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 16 50744557 50744557 + Silent SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr16:50744557G>T c.735G>T c.(733-735)acG>acT p.T245T ACC 16 50744753 50744753 + Missense_Mutation SNP C C T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr16:50744753C>T c.931C>T c.(931-933)Cgg>Tgg p.R311W BLCA 16 50733835 50733835 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 g.chr16:50733835C>T c.510C>T c.(508-510)atC>atT p.I170I BLCA 16 50733855 50733855 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr16:50733855C>T c.530C>T c.(529-531)cCg>cTg p.P177L BLCA 16 50745099 50745099 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr16:50745099G>A c.1277G>A c.(1276-1278)cGt>cAt p.R426H BLCA 16 50745145 50745145 + Silent SNP G G A TCGA-FD-A3N6-01A-11D-A21A-08 TCGA-FD-A3N6-10A-01D-A21A-08 g.chr16:50745145G>A c.1323G>A c.(1321-1323)gaG>gaA p.E441E BLCA 16 50745164 50745164 + Missense_Mutation SNP T T C TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chr16:50745164T>C c.1342T>C c.(1342-1344)Tct>Cct p.S448P BLCA 16 50745519 50745519 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr16:50745519C>G c.1697C>G c.(1696-1698)tCa>tGa p.S566* BLCA 16 50745865 50745865 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr16:50745865G>A c.2043G>A c.(2041-2043)ctG>ctA p.L681L BLCA 16 50745896 50745896 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr16:50745896G>A c.2074G>A c.(2074-2076)Gag>Aag p.E692K BLCA 16 50746101 50746101 + Missense_Mutation SNP G G A TCGA-XF-A8HI-01A-11D-A38G-08 TCGA-XF-A8HI-10A-01D-A38J-08 g.chr16:50746101G>A c.2279G>A c.(2278-2280)cGt>cAt p.R760H BLCA 16 50750505 50750505 + Missense_Mutation SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr16:50750505G>A c.2470G>A c.(2470-2472)Gat>Aat p.D824N BLCA 16 50750868 50750868 + Silent SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr16:50750868G>A c.2613G>A c.(2611-2613)caG>caA p.Q871Q BLCA 16 50756557 50756557 + Silent SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 g.chr16:50756557C>T c.2739C>T c.(2737-2739)gaC>gaT p.D913D BLCA 16 50759418 50759418 + Silent SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr16:50759418C>T c.2901C>T c.(2899-2901)ctC>ctT p.L967L BRCA 16 50733855 50733855 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 g.chr16:50733855C>G c.530C>G c.(529-531)cCg>cGg p.P177R BRCA 16 50744980 50744980 + Silent SNP C C T TCGA-A2-A0EY-01A-11W-A050-09 TCGA-A2-A0EY-10A-01W-A055-09 g.chr16:50744980C>T c.1158C>T c.(1156-1158)ttC>ttT p.F386F BRCA 16 50745994 50745994 + Silent SNP A A C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 g.chr16:50745994A>C c.2172A>C c.(2170-2172)ccA>ccC p.P724P CESC 16 50733855 50733855 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr16:50733855C>G c.530C>G c.(529-531)cCg>cGg p.P177R CESC 16 50744657 50744657 + Missense_Mutation SNP G G C TCGA-EA-A1QS-01A-61D-A22X-09 TCGA-EA-A1QS-10A-01D-A22X-09 g.chr16:50744657G>C c.835G>C c.(835-837)Gag>Cag p.E279Q CESC 16 50745398 50745399 + Frame_Shift_Ins INS - - C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 g.chr16:50745398_50745399insC c.1576_1577insC c.(1576-1578)accfs p.T526fs CESC 16 50745680 50745680 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr16:50745680G>A c.1858G>A c.(1858-1860)Gat>Aat p.D620N CESC 16 50750827 50750827 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 g.chr16:50750827G>A c.2572G>A c.(2572-2574)Ggc>Agc p.G858S CHOL 16 50733483 50733483 + Missense_Mutation SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr16:50733483T>G c.158T>G c.(157-159)tTc>tGc p.F53C COAD 16 50733460 50733460 + Silent SNP G G A TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr16:50733460G>A c.135G>A c.(133-135)ctG>ctA p.L45L COAD 16 50733557 50733557 + Missense_Mutation SNP G G A TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr16:50733557G>A c.232G>A c.(232-234)Ggc>Agc p.G78S COAD 16 50733737 50733737 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:50733737C>T c.412C>T c.(412-414)Cgg>Tgg p.R138W COAD 16 50744943 50744943 + Missense_Mutation SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr16:50744943T>C c.1121T>C c.(1120-1122)gTc>gCc p.V374A COAD 16 50745017 50745017 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr16:50745017G>A c.1195G>A c.(1195-1197)Gac>Aac p.D399N COAD 16 50745081 50745081 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr16:50745081G>A c.1259G>A c.(1258-1260)cGc>cAc p.R420H COAD 16 50745138 50745138 + Missense_Mutation SNP G G A TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr16:50745138G>A c.1316G>A c.(1315-1317)cGc>cAc p.R439H COAD 16 50745189 50745189 + Missense_Mutation SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr16:50745189T>C c.1367T>C c.(1366-1368)cTg>cCg p.L456P COAD 16 50745330 50745331 + Frame_Shift_Ins INS - - G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr16:50745330_50745331insG c.1508_1509insG c.(1507-1512)gaggggfs p.EG503fs COAD 16 50745331 50745331 + Frame_Shift_Del DEL G G - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr16:50745331delG c.1509delG c.(1507-1509)gagfs p.E503fs COAD 16 50745331 50745331 + Frame_Shift_Del DEL G G - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr16:50745331delG c.1509delG c.(1507-1509)gagfs p.E503fs COAD 16 50745533 50745533 + Nonsense_Mutation SNP C C T TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr16:50745533C>T c.1711C>T c.(1711-1713)Cag>Tag p.Q571* COAD 16 50745534 50745534 + Missense_Mutation SNP A A T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr16:50745534A>T c.1712A>T c.(1711-1713)cAg>cTg p.Q571L COAD 16 50745613 50745613 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr16:50745613G>A c.1791G>A c.(1789-1791)gcG>gcA p.A597A COAD 16 50746018 50746018 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr16:50746018C>T c.2196C>T c.(2194-2196)agC>agT p.S732S COAD 16 50746089 50746089 + Missense_Mutation SNP G G A TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr16:50746089G>A c.2267G>A c.(2266-2268)cGg>cAg p.R756Q COAD 16 50746190 50746190 + Missense_Mutation SNP C C T TCGA-F4-6855-01A-11D-1924-10 TCGA-F4-6855-10A-01D-1924-10 g.chr16:50746190C>T c.2368C>T c.(2368-2370)Cgg>Tgg p.R790W COAD 16 50750581 50750581 + Splice_Site SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr16:50750581C>T c.2546C>T c.(2545-2547)gCt>gTt p.A849V COAD 16 50750887 50750887 + Splice_Site SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr16:50750887T>C c.e6+2 COADREAD 16 50733460 50733460 + Silent SNP G G A TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr16:50733460G>A c.135G>A c.(133-135)ctG>ctA p.L45L COADREAD 16 50733516 50733516 + Missense_Mutation SNP A A G TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr16:50733516A>G c.191A>G c.(190-192)gAg>gGg p.E64G COADREAD 16 50733557 50733557 + Missense_Mutation SNP G G A TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr16:50733557G>A c.232G>A c.(232-234)Ggc>Agc p.G78S COADREAD 16 50733737 50733737 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:50733737C>T c.412C>T c.(412-414)Cgg>Tgg p.R138W COADREAD 16 50744798 50744798 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr16:50744798C>A c.976C>A c.(976-978)Ctc>Atc p.L326I COADREAD 16 50744943 50744943 + Missense_Mutation SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr16:50744943T>C c.1121T>C c.(1120-1122)gTc>gCc p.V374A COADREAD 16 50745017 50745017 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr16:50745017G>A c.1195G>A c.(1195-1197)Gac>Aac p.D399N COADREAD 16 50745081 50745081 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr16:50745081G>A c.1259G>A c.(1258-1260)cGc>cAc p.R420H COADREAD 16 50745138 50745138 + Missense_Mutation SNP G G A TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr16:50745138G>A c.1316G>A c.(1315-1317)cGc>cAc p.R439H COADREAD 16 50745189 50745189 + Missense_Mutation SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr16:50745189T>C c.1367T>C c.(1366-1368)cTg>cCg p.L456P COADREAD 16 50745330 50745331 + Frame_Shift_Ins INS - - G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr16:50745330_50745331insG c.1508_1509insG c.(1507-1512)gaggggfs p.EG503fs COADREAD 16 50745331 50745331 + Frame_Shift_Del DEL G G - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr16:50745331delG c.1509delG c.(1507-1509)gagfs p.E503fs COADREAD 16 50745331 50745331 + Frame_Shift_Del DEL G G - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr16:50745331delG c.1509delG c.(1507-1509)gagfs p.E503fs COADREAD 16 50745482 50745482 + Missense_Mutation SNP G G A TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr16:50745482G>A c.1660G>A c.(1660-1662)Gct>Act p.A554T COADREAD 16 50745533 50745533 + Nonsense_Mutation SNP C C T TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr16:50745533C>T c.1711C>T c.(1711-1713)Cag>Tag p.Q571* COADREAD 16 50745534 50745534 + Missense_Mutation SNP A A T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr16:50745534A>T c.1712A>T c.(1711-1713)cAg>cTg p.Q571L COADREAD 16 50745613 50745613 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr16:50745613G>A c.1791G>A c.(1789-1791)gcG>gcA p.A597A COADREAD 16 50746018 50746018 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr16:50746018C>T c.2196C>T c.(2194-2196)agC>agT p.S732S COADREAD 16 50746089 50746089 + Missense_Mutation SNP G G A TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr16:50746089G>A c.2267G>A c.(2266-2268)cGg>cAg p.R756Q COADREAD 16 50746190 50746190 + Missense_Mutation SNP C C T TCGA-F4-6855-01A-11D-1924-10 TCGA-F4-6855-10A-01D-1924-10 g.chr16:50746190C>T c.2368C>T c.(2368-2370)Cgg>Tgg p.R790W COADREAD 16 50746277 50746277 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:50746277G>A c.2455G>A c.(2455-2457)Gct>Act p.A819T COADREAD 16 50750503 50750503 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:50750503G>A c.2468G>A c.(2467-2469)cGc>cAc p.R823H COADREAD 16 50750581 50750581 + Splice_Site SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr16:50750581C>T c.2546C>T c.(2545-2547)gCt>gTt p.A849V COADREAD 16 50750887 50750887 + Splice_Site SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr16:50750887T>C c.e6+2 DLBC 16 50746191 50746191 + Missense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr16:50746191G>A c.2369G>A c.(2368-2370)cGg>cAg p.R790Q DLBC 16 50746228 50746228 + Silent SNP G G T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr16:50746228G>T c.2406G>T c.(2404-2406)gtG>gtT p.V802V DLBC 16 50753892 50753892 + Missense_Mutation SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr16:50753892G>A c.2687G>A c.(2686-2688)cGa>cAa p.R896Q ESCA 16 50733865 50733865 + Splice_Site SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 g.chr16:50733865G>A c.540G>A c.(538-540)agG>agA p.R180R ESCA 16 50744810 50744811 + Missense_Mutation DNP CC CC AT TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr16:50744810_50744811CC>AT c.988_989CC>AT c.(988-990)CCa>ATa p.P330I ESCA 16 50745137 50745137 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr16:50745137C>T c.1315C>T c.(1315-1317)Cgc>Tgc p.R439C ESCA 16 50745331 50745331 + Frame_Shift_Del DEL G G - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr16:50745331delG c.1509delG c.(1507-1509)gagfs p.E503fs ESCA 16 50745944 50745944 + Missense_Mutation SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 g.chr16:50745944C>T c.2122C>T c.(2122-2124)Cgc>Tgc p.R708C ESCA 16 50756597 50756597 + Missense_Mutation SNP C C A TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 g.chr16:50756597C>A c.2779C>A c.(2779-2781)Cag>Aag p.Q927K GBM 16 50731207 50731209 + In_Frame_Del DEL TCC TCC - TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 g.chr16:50731207_50731209delTCC c.53_55delTCC c.(52-57)gtcctc>gtc p.L20del GBM 16 50733737 50733737 + Missense_Mutation SNP C C G TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 g.chr16:50733737C>G c.412C>G c.(412-414)Cgg>Ggg p.R138G GBM 16 50745689 50745689 + Missense_Mutation SNP C C G TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 g.chr16:50745689C>G c.1867C>G c.(1867-1869)Cca>Gca p.P623A GBM 16 50763750 50763750 + Silent SNP C C T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr16:50763750C>T c.2988C>T c.(2986-2988)acC>acT p.T996T GBMLGG 16 50731207 50731209 + In_Frame_Del DEL TCC TCC - TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 g.chr16:50731207_50731209delTCC c.53_55delTCC c.(52-57)gtcctc>gtc p.L20del GBMLGG 16 50733737 50733737 + Missense_Mutation SNP C C G TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 g.chr16:50733737C>G c.412C>G c.(412-414)Cgg>Ggg p.R138G GBMLGG 16 50745689 50745689 + Missense_Mutation SNP C C G TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 g.chr16:50745689C>G c.1867C>G c.(1867-1869)Cca>Gca p.P623A GBMLGG 16 50750562 50750562 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:50750562G>A c.2527G>A c.(2527-2529)Gag>Aag p.E843K GBMLGG 16 50750880 50750880 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:50750880A>G c.2625A>G c.(2623-2625)gcA>gcG p.A875A GBMLGG 16 50763750 50763750 + Silent SNP C C T TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr16:50763750C>T c.2988C>T c.(2986-2988)acC>acT p.T996T HNSC 16 50733572 50733572 + Missense_Mutation SNP C C A TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr16:50733572C>A c.247C>A c.(247-249)Cac>Aac p.H83N HNSC 16 50733835 50733835 + Silent SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 g.chr16:50733835C>T c.510C>T c.(508-510)atC>atT p.I170I HNSC 16 50744968 50744968 + Silent SNP C C T TCGA-P3-A6T0-01A-12D-A34J-08 TCGA-P3-A6T0-10A-01D-A34M-08 g.chr16:50744968C>T c.1146C>T c.(1144-1146)gaC>gaT p.D382D HNSC 16 50745419 50745419 + Nonsense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr16:50745419C>T c.1597C>T c.(1597-1599)Caa>Taa p.Q533* HNSC 16 50745595 50745595 + Silent SNP C C T TCGA-CQ-5334-01A-01D-1683-08 TCGA-CQ-5334-10A-01D-1683-08 g.chr16:50745595C>T c.1773C>T c.(1771-1773)gtC>gtT p.V591V HNSC 16 50745602 50745602 + Missense_Mutation SNP G G A TCGA-CV-6953-01A-11D-1912-08 TCGA-CV-6953-10A-01D-1912-08 g.chr16:50745602G>A c.1780G>A c.(1780-1782)Ggg>Agg p.G594R HNSC 16 50746062 50746062 + Missense_Mutation SNP A A T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr16:50746062A>T c.2240A>T c.(2239-2241)tAc>tTc p.Y747F HNSC 16 50746258 50746258 + Silent SNP T T A TCGA-P3-A6T0-01A-12D-A34J-08 TCGA-P3-A6T0-10A-01D-A34M-08 g.chr16:50746258T>A c.2436T>A c.(2434-2436)ccT>ccA p.P812P HNSC 16 50763774 50763774 + Silent SNP G G T TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr16:50763774G>T c.3012G>T c.(3010-3012)ctG>ctT p.L1004L KIPAN 16 50733767 50733767 + Missense_Mutation SNP C C T TCGA-BP-4992-01A-01D-1462-08 TCGA-BP-4992-11A-01D-1462-08 g.chr16:50733767C>T c.442C>T c.(442-444)Cat>Tat p.H148Y KIPAN 16 50745117 50745117 + Missense_Mutation SNP C C T TCGA-BP-4967-01A-01D-1462-08 TCGA-BP-4967-11A-01D-1462-08 g.chr16:50745117C>T c.1295C>T c.(1294-1296)gCg>gTg p.A432V KIPAN 16 50763736 50763736 + Missense_Mutation SNP A A T TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr16:50763736A>T c.2974A>T c.(2974-2976)Aat>Tat p.N992Y KIRC 16 50733767 50733767 + Missense_Mutation SNP C C T TCGA-BP-4992-01A-01D-1462-08 TCGA-BP-4992-11A-01D-1462-08 g.chr16:50733767C>T c.442C>T c.(442-444)Cat>Tat p.H148Y KIRC 16 50745117 50745117 + Missense_Mutation SNP C C T TCGA-BP-4967-01A-01D-1462-08 TCGA-BP-4967-11A-01D-1462-08 g.chr16:50745117C>T c.1295C>T c.(1294-1296)gCg>gTg p.A432V KIRC 16 50763736 50763736 + Missense_Mutation SNP A A T TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr16:50763736A>T c.2974A>T c.(2974-2976)Aat>Tat p.N992Y LGG 16 50750562 50750562 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:50750562G>A c.2527G>A c.(2527-2529)Gag>Aag p.E843K LGG 16 50750880 50750880 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:50750880A>G c.2625A>G c.(2623-2625)gcA>gcG p.A875A LIHC 16 50744637 50744637 + Missense_Mutation SNP G G A TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr16:50744637G>A c.815G>A c.(814-816)aGc>aAc p.S272N LIHC 16 50745410 50745410 + Missense_Mutation SNP T T C TCGA-G3-A5SL-01A-11D-A27I-10 TCGA-G3-A5SL-10A-01D-A27I-10 g.chr16:50745410T>C c.1588T>C c.(1588-1590)Tca>Cca p.S530P LIHC 16 50745876 50745876 + Missense_Mutation SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr16:50745876A>G c.2054A>G c.(2053-2055)gAg>gGg p.E685G LIHC 16 50746089 50746089 + Missense_Mutation SNP G G T TCGA-DD-AACT-01A-11D-A40R-10 TCGA-DD-AACT-10A-01D-A40U-10 g.chr16:50746089G>T c.2267G>T c.(2266-2268)cGg>cTg p.R756L LIHC 16 50750836 50750836 + Missense_Mutation SNP C C T TCGA-HP-A5N0-01A-11D-A28X-10 TCGA-HP-A5N0-10A-01D-A28X-10 g.chr16:50750836C>T c.2581C>T c.(2581-2583)Cac>Tac p.H861Y LUAD 16 50733415 50733415 + Silent SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr16:50733415G>T c.90G>T c.(88-90)tcG>tcT p.S30S LUAD 16 50733449 50733449 + Missense_Mutation SNP G G A TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr16:50733449G>A c.124G>A c.(124-126)Gtc>Atc p.V42I LUAD 16 50733452 50733452 + Nonsense_Mutation SNP G G T TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr16:50733452G>T c.127G>T c.(127-129)Gag>Tag p.E43* LUAD 16 50733803 50733803 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr16:50733803G>A c.478G>A c.(478-480)Ggt>Agt p.G160S LUAD 16 50733866 50733866 + Splice_Site SNP G G T TCGA-O1-A52J-01A-11D-A25L-08 TCGA-O1-A52J-10A-01D-A25L-08 g.chr16:50733866G>T c.e2+1 LUAD 16 50744526 50744526 + Missense_Mutation SNP G G T TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chr16:50744526G>T c.704G>T c.(703-705)cGc>cTc p.R235L LUAD 16 50744599 50744599 + Silent SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 g.chr16:50744599C>A c.777C>A c.(775-777)gtC>gtA p.V259V LUAD 16 50744652 50744652 + Missense_Mutation SNP G G T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr16:50744652G>T c.830G>T c.(829-831)gGc>gTc p.G277V LUAD 16 50744658 50744658 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr16:50744658A>T c.836A>T c.(835-837)gAg>gTg p.E279V LUAD 16 50744679 50744679 + Missense_Mutation SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr16:50744679G>A c.857G>A c.(856-858)gGc>gAc p.G286D LUAD 16 50744734 50744734 + Silent SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr16:50744734C>A c.912C>A c.(910-912)ggC>ggA p.G304G LUAD 16 50744743 50744743 + Silent SNP G G A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr16:50744743G>A c.921G>A c.(919-921)acG>acA p.T307T LUAD 16 50744743 50744743 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr16:50744743G>T c.921G>T c.(919-921)acG>acT p.T307T LUAD 16 50745221 50745221 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr16:50745221G>A c.1399G>A c.(1399-1401)Gac>Aac p.D467N LUAD 16 50745427 50745427 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr16:50745427G>T c.1605G>T c.(1603-1605)ctG>ctT p.L535L LUAD 16 50745444 50745444 + Missense_Mutation SNP G G T TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr16:50745444G>T c.1622G>T c.(1621-1623)cGg>cTg p.R541L LUAD 16 50745449 50745449 + Missense_Mutation SNP C C T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 g.chr16:50745449C>T c.1627C>T c.(1627-1629)Cgc>Tgc p.R543C LUAD 16 50745464 50745464 + Silent SNP C C T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr16:50745464C>T c.1642C>T c.(1642-1644)Ctg>Ttg p.L548L LUAD 16 50745496 50745496 + Silent SNP G G C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr16:50745496G>C c.1674G>C c.(1672-1674)ctG>ctC p.L558L LUAD 16 50745598 50745598 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr16:50745598G>T c.1776G>T c.(1774-1776)gtG>gtT p.V592V LUAD 16 50745614 50745614 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr16:50745614C>A c.1792C>A c.(1792-1794)Ccc>Acc p.P598T LUAD 16 50745748 50745748 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 g.chr16:50745748G>T c.1926G>T c.(1924-1926)agG>agT p.R642S LUAD 16 50746260 50746260 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr16:50746260G>C c.2438G>C c.(2437-2439)tGc>tCc p.C813S LUAD 16 50750868 50750868 + Silent SNP G G A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr16:50750868G>A c.2613G>A c.(2611-2613)caG>caA p.Q871Q LUAD 16 50753905 50753905 + Silent SNP C C A TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr16:50753905C>A c.2700C>A c.(2698-2700)tcC>tcA p.S900S LUAD 16 50756544 50756544 + Missense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 g.chr16:50756544A>T c.2726A>T c.(2725-2727)aAc>aTc p.N909I LUAD 16 50756606 50756606 + Missense_Mutation SNP A A G TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr16:50756606A>G c.2788A>G c.(2788-2790)Agg>Ggg p.R930G LUAD 16 50759412 50759412 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 g.chr16:50759412C>A c.2895C>A c.(2893-2895)aaC>aaA p.N965K LUSC 16 50733863 50733863 + Missense_Mutation SNP A A T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr16:50733863A>T c.538A>T c.(538-540)Agg>Tgg p.R180W LUSC 16 50741806 50741806 + Missense_Mutation SNP G G C TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr16:50741806G>C c.581G>C c.(580-582)gGa>gCa p.G194A LUSC 16 50744674 50744674 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr16:50744674C>T c.852C>T c.(850-852)acC>acT p.T284T LUSC 16 50744691 50744691 + Missense_Mutation SNP A A T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr16:50744691A>T c.869A>T c.(868-870)gAc>gTc p.D290V LUSC 16 50744941 50744941 + Silent SNP T T A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr16:50744941T>A c.1119T>A c.(1117-1119)cgT>cgA p.R373R LUSC 16 50745180 50745180 + Missense_Mutation SNP A A G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr16:50745180A>G c.1358A>G c.(1357-1359)gAg>gGg p.E453G LUSC 16 50745311 50745311 + Missense_Mutation SNP C C A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr16:50745311C>A c.1489C>A c.(1489-1491)Cag>Aag p.Q497K LUSC 16 50745378 50745378 + Missense_Mutation SNP A A C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 g.chr16:50745378A>C c.1556A>C c.(1555-1557)cAg>cCg p.Q519P LUSC 16 50745449 50745449 + Missense_Mutation SNP C C T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr16:50745449C>T c.1627C>T c.(1627-1629)Cgc>Tgc p.R543C LUSC 16 50745745 50745745 + Silent SNP C C A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr16:50745745C>A c.1923C>A c.(1921-1923)gcC>gcA p.A641A LUSC 16 50745778 50745778 + Silent SNP G G A TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr16:50745778G>A c.1956G>A c.(1954-1956)tcG>tcA p.S652S LUSC 16 50746191 50746191 + Missense_Mutation SNP G G T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr16:50746191G>T c.2369G>T c.(2368-2370)cGg>cTg p.R790L LUSC 16 50756589 50756589 + Missense_Mutation SNP G G T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 g.chr16:50756589G>T c.2771G>T c.(2770-2772)gGt>gTt p.G924V LUSC 16 50759418 50759418 + Silent SNP C C G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr16:50759418C>G c.2901C>G c.(2899-2901)ctC>ctG p.L967L LUSC 16 50759418 50759419 + Nonsense_Mutation DNP CC CC AT TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr16:50759418_50759419CC>AT c.2901_2902CC>AT c.(2899-2904)ctCCag>ctATag p.Q968* OV 16 50733758 50733758 + Missense_Mutation SNP C C A TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 g.chr16:50733758C>A c.433C>A c.(433-435)Ctc>Atc p.L145I OV 16 50745015 50745015 + Missense_Mutation SNP C C T TCGA-23-1119-01A-02W-0484-10 TCGA-23-1119-10A-01W-0484-10 g.chr16:50745015C>T c.1193C>T c.(1192-1194)aCc>aTc p.T398I OV 16 50745533 50745533 + Nonsense_Mutation SNP C C T TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 g.chr16:50745533C>T c.1711C>T c.(1711-1713)Cag>Tag p.Q571* OV 16 50759443 50759443 + Missense_Mutation SNP G G A TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 g.chr16:50759443G>A c.2926G>A c.(2926-2928)Gca>Aca p.A976T PAAD 16 50733613 50733613 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:50733613T>C c.288T>C c.(286-288)ggT>ggC p.G96G PAAD 16 50745137 50745137 + Missense_Mutation SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 g.chr16:50745137C>T c.1315C>T c.(1315-1317)Cgc>Tgc p.R439C PAAD 16 50745198 50745198 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:50745198G>A c.1376G>A c.(1375-1377)cGc>cAc p.R459H PAAD 16 50745331 50745331 + Frame_Shift_Del DEL G G - TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:50745331delG c.1509delG c.(1507-1509)gagfs p.E503fs PAAD 16 50745492 50745492 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:50745492G>A c.1670G>A c.(1669-1671)gGc>gAc p.G557D PAAD 16 50746021 50746021 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:50746021G>A c.2199G>A c.(2197-2199)gtG>gtA p.V733V PRAD 16 50733414 50733414 + Missense_Mutation SNP C C T TCGA-J4-A83J-01A-11D-A364-08 TCGA-J4-A83J-10B-01D-A362-08 g.chr16:50733414C>T c.89C>T c.(88-90)tCg>tTg p.S30L PRAD 16 50733610 50733610 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:50733610G>T c.285G>T c.(283-285)aaG>aaT p.K95N PRAD 16 50733808 50733808 + Silent SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 g.chr16:50733808C>T c.483C>T c.(481-483)ttC>ttT p.F161F PRAD 16 50745558 50745558 + Missense_Mutation SNP A A G TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 g.chr16:50745558A>G c.1736A>G c.(1735-1737)gAc>gGc p.D579G PRAD 16 50750840 50750840 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:50750840C>T c.2585C>T c.(2584-2586)tCc>tTc p.S862F READ 16 50733516 50733516 + Missense_Mutation SNP A A G TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr16:50733516A>G c.191A>G c.(190-192)gAg>gGg p.E64G READ 16 50744798 50744798 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr16:50744798C>A c.976C>A c.(976-978)Ctc>Atc p.L326I READ 16 50745482 50745482 + Missense_Mutation SNP G G A TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr16:50745482G>A c.1660G>A c.(1660-1662)Gct>Act p.A554T READ 16 50746277 50746277 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:50746277G>A c.2455G>A c.(2455-2457)Gct>Act p.A819T READ 16 50750503 50750503 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:50750503G>A c.2468G>A c.(2467-2469)cGc>cAc p.R823H SKCM 16 50733414 50733414 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50733414C>T c.89C>T c.(88-90)tCg>tTg p.S30L SKCM 16 50733428 50733428 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr16:50733428C>T c.103C>T c.(103-105)Cag>Tag p.Q35* SKCM 16 50733542 50733542 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50733542G>A c.217G>A c.(217-219)Ggc>Agc p.G73S SKCM 16 50733553 50733553 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr16:50733553C>T c.228C>T c.(226-228)ctC>ctT p.L76L SKCM 16 50733554 50733554 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr16:50733554C>T c.229C>T c.(229-231)Ctg>Ttg p.L77L SKCM 16 50733668 50733668 + Nonsense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr16:50733668C>T c.343C>T c.(343-345)Cag>Tag p.Q115* SKCM 16 50733833 50733833 + Missense_Mutation SNP A A T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50733833A>T c.508A>T c.(508-510)Atc>Ttc p.I170F SKCM 16 50733855 50733855 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr16:50733855C>T c.530C>T c.(529-531)cCg>cTg p.P177L SKCM 16 50741774 50741774 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50741774G>A c.549G>A c.(547-549)agG>agA p.R183R SKCM 16 50744591 50744591 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50744591C>T c.769C>T c.(769-771)Ctg>Ttg p.L257L SKCM 16 50744602 50744602 + Nonsense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr16:50744602G>A c.780G>A c.(778-780)tgG>tgA p.W260* SKCM 16 50744693 50744693 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr16:50744693G>A c.871G>A c.(871-873)Gat>Aat p.D291N SKCM 16 50744798 50744798 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr16:50744798C>T c.976C>T c.(976-978)Ctc>Ttc p.L326F SKCM 16 50744939 50744939 + Missense_Mutation SNP C C T TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr16:50744939C>T c.1117C>T c.(1117-1119)Cgt>Tgt p.R373C SKCM 16 50744969 50744969 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50744969G>A c.1147G>A c.(1147-1149)Gag>Aag p.E383K SKCM 16 50744993 50744993 + Missense_Mutation SNP C C T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr16:50744993C>T c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C SKCM 16 50745127 50745127 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr16:50745127G>A c.1305G>A c.(1303-1305)agG>agA p.R435R SKCM 16 50745440 50745440 + Missense_Mutation SNP C C A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr16:50745440C>A c.1618C>A c.(1618-1620)Ctt>Att p.L540I SKCM 16 50745443 50745443 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr16:50745443C>T c.1621C>T c.(1621-1623)Cgg>Tgg p.R541W SKCM 16 50745455 50745455 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr16:50745455C>T c.1633C>T c.(1633-1635)Ccc>Tcc p.P545S SKCM 16 50745620 50745620 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr16:50745620G>A c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K SKCM 16 50745703 50745703 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr16:50745703A>T c.1881A>T c.(1879-1881)agA>agT p.R627S SKCM 16 50745788 50745788 + Missense_Mutation SNP G G C TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr16:50745788G>C c.1966G>C c.(1966-1968)Gac>Cac p.D656H SKCM 16 50750524 50750524 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50750524G>A c.2489G>A c.(2488-2490)cGa>cAa p.R830Q SKCM 16 50753891 50753891 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr16:50753891C>T c.2686C>T c.(2686-2688)Cga>Tga p.R896* SKCM 16 50753905 50753905 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr16:50753905C>T c.2700C>T c.(2698-2700)tcC>tcT p.S900S SKCM 16 50756563 50756563 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50756563G>A c.2745G>A c.(2743-2745)ggG>ggA p.G915G SKCM 16 50756591 50756591 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr16:50756591G>A c.2773G>A c.(2773-2775)Gat>Aat p.D925N SKCM 16 50757272 50757272 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50757272G>A c.2859G>A c.(2857-2859)aaG>aaA p.K953K SKCM 16 50759401 50759401 + Splice_Site SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr16:50759401C>T c.2884C>T c.(2884-2886)Ctg>Ttg p.L962L SKCM 16 50759407 50759407 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50759407G>A c.2890G>A c.(2890-2892)Gag>Aag p.E964K SKCM 16 50759472 50759472 + Silent SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr16:50759472G>A c.2955G>A c.(2953-2955)ttG>ttA p.L985L SKCM 16 50763758 50763758 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr16:50763758G>A c.2996G>A c.(2995-2997)gGg>gAg p.G999E SKCM 16 50763780 50763780 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr16:50763780C>T c.3018C>T c.(3016-3018)gcC>gcT p.A1006A SKCM 16 50763781 50763781 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr16:50763781C>T c.3019C>T c.(3019-3021)Ctt>Ttt p.L1007F SKCM 16 50763788 50763788 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr16:50763788G>A c.3026G>A c.(3025-3027)aGg>aAg p.R1009K SKCM 16 50763802 50763802 + Silent SNP C C T TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr16:50763802C>T c.3040C>T c.(3040-3042)Ctg>Ttg p.L1014L SKCM 16 50765666 50765666 + Missense_Mutation SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr16:50765666G>A c.3059G>A c.(3058-3060)gGg>gAg p.G1020E SKCM 16 50765676 50765676 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr16:50765676C>T c.3069C>T c.(3067-3069)ttC>ttT p.F1023F SKCM 16 50765683 50765683 + Missense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr16:50765683G>A c.3076G>A c.(3076-3078)Gag>Aag p.E1026K

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 16 50745581 50745581 single base substitution C T downstream_gene_variant ALL-US 16 50745581 50745581 single base substitution C T missense_variant R587C 1759C>T ALL-US 16 50745581 50745581 single base substitution C T upstream_gene_variant BLCA-CN 16 50745673 50745673 single base substitution C T downstream_gene_variant BLCA-CN 16 50745673 50745673 single base substitution C T synonymous_variant L617L 1851C>T BLCA-CN 16 50745673 50745673 single base substitution C T upstream_gene_variant BLCA-CN 16 50745896 50745896 single base substitution G A downstream_gene_variant BLCA-CN 16 50745896 50745896 single base substitution G A missense_variant E692K 2074G>A BLCA-CN 16 50745896 50745896 single base substitution G A upstream_gene_variant BLCA-US 16 50733855 50733855 single base substitution C T 3_prime_UTR_variant BLCA-US 16 50733855 50733855 single base substitution C T downstream_gene_variant BLCA-US 16 50733855 50733855 single base substitution C T exon_variant BLCA-US 16 50733855 50733855 single base substitution C T missense_variant P177L 530C>T BLCA-US 16 50745519 50745519 single base substitution C G downstream_gene_variant BLCA-US 16 50745519 50745519 single base substitution C G stop_gained S566* 1697C>G BLCA-US 16 50745519 50745519 single base substitution C G upstream_gene_variant BLCA-US 16 50745896 50745896 single base substitution G A downstream_gene_variant BLCA-US 16 50745896 50745896 single base substitution G A missense_variant E692K 2074G>A BLCA-US 16 50745896 50745896 single base substitution G A upstream_gene_variant BRCA-EU 16 50724170 50724170 single base substitution A G upstream_gene_variant BRCA-EU 16 50725547 50725547 single base substitution G A upstream_gene_variant BRCA-EU 16 50726010 50726010 single base substitution T A upstream_gene_variant BRCA-EU 16 50726289 50726289 single base substitution C G upstream_gene_variant BRCA-EU 16 50727376 50727376 single base substitution C G upstream_gene_variant BRCA-EU 16 50727614 50727614 single base substitution G A intron_variant BRCA-EU 16 50727614 50727614 single base substitution G A upstream_gene_variant BRCA-EU 16 50729584 50729584 single base substitution G A intron_variant BRCA-EU 16 50729584 50729584 single base substitution G A upstream_gene_variant BRCA-EU 16 50729936 50729936 insertion of <=200bp - G intron_variant BRCA-EU 16 50729936 50729936 insertion of <=200bp - G upstream_gene_variant BRCA-EU 16 50730702 50730702 single base substitution T A intron_variant BRCA-EU 16 50730702 50730702 single base substitution T A upstream_gene_variant BRCA-EU 16 50731041 50731041 single base substitution G C intron_variant BRCA-EU 16 50731041 50731041 single base substitution G C upstream_gene_variant BRCA-EU 16 50731882 50731882 single base substitution C G 3_prime_UTR_variant BRCA-EU 16 50731882 50731882 single base substitution C G intron_variant BRCA-EU 16 50731916 50731916 single base substitution G C 3_prime_UTR_variant BRCA-EU 16 50731916 50731916 single base substitution G C intron_variant BRCA-EU 16 50733304 50733304 single base substitution C T intron_variant BRCA-EU 16 50734868 50734868 single base substitution T G downstream_gene_variant BRCA-EU 16 50734868 50734868 single base substitution T G intron_variant BRCA-EU 16 50734907 50734907 single base substitution G A downstream_gene_variant BRCA-EU 16 50734907 50734907 single base substitution G A intron_variant BRCA-EU 16 50736850 50736850 single base substitution C G downstream_gene_variant BRCA-EU 16 50736850 50736850 single base substitution C G intron_variant BRCA-EU 16 50737578 50737578 single base substitution G C downstream_gene_variant BRCA-EU 16 50737578 50737578 single base substitution G C intron_variant BRCA-EU 16 50740003 50740003 single base substitution G A intron_variant BRCA-EU 16 50740984 50740984 single base substitution T C intron_variant BRCA-EU 16 50742430 50742430 deletion of <=200bp T - intron_variant BRCA-EU 16 50742430 50742430 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 50742478 50742478 single base substitution C G intron_variant BRCA-EU 16 50742478 50742478 single base substitution C G upstream_gene_variant BRCA-EU 16 50742713 50742713 single base substitution G T intron_variant BRCA-EU 16 50742713 50742713 single base substitution G T upstream_gene_variant BRCA-EU 16 50743611 50743611 single base substitution A C intron_variant BRCA-EU 16 50743611 50743611 single base substitution A C upstream_gene_variant BRCA-EU 16 50744564 50744564 single base substitution C A 3_prime_UTR_variant BRCA-EU 16 50744564 50744564 single base substitution C A exon_variant BRCA-EU 16 50744564 50744564 single base substitution C A missense_variant L248M 742C>A BRCA-EU 16 50744564 50744564 single base substitution C A upstream_gene_variant BRCA-EU 16 50745582 50745582 single base substitution G T downstream_gene_variant BRCA-EU 16 50745582 50745582 single base substitution G T missense_variant R587L 1760G>T BRCA-EU 16 50745582 50745582 single base substitution G T upstream_gene_variant BRCA-EU 16 50746688 50746688 single base substitution G A downstream_gene_variant BRCA-EU 16 50746688 50746688 single base substitution G A intron_variant BRCA-EU 16 50747013 50747013 single base substitution G A downstream_gene_variant BRCA-EU 16 50747013 50747013 single base substitution G A intron_variant BRCA-EU 16 50748472 50748472 single base substitution C T downstream_gene_variant BRCA-EU 16 50748472 50748472 single base substitution C T intron_variant BRCA-EU 16 50748894 50748894 single base substitution C G downstream_gene_variant BRCA-EU 16 50748894 50748894 single base substitution C G intron_variant BRCA-EU 16 50748972 50748972 single base substitution G C downstream_gene_variant BRCA-EU 16 50748972 50748972 single base substitution G C intron_variant BRCA-EU 16 50749747 50749747 single base substitution A C downstream_gene_variant BRCA-EU 16 50749747 50749747 single base substitution A C intron_variant BRCA-EU 16 50750333 50750333 single base substitution G T intron_variant BRCA-EU 16 50751449 50751449 single base substitution C G intron_variant BRCA-EU 16 50752247 50752247 single base substitution G C intron_variant BRCA-EU 16 50752741 50752741 single base substitution C G intron_variant BRCA-EU 16 50754881 50754881 single base substitution A G intron_variant BRCA-EU 16 50758116 50758116 single base substitution G T downstream_gene_variant BRCA-EU 16 50758116 50758116 single base substitution G T intron_variant BRCA-EU 16 50758488 50758488 single base substitution A C downstream_gene_variant BRCA-EU 16 50758488 50758488 single base substitution A C intron_variant BRCA-EU 16 50760258 50760258 single base substitution G T downstream_gene_variant BRCA-EU 16 50760258 50760258 single base substitution G T intron_variant BRCA-EU 16 50760961 50760961 single base substitution G A downstream_gene_variant BRCA-EU 16 50760961 50760961 single base substitution G A intron_variant BRCA-EU 16 50766619 50766619 single base substitution T C 3_prime_UTR_variant BRCA-EU 16 50767223 50767223 single base substitution C T downstream_gene_variant BRCA-EU 16 50767594 50767594 single base substitution C A downstream_gene_variant BRCA-EU 16 50768252 50768252 single base substitution A G downstream_gene_variant BRCA-EU 16 50768400 50768400 single base substitution G A downstream_gene_variant BRCA-FR 16 50726289 50726289 single base substitution C G upstream_gene_variant BRCA-FR 16 50728413 50728413 single base substitution C T intron_variant BRCA-FR 16 50728413 50728413 single base substitution C T upstream_gene_variant BRCA-FR 16 50734907 50734907 single base substitution G A downstream_gene_variant BRCA-FR 16 50734907 50734907 single base substitution G A intron_variant BRCA-FR 16 50740003 50740003 single base substitution G A intron_variant BRCA-FR 16 50741307 50741307 single base substitution C G intron_variant BRCA-FR 16 50741307 50741307 single base substitution C G upstream_gene_variant BRCA-FR 16 50767290 50767290 single base substitution C T downstream_gene_variant BRCA-UK 16 50729584 50729584 single base substitution G A intron_variant BRCA-UK 16 50729584 50729584 single base substitution G A upstream_gene_variant BRCA-UK 16 50733304 50733304 single base substitution C T intron_variant BRCA-UK 16 50748972 50748972 single base substitution G C downstream_gene_variant BRCA-UK 16 50748972 50748972 single base substitution G C intron_variant BRCA-UK 16 50752247 50752247 single base substitution G C intron_variant BRCA-UK 16 50760961 50760961 single base substitution G A downstream_gene_variant BRCA-UK 16 50760961 50760961 single base substitution G A intron_variant BRCA-US 16 50733855 50733855 single base substitution C G 3_prime_UTR_variant BRCA-US 16 50733855 50733855 single base substitution C G downstream_gene_variant BRCA-US 16 50733855 50733855 single base substitution C G exon_variant BRCA-US 16 50733855 50733855 single base substitution C G missense_variant P177R 530C>G BRCA-US 16 50744980 50744980 single base substitution C T downstream_gene_variant BRCA-US 16 50744980 50744980 single base substitution C T synonymous_variant F386F 1158C>T BRCA-US 16 50744980 50744980 single base substitution C T upstream_gene_variant BRCA-US 16 50745994 50745994 single base substitution A C downstream_gene_variant BRCA-US 16 50745994 50745994 single base substitution A C synonymous_variant P724P 2172A>C BRCA-US 16 50745994 50745994 single base substitution A C upstream_gene_variant BTCA-JP 16 50733484 50733484 single base substitution C T 3_prime_UTR_variant BTCA-JP 16 50733484 50733484 single base substitution C T exon_variant BTCA-JP 16 50733484 50733484 single base substitution C T synonymous_variant F26F 78C>T BTCA-JP 16 50733484 50733484 single base substitution C T synonymous_variant F53F 159C>T BTCA-JP 16 50744698 50744698 single base substitution G A 3_prime_UTR_variant BTCA-JP 16 50744698 50744698 single base substitution G A exon_variant BTCA-JP 16 50744698 50744698 single base substitution G A synonymous_variant A292A 876G>A BTCA-JP 16 50744698 50744698 single base substitution G A upstream_gene_variant BTCA-JP 16 50744901 50744901 single base substitution A T downstream_gene_variant BTCA-JP 16 50744901 50744901 single base substitution A T missense_variant Q360L 1079A>T BTCA-JP 16 50744901 50744901 single base substitution A T upstream_gene_variant BTCA-JP 16 50753886 50753886 single base substitution G T 3_prime_UTR_variant BTCA-JP 16 50753886 50753886 single base substitution G T intron_variant BTCA-JP 16 50753886 50753886 single base substitution G T missense_variant G105V 314G>T BTCA-JP 16 50753886 50753886 single base substitution G T missense_variant G894V 2681G>T BTCA-JP 16 50757066 50757066 single base substitution G A intron_variant CESC-US 16 50733855 50733855 single base substitution C G 3_prime_UTR_variant CESC-US 16 50733855 50733855 single base substitution C G downstream_gene_variant CESC-US 16 50733855 50733855 single base substitution C G exon_variant CESC-US 16 50733855 50733855 single base substitution C G missense_variant P177R 530C>G CESC-US 16 50744657 50744657 single base substitution G C 3_prime_UTR_variant CESC-US 16 50744657 50744657 single base substitution G C exon_variant CESC-US 16 50744657 50744657 single base substitution G C missense_variant E279Q 835G>C CESC-US 16 50744657 50744657 single base substitution G C upstream_gene_variant CESC-US 16 50745398 50745398 insertion of <=200bp - C downstream_gene_variant CESC-US 16 50745398 50745398 insertion of <=200bp - C frameshift_variant T526H? CESC-US 16 50745398 50745398 insertion of <=200bp - C upstream_gene_variant CESC-US 16 50745680 50745680 single base substitution G A downstream_gene_variant CESC-US 16 50745680 50745680 single base substitution G A missense_variant D620N 1858G>A CESC-US 16 50745680 50745680 single base substitution G A upstream_gene_variant CESC-US 16 50750827 50750827 single base substitution G A intron_variant CESC-US 16 50750827 50750827 single base substitution G A missense_variant G858S 2572G>A CLLE-ES 16 50732780 50732780 single base substitution C A intron_variant CLLE-ES 16 50746526 50746526 single base substitution A G 3_prime_UTR_variant CLLE-ES 16 50746526 50746526 single base substitution A G downstream_gene_variant CLLE-ES 16 50746526 50746526 single base substitution A G intron_variant CLLE-ES 16 50757603 50757603 single base substitution A G downstream_gene_variant CLLE-ES 16 50757603 50757603 single base substitution A G intron_variant CLLE-ES 16 50758741 50758741 single base substitution A G downstream_gene_variant CLLE-ES 16 50758741 50758741 single base substitution A G intron_variant CLLE-ES 16 50760536 50760536 single base substitution T G downstream_gene_variant CLLE-ES 16 50760536 50760536 single base substitution T G intron_variant COAD-US 16 50733737 50733737 single base substitution C T 3_prime_UTR_variant COAD-US 16 50733737 50733737 single base substitution C T exon_variant COAD-US 16 50733737 50733737 single base substitution C T missense_variant R111W 331C>T COAD-US 16 50733737 50733737 single base substitution C T missense_variant R138W 412C>T COAD-US 16 50745081 50745081 single base substitution G A downstream_gene_variant COAD-US 16 50745081 50745081 single base substitution G A missense_variant R420H 1259G>A COAD-US 16 50745081 50745081 single base substitution G A upstream_gene_variant COAD-US 16 50745138 50745138 single base substitution G A downstream_gene_variant COAD-US 16 50745138 50745138 single base substitution G A missense_variant R439H 1316G>A COAD-US 16 50745138 50745138 single base substitution G A upstream_gene_variant COAD-US 16 50745330 50745330 insertion of <=200bp - G downstream_gene_variant COAD-US 16 50745330 50745330 insertion of <=200bp - G frameshift_variant E503G? COAD-US 16 50745330 50745330 insertion of <=200bp - G upstream_gene_variant COAD-US 16 50745331 50745331 deletion of <=200bp G - downstream_gene_variant COAD-US 16 50745331 50745331 deletion of <=200bp G - frameshift_variant E503 COAD-US 16 50745331 50745331 deletion of <=200bp G - upstream_gene_variant COAD-US 16 50745399 50745399 deletion of <=200bp C - downstream_gene_variant COAD-US 16 50745399 50745399 deletion of <=200bp C - frameshift_variant T526 COAD-US 16 50745399 50745399 deletion of <=200bp C - upstream_gene_variant COAD-US 16 50745583 50745583 single base substitution T G downstream_gene_variant COAD-US 16 50745583 50745583 single base substitution T G synonymous_variant R587R 1761T>G COAD-US 16 50745583 50745583 single base substitution T G upstream_gene_variant COAD-US 16 50746190 50746190 single base substitution C T downstream_gene_variant COAD-US 16 50746190 50746190 single base substitution C T exon_variant COAD-US 16 50746190 50746190 single base substitution C T missense_variant R29W 85C>T COAD-US 16 50746190 50746190 single base substitution C T missense_variant R790W 2368C>T COAD-US 16 50750581 50750581 single base substitution C T intron_variant COAD-US 16 50750581 50750581 single base substitution C T missense_variant A849V 2546C>T COAD-US 16 50750581 50750581 single base substitution C T missense_variant A88V 263C>T COAD-US 16 50750887 50750887 single base substitution T C intron_variant COAD-US 16 50750887 50750887 single base substitution T C splice_donor_variant COAD-US 16 50753861 50753861 single base substitution G A 3_prime_UTR_variant COAD-US 16 50753861 50753861 single base substitution G A intron_variant COAD-US 16 50753861 50753861 single base substitution G A missense_variant A886T 2656G>A COAD-US 16 50753861 50753861 single base substitution G A missense_variant A97T 289G>A COCA-CN 16 50733719 50733719 single base substitution C T 3_prime_UTR_variant COCA-CN 16 50733719 50733719 single base substitution C T exon_variant COCA-CN 16 50733719 50733719 single base substitution C T stop_gained R105* 313C>T COCA-CN 16 50733719 50733719 single base substitution C T stop_gained R132* 394C>T COCA-CN 16 50741800 50741800 single base substitution C T 3_prime_UTR_variant COCA-CN 16 50741800 50741800 single base substitution C T exon_variant COCA-CN 16 50741800 50741800 single base substitution C T intron_variant COCA-CN 16 50741800 50741800 single base substitution C T missense_variant A192V 575C>T COCA-CN 16 50741800 50741800 single base substitution C T upstream_gene_variant COCA-CN 16 50744472 50744472 single base substitution C T 3_prime_UTR_variant COCA-CN 16 50744472 50744472 single base substitution C T exon_variant COCA-CN 16 50744472 50744472 single base substitution C T missense_variant A217V 650C>T COCA-CN 16 50744472 50744472 single base substitution C T upstream_gene_variant COCA-CN 16 50744482 50744482 single base substitution G T 3_prime_UTR_variant COCA-CN 16 50744482 50744482 single base substitution G T exon_variant COCA-CN 16 50744482 50744482 single base substitution G T missense_variant K220N 660G>T COCA-CN 16 50744482 50744482 single base substitution G T upstream_gene_variant COCA-CN 16 50744859 50744859 single base substitution G A downstream_gene_variant COCA-CN 16 50744859 50744859 single base substitution G A exon_variant COCA-CN 16 50744859 50744859 single base substitution G A missense_variant R346Q 1037G>A COCA-CN 16 50744859 50744859 single base substitution G A upstream_gene_variant COCA-CN 16 50745546 50745546 single base substitution T A downstream_gene_variant COCA-CN 16 50745546 50745546 single base substitution T A missense_variant V575D 1724T>A COCA-CN 16 50745546 50745546 single base substitution T A upstream_gene_variant COCA-CN 16 50746192 50746192 single base substitution G A downstream_gene_variant COCA-CN 16 50746192 50746192 single base substitution G A exon_variant COCA-CN 16 50746192 50746192 single base substitution G A synonymous_variant R29R 87G>A COCA-CN 16 50746192 50746192 single base substitution G A synonymous_variant R790R 2370G>A COCA-CN 16 50756652 50756652 single base substitution G A intron_variant COCA-CN 16 50759444 50759444 single base substitution C T downstream_gene_variant COCA-CN 16 50759444 50759444 single base substitution C T missense_variant A976V 2927C>T COCA-CN 16 50759547 50759547 single base substitution A T downstream_gene_variant COCA-CN 16 50759547 50759547 single base substitution A T intron_variant COCA-CN 16 50763764 50763764 single base substitution A G missense_variant E1001G 3002A>G COCA-CN 16 50763847 50763847 single base substitution G A intron_variant EOPC-DE 16 50760257 50760257 single base substitution C T downstream_gene_variant EOPC-DE 16 50760257 50760257 single base substitution C T intron_variant ESAD-UK 16 50723728 50723728 single base substitution C T upstream_gene_variant ESAD-UK 16 50725764 50725764 single base substitution T A upstream_gene_variant ESAD-UK 16 50725967 50725967 single base substitution A C upstream_gene_variant ESAD-UK 16 50727164 50727164 single base substitution G A upstream_gene_variant ESAD-UK 16 50727639 50727639 single base substitution C A intron_variant ESAD-UK 16 50727639 50727639 single base substitution C A upstream_gene_variant ESAD-UK 16 50727930 50727930 single base substitution C T intron_variant ESAD-UK 16 50727930 50727930 single base substitution C T upstream_gene_variant ESAD-UK 16 50729032 50729032 single base substitution G C intron_variant ESAD-UK 16 50729032 50729032 single base substitution G C upstream_gene_variant ESAD-UK 16 50729082 50729082 single base substitution G A intron_variant ESAD-UK 16 50729082 50729082 single base substitution G A upstream_gene_variant ESAD-UK 16 50729171 50729171 deletion of <=200bp A - intron_variant ESAD-UK 16 50729171 50729171 deletion of <=200bp A - upstream_gene_variant ESAD-UK 16 50729701 50729701 single base substitution G A intron_variant ESAD-UK 16 50729701 50729701 single base substitution G A upstream_gene_variant ESAD-UK 16 50731034 50731034 single base substitution C T intron_variant ESAD-UK 16 50731034 50731034 single base substitution C T upstream_gene_variant ESAD-UK 16 50733030 50733030 single base substitution C T intron_variant ESAD-UK 16 50733209 50733209 single base substitution G A intron_variant ESAD-UK 16 50733640 50733640 single base substitution G A 3_prime_UTR_variant ESAD-UK 16 50733640 50733640 single base substitution G A exon_variant ESAD-UK 16 50733640 50733640 single base substitution G A synonymous_variant A105A 315G>A ESAD-UK 16 50733640 50733640 single base substitution G A synonymous_variant A78A 234G>A ESAD-UK 16 50735699 50735699 single base substitution A C downstream_gene_variant ESAD-UK 16 50735699 50735699 single base substitution A C intron_variant ESAD-UK 16 50737234 50737234 single base substitution A T downstream_gene_variant ESAD-UK 16 50737234 50737234 single base substitution A T intron_variant ESAD-UK 16 50737669 50737669 single base substitution A C downstream_gene_variant ESAD-UK 16 50737669 50737669 single base substitution A C intron_variant ESAD-UK 16 50737885 50737885 single base substitution C A downstream_gene_variant ESAD-UK 16 50737885 50737885 single base substitution C A intron_variant ESAD-UK 16 50738067 50738067 single base substitution G A downstream_gene_variant ESAD-UK 16 50738067 50738067 single base substitution G A intron_variant ESAD-UK 16 50738616 50738616 single base substitution A T downstream_gene_variant ESAD-UK 16 50738616 50738616 single base substitution A T intron_variant ESAD-UK 16 50738619 50738619 single base substitution G C downstream_gene_variant ESAD-UK 16 50738619 50738619 single base substitution G C intron_variant ESAD-UK 16 50738653 50738653 single base substitution T G downstream_gene_variant ESAD-UK 16 50738653 50738653 single base substitution T G intron_variant ESAD-UK 16 50739374 50739374 single base substitution T C intron_variant ESAD-UK 16 50739739 50739739 single base substitution A G intron_variant ESAD-UK 16 50739997 50739997 single base substitution A C intron_variant ESAD-UK 16 50740164 50740164 single base substitution T C intron_variant ESAD-UK 16 50740870 50740870 single base substitution A C intron_variant ESAD-UK 16 50741384 50741384 single base substitution A C intron_variant ESAD-UK 16 50741384 50741384 single base substitution A C upstream_gene_variant ESAD-UK 16 50743090 50743090 single base substitution T G intron_variant ESAD-UK 16 50743090 50743090 single base substitution T G upstream_gene_variant ESAD-UK 16 50743108 50743108 single base substitution T G intron_variant ESAD-UK 16 50743108 50743108 single base substitution T G upstream_gene_variant ESAD-UK 16 50743449 50743449 single base substitution G A intron_variant ESAD-UK 16 50743449 50743449 single base substitution G A upstream_gene_variant ESAD-UK 16 50745331 50745331 deletion of <=200bp G - downstream_gene_variant ESAD-UK 16 50745331 50745331 deletion of <=200bp G - frameshift_variant E503 ESAD-UK 16 50745331 50745331 deletion of <=200bp G - upstream_gene_variant ESAD-UK 16 50747374 50747374 single base substitution A C downstream_gene_variant ESAD-UK 16 50747374 50747374 single base substitution A C intron_variant ESAD-UK 16 50748880 50748880 single base substitution C T downstream_gene_variant ESAD-UK 16 50748880 50748880 single base substitution C T intron_variant ESAD-UK 16 50749165 50749165 single base substitution C T downstream_gene_variant ESAD-UK 16 50749165 50749165 single base substitution C T intron_variant ESAD-UK 16 50749435 50749435 single base substitution T C downstream_gene_variant ESAD-UK 16 50749435 50749435 single base substitution T C intron_variant ESAD-UK 16 50750036 50750036 single base substitution A G intron_variant ESAD-UK 16 50752403 50752403 single base substitution T G intron_variant ESAD-UK 16 50755278 50755278 single base substitution T G intron_variant ESAD-UK 16 50755355 50755355 deletion of <=200bp T - intron_variant ESAD-UK 16 50756438 50756438 single base substitution C A intron_variant ESAD-UK 16 50757493 50757493 single base substitution T G downstream_gene_variant ESAD-UK 16 50757493 50757493 single base substitution T G intron_variant ESAD-UK 16 50758444 50758444 single base substitution T G downstream_gene_variant ESAD-UK 16 50758444 50758444 single base substitution T G intron_variant ESAD-UK 16 50758481 50758481 single base substitution T C downstream_gene_variant ESAD-UK 16 50758481 50758481 single base substitution T C intron_variant ESAD-UK 16 50758544 50758544 single base substitution A C downstream_gene_variant ESAD-UK 16 50758544 50758544 single base substitution A C intron_variant ESAD-UK 16 50759894 50759894 single base substitution G A downstream_gene_variant ESAD-UK 16 50759894 50759894 single base substitution G A intron_variant ESAD-UK 16 50760180 50760180 single base substitution C A downstream_gene_variant ESAD-UK 16 50760180 50760180 single base substitution C A intron_variant ESAD-UK 16 50761577 50761577 single base substitution T C downstream_gene_variant ESAD-UK 16 50761577 50761577 single base substitution T C intron_variant ESAD-UK 16 50762207 50762207 single base substitution T G downstream_gene_variant ESAD-UK 16 50762207 50762207 single base substitution T G intron_variant ESAD-UK 16 50763055 50763055 single base substitution T G intron_variant ESAD-UK 16 50763847 50763847 single base substitution G A intron_variant ESAD-UK 16 50764751 50764751 single base substitution C T intron_variant ESAD-UK 16 50765208 50765208 single base substitution C A intron_variant ESAD-UK 16 50765361 50765361 single base substitution T C intron_variant ESAD-UK 16 50765514 50765514 single base substitution C T intron_variant ESAD-UK 16 50767406 50767406 single base substitution T G downstream_gene_variant ESAD-UK 16 50769222 50769222 single base substitution C G downstream_gene_variant ESAD-UK 16 50769680 50769680 single base substitution G C downstream_gene_variant ESCA-CN 16 50745107 50745107 single base substitution G A downstream_gene_variant ESCA-CN 16 50745107 50745107 single base substitution G A missense_variant A429T 1285G>A ESCA-CN 16 50745107 50745107 single base substitution G A upstream_gene_variant ESCA-CN 16 50759452 50759452 single base substitution C G downstream_gene_variant ESCA-CN 16 50759452 50759452 single base substitution C G missense_variant L979V 2935C>G GBM-US 16 50731207 50731209 deletion of <=200bp TCC - exon_variant GBM-US 16 50731207 50731209 deletion of <=200bp TCC - inframe_deletion VL18V GBM-US 16 50731207 50731209 deletion of <=200bp TCC - intron_variant GBM-US 16 50733737 50733737 single base substitution C G 3_prime_UTR_variant GBM-US 16 50733737 50733737 single base substitution C G exon_variant GBM-US 16 50733737 50733737 single base substitution C G missense_variant R111G 331C>G GBM-US 16 50733737 50733737 single base substitution C G missense_variant R138G 412C>G GBM-US 16 50745689 50745689 single base substitution C G downstream_gene_variant GBM-US 16 50745689 50745689 single base substitution C G missense_variant P623A 1867C>G GBM-US 16 50745689 50745689 single base substitution C G upstream_gene_variant GBM-US 16 50763750 50763750 single base substitution C T synonymous_variant T996T 2988C>T KIRC-US 16 50733767 50733767 single base substitution C T 3_prime_UTR_variant KIRC-US 16 50733767 50733767 single base substitution C T exon_variant KIRC-US 16 50733767 50733767 single base substitution C T missense_variant H121Y 361C>T KIRC-US 16 50733767 50733767 single base substitution C T missense_variant H148Y 442C>T KIRC-US 16 50745117 50745117 single base substitution C T downstream_gene_variant KIRC-US 16 50745117 50745117 single base substitution C T missense_variant A432V 1295C>T KIRC-US 16 50745117 50745117 single base substitution C T upstream_gene_variant KIRC-US 16 50763736 50763736 single base substitution A T missense_variant N992Y 2974A>T LICA-CN 16 50745856 50745856 single base substitution G C downstream_gene_variant LICA-CN 16 50745856 50745856 single base substitution G C synonymous_variant L678L 2034G>C LICA-CN 16 50745856 50745856 single base substitution G C upstream_gene_variant LICA-FR 16 50722659 50722659 single base substitution C A upstream_gene_variant LICA-FR 16 50733700 50733700 single base substitution C T 3_prime_UTR_variant LICA-FR 16 50733700 50733700 single base substitution C T exon_variant LICA-FR 16 50733700 50733700 single base substitution C T synonymous_variant P125P 375C>T LICA-FR 16 50733700 50733700 single base substitution C T synonymous_variant P98P 294C>T LICA-FR 16 50735596 50735596 single base substitution A G downstream_gene_variant LICA-FR 16 50735596 50735596 single base substitution A G intron_variant LICA-FR 16 50745766 50745766 single base substitution C T downstream_gene_variant LICA-FR 16 50745766 50745766 single base substitution C T synonymous_variant C648C 1944C>T LICA-FR 16 50745766 50745766 single base substitution C T upstream_gene_variant LICA-FR 16 50768649 50768649 deletion of <=200bp A - downstream_gene_variant LIHC-US 16 50744637 50744637 single base substitution G A 3_prime_UTR_variant LIHC-US 16 50744637 50744637 single base substitution G A exon_variant LIHC-US 16 50744637 50744637 single base substitution G A missense_variant S272N 815G>A LIHC-US 16 50744637 50744637 single base substitution G A upstream_gene_variant LIHC-US 16 50744820 50744820 single base substitution G C downstream_gene_variant LIHC-US 16 50744820 50744820 single base substitution G C exon_variant LIHC-US 16 50744820 50744820 single base substitution G C missense_variant C333S 998G>C LIHC-US 16 50744820 50744820 single base substitution G C upstream_gene_variant LIHC-US 16 50745410 50745410 single base substitution T C downstream_gene_variant LIHC-US 16 50745410 50745410 single base substitution T C missense_variant S530P 1588T>C LIHC-US 16 50745410 50745410 single base substitution T C upstream_gene_variant LIHC-US 16 50750836 50750836 single base substitution C T intron_variant LIHC-US 16 50750836 50750836 single base substitution C T missense_variant H861Y 2581C>T LIHM-FR 16 50750861 50750861 single base substitution G T intron_variant LIHM-FR 16 50750861 50750861 single base substitution G T missense_variant C869F 2606G>T LINC-JP 16 50726500 50726500 insertion of <=200bp - TG upstream_gene_variant LINC-JP 16 50729721 50729721 single base substitution T C intron_variant LINC-JP 16 50729721 50729721 single base substitution T C upstream_gene_variant LINC-JP 16 50732651 50732651 single base substitution A G intron_variant LINC-JP 16 50742618 50742618 single base substitution G A intron_variant LINC-JP 16 50742618 50742618 single base substitution G A upstream_gene_variant LINC-JP 16 50744430 50744430 insertion of <=200bp - A intron_variant LINC-JP 16 50744430 50744430 insertion of <=200bp - A upstream_gene_variant LINC-JP 16 50745330 50745330 single base substitution A G downstream_gene_variant LINC-JP 16 50745330 50745330 single base substitution A G missense_variant E503G 1508A>G LINC-JP 16 50745330 50745330 single base substitution A G upstream_gene_variant LINC-JP 16 50745792 50745792 single base substitution G C downstream_gene_variant LINC-JP 16 50745792 50745792 single base substitution G C missense_variant S657T 1970G>C LINC-JP 16 50745792 50745792 single base substitution G C upstream_gene_variant LINC-JP 16 50745918 50745918 single base substitution C T downstream_gene_variant LINC-JP 16 50745918 50745918 single base substitution C T missense_variant A699V 2096C>T LINC-JP 16 50745918 50745918 single base substitution C T upstream_gene_variant LINC-JP 16 50748558 50748558 single base substitution A T downstream_gene_variant LINC-JP 16 50748558 50748558 single base substitution A T intron_variant LINC-JP 16 50753742 50753742 single base substitution G A intron_variant LINC-JP 16 50757050 50757050 single base substitution G A intron_variant LINC-JP 16 50757066 50757066 single base substitution G A intron_variant LINC-JP 16 50759577 50759577 single base substitution A G downstream_gene_variant LINC-JP 16 50759577 50759577 single base substitution A G intron_variant LINC-JP 16 50760536 50760536 single base substitution T G downstream_gene_variant LINC-JP 16 50760536 50760536 single base substitution T G intron_variant LIRI-JP 16 50725855 50725855 single base substitution A G upstream_gene_variant LIRI-JP 16 50729833 50729833 single base substitution G A intron_variant LIRI-JP 16 50729833 50729833 single base substitution G A upstream_gene_variant LIRI-JP 16 50729998 50729998 single base substitution G T intron_variant LIRI-JP 16 50729998 50729998 single base substitution G T upstream_gene_variant LIRI-JP 16 50732883 50732883 single base substitution G T intron_variant LIRI-JP 16 50733014 50733014 single base substitution T C intron_variant LIRI-JP 16 50735912 50735912 single base substitution A T downstream_gene_variant LIRI-JP 16 50735912 50735912 single base substitution A T intron_variant LIRI-JP 16 50736143 50736143 single base substitution C G downstream_gene_variant LIRI-JP 16 50736143 50736143 single base substitution C G intron_variant LIRI-JP 16 50736702 50736702 single base substitution C A downstream_gene_variant LIRI-JP 16 50736702 50736702 single base substitution C A intron_variant LIRI-JP 16 50737370 50737370 single base substitution G A downstream_gene_variant LIRI-JP 16 50737370 50737370 single base substitution G A intron_variant LIRI-JP 16 50740577 50740577 single base substitution A T intron_variant LIRI-JP 16 50741598 50741598 single base substitution T A intron_variant LIRI-JP 16 50741598 50741598 single base substitution T A upstream_gene_variant LIRI-JP 16 50742563 50742563 single base substitution A G intron_variant LIRI-JP 16 50742563 50742563 single base substitution A G upstream_gene_variant LIRI-JP 16 50742626 50742626 single base substitution G A intron_variant LIRI-JP 16 50742626 50742626 single base substitution G A upstream_gene_variant LIRI-JP 16 50746205 50746205 single base substitution C T downstream_gene_variant LIRI-JP 16 50746205 50746205 single base substitution C T exon_variant LIRI-JP 16 50746205 50746205 single base substitution C T synonymous_variant L34L 100C>T LIRI-JP 16 50746205 50746205 single base substitution C T synonymous_variant L795L 2383C>T LIRI-JP 16 50746480 50746480 single base substitution C G 3_prime_UTR_variant LIRI-JP 16 50746480 50746480 single base substitution C G downstream_gene_variant LIRI-JP 16 50746480 50746480 single base substitution C G intron_variant LIRI-JP 16 50748356 50748356 single base substitution T G downstream_gene_variant LIRI-JP 16 50748356 50748356 single base substitution T G intron_variant LIRI-JP 16 50748426 50748426 single base substitution C A downstream_gene_variant LIRI-JP 16 50748426 50748426 single base substitution C A intron_variant LIRI-JP 16 50749750 50749750 single base substitution T G downstream_gene_variant LIRI-JP 16 50749750 50749750 single base substitution T G intron_variant LIRI-JP 16 50751879 50751879 single base substitution C A intron_variant LIRI-JP 16 50757260 50757260 single base substitution G C 3_prime_UTR_variant LIRI-JP 16 50757260 50757260 single base substitution G C synonymous_variant L160L 480G>C LIRI-JP 16 50757260 50757260 single base substitution G C synonymous_variant L949L 2847G>C LIRI-JP 16 50761938 50761938 single base substitution C T downstream_gene_variant LIRI-JP 16 50761938 50761938 single base substitution C T intron_variant LIRI-JP 16 50763323 50763323 single base substitution T C intron_variant LIRI-JP 16 50766364 50766364 single base substitution C T 3_prime_UTR_variant LIRI-JP 16 50766954 50766954 single base substitution A G 3_prime_UTR_variant LIRI-JP 16 50770093 50770093 single base substitution G T downstream_gene_variant LIRI-JP 16 50770173 50770173 single base substitution G A downstream_gene_variant LIRI-JP 16 50770668 50770668 single base substitution C T downstream_gene_variant LIRI-JP 16 50771093 50771093 single base substitution G A downstream_gene_variant LIRI-JP 16 50771700 50771700 single base substitution G A downstream_gene_variant LUSC-KR 16 50727151 50727151 single base substitution G A upstream_gene_variant LUSC-KR 16 50728404 50728404 single base substitution T A intron_variant LUSC-KR 16 50728404 50728404 single base substitution T A upstream_gene_variant LUSC-KR 16 50728784 50728784 single base substitution G A intron_variant LUSC-KR 16 50728784 50728784 single base substitution G A upstream_gene_variant LUSC-KR 16 50734460 50734460 single base substitution C T downstream_gene_variant LUSC-KR 16 50734460 50734460 single base substitution C T intron_variant LUSC-KR 16 50734545 50734545 single base substitution C T downstream_gene_variant LUSC-KR 16 50734545 50734545 single base substitution C T intron_variant LUSC-KR 16 50735135 50735135 single base substitution T A downstream_gene_variant LUSC-KR 16 50735135 50735135 single base substitution T A intron_variant LUSC-KR 16 50736722 50736722 single base substitution C T downstream_gene_variant LUSC-KR 16 50736722 50736722 single base substitution C T intron_variant LUSC-KR 16 50738874 50738874 single base substitution T A intron_variant LUSC-KR 16 50743635 50743635 single base substitution G A intron_variant LUSC-KR 16 50743635 50743635 single base substitution G A upstream_gene_variant LUSC-KR 16 50745404 50745404 single base substitution C T downstream_gene_variant LUSC-KR 16 50745404 50745404 single base substitution C T missense_variant P528S 1582C>T LUSC-KR 16 50745404 50745404 single base substitution C T upstream_gene_variant LUSC-KR 16 50747149 50747149 single base substitution A T downstream_gene_variant LUSC-KR 16 50747149 50747149 single base substitution A T intron_variant LUSC-KR 16 50747705 50747705 single base substitution G T downstream_gene_variant LUSC-KR 16 50747705 50747705 single base substitution G T intron_variant LUSC-KR 16 50751131 50751131 single base substitution G A intron_variant LUSC-KR 16 50752767 50752767 single base substitution G T intron_variant LUSC-KR 16 50754496 50754496 single base substitution A T intron_variant LUSC-KR 16 50755519 50755519 single base substitution T C intron_variant LUSC-KR 16 50756523 50756523 single base substitution G C intron_variant LUSC-KR 16 50756641 50756641 single base substitution G A intron_variant LUSC-KR 16 50757387 50757387 single base substitution C A downstream_gene_variant LUSC-KR 16 50757387 50757387 single base substitution C A intron_variant LUSC-KR 16 50758095 50758095 single base substitution C T downstream_gene_variant LUSC-KR 16 50758095 50758095 single base substitution C T intron_variant LUSC-KR 16 50761070 50761070 single base substitution T G downstream_gene_variant LUSC-KR 16 50761070 50761070 single base substitution T G intron_variant LUSC-KR 16 50763184 50763184 single base substitution A T intron_variant LUSC-KR 16 50766544 50766544 single base substitution C T 3_prime_UTR_variant LUSC-US 16 50733863 50733863 single base substitution A T downstream_gene_variant LUSC-US 16 50733863 50733863 single base substitution A T missense_variant R180W 538A>T LUSC-US 16 50733863 50733863 single base substitution A T splice_region_variant LUSC-US 16 50741806 50741806 single base substitution G C 3_prime_UTR_variant LUSC-US 16 50741806 50741806 single base substitution G C exon_variant LUSC-US 16 50741806 50741806 single base substitution G C intron_variant LUSC-US 16 50741806 50741806 single base substitution G C missense_variant G194A 581G>C LUSC-US 16 50741806 50741806 single base substitution G C upstream_gene_variant LUSC-US 16 50744674 50744674 single base substitution C T 3_prime_UTR_variant LUSC-US 16 50744674 50744674 single base substitution C T exon_variant LUSC-US 16 50744674 50744674 single base substitution C T synonymous_variant T284T 852C>T LUSC-US 16 50744674 50744674 single base substitution C T upstream_gene_variant LUSC-US 16 50744691 50744691 single base substitution A T 3_prime_UTR_variant LUSC-US 16 50744691 50744691 single base substitution A T exon_variant LUSC-US 16 50744691 50744691 single base substitution A T missense_variant D290V 869A>T LUSC-US 16 50744691 50744691 single base substitution A T upstream_gene_variant LUSC-US 16 50744941 50744941 single base substitution T A downstream_gene_variant LUSC-US 16 50744941 50744941 single base substitution T A synonymous_variant R373R 1119T>A LUSC-US 16 50744941 50744941 single base substitution T A upstream_gene_variant LUSC-US 16 50745180 50745180 single base substitution A G downstream_gene_variant LUSC-US 16 50745180 50745180 single base substitution A G missense_variant E453G 1358A>G LUSC-US 16 50745180 50745180 single base substitution A G upstream_gene_variant LUSC-US 16 50745311 50745311 single base substitution C A downstream_gene_variant LUSC-US 16 50745311 50745311 single base substitution C A missense_variant Q497K 1489C>A LUSC-US 16 50745311 50745311 single base substitution C A upstream_gene_variant LUSC-US 16 50745378 50745378 single base substitution A C downstream_gene_variant LUSC-US 16 50745378 50745378 single base substitution A C missense_variant Q519P 1556A>C LUSC-US 16 50745378 50745378 single base substitution A C upstream_gene_variant LUSC-US 16 50745449 50745449 single base substitution C T downstream_gene_variant LUSC-US 16 50745449 50745449 single base substitution C T missense_variant R543C 1627C>T LUSC-US 16 50745449 50745449 single base substitution C T upstream_gene_variant LUSC-US 16 50745745 50745745 single base substitution C A downstream_gene_variant LUSC-US 16 50745745 50745745 single base substitution C A synonymous_variant A641A 1923C>A LUSC-US 16 50745745 50745745 single base substitution C A upstream_gene_variant LUSC-US 16 50745778 50745778 single base substitution G A downstream_gene_variant LUSC-US 16 50745778 50745778 single base substitution G A synonymous_variant S652S 1956G>A LUSC-US 16 50745778 50745778 single base substitution G A upstream_gene_variant LUSC-US 16 50746191 50746191 single base substitution G T downstream_gene_variant LUSC-US 16 50746191 50746191 single base substitution G T exon_variant LUSC-US 16 50746191 50746191 single base substitution G T missense_variant R29L 86G>T LUSC-US 16 50746191 50746191 single base substitution G T missense_variant R790L 2369G>T LUSC-US 16 50756589 50756589 single base substitution G T 3_prime_UTR_variant LUSC-US 16 50756589 50756589 single base substitution G T missense_variant G135V 404G>T LUSC-US 16 50756589 50756589 single base substitution G T missense_variant G924V 2771G>T LUSC-US 16 50759418 50759418 single base substitution C A downstream_gene_variant LUSC-US 16 50759418 50759418 single base substitution C A synonymous_variant L967L 2901C>A LUSC-US 16 50759418 50759418 single base substitution C G downstream_gene_variant LUSC-US 16 50759418 50759418 single base substitution C G synonymous_variant L967L 2901C>G LUSC-US 16 50759419 50759419 single base substitution C T downstream_gene_variant LUSC-US 16 50759419 50759419 single base substitution C T stop_gained Q968* 2902C>T MALY-DE 16 50726764 50726765 deletion of <=200bp GT - upstream_gene_variant MALY-DE 16 50733065 50733065 single base substitution C T intron_variant MALY-DE 16 50736023 50736023 deletion of <=200bp T - downstream_gene_variant MALY-DE 16 50736023 50736023 deletion of <=200bp T - intron_variant MALY-DE 16 50740699 50740699 single base substitution C T intron_variant MALY-DE 16 50745244 50745244 single base substitution A G downstream_gene_variant MALY-DE 16 50745244 50745244 single base substitution A G synonymous_variant Q474Q 1422A>G MALY-DE 16 50745244 50745244 single base substitution A G upstream_gene_variant MELA-AU 16 50722539 50722539 single base substitution C T upstream_gene_variant MELA-AU 16 50722807 50722807 single base substitution C T upstream_gene_variant MELA-AU 16 50722980 50722980 single base substitution C T upstream_gene_variant MELA-AU 16 50723260 50723260 single base substitution C T upstream_gene_variant MELA-AU 16 50723331 50723331 single base substitution G T upstream_gene_variant MELA-AU 16 50723360 50723360 single base substitution C T upstream_gene_variant MELA-AU 16 50724053 50724053 single base substitution C T upstream_gene_variant MELA-AU 16 50724319 50724319 single base substitution C A upstream_gene_variant MELA-AU 16 50724486 50724486 single base substitution C T upstream_gene_variant MELA-AU 16 50724753 50724753 single base substitution G A upstream_gene_variant MELA-AU 16 50724762 50724762 single base substitution G C upstream_gene_variant MELA-AU 16 50725266 50725266 single base substitution G A upstream_gene_variant MELA-AU 16 50725554 50725554 single base substitution C T upstream_gene_variant MELA-AU 16 50725681 50725681 single base substitution G A upstream_gene_variant MELA-AU 16 50725690 50725690 single base substitution G A upstream_gene_variant MELA-AU 16 50725713 50725713 single base substitution G A upstream_gene_variant MELA-AU 16 50726057 50726057 single base substitution G T upstream_gene_variant MELA-AU 16 50726182 50726182 single base substitution C T upstream_gene_variant MELA-AU 16 50726319 50726319 single base substitution A T upstream_gene_variant MELA-AU 16 50726419 50726419 single base substitution G A upstream_gene_variant MELA-AU 16 50727587 50727587 single base substitution C T intron_variant MELA-AU 16 50727587 50727587 single base substitution C T upstream_gene_variant MELA-AU 16 50727715 50727715 single base substitution G A intron_variant MELA-AU 16 50727715 50727715 single base substitution G A upstream_gene_variant MELA-AU 16 50727740 50727740 deletion of <=200bp G - intron_variant MELA-AU 16 50727740 50727740 deletion of <=200bp G - upstream_gene_variant MELA-AU 16 50728110 50728110 single base substitution C T intron_variant MELA-AU 16 50728110 50728110 single base substitution C T upstream_gene_variant MELA-AU 16 50728236 50728237 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 50728236 50728237 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 50728695 50728695 single base substitution G A intron_variant MELA-AU 16 50728695 50728695 single base substitution G A upstream_gene_variant MELA-AU 16 50728749 50728749 single base substitution G A intron_variant MELA-AU 16 50728749 50728749 single base substitution G A upstream_gene_variant MELA-AU 16 50729079 50729079 single base substitution G A intron_variant MELA-AU 16 50729079 50729079 single base substitution G A upstream_gene_variant MELA-AU 16 50729657 50729657 single base substitution G A intron_variant MELA-AU 16 50729657 50729657 single base substitution G A upstream_gene_variant MELA-AU 16 50729959 50729959 single base substitution G A intron_variant MELA-AU 16 50729959 50729959 single base substitution G A upstream_gene_variant MELA-AU 16 50730040 50730040 single base substitution G A intron_variant MELA-AU 16 50730040 50730040 single base substitution G A upstream_gene_variant MELA-AU 16 50730242 50730242 single base substitution C T intron_variant MELA-AU 16 50730242 50730242 single base substitution C T upstream_gene_variant MELA-AU 16 50730255 50730255 single base substitution G A 5_prime_UTR_variant MELA-AU 16 50730255 50730255 single base substitution G A intron_variant MELA-AU 16 50730255 50730255 single base substitution G A upstream_gene_variant MELA-AU 16 50730847 50730847 single base substitution G A intron_variant MELA-AU 16 50730847 50730847 single base substitution G A upstream_gene_variant MELA-AU 16 50731136 50731136 single base substitution C T 5_prime_UTR_variant MELA-AU 16 50731136 50731136 single base substitution C T exon_variant MELA-AU 16 50731136 50731136 single base substitution C T intron_variant MELA-AU 16 50731403 50731403 single base substitution G A 3_prime_UTR_variant MELA-AU 16 50731403 50731403 single base substitution G A intron_variant MELA-AU 16 50731611 50731611 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50731611 50731611 single base substitution C T intron_variant MELA-AU 16 50731630 50731630 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50731630 50731630 single base substitution C T intron_variant MELA-AU 16 50732160 50732160 single base substitution C T intron_variant MELA-AU 16 50733451 50733451 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50733451 50733451 single base substitution C T exon_variant MELA-AU 16 50733451 50733451 single base substitution C T synonymous_variant V15V 45C>T MELA-AU 16 50733451 50733451 single base substitution C T synonymous_variant V42V 126C>T MELA-AU 16 50733564 50733564 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50733564 50733564 single base substitution C T exon_variant MELA-AU 16 50733564 50733564 single base substitution C T missense_variant P53L 158C>T MELA-AU 16 50733564 50733564 single base substitution C T missense_variant P80L 239C>T MELA-AU 16 50733570 50733570 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50733570 50733570 single base substitution C T exon_variant MELA-AU 16 50733570 50733570 single base substitution C T missense_variant S55F 164C>T MELA-AU 16 50733570 50733570 single base substitution C T missense_variant S82F 245C>T MELA-AU 16 50733902 50733902 single base substitution G A downstream_gene_variant MELA-AU 16 50733902 50733902 single base substitution G A intron_variant MELA-AU 16 50734339 50734339 single base substitution G A downstream_gene_variant MELA-AU 16 50734339 50734339 single base substitution G A intron_variant MELA-AU 16 50734415 50734415 single base substitution C T downstream_gene_variant MELA-AU 16 50734415 50734415 single base substitution C T intron_variant MELA-AU 16 50734581 50734581 single base substitution T C downstream_gene_variant MELA-AU 16 50734581 50734581 single base substitution T C intron_variant MELA-AU 16 50734585 50734585 single base substitution A G downstream_gene_variant MELA-AU 16 50734585 50734585 single base substitution A G intron_variant MELA-AU 16 50734816 50734816 single base substitution C T downstream_gene_variant MELA-AU 16 50734816 50734816 single base substitution C T intron_variant MELA-AU 16 50736071 50736071 single base substitution C T downstream_gene_variant MELA-AU 16 50736071 50736071 single base substitution C T intron_variant MELA-AU 16 50736146 50736146 single base substitution A T downstream_gene_variant MELA-AU 16 50736146 50736146 single base substitution A T intron_variant MELA-AU 16 50736382 50736382 single base substitution C T downstream_gene_variant MELA-AU 16 50736382 50736382 single base substitution C T intron_variant MELA-AU 16 50736404 50736404 single base substitution C T downstream_gene_variant MELA-AU 16 50736404 50736404 single base substitution C T intron_variant MELA-AU 16 50736751 50736751 single base substitution C T downstream_gene_variant MELA-AU 16 50736751 50736751 single base substitution C T intron_variant MELA-AU 16 50736777 50736777 single base substitution C T downstream_gene_variant MELA-AU 16 50736777 50736777 single base substitution C T intron_variant MELA-AU 16 50736796 50736796 single base substitution C T downstream_gene_variant MELA-AU 16 50736796 50736796 single base substitution C T intron_variant MELA-AU 16 50737022 50737022 single base substitution C T downstream_gene_variant MELA-AU 16 50737022 50737022 single base substitution C T intron_variant MELA-AU 16 50737326 50737326 single base substitution G A downstream_gene_variant MELA-AU 16 50737326 50737326 single base substitution G A intron_variant MELA-AU 16 50737464 50737464 single base substitution C T downstream_gene_variant MELA-AU 16 50737464 50737464 single base substitution C T intron_variant MELA-AU 16 50737549 50737549 single base substitution C T downstream_gene_variant MELA-AU 16 50737549 50737549 single base substitution C T intron_variant MELA-AU 16 50737700 50737700 single base substitution C T downstream_gene_variant MELA-AU 16 50737700 50737700 single base substitution C T intron_variant MELA-AU 16 50737988 50737988 single base substitution G A downstream_gene_variant MELA-AU 16 50737988 50737988 single base substitution G A intron_variant MELA-AU 16 50738220 50738220 single base substitution G A downstream_gene_variant MELA-AU 16 50738220 50738220 single base substitution G A intron_variant MELA-AU 16 50738247 50738247 single base substitution C T downstream_gene_variant MELA-AU 16 50738247 50738247 single base substitution C T intron_variant MELA-AU 16 50738316 50738316 single base substitution C T downstream_gene_variant MELA-AU 16 50738316 50738316 single base substitution C T intron_variant MELA-AU 16 50738374 50738374 single base substitution C T downstream_gene_variant MELA-AU 16 50738374 50738374 single base substitution C T intron_variant MELA-AU 16 50738680 50738680 single base substitution C T downstream_gene_variant MELA-AU 16 50738680 50738680 single base substitution C T intron_variant MELA-AU 16 50738699 50738699 single base substitution G A downstream_gene_variant MELA-AU 16 50738699 50738699 single base substitution G A intron_variant MELA-AU 16 50738749 50738749 single base substitution C G downstream_gene_variant MELA-AU 16 50738749 50738749 single base substitution C G intron_variant MELA-AU 16 50738749 50738749 single base substitution C T downstream_gene_variant MELA-AU 16 50738749 50738749 single base substitution C T intron_variant MELA-AU 16 50738781 50738782 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 50738781 50738782 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 50738914 50738914 single base substitution C T intron_variant MELA-AU 16 50739004 50739004 single base substitution C T intron_variant MELA-AU 16 50739074 50739074 single base substitution C T intron_variant MELA-AU 16 50739104 50739104 single base substitution G A intron_variant MELA-AU 16 50739254 50739254 single base substitution C T intron_variant MELA-AU 16 50739265 50739265 single base substitution C T intron_variant MELA-AU 16 50739487 50739487 single base substitution G A intron_variant MELA-AU 16 50739546 50739546 single base substitution C T intron_variant MELA-AU 16 50739850 50739850 single base substitution G A intron_variant MELA-AU 16 50739968 50739968 single base substitution T C intron_variant MELA-AU 16 50740015 50740015 single base substitution G A intron_variant MELA-AU 16 50740157 50740157 single base substitution G A intron_variant MELA-AU 16 50740247 50740247 single base substitution G A intron_variant MELA-AU 16 50740560 50740560 single base substitution C T intron_variant MELA-AU 16 50740847 50740847 single base substitution G A intron_variant MELA-AU 16 50740879 50740879 single base substitution G A intron_variant MELA-AU 16 50741136 50741136 single base substitution A T intron_variant MELA-AU 16 50741136 50741136 single base substitution A T upstream_gene_variant MELA-AU 16 50741414 50741414 single base substitution C T intron_variant MELA-AU 16 50741414 50741414 single base substitution C T upstream_gene_variant MELA-AU 16 50741461 50741461 single base substitution G A intron_variant MELA-AU 16 50741461 50741461 single base substitution G A upstream_gene_variant MELA-AU 16 50741920 50741920 single base substitution G A intron_variant MELA-AU 16 50741920 50741920 single base substitution G A upstream_gene_variant MELA-AU 16 50741997 50741997 single base substitution C T intron_variant MELA-AU 16 50741997 50741997 single base substitution C T upstream_gene_variant MELA-AU 16 50741998 50741998 single base substitution C A intron_variant MELA-AU 16 50741998 50741998 single base substitution C A upstream_gene_variant MELA-AU 16 50742408 50742409 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 16 50742408 50742409 multiple base substitution (>=2bp and <=200bp) CA AC upstream_gene_variant MELA-AU 16 50742466 50742466 single base substitution G A intron_variant MELA-AU 16 50742466 50742466 single base substitution G A upstream_gene_variant MELA-AU 16 50742540 50742540 single base substitution G A intron_variant MELA-AU 16 50742540 50742540 single base substitution G A upstream_gene_variant MELA-AU 16 50742578 50742578 single base substitution G A intron_variant MELA-AU 16 50742578 50742578 single base substitution G A upstream_gene_variant MELA-AU 16 50742598 50742598 single base substitution C T intron_variant MELA-AU 16 50742598 50742598 single base substitution C T upstream_gene_variant MELA-AU 16 50742691 50742691 single base substitution C T intron_variant MELA-AU 16 50742691 50742691 single base substitution C T upstream_gene_variant MELA-AU 16 50742774 50742774 single base substitution G A intron_variant MELA-AU 16 50742774 50742774 single base substitution G A upstream_gene_variant MELA-AU 16 50743448 50743448 single base substitution C T intron_variant MELA-AU 16 50743448 50743448 single base substitution C T upstream_gene_variant MELA-AU 16 50743455 50743455 single base substitution G A intron_variant MELA-AU 16 50743455 50743455 single base substitution G A upstream_gene_variant MELA-AU 16 50743486 50743486 single base substitution G A intron_variant MELA-AU 16 50743486 50743486 single base substitution G A upstream_gene_variant MELA-AU 16 50743506 50743506 single base substitution G A intron_variant MELA-AU 16 50743506 50743506 single base substitution G A upstream_gene_variant MELA-AU 16 50743585 50743585 single base substitution C T intron_variant MELA-AU 16 50743585 50743585 single base substitution C T upstream_gene_variant MELA-AU 16 50744016 50744016 single base substitution G A intron_variant MELA-AU 16 50744016 50744016 single base substitution G A upstream_gene_variant MELA-AU 16 50744276 50744276 single base substitution G A intron_variant MELA-AU 16 50744276 50744276 single base substitution G A upstream_gene_variant MELA-AU 16 50744299 50744299 single base substitution C T intron_variant MELA-AU 16 50744299 50744299 single base substitution C T upstream_gene_variant MELA-AU 16 50744311 50744311 single base substitution C T intron_variant MELA-AU 16 50744311 50744311 single base substitution C T upstream_gene_variant MELA-AU 16 50744546 50744546 single base substitution G A 3_prime_UTR_variant MELA-AU 16 50744546 50744546 single base substitution G A exon_variant MELA-AU 16 50744546 50744546 single base substitution G A missense_variant G242R 724G>A MELA-AU 16 50744546 50744546 single base substitution G A upstream_gene_variant MELA-AU 16 50744547 50744547 single base substitution G A 3_prime_UTR_variant MELA-AU 16 50744547 50744547 single base substitution G A exon_variant MELA-AU 16 50744547 50744547 single base substitution G A missense_variant G242E 725G>A MELA-AU 16 50744547 50744547 single base substitution G A upstream_gene_variant MELA-AU 16 50744743 50744743 single base substitution G C downstream_gene_variant MELA-AU 16 50744743 50744743 single base substitution G C exon_variant MELA-AU 16 50744743 50744743 single base substitution G C synonymous_variant T307T 921G>C MELA-AU 16 50744743 50744743 single base substitution G C upstream_gene_variant MELA-AU 16 50744825 50744825 single base substitution C T downstream_gene_variant MELA-AU 16 50744825 50744825 single base substitution C T exon_variant MELA-AU 16 50744825 50744825 single base substitution C T stop_gained Q335* 1003C>T MELA-AU 16 50744825 50744825 single base substitution C T upstream_gene_variant MELA-AU 16 50744939 50744939 single base substitution C T downstream_gene_variant MELA-AU 16 50744939 50744939 single base substitution C T missense_variant R373C 1117C>T MELA-AU 16 50744939 50744939 single base substitution C T upstream_gene_variant MELA-AU 16 50744998 50744998 single base substitution A G downstream_gene_variant MELA-AU 16 50744998 50744998 single base substitution A G synonymous_variant E392E 1176A>G MELA-AU 16 50744998 50744998 single base substitution A G upstream_gene_variant MELA-AU 16 50745157 50745157 single base substitution G A downstream_gene_variant MELA-AU 16 50745157 50745157 single base substitution G A synonymous_variant K445K 1335G>A MELA-AU 16 50745157 50745157 single base substitution G A upstream_gene_variant MELA-AU 16 50745158 50745158 single base substitution G A downstream_gene_variant MELA-AU 16 50745158 50745158 single base substitution G A missense_variant G446S 1336G>A MELA-AU 16 50745158 50745158 single base substitution G A upstream_gene_variant MELA-AU 16 50745329 50745329 single base substitution G A downstream_gene_variant MELA-AU 16 50745329 50745329 single base substitution G A missense_variant E503K 1507G>A MELA-AU 16 50745329 50745329 single base substitution G A upstream_gene_variant MELA-AU 16 50745339 50745340 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 50745339 50745340 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S506F 1517CC>TT MELA-AU 16 50745339 50745340 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 50745443 50745443 single base substitution C T downstream_gene_variant MELA-AU 16 50745443 50745443 single base substitution C T missense_variant R541W 1621C>T MELA-AU 16 50745443 50745443 single base substitution C T upstream_gene_variant MELA-AU 16 50745455 50745455 single base substitution C T downstream_gene_variant MELA-AU 16 50745455 50745455 single base substitution C T missense_variant P545S 1633C>T MELA-AU 16 50745455 50745455 single base substitution C T upstream_gene_variant MELA-AU 16 50745782 50745782 single base substitution G A downstream_gene_variant MELA-AU 16 50745782 50745782 single base substitution G A missense_variant G654R 1960G>A MELA-AU 16 50745782 50745782 single base substitution G A upstream_gene_variant MELA-AU 16 50745918 50745919 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 50745918 50745919 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A699V 2096CC>TT MELA-AU 16 50745918 50745919 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 50746204 50746204 single base substitution C T downstream_gene_variant MELA-AU 16 50746204 50746204 single base substitution C T exon_variant MELA-AU 16 50746204 50746204 single base substitution C T synonymous_variant A33A 99C>T MELA-AU 16 50746204 50746204 single base substitution C T synonymous_variant A794A 2382C>T MELA-AU 16 50746270 50746270 single base substitution C T downstream_gene_variant MELA-AU 16 50746270 50746270 single base substitution C T exon_variant MELA-AU 16 50746270 50746270 single base substitution C T synonymous_variant V55V 165C>T MELA-AU 16 50746270 50746270 single base substitution C T synonymous_variant V816V 2448C>T MELA-AU 16 50746344 50746344 single base substitution G A 3_prime_UTR_variant MELA-AU 16 50746344 50746344 single base substitution G A downstream_gene_variant MELA-AU 16 50746344 50746344 single base substitution G A intron_variant MELA-AU 16 50746436 50746436 single base substitution T C 3_prime_UTR_variant MELA-AU 16 50746436 50746436 single base substitution T C downstream_gene_variant MELA-AU 16 50746436 50746436 single base substitution T C intron_variant MELA-AU 16 50746578 50746578 single base substitution C T downstream_gene_variant MELA-AU 16 50746578 50746578 single base substitution C T intron_variant MELA-AU 16 50746617 50746617 single base substitution G A downstream_gene_variant MELA-AU 16 50746617 50746617 single base substitution G A intron_variant MELA-AU 16 50746754 50746754 single base substitution C T downstream_gene_variant MELA-AU 16 50746754 50746754 single base substitution C T intron_variant MELA-AU 16 50747090 50747090 single base substitution G A downstream_gene_variant MELA-AU 16 50747090 50747090 single base substitution G A intron_variant MELA-AU 16 50747127 50747127 single base substitution G A downstream_gene_variant MELA-AU 16 50747127 50747127 single base substitution G A intron_variant MELA-AU 16 50748067 50748067 single base substitution C T downstream_gene_variant MELA-AU 16 50748067 50748067 single base substitution C T intron_variant MELA-AU 16 50749192 50749192 single base substitution A G downstream_gene_variant MELA-AU 16 50749192 50749192 single base substitution A G intron_variant MELA-AU 16 50749359 50749359 single base substitution T C downstream_gene_variant MELA-AU 16 50749359 50749359 single base substitution T C intron_variant MELA-AU 16 50749396 50749396 single base substitution C T downstream_gene_variant MELA-AU 16 50749396 50749396 single base substitution C T intron_variant MELA-AU 16 50749543 50749543 single base substitution G A downstream_gene_variant MELA-AU 16 50749543 50749543 single base substitution G A intron_variant MELA-AU 16 50749596 50749596 single base substitution G A downstream_gene_variant MELA-AU 16 50749596 50749596 single base substitution G A intron_variant MELA-AU 16 50749631 50749631 single base substitution C T downstream_gene_variant MELA-AU 16 50749631 50749631 single base substitution C T intron_variant MELA-AU 16 50749918 50749918 single base substitution C T intron_variant MELA-AU 16 50750084 50750084 single base substitution G T intron_variant MELA-AU 16 50750156 50750156 single base substitution C T intron_variant MELA-AU 16 50750195 50750195 single base substitution C T intron_variant MELA-AU 16 50750257 50750257 single base substitution T C intron_variant MELA-AU 16 50750375 50750375 single base substitution G A intron_variant MELA-AU 16 50750381 50750381 single base substitution C T intron_variant MELA-AU 16 50750901 50750901 single base substitution C T intron_variant MELA-AU 16 50751050 50751050 single base substitution C T intron_variant MELA-AU 16 50751140 50751140 single base substitution C T intron_variant MELA-AU 16 50752534 50752534 single base substitution C T intron_variant MELA-AU 16 50752582 50752582 single base substitution C T intron_variant MELA-AU 16 50752838 50752838 single base substitution G A intron_variant MELA-AU 16 50752885 50752885 single base substitution G A intron_variant MELA-AU 16 50753099 50753099 single base substitution G A intron_variant MELA-AU 16 50753322 50753322 single base substitution C T intron_variant MELA-AU 16 50753331 50753331 single base substitution C T intron_variant MELA-AU 16 50753349 50753349 single base substitution C T intron_variant MELA-AU 16 50753358 50753358 single base substitution C T intron_variant MELA-AU 16 50753550 50753550 single base substitution C T intron_variant MELA-AU 16 50753652 50753652 single base substitution G A intron_variant MELA-AU 16 50753653 50753653 single base substitution G A intron_variant MELA-AU 16 50753784 50753784 single base substitution C T intron_variant MELA-AU 16 50753914 50753914 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50753914 50753914 single base substitution C T intron_variant MELA-AU 16 50753914 50753914 single base substitution C T synonymous_variant F114F 342C>T MELA-AU 16 50753914 50753914 single base substitution C T synonymous_variant F903F 2709C>T MELA-AU 16 50754383 50754383 single base substitution G A intron_variant MELA-AU 16 50754481 50754482 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 50754484 50754484 single base substitution A G intron_variant MELA-AU 16 50755204 50755204 single base substitution C T intron_variant MELA-AU 16 50755279 50755279 single base substitution T A intron_variant MELA-AU 16 50755285 50755285 single base substitution T G intron_variant MELA-AU 16 50755352 50755352 single base substitution G A intron_variant MELA-AU 16 50755389 50755389 single base substitution A C intron_variant MELA-AU 16 50755652 50755652 single base substitution C T intron_variant MELA-AU 16 50755891 50755891 single base substitution C T intron_variant MELA-AU 16 50756121 50756121 single base substitution G A intron_variant MELA-AU 16 50756213 50756213 single base substitution C T intron_variant MELA-AU 16 50756587 50756587 single base substitution G A 3_prime_UTR_variant MELA-AU 16 50756587 50756587 single base substitution G A synonymous_variant L134L 402G>A MELA-AU 16 50756587 50756587 single base substitution G A synonymous_variant L923L 2769G>A MELA-AU 16 50756588 50756588 single base substitution G A 3_prime_UTR_variant MELA-AU 16 50756588 50756588 single base substitution G A missense_variant G135S 403G>A MELA-AU 16 50756588 50756588 single base substitution G A missense_variant G924S 2770G>A MELA-AU 16 50756591 50756591 single base substitution G A 3_prime_UTR_variant MELA-AU 16 50756591 50756591 single base substitution G A missense_variant D136N 406G>A MELA-AU 16 50756591 50756591 single base substitution G A missense_variant D925N 2773G>A MELA-AU 16 50756665 50756665 single base substitution G A intron_variant MELA-AU 16 50756809 50756809 single base substitution C T intron_variant MELA-AU 16 50756810 50756810 single base substitution C T intron_variant MELA-AU 16 50757138 50757138 single base substitution T C intron_variant MELA-AU 16 50757149 50757149 single base substitution G A intron_variant MELA-AU 16 50757319 50757319 single base substitution C T downstream_gene_variant MELA-AU 16 50757319 50757319 single base substitution C T intron_variant MELA-AU 16 50757604 50757604 single base substitution T A downstream_gene_variant MELA-AU 16 50757604 50757604 single base substitution T A intron_variant MELA-AU 16 50757661 50757661 single base substitution A G downstream_gene_variant MELA-AU 16 50757661 50757661 single base substitution A G intron_variant MELA-AU 16 50757882 50757882 single base substitution C T downstream_gene_variant MELA-AU 16 50757882 50757882 single base substitution C T intron_variant MELA-AU 16 50757919 50757919 single base substitution G A downstream_gene_variant MELA-AU 16 50757919 50757919 single base substitution G A intron_variant MELA-AU 16 50758725 50758725 single base substitution G A downstream_gene_variant MELA-AU 16 50758725 50758725 single base substitution G A intron_variant MELA-AU 16 50758785 50758785 single base substitution C G downstream_gene_variant MELA-AU 16 50758785 50758785 single base substitution C G intron_variant MELA-AU 16 50758930 50758930 single base substitution G A downstream_gene_variant MELA-AU 16 50758930 50758930 single base substitution G A intron_variant MELA-AU 16 50759004 50759004 single base substitution C T downstream_gene_variant MELA-AU 16 50759004 50759004 single base substitution C T intron_variant MELA-AU 16 50759127 50759127 single base substitution G A downstream_gene_variant MELA-AU 16 50759127 50759127 single base substitution G A intron_variant MELA-AU 16 50759187 50759187 single base substitution C T downstream_gene_variant MELA-AU 16 50759187 50759187 single base substitution C T intron_variant MELA-AU 16 50759320 50759320 single base substitution C T downstream_gene_variant MELA-AU 16 50759320 50759320 single base substitution C T intron_variant MELA-AU 16 50759753 50759753 single base substitution G A downstream_gene_variant MELA-AU 16 50759753 50759753 single base substitution G A intron_variant MELA-AU 16 50760131 50760131 single base substitution T G downstream_gene_variant MELA-AU 16 50760131 50760131 single base substitution T G intron_variant MELA-AU 16 50760751 50760751 single base substitution T C downstream_gene_variant MELA-AU 16 50760751 50760751 single base substitution T C intron_variant MELA-AU 16 50760988 50760988 single base substitution T C downstream_gene_variant MELA-AU 16 50760988 50760988 single base substitution T C intron_variant MELA-AU 16 50761138 50761138 single base substitution C T downstream_gene_variant MELA-AU 16 50761138 50761138 single base substitution C T intron_variant MELA-AU 16 50761341 50761341 single base substitution C A downstream_gene_variant MELA-AU 16 50761341 50761341 single base substitution C A intron_variant MELA-AU 16 50761495 50761495 single base substitution C T downstream_gene_variant MELA-AU 16 50761495 50761495 single base substitution C T intron_variant MELA-AU 16 50761669 50761669 single base substitution A T downstream_gene_variant MELA-AU 16 50761669 50761669 single base substitution A T intron_variant MELA-AU 16 50761685 50761685 single base substitution T C downstream_gene_variant MELA-AU 16 50761685 50761685 single base substitution T C intron_variant MELA-AU 16 50761820 50761820 single base substitution G A downstream_gene_variant MELA-AU 16 50761820 50761820 single base substitution G A intron_variant MELA-AU 16 50761908 50761908 single base substitution C T downstream_gene_variant MELA-AU 16 50761908 50761908 single base substitution C T intron_variant MELA-AU 16 50762195 50762195 single base substitution C T downstream_gene_variant MELA-AU 16 50762195 50762195 single base substitution C T intron_variant MELA-AU 16 50762305 50762305 single base substitution G A intron_variant MELA-AU 16 50762489 50762489 single base substitution G A intron_variant MELA-AU 16 50762602 50762602 single base substitution C T intron_variant MELA-AU 16 50762619 50762619 single base substitution G A intron_variant MELA-AU 16 50762696 50762696 single base substitution T A intron_variant MELA-AU 16 50762851 50762851 single base substitution C T intron_variant MELA-AU 16 50763076 50763076 single base substitution G A intron_variant MELA-AU 16 50763198 50763198 single base substitution T G intron_variant MELA-AU 16 50763284 50763284 single base substitution G A intron_variant MELA-AU 16 50763692 50763692 single base substitution G C intron_variant MELA-AU 16 50763733 50763733 single base substitution T C missense_variant S991P 2971T>C MELA-AU 16 50763901 50763919 deletion of <=200bp ATTTTGAGGATCCCTTCTG - intron_variant MELA-AU 16 50763917 50763917 single base substitution C T intron_variant MELA-AU 16 50763972 50763972 single base substitution C T intron_variant MELA-AU 16 50764125 50764125 single base substitution G A intron_variant MELA-AU 16 50764760 50764760 single base substitution C T intron_variant MELA-AU 16 50764803 50764803 single base substitution A C intron_variant MELA-AU 16 50764963 50764963 single base substitution C T intron_variant MELA-AU 16 50765052 50765052 single base substitution G A intron_variant MELA-AU 16 50765134 50765134 single base substitution C T intron_variant MELA-AU 16 50766226 50766226 single base substitution T C 3_prime_UTR_variant MELA-AU 16 50766237 50766237 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50766311 50766311 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50766347 50766347 single base substitution G A 3_prime_UTR_variant MELA-AU 16 50766739 50766739 single base substitution A T 3_prime_UTR_variant MELA-AU 16 50767055 50767055 single base substitution C T downstream_gene_variant MELA-AU 16 50767893 50767893 single base substitution A T downstream_gene_variant MELA-AU 16 50767896 50767896 single base substitution T C downstream_gene_variant MELA-AU 16 50767904 50767904 single base substitution C T downstream_gene_variant MELA-AU 16 50768047 50768047 single base substitution G T downstream_gene_variant MELA-AU 16 50768370 50768370 single base substitution C T downstream_gene_variant MELA-AU 16 50768446 50768446 single base substitution C T downstream_gene_variant MELA-AU 16 50768468 50768468 single base substitution G A downstream_gene_variant MELA-AU 16 50768475 50768475 single base substitution C T downstream_gene_variant MELA-AU 16 50768617 50768617 single base substitution C T downstream_gene_variant MELA-AU 16 50768694 50768694 single base substitution G A downstream_gene_variant MELA-AU 16 50768890 50768890 single base substitution C T downstream_gene_variant MELA-AU 16 50768891 50768891 single base substitution C T downstream_gene_variant MELA-AU 16 50768942 50768942 single base substitution G A downstream_gene_variant MELA-AU 16 50769190 50769190 single base substitution C T downstream_gene_variant MELA-AU 16 50769467 50769467 single base substitution G A downstream_gene_variant MELA-AU 16 50769700 50769700 single base substitution G A downstream_gene_variant MELA-AU 16 50769717 50769717 single base substitution G A downstream_gene_variant MELA-AU 16 50769718 50769718 single base substitution G A downstream_gene_variant MELA-AU 16 50769772 50769772 single base substitution G A downstream_gene_variant MELA-AU 16 50769795 50769795 single base substitution G A downstream_gene_variant MELA-AU 16 50769942 50769942 single base substitution G A downstream_gene_variant MELA-AU 16 50770038 50770038 single base substitution G A downstream_gene_variant MELA-AU 16 50770126 50770126 single base substitution G A downstream_gene_variant MELA-AU 16 50770276 50770276 single base substitution G C downstream_gene_variant MELA-AU 16 50770372 50770372 single base substitution C T downstream_gene_variant MELA-AU 16 50770586 50770586 single base substitution G A downstream_gene_variant MELA-AU 16 50770598 50770598 single base substitution C T downstream_gene_variant MELA-AU 16 50770642 50770642 single base substitution G A downstream_gene_variant MELA-AU 16 50770675 50770675 single base substitution C T downstream_gene_variant MELA-AU 16 50770717 50770717 single base substitution C T downstream_gene_variant MELA-AU 16 50770719 50770719 single base substitution C T downstream_gene_variant MELA-AU 16 50770945 50770945 single base substitution G A downstream_gene_variant MELA-AU 16 50771599 50771599 single base substitution G A downstream_gene_variant MELA-AU 16 50771620 50771620 single base substitution G A downstream_gene_variant MELA-AU 16 50771754 50771754 single base substitution G A downstream_gene_variant MELA-AU 16 50771778 50771778 single base substitution C T downstream_gene_variant ORCA-IN 16 50726671 50726671 single base substitution G A upstream_gene_variant ORCA-IN 16 50734252 50734252 single base substitution C G downstream_gene_variant ORCA-IN 16 50734252 50734252 single base substitution C G intron_variant ORCA-IN 16 50745912 50745912 single base substitution A T downstream_gene_variant ORCA-IN 16 50745912 50745912 single base substitution A T missense_variant E697V 2090A>T ORCA-IN 16 50745912 50745912 single base substitution A T upstream_gene_variant ORCA-IN 16 50759268 50759268 single base substitution C A downstream_gene_variant ORCA-IN 16 50759268 50759268 single base substitution C A intron_variant OV-AU 16 50729898 50729898 single base substitution C T intron_variant OV-AU 16 50729898 50729898 single base substitution C T upstream_gene_variant OV-AU 16 50734405 50734405 single base substitution G T downstream_gene_variant OV-AU 16 50734405 50734405 single base substitution G T intron_variant OV-AU 16 50738449 50738449 single base substitution T A downstream_gene_variant OV-AU 16 50738449 50738449 single base substitution T A intron_variant OV-AU 16 50741508 50741508 single base substitution C G intron_variant OV-AU 16 50741508 50741508 single base substitution C G upstream_gene_variant OV-AU 16 50742479 50742479 single base substitution G T intron_variant OV-AU 16 50742479 50742479 single base substitution G T upstream_gene_variant OV-AU 16 50742808 50742808 single base substitution G T intron_variant OV-AU 16 50742808 50742808 single base substitution G T upstream_gene_variant OV-AU 16 50745401 50745401 single base substitution C G downstream_gene_variant OV-AU 16 50745401 50745401 single base substitution C G missense_variant P527A 1579C>G OV-AU 16 50745401 50745401 single base substitution C G upstream_gene_variant OV-AU 16 50752271 50752271 single base substitution A G intron_variant OV-AU 16 50754872 50754872 single base substitution C T intron_variant OV-AU 16 50757178 50757178 single base substitution C G intron_variant OV-AU 16 50760827 50760827 single base substitution G T downstream_gene_variant OV-AU 16 50760827 50760827 single base substitution G T intron_variant OV-AU 16 50766284 50766284 single base substitution A G 3_prime_UTR_variant OV-US 16 50745533 50745533 single base substitution C T downstream_gene_variant OV-US 16 50745533 50745533 single base substitution C T stop_gained Q571* 1711C>T OV-US 16 50745533 50745533 single base substitution C T upstream_gene_variant PACA-AU 16 50728778 50728778 single base substitution G A intron_variant PACA-AU 16 50728778 50728778 single base substitution G A upstream_gene_variant PACA-AU 16 50729306 50729306 single base substitution C T intron_variant PACA-AU 16 50729306 50729306 single base substitution C T upstream_gene_variant PACA-AU 16 50732065 50732065 single base substitution C T intron_variant PACA-AU 16 50733734 50733734 single base substitution C T 3_prime_UTR_variant PACA-AU 16 50733734 50733734 single base substitution C T exon_variant PACA-AU 16 50733734 50733734 single base substitution C T missense_variant H110Y 328C>T PACA-AU 16 50733734 50733734 single base substitution C T missense_variant H137Y 409C>T PACA-AU 16 50736454 50736454 single base substitution C A downstream_gene_variant PACA-AU 16 50736454 50736454 single base substitution C A intron_variant PACA-AU 16 50737123 50737123 single base substitution G C downstream_gene_variant PACA-AU 16 50737123 50737123 single base substitution G C intron_variant PACA-AU 16 50739050 50739050 single base substitution C T intron_variant PACA-AU 16 50742667 50742667 single base substitution G T intron_variant PACA-AU 16 50742667 50742667 single base substitution G T upstream_gene_variant PACA-AU 16 50745013 50745013 single base substitution G A downstream_gene_variant PACA-AU 16 50745013 50745013 single base substitution G A synonymous_variant P397P 1191G>A PACA-AU 16 50745013 50745013 single base substitution G A upstream_gene_variant PACA-AU 16 50746019 50746019 single base substitution G A downstream_gene_variant PACA-AU 16 50746019 50746019 single base substitution G A missense_variant V733M 2197G>A PACA-AU 16 50746019 50746019 single base substitution G A upstream_gene_variant PACA-AU 16 50746089 50746089 single base substitution G A downstream_gene_variant PACA-AU 16 50746089 50746089 single base substitution G A missense_variant R756Q 2267G>A PACA-AU 16 50746089 50746089 single base substitution G A upstream_gene_variant PACA-AU 16 50747705 50747705 single base substitution G A downstream_gene_variant PACA-AU 16 50747705 50747705 single base substitution G A intron_variant PACA-AU 16 50749116 50749116 single base substitution T A downstream_gene_variant PACA-AU 16 50749116 50749116 single base substitution T A intron_variant PACA-AU 16 50753308 50753318 deletion of <=200bp CTTGCTGGGAT - intron_variant PACA-AU 16 50753627 50753627 single base substitution C G intron_variant PACA-AU 16 50755326 50755326 single base substitution T G intron_variant PACA-AU 16 50756632 50756632 single base substitution T C intron_variant PACA-AU 16 50763846 50763846 single base substitution C T intron_variant PACA-AU 16 50768111 50768111 single base substitution G C downstream_gene_variant PACA-CA 16 50724489 50724489 single base substitution G A upstream_gene_variant PACA-CA 16 50726459 50726459 single base substitution G T upstream_gene_variant PACA-CA 16 50726730 50726730 single base substitution G T upstream_gene_variant PACA-CA 16 50731751 50731751 single base substitution A G 3_prime_UTR_variant PACA-CA 16 50731751 50731751 single base substitution A G intron_variant PACA-CA 16 50733722 50733722 single base substitution G A 3_prime_UTR_variant PACA-CA 16 50733722 50733722 single base substitution G A exon_variant PACA-CA 16 50733722 50733722 single base substitution G A missense_variant D106N 316G>A PACA-CA 16 50733722 50733722 single base substitution G A missense_variant D133N 397G>A PACA-CA 16 50734775 50734775 single base substitution T C downstream_gene_variant PACA-CA 16 50734775 50734775 single base substitution T C intron_variant PACA-CA 16 50736362 50736362 single base substitution G A downstream_gene_variant PACA-CA 16 50736362 50736362 single base substitution G A intron_variant PACA-CA 16 50736655 50736655 single base substitution T C downstream_gene_variant PACA-CA 16 50736655 50736655 single base substitution T C intron_variant PACA-CA 16 50737893 50737893 single base substitution T A downstream_gene_variant PACA-CA 16 50737893 50737893 single base substitution T A intron_variant PACA-CA 16 50738020 50738020 single base substitution T C downstream_gene_variant PACA-CA 16 50738020 50738020 single base substitution T C intron_variant PACA-CA 16 50742014 50742026 deletion of <=200bp CACCACCCCGTCT - intron_variant PACA-CA 16 50742014 50742026 deletion of <=200bp CACCACCCCGTCT - upstream_gene_variant PACA-CA 16 50743545 50743545 single base substitution C T intron_variant PACA-CA 16 50743545 50743545 single base substitution C T upstream_gene_variant PACA-CA 16 50744000 50744000 single base substitution G A intron_variant PACA-CA 16 50744000 50744000 single base substitution G A upstream_gene_variant PACA-CA 16 50745330 50745330 insertion of <=200bp - G downstream_gene_variant PACA-CA 16 50745330 50745330 insertion of <=200bp - G frameshift_variant E503G? PACA-CA 16 50745330 50745330 insertion of <=200bp - G upstream_gene_variant PACA-CA 16 50746052 50746052 single base substitution C T downstream_gene_variant PACA-CA 16 50746052 50746052 single base substitution C T missense_variant R744W 2230C>T PACA-CA 16 50746052 50746052 single base substitution C T upstream_gene_variant PACA-CA 16 50746717 50746717 single base substitution T C downstream_gene_variant PACA-CA 16 50746717 50746717 single base substitution T C intron_variant PACA-CA 16 50747296 50747296 single base substitution C G downstream_gene_variant PACA-CA 16 50747296 50747296 single base substitution C G intron_variant PACA-CA 16 50747335 50747335 single base substitution G T downstream_gene_variant PACA-CA 16 50747335 50747335 single base substitution G T intron_variant PACA-CA 16 50750531 50750531 single base substitution C A intron_variant PACA-CA 16 50750531 50750531 single base substitution C A synonymous_variant I71I 213C>A PACA-CA 16 50750531 50750531 single base substitution C A synonymous_variant I832I 2496C>A PACA-CA 16 50751489 50751489 insertion of <=200bp - A intron_variant PACA-CA 16 50751637 50751650 deletion of <=200bp GTACAAAGGACTCA - intron_variant PACA-CA 16 50751987 50751987 insertion of <=200bp - ATGTGA intron_variant PACA-CA 16 50752127 50752137 deletion of <=200bp CTAGCGCTGGG - intron_variant PACA-CA 16 50755285 50755285 single base substitution T G intron_variant PACA-CA 16 50757788 50757788 insertion of <=200bp - CTG downstream_gene_variant PACA-CA 16 50757788 50757788 insertion of <=200bp - CTG intron_variant PACA-CA 16 50760298 50760298 single base substitution G T downstream_gene_variant PACA-CA 16 50760298 50760298 single base substitution G T intron_variant PACA-CA 16 50761088 50761088 deletion of <=200bp A - downstream_gene_variant PACA-CA 16 50761088 50761088 deletion of <=200bp A - intron_variant PACA-CA 16 50761384 50761384 single base substitution G T downstream_gene_variant PACA-CA 16 50761384 50761384 single base substitution G T intron_variant PACA-CA 16 50767300 50767300 single base substitution C T downstream_gene_variant PACA-CA 16 50768439 50768439 single base substitution G A downstream_gene_variant PAEN-AU 16 50727777 50727777 single base substitution C T intron_variant PAEN-AU 16 50727777 50727777 single base substitution C T upstream_gene_variant PAEN-AU 16 50729691 50729691 single base substitution C A intron_variant PAEN-AU 16 50729691 50729691 single base substitution C A upstream_gene_variant PAEN-AU 16 50737464 50737464 single base substitution C T downstream_gene_variant PAEN-AU 16 50737464 50737464 single base substitution C T intron_variant PAEN-AU 16 50752997 50752997 single base substitution G A intron_variant PAEN-AU 16 50764032 50764032 single base substitution C T intron_variant PBCA-DE 16 50726451 50726452 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 16 50726948 50726949 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 16 50735951 50735956 deletion of <=200bp GGCTGA - downstream_gene_variant PBCA-DE 16 50735951 50735956 deletion of <=200bp GGCTGA - intron_variant PBCA-DE 16 50737784 50737784 single base substitution G T downstream_gene_variant PBCA-DE 16 50737784 50737784 single base substitution G T intron_variant PBCA-DE 16 50739376 50739376 single base substitution C T intron_variant PBCA-DE 16 50755712 50755712 insertion of <=200bp - T intron_variant PBCA-DE 16 50764404 50764404 single base substitution T C intron_variant PRAD-CA 16 50725178 50725178 single base substitution G A upstream_gene_variant PRAD-CA 16 50731520 50731520 single base substitution C A 3_prime_UTR_variant PRAD-CA 16 50731520 50731520 single base substitution C A intron_variant PRAD-CA 16 50738457 50738457 single base substitution C T downstream_gene_variant PRAD-CA 16 50738457 50738457 single base substitution C T intron_variant PRAD-CA 16 50740308 50740308 single base substitution A C intron_variant PRAD-CA 16 50746864 50746864 single base substitution T G downstream_gene_variant PRAD-CA 16 50746864 50746864 single base substitution T G intron_variant PRAD-UK 16 50725826 50725826 single base substitution G A upstream_gene_variant PRAD-UK 16 50726323 50726323 single base substitution C A upstream_gene_variant PRAD-UK 16 50733126 50733126 single base substitution G A intron_variant PRAD-UK 16 50738436 50738436 single base substitution C T downstream_gene_variant PRAD-UK 16 50738436 50738436 single base substitution C T intron_variant PRAD-UK 16 50739558 50739558 single base substitution C A intron_variant PRAD-UK 16 50751768 50751768 single base substitution G A intron_variant PRAD-UK 16 50755466 50755466 single base substitution C T intron_variant PRAD-UK 16 50761865 50761865 single base substitution C A downstream_gene_variant PRAD-UK 16 50761865 50761865 single base substitution C A intron_variant PRAD-UK 16 50765096 50765096 deletion of <=200bp G - intron_variant PRAD-US 16 50745558 50745558 single base substitution A G downstream_gene_variant PRAD-US 16 50745558 50745558 single base substitution A G missense_variant D579G 1736A>G PRAD-US 16 50745558 50745558 single base substitution A G upstream_gene_variant READ-US 16 50733484 50733484 single base substitution C T 3_prime_UTR_variant READ-US 16 50733484 50733484 single base substitution C T exon_variant READ-US 16 50733484 50733484 single base substitution C T synonymous_variant F26F 78C>T READ-US 16 50733484 50733484 single base substitution C T synonymous_variant F53F 159C>T READ-US 16 50745472 50745472 single base substitution G A downstream_gene_variant READ-US 16 50745472 50745472 single base substitution G A synonymous_variant L550L 1650G>A READ-US 16 50745472 50745472 single base substitution G A upstream_gene_variant READ-US 16 50745482 50745482 single base substitution G A downstream_gene_variant READ-US 16 50745482 50745482 single base substitution G A missense_variant A554T 1660G>A READ-US 16 50745482 50745482 single base substitution G A upstream_gene_variant RECA-EU 16 50724811 50724811 single base substitution C A upstream_gene_variant RECA-EU 16 50724812 50724812 single base substitution G A upstream_gene_variant RECA-EU 16 50730066 50730066 single base substitution C T intron_variant RECA-EU 16 50730066 50730066 single base substitution C T upstream_gene_variant RECA-EU 16 50733321 50733321 single base substitution G A intron_variant RECA-EU 16 50733957 50733957 single base substitution G A downstream_gene_variant RECA-EU 16 50733957 50733957 single base substitution G A intron_variant RECA-EU 16 50739974 50739974 single base substitution C G intron_variant RECA-EU 16 50746961 50746961 single base substitution T A downstream_gene_variant RECA-EU 16 50746961 50746961 single base substitution T A intron_variant RECA-EU 16 50753242 50753242 single base substitution G T intron_variant RECA-EU 16 50761822 50761822 single base substitution A C downstream_gene_variant RECA-EU 16 50761822 50761822 single base substitution A C intron_variant RECA-EU 16 50764649 50764649 single base substitution C T intron_variant SKCA-BR 16 50724092 50724092 single base substitution T C upstream_gene_variant SKCA-BR 16 50724174 50724174 single base substitution C A upstream_gene_variant SKCA-BR 16 50725800 50725800 single base substitution C T upstream_gene_variant SKCA-BR 16 50726483 50726483 insertion of <=200bp - CGTGT upstream_gene_variant SKCA-BR 16 50726484 50726499 deletion of <=200bp GTGTGTTGGGAAGCGA - upstream_gene_variant SKCA-BR 16 50727376 50727376 insertion of <=200bp - CGCTGCGGGGCTGCGGG upstream_gene_variant SKCA-BR 16 50728566 50728566 single base substitution C T intron_variant SKCA-BR 16 50728566 50728566 single base substitution C T upstream_gene_variant SKCA-BR 16 50731756 50731756 single base substitution G A 3_prime_UTR_variant SKCA-BR 16 50731756 50731756 single base substitution G A intron_variant SKCA-BR 16 50732651 50732651 single base substitution A G intron_variant SKCA-BR 16 50739074 50739074 single base substitution C T intron_variant SKCA-BR 16 50739582 50739582 single base substitution C G intron_variant SKCA-BR 16 50740574 50740574 single base substitution G A intron_variant SKCA-BR 16 50740630 50740630 single base substitution C T intron_variant SKCA-BR 16 50741000 50741000 single base substitution C T intron_variant SKCA-BR 16 50743022 50743022 single base substitution C T intron_variant SKCA-BR 16 50743022 50743022 single base substitution C T upstream_gene_variant SKCA-BR 16 50743302 50743302 single base substitution A G intron_variant SKCA-BR 16 50743302 50743302 single base substitution A G upstream_gene_variant SKCA-BR 16 50744291 50744291 single base substitution G A intron_variant SKCA-BR 16 50744291 50744291 single base substitution G A upstream_gene_variant SKCA-BR 16 50745780 50745780 single base substitution A G downstream_gene_variant SKCA-BR 16 50745780 50745780 single base substitution A G missense_variant E653G 1958A>G SKCA-BR 16 50745780 50745780 single base substitution A G upstream_gene_variant SKCA-BR 16 50750717 50750717 single base substitution C T intron_variant SKCA-BR 16 50751028 50751028 single base substitution G A intron_variant SKCA-BR 16 50752576 50752576 single base substitution T G intron_variant SKCA-BR 16 50753653 50753653 single base substitution G A intron_variant SKCA-BR 16 50755288 50755289 deletion of <=200bp TG - intron_variant SKCA-BR 16 50755352 50755352 single base substitution G A intron_variant SKCA-BR 16 50756765 50756765 single base substitution G A intron_variant SKCA-BR 16 50757876 50757876 single base substitution T C downstream_gene_variant SKCA-BR 16 50757876 50757876 single base substitution T C intron_variant SKCA-BR 16 50758737 50758737 single base substitution C T downstream_gene_variant SKCA-BR 16 50758737 50758737 single base substitution C T intron_variant SKCA-BR 16 50758922 50758922 single base substitution C T downstream_gene_variant SKCA-BR 16 50758922 50758922 single base substitution C T intron_variant SKCA-BR 16 50759267 50759268 deletion of <=200bp AC - downstream_gene_variant SKCA-BR 16 50759267 50759268 deletion of <=200bp AC - intron_variant SKCA-BR 16 50759269 50759269 single base substitution T A downstream_gene_variant SKCA-BR 16 50759269 50759269 single base substitution T A intron_variant SKCA-BR 16 50759980 50759980 single base substitution A C downstream_gene_variant SKCA-BR 16 50759980 50759980 single base substitution A C intron_variant SKCA-BR 16 50760536 50760536 single base substitution T G downstream_gene_variant SKCA-BR 16 50760536 50760536 single base substitution T G intron_variant SKCA-BR 16 50760728 50760728 single base substitution C T downstream_gene_variant SKCA-BR 16 50760728 50760728 single base substitution C T intron_variant SKCA-BR 16 50761049 50761049 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 16 50761049 50761049 insertion of <=200bp - CA intron_variant SKCA-BR 16 50761079 50761079 single base substitution T A downstream_gene_variant SKCA-BR 16 50761079 50761079 single base substitution T A intron_variant SKCA-BR 16 50764764 50764764 single base substitution C A intron_variant SKCM-US 16 50733414 50733414 single base substitution C T 3_prime_UTR_variant SKCM-US 16 50733414 50733414 single base substitution C T exon_variant SKCM-US 16 50733414 50733414 single base substitution C T missense_variant S30L 89C>T SKCM-US 16 50733414 50733414 single base substitution C T missense_variant S3L 8C>T SKCM-US 16 50733428 50733428 single base substitution C T 3_prime_UTR_variant SKCM-US 16 50733428 50733428 single base substitution C T exon_variant SKCM-US 16 50733428 50733428 single base substitution C T stop_gained Q35* 103C>T SKCM-US 16 50733428 50733428 single base substitution C T stop_gained Q8* 22C>T SKCM-US 16 50733542 50733542 single base substitution G A 3_prime_UTR_variant SKCM-US 16 50733542 50733542 single base substitution G A exon_variant SKCM-US 16 50733542 50733542 single base substitution G A missense_variant G46S 136G>A SKCM-US 16 50733542 50733542 single base substitution G A missense_variant G73S 217G>A SKCM-US 16 50733553 50733553 single base substitution C T 3_prime_UTR_variant SKCM-US 16 50733553 50733553 single base substitution C T exon_variant SKCM-US 16 50733553 50733553 single base substitution C T synonymous_variant L49L 147C>T SKCM-US 16 50733553 50733553 single base substitution C T synonymous_variant L76L 228C>T SKCM-US 16 50733554 50733554 single base substitution C T 3_prime_UTR_variant SKCM-US 16 50733554 50733554 single base substitution C T exon_variant SKCM-US 16 50733554 50733554 single base substitution C T synonymous_variant L50L 148C>T SKCM-US 16 50733554 50733554 single base substitution C T synonymous_variant L77L 229C>T SKCM-US 16 50733668 50733668 single base substitution C T 3_prime_UTR_variant SKCM-US 16 50733668 50733668 single base substitution C T exon_variant SKCM-US 16 50733668 50733668 single base substitution C T stop_gained Q115* 343C>T SKCM-US 16 50733668 50733668 single base substitution C T stop_gained Q88* 262C>T SKCM-US 16 50733833 50733833 single base substitution A T 3_prime_UTR_variant SKCM-US 16 50733833 50733833 single base substitution A T exon_variant SKCM-US 16 50733833 50733833 single base substitution A T missense_variant I143F 427A>T SKCM-US 16 50733833 50733833 single base substitution A T missense_variant I170F 508A>T SKCM-US 16 50733855 50733855 single base substitution C T 3_prime_UTR_variant SKCM-US 16 50733855 50733855 single base substitution C T downstream_gene_variant SKCM-US 16 50733855 50733855 single base substitution C T exon_variant SKCM-US 16 50733855 50733855 single base substitution C T missense_variant P177L 530C>T SKCM-US 16 50741774 50741774 single base substitution G A 3_prime_UTR_variant SKCM-US 16 50741774 50741774 single base substitution G A exon_variant SKCM-US 16 50741774 50741774 single base substitution G A intron_variant SKCM-US 16 50741774 50741774 single base substitution G A synonymous_variant R183R 549G>A SKCM-US 16 50741774 50741774 single base substitution G A upstream_gene_variant SKCM-US 16 50744591 50744591 single base substitution C T 3_prime_UTR_variant SKCM-US 16 50744591 50744591 single base substitution C T exon_variant SKCM-US 16 50744591 50744591 single base substitution C T synonymous_variant L257L 769C>T SKCM-US 16 50744591 50744591 single base substitution C T upstream_gene_variant SKCM-US 16 50744602 50744602 single base substitution G A 3_prime_UTR_variant SKCM-US 16 50744602 50744602 single base substitution G A exon_variant SKCM-US 16 50744602 50744602 single base substitution G A stop_gained W260* 780G>A SKCM-US 16 50744602 50744602 single base substitution G A upstream_gene_variant SKCM-US 16 50744693 50744693 single base substitution G A 3_prime_UTR_variant SKCM-US 16 50744693 50744693 single base substitution G A exon_variant SKCM-US 16 50744693 50744693 single base substitution G A missense_variant D291N 871G>A SKCM-US 16 50744693 50744693 single base substitution G A upstream_gene_variant SKCM-US 16 50744798 50744798 single base substitution C T downstream_gene_variant SKCM-US 16 50744798 50744798 single base substitution C T exon_variant SKCM-US 16 50744798 50744798 single base substitution C T missense_variant L326F 976C>T SKCM-US 16 50744798 50744798 single base substitution C T upstream_gene_variant SKCM-US 16 50744939 50744939 single base substitution C T downstream_gene_variant SKCM-US 16 50744939 50744939 single base substitution C T missense_variant R373C 1117C>T SKCM-US 16 50744939 50744939 single base substitution C T upstream_gene_variant SKCM-US 16 50744969 50744969 single base substitution G A downstream_gene_variant SKCM-US 16 50744969 50744969 single base substitution G A missense_variant E383K 1147G>A SKCM-US 16 50744969 50744969 single base substitution G A upstream_gene_variant SKCM-US 16 50744993 50744993 single base substitution C T downstream_gene_variant SKCM-US 16 50744993 50744993 single base substitution C T missense_variant R391C 1171C>T SKCM-US 16 50744993 50744993 single base substitution C T upstream_gene_variant SKCM-US 16 50745127 50745127 single base substitution G A downstream_gene_variant SKCM-US 16 50745127 50745127 single base substitution G A synonymous_variant R435R 1305G>A SKCM-US 16 50745127 50745127 single base substitution G A upstream_gene_variant SKCM-US 16 50745440 50745440 single base substitution C A downstream_gene_variant SKCM-US 16 50745440 50745440 single base substitution C A missense_variant L540I 1618C>A SKCM-US 16 50745440 50745440 single base substitution C A upstream_gene_variant SKCM-US 16 50745443 50745443 single base substitution C T downstream_gene_variant SKCM-US 16 50745443 50745443 single base substitution C T missense_variant R541W 1621C>T SKCM-US 16 50745443 50745443 single base substitution C T upstream_gene_variant SKCM-US 16 50745455 50745455 single base substitution C T downstream_gene_variant SKCM-US 16 50745455 50745455 single base substitution C T missense_variant P545S 1633C>T SKCM-US 16 50745455 50745455 single base substitution C T upstream_gene_variant SKCM-US 16 50745604 50745604 single base substitution G A downstream_gene_variant SKCM-US 16 50745604 50745604 single base substitution G A synonymous_variant G594G 1782G>A SKCM-US 16 50745604 50745604 single base substitution G A upstream_gene_variant SKCM-US 16 50745620 50745620 single base substitution G A downstream_gene_variant SKCM-US 16 50745620 50745620 single base substitution G A missense_variant E600K 1798G>A SKCM-US 16 50745620 50745620 single base substitution G A upstream_gene_variant SKCM-US 16 50745703 50745703 single base substitution A T downstream_gene_variant SKCM-US 16 50745703 50745703 single base substitution A T missense_variant R627S 1881A>T SKCM-US 16 50745703 50745703 single base substitution A T upstream_gene_variant SKCM-US 16 50745788 50745788 single base substitution G C downstream_gene_variant SKCM-US 16 50745788 50745788 single base substitution G C missense_variant D656H 1966G>C SKCM-US 16 50745788 50745788 single base substitution G C upstream_gene_variant SKCM-US 16 50750524 50750524 single base substitution G A intron_variant SKCM-US 16 50750524 50750524 single base substitution G A missense_variant R69Q 206G>A SKCM-US 16 50750524 50750524 single base substitution G A missense_variant R830Q 2489G>A SKCM-US 16 50753891 50753891 single base substitution C T 3_prime_UTR_variant SKCM-US 16 50753891 50753891 single base substitution C T intron_variant SKCM-US 16 50753891 50753891 single base substitution C T stop_gained R107* 319C>T SKCM-US 16 50753891 50753891 single base substitution C T stop_gained R896* 2686C>T SKCM-US 16 50753905 50753905 single base substitution C T 3_prime_UTR_variant SKCM-US 16 50753905 50753905 single base substitution C T intron_variant SKCM-US 16 50753905 50753905 single base substitution C T synonymous_variant S111S 333C>T SKCM-US 16 50753905 50753905 single base substitution C T synonymous_variant S900S 2700C>T SKCM-US 16 50756563 50756563 single base substitution G A 3_prime_UTR_variant SKCM-US 16 50756563 50756563 single base substitution G A synonymous_variant G126G 378G>A SKCM-US 16 50756563 50756563 single base substitution G A synonymous_variant G915G 2745G>A SKCM-US 16 50756591 50756591 single base substitution G A 3_prime_UTR_variant SKCM-US 16 50756591 50756591 single base substitution G A missense_variant D136N 406G>A SKCM-US 16 50756591 50756591 single base substitution G A missense_variant D925N 2773G>A SKCM-US 16 50757272 50757272 single base substitution G A 3_prime_UTR_variant SKCM-US 16 50757272 50757272 single base substitution G A synonymous_variant K164K 492G>A SKCM-US 16 50757272 50757272 single base substitution G A synonymous_variant K953K 2859G>A SKCM-US 16 50759401 50759401 single base substitution C T downstream_gene_variant SKCM-US 16 50759401 50759401 single base substitution C T splice_region_variant SKCM-US 16 50759472 50759472 single base substitution G A downstream_gene_variant SKCM-US 16 50759472 50759472 single base substitution G A synonymous_variant L985L 2955G>A SKCM-US 16 50763758 50763758 single base substitution G A missense_variant G999E 2996G>A SKCM-US 16 50763788 50763788 single base substitution G A missense_variant R1009K 3026G>A SKCM-US 16 50763802 50763802 single base substitution C T synonymous_variant L1014L 3040C>T SKCM-US 16 50765666 50765666 single base substitution G A missense_variant G1020E 3059G>A SKCM-US 16 50765676 50765676 single base substitution C T synonymous_variant F1023F 3069C>T SKCM-US 16 50765683 50765683 single base substitution G A missense_variant E1026K 3076G>A STAD-US 16 50733415 50733415 single base substitution G A 3_prime_UTR_variant STAD-US 16 50733415 50733415 single base substitution G A exon_variant STAD-US 16 50733415 50733415 single base substitution G A synonymous_variant S30S 90G>A STAD-US 16 50733415 50733415 single base substitution G A synonymous_variant S3S 9G>A STAD-US 16 50744556 50744556 single base substitution C T 3_prime_UTR_variant STAD-US 16 50744556 50744556 single base substitution C T exon_variant STAD-US 16 50744556 50744556 single base substitution C T missense_variant T245M 734C>T STAD-US 16 50744556 50744556 single base substitution C T upstream_gene_variant STAD-US 16 50745284 50745284 single base substitution T C downstream_gene_variant STAD-US 16 50745284 50745284 single base substitution T C missense_variant F488L 1462T>C STAD-US 16 50745284 50745284 single base substitution T C upstream_gene_variant STAD-US 16 50745331 50745331 deletion of <=200bp G - downstream_gene_variant STAD-US 16 50745331 50745331 deletion of <=200bp G - frameshift_variant E503 STAD-US 16 50745331 50745331 deletion of <=200bp G - upstream_gene_variant STAD-US 16 50745609 50745609 single base substitution C T downstream_gene_variant STAD-US 16 50745609 50745609 single base substitution C T missense_variant T596M 1787C>T STAD-US 16 50745609 50745609 single base substitution C T upstream_gene_variant STAD-US 16 50745900 50745900 single base substitution G A downstream_gene_variant STAD-US 16 50745900 50745900 single base substitution G A missense_variant C693Y 2078G>A STAD-US 16 50745900 50745900 single base substitution G A upstream_gene_variant STAD-US 16 50746063 50746063 single base substitution C T downstream_gene_variant STAD-US 16 50746063 50746063 single base substitution C T synonymous_variant Y747Y 2241C>T STAD-US 16 50746063 50746063 single base substitution C T upstream_gene_variant STAD-US 16 50750497 50750497 single base substitution G C intron_variant STAD-US 16 50750497 50750497 single base substitution G C splice_acceptor_variant STAD-US 16 50750503 50750503 single base substitution G A intron_variant STAD-US 16 50750503 50750503 single base substitution G A missense_variant R62H 185G>A STAD-US 16 50750503 50750503 single base substitution G A missense_variant R823H 2468G>A STAD-US 16 50759457 50759457 single base substitution G T downstream_gene_variant STAD-US 16 50759457 50759457 single base substitution G T missense_variant K980N 2940G>T STAD-US 16 50763760 50763760 single base substitution G T missense_variant A1000S 2998G>T THCA-US 16 50759417 50759417 single base substitution T A downstream_gene_variant THCA-US 16 50759417 50759417 single base substitution T A missense_variant L967H 2900T>A UCEC-US 16 50733722 50733722 single base substitution G T 3_prime_UTR_variant UCEC-US 16 50733722 50733722 single base substitution G T exon_variant UCEC-US 16 50733722 50733722 single base substitution G T missense_variant D106Y 316G>T UCEC-US 16 50733722 50733722 single base substitution G T missense_variant D133Y 397G>T UCEC-US 16 50733825 50733825 single base substitution G A 3_prime_UTR_variant UCEC-US 16 50733825 50733825 single base substitution G A exon_variant UCEC-US 16 50733825 50733825 single base substitution G A missense_variant C140Y 419G>A UCEC-US 16 50733825 50733825 single base substitution G A missense_variant C167Y 500G>A UCEC-US 16 50733842 50733842 single base substitution C T 3_prime_UTR_variant UCEC-US 16 50733842 50733842 single base substitution C T exon_variant UCEC-US 16 50733842 50733842 single base substitution C T missense_variant P146S 436C>T UCEC-US 16 50733842 50733842 single base substitution C T missense_variant P173S 517C>T UCEC-US 16 50744482 50744482 single base substitution G A 3_prime_UTR_variant UCEC-US 16 50744482 50744482 single base substitution G A exon_variant UCEC-US 16 50744482 50744482 single base substitution G A synonymous_variant K220K 660G>A UCEC-US 16 50744482 50744482 single base substitution G A upstream_gene_variant UCEC-US 16 50744526 50744526 single base substitution G A 3_prime_UTR_variant UCEC-US 16 50744526 50744526 single base substitution G A exon_variant UCEC-US 16 50744526 50744526 single base substitution G A missense_variant R235H 704G>A UCEC-US 16 50744526 50744526 single base substitution G A upstream_gene_variant UCEC-US 16 50744557 50744557 single base substitution G A 3_prime_UTR_variant UCEC-US 16 50744557 50744557 single base substitution G A exon_variant UCEC-US 16 50744557 50744557 single base substitution G A synonymous_variant T245T 735G>A UCEC-US 16 50744557 50744557 single base substitution G A upstream_gene_variant UCEC-US 16 50744725 50744725 single base substitution G A downstream_gene_variant UCEC-US 16 50744725 50744725 single base substitution G A exon_variant UCEC-US 16 50744725 50744725 single base substitution G A synonymous_variant A301A 903G>A UCEC-US 16 50744725 50744725 single base substitution G A upstream_gene_variant UCEC-US 16 50744744 50744744 single base substitution C T downstream_gene_variant UCEC-US 16 50744744 50744744 single base substitution C T exon_variant UCEC-US 16 50744744 50744744 single base substitution C T missense_variant L308F 922C>T UCEC-US 16 50744744 50744744 single base substitution C T upstream_gene_variant UCEC-US 16 50744798 50744798 single base substitution C A downstream_gene_variant UCEC-US 16 50744798 50744798 single base substitution C A exon_variant UCEC-US 16 50744798 50744798 single base substitution C A missense_variant L326I 976C>A UCEC-US 16 50744798 50744798 single base substitution C A upstream_gene_variant UCEC-US 16 50744871 50744871 single base substitution T G downstream_gene_variant UCEC-US 16 50744871 50744871 single base substitution T G missense_variant F350C 1049T>G UCEC-US 16 50744871 50744871 single base substitution T G upstream_gene_variant UCEC-US 16 50744940 50744940 single base substitution G A downstream_gene_variant UCEC-US 16 50744940 50744940 single base substitution G A missense_variant R373H 1118G>A UCEC-US 16 50744940 50744940 single base substitution G A upstream_gene_variant UCEC-US 16 50745143 50745143 single base substitution G A downstream_gene_variant UCEC-US 16 50745143 50745143 single base substitution G A missense_variant E441K 1321G>A UCEC-US 16 50745143 50745143 single base substitution G A upstream_gene_variant UCEC-US 16 50745323 50745323 single base substitution C T downstream_gene_variant UCEC-US 16 50745323 50745323 single base substitution C T synonymous_variant L501L 1501C>T UCEC-US 16 50745323 50745323 single base substitution C T upstream_gene_variant UCEC-US 16 50745557 50745557 single base substitution G T downstream_gene_variant UCEC-US 16 50745557 50745557 single base substitution G T missense_variant D579Y 1735G>T UCEC-US 16 50745557 50745557 single base substitution G T upstream_gene_variant UCEC-US 16 50745693 50745693 single base substitution C T downstream_gene_variant UCEC-US 16 50745693 50745693 single base substitution C T missense_variant A624V 1871C>T UCEC-US 16 50745693 50745693 single base substitution C T upstream_gene_variant UCEC-US 16 50745796 50745796 single base substitution C T downstream_gene_variant UCEC-US 16 50745796 50745796 single base substitution C T synonymous_variant S658S 1974C>T UCEC-US 16 50745796 50745796 single base substitution C T upstream_gene_variant UCEC-US 16 50756617 50756617 single base substitution G A splice_donor_variant UCEC-US 16 50757289 50757289 single base substitution A C downstream_gene_variant UCEC-US 16 50757289 50757289 single base substitution A C missense_variant E959A 2876A>C UCEC-US 16 50765663 50765663 single base substitution G A missense_variant R1019Q 3056G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand JVM-2 COSM1740310 c.1028T>C p.L343P Substitution - Missense 16:50710939-50710939 + TCGA-B5-A0JY-01 COSM971292 c.660G>A p.K220K Substitution - coding silent 16:50710571-50710571 + RMS109_ COSM3722792 c.802C>T p.P268S Substitution - Missense 16:50710713-50710713 + BRC5 COSM5028134 c.554T>G p.L185R Substitution - Missense 16:50707868-50707868 + T3262 COSM1378209 c.1577delC p.P528fs*235 Deletion - Frameshift 16:50711488-50711488 + C089 COSM5543187 c.2087C>T p.S696F Substitution - Missense 16:50711998-50711998 + YUWHIM COSM1709158 c.1720C>A p.Q574K Substitution - Missense 16:50711631-50711631 + PTC-28C COSM3754920 c.1761T>G p.R587R Substitution - coding silent 16:50711672-50711672 + TCGA-CG-5722-01 COSM4061120 c.2463-1G>C p.? Unknown 16:50716586-50716586 + TCGA-FW-A3R5-06 COSM3888615 c.769C>T p.L257L Substitution - coding silent 16:50710680-50710680 + S00830 COSM317700 c.2019C>A p.I673I Substitution - coding silent 16:50711930-50711930 + TCGA-BT-A3PJ-01 COSM3510082 c.530C>T p.P177L Substitution - Missense 16:50699944-50699944 + Pat_53_A COSM5851015 c.94G>A p.E32K Substitution - Missense 16:50699508-50699508 + CHC1097T COSM4943213 c.2606G>T p.C869F Substitution - Missense 16:50716950-50716950 + CHC892T COSM4793593 c.1944C>T p.C648C Substitution - coding silent 16:50711855-50711855 + YUDUTY COSM1709156 c.581G>A p.G194E Substitution - Missense 16:50707895-50707895 + TCGA-AX-A06H-01 COSM971295 c.903G>A p.A301A Substitution - coding silent 16:50710814-50710814 + C086 COSM5535512 c.2899C>T p.L967F Substitution - Missense 16:50725505-50725505 + AOCS-160-1-6 COSM3948579 c.1579C>G p.P527A Substitution - Missense 16:50711490-50711490 + CHC1097T COSM4943213 c.2606G>T p.C869F Substitution - Missense 16:50716950-50716950 + T3091 COSM4707466 c.3094G>A p.G1032S Substitution - Missense 16:50731790-50731790 + TCGA-D3-A1Q6-06 COSM3510104 c.3076G>A p.E1026K Substitution - Missense 16:50731772-50731772 + TCGA-26-1439-01 COSM3402349 c.1867C>G p.P623A Substitution - Missense 16:50711778-50711778 + TCGA-ED-A4XI-01 COSM4913294 c.815G>A p.S272N Substitution - Missense 16:50710726-50710726 + LIM2551 COSM4643991 c.1676G>A p.G559D Substitution - Missense 16:50711587-50711587 + TCGA-70-6722-01 COSM703530 c.1923C>A p.A641A Substitution - coding silent 16:50711834-50711834 + RMS110_ COSM4986228 c.2863G>A p.V955I Substitution - Missense 16:50723365-50723365 + RK060_C01 COSM3701089 c.2847G>C p.L949L Substitution - coding silent 16:50723349-50723349 + LUAD-S00484 COSM392349 c.1509delG p.S506fs*11 Deletion - Frameshift 16:50711420-50711420 + 8035555 COSM3387467 c.409C>T p.H137Y Substitution - Missense 16:50699823-50699823 + T3024 COSM1378209 c.1577delC p.P528fs*235 Deletion - Frameshift 16:50711488-50711488 + BD207T COSM5495313 c.2681G>T p.G894V Substitution - Missense 16:50719975-50719975 + T2932 COSM4707460 c.1177C>T p.R393C Substitution - Missense 16:50711088-50711088 + TCGA-EE-A29E-06 COSM3510087 c.1618C>A p.L540I Substitution - Missense 16:50711529-50711529 + sysucc-1370T COSM5470530 c.2370G>A p.R790R Substitution - coding silent 16:50712281-50712281 + TCGA-GF-A6C9-06 COSM4901770 c.871G>A p.D291N Substitution - Missense 16:50710782-50710782 + 477 COSM4438697 c.1081G>A p.E361K Substitution - Missense 16:50710992-50710992 + TCGA-BP-4967-01 COSM471799 c.1295C>T p.A432V Substitution - Missense 16:50711206-50711206 + LS411 COSM2834359 c.1728C>T p.S576S Substitution - coding silent 16:50711639-50711639 + 12924 COSM5616860 c.2169G>A p.P723P Substitution - coding silent 16:50712080-50712080 + TCGA-46-3769-01 COSM703527 c.2369G>T p.R790L Substitution - Missense 16:50712280-50712280 + YUPAT COSM78183 c.1193C>T p.T398I Substitution - Missense 16:50711104-50711104 + TCGA-BS-A0UF-01 COSM971302 c.1735G>T p.D579Y Substitution - Missense 16:50711646-50711646 + B66 COSM1302013 c.2074G>A p.E692K Substitution - Missense 16:50711985-50711985 + LOVO COSM1378209 c.1577delC p.P528fs*235 Deletion - Frameshift 16:50711488-50711488 + TCGA-AP-A059-01 COSM971303 c.1871C>T p.A624V Substitution - Missense 16:50711782-50711782 + LUAD-S01357 COSM386738 c.2758G>T p.A920S Substitution - Missense 16:50722665-50722665 + TCGA-AP-A0LE-01 COSM971298 c.1118G>A p.R373H Substitution - Missense 16:50711029-50711029 + T2769 COSM4707463 c.1786A>G p.T596A Substitution - Missense 16:50711697-50711697 + TCGA-23-1119-01 COSM78183 c.1193C>T p.T398I Substitution - Missense 16:50711104-50711104 + TCGA-FW-A3R5-06 COSM3888612 c.217G>A p.G73S Substitution - Missense 16:50699631-50699631 + B96 COSM1749641 c.1851C>T p.L617L Substitution - coding silent 16:50711762-50711762 + TCGA-F4-6855-01 COSM1378212 c.2368C>T p.R790W Substitution - Missense 16:50712279-50712279 + LUAD-B02594 COSM356449 c.2192A>G p.K731R Substitution - Missense 16:50712103-50712103 + TCGA-BR-4184-01 COSM4061122 c.2998G>T p.A1000S Substitution - Missense 16:50729849-50729849 + Z138 COSM1740299 c.61G>T p.G21* Substitution - Nonsense 16:50697304-50697304 + PTC-50C COSM4129102 c.140C>A p.S47* Substitution - Nonsense 16:50699554-50699554 + TCGA-EE-A2GI-06 COSM3510080 c.228C>T p.L76L Substitution - coding silent 16:50699642-50699642 + T3724 COSM4707462 c.1710C>A p.L570L Substitution - coding silent 16:50711621-50711621 + TCGA-D1-A101-01 COSM971301 c.1501C>T p.L501L Substitution - coding silent 16:50711412-50711412 + TCGA-B5-A11E-01 COSM971293 c.704G>A p.R235H Substitution - Missense 16:50710615-50710615 + 12T COSM106450 c.744G>A p.L248L Substitution - coding silent 16:50710655-50710655 + TCGA-FW-A3R5-06 COSM3888613 c.508A>T p.I170F Substitution - Missense 16:50699922-50699922 + TCGA-D3-A1QA-06 COSM3510100 c.2996G>A p.G999E Substitution - Missense 16:50729847-50729847 + TCGA-D1-A0ZS-01 COSM971299 c.1146C>T p.D382D Substitution - coding silent 16:50711057-50711057 + 2205 COSM5016518 c.633_636delCCTG p.P213fs*13 Deletion - Frameshift 16:50707947-50707950 + LS174T COSM2834328 c.876G>A p.A292A Substitution - coding silent 16:50710787-50710787 + TCGA-CM-5861-01 COSM1378214 c.2630+2T>C p.? Unknown 16:50716976-50716976 + SC_9038 COSM1172338 c.931C>T p.R311W Substitution - Missense 16:50710842-50710842 + sysucc-1317T COSM5448876 c.394C>T p.R132* Substitution - Nonsense 16:50699808-50699808 + T2417 COSM4707465 c.2278C>T p.R760C Substitution - Missense 16:50712189-50712189 + T2269 COSM4707458 c.575C>T p.A192V Substitution - Missense 16:50707889-50707889 + CSCC-49-T COSM4477234 c.2136C>T p.A712A Substitution - coding silent 16:50712047-50712047 + ESO-1096 COSM1259275 c.2180C>T p.P727L Substitution - Missense 16:50712091-50712091 + CSCC-27-T COSM4458864 c.1101C>T p.L367L Substitution - coding silent 16:50711012-50711012 + TCGA-FW-A3R5-06 COSM3888620 c.2745G>A p.G915G Substitution - coding silent 16:50722652-50722652 + TCGA-BC-A10Z-01 COSM4936110 c.998G>C p.C333S Substitution - Missense 16:50710909-50710909 + TCGA-FS-A4F5-06 COSM3510091 c.1881A>T p.R627S Substitution - Missense 16:50711792-50711792 + TCGA-G4-6586-01 COSM1378205 c.1259G>A p.R420H Substitution - Missense 16:50711170-50711170 + LUAD-RT-S01777 COSM381981 c.111G>T p.Q37H Substitution - Missense 16:50699525-50699525 + CSCC-55-T COSM4541823 c.3078G>A p.E1026E Substitution - coding silent 16:50731774-50731774 + CHEWS004 COSM4579074 c.274G>A p.V92I Substitution - Missense 16:50699688-50699688 + TCGA-33-4583-01 COSM703535 c.1119T>A p.R373R Substitution - coding silent 16:50711030-50711030 + TCGA-FW-A3R5-06 COSM3888617 c.1147G>A p.E383K Substitution - Missense 16:50711058-50711058 + LC_C6 COSM1189274 c.875C>T p.A292V Substitution - Missense 16:50710786-50710786 + TCGA-G9-6377-01 COSM3672269 c.1736A>G p.D579G Substitution - Missense 16:50711647-50711647 + TCGA-AF-2687-01 COSM1563093 c.1660G>A p.A554T Substitution - Missense 16:50711571-50711571 + CHC892T COSM4795892 c.375C>T p.P125P Substitution - coding silent 16:50699789-50699789 + HCC47T COSM1609391 c.2096C>T p.A699V Substitution - Missense 16:50712007-50712007 + TCGA-GN-A266-06 COSM3510082 c.530C>T p.P177L Substitution - Missense 16:50699944-50699944 + TCGA-22-4591-01 COSM703529 c.1956G>A p.S652S Substitution - coding silent 16:50711867-50711867 + UMC11 COSM2834393 c.2907T>A p.D969E Substitution - Missense 16:50725513-50725513 + TCGA-21-5782-01 COSM703538 c.581G>C p.G194A Substitution - Missense 16:50707895-50707895 + TCGA-BR-4370-01 COSM4061116 c.1462T>C p.F488L Substitution - Missense 16:50711373-50711373 + Pat_15_A COSM2834307 c.127G>A p.E43K Substitution - Missense 16:50699541-50699541 + TCGA-EE-A29S-06 COSM3510092 c.1966G>C p.D656H Substitution - Missense 16:50711877-50711877 + TCGA-CM-4744-01 COSM1378206 c.1316G>A p.R439H Substitution - Missense 16:50711227-50711227 + SCMC_RM2_ COSM1172338 c.931C>T p.R311W Substitution - Missense 16:50710842-50710842 + TCGA-HU-A4G8-01 COSM4061118 c.2078G>A p.C693Y Substitution - Missense 16:50711989-50711989 + TCGA-EE-A2MR-06 COSM3510098 c.2884C>T p.L962L Substitution - coding silent 16:50725490-50725490 + TCGA-EE-A3J5-06 COSM3510083 c.780G>A p.W260* Substitution - Nonsense 16:50710691-50710691 + CSCC-27-T COSM4449564 c.2658delG p.G887fs*43 Deletion - Frameshift 16:50719952-50719952 + TCGA-AP-A056-01 COSM971308 c.3056G>A p.R1019Q Substitution - Missense 16:50731752-50731752 + tumor_4145056 COSM5950142 c.1422A>G p.Q474Q Substitution - coding silent 16:50711333-50711333 + CSCC-18-T COSM4541569 c.3027G>A p.R1009R Substitution - coding silent 16:50729878-50729878 + TCGA-HU-A4GH-01 COSM262426 c.2468G>A p.R823H Substitution - Missense 16:50716592-50716592 + HCC022T COSM5817655 c.2034G>C p.L678L Substitution - coding silent 16:50711945-50711945 + 1_RESISTANT COSM1378209 c.1577delC p.P528fs*235 Deletion - Frameshift 16:50711488-50711488 + TCGA-AG-A002-01 COSM262426 c.2468G>A p.R823H Substitution - Missense 16:50716592-50716592 + CSCC-62-T COSM4540920 c.2912G>A p.G971D Substitution - Missense 16:50725518-50725518 + TCGA-AM-5820-01 COSM3691035 c.2656G>A p.A886T Substitution - Missense 16:50719950-50719950 + CSCC-44-T COSM4464640 c.1343C>T p.S448F Substitution - Missense 16:50711254-50711254 + TCGA-EE-A3AH-06 COSM3510084 c.1117C>T p.R373C Substitution - Missense 16:50711028-50711028 + RKO COSM2834351 c.1504C>T p.Q502* Substitution - Nonsense 16:50711415-50711415 + TCGA-AP-A056-01 COSM971297 c.1049T>G p.F350C Substitution - Missense 16:50710960-50710960 + TCGA-B5-A11E-01 COSM971291 c.517C>T p.P173S Substitution - Missense 16:50699931-50699931 + TCGA-EE-A3AA-06 COSM3510088 c.1621C>T p.R541W Substitution - Missense 16:50711532-50711532 + CSCC-44-T COSM4539900 c.2751G>A p.Q917Q Substitution - coding silent 16:50722658-50722658 + I2L-P19Tb-Tumor-Biopsy COSM5363450 c.3098G>A p.C1033Y Substitution - Missense 16:50731794-50731794 + OSCC-GB_00470111 COSM3712147 c.2090A>T p.E697V Substitution - Missense 16:50712001-50712001 + TCGA-F1-6177-01 COSM4061119 c.2241C>T p.Y747Y Substitution - coding silent 16:50712152-50712152 + Pat_14_A COSM3510090 c.1798G>A p.E600K Substitution - Missense 16:50711709-50711709 + TCGA-ER-A19D-06 COSM3510085 c.1171C>T p.R391C Substitution - Missense 16:50711082-50711082 + PASFXA COSM5005992 c.1759C>T p.R587C Substitution - Missense 16:50711670-50711670 + SMS-CTR COSM3722792 c.802C>T p.P268S Substitution - Missense 16:50710713-50710713 + TCGA-G3-A5SL-01 COSM4929618 c.1588T>C p.S530P Substitution - Missense 16:50711499-50711499 + UM-SCC-4 COSM2834324 c.806C>T p.P269L Substitution - Missense 16:50710717-50710717 + 35M COSM5581863 c.1264G>A p.V422M Substitution - Missense 16:50711175-50711175 + 46M COSM5588464 c.483C>T p.F161F Substitution - coding silent 16:50699897-50699897 + YURIF COSM1709157 c.805C>T p.P269S Substitution - Missense 16:50710716-50710716 + pfg127T COSM4765225 c.1577_1578insC p.D529fs*50 Insertion - Frameshift 16:50711488-50711489 + BD124T COSM2834328 c.876G>A p.A292A Substitution - coding silent 16:50710787-50710787 + TCGA-AD-6964-01 COSM392349 c.1509delG p.S506fs*11 Deletion - Frameshift 16:50711420-50711420 + 49M COSM5592134 c.2743G>A p.G915R Substitution - Missense 16:50722650-50722650 + RMS10_ COSM3722792 c.802C>T p.P268S Substitution - Missense 16:50710713-50710713 + PT46 COSM5929675 c.1205C>T p.S402F Substitution - Missense 16:50711116-50711116 + TCGA-DK-A1AC-01 COSM1302013 c.2074G>A p.E692K Substitution - Missense 16:50711985-50711985 + TCGA-EE-A2GO-06 COSM3510090 c.1798G>A p.E600K Substitution - Missense 16:50711709-50711709 + TCGA-FW-A3R5-06 COSM3888611 c.89C>T p.S30L Substitution - Missense 16:50699503-50699503 + TCGA-22-4613-01 COSM703522 c.2902C>T p.Q968* Substitution - Nonsense 16:50725508-50725508 + TCGA-CM-6674-01 COSM1378209 c.1577delC p.P528fs*235 Deletion - Frameshift 16:50711488-50711488 + T3064 COSM392349 c.1509delG p.S506fs*11 Deletion - Frameshift 16:50711420-50711420 + TCGA-B5-A0JY-01 COSM257540 c.976C>A p.L326I Substitution - Missense 16:50710887-50710887 + RKO COSM4647937 c.2015A>C p.Q672P Substitution - Missense 16:50711926-50711926 + TCGA-AA-3713-01 COSM1378209 c.1577delC p.P528fs*235 Deletion - Frameshift 16:50711488-50711488 + I2L-P19Tb-Tumor-Organoid COSM5363450 c.3098G>A p.C1033Y Substitution - Missense 16:50731794-50731794 + TCGA-CM-6162-01 COSM392349 c.1509delG p.S506fs*11 Deletion - Frameshift 16:50711420-50711420 + MO_1074 COSM4579074 c.274G>A p.V92I Substitution - Missense 16:50699688-50699688 + TCGA-EE-A2MS-06 COSM3510094 c.2700C>T p.S900S Substitution - coding silent 16:50719994-50719994 + CHC892T COSM4793593 c.1944C>T p.C648C Substitution - coding silent 16:50711855-50711855 + 8068044 COSM4388082 c.2197G>A p.V733M Substitution - Missense 16:50712108-50712108 + TCGA-AP-A051-01 COSM971289 c.397G>T p.D133Y Substitution - Missense 16:50699811-50699811 + J87_T COSM3957631 c.2715-10G>C p.? Unknown 16:50722612-50722612 + TCGA-AX-A0J1-01 COSM971304 c.1974C>T p.S658S Substitution - coding silent 16:50711885-50711885 + TCGA-CZ-5989-01 COSM471800 c.2974A>T p.N992Y Substitution - Missense 16:50729825-50729825 + TCGA-DK-A2I4-01 COSM3794899 c.1697C>G p.S566* Substitution - Nonsense 16:50711608-50711608 + ORL-48 COSM4596832 c.2572G>A p.G858S Substitution - Missense 16:50716916-50716916 + LS411 COSM2834367 c.2023G>A p.A675T Substitution - Missense 16:50711934-50711934 + PT35 COSM5913779 c.2964G>A p.L988L Substitution - coding silent 16:50725570-50725570 + TCGA-MU-A5YI-01 COSM4596832 c.2572G>A p.G858S Substitution - Missense 16:50716916-50716916 + HCC47 COSM1609391 c.2096C>T p.A699V Substitution - Missense 16:50712007-50712007 + PCSI_0472_Pa_P_526 COSM5031548 c.2230C>T p.R744W Substitution - Missense 16:50712141-50712141 + TCGA-DC-4749-01 COSM3421026 c.1650G>A p.L550L Substitution - coding silent 16:50711561-50711561 + RMS80_ COSM3722792 c.802C>T p.P268S Substitution - Missense 16:50710713-50710713 + 40M COSM5585953 c.1637C>T p.T546I Substitution - Missense 16:50711548-50711548 + HCC107T COSM1609390 c.1508A>G p.E503G Substitution - Missense 16:50711419-50711419 + LIM1899 COSM1378205 c.1259G>A p.R420H Substitution - Missense 16:50711170-50711170 + TCGA-EE-A2A2-06 COSM3510102 c.3059G>A p.G1020E Substitution - Missense 16:50731755-50731755 + SK-MEL-5 COSM1683498 c.3019_3020insC p.L1007fs*2 Insertion - Frameshift 16:50729870-50729871 + B96-Tumor COSM1749641 c.1851C>T p.L617L Substitution - coding silent 16:50711762-50711762 + TCGA-EE-A2MP-06 COSM3888616 c.976C>T p.L326F Substitution - Missense 16:50710887-50710887 + TCGA-FD-A3N6-01 COSM1302012 c.1323G>A p.E441E Substitution - coding silent 16:50711234-50711234 + HCC62 COSM3716946 c.1970G>C p.S657T Substitution - Missense 16:50711881-50711881 + ESCC-154T COSM3937082 c.1285G>A p.A429T Substitution - Missense 16:50711196-50711196 + TCGA-BP-4992-01 COSM471798 c.442C>T p.H148Y Substitution - Missense 16:50699856-50699856 + TCGA-HU-A4G8-01 COSM4061117 c.1787C>T p.T596M Substitution - Missense 16:50711698-50711698 + ESO-601 COSM1259276 c.1733A>T p.D578V Substitution - Missense 16:50711644-50711644 + TCGA-D9-A6EC-06 COSM4401163 c.343C>T p.Q115* Substitution - Nonsense 16:50699757-50699757 + TCGA-EE-A29M-06 COSM3510103 c.3069C>T p.F1023F Substitution - coding silent 16:50731765-50731765 + YUKAE COSM5384957 c.1048T>A p.F350I Substitution - Missense 16:50710959-50710959 + Pat_41_A COSM4707459 c.1166C>T p.T389M Substitution - Missense 16:50711077-50711077 + SJHGG034_D COSM4970493 c.1293G>A p.S431S Substitution - coding silent 16:50711204-50711204 + TCGA-60-2722-01 COSM703539 c.538A>T p.R180W Substitution - Missense 16:50699952-50699952 + TCGA-66-2759-01 COSM703534 c.1358A>G p.E453G Substitution - Missense 16:50711269-50711269 + LS180 COSM2834328 c.876G>A p.A292A Substitution - coding silent 16:50710787-50710787 + J9_T COSM3957630 c.1582C>T p.P528S Substitution - Missense 16:50711493-50711493 + 37M COSM5583854 c.1221C>T p.L407L Substitution - coding silent 16:50711132-50711132 + YUROG COSM4541569 c.3027G>A p.R1009R Substitution - coding silent 16:50729878-50729878 + TCGA-60-2720-01 COSM703531 c.1627C>T p.R543C Substitution - Missense 16:50711538-50711538 + 2492730 COSM5728618 c.1335G>A p.K445K Substitution - coding silent 16:50711246-50711246 + ESCC_BICR_032T COSM5431924 c.2935C>G p.L979V Substitution - Missense 16:50725541-50725541 + TCGA-EA-A1QS-01 COSM4831002 c.835G>C p.E279Q Substitution - Missense 16:50710746-50710746 + TCGA-33-4566-01 COSM703533 c.1489C>A p.Q497K Substitution - Missense 16:50711400-50711400 + TCGA-G4-6588-01 COSM1378209 c.1577delC p.P528fs*235 Deletion - Frameshift 16:50711488-50711488 + 430 COSM2834366 c.2003C>T p.P668L Substitution - Missense 16:50711914-50711914 + CSCC-32-T COSM4530522 c.1704G>A p.Q568Q Substitution - coding silent 16:50711615-50711615 + PTC-14C COSM4129103 c.2078G>T p.C693F Substitution - Missense 16:50711989-50711989 + 578 COSM3722792 c.802C>T p.P268S Substitution - Missense 16:50710713-50710713 + QC2-25-T2 COSM5653357 c.2925C>A p.L975L Substitution - coding silent 16:50725531-50725531 + YUROG COSM5384958 c.3110G>A p.R1037K Substitution - Missense 16:50731806-50731806 + TCGA-34-5234-01 COSM703526 c.2771G>T p.G924V Substitution - Missense 16:50722678-50722678 + TCGA-ER-A19A-06 COSM3510099 c.2955G>A p.L985L Substitution - coding silent 16:50725561-50725561 + Pat_66_A COSM5851016 c.2470G>A p.D824N Substitution - Missense 16:50716594-50716594 + T1154 COSM4707464 c.2184T>C p.G728G Substitution - coding silent 16:50712095-50712095 + 585260 COSM322064 c.613G>T p.E205* Substitution - Nonsense 16:50707927-50707927 + TCGA-EE-A2A2-06 COSM3510081 c.229C>T p.L77L Substitution - coding silent 16:50699643-50699643 + TCGA-B5-A0JY-01 COSM971300 c.1321G>A p.E441K Substitution - Missense 16:50711232-50711232 + PCSI_0521_Pa_P_526 COSM5761817 c.397G>A p.D133N Substitution - Missense 16:50699811-50699811 + T3092 COSM2834339 c.1277G>A p.R426H Substitution - Missense 16:50711188-50711188 + TCGA-AX-A0J0-01 COSM971307 c.2876A>C p.E959A Substitution - Missense 16:50723378-50723378 + ESO-859 COSM1239612 c.476G>A p.R159Q Substitution - Missense 16:50699890-50699890 + S02384 COSM5698281 c.73G>T p.G25C Substitution - Missense 16:50697316-50697316 + TCGA-G4-6309-01 COSM1378209 c.1577delC p.P528fs*235 Deletion - Frameshift 16:50711488-50711488 + TCGA-32-4211-01 COSM3402350 c.2988C>T p.T996T Substitution - coding silent 16:50729839-50729839 + TCGA-D1-A103-01 COSM971305 c.2798+1G>A p.? Unknown 16:50722706-50722706 + TCGA-EL-A3T8-01 COSM3370456 c.2900T>A p.L967H Substitution - Missense 16:50725506-50725506 + TCGA-EE-A3JD-06 COSM4396658 c.3026G>A p.R1009K Substitution - Missense 16:50729877-50729877 + RK190_C01 COSM3741940 c.2383C>T p.L795L Substitution - coding silent 16:50712294-50712294 + TCGA-AG-A002-01 COSM262425 c.2455G>A p.A819T Substitution - Missense 16:50712366-50712366 + LAU63 COSM235043 c.2031C>T p.F677F Substitution - coding silent 16:50711942-50711942 + Pat_63_B COSM5851017 c.2731G>A p.V911M Substitution - Missense 16:50722638-50722638 + CHC892T COSM4795892 c.375C>T p.P125P Substitution - coding silent 16:50699789-50699789 + 226 COSM4425835 c.1320C>T p.T440T Substitution - coding silent 16:50711231-50711231 + 2293782 COSM4608613 c.631G>T p.A211S Substitution - Missense 16:50707945-50707945 + 8015299 COSM3771961 c.1191G>A p.P397P Substitution - coding silent 16:50711102-50711102 + TCGA-HP-A5N0-01 COSM4942150 c.2581C>T p.H861Y Substitution - Missense 16:50716925-50716925 + TCGA-EE-A3AG-06 COSM3510086 c.1305G>A p.R435R Substitution - coding silent 16:50711216-50711216 + TCGA-G4-6588-01 COSM1378203 c.412C>T p.R138W Substitution - Missense 16:50699826-50699826 + 4_PRE-TREATMENT COSM1724159 c.2715-7delT p.? Unknown 16:50722615-50722615 + PD9004a COSM5798551 c.1760G>T p.R587L Substitution - Missense 16:50711671-50711671 + TCGA-FW-A3R5-06 COSM3888621 c.2859G>A p.K953K Substitution - coding silent 16:50723361-50723361 + 2492701 COSM5716283 c.1280C>T p.P427L Substitution - Missense 16:50711191-50711191 + TCGA-18-3409-01 COSM703537 c.852C>T p.T284T Substitution - coding silent 16:50710763-50710763 + sysucc-1317T COSM5448877 c.650C>T p.A217V Substitution - Missense 16:50710561-50710561 + 8066443 COSM1378211 c.2267G>A p.R756Q Substitution - Missense 16:50712178-50712178 + TCGA-IR-A3LH-01 COSM435360 c.530C>G p.P177R Substitution - Missense 16:50699944-50699944 + TCGA-FW-A3R5-06 COSM3888619 c.2489G>A p.R830Q Substitution - Missense 16:50716613-50716613 + TCGA-A2-A0EY-01 COSM435362 c.1158C>T p.F386F Substitution - coding silent 16:50711069-50711069 + TCGA-AG-4008-01 COSM2834354 c.1576_1577insC p.D529fs*50 Insertion - Frameshift 16:50711487-50711488 + TCGA-ER-A19S-06 COSM3510101 c.3040C>T p.L1014L Substitution - coding silent 16:50729891-50729891 + TCGA-BR-4368-01 COSM4061115 c.734C>T p.T245M Substitution - Missense 16:50710645-50710645 + TCGA-AX-A05Y-01 COSM971290 c.500G>A p.C167Y Substitution - Missense 16:50699914-50699914 + TCGA-BF-A3DM-01 COSM3888618 c.1782G>A p.G594G Substitution - coding silent 16:50711693-50711693 + TCGA-BR-4361-01 COSM4061114 c.90G>A p.S30S Substitution - coding silent 16:50699504-50699504 + T578 COSM3510087 c.1618C>A p.L540I Substitution - Missense 16:50711529-50711529 + TCGA-37-3789-01 COSM703524 c.2901C>G p.L967L Substitution - coding silent 16:50725507-50725507 + 2492703 COSM5716283 c.1280C>T p.P427L Substitution - Missense 16:50711191-50711191 + T469 COSM4707459 c.1166C>T p.T389M Substitution - Missense 16:50711077-50711077 + TCGA-AG-3892-01 COSM257540 c.976C>A p.L326I Substitution - Missense 16:50710887-50710887 + 262LT COSM4381636 c.919A>T p.T307S Substitution - Missense 16:50710830-50710830 + PAPNNX COSM971294 c.735G>A p.T245T Substitution - coding silent 16:50710646-50710646 + TCGA-29-2434-01 COSM1324420 c.2926G>A p.A976T Substitution - Missense 16:50725532-50725532 + TCGA-EE-A29L-06 COSM3510097 c.2773G>A p.D925N Substitution - Missense 16:50722680-50722680 + CSCC-52-T COSM4481139 c.2488C>T p.R830* Substitution - Nonsense 16:50716612-50716612 + CSCC-62-T COSM4476879 c.2103C>T p.L701L Substitution - coding silent 16:50712014-50712014 + TCGA-AN-A0FJ-01 COSM435360 c.530C>G p.P177R Substitution - Missense 16:50699944-50699944 + CSCC-31-T COSM4541053 c.2937G>A p.L979L Substitution - coding silent 16:50725543-50725543 + Sample_1 COSM3765913 c.1377C>T p.R459R Substitution - coding silent 16:50711288-50711288 + TCGA-F4-6856-01 COSM1378213 c.2546C>T p.A849V Substitution - Missense 16:50716670-50716670 + TCGA-DR-A0ZM-01 COSM460531 c.1858G>A p.D620N Substitution - Missense 16:50711769-50711769 + YUKAT COSM5384956 c.756C>T p.Y252Y Substitution - coding silent 16:50710667-50710667 + TCGA-22-4613-01 COSM703525 c.2901C>A p.L967L Substitution - coding silent 16:50725507-50725507 + TCGA-18-3406-01 COSM703532 c.1556A>C p.Q519P Substitution - Missense 16:50711467-50711467 + TCGA-EE-A29L-06 COSM3510089 c.1633C>T p.P545S Substitution - Missense 16:50711544-50711544 + S00830 COSM317700 c.2019C>A p.I673I Substitution - coding silent 16:50711930-50711930 + TCGA-18-3416-01 COSM703536 c.869A>T p.D290V Substitution - Missense 16:50710780-50710780 + B66-Tumor COSM1302013 c.2074G>A p.E692K Substitution - Missense 16:50711985-50711985 + CSCC-4-T COSM4449637 c.2882+1G>A p.? Unknown 16:50723385-50723385 + HCT8 COSM4634090 c.861C>T p.H287H Substitution - coding silent 16:50710772-50710772 + sysucc-311T COSM5479129 c.1037G>A p.R346Q Substitution - Missense 16:50710948-50710948 + YUKAT COSM4541569 c.3027G>A p.R1009R Substitution - coding silent 16:50729878-50729878 + T2939 COSM4707461 c.1535A>T p.D512V Substitution - Missense 16:50711446-50711446 + sysucc-1972T COSM5480378 c.1724T>A p.V575D Substitution - Missense 16:50711635-50711635 + T578 COSM257540 c.976C>A p.L326I Substitution - Missense 16:50710887-50710887 + TCGA-BR-8680-01 COSM4061121 c.2940G>T p.K980N Substitution - Missense 16:50725546-50725546 + sysucc-311T COSM5479130 c.3002A>G p.E1001G Substitution - Missense 16:50729853-50729853 + TCGA-FW-A3R5-06 COSM3888614 c.549G>A p.R183R Substitution - coding silent 16:50707863-50707863 + TCGA-AM-5820-01 COSM3754920 c.1761T>G p.R587R Substitution - coding silent 16:50711672-50711672 + SNU-175 COSM2834360 c.1832C>T p.A611V Substitution - Missense 16:50711743-50711743 + TCGA-CM-4743-01 COSM1378208 c.1508_1509insG p.S506fs*73 Insertion - Frameshift 16:50711419-50711420 + CHC205T COSM3765913 c.1377C>T p.R459R Substitution - coding silent 16:50711288-50711288 + TCGA-06-5412-01 COSM3402348 c.412C>G p.R138G Substitution - Missense 16:50699826-50699826 + ME012T COSM224740 c.2776C>T p.H926Y Substitution - Missense 16:50722683-50722683 + KM12 COSM2834306 c.106G>A p.A36T Substitution - Missense 16:50699520-50699520 + CT-TC COSM3722792 c.802C>T p.P268S Substitution - Missense 16:50710713-50710713 + TCGA-BS-A0UV-01 COSM971294 c.735G>A p.T245T Substitution - coding silent 16:50710646-50710646 + TCGA-EI-6917-01 COSM3421025 c.159C>T p.F53F Substitution - coding silent 16:50699573-50699573 + TCGA-61-1914-01 COSM1324421 c.433C>A p.L145I Substitution - Missense 16:50699847-50699847 + TCGA-04-1542-01 COSM79235 c.1711C>T p.Q571* Substitution - Nonsense 16:50711622-50711622 + LUAD-YINHD COSM349199 c.470G>T p.W157L Substitution - Missense 16:50699884-50699884 + 436 COSM4434007 c.2514T>G p.C838W Substitution - Missense 16:50716638-50716638 + T3021 COSM3937082 c.1285G>A p.A429T Substitution - Missense 16:50711196-50711196 + RMS105_ COSM4986228 c.2863G>A p.V955I Substitution - Missense 16:50723365-50723365 + CSB31 COSM5028135 c.1890C>T p.F630F Substitution - coding silent 16:50711801-50711801 + TCGA-24-2290-01 COSM71861 c.233G>C p.G78A Substitution - Missense 16:50699647-50699647 + KM12 COSM2834373 c.2217C>T p.F739F Substitution - coding silent 16:50712128-50712128 + TCGA-D3-A2J8-06 COSM3510079 c.103C>T p.Q35* Substitution - Nonsense 16:50699517-50699517 + TCGA-EE-A3AG-06 COSM3510093 c.2686C>T p.R896* Substitution - Nonsense 16:50719980-50719980 + RMS111_ COSM4986228 c.2863G>A p.V955I Substitution - Missense 16:50723365-50723365 + TCGA-AP-A0LM-01 COSM971296 c.922C>T p.L308F Substitution - Missense 16:50710833-50710833 + TCGA-AG-A036-01 COSM2834354 c.1576_1577insC p.D529fs*50 Insertion - Frameshift 16:50711487-50711488 + S02273 COSM5681684 c.748G>T p.D250Y Substitution - Missense 16:50710659-50710659 + H1672 COSM313280 c.332A>G p.Q111R Substitution - Missense 16:50699746-50699746 + SC_9091 COSM5550689 c.2657C>T p.A886V Substitution - Missense 16:50719951-50719951 + STC291 COSM1378209 c.1577delC p.P528fs*235 Deletion - Frameshift 16:50711488-50711488 + 587376 COSM1217547 c.2859G>T p.K953N Substitution - Missense 16:50723361-50723361 + 587392 COSM1217546 c.2635G>A p.G879R Substitution - Missense 16:50719929-50719929 + HCC62T COSM3716946 c.1970G>C p.S657T Substitution - Missense 16:50711881-50711881 + 169 COSM190543 c.1791G>A p.A597A Substitution - coding silent 16:50711702-50711702 + ESOSCC164T COSM1172338 c.931C>T p.R311W Substitution - Missense 16:50710842-50710842 + LS411 COSM2834397 c.3075_3076delAG p.E1026fs*3 Deletion - Frameshift 16:50731771-50731772 + BD236T COSM3421025 c.159C>T p.F53F Substitution - coding silent 16:50699573-50699573 + CSCC-27-T COSM4475929 c.2027C>T p.A676V Substitution - Missense 16:50711938-50711938 + Pat_53_B COSM5851015 c.94G>A p.E32K Substitution - Missense 16:50699508-50699508 + TCGA-OL-A5RZ-01 COSM3818066 c.2172A>C p.P724P Substitution - coding silent 16:50712083-50712083 + 47T COSM3712147 c.2090A>T p.E697V Substitution - Missense 16:50712001-50712001 + Pat_15_B COSM2834307 c.127G>A p.E43K Substitution - Missense 16:50699541-50699541 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.592072 16q21 605956

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Q519P c.1556A>C 16 50745378 LUSC A G 3-UTRSNV . c.3120+1227A>G 16 50766954 HC A G Missense p.D579G c.1736A>G 16 50745558 PRAD A G Missense p.E453G c.1358A>G 16 50745180 LUSC A T Missense p.D290V c.869A>T 16 50744691 LUSC A T Missense p.D578V c.1733A>T 16 50745555 ESCA A T Missense p.E279V c.836A>T 16 50744658 LUAD A T Missense p.N992Y c.2974A>T 16 50763736 RCCC A T Missense p.R180W c.538A>T 16 50733863 LUSC C A Missense p.D124E c.372C>A 16 50733697 BRCA C A Missense p.H83N c.247C>A 16 50733572 HNSC C A Missense p.P598T c.1792C>A 16 50745614 LUAD C A Synonymous p.A641A c.1923C>A 16 50745745 LUSC C A Synonymous p.G304G c.912C>A 16 50744734 LUAD C A Synonymous p.I673I c.2019C>A 16 50745841 SCLC C A Synonymous p.L967L c.2901C>A 16 50759418 LUSC C A Synonymous p.V259V c.777C>A 16 50744599 LUAD C G Missense p.P177R c.530C>G 16 50733855 BRCA C G Missense p.P623A c.1867C>G 16 50745689 GBM C G Missense p.R138G c.412C>G 16 50733737 GBM C G Nonsense p.S566* c.1697C>G 16 50745519 BLCA C G Synonymous p.L967L c.2901C>G 16 50759418 LUSC C T IntronicSNV . c.2462+140C>T 16 50746424 CM C T IntronicSNV . c.2462+142C>T 16 50746426 CM C T Missense p.A292V c.875C>T 16 50744697 STAD C T Missense p.A432V c.1295C>T 16 50745117 RCCC C T Missense p.H148Y c.442C>T 16 50733767 RCCC C T Missense p.H926Y c.2776C>T 16 50756594 CM C T Missense p.L326F c.976C>T 16 50744798 CM C T Missense p.P177L c.530C>T 16 50733855 BLCA C T Missense p.P527L c.1580C>T 16 50745402 CM C T Missense p.P545S c.1633C>T 16 50745455 CM C T Missense p.P727L c.2180C>T 16 50746002 ESCA C T Missense p.R373C c.1117C>T 16 50744939 CM C T Missense p.R391C c.1171C>T 16 50744993 CM C T Missense p.R541W c.1621C>T 16 50745443 CM C T Missense p.R543C c.1627C>T 16 50745449 LUAD C T Missense p.R543C c.1627C>T 16 50745449 LUSC C T Missense p.S983L c.2948C>T 16 50759465 CM C T Missense p.T245M c.734C>T 16 50744556 STAD C T Missense p.T389M c.1166C>T 16 50744988 STAD C T Nonsense p.Q35* c.103C>T 16 50733428 CM C T Nonsense p.Q533* c.1597C>T 16 50745419 HNSC C T Nonsense p.Q571* c.1711C>T 16 50745533 OV C T Nonsense p.Q968* c.2902C>T 16 50759419 LUSC C T Nonsense p.R896* c.2686C>T 16 50753891 CM C T Synonymous p.A131A c.393C>T 16 50733718 CM C T Synonymous p.F1023F c.3069C>T 16 50765676 CM C T Synonymous p.F386F c.1158C>T 16 50744980 BRCA C T Synonymous p.F606F c.1818C>T 16 50745640 CM C T Synonymous p.F630F c.1890C>T 16 50745712 BRCA C T Synonymous p.I170I c.510C>T 16 50733835 HNSC C T Synonymous p.L1014L c.3040C>T 16 50763802 CM C T Synonymous p.L246L c.738C>T 16 50744560 CM C T Synonymous p.L501L c.1501C>T 16 50745323 UCEC C T Synonymous p.L547L c.1641C>T 16 50745463 BRCA C T Synonymous p.L548L c.1642C>T 16 50745464 LUAD C T Synonymous p.L76L c.228C>T 16 50733553 CM C T Synonymous p.L77L c.229C>T 16 50733554 CM C T Synonymous p.N409N c.1227C>T 16 50745049 CM C T Synonymous p.S900S c.2700C>T 16 50753905 CM C T Synonymous p.T996T c.2988C>T 16 50763750 GBM C T Synonymous p.V591V c.1773C>T 16 50745595 HNSC C T Synonymous p.Y747Y c.2241C>T 16 50746063 STAD G A Missense p.C167Y c.500G>A 16 50733825 UCEC G A Missense p.D399N c.1195G>A 16 50745017 CM G A Missense p.D925N c.2773G>A 16 50756591 CM G A Missense p.E1026K c.3076G>A 16 50765683 CM G A Missense p.E600K c.1798G>A 16 50745620 CM G A Missense p.G1020E c.3059G>A 16 50765666 CM G A Missense p.G594R c.1780G>A 16 50745602 HNSC G A Missense p.G905R c.2713G>A 16 50753918 CM G A Missense p.G999E c.2996G>A 16 50763758 CM G A Missense p.R1009K c.3026G>A 16 50763788 CM G A Missense p.R373H c.1118G>A 16 50744940 UCEC G A Missense p.R713H c.2138G>A 16 50745960 STAD G A Missense p.V230M c.688G>A 16 50744510 CM G A Nonsense p.W260* c.780G>A 16 50744602 CM G A Synonymous p.A301A c.903G>A 16 50744725 UCEC G A Synonymous p.E441E c.1323G>A 16 50745145 BLCA G A Synonymous p.G594G c.1782G>A 16 50745604 CM G A Synonymous p.K508K c.1524G>A 16 50745346 CM G A Synonymous p.L985L c.2955G>A 16 50759472 CM G A Synonymous p.P723P c.2169G>A 16 50745991 NSCLC G A Synonymous p.R435R c.1305G>A 16 50745127 CM G A Synonymous p.S652S c.1956G>A 16 50745778 LUSC G C Missense p.C813S c.2438G>C 16 50746260 LUAD G C Missense p.D656H c.1966G>C 16 50745788 CM G C Missense p.G194A c.581G>C 16 50741806 LUSC G C Missense p.G78A c.233G>C 16 50733558 OV G C SpliceAcceptorSNV . c.2463-1G>C 16 50750497 STAD G T Missense p.G1032C c.3094G>T 16 50765701 STAD G T Missense p.G277V c.830G>T 16 50744652 LUAD G T Missense p.G924V c.2771G>T 16 50756589 LUSC G T Missense p.R541L c.1622G>T 16 50745444 LUAD G T Missense p.R790L c.2369G>T 16 50746191 LUSC G T Nonsense p.E205* c.613G>T 16 50741838 SCLC G T Synonymous p.L1004L c.3012G>T 16 50763774 HNSC T A Missense p.L967H c.2900T>A 16 50759417 THCA T A Synonymous p.R373R c.1119T>A 16 50744941 LUSC TCC - InFrameDeletion p.L20delL c.58_60delCTC 16 50731207 GBM T C Missense p.F488L c.1462T>C 16 50745284 STAD T G Missense p.L185R c.554T>G 16 50741779 BRCA