Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 49728662 49728662 + Missense_Mutation SNP G G C TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr3:49728662G>C c.64G>C c.(64-66)Gag>Cag p.E22Q BLCA 3 49728874 49728874 + Silent SNP G G A TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr3:49728874G>A c.99G>A c.(97-99)aaG>aaA p.K33K BLCA 3 49735549 49735549 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 g.chr3:49735549C>T c.462C>T c.(460-462)atC>atT p.I154I BLCA 3 49736208 49736208 + Silent SNP C C T TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 g.chr3:49736208C>T c.591C>T c.(589-591)atC>atT p.I197I BLCA 3 49736242 49736242 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr3:49736242C>G c.625C>G c.(625-627)Ctg>Gtg p.L209V BLCA 3 49737991 49737991 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 g.chr3:49737991C>T c.1197C>T c.(1195-1197)ggC>ggT p.G399G BLCA 3 49739787 49739787 + Silent SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr3:49739787C>T c.1578C>T c.(1576-1578)atC>atT p.I526I BLCA 3 49739828 49739828 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr3:49739828G>A c.1619G>A c.(1618-1620)aGt>aAt p.S540N BLCA 3 49740124 49740124 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr3:49740124C>G c.1688C>G c.(1687-1689)tCt>tGt p.S563C BLCA 3 49742439 49742439 + Missense_Mutation SNP T T C TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr3:49742439T>C c.1982T>C c.(1981-1983)gTt>gCt p.V661A BLCA 3 49743429 49743429 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr3:49743429C>T c.2319C>T c.(2317-2319)tcC>tcT p.S773S BLCA 3 49743442 49743442 + Missense_Mutation SNP G G A TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr3:49743442G>A c.2332G>A c.(2332-2334)Gaa>Aaa p.E778K BLCA 3 49750028 49750028 + Silent SNP C C T TCGA-FD-A6TH-01A-11D-A32B-08 TCGA-FD-A6TH-10A-01D-A329-08 g.chr3:49750028C>T c.2613C>T c.(2611-2613)atC>atT p.I871I BLCA 3 49750981 49750981 + Missense_Mutation SNP C C G TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr3:49750981C>G c.2710C>G c.(2710-2712)Ctc>Gtc p.L904V BLCA 3 49751580 49751580 + Missense_Mutation SNP G G A TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr3:49751580G>A c.2983G>A c.(2983-2985)Gag>Aag p.E995K BLCA 3 49753087 49753087 + Silent SNP C C T TCGA-E7-A5KF-01A-11D-A289-08 TCGA-E7-A5KF-10A-01D-A289-08 g.chr3:49753087C>T c.3090C>T c.(3088-3090)ctC>ctT p.L1030L BLCA 3 49757948 49757948 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 g.chr3:49757948G>C c.3505G>C c.(3505-3507)Gag>Cag p.E1169Q BLCA 3 49757948 49757948 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:49757948G>C c.3505G>C c.(3505-3507)Gag>Cag p.E1169Q BLCA 3 49758047 49758047 + Silent SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr3:49758047C>T c.3604C>T c.(3604-3606)Ctg>Ttg p.L1202L BLCA 3 49758232 49758232 + Splice_Site SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr3:49758232G>A c.e37-1 BLCA 3 49758502 49758502 + Missense_Mutation SNP C C G TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr3:49758502C>G c.3788C>G c.(3787-3789)tCt>tGt p.S1263C BLCA 3 49758659 49758659 + Missense_Mutation SNP T T G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr3:49758659T>G c.3866T>G c.(3865-3867)tTc>tGc p.F1289C BRCA 3 49735342 49735342 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:49735342A>C c.367A>C c.(367-369)Acc>Ccc p.T123P BRCA 3 49736199 49736199 + Frame_Shift_Del DEL G G - TCGA-AO-A0J3-01A-11W-A050-09 TCGA-AO-A0J3-10A-01W-A055-09 g.chr3:49736199delG c.582delG c.(580-582)gcgfs p.A194fs BRCA 3 49736493 49736493 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr3:49736493C>G c.719C>G c.(718-720)tCt>tGt p.S240C BRCA 3 49737699 49737699 + Frame_Shift_Del DEL T T - TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 g.chr3:49737699delT c.1024delT c.(1024-1026)ttgfs p.L343fs BRCA 3 49739544 49739544 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:49739544G>A c.1524G>A c.(1522-1524)ctG>ctA p.L508L BRCA 3 49742109 49742109 + Missense_Mutation SNP G G T TCGA-EW-A3U0-01A-11D-A228-09 TCGA-EW-A3U0-10A-01D-A22A-09 g.chr3:49742109G>T c.1879G>T c.(1879-1881)Gtg>Ttg p.V627L BRCA 3 49742580 49742580 + Missense_Mutation SNP G G C TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 g.chr3:49742580G>C c.2123G>C c.(2122-2124)cGc>cCc p.R708P BRCA 3 49750025 49750025 + Silent SNP C C A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 g.chr3:49750025C>A c.2610C>A c.(2608-2610)gcC>gcA p.A870A BRCA 3 49753111 49753111 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:49753111C>A c.3114C>A c.(3112-3114)aaC>aaA p.N1038K BRCA 3 49753337 49753337 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr3:49753337C>G c.3233C>G c.(3232-3234)tCg>tGg p.S1078W BRCA 3 49757963 49757963 + Missense_Mutation SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 g.chr3:49757963G>A c.3520G>A c.(3520-3522)Gtg>Atg p.V1174M BRCA 3 49758302 49758302 + Missense_Mutation SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 g.chr3:49758302C>T c.3713C>T c.(3712-3714)tCt>tTt p.S1238F CESC 3 49751254 49751254 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr3:49751254G>C c.2833G>C c.(2833-2835)Gag>Cag p.E945Q CESC 3 49758728 49758728 + Nonsense_Mutation SNP C C A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 g.chr3:49758728C>A c.3935C>A c.(3934-3936)tCa>tAa p.S1312* COAD 3 49735919 49735919 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr3:49735919G>A c.530G>A c.(529-531)cGc>cAc p.R177H COAD 3 49736971 49736971 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:49736971C>T c.835C>T c.(835-837)Ctg>Ttg p.L279L COAD 3 49737107 49737107 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:49737107C>T c.886C>T c.(886-888)Cgg>Tgg p.R296W COAD 3 49737660 49737660 + Splice_Site SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:49737660C>T c.985C>T c.(985-987)Cgc>Tgc p.R329C COAD 3 49738081 49738081 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:49738081C>T c.1216C>T c.(1216-1218)Cgg>Tgg p.R406W COAD 3 49738946 49738946 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:49738946G>A c.1300G>A c.(1300-1302)Gtc>Atc p.V434I COAD 3 49738974 49738974 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:49738974G>A c.1328G>A c.(1327-1329)cGt>cAt p.R443H COAD 3 49739836 49739836 + Missense_Mutation SNP G G A TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr3:49739836G>A c.1627G>A c.(1627-1629)Ggg>Agg p.G543R COAD 3 49740092 49740092 + Silent SNP G G A TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr3:49740092G>A c.1656G>A c.(1654-1656)gaG>gaA p.E552E COAD 3 49742142 49742142 + Missense_Mutation SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:49742142A>G c.1912A>G c.(1912-1914)Atg>Gtg p.M638V COAD 3 49743482 49743482 + Missense_Mutation SNP G G A TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr3:49743482G>A c.2372G>A c.(2371-2373)cGc>cAc p.R791H COAD 3 49743496 49743496 + Missense_Mutation SNP A A G TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr3:49743496A>G c.2386A>G c.(2386-2388)Agg>Ggg p.R796G COAD 3 49750049 49750049 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:49750049G>T c.2634G>T c.(2632-2634)aaG>aaT p.K878N COAD 3 49751345 49751345 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:49751345G>A c.2840G>A c.(2839-2841)cGt>cAt p.R947H COAD 3 49751350 49751350 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:49751350G>A c.2845G>A c.(2845-2847)Gcc>Acc p.A949T COAD 3 49751585 49751585 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr3:49751585C>T c.2988C>T c.(2986-2988)gaC>gaT p.D996D COAD 3 49753874 49753874 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:49753874T>C c.3464T>C c.(3463-3465)aTc>aCc p.I1155T COAD 3 49757961 49757961 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:49757961C>T c.3518C>T c.(3517-3519)tCa>tTa p.S1173L COAD 3 49758039 49758039 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:49758039G>A c.3596G>A c.(3595-3597)gGc>gAc p.G1199D COAD 3 49758062 49758062 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:49758062C>T c.3619C>T c.(3619-3621)Cgg>Tgg p.R1207W COAD 3 49758069 49758069 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:49758069G>A c.3626G>A c.(3625-3627)cGc>cAc p.R1209H COAD 3 49758254 49758254 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:49758254A>G c.3665A>G c.(3664-3666)gAt>gGt p.D1222G COAD 3 49758682 49758682 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:49758682T>C c.3889T>C c.(3889-3891)Tct>Cct p.S1297P COADREAD 3 49735919 49735919 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr3:49735919G>A c.530G>A c.(529-531)cGc>cAc p.R177H COADREAD 3 49736971 49736971 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:49736971C>T c.835C>T c.(835-837)Ctg>Ttg p.L279L COADREAD 3 49737107 49737107 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:49737107C>T c.886C>T c.(886-888)Cgg>Tgg p.R296W COADREAD 3 49737660 49737660 + Splice_Site SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:49737660C>T c.985C>T c.(985-987)Cgc>Tgc p.R329C COADREAD 3 49737750 49737750 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:49737750C>T c.1075C>T c.(1075-1077)Cac>Tac p.H359Y COADREAD 3 49738081 49738081 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:49738081C>T c.1216C>T c.(1216-1218)Cgg>Tgg p.R406W COADREAD 3 49738946 49738946 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:49738946G>A c.1300G>A c.(1300-1302)Gtc>Atc p.V434I COADREAD 3 49738974 49738974 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:49738974G>A c.1328G>A c.(1327-1329)cGt>cAt p.R443H COADREAD 3 49739836 49739836 + Missense_Mutation SNP G G A TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr3:49739836G>A c.1627G>A c.(1627-1629)Ggg>Agg p.G543R COADREAD 3 49740092 49740092 + Silent SNP G G A TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr3:49740092G>A c.1656G>A c.(1654-1656)gaG>gaA p.E552E COADREAD 3 49742129 49742129 + Silent SNP C C A TCGA-AG-A00C-01A-01W-A005-10 TCGA-AG-A00C-10A-01W-A005-10 g.chr3:49742129C>A c.1899C>A c.(1897-1899)ctC>ctA p.L633L COADREAD 3 49742142 49742142 + Missense_Mutation SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:49742142A>G c.1912A>G c.(1912-1914)Atg>Gtg p.M638V COADREAD 3 49743482 49743482 + Missense_Mutation SNP G G A TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr3:49743482G>A c.2372G>A c.(2371-2373)cGc>cAc p.R791H COADREAD 3 49743496 49743496 + Missense_Mutation SNP A A G TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr3:49743496A>G c.2386A>G c.(2386-2388)Agg>Ggg p.R796G COADREAD 3 49750049 49750049 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:49750049G>T c.2634G>T c.(2632-2634)aaG>aaT p.K878N COADREAD 3 49751345 49751345 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:49751345G>A c.2840G>A c.(2839-2841)cGt>cAt p.R947H COADREAD 3 49751350 49751350 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:49751350G>A c.2845G>A c.(2845-2847)Gcc>Acc p.A949T COADREAD 3 49751585 49751585 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr3:49751585C>T c.2988C>T c.(2986-2988)gaC>gaT p.D996D COADREAD 3 49753874 49753874 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:49753874T>C c.3464T>C c.(3463-3465)aTc>aCc p.I1155T COADREAD 3 49757961 49757961 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:49757961C>T c.3518C>T c.(3517-3519)tCa>tTa p.S1173L COADREAD 3 49758039 49758039 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:49758039G>A c.3596G>A c.(3595-3597)gGc>gAc p.G1199D COADREAD 3 49758062 49758062 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:49758062C>T c.3619C>T c.(3619-3621)Cgg>Tgg p.R1207W COADREAD 3 49758069 49758069 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:49758069G>A c.3626G>A c.(3625-3627)cGc>cAc p.R1209H COADREAD 3 49758254 49758254 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:49758254A>G c.3665A>G c.(3664-3666)gAt>gGt p.D1222G COADREAD 3 49758682 49758682 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:49758682T>C c.3889T>C c.(3889-3891)Tct>Cct p.S1297P DLBC 3 49749979 49749979 + Missense_Mutation SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr3:49749979C>T c.2564C>T c.(2563-2565)aCa>aTa p.T855I DLBC 3 49751413 49751413 + Silent SNP C C T TCGA-FA-A7Q1-01A-11D-A382-10 TCGA-FA-A7Q1-10A-01D-A385-10 g.chr3:49751413C>T c.2908C>T c.(2908-2910)Ctg>Ttg p.L970L DLBC 3 49757994 49757994 + Missense_Mutation SNP G G A TCGA-FF-8061-01A-11D-2210-10 TCGA-FF-8061-10A-01D-2210-10 g.chr3:49757994G>A c.3551G>A c.(3550-3552)cGc>cAc p.R1184H ESCA 3 49736506 49736506 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr3:49736506C>T c.732C>T c.(730-732)tcC>tcT p.S244S ESCA 3 49739576 49739576 + Splice_Site SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 g.chr3:49739576G>C c.1556G>C c.(1555-1557)gGg>gCg p.G519A ESCA 3 49739823 49739823 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr3:49739823C>T c.1614C>T c.(1612-1614)aaC>aaT p.N538N GBM 3 49735348 49735348 + Missense_Mutation SNP C C T TCGA-06-6701-01A-11D-1845-08 TCGA-06-6701-10A-01D-1845-08 g.chr3:49735348C>T c.373C>T c.(373-375)Cgc>Tgc p.R125C GBM 3 49737157 49737157 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 g.chr3:49737157C>T c.936C>T c.(934-936)acC>acT p.T312T GBMLGG 3 49735348 49735348 + Missense_Mutation SNP C C T TCGA-06-6701-01A-11D-1845-08 TCGA-06-6701-10A-01D-1845-08 g.chr3:49735348C>T c.373C>T c.(373-375)Cgc>Tgc p.R125C GBMLGG 3 49737157 49737157 + Silent SNP C C T TCGA-76-4929-01A-01D-1486-08 TCGA-76-4929-10A-01D-1486-08 g.chr3:49737157C>T c.936C>T c.(934-936)acC>acT p.T312T GBMLGG 3 49751542 49751542 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49751542G>A c.2945G>A c.(2944-2946)cGc>cAc p.R982H HNSC 3 49735362 49735362 + Silent SNP C C T TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr3:49735362C>T c.387C>T c.(385-387)tgC>tgT p.C129C HNSC 3 49736208 49736208 + Silent SNP C C T TCGA-CV-A6JN-01A-11D-A31L-08 TCGA-CV-A6JN-10A-01D-A31J-08 g.chr3:49736208C>T c.591C>T c.(589-591)atC>atT p.I197I HNSC 3 49736230 49736230 + Missense_Mutation SNP G G C TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr3:49736230G>C c.613G>C c.(613-615)Gat>Cat p.D205H HNSC 3 49738099 49738099 + Silent SNP C C T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chr3:49738099C>T c.1234C>T c.(1234-1236)Ctg>Ttg p.L412L HNSC 3 49738118 49738118 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 g.chr3:49738118G>A c.1253G>A c.(1252-1254)cGc>cAc p.R418H HNSC 3 49742142 49742142 + Missense_Mutation SNP A A G TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 g.chr3:49742142A>G c.1912A>G c.(1912-1914)Atg>Gtg p.M638V HNSC 3 49742512 49742512 + Silent SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 g.chr3:49742512C>T c.2055C>T c.(2053-2055)ctC>ctT p.L685L HNSC 3 49744294 49744294 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chr3:49744294G>A c.2459G>A c.(2458-2460)cGc>cAc p.R820H HNSC 3 49753038 49753038 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:49753038A>G c.3041A>G c.(3040-3042)cAc>cGc p.H1014R HNSC 3 49758486 49758487 + Frame_Shift_Ins INS - - A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr3:49758486_49758487insA c.3772_3773insA c.(3772-3774)tatfs p.Y1258fs KIPAN 3 49734822 49734822 + Missense_Mutation SNP T T C TCGA-BP-5000-01A-01D-1462-08 TCGA-BP-5000-11A-01D-1462-08 g.chr3:49734822T>C c.274T>C c.(274-276)Tcc>Ccc p.S92P KIPAN 3 49734840 49734840 + Missense_Mutation SNP C C A TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr3:49734840C>A c.292C>A c.(292-294)Cac>Aac p.H98N KIPAN 3 49737755 49737755 + Missense_Mutation SNP G G T TCGA-B0-4691-01A-01D-1361-10 TCGA-B0-4691-11A-01D-1361-10 g.chr3:49737755G>T c.1080G>T c.(1078-1080)caG>caT p.Q360H KIPAN 3 49740161 49740162 + Frame_Shift_Ins INS - - A TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr3:49740161_49740162insA c.1725_1726insA c.(1726-1728)aatfs p.N576fs KIRC 3 49734822 49734822 + Missense_Mutation SNP T T C TCGA-BP-5000-01A-01D-1462-08 TCGA-BP-5000-11A-01D-1462-08 g.chr3:49734822T>C c.274T>C c.(274-276)Tcc>Ccc p.S92P KIRC 3 49737755 49737755 + Missense_Mutation SNP G G T TCGA-B0-4691-01A-01D-1361-10 TCGA-B0-4691-11A-01D-1361-10 g.chr3:49737755G>T c.1080G>T c.(1078-1080)caG>caT p.Q360H KIRP 3 49734840 49734840 + Missense_Mutation SNP C C A TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr3:49734840C>A c.292C>A c.(292-294)Cac>Aac p.H98N KIRP 3 49740161 49740162 + Frame_Shift_Ins INS - - A TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr3:49740161_49740162insA c.1725_1726insA c.(1726-1728)aatfs p.N576fs LGG 3 49751542 49751542 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49751542G>A c.2945G>A c.(2944-2946)cGc>cAc p.R982H LIHC 3 49735904 49735904 + Missense_Mutation SNP C C T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr3:49735904C>T c.515C>T c.(514-516)gCc>gTc p.A172V LIHC 3 49737930 49737930 + Missense_Mutation SNP A A T TCGA-DD-AAD6-01A-11D-A40R-10 TCGA-DD-AAD6-10A-01D-A40U-10 g.chr3:49737930A>T c.1136A>T c.(1135-1137)aAg>aTg p.K379M LIHC 3 49738928 49738928 + Missense_Mutation SNP G G T TCGA-G3-A25W-01A-11D-A16V-10 TCGA-G3-A25W-11A-12D-A16V-10 g.chr3:49738928G>T c.1282G>T c.(1282-1284)Gac>Tac p.D428Y LIHC 3 49738946 49738946 + Missense_Mutation SNP G G T TCGA-DD-A11D-01A-11D-A12Z-10 TCGA-DD-A11D-11A-12D-A12Z-10 g.chr3:49738946G>T c.1300G>T c.(1300-1302)Gtc>Ttc p.V434F LIHC 3 49739578 49739578 + Splice_Site SNP G G A TCGA-DD-A1EK-01A-11D-A20W-10 TCGA-DD-A1EK-10A-01D-A20W-10 g.chr3:49739578G>A c.e18+1 LIHC 3 49740083 49740083 + Frame_Shift_Del DEL C C - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr3:49740083delC c.1647delC c.(1645-1647)tgcfs p.C549fs LIHC 3 49740924 49740924 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr3:49740924delG c.1815delG c.(1813-1815)ctgfs p.L605fs LIHC 3 49744294 49744294 + Missense_Mutation SNP G G T TCGA-CC-A7II-01A-11D-A33K-10 TCGA-CC-A7II-10A-01D-A33K-10 g.chr3:49744294G>T c.2459G>T c.(2458-2460)cGc>cTc p.R820L LIHC 3 49749928 49749930 + In_Frame_Del DEL TCT TCT - TCGA-DD-A73C-01A-12D-A33K-10 TCGA-DD-A73C-10A-01D-A33K-10 g.chr3:49749928_49749930delTCT c.2513_2515delTCT c.(2512-2517)atctac>aac p.838_839IY>N LIHC 3 49751388 49751388 + Silent SNP G G A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr3:49751388G>A c.2883G>A c.(2881-2883)cgG>cgA p.R961R LIHC 3 49753432 49753432 + Missense_Mutation SNP C C T TCGA-DD-AADR-01A-11D-A40R-10 TCGA-DD-AADR-10A-01D-A40U-10 g.chr3:49753432C>T c.3328C>T c.(3328-3330)Cgt>Tgt p.R1110C LUAD 3 49735535 49735535 + Missense_Mutation SNP G G T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr3:49735535G>T c.448G>T c.(448-450)Ggc>Tgc p.G150C LUAD 3 49736441 49736441 + Missense_Mutation SNP G G A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr3:49736441G>A c.667G>A c.(667-669)Gag>Aag p.E223K LUAD 3 49749945 49749945 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr3:49749945G>A c.2530G>A c.(2530-2532)Gtc>Atc p.V844I LUAD 3 49750010 49750010 + Silent SNP C C T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr3:49750010C>T c.2595C>T c.(2593-2595)ttC>ttT p.F865F LUAD 3 49753568 49753568 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr3:49753568G>C c.3373G>C c.(3373-3375)Gag>Cag p.E1125Q LUAD 3 49758482 49758482 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 g.chr3:49758482C>G c.3768C>G c.(3766-3768)atC>atG p.I1256M LUAD 3 49758500 49758500 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr3:49758500C>T c.3786C>T c.(3784-3786)atC>atT p.I1262I LUSC 3 49736430 49736430 + Missense_Mutation SNP G G A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr3:49736430G>A c.656G>A c.(655-657)gGc>gAc p.G219D LUSC 3 49742178 49742178 + Missense_Mutation SNP G G T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr3:49742178G>T c.1948G>T c.(1948-1950)Gct>Tct p.A650S LUSC 3 49753120 49753120 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr3:49753120C>T c.3123C>T c.(3121-3123)ttC>ttT p.F1041F LUSC 3 49758714 49758714 + Silent SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr3:49758714G>T c.3921G>T c.(3919-3921)acG>acT p.T1307T OV 3 49751566 49751566 + Missense_Mutation SNP T T A TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 g.chr3:49751566T>A c.2969T>A c.(2968-2970)cTg>cAg p.L990Q PAAD 3 49735349 49735349 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49735349G>A c.374G>A c.(373-375)cGc>cAc p.R125H PAAD 3 49735557 49735557 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49735557G>A c.470G>A c.(469-471)cGc>cAc p.R157H PAAD 3 49738081 49738081 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 g.chr3:49738081C>T c.1216C>T c.(1216-1218)Cgg>Tgg p.R406W PAAD 3 49740132 49740132 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49740132C>T c.1696C>T c.(1696-1698)Cgc>Tgc p.R566C PAAD 3 49742976 49742976 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49742976G>T c.2168G>T c.(2167-2169)aGc>aTc p.S723I PAAD 3 49749963 49749963 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49749963G>A c.2548G>A c.(2548-2550)Gag>Aag p.E850K PAAD 3 49753080 49753080 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49753080G>T c.3083G>T c.(3082-3084)aGc>aTc p.S1028I PAAD 3 49753586 49753586 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49753586C>T c.3391C>T c.(3391-3393)Cgt>Tgt p.R1131C PAAD 3 49753836 49753836 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49753836C>T c.3426C>T c.(3424-3426)agC>agT p.S1142S PAAD 3 49757969 49757969 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49757969C>A c.3526C>A c.(3526-3528)Ctg>Atg p.L1176M PRAD 3 49735362 49735362 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:49735362C>T c.387C>T c.(385-387)tgC>tgT p.C129C PRAD 3 49753836 49753836 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:49753836C>T c.3426C>T c.(3424-3426)agC>agT p.S1142S PRAD 3 49758036 49758036 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:49758036C>A c.3593C>A c.(3592-3594)cCt>cAt p.P1198H READ 3 49737750 49737750 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:49737750C>T c.1075C>T c.(1075-1077)Cac>Tac p.H359Y READ 3 49742129 49742129 + Silent SNP C C A TCGA-AG-A00C-01A-01W-A005-10 TCGA-AG-A00C-10A-01W-A005-10 g.chr3:49742129C>A c.1899C>A c.(1897-1899)ctC>ctA p.L633L SARC 3 49749965 49749965 + Missense_Mutation SNP G G T TCGA-IS-A3K8-01A-11D-A21Q-09 TCGA-IS-A3K8-10A-01D-A21Q-09 g.chr3:49749965G>T c.2550G>T c.(2548-2550)gaG>gaT p.E850D SKCM 3 49728662 49728662 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:49728662G>A c.64G>A c.(64-66)Gag>Aag p.E22K SKCM 3 49735489 49735489 + Silent SNP A A G TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 g.chr3:49735489A>G c.402A>G c.(400-402)aaA>aaG p.K134K SKCM 3 49735880 49735880 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:49735880T>C c.491T>C c.(490-492)gTt>gCt p.V164A SKCM 3 49736246 49736246 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr3:49736246C>T c.629C>T c.(628-630)tCc>tTc p.S210F SKCM 3 49736478 49736478 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:49736478C>T c.704C>T c.(703-705)cCa>cTa p.P235L SKCM 3 49736512 49736512 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:49736512C>T c.738C>T c.(736-738)gcC>gcT p.A246A SKCM 3 49737767 49737767 + Silent SNP C C T TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr3:49737767C>T c.1092C>T c.(1090-1092)ctC>ctT p.L364L SKCM 3 49737904 49737904 + Splice_Site SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr3:49737904G>A c.e14-1 SKCM 3 49737905 49737905 + Splice_Site SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr3:49737905G>A c.1111G>A c.(1111-1113)Gac>Aac p.D371N SKCM 3 49738092 49738092 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr3:49738092C>T c.1227C>T c.(1225-1227)atC>atT p.I409I SKCM 3 49738101 49738101 + Silent SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr3:49738101G>A c.1236G>A c.(1234-1236)ctG>ctA p.L412L SKCM 3 49738103 49738103 + Missense_Mutation SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr3:49738103G>A c.1238G>A c.(1237-1239)aGg>aAg p.R413K SKCM 3 49740122 49740122 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr3:49740122C>T c.1686C>T c.(1684-1686)atC>atT p.I562I SKCM 3 49742550 49742550 + Missense_Mutation SNP C C T TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chr3:49742550C>T c.2093C>T c.(2092-2094)cCt>cTt p.P698L SKCM 3 49743008 49743008 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:49743008C>T c.2200C>T c.(2200-2202)Ccc>Tcc p.P734S SKCM 3 49743009 49743009 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:49743009C>T c.2201C>T c.(2200-2202)cCc>cTc p.P734L SKCM 3 49743012 49743012 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr3:49743012C>T c.2204C>T c.(2203-2205)cCc>cTc p.P735L SKCM 3 49743429 49743429 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:49743429C>T c.2319C>T c.(2317-2319)tcC>tcT p.S773S SKCM 3 49749921 49749921 + Silent SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr3:49749921C>T c.2506C>T c.(2506-2508)Ctg>Ttg p.L836L SKCM 3 49749975 49749975 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:49749975C>T c.2560C>T c.(2560-2562)Cgc>Tgc p.R854C SKCM 3 49751367 49751367 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr3:49751367C>T c.2862C>T c.(2860-2862)ctC>ctT p.L954L SKCM 3 49753392 49753392 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr3:49753392C>T c.3288C>T c.(3286-3288)ttC>ttT p.F1096F SKCM 3 49753392 49753392 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr3:49753392C>T c.3288C>T c.(3286-3288)ttC>ttT p.F1096F SKCM 3 49753393 49753393 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr3:49753393C>T c.3289C>T c.(3289-3291)Ctt>Ttt p.L1097F SKCM 3 49753850 49753850 + Missense_Mutation SNP C C T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr3:49753850C>T c.3440C>T c.(3439-3441)cCc>cTc p.P1147L SKCM 3 49753850 49753850 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr3:49753850C>T c.3440C>T c.(3439-3441)cCc>cTc p.P1147L SKCM 3 49753851 49753851 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr3:49753851C>T c.3441C>T c.(3439-3441)ccC>ccT p.P1147P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 49722502 49722502 single base substitution C G upstream_gene_variant BLCA-CN 3 49723856 49723856 single base substitution A C upstream_gene_variant BLCA-CN 3 49723881 49723881 single base substitution G C upstream_gene_variant BLCA-CN 3 49724172 49724172 single base substitution C T upstream_gene_variant BLCA-CN 3 49724183 49724183 single base substitution C G upstream_gene_variant BLCA-CN 3 49724197 49724197 single base substitution T C upstream_gene_variant BLCA-CN 3 49725034 49725034 single base substitution T A upstream_gene_variant BLCA-CN 3 49725038 49725038 single base substitution G C upstream_gene_variant BLCA-CN 3 49728890 49728890 single base substitution C T exon_variant BLCA-CN 3 49728890 49728890 single base substitution C T intron_variant BLCA-CN 3 49728890 49728890 single base substitution C T synonymous_variant L39L 115C>T BLCA-CN 3 49756347 49756347 single base substitution G A downstream_gene_variant BLCA-CN 3 49756347 49756347 single base substitution G A intron_variant BLCA-CN 3 49756347 49756347 single base substitution G A upstream_gene_variant BLCA-US 3 49722087 49722087 single base substitution G T upstream_gene_variant BLCA-US 3 49724610 49724610 single base substitution C G upstream_gene_variant BLCA-US 3 49724697 49724697 single base substitution A T upstream_gene_variant BLCA-US 3 49736242 49736242 single base substitution C G downstream_gene_variant BLCA-US 3 49736242 49736242 single base substitution C G exon_variant BLCA-US 3 49736242 49736242 single base substitution C G missense_variant L209V 625C>G BLCA-US 3 49736242 49736242 single base substitution C G missense_variant L63V 187C>G BLCA-US 3 49736242 49736242 single base substitution C G upstream_gene_variant BLCA-US 3 49742439 49742439 single base substitution T C downstream_gene_variant BLCA-US 3 49742439 49742439 single base substitution T C exon_variant BLCA-US 3 49742439 49742439 single base substitution T C intron_variant BLCA-US 3 49742439 49742439 single base substitution T C missense_variant V515A 1544T>C BLCA-US 3 49742439 49742439 single base substitution T C missense_variant V661A 1982T>C BLCA-US 3 49756011 49756011 single base substitution C T downstream_gene_variant BLCA-US 3 49756011 49756011 single base substitution C T exon_variant BLCA-US 3 49756011 49756011 single base substitution C T intron_variant BLCA-US 3 49756011 49756011 single base substitution C T upstream_gene_variant BLCA-US 3 49756064 49756064 single base substitution G C downstream_gene_variant BLCA-US 3 49756064 49756064 single base substitution G C intron_variant BLCA-US 3 49756064 49756064 single base substitution G C upstream_gene_variant BLCA-US 3 49756220 49756220 single base substitution G A downstream_gene_variant BLCA-US 3 49756220 49756220 single base substitution G A intron_variant BLCA-US 3 49756220 49756220 single base substitution G A upstream_gene_variant BLCA-US 3 49756782 49756782 single base substitution G C downstream_gene_variant BLCA-US 3 49756782 49756782 single base substitution G C intron_variant BLCA-US 3 49756782 49756782 single base substitution G C upstream_gene_variant BLCA-US 3 49756821 49756821 single base substitution G T downstream_gene_variant BLCA-US 3 49756821 49756821 single base substitution G T intron_variant BLCA-US 3 49756821 49756821 single base substitution G T upstream_gene_variant BLCA-US 3 49757948 49757948 single base substitution G C 3_prime_UTR_variant BLCA-US 3 49757948 49757948 single base substitution G C downstream_gene_variant BLCA-US 3 49757948 49757948 single base substitution G C exon_variant BLCA-US 3 49757948 49757948 single base substitution G C missense_variant E1169Q 3505G>C BLCA-US 3 49757948 49757948 single base substitution G C missense_variant E281Q 841G>C BLCA-US 3 49757948 49757948 single base substitution G C upstream_gene_variant BLCA-US 3 49759286 49759286 single base substitution C T downstream_gene_variant BLCA-US 3 49759447 49759447 single base substitution G A downstream_gene_variant BOCA-FR 3 49725948 49725948 single base substitution C T upstream_gene_variant BOCA-FR 3 49739160 49739160 single base substitution G A downstream_gene_variant BOCA-FR 3 49739160 49739160 single base substitution G A intron_variant BRCA-EU 3 49722926 49722926 single base substitution C T upstream_gene_variant BRCA-EU 3 49723913 49723913 single base substitution C T upstream_gene_variant BRCA-EU 3 49724011 49724011 single base substitution G T upstream_gene_variant BRCA-EU 3 49724304 49724304 single base substitution T A upstream_gene_variant BRCA-EU 3 49726973 49726973 single base substitution G C 5_prime_UTR_variant BRCA-EU 3 49726973 49726973 single base substitution G C upstream_gene_variant BRCA-EU 3 49727141 49727141 single base substitution G A 5_prime_UTR_variant BRCA-EU 3 49727141 49727141 single base substitution G A intron_variant BRCA-EU 3 49727526 49727526 single base substitution G A intron_variant BRCA-EU 3 49730758 49730758 single base substitution G C intron_variant BRCA-EU 3 49731164 49731164 single base substitution A G intron_variant BRCA-EU 3 49731243 49731243 single base substitution A T intron_variant BRCA-EU 3 49731594 49731594 deletion of <=200bp A - intron_variant BRCA-EU 3 49731933 49731933 single base substitution G T intron_variant BRCA-EU 3 49732583 49732583 single base substitution G T intron_variant BRCA-EU 3 49732703 49732703 single base substitution T A intron_variant BRCA-EU 3 49733061 49733061 single base substitution G A intron_variant BRCA-EU 3 49733061 49733061 single base substitution G A upstream_gene_variant BRCA-EU 3 49734535 49734535 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 49734535 49734535 single base substitution C G intron_variant BRCA-EU 3 49734535 49734535 single base substitution C G upstream_gene_variant BRCA-EU 3 49734589 49734589 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 49734589 49734589 single base substitution T C exon_variant BRCA-EU 3 49734589 49734589 single base substitution T C intron_variant BRCA-EU 3 49734589 49734589 single base substitution T C missense_variant F61L 181T>C BRCA-EU 3 49734589 49734589 single base substitution T C upstream_gene_variant BRCA-EU 3 49735278 49735278 single base substitution G C downstream_gene_variant BRCA-EU 3 49735278 49735278 single base substitution G C intron_variant BRCA-EU 3 49735278 49735278 single base substitution G C upstream_gene_variant BRCA-EU 3 49738172 49738172 single base substitution G A downstream_gene_variant BRCA-EU 3 49738172 49738172 single base substitution G A intron_variant BRCA-EU 3 49741411 49741411 single base substitution G A downstream_gene_variant BRCA-EU 3 49741411 49741411 single base substitution G A intron_variant BRCA-EU 3 49743730 49743730 single base substitution C T downstream_gene_variant BRCA-EU 3 49743730 49743730 single base substitution C T intron_variant BRCA-EU 3 49745502 49745502 single base substitution C G intron_variant BRCA-EU 3 49745502 49745502 single base substitution C G upstream_gene_variant BRCA-EU 3 49746069 49746069 single base substitution C T intron_variant BRCA-EU 3 49746069 49746069 single base substitution C T upstream_gene_variant BRCA-EU 3 49746294 49746294 single base substitution T G intron_variant BRCA-EU 3 49746294 49746294 single base substitution T G upstream_gene_variant BRCA-EU 3 49747747 49747747 single base substitution C T intron_variant BRCA-EU 3 49747747 49747747 single base substitution C T upstream_gene_variant BRCA-EU 3 49748583 49748583 single base substitution A C intron_variant BRCA-EU 3 49748583 49748583 single base substitution A C upstream_gene_variant BRCA-EU 3 49748604 49748604 single base substitution C A intron_variant BRCA-EU 3 49748604 49748604 single base substitution C A upstream_gene_variant BRCA-EU 3 49749924 49749924 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 49749924 49749924 single base substitution G A exon_variant BRCA-EU 3 49749924 49749924 single base substitution G A missense_variant D691N 2071G>A BRCA-EU 3 49749924 49749924 single base substitution G A missense_variant D837N 2509G>A BRCA-EU 3 49749924 49749924 single base substitution G A upstream_gene_variant BRCA-EU 3 49750362 49750362 single base substitution G T downstream_gene_variant BRCA-EU 3 49750362 49750362 single base substitution G T exon_variant BRCA-EU 3 49750362 49750362 single base substitution G T intron_variant BRCA-EU 3 49750362 49750362 single base substitution G T upstream_gene_variant BRCA-EU 3 49750799 49750799 single base substitution C A downstream_gene_variant BRCA-EU 3 49750799 49750799 single base substitution C A exon_variant BRCA-EU 3 49750799 49750799 single base substitution C A intron_variant BRCA-EU 3 49750799 49750799 single base substitution C A upstream_gene_variant BRCA-EU 3 49754822 49754822 single base substitution C T downstream_gene_variant BRCA-EU 3 49754822 49754822 single base substitution C T intron_variant BRCA-EU 3 49754822 49754822 single base substitution C T upstream_gene_variant BRCA-EU 3 49756511 49756511 single base substitution C G downstream_gene_variant BRCA-EU 3 49756511 49756511 single base substitution C G intron_variant BRCA-EU 3 49756511 49756511 single base substitution C G upstream_gene_variant BRCA-EU 3 49756549 49756549 single base substitution G A downstream_gene_variant BRCA-EU 3 49756549 49756549 single base substitution G A intron_variant BRCA-EU 3 49756549 49756549 single base substitution G A upstream_gene_variant BRCA-EU 3 49757168 49757168 single base substitution G A downstream_gene_variant BRCA-EU 3 49757168 49757168 single base substitution G A intron_variant BRCA-EU 3 49757168 49757168 single base substitution G A upstream_gene_variant BRCA-EU 3 49758276 49758276 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 49758276 49758276 single base substitution G C downstream_gene_variant BRCA-EU 3 49758276 49758276 single base substitution G C exon_variant BRCA-EU 3 49758276 49758276 single base substitution G C missense_variant Q1229H 3687G>C BRCA-EU 3 49758276 49758276 single base substitution G C missense_variant Q341H 1023G>C BRCA-EU 3 49758370 49758370 single base substitution G C downstream_gene_variant BRCA-EU 3 49758370 49758370 single base substitution G C exon_variant BRCA-EU 3 49758370 49758370 single base substitution G C intron_variant BRCA-EU 3 49758570 49758570 single base substitution G A downstream_gene_variant BRCA-EU 3 49758570 49758570 single base substitution G A intron_variant BRCA-EU 3 49760727 49760727 single base substitution G A downstream_gene_variant BRCA-EU 3 49761665 49761665 single base substitution C G downstream_gene_variant BRCA-EU 3 49762763 49762763 single base substitution G A downstream_gene_variant BRCA-FR 3 49729105 49729105 single base substitution G A intron_variant BRCA-FR 3 49743730 49743730 single base substitution C T downstream_gene_variant BRCA-FR 3 49743730 49743730 single base substitution C T intron_variant BRCA-FR 3 49748003 49748003 single base substitution G A intron_variant BRCA-FR 3 49748003 49748003 single base substitution G A upstream_gene_variant BRCA-FR 3 49751446 49751446 single base substitution G A downstream_gene_variant BRCA-FR 3 49751446 49751446 single base substitution G A intron_variant BRCA-FR 3 49751446 49751446 single base substitution G A upstream_gene_variant BRCA-KR 3 49723296 49723296 single base substitution G A upstream_gene_variant BRCA-KR 3 49723823 49723823 single base substitution A G upstream_gene_variant BRCA-UK 3 49725908 49725908 single base substitution G C upstream_gene_variant BRCA-UK 3 49734373 49734373 single base substitution C G intron_variant BRCA-UK 3 49734373 49734373 single base substitution C G upstream_gene_variant BRCA-UK 3 49739837 49739837 single base substitution G T downstream_gene_variant BRCA-UK 3 49739837 49739837 single base substitution G T missense_variant G397V 1190G>T BRCA-UK 3 49739837 49739837 single base substitution G T missense_variant G543V 1628G>T BRCA-UK 3 49739837 49739837 single base substitution G T splice_region_variant BRCA-UK 3 49740679 49740679 single base substitution G C downstream_gene_variant BRCA-UK 3 49740679 49740679 single base substitution G C intron_variant BRCA-UK 3 49740964 49740964 single base substitution G A downstream_gene_variant BRCA-UK 3 49740964 49740964 single base substitution G A splice_region_variant BRCA-UK 3 49744084 49744084 single base substitution G A downstream_gene_variant BRCA-UK 3 49744084 49744084 single base substitution G A intron_variant BRCA-UK 3 49744087 49744087 single base substitution G A downstream_gene_variant BRCA-UK 3 49744087 49744087 single base substitution G A intron_variant BRCA-UK 3 49744135 49744135 single base substitution G A downstream_gene_variant BRCA-UK 3 49744135 49744135 single base substitution G A intron_variant BRCA-UK 3 49744259 49744259 single base substitution G A 3_prime_UTR_variant BRCA-UK 3 49744259 49744259 single base substitution G A downstream_gene_variant BRCA-UK 3 49744259 49744259 single base substitution G A exon_variant BRCA-UK 3 49744259 49744259 single base substitution G A synonymous_variant Q662Q 1986G>A BRCA-UK 3 49744259 49744259 single base substitution G A synonymous_variant Q808Q 2424G>A BRCA-UK 3 49745020 49745020 single base substitution G A intron_variant BRCA-UK 3 49745020 49745020 single base substitution G A upstream_gene_variant BRCA-UK 3 49745502 49745502 single base substitution C G intron_variant BRCA-UK 3 49745502 49745502 single base substitution C G upstream_gene_variant BRCA-UK 3 49745940 49745940 single base substitution G C intron_variant BRCA-UK 3 49745940 49745940 single base substitution G C upstream_gene_variant BRCA-UK 3 49746312 49746312 single base substitution G A intron_variant BRCA-UK 3 49746312 49746312 single base substitution G A upstream_gene_variant BRCA-UK 3 49746752 49746752 single base substitution G C intron_variant BRCA-UK 3 49746752 49746752 single base substitution G C upstream_gene_variant BRCA-UK 3 49751556 49751556 single base substitution C T 3_prime_UTR_variant BRCA-UK 3 49751556 49751556 single base substitution C T downstream_gene_variant BRCA-UK 3 49751556 49751556 single base substitution C T exon_variant BRCA-UK 3 49751556 49751556 single base substitution C T missense_variant P987S 2959C>T BRCA-UK 3 49751556 49751556 single base substitution C T missense_variant P99S 295C>T BRCA-UK 3 49751556 49751556 single base substitution C T upstream_gene_variant BRCA-UK 3 49758570 49758570 single base substitution G A downstream_gene_variant BRCA-UK 3 49758570 49758570 single base substitution G A intron_variant BRCA-US 3 49722303 49722303 single base substitution G A upstream_gene_variant BRCA-US 3 49722497 49722497 insertion of <=200bp - C upstream_gene_variant BRCA-US 3 49723823 49723823 single base substitution A G upstream_gene_variant BRCA-US 3 49723916 49723916 single base substitution T G upstream_gene_variant BRCA-US 3 49724598 49724598 single base substitution G C upstream_gene_variant BRCA-US 3 49726070 49726070 single base substitution G A upstream_gene_variant BRCA-US 3 49735342 49735342 single base substitution A C 5_prime_UTR_variant BRCA-US 3 49735342 49735342 single base substitution A C downstream_gene_variant BRCA-US 3 49735342 49735342 single base substitution A C exon_variant BRCA-US 3 49735342 49735342 single base substitution A C missense_variant T123P 367A>C BRCA-US 3 49735342 49735342 single base substitution A C upstream_gene_variant BRCA-US 3 49736199 49736199 deletion of <=200bp G - downstream_gene_variant BRCA-US 3 49736199 49736199 deletion of <=200bp G - exon_variant BRCA-US 3 49736199 49736199 deletion of <=200bp G - frameshift_variant A194 BRCA-US 3 49736199 49736199 deletion of <=200bp G - frameshift_variant A48 BRCA-US 3 49736199 49736199 deletion of <=200bp G - upstream_gene_variant BRCA-US 3 49736493 49736493 single base substitution C G downstream_gene_variant BRCA-US 3 49736493 49736493 single base substitution C G exon_variant BRCA-US 3 49736493 49736493 single base substitution C G missense_variant S240C 719C>G BRCA-US 3 49736493 49736493 single base substitution C G missense_variant S94C 281C>G BRCA-US 3 49736493 49736493 single base substitution C G upstream_gene_variant BRCA-US 3 49737699 49737699 deletion of <=200bp T - downstream_gene_variant BRCA-US 3 49737699 49737699 deletion of <=200bp T - exon_variant BRCA-US 3 49737699 49737699 deletion of <=200bp T - frameshift_variant L196 BRCA-US 3 49737699 49737699 deletion of <=200bp T - frameshift_variant L342 BRCA-US 3 49737699 49737699 deletion of <=200bp T - upstream_gene_variant BRCA-US 3 49739544 49739544 single base substitution G A downstream_gene_variant BRCA-US 3 49739544 49739544 single base substitution G A exon_variant BRCA-US 3 49739544 49739544 single base substitution G A synonymous_variant L362L 1086G>A BRCA-US 3 49739544 49739544 single base substitution G A synonymous_variant L508L 1524G>A BRCA-US 3 49742109 49742109 single base substitution G T downstream_gene_variant BRCA-US 3 49742109 49742109 single base substitution G T exon_variant BRCA-US 3 49742109 49742109 single base substitution G T missense_variant V481L 1441G>T BRCA-US 3 49742109 49742109 single base substitution G T missense_variant V627L 1879G>T BRCA-US 3 49742580 49742580 single base substitution G C downstream_gene_variant BRCA-US 3 49742580 49742580 single base substitution G C exon_variant BRCA-US 3 49742580 49742580 single base substitution G C missense_variant R562P 1685G>C BRCA-US 3 49742580 49742580 single base substitution G C missense_variant R708P 2123G>C BRCA-US 3 49750025 49750025 single base substitution C A 3_prime_UTR_variant BRCA-US 3 49750025 49750025 single base substitution C A exon_variant BRCA-US 3 49750025 49750025 single base substitution C A synonymous_variant A724A 2172C>A BRCA-US 3 49750025 49750025 single base substitution C A synonymous_variant A870A 2610C>A BRCA-US 3 49750025 49750025 single base substitution C A upstream_gene_variant BRCA-US 3 49753111 49753111 single base substitution C A 3_prime_UTR_variant BRCA-US 3 49753111 49753111 single base substitution C A downstream_gene_variant BRCA-US 3 49753111 49753111 single base substitution C A exon_variant BRCA-US 3 49753111 49753111 single base substitution C A missense_variant N1038K 3114C>A BRCA-US 3 49753111 49753111 single base substitution C A missense_variant N150K 450C>A BRCA-US 3 49753111 49753111 single base substitution C A upstream_gene_variant BRCA-US 3 49753337 49753337 single base substitution C G 3_prime_UTR_variant BRCA-US 3 49753337 49753337 single base substitution C G downstream_gene_variant BRCA-US 3 49753337 49753337 single base substitution C G exon_variant BRCA-US 3 49753337 49753337 single base substitution C G missense_variant S1078W 3233C>G BRCA-US 3 49753337 49753337 single base substitution C G missense_variant S190W 569C>G BRCA-US 3 49753337 49753337 single base substitution C G upstream_gene_variant BRCA-US 3 49755912 49755912 single base substitution G A downstream_gene_variant BRCA-US 3 49755912 49755912 single base substitution G A exon_variant BRCA-US 3 49755912 49755912 single base substitution G A intron_variant BRCA-US 3 49755912 49755912 single base substitution G A upstream_gene_variant BRCA-US 3 49756337 49756337 single base substitution G C downstream_gene_variant BRCA-US 3 49756337 49756337 single base substitution G C intron_variant BRCA-US 3 49756337 49756337 single base substitution G C upstream_gene_variant BRCA-US 3 49756369 49756369 single base substitution A G downstream_gene_variant BRCA-US 3 49756369 49756369 single base substitution A G intron_variant BRCA-US 3 49756369 49756369 single base substitution A G upstream_gene_variant BRCA-US 3 49756562 49756562 single base substitution G T downstream_gene_variant BRCA-US 3 49756562 49756562 single base substitution G T intron_variant BRCA-US 3 49756562 49756562 single base substitution G T upstream_gene_variant BRCA-US 3 49756806 49756806 single base substitution G C downstream_gene_variant BRCA-US 3 49756806 49756806 single base substitution G C intron_variant BRCA-US 3 49756806 49756806 single base substitution G C upstream_gene_variant BRCA-US 3 49757963 49757963 single base substitution G A 3_prime_UTR_variant BRCA-US 3 49757963 49757963 single base substitution G A downstream_gene_variant BRCA-US 3 49757963 49757963 single base substitution G A exon_variant BRCA-US 3 49757963 49757963 single base substitution G A missense_variant V1174M 3520G>A BRCA-US 3 49757963 49757963 single base substitution G A missense_variant V286M 856G>A BRCA-US 3 49757963 49757963 single base substitution G A upstream_gene_variant BRCA-US 3 49758302 49758302 single base substitution C T 3_prime_UTR_variant BRCA-US 3 49758302 49758302 single base substitution C T downstream_gene_variant BRCA-US 3 49758302 49758302 single base substitution C T exon_variant BRCA-US 3 49758302 49758302 single base substitution C T missense_variant S1238F 3713C>T BRCA-US 3 49758302 49758302 single base substitution C T missense_variant S350F 1049C>T BRCA-US 3 49759422 49759422 single base substitution G A downstream_gene_variant BTCA-JP 3 49723575 49723575 single base substitution C T upstream_gene_variant BTCA-JP 3 49723833 49723833 single base substitution T A upstream_gene_variant BTCA-JP 3 49723916 49723916 single base substitution T G upstream_gene_variant BTCA-JP 3 49724011 49724011 single base substitution G T upstream_gene_variant BTCA-JP 3 49724014 49724014 single base substitution G A upstream_gene_variant BTCA-JP 3 49725948 49725948 single base substitution C T upstream_gene_variant BTCA-JP 3 49726174 49726174 single base substitution A G upstream_gene_variant BTCA-JP 3 49726318 49726318 single base substitution T C upstream_gene_variant BTCA-JP 3 49728729 49728729 single base substitution G A intron_variant BTCA-JP 3 49753230 49753230 single base substitution G A downstream_gene_variant BTCA-JP 3 49753230 49753230 single base substitution G A intron_variant BTCA-JP 3 49753230 49753230 single base substitution G A upstream_gene_variant BTCA-JP 3 49756429 49756429 single base substitution C T downstream_gene_variant BTCA-JP 3 49756429 49756429 single base substitution C T intron_variant BTCA-JP 3 49756429 49756429 single base substitution C T upstream_gene_variant BTCA-JP 3 49756533 49756533 single base substitution C T downstream_gene_variant BTCA-JP 3 49756533 49756533 single base substitution C T intron_variant BTCA-JP 3 49756533 49756533 single base substitution C T upstream_gene_variant BTCA-JP 3 49759359 49759359 single base substitution C A downstream_gene_variant BTCA-JP 3 49760750 49760750 deletion of <=200bp C - downstream_gene_variant CESC-US 3 49722905 49722905 insertion of <=200bp - G upstream_gene_variant CESC-US 3 49723358 49723358 single base substitution C T upstream_gene_variant CESC-US 3 49723520 49723520 single base substitution A G upstream_gene_variant CESC-US 3 49723542 49723542 single base substitution G C upstream_gene_variant CESC-US 3 49724227 49724227 insertion of <=200bp - C upstream_gene_variant CESC-US 3 49751254 49751254 single base substitution G C 3_prime_UTR_variant CESC-US 3 49751254 49751254 single base substitution G C downstream_gene_variant CESC-US 3 49751254 49751254 single base substitution G C exon_variant CESC-US 3 49751254 49751254 single base substitution G C intron_variant CESC-US 3 49751254 49751254 single base substitution G C missense_variant E57Q 169G>C CESC-US 3 49751254 49751254 single base substitution G C missense_variant E945Q 2833G>C CESC-US 3 49751254 49751254 single base substitution G C upstream_gene_variant CESC-US 3 49756377 49756377 single base substitution G C downstream_gene_variant CESC-US 3 49756377 49756377 single base substitution G C intron_variant CESC-US 3 49756377 49756377 single base substitution G C upstream_gene_variant CESC-US 3 49758728 49758728 single base substitution C A 3_prime_UTR_variant CESC-US 3 49758728 49758728 single base substitution C A downstream_gene_variant CESC-US 3 49758728 49758728 single base substitution C A exon_variant CESC-US 3 49758728 49758728 single base substitution C A stop_gained S1312* 3935C>A CESC-US 3 49758728 49758728 single base substitution C A stop_gained S424* 1271C>A CLLE-ES 3 49734065 49734065 single base substitution T C intron_variant CLLE-ES 3 49734065 49734065 single base substitution T C upstream_gene_variant CLLE-ES 3 49761397 49761397 single base substitution G C downstream_gene_variant COAD-US 3 49722004 49722004 single base substitution C T upstream_gene_variant COAD-US 3 49722251 49722251 single base substitution C T upstream_gene_variant COAD-US 3 49723754 49723754 single base substitution G A upstream_gene_variant COAD-US 3 49723784 49723784 single base substitution C A upstream_gene_variant COAD-US 3 49725081 49725081 single base substitution C T upstream_gene_variant COAD-US 3 49736971 49736971 single base substitution C T downstream_gene_variant COAD-US 3 49736971 49736971 single base substitution C T exon_variant COAD-US 3 49736971 49736971 single base substitution C T synonymous_variant L133L 397C>T COAD-US 3 49736971 49736971 single base substitution C T synonymous_variant L279L 835C>T COAD-US 3 49736971 49736971 single base substitution C T upstream_gene_variant COAD-US 3 49737107 49737107 single base substitution C T downstream_gene_variant COAD-US 3 49737107 49737107 single base substitution C T exon_variant COAD-US 3 49737107 49737107 single base substitution C T missense_variant R150W 448C>T COAD-US 3 49737107 49737107 single base substitution C T missense_variant R296W 886C>T COAD-US 3 49737107 49737107 single base substitution C T upstream_gene_variant COAD-US 3 49738081 49738081 single base substitution C T downstream_gene_variant COAD-US 3 49738081 49738081 single base substitution C T exon_variant COAD-US 3 49738081 49738081 single base substitution C T missense_variant R260W 778C>T COAD-US 3 49738081 49738081 single base substitution C T missense_variant R406W 1216C>T COAD-US 3 49738974 49738974 single base substitution G A downstream_gene_variant COAD-US 3 49738974 49738974 single base substitution G A exon_variant COAD-US 3 49738974 49738974 single base substitution G A missense_variant R297H 890G>A COAD-US 3 49738974 49738974 single base substitution G A missense_variant R443H 1328G>A COAD-US 3 49740092 49740092 single base substitution G A downstream_gene_variant COAD-US 3 49740092 49740092 single base substitution G A exon_variant COAD-US 3 49740092 49740092 single base substitution G A synonymous_variant E406E 1218G>A COAD-US 3 49740092 49740092 single base substitution G A synonymous_variant E552E 1656G>A COAD-US 3 49742142 49742142 single base substitution A G downstream_gene_variant COAD-US 3 49742142 49742142 single base substitution A G exon_variant COAD-US 3 49742142 49742142 single base substitution A G missense_variant M492V 1474A>G COAD-US 3 49742142 49742142 single base substitution A G missense_variant M638V 1912A>G COAD-US 3 49742587 49742587 single base substitution G A downstream_gene_variant COAD-US 3 49742587 49742587 single base substitution G A exon_variant COAD-US 3 49742587 49742587 single base substitution G A synonymous_variant L564L 1692G>A COAD-US 3 49742587 49742587 single base substitution G A synonymous_variant L710L 2130G>A COAD-US 3 49751345 49751345 single base substitution G A downstream_gene_variant COAD-US 3 49751345 49751345 single base substitution G A exon_variant COAD-US 3 49751345 49751345 single base substitution G A missense_variant R59H 176G>A COAD-US 3 49751345 49751345 single base substitution G A missense_variant R947H 2840G>A COAD-US 3 49751345 49751345 single base substitution G A splice_region_variant COAD-US 3 49751345 49751345 single base substitution G A upstream_gene_variant COAD-US 3 49751350 49751350 single base substitution G A 3_prime_UTR_variant COAD-US 3 49751350 49751350 single base substitution G A downstream_gene_variant COAD-US 3 49751350 49751350 single base substitution G A exon_variant COAD-US 3 49751350 49751350 single base substitution G A missense_variant A61T 181G>A COAD-US 3 49751350 49751350 single base substitution G A missense_variant A949T 2845G>A COAD-US 3 49751350 49751350 single base substitution G A upstream_gene_variant COAD-US 3 49753345 49753345 single base substitution C A 3_prime_UTR_variant COAD-US 3 49753345 49753345 single base substitution C A downstream_gene_variant COAD-US 3 49753345 49753345 single base substitution C A exon_variant COAD-US 3 49753345 49753345 single base substitution C A missense_variant L1081M 3241C>A COAD-US 3 49753345 49753345 single base substitution C A missense_variant L193M 577C>A COAD-US 3 49753345 49753345 single base substitution C A upstream_gene_variant COAD-US 3 49753874 49753874 single base substitution T C 3_prime_UTR_variant COAD-US 3 49753874 49753874 single base substitution T C downstream_gene_variant COAD-US 3 49753874 49753874 single base substitution T C exon_variant COAD-US 3 49753874 49753874 single base substitution T C missense_variant I1155T 3464T>C COAD-US 3 49753874 49753874 single base substitution T C missense_variant I267T 800T>C COAD-US 3 49753874 49753874 single base substitution T C upstream_gene_variant COAD-US 3 49755795 49755797 deletion of <=200bp GTT - downstream_gene_variant COAD-US 3 49755795 49755797 deletion of <=200bp GTT - intron_variant COAD-US 3 49755795 49755797 deletion of <=200bp GTT - upstream_gene_variant COAD-US 3 49755833 49755833 single base substitution C T downstream_gene_variant COAD-US 3 49755833 49755833 single base substitution C T exon_variant COAD-US 3 49755833 49755833 single base substitution C T intron_variant COAD-US 3 49755833 49755833 single base substitution C T upstream_gene_variant COAD-US 3 49755937 49755937 single base substitution G A downstream_gene_variant COAD-US 3 49755937 49755937 single base substitution G A exon_variant COAD-US 3 49755937 49755937 single base substitution G A intron_variant COAD-US 3 49755937 49755937 single base substitution G A upstream_gene_variant COAD-US 3 49756159 49756159 single base substitution C T downstream_gene_variant COAD-US 3 49756159 49756159 single base substitution C T intron_variant COAD-US 3 49756159 49756159 single base substitution C T upstream_gene_variant COAD-US 3 49756353 49756353 single base substitution G A downstream_gene_variant COAD-US 3 49756353 49756353 single base substitution G A intron_variant COAD-US 3 49756353 49756353 single base substitution G A upstream_gene_variant COAD-US 3 49756397 49756397 single base substitution C T downstream_gene_variant COAD-US 3 49756397 49756397 single base substitution C T intron_variant COAD-US 3 49756397 49756397 single base substitution C T upstream_gene_variant COAD-US 3 49756518 49756518 single base substitution G A downstream_gene_variant COAD-US 3 49756518 49756518 single base substitution G A intron_variant COAD-US 3 49756518 49756518 single base substitution G A upstream_gene_variant COAD-US 3 49756602 49756602 single base substitution C T downstream_gene_variant COAD-US 3 49756602 49756602 single base substitution C T intron_variant COAD-US 3 49756602 49756602 single base substitution C T upstream_gene_variant COAD-US 3 49756635 49756635 single base substitution G A downstream_gene_variant COAD-US 3 49756635 49756635 single base substitution G A intron_variant COAD-US 3 49756635 49756635 single base substitution G A upstream_gene_variant COAD-US 3 49756837 49756837 single base substitution G A downstream_gene_variant COAD-US 3 49756837 49756837 single base substitution G A intron_variant COAD-US 3 49756837 49756837 single base substitution G A upstream_gene_variant COAD-US 3 49758039 49758039 single base substitution G A 3_prime_UTR_variant COAD-US 3 49758039 49758039 single base substitution G A downstream_gene_variant COAD-US 3 49758039 49758039 single base substitution G A exon_variant COAD-US 3 49758039 49758039 single base substitution G A missense_variant G1199D 3596G>A COAD-US 3 49758039 49758039 single base substitution G A missense_variant G311D 932G>A COAD-US 3 49758062 49758062 single base substitution C T 3_prime_UTR_variant COAD-US 3 49758062 49758062 single base substitution C T downstream_gene_variant COAD-US 3 49758062 49758062 single base substitution C T exon_variant COAD-US 3 49758062 49758062 single base substitution C T missense_variant R1207W 3619C>T COAD-US 3 49758062 49758062 single base substitution C T missense_variant R319W 955C>T COAD-US 3 49758069 49758069 single base substitution G A 3_prime_UTR_variant COAD-US 3 49758069 49758069 single base substitution G A downstream_gene_variant COAD-US 3 49758069 49758069 single base substitution G A exon_variant COAD-US 3 49758069 49758069 single base substitution G A missense_variant R1209H 3626G>A COAD-US 3 49758069 49758069 single base substitution G A missense_variant R321H 962G>A COAD-US 3 49758682 49758682 single base substitution T C 3_prime_UTR_variant COAD-US 3 49758682 49758682 single base substitution T C downstream_gene_variant COAD-US 3 49758682 49758682 single base substitution T C exon_variant COAD-US 3 49758682 49758682 single base substitution T C missense_variant S1297P 3889T>C COAD-US 3 49758682 49758682 single base substitution T C missense_variant S409P 1225T>C COCA-CN 3 49722064 49722064 single base substitution C T upstream_gene_variant COCA-CN 3 49723141 49723141 single base substitution A G upstream_gene_variant COCA-CN 3 49723274 49723274 single base substitution G A upstream_gene_variant COCA-CN 3 49724712 49724712 single base substitution C T upstream_gene_variant COCA-CN 3 49725021 49725021 single base substitution C T upstream_gene_variant COCA-CN 3 49725034 49725034 single base substitution T A upstream_gene_variant COCA-CN 3 49725038 49725038 single base substitution G C upstream_gene_variant COCA-CN 3 49725086 49725086 single base substitution G A upstream_gene_variant COCA-CN 3 49734852 49734852 single base substitution T A 5_prime_UTR_variant COCA-CN 3 49734852 49734852 single base substitution T A downstream_gene_variant COCA-CN 3 49734852 49734852 single base substitution T A exon_variant COCA-CN 3 49734852 49734852 single base substitution T A missense_variant F102I 304T>A COCA-CN 3 49734852 49734852 single base substitution T A upstream_gene_variant COCA-CN 3 49735410 49735410 single base substitution G A downstream_gene_variant COCA-CN 3 49735410 49735410 single base substitution G A intron_variant COCA-CN 3 49735410 49735410 single base substitution G A upstream_gene_variant COCA-CN 3 49735816 49735816 single base substitution G A downstream_gene_variant COCA-CN 3 49735816 49735816 single base substitution G A intron_variant COCA-CN 3 49735816 49735816 single base substitution G A upstream_gene_variant COCA-CN 3 49736431 49736431 single base substitution C T downstream_gene_variant COCA-CN 3 49736431 49736431 single base substitution C T exon_variant COCA-CN 3 49736431 49736431 single base substitution C T synonymous_variant G219G 657C>T COCA-CN 3 49736431 49736431 single base substitution C T synonymous_variant G73G 219C>T COCA-CN 3 49736431 49736431 single base substitution C T upstream_gene_variant COCA-CN 3 49737891 49737891 single base substitution A G downstream_gene_variant COCA-CN 3 49737891 49737891 single base substitution A G exon_variant COCA-CN 3 49737891 49737891 single base substitution A G intron_variant COCA-CN 3 49737891 49737891 single base substitution A G upstream_gene_variant COCA-CN 3 49739140 49739140 single base substitution C A downstream_gene_variant COCA-CN 3 49739140 49739140 single base substitution C A intron_variant COCA-CN 3 49739753 49739753 single base substitution T C downstream_gene_variant COCA-CN 3 49739753 49739753 single base substitution T C intron_variant COCA-CN 3 49743218 49743218 single base substitution G A downstream_gene_variant COCA-CN 3 49743218 49743218 single base substitution G A exon_variant COCA-CN 3 49743218 49743218 single base substitution G A intron_variant COCA-CN 3 49750068 49750068 single base substitution C T 3_prime_UTR_variant COCA-CN 3 49750068 49750068 single base substitution C T exon_variant COCA-CN 3 49750068 49750068 single base substitution C T missense_variant H739Y 2215C>T COCA-CN 3 49750068 49750068 single base substitution C T missense_variant H885Y 2653C>T COCA-CN 3 49750068 49750068 single base substitution C T upstream_gene_variant COCA-CN 3 49753352 49753352 single base substitution G A 3_prime_UTR_variant COCA-CN 3 49753352 49753352 single base substitution G A downstream_gene_variant COCA-CN 3 49753352 49753352 single base substitution G A exon_variant COCA-CN 3 49753352 49753352 single base substitution G A missense_variant R1083H 3248G>A COCA-CN 3 49753352 49753352 single base substitution G A missense_variant R195H 584G>A COCA-CN 3 49753352 49753352 single base substitution G A upstream_gene_variant COCA-CN 3 49755308 49755308 single base substitution C T downstream_gene_variant COCA-CN 3 49755308 49755308 single base substitution C T intron_variant COCA-CN 3 49755308 49755308 single base substitution C T upstream_gene_variant COCA-CN 3 49755450 49755450 single base substitution G A downstream_gene_variant COCA-CN 3 49755450 49755450 single base substitution G A intron_variant COCA-CN 3 49755450 49755450 single base substitution G A upstream_gene_variant COCA-CN 3 49755494 49755494 single base substitution G A downstream_gene_variant COCA-CN 3 49755494 49755494 single base substitution G A intron_variant COCA-CN 3 49755494 49755494 single base substitution G A upstream_gene_variant COCA-CN 3 49755624 49755624 single base substitution C T downstream_gene_variant COCA-CN 3 49755624 49755624 single base substitution C T exon_variant COCA-CN 3 49755624 49755624 single base substitution C T intron_variant COCA-CN 3 49755624 49755624 single base substitution C T upstream_gene_variant COCA-CN 3 49755976 49755976 single base substitution C T downstream_gene_variant COCA-CN 3 49755976 49755976 single base substitution C T exon_variant COCA-CN 3 49755976 49755976 single base substitution C T intron_variant COCA-CN 3 49755976 49755976 single base substitution C T upstream_gene_variant COCA-CN 3 49756032 49756032 single base substitution G A downstream_gene_variant COCA-CN 3 49756032 49756032 single base substitution G A exon_variant COCA-CN 3 49756032 49756032 single base substitution G A intron_variant COCA-CN 3 49756032 49756032 single base substitution G A upstream_gene_variant COCA-CN 3 49757993 49757993 single base substitution C T 3_prime_UTR_variant COCA-CN 3 49757993 49757993 single base substitution C T downstream_gene_variant COCA-CN 3 49757993 49757993 single base substitution C T exon_variant COCA-CN 3 49757993 49757993 single base substitution C T missense_variant R1184C 3550C>T COCA-CN 3 49757993 49757993 single base substitution C T missense_variant R296C 886C>T COCA-CN 3 49758612 49758612 single base substitution T A downstream_gene_variant COCA-CN 3 49758612 49758612 single base substitution T A intron_variant COCA-CN 3 49759163 49759163 single base substitution C T downstream_gene_variant COCA-CN 3 49760749 49760749 single base substitution G A downstream_gene_variant EOPC-DE 3 49751230 49751230 single base substitution C T 3_prime_UTR_variant EOPC-DE 3 49751230 49751230 single base substitution C T downstream_gene_variant EOPC-DE 3 49751230 49751230 single base substitution C T exon_variant EOPC-DE 3 49751230 49751230 single base substitution C T intron_variant EOPC-DE 3 49751230 49751230 single base substitution C T missense_variant R49W 145C>T EOPC-DE 3 49751230 49751230 single base substitution C T missense_variant R937W 2809C>T EOPC-DE 3 49751230 49751230 single base substitution C T upstream_gene_variant ESAD-UK 3 49734325 49734325 single base substitution C T intron_variant ESAD-UK 3 49734325 49734325 single base substitution C T upstream_gene_variant ESAD-UK 3 49736748 49736748 single base substitution G A downstream_gene_variant ESAD-UK 3 49736748 49736748 single base substitution G A intron_variant ESAD-UK 3 49736748 49736748 single base substitution G A upstream_gene_variant ESAD-UK 3 49737212 49737212 single base substitution G A downstream_gene_variant ESAD-UK 3 49737212 49737212 single base substitution G A exon_variant ESAD-UK 3 49737212 49737212 single base substitution G A splice_region_variant ESAD-UK 3 49737212 49737212 single base substitution G A upstream_gene_variant ESAD-UK 3 49737598 49737598 single base substitution G A downstream_gene_variant ESAD-UK 3 49737598 49737598 single base substitution G A exon_variant ESAD-UK 3 49737598 49737598 single base substitution G A intron_variant ESAD-UK 3 49737598 49737598 single base substitution G A upstream_gene_variant ESAD-UK 3 49740221 49740221 single base substitution G A downstream_gene_variant ESAD-UK 3 49740221 49740221 single base substitution G A intron_variant ESAD-UK 3 49742654 49742654 single base substitution C T downstream_gene_variant ESAD-UK 3 49742654 49742654 single base substitution C T intron_variant ESAD-UK 3 49743214 49743214 single base substitution G C downstream_gene_variant ESAD-UK 3 49743214 49743214 single base substitution G C exon_variant ESAD-UK 3 49743214 49743214 single base substitution G C intron_variant ESAD-UK 3 49743485 49743485 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 49743485 49743485 single base substitution G A downstream_gene_variant ESAD-UK 3 49743485 49743485 single base substitution G A exon_variant ESAD-UK 3 49743485 49743485 single base substitution G A missense_variant R646Q 1937G>A ESAD-UK 3 49743485 49743485 single base substitution G A missense_variant R792Q 2375G>A ESAD-UK 3 49744719 49744719 single base substitution G A intron_variant ESAD-UK 3 49746306 49746306 single base substitution C A intron_variant ESAD-UK 3 49746306 49746306 single base substitution C A upstream_gene_variant ESAD-UK 3 49748515 49748515 single base substitution G A intron_variant ESAD-UK 3 49748515 49748515 single base substitution G A upstream_gene_variant ESAD-UK 3 49749286 49749286 single base substitution C T intron_variant ESAD-UK 3 49749286 49749286 single base substitution C T upstream_gene_variant ESAD-UK 3 49753373 49753373 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 49753373 49753373 single base substitution C T downstream_gene_variant ESAD-UK 3 49753373 49753373 single base substitution C T exon_variant ESAD-UK 3 49753373 49753373 single base substitution C T missense_variant T1090I 3269C>T ESAD-UK 3 49753373 49753373 single base substitution C T missense_variant T202I 605C>T ESAD-UK 3 49753373 49753373 single base substitution C T upstream_gene_variant ESAD-UK 3 49758566 49758566 single base substitution G T downstream_gene_variant ESAD-UK 3 49758566 49758566 single base substitution G T intron_variant ESAD-UK 3 49759250 49759250 single base substitution C T downstream_gene_variant ESCA-CN 3 49725948 49725948 single base substitution C T upstream_gene_variant ESCA-CN 3 49726070 49726070 single base substitution G A upstream_gene_variant ESCA-CN 3 49734876 49734876 single base substitution G A 5_prime_UTR_variant ESCA-CN 3 49734876 49734876 single base substitution G A downstream_gene_variant ESCA-CN 3 49734876 49734876 single base substitution G A exon_variant ESCA-CN 3 49734876 49734876 single base substitution G A missense_variant D110N 328G>A ESCA-CN 3 49734876 49734876 single base substitution G A upstream_gene_variant ESCA-CN 3 49756285 49756285 single base substitution G A downstream_gene_variant ESCA-CN 3 49756285 49756285 single base substitution G A intron_variant ESCA-CN 3 49756285 49756285 single base substitution G A upstream_gene_variant GBM-US 3 49723304 49723304 single base substitution C T upstream_gene_variant GBM-US 3 49723522 49723522 single base substitution G A upstream_gene_variant GBM-US 3 49724141 49724144 deletion of <=200bp CTCG - upstream_gene_variant GBM-US 3 49724639 49724639 single base substitution A G upstream_gene_variant GBM-US 3 49735348 49735348 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant GBM-US 3 49735348 49735348 single base substitution C T downstream_gene_variant GBM-US 3 49735348 49735348 single base substitution C T exon_variant GBM-US 3 49735348 49735348 single base substitution C T missense_variant R125C 373C>T GBM-US 3 49735348 49735348 single base substitution C T upstream_gene_variant GBM-US 3 49737157 49737157 single base substitution C T downstream_gene_variant GBM-US 3 49737157 49737157 single base substitution C T exon_variant GBM-US 3 49737157 49737157 single base substitution C T synonymous_variant T166T 498C>T GBM-US 3 49737157 49737157 single base substitution C T synonymous_variant T312T 936C>T GBM-US 3 49737157 49737157 single base substitution C T upstream_gene_variant GBM-US 3 49756785 49756785 single base substitution A G downstream_gene_variant GBM-US 3 49756785 49756785 single base substitution A G intron_variant GBM-US 3 49756785 49756785 single base substitution A G upstream_gene_variant KIRC-US 3 49721998 49721998 single base substitution A G upstream_gene_variant KIRC-US 3 49725086 49725086 single base substitution G A upstream_gene_variant KIRC-US 3 49734822 49734822 single base substitution T C 3_prime_UTR_variant KIRC-US 3 49734822 49734822 single base substitution T C 5_prime_UTR_variant KIRC-US 3 49734822 49734822 single base substitution T C downstream_gene_variant KIRC-US 3 49734822 49734822 single base substitution T C exon_variant KIRC-US 3 49734822 49734822 single base substitution T C missense_variant S92P 274T>C KIRC-US 3 49734822 49734822 single base substitution T C upstream_gene_variant KIRC-US 3 49737755 49737755 single base substitution G T downstream_gene_variant KIRC-US 3 49737755 49737755 single base substitution G T exon_variant KIRC-US 3 49737755 49737755 single base substitution G T missense_variant Q214H 642G>T KIRC-US 3 49737755 49737755 single base substitution G T missense_variant Q360H 1080G>T KIRC-US 3 49737755 49737755 single base substitution G T upstream_gene_variant KIRC-US 3 49760159 49760159 single base substitution T C downstream_gene_variant KIRP-US 3 49723112 49723112 deletion of <=200bp T - upstream_gene_variant KIRP-US 3 49726048 49726048 single base substitution T A upstream_gene_variant KIRP-US 3 49737921 49737921 single base substitution A G downstream_gene_variant KIRP-US 3 49737921 49737921 single base substitution A G exon_variant KIRP-US 3 49737921 49737921 single base substitution A G missense_variant D230G 689A>G KIRP-US 3 49737921 49737921 single base substitution A G missense_variant D376G 1127A>G KIRP-US 3 49737921 49737921 single base substitution A G upstream_gene_variant KIRP-US 3 49755505 49755505 single base substitution T C downstream_gene_variant KIRP-US 3 49755505 49755505 single base substitution T C intron_variant KIRP-US 3 49755505 49755505 single base substitution T C upstream_gene_variant KIRP-US 3 49759370 49759370 single base substitution C T downstream_gene_variant KIRP-US 3 49760823 49760823 single base substitution A C downstream_gene_variant LAML-KR 3 49722397 49722397 single base substitution G A upstream_gene_variant LAML-KR 3 49722502 49722502 single base substitution C G upstream_gene_variant LAML-KR 3 49722549 49722549 single base substitution T A upstream_gene_variant LAML-KR 3 49723009 49723009 single base substitution G C upstream_gene_variant LAML-KR 3 49723174 49723174 single base substitution A G upstream_gene_variant LAML-KR 3 49723217 49723217 single base substitution G A upstream_gene_variant LAML-KR 3 49723234 49723234 single base substitution C T upstream_gene_variant LAML-KR 3 49723274 49723274 single base substitution G A upstream_gene_variant LAML-KR 3 49723296 49723296 single base substitution G A upstream_gene_variant LAML-KR 3 49723399 49723399 single base substitution T C upstream_gene_variant LAML-KR 3 49723409 49723409 single base substitution G A upstream_gene_variant LAML-KR 3 49723444 49723444 single base substitution C T upstream_gene_variant LAML-KR 3 49723823 49723823 single base substitution A G upstream_gene_variant LAML-KR 3 49723881 49723881 single base substitution G C upstream_gene_variant LAML-KR 3 49723916 49723916 single base substitution T G upstream_gene_variant LAML-KR 3 49724011 49724011 single base substitution G T upstream_gene_variant LAML-KR 3 49724014 49724014 single base substitution G A upstream_gene_variant LAML-KR 3 49724163 49724163 single base substitution A G upstream_gene_variant LAML-KR 3 49724183 49724183 single base substitution C G upstream_gene_variant LAML-KR 3 49724197 49724197 single base substitution T C upstream_gene_variant LAML-KR 3 49724260 49724260 single base substitution C G upstream_gene_variant LAML-KR 3 49725038 49725038 single base substitution G C upstream_gene_variant LAML-KR 3 49725619 49725619 single base substitution A G upstream_gene_variant LAML-KR 3 49725948 49725948 single base substitution C T upstream_gene_variant LAML-KR 3 49726070 49726070 single base substitution G A upstream_gene_variant LAML-KR 3 49726318 49726318 single base substitution T C upstream_gene_variant LAML-KR 3 49728818 49728818 single base substitution G C intron_variant LAML-KR 3 49734298 49734298 single base substitution C T intron_variant LAML-KR 3 49734298 49734298 single base substitution C T upstream_gene_variant LAML-KR 3 49746757 49746757 single base substitution A G intron_variant LAML-KR 3 49746757 49746757 single base substitution A G upstream_gene_variant LAML-KR 3 49759004 49759004 single base substitution G A downstream_gene_variant LGG-US 3 49723304 49723304 single base substitution C T upstream_gene_variant LGG-US 3 49723525 49723525 single base substitution G A upstream_gene_variant LGG-US 3 49723542 49723542 single base substitution G C upstream_gene_variant LGG-US 3 49723545 49723545 single base substitution G A upstream_gene_variant LGG-US 3 49723596 49723596 single base substitution G A upstream_gene_variant LGG-US 3 49726195 49726195 single base substitution T C upstream_gene_variant LICA-CN 3 49722502 49722502 single base substitution C G upstream_gene_variant LICA-CN 3 49739827 49739827 single base substitution A T downstream_gene_variant LICA-CN 3 49739827 49739827 single base substitution A T exon_variant LICA-CN 3 49739827 49739827 single base substitution A T missense_variant S394C 1180A>T LICA-CN 3 49739827 49739827 single base substitution A T missense_variant S540C 1618A>T LICA-CN 3 49742601 49742601 single base substitution G A downstream_gene_variant LICA-CN 3 49742601 49742601 single base substitution G A exon_variant LICA-CN 3 49742601 49742601 single base substitution G A missense_variant R569K 1706G>A LICA-CN 3 49742601 49742601 single base substitution G A missense_variant R715K 2144G>A LICA-FR 3 49722502 49722502 single base substitution C G upstream_gene_variant LICA-FR 3 49722549 49722549 single base substitution T A upstream_gene_variant LICA-FR 3 49724011 49724011 single base substitution G T upstream_gene_variant LICA-FR 3 49724014 49724014 single base substitution G A upstream_gene_variant LICA-FR 3 49725275 49725279 deletion of <=200bp GTGCT - upstream_gene_variant LICA-FR 3 49725302 49725302 single base substitution T C upstream_gene_variant LICA-FR 3 49725815 49725815 single base substitution G A upstream_gene_variant LICA-FR 3 49726174 49726174 single base substitution A G upstream_gene_variant LICA-FR 3 49726371 49726371 single base substitution G C upstream_gene_variant LICA-FR 3 49726387 49726387 single base substitution G C upstream_gene_variant LICA-FR 3 49726390 49726390 single base substitution C T upstream_gene_variant LICA-FR 3 49728048 49728048 single base substitution A G intron_variant LICA-FR 3 49729146 49729146 single base substitution C G intron_variant LICA-FR 3 49729218 49729218 single base substitution T C intron_variant LICA-FR 3 49734377 49734377 single base substitution C T intron_variant LICA-FR 3 49734377 49734377 single base substitution C T upstream_gene_variant LICA-FR 3 49734887 49734887 deletion of <=200bp G - 5_prime_UTR_variant LICA-FR 3 49734887 49734887 deletion of <=200bp G - downstream_gene_variant LICA-FR 3 49734887 49734887 deletion of <=200bp G - exon_variant LICA-FR 3 49734887 49734887 deletion of <=200bp G - frameshift_variant L113 LICA-FR 3 49734887 49734887 deletion of <=200bp G - upstream_gene_variant LICA-FR 3 49737708 49737708 single base substitution A G downstream_gene_variant LICA-FR 3 49737708 49737708 single base substitution A G exon_variant LICA-FR 3 49737708 49737708 single base substitution A G missense_variant I199V 595A>G LICA-FR 3 49737708 49737708 single base substitution A G missense_variant I345V 1033A>G LICA-FR 3 49737708 49737708 single base substitution A G upstream_gene_variant LICA-FR 3 49740185 49740185 deletion of <=200bp G - downstream_gene_variant LICA-FR 3 49740185 49740185 deletion of <=200bp G - frameshift_variant E437 LICA-FR 3 49740185 49740185 deletion of <=200bp G - frameshift_variant E583 LICA-FR 3 49740185 49740185 deletion of <=200bp G - splice_region_variant LICA-FR 3 49744506 49744506 single base substitution T G downstream_gene_variant LICA-FR 3 49744506 49744506 single base substitution T G intron_variant LICA-FR 3 49750395 49750395 single base substitution G A downstream_gene_variant LICA-FR 3 49750395 49750395 single base substitution G A exon_variant LICA-FR 3 49750395 49750395 single base substitution G A intron_variant LICA-FR 3 49750395 49750395 single base substitution G A upstream_gene_variant LICA-FR 3 49755396 49755396 single base substitution G T downstream_gene_variant LICA-FR 3 49755396 49755396 single base substitution G T intron_variant LICA-FR 3 49755396 49755396 single base substitution G T upstream_gene_variant LICA-FR 3 49756360 49756360 single base substitution A T downstream_gene_variant LICA-FR 3 49756360 49756360 single base substitution A T intron_variant LICA-FR 3 49756360 49756360 single base substitution A T upstream_gene_variant LIHC-US 3 49722242 49722242 single base substitution T A upstream_gene_variant LIHC-US 3 49722762 49722762 single base substitution G A upstream_gene_variant LIHC-US 3 49722913 49722913 single base substitution C T upstream_gene_variant LIHC-US 3 49724207 49724207 single base substitution A G upstream_gene_variant LIHC-US 3 49735904 49735904 single base substitution C T downstream_gene_variant LIHC-US 3 49735904 49735904 single base substitution C T exon_variant LIHC-US 3 49735904 49735904 single base substitution C T missense_variant A172V 515C>T LIHC-US 3 49735904 49735904 single base substitution C T missense_variant A26V 77C>T LIHC-US 3 49735904 49735904 single base substitution C T upstream_gene_variant LIHC-US 3 49738928 49738928 single base substitution G T downstream_gene_variant LIHC-US 3 49738928 49738928 single base substitution G T exon_variant LIHC-US 3 49738928 49738928 single base substitution G T missense_variant D282Y 844G>T LIHC-US 3 49738928 49738928 single base substitution G T missense_variant D428Y 1282G>T LIHC-US 3 49738946 49738946 single base substitution G T downstream_gene_variant LIHC-US 3 49738946 49738946 single base substitution G T exon_variant LIHC-US 3 49738946 49738946 single base substitution G T missense_variant V288F 862G>T LIHC-US 3 49738946 49738946 single base substitution G T missense_variant V434F 1300G>T LIHC-US 3 49739578 49739578 single base substitution G A downstream_gene_variant LIHC-US 3 49739578 49739578 single base substitution G A splice_donor_variant LIHC-US 3 49744294 49744294 single base substitution G T 3_prime_UTR_variant LIHC-US 3 49744294 49744294 single base substitution G T downstream_gene_variant LIHC-US 3 49744294 49744294 single base substitution G T exon_variant LIHC-US 3 49744294 49744294 single base substitution G T missense_variant R674L 2021G>T LIHC-US 3 49744294 49744294 single base substitution G T missense_variant R820L 2459G>T LIHC-US 3 49749928 49749930 deletion of <=200bp TCT - 3_prime_UTR_variant LIHC-US 3 49749928 49749930 deletion of <=200bp TCT - disruptive_inframe_deletion IY692N LIHC-US 3 49749928 49749930 deletion of <=200bp TCT - disruptive_inframe_deletion IY838N LIHC-US 3 49749928 49749930 deletion of <=200bp TCT - exon_variant LIHC-US 3 49749928 49749930 deletion of <=200bp TCT - upstream_gene_variant LIHC-US 3 49753579 49753579 single base substitution G C 3_prime_UTR_variant LIHC-US 3 49753579 49753579 single base substitution G C downstream_gene_variant LIHC-US 3 49753579 49753579 single base substitution G C exon_variant LIHC-US 3 49753579 49753579 single base substitution G C synonymous_variant L1128L 3384G>C LIHC-US 3 49753579 49753579 single base substitution G C synonymous_variant L240L 720G>C LIHC-US 3 49753579 49753579 single base substitution G C upstream_gene_variant LIHC-US 3 49756547 49756547 single base substitution A G downstream_gene_variant LIHC-US 3 49756547 49756547 single base substitution A G intron_variant LIHC-US 3 49756547 49756547 single base substitution A G upstream_gene_variant LIHC-US 3 49759578 49759578 single base substitution G A downstream_gene_variant LINC-JP 3 49723550 49723550 single base substitution C T upstream_gene_variant LINC-JP 3 49724014 49724014 single base substitution G A upstream_gene_variant LINC-JP 3 49725974 49725974 single base substitution A G upstream_gene_variant LINC-JP 3 49726394 49726394 single base substitution C A upstream_gene_variant LINC-JP 3 49729084 49729084 single base substitution T C intron_variant LINC-JP 3 49736127 49736127 single base substitution G T downstream_gene_variant LINC-JP 3 49736127 49736127 single base substitution G T intron_variant LINC-JP 3 49736127 49736127 single base substitution G T upstream_gene_variant LINC-JP 3 49736290 49736290 single base substitution C T downstream_gene_variant LINC-JP 3 49736290 49736290 single base substitution C T intron_variant LINC-JP 3 49736290 49736290 single base substitution C T upstream_gene_variant LINC-JP 3 49738915 49738915 single base substitution A C downstream_gene_variant LINC-JP 3 49738915 49738915 single base substitution A C intron_variant LINC-JP 3 49738937 49738937 single base substitution C T downstream_gene_variant LINC-JP 3 49738937 49738937 single base substitution C T exon_variant LINC-JP 3 49738937 49738937 single base substitution C T missense_variant R285C 853C>T LINC-JP 3 49738937 49738937 single base substitution C T missense_variant R431C 1291C>T LINC-JP 3 49753489 49753489 insertion of <=200bp - T downstream_gene_variant LINC-JP 3 49753489 49753489 insertion of <=200bp - T intron_variant LINC-JP 3 49753489 49753489 insertion of <=200bp - T upstream_gene_variant LINC-JP 3 49756492 49756492 single base substitution T A downstream_gene_variant LINC-JP 3 49756492 49756492 single base substitution T A intron_variant LINC-JP 3 49756492 49756492 single base substitution T A upstream_gene_variant LINC-JP 3 49758529 49758529 single base substitution A C 3_prime_UTR_variant LINC-JP 3 49758529 49758529 single base substitution A C downstream_gene_variant LINC-JP 3 49758529 49758529 single base substitution A C exon_variant LINC-JP 3 49758529 49758529 single base substitution A C missense_variant K1272T 3815A>C LINC-JP 3 49758529 49758529 single base substitution A C missense_variant K384T 1151A>C LINC-JP 3 49758583 49758583 single base substitution A C downstream_gene_variant LINC-JP 3 49758583 49758583 single base substitution A C intron_variant LINC-JP 3 49760140 49760143 deletion of <=200bp CTCA - downstream_gene_variant LIRI-JP 3 49722006 49722006 single base substitution A G upstream_gene_variant LIRI-JP 3 49723274 49723274 single base substitution G A upstream_gene_variant LIRI-JP 3 49726020 49726020 single base substitution G C upstream_gene_variant LIRI-JP 3 49726406 49726406 single base substitution C T upstream_gene_variant LIRI-JP 3 49727845 49727845 single base substitution T A intron_variant LIRI-JP 3 49734173 49734173 single base substitution A G intron_variant LIRI-JP 3 49734173 49734173 single base substitution A G upstream_gene_variant LIRI-JP 3 49734318 49734318 single base substitution A G intron_variant LIRI-JP 3 49734318 49734318 single base substitution A G upstream_gene_variant LIRI-JP 3 49736098 49736098 single base substitution C T downstream_gene_variant LIRI-JP 3 49736098 49736098 single base substitution C T intron_variant LIRI-JP 3 49736098 49736098 single base substitution C T upstream_gene_variant LIRI-JP 3 49739729 49739729 single base substitution C T downstream_gene_variant LIRI-JP 3 49739729 49739729 single base substitution C T intron_variant LIRI-JP 3 49740019 49740019 single base substitution A G downstream_gene_variant LIRI-JP 3 49740019 49740019 single base substitution A G intron_variant LIRI-JP 3 49742949 49742949 single base substitution C G downstream_gene_variant LIRI-JP 3 49742949 49742949 single base substitution C G intron_variant LIRI-JP 3 49746269 49746269 single base substitution G A intron_variant LIRI-JP 3 49746269 49746269 single base substitution G A upstream_gene_variant LIRI-JP 3 49747413 49747413 single base substitution C G intron_variant LIRI-JP 3 49747413 49747413 single base substitution C G upstream_gene_variant LIRI-JP 3 49747752 49747752 single base substitution G T intron_variant LIRI-JP 3 49747752 49747752 single base substitution G T upstream_gene_variant LIRI-JP 3 49751320 49751320 single base substitution C G downstream_gene_variant LIRI-JP 3 49751320 49751320 single base substitution C G exon_variant LIRI-JP 3 49751320 49751320 single base substitution C G intron_variant LIRI-JP 3 49751320 49751320 single base substitution C G upstream_gene_variant LIRI-JP 3 49751778 49751778 single base substitution C A downstream_gene_variant LIRI-JP 3 49751778 49751778 single base substitution C A intron_variant LIRI-JP 3 49751778 49751778 single base substitution C A upstream_gene_variant LIRI-JP 3 49752005 49752005 single base substitution A G downstream_gene_variant LIRI-JP 3 49752005 49752005 single base substitution A G intron_variant LIRI-JP 3 49752005 49752005 single base substitution A G upstream_gene_variant LIRI-JP 3 49752225 49752225 single base substitution T C downstream_gene_variant LIRI-JP 3 49752225 49752225 single base substitution T C intron_variant LIRI-JP 3 49752225 49752225 single base substitution T C upstream_gene_variant LIRI-JP 3 49752530 49752530 single base substitution G C downstream_gene_variant LIRI-JP 3 49752530 49752530 single base substitution G C intron_variant LIRI-JP 3 49752530 49752530 single base substitution G C upstream_gene_variant LIRI-JP 3 49754264 49754264 single base substitution G A downstream_gene_variant LIRI-JP 3 49754264 49754264 single base substitution G A intron_variant LIRI-JP 3 49754264 49754264 single base substitution G A upstream_gene_variant LIRI-JP 3 49758756 49758756 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 49758756 49758756 single base substitution A G downstream_gene_variant LIRI-JP 3 49758756 49758756 single base substitution A G exon_variant LIRI-JP 3 49758916 49758916 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 49758916 49758916 single base substitution G A downstream_gene_variant LIRI-JP 3 49758916 49758916 single base substitution G A exon_variant LIRI-JP 3 49759040 49759040 single base substitution A T downstream_gene_variant LIRI-JP 3 49759455 49759455 single base substitution A G downstream_gene_variant LIRI-JP 3 49761980 49761980 single base substitution G C downstream_gene_variant LUSC-KR 3 49722397 49722397 single base substitution G A upstream_gene_variant LUSC-KR 3 49722502 49722502 single base substitution C G upstream_gene_variant LUSC-KR 3 49722549 49722549 single base substitution T A upstream_gene_variant LUSC-KR 3 49723234 49723234 single base substitution C T upstream_gene_variant LUSC-KR 3 49723274 49723274 single base substitution G A upstream_gene_variant LUSC-KR 3 49723823 49723823 single base substitution A G upstream_gene_variant LUSC-KR 3 49723881 49723881 single base substitution G C upstream_gene_variant LUSC-KR 3 49723916 49723916 single base substitution T G upstream_gene_variant LUSC-KR 3 49724011 49724011 single base substitution G T upstream_gene_variant LUSC-KR 3 49724197 49724197 single base substitution T C upstream_gene_variant LUSC-KR 3 49724260 49724260 single base substitution C G upstream_gene_variant LUSC-KR 3 49724986 49724986 single base substitution T C upstream_gene_variant LUSC-KR 3 49725021 49725021 single base substitution C T upstream_gene_variant LUSC-KR 3 49725034 49725034 single base substitution T A upstream_gene_variant LUSC-KR 3 49725038 49725038 single base substitution G C upstream_gene_variant LUSC-KR 3 49725086 49725086 single base substitution G A upstream_gene_variant LUSC-KR 3 49725908 49725908 single base substitution G C upstream_gene_variant LUSC-KR 3 49725910 49725910 single base substitution A G upstream_gene_variant LUSC-KR 3 49726028 49726028 single base substitution T C upstream_gene_variant LUSC-KR 3 49726070 49726070 single base substitution G A upstream_gene_variant LUSC-KR 3 49726174 49726174 single base substitution A G upstream_gene_variant LUSC-KR 3 49726318 49726318 single base substitution T C upstream_gene_variant LUSC-KR 3 49726406 49726406 single base substitution C T upstream_gene_variant LUSC-KR 3 49726419 49726419 single base substitution G C upstream_gene_variant LUSC-KR 3 49728818 49728818 single base substitution G C intron_variant LUSC-KR 3 49733479 49733479 single base substitution A G intron_variant LUSC-KR 3 49733479 49733479 single base substitution A G upstream_gene_variant LUSC-KR 3 49734517 49734517 single base substitution G T exon_variant LUSC-KR 3 49734517 49734517 single base substitution G T intron_variant LUSC-KR 3 49734517 49734517 single base substitution G T upstream_gene_variant LUSC-KR 3 49745923 49745923 single base substitution C G intron_variant LUSC-KR 3 49745923 49745923 single base substitution C G upstream_gene_variant LUSC-KR 3 49751224 49751224 single base substitution T A 3_prime_UTR_variant LUSC-KR 3 49751224 49751224 single base substitution T A downstream_gene_variant LUSC-KR 3 49751224 49751224 single base substitution T A exon_variant LUSC-KR 3 49751224 49751224 single base substitution T A intron_variant LUSC-KR 3 49751224 49751224 single base substitution T A missense_variant S47T 139T>A LUSC-KR 3 49751224 49751224 single base substitution T A missense_variant S935T 2803T>A LUSC-KR 3 49751224 49751224 single base substitution T A upstream_gene_variant LUSC-KR 3 49758063 49758063 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 49758063 49758063 single base substitution G A downstream_gene_variant LUSC-KR 3 49758063 49758063 single base substitution G A exon_variant LUSC-KR 3 49758063 49758063 single base substitution G A missense_variant R1207Q 3620G>A LUSC-KR 3 49758063 49758063 single base substitution G A missense_variant R319Q 956G>A LUSC-US 3 49723334 49723334 single base substitution G A upstream_gene_variant LUSC-US 3 49723522 49723522 single base substitution G A upstream_gene_variant LUSC-US 3 49724666 49724666 single base substitution C A upstream_gene_variant LUSC-US 3 49736430 49736430 single base substitution G A downstream_gene_variant LUSC-US 3 49736430 49736430 single base substitution G A exon_variant LUSC-US 3 49736430 49736430 single base substitution G A missense_variant G219D 656G>A LUSC-US 3 49736430 49736430 single base substitution G A missense_variant G73D 218G>A LUSC-US 3 49736430 49736430 single base substitution G A upstream_gene_variant LUSC-US 3 49742178 49742178 single base substitution G T downstream_gene_variant LUSC-US 3 49742178 49742178 single base substitution G T exon_variant LUSC-US 3 49742178 49742178 single base substitution G T missense_variant A504S 1510G>T LUSC-US 3 49742178 49742178 single base substitution G T missense_variant A650S 1948G>T LUSC-US 3 49753120 49753120 single base substitution C T 3_prime_UTR_variant LUSC-US 3 49753120 49753120 single base substitution C T downstream_gene_variant LUSC-US 3 49753120 49753120 single base substitution C T exon_variant LUSC-US 3 49753120 49753120 single base substitution C T synonymous_variant F1041F 3123C>T LUSC-US 3 49753120 49753120 single base substitution C T synonymous_variant F153F 459C>T LUSC-US 3 49753120 49753120 single base substitution C T upstream_gene_variant LUSC-US 3 49758714 49758714 single base substitution G T 3_prime_UTR_variant LUSC-US 3 49758714 49758714 single base substitution G T downstream_gene_variant LUSC-US 3 49758714 49758714 single base substitution G T exon_variant LUSC-US 3 49758714 49758714 single base substitution G T synonymous_variant T1307T 3921G>T LUSC-US 3 49758714 49758714 single base substitution G T synonymous_variant T419T 1257G>T MALY-DE 3 49722982 49722982 insertion of <=200bp - GT upstream_gene_variant MALY-DE 3 49732474 49732474 single base substitution C T intron_variant MALY-DE 3 49736957 49736957 single base substitution G A downstream_gene_variant MALY-DE 3 49736957 49736957 single base substitution G A exon_variant MALY-DE 3 49736957 49736957 single base substitution G A missense_variant R128Q 383G>A MALY-DE 3 49736957 49736957 single base substitution G A missense_variant R274Q 821G>A MALY-DE 3 49736957 49736957 single base substitution G A upstream_gene_variant MALY-DE 3 49740114 49740114 single base substitution C T downstream_gene_variant MALY-DE 3 49740114 49740114 single base substitution C T exon_variant MALY-DE 3 49740114 49740114 single base substitution C T missense_variant R414W 1240C>T MALY-DE 3 49740114 49740114 single base substitution C T missense_variant R560W 1678C>T MALY-DE 3 49748132 49748132 single base substitution T G intron_variant MALY-DE 3 49748132 49748132 single base substitution T G upstream_gene_variant MALY-DE 3 49751371 49751371 single base substitution G A 3_prime_UTR_variant MALY-DE 3 49751371 49751371 single base substitution G A downstream_gene_variant MALY-DE 3 49751371 49751371 single base substitution G A exon_variant MALY-DE 3 49751371 49751371 single base substitution G A missense_variant A68T 202G>A MALY-DE 3 49751371 49751371 single base substitution G A missense_variant A956T 2866G>A MALY-DE 3 49751371 49751371 single base substitution G A upstream_gene_variant MALY-DE 3 49760065 49760065 single base substitution C G downstream_gene_variant MALY-DE 3 49761131 49761131 single base substitution T C downstream_gene_variant MELA-AU 3 49722502 49722502 single base substitution C T upstream_gene_variant MELA-AU 3 49722729 49722730 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 49724011 49724011 single base substitution G T upstream_gene_variant MELA-AU 3 49725948 49725948 single base substitution C T upstream_gene_variant MELA-AU 3 49725973 49725973 single base substitution G A upstream_gene_variant MELA-AU 3 49726212 49726213 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 49726618 49726618 single base substitution G A upstream_gene_variant MELA-AU 3 49727088 49727088 single base substitution C T 5_prime_UTR_variant MELA-AU 3 49727088 49727088 single base substitution C T intron_variant MELA-AU 3 49727292 49727292 single base substitution T C intron_variant MELA-AU 3 49728439 49728439 single base substitution C T intron_variant MELA-AU 3 49728489 49728489 single base substitution G T intron_variant MELA-AU 3 49728606 49728606 single base substitution C T exon_variant MELA-AU 3 49728606 49728606 single base substitution C T intron_variant MELA-AU 3 49728606 49728606 single base substitution C T missense_variant S3F 8C>T MELA-AU 3 49728726 49728726 single base substitution G A intron_variant MELA-AU 3 49729165 49729165 single base substitution G A intron_variant MELA-AU 3 49729182 49729182 single base substitution A T intron_variant MELA-AU 3 49729702 49729702 single base substitution C T intron_variant MELA-AU 3 49730043 49730043 single base substitution C T intron_variant MELA-AU 3 49730117 49730117 single base substitution T A intron_variant MELA-AU 3 49730233 49730233 single base substitution G A intron_variant MELA-AU 3 49730679 49730679 single base substitution C T intron_variant MELA-AU 3 49730763 49730763 single base substitution G A intron_variant MELA-AU 3 49731221 49731221 single base substitution A G intron_variant MELA-AU 3 49731304 49731304 single base substitution C T intron_variant MELA-AU 3 49731811 49731811 single base substitution C T intron_variant MELA-AU 3 49731825 49731825 single base substitution C T intron_variant MELA-AU 3 49733379 49733379 single base substitution C T intron_variant MELA-AU 3 49733379 49733379 single base substitution C T upstream_gene_variant MELA-AU 3 49733790 49733790 single base substitution T A intron_variant MELA-AU 3 49733790 49733790 single base substitution T A upstream_gene_variant MELA-AU 3 49733854 49733855 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 3 49733854 49733855 multiple base substitution (>=2bp and <=200bp) TC CT upstream_gene_variant MELA-AU 3 49734418 49734418 single base substitution C T intron_variant MELA-AU 3 49734418 49734418 single base substitution C T upstream_gene_variant MELA-AU 3 49735086 49735086 single base substitution T A downstream_gene_variant MELA-AU 3 49735086 49735086 single base substitution T A intron_variant MELA-AU 3 49735086 49735086 single base substitution T A upstream_gene_variant MELA-AU 3 49735259 49735259 single base substitution C T downstream_gene_variant MELA-AU 3 49735259 49735259 single base substitution C T intron_variant MELA-AU 3 49735259 49735259 single base substitution C T upstream_gene_variant MELA-AU 3 49735302 49735302 single base substitution C A downstream_gene_variant MELA-AU 3 49735302 49735302 single base substitution C A intron_variant MELA-AU 3 49735302 49735302 single base substitution C A upstream_gene_variant MELA-AU 3 49735718 49735718 single base substitution C T downstream_gene_variant MELA-AU 3 49735718 49735718 single base substitution C T intron_variant MELA-AU 3 49735718 49735718 single base substitution C T upstream_gene_variant MELA-AU 3 49735773 49735773 single base substitution C T downstream_gene_variant MELA-AU 3 49735773 49735773 single base substitution C T intron_variant MELA-AU 3 49735773 49735773 single base substitution C T upstream_gene_variant MELA-AU 3 49736246 49736246 single base substitution C T downstream_gene_variant MELA-AU 3 49736246 49736246 single base substitution C T exon_variant MELA-AU 3 49736246 49736246 single base substitution C T missense_variant S210F 629C>T MELA-AU 3 49736246 49736246 single base substitution C T missense_variant S64F 191C>T MELA-AU 3 49736246 49736246 single base substitution C T upstream_gene_variant MELA-AU 3 49736326 49736326 single base substitution C T downstream_gene_variant MELA-AU 3 49736326 49736326 single base substitution C T intron_variant MELA-AU 3 49736326 49736326 single base substitution C T upstream_gene_variant MELA-AU 3 49736407 49736407 single base substitution C T downstream_gene_variant MELA-AU 3 49736407 49736407 single base substitution C T splice_region_variant MELA-AU 3 49736407 49736407 single base substitution C T upstream_gene_variant MELA-AU 3 49736477 49736477 single base substitution C T downstream_gene_variant MELA-AU 3 49736477 49736477 single base substitution C T exon_variant MELA-AU 3 49736477 49736477 single base substitution C T missense_variant P235S 703C>T MELA-AU 3 49736477 49736477 single base substitution C T missense_variant P89S 265C>T MELA-AU 3 49736477 49736477 single base substitution C T upstream_gene_variant MELA-AU 3 49736760 49736760 single base substitution C T downstream_gene_variant MELA-AU 3 49736760 49736760 single base substitution C T intron_variant MELA-AU 3 49736760 49736760 single base substitution C T upstream_gene_variant MELA-AU 3 49737130 49737130 single base substitution C T downstream_gene_variant MELA-AU 3 49737130 49737130 single base substitution C T exon_variant MELA-AU 3 49737130 49737130 single base substitution C T synonymous_variant S157S 471C>T MELA-AU 3 49737130 49737130 single base substitution C T synonymous_variant S303S 909C>T MELA-AU 3 49737130 49737130 single base substitution C T upstream_gene_variant MELA-AU 3 49737440 49737441 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 49737440 49737441 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 3 49737440 49737441 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 49737440 49737441 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 49737503 49737503 single base substitution C T downstream_gene_variant MELA-AU 3 49737503 49737503 single base substitution C T exon_variant MELA-AU 3 49737503 49737503 single base substitution C T intron_variant MELA-AU 3 49737503 49737503 single base substitution C T upstream_gene_variant MELA-AU 3 49737672 49737672 single base substitution C T downstream_gene_variant MELA-AU 3 49737672 49737672 single base substitution C T exon_variant MELA-AU 3 49737672 49737672 single base substitution C T synonymous_variant L187L 559C>T MELA-AU 3 49737672 49737672 single base substitution C T synonymous_variant L333L 997C>T MELA-AU 3 49737672 49737672 single base substitution C T upstream_gene_variant MELA-AU 3 49737829 49737829 single base substitution C T downstream_gene_variant MELA-AU 3 49737829 49737829 single base substitution C T exon_variant MELA-AU 3 49737829 49737829 single base substitution C T intron_variant MELA-AU 3 49737829 49737829 single base substitution C T upstream_gene_variant MELA-AU 3 49738552 49738552 single base substitution C T downstream_gene_variant MELA-AU 3 49738552 49738552 single base substitution C T intron_variant MELA-AU 3 49738905 49738905 single base substitution C T downstream_gene_variant MELA-AU 3 49738905 49738905 single base substitution C T intron_variant MELA-AU 3 49739364 49739364 single base substitution G A downstream_gene_variant MELA-AU 3 49739364 49739364 single base substitution G A exon_variant MELA-AU 3 49739364 49739364 single base substitution G A intron_variant MELA-AU 3 49739670 49739670 single base substitution C T downstream_gene_variant MELA-AU 3 49739670 49739670 single base substitution C T intron_variant MELA-AU 3 49739965 49739965 single base substitution C T downstream_gene_variant MELA-AU 3 49739965 49739965 single base substitution C T intron_variant MELA-AU 3 49740308 49740308 single base substitution C T downstream_gene_variant MELA-AU 3 49740308 49740308 single base substitution C T intron_variant MELA-AU 3 49740724 49740724 single base substitution C T downstream_gene_variant MELA-AU 3 49740724 49740724 single base substitution C T intron_variant MELA-AU 3 49740834 49740835 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 3 49740834 49740835 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 3 49741241 49741241 single base substitution C T downstream_gene_variant MELA-AU 3 49741241 49741241 single base substitution C T intron_variant MELA-AU 3 49741510 49741510 single base substitution C T downstream_gene_variant MELA-AU 3 49741510 49741510 single base substitution C T intron_variant MELA-AU 3 49741913 49741913 single base substitution G A downstream_gene_variant MELA-AU 3 49741913 49741913 single base substitution G A intron_variant MELA-AU 3 49742233 49742233 single base substitution C T downstream_gene_variant MELA-AU 3 49742233 49742233 single base substitution C T exon_variant MELA-AU 3 49742233 49742233 single base substitution C T intron_variant MELA-AU 3 49742823 49742823 single base substitution C T downstream_gene_variant MELA-AU 3 49742823 49742823 single base substitution C T intron_variant MELA-AU 3 49742938 49742938 single base substitution C T downstream_gene_variant MELA-AU 3 49742938 49742938 single base substitution C T intron_variant MELA-AU 3 49743010 49743010 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49743010 49743010 single base substitution C T downstream_gene_variant MELA-AU 3 49743010 49743010 single base substitution C T exon_variant MELA-AU 3 49743010 49743010 single base substitution C T synonymous_variant P588P 1764C>T MELA-AU 3 49743010 49743010 single base substitution C T synonymous_variant P734P 2202C>T MELA-AU 3 49743022 49743022 single base substitution T A 3_prime_UTR_variant MELA-AU 3 49743022 49743022 single base substitution T A downstream_gene_variant MELA-AU 3 49743022 49743022 single base substitution T A exon_variant MELA-AU 3 49743022 49743022 single base substitution T A synonymous_variant P592P 1776T>A MELA-AU 3 49743022 49743022 single base substitution T A synonymous_variant P738P 2214T>A MELA-AU 3 49743401 49743401 single base substitution C T downstream_gene_variant MELA-AU 3 49743401 49743401 single base substitution C T exon_variant MELA-AU 3 49743401 49743401 single base substitution C T intron_variant MELA-AU 3 49743540 49743540 single base substitution C T downstream_gene_variant MELA-AU 3 49743540 49743540 single base substitution C T intron_variant MELA-AU 3 49743598 49743598 single base substitution C T downstream_gene_variant MELA-AU 3 49743598 49743598 single base substitution C T intron_variant MELA-AU 3 49743630 49743630 single base substitution G A downstream_gene_variant MELA-AU 3 49743630 49743630 single base substitution G A intron_variant MELA-AU 3 49743665 49743665 single base substitution C T downstream_gene_variant MELA-AU 3 49743665 49743665 single base substitution C T intron_variant MELA-AU 3 49743883 49743883 single base substitution C T downstream_gene_variant MELA-AU 3 49743883 49743883 single base substitution C T intron_variant MELA-AU 3 49743936 49743936 single base substitution C T downstream_gene_variant MELA-AU 3 49743936 49743936 single base substitution C T intron_variant MELA-AU 3 49744015 49744015 single base substitution C A downstream_gene_variant MELA-AU 3 49744015 49744015 single base substitution C A intron_variant MELA-AU 3 49744126 49744126 single base substitution C T downstream_gene_variant MELA-AU 3 49744126 49744126 single base substitution C T intron_variant MELA-AU 3 49744372 49744372 single base substitution C T downstream_gene_variant MELA-AU 3 49744372 49744372 single base substitution C T intron_variant MELA-AU 3 49744832 49744832 deletion of <=200bp T - intron_variant MELA-AU 3 49745601 49745601 single base substitution T C intron_variant MELA-AU 3 49745601 49745601 single base substitution T C upstream_gene_variant MELA-AU 3 49745889 49745889 single base substitution G A intron_variant MELA-AU 3 49745889 49745889 single base substitution G A upstream_gene_variant MELA-AU 3 49745912 49745912 single base substitution C T intron_variant MELA-AU 3 49745912 49745912 single base substitution C T upstream_gene_variant MELA-AU 3 49746497 49746497 single base substitution C T intron_variant MELA-AU 3 49746497 49746497 single base substitution C T upstream_gene_variant MELA-AU 3 49747114 49747114 single base substitution C T intron_variant MELA-AU 3 49747114 49747114 single base substitution C T upstream_gene_variant MELA-AU 3 49747435 49747435 single base substitution C T intron_variant MELA-AU 3 49747435 49747435 single base substitution C T upstream_gene_variant MELA-AU 3 49749364 49749364 single base substitution C T intron_variant MELA-AU 3 49749364 49749364 single base substitution C T upstream_gene_variant MELA-AU 3 49749572 49749572 single base substitution C T intron_variant MELA-AU 3 49749572 49749572 single base substitution C T upstream_gene_variant MELA-AU 3 49750003 49750003 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49750003 49750003 single base substitution C T exon_variant MELA-AU 3 49750003 49750003 single base substitution C T missense_variant P717L 2150C>T MELA-AU 3 49750003 49750003 single base substitution C T missense_variant P863L 2588C>T MELA-AU 3 49750003 49750003 single base substitution C T upstream_gene_variant MELA-AU 3 49750144 49750144 single base substitution C A 3_prime_UTR_variant MELA-AU 3 49750144 49750144 single base substitution C A exon_variant MELA-AU 3 49750144 49750144 single base substitution C A intron_variant MELA-AU 3 49750144 49750144 single base substitution C A upstream_gene_variant MELA-AU 3 49750487 49750487 single base substitution G A downstream_gene_variant MELA-AU 3 49750487 49750487 single base substitution G A exon_variant MELA-AU 3 49750487 49750487 single base substitution G A intron_variant MELA-AU 3 49750487 49750487 single base substitution G A upstream_gene_variant MELA-AU 3 49750523 49750524 multiple base substitution (>=2bp and <=200bp) CT GC downstream_gene_variant MELA-AU 3 49750523 49750524 multiple base substitution (>=2bp and <=200bp) CT GC exon_variant MELA-AU 3 49750523 49750524 multiple base substitution (>=2bp and <=200bp) CT GC intron_variant MELA-AU 3 49750523 49750524 multiple base substitution (>=2bp and <=200bp) CT GC upstream_gene_variant MELA-AU 3 49750601 49750601 single base substitution C T downstream_gene_variant MELA-AU 3 49750601 49750601 single base substitution C T exon_variant MELA-AU 3 49750601 49750601 single base substitution C T intron_variant MELA-AU 3 49750601 49750601 single base substitution C T upstream_gene_variant MELA-AU 3 49751056 49751056 single base substitution G A downstream_gene_variant MELA-AU 3 49751056 49751056 single base substitution G A intron_variant MELA-AU 3 49751056 49751056 single base substitution G A upstream_gene_variant MELA-AU 3 49751449 49751449 single base substitution G A downstream_gene_variant MELA-AU 3 49751449 49751449 single base substitution G A intron_variant MELA-AU 3 49751449 49751449 single base substitution G A upstream_gene_variant MELA-AU 3 49751770 49751770 single base substitution C T downstream_gene_variant MELA-AU 3 49751770 49751770 single base substitution C T intron_variant MELA-AU 3 49751770 49751770 single base substitution C T upstream_gene_variant MELA-AU 3 49751842 49751842 single base substitution C T downstream_gene_variant MELA-AU 3 49751842 49751842 single base substitution C T intron_variant MELA-AU 3 49751842 49751842 single base substitution C T upstream_gene_variant MELA-AU 3 49751932 49751932 single base substitution C T downstream_gene_variant MELA-AU 3 49751932 49751932 single base substitution C T intron_variant MELA-AU 3 49751932 49751932 single base substitution C T upstream_gene_variant MELA-AU 3 49751979 49751979 single base substitution C T downstream_gene_variant MELA-AU 3 49751979 49751979 single base substitution C T intron_variant MELA-AU 3 49751979 49751979 single base substitution C T upstream_gene_variant MELA-AU 3 49751989 49751989 single base substitution C T downstream_gene_variant MELA-AU 3 49751989 49751989 single base substitution C T intron_variant MELA-AU 3 49751989 49751989 single base substitution C T upstream_gene_variant MELA-AU 3 49752055 49752055 single base substitution C T downstream_gene_variant MELA-AU 3 49752055 49752055 single base substitution C T intron_variant MELA-AU 3 49752055 49752055 single base substitution C T upstream_gene_variant MELA-AU 3 49754914 49754914 single base substitution C T downstream_gene_variant MELA-AU 3 49754914 49754914 single base substitution C T intron_variant MELA-AU 3 49754914 49754914 single base substitution C T upstream_gene_variant MELA-AU 3 49756613 49756613 single base substitution C T downstream_gene_variant MELA-AU 3 49756613 49756613 single base substitution C T intron_variant MELA-AU 3 49756613 49756613 single base substitution C T upstream_gene_variant MELA-AU 3 49757393 49757393 single base substitution G A downstream_gene_variant MELA-AU 3 49757393 49757393 single base substitution G A intron_variant MELA-AU 3 49757393 49757393 single base substitution G A upstream_gene_variant MELA-AU 3 49757935 49757935 single base substitution C T downstream_gene_variant MELA-AU 3 49757935 49757935 single base substitution C T intron_variant MELA-AU 3 49757935 49757935 single base substitution C T upstream_gene_variant MELA-AU 3 49761472 49761472 single base substitution G A downstream_gene_variant MELA-AU 3 49761544 49761544 single base substitution G A downstream_gene_variant MELA-AU 3 49762868 49762868 single base substitution G A downstream_gene_variant MELA-AU 3 49762938 49762938 single base substitution G A downstream_gene_variant MELA-AU 3 49763683 49763683 single base substitution G A downstream_gene_variant MELA-AU 3 49763914 49763914 single base substitution T C downstream_gene_variant ORCA-IN 3 49735135 49735135 single base substitution C T downstream_gene_variant ORCA-IN 3 49735135 49735135 single base substitution C T intron_variant ORCA-IN 3 49735135 49735135 single base substitution C T upstream_gene_variant ORCA-IN 3 49745648 49745648 single base substitution C T intron_variant ORCA-IN 3 49745648 49745648 single base substitution C T upstream_gene_variant ORCA-IN 3 49756059 49756059 single base substitution G T downstream_gene_variant ORCA-IN 3 49756059 49756059 single base substitution G T intron_variant ORCA-IN 3 49756059 49756059 single base substitution G T upstream_gene_variant OV-AU 3 49722502 49722502 single base substitution C T upstream_gene_variant OV-AU 3 49723636 49723636 single base substitution G T upstream_gene_variant OV-AU 3 49724005 49724005 single base substitution C A upstream_gene_variant OV-AU 3 49726371 49726371 single base substitution G C upstream_gene_variant OV-AU 3 49745104 49745104 single base substitution T G intron_variant OV-AU 3 49745104 49745104 single base substitution T G upstream_gene_variant OV-AU 3 49745577 49745577 single base substitution G A intron_variant OV-AU 3 49745577 49745577 single base substitution G A upstream_gene_variant OV-AU 3 49745630 49745630 single base substitution C G intron_variant OV-AU 3 49745630 49745630 single base substitution C G upstream_gene_variant OV-AU 3 49751826 49751826 single base substitution T C downstream_gene_variant OV-AU 3 49751826 49751826 single base substitution T C intron_variant OV-AU 3 49751826 49751826 single base substitution T C upstream_gene_variant OV-AU 3 49755568 49755568 single base substitution G C downstream_gene_variant OV-AU 3 49755568 49755568 single base substitution G C exon_variant OV-AU 3 49755568 49755568 single base substitution G C intron_variant OV-AU 3 49755568 49755568 single base substitution G C upstream_gene_variant OV-AU 3 49758298 49758298 single base substitution G C 3_prime_UTR_variant OV-AU 3 49758298 49758298 single base substitution G C downstream_gene_variant OV-AU 3 49758298 49758298 single base substitution G C exon_variant OV-AU 3 49758298 49758298 single base substitution G C missense_variant A1237P 3709G>C OV-AU 3 49758298 49758298 single base substitution G C missense_variant A349P 1045G>C PACA-AU 3 49722771 49722771 deletion of <=200bp C - upstream_gene_variant PACA-AU 3 49724496 49724496 single base substitution C A upstream_gene_variant PACA-AU 3 49725021 49725021 single base substitution C T upstream_gene_variant PACA-AU 3 49726834 49726834 single base substitution G C upstream_gene_variant PACA-AU 3 49729021 49729021 single base substitution G A intron_variant PACA-AU 3 49730015 49730015 deletion of <=200bp T - intron_variant PACA-AU 3 49733623 49733623 single base substitution T G intron_variant PACA-AU 3 49733623 49733623 single base substitution T G upstream_gene_variant PACA-AU 3 49733624 49733624 single base substitution T C intron_variant PACA-AU 3 49733624 49733624 single base substitution T C upstream_gene_variant PACA-AU 3 49741137 49741137 single base substitution T C downstream_gene_variant PACA-AU 3 49741137 49741137 single base substitution T C intron_variant PACA-AU 3 49742275 49742275 single base substitution G A downstream_gene_variant PACA-AU 3 49742275 49742275 single base substitution G A exon_variant PACA-AU 3 49742275 49742275 single base substitution G A intron_variant PACA-AU 3 49748931 49748931 single base substitution C G intron_variant PACA-AU 3 49748931 49748931 single base substitution C G upstream_gene_variant PACA-AU 3 49750286 49750286 single base substitution A G 3_prime_UTR_variant PACA-AU 3 49750286 49750286 single base substitution A G 5_prime_UTR_variant PACA-AU 3 49750286 49750286 single base substitution A G downstream_gene_variant PACA-AU 3 49750286 49750286 single base substitution A G exon_variant PACA-AU 3 49750286 49750286 single base substitution A G intron_variant PACA-AU 3 49750286 49750286 single base substitution A G upstream_gene_variant PACA-AU 3 49751023 49751023 single base substitution G A downstream_gene_variant PACA-AU 3 49751023 49751023 single base substitution G A intron_variant PACA-AU 3 49751023 49751023 single base substitution G A splice_region_variant PACA-AU 3 49751023 49751023 single base substitution G A upstream_gene_variant PACA-AU 3 49757131 49757131 single base substitution G C downstream_gene_variant PACA-AU 3 49757131 49757131 single base substitution G C intron_variant PACA-AU 3 49757131 49757131 single base substitution G C upstream_gene_variant PACA-AU 3 49758015 49758015 single base substitution G A 3_prime_UTR_variant PACA-AU 3 49758015 49758015 single base substitution G A downstream_gene_variant PACA-AU 3 49758015 49758015 single base substitution G A exon_variant PACA-AU 3 49758015 49758015 single base substitution G A missense_variant G1191E 3572G>A PACA-AU 3 49758015 49758015 single base substitution G A missense_variant G303E 908G>A PACA-CA 3 49722081 49722081 single base substitution G A upstream_gene_variant PACA-CA 3 49723916 49723916 single base substitution T G upstream_gene_variant PACA-CA 3 49726318 49726318 single base substitution T C upstream_gene_variant PACA-CA 3 49727588 49727588 single base substitution T G intron_variant PACA-CA 3 49730029 49730029 single base substitution T C intron_variant PACA-CA 3 49731301 49731301 single base substitution T A intron_variant PACA-CA 3 49734131 49734131 single base substitution A G intron_variant PACA-CA 3 49734131 49734131 single base substitution A G upstream_gene_variant PACA-CA 3 49734462 49734462 single base substitution T C intron_variant PACA-CA 3 49734462 49734462 single base substitution T C upstream_gene_variant PACA-CA 3 49736308 49736308 insertion of <=200bp - C downstream_gene_variant PACA-CA 3 49736308 49736308 insertion of <=200bp - C intron_variant PACA-CA 3 49736308 49736308 insertion of <=200bp - C upstream_gene_variant PACA-CA 3 49737003 49737003 single base substitution G T downstream_gene_variant PACA-CA 3 49737003 49737003 single base substitution G T exon_variant PACA-CA 3 49737003 49737003 single base substitution G T missense_variant E143D 429G>T PACA-CA 3 49737003 49737003 single base substitution G T missense_variant E289D 867G>T PACA-CA 3 49737003 49737003 single base substitution G T upstream_gene_variant PACA-CA 3 49740925 49740925 single base substitution G A downstream_gene_variant PACA-CA 3 49740925 49740925 single base substitution G A exon_variant PACA-CA 3 49740925 49740925 single base substitution G A missense_variant G460R 1378G>A PACA-CA 3 49740925 49740925 single base substitution G A missense_variant G606R 1816G>A PACA-CA 3 49741527 49741527 single base substitution T C downstream_gene_variant PACA-CA 3 49741527 49741527 single base substitution T C intron_variant PACA-CA 3 49743710 49743710 single base substitution A C downstream_gene_variant PACA-CA 3 49743710 49743710 single base substitution A C intron_variant PACA-CA 3 49744435 49744435 single base substitution G T downstream_gene_variant PACA-CA 3 49744435 49744435 single base substitution G T intron_variant PACA-CA 3 49751483 49751483 single base substitution G A downstream_gene_variant PACA-CA 3 49751483 49751483 single base substitution G A intron_variant PACA-CA 3 49751483 49751483 single base substitution G A upstream_gene_variant PACA-CA 3 49752437 49752437 single base substitution G A downstream_gene_variant PACA-CA 3 49752437 49752437 single base substitution G A intron_variant PACA-CA 3 49752437 49752437 single base substitution G A upstream_gene_variant PACA-CA 3 49756175 49756175 single base substitution C T downstream_gene_variant PACA-CA 3 49756175 49756175 single base substitution C T intron_variant PACA-CA 3 49756175 49756175 single base substitution C T upstream_gene_variant PACA-CA 3 49756593 49756593 single base substitution G A downstream_gene_variant PACA-CA 3 49756593 49756593 single base substitution G A intron_variant PACA-CA 3 49756593 49756593 single base substitution G A upstream_gene_variant PACA-CA 3 49758285 49758285 single base substitution G A 3_prime_UTR_variant PACA-CA 3 49758285 49758285 single base substitution G A downstream_gene_variant PACA-CA 3 49758285 49758285 single base substitution G A exon_variant PACA-CA 3 49758285 49758285 single base substitution G A synonymous_variant A1232A 3696G>A PACA-CA 3 49758285 49758285 single base substitution G A synonymous_variant A344A 1032G>A PACA-CA 3 49762639 49762639 single base substitution C T downstream_gene_variant PAEN-AU 3 49733736 49733736 single base substitution C T intron_variant PAEN-AU 3 49733736 49733736 single base substitution C T upstream_gene_variant PAEN-IT 3 49743503 49743503 single base substitution G C downstream_gene_variant PAEN-IT 3 49743503 49743503 single base substitution G C splice_region_variant PAEN-IT 3 49747619 49747619 single base substitution T C intron_variant PAEN-IT 3 49747619 49747619 single base substitution T C upstream_gene_variant PBCA-DE 3 49723462 49723462 insertion of <=200bp - C upstream_gene_variant PBCA-DE 3 49724049 49724049 deletion of <=200bp C - upstream_gene_variant PBCA-DE 3 49738247 49738247 single base substitution C T downstream_gene_variant PBCA-DE 3 49738247 49738247 single base substitution C T intron_variant PRAD-CA 3 49726871 49726871 single base substitution G A upstream_gene_variant PRAD-CA 3 49730483 49730483 single base substitution G T intron_variant PRAD-UK 3 49724011 49724011 single base substitution G T upstream_gene_variant PRAD-UK 3 49756434 49756434 single base substitution G A downstream_gene_variant PRAD-UK 3 49756434 49756434 single base substitution G A intron_variant PRAD-UK 3 49756434 49756434 single base substitution G A upstream_gene_variant PRAD-UK 3 49760349 49760349 insertion of <=200bp - G downstream_gene_variant PRAD-UK 3 49760352 49760352 insertion of <=200bp - G downstream_gene_variant PRAD-US 3 49723304 49723304 single base substitution C T upstream_gene_variant PRAD-US 3 49723596 49723596 single base substitution G A upstream_gene_variant PRAD-US 3 49723603 49723603 single base substitution G A upstream_gene_variant PRAD-US 3 49755885 49755885 single base substitution G A downstream_gene_variant PRAD-US 3 49755885 49755885 single base substitution G A exon_variant PRAD-US 3 49755885 49755885 single base substitution G A intron_variant PRAD-US 3 49755885 49755885 single base substitution G A upstream_gene_variant PRAD-US 3 49756813 49756813 insertion of <=200bp - G downstream_gene_variant PRAD-US 3 49756813 49756813 insertion of <=200bp - G intron_variant PRAD-US 3 49756813 49756813 insertion of <=200bp - G upstream_gene_variant PRAD-US 3 49759676 49759676 single base substitution G A downstream_gene_variant READ-US 3 49724706 49724706 single base substitution A G upstream_gene_variant READ-US 3 49724857 49724857 single base substitution G A upstream_gene_variant READ-US 3 49736538 49736538 single base substitution G A downstream_gene_variant READ-US 3 49736538 49736538 single base substitution G A missense_variant R109H 326G>A READ-US 3 49736538 49736538 single base substitution G A missense_variant R255H 764G>A READ-US 3 49736538 49736538 single base substitution G A splice_region_variant READ-US 3 49736538 49736538 single base substitution G A upstream_gene_variant READ-US 3 49739306 49739306 single base substitution C T downstream_gene_variant READ-US 3 49739306 49739306 single base substitution C T exon_variant READ-US 3 49739306 49739306 single base substitution C T synonymous_variant Y340Y 1020C>T READ-US 3 49739306 49739306 single base substitution C T synonymous_variant Y486Y 1458C>T READ-US 3 49755957 49755957 single base substitution C T downstream_gene_variant READ-US 3 49755957 49755957 single base substitution C T exon_variant READ-US 3 49755957 49755957 single base substitution C T intron_variant READ-US 3 49755957 49755957 single base substitution C T upstream_gene_variant READ-US 3 49756319 49756319 single base substitution G A downstream_gene_variant READ-US 3 49756319 49756319 single base substitution G A intron_variant READ-US 3 49756319 49756319 single base substitution G A upstream_gene_variant RECA-EU 3 49723236 49723236 single base substitution A G upstream_gene_variant RECA-EU 3 49725743 49725743 single base substitution T C upstream_gene_variant RECA-EU 3 49726254 49726254 single base substitution A T upstream_gene_variant RECA-EU 3 49742792 49742792 single base substitution C T downstream_gene_variant RECA-EU 3 49742792 49742792 single base substitution C T intron_variant SKCA-BR 3 49722075 49722075 single base substitution T C upstream_gene_variant SKCA-BR 3 49723274 49723274 single base substitution G A upstream_gene_variant SKCA-BR 3 49723379 49723379 single base substitution T C upstream_gene_variant SKCA-BR 3 49724014 49724014 single base substitution G A upstream_gene_variant SKCA-BR 3 49724260 49724260 single base substitution C G upstream_gene_variant SKCA-BR 3 49725815 49725815 single base substitution G A upstream_gene_variant SKCA-BR 3 49726028 49726028 single base substitution T C upstream_gene_variant SKCA-BR 3 49726070 49726070 single base substitution G A upstream_gene_variant SKCA-BR 3 49726977 49726977 single base substitution G A 5_prime_UTR_variant SKCA-BR 3 49726977 49726977 single base substitution G A upstream_gene_variant SKCA-BR 3 49727076 49727076 single base substitution T G 5_prime_UTR_variant SKCA-BR 3 49727076 49727076 single base substitution T G intron_variant SKCA-BR 3 49727564 49727564 single base substitution T G intron_variant SKCA-BR 3 49727575 49727575 single base substitution T G intron_variant SKCA-BR 3 49728954 49728954 single base substitution T G intron_variant SKCA-BR 3 49730058 49730058 single base substitution A G intron_variant SKCA-BR 3 49730266 49730266 single base substitution C T intron_variant SKCA-BR 3 49731716 49731716 single base substitution C T intron_variant SKCA-BR 3 49733782 49733783 deletion of <=200bp CT - intron_variant SKCA-BR 3 49733782 49733783 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 3 49734040 49734040 single base substitution G T intron_variant SKCA-BR 3 49734040 49734040 single base substitution G T upstream_gene_variant SKCA-BR 3 49734256 49734260 deletion of <=200bp TTTTA - intron_variant SKCA-BR 3 49734256 49734260 deletion of <=200bp TTTTA - upstream_gene_variant SKCA-BR 3 49735541 49735541 single base substitution T G downstream_gene_variant SKCA-BR 3 49735541 49735541 single base substitution T G exon_variant SKCA-BR 3 49735541 49735541 single base substitution T G missense_variant C152G 454T>G SKCA-BR 3 49735541 49735541 single base substitution T G missense_variant C6G 16T>G SKCA-BR 3 49735541 49735541 single base substitution T G upstream_gene_variant SKCA-BR 3 49735579 49735579 single base substitution T G downstream_gene_variant SKCA-BR 3 49735579 49735579 single base substitution T G intron_variant SKCA-BR 3 49735579 49735579 single base substitution T G upstream_gene_variant SKCA-BR 3 49735589 49735589 single base substitution A C downstream_gene_variant SKCA-BR 3 49735589 49735589 single base substitution A C intron_variant SKCA-BR 3 49735589 49735589 single base substitution A C upstream_gene_variant SKCA-BR 3 49742075 49742075 single base substitution C T downstream_gene_variant SKCA-BR 3 49742075 49742075 single base substitution C T splice_region_variant SKCA-BR 3 49746932 49746932 single base substitution A C intron_variant SKCA-BR 3 49746932 49746932 single base substitution A C upstream_gene_variant SKCA-BR 3 49750957 49750957 single base substitution A C 3_prime_UTR_variant SKCA-BR 3 49750957 49750957 single base substitution A C downstream_gene_variant SKCA-BR 3 49750957 49750957 single base substitution A C exon_variant SKCA-BR 3 49750957 49750957 single base substitution A C missense_variant T896P 2686A>C SKCA-BR 3 49750957 49750957 single base substitution A C missense_variant T8P 22A>C SKCA-BR 3 49750957 49750957 single base substitution A C upstream_gene_variant SKCA-BR 3 49751175 49751175 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 49751175 49751175 single base substitution C T downstream_gene_variant SKCA-BR 3 49751175 49751175 single base substitution C T exon_variant SKCA-BR 3 49751175 49751175 single base substitution C T intron_variant SKCA-BR 3 49751175 49751175 single base substitution C T synonymous_variant I30I 90C>T SKCA-BR 3 49751175 49751175 single base substitution C T synonymous_variant I918I 2754C>T SKCA-BR 3 49751175 49751175 single base substitution C T upstream_gene_variant SKCA-BR 3 49751652 49751652 single base substitution C G downstream_gene_variant SKCA-BR 3 49751652 49751652 single base substitution C G intron_variant SKCA-BR 3 49751652 49751652 single base substitution C G upstream_gene_variant SKCA-BR 3 49752999 49752999 single base substitution C T downstream_gene_variant SKCA-BR 3 49752999 49752999 single base substitution C T exon_variant SKCA-BR 3 49752999 49752999 single base substitution C T intron_variant SKCA-BR 3 49752999 49752999 single base substitution C T upstream_gene_variant SKCA-BR 3 49753205 49753205 single base substitution G A downstream_gene_variant SKCA-BR 3 49753205 49753205 single base substitution G A intron_variant SKCA-BR 3 49753205 49753205 single base substitution G A upstream_gene_variant SKCA-BR 3 49754379 49754379 single base substitution A C downstream_gene_variant SKCA-BR 3 49754379 49754379 single base substitution A C intron_variant SKCA-BR 3 49754379 49754379 single base substitution A C upstream_gene_variant SKCA-BR 3 49757914 49757914 single base substitution C T downstream_gene_variant SKCA-BR 3 49757914 49757914 single base substitution C T intron_variant SKCA-BR 3 49757914 49757914 single base substitution C T upstream_gene_variant SKCA-BR 3 49759081 49759081 single base substitution C T downstream_gene_variant SKCA-BR 3 49761379 49761379 single base substitution G A downstream_gene_variant SKCA-BR 3 49761613 49761613 single base substitution C T downstream_gene_variant SKCA-BR 3 49763338 49763338 single base substitution T C downstream_gene_variant SKCM-US 3 49722209 49722209 single base substitution C T upstream_gene_variant SKCM-US 3 49722464 49722464 single base substitution G C upstream_gene_variant SKCM-US 3 49722502 49722502 single base substitution C G upstream_gene_variant SKCM-US 3 49723112 49723112 deletion of <=200bp T - upstream_gene_variant SKCM-US 3 49723120 49723120 single base substitution G A upstream_gene_variant SKCM-US 3 49723322 49723327 deletion of <=200bp GCGCTG - upstream_gene_variant SKCM-US 3 49723382 49723382 single base substitution G A upstream_gene_variant SKCM-US 3 49723577 49723577 single base substitution G A upstream_gene_variant SKCM-US 3 49724853 49724853 single base substitution C G upstream_gene_variant SKCM-US 3 49726071 49726071 single base substitution G A upstream_gene_variant SKCM-US 3 49728662 49728662 single base substitution G A exon_variant SKCM-US 3 49728662 49728662 single base substitution G A intron_variant SKCM-US 3 49728662 49728662 single base substitution G A missense_variant E22K 64G>A SKCM-US 3 49735512 49735512 single base substitution C T 5_prime_UTR_variant SKCM-US 3 49735512 49735512 single base substitution C T downstream_gene_variant SKCM-US 3 49735512 49735512 single base substitution C T exon_variant SKCM-US 3 49735512 49735512 single base substitution C T missense_variant S142F 425C>T SKCM-US 3 49735512 49735512 single base substitution C T upstream_gene_variant SKCM-US 3 49735880 49735880 single base substitution T C downstream_gene_variant SKCM-US 3 49735880 49735880 single base substitution T C exon_variant SKCM-US 3 49735880 49735880 single base substitution T C missense_variant V164A 491T>C SKCM-US 3 49735880 49735880 single base substitution T C missense_variant V18A 53T>C SKCM-US 3 49735880 49735880 single base substitution T C upstream_gene_variant SKCM-US 3 49736246 49736246 single base substitution C T downstream_gene_variant SKCM-US 3 49736246 49736246 single base substitution C T exon_variant SKCM-US 3 49736246 49736246 single base substitution C T missense_variant S210F 629C>T SKCM-US 3 49736246 49736246 single base substitution C T missense_variant S64F 191C>T SKCM-US 3 49736246 49736246 single base substitution C T upstream_gene_variant SKCM-US 3 49736478 49736478 single base substitution C T downstream_gene_variant SKCM-US 3 49736478 49736478 single base substitution C T exon_variant SKCM-US 3 49736478 49736478 single base substitution C T missense_variant P235L 704C>T SKCM-US 3 49736478 49736478 single base substitution C T missense_variant P89L 266C>T SKCM-US 3 49736478 49736478 single base substitution C T upstream_gene_variant SKCM-US 3 49736512 49736512 single base substitution C T downstream_gene_variant SKCM-US 3 49736512 49736512 single base substitution C T exon_variant SKCM-US 3 49736512 49736512 single base substitution C T synonymous_variant A100A 300C>T SKCM-US 3 49736512 49736512 single base substitution C T synonymous_variant A246A 738C>T SKCM-US 3 49736512 49736512 single base substitution C T upstream_gene_variant SKCM-US 3 49737164 49737164 single base substitution C T downstream_gene_variant SKCM-US 3 49737164 49737164 single base substitution C T exon_variant SKCM-US 3 49737164 49737164 single base substitution C T missense_variant L169F 505C>T SKCM-US 3 49737164 49737164 single base substitution C T missense_variant L315F 943C>T SKCM-US 3 49737164 49737164 single base substitution C T upstream_gene_variant SKCM-US 3 49737767 49737767 single base substitution C T downstream_gene_variant SKCM-US 3 49737767 49737767 single base substitution C T exon_variant SKCM-US 3 49737767 49737767 single base substitution C T synonymous_variant L218L 654C>T SKCM-US 3 49737767 49737767 single base substitution C T synonymous_variant L364L 1092C>T SKCM-US 3 49737767 49737767 single base substitution C T upstream_gene_variant SKCM-US 3 49738092 49738092 single base substitution C T downstream_gene_variant SKCM-US 3 49738092 49738092 single base substitution C T exon_variant SKCM-US 3 49738092 49738092 single base substitution C T synonymous_variant I263I 789C>T SKCM-US 3 49738092 49738092 single base substitution C T synonymous_variant I409I 1227C>T SKCM-US 3 49740122 49740122 single base substitution C T downstream_gene_variant SKCM-US 3 49740122 49740122 single base substitution C T exon_variant SKCM-US 3 49740122 49740122 single base substitution C T synonymous_variant I416I 1248C>T SKCM-US 3 49740122 49740122 single base substitution C T synonymous_variant I562I 1686C>T SKCM-US 3 49740938 49740938 single base substitution C T downstream_gene_variant SKCM-US 3 49740938 49740938 single base substitution C T exon_variant SKCM-US 3 49740938 49740938 single base substitution C T missense_variant S464L 1391C>T SKCM-US 3 49740938 49740938 single base substitution C T missense_variant S610L 1829C>T SKCM-US 3 49742550 49742550 single base substitution C T downstream_gene_variant SKCM-US 3 49742550 49742550 single base substitution C T exon_variant SKCM-US 3 49742550 49742550 single base substitution C T missense_variant P552L 1655C>T SKCM-US 3 49742550 49742550 single base substitution C T missense_variant P698L 2093C>T SKCM-US 3 49743012 49743012 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49743012 49743012 single base substitution C T downstream_gene_variant SKCM-US 3 49743012 49743012 single base substitution C T exon_variant SKCM-US 3 49743012 49743012 single base substitution C T missense_variant P589L 1766C>T SKCM-US 3 49743012 49743012 single base substitution C T missense_variant P735L 2204C>T SKCM-US 3 49743429 49743429 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49743429 49743429 single base substitution C T downstream_gene_variant SKCM-US 3 49743429 49743429 single base substitution C T exon_variant SKCM-US 3 49743429 49743429 single base substitution C T synonymous_variant S627S 1881C>T SKCM-US 3 49743429 49743429 single base substitution C T synonymous_variant S773S 2319C>T SKCM-US 3 49749921 49749921 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49749921 49749921 single base substitution C T exon_variant SKCM-US 3 49749921 49749921 single base substitution C T synonymous_variant L690L 2068C>T SKCM-US 3 49749921 49749921 single base substitution C T synonymous_variant L836L 2506C>T SKCM-US 3 49749921 49749921 single base substitution C T upstream_gene_variant SKCM-US 3 49749975 49749975 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49749975 49749975 single base substitution C T exon_variant SKCM-US 3 49749975 49749975 single base substitution C T missense_variant R708C 2122C>T SKCM-US 3 49749975 49749975 single base substitution C T missense_variant R854C 2560C>T SKCM-US 3 49749975 49749975 single base substitution C T upstream_gene_variant SKCM-US 3 49751367 49751367 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49751367 49751367 single base substitution C T downstream_gene_variant SKCM-US 3 49751367 49751367 single base substitution C T exon_variant SKCM-US 3 49751367 49751367 single base substitution C T synonymous_variant L66L 198C>T SKCM-US 3 49751367 49751367 single base substitution C T synonymous_variant L954L 2862C>T SKCM-US 3 49751367 49751367 single base substitution C T upstream_gene_variant SKCM-US 3 49753064 49753064 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49753064 49753064 single base substitution C T downstream_gene_variant SKCM-US 3 49753064 49753064 single base substitution C T exon_variant SKCM-US 3 49753064 49753064 single base substitution C T missense_variant P1023S 3067C>T SKCM-US 3 49753064 49753064 single base substitution C T missense_variant P135S 403C>T SKCM-US 3 49753064 49753064 single base substitution C T upstream_gene_variant SKCM-US 3 49753392 49753392 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49753392 49753392 single base substitution C T downstream_gene_variant SKCM-US 3 49753392 49753392 single base substitution C T exon_variant SKCM-US 3 49753392 49753392 single base substitution C T synonymous_variant F1096F 3288C>T SKCM-US 3 49753392 49753392 single base substitution C T synonymous_variant F208F 624C>T SKCM-US 3 49753392 49753392 single base substitution C T upstream_gene_variant SKCM-US 3 49753850 49753850 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49753850 49753850 single base substitution C T downstream_gene_variant SKCM-US 3 49753850 49753850 single base substitution C T exon_variant SKCM-US 3 49753850 49753850 single base substitution C T missense_variant P1147L 3440C>T SKCM-US 3 49753850 49753850 single base substitution C T missense_variant P259L 776C>T SKCM-US 3 49753850 49753850 single base substitution C T upstream_gene_variant SKCM-US 3 49755643 49755663 deletion of <=200bp CAGCGGCGGCAGCGGCAGGCA - downstream_gene_variant SKCM-US 3 49755643 49755663 deletion of <=200bp CAGCGGCGGCAGCGGCAGGCA - exon_variant SKCM-US 3 49755643 49755663 deletion of <=200bp CAGCGGCGGCAGCGGCAGGCA - intron_variant SKCM-US 3 49755643 49755663 deletion of <=200bp CAGCGGCGGCAGCGGCAGGCA - upstream_gene_variant SKCM-US 3 49756440 49756440 single base substitution G A downstream_gene_variant SKCM-US 3 49756440 49756440 single base substitution G A intron_variant SKCM-US 3 49756440 49756440 single base substitution G A upstream_gene_variant SKCM-US 3 49756613 49756613 single base substitution C T downstream_gene_variant SKCM-US 3 49756613 49756613 single base substitution C T intron_variant SKCM-US 3 49756613 49756613 single base substitution C T upstream_gene_variant SKCM-US 3 49756665 49756665 single base substitution G A downstream_gene_variant SKCM-US 3 49756665 49756665 single base substitution G A intron_variant SKCM-US 3 49756665 49756665 single base substitution G A upstream_gene_variant SKCM-US 3 49756836 49756836 single base substitution C T downstream_gene_variant SKCM-US 3 49756836 49756836 single base substitution C T intron_variant SKCM-US 3 49756836 49756836 single base substitution C T upstream_gene_variant SKCM-US 3 49759379 49759379 single base substitution G A downstream_gene_variant SKCM-US 3 49759540 49759540 single base substitution G A downstream_gene_variant SKCM-US 3 49759664 49759664 single base substitution C T downstream_gene_variant SKCM-US 3 49760828 49760828 single base substitution C A downstream_gene_variant STAD-US 3 49722070 49722070 single base substitution G A upstream_gene_variant STAD-US 3 49722283 49722283 single base substitution C T upstream_gene_variant STAD-US 3 49722906 49722906 deletion of <=200bp G - upstream_gene_variant STAD-US 3 49723511 49723511 single base substitution G A upstream_gene_variant STAD-US 3 49723549 49723549 single base substitution G A upstream_gene_variant STAD-US 3 49724498 49724498 single base substitution C T upstream_gene_variant STAD-US 3 49724649 49724649 single base substitution A G upstream_gene_variant STAD-US 3 49725025 49725025 single base substitution G A upstream_gene_variant STAD-US 3 49736480 49736480 single base substitution G A downstream_gene_variant STAD-US 3 49736480 49736480 single base substitution G A exon_variant STAD-US 3 49736480 49736480 single base substitution G A missense_variant A236T 706G>A STAD-US 3 49736480 49736480 single base substitution G A missense_variant A90T 268G>A STAD-US 3 49736480 49736480 single base substitution G A upstream_gene_variant STAD-US 3 49737143 49737143 single base substitution C T downstream_gene_variant STAD-US 3 49737143 49737143 single base substitution C T exon_variant STAD-US 3 49737143 49737143 single base substitution C T missense_variant R162W 484C>T STAD-US 3 49737143 49737143 single base substitution C T missense_variant R308W 922C>T STAD-US 3 49737143 49737143 single base substitution C T upstream_gene_variant STAD-US 3 49737706 49737706 single base substitution G A downstream_gene_variant STAD-US 3 49737706 49737706 single base substitution G A exon_variant STAD-US 3 49737706 49737706 single base substitution G A missense_variant G198D 593G>A STAD-US 3 49737706 49737706 single base substitution G A missense_variant G344D 1031G>A STAD-US 3 49737706 49737706 single base substitution G A upstream_gene_variant STAD-US 3 49737739 49737739 single base substitution A C downstream_gene_variant STAD-US 3 49737739 49737739 single base substitution A C exon_variant STAD-US 3 49737739 49737739 single base substitution A C missense_variant Q209P 626A>C STAD-US 3 49737739 49737739 single base substitution A C missense_variant Q355P 1064A>C STAD-US 3 49737739 49737739 single base substitution A C upstream_gene_variant STAD-US 3 49738938 49738938 single base substitution G A downstream_gene_variant STAD-US 3 49738938 49738938 single base substitution G A exon_variant STAD-US 3 49738938 49738938 single base substitution G A missense_variant R285H 854G>A STAD-US 3 49738938 49738938 single base substitution G A missense_variant R431H 1292G>A STAD-US 3 49738978 49738980 deletion of <=200bp GGA - downstream_gene_variant STAD-US 3 49738978 49738980 deletion of <=200bp GGA - exon_variant STAD-US 3 49738978 49738980 deletion of <=200bp GGA - inframe_deletion VE298V STAD-US 3 49738978 49738980 deletion of <=200bp GGA - inframe_deletion VE444V STAD-US 3 49739039 49739039 single base substitution G A downstream_gene_variant STAD-US 3 49739039 49739039 single base substitution G A missense_variant E319K 955G>A STAD-US 3 49739039 49739039 single base substitution G A missense_variant E465K 1393G>A STAD-US 3 49739039 49739039 single base substitution G A splice_region_variant STAD-US 3 49740860 49740860 single base substitution A G downstream_gene_variant STAD-US 3 49740860 49740860 single base substitution A G missense_variant E438G 1313A>G STAD-US 3 49740860 49740860 single base substitution A G missense_variant E584G 1751A>G STAD-US 3 49740860 49740860 single base substitution A G splice_region_variant STAD-US 3 49740928 49740928 single base substitution G T downstream_gene_variant STAD-US 3 49740928 49740928 single base substitution G T exon_variant STAD-US 3 49740928 49740928 single base substitution G T missense_variant G461C 1381G>T STAD-US 3 49740928 49740928 single base substitution G T missense_variant G607C 1819G>T STAD-US 3 49742159 49742159 deletion of <=200bp G - downstream_gene_variant STAD-US 3 49742159 49742159 deletion of <=200bp G - exon_variant STAD-US 3 49742159 49742159 deletion of <=200bp G - frameshift_variant E497 STAD-US 3 49742159 49742159 deletion of <=200bp G - frameshift_variant E643 STAD-US 3 49742418 49742418 single base substitution G A downstream_gene_variant STAD-US 3 49742418 49742418 single base substitution G A exon_variant STAD-US 3 49742418 49742418 single base substitution G A intron_variant STAD-US 3 49742418 49742418 single base substitution G A missense_variant R508H 1523G>A STAD-US 3 49742418 49742418 single base substitution G A missense_variant R654H 1961G>A STAD-US 3 49742418 49742418 single base substitution G A splice_region_variant STAD-US 3 49742583 49742583 single base substitution C T downstream_gene_variant STAD-US 3 49742583 49742583 single base substitution C T exon_variant STAD-US 3 49742583 49742583 single base substitution C T missense_variant T563M 1688C>T STAD-US 3 49742583 49742583 single base substitution C T missense_variant T709M 2126C>T STAD-US 3 49743092 49743092 single base substitution G A 3_prime_UTR_variant STAD-US 3 49743092 49743092 single base substitution G A downstream_gene_variant STAD-US 3 49743092 49743092 single base substitution G A exon_variant STAD-US 3 49743092 49743092 single base substitution G A missense_variant V616I 1846G>A STAD-US 3 49743092 49743092 single base substitution G A missense_variant V762I 2284G>A STAD-US 3 49751243 49751243 single base substitution G A 3_prime_UTR_variant STAD-US 3 49751243 49751243 single base substitution G A downstream_gene_variant STAD-US 3 49751243 49751243 single base substitution G A exon_variant STAD-US 3 49751243 49751243 single base substitution G A intron_variant STAD-US 3 49751243 49751243 single base substitution G A missense_variant R53Q 158G>A STAD-US 3 49751243 49751243 single base substitution G A missense_variant R941Q 2822G>A STAD-US 3 49751243 49751243 single base substitution G A upstream_gene_variant STAD-US 3 49755433 49755433 single base substitution C T downstream_gene_variant STAD-US 3 49755433 49755433 single base substitution C T intron_variant STAD-US 3 49755433 49755433 single base substitution C T upstream_gene_variant STAD-US 3 49755649 49755649 single base substitution C T downstream_gene_variant STAD-US 3 49755649 49755649 single base substitution C T exon_variant STAD-US 3 49755649 49755649 single base substitution C T intron_variant STAD-US 3 49755649 49755649 single base substitution C T upstream_gene_variant STAD-US 3 49755668 49755668 single base substitution G A downstream_gene_variant STAD-US 3 49755668 49755668 single base substitution G A exon_variant STAD-US 3 49755668 49755668 single base substitution G A intron_variant STAD-US 3 49755668 49755668 single base substitution G A upstream_gene_variant STAD-US 3 49755718 49755718 single base substitution C T downstream_gene_variant STAD-US 3 49755718 49755718 single base substitution C T intron_variant STAD-US 3 49755718 49755718 single base substitution C T upstream_gene_variant STAD-US 3 49755859 49755859 single base substitution G A downstream_gene_variant STAD-US 3 49755859 49755859 single base substitution G A exon_variant STAD-US 3 49755859 49755859 single base substitution G A intron_variant STAD-US 3 49755859 49755859 single base substitution G A upstream_gene_variant STAD-US 3 49755895 49755895 single base substitution C T downstream_gene_variant STAD-US 3 49755895 49755895 single base substitution C T exon_variant STAD-US 3 49755895 49755895 single base substitution C T intron_variant STAD-US 3 49755895 49755895 single base substitution C T upstream_gene_variant STAD-US 3 49755971 49755971 single base substitution C T downstream_gene_variant STAD-US 3 49755971 49755971 single base substitution C T exon_variant STAD-US 3 49755971 49755971 single base substitution C T intron_variant STAD-US 3 49755971 49755971 single base substitution C T upstream_gene_variant STAD-US 3 49756171 49756171 single base substitution C T downstream_gene_variant STAD-US 3 49756171 49756171 single base substitution C T intron_variant STAD-US 3 49756171 49756171 single base substitution C T upstream_gene_variant STAD-US 3 49756307 49756307 single base substitution T C downstream_gene_variant STAD-US 3 49756307 49756307 single base substitution T C intron_variant STAD-US 3 49756307 49756307 single base substitution T C upstream_gene_variant STAD-US 3 49756426 49756426 single base substitution G A downstream_gene_variant STAD-US 3 49756426 49756426 single base substitution G A intron_variant STAD-US 3 49756426 49756426 single base substitution G A upstream_gene_variant STAD-US 3 49756465 49756465 single base substitution A G downstream_gene_variant STAD-US 3 49756465 49756465 single base substitution A G intron_variant STAD-US 3 49756465 49756465 single base substitution A G upstream_gene_variant STAD-US 3 49756752 49756752 single base substitution G C downstream_gene_variant STAD-US 3 49756752 49756752 single base substitution G C intron_variant STAD-US 3 49756752 49756752 single base substitution G C upstream_gene_variant STAD-US 3 49757993 49757993 single base substitution C T 3_prime_UTR_variant STAD-US 3 49757993 49757993 single base substitution C T downstream_gene_variant STAD-US 3 49757993 49757993 single base substitution C T exon_variant STAD-US 3 49757993 49757993 single base substitution C T missense_variant R1184C 3550C>T STAD-US 3 49757993 49757993 single base substitution C T missense_variant R296C 886C>T STAD-US 3 49758693 49758693 single base substitution C T 3_prime_UTR_variant STAD-US 3 49758693 49758693 single base substitution C T downstream_gene_variant STAD-US 3 49758693 49758693 single base substitution C T exon_variant STAD-US 3 49758693 49758693 single base substitution C T synonymous_variant D1300D 3900C>T STAD-US 3 49758693 49758693 single base substitution C T synonymous_variant D412D 1236C>T STAD-US 3 49759315 49759315 single base substitution A G downstream_gene_variant STAD-US 3 49759471 49759471 single base substitution C T downstream_gene_variant STAD-US 3 49760036 49760036 single base substitution C T downstream_gene_variant STAD-US 3 49760113 49760113 single base substitution G A downstream_gene_variant STAD-US 3 49760467 49760467 single base substitution C T downstream_gene_variant STAD-US 3 49760738 49760741 deletion of <=200bp GGAA - downstream_gene_variant THCA-SA 3 49725034 49725034 single base substitution T A upstream_gene_variant THCA-SA 3 49725086 49725086 single base substitution G A upstream_gene_variant THCA-SA 3 49726117 49726117 insertion of <=200bp - G upstream_gene_variant THCA-SA 3 49749976 49749976 single base substitution G A 3_prime_UTR_variant THCA-SA 3 49749976 49749976 single base substitution G A exon_variant THCA-SA 3 49749976 49749976 single base substitution G A missense_variant R708H 2123G>A THCA-SA 3 49749976 49749976 single base substitution G A missense_variant R854H 2561G>A THCA-SA 3 49749976 49749976 single base substitution G A upstream_gene_variant THCA-US 3 49724229 49724229 single base substitution G T upstream_gene_variant THCA-US 3 49724384 49724384 single base substitution C G upstream_gene_variant UCEC-US 3 49722069 49722069 single base substitution C T upstream_gene_variant UCEC-US 3 49723304 49723304 single base substitution C A upstream_gene_variant UCEC-US 3 49725085 49725085 single base substitution C T upstream_gene_variant UCEC-US 3 49725221 49725221 single base substitution T G upstream_gene_variant UCEC-US 3 49728901 49728901 single base substitution C A exon_variant UCEC-US 3 49728901 49728901 single base substitution C A intron_variant UCEC-US 3 49728901 49728901 single base substitution C A synonymous_variant I42I 126C>A UCEC-US 3 49735317 49735317 single base substitution G A downstream_gene_variant UCEC-US 3 49735317 49735317 single base substitution G A splice_acceptor_variant UCEC-US 3 49735317 49735317 single base substitution G A upstream_gene_variant UCEC-US 3 49736430 49736430 single base substitution G T downstream_gene_variant UCEC-US 3 49736430 49736430 single base substitution G T exon_variant UCEC-US 3 49736430 49736430 single base substitution G T missense_variant G219V 656G>T UCEC-US 3 49736430 49736430 single base substitution G T missense_variant G73V 218G>T UCEC-US 3 49736430 49736430 single base substitution G T upstream_gene_variant UCEC-US 3 49739802 49739802 single base substitution T C downstream_gene_variant UCEC-US 3 49739802 49739802 single base substitution T C exon_variant UCEC-US 3 49739802 49739802 single base substitution T C synonymous_variant F385F 1155T>C UCEC-US 3 49739802 49739802 single base substitution T C synonymous_variant F531F 1593T>C UCEC-US 3 49739803 49739803 single base substitution C T downstream_gene_variant UCEC-US 3 49739803 49739803 single base substitution C T exon_variant UCEC-US 3 49739803 49739803 single base substitution C T missense_variant R386C 1156C>T UCEC-US 3 49739803 49739803 single base substitution C T missense_variant R532C 1594C>T UCEC-US 3 49740922 49740922 single base substitution C A downstream_gene_variant UCEC-US 3 49740922 49740922 single base substitution C A exon_variant UCEC-US 3 49740922 49740922 single base substitution C A missense_variant L459M 1375C>A UCEC-US 3 49740922 49740922 single base substitution C A missense_variant L605M 1813C>A UCEC-US 3 49742510 49742510 single base substitution C A downstream_gene_variant UCEC-US 3 49742510 49742510 single base substitution C A exon_variant UCEC-US 3 49742510 49742510 single base substitution C A missense_variant L539I 1615C>A UCEC-US 3 49742510 49742510 single base substitution C A missense_variant L685I 2053C>A UCEC-US 3 49742510 49742510 single base substitution C A splice_region_variant UCEC-US 3 49749944 49749944 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49749944 49749944 single base substitution C T exon_variant UCEC-US 3 49749944 49749944 single base substitution C T synonymous_variant R697R 2091C>T UCEC-US 3 49749944 49749944 single base substitution C T synonymous_variant R843R 2529C>T UCEC-US 3 49749944 49749944 single base substitution C T upstream_gene_variant UCEC-US 3 49751230 49751230 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49751230 49751230 single base substitution C T downstream_gene_variant UCEC-US 3 49751230 49751230 single base substitution C T exon_variant UCEC-US 3 49751230 49751230 single base substitution C T intron_variant UCEC-US 3 49751230 49751230 single base substitution C T missense_variant R49W 145C>T UCEC-US 3 49751230 49751230 single base substitution C T missense_variant R937W 2809C>T UCEC-US 3 49751230 49751230 single base substitution C T upstream_gene_variant UCEC-US 3 49751344 49751344 single base substitution C T downstream_gene_variant UCEC-US 3 49751344 49751344 single base substitution C T exon_variant UCEC-US 3 49751344 49751344 single base substitution C T missense_variant R59C 175C>T UCEC-US 3 49751344 49751344 single base substitution C T missense_variant R947C 2839C>T UCEC-US 3 49751344 49751344 single base substitution C T splice_region_variant UCEC-US 3 49751344 49751344 single base substitution C T upstream_gene_variant UCEC-US 3 49753064 49753064 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49753064 49753064 single base substitution C T downstream_gene_variant UCEC-US 3 49753064 49753064 single base substitution C T exon_variant UCEC-US 3 49753064 49753064 single base substitution C T missense_variant P1023S 3067C>T UCEC-US 3 49753064 49753064 single base substitution C T missense_variant P135S 403C>T UCEC-US 3 49753064 49753064 single base substitution C T upstream_gene_variant UCEC-US 3 49753084 49753084 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49753084 49753084 single base substitution C T downstream_gene_variant UCEC-US 3 49753084 49753084 single base substitution C T exon_variant UCEC-US 3 49753084 49753084 single base substitution C T synonymous_variant F1029F 3087C>T UCEC-US 3 49753084 49753084 single base substitution C T synonymous_variant F141F 423C>T UCEC-US 3 49753084 49753084 single base substitution C T upstream_gene_variant UCEC-US 3 49755839 49755839 single base substitution C A downstream_gene_variant UCEC-US 3 49755839 49755839 single base substitution C A exon_variant UCEC-US 3 49755839 49755839 single base substitution C A intron_variant UCEC-US 3 49755839 49755839 single base substitution C A upstream_gene_variant UCEC-US 3 49756356 49756356 single base substitution G A downstream_gene_variant UCEC-US 3 49756356 49756356 single base substitution G A intron_variant UCEC-US 3 49756356 49756356 single base substitution G A upstream_gene_variant UCEC-US 3 49756366 49756366 single base substitution T C downstream_gene_variant UCEC-US 3 49756366 49756366 single base substitution T C intron_variant UCEC-US 3 49756366 49756366 single base substitution T C upstream_gene_variant UCEC-US 3 49756607 49756607 single base substitution C G downstream_gene_variant UCEC-US 3 49756607 49756607 single base substitution C G intron_variant UCEC-US 3 49756607 49756607 single base substitution C G upstream_gene_variant UCEC-US 3 49756614 49756614 single base substitution G A downstream_gene_variant UCEC-US 3 49756614 49756614 single base substitution G A intron_variant UCEC-US 3 49756614 49756614 single base substitution G A upstream_gene_variant UCEC-US 3 49758004 49758004 single base substitution C A 3_prime_UTR_variant UCEC-US 3 49758004 49758004 single base substitution C A downstream_gene_variant UCEC-US 3 49758004 49758004 single base substitution C A exon_variant UCEC-US 3 49758004 49758004 single base substitution C A stop_gained C1187* 3561C>A UCEC-US 3 49758004 49758004 single base substitution C A stop_gained C299* 897C>A UCEC-US 3 49758236 49758236 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49758236 49758236 single base substitution C T downstream_gene_variant UCEC-US 3 49758236 49758236 single base substitution C T exon_variant UCEC-US 3 49758236 49758236 single base substitution C T missense_variant A1216V 3647C>T UCEC-US 3 49758236 49758236 single base substitution C T missense_variant A328V 983C>T UCEC-US 3 49758725 49758725 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49758725 49758725 single base substitution C T downstream_gene_variant UCEC-US 3 49758725 49758725 single base substitution C T exon_variant UCEC-US 3 49758725 49758725 single base substitution C T missense_variant S1311F 3932C>T UCEC-US 3 49758725 49758725 single base substitution C T missense_variant S423F 1268C>T UCEC-US 3 49759299 49759299 single base substitution C A downstream_gene_variant UCEC-US 3 49760073 49760073 single base substitution C T downstream_gene_variant UCEC-US 3 49760467 49760467 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNUH_G25_S1 COSM3683143 c.3414T>G p.P1138P Substitution - coding silent 3:49716176-49716176 + Pat_53_B COSM5864831 c.1649C>T p.P550L Substitution - Missense 3:49702652-49702652 + TCGA-G3-A25W-01 COSM4927351 c.1282G>T p.D428Y Substitution - Missense 3:49701495-49701495 + 3 COSM4333231 c.1691C>A p.A564D Substitution - Missense 3:49702694-49702694 + PCSI_0083_Pa_X COSM3380631 c.3696G>A p.A1232A Substitution - coding silent 3:49720852-49720852 + TCGA-F4-6570-01 COSM1424018 c.3619C>T p.R1207W Substitution - Missense 3:49720629-49720629 + YUMUL COSM5399606 c.3734_3735CC>TT p.S1245F Substitution - Missense 3:49720890-49720891 + PD4874a COSM5787797 c.2509G>A p.D837N Substitution - Missense 3:49712491-49712491 + 1047T COSM4963391 c.2388+5G>C p.? Unknown 3:49706070-49706070 + Pat_59_B COSM5864830 c.397+1G>A p.? Unknown 3:49697940-49697940 + HB3 COSM5346133 c.1428C>T p.T476T Substitution - coding silent 3:49701843-49701843 + TCGA-D1-A167-01 COSM1046257 c.3647C>T p.A1216V Substitution - Missense 3:49720803-49720803 + RKO COSM2850352 c.263G>A p.R88Q Substitution - Missense 3:49697378-49697378 + 385 COSM4426972 c.1610A>G p.E537G Substitution - Missense 3:49702386-49702386 + TCGA-AP-A0LG-01 COSM350893 c.1217G>T p.R406L Substitution - Missense 3:49700649-49700649 + LN229 COSM2850400 c.3267C>G p.I1089M Substitution - Missense 3:49715938-49715938 + TCGA-B5-A11W-01 COSM1046241 c.1593T>C p.F531F Substitution - coding silent 3:49702369-49702369 + TCGA-E2-A1BC-01 COSM446717 c.2123G>C p.R708P Substitution - Missense 3:49705147-49705147 + 3101B7_032_T COSM5040694 c.2872T>A p.Y958N Substitution - Missense 3:49713944-49713944 + CSCC-35-T COSM4450819 c.880-1G>A p.? Unknown 3:49699667-49699667 + EOPC-04_tumor COSM1046247 c.2809C>T p.R937W Substitution - Missense 3:49713797-49713797 + TCGA-CG-5721-01 COSM2850366 c.922C>T p.R308W Substitution - Missense 3:49699710-49699710 + TCGA-BR-6452-01 COSM4118557 c.1031G>A p.G344D Substitution - Missense 3:49700273-49700273 + TCGA-CC-A7II-01 COSM4937524 c.2459G>T p.R820L Substitution - Missense 3:49706861-49706861 + 824_T COSM3945557 c.2986G>A p.D996N Substitution - Missense 3:49714150-49714150 + TCGA-EE-A2MR-06 COSM3595382 c.2560C>T p.R854C Substitution - Missense 3:49712542-49712542 + pfg173T COSM4754860 c.2483C>G p.T828S Substitution - Missense 3:49706885-49706885 + TCGA-B5-A0JY-01 COSM1046238 c.126C>A p.I42I Substitution - coding silent 3:49691468-49691468 + HN_62863 COSM125889 c.1228G>A p.A410T Substitution - Missense 3:49700660-49700660 + CSCC-4-T COSM4517222 c.3003_3004CC>AT p.S1001_L1002>RF Complex - compound substitution 3:49714167-49714168 + TCGA-43-5668-01 COSM731247 c.656G>A p.G219D Substitution - Missense 3:49698997-49698997 + 4537_T COSM348045 c.903G>C p.E301D Substitution - Missense 3:49699691-49699691 + ESO-717 COSM1242782 c.1249T>C p.S417P Substitution - Missense 3:49700681-49700681 + PD3361a COSM30392 c.368C>T p.T123I Substitution - Missense 3:49697910-49697910 + TCGA-GN-A266-06 COSM3595380 c.2319C>T p.S773S Substitution - coding silent 3:49705996-49705996 + ESCC-098T COSM3940571 c.328G>A p.D110N Substitution - Missense 3:49697443-49697443 + PCSI_0083_Pa_P COSM3380631 c.3696G>A p.A1232A Substitution - coding silent 3:49720852-49720852 + 202_T COSM3945556 c.2263G>C p.V755L Substitution - Missense 3:49705638-49705638 + CSCC-55-T COSM4472762 c.1803C>T p.D601D Substitution - coding silent 3:49703479-49703479 + TCGA-AC-A23H-01 COSM3824172 c.1524G>A p.L508L Substitution - coding silent 3:49702111-49702111 + TCGA-HU-8249-01 COSM4118559 c.1292G>A p.R431H Substitution - Missense 3:49701505-49701505 + STC252 COSM2850348 c.34C>T p.R12C Substitution - Missense 3:49691199-49691199 + PTC-70C COSM4158157 c.454T>G p.C152G Substitution - Missense 3:49698108-49698108 + SNU-C4 COSM4653714 c.457A>C p.T153P Substitution - Missense 3:49698111-49698111 + T2940 COSM4721961 c.38A>C p.K13T Substitution - Missense 3:49691203-49691203 + LS411 COSM2850364 c.840C>T p.G280G Substitution - coding silent 3:49699543-49699543 + TCGA-C4-A0F6-01 COSM419941 c.3505G>C p.E1169Q Substitution - Missense 3:49720515-49720515 + BICR_22 COSM4158157 c.454T>G p.C152G Substitution - Missense 3:49698108-49698108 + WA23 COSM238102 c.639-10T>C p.? Unknown 3:49698970-49698970 + 57 COSM5014343 c.3418C>A p.L1140I Substitution - Missense 3:49716395-49716395 + TCGA-EB-A3Y6-01 COSM3595370 c.425C>T p.S142F Substitution - Missense 3:49698079-49698079 + TCGA-AX-A063-01 COSM1046248 c.2839C>T p.R947C Substitution - Missense 3:49713911-49713911 + 721LT COSM4383055 c.1204-1G>T p.? Unknown 3:49700635-49700635 + BCM783T COSM4799464 c.1033A>G p.I345V Substitution - Missense 3:49700275-49700275 + Au10 COSM5598732 c.2670C>T p.L890L Substitution - coding silent 3:49712652-49712652 + CSCC-55-T COSM4543133 c.331G>A p.D111N Substitution - Missense 3:49697446-49697446 + 1_RESISTANT COSM1721339 c.1625delG p.N544fs*18 Deletion - Frameshift 3:49702401-49702401 + TCGA-EP-A2KB-01 COSM4921410 c.515C>T p.A172V Substitution - Missense 3:49698471-49698471 + RMS105_ COSM4986314 c.2561G>A p.R854H Substitution - Missense 3:49712543-49712543 + HCC073T COSM5821870 c.2144G>A p.R715K Substitution - Missense 3:49705168-49705168 + ESCC_142 COSM5643794 c.2895G>T p.Q965H Substitution - Missense 3:49713967-49713967 + PD3995a COSM164036 c.2959C>T p.P987S Substitution - Missense 3:49714123-49714123 + TCGA-D1-A16J-01 COSM1046239 c.343-1G>A p.? Unknown 3:49697884-49697884 + TCGA-BP-5000-01 COSM480239 c.274T>C p.S92P Substitution - Missense 3:49697389-49697389 + TCGA-EI-6882-01 COSM3427712 c.1458C>T p.Y486Y Substitution - coding silent 3:49701873-49701873 + TCGA-CA-6717-01 COSM1424017 c.3596G>A p.G1199D Substitution - Missense 3:49720606-49720606 + HCC066T COSM5821226 c.1618A>T p.S540C Substitution - Missense 3:49702394-49702394 + PCSI_0081_Pa_X COSM3380630 c.867G>T p.E289D Substitution - Missense 3:49699570-49699570 + 35M COSM5582374 c.1385C>T p.S462F Substitution - Missense 3:49701598-49701598 + C113 COSM4441237 c.3047C>T p.A1016V Substitution - Missense 3:49715611-49715611 + TCGA-B5-A0JY-01 COSM1046258 c.3932C>T p.S1311F Substitution - Missense 3:49721292-49721292 + 587222 COSM1223890 c.2877G>T p.E959D Substitution - Missense 3:49713949-49713949 + TCGA-EB-A3XB-01 COSM3595377 c.1829C>T p.S610L Substitution - Missense 3:49703505-49703505 + TCGA-AX-A0J0-01 COSM1046246 c.2529C>T p.R843R Substitution - coding silent 3:49712511-49712511 + BK0042 COSM4187288 c.2123G>A p.R708H Substitution - Missense 3:49705147-49705147 + PCSI_0083_Pa_P_526 COSM3380631 c.3696G>A p.A1232A Substitution - coding silent 3:49720852-49720852 + PCSI_0019_Pa_X COSM3781834 c.1816G>A p.G606R Substitution - Missense 3:49703492-49703492 + T3090 COSM1721339 c.1625delG p.N544fs*18 Deletion - Frameshift 3:49702401-49702401 + TCGA-EB-A5SG-06 COSM3916277 c.943C>T p.L315F Substitution - Missense 3:49699731-49699731 + CHC303T COSM4950453 c.1749delG p.E584fs*44 Deletion - Frameshift 3:49702752-49702752 + TCGA-DR-A0ZM-01 COSM460774 c.2833G>C p.E945Q Substitution - Missense 3:49713821-49713821 + TCGA-EE-A3AA-06 COSM3595372 c.629C>T p.S210F Substitution - Missense 3:49698813-49698813 + TCGA-CA-6717-01 COSM1423996 c.1216C>T p.R406W Substitution - Missense 3:49700648-49700648 + CSCC-20-T COSM4481013 c.2475C>T p.V825V Substitution - coding silent 3:49706877-49706877 + TCGA-FJ-A3Z7-01 COSM3775161 c.1982T>C p.V661A Substitution - Missense 3:49705006-49705006 + HCC14T COSM3746635 c.1278-9A>C p.? Unknown 3:49701482-49701482 + TCGA-76-4929-01 COSM3408748 c.936C>T p.T312T Substitution - coding silent 3:49699724-49699724 + TCGA-BG-A0M4-01 COSM1046243 c.1813C>A p.L605M Substitution - Missense 3:49703489-49703489 + TCGA-G4-6302-01 COSM3696157 c.3241C>A p.L1081M Substitution - Missense 3:49715912-49715912 + RMS110_ COSM4987230 c.2261C>T p.A754V Substitution - Missense 3:49705636-49705636 + TCGA-ER-A193-06 COSM3595384 c.3288C>T p.F1096F Substitution - coding silent 3:49715959-49715959 + 5202_CLM COSM5756306 c.141A>C p.E47D Substitution - Missense 3:49691483-49691483 + TCGA-EE-A29G-06 COSM3595385 c.3440C>T p.P1147L Substitution - Missense 3:49716417-49716417 + S02246 COSM5679078 c.1064A>T p.Q355L Substitution - Missense 3:49700306-49700306 + QC2-32-T2 COSM5653769 c.1111-2A>G p.? Unknown 3:49700470-49700470 + TCGA-BR-7958-01 COSM4118579 c.3550C>T p.R1184C Substitution - Missense 3:49720560-49720560 + pfg008T COSM1642296 c.2729A>G p.D910G Substitution - Missense 3:49713567-49713567 + SNUH_G31_S1 COSM3683143 c.3414T>G p.P1138P Substitution - coding silent 3:49716176-49716176 + CSCC-17-T COSM4474154 c.189C>T p.N63N Substitution - coding silent 3:49697164-49697164 + CHC1192T COSM5348248 c.342+1delG p.? Unknown 3:49697458-49697458 + T22 COSM5344509 c.2040A>T p.R680R Substitution - coding silent 3:49705064-49705064 + TCGA-AP-A0LM-01 COSM1046247 c.2809C>T p.R937W Substitution - Missense 3:49713797-49713797 + ITNET_1047_T COSM4963391 c.2388+5G>C p.? Unknown 3:49706070-49706070 + PD4975a COSM5768607 c.181T>C p.F61L Substitution - Missense 3:49697156-49697156 + TCGA-B5-A11E-01 COSM1046250 c.3087C>T p.F1029F Substitution - coding silent 3:49715651-49715651 + TCGA-AZ-6598-01 COSM1423995 c.886C>T p.R296W Substitution - Missense 3:49699674-49699674 + SNU-175 COSM2850367 c.937G>A p.V313I Substitution - Missense 3:49699725-49699725 + pfg003T COSM1642294 c.35G>A p.R12H Substitution - Missense 3:49691200-49691200 + pfg029T COSM1642295 c.616G>T p.D206Y Substitution - Missense 3:49698800-49698800 + AD68 COSM419943 c.625C>G p.L209V Substitution - Missense 3:49698809-49698809 + M003-PB_Prog COSM1738830 c.2800C>T p.H934Y Substitution - Missense 3:49713788-49713788 + CSCC-27-T COSM4475925 c.2026C>T p.P676S Substitution - Missense 3:49705050-49705050 + TCGA-D3-A2J7-06 COSM3595378 c.2093C>T p.P698L Substitution - Missense 3:49705117-49705117 + SW1417 COSM4441237 c.3047C>T p.A1016V Substitution - Missense 3:49715611-49715611 + DLD1 COSM4625123 c.3428T>C p.V1143A Substitution - Missense 3:49716405-49716405 + T3152 COSM4721964 c.1249T>A p.S417T Substitution - Missense 3:49700681-49700681 + CSCC-60-T COSM4534990 c.2142G>A p.Q714Q Substitution - coding silent 3:49705166-49705166 + TCGA-IZ-A6M8-01 COSM3993156 c.1127A>G p.D376G Substitution - Missense 3:49700488-49700488 + 3_RESISTANT COSM1723689 c.3153C>T p.I1051I Substitution - coding silent 3:49715824-49715824 + HCT15 COSM4625121 c.2087G>T p.R696L Substitution - Missense 3:49705111-49705111 + TCGA-AZ-6598-01 COSM1423997 c.1328G>A p.R443H Substitution - Missense 3:49701541-49701541 + SNUH_G39_S1 COSM3683143 c.3414T>G p.P1138P Substitution - coding silent 3:49716176-49716176 + PTC-10C COSM4158159 c.3881C>G p.T1294S Substitution - Missense 3:49721241-49721241 + CSCC-20-T COSM4483589 c.2715C>T p.A905A Substitution - coding silent 3:49713553-49713553 + LUAD_E00565 COSM389449 c.3834C>G p.I1278M Substitution - Missense 3:49721194-49721194 + TCGA-B5-A11E-01 COSM1046249 c.3067C>T p.P1023S Substitution - Missense 3:49715631-49715631 + ccRCC-106 COSM1663933 c.1292G>C p.R431P Substitution - Missense 3:49701505-49701505 + sysucc-715T COSM5461465 c.3825-6T>A p.? Unknown 3:49721179-49721179 + CSCC-29-T COSM4483358 c.2694C>T p.T898T Substitution - coding silent 3:49713532-49713532 + AOCS-092-1-6 COSM4149961 c.3709G>C p.A1237P Substitution - Missense 3:49720865-49720865 + TCGA-AA-3713-01 COSM1424004 c.2845G>A p.A949T Substitution - Missense 3:49713917-49713917 + 22T COSM108848 c.731C>T p.S244F Substitution - Missense 3:49699072-49699072 + TCGA-B5-A11E-01 COSM1046238 c.126C>A p.I42I Substitution - coding silent 3:49691468-49691468 + Pat_66_A COSM5138710 c.3485G>A p.R1162H Substitution - Missense 3:49716462-49716462 + PD3408a COSM30404 c.3371C>T p.A1124V Substitution - Missense 3:49716133-49716133 + HT29 COSM4638605 c.986G>A p.R329H Substitution - Missense 3:49700228-49700228 + DLD1 COSM4625121 c.2087G>T p.R696L Substitution - Missense 3:49705111-49705111 + T3090 COSM4721965 c.1462C>T p.R488W Substitution - Missense 3:49701877-49701877 + TCGA-AQ-A54N-01 COSM5834699 c.1024delT p.L342fs*40 Deletion - Frameshift 3:49700266-49700266 + TCGA-AO-A0JD-01 COSM446721 c.3520G>A p.V1174M Substitution - Missense 3:49720530-49720530 + SNUH_G21_S1 COSM3683143 c.3414T>G p.P1138P Substitution - coding silent 3:49716176-49716176 + 3_PRE-TREATMENT COSM1723689 c.3153C>T p.I1051I Substitution - coding silent 3:49715824-49715824 + TCGA-F5-6814-01 COSM3427711 c.764G>A p.R255H Substitution - Missense 3:49699105-49699105 + TCGA-E2-A109-01 COSM446722 c.3713C>T p.S1238F Substitution - Missense 3:49720869-49720869 + SW480 COSM2850378 c.1977G>C p.L659L Substitution - coding silent 3:49705001-49705001 + TCGA-EE-A2MC-06 COSM3595381 c.2506C>T p.L836L Substitution - coding silent 3:49712488-49712488 + LUAD-B01811 COSM334543 c.1195G>T p.G399C Substitution - Missense 3:49700556-49700556 + YUMOBER COSM3595377 c.1829C>T p.S610L Substitution - Missense 3:49703505-49703505 + TCGA-AM-5820-01 COSM3696156 c.2130G>A p.L710L Substitution - coding silent 3:49705154-49705154 + Pat_41_B COSM5864832 c.1724C>T p.S575F Substitution - Missense 3:49702727-49702727 + TCGA-B5-A0JY-01 COSM1046242 c.1594C>T p.R532C Substitution - Missense 3:49702370-49702370 + T3225 COSM4721962 c.529C>T p.R177C Substitution - Missense 3:49698485-49698485 + TCGA-BH-A0B6-01 COSM3824171 c.719C>G p.S240C Substitution - Missense 3:49699060-49699060 + TCGA-C5-A1M5-01 COSM4830854 c.3935C>A p.S1312* Substitution - Nonsense 3:49721295-49721295 + TCGA-CM-6162-01 COSM1223892 c.3626G>A p.R1209H Substitution - Missense 3:49720636-49720636 + I2L-P10-Tumor-Organoid COSM5355090 c.1918G>T p.D640Y Substitution - Missense 3:49704715-49704715 + Gp5D COSM2850443 c.3864C>T p.C1288C Substitution - coding silent 3:49721224-49721224 + TCGA-CG-4442-01 COSM4118556 c.706G>A p.A236T Substitution - Missense 3:49699047-49699047 + 587342 COSM1223891 c.3238A>G p.S1080G Substitution - Missense 3:49715909-49715909 + T3 COSM1424005 c.2988C>T p.D996D Substitution - coding silent 3:49714152-49714152 + TCGA-DD-A11D-01 COSM4938089 c.1300G>T p.V434F Substitution - Missense 3:49701513-49701513 + TCGA-DD-A1EK-01 COSM4934368 c.1557+1G>A p.? Unknown 3:49702145-49702145 + PT46 COSM5928523 c.484-6C>T p.? Unknown 3:49698434-49698434 + PAPNNX COSM5004786 c.1487G>A p.R496H Substitution - Missense 3:49701902-49701902 + TCGA-BR-8360-01 COSM4118565 c.2284G>A p.V762I Substitution - Missense 3:49705659-49705659 + CLL103 COSM1291728 c.3813_3814insA p.S1273fs*>43 Insertion - Frameshift 3:49721094-49721095 + TCGA-FW-A3TU-06 COSM3595379 c.2204C>T p.P735L Substitution - Missense 3:49705579-49705579 + TCGA-A6-6137-01 COSM1423999 c.1656G>A p.E552E Substitution - coding silent 3:49702659-49702659 + HX29T COSM3660613 c.3815A>C p.K1272T Substitution - Missense 3:49721096-49721096 + TCGA-HU-A4GQ-01 COSM4118564 c.2126C>T p.T709M Substitution - Missense 3:49705150-49705150 + LP6007544-DNA_A01 COSM4408988 c.2375G>A p.R792Q Substitution - Missense 3:49706052-49706052 + TCGA-D9-A3Z1-06 COSM3595376 c.1686C>T p.I562I Substitution - coding silent 3:49702689-49702689 + PTC-14C COSM4158158 c.3761G>A p.C1254Y Substitution - Missense 3:49721042-49721042 + LUAD-F00057 COSM339460 c.3556A>C p.I1186L Substitution - Missense 3:49720566-49720566 + LUAD-NYU184 COSM370852 c.655G>T p.G219C Substitution - Missense 3:49698996-49698996 + TCGA-06-6701-01 COSM3408747 c.373C>T p.R125C Substitution - Missense 3:49697915-49697915 + TCGA-FW-A3R5-06 COSM3916276 c.738C>T p.A246A Substitution - coding silent 3:49699079-49699079 + 59 COSM5735105 c.2150G>A p.R717H Substitution - Missense 3:49705174-49705174 + TCGA-D3-A5GO-06 COSM3595375 c.1227C>T p.I409I Substitution - coding silent 3:49700659-49700659 + PD4120a COSM164038 c.2424G>A p.Q808Q Substitution - coding silent 3:49706826-49706826 + SNUH_G09_S1 COSM3683143 c.3414T>G p.P1138P Substitution - coding silent 3:49716176-49716176 + TCGA-EE-A3AD-06 COSM3595374 c.1092C>T p.L364L Substitution - coding silent 3:49700334-49700334 + CCK81 COSM2850358 c.573G>A p.A191A Substitution - coding silent 3:49698757-49698757 + YUSCA COSM5399604 c.1581C>T p.F527F Substitution - coding silent 3:49702357-49702357 + TCGA-CA-6717-01 COSM1424006 c.3464T>C p.I1155T Substitution - Missense 3:49716441-49716441 + PTC-28C COSM5446220 c.2472_2473insAG p.V825fs*44 Insertion - Frameshift 3:49706874-49706875 + CSCC-10-T COSM4486339 c.303C>T p.G101G Substitution - coding silent 3:49697418-49697418 + B83-Tumor COSM1753284 c.115C>T p.L39L Substitution - coding silent 3:49691457-49691457 + TCGA-AN-A046-01 COSM3824174 c.3114C>A p.N1038K Substitution - Missense 3:49715678-49715678 + AOCS-092-3-3 COSM4149961 c.3709G>C p.A1237P Substitution - Missense 3:49720865-49720865 + SNUH_G26_S1 COSM3683143 c.3414T>G p.P1138P Substitution - coding silent 3:49716176-49716176 + TCGA-AP-A059-01 COSM1046256 c.3561C>A p.C1187* Substitution - Nonsense 3:49720571-49720571 + SC_9021 COSM5573077 c.3010+1G>C p.? Unknown 3:49714175-49714175 + sysucc-1370T COSM4118579 c.3550C>T p.R1184C Substitution - Missense 3:49720560-49720560 + TCGA-EE-A3J5-06 COSM3595383 c.2862C>T p.L954L Substitution - coding silent 3:49713934-49713934 + Pat_73_A COSM5864829 c.223G>T p.D75Y Substitution - Missense 3:49697198-49697198 + 400 COSM4429457 c.2914C>T p.R972W Substitution - Missense 3:49713986-49713986 + 134427 COSM326377 c.1333G>C p.E445Q Substitution - Missense 3:49701546-49701546 + TCGA-AZ-6601-01 COSM1424000 c.1912A>G p.M638V Substitution - Missense 3:49704709-49704709 + DLD1 COSM4625122 c.2743G>T p.G915C Substitution - Missense 3:49713581-49713581 + TCGA-G3-A25S-01 COSM4926839 c.3384G>C p.L1128L Substitution - coding silent 3:49716146-49716146 + HCC90 COSM1617764 c.1291C>T p.R431C Substitution - Missense 3:49701504-49701504 + TCGA-CM-4743-01 COSM1424003 c.2840G>A p.R947H Substitution - Missense 3:49713912-49713912 + CSCC-27-T COSM4473060 c.1825C>T p.L609F Substitution - Missense 3:49703501-49703501 + NCI-H1770 COSM23478 c.2388G>A p.R796R Substitution - coding silent 3:49706065-49706065 + LUAD-YINHD COSM350893 c.1217G>T p.R406L Substitution - Missense 3:49700649-49700649 + PD2140a COSM28421 c.1064_1065delAG p.Q355fs*60 Deletion - Frameshift 3:49700306-49700307 + BCM783T COSM4799464 c.1033A>G p.I345V Substitution - Missense 3:49700275-49700275 + TCGA-B0-4691-01 COSM3365226 c.1080G>T p.Q360H Substitution - Missense 3:49700322-49700322 + CHC303T COSM5348249 c.1750+1delG p.? Unknown 3:49702754-49702754 + HCT116 COSM2850386 c.2557G>A p.D853N Substitution - Missense 3:49712539-49712539 + T368 COSM4721967 c.2292G>A p.Q764Q Substitution - coding silent 3:49705667-49705667 + TCGA-AP-A0LM-01 COSM1046240 c.656G>T p.G219V Substitution - Missense 3:49698997-49698997 + CRC-03T COSM5451741 c.304T>A p.F102I Substitution - Missense 3:49697419-49697419 + TCGA-CD-A4MG-01 COSM4118580 c.3900C>T p.D1300D Substitution - coding silent 3:49721260-49721260 + pfg043T COSM4754859 c.424T>A p.S142T Substitution - Missense 3:49698078-49698078 + TCGA-BR-6452-01 COSM4118558 c.1064A>C p.Q355P Substitution - Missense 3:49700306-49700306 + LUAD-VUMN6 COSM348045 c.903G>C p.E301D Substitution - Missense 3:49699691-49699691 + YURAY COSM5399605 c.2580C>T p.A860A Substitution - coding silent 3:49712562-49712562 + PT21_2 COSM5901266 c.398-4C>T p.? Unknown 3:49698048-49698048 + TCGA-AA-A010-01 COSM284613 c.2634G>T p.K878N Substitution - Missense 3:49712616-49712616 + PT46 COSM5928524 c.484-5C>T p.? Unknown 3:49698435-49698435 + CSCC-11-T COSM4527270 c.1451G>A p.R484Q Substitution - Missense 3:49701866-49701866 + TCGA-AO-A03M-01 COSM3824175 c.3233C>G p.S1078W Substitution - Missense 3:49715904-49715904 + PD4203a COSM164037 c.1628G>T p.G543V Substitution - Missense 3:49702404-49702404 + CSCC-7-T COSM4540532 c.2856G>A p.R952R Substitution - coding silent 3:49713928-49713928 + PCSI_0019_Pa_P COSM3781834 c.1816G>A p.G606R Substitution - Missense 3:49703492-49703492 + PTC-7C COSM1424005 c.2988C>T p.D996D Substitution - coding silent 3:49714152-49714152 + T3225 COSM4721966 c.1614C>T p.N538N Substitution - coding silent 3:49702390-49702390 + TCGA-D7-A4YX-01 COSM4118560 c.1393G>A p.E465K Substitution - Missense 3:49701606-49701606 + TCGA-CG-4306-01 COSM4118563 c.1961G>A p.R654H Substitution - Missense 3:49704985-49704985 + TCGA-18-3409-01 COSM731245 c.3123C>T p.F1041F Substitution - coding silent 3:49715687-49715687 + SCC-9 COSM4158157 c.454T>G p.C152G Substitution - Missense 3:49698108-49698108 + TCGA-FP-A4BE-01 COSM4118566 c.2822G>A p.R941Q Substitution - Missense 3:49713810-49713810 + TCGA-DS-A1OD-01 COSM1294104 c.2565_2566AG>CT p.G856W Substitution - Missense 3:49712547-49712548 + SNUH_G19_S1 COSM3683143 c.3414T>G p.P1138P Substitution - coding silent 3:49716176-49716176 + ESCC_41 COSM5649705 c.1959G>A p.Q653Q Substitution - coding silent 3:49704756-49704756 + TARGET-30-PASXGP COSM1287649 c.2997G>T p.L999F Substitution - Missense 3:49714161-49714161 + sysucc-783T COSM5484631 c.2653C>T p.H885Y Substitution - Missense 3:49712635-49712635 + TCGA-59-2363-01 COSM72453 c.2969T>A p.L990Q Substitution - Missense 3:49714133-49714133 + SNUH_G10_S1 COSM4002726 c.1299C>T p.V433V Substitution - coding silent 3:49701512-49701512 + sysucc-1173T COSM5459685 c.3248G>A p.R1083H Substitution - Missense 3:49715919-49715919 + TCGA-B5-A11O-01 COSM1046245 c.2312G>A p.G771D Substitution - Missense 3:49705989-49705989 + VACO10 COSM4656969 c.887G>A p.R296Q Substitution - Missense 3:49699675-49699675 + PCSI_0019_Pa_P_526 COSM3781834 c.1816G>A p.G606R Substitution - Missense 3:49703492-49703492 + SW48 COSM4656393 c.861T>C p.S287S Substitution - coding silent 3:49699564-49699564 + tumor_4144951 COSM5948809 c.821G>A p.R274Q Substitution - Missense 3:49699524-49699524 + TCGA-AG-A002-01 COSM263365 c.1075C>T p.H359Y Substitution - Missense 3:49700317-49700317 + TCGA-BR-6452-01 COSM4118561 c.1751A>G p.E584G Substitution - Missense 3:49703427-49703427 + TCGA-51-4080-01 COSM731246 c.1948G>T p.A650S Substitution - Missense 3:49704745-49704745 + pfg008T COSM1642296 c.2729A>G p.D910G Substitution - Missense 3:49713567-49713567 + tumor_4112447 COSM5948413 c.1678C>T p.R560W Substitution - Missense 3:49702681-49702681 + TCGA-CA-6717-01 COSM1424020 c.3889T>C p.S1297P Substitution - Missense 3:49721249-49721249 + ESCC_51 COSM1223892 c.3626G>A p.R1209H Substitution - Missense 3:49720636-49720636 + TCGA-AO-A0J3-01 COSM5208723 c.582delG p.D196fs*3 Deletion - Frameshift 3:49698766-49698766 + T2949 COSM4721968 c.3096C>T p.S1032S Substitution - coding silent 3:49715660-49715660 + 587316 COSM1223889 c.1886A>G p.D629G Substitution - Missense 3:49704683-49704683 + PT49 COSM5934814 c.2401C>T p.L801F Substitution - Missense 3:49706803-49706803 + 587376 COSM1223892 c.3626G>A p.R1209H Substitution - Missense 3:49720636-49720636 + TCGA-BR-8059-01 COSM4118562 c.1819G>T p.G607C Substitution - Missense 3:49703495-49703495 + T3080 COSM584148 c.2530G>A p.V844I Substitution - Missense 3:49712512-49712512 + HCC90T COSM1617764 c.1291C>T p.R431C Substitution - Missense 3:49701504-49701504 + 8069072 COSM4781523 c.2749+3G>A p.? Unknown 3:49713590-49713590 + 4_RESISTANT COSM1724633 c.922_923insG p.Q310fs*106 Insertion - Frameshift 3:49699710-49699711 + TCGA-GN-A266-06 COSM3595371 c.491T>C p.V164A Substitution - Missense 3:49698447-49698447 + TCGA-85-6561-01 COSM731244 c.3921G>T p.T1307T Substitution - coding silent 3:49721281-49721281 + SW620 COSM2850378 c.1977G>C p.L659L Substitution - coding silent 3:49705001-49705001 + HCC1599 COSM50250 c.3518C>T p.S1173L Substitution - Missense 3:49720528-49720528 + LUAD-E01014 COSM404958 c.118delA p.N40fs*20 Deletion - Frameshift 3:49691460-49691460 + TCGA-D9-A6EC-06 COSM4402031 c.64G>A p.E22K Substitution - Missense 3:49691229-49691229 + TCGA-BL-A0C8-01 COSM419943 c.625C>G p.L209V Substitution - Missense 3:49698809-49698809 + TCGA-AP-A059-01 COSM1046244 c.2053C>A p.L685I Substitution - Missense 3:49705077-49705077 + T578 COSM4721963 c.918G>A p.R306R Substitution - coding silent 3:49699706-49699706 + TCGA-B6-A0IC-01 COSM446718 c.2610C>A p.A870A Substitution - coding silent 3:49712592-49712592 + TCGA-CA-6718-01 COSM1423994 c.835C>T p.L279L Substitution - coding silent 3:49699538-49699538 + pfg122T COSM1424003 c.2840G>A p.R947H Substitution - Missense 3:49713912-49713912 + Gp2D COSM2850443 c.3864C>T p.C1288C Substitution - coding silent 3:49721224-49721224 + 8031556 COSM3392461 c.3572G>A p.G1191E Substitution - Missense 3:49720582-49720582 + TCGA-EE-A29D-06 COSM3595373 c.704C>T p.P235L Substitution - Missense 3:49699045-49699045 + B83 COSM1753284 c.115C>T p.L39L Substitution - coding silent 3:49691457-49691457 + TCGA-EW-A3U0-01 COSM3824173 c.1879G>T p.V627L Substitution - Missense 3:49704676-49704676 + TCGA-BF-A1PV-01 COSM1046249 c.3067C>T p.P1023S Substitution - Missense 3:49715631-49715631 + TCGA-A8-A0A6-01 COSM3824170 c.367A>C p.T123P Substitution - Missense 3:49697909-49697909 + PT33 COSM5908331 c.398-8C>A p.? Unknown 3:49698044-49698044 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.553723 3p24.3 614472

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.S1273Vfs*101 c.3815dupA 3 49758528 CLL A G Missense p.D910G c.2729A>G 3 49751000 STAD A G Missense p.M638V c.1912A>G 3 49742142 HNSC - A Nonsense p.Y1258*fs*1 c.3773dupA 3 49758487 HNSC A T Missense p.Q832L c.2495A>T 3 49744330 LUAD C A Missense p.L605M c.1813C>A 3 49740922 UCEC C A Synonymous p.A870A c.2610C>A 3 49750025 BRCA C A Synonymous p.L633L c.1899C>A 3 49742129 COREAD CC TT Missense p.L1097F c.3288_3289delinsTT 3 49753392 CM CC TT Missense p.P1147L c.3440_3441delinsTT 3 49753850 CM CC TT Missense p.P734F c.2200_2201delinsTT 3 49743008 CM C G IntronicSNV . c.2838-23C>G 3 49751320 HC C G Missense p.L209V c.625C>G 3 49736242 BLCA C G Missense p.L766V c.2296C>G 3 49743104 CM C G Missense p.Q1240E c.3718C>G 3 49758307 CM C T IntronicSNV . c.2304+123C>T 3 49743235 CM C T IntronicSNV . c.3011-8C>T 3 49753000 CM C T Missense p.L1018F c.3052C>T 3 49753049 CM C T Missense p.P1023S c.3067C>T 3 49753064 CM C T Missense p.P1147L c.3440C>T 3 49753850 CM C T Missense p.P664S c.1990C>T 3 49742447 CM C T Missense p.P698L c.2093C>T 3 49742550 CM C T Missense p.P735S c.2203C>T 3 49743011 CM C T Missense p.P987S c.2959C>T 3 49751556 BRCA C T Missense p.R125C c.373C>T 3 49735348 GBM C T Missense p.R947C c.2839C>T 3 49751344 UCEC C T Missense p.S1238F c.3713C>T 3 49758302 BRCA C T Missense p.S210F c.629C>T 3 49736246 CM C T Synonymous p.F1096F c.3288C>T 3 49753392 CM C T Synonymous p.H611H c.1833C>T 3 49740942 CM C T Synonymous p.I411I c.1233C>T 3 49738098 CM C T Synonymous p.L364L c.1092C>T 3 49737767 CM C T Synonymous p.L412L c.1234C>T 3 49738099 HNSC C T Synonymous p.L836L c.2506C>T 3 49749921 CM C T Synonymous p.L954L c.2862C>T 3 49751367 CM C T Synonymous p.N1120N c.3360C>T 3 49753555 CM C T Synonymous p.T312T c.936C>T 3 49737157 GBM G A IntronicSNV . c.1110+3G>A 3 49737788 CM G A Missense p.A410T c.1228G>A 3 49738093 HNSC G A Missense p.E223K c.667G>A 3 49736441 LUAD G A Missense p.G219D c.656G>A 3 49736430 LUSC G A Missense p.R12H c.35G>A 3 49728633 STAD G A Missense p.R654H c.1961G>A 3 49742418 STAD G A Missense p.R820H c.2459G>A 3 49744294 HNSC G A Missense p.V1174M c.3520G>A 3 49757963 BRCA G A Missense p.V844I c.2530G>A 3 49749945 LUAD G A SpliceAcceptorSNV . c.343-1G>A 3 49735317 UCEC G A Synonymous p.G114G c.342G>A 3 49734890 CM G A Synonymous p.Q808Q c.2424G>A 3 49744259 BRCA G C Missense p.E1169Q c.3505G>C 3 49757948 BLCA G C Missense p.E445Q c.1333G>C 3 49738979 SCLC G C Missense p.R708P c.2123G>C 3 49742580 BRCA G C Missense p.W1301S c.3902G>C 3 49758695 CM G T Missense p.A650S c.1948G>T 3 49742178 LUSC G T Missense p.D206Y c.616G>T 3 49736233 STAD G T Missense p.G150C c.448G>T 3 49735535 LUAD G T Missense p.G543V c.1628G>T 3 49739837 BRCA G T Missense p.L999F c.2997G>T 3 49751594 NB G T Missense p.Q360H c.1080G>T 3 49737755 RCCC G T Missense p.R566L c.1697G>T 3 49740133 CM T A Missense p.L990Q c.2969T>A 3 49751566 OV T C Missense p.F435S c.1304T>C 3 49738950 CM T C Missense p.S92P c.274T>C 3 49734822 RCCC T C Missense p.V914A c.2741T>C 3 49751012 BRCA T C Synonymous p.F531F c.1593T>C 3 49739802 UCEC T G SpliceDonorSNV . c.984+2T>G 3 49737207 CM