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 21 43412530 43412530 + Missense_Mutation SNP C C G TCGA-OR-A5JP-01A-11D-A29I-10 TCGA-OR-A5JP-10A-01D-A29L-10 g.chr21:43412530C>G c.1675G>C c.(1675-1677)Gca>Cca p.A559P BLCA 21 43411159 43411159 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr21:43411159C>T c.3046G>A c.(3046-3048)Gaa>Aaa p.E1016K BLCA 21 43411420 43411420 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr21:43411420C>G c.2785G>C c.(2785-2787)Gag>Cag p.E929Q BLCA 21 43411457 43411457 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr21:43411457C>G c.2748G>C c.(2746-2748)aaG>aaC p.K916N BLCA 21 43411507 43411507 + Missense_Mutation SNP C C G TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr21:43411507C>G c.2698G>C c.(2698-2700)Gcg>Ccg p.A900P BLCA 21 43411627 43411627 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr21:43411627C>G c.2578G>C c.(2578-2580)Gat>Cat p.D860H BLCA 21 43412228 43412228 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr21:43412228C>G c.1977G>C c.(1975-1977)aaG>aaC p.K659N BLCA 21 43412266 43412266 + Nonsense_Mutation SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr21:43412266G>A c.1939C>T c.(1939-1941)Cag>Tag p.Q647* BLCA 21 43412284 43412284 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr21:43412284G>A c.1921C>T c.(1921-1923)Cgc>Tgc p.R641C BLCA 21 43412524 43412524 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr21:43412524G>C c.1681C>G c.(1681-1683)Ctt>Gtt p.L561V BLCA 21 43412609 43412609 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr21:43412609G>A c.1596C>T c.(1594-1596)gaC>gaT p.D532D BLCA 21 43412801 43412801 + Silent SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr21:43412801C>T c.1404G>A c.(1402-1404)ctG>ctA p.L468L BLCA 21 43413043 43413043 + Missense_Mutation SNP C C G TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr21:43413043C>G c.1162G>C c.(1162-1164)Gat>Cat p.D388H BLCA 21 43413217 43413217 + Missense_Mutation SNP C C T TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr21:43413217C>T c.988G>A c.(988-990)Gac>Aac p.D330N BLCA 21 43413477 43413477 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr21:43413477G>A c.728C>T c.(727-729)tCa>tTa p.S243L BLCA 21 43413787 43413787 + Missense_Mutation SNP C C A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr21:43413787C>A c.418G>T c.(418-420)Gat>Tat p.D140Y BLCA 21 43413854 43413854 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr21:43413854G>A c.351C>T c.(349-351)atC>atT p.I117I BLCA 21 43413917 43413917 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr21:43413917C>T c.288G>A c.(286-288)aaG>aaA p.K96K BLCA 21 43414181 43414181 + Silent SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 g.chr21:43414181G>A c.24C>T c.(22-24)atC>atT p.I8I BRCA 21 43411588 43411588 + Nonsense_Mutation SNP G G A TCGA-C8-A12L-01A-11D-A10Y-09 TCGA-C8-A12L-10A-01D-A110-09 g.chr21:43411588G>A c.2617C>T c.(2617-2619)Caa>Taa p.Q873* BRCA 21 43413758 43413758 + Silent SNP G G A TCGA-B6-A409-01A-11D-A243-09 TCGA-B6-A409-10A-01D-A243-09 g.chr21:43413758G>A c.447C>T c.(445-447)gtC>gtT p.V149V BRCA 21 43414183 43414183 + Frame_Shift_Del DEL T T - TCGA-C8-A3M8-01A-11D-A20S-09 TCGA-C8-A3M8-10A-01D-A20S-09 g.chr21:43414183delT c.22delA c.(22-24)atcfs p.I8fs CESC 21 43411540 43411540 + Missense_Mutation SNP C C T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 g.chr21:43411540C>T c.2665G>A c.(2665-2667)Gag>Aag p.E889K CESC 21 43412056 43412056 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr21:43412056C>G c.2149G>C c.(2149-2151)Gaa>Caa p.E717Q CESC 21 43412124 43412124 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr21:43412124C>G c.2081G>C c.(2080-2082)gGa>gCa p.G694A CESC 21 43412671 43412671 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr21:43412671C>G c.1534G>C c.(1534-1536)Gag>Cag p.E512Q CHOL 21 43412457 43412457 + Missense_Mutation SNP C C G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr21:43412457C>G c.1748G>C c.(1747-1749)aGg>aCg p.R583T COAD 21 43411448 43411448 + Silent SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr21:43411448C>A c.2757G>T c.(2755-2757)acG>acT p.T919T COAD 21 43411448 43411448 + Silent SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr21:43411448C>A c.2757G>T c.(2755-2757)acG>acT p.T919T COAD 21 43411448 43411448 + Silent SNP C C A TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr21:43411448C>A c.2757G>T c.(2755-2757)acG>acT p.T919T COAD 21 43411448 43411448 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr21:43411448C>T c.2757G>A c.(2755-2757)acG>acA p.T919T COAD 21 43411450 43411450 + Missense_Mutation SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr21:43411450T>C c.2755A>G c.(2755-2757)Acg>Gcg p.T919A COAD 21 43411450 43411450 + Missense_Mutation SNP T T C TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr21:43411450T>C c.2755A>G c.(2755-2757)Acg>Gcg p.T919A COAD 21 43411786 43411786 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr21:43411786C>T c.2419G>A c.(2419-2421)Gaa>Aaa p.E807K COAD 21 43411860 43411860 + Missense_Mutation SNP C C T TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chr21:43411860C>T c.2345G>A c.(2344-2346)cGc>cAc p.R782H COAD 21 43411860 43411860 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr21:43411860C>T c.2345G>A c.(2344-2346)cGc>cAc p.R782H COAD 21 43411925 43411925 + Silent SNP G G A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr21:43411925G>A c.2280C>T c.(2278-2280)ccC>ccT p.P760P COAD 21 43411967 43411967 + Silent SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr21:43411967G>A c.2238C>T c.(2236-2238)aaC>aaT p.N746N COAD 21 43413208 43413208 + Missense_Mutation SNP C C T TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr21:43413208C>T c.997G>A c.(997-999)Ggc>Agc p.G333S COAD 21 43413325 43413325 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr21:43413325C>A c.880G>T c.(880-882)Gaa>Taa p.E294* COAD 21 43413375 43413375 + Missense_Mutation SNP G G A TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr21:43413375G>A c.830C>T c.(829-831)cCa>cTa p.P277L COAD 21 43413596 43413596 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:43413596T>G c.609A>C c.(607-609)ttA>ttC p.L203F COAD 21 43413719 43413719 + Silent SNP A A C TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr21:43413719A>C c.486T>G c.(484-486)acT>acG p.T162T COAD 21 43414134 43414134 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr21:43414134C>T c.71G>A c.(70-72)cGt>cAt p.R24H COADREAD 21 43411346 43411346 + Missense_Mutation SNP C C A TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr21:43411346C>A c.2859G>T c.(2857-2859)tgG>tgT p.W953C COADREAD 21 43411448 43411448 + Silent SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr21:43411448C>A c.2757G>T c.(2755-2757)acG>acT p.T919T COADREAD 21 43411448 43411448 + Silent SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr21:43411448C>A c.2757G>T c.(2755-2757)acG>acT p.T919T COADREAD 21 43411448 43411448 + Silent SNP C C A TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr21:43411448C>A c.2757G>T c.(2755-2757)acG>acT p.T919T COADREAD 21 43411448 43411448 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr21:43411448C>T c.2757G>A c.(2755-2757)acG>acA p.T919T COADREAD 21 43411450 43411450 + Missense_Mutation SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr21:43411450T>C c.2755A>G c.(2755-2757)Acg>Gcg p.T919A COADREAD 21 43411450 43411450 + Missense_Mutation SNP T T C TCGA-D5-6924-01A-11D-1924-10 TCGA-D5-6924-10A-01D-1924-10 g.chr21:43411450T>C c.2755A>G c.(2755-2757)Acg>Gcg p.T919A COADREAD 21 43411786 43411786 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr21:43411786C>T c.2419G>A c.(2419-2421)Gaa>Aaa p.E807K COADREAD 21 43411789 43411789 + Missense_Mutation SNP T T G TCGA-AG-A014-01A-02W-A00K-09 TCGA-AG-A014-10A-01W-A00K-09 g.chr21:43411789T>G c.2416A>C c.(2416-2418)Acc>Ccc p.T806P COADREAD 21 43411860 43411860 + Missense_Mutation SNP C C T TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chr21:43411860C>T c.2345G>A c.(2344-2346)cGc>cAc p.R782H COADREAD 21 43411860 43411860 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr21:43411860C>T c.2345G>A c.(2344-2346)cGc>cAc p.R782H COADREAD 21 43411925 43411925 + Silent SNP G G A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr21:43411925G>A c.2280C>T c.(2278-2280)ccC>ccT p.P760P COADREAD 21 43411967 43411967 + Silent SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr21:43411967G>A c.2238C>T c.(2236-2238)aaC>aaT p.N746N COADREAD 21 43413208 43413208 + Missense_Mutation SNP C C T TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr21:43413208C>T c.997G>A c.(997-999)Ggc>Agc p.G333S COADREAD 21 43413325 43413325 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr21:43413325C>A c.880G>T c.(880-882)Gaa>Taa p.E294* COADREAD 21 43413375 43413375 + Missense_Mutation SNP G G A TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr21:43413375G>A c.830C>T c.(829-831)cCa>cTa p.P277L COADREAD 21 43413596 43413596 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:43413596T>G c.609A>C c.(607-609)ttA>ttC p.L203F COADREAD 21 43413719 43413719 + Silent SNP A A C TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr21:43413719A>C c.486T>G c.(484-486)acT>acG p.T162T COADREAD 21 43414134 43414134 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr21:43414134C>T c.71G>A c.(70-72)cGt>cAt p.R24H DLBC 21 43413158 43413158 + Silent SNP C C T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr21:43413158C>T c.1047G>A c.(1045-1047)caG>caA p.Q349Q ESCA 21 43411988 43411988 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr21:43411988G>T c.2217C>A c.(2215-2217)agC>agA p.S739R GBMLGG 21 43411483 43411483 + Silent SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 g.chr21:43411483G>A c.2722C>T c.(2722-2724)Ctg>Ttg p.L908L GBMLGG 21 43411516 43411516 + Missense_Mutation SNP G G A TCGA-DU-7010-01A-11D-2024-08 TCGA-DU-7010-10A-01D-2024-08 g.chr21:43411516G>A c.2689C>T c.(2689-2691)Ccc>Tcc p.P897S GBMLGG 21 43411755 43411755 + Missense_Mutation SNP T T C TCGA-DB-A75M-01A-11D-A32B-08 TCGA-DB-A75M-10A-01D-A329-08 g.chr21:43411755T>C c.2450A>G c.(2449-2451)aAt>aGt p.N817S GBMLGG 21 43413378 43413378 + Missense_Mutation SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 g.chr21:43413378C>T c.827G>A c.(826-828)cGg>cAg p.R276Q HNSC 21 43411138 43411138 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr21:43411138C>T c.3067G>A c.(3067-3069)Gaa>Aaa p.E1023K HNSC 21 43411831 43411831 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr21:43411831G>A c.2374C>T c.(2374-2376)Cgg>Tgg p.R792W HNSC 21 43412147 43412147 + Missense_Mutation SNP C C A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr21:43412147C>A c.2058G>T c.(2056-2058)aaG>aaT p.K686N HNSC 21 43412300 43412300 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr21:43412300C>G c.1905G>C c.(1903-1905)ctG>ctC p.L635L HNSC 21 43413679 43413679 + Missense_Mutation SNP G G A TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr21:43413679G>A c.526C>T c.(526-528)Ccc>Tcc p.P176S HNSC 21 43413874 43413875 + Frame_Shift_Ins INS - - C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr21:43413874_43413875insC c.330_331insG c.(328-333)gggattfs p.I111fs HNSC 21 43413920 43413920 + Missense_Mutation SNP C C G TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr21:43413920C>G c.285G>C c.(283-285)gaG>gaC p.E95D HNSC 21 43414197 43414197 + Missense_Mutation SNP C C G TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr21:43414197C>G c.8G>C c.(7-9)gGa>gCa p.G3A KICH 21 43411206 43411206 + Missense_Mutation SNP T T C TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr21:43411206T>C c.2999A>G c.(2998-3000)gAg>gGg p.E1000G KIPAN 21 43411206 43411206 + Missense_Mutation SNP T T C TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr21:43411206T>C c.2999A>G c.(2998-3000)gAg>gGg p.E1000G KIPAN 21 43411959 43411959 + Missense_Mutation SNP A A G TCGA-UZ-A9Q1-01A-11D-A42J-10 TCGA-UZ-A9Q1-10A-01D-A42M-10 g.chr21:43411959A>G c.2246T>C c.(2245-2247)gTc>gCc p.V749A KIPAN 21 43412479 43412479 + Missense_Mutation SNP C C G TCGA-BP-4338-01A-01D-1806-10 TCGA-BP-4338-11A-01D-1366-10 g.chr21:43412479C>G c.1726G>C c.(1726-1728)Gct>Cct p.A576P KIPAN 21 43413025 43413025 + Missense_Mutation SNP C C T TCGA-BP-4985-01A-01D-1462-08 TCGA-BP-4985-11A-01D-1462-08 g.chr21:43413025C>T c.1180G>A c.(1180-1182)Gcc>Acc p.A394T KIPAN 21 43413770 43413770 + Silent SNP T T C TCGA-DZ-6131-01A-11D-1961-08 TCGA-DZ-6131-11A-01D-1961-08 g.chr21:43413770T>C c.435A>G c.(433-435)caA>caG p.Q145Q KIRC 21 43412479 43412479 + Missense_Mutation SNP C C G TCGA-BP-4338-01A-01D-1806-10 TCGA-BP-4338-11A-01D-1366-10 g.chr21:43412479C>G c.1726G>C c.(1726-1728)Gct>Cct p.A576P KIRC 21 43413025 43413025 + Missense_Mutation SNP C C T TCGA-BP-4985-01A-01D-1462-08 TCGA-BP-4985-11A-01D-1462-08 g.chr21:43413025C>T c.1180G>A c.(1180-1182)Gcc>Acc p.A394T KIRP 21 43411959 43411959 + Missense_Mutation SNP A A G TCGA-UZ-A9Q1-01A-11D-A42J-10 TCGA-UZ-A9Q1-10A-01D-A42M-10 g.chr21:43411959A>G c.2246T>C c.(2245-2247)gTc>gCc p.V749A KIRP 21 43413770 43413770 + Silent SNP T T C TCGA-DZ-6131-01A-11D-1961-08 TCGA-DZ-6131-11A-01D-1961-08 g.chr21:43413770T>C c.435A>G c.(433-435)caA>caG p.Q145Q LGG 21 43411483 43411483 + Silent SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 g.chr21:43411483G>A c.2722C>T c.(2722-2724)Ctg>Ttg p.L908L LGG 21 43411516 43411516 + Missense_Mutation SNP G G A TCGA-DU-7010-01A-11D-2024-08 TCGA-DU-7010-10A-01D-2024-08 g.chr21:43411516G>A c.2689C>T c.(2689-2691)Ccc>Tcc p.P897S LGG 21 43411755 43411755 + Missense_Mutation SNP T T C TCGA-DB-A75M-01A-11D-A32B-08 TCGA-DB-A75M-10A-01D-A329-08 g.chr21:43411755T>C c.2450A>G c.(2449-2451)aAt>aGt p.N817S LGG 21 43413378 43413378 + Missense_Mutation SNP C C T TCGA-HT-A5RA-01A-11D-A289-08 TCGA-HT-A5RA-10A-01D-A289-08 g.chr21:43413378C>T c.827G>A c.(826-828)cGg>cAg p.R276Q LIHC 21 43414014 43414014 + Frame_Shift_Del DEL T T - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr21:43414014delT c.191delA c.(190-192)aatfs p.N64fs LUAD 21 43411294 43411294 + Nonsense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 g.chr21:43411294C>A c.2911G>T c.(2911-2913)Gaa>Taa p.E971* LUAD 21 43411535 43411535 + Silent SNP T T A TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr21:43411535T>A c.2670A>T c.(2668-2670)gcA>gcT p.A890A LUAD 21 43411970 43411970 + Silent SNP C C T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr21:43411970C>T c.2235G>A c.(2233-2235)cgG>cgA p.R745R LUAD 21 43412010 43412010 + Missense_Mutation SNP G G C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 g.chr21:43412010G>C c.2195C>G c.(2194-2196)tCt>tGt p.S732C LUAD 21 43412010 43412010 + Missense_Mutation SNP G G C TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr21:43412010G>C c.2195C>G c.(2194-2196)tCt>tGt p.S732C LUAD 21 43412040 43412040 + Missense_Mutation SNP T T C TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr21:43412040T>C c.2165A>G c.(2164-2166)tAc>tGc p.Y722C LUAD 21 43412161 43412161 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr21:43412161G>T c.2044C>A c.(2044-2046)Ctc>Atc p.L682I LUAD 21 43412359 43412359 + Missense_Mutation SNP C C T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr21:43412359C>T c.1846G>A c.(1846-1848)Gaa>Aaa p.E616K LUAD 21 43412359 43412359 + Nonsense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 g.chr21:43412359C>A c.1846G>T c.(1846-1848)Gaa>Taa p.E616* LUAD 21 43412890 43412890 + Missense_Mutation SNP C C A TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr21:43412890C>A c.1315G>T c.(1315-1317)Gac>Tac p.D439Y LUAD 21 43412959 43412959 + Missense_Mutation SNP T T C TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr21:43412959T>C c.1246A>G c.(1246-1248)Aca>Gca p.T416A LUAD 21 43413863 43413863 + Silent SNP C C G TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr21:43413863C>G c.342G>C c.(340-342)ctG>ctC p.L114L LUAD 21 43414063 43414063 + Missense_Mutation SNP A A C TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr21:43414063A>C c.142T>G c.(142-144)Ttg>Gtg p.L48V LUSC 21 43411868 43411868 + Missense_Mutation SNP C C A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr21:43411868C>A c.2337G>T c.(2335-2337)gaG>gaT p.E779D LUSC 21 43411872 43411872 + Missense_Mutation SNP A A C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr21:43411872A>C c.2333T>G c.(2332-2334)cTc>cGc p.L778R LUSC 21 43412128 43412128 + Missense_Mutation SNP G G A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr21:43412128G>A c.2077C>T c.(2077-2079)Cca>Tca p.P693S LUSC 21 43412303 43412303 + Silent SNP G G T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 g.chr21:43412303G>T c.1902C>A c.(1900-1902)gcC>gcA p.A634A OV 21 43411450 43411450 + Missense_Mutation SNP T T G TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 g.chr21:43411450T>G c.2755A>C c.(2755-2757)Acg>Ccg p.T919P OV 21 43411454 43411454 + Missense_Mutation SNP C C T TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 g.chr21:43411454C>T c.2751G>A c.(2749-2751)atG>atA p.M917I OV 21 43411520 43411520 + Silent SNP T T A TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 g.chr21:43411520T>A c.2685A>T c.(2683-2685)acA>acT p.T895T PAAD 21 43411126 43411126 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:43411126G>T c.3079C>A c.(3079-3081)Ctt>Att p.L1027I PAAD 21 43411317 43411317 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:43411317G>A c.2888C>T c.(2887-2889)gCt>gTt p.A963V PAAD 21 43411416 43411416 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:43411416A>C c.2789T>G c.(2788-2790)cTt>cGt p.L930R PRAD 21 43412180 43412180 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 g.chr21:43412180G>A c.2025C>T c.(2023-2025)tgC>tgT p.C675C PRAD 21 43412284 43412284 + Missense_Mutation SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 g.chr21:43412284G>A c.1921C>T c.(1921-1923)Cgc>Tgc p.R641C READ 21 43411346 43411346 + Missense_Mutation SNP C C A TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr21:43411346C>A c.2859G>T c.(2857-2859)tgG>tgT p.W953C READ 21 43411789 43411789 + Missense_Mutation SNP T T G TCGA-AG-A014-01A-02W-A00K-09 TCGA-AG-A014-10A-01W-A00K-09 g.chr21:43411789T>G c.2416A>C c.(2416-2418)Acc>Ccc p.T806P SARC 21 43412114 43412114 + Silent SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 g.chr21:43412114G>T c.2091C>A c.(2089-2091)ccC>ccA p.P697P SKCM 21 43411387 43411387 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr21:43411387G>A c.2818C>T c.(2818-2820)Cac>Tac p.H940Y SKCM 21 43411399 43411399 + Missense_Mutation SNP G G A TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr21:43411399G>A c.2806C>T c.(2806-2808)Cca>Tca p.P936S SKCM 21 43411721 43411721 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr21:43411721G>A c.2484C>T c.(2482-2484)tcC>tcT p.S828S SKCM 21 43411770 43411770 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:43411770G>A c.2435C>T c.(2434-2436)cCc>cTc p.P812L SKCM 21 43412459 43412459 + Frame_Shift_Del DEL C C - TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr21:43412459delC c.1746delG c.(1744-1746)aagfs p.K582fs SKCM 21 43412681 43412681 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr21:43412681T>G c.1524A>C c.(1522-1524)gaA>gaC p.E508D SKCM 21 43412714 43412714 + Silent SNP T T C TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr21:43412714T>C c.1491A>G c.(1489-1491)ttA>ttG p.L497L SKCM 21 43412939 43412939 + Silent SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr21:43412939G>A c.1266C>T c.(1264-1266)tcC>tcT p.S422S SKCM 21 43413171 43413171 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:43413171G>A c.1034C>T c.(1033-1035)tCg>tTg p.S345L SKCM 21 43413314 43413314 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr21:43413314T>C c.891A>G c.(889-891)aaA>aaG p.K297K SKCM 21 43413584 43413584 + Silent SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr21:43413584A>G c.621T>C c.(619-621)agT>agC p.S207S SKCM 21 43413826 43413826 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr21:43413826G>A c.379C>T c.(379-381)Cca>Tca p.P127S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 21 43413810 43413810 insertion of <=200bp - T downstream_gene_variant ALL-US 21 43413810 43413810 insertion of <=200bp - T frameshift_variant R132R? ALL-US 21 43413810 43413810 insertion of <=200bp - T intron_variant AML-US 21 43412825 43412825 single base substitution C G downstream_gene_variant AML-US 21 43412825 43412825 single base substitution C G intron_variant AML-US 21 43412825 43412825 single base substitution C G synonymous_variant S460S 1380G>C BLCA-CN 21 43413771 43413771 single base substitution T A downstream_gene_variant BLCA-CN 21 43413771 43413771 single base substitution T A intron_variant BLCA-CN 21 43413771 43413771 single base substitution T A missense_variant Q145L 434A>T BLCA-CN 21 43414048 43414048 single base substitution C T downstream_gene_variant BLCA-CN 21 43414048 43414048 single base substitution C T intron_variant BLCA-CN 21 43414048 43414048 single base substitution C T missense_variant E53K 157G>A BLCA-US 21 43413477 43413477 single base substitution G A downstream_gene_variant BLCA-US 21 43413477 43413477 single base substitution G A intron_variant BLCA-US 21 43413477 43413477 single base substitution G A missense_variant S243L 728C>T BLCA-US 21 43413917 43413917 single base substitution C T downstream_gene_variant BLCA-US 21 43413917 43413917 single base substitution C T intron_variant BLCA-US 21 43413917 43413917 single base substitution C T synonymous_variant K96K 288G>A BRCA-EU 21 43403050 43403050 single base substitution G A downstream_gene_variant BRCA-EU 21 43404248 43404248 insertion of <=200bp - A downstream_gene_variant BRCA-EU 21 43406289 43406289 single base substitution C T downstream_gene_variant BRCA-EU 21 43406843 43406843 single base substitution C T downstream_gene_variant BRCA-EU 21 43407196 43407196 single base substitution C T 3_prime_UTR_variant BRCA-EU 21 43407196 43407196 single base substitution C T downstream_gene_variant BRCA-EU 21 43408971 43408971 single base substitution C G 3_prime_UTR_variant BRCA-EU 21 43408971 43408971 single base substitution C G downstream_gene_variant BRCA-EU 21 43410221 43410221 single base substitution T C 3_prime_UTR_variant BRCA-EU 21 43410221 43410221 single base substitution T C downstream_gene_variant BRCA-EU 21 43413251 43413251 single base substitution T C downstream_gene_variant BRCA-EU 21 43413251 43413251 single base substitution T C intron_variant BRCA-EU 21 43413251 43413251 single base substitution T C synonymous_variant P318P 954A>G BRCA-EU 21 43417521 43417521 single base substitution C T intron_variant BRCA-EU 21 43417596 43417596 single base substitution A G intron_variant BRCA-EU 21 43420049 43420049 single base substitution A C intron_variant BRCA-EU 21 43420136 43420136 single base substitution C A intron_variant BRCA-EU 21 43420285 43420285 single base substitution A C intron_variant BRCA-EU 21 43421173 43421173 single base substitution G A intron_variant BRCA-EU 21 43421416 43421416 single base substitution C A intron_variant BRCA-EU 21 43423583 43423583 single base substitution G C intron_variant BRCA-EU 21 43424886 43424886 single base substitution T G intron_variant BRCA-EU 21 43425979 43425979 single base substitution G C intron_variant BRCA-EU 21 43427836 43427836 single base substitution T G intron_variant BRCA-EU 21 43428036 43428036 single base substitution C G 5_prime_UTR_variant BRCA-EU 21 43428036 43428036 single base substitution C G intron_variant BRCA-EU 21 43428152 43428152 single base substitution C T 5_prime_UTR_variant BRCA-EU 21 43428152 43428152 single base substitution C T intron_variant BRCA-EU 21 43430105 43430105 single base substitution G C intron_variant BRCA-EU 21 43430105 43430105 single base substitution G C upstream_gene_variant BRCA-EU 21 43432929 43432929 single base substitution C T upstream_gene_variant BRCA-EU 21 43433591 43433591 single base substitution C G upstream_gene_variant BRCA-EU 21 43435220 43435220 single base substitution G A upstream_gene_variant BRCA-FR 21 43423583 43423583 single base substitution G C intron_variant BRCA-FR 21 43430096 43430096 single base substitution C G intron_variant BRCA-FR 21 43430096 43430096 single base substitution C G upstream_gene_variant BRCA-KR 21 43413999 43413999 single base substitution A G downstream_gene_variant BRCA-KR 21 43413999 43413999 single base substitution A G intron_variant BRCA-KR 21 43413999 43413999 single base substitution A G missense_variant V69A 206T>C BRCA-US 21 43411588 43411588 single base substitution G A downstream_gene_variant BRCA-US 21 43411588 43411588 single base substitution G A exon_variant BRCA-US 21 43411588 43411588 single base substitution G A stop_gained Q672* 2014C>T BRCA-US 21 43411588 43411588 single base substitution G A stop_gained Q873* 2617C>T BRCA-US 21 43414183 43414183 deletion of <=200bp T - frameshift_variant I8 BRCA-US 21 43414183 43414183 deletion of <=200bp T - intron_variant BRCA-US 21 43429588 43429588 single base substitution G A 5_prime_UTR_variant BRCA-US 21 43429588 43429588 single base substitution G A intron_variant BRCA-US 21 43429588 43429588 single base substitution G A upstream_gene_variant BTCA-JP 21 43413171 43413171 single base substitution G A downstream_gene_variant BTCA-JP 21 43413171 43413171 single base substitution G A intron_variant BTCA-JP 21 43413171 43413171 single base substitution G A missense_variant S345L 1034C>T CESC-US 21 43411540 43411540 single base substitution C T downstream_gene_variant CESC-US 21 43411540 43411540 single base substitution C T exon_variant CESC-US 21 43411540 43411540 single base substitution C T missense_variant E688K 2062G>A CESC-US 21 43411540 43411540 single base substitution C T missense_variant E889K 2665G>A CESC-US 21 43412056 43412056 single base substitution C G downstream_gene_variant CESC-US 21 43412056 43412056 single base substitution C G intron_variant CESC-US 21 43412056 43412056 single base substitution C G missense_variant E717Q 2149G>C CESC-US 21 43412124 43412124 single base substitution C G downstream_gene_variant CESC-US 21 43412124 43412124 single base substitution C G intron_variant CESC-US 21 43412124 43412124 single base substitution C G missense_variant G694A 2081G>C CESC-US 21 43412671 43412671 single base substitution C G downstream_gene_variant CESC-US 21 43412671 43412671 single base substitution C G intron_variant CESC-US 21 43412671 43412671 single base substitution C G missense_variant E512Q 1534G>C CLLE-ES 21 43418713 43418713 single base substitution G A intron_variant CLLE-ES 21 43427022 43427022 single base substitution C T intron_variant COAD-US 21 43411549 43411551 deletion of <=200bp CCT - disruptive_inframe_deletion EA684A COAD-US 21 43411549 43411551 deletion of <=200bp CCT - disruptive_inframe_deletion EA885A COAD-US 21 43411549 43411551 deletion of <=200bp CCT - downstream_gene_variant COAD-US 21 43411549 43411551 deletion of <=200bp CCT - exon_variant COAD-US 21 43411860 43411860 single base substitution C T downstream_gene_variant COAD-US 21 43411860 43411860 single base substitution C T exon_variant COAD-US 21 43411860 43411860 single base substitution C T missense_variant R581H 1742G>A COAD-US 21 43411860 43411860 single base substitution C T missense_variant R782H 2345G>A COAD-US 21 43411967 43411967 single base substitution G A downstream_gene_variant COAD-US 21 43411967 43411967 single base substitution G A exon_variant COAD-US 21 43411967 43411967 single base substitution G A synonymous_variant N545N 1635C>T COAD-US 21 43411967 43411967 single base substitution G A synonymous_variant N746N 2238C>T COAD-US 21 43413553 43413553 single base substitution T G downstream_gene_variant COAD-US 21 43413553 43413553 single base substitution T G intron_variant COAD-US 21 43413553 43413553 single base substitution T G missense_variant K218Q 652A>C COAD-US 21 43413719 43413719 single base substitution A C downstream_gene_variant COAD-US 21 43413719 43413719 single base substitution A C intron_variant COAD-US 21 43413719 43413719 single base substitution A C synonymous_variant T162T 486T>G COAD-US 21 43414059 43414059 single base substitution G A intron_variant COAD-US 21 43414059 43414059 single base substitution G A missense_variant A49V 146C>T COCA-CN 21 43412033 43412033 single base substitution G A downstream_gene_variant COCA-CN 21 43412033 43412033 single base substitution G A intron_variant COCA-CN 21 43412033 43412033 single base substitution G A synonymous_variant C724C 2172C>T COCA-CN 21 43412872 43412872 single base substitution G A downstream_gene_variant COCA-CN 21 43412872 43412872 single base substitution G A intron_variant COCA-CN 21 43412872 43412872 single base substitution G A missense_variant R445C 1333C>T EOPC-DE 21 43431829 43431829 single base substitution T C upstream_gene_variant ESAD-UK 21 43414934 43414934 single base substitution G A intron_variant ESAD-UK 21 43420638 43420638 single base substitution C G intron_variant ESAD-UK 21 43420676 43420676 single base substitution C A intron_variant ESAD-UK 21 43425760 43425760 single base substitution A T intron_variant ESAD-UK 21 43429714 43429714 deletion of <=200bp A - intron_variant ESAD-UK 21 43429714 43429714 deletion of <=200bp A - splice_region_variant ESAD-UK 21 43429714 43429714 deletion of <=200bp A - upstream_gene_variant ESAD-UK 21 43432150 43432151 deletion of <=200bp CA - upstream_gene_variant ESAD-UK 21 43435191 43435191 single base substitution C T upstream_gene_variant ESCA-CN 21 43411214 43411214 single base substitution C G downstream_gene_variant ESCA-CN 21 43411214 43411214 single base substitution C G missense_variant Q796H 2388G>C ESCA-CN 21 43411214 43411214 single base substitution C G missense_variant Q997H 2991G>C GBM-US 21 43411960 43411960 single base substitution C T downstream_gene_variant GBM-US 21 43411960 43411960 single base substitution C T exon_variant GBM-US 21 43411960 43411960 single base substitution C T missense_variant V548I 1642G>A GBM-US 21 43411960 43411960 single base substitution C T missense_variant V749I 2245G>A KIRC-US 21 43411090 43411098 deletion of <=200bp ATGTGATTG - disruptive_inframe_deletion AITF1036V KIRC-US 21 43411090 43411098 deletion of <=200bp ATGTGATTG - disruptive_inframe_deletion AITF835V KIRC-US 21 43411090 43411098 deletion of <=200bp ATGTGATTG - downstream_gene_variant KIRC-US 21 43412175 43412175 single base substitution T A downstream_gene_variant KIRC-US 21 43412175 43412175 single base substitution T A intron_variant KIRC-US 21 43412175 43412175 single base substitution T A missense_variant K677I 2030A>T KIRC-US 21 43412479 43412479 single base substitution C G downstream_gene_variant KIRC-US 21 43412479 43412479 single base substitution C G intron_variant KIRC-US 21 43412479 43412479 single base substitution C G missense_variant A576P 1726G>C KIRC-US 21 43413025 43413025 single base substitution C T downstream_gene_variant KIRC-US 21 43413025 43413025 single base substitution C T intron_variant KIRC-US 21 43413025 43413025 single base substitution C T missense_variant A394T 1180G>A KIRP-US 21 43412280 43412280 single base substitution C T downstream_gene_variant KIRP-US 21 43412280 43412280 single base substitution C T intron_variant KIRP-US 21 43412280 43412280 single base substitution C T missense_variant G642D 1925G>A KIRP-US 21 43413770 43413770 single base substitution T C downstream_gene_variant KIRP-US 21 43413770 43413770 single base substitution T C intron_variant KIRP-US 21 43413770 43413770 single base substitution T C synonymous_variant Q145Q 435A>G LAML-KR 21 43413553 43413553 single base substitution T G downstream_gene_variant LAML-KR 21 43413553 43413553 single base substitution T G intron_variant LAML-KR 21 43413553 43413553 single base substitution T G missense_variant K218Q 652A>C LAML-KR 21 43413651 43413651 single base substitution T C downstream_gene_variant LAML-KR 21 43413651 43413651 single base substitution T C intron_variant LAML-KR 21 43413651 43413651 single base substitution T C missense_variant N185S 554A>G LGG-US 21 43411483 43411483 single base substitution G A downstream_gene_variant LGG-US 21 43411483 43411483 single base substitution G A synonymous_variant L707L 2119C>T LGG-US 21 43411483 43411483 single base substitution G A synonymous_variant L908L 2722C>T LGG-US 21 43411516 43411516 single base substitution G A downstream_gene_variant LGG-US 21 43411516 43411516 single base substitution G A exon_variant LGG-US 21 43411516 43411516 single base substitution G A missense_variant P696S 2086C>T LGG-US 21 43411516 43411516 single base substitution G A missense_variant P897S 2689C>T LGG-US 21 43413378 43413378 single base substitution C T downstream_gene_variant LGG-US 21 43413378 43413378 single base substitution C T intron_variant LGG-US 21 43413378 43413378 single base substitution C T missense_variant R276Q 827G>A LICA-FR 21 43414035 43414035 single base substitution C A downstream_gene_variant LICA-FR 21 43414035 43414035 single base substitution C A intron_variant LICA-FR 21 43414035 43414035 single base substitution C A missense_variant S57I 170G>T LICA-FR 21 43432894 43432894 single base substitution G A upstream_gene_variant LINC-JP 21 43410723 43410723 single base substitution G T 3_prime_UTR_variant LINC-JP 21 43410723 43410723 single base substitution G T downstream_gene_variant LINC-JP 21 43411397 43411397 single base substitution T C downstream_gene_variant LINC-JP 21 43411397 43411397 single base substitution T C synonymous_variant P735P 2205A>G LINC-JP 21 43411397 43411397 single base substitution T C synonymous_variant P936P 2808A>G LINC-JP 21 43412128 43412128 single base substitution G A downstream_gene_variant LINC-JP 21 43412128 43412128 single base substitution G A intron_variant LINC-JP 21 43412128 43412128 single base substitution G A missense_variant P693S 2077C>T LINC-JP 21 43412735 43412735 single base substitution T A downstream_gene_variant LINC-JP 21 43412735 43412735 single base substitution T A intron_variant LINC-JP 21 43412735 43412735 single base substitution T A synonymous_variant R490R 1470A>T LINC-JP 21 43413180 43413180 single base substitution C A downstream_gene_variant LINC-JP 21 43413180 43413180 single base substitution C A intron_variant LINC-JP 21 43413180 43413180 single base substitution C A missense_variant R342L 1025G>T LINC-JP 21 43416768 43416768 single base substitution T C intron_variant LIRI-JP 21 43404078 43404078 single base substitution G C downstream_gene_variant LIRI-JP 21 43404814 43404814 single base substitution T C downstream_gene_variant LIRI-JP 21 43407194 43407195 deletion of <=200bp TT - 3_prime_UTR_variant LIRI-JP 21 43407194 43407195 deletion of <=200bp TT - downstream_gene_variant LIRI-JP 21 43408359 43408368 deletion of <=200bp TTAAAACATT - 3_prime_UTR_variant LIRI-JP 21 43408359 43408368 deletion of <=200bp TTAAAACATT - downstream_gene_variant LIRI-JP 21 43409703 43409703 single base substitution T C 3_prime_UTR_variant LIRI-JP 21 43409703 43409703 single base substitution T C downstream_gene_variant LIRI-JP 21 43409712 43409712 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 21 43409712 43409712 deletion of <=200bp T - downstream_gene_variant LIRI-JP 21 43410283 43410283 single base substitution G C 3_prime_UTR_variant LIRI-JP 21 43410283 43410283 single base substitution G C downstream_gene_variant LIRI-JP 21 43411556 43411556 single base substitution C A downstream_gene_variant LIRI-JP 21 43411556 43411556 single base substitution C A exon_variant LIRI-JP 21 43411556 43411556 single base substitution C A synonymous_variant V682V 2046G>T LIRI-JP 21 43411556 43411556 single base substitution C A synonymous_variant V883V 2649G>T LIRI-JP 21 43412070 43412070 single base substitution A G downstream_gene_variant LIRI-JP 21 43412070 43412070 single base substitution A G intron_variant LIRI-JP 21 43412070 43412070 single base substitution A G missense_variant L712P 2135T>C LIRI-JP 21 43414153 43414153 single base substitution T G intron_variant LIRI-JP 21 43414153 43414153 single base substitution T G missense_variant S18R 52A>C LIRI-JP 21 43415158 43415158 single base substitution G A intron_variant LIRI-JP 21 43415522 43415522 single base substitution T C intron_variant LIRI-JP 21 43416836 43416836 single base substitution G T intron_variant LIRI-JP 21 43422286 43422286 single base substitution G A intron_variant LIRI-JP 21 43422341 43422341 single base substitution T C intron_variant LIRI-JP 21 43422703 43422703 single base substitution C A intron_variant LIRI-JP 21 43426270 43426270 single base substitution T C intron_variant LIRI-JP 21 43427856 43427856 single base substitution A C intron_variant LIRI-JP 21 43432003 43432003 single base substitution A G upstream_gene_variant LIRI-JP 21 43432700 43432700 single base substitution G A upstream_gene_variant LUSC-KR 21 43402758 43402758 single base substitution G C downstream_gene_variant LUSC-KR 21 43408035 43408035 single base substitution C A 3_prime_UTR_variant LUSC-KR 21 43408035 43408035 single base substitution C A downstream_gene_variant LUSC-KR 21 43408618 43408618 single base substitution T A 3_prime_UTR_variant LUSC-KR 21 43408618 43408618 single base substitution T A downstream_gene_variant LUSC-KR 21 43408914 43408914 single base substitution C A 3_prime_UTR_variant LUSC-KR 21 43408914 43408914 single base substitution C A downstream_gene_variant LUSC-KR 21 43417783 43417783 single base substitution C T intron_variant LUSC-KR 21 43417897 43417897 single base substitution C G intron_variant LUSC-KR 21 43418417 43418417 single base substitution C G intron_variant LUSC-KR 21 43421353 43421353 single base substitution G A intron_variant LUSC-KR 21 43422378 43422378 single base substitution T C intron_variant LUSC-KR 21 43423214 43423214 single base substitution T C intron_variant LUSC-KR 21 43427785 43427785 single base substitution G A intron_variant LUSC-KR 21 43431662 43431662 single base substitution G C upstream_gene_variant LUSC-KR 21 43432540 43432540 single base substitution T C upstream_gene_variant LUSC-US 21 43411868 43411868 single base substitution C A downstream_gene_variant LUSC-US 21 43411868 43411868 single base substitution C A exon_variant LUSC-US 21 43411868 43411868 single base substitution C A missense_variant E578D 1734G>T LUSC-US 21 43411868 43411868 single base substitution C A missense_variant E779D 2337G>T LUSC-US 21 43411872 43411872 single base substitution A C downstream_gene_variant LUSC-US 21 43411872 43411872 single base substitution A C exon_variant LUSC-US 21 43411872 43411872 single base substitution A C missense_variant L577R 1730T>G LUSC-US 21 43411872 43411872 single base substitution A C missense_variant L778R 2333T>G LUSC-US 21 43412128 43412128 single base substitution G A downstream_gene_variant LUSC-US 21 43412128 43412128 single base substitution G A intron_variant LUSC-US 21 43412128 43412128 single base substitution G A missense_variant P693S 2077C>T LUSC-US 21 43412303 43412303 single base substitution G T downstream_gene_variant LUSC-US 21 43412303 43412303 single base substitution G T intron_variant LUSC-US 21 43412303 43412303 single base substitution G T synonymous_variant A634A 1902C>A MALY-DE 21 43419702 43419702 single base substitution G T intron_variant MALY-DE 21 43422647 43422647 single base substitution C T 5_prime_UTR_variant MALY-DE 21 43422647 43422647 single base substitution C T intron_variant MALY-DE 21 43423778 43423778 single base substitution C T intron_variant MELA-AU 21 43402418 43402418 single base substitution T A downstream_gene_variant MELA-AU 21 43402779 43402779 single base substitution G A downstream_gene_variant MELA-AU 21 43402792 43402792 single base substitution G A downstream_gene_variant MELA-AU 21 43403093 43403093 single base substitution C T downstream_gene_variant MELA-AU 21 43403783 43403783 single base substitution A G downstream_gene_variant MELA-AU 21 43404507 43404507 single base substitution G A downstream_gene_variant MELA-AU 21 43404521 43404521 single base substitution G A downstream_gene_variant MELA-AU 21 43405006 43405006 single base substitution G A downstream_gene_variant MELA-AU 21 43405285 43405285 single base substitution C T downstream_gene_variant MELA-AU 21 43406949 43406949 single base substitution A C 3_prime_UTR_variant MELA-AU 21 43406949 43406949 single base substitution A C downstream_gene_variant MELA-AU 21 43407364 43407364 single base substitution G A 3_prime_UTR_variant MELA-AU 21 43407364 43407364 single base substitution G A downstream_gene_variant MELA-AU 21 43407578 43407578 deletion of <=200bp A - 3_prime_UTR_variant MELA-AU 21 43407578 43407578 deletion of <=200bp A - downstream_gene_variant MELA-AU 21 43409541 43409541 single base substitution C T 3_prime_UTR_variant MELA-AU 21 43409541 43409541 single base substitution C T downstream_gene_variant MELA-AU 21 43409669 43409669 single base substitution G A 3_prime_UTR_variant MELA-AU 21 43409669 43409669 single base substitution G A downstream_gene_variant MELA-AU 21 43411305 43411305 single base substitution G A downstream_gene_variant MELA-AU 21 43411305 43411305 single base substitution G A missense_variant S766L 2297C>T MELA-AU 21 43411305 43411305 single base substitution G A missense_variant S967L 2900C>T MELA-AU 21 43411366 43411366 single base substitution G A downstream_gene_variant MELA-AU 21 43411366 43411366 single base substitution G A missense_variant R746C 2236C>T MELA-AU 21 43411366 43411366 single base substitution G A missense_variant R947C 2839C>T MELA-AU 21 43411595 43411595 single base substitution A G downstream_gene_variant MELA-AU 21 43411595 43411595 single base substitution A G exon_variant MELA-AU 21 43411595 43411595 single base substitution A G synonymous_variant L669L 2007T>C MELA-AU 21 43411595 43411595 single base substitution A G synonymous_variant L870L 2610T>C MELA-AU 21 43411764 43411764 single base substitution A G downstream_gene_variant MELA-AU 21 43411764 43411764 single base substitution A G exon_variant MELA-AU 21 43411764 43411764 single base substitution A G missense_variant L613S 1838T>C MELA-AU 21 43411764 43411764 single base substitution A G missense_variant L814S 2441T>C MELA-AU 21 43411961 43411961 single base substitution G A downstream_gene_variant MELA-AU 21 43411961 43411961 single base substitution G A exon_variant MELA-AU 21 43411961 43411961 single base substitution G A synonymous_variant A547A 1641C>T MELA-AU 21 43411961 43411961 single base substitution G A synonymous_variant A748A 2244C>T MELA-AU 21 43412351 43412351 single base substitution G A downstream_gene_variant MELA-AU 21 43412351 43412351 single base substitution G A intron_variant MELA-AU 21 43412351 43412351 single base substitution G A synonymous_variant F618F 1854C>T MELA-AU 21 43412649 43412649 single base substitution A T downstream_gene_variant MELA-AU 21 43412649 43412649 single base substitution A T intron_variant MELA-AU 21 43412649 43412649 single base substitution A T missense_variant L519H 1556T>A MELA-AU 21 43413675 43413675 single base substitution G A downstream_gene_variant MELA-AU 21 43413675 43413675 single base substitution G A intron_variant MELA-AU 21 43413675 43413675 single base substitution G A missense_variant S177F 530C>T MELA-AU 21 43413870 43413870 single base substitution G A downstream_gene_variant MELA-AU 21 43413870 43413870 single base substitution G A intron_variant MELA-AU 21 43413870 43413870 single base substitution G A missense_variant S112F 335C>T MELA-AU 21 43414082 43414082 single base substitution G A intron_variant MELA-AU 21 43414082 43414082 single base substitution G A synonymous_variant F41F 123C>T MELA-AU 21 43414201 43414202 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 43414201 43414202 multiple base substitution (>=2bp and <=200bp) CC TT start_lost ME1IK MELA-AU 21 43414970 43414970 single base substitution G A intron_variant MELA-AU 21 43415137 43415137 single base substitution G A intron_variant MELA-AU 21 43415248 43415248 single base substitution G A intron_variant MELA-AU 21 43415670 43415670 single base substitution A T intron_variant MELA-AU 21 43415806 43415806 single base substitution T C intron_variant MELA-AU 21 43415869 43415869 single base substitution G A intron_variant MELA-AU 21 43415870 43415870 single base substitution G A intron_variant MELA-AU 21 43416174 43416174 single base substitution G A intron_variant MELA-AU 21 43416213 43416213 single base substitution G A intron_variant MELA-AU 21 43416220 43416220 single base substitution G A intron_variant MELA-AU 21 43416676 43416676 single base substitution G A intron_variant MELA-AU 21 43417341 43417341 single base substitution T C intron_variant MELA-AU 21 43417497 43417497 single base substitution C A intron_variant MELA-AU 21 43417659 43417659 single base substitution T C intron_variant MELA-AU 21 43418392 43418392 single base substitution C T intron_variant MELA-AU 21 43419257 43419257 single base substitution C T intron_variant MELA-AU 21 43419862 43419862 single base substitution G A intron_variant MELA-AU 21 43419884 43419884 single base substitution G A intron_variant MELA-AU 21 43419993 43419993 single base substitution G A intron_variant MELA-AU 21 43420124 43420124 single base substitution C T intron_variant MELA-AU 21 43421080 43421080 single base substitution A C intron_variant MELA-AU 21 43421311 43421311 single base substitution A G intron_variant MELA-AU 21 43421738 43421738 single base substitution G A intron_variant MELA-AU 21 43421753 43421753 single base substitution T C intron_variant MELA-AU 21 43422504 43422504 single base substitution G C 5_prime_UTR_variant MELA-AU 21 43422504 43422504 single base substitution G C intron_variant MELA-AU 21 43425170 43425170 single base substitution G A intron_variant MELA-AU 21 43425171 43425171 single base substitution G A intron_variant MELA-AU 21 43425214 43425214 single base substitution G A intron_variant MELA-AU 21 43425447 43425447 single base substitution A C intron_variant MELA-AU 21 43426374 43426374 single base substitution A G intron_variant MELA-AU 21 43426547 43426547 single base substitution A T intron_variant MELA-AU 21 43427298 43427298 single base substitution G A intron_variant MELA-AU 21 43428894 43428894 single base substitution G A intron_variant MELA-AU 21 43428894 43428894 single base substitution G A upstream_gene_variant MELA-AU 21 43429101 43429101 single base substitution C T intron_variant MELA-AU 21 43429101 43429101 single base substitution C T upstream_gene_variant MELA-AU 21 43429185 43429185 single base substitution T C intron_variant MELA-AU 21 43429185 43429185 single base substitution T C upstream_gene_variant MELA-AU 21 43430216 43430216 single base substitution G A intron_variant MELA-AU 21 43430216 43430216 single base substitution G A upstream_gene_variant MELA-AU 21 43432315 43432315 single base substitution C T upstream_gene_variant MELA-AU 21 43432390 43432390 single base substitution C T upstream_gene_variant MELA-AU 21 43432788 43432788 single base substitution C T upstream_gene_variant MELA-AU 21 43433211 43433211 single base substitution C T upstream_gene_variant MELA-AU 21 43434692 43434692 single base substitution T G upstream_gene_variant MELA-AU 21 43434817 43434817 single base substitution G T upstream_gene_variant MELA-AU 21 43434864 43434864 single base substitution G A upstream_gene_variant MELA-AU 21 43435197 43435197 single base substitution C T upstream_gene_variant ORCA-IN 21 43412904 43412904 single base substitution C A downstream_gene_variant ORCA-IN 21 43412904 43412904 single base substitution C A intron_variant ORCA-IN 21 43412904 43412904 single base substitution C A missense_variant S434I 1301G>T OV-AU 21 43401987 43401987 single base substitution T C downstream_gene_variant OV-AU 21 43403268 43403268 single base substitution C A downstream_gene_variant OV-AU 21 43406238 43406238 single base substitution T A downstream_gene_variant OV-AU 21 43415350 43415350 single base substitution G C intron_variant OV-AU 21 43418375 43418375 single base substitution C T intron_variant OV-AU 21 43421344 43421344 single base substitution C T intron_variant OV-US 21 43411450 43411450 single base substitution T G downstream_gene_variant OV-US 21 43411450 43411450 single base substitution T G missense_variant T718P 2152A>C OV-US 21 43411450 43411450 single base substitution T G missense_variant T919P 2755A>C PACA-AU 21 43403168 43403168 single base substitution T G downstream_gene_variant PACA-AU 21 43405916 43405916 single base substitution A C downstream_gene_variant PACA-AU 21 43417742 43417742 single base substitution A G intron_variant PACA-AU 21 43419171 43419171 single base substitution C T intron_variant PACA-AU 21 43420796 43420796 single base substitution A C intron_variant PACA-AU 21 43422377 43422377 single base substitution C A intron_variant PACA-AU 21 43424679 43424679 single base substitution G A intron_variant PACA-AU 21 43427950 43427950 single base substitution T G 5_prime_UTR_variant PACA-AU 21 43427950 43427950 single base substitution T G intron_variant PACA-AU 21 43432514 43432514 single base substitution C G upstream_gene_variant PACA-AU 21 43434576 43434576 single base substitution A T upstream_gene_variant PACA-AU 21 43435303 43435303 single base substitution T G upstream_gene_variant PACA-CA 21 43404081 43404081 deletion of <=200bp T - downstream_gene_variant PACA-CA 21 43404107 43404107 single base substitution A T downstream_gene_variant PACA-CA 21 43405853 43405853 single base substitution G A downstream_gene_variant PACA-CA 21 43410240 43410240 single base substitution G A 3_prime_UTR_variant PACA-CA 21 43410240 43410240 single base substitution G A downstream_gene_variant PACA-CA 21 43413105 43413105 single base substitution G A downstream_gene_variant PACA-CA 21 43413105 43413105 single base substitution G A intron_variant PACA-CA 21 43413105 43413105 single base substitution G A missense_variant S367L 1100C>T PACA-CA 21 43418551 43418551 single base substitution C T intron_variant PACA-CA 21 43426554 43426554 single base substitution T A intron_variant PACA-CA 21 43426815 43426815 single base substitution G A intron_variant PACA-CA 21 43429113 43429113 single base substitution G C intron_variant PACA-CA 21 43429113 43429113 single base substitution G C upstream_gene_variant PACA-CA 21 43430592 43430592 single base substitution G A upstream_gene_variant PACA-CA 21 43431998 43431998 single base substitution G C upstream_gene_variant PACA-CA 21 43434809 43434809 single base substitution C T upstream_gene_variant PACA-CA 21 43435459 43435459 single base substitution G T upstream_gene_variant PAEN-AU 21 43425355 43425355 single base substitution G T intron_variant PAEN-IT 21 43414196 43414196 single base substitution T G intron_variant PAEN-IT 21 43414196 43414196 single base substitution T G synonymous_variant G3G 9A>C PBCA-DE 21 43402416 43402416 insertion of <=200bp - T downstream_gene_variant PBCA-DE 21 43403954 43403954 deletion of <=200bp T - downstream_gene_variant PBCA-DE 21 43407310 43407310 insertion of <=200bp - G 3_prime_UTR_variant PBCA-DE 21 43407310 43407310 insertion of <=200bp - G downstream_gene_variant PBCA-DE 21 43411676 43411676 single base substitution G A downstream_gene_variant PBCA-DE 21 43411676 43411676 single base substitution G A exon_variant PBCA-DE 21 43411676 43411676 single base substitution G A synonymous_variant D642D 1926C>T PBCA-DE 21 43411676 43411676 single base substitution G A synonymous_variant D843D 2529C>T PBCA-DE 21 43426520 43426520 single base substitution A T intron_variant PBCA-DE 21 43430999 43430999 single base substitution G T upstream_gene_variant PBCA-DE 21 43433147 43433147 single base substitution C T upstream_gene_variant PBCA-DE 21 43434172 43434172 single base substitution T C upstream_gene_variant PRAD-UK 21 43418619 43418619 single base substitution T C intron_variant PRAD-UK 21 43420368 43420368 single base substitution G A intron_variant PRAD-US 21 43412180 43412180 single base substitution G A downstream_gene_variant PRAD-US 21 43412180 43412180 single base substitution G A intron_variant PRAD-US 21 43412180 43412180 single base substitution G A synonymous_variant C675C 2025C>T READ-US 21 43411776 43411776 single base substitution G T downstream_gene_variant READ-US 21 43411776 43411776 single base substitution G T exon_variant READ-US 21 43411776 43411776 single base substitution G T missense_variant S609Y 1826C>A READ-US 21 43411776 43411776 single base substitution G T missense_variant S810Y 2429C>A READ-US 21 43412608 43412608 single base substitution C T downstream_gene_variant READ-US 21 43412608 43412608 single base substitution C T intron_variant READ-US 21 43412608 43412608 single base substitution C T missense_variant E533K 1597G>A READ-US 21 43413610 43413610 single base substitution G T downstream_gene_variant READ-US 21 43413610 43413610 single base substitution G T intron_variant READ-US 21 43413610 43413610 single base substitution G T missense_variant H199N 595C>A READ-US 21 43414161 43414161 single base substitution G T intron_variant READ-US 21 43414161 43414161 single base substitution G T missense_variant S15Y 44C>A RECA-EU 21 43410752 43410752 single base substitution C T 3_prime_UTR_variant RECA-EU 21 43410752 43410752 single base substitution C T downstream_gene_variant RECA-EU 21 43427278 43427278 single base substitution T G intron_variant SKCA-BR 21 43404648 43404648 single base substitution T G downstream_gene_variant SKCA-BR 21 43405916 43405916 single base substitution A C downstream_gene_variant SKCA-BR 21 43406898 43406898 single base substitution C T downstream_gene_variant SKCA-BR 21 43407037 43407037 single base substitution G A 3_prime_UTR_variant SKCA-BR 21 43407037 43407037 single base substitution G A downstream_gene_variant SKCA-BR 21 43411878 43411878 single base substitution G A downstream_gene_variant SKCA-BR 21 43411878 43411878 single base substitution G A exon_variant SKCA-BR 21 43411878 43411878 single base substitution G A missense_variant T575I 1724C>T SKCA-BR 21 43411878 43411878 single base substitution G A missense_variant T776I 2327C>T SKCA-BR 21 43415044 43415044 single base substitution C T intron_variant SKCA-BR 21 43416072 43416072 single base substitution G A intron_variant SKCA-BR 21 43424709 43424709 single base substitution C T intron_variant SKCA-BR 21 43425296 43425296 single base substitution T C intron_variant SKCA-BR 21 43425880 43425880 single base substitution G A intron_variant SKCA-BR 21 43426370 43426370 single base substitution G A intron_variant SKCA-BR 21 43426870 43426870 single base substitution G C intron_variant SKCA-BR 21 43428675 43428680 deletion of <=200bp AAAAAG - intron_variant SKCA-BR 21 43428675 43428680 deletion of <=200bp AAAAAG - upstream_gene_variant SKCA-BR 21 43429325 43429325 single base substitution A C intron_variant SKCA-BR 21 43429325 43429325 single base substitution A C upstream_gene_variant SKCA-BR 21 43430591 43430591 single base substitution A G upstream_gene_variant SKCA-BR 21 43434314 43434314 single base substitution G T upstream_gene_variant SKCA-BR 21 43435410 43435410 single base substitution A T upstream_gene_variant SKCM-US 21 43411272 43411272 single base substitution G A downstream_gene_variant SKCM-US 21 43411272 43411272 single base substitution G A missense_variant P777L 2330C>T SKCM-US 21 43411272 43411272 single base substitution G A missense_variant P978L 2933C>T SKCM-US 21 43411387 43411387 single base substitution G A downstream_gene_variant SKCM-US 21 43411387 43411387 single base substitution G A missense_variant H739Y 2215C>T SKCM-US 21 43411387 43411387 single base substitution G A missense_variant H940Y 2818C>T SKCM-US 21 43411620 43411620 single base substitution G A downstream_gene_variant SKCM-US 21 43411620 43411620 single base substitution G A exon_variant SKCM-US 21 43411620 43411620 single base substitution G A missense_variant S661F 1982C>T SKCM-US 21 43411620 43411620 single base substitution G A missense_variant S862F 2585C>T SKCM-US 21 43411721 43411721 single base substitution G A downstream_gene_variant SKCM-US 21 43411721 43411721 single base substitution G A exon_variant SKCM-US 21 43411721 43411721 single base substitution G A synonymous_variant S627S 1881C>T SKCM-US 21 43411721 43411721 single base substitution G A synonymous_variant S828S 2484C>T SKCM-US 21 43411770 43411770 single base substitution G A downstream_gene_variant SKCM-US 21 43411770 43411770 single base substitution G A exon_variant SKCM-US 21 43411770 43411770 single base substitution G A missense_variant P611L 1832C>T SKCM-US 21 43411770 43411770 single base substitution G A missense_variant P812L 2435C>T SKCM-US 21 43412459 43412459 deletion of <=200bp C - downstream_gene_variant SKCM-US 21 43412459 43412459 deletion of <=200bp C - frameshift_variant K582 SKCM-US 21 43412459 43412459 deletion of <=200bp C - intron_variant SKCM-US 21 43412681 43412681 single base substitution T G downstream_gene_variant SKCM-US 21 43412681 43412681 single base substitution T G intron_variant SKCM-US 21 43412681 43412681 single base substitution T G missense_variant E508D 1524A>C SKCM-US 21 43412714 43412714 single base substitution T C downstream_gene_variant SKCM-US 21 43412714 43412714 single base substitution T C intron_variant SKCM-US 21 43412714 43412714 single base substitution T C synonymous_variant L497L 1491A>G SKCM-US 21 43412939 43412939 single base substitution G A downstream_gene_variant SKCM-US 21 43412939 43412939 single base substitution G A intron_variant SKCM-US 21 43412939 43412939 single base substitution G A synonymous_variant S422S 1266C>T SKCM-US 21 43413171 43413171 single base substitution G A downstream_gene_variant SKCM-US 21 43413171 43413171 single base substitution G A intron_variant SKCM-US 21 43413171 43413171 single base substitution G A missense_variant S345L 1034C>T SKCM-US 21 43413584 43413584 single base substitution A G downstream_gene_variant SKCM-US 21 43413584 43413584 single base substitution A G intron_variant SKCM-US 21 43413584 43413584 single base substitution A G synonymous_variant S207S 621T>C SKCM-US 21 43413826 43413826 single base substitution G A downstream_gene_variant SKCM-US 21 43413826 43413826 single base substitution G A intron_variant SKCM-US 21 43413826 43413826 single base substitution G A missense_variant P127S 379C>T STAD-US 21 43411084 43411084 deletion of <=200bp T - downstream_gene_variant STAD-US 21 43411084 43411084 deletion of <=200bp T - frameshift_variant R1041 STAD-US 21 43411084 43411084 deletion of <=200bp T - frameshift_variant R840 STAD-US 21 43411221 43411221 single base substitution T C downstream_gene_variant STAD-US 21 43411221 43411221 single base substitution T C missense_variant K794R 2381A>G STAD-US 21 43411221 43411221 single base substitution T C missense_variant K995R 2984A>G STAD-US 21 43411449 43411449 single base substitution G A downstream_gene_variant STAD-US 21 43411449 43411449 single base substitution G A missense_variant T718M 2153C>T STAD-US 21 43411449 43411449 single base substitution G A missense_variant T919M 2756C>T STAD-US 21 43411514 43411514 deletion of <=200bp G - downstream_gene_variant STAD-US 21 43411514 43411514 deletion of <=200bp G - frameshift_variant P696 STAD-US 21 43411514 43411514 deletion of <=200bp G - frameshift_variant P897 STAD-US 21 43411609 43411609 single base substitution C T downstream_gene_variant STAD-US 21 43411609 43411609 single base substitution C T exon_variant STAD-US 21 43411609 43411609 single base substitution C T missense_variant E665K 1993G>A STAD-US 21 43411609 43411609 single base substitution C T missense_variant E866K 2596G>A STAD-US 21 43411690 43411690 single base substitution C T downstream_gene_variant STAD-US 21 43411690 43411690 single base substitution C T exon_variant STAD-US 21 43411690 43411690 single base substitution C T missense_variant V638I 1912G>A STAD-US 21 43411690 43411690 single base substitution C T missense_variant V839I 2515G>A STAD-US 21 43411786 43411786 single base substitution C T downstream_gene_variant STAD-US 21 43411786 43411786 single base substitution C T exon_variant STAD-US 21 43411786 43411786 single base substitution C T missense_variant E606K 1816G>A STAD-US 21 43411786 43411786 single base substitution C T missense_variant E807K 2419G>A STAD-US 21 43411985 43411985 single base substitution G A downstream_gene_variant STAD-US 21 43411985 43411985 single base substitution G A exon_variant STAD-US 21 43411985 43411985 single base substitution G A synonymous_variant H539H 1617C>T STAD-US 21 43411985 43411985 single base substitution G A synonymous_variant H740H 2220C>T STAD-US 21 43412000 43412000 single base substitution T C downstream_gene_variant STAD-US 21 43412000 43412000 single base substitution T C splice_acceptor_variant STAD-US 21 43412000 43412000 single base substitution T C synonymous_variant L735L 2205A>G STAD-US 21 43412127 43412127 single base substitution G A downstream_gene_variant STAD-US 21 43412127 43412127 single base substitution G A intron_variant STAD-US 21 43412127 43412127 single base substitution G A missense_variant P693L 2078C>T STAD-US 21 43412134 43412134 deletion of <=200bp T - downstream_gene_variant STAD-US 21 43412134 43412134 deletion of <=200bp T - frameshift_variant M691 STAD-US 21 43412134 43412134 deletion of <=200bp T - intron_variant STAD-US 21 43412166 43412166 single base substitution C T downstream_gene_variant STAD-US 21 43412166 43412166 single base substitution C T intron_variant STAD-US 21 43412166 43412166 single base substitution C T missense_variant R680H 2039G>A STAD-US 21 43412172 43412172 single base substitution G A downstream_gene_variant STAD-US 21 43412172 43412172 single base substitution G A intron_variant STAD-US 21 43412172 43412172 single base substitution G A missense_variant A678V 2033C>T STAD-US 21 43413028 43413028 deletion of <=200bp T - downstream_gene_variant STAD-US 21 43413028 43413028 deletion of <=200bp T - frameshift_variant T393 STAD-US 21 43413028 43413028 deletion of <=200bp T - intron_variant STAD-US 21 43413187 43413187 deletion of <=200bp G - downstream_gene_variant STAD-US 21 43413187 43413187 deletion of <=200bp G - frameshift_variant L340 STAD-US 21 43413187 43413187 deletion of <=200bp G - intron_variant STAD-US 21 43413493 43413493 single base substitution T C downstream_gene_variant STAD-US 21 43413493 43413493 single base substitution T C intron_variant STAD-US 21 43413493 43413493 single base substitution T C missense_variant N238D 712A>G STAD-US 21 43413582 43413582 single base substitution C A downstream_gene_variant STAD-US 21 43413582 43413582 single base substitution C A intron_variant STAD-US 21 43413582 43413582 single base substitution C A missense_variant W208L 623G>T STAD-US 21 43413728 43413728 single base substitution T G downstream_gene_variant STAD-US 21 43413728 43413728 single base substitution T G intron_variant STAD-US 21 43413728 43413728 single base substitution T G missense_variant Q159H 477A>C STAD-US 21 43413803 43413803 deletion of <=200bp T - downstream_gene_variant STAD-US 21 43413803 43413803 deletion of <=200bp T - frameshift_variant K134 STAD-US 21 43413803 43413803 deletion of <=200bp T - intron_variant STAD-US 21 43414117 43414117 single base substitution A T intron_variant STAD-US 21 43414117 43414117 single base substitution A T missense_variant C30S 88T>A THCA-SA 21 43408035 43408035 single base substitution C A 3_prime_UTR_variant THCA-SA 21 43408035 43408035 single base substitution C A downstream_gene_variant THCA-SA 21 43413700 43413700 single base substitution C T downstream_gene_variant THCA-SA 21 43413700 43413700 single base substitution C T intron_variant THCA-SA 21 43413700 43413700 single base substitution C T missense_variant D169N 505G>A UCEC-US 21 43411021 43411021 single base substitution C T downstream_gene_variant UCEC-US 21 43411021 43411021 single base substitution C T missense_variant E1062K 3184G>A UCEC-US 21 43411021 43411021 single base substitution C T missense_variant E861K 2581G>A UCEC-US 21 43411418 43411418 single base substitution C A downstream_gene_variant UCEC-US 21 43411418 43411418 single base substitution C A missense_variant E728D 2184G>T UCEC-US 21 43411418 43411418 single base substitution C A missense_variant E929D 2787G>T UCEC-US 21 43411428 43411428 single base substitution C T downstream_gene_variant UCEC-US 21 43411428 43411428 single base substitution C T missense_variant R725H 2174G>A UCEC-US 21 43411428 43411428 single base substitution C T missense_variant R926H 2777G>A UCEC-US 21 43411492 43411492 single base substitution C A downstream_gene_variant UCEC-US 21 43411492 43411492 single base substitution C A stop_gained E704* 2110G>T UCEC-US 21 43411492 43411492 single base substitution C A stop_gained E905* 2713G>T UCEC-US 21 43411651 43411651 single base substitution C T downstream_gene_variant UCEC-US 21 43411651 43411651 single base substitution C T exon_variant UCEC-US 21 43411651 43411651 single base substitution C T missense_variant E651K 1951G>A UCEC-US 21 43411651 43411651 single base substitution C T missense_variant E852K 2554G>A UCEC-US 21 43411722 43411722 single base substitution G A downstream_gene_variant UCEC-US 21 43411722 43411722 single base substitution G A exon_variant UCEC-US 21 43411722 43411722 single base substitution G A missense_variant S627F 1880C>T UCEC-US 21 43411722 43411722 single base substitution G A missense_variant S828F 2483C>T UCEC-US 21 43411831 43411831 single base substitution G A downstream_gene_variant UCEC-US 21 43411831 43411831 single base substitution G A exon_variant UCEC-US 21 43411831 43411831 single base substitution G A missense_variant R591W 1771C>T UCEC-US 21 43411831 43411831 single base substitution G A missense_variant R792W 2374C>T UCEC-US 21 43412316 43412317 deletion of <=200bp TC - downstream_gene_variant UCEC-US 21 43412316 43412317 deletion of <=200bp TC - frameshift_variant E630 UCEC-US 21 43412316 43412317 deletion of <=200bp TC - intron_variant UCEC-US 21 43412353 43412353 single base substitution A C downstream_gene_variant UCEC-US 21 43412353 43412353 single base substitution A C intron_variant UCEC-US 21 43412353 43412353 single base substitution A C missense_variant F618V 1852T>G UCEC-US 21 43412720 43412720 single base substitution C A downstream_gene_variant UCEC-US 21 43412720 43412720 single base substitution C A intron_variant UCEC-US 21 43412720 43412720 single base substitution C A missense_variant K495N 1485G>T UCEC-US 21 43412872 43412872 single base substitution G A downstream_gene_variant UCEC-US 21 43412872 43412872 single base substitution G A intron_variant UCEC-US 21 43412872 43412872 single base substitution G A missense_variant R445C 1333C>T UCEC-US 21 43412904 43412904 single base substitution C A downstream_gene_variant UCEC-US 21 43412904 43412904 single base substitution C A intron_variant UCEC-US 21 43412904 43412904 single base substitution C A missense_variant S434I 1301G>T UCEC-US 21 43412988 43412988 single base substitution C T downstream_gene_variant UCEC-US 21 43412988 43412988 single base substitution C T intron_variant UCEC-US 21 43412988 43412988 single base substitution C T missense_variant R406H 1217G>A UCEC-US 21 43413036 43413036 single base substitution C A downstream_gene_variant UCEC-US 21 43413036 43413036 single base substitution C A intron_variant UCEC-US 21 43413036 43413036 single base substitution C A missense_variant S390I 1169G>T UCEC-US 21 43413338 43413338 single base substitution G T downstream_gene_variant UCEC-US 21 43413338 43413338 single base substitution G T intron_variant UCEC-US 21 43413338 43413338 single base substitution G T synonymous_variant P289P 867C>A UCEC-US 21 43413484 43413484 single base substitution A G downstream_gene_variant UCEC-US 21 43413484 43413484 single base substitution A G intron_variant UCEC-US 21 43413484 43413484 single base substitution A G synonymous_variant L241L 721T>C UCEC-US 21 43413650 43413650 single base substitution A G downstream_gene_variant UCEC-US 21 43413650 43413650 single base substitution A G intron_variant UCEC-US 21 43413650 43413650 single base substitution A G synonymous_variant N185N 555T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_16_A COSM5858671 c.2581T>A p.S861T Substitution - Missense 21:41991515-41991515 - S00933 COSM316758 c.141C>T p.V47V Substitution - coding silent 21:41993955-41993955 - T3610 COSM4743469 c.2334C>T p.L778L Substitution - coding silent 21:41991762-41991762 - TCGA-BP-4985-01 COSM478613 c.1180G>A p.A394T Substitution - Missense 21:41992916-41992916 - CSCC-56-T COSM4461956 c.1227C>T p.S409S Substitution - coding silent 21:41992869-41992869 - TCGA-BF-A1Q0-01 COSM3551016 c.2933C>T p.P978L Substitution - Missense 21:41991163-41991163 - TCGA-CH-5769-01 COSM1130537 c.2025C>T p.C675C Substitution - coding silent 21:41992071-41992071 - IGROV-1 COSM1684639 c.2649_2651delGGA p.E885delE Deletion - In frame 21:41991445-41991447 - TCGA-JX-A3Q0-01 COSM4824225 c.2149G>C p.E717Q Substitution - Missense 21:41991947-41991947 - 587350 COSM1233855 c.2993C>A p.P998H Substitution - Missense 21:41991103-41991103 - CSCC-17-T COSM4471576 c.1727C>T p.A576V Substitution - Missense 21:41992369-41992369 - Pat_06_A COSM5858674 c.1829delC p.S610fs*13 Deletion - Frameshift 21:41992267-41992267 - TCGA-EI-6917-01 COSM3423966 c.2429C>A p.S810Y Substitution - Missense 21:41991667-41991667 - BD165T COSM3912172 c.1034C>T p.S345L Substitution - Missense 21:41993062-41993062 - TCGA-C4-A0F1-01 COSM419216 c.288G>A p.K96K Substitution - coding silent 21:41993808-41993808 - YUKAT COSM5392941 c.1513C>T p.P505S Substitution - Missense 21:41992583-41992583 - SC_9046 COSM5560945 c.978C>G p.N326K Substitution - Missense 21:41993118-41993118 - YUKAT COSM5392943 c.365C>T p.P122L Substitution - Missense 21:41993731-41993731 - 2521259 COSM5891224 c.1211C>T p.P404L Substitution - Missense 21:41992885-41992885 - TCGA-C8-A12L-01 COSM444520 c.2617C>T p.Q873* Substitution - Nonsense 21:41991479-41991479 - I2L-P19Ta-Tumor-Biopsy COSM5366231 c.2326A>G p.T776A Substitution - Missense 21:41991770-41991770 - TCGA-AP-A059-01 COSM1030972 c.867C>A p.P289P Substitution - coding silent 21:41993229-41993229 - EGC15 COSM5057600 c.2921T>C p.V974A Substitution - Missense 21:41991175-41991175 - B2-Tumor COSM253898 c.434A>T p.Q145L Substitution - Missense 21:41993662-41993662 - 1_RESISTANT COSM1721058 c.2701G>A p.G901S Substitution - Missense 21:41991395-41991395 - RK092_C01 COSM1632496 c.52A>C p.S18R Substitution - Missense 21:41994044-41994044 - 07-058 COSM3736286 c.2654_2656delAGG p.E885delE Deletion - In frame 21:41991440-41991442 - TCGA-CM-6161-01 COSM1414233 c.2238C>T p.N746N Substitution - coding silent 21:41991858-41991858 - TCGA-BR-6452-01 COSM4101729 c.712A>G p.N238D Substitution - Missense 21:41993384-41993384 - PASLZM COSM5006552 c.395_396insA p.V135fs*6 Insertion - Frameshift 21:41993700-41993701 - HCC163 COSM725090 c.2077C>T p.P693S Substitution - Missense 21:41992019-41992019 - TCGA-CI-6622-01 COSM1566054 c.2859G>T p.W953C Substitution - Missense 21:41991237-41991237 - I2L-P19Ta-Tumor-Biopsy COSM5366235 c.2418C>T p.T806T Substitution - coding silent 21:41991678-41991678 - PT49 COSM5366251 c.2851C>T p.R951* Substitution - Nonsense 21:41991245-41991245 - TCGA-EE-A29V-06 COSM3551017 c.2818C>T p.H940Y Substitution - Missense 21:41991278-41991278 - I2L-P19Tb-Tumor-Biopsy COSM5366251 c.2851C>T p.R951* Substitution - Nonsense 21:41991245-41991245 - BK0018 COSM4186108 c.2262C>A p.S754R Substitution - Missense 21:41991834-41991834 - TCGA-24-1846-01 COSM1327388 c.2685A>T p.T895T Substitution - coding silent 21:41991411-41991411 - 16617 COSM1030964 c.2374C>T p.R792W Substitution - Missense 21:41991722-41991722 - TCGA-A6-6141-01 COSM1414234 c.486T>G p.T162T Substitution - coding silent 21:41993610-41993610 - TCGA-BQ-5876-01 COSM3991947 c.1925G>A p.G642D Substitution - Missense 21:41992171-41992171 - HCC78 COSM1616097 c.2808A>G p.P936P Substitution - coding silent 21:41991288-41991288 - HT-29 COSM1684639 c.2649_2651delGGA p.E885delE Deletion - In frame 21:41991445-41991447 - TCGA-AM-5821-01 COSM3758891 c.652A>C p.K218Q Substitution - Missense 21:41993444-41993444 - TCGA-BS-A0UV-01 COSM1030966 c.1852T>G p.F618V Substitution - Missense 21:41992244-41992244 - TCGA-ER-A19D-06 COSM3551020 c.1491A>G p.L497L Substitution - coding silent 21:41992605-41992605 - 587328 COSM1233854 c.2221G>A p.E741K Substitution - Missense 21:41991875-41991875 - LAU165 COSM233813 c.344C>T p.T115I Substitution - Missense 21:41993752-41993752 - TCGA-B5-A0JY-01 COSM1030958 c.3184G>A p.E1062K Substitution - Missense 21:41990912-41990912 - 2290929 COSM4440623 c.2233C>A p.R745R Substitution - coding silent 21:41991863-41991863 - TCGA-EK-A3GM-01 COSM4823459 c.2665G>A p.E889K Substitution - Missense 21:41991431-41991431 - HCC2998 COSM188357 c.880G>T p.E294* Substitution - Nonsense 21:41993216-41993216 - 10-276 COSM3736805 c.2471C>T p.S824L Substitution - Missense 21:41991625-41991625 - T96 COSM1414233 c.2238C>T p.N746N Substitution - coding silent 21:41991858-41991858 - 587228 COSM1180927 c.1889_1890insGA p.I631fs*6 Insertion - Frameshift 21:41992206-41992207 - TCGA-C8-A3M8-01 COSM5834039 c.22delA p.I8fs*10 Deletion - Frameshift 21:41994074-41994074 - B5 COSM255040 c.157G>A p.E53K Substitution - Missense 21:41993939-41993939 - TCGA-AP-A054-01 COSM1030968 c.1333C>T p.R445C Substitution - Missense 21:41992763-41992763 - TCGA-DZ-6131-01 COSM3991948 c.435A>G p.Q145Q Substitution - coding silent 21:41993661-41993661 - CSCC-31-T COSM4458371 c.1082C>T p.S361F Substitution - Missense 21:41993014-41993014 - TCGA-D3-A51R-06 COSM3551021 c.1266C>T p.S422S Substitution - coding silent 21:41992830-41992830 - CSCC-41-T COSM4482645 c.2628C>T p.I876I Substitution - coding silent 21:41991468-41991468 - CN-AML-08-T COSM3758891 c.652A>C p.K218Q Substitution - Missense 21:41993444-41993444 - TCGA-BT-A2LB-01 COSM3799936 c.728C>T p.S243L Substitution - Missense 21:41993368-41993368 - TCGA-D1-A17L-01 COSM1030975 c.473C>A p.A158E Substitution - Missense 21:41993623-41993623 - Br26X COSM39508 c.997G>A p.G333S Substitution - Missense 21:41993099-41993099 - TCGA-BR-4362-01 COSM4101728 c.2078C>T p.P693L Substitution - Missense 21:41992018-41992018 - HCC2998 COSM188357 c.880G>T p.E294* Substitution - Nonsense 21:41993216-41993216 - TCGA-FG-8187-01 COSM3972783 c.2722C>T p.L908L Substitution - coding silent 21:41991374-41991374 - HCC163T COSM725090 c.2077C>T p.P693S Substitution - Missense 21:41992019-41992019 - LOVO COSM4645416 c.2821G>A p.V941M Substitution - Missense 21:41991275-41991275 - JEKO-1 COSM1740998 c.1414_1416delGAT p.D473delD Deletion - In frame 21:41992680-41992682 - TCGA-AP-A059-01 COSM1030969 c.1301G>T p.S434I Substitution - Missense 21:41992795-41992795 - SK-MEL-28 COSM1684639 c.2649_2651delGGA p.E885delE Deletion - In frame 21:41991445-41991447 - TCGA-D3-A2JN-06 COSM3551019 c.2484C>T p.S828S Substitution - coding silent 21:41991612-41991612 - 587376 COSM1233859 c.2845A>C p.N949H Substitution - Missense 21:41991251-41991251 - TCGA-GF-A6C9-06 COSM4899989 c.379C>T p.P127S Substitution - Missense 21:41993717-41993717 - TCGA-GF-A3OT-06 COSM3551022 c.621T>C p.S207S Substitution - coding silent 21:41993475-41993475 - B5-Tumor COSM255040 c.157G>A p.E53K Substitution - Missense 21:41993939-41993939 - LN18 COSM5712961 c.1555C>T p.L519F Substitution - Missense 21:41992541-41992541 - TCGA-CD-A4MI-01 COSM1289111 c.2033C>T p.A678V Substitution - Missense 21:41992063-41992063 - BCB167T COSM4798906 c.170G>T p.S57I Substitution - Missense 21:41993926-41993926 - TCGA-CG-5733-01 COSM4101723 c.2756C>T p.T919M Substitution - Missense 21:41991340-41991340 - CN-AML-NR-08-Dx COSM3758891 c.652A>C p.K218Q Substitution - Missense 21:41993444-41993444 - TCGA-AA-3994-01 COSM298171 c.2280C>T p.P760P Substitution - coding silent 21:41991816-41991816 - TCGA-F5-6814-01 COSM3423968 c.595C>A p.H199N Substitution - Missense 21:41993501-41993501 - TCGA-EK-A3GJ-01 COSM4852551 c.1534G>C p.E512Q Substitution - Missense 21:41992562-41992562 - ITNET_1000_T COSM4963544 c.9A>C p.G3G Substitution - coding silent 21:41994087-41994087 - SC_9081 COSM5565180 c.70C>T p.R24C Substitution - Missense 21:41994026-41994026 - MOLT-4 COSM1682003 c.2900C>A p.S967* Substitution - Nonsense 21:41991196-41991196 - BK0035 COSM4187086 c.134A>G p.K45R Substitution - Missense 21:41993962-41993962 - B5 COSM255040 c.157G>A p.E53K Substitution - Missense 21:41993939-41993939 - MOLT-4 COSM1682004 c.1216C>T p.R406C Substitution - Missense 21:41992880-41992880 - C086 COSM5542150 c.3071C>T p.S1024L Substitution - Missense 21:41991025-41991025 - 2290929 COSM4440621 c.1796G>A p.G599D Substitution - Missense 21:41992300-41992300 - TCGA-D1-A17Q-01 COSM1030973 c.721T>C p.L241L Substitution - coding silent 21:41993375-41993375 - TCGA-FW-A3R5-06 COSM3912172 c.1034C>T p.S345L Substitution - Missense 21:41993062-41993062 - T578 COSM4743467 c.2568C>T p.F856F Substitution - coding silent 21:41991528-41991528 - MOLT-4 COSM1030970 c.1217G>A p.R406H Substitution - Missense 21:41992879-41992879 - TCGA-D1-A17H-01 COSM1030965 c.1888_1889delGA p.E630fs*2 Deletion - Frameshift 21:41992207-41992208 - CN-AML-NR-08-Dx COSM5426142 c.554A>G p.N185S Substitution - Missense 21:41993542-41993542 - PT08_1 COSM5894119 c.2612C>T p.S871F Substitution - Missense 21:41991484-41991484 - Pat_16_B COSM5858671 c.2581T>A p.S861T Substitution - Missense 21:41991515-41991515 - MMG1 COSM3727042 c.2897A>C p.E966A Substitution - Missense 21:41991199-41991199 - CSCC-19-T COSM4465354 c.1379C>T p.S460L Substitution - Missense 21:41992717-41992717 - TCGA-AP-A059-01 COSM1030962 c.2554G>A p.E852K Substitution - Missense 21:41991542-41991542 - TCGA-BR-6452-01 COSM2819238 c.2039G>A p.R680H Substitution - Missense 21:41992057-41992057 - I2L-P19Ta-Tumor-Organoid COSM5366231 c.2326A>G p.T776A Substitution - Missense 21:41991770-41991770 - 4-1043259-T1 COSM4745752 c.2536G>A p.V846M Substitution - Missense 21:41991560-41991560 - TCGA-18-3421-01 COSM725090 c.2077C>T p.P693S Substitution - Missense 21:41992019-41992019 - TCGA-25-1324-01 COSM116415 c.2654A>C p.E885A Substitution - Missense 21:41991442-41991442 - 1000T COSM4963544 c.9A>C p.G3G Substitution - coding silent 21:41994087-41994087 - HCC78T COSM1616097 c.2808A>G p.P936P Substitution - coding silent 21:41991288-41991288 - CRC-06T COSM1030968 c.1333C>T p.R445C Substitution - Missense 21:41992763-41992763 - 587376 COSM1233858 c.3128T>G p.F1043C Substitution - Missense 21:41990968-41990968 - 08-067 COSM305534 c.991A>C p.R331R Substitution - coding silent 21:41993105-41993105 - TCGA-AP-A054-01 COSM1030974 c.555T>C p.N185N Substitution - coding silent 21:41993541-41993541 - TCGA-B7-5816-01 COSM4101731 c.477A>C p.Q159H Substitution - Missense 21:41993619-41993619 - Au1 COSM5366251 c.2851C>T p.R951* Substitution - Nonsense 21:41991245-41991245 - TCGA-39-5022-01 COSM725092 c.2337G>T p.E779D Substitution - Missense 21:41991759-41991759 - TCGA-EB-A3XD-01 COSM3551018 c.2585C>T p.S862F Substitution - Missense 21:41991511-41991511 - S02255 COSM1616099 c.1025G>T p.R342L Substitution - Missense 21:41993071-41993071 - MDA-MB-231 COSM1684639 c.2649_2651delGGA p.E885delE Deletion - In frame 21:41991445-41991447 - 10-104 COSM3736652 c.347A>G p.N116S Substitution - Missense 21:41993749-41993749 - pfg069T COSM4753893 c.1994G>A p.R665Q Substitution - Missense 21:41992102-41992102 - PT08_2 COSM5894119 c.2612C>T p.S871F Substitution - Missense 21:41991484-41991484 - LUAD-RT-S01813 COSM383331 c.631G>C p.D211H Substitution - Missense 21:41993465-41993465 - TCGA-29-1705-01 COSM1327389 c.2751G>A p.M917I Substitution - Missense 21:41991345-41991345 - CSCC-55-T COSM4533662 c.2002G>A p.G668R Substitution - Missense 21:41992094-41992094 - HN_62646 COSM126369 c.520T>C p.S174P Substitution - Missense 21:41993576-41993576 - TCGA-AA-A010-01 COSM286814 c.609A>C p.L203F Substitution - Missense 21:41993487-41993487 - Au4 COSM5605428 c.123C>T p.F41F Substitution - coding silent 21:41993973-41993973 - TCGA-F4-6856-01 COSM1414232 c.2345G>A p.R782H Substitution - Missense 21:41991751-41991751 - TCGA-AP-A059-01 COSM1030964 c.2374C>T p.R792W Substitution - Missense 21:41991722-41991722 - T2417 COSM4101726 c.2220C>T p.H740H Substitution - coding silent 21:41991876-41991876 - I2L-P19Tb-Tumor-Organoid COSM5366251 c.2851C>T p.R951* Substitution - Nonsense 21:41991245-41991245 - TCGA-BS-A0TC-01 COSM1030961 c.2713G>T p.E905* Substitution - Nonsense 21:41991383-41991383 - ESO-114 COSM1271251 c.2281G>A p.E761K Substitution - Missense 21:41991815-41991815 - HS3124 COSM304052 c.2861G>A p.S954N Substitution - Missense 21:41991235-41991235 - TCGA-F5-6814-01 COSM3423967 c.1597G>A p.E533K Substitution - Missense 21:41992499-41992499 - LUAD-YKER9 COSM352101 c.440G>A p.R147K Substitution - Missense 21:41993656-41993656 - MOLT-4 COSM1414232 c.2345G>A p.R782H Substitution - Missense 21:41991751-41991751 - 8012352 COSM1168969 c.1273_1275delACT p.T425delT Deletion - In frame 21:41992821-41992823 - TCGA-AG-A014-01 COSM290092 c.2416A>C p.T806P Substitution - Missense 21:41991680-41991680 - TCGA-AX-A05Y-01 COSM1030960 c.2777G>A p.R926H Substitution - Missense 21:41991319-41991319 - 2521252 COSM5889415 c.2000A>C p.K667T Substitution - Missense 21:41992096-41992096 - PT49 COSM5936689 c.2728C>T p.P910S Substitution - Missense 21:41991368-41991368 - I2L-P19Ta-Tumor-Organoid COSM5366235 c.2418C>T p.T806T Substitution - coding silent 21:41991678-41991678 - TCGA-JX-A3Q0-01 COSM4824133 c.2081G>C p.G694A Substitution - Missense 21:41992015-41992015 - T2568 COSM4743465 c.2776C>T p.R926C Substitution - Missense 21:41991320-41991320 - CRC-19T COSM5481633 c.2172C>T p.C724C Substitution - coding silent 21:41991924-41991924 - TCGA-AP-A051-01 COSM1030959 c.2787G>T p.E929D Substitution - Missense 21:41991309-41991309 - Gp5D COSM2819224 c.3178A>G p.S1060G Substitution - Missense 21:41990918-41990918 - TCGA-B5-A0JY-01 COSM1030967 c.1485G>T p.K495N Substitution - Missense 21:41992611-41992611 - Pat_24_A COSM5858675 c.1322C>T p.S441L Substitution - Missense 21:41992774-41992774 - Pat_54_A COSM5858673 c.2117delC p.P706fs*11 Deletion - Frameshift 21:41991979-41991979 - 587342 COSM1233857 c.2224C>T p.R742W Substitution - Missense 21:41991872-41991872 - Pat_41_B COSM5858676 c.679G>A p.D227N Substitution - Missense 21:41993417-41993417 - Pat_41_B COSM5858677 c.566C>T p.P189L Substitution - Missense 21:41993530-41993530 - 60T COSM109913 c.2332C>T p.L778F Substitution - Missense 21:41991764-41991764 - TCGA-13-1405-01 COSM1327387 c.3_4GG>CT p.M1_E2>I* Complex - compound substitution 21:41994092-41994093 - 587342 COSM1233856 c.2686G>T p.A896S Substitution - Missense 21:41991410-41991410 - TCGA-34-2608-01 COSM725089 c.1902C>A p.A634A Substitution - coding silent 21:41992194-41992194 - OSCC-GB_00630111 COSM1030969 c.1301G>T p.S434I Substitution - Missense 21:41992795-41992795 - CSCC-7-T COSM4488643 c.335C>T p.S112F Substitution - Missense 21:41993761-41993761 - S00933 COSM316758 c.141C>T p.V47V Substitution - coding silent 21:41993955-41993955 - TCGA-AP-A056-01 COSM1030963 c.2483C>T p.S828F Substitution - Missense 21:41991613-41991613 - HCA7 COSM4630639 c.1214A>G p.H405R Substitution - Missense 21:41992882-41992882 - Hs-578-T COSM1684639 c.2649_2651delGGA p.E885delE Deletion - In frame 21:41991445-41991447 - TCGA-AZ-4615-01 COSM3693799 c.146C>T p.A49V Substitution - Missense 21:41993950-41993950 - TCGA-AK-3445-01 COSM3363447 c.2030A>T p.K677I Substitution - Missense 21:41992066-41992066 - TCGA-BP-4338-01 COSM3363448 c.1726G>C p.A576P Substitution - Missense 21:41992370-41992370 - CN-AML-08-T COSM5426142 c.554A>G p.N185S Substitution - Missense 21:41993542-41993542 - HCC78T COSM1616099 c.1025G>T p.R342L Substitution - Missense 21:41993071-41993071 - TCGA-13-0910-01 COSM77109 c.2755A>C p.T919P Substitution - Missense 21:41991341-41991341 - PCSI_0083_Pa_X COSM2819275 c.1100C>T p.S367L Substitution - Missense 21:41992996-41992996 - TCGA-HU-A4H6-01 COSM188356 c.2419G>A p.E807K Substitution - Missense 21:41991677-41991677 - HCC78 COSM1616099 c.1025G>T p.R342L Substitution - Missense 21:41993071-41993071 - T3262 COSM1030965 c.1888_1889delGA p.E630fs*2 Deletion - Frameshift 21:41992207-41992208 - EGC3 COSM5057601 c.469G>A p.E157K Substitution - Missense 21:41993627-41993627 - TCGA-CG-5727-01 COSM4101730 c.623G>T p.W208L Substitution - Missense 21:41993473-41993473 - RK165_C01 COSM1632495 c.2135T>C p.L712P Substitution - Missense 21:41991961-41991961 - DLD1 COSM4624401 c.2836T>C p.F946L Substitution - Missense 21:41991260-41991260 - TCGA-DU-7010-01 COSM3972784 c.2689C>T p.P897S Substitution - Missense 21:41991407-41991407 - TCGA-39-5022-01 COSM725091 c.2333T>G p.L778R Substitution - Missense 21:41991763-41991763 - TCGA-FW-A3R5-06 COSM3912171 c.2435C>T p.P812L Substitution - Missense 21:41991661-41991661 - ESCC_56 COSM5632199 c.2034G>A p.A678A Substitution - coding silent 21:41992062-41992062 - CSCC-18-T COSM4540919 c.2911G>A p.E971K Substitution - Missense 21:41991185-41991185 - TCGA-13-0727-01 COSM116415 c.2654A>C p.E885A Substitution - Missense 21:41991442-41991442 - ICGC_PA162 COSM3670254 c.2529C>T p.D843D Substitution - coding silent 21:41991567-41991567 - T1194 COSM4743466 c.2573C>T p.S858L Substitution - Missense 21:41991523-41991523 - HS2811 COSM304051 c.2940C>G p.N980K Substitution - Missense 21:41991156-41991156 - TCGA-F1-6177-01 COSM4101724 c.2596G>A p.E866K Substitution - Missense 21:41991500-41991500 - TCGA-BR-4361-01 COSM4101732 c.88T>A p.C30S Substitution - Missense 21:41994008-41994008 - YUTUR COSM5392940 c.2950C>T p.P984S Substitution - Missense 21:41991146-41991146 - TCGA-BR-4257-01 COSM4101727 c.2205A>G p.L735L Substitution - coding silent 21:41991891-41991891 - TCGA-HT-A5RA-01 COSM3972785 c.827G>A p.R276Q Substitution - Missense 21:41993269-41993269 - YULAN COSM1714025 c.2044C>T p.L682F Substitution - Missense 21:41992052-41992052 - BCB167T COSM4798906 c.170G>T p.S57I Substitution - Missense 21:41993926-41993926 - TCGA-D9-A6EC-06 COSM4400277 c.1524A>C p.E508D Substitution - Missense 21:41992572-41992572 - T3118 COSM4743470 c.1093T>G p.S365A Substitution - Missense 21:41993003-41993003 - 2521252 COSM5889416 c.733C>T p.P245S Substitution - Missense 21:41993363-41993363 - 1_PRE-TREATMENT COSM1721058 c.2701G>A p.G901S Substitution - Missense 21:41991395-41991395 - Pat_53_B COSM5858672 c.2335G>A p.E779K Substitution - Missense 21:41991761-41991761 - PC-3 COSM1684639 c.2649_2651delGGA p.E885delE Deletion - In frame 21:41991445-41991447 - NB-0462 COSM1289111 c.2033C>T p.A678V Substitution - Missense 21:41992063-41992063 - SJHGG068_A COSM4971319 c.1420C>A p.Q474K Substitution - Missense 21:41992676-41992676 - YUPAER COSM5392942 c.431C>T p.S144F Substitution - Missense 21:41993665-41993665 - T3118 COSM4743468 c.2399A>G p.Q800R Substitution - Missense 21:41991697-41991697 - TCGA-BR-4256-01 COSM4101722 c.2984A>G p.K995R Substitution - Missense 21:41991112-41991112 - HCC49 COSM1616098 c.1470A>T p.R490R Substitution - coding silent 21:41992626-41992626 - TCGA-FP-A4BE-01 COSM4101726 c.2220C>T p.H740H Substitution - coding silent 21:41991876-41991876 - TCGA-AX-A06H-01 COSM1030970 c.1217G>A p.R406H Substitution - Missense 21:41992879-41992879 - SK-MEL-5 COSM1684639 c.2649_2651delGGA p.E885delE Deletion - In frame 21:41991445-41991447 - ACHN COSM1684639 c.2649_2651delGGA p.E885delE Deletion - In frame 21:41991445-41991447 - MDA-MB-468 COSM1684639 c.2649_2651delGGA p.E885delE Deletion - In frame 21:41991445-41991447 - ESCC-139T COSM3939507 c.2991G>C p.Q997H Substitution - Missense 21:41991105-41991105 - LS513 COSM4646929 c.2679C>T p.A893A Substitution - coding silent 21:41991417-41991417 - TCGA-EI-6917-01 COSM3423969 c.44C>A p.S15Y Substitution - Missense 21:41994052-41994052 - TCGA-AM-5821-01 COSM3736286 c.2654_2656delAGG p.E885delE Deletion - In frame 21:41991440-41991442 - HCC49T COSM1616098 c.1470A>T p.R490R Substitution - coding silent 21:41992626-41992626 - KPOPBR-03-T COSM5965164 c.206T>C p.V69A Substitution - Missense 21:41993890-41993890 - TCGA-BR-8363-01 COSM4101725 c.2515G>A p.V839I Substitution - Missense 21:41991581-41991581 - GCT56 COSM4296333 c.1211C>A p.P404Q Substitution - Missense 21:41992885-41992885 - TCGA-06-0190-02 COSM3405404 c.2245G>A p.V749I Substitution - Missense 21:41991851-41991851 - TCGA-D1-A17D-01 COSM1030971 c.1169G>T p.S390I Substitution - Missense 21:41992927-41992927 - Gp2D COSM2819224 c.3178A>G p.S1060G Substitution - Missense 21:41990918-41990918 - HCA7 COSM3670254 c.2529C>T p.D843D Substitution - coding silent 21:41991567-41991567 - TARGET-20-PANLLX-09A-01D COSM5487401 c.1380G>C p.S460S Substitution - coding silent 21:41992716-41992716 - B2 COSM253898 c.434A>T p.Q145L Substitution - Missense 21:41993662-41993662 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.434940;Hs.434944;Hs.434946;Hs.434947 21q22.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L48V c.142T>G 21 43414063 LUAD A C Missense p.L778R c.2333T>G 21 43411872 LUSC A G Missense p.S174P c.520T>C 21 43413685 HNSC A G Synonymous p.N185N c.555T>C 21 43413650 UCEC ATGTGATTG - MultiAAMissense p.A1036_F1039delinsV c.3107_3115delCAATCACAT 21 43411090 RCCC C A Missense p.E779D c.2337G>T 21 43411868 LUSC C A Missense p.S390I c.1169G>T 21 43413036 UCEC C A Missense p.W208L c.623G>T 21 43413582 STAD C A Nonsense p.E905* c.2713G>T 21 43411492 UCEC CC AG MultiAAMissense p.M1_E2delinsI* c.3_4delinsCT 21 43414201 OV - C Frameshift p.I111Dfs*6 c.330dupG 21 43413875 HNSC C G Missense p.A576P c.1726G>C 21 43412479 RCCC C G Synonymous p.L635L c.1905G>C 21 43412300 HNSC C T Missense p.A394T c.1180G>A 21 43413025 RCCC C T Missense p.E1016K c.3046G>A 21 43411159 MM C T Missense p.E761K c.2281G>A 21 43411924 ESCA C T Missense p.E866K c.2596G>A 21 43411609 STAD C T Missense p.R406H c.1217G>A 21 43412988 UCEC C T Missense p.R926H c.2777G>A 21 43411428 UCEC C T Missense p.V749I c.2245G>A 21 43411960 GBM C T Synonymous p.K96K c.288G>A 21 43413917 BLCA C T Synonymous p.L34L c.102G>A 21 43414103 CLL C T Synonymous p.Q414Q c.1242G>A 21 43412963 BRCA G A IntronicSNV . c.1-4509C>T 21 43418713 CLL G A Missense p.A421V c.1262C>T 21 43412943 CM G A Missense p.A678V c.2033C>T 21 43412172 NB G A Missense p.G333S c.997G>A 21 43413208 GBM G A Missense p.H940Y c.2818C>T 21 43411387 CM G A Missense p.P176S c.526C>T 21 43413679 HNSC G A Missense p.P277L c.830C>T 21 43413375 COREAD G A Missense p.P693S c.2077C>T 21 43412128 LUSC G A Missense p.P936S c.2806C>T 21 43411399 CM G A Missense p.P978L c.2933C>T 21 43411272 CM G A Missense p.R445C c.1333C>T 21 43412872 UCEC G A Missense p.R792W c.2374C>T 21 43411831 NSCLC G A Missense p.S1008F c.3023C>T 21 43411182 CM G A Missense p.S243L c.728C>T 21 43413477 BLCA G A Missense p.T919M c.2756C>T 21 43411449 STAD G A Nonsense p.Q873* c.2617C>T 21 43411588 BRCA G A Synonymous p.L908L c.2722C>T 21 43411483 LGG G A Synonymous p.P760P c.2280C>T 21 43411925 COREAD G A Synonymous p.S828S c.2484C>T 21 43411721 CM G A Synonymous p.V47V c.141C>T 21 43414064 SCLC G C 3-UTRSNV . c.3198+724C>G 21 43410283 HC G C Missense p.S732C c.2195C>G 21 43412010 LUAD G C Synonymous p.L25L c.75C>G 21 43414130 LUAD G T Missense p.L682I c.2044C>A 21 43412161 LUAD G T Synonymous p.A634A c.1902C>A 21 43412303 LUSC T A Missense p.K677I c.2030A>T 21 43412175 RCCC T C 3-UTRSNV . c.3198+1304A>G 21 43409703 HC TC - Frameshift p.E630Nfs*2 c.1888_1889delGA 21 43412316 THCA TC - Frameshift p.E630Nfs*2 c.1888_1889delGA 21 43412316 UCEC T C Missense p.K995R c.2984A>G 21 43411221 STAD T C Synonymous p.L497L c.1491A>G 21 43412714 CM T C Synonymous p.L735L c.2205A>G 21 43412000 STAD T G Missense p.E885A c.2654A>C 21 43411551 OV T G Missense p.Q159H c.477A>C 21 43413728 STAD T G Missense p.S18R c.52A>C 21 43414153 HC T G Missense p.T806P c.2416A>C 21 43411789 COREAD T G Missense p.T919P c.2755A>C 21 43411450 OV TTAAAACATT - 3-UTRDeletion . c.3198+2642_3198+2651delGTTTTAATAT 21 43408358 HC