AT - intron_variant SKCA-BR 14 104297502 104297502 single base substitution G A intron_variant SKCA-BR 14 104305540 104305540 single base substitution G A intron_variant SKCA-BR 14 104306319 104306319 single base substitution A C intron_variant SKCA-BR 14 104312962 104312962 single base substitution G A intron_variant SKCA-BR 14 104312963 104312963 single base substitution G A intron_variant SKCA-BR 14 104313341 104313341 single base substitution G A intron_variant SKCA-BR 14 104313341 104313341 single base substitution G A upstream_gene_variant SKCA-BR 14 104313571 104313571 single base substitution G A intron_variant SKCA-BR 14 104313571 104313571 single base substitution G A upstream_gene_variant SKCA-BR 14 104314012 104314012 single base substitution G A upstream_gene_variant SKCA-BR 14 104314485 104314485 single base substitution T C upstream_gene_variant SKCA-BR 14 104316302 104316303 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 14 104318618 104318618 single base substitution G T upstream_gene_variant SKCM-US 14 104195265 104195265 single base substitution T C downstream_gene_variant SKCM-US 14 104201504 104201504 single base substitution C T 3_prime_UTR_variant SKCM-US 14 104201504 104201504 single base substitution C T downstream_gene_variant SKCM-US 14 104201504 104201504 single base substitution C T exon_variant SKCM-US 14 104201504 104201504 single base substitution C T intron_variant SKCM-US 14 104201504 104201504 single base substitution C T missense_variant R1087Q 3260G>A SKCM-US 14 104206311 104206311 single base substitution G T 3_prime_UTR_variant SKCM-US 14 104206311 104206311 single base substitution G T downstream_gene_variant SKCM-US 14 104206311 104206311 single base substitution G T exon_variant SKCM-US 14 104206311 104206311 single base substitution G T synonymous_variant A233A 699C>A SKCM-US 14 104206311 104206311 single base substitution G T synonymous_variant A814A 2442C>A SKCM-US 14 104206311 104206311 single base substitution G T upstream_gene_variant SKCM-US 14 104206624 104206624 single base substitution G A 3_prime_UTR_variant SKCM-US 14 104206624 104206624 single base substitution G A downstream_gene_variant SKCM-US 14 104206624 104206624 single base substitution G A exon_variant SKCM-US 14 104206624 104206624 single base substitution G A intron_variant SKCM-US 14 104206624 104206624 single base substitution G A missense_variant S129F 386C>T SKCM-US 14 104206624 104206624 single base substitution G A missense_variant S710F 2129C>T SKCM-US 14 104206624 104206624 single base substitution G A upstream_gene_variant SKCM-US 14 104206730 104206730 single base substitution G A 3_prime_UTR_variant SKCM-US 14 104206730 104206730 single base substitution G A downstream_gene_variant SKCM-US 14 104206730 104206730 single base substitution G A exon_variant SKCM-US 14 104206730 104206730 single base substitution G A intron_variant SKCM-US 14 104206730 104206730 single base substitution G A missense_variant L675F 2023C>T SKCM-US 14 104206730 104206730 single base substitution G A missense_variant L94F 280C>T SKCM-US 14 104206730 104206730 single base substitution G A upstream_gene_variant SKCM-US 14 104206788 104206788 single base substitution G A 3_prime_UTR_variant SKCM-US 14 104206788 104206788 single base substitution G A downstream_gene_variant SKCM-US 14 104206788 104206788 single base substitution G A exon_variant SKCM-US 14 104206788 104206788 single base substitution G A intron_variant SKCM-US 14 104206788 104206788 single base substitution G A synonymous_variant A655A 1965C>T SKCM-US 14 104206788 104206788 single base substitution G A synonymous_variant A74A 222C>T SKCM-US 14 104206788 104206788 single base substitution G A upstream_gene_variant SKCM-US 14 104206791 104206791 single base substitution G A 3_prime_UTR_variant SKCM-US 14 104206791 104206791 single base substitution G A downstream_gene_variant SKCM-US 14 104206791 104206791 single base substitution G A exon_variant SKCM-US 14 104206791 104206791 single base substitution G A intron_variant SKCM-US 14 104206791 104206791 single base substitution G A synonymous_variant P654P 1962C>T SKCM-US 14 104206791 104206791 single base substitution G A synonymous_variant P73P 219C>T SKCM-US 14 104206791 104206791 single base substitution G A upstream_gene_variant SKCM-US 14 104208206 104208206 single base substitution G A 3_prime_UTR_variant SKCM-US 14 104208206 104208206 single base substitution G A 5_prime_UTR_variant SKCM-US 14 104208206 104208206 single base substitution G A downstream_gene_variant SKCM-US 14 104208206 104208206 single base substitution G A exon_variant SKCM-US 14 104208206 104208206 single base substitution G A intron_variant SKCM-US 14 104208206 104208206 single base substitution G A synonymous_variant S581S 1743C>T SKCM-US 14 104208206 104208206 single base substitution G A upstream_gene_variant SKCM-US 14 104208349 104208349 single base substitution C T 3_prime_UTR_variant SKCM-US 14 104208349 104208349 single base substitution C T 5_prime_UTR_variant SKCM-US 14 104208349 104208349 single base substitution C T downstream_gene_variant SKCM-US 14 104208349 104208349 single base substitution C T exon_variant SKCM-US 14 104208349 104208349 single base substitution C T intron_variant SKCM-US 14 104208349 104208349 single base substitution C T missense_variant G534R 1600G>A SKCM-US 14 104208349 104208349 single base substitution C T upstream_gene_variant SKCM-US 14 104208499 104208499 single base substitution C T 3_prime_UTR_variant SKCM-US 14 104208499 104208499 single base substitution C T 5_prime_UTR_variant SKCM-US 14 104208499 104208499 single base substitution C T downstream_gene_variant SKCM-US 14 104208499 104208499 single base substitution C T exon_variant SKCM-US 14 104208499 104208499 single base substitution C T intron_variant SKCM-US 14 104208499 104208499 single base substitution C T missense_variant E484K 1450G>A SKCM-US 14 104208499 104208499 single base substitution C T upstream_gene_variant SKCM-US 14 104208524 104208524 single base substitution C T 3_prime_UTR_variant SKCM-US 14 104208524 104208524 single base substitution C T 5_prime_UTR_variant SKCM-US 14 104208524 104208524 single base substitution C T downstream_gene_variant SKCM-US 14 104208524 104208524 single base substitution C T exon_variant SKCM-US 14 104208524 104208524 single base substitution C T intron_variant SKCM-US 14 104208524 104208524 single base substitution C T synonymous_variant S475S 1425G>A SKCM-US 14 104208524 104208524 single base substitution C T upstream_gene_variant SKCM-US 14 104212809 104212809 single base substitution G A 3_prime_UTR_variant SKCM-US 14 104212809 104212809 single base substitution G A 5_prime_UTR_variant SKCM-US 14 104212809 104212809 single base substitution G A downstream_gene_variant SKCM-US 14 104212809 104212809 single base substitution G A exon_variant SKCM-US 14 104212809 104212809 single base substitution G A intron_variant SKCM-US 14 104212809 104212809 single base substitution G A stop_gained Q351* 1051C>T SKCM-US 14 104212809 104212809 single base substitution G A upstream_gene_variant SKCM-US 14 104216268 104216268 single base substitution G A 3_prime_UTR_variant SKCM-US 14 104216268 104216268 single base substitution G A downstream_gene_variant SKCM-US 14 104216268 104216268 single base substitution G A intron_variant SKCM-US 14 104216268 104216268 single base substitution G A missense_variant R278C 832C>T SKCM-US 14 104216268 104216268 single base substitution G A upstream_gene_variant SKCM-US 14 104245089 104245089 single base substitution T G downstream_gene_variant SKCM-US 14 104245089 104245089 single base substitution T G exon_variant SKCM-US 14 104245089 104245089 single base substitution T G intron_variant SKCM-US 14 104245089 104245089 single base substitution T G missense_variant E113A 338A>C SKCM-US 14 104245089 104245089 single base substitution T G missense_variant E116A 347A>C SKCM-US 14 104251219 104251219 single base substitution C T exon_variant SKCM-US 14 104251219 104251219 single base substitution C T intron_variant SKCM-US 14 104251219 104251219 single base substitution C T missense_variant E61K 181G>A SKCM-US 14 104251219 104251219 single base substitution C T missense_variant E64K 190G>A SKCM-US 14 104251219 104251219 single base substitution C T missense_variant E93K 277G>A STAD-US 14 104199060 104199060 single base substitution C T downstream_gene_variant STAD-US 14 104201496 104201496 single base substitution C T 3_prime_UTR_variant STAD-US 14 104201496 104201496 single base substitution C T downstream_gene_variant STAD-US 14 104201496 104201496 single base substitution C T exon_variant STAD-US 14 104201496 104201496 single base substitution C T intron_variant STAD-US 14 104201496 104201496 single base substitution C T missense_variant A1090T 3268G>A STAD-US 14 104204115 104204115 single base substitution A C 3_prime_UTR_variant STAD-US 14 104204115 104204115 single base substitution A C downstream_gene_variant STAD-US 14 104204115 104204115 single base substitution A C exon_variant STAD-US 14 104204115 104204115 single base substitution A C intron_variant STAD-US 14 104204115 104204115 single base substitution A C missense_variant S983A 2947T>G STAD-US 14 104204115 104204115 single base substitution A C upstream_gene_variant STAD-US 14 104205315 104205315 single base substitution G A 3_prime_UTR_variant STAD-US 14 104205315 104205315 single base substitution G A downstream_gene_variant STAD-US 14 104205315 104205315 single base substitution G A exon_variant STAD-US 14 104205315 104205315 single base substitution G A missense_variant H299Y 895C>T STAD-US 14 104205315 104205315 single base substitution G A missense_variant H880Y 2638C>T STAD-US 14 104205315 104205315 single base substitution G A upstream_gene_variant STAD-US 14 104206305 104206305 single base substitution C T 3_prime_UTR_variant STAD-US 14 104206305 104206305 single base substitution C T downstream_gene_variant STAD-US 14 104206305 104206305 single base substitution C T exon_variant STAD-US 14 104206305 104206305 single base substitution C T synonymous_variant P235P 705G>A STAD-US 14 104206305 104206305 single base substitution C T synonymous_variant P816P 2448G>A STAD-US 14 104206305 104206305 single base substitution C T upstream_gene_variant STAD-US 14 104206432 104206432 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 14 104206432 104206432 deletion of <=200bp G - downstream_gene_variant STAD-US 14 104206432 104206432 deletion of <=200bp G - exon_variant STAD-US 14 104206432 104206432 deletion of <=200bp G - frameshift_variant P193 STAD-US 14 104206432 104206432 deletion of <=200bp G - frameshift_variant P774 STAD-US 14 104206432 104206432 deletion of <=200bp G - intron_variant STAD-US 14 104206432 104206432 deletion of <=200bp G - upstream_gene_variant STAD-US 14 104206767 104206767 single base substitution G A 3_prime_UTR_variant STAD-US 14 104206767 104206767 single base substitution G A downstream_gene_variant STAD-US 14 104206767 104206767 single base substitution G A exon_variant STAD-US 14 104206767 104206767 single base substitution G A intron_variant STAD-US 14 104206767 104206767 single base substitution G A synonymous_variant T662T 1986C>T STAD-US 14 104206767 104206767 single base substitution G A synonymous_variant T81T 243C>T STAD-US 14 104206767 104206767 single base substitution G A upstream_gene_variant STAD-US 14 104208418 104208418 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 14 104208418 104208418 deletion of <=200bp G - 5_prime_UTR_variant STAD-US 14 104208418 104208418 deletion of <=200bp G - downstream_gene_variant STAD-US 14 104208418 104208418 deletion of <=200bp G - exon_variant STAD-US 14 104208418 104208418 deletion of <=200bp G - frameshift_variant Q511 STAD-US 14 104208418 104208418 deletion of <=200bp G - intron_variant STAD-US 14 104208418 104208418 deletion of <=200bp G - upstream_gene_variant STAD-US 14 104212794 104212794 single base substitution C T 3_prime_UTR_variant STAD-US 14 104212794 104212794 single base substitution C T 5_prime_UTR_variant STAD-US 14 104212794 104212794 single base substitution C T downstream_gene_variant STAD-US 14 104212794 104212794 single base substitution C T exon_variant STAD-US 14 104212794 104212794 single base substitution C T intron_variant STAD-US 14 104212794 104212794 single base substitution C T missense_variant G356R 1066G>A STAD-US 14 104212794 104212794 single base substitution C T upstream_gene_variant STAD-US 14 104216136 104216136 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 14 104216136 104216136 deletion of <=200bp T - downstream_gene_variant STAD-US 14 104216136 104216136 deletion of <=200bp T - frameshift_variant I322 STAD-US 14 104216136 104216136 deletion of <=200bp T - intron_variant STAD-US 14 104216136 104216136 deletion of <=200bp T - upstream_gene_variant STAD-US 14 104219502 104219502 single base substitution G T 3_prime_UTR_variant STAD-US 14 104219502 104219502 single base substitution G T downstream_gene_variant STAD-US 14 104219502 104219502 single base substitution G T intron_variant STAD-US 14 104219502 104219502 single base substitution G T missense_variant F221L 663C>A STAD-US 14 104251213 104251245 deletion of <=200bp GATGTTCGTACATCATATGATCAAAGGGTATGG - disruptive_inframe_deletion PIPFDHMMYEHL52L STAD-US 14 104251213 104251245 deletion of <=200bp GATGTTCGTACATCATATGATCAAAGGGTATGG - disruptive_inframe_deletion PIPFDHMMYEHL55L STAD-US 14 104251213 104251245 deletion of <=200bp GATGTTCGTACATCATATGATCAAAGGGTATGG - disruptive_inframe_deletion PIPFDHMMYEHL84L STAD-US 14 104251213 104251245 deletion of <=200bp GATGTTCGTACATCATATGATCAAAGGGTATGG - exon_variant STAD-US 14 104251213 104251245 deletion of <=200bp GATGTTCGTACATCATATGATCAAAGGGTATGG - intron_variant THCA-SA 14 104199356 104199356 single base substitution C T downstream_gene_variant THCA-SA 14 104199580 104199580 single base substitution A C downstream_gene_variant THCA-US 14 104224043 104224043 single base substitution T C 3_prime_UTR_variant THCA-US 14 104224043 104224043 single base substitution T C exon_variant THCA-US 14 104224043 104224043 single base substitution T C intron_variant THCA-US 14 104224043 104224043 single base substitution T C missense_variant M131V 391A>G THCA-US 14 104224043 104224043 single base substitution T C missense_variant M134V 400A>G UCEC-US 14 104195253 104195253 single base substitution T A downstream_gene_variant UCEC-US 14 104198969 104198969 single base substitution G A downstream_gene_variant UCEC-US 14 104198997 104198997 single base substitution A G downstream_gene_variant UCEC-US 14 104205139 104205139 single base substitution G T 3_prime_UTR_variant UCEC-US 14 104205139 104205139 single base substitution G T downstream_gene_variant UCEC-US 14 104205139 104205139 single base substitution G T exon_variant UCEC-US 14 104205139 104205139 single base substitution G T missense_variant P333H 998C>A UCEC-US 14 104205139 104205139 single base substitution G T missense_variant P914H 2741C>A UCEC-US 14 104205139 104205139 single base substitution G T upstream_gene_variant UCEC-US 14 104206283 104206283 single base substitution C T 3_prime_UTR_variant UCEC-US 14 104206283 104206283 single base substitution C T downstream_gene_variant UCEC-US 14 104206283 104206283 single base substitution C T exon_variant UCEC-US 14 104206283 104206283 single base substitution C T missense_variant V243M 727G>A UCEC-US 14 104206283 104206283 single base substitution C T missense_variant V824M 2470G>A UCEC-US 14 104206283 104206283 single base substitution C T upstream_gene_variant UCEC-US 14 104206407 104206407 single base substitution G A 3_prime_UTR_variant UCEC-US 14 104206407 104206407 single base substitution G A downstream_gene_variant UCEC-US 14 104206407 104206407 single base substitution G A exon_variant UCEC-US 14 104206407 104206407 single base substitution G A splice_region_variant UCEC-US 14 104206407 104206407 single base substitution G A synonymous_variant P201P 603C>T UCEC-US 14 104206407 104206407 single base substitution G A synonymous_variant P782P 2346C>T UCEC-US 14 104206407 104206407 single base substitution G A upstream_gene_variant UCEC-US 14 104206650 104206650 single base substitution C T 3_prime_UTR_variant UCEC-US 14 104206650 104206650 single base substitution C T downstream_gene_variant UCEC-US 14 104206650 104206650 single base substitution C T exon_variant UCEC-US 14 104206650 104206650 single base substitution C T intron_variant UCEC-US 14 104206650 104206650 single base substitution C T synonymous_variant A120A 360G>A UCEC-US 14 104206650 104206650 single base substitution C T synonymous_variant A701A 2103G>A UCEC-US 14 104206650 104206650 single base substitution C T upstream_gene_variant UCEC-US 14 104206784 104206784 single base substitution G A 3_prime_UTR_variant UCEC-US 14 104206784 104206784 single base substitution G A downstream_gene_variant UCEC-US 14 104206784 104206784 single base substitution G A exon_variant UCEC-US 14 104206784 104206784 single base substitution G A intron_variant UCEC-US 14 104206784 104206784 single base substitution G A missense_variant P657S 1969C>T UCEC-US 14 104206784 104206784 single base substitution G A missense_variant P76S 226C>T UCEC-US 14 104206784 104206784 single base substitution G A upstream_gene_variant UCEC-US 14 104208176 104208176 single base substitution C A 3_prime_UTR_variant UCEC-US 14 104208176 104208176 single base substitution C A downstream_gene_variant UCEC-US 14 104208176 104208176 single base substitution C A exon_variant UCEC-US 14 104208176 104208176 single base substitution C A intron_variant UCEC-US 14 104208176 104208176 single base substitution C A missense_variant K10N 30G>T UCEC-US 14 104208176 104208176 single base substitution C A missense_variant K591N 1773G>T UCEC-US 14 104208176 104208176 single base substitution C A upstream_gene_variant UCEC-US 14 104212711 104212711 single base substitution G A downstream_gene_variant UCEC-US 14 104212711 104212711 single base substitution G A exon_variant UCEC-US 14 104212711 104212711 single base substitution G A intron_variant UCEC-US 14 104212711 104212711 single base substitution G A splice_region_variant UCEC-US 14 104212711 104212711 single base substitution G A upstream_gene_variant UCEC-US 14 104212755 104212755 single base substitution A G 3_prime_UTR_variant UCEC-US 14 104212755 104212755 single base substitution A G 5_prime_UTR_variant UCEC-US 14 104212755 104212755 single base substitution A G downstream_gene_variant UCEC-US 14 104212755 104212755 single base substitution A G exon_variant UCEC-US 14 104212755 104212755 single base substitution A G intron_variant UCEC-US 14 104212755 104212755 single base substitution A G missense_variant S369P 1105T>C UCEC-US 14 104212755 104212755 single base substitution A G upstream_gene_variant UCEC-US 14 104220488 104220488 single base substitution C A 3_prime_UTR_variant UCEC-US 14 104220488 104220488 single base substitution C A downstream_gene_variant UCEC-US 14 104220488 104220488 single base substitution C A intron_variant UCEC-US 14 104220488 104220488 single base substitution C A stop_gained E184* 550G>T UCEC-US 14 104220493 104220493 single base substitution C T 3_prime_UTR_variant UCEC-US 14 104220493 104220493 single base substitution C T downstream_gene_variant UCEC-US 14 104220493 104220493 single base substitution C T intron_variant UCEC-US 14 104220493 104220493 single base substitution C T missense_variant R182Q 545G>A UCEC-US 14 104245134 104245134 single base substitution C T exon_variant UCEC-US 14 104245134 104245134 single base substitution C T intron_variant UCEC-US 14 104245134 104245134 single base substitution C T missense_variant R101Q 302G>A UCEC-US 14 104245134 104245134 single base substitution C T missense_variant R130Q 389G>A UCEC-US 14 104245134 104245134 single base substitution C T missense_variant R98Q 293G>A UCEC-US 14 104263820 104263820 single base substitution C T exon_variant UCEC-US 14 104263820 104263820 single base substitution C T intron_variant UCEC-US 14 104263820 104263820 single base substitution C T synonymous_variant Q12Q 36G>A UCEC-US 14 104263820 104263820 single base substitution C T synonymous_variant Q15Q 45G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CM-6162-01 COSM1368445 c.2624C>T p.S875L Substitution - Missense 14:103738992-103738992 - B105-0 COSM1748721 c.2663C>A p.P888H Substitution - Missense 14:103738953-103738953 - PT32 COSM5907649 c.1588T>C p.Y530H Substitution - Missense 14:103742024-103742024 - TCGA-LG-A6GG-01 COSM4939482 c.2014C>T p.P672S Substitution - Missense 14:103740402-103740402 - TCGA-AP-A0LM-01 COSM953674 c.1105T>C p.S369P Substitution - Missense 14:103746418-103746418 - LUAD-D02085 COSM363267 c.2640C>T p.H880H Substitution - coding silent 14:103738976-103738976 - NCI-H522 COSM1197096 c.3012G>C p.Q1004H Substitution - Missense 14:103737713-103737713 - B105-1 COSM1748722 c.408T>G p.A136A Substitution - coding silent 14:103757698-103757698 - TCGA-BS-A0TC-01 COSM284182 c.302G>A p.R101Q Substitution - Missense 14:103778797-103778797 - TCGA-D1-A177-01 COSM953677 c.286C>T p.Q96* Substitution - Nonsense 14:103778813-103778813 - TCGA-33-6737-01 COSM696982 c.1685C>G p.S562* Substitution - Nonsense 14:103741927-103741927 - TCGA-G3-A25S-01 COSM4926987 c.2865-2A>G p.? Unknown 14:103737862-103737862 - TCGA-AM-5821-01 COSM3753798 c.2757C>T p.D919D Substitution - coding silent 14:103738786-103738786 - CSCC-38-T COSM4557834 c.742G>A p.G248R Substitution - Missense 14:103753086-103753086 - TCGA-DK-A3X1-01 COSM3793498 c.3254G>A p.R1085Q Substitution - Missense 14:103735173-103735173 - TCGA-BS-A0UF-01 COSM953675 c.550G>T p.E184* Substitution - Nonsense 14:103754151-103754151 - TCGA-EI-6917-01 COSM3419654 c.311G>T p.R104I Substitution - Missense 14:103778788-103778788 - T469 COSM4717056 c.925C>T p.R309* Substitution - Nonsense 14:103749838-103749838 - ZZUFHECRKL-G071T COSM5438892 c.2407G>A p.E803K Substitution - Missense 14:103740009-103740009 - 8057574 COSM3386423 c.3251C>T p.P1084L Substitution - Missense 14:103735176-103735176 - ccRCC-66 COSM1659895 c.2316C>G p.L772L Substitution - coding silent 14:103740100-103740100 - 587220 COSM1221728 c.1243G>A p.V415M Substitution - Missense 14:103742731-103742731 - MO_1176 COSM5566748 c.2185C>T p.R729C Substitution - Missense 14:103740231-103740231 - LIM2405 COSM4641848 c.1457G>C p.S486T Substitution - Missense 14:103742155-103742155 - 587228 COSM1221729 c.464G>A p.R155H Substitution - Missense 14:103754237-103754237 - TCGA-AA-3877-01 COSM296514 c.1531delC p.Q511fs*39 Deletion - Frameshift 14:103742081-103742081 - EGC15 COSM5053810 c.213A>G p.P71P Substitution - coding silent 14:103784859-103784859 - CN-AML-08-T COSM5426031 c.1663C>A p.P555T Substitution - Missense 14:103741949-103741949 - TCGA-EE-A20H-06 COSM3494024 c.1051C>T p.Q351* Substitution - Nonsense 14:103746472-103746472 - HCT-116 COSM1684398 c.2393delC p.E800fs*71 Deletion - Frameshift 14:103740023-103740023 - T407 COSM432706 c.2102C>T p.A701V Substitution - Missense 14:103740314-103740314 - HCC21T COSM1607368 c.2367A>T p.S789S Substitution - coding silent 14:103740049-103740049 - Gp2D COSM296514 c.1531delC p.Q511fs*39 Deletion - Frameshift 14:103742081-103742081 - Gp5D COSM296514 c.1531delC p.Q511fs*39 Deletion - Frameshift 14:103742081-103742081 - CSCC-16-T COSM4494491 c.433C>T p.Q145* Substitution - Nonsense 14:103757673-103757673 - JEKO-1 COSM1740079 c.563A>T p.N188I Substitution - Missense 14:103754138-103754138 - YUOTHO COSM5381912 c.879G>A p.K293K Substitution - coding silent 14:103749884-103749884 - 399 COSM4429132 c.1121C>T p.S374L Substitution - Missense 14:103746402-103746402 - TCGA-A7-A26H-01 COSM1477386 c.10A>T p.M4L Substitution - Missense 14:103797518-103797518 - ESCC_37 COSM5628900 c.2338C>T p.P780S Substitution - Missense 14:103740078-103740078 - CCK81 COSM2025746 c.2685G>A p.A895A Substitution - coding silent 14:103738931-103738931 - PTC-14C COSM4147846 c.1487G>T p.S496I Substitution - Missense 14:103742125-103742125 - TCGA-D1-A17D-01 COSM953667 c.2470G>A p.V824M Substitution - Missense 14:103739946-103739946 - TCGA-EE-A2A2-06 COSM3494021 c.1600G>A p.G534R Substitution - Missense 14:103742012-103742012 - TCGA-AD-6964-01 COSM3689907 c.2137G>A p.E713K Substitution - Missense 14:103740279-103740279 - CSCC-52-T COSM4514218 c.967C>T p.Q323* Substitution - Nonsense 14:103749796-103749796 - BK0073 COSM4188586 c.493C>T p.R165C Substitution - Missense 14:103754208-103754208 - HCC21 COSM1607368 c.2367A>T p.S789S Substitution - coding silent 14:103740049-103740049 - TCGA-FD-A3B3-01 COSM1300414 c.116G>A p.G39E Substitution - Missense 14:103797412-103797412 - T464 COSM296514 c.1531delC p.Q511fs*39 Deletion - Frameshift 14:103742081-103742081 - B105-0-Tumor COSM1748721 c.2663C>A p.P888H Substitution - Missense 14:103738953-103738953 - TCGA-BR-4370-01 COSM2025736 c.3268G>A p.A1090T Substitution - Missense 14:103735159-103735159 - TCGA-BF-A3DM-01 COSM3885672 c.190G>A p.E64K Substitution - Missense 14:103784882-103784882 - CSCC-15-T COSM4564770 c.1433_1434CC>TT p.S478F Substitution - Missense 14:103742178-103742179 - S02242 COSM5677135 c.2881G>T p.A961S Substitution - Missense 14:103737844-103737844 - TCGA-59-2352-01 COSM80381 c.792G>A p.A264A Substitution - coding silent 14:103753036-103753036 - LIM2405 COSM4641847 c.2360C>T p.P787L Substitution - Missense 14:103740056-103740056 - OSCC-GB_01160111 COSM5956155 c.947G>A p.R316H Substitution - Missense 14:103749816-103749816 - TCGA-CC-A3MA-01 COSM4942793 c.1894T>C p.S632P Substitution - Missense 14:103740522-103740522 - TCGA-ED-A7PZ-01 COSM4916903 c.1294T>G p.S432A Substitution - Missense 14:103742680-103742680 - Au4 COSM5604571 c.1551G>A p.Q517Q Substitution - coding silent 14:103742061-103742061 - TCGA-BR-8382-01 COSM4049338 c.2448G>A p.P816P Substitution - coding silent 14:103739968-103739968 - TCGA-AP-A059-01 COSM953679 c.45G>A p.Q15Q Substitution - coding silent 14:103797483-103797483 - HF-23896 COSM1197700 c.613A>G p.I205V Substitution - Missense 14:103754088-103754088 - OSCC-GB_00660111 COSM4888791 c.997C>A p.P333T Substitution - Missense 14:103746526-103746526 - BD57T COSM5510715 c.2361G>A p.P787P Substitution - coding silent 14:103740055-103740055 - TCGA-EK-A2RK-01 COSM4828834 c.386C>G p.S129* Substitution - Nonsense 14:103757720-103757720 - TCGA-DC-6154-01 COSM3419652 c.1592C>T p.P531L Substitution - Missense 14:103742020-103742020 - CSCC-20-T COSM4482154 c.2578C>T p.P860S Substitution - Missense 14:103739838-103739838 - TCGA-AP-A0LT-01 COSM953671 c.1969C>T p.P657S Substitution - Missense 14:103740447-103740447 - ATL012 COSM5705632 c.1958G>A p.G653D Substitution - Missense 14:103740458-103740458 - ESCC_55 COSM5631778 c.309G>C p.Q103H Substitution - Missense 14:103778790-103778790 - Pat_16_B COSM5847637 c.2758G>A p.E920K Substitution - Missense 14:103738785-103738785 - C70 COSM4619422 c.1972G>A p.A658T Substitution - Missense 14:103740444-103740444 - 1115161 COSM5573500 c.631+1G>A p.? Unknown 14:103754069-103754069 - Au1 COSM5597422 c.1438G>A p.E480K Substitution - Missense 14:103742174-103742174 - TCGA-A2-A0EM-01 COSM432707 c.365C>A p.P122Q Substitution - Missense 14:103757741-103757741 - ESCC_BICR_041T COSM5441234 c.2233C>T p.P745S Substitution - Missense 14:103740183-103740183 - T3724 COSM4717055 c.1152T>C p.A384A Substitution - coding silent 14:103742822-103742822 - TCGA-FS-A4F5-06 COSM3494015 c.2442C>A p.A814A Substitution - coding silent 14:103739974-103739974 - TCGA-EE-A2A2-06 COSM3494018 c.1965C>T p.A655A Substitution - coding silent 14:103740451-103740451 - TCGA-63-5131-01 COSM696979 c.190G>T p.E64* Substitution - Nonsense 14:103784882-103784882 - 182T COSM1726380 c.2477C>T p.T826M Substitution - Missense 14:103739939-103739939 - 587224 COSM469694 c.1673C>T p.A558V Substitution - Missense 14:103741939-103741939 - TCGA-18-3409-01 COSM696984 c.2415C>T p.I805I Substitution - coding silent 14:103740001-103740001 - EGC15 COSM363267 c.2640C>T p.H880H Substitution - coding silent 14:103738976-103738976 - TCGA-39-5027-01 COSM696983 c.2103G>T p.A701A Substitution - coding silent 14:103740313-103740313 - TCGA-D1-A16F-01 COSM953666 c.2741C>A p.P914H Substitution - Missense 14:103738802-103738802 - TCGA-A6-5665-01 COSM1368448 c.698_699insT p.L233fs*4 Insertion - Frameshift 14:103753129-103753130 - TCGA-BP-5176-01 COSM469694 c.1673C>T p.A558V Substitution - Missense 14:103741939-103741939 - TCGA-EK-A3GK-01 COSM4853485 c.709C>T p.Q237* Substitution - Nonsense 14:103753119-103753119 - TCGA-D3-A1Q6-06 COSM3494014 c.3260G>A p.R1087Q Substitution - Missense 14:103735167-103735167 - TCGA-D9-A6EC-06 COSM4400912 c.832C>T p.R278C Substitution - Missense 14:103749931-103749931 - LC_C9 COSM1188920 c.1511C>T p.P504L Substitution - Missense 14:103742101-103742101 - 587336 COSM1221730 c.85C>T p.R29* Substitution - Nonsense 14:103797443-103797443 - RK308_C01 COSM3744233 c.2776C>T p.H926Y Substitution - Missense 14:103738767-103738767 - 46M COSM5588715 c.2545C>T p.P849S Substitution - Missense 14:103739871-103739871 - RKO COSM2025757 c.2218A>G p.T740A Substitution - Missense 14:103740198-103740198 - HX9T COSM1607368 c.2367A>T p.S789S Substitution - coding silent 14:103740049-103740049 - TCGA-EE-A29R-06 COSM3494017 c.2023C>T p.L675F Substitution - Missense 14:103740393-103740393 - TCGA-AP-A0LM-01 COSM953676 c.545G>A p.R182Q Substitution - Missense 14:103754156-103754156 - TCGA-AA-A010-01 COSM284181 c.855A>C p.Q285H Substitution - Missense 14:103749908-103749908 - 1946219 COSM1197700 c.613A>G p.I205V Substitution - Missense 14:103754088-103754088 - PT38 COSM5923091 c.278-6C>T p.? Unknown 14:103778827-103778827 - CSCC-38-T COSM4478475 c.2240C>T p.P747L Substitution - Missense 14:103740176-103740176 - HCC15 COSM1607369 c.220G>A p.E74K Substitution - Missense 14:103784852-103784852 - HCC15T COSM1607369 c.220G>A p.E74K Substitution - Missense 14:103784852-103784852 - YUDON COSM5381911 c.942T>C p.R314R Substitution - coding silent 14:103749821-103749821 - DLD1 COSM4622893 c.3070G>A p.A1024T Substitution - Missense 14:103736164-103736164 - TCGA-AR-A24Q-01 COSM3814307 c.1682G>T p.G561V Substitution - Missense 14:103741930-103741930 - TCGA-B5-A11U-01 COSM953669 c.2346C>T p.P782P Substitution - coding silent 14:103740070-103740070 - TCGA-A3-3365-01 COSM469695 c.782C>T p.T261M Substitution - Missense 14:103753046-103753046 - TCGA-ER-A3PL-06 COSM3494016 c.2129C>T p.S710F Substitution - Missense 14:103740287-103740287 - TCGA-66-2785-01 COSM696980 c.1160G>C p.G387A Substitution - Missense 14:103742814-103742814 - 40M COSM5586297 c.460C>T p.Q154* Substitution - Nonsense 14:103754241-103754241 - tumor_4166706 COSM3952926 c.247G>A p.E83K Substitution - Missense 14:103784825-103784825 - TCGA-BG-A0MG-01 COSM953668 c.2397C>T p.P799P Substitution - coding silent 14:103740019-103740019 - TCGA-CG-4462-01 COSM3419653 c.1066G>A p.G356R Substitution - Missense 14:103746457-103746457 - MOLT-4 COSM1221731 c.940C>T p.R314C Substitution - Missense 14:103749823-103749823 - TCGA-B5-A0JY-01 COSM953672 c.1773G>T p.K591N Substitution - Missense 14:103741839-103741839 - PT49 COSM5936080 c.1622G>A p.G541E Substitution - Missense 14:103741990-103741990 - LS180 COSM296514 c.1531delC p.Q511fs*39 Deletion - Frameshift 14:103742081-103742081 - TCGA-DJ-A1QE-01 COSM3369900 c.400A>G p.M134V Substitution - Missense 14:103757706-103757706 - TCGA-ER-A19N-06 COSM3494023 c.1425G>A p.S475S Substitution - coding silent 14:103742187-103742187 - TCGA-56-1622-01 COSM696987 c.3051T>C p.G1017G Substitution - coding silent 14:103736183-103736183 - TCGA-EE-A2M5-06 COSM3494022 c.1450G>A p.E484K Substitution - Missense 14:103742162-103742162 - HN_62421 COSM125536 c.809G>C p.R270T Substitution - Missense 14:103753019-103753019 - AOCS-093-8-4 COSM3983116 c.1589A>C p.Y530S Substitution - Missense 14:103742023-103742023 - EGC3 COSM5053809 c.2100C>T p.N700N Substitution - coding silent 14:103740316-103740316 - ATL035 COSM5705633 c.737A>C p.K246T Substitution - Missense 14:103753091-103753091 - CSCC-38-T COSM4565804 c.2563_2564CC>TT p.P855F Substitution - Missense 14:103739852-103739853 - LUAD-NYU315 COSM373574 c.1885G>T p.G629W Substitution - Missense 14:103740531-103740531 - 9210_T COSM284182 c.302G>A p.R101Q Substitution - Missense 14:103778797-103778797 - ESO-0133 COSM1262845 c.1900G>C p.G634R Substitution - Missense 14:103740516-103740516 - 8069319 COSM4243692 c.1525A>C p.T509P Substitution - Missense 14:103742087-103742087 - ESCC_BICR_041T COSM4717056 c.925C>T p.R309* Substitution - Nonsense 14:103749838-103749838 - CN-AML-NR-08-Dx COSM5426031 c.1663C>A p.P555T Substitution - Missense 14:103741949-103741949 - TCGA-BH-A0H3-01 COSM432706 c.2102C>T p.A701V Substitution - Missense 14:103740314-103740314 - 797T COSM4963467 c.1135G>A p.G379R Substitution - Missense 14:103746388-103746388 - TCGA-AG-A002-01 COSM263072 c.2916G>T p.Q972H Substitution - Missense 14:103737809-103737809 - TCGA-18-3414-01 COSM696978 c.183G>C p.M61I Substitution - Missense 14:103784889-103784889 - MO_1020 COSM5562706 c.1784C>A p.P595Q Substitution - Missense 14:103741828-103741828 - sysucc-783T COSM5483859 c.3133G>A p.A1045T Substitution - Missense 14:103736101-103736101 - TCGA-BR-8361-01 COSM4049339 c.1986C>T p.T662T Substitution - coding silent 14:103740430-103740430 - H522 COSM1197096 c.3012G>C p.Q1004H Substitution - Missense 14:103737713-103737713 - 8014399 COSM3386424 c.2652C>T p.V884V Substitution - coding silent 14:103738964-103738964 - TCGA-MI-A75G-01 COSM4940040 c.2785G>A p.V929I Substitution - Missense 14:103738758-103738758 - CHEWS007 COSM4577697 c.189C>T p.Y63Y Substitution - coding silent 14:103784883-103784883 - OSCC-GB_00770111 COSM4884026 c.2286C>A p.N762K Substitution - Missense 14:103740130-103740130 - ITNET_0797_T COSM4963467 c.1135G>A p.G379R Substitution - Missense 14:103746388-103746388 - TCGA-B5-A0JN-01 COSM953678 c.171C>G p.P57P Substitution - coding silent 14:103784901-103784901 - PT48 COSM953673 c.1149C>T p.S383S Substitution - coding silent 14:103746374-103746374 - LC_C23 COSM1188919 c.2002C>T p.R668W Substitution - Missense 14:103740414-103740414 - TCGA-HR-A2OH-01 COSM2025798 c.61C>T p.P21S Substitution - Missense 14:103797467-103797467 - LUAD-NYU195 COSM371038 c.1710A>T p.G570G Substitution - coding silent 14:103741902-103741902 - TCGA-CG-5726-01 COSM4049336 c.2947T>G p.S983A Substitution - Missense 14:103737778-103737778 - TCGA-AA-A010-01 COSM284182 c.302G>A p.R101Q Substitution - Missense 14:103778797-103778797 - CSCC-49-T COSM4565803 c.2562_2563CC>TT p.P855S Substitution - Missense 14:103739853-103739854 - TCGA-D9-A6EC-06 COSM4401858 c.347A>C p.E116A Substitution - Missense 14:103778752-103778752 - TCGA-33-4532-01 COSM696985 c.2457C>T p.D819D Substitution - coding silent 14:103739959-103739959 - TCGA-EE-A3AA-06 COSM3494020 c.1743C>T p.S581S Substitution - coding silent 14:103741869-103741869 - C0054T COSM4150727 c.390G>A p.E130E Substitution - coding silent 14:103757716-103757716 - 8013014 COSM3386423 c.3251C>T p.P1084L Substitution - Missense 14:103735176-103735176 - TCGA-G2-A3IB-01 COSM1300413 c.2356G>T p.A786S Substitution - Missense 14:103740060-103740060 - TCGA-66-2777-01 COSM696981 c.1498C>A p.P500T Substitution - Missense 14:103742114-103742114 - CSCC-37-T COSM2025788 c.580C>T p.R194C Substitution - Missense 14:103754121-103754121 - TCGA-EI-6917-01 COSM2025788 c.580C>T p.R194C Substitution - Missense 14:103754121-103754121 - TCGA-AA-3973-01 COSM297384 c.301C>T p.R101* Substitution - Nonsense 14:103778798-103778798 - 587332 COSM1221732 c.1099C>T p.P367S Substitution - Missense 14:103746424-103746424 - pfg043T COSM4759682 c.3118T>G p.F1040V Substitution - Missense 14:103736116-103736116 - CSCC-40-T COSM4480108 c.238C>T p.L80F Substitution - Missense 14:103784834-103784834 - TCGA-EE-A3J5-06 COSM3494019 c.1962C>T p.P654P Substitution - coding silent 14:103740454-103740454 - PD24209a COSM5781002 c.346G>A p.E116K Substitution - Missense 14:103778753-103778753 - LUAD-S00488 COSM297384 c.301C>T p.R101* Substitution - Nonsense 14:103778798-103778798 - TCGA-B5-A11U-01 COSM953673 c.1149C>T p.S383S Substitution - coding silent 14:103746374-103746374 - YUMOKI COSM5381910 c.2393C>A p.S798Y Substitution - Missense 14:103740023-103740023 - 1179-01-02TD COSM5418632 c.1036G>A p.V346M Substitution - Missense 14:103746487-103746487 - TCGA-F5-6863-01 COSM3419653 c.1066G>A p.G356R Substitution - Missense 14:103746457-103746457 - BICR_22 COSM2025737 c.3194G>A p.G1065E Substitution - Missense 14:103736040-103736040 - TCGA-EI-6882-01 COSM3419651 c.1899G>A p.T633T Substitution - coding silent 14:103740517-103740517 - LS174T COSM296514 c.1531delC p.Q511fs*39 Deletion - Frameshift 14:103742081-103742081 - TCGA-BR-8059-01 COSM4049337 c.2638C>T p.H880Y Substitution - Missense 14:103738978-103738978 - CHEWS006 COSM200149 c.3132C>T p.D1044D Substitution - coding silent 14:103736102-103736102 - I2L-P7-Tumor-Organoid COSM5362687 c.437A>G p.Q146R Substitution - Missense 14:103757669-103757669 - TCGA-BG-A0LW-01 COSM953670 c.2103G>A p.A701A Substitution - coding silent 14:103740313-103740313 - HCT116 COSM2025754 c.2397delC p.E800fs*71 Deletion - Frameshift 14:103740019-103740019 - Pat_45_B COSM5847638 c.2368G>A p.D790N Substitution - Missense 14:103740048-103740048 - T3446 COSM296514 c.1531delC p.Q511fs*39 Deletion - Frameshift 14:103742081-103742081 - PCA78-1 COSM5415550 c.1490G>A p.R497Q Substitution - Missense 14:103742122-103742122 - TCGA-CG-4466-01 COSM4049340 c.663C>A p.F221L Substitution - Missense 14:103753165-103753165 - 587338 COSM1221731 c.940C>T p.R314C Substitution - Missense 14:103749823-103749823 - T1772 COSM4717054 c.1229G>A p.W410* Substitution - Nonsense 14:103742745-103742745 - TCGA-D5-6928-01 COSM1368447 c.896G>A p.R299H Substitution - Missense 14:103749867-103749867 - SW1222 COSM4654723 c.3213G>A p.V1071V Substitution - coding silent 14:103736021-103736021 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.709297 14q32.33 606455

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S983A c.2947T>G 14 104204115 STAD A G IntronicSNV . c.157+86T>C 14 104263622 CM A G Synonymous p.G1017G c.3051T>C 14 104202520 LUSC A T IntronicSNV . c.828+53T>A 14 104219284 NSCLC A T Missense p.V884D c.2651T>A 14 104205302 STAD C A Missense p.A786S c.2356G>T 14 104206397 BLCA C A Missense p.G347W c.1039G>T 14 104212821 COREAD C A Nonsense p.E64* c.190G>T 14 104251219 LUSC C A Synonymous p.A701A c.2103G>T 14 104206650 LUSC C G Missense p.G634R c.1900G>C 14 104206853 ESCA C G Missense p.M61I c.183G>C 14 104251226 LUSC C G Missense p.R104T c.311G>C 14 104245125 HNSC C G Missense p.R270T c.809G>C 14 104219356 HNSC C T IntronicSNV . c.1150+27G>A 14 104212683 STAD C T IntronicSNV . c.3032-63G>A 14 104202602 CM C T Missense p.A1090T c.3268G>A 14 104201496 STAD C T Missense p.A689T c.2065G>A 14 104206688 STAD C T Missense p.E484K c.1450G>A 14 104208499 CM C T Missense p.E64K c.190G>A 14 104251219 CM C T Missense p.G208D c.623G>A 14 104220415 LGG C T Missense p.G356R c.1066G>A 14 104212794 STAD C T Missense p.G39E c.116G>A 14 104263749 BLCA C T Missense p.G534R c.1600G>A 14 104208349 CM C T Missense p.R101Q c.302G>A 14 104245134 UCEC C T Missense p.R1087Q c.3260G>A 14 104201504 CM C T Missense p.V824M c.2470G>A 14 104206283 UCEC C T Synonymous p.A264A c.792G>A 14 104219373 OV C T Synonymous p.A701A c.2103G>A 14 104206650 UCEC C T Synonymous p.P413P c.1239G>A 14 104209072 HNSC C T Synonymous p.S475S c.1425G>A 14 104208524 CM GAC - InFrameDeletion p.S896delS c.2685_2687delGTC 14 104205266 PRAD G A Missense p.A558V c.1673C>T 14 104208276 RCCC G A Missense p.A701V c.2102C>T 14 104206651 BRCA G A Missense p.L675F c.2023C>T 14 104206730 CM G A Missense p.P21S c.61C>T 14 104263804 CM G A Missense p.P657S c.1969C>T 14 104206784 UCEC G A Nonsense p.Q351* c.1051C>T 14 104212809 CM G A Nonsense p.R101* c.301C>T 14 104245135 COREAD G A Nonsense p.R81* c.241C>T 14 104251168 LUAD G A Synonymous p.A655A c.1965C>T 14 104206788 CM G A Synonymous p.D819D c.2457C>T 14 104206296 LUSC G A Synonymous p.P654P c.1962C>T 14 104206791 CM G A Synonymous p.P777P c.2331C>T 14 104206422 HNSC G A Synonymous p.P782P c.2346C>T 14 104206407 UCEC G A Synonymous p.S383S c.1149C>T 14 104212711 UCEC G A Synonymous p.S581S c.1743C>T 14 104208206 CM G A Synonymous p.S710S c.2130C>T 14 104206623 CM G A Synonymous p.V200V c.600C>T 14 104220438 CM G C IntronicSNV . c.9+3473C>G 14 104310163 CLL G C Nonsense p.S562* c.1685C>G 14 104208264 LUSC G C Synonymous p.P702P c.2106C>G 14 104206647 HNSC - G Frameshift p.S577Kfs*15 c.1727dupC 14 104208222 RCCC GG AA Missense p.T662I c.1985_1986delinsTT 14 104206767 CM G T Missense p.F221L c.663C>A 14 104219502 STAD G T Missense p.P122Q c.365C>A 14 104224078 BRCA G T Missense p.P500T c.1498C>A 14 104208451 LUSC G T Missense p.P914H c.2741C>A 14 104205139 UCEC T A Missense p.M4L c.10A>T 14 104263855 BRCA T A Missense p.N209Y c.625A>T 14 104220413 CM T A SpliceAcceptorSNV . c.457-2A>T 14 104220583 LUAD T C IntronicSNV . c.9+19530A>G 14 104294106 CLL T C Missense p.M134V c.400A>G 14 104224043 THCA T - Frameshift p.N766Mfs*105 c.2297delA 14 104206456 RCCC