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 4 39077763 39077763 + Missense_Mutation SNP C C T TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr4:39077763C>T c.700C>T c.(700-702)Cac>Tac p.H234Y BLCA 4 39082781 39082781 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr4:39082781G>A c.763G>A c.(763-765)Gag>Aag p.E255K BLCA 4 39083642 39083642 + Nonsense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr4:39083642C>T c.901C>T c.(901-903)Cag>Tag p.Q301* BLCA 4 39116795 39116795 + Missense_Mutation SNP G G A TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr4:39116795G>A c.2056G>A c.(2056-2058)Gac>Aac p.D686N BLCA 4 39116803 39116803 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr4:39116803G>A c.2064G>A c.(2062-2064)tgG>tgA p.W688* BRCA 4 39083600 39083600 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:39083600G>T c.859G>T c.(859-861)Gaa>Taa p.E287* BRCA 4 39104910 39104910 + Missense_Mutation SNP C C A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 g.chr4:39104910C>A c.1442C>A c.(1441-1443)gCa>gAa p.A481E BRCA 4 39114838 39114838 + Silent SNP A A G TCGA-D8-A27T-01A-11D-A16D-09 TCGA-D8-A27T-10A-01D-A16D-09 g.chr4:39114838A>G c.2025A>G c.(2023-2025)tcA>tcG p.S675S CESC 4 39077739 39077739 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr4:39077739G>A c.676G>A c.(676-678)Gct>Act p.A226T CESC 4 39088213 39088213 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr4:39088213G>A c.1117G>A c.(1117-1119)Gat>Aat p.D373N CESC 4 39104955 39104955 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr4:39104955C>T c.1487C>T c.(1486-1488)cCa>cTa p.P496L COAD 4 39064252 39064252 + Missense_Mutation SNP G G A TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr4:39064252G>A c.118G>A c.(118-120)Gat>Aat p.D40N COAD 4 39064613 39064613 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr4:39064613G>A c.479G>A c.(478-480)gGc>gAc p.G160D COAD 4 39064633 39064633 + Nonsense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:39064633G>T c.499G>T c.(499-501)Gaa>Taa p.E167* COAD 4 39077636 39077636 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:39077636T>C c.573T>C c.(571-573)tgT>tgC p.C191C COAD 4 39077666 39077666 + Missense_Mutation SNP T T G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:39077666T>G c.603T>G c.(601-603)aaT>aaG p.N201K COAD 4 39077685 39077685 + Frame_Shift_Del DEL A A - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr4:39077685delA c.622delA c.(622-624)aaafs p.K209fs COAD 4 39083717 39083717 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:39083717C>T c.976C>T c.(976-978)Cgt>Tgt p.R326C COAD 4 39083717 39083717 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:39083717C>T c.976C>T c.(976-978)Cgt>Tgt p.R326C COAD 4 39083717 39083717 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:39083717C>T c.976C>T c.(976-978)Cgt>Tgt p.R326C COAD 4 39088292 39088292 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr4:39088292G>A c.1196G>A c.(1195-1197)cGg>cAg p.R399Q COAD 4 39098318 39098318 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:39098318G>A c.1258G>A c.(1258-1260)Gca>Aca p.A420T COAD 4 39098345 39098345 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:39098345C>T c.1285C>T c.(1285-1287)Cgg>Tgg p.R429W COAD 4 39098352 39098352 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:39098352A>G c.1292A>G c.(1291-1293)gAt>gGt p.D431G COAD 4 39098386 39098386 + Missense_Mutation SNP G G T TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr4:39098386G>T c.1326G>T c.(1324-1326)atG>atT p.M442I COAD 4 39098396 39098396 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:39098396T>G c.1336T>G c.(1336-1338)Tta>Gta p.L446V COAD 4 39109339 39109339 + Missense_Mutation SNP T T C TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr4:39109339T>C c.1814T>C c.(1813-1815)gTa>gCa p.V605A COAD 4 39114642 39114642 + Frame_Shift_Del DEL T T - TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:39114642delT c.1829delT c.(1828-1830)cttfs p.L610fs COAD 4 39114766 39114766 + Silent SNP G G A TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr4:39114766G>A c.1953G>A c.(1951-1953)acG>acA p.T651T COAD 4 39116842 39116842 + Frame_Shift_Del DEL G G - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:39116842delG c.2103delG c.(2101-2103)gtgfs p.V701fs COAD 4 39116878 39116879 + Frame_Shift_Ins INS - - G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:39116878_39116879insG c.2139_2140insG c.(2140-2142)gggfs p.G714fs COADREAD 4 39064252 39064252 + Missense_Mutation SNP G G A TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr4:39064252G>A c.118G>A c.(118-120)Gat>Aat p.D40N COADREAD 4 39064478 39064478 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:39064478G>A c.344G>A c.(343-345)cGa>cAa p.R115Q COADREAD 4 39064613 39064613 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr4:39064613G>A c.479G>A c.(478-480)gGc>gAc p.G160D COADREAD 4 39064633 39064633 + Nonsense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:39064633G>T c.499G>T c.(499-501)Gaa>Taa p.E167* COADREAD 4 39077636 39077636 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:39077636T>C c.573T>C c.(571-573)tgT>tgC p.C191C COADREAD 4 39077652 39077652 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:39077652T>C c.589T>C c.(589-591)Ttc>Ctc p.F197L COADREAD 4 39077666 39077666 + Missense_Mutation SNP T T G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:39077666T>G c.603T>G c.(601-603)aaT>aaG p.N201K COADREAD 4 39077685 39077685 + Frame_Shift_Del DEL A A - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr4:39077685delA c.622delA c.(622-624)aaafs p.K209fs COADREAD 4 39083717 39083717 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:39083717C>T c.976C>T c.(976-978)Cgt>Tgt p.R326C COADREAD 4 39083717 39083717 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:39083717C>T c.976C>T c.(976-978)Cgt>Tgt p.R326C COADREAD 4 39083717 39083717 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:39083717C>T c.976C>T c.(976-978)Cgt>Tgt p.R326C COADREAD 4 39088292 39088292 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr4:39088292G>A c.1196G>A c.(1195-1197)cGg>cAg p.R399Q COADREAD 4 39088307 39088307 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:39088307A>C c.1211A>C c.(1210-1212)aAa>aCa p.K404T COADREAD 4 39098318 39098318 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:39098318G>A c.1258G>A c.(1258-1260)Gca>Aca p.A420T COADREAD 4 39098345 39098345 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:39098345C>T c.1285C>T c.(1285-1287)Cgg>Tgg p.R429W COADREAD 4 39098352 39098352 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:39098352A>G c.1292A>G c.(1291-1293)gAt>gGt p.D431G COADREAD 4 39098386 39098386 + Missense_Mutation SNP G G T TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr4:39098386G>T c.1326G>T c.(1324-1326)atG>atT p.M442I COADREAD 4 39098396 39098396 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:39098396T>G c.1336T>G c.(1336-1338)Tta>Gta p.L446V COADREAD 4 39098493 39098493 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr4:39098493C>T c.1433C>T c.(1432-1434)aCa>aTa p.T478I COADREAD 4 39109339 39109339 + Missense_Mutation SNP T T C TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr4:39109339T>C c.1814T>C c.(1813-1815)gTa>gCa p.V605A COADREAD 4 39114642 39114642 + Frame_Shift_Del DEL T T - TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:39114642delT c.1829delT c.(1828-1830)cttfs p.L610fs COADREAD 4 39114766 39114766 + Silent SNP G G A TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr4:39114766G>A c.1953G>A c.(1951-1953)acG>acA p.T651T COADREAD 4 39116842 39116842 + Frame_Shift_Del DEL G G - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:39116842delG c.2103delG c.(2101-2103)gtgfs p.V701fs COADREAD 4 39116878 39116879 + Frame_Shift_Ins INS - - G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:39116878_39116879insG c.2139_2140insG c.(2140-2142)gggfs p.G714fs GBM 4 39116788 39116788 + Silent SNP C C G TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 g.chr4:39116788C>G c.2049C>G c.(2047-2049)ccC>ccG p.P683P GBM 4 39116882 39116882 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 g.chr4:39116882G>A c.2143G>A c.(2143-2145)Ggg>Agg p.G715R GBMLGG 4 39088270 39088270 + Missense_Mutation SNP C C T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 g.chr4:39088270C>T c.1174C>T c.(1174-1176)Cgt>Tgt p.R392C GBMLGG 4 39116788 39116788 + Silent SNP C C G TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 g.chr4:39116788C>G c.2049C>G c.(2047-2049)ccC>ccG p.P683P GBMLGG 4 39116882 39116882 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 g.chr4:39116882G>A c.2143G>A c.(2143-2145)Ggg>Agg p.G715R HNSC 4 39105062 39105062 + Missense_Mutation SNP G G C TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr4:39105062G>C c.1594G>C c.(1594-1596)Gag>Cag p.E532Q HNSC 4 39122661 39122661 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 g.chr4:39122661C>G c.2243C>G c.(2242-2244)gCt>gGt p.A748G KIPAN 4 39083717 39083717 + Missense_Mutation SNP C C G TCGA-CZ-4863-01A-01D-1501-10 TCGA-CZ-4863-11A-01D-1501-10 g.chr4:39083717C>G c.976C>G c.(976-978)Cgt>Ggt p.R326G KIPAN 4 39116919 39116919 + Missense_Mutation SNP C C T TCGA-B0-4837-01A-01D-1373-10 TCGA-B0-4837-11A-01D-1373-10 g.chr4:39116919C>T c.2180C>T c.(2179-2181)gCt>gTt p.A727V KIRC 4 39083717 39083717 + Missense_Mutation SNP C C G TCGA-CZ-4863-01A-01D-1501-10 TCGA-CZ-4863-11A-01D-1501-10 g.chr4:39083717C>G c.976C>G c.(976-978)Cgt>Ggt p.R326G KIRC 4 39116919 39116919 + Missense_Mutation SNP C C T TCGA-B0-4837-01A-01D-1373-10 TCGA-B0-4837-11A-01D-1373-10 g.chr4:39116919C>T c.2180C>T c.(2179-2181)gCt>gTt p.A727V LAML 4 39114766 39114766 + Silent SNP G G A TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 g.chr4:39114766G>A c.1953G>A c.(1951-1953)acG>acA p.T651T LGG 4 39088270 39088270 + Missense_Mutation SNP C C T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 g.chr4:39088270C>T c.1174C>T c.(1174-1176)Cgt>Tgt p.R392C LIHC 4 39064232 39064232 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr4:39064232delT c.98delT c.(97-99)cttfs p.L33fs LUAD 4 39064576 39064576 + Missense_Mutation SNP G G C TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr4:39064576G>C c.442G>C c.(442-444)Ggt>Cgt p.G148R LUAD 4 39077583 39077583 + Splice_Site SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr4:39077583A>G c.e2-1 LUAD 4 39077641 39077641 + Nonsense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr4:39077641C>G c.578C>G c.(577-579)tCa>tGa p.S193* LUAD 4 39077728 39077728 + Missense_Mutation SNP T T C TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 g.chr4:39077728T>C c.665T>C c.(664-666)gTa>gCa p.V222A LUAD 4 39082722 39082722 + Splice_Site SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr4:39082722G>C c.e3-1 LUAD 4 39098377 39098377 + Missense_Mutation SNP G G T TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr4:39098377G>T c.1317G>T c.(1315-1317)atG>atT p.M439I LUAD 4 39105076 39105076 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr4:39105076C>T c.1608C>T c.(1606-1608)ccC>ccT p.P536P LUAD 4 39105095 39105095 + Missense_Mutation SNP G G T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr4:39105095G>T c.1627G>T c.(1627-1629)Gtg>Ttg p.V543L LUAD 4 39105132 39105132 + Splice_Site SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr4:39105132G>T c.e7+1 LUAD 4 39109240 39109240 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr4:39109240G>T c.1715G>T c.(1714-1716)tGg>tTg p.W572L LUAD 4 39109252 39109252 + Missense_Mutation SNP A A G TCGA-86-7711-01A-11D-2063-08 TCGA-86-7711-10A-01D-2063-08 g.chr4:39109252A>G c.1727A>G c.(1726-1728)aAc>aGc p.N576S LUAD 4 39109275 39109275 + Missense_Mutation SNP C C G TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chr4:39109275C>G c.1750C>G c.(1750-1752)Cag>Gag p.Q584E LUAD 4 39109275 39109275 + Missense_Mutation SNP C C G TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr4:39109275C>G c.1750C>G c.(1750-1752)Cag>Gag p.Q584E LUAD 4 39109334 39109334 + Frame_Shift_Del DEL G G - TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr4:39109334delG c.1809delG c.(1807-1809)gtgfs p.V603fs LUAD 4 39116892 39116892 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr4:39116892G>T c.2153G>T c.(2152-2154)gGa>gTa p.G718V LUSC 4 39064185 39064185 + Silent SNP A A G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr4:39064185A>G c.51A>G c.(49-51)gcA>gcG p.A17A LUSC 4 39082828 39082828 + Silent SNP G G A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr4:39082828G>A c.810G>A c.(808-810)tcG>tcA p.S270S LUSC 4 39083642 39083642 + Nonsense_Mutation SNP C C T TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr4:39083642C>T c.901C>T c.(901-903)Cag>Tag p.Q301* LUSC 4 39122658 39122658 + Missense_Mutation SNP G G A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr4:39122658G>A c.2240G>A c.(2239-2241)gGa>gAa p.G747E OV 4 39114765 39114765 + Missense_Mutation SNP C C T TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 g.chr4:39114765C>T c.1952C>T c.(1951-1953)aCg>aTg p.T651M PAAD 4 39064285 39064285 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr4:39064285C>A c.151C>A c.(151-153)Cgt>Agt p.R51S PAAD 4 39077672 39077672 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr4:39077672C>A c.609C>A c.(607-609)gcC>gcA p.A203A PAAD 4 39088270 39088270 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 g.chr4:39088270C>T c.1174C>T c.(1174-1176)Cgt>Tgt p.R392C PRAD 4 39064620 39064620 + Missense_Mutation SNP T T G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 g.chr4:39064620T>G c.486T>G c.(484-486)agT>agG p.S162R READ 4 39064478 39064478 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:39064478G>A c.344G>A c.(343-345)cGa>cAa p.R115Q READ 4 39077652 39077652 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:39077652T>C c.589T>C c.(589-591)Ttc>Ctc p.F197L READ 4 39088307 39088307 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:39088307A>C c.1211A>C c.(1210-1212)aAa>aCa p.K404T READ 4 39098493 39098493 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr4:39098493C>T c.1433C>T c.(1432-1434)aCa>aTa p.T478I SARC 4 39116813 39116813 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr4:39116813G>A c.2074G>A c.(2074-2076)Gca>Aca p.A692T SKCM 4 39064637 39064637 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr4:39064637C>T c.503C>T c.(502-504)tCt>tTt p.S168F SKCM 4 39077585 39077585 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr4:39077585G>A c.522G>A c.(520-522)agG>agA p.R174R SKCM 4 39082836 39082836 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:39082836C>T c.818C>T c.(817-819)tCc>tTc p.S273F SKCM 4 39083653 39083653 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr4:39083653G>A c.912G>A c.(910-912)caG>caA p.Q304Q SKCM 4 39083717 39083717 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:39083717C>T c.976C>T c.(976-978)Cgt>Tgt p.R326C SKCM 4 39088189 39088189 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr4:39088189G>A c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K SKCM 4 39104936 39104936 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr4:39104936C>T c.1468C>T c.(1468-1470)Cgt>Tgt p.R490C SKCM 4 39114659 39114659 + Missense_Mutation SNP C C T TCGA-ER-A195-06A-11D-A196-08 TCGA-ER-A195-10A-01D-A198-08 g.chr4:39114659C>T c.1846C>T c.(1846-1848)Cgt>Tgt p.R616C

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 4 39082796 39082796 single base substitution G A 3_prime_UTR_variant BLCA-CN 4 39082796 39082796 single base substitution G A missense_variant E199K 595G>A BLCA-CN 4 39082796 39082796 single base substitution G A missense_variant E214K 640G>A BLCA-CN 4 39082796 39082796 single base substitution G A missense_variant E260K 778G>A BLCA-CN 4 39082796 39082796 single base substitution G A missense_variant E73K 217G>A BLCA-CN 4 39088133 39088133 single base substitution A T splice_acceptor_variant BLCA-US 4 39116803 39116803 single base substitution G A stop_gained W199* 597G>A BLCA-US 4 39116803 39116803 single base substitution G A stop_gained W501* 1503G>A BLCA-US 4 39116803 39116803 single base substitution G A stop_gained W627* 1881G>A BLCA-US 4 39116803 39116803 single base substitution G A stop_gained W642* 1926G>A BLCA-US 4 39116803 39116803 single base substitution G A stop_gained W688* 2064G>A BOCA-FR 4 39064798 39064798 single base substitution G A intron_variant BRCA-EU 4 39045518 39045518 deletion of <=200bp G - upstream_gene_variant BRCA-EU 4 39046159 39046159 single base substitution A G upstream_gene_variant BRCA-EU 4 39046930 39046930 single base substitution C T intron_variant BRCA-EU 4 39048297 39048297 single base substitution A G intron_variant BRCA-EU 4 39049611 39049611 single base substitution G T intron_variant BRCA-EU 4 39050702 39050702 single base substitution C G intron_variant BRCA-EU 4 39052473 39052473 single base substitution C G intron_variant BRCA-EU 4 39053462 39053462 single base substitution A C intron_variant BRCA-EU 4 39055229 39055229 single base substitution T C intron_variant BRCA-EU 4 39055681 39055681 single base substitution G A intron_variant BRCA-EU 4 39057334 39057334 single base substitution C A intron_variant BRCA-EU 4 39060801 39060801 single base substitution G C intron_variant BRCA-EU 4 39060801 39060801 single base substitution G C upstream_gene_variant BRCA-EU 4 39061706 39061706 single base substitution A G intron_variant BRCA-EU 4 39061706 39061706 single base substitution A G upstream_gene_variant BRCA-EU 4 39071349 39071349 single base substitution C G intron_variant BRCA-EU 4 39071378 39071378 deletion of <=200bp T - intron_variant BRCA-EU 4 39072126 39072126 single base substitution A G intron_variant BRCA-EU 4 39072334 39072334 single base substitution G T intron_variant BRCA-EU 4 39072728 39072728 single base substitution C T intron_variant BRCA-EU 4 39073569 39073569 single base substitution A G intron_variant BRCA-EU 4 39074017 39074017 single base substitution A G intron_variant BRCA-EU 4 39074061 39074061 single base substitution A G intron_variant BRCA-EU 4 39074101 39074101 single base substitution A T intron_variant BRCA-EU 4 39074796 39074796 single base substitution G A intron_variant BRCA-EU 4 39076593 39076593 single base substitution C G intron_variant BRCA-EU 4 39076870 39076870 single base substitution G A intron_variant BRCA-EU 4 39077019 39077019 single base substitution A G intron_variant BRCA-EU 4 39079574 39079574 single base substitution G C intron_variant BRCA-EU 4 39080976 39080976 single base substitution C T intron_variant BRCA-EU 4 39081173 39081173 single base substitution C T intron_variant BRCA-EU 4 39082112 39082112 single base substitution C T intron_variant BRCA-EU 4 39082157 39082157 single base substitution T A intron_variant BRCA-EU 4 39083700 39083700 single base substitution C T downstream_gene_variant BRCA-EU 4 39083700 39083700 single base substitution C T missense_variant S133F 398C>T BRCA-EU 4 39083700 39083700 single base substitution C T missense_variant S259F 776C>T BRCA-EU 4 39083700 39083700 single base substitution C T missense_variant S274F 821C>T BRCA-EU 4 39083700 39083700 single base substitution C T missense_variant S320F 959C>T BRCA-EU 4 39083765 39083765 single base substitution C G downstream_gene_variant BRCA-EU 4 39083765 39083765 single base substitution C G missense_variant H155D 463C>G BRCA-EU 4 39083765 39083765 single base substitution C G missense_variant H281D 841C>G BRCA-EU 4 39083765 39083765 single base substitution C G missense_variant H296D 886C>G BRCA-EU 4 39083765 39083765 single base substitution C G missense_variant H342D 1024C>G BRCA-EU 4 39084718 39084718 single base substitution C G downstream_gene_variant BRCA-EU 4 39084718 39084718 single base substitution C G intron_variant BRCA-EU 4 39087332 39087332 single base substitution G A downstream_gene_variant BRCA-EU 4 39087332 39087332 single base substitution G A intron_variant BRCA-EU 4 39090220 39090220 single base substitution G T intron_variant BRCA-EU 4 39090412 39090412 single base substitution G A intron_variant BRCA-EU 4 39090740 39090740 single base substitution A T intron_variant BRCA-EU 4 39092394 39092394 single base substitution G C intron_variant BRCA-EU 4 39094117 39094117 single base substitution A G intron_variant BRCA-EU 4 39094699 39094699 single base substitution C A intron_variant BRCA-EU 4 39095171 39095171 single base substitution C G intron_variant BRCA-EU 4 39098537 39098537 single base substitution G C intron_variant BRCA-EU 4 39098887 39098887 single base substitution A T intron_variant BRCA-EU 4 39102458 39102458 single base substitution C G intron_variant BRCA-EU 4 39102458 39102458 single base substitution C G upstream_gene_variant BRCA-EU 4 39104320 39104320 single base substitution C G intron_variant BRCA-EU 4 39104320 39104320 single base substitution C G upstream_gene_variant BRCA-EU 4 39111670 39111670 single base substitution G A intron_variant BRCA-EU 4 39112253 39112253 single base substitution T A intron_variant BRCA-EU 4 39112665 39112665 single base substitution G A intron_variant BRCA-EU 4 39112955 39112955 single base substitution T C intron_variant BRCA-EU 4 39114047 39114047 single base substitution C A intron_variant BRCA-EU 4 39119981 39119981 single base substitution G C downstream_gene_variant BRCA-EU 4 39119981 39119981 single base substitution G C intron_variant BRCA-EU 4 39120797 39120797 single base substitution A G downstream_gene_variant BRCA-EU 4 39120797 39120797 single base substitution A G intron_variant BRCA-EU 4 39121205 39121205 single base substitution A C downstream_gene_variant BRCA-EU 4 39121205 39121205 single base substitution A C intron_variant BRCA-EU 4 39124431 39124431 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 39124431 39124431 insertion of <=200bp - A intron_variant BRCA-EU 4 39124491 39124491 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 39124491 39124491 deletion of <=200bp A - intron_variant BRCA-EU 4 39125398 39125398 single base substitution T C downstream_gene_variant BRCA-EU 4 39125398 39125398 single base substitution T C intron_variant BRCA-EU 4 39126489 39126489 single base substitution A C downstream_gene_variant BRCA-EU 4 39126489 39126489 single base substitution A C intron_variant BRCA-EU 4 39126903 39126903 single base substitution G C downstream_gene_variant BRCA-EU 4 39126903 39126903 single base substitution G C intron_variant BRCA-EU 4 39127184 39127184 single base substitution C T downstream_gene_variant BRCA-EU 4 39127184 39127184 single base substitution C T intron_variant BRCA-EU 4 39129102 39129102 single base substitution C T downstream_gene_variant BRCA-EU 4 39130095 39130095 single base substitution G T downstream_gene_variant BRCA-EU 4 39130946 39130946 single base substitution G C downstream_gene_variant BRCA-EU 4 39132116 39132116 single base substitution T G downstream_gene_variant BRCA-FR 4 39046930 39046930 single base substitution C T intron_variant BRCA-FR 4 39048297 39048297 single base substitution A G intron_variant BRCA-FR 4 39070960 39070960 single base substitution C A intron_variant BRCA-FR 4 39072126 39072126 single base substitution A G intron_variant BRCA-FR 4 39076593 39076593 single base substitution C G intron_variant BRCA-FR 4 39079574 39079574 single base substitution G C intron_variant BRCA-FR 4 39084718 39084718 single base substitution C G downstream_gene_variant BRCA-FR 4 39084718 39084718 single base substitution C G intron_variant BRCA-FR 4 39090220 39090220 single base substitution G T intron_variant BRCA-FR 4 39090412 39090412 single base substitution G A intron_variant BRCA-FR 4 39095171 39095171 single base substitution C G intron_variant BRCA-FR 4 39098537 39098537 single base substitution G C intron_variant BRCA-FR 4 39128674 39128674 single base substitution C T downstream_gene_variant BRCA-FR 4 39130095 39130095 single base substitution G T downstream_gene_variant BRCA-UK 4 39050702 39050702 single base substitution C G intron_variant BRCA-UK 4 39127184 39127184 single base substitution C T downstream_gene_variant BRCA-UK 4 39127184 39127184 single base substitution C T intron_variant BRCA-US 4 39083600 39083600 single base substitution G T downstream_gene_variant BRCA-US 4 39083600 39083600 single base substitution G T stop_gained E100* 298G>T BRCA-US 4 39083600 39083600 single base substitution G T stop_gained E226* 676G>T BRCA-US 4 39083600 39083600 single base substitution G T stop_gained E241* 721G>T BRCA-US 4 39083600 39083600 single base substitution G T stop_gained E287* 859G>T BRCA-US 4 39104910 39104910 single base substitution C A missense_variant A294E 881C>A BRCA-US 4 39104910 39104910 single base substitution C A missense_variant A420E 1259C>A BRCA-US 4 39104910 39104910 single base substitution C A missense_variant A435E 1304C>A BRCA-US 4 39104910 39104910 single base substitution C A missense_variant A481E 1442C>A BRCA-US 4 39104910 39104910 single base substitution C A upstream_gene_variant BRCA-US 4 39114838 39114838 single base substitution A G synonymous_variant S186S 558A>G BRCA-US 4 39114838 39114838 single base substitution A G synonymous_variant S488S 1464A>G BRCA-US 4 39114838 39114838 single base substitution A G synonymous_variant S614S 1842A>G BRCA-US 4 39114838 39114838 single base substitution A G synonymous_variant S629S 1887A>G BRCA-US 4 39114838 39114838 single base substitution A G synonymous_variant S675S 2025A>G BTCA-JP 4 39088402 39088402 single base substitution A G intron_variant BTCA-JP 4 39105078 39105078 single base substitution A C missense_variant K350T 1049A>C BTCA-JP 4 39105078 39105078 single base substitution A C missense_variant K476T 1427A>C BTCA-JP 4 39105078 39105078 single base substitution A C missense_variant K48T 143A>C BTCA-JP 4 39105078 39105078 single base substitution A C missense_variant K491T 1472A>C BTCA-JP 4 39105078 39105078 single base substitution A C missense_variant K537T 1610A>C BTCA-JP 4 39116982 39116983 deletion of <=200bp CT - frameshift_variant T748 BTCA-JP 4 39116982 39116983 deletion of <=200bp CT - intron_variant BTCA-JP 4 39117004 39117004 single base substitution C T intron_variant BTCA-JP 4 39117004 39117004 single base substitution C T synonymous_variant F755F 2265C>T CESC-US 4 39077739 39077739 single base substitution G A 3_prime_UTR_variant CESC-US 4 39077739 39077739 single base substitution G A intron_variant CESC-US 4 39077739 39077739 single base substitution G A missense_variant A180T 538G>A CESC-US 4 39077739 39077739 single base substitution G A missense_variant A226T 676G>A CESC-US 4 39077739 39077739 single base substitution G A missense_variant A39T 115G>A CESC-US 4 39088213 39088213 single base substitution G A missense_variant D186N 556G>A CESC-US 4 39088213 39088213 single base substitution G A missense_variant D312N 934G>A CESC-US 4 39088213 39088213 single base substitution G A missense_variant D327N 979G>A CESC-US 4 39088213 39088213 single base substitution G A missense_variant D373N 1117G>A CESC-US 4 39104955 39104955 single base substitution C T missense_variant P309L 926C>T CESC-US 4 39104955 39104955 single base substitution C T missense_variant P435L 1304C>T CESC-US 4 39104955 39104955 single base substitution C T missense_variant P450L 1349C>T CESC-US 4 39104955 39104955 single base substitution C T missense_variant P496L 1487C>T CESC-US 4 39104955 39104955 single base substitution C T missense_variant P7L 20C>T CLLE-ES 4 39052742 39052742 single base substitution A T intron_variant COAD-US 4 39064252 39064252 single base substitution G A 5_prime_UTR_variant COAD-US 4 39064252 39064252 single base substitution G A intron_variant COAD-US 4 39064252 39064252 single base substitution G A missense_variant D40N 118G>A COAD-US 4 39064252 39064252 single base substitution G A upstream_gene_variant COAD-US 4 39064372 39064372 single base substitution A G intron_variant COAD-US 4 39064372 39064372 single base substitution A G missense_variant S34G 100A>G COAD-US 4 39064372 39064372 single base substitution A G missense_variant S80G 238A>G COAD-US 4 39064372 39064372 single base substitution A G upstream_gene_variant COAD-US 4 39064613 39064613 single base substitution G A exon_variant COAD-US 4 39064613 39064613 single base substitution G A intron_variant COAD-US 4 39064613 39064613 single base substitution G A missense_variant G114D 341G>A COAD-US 4 39064613 39064613 single base substitution G A missense_variant G160D 479G>A COAD-US 4 39077636 39077636 single base substitution T C 3_prime_UTR_variant COAD-US 4 39077636 39077636 single base substitution T C intron_variant COAD-US 4 39077636 39077636 single base substitution T C synonymous_variant C145C 435T>C COAD-US 4 39077636 39077636 single base substitution T C synonymous_variant C191C 573T>C COAD-US 4 39077636 39077636 single base substitution T C synonymous_variant C4C 12T>C COAD-US 4 39077666 39077666 single base substitution T G 3_prime_UTR_variant COAD-US 4 39077666 39077666 single base substitution T G intron_variant COAD-US 4 39077666 39077666 single base substitution T G missense_variant N14K 42T>G COAD-US 4 39077666 39077666 single base substitution T G missense_variant N155K 465T>G COAD-US 4 39077666 39077666 single base substitution T G missense_variant N201K 603T>G COAD-US 4 39088292 39088292 single base substitution G A missense_variant R212Q 635G>A COAD-US 4 39088292 39088292 single base substitution G A missense_variant R338Q 1013G>A COAD-US 4 39088292 39088292 single base substitution G A missense_variant R353Q 1058G>A COAD-US 4 39088292 39088292 single base substitution G A missense_variant R399Q 1196G>A COAD-US 4 39098318 39098318 single base substitution G A missense_variant A233T 697G>A COAD-US 4 39098318 39098318 single base substitution G A missense_variant A359T 1075G>A COAD-US 4 39098318 39098318 single base substitution G A missense_variant A374T 1120G>A COAD-US 4 39098318 39098318 single base substitution G A missense_variant A420T 1258G>A COAD-US 4 39098345 39098345 single base substitution C T missense_variant R242W 724C>T COAD-US 4 39098345 39098345 single base substitution C T missense_variant R368W 1102C>T COAD-US 4 39098345 39098345 single base substitution C T missense_variant R383W 1147C>T COAD-US 4 39098345 39098345 single base substitution C T missense_variant R429W 1285C>T COAD-US 4 39098352 39098352 single base substitution A G missense_variant D244G 731A>G COAD-US 4 39098352 39098352 single base substitution A G missense_variant D370G 1109A>G COAD-US 4 39098352 39098352 single base substitution A G missense_variant D385G 1154A>G COAD-US 4 39098352 39098352 single base substitution A G missense_variant D431G 1292A>G COAD-US 4 39098396 39098396 single base substitution T G missense_variant L259V 775T>G COAD-US 4 39098396 39098396 single base substitution T G missense_variant L385V 1153T>G COAD-US 4 39098396 39098396 single base substitution T G missense_variant L400V 1198T>G COAD-US 4 39098396 39098396 single base substitution T G missense_variant L446V 1336T>G COAD-US 4 39109339 39109339 single base substitution T C missense_variant V116A 347T>C COAD-US 4 39109339 39109339 single base substitution T C missense_variant V418A 1253T>C COAD-US 4 39109339 39109339 single base substitution T C missense_variant V544A 1631T>C COAD-US 4 39109339 39109339 single base substitution T C missense_variant V559A 1676T>C COAD-US 4 39109339 39109339 single base substitution T C missense_variant V605A 1814T>C COAD-US 4 39116842 39116842 deletion of <=200bp G - frameshift_variant V212 COAD-US 4 39116842 39116842 deletion of <=200bp G - frameshift_variant V514 COAD-US 4 39116842 39116842 deletion of <=200bp G - frameshift_variant V640 COAD-US 4 39116842 39116842 deletion of <=200bp G - frameshift_variant V655 COAD-US 4 39116842 39116842 deletion of <=200bp G - frameshift_variant V701 COAD-US 4 39116878 39116878 insertion of <=200bp - G frameshift_variant V224V? COAD-US 4 39116878 39116878 insertion of <=200bp - G frameshift_variant V526V? COAD-US 4 39116878 39116878 insertion of <=200bp - G frameshift_variant V652V? COAD-US 4 39116878 39116878 insertion of <=200bp - G frameshift_variant V667V? COAD-US 4 39116878 39116878 insertion of <=200bp - G frameshift_variant V713V? COAD-US 4 39116911 39116911 single base substitution T C synonymous_variant T235T 705T>C COAD-US 4 39116911 39116911 single base substitution T C synonymous_variant T537T 1611T>C COAD-US 4 39116911 39116911 single base substitution T C synonymous_variant T663T 1989T>C COAD-US 4 39116911 39116911 single base substitution T C synonymous_variant T678T 2034T>C COAD-US 4 39116911 39116911 single base substitution T C synonymous_variant T724T 2172T>C COCA-CN 4 39046651 39046651 single base substitution C G upstream_gene_variant COCA-CN 4 39064240 39064240 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 4 39064240 39064240 single base substitution C T intron_variant COCA-CN 4 39064240 39064240 single base substitution C T missense_variant R36C 106C>T COCA-CN 4 39064240 39064240 single base substitution C T upstream_gene_variant COCA-CN 4 39064576 39064576 single base substitution G A exon_variant COCA-CN 4 39064576 39064576 single base substitution G A intron_variant COCA-CN 4 39064576 39064576 single base substitution G A missense_variant G102S 304G>A COCA-CN 4 39064576 39064576 single base substitution G A missense_variant G148S 442G>A COCA-CN 4 39082865 39082865 single base substitution G A downstream_gene_variant COCA-CN 4 39082865 39082865 single base substitution G A splice_region_variant COCA-CN 4 39083555 39083555 single base substitution G T downstream_gene_variant COCA-CN 4 39083555 39083555 single base substitution G T intron_variant COCA-CN 4 39083717 39083717 single base substitution C T downstream_gene_variant COCA-CN 4 39083717 39083717 single base substitution C T missense_variant R139C 415C>T COCA-CN 4 39083717 39083717 single base substitution C T missense_variant R265C 793C>T COCA-CN 4 39083717 39083717 single base substitution C T missense_variant R280C 838C>T COCA-CN 4 39083717 39083717 single base substitution C T missense_variant R326C 976C>T COCA-CN 4 39098270 39098270 single base substitution T G intron_variant COCA-CN 4 39104874 39104874 single base substitution C A intron_variant COCA-CN 4 39104874 39104874 single base substitution C A upstream_gene_variant ESAD-UK 4 39046536 39046536 single base substitution G A upstream_gene_variant ESAD-UK 4 39048349 39048349 single base substitution A G intron_variant ESAD-UK 4 39051145 39051145 single base substitution A T intron_variant ESAD-UK 4 39052051 39052051 deletion of <=200bp C - intron_variant ESAD-UK 4 39052340 39052340 single base substitution A C intron_variant ESAD-UK 4 39052830 39052830 single base substitution C A intron_variant ESAD-UK 4 39055643 39055643 single base substitution A T intron_variant ESAD-UK 4 39056348 39056348 single base substitution C T intron_variant ESAD-UK 4 39059053 39059053 single base substitution G C intron_variant ESAD-UK 4 39059053 39059053 single base substitution G C upstream_gene_variant ESAD-UK 4 39060161 39060161 single base substitution C T intron_variant ESAD-UK 4 39060161 39060161 single base substitution C T upstream_gene_variant ESAD-UK 4 39060425 39060425 single base substitution G A intron_variant ESAD-UK 4 39060425 39060425 single base substitution G A upstream_gene_variant ESAD-UK 4 39061469 39061469 single base substitution A T intron_variant ESAD-UK 4 39061469 39061469 single base substitution A T upstream_gene_variant ESAD-UK 4 39062833 39062833 single base substitution T C intron_variant ESAD-UK 4 39062833 39062833 single base substitution T C upstream_gene_variant ESAD-UK 4 39063703 39063703 single base substitution T C intron_variant ESAD-UK 4 39063703 39063703 single base substitution T C upstream_gene_variant ESAD-UK 4 39064411 39064411 single base substitution G A intron_variant ESAD-UK 4 39064411 39064411 single base substitution G A missense_variant A47T 139G>A ESAD-UK 4 39064411 39064411 single base substitution G A missense_variant A93T 277G>A ESAD-UK 4 39064411 39064411 single base substitution G A upstream_gene_variant ESAD-UK 4 39064478 39064478 single base substitution G A intron_variant ESAD-UK 4 39064478 39064478 single base substitution G A missense_variant R115Q 344G>A ESAD-UK 4 39064478 39064478 single base substitution G A missense_variant R69Q 206G>A ESAD-UK 4 39064478 39064478 single base substitution G A upstream_gene_variant ESAD-UK 4 39065562 39065562 single base substitution C T intron_variant ESAD-UK 4 39068101 39068101 single base substitution T G intron_variant ESAD-UK 4 39070455 39070455 single base substitution C A intron_variant ESAD-UK 4 39070812 39070812 single base substitution C T intron_variant ESAD-UK 4 39071350 39071350 single base substitution T A intron_variant ESAD-UK 4 39071905 39071905 single base substitution C T intron_variant ESAD-UK 4 39072682 39072682 single base substitution G A intron_variant ESAD-UK 4 39073578 39073578 single base substitution G A intron_variant ESAD-UK 4 39073617 39073617 single base substitution C A intron_variant ESAD-UK 4 39077568 39077568 single base substitution T G intron_variant ESAD-UK 4 39077890 39077890 single base substitution T G intron_variant ESAD-UK 4 39078427 39078427 single base substitution T A intron_variant ESAD-UK 4 39079736 39079736 single base substitution C T intron_variant ESAD-UK 4 39081967 39081967 single base substitution C T intron_variant ESAD-UK 4 39082018 39082018 single base substitution C T intron_variant ESAD-UK 4 39083336 39083336 single base substitution A C downstream_gene_variant ESAD-UK 4 39083336 39083336 single base substitution A C intron_variant ESAD-UK 4 39086475 39086475 single base substitution A C downstream_gene_variant ESAD-UK 4 39086475 39086475 single base substitution A C intron_variant ESAD-UK 4 39086671 39086671 single base substitution G A downstream_gene_variant ESAD-UK 4 39086671 39086671 single base substitution G A intron_variant ESAD-UK 4 39091963 39091963 single base substitution T C intron_variant ESAD-UK 4 39092916 39092916 single base substitution T A intron_variant ESAD-UK 4 39096181 39096181 single base substitution A G intron_variant ESAD-UK 4 39096758 39096758 single base substitution T A intron_variant ESAD-UK 4 39100177 39100177 single base substitution G A intron_variant ESAD-UK 4 39100177 39100177 single base substitution G A upstream_gene_variant ESAD-UK 4 39101016 39101016 single base substitution T C intron_variant ESAD-UK 4 39101016 39101016 single base substitution T C upstream_gene_variant ESAD-UK 4 39101754 39101754 single base substitution T C intron_variant ESAD-UK 4 39101754 39101754 single base substitution T C upstream_gene_variant ESAD-UK 4 39103520 39103521 deletion of <=200bp AC - intron_variant ESAD-UK 4 39103520 39103521 deletion of <=200bp AC - upstream_gene_variant ESAD-UK 4 39104884 39104884 single base substitution A G intron_variant ESAD-UK 4 39104884 39104884 single base substitution A G upstream_gene_variant ESAD-UK 4 39105784 39105784 single base substitution C T intron_variant ESAD-UK 4 39107121 39107121 single base substitution A T intron_variant ESAD-UK 4 39107180 39107180 single base substitution G C intron_variant ESAD-UK 4 39107593 39107593 single base substitution G A intron_variant ESAD-UK 4 39107993 39107993 single base substitution T G intron_variant ESAD-UK 4 39108052 39108052 single base substitution A C intron_variant ESAD-UK 4 39110495 39110495 single base substitution C A intron_variant ESAD-UK 4 39111940 39111940 single base substitution G A intron_variant ESAD-UK 4 39113532 39113532 single base substitution T C intron_variant ESAD-UK 4 39113822 39113822 single base substitution C G intron_variant ESAD-UK 4 39114879 39114879 single base substitution A T intron_variant ESAD-UK 4 39120890 39120890 single base substitution G A downstream_gene_variant ESAD-UK 4 39120890 39120890 single base substitution G A intron_variant ESAD-UK 4 39122924 39122924 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 39122924 39122924 single base substitution C T downstream_gene_variant ESAD-UK 4 39122924 39122924 single base substitution C T intron_variant ESAD-UK 4 39124491 39124491 deletion of <=200bp A - downstream_gene_variant ESAD-UK 4 39124491 39124491 deletion of <=200bp A - intron_variant ESAD-UK 4 39125395 39125395 insertion of <=200bp - G downstream_gene_variant ESAD-UK 4 39125395 39125395 insertion of <=200bp - G intron_variant ESAD-UK 4 39125924 39125924 single base substitution G A downstream_gene_variant ESAD-UK 4 39125924 39125924 single base substitution G A intron_variant ESAD-UK 4 39128996 39128996 single base substitution G A downstream_gene_variant ESAD-UK 4 39129696 39129696 single base substitution A G downstream_gene_variant ESAD-UK 4 39130260 39130260 single base substitution G A downstream_gene_variant ESCA-CN 4 39064262 39064262 single base substitution T C 5_prime_UTR_variant ESCA-CN 4 39064262 39064262 single base substitution T C intron_variant ESCA-CN 4 39064262 39064262 single base substitution T C missense_variant V43A 128T>C ESCA-CN 4 39064262 39064262 single base substitution T C upstream_gene_variant ESCA-CN 4 39064322 39064322 single base substitution G C intron_variant ESCA-CN 4 39064322 39064322 single base substitution G C missense_variant R17T 50G>C ESCA-CN 4 39064322 39064322 single base substitution G C missense_variant R63T 188G>C ESCA-CN 4 39064322 39064322 single base substitution G C upstream_gene_variant GBM-US 4 39116788 39116788 single base substitution C G synonymous_variant P194P 582C>G GBM-US 4 39116788 39116788 single base substitution C G synonymous_variant P496P 1488C>G GBM-US 4 39116788 39116788 single base substitution C G synonymous_variant P622P 1866C>G GBM-US 4 39116788 39116788 single base substitution C G synonymous_variant P637P 1911C>G GBM-US 4 39116788 39116788 single base substitution C G synonymous_variant P683P 2049C>G GBM-US 4 39116882 39116882 single base substitution G A missense_variant G226R 676G>A GBM-US 4 39116882 39116882 single base substitution G A missense_variant G528R 1582G>A GBM-US 4 39116882 39116882 single base substitution G A missense_variant G654R 1960G>A GBM-US 4 39116882 39116882 single base substitution G A missense_variant G669R 2005G>A GBM-US 4 39116882 39116882 single base substitution G A missense_variant G715R 2143G>A KIRC-US 4 39083717 39083717 single base substitution C G downstream_gene_variant KIRC-US 4 39083717 39083717 single base substitution C G missense_variant R139G 415C>G KIRC-US 4 39083717 39083717 single base substitution C G missense_variant R265G 793C>G KIRC-US 4 39083717 39083717 single base substitution C G missense_variant R280G 838C>G KIRC-US 4 39083717 39083717 single base substitution C G missense_variant R326G 976C>G KIRC-US 4 39116919 39116919 single base substitution C T missense_variant A238V 713C>T KIRC-US 4 39116919 39116919 single base substitution C T missense_variant A540V 1619C>T KIRC-US 4 39116919 39116919 single base substitution C T missense_variant A666V 1997C>T KIRC-US 4 39116919 39116919 single base substitution C T missense_variant A681V 2042C>T KIRC-US 4 39116919 39116919 single base substitution C T missense_variant A727V 2180C>T LAML-KR 4 39104866 39104866 single base substitution T G intron_variant LAML-KR 4 39104866 39104866 single base substitution T G upstream_gene_variant LGG-US 4 39088270 39088270 single base substitution C T missense_variant R205C 613C>T LGG-US 4 39088270 39088270 single base substitution C T missense_variant R331C 991C>T LGG-US 4 39088270 39088270 single base substitution C T missense_variant R346C 1036C>T LGG-US 4 39088270 39088270 single base substitution C T missense_variant R392C 1174C>T LICA-CN 4 39064261 39064261 single base substitution G T 5_prime_UTR_variant LICA-CN 4 39064261 39064261 single base substitution G T intron_variant LICA-CN 4 39064261 39064261 single base substitution G T missense_variant V43F 127G>T LICA-CN 4 39064261 39064261 single base substitution G T upstream_gene_variant LICA-CN 4 39083736 39083736 single base substitution A T downstream_gene_variant LICA-CN 4 39083736 39083736 single base substitution A T missense_variant Q145L 434A>T LICA-CN 4 39083736 39083736 single base substitution A T missense_variant Q271L 812A>T LICA-CN 4 39083736 39083736 single base substitution A T missense_variant Q286L 857A>T LICA-CN 4 39083736 39083736 single base substitution A T missense_variant Q332L 995A>T LICA-FR 4 39043557 39043557 single base substitution A G upstream_gene_variant LICA-FR 4 39064609 39064609 single base substitution G A exon_variant LICA-FR 4 39064609 39064609 single base substitution G A intron_variant LICA-FR 4 39064609 39064609 single base substitution G A missense_variant D113N 337G>A LICA-FR 4 39064609 39064609 single base substitution G A missense_variant D159N 475G>A LICA-FR 4 39066976 39066977 deletion of <=200bp TT - intron_variant LICA-FR 4 39070058 39070058 insertion of <=200bp - TGTGTG intron_variant LICA-FR 4 39077389 39077389 single base substitution C A intron_variant LICA-FR 4 39079315 39079316 deletion of <=200bp AA - intron_variant LICA-FR 4 39083586 39083586 single base substitution G A downstream_gene_variant LICA-FR 4 39083586 39083586 single base substitution G A missense_variant R221H 662G>A LICA-FR 4 39083586 39083586 single base substitution G A missense_variant R236H 707G>A LICA-FR 4 39083586 39083586 single base substitution G A missense_variant R282H 845G>A LICA-FR 4 39083586 39083586 single base substitution G A missense_variant R95H 284G>A LICA-FR 4 39088524 39088524 single base substitution C T intron_variant LICA-FR 4 39089032 39089032 single base substitution A G intron_variant LICA-FR 4 39092070 39092070 deletion of <=200bp T - intron_variant LICA-FR 4 39103413 39103413 single base substitution C G intron_variant LICA-FR 4 39103413 39103413 single base substitution C G upstream_gene_variant LICA-FR 4 39114363 39114372 deletion of <=200bp ACCAATGGTG - intron_variant LICA-FR 4 39125352 39125352 single base substitution T C downstream_gene_variant LICA-FR 4 39125352 39125352 single base substitution T C intron_variant LICA-FR 4 39130746 39130746 single base substitution A G downstream_gene_variant LICA-FR 4 39132638 39132638 deletion of <=200bp T - downstream_gene_variant LINC-JP 4 39044998 39044998 single base substitution A T upstream_gene_variant LINC-JP 4 39056943 39056943 single base substitution A T intron_variant LINC-JP 4 39072347 39072347 single base substitution T C intron_variant LINC-JP 4 39083754 39083754 single base substitution A G downstream_gene_variant LINC-JP 4 39083754 39083754 single base substitution A G missense_variant H151R 452A>G LINC-JP 4 39083754 39083754 single base substitution A G missense_variant H277R 830A>G LINC-JP 4 39083754 39083754 single base substitution A G missense_variant H292R 875A>G LINC-JP 4 39083754 39083754 single base substitution A G missense_variant H338R 1013A>G LINC-JP 4 39108670 39108670 single base substitution C T intron_variant LINC-JP 4 39108749 39108749 single base substitution C T intron_variant LINC-JP 4 39112057 39112057 single base substitution C G intron_variant LIRI-JP 4 39041732 39041732 single base substitution T G upstream_gene_variant LIRI-JP 4 39042704 39042704 single base substitution A G upstream_gene_variant LIRI-JP 4 39045321 39045321 single base substitution T C upstream_gene_variant LIRI-JP 4 39045471 39045471 single base substitution T G upstream_gene_variant LIRI-JP 4 39047463 39047463 single base substitution T C intron_variant LIRI-JP 4 39047830 39047830 single base substitution C T intron_variant LIRI-JP 4 39048270 39048270 single base substitution C G intron_variant LIRI-JP 4 39048579 39048579 single base substitution G T intron_variant LIRI-JP 4 39049031 39049031 single base substitution C A intron_variant LIRI-JP 4 39052176 39052176 single base substitution C G intron_variant LIRI-JP 4 39053688 39053688 single base substitution A G intron_variant LIRI-JP 4 39055164 39055164 single base substitution T G intron_variant LIRI-JP 4 39058912 39058912 single base substitution A T intron_variant LIRI-JP 4 39058912 39058912 single base substitution A T upstream_gene_variant LIRI-JP 4 39059097 39059097 single base substitution G C intron_variant LIRI-JP 4 39059097 39059097 single base substitution G C upstream_gene_variant LIRI-JP 4 39060070 39060070 single base substitution A G intron_variant LIRI-JP 4 39060070 39060070 single base substitution A G upstream_gene_variant LIRI-JP 4 39061114 39061114 single base substitution C G intron_variant LIRI-JP 4 39061114 39061114 single base substitution C G upstream_gene_variant LIRI-JP 4 39061981 39061981 single base substitution T C intron_variant LIRI-JP 4 39061981 39061981 single base substitution T C upstream_gene_variant LIRI-JP 4 39062587 39062587 single base substitution C G intron_variant LIRI-JP 4 39062587 39062587 single base substitution C G upstream_gene_variant LIRI-JP 4 39065864 39065864 single base substitution T A intron_variant LIRI-JP 4 39066799 39066799 single base substitution T A intron_variant LIRI-JP 4 39070390 39070390 single base substitution A C intron_variant LIRI-JP 4 39070941 39070941 single base substitution A G intron_variant LIRI-JP 4 39071049 39071076 deletion of <=200bp TTTATATATATATATATATATATATATA - intron_variant LIRI-JP 4 39071205 39071205 single base substitution G A intron_variant LIRI-JP 4 39072103 39072103 single base substitution C A intron_variant LIRI-JP 4 39072352 39072352 single base substitution C T intron_variant LIRI-JP 4 39072369 39072369 single base substitution A G intron_variant LIRI-JP 4 39073630 39073630 single base substitution A G intron_variant LIRI-JP 4 39075208 39075208 single base substitution T A intron_variant LIRI-JP 4 39075672 39075672 single base substitution A G intron_variant LIRI-JP 4 39077724 39077724 single base substitution G T 3_prime_UTR_variant LIRI-JP 4 39077724 39077724 single base substitution G T intron_variant LIRI-JP 4 39077724 39077724 single base substitution G T missense_variant D175Y 523G>T LIRI-JP 4 39077724 39077724 single base substitution G T missense_variant D221Y 661G>T LIRI-JP 4 39077724 39077724 single base substitution G T missense_variant D34Y 100G>T LIRI-JP 4 39079110 39079110 single base substitution A G intron_variant LIRI-JP 4 39080118 39080118 single base substitution C G intron_variant LIRI-JP 4 39082683 39082683 single base substitution A T intron_variant LIRI-JP 4 39084542 39084542 deletion of <=200bp A - downstream_gene_variant LIRI-JP 4 39084542 39084542 deletion of <=200bp A - intron_variant LIRI-JP 4 39085541 39085541 single base substitution A G downstream_gene_variant LIRI-JP 4 39085541 39085541 single base substitution A G intron_variant LIRI-JP 4 39092181 39092181 single base substitution G T intron_variant LIRI-JP 4 39093438 39093438 single base substitution T C intron_variant LIRI-JP 4 39094097 39094097 single base substitution A G intron_variant LIRI-JP 4 39094604 39094604 single base substitution C T intron_variant LIRI-JP 4 39096028 39096028 single base substitution C A intron_variant LIRI-JP 4 39098157 39098157 single base substitution A G intron_variant LIRI-JP 4 39098946 39098946 single base substitution A C intron_variant LIRI-JP 4 39101488 39101488 single base substitution T C intron_variant LIRI-JP 4 39101488 39101488 single base substitution T C upstream_gene_variant LIRI-JP 4 39101936 39101936 single base substitution A C intron_variant LIRI-JP 4 39101936 39101936 single base substitution A C upstream_gene_variant LIRI-JP 4 39101952 39101952 single base substitution A T intron_variant LIRI-JP 4 39101952 39101952 single base substitution A T upstream_gene_variant LIRI-JP 4 39106138 39106138 single base substitution A G intron_variant LIRI-JP 4 39106347 39106347 single base substitution T G intron_variant LIRI-JP 4 39108729 39108729 single base substitution A G intron_variant LIRI-JP 4 39109606 39109606 single base substitution A G intron_variant LIRI-JP 4 39109931 39109931 single base substitution C T intron_variant LIRI-JP 4 39111910 39111910 single base substitution A G intron_variant LIRI-JP 4 39116056 39116056 single base substitution A G intron_variant LIRI-JP 4 39116781 39116781 single base substitution A G missense_variant Y192C 575A>G LIRI-JP 4 39116781 39116781 single base substitution A G missense_variant Y494C 1481A>G LIRI-JP 4 39116781 39116781 single base substitution A G missense_variant Y620C 1859A>G LIRI-JP 4 39116781 39116781 single base substitution A G missense_variant Y635C 1904A>G LIRI-JP 4 39116781 39116781 single base substitution A G missense_variant Y681C 2042A>G LIRI-JP 4 39117483 39117483 single base substitution C T 3_prime_UTR_variant LIRI-JP 4 39117483 39117483 single base substitution C T intron_variant LIRI-JP 4 39117541 39117541 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 39117541 39117541 single base substitution A G intron_variant LIRI-JP 4 39118097 39118097 deletion of <=200bp G - downstream_gene_variant LIRI-JP 4 39118097 39118097 deletion of <=200bp G - intron_variant LIRI-JP 4 39118145 39118145 deletion of <=200bp T - downstream_gene_variant LIRI-JP 4 39118145 39118145 deletion of <=200bp T - intron_variant LIRI-JP 4 39121521 39121521 single base substitution A G downstream_gene_variant LIRI-JP 4 39121521 39121521 single base substitution A G intron_variant LIRI-JP 4 39123949 39123949 single base substitution A G downstream_gene_variant LIRI-JP 4 39123949 39123949 single base substitution A G intron_variant LIRI-JP 4 39128962 39128962 single base substitution T C downstream_gene_variant LIRI-JP 4 39131047 39131047 single base substitution C T downstream_gene_variant LIRI-JP 4 39131081 39131081 single base substitution G A downstream_gene_variant LIRI-JP 4 39131414 39131414 single base substitution A G downstream_gene_variant LIRI-JP 4 39132124 39132124 single base substitution G A downstream_gene_variant LIRI-JP 4 39132994 39132994 single base substitution A G downstream_gene_variant LIRI-JP 4 39133162 39133162 single base substitution A G downstream_gene_variant LUSC-CN 4 39123499 39123499 single base substitution A G 3_prime_UTR_variant LUSC-CN 4 39123499 39123499 single base substitution A G downstream_gene_variant LUSC-CN 4 39123499 39123499 single base substitution A G intron_variant LUSC-KR 4 39041837 39041837 single base substitution T C upstream_gene_variant LUSC-KR 4 39048033 39048033 single base substitution C A intron_variant LUSC-KR 4 39050280 39050280 single base substitution G T intron_variant LUSC-KR 4 39051921 39051921 single base substitution C G intron_variant LUSC-KR 4 39065073 39065073 single base substitution A T intron_variant LUSC-KR 4 39066729 39066729 single base substitution A G intron_variant LUSC-KR 4 39070213 39070213 single base substitution A G intron_variant LUSC-KR 4 39071095 39071095 single base substitution C T intron_variant LUSC-KR 4 39076389 39076389 single base substitution A T intron_variant LUSC-KR 4 39083199 39083199 single base substitution T C downstream_gene_variant LUSC-KR 4 39083199 39083199 single base substitution T C intron_variant LUSC-KR 4 39085301 39085301 single base substitution A G downstream_gene_variant LUSC-KR 4 39085301 39085301 single base substitution A G intron_variant LUSC-KR 4 39091621 39091621 single base substitution G T intron_variant LUSC-KR 4 39094789 39094789 single base substitution C A intron_variant LUSC-KR 4 39098254 39098254 single base substitution C A intron_variant LUSC-KR 4 39102870 39102870 single base substitution A G intron_variant LUSC-KR 4 39102870 39102870 single base substitution A G upstream_gene_variant LUSC-KR 4 39103533 39103533 single base substitution T C intron_variant LUSC-KR 4 39103533 39103533 single base substitution T C upstream_gene_variant LUSC-KR 4 39108670 39108670 single base substitution C T intron_variant LUSC-KR 4 39109428 39109428 single base substitution T A intron_variant LUSC-KR 4 39115846 39115846 single base substitution T A intron_variant LUSC-KR 4 39115847 39115847 single base substitution G T intron_variant LUSC-KR 4 39117772 39117772 single base substitution G A 3_prime_UTR_variant LUSC-KR 4 39117772 39117772 single base substitution G A intron_variant LUSC-KR 4 39119360 39119360 single base substitution G A downstream_gene_variant LUSC-KR 4 39119360 39119360 single base substitution G A intron_variant LUSC-KR 4 39121630 39121630 single base substitution G C downstream_gene_variant LUSC-KR 4 39121630 39121630 single base substitution G C intron_variant LUSC-KR 4 39130597 39130597 single base substitution A G downstream_gene_variant LUSC-US 4 39064185 39064185 single base substitution A G 5_prime_UTR_variant LUSC-US 4 39064185 39064185 single base substitution A G intron_variant LUSC-US 4 39064185 39064185 single base substitution A G synonymous_variant A17A 51A>G LUSC-US 4 39064185 39064185 single base substitution A G upstream_gene_variant LUSC-US 4 39082828 39082828 single base substitution G A downstream_gene_variant LUSC-US 4 39082828 39082828 single base substitution G A synonymous_variant S209S 627G>A LUSC-US 4 39082828 39082828 single base substitution G A synonymous_variant S224S 672G>A LUSC-US 4 39082828 39082828 single base substitution G A synonymous_variant S270S 810G>A LUSC-US 4 39082828 39082828 single base substitution G A synonymous_variant S83S 249G>A LUSC-US 4 39083642 39083642 single base substitution C T downstream_gene_variant LUSC-US 4 39083642 39083642 single base substitution C T stop_gained Q114* 340C>T LUSC-US 4 39083642 39083642 single base substitution C T stop_gained Q240* 718C>T LUSC-US 4 39083642 39083642 single base substitution C T stop_gained Q255* 763C>T LUSC-US 4 39083642 39083642 single base substitution C T stop_gained Q301* 901C>T LUSC-US 4 39122658 39122658 single base substitution G A downstream_gene_variant LUSC-US 4 39122658 39122658 single base substitution G A intron_variant LUSC-US 4 39122658 39122658 single base substitution G A missense_variant G560E 1679G>A LUSC-US 4 39122658 39122658 single base substitution G A missense_variant G686E 2057G>A LUSC-US 4 39122658 39122658 single base substitution G A missense_variant G701E 2102G>A LUSC-US 4 39122658 39122658 single base substitution G A missense_variant G747E 2240G>A MALY-DE 4 39043807 39043807 single base substitution C A upstream_gene_variant MALY-DE 4 39050409 39050409 single base substitution G A intron_variant MALY-DE 4 39051920 39051920 single base substitution A T intron_variant MALY-DE 4 39053120 39053120 single base substitution T G intron_variant MALY-DE 4 39062062 39062062 insertion of <=200bp - ACCACCACCACCACC intron_variant MALY-DE 4 39062062 39062062 insertion of <=200bp - ACCACCACCACCACC upstream_gene_variant MALY-DE 4 39079082 39079082 insertion of <=200bp - A intron_variant MALY-DE 4 39082132 39082132 single base substitution T C intron_variant MALY-DE 4 39084412 39084412 single base substitution G T downstream_gene_variant MALY-DE 4 39084412 39084412 single base substitution G T intron_variant MALY-DE 4 39088143 39088143 single base substitution C T synonymous_variant F162F 486C>T MALY-DE 4 39088143 39088143 single base substitution C T synonymous_variant F288F 864C>T MALY-DE 4 39088143 39088143 single base substitution C T synonymous_variant F303F 909C>T MALY-DE 4 39088143 39088143 single base substitution C T synonymous_variant F349F 1047C>T MALY-DE 4 39092819 39092819 single base substitution G A intron_variant MALY-DE 4 39096593 39096593 single base substitution A G intron_variant MALY-DE 4 39100337 39100337 single base substitution C T intron_variant MALY-DE 4 39100337 39100337 single base substitution C T upstream_gene_variant MALY-DE 4 39100832 39100832 single base substitution C T intron_variant MALY-DE 4 39100832 39100832 single base substitution C T upstream_gene_variant MALY-DE 4 39103598 39103599 deletion of <=200bp AT - intron_variant MALY-DE 4 39103598 39103599 deletion of <=200bp AT - upstream_gene_variant MALY-DE 4 39103922 39103922 single base substitution G T intron_variant MALY-DE 4 39103922 39103922 single base substitution G T upstream_gene_variant MALY-DE 4 39112253 39112253 single base substitution T A intron_variant MALY-DE 4 39118029 39118029 single base substitution A G downstream_gene_variant MALY-DE 4 39118029 39118029 single base substitution A G intron_variant MALY-DE 4 39118279 39118279 single base substitution A G downstream_gene_variant MALY-DE 4 39118279 39118279 single base substitution A G intron_variant MALY-DE 4 39119248 39119248 single base substitution G A downstream_gene_variant MALY-DE 4 39119248 39119248 single base substitution G A intron_variant MALY-DE 4 39128714 39128714 single base substitution G A downstream_gene_variant MALY-DE 4 39133067 39133067 single base substitution A G downstream_gene_variant MELA-AU 4 39041783 39041783 single base substitution G A upstream_gene_variant MELA-AU 4 39042386 39042386 single base substitution G A upstream_gene_variant MELA-AU 4 39042422 39042422 single base substitution C T upstream_gene_variant MELA-AU 4 39042854 39042854 single base substitution G A upstream_gene_variant MELA-AU 4 39042985 39042985 single base substitution C T upstream_gene_variant MELA-AU 4 39043053 39043053 single base substitution A G upstream_gene_variant MELA-AU 4 39043101 39043101 single base substitution G A upstream_gene_variant MELA-AU 4 39043459 39043459 single base substitution C T upstream_gene_variant MELA-AU 4 39043705 39043705 single base substitution T C upstream_gene_variant MELA-AU 4 39043743 39043743 single base substitution C T upstream_gene_variant MELA-AU 4 39043772 39043772 single base substitution G A upstream_gene_variant MELA-AU 4 39043797 39043797 single base substitution C T upstream_gene_variant MELA-AU 4 39043900 39043900 single base substitution C T upstream_gene_variant MELA-AU 4 39044189 39044189 single base substitution G A upstream_gene_variant MELA-AU 4 39044324 39044324 single base substitution G A upstream_gene_variant MELA-AU 4 39044496 39044496 single base substitution T A upstream_gene_variant MELA-AU 4 39045714 39045714 single base substitution G A upstream_gene_variant MELA-AU 4 39048321 39048321 single base substitution C G intron_variant MELA-AU 4 39049226 39049226 single base substitution C T intron_variant MELA-AU 4 39049345 39049345 single base substitution T C intron_variant MELA-AU 4 39049842 39049842 single base substitution G A intron_variant MELA-AU 4 39051618 39051618 single base substitution C T intron_variant MELA-AU 4 39051848 39051848 single base substitution T C intron_variant MELA-AU 4 39052497 39052497 single base substitution C T intron_variant MELA-AU 4 39052861 39052861 single base substitution C T intron_variant MELA-AU 4 39053865 39053865 single base substitution C T intron_variant MELA-AU 4 39054266 39054266 single base substitution G A intron_variant MELA-AU 4 39054334 39054334 single base substitution A G intron_variant MELA-AU 4 39054344 39054344 single base substitution C T intron_variant MELA-AU 4 39054645 39054645 single base substitution T C intron_variant MELA-AU 4 39055421 39055422 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 39055647 39055647 single base substitution C T intron_variant MELA-AU 4 39057233 39057233 single base substitution T A intron_variant MELA-AU 4 39057445 39057445 single base substitution C T intron_variant MELA-AU 4 39057973 39057973 single base substitution C T intron_variant MELA-AU 4 39058050 39058050 single base substitution C T intron_variant MELA-AU 4 39058241 39058242 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 39058421 39058423 deletion of <=200bp TTC - intron_variant MELA-AU 4 39058639 39058639 single base substitution C T intron_variant MELA-AU 4 39058756 39058756 single base substitution C T intron_variant MELA-AU 4 39058916 39058916 single base substitution C T intron_variant MELA-AU 4 39058916 39058916 single base substitution C T upstream_gene_variant MELA-AU 4 39060043 39060043 single base substitution C T intron_variant MELA-AU 4 39060043 39060043 single base substitution C T upstream_gene_variant MELA-AU 4 39061799 39061799 single base substitution G A intron_variant MELA-AU 4 39061799 39061799 single base substitution G A upstream_gene_variant MELA-AU 4 39061982 39061982 single base substitution C T intron_variant MELA-AU 4 39061982 39061982 single base substitution C T upstream_gene_variant MELA-AU 4 39062481 39062481 single base substitution C T intron_variant MELA-AU 4 39062481 39062481 single base substitution C T upstream_gene_variant MELA-AU 4 39063461 39063461 single base substitution C T intron_variant MELA-AU 4 39063461 39063461 single base substitution C T upstream_gene_variant MELA-AU 4 39063698 39063702 deletion of <=200bp TTGTT - intron_variant MELA-AU 4 39063698 39063702 deletion of <=200bp TTGTT - upstream_gene_variant MELA-AU 4 39066451 39066451 single base substitution C T intron_variant MELA-AU 4 39067199 39067199 single base substitution C T intron_variant MELA-AU 4 39067955 39067955 single base substitution T C intron_variant MELA-AU 4 39068103 39068103 single base substitution T C intron_variant MELA-AU 4 39068342 39068342 single base substitution G T intron_variant MELA-AU 4 39068767 39068767 single base substitution C T intron_variant MELA-AU 4 39068856 39068856 single base substitution T C intron_variant MELA-AU 4 39069151 39069151 single base substitution C T intron_variant MELA-AU 4 39069746 39069746 single base substitution C T intron_variant MELA-AU 4 39070011 39070011 single base substitution C T intron_variant MELA-AU 4 39070323 39070323 single base substitution C T intron_variant MELA-AU 4 39070686 39070686 single base substitution C T intron_variant MELA-AU 4 39071586 39071586 single base substitution C T intron_variant MELA-AU 4 39072141 39072141 single base substitution C T intron_variant MELA-AU 4 39072283 39072283 single base substitution T C intron_variant MELA-AU 4 39072976 39072976 single base substitution C T intron_variant MELA-AU 4 39073168 39073168 single base substitution G A intron_variant MELA-AU 4 39073239 39073239 single base substitution C T intron_variant MELA-AU 4 39073259 39073259 single base substitution T G intron_variant MELA-AU 4 39073396 39073396 single base substitution C T intron_variant MELA-AU 4 39073435 39073435 single base substitution A T intron_variant MELA-AU 4 39073753 39073753 single base substitution G A intron_variant MELA-AU 4 39074483 39074483 single base substitution T C intron_variant MELA-AU 4 39075127 39075127 single base substitution G A intron_variant MELA-AU 4 39075356 39075356 single base substitution C T intron_variant MELA-AU 4 39075535 39075535 single base substitution C T intron_variant MELA-AU 4 39075853 39075853 single base substitution C T intron_variant MELA-AU 4 39076138 39076138 single base substitution C T intron_variant MELA-AU 4 39076213 39076213 single base substitution G T intron_variant MELA-AU 4 39076301 39076301 single base substitution C T intron_variant MELA-AU 4 39076320 39076320 single base substitution C T intron_variant MELA-AU 4 39076749 39076749 single base substitution C T intron_variant MELA-AU 4 39076945 39076945 single base substitution C T intron_variant MELA-AU 4 39077673 39077673 single base substitution G A 3_prime_UTR_variant MELA-AU 4 39077673 39077673 single base substitution G A intron_variant MELA-AU 4 39077673 39077673 single base substitution G A missense_variant E158K 472G>A MELA-AU 4 39077673 39077673 single base substitution G A missense_variant E17K 49G>A MELA-AU 4 39077673 39077673 single base substitution G A missense_variant E204K 610G>A MELA-AU 4 39077746 39077746 single base substitution A T 3_prime_UTR_variant MELA-AU 4 39077746 39077746 single base substitution A T intron_variant MELA-AU 4 39077746 39077746 single base substitution A T missense_variant D182V 545A>T MELA-AU 4 39077746 39077746 single base substitution A T missense_variant D228V 683A>T MELA-AU 4 39077746 39077746 single base substitution A T missense_variant D41V 122A>T MELA-AU 4 39078299 39078299 single base substitution A G intron_variant MELA-AU 4 39079076 39079076 single base substitution C T intron_variant MELA-AU 4 39079297 39079297 single base substitution C T intron_variant MELA-AU 4 39079330 39079330 single base substitution C A intron_variant MELA-AU 4 39079405 39079405 single base substitution C T intron_variant MELA-AU 4 39079792 39079792 single base substitution G A intron_variant MELA-AU 4 39080079 39080080 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 39080986 39080986 single base substitution C T intron_variant MELA-AU 4 39081234 39081234 single base substitution C T intron_variant MELA-AU 4 39081351 39081351 single base substitution G A intron_variant MELA-AU 4 39081824 39081824 single base substitution C T intron_variant MELA-AU 4 39082436 39082436 single base substitution C T intron_variant MELA-AU 4 39083043 39083043 single base substitution C T downstream_gene_variant MELA-AU 4 39083043 39083043 single base substitution C T intron_variant MELA-AU 4 39083177 39083177 single base substitution C T downstream_gene_variant MELA-AU 4 39083177 39083177 single base substitution C T intron_variant MELA-AU 4 39083419 39083419 single base substitution T A downstream_gene_variant MELA-AU 4 39083419 39083419 single base substitution T A intron_variant MELA-AU 4 39084726 39084726 single base substitution C T downstream_gene_variant MELA-AU 4 39084726 39084726 single base substitution C T intron_variant MELA-AU 4 39084785 39084785 single base substitution G A downstream_gene_variant MELA-AU 4 39084785 39084785 single base substitution G A intron_variant MELA-AU 4 39085040 39085041 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 39085040 39085041 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 39085216 39085216 single base substitution C T downstream_gene_variant MELA-AU 4 39085216 39085216 single base substitution C T intron_variant MELA-AU 4 39085420 39085420 single base substitution C T downstream_gene_variant MELA-AU 4 39085420 39085420 single base substitution C T intron_variant MELA-AU 4 39085498 39085498 single base substitution C T downstream_gene_variant MELA-AU 4 39085498 39085498 single base substitution C T intron_variant MELA-AU 4 39086091 39086092 multiple base substitution (>=2bp and <=200bp) TC GT downstream_gene_variant MELA-AU 4 39086091 39086092 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 4 39087507 39087507 single base substitution C T downstream_gene_variant MELA-AU 4 39087507 39087507 single base substitution C T intron_variant MELA-AU 4 39087546 39087546 single base substitution C T downstream_gene_variant MELA-AU 4 39087546 39087546 single base substitution C T intron_variant MELA-AU 4 39088269 39088269 single base substitution C T synonymous_variant V204V 612C>T MELA-AU 4 39088269 39088269 single base substitution C T synonymous_variant V330V 990C>T MELA-AU 4 39088269 39088269 single base substitution C T synonymous_variant V345V 1035C>T MELA-AU 4 39088269 39088269 single base substitution C T synonymous_variant V391V 1173C>T MELA-AU 4 39089111 39089112 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 4 39089323 39089323 single base substitution C T intron_variant MELA-AU 4 39089581 39089581 single base substitution A C intron_variant MELA-AU 4 39091067 39091067 single base substitution T G intron_variant MELA-AU 4 39092082 39092082 single base substitution T C intron_variant MELA-AU 4 39092842 39092842 single base substitution C T intron_variant MELA-AU 4 39094042 39094042 single base substitution C T intron_variant MELA-AU 4 39094441 39094441 single base substitution C T intron_variant MELA-AU 4 39094649 39094649 single base substitution C T intron_variant MELA-AU 4 39095205 39095205 single base substitution C T intron_variant MELA-AU 4 39095686 39095686 deletion of <=200bp T - intron_variant MELA-AU 4 39096509 39096509 single base substitution G A intron_variant MELA-AU 4 39098371 39098371 single base substitution C T synonymous_variant L250L 750C>T MELA-AU 4 39098371 39098371 single base substitution C T synonymous_variant L376L 1128C>T MELA-AU 4 39098371 39098371 single base substitution C T synonymous_variant L391L 1173C>T MELA-AU 4 39098371 39098371 single base substitution C T synonymous_variant L437L 1311C>T MELA-AU 4 39098498 39098498 single base substitution G A missense_variant G293R 877G>A MELA-AU 4 39098498 39098498 single base substitution G A missense_variant G419R 1255G>A MELA-AU 4 39098498 39098498 single base substitution G A missense_variant G434R 1300G>A MELA-AU 4 39098498 39098498 single base substitution G A missense_variant G480R 1438G>A MELA-AU 4 39099160 39099160 single base substitution C T intron_variant MELA-AU 4 39099429 39099429 single base substitution C T intron_variant MELA-AU 4 39099792 39099792 single base substitution T A intron_variant MELA-AU 4 39100236 39100236 single base substitution T A intron_variant MELA-AU 4 39100236 39100236 single base substitution T A upstream_gene_variant MELA-AU 4 39100870 39100870 single base substitution T C intron_variant MELA-AU 4 39100870 39100870 single base substitution T C upstream_gene_variant MELA-AU 4 39101193 39101193 single base substitution C T intron_variant MELA-AU 4 39101193 39101193 single base substitution C T upstream_gene_variant MELA-AU 4 39101246 39101246 single base substitution G A intron_variant MELA-AU 4 39101246 39101246 single base substitution G A upstream_gene_variant MELA-AU 4 39101325 39101325 single base substitution C T intron_variant MELA-AU 4 39101325 39101325 single base substitution C T upstream_gene_variant MELA-AU 4 39101434 39101434 single base substitution G A intron_variant MELA-AU 4 39101434 39101434 single base substitution G A upstream_gene_variant MELA-AU 4 39101501 39101501 single base substitution C T intron_variant MELA-AU 4 39101501 39101501 single base substitution C T upstream_gene_variant MELA-AU 4 39101990 39101990 single base substitution A G intron_variant MELA-AU 4 39101990 39101990 single base substitution A G upstream_gene_variant MELA-AU 4 39102230 39102230 single base substitution G A intron_variant MELA-AU 4 39102230 39102230 single base substitution G A upstream_gene_variant MELA-AU 4 39102586 39102586 single base substitution C T intron_variant MELA-AU 4 39102586 39102586 single base substitution C T upstream_gene_variant MELA-AU 4 39103051 39103051 single base substitution T A intron_variant MELA-AU 4 39103051 39103051 single base substitution T A upstream_gene_variant MELA-AU 4 39103215 39103215 single base substitution C T intron_variant MELA-AU 4 39103215 39103215 single base substitution C T upstream_gene_variant MELA-AU 4 39103772 39103772 single base substitution C T intron_variant MELA-AU 4 39103772 39103772 single base substitution C T upstream_gene_variant MELA-AU 4 39104594 39104594 single base substitution C T intron_variant MELA-AU 4 39104594 39104594 single base substitution C T upstream_gene_variant MELA-AU 4 39105096 39105096 single base substitution T G missense_variant V356G 1067T>G MELA-AU 4 39105096 39105096 single base substitution T G missense_variant V482G 1445T>G MELA-AU 4 39105096 39105096 single base substitution T G missense_variant V497G 1490T>G MELA-AU 4 39105096 39105096 single base substitution T G missense_variant V543G 1628T>G MELA-AU 4 39105096 39105096 single base substitution T G missense_variant V54G 161T>G MELA-AU 4 39105910 39105910 single base substitution G A intron_variant MELA-AU 4 39107098 39107098 single base substitution G A intron_variant MELA-AU 4 39107610 39107610 single base substitution C T intron_variant MELA-AU 4 39107862 39107862 single base substitution C T intron_variant MELA-AU 4 39107908 39107908 single base substitution C T intron_variant MELA-AU 4 39108163 39108163 single base substitution C T intron_variant MELA-AU 4 39108277 39108277 single base substitution A T intron_variant MELA-AU 4 39108882 39108882 single base substitution G T intron_variant MELA-AU 4 39110885 39110885 single base substitution T A intron_variant MELA-AU 4 39111118 39111118 single base substitution C T intron_variant MELA-AU 4 39111178 39111178 single base substitution C T intron_variant MELA-AU 4 39111333 39111333 single base substitution G A intron_variant MELA-AU 4 39111497 39111497 single base substitution T C intron_variant MELA-AU 4 39111599 39111599 single base substitution C T intron_variant MELA-AU 4 39111901 39111901 single base substitution T C intron_variant MELA-AU 4 39112314 39112314 single base substitution C T intron_variant MELA-AU 4 39112655 39112655 single base substitution C T intron_variant MELA-AU 4 39113219 39113219 single base substitution C T intron_variant MELA-AU 4 39113719 39113719 single base substitution C T intron_variant MELA-AU 4 39113815 39113815 single base substitution A C intron_variant MELA-AU 4 39113906 39113906 single base substitution C T intron_variant MELA-AU 4 39113985 39113985 single base substitution G C intron_variant MELA-AU 4 39114954 39114954 single base substitution C T intron_variant MELA-AU 4 39115038 39115039 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 4 39116419 39116419 single base substitution G A intron_variant MELA-AU 4 39116456 39116456 single base substitution T A intron_variant MELA-AU 4 39117114 39117114 single base substitution T G 3_prime_UTR_variant MELA-AU 4 39117114 39117114 single base substitution T G intron_variant MELA-AU 4 39118238 39118238 single base substitution G T downstream_gene_variant MELA-AU 4 39118238 39118238 single base substitution G T intron_variant MELA-AU 4 39118834 39118834 single base substitution C T downstream_gene_variant MELA-AU 4 39118834 39118834 single base substitution C T intron_variant MELA-AU 4 39120299 39120299 single base substitution C T downstream_gene_variant MELA-AU 4 39120299 39120299 single base substitution C T intron_variant MELA-AU 4 39120334 39120334 single base substitution C T downstream_gene_variant MELA-AU 4 39120334 39120334 single base substitution C T intron_variant MELA-AU 4 39120718 39120718 single base substitution C T downstream_gene_variant MELA-AU 4 39120718 39120718 single base substitution C T intron_variant MELA-AU 4 39120965 39120965 single base substitution G T downstream_gene_variant MELA-AU 4 39120965 39120965 single base substitution G T intron_variant MELA-AU 4 39120969 39120969 single base substitution G A downstream_gene_variant MELA-AU 4 39120969 39120969 single base substitution G A intron_variant MELA-AU 4 39121089 39121090 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 39121089 39121090 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 39121777 39121777 single base substitution G A downstream_gene_variant MELA-AU 4 39121777 39121777 single base substitution G A intron_variant MELA-AU 4 39121890 39121890 single base substitution C T downstream_gene_variant MELA-AU 4 39121890 39121890 single base substitution C T intron_variant MELA-AU 4 39121977 39121977 single base substitution C T downstream_gene_variant MELA-AU 4 39121977 39121977 single base substitution C T intron_variant MELA-AU 4 39122790 39122791 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 4 39122790 39122791 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 39122790 39122791 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 39122923 39122923 single base substitution C T 3_prime_UTR_variant MELA-AU 4 39122923 39122923 single base substitution C T downstream_gene_variant MELA-AU 4 39122923 39122923 single base substitution C T intron_variant MELA-AU 4 39123032 39123032 single base substitution C T 3_prime_UTR_variant MELA-AU 4 39123032 39123032 single base substitution C T downstream_gene_variant MELA-AU 4 39123032 39123032 single base substitution C T intron_variant MELA-AU 4 39124070 39124070 single base substitution C T downstream_gene_variant MELA-AU 4 39124070 39124070 single base substitution C T intron_variant MELA-AU 4 39124081 39124081 single base substitution C T downstream_gene_variant MELA-AU 4 39124081 39124081 single base substitution C T intron_variant MELA-AU 4 39124142 39124142 single base substitution C T downstream_gene_variant MELA-AU 4 39124142 39124142 single base substitution C T intron_variant MELA-AU 4 39124387 39124387 single base substitution C T downstream_gene_variant MELA-AU 4 39124387 39124387 single base substitution C T intron_variant MELA-AU 4 39124426 39124426 single base substitution C T downstream_gene_variant MELA-AU 4 39124426 39124426 single base substitution C T intron_variant MELA-AU 4 39125316 39125316 single base substitution G T downstream_gene_variant MELA-AU 4 39125316 39125316 single base substitution G T intron_variant MELA-AU 4 39125358 39125358 single base substitution C T downstream_gene_variant MELA-AU 4 39125358 39125358 single base substitution C T intron_variant MELA-AU 4 39125420 39125420 single base substitution C T downstream_gene_variant MELA-AU 4 39125420 39125420 single base substitution C T intron_variant MELA-AU 4 39125559 39125559 single base substitution C T downstream_gene_variant MELA-AU 4 39125559 39125559 single base substitution C T intron_variant MELA-AU 4 39125904 39125904 single base substitution C T downstream_gene_variant MELA-AU 4 39125904 39125904 single base substitution C T intron_variant MELA-AU 4 39126174 39126174 single base substitution C T downstream_gene_variant MELA-AU 4 39126174 39126174 single base substitution C T intron_variant MELA-AU 4 39128499 39128499 single base substitution A T downstream_gene_variant MELA-AU 4 39128581 39128581 single base substitution C T downstream_gene_variant MELA-AU 4 39129378 39129378 single base substitution C T downstream_gene_variant MELA-AU 4 39130481 39130481 single base substitution G T downstream_gene_variant MELA-AU 4 39130699 39130699 single base substitution T C downstream_gene_variant MELA-AU 4 39131281 39131281 single base substitution C T downstream_gene_variant MELA-AU 4 39131481 39131481 single base substitution C T downstream_gene_variant MELA-AU 4 39131708 39131708 single base substitution G A downstream_gene_variant MELA-AU 4 39132016 39132016 single base substitution G T downstream_gene_variant MELA-AU 4 39133072 39133073 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant ORCA-IN 4 39070086 39070086 single base substitution A T intron_variant ORCA-IN 4 39081282 39081282 single base substitution C G intron_variant ORCA-IN 4 39088376 39088376 deletion of <=200bp T - intron_variant ORCA-IN 4 39091643 39091643 single base substitution A G intron_variant OV-AU 4 39045027 39045027 single base substitution T C upstream_gene_variant OV-AU 4 39045134 39045134 single base substitution G C upstream_gene_variant OV-AU 4 39062509 39062509 single base substitution C A intron_variant OV-AU 4 39062509 39062509 single base substitution C A upstream_gene_variant OV-AU 4 39062757 39062757 single base substitution C G intron_variant OV-AU 4 39062757 39062757 single base substitution C G upstream_gene_variant OV-AU 4 39068056 39068056 single base substitution A G intron_variant OV-AU 4 39071091 39071091 single base substitution T C intron_variant OV-AU 4 39102835 39102835 single base substitution A C intron_variant OV-AU 4 39102835 39102835 single base substitution A C upstream_gene_variant OV-AU 4 39104286 39104286 single base substitution C A intron_variant OV-AU 4 39104286 39104286 single base substitution C A upstream_gene_variant OV-AU 4 39104918 39104918 single base substitution A C missense_variant I297L 889A>C OV-AU 4 39104918 39104918 single base substitution A C missense_variant I423L 1267A>C OV-AU 4 39104918 39104918 single base substitution A C missense_variant I438L 1312A>C OV-AU 4 39104918 39104918 single base substitution A C missense_variant I484L 1450A>C OV-AU 4 39104918 39104918 single base substitution A C upstream_gene_variant OV-AU 4 39104937 39104937 single base substitution G A missense_variant R1H 2G>A OV-AU 4 39104937 39104937 single base substitution G A missense_variant R303H 908G>A OV-AU 4 39104937 39104937 single base substitution G A missense_variant R429H 1286G>A OV-AU 4 39104937 39104937 single base substitution G A missense_variant R444H 1331G>A OV-AU 4 39104937 39104937 single base substitution G A missense_variant R490H 1469G>A OV-AU 4 39107071 39107071 single base substitution A G intron_variant OV-AU 4 39117493 39117493 single base substitution T C 3_prime_UTR_variant OV-AU 4 39117493 39117493 single base substitution T C intron_variant OV-AU 4 39118205 39118205 single base substitution A T downstream_gene_variant OV-AU 4 39118205 39118205 single base substitution A T intron_variant OV-AU 4 39118805 39118805 single base substitution T C downstream_gene_variant OV-AU 4 39118805 39118805 single base substitution T C intron_variant OV-AU 4 39118806 39118806 single base substitution A T downstream_gene_variant OV-AU 4 39118806 39118806 single base substitution A T intron_variant OV-AU 4 39127996 39127996 single base substitution C A downstream_gene_variant OV-AU 4 39127996 39127996 single base substitution C A intron_variant PACA-AU 4 39053957 39053957 single base substitution C T intron_variant PACA-AU 4 39060442 39060442 single base substitution G C intron_variant PACA-AU 4 39060442 39060442 single base substitution G C upstream_gene_variant PACA-AU 4 39060712 39060716 deletion of <=200bp CTTGG - intron_variant PACA-AU 4 39060712 39060716 deletion of <=200bp CTTGG - upstream_gene_variant PACA-AU 4 39065903 39065903 single base substitution T A intron_variant PACA-AU 4 39066486 39066486 single base substitution T A intron_variant PACA-AU 4 39069213 39069213 single base substitution C T intron_variant PACA-AU 4 39069630 39069630 deletion of <=200bp C - intron_variant PACA-AU 4 39069894 39069897 deletion of <=200bp AAAA - intron_variant PACA-AU 4 39070100 39070100 deletion of <=200bp G - intron_variant PACA-AU 4 39077609 39077611 deletion of <=200bp ATC - 3_prime_UTR_variant PACA-AU 4 39077609 39077611 deletion of <=200bp ATC - 5_prime_UTR_variant PACA-AU 4 39077609 39077611 deletion of <=200bp ATC - inframe_deletion LS136L PACA-AU 4 39077609 39077611 deletion of <=200bp ATC - inframe_deletion LS182L PACA-AU 4 39077609 39077611 deletion of <=200bp ATC - intron_variant PACA-AU 4 39077800 39077800 single base substitution A C intron_variant PACA-AU 4 39081358 39081358 single base substitution G A intron_variant PACA-AU 4 39089344 39089351 deletion of <=200bp CTCAAGGC - intron_variant PACA-AU 4 39091266 39091266 single base substitution C T intron_variant PACA-AU 4 39093645 39093645 single base substitution T G intron_variant PACA-AU 4 39096066 39096066 single base substitution A C intron_variant PACA-AU 4 39096984 39096984 single base substitution A G intron_variant PACA-AU 4 39100648 39100648 single base substitution A T intron_variant PACA-AU 4 39100648 39100648 single base substitution A T upstream_gene_variant PACA-AU 4 39101875 39101875 single base substitution C T intron_variant PACA-AU 4 39101875 39101875 single base substitution C T upstream_gene_variant PACA-AU 4 39102041 39102041 single base substitution T G intron_variant PACA-AU 4 39102041 39102041 single base substitution T G upstream_gene_variant PACA-AU 4 39107964 39107964 single base substitution A G intron_variant PACA-AU 4 39109336 39109336 single base substitution C T missense_variant A115V 344C>T PACA-AU 4 39109336 39109336 single base substitution C T missense_variant A417V 1250C>T PACA-AU 4 39109336 39109336 single base substitution C T missense_variant A543V 1628C>T PACA-AU 4 39109336 39109336 single base substitution C T missense_variant A558V 1673C>T PACA-AU 4 39109336 39109336 single base substitution C T missense_variant A604V 1811C>T PACA-AU 4 39112118 39112118 single base substitution G A intron_variant PACA-AU 4 39115505 39115505 single base substitution G C intron_variant PACA-AU 4 39118311 39118311 single base substitution G A downstream_gene_variant PACA-AU 4 39118311 39118311 single base substitution G A intron_variant PACA-AU 4 39122214 39122214 single base substitution T A downstream_gene_variant PACA-AU 4 39122214 39122214 single base substitution T A intron_variant PACA-AU 4 39127037 39127037 single base substitution G A downstream_gene_variant PACA-AU 4 39127037 39127037 single base substitution G A intron_variant PACA-CA 4 39047359 39047359 single base substitution A C intron_variant PACA-CA 4 39050408 39050408 single base substitution C T intron_variant PACA-CA 4 39050942 39050942 single base substitution T C intron_variant PACA-CA 4 39052427 39052427 single base substitution G T intron_variant PACA-CA 4 39054009 39054009 single base substitution G A intron_variant PACA-CA 4 39055183 39055183 insertion of <=200bp - T intron_variant PACA-CA 4 39055450 39055450 single base substitution G C intron_variant PACA-CA 4 39055680 39055680 single base substitution C T intron_variant PACA-CA 4 39059481 39059481 single base substitution A G intron_variant PACA-CA 4 39059481 39059481 single base substitution A G upstream_gene_variant PACA-CA 4 39061241 39061241 single base substitution G A intron_variant PACA-CA 4 39061241 39061241 single base substitution G A upstream_gene_variant PACA-CA 4 39061920 39061920 single base substitution G A intron_variant PACA-CA 4 39061920 39061920 single base substitution G A upstream_gene_variant PACA-CA 4 39070265 39070265 single base substitution C T intron_variant PACA-CA 4 39071341 39071341 single base substitution A G intron_variant PACA-CA 4 39071597 39071597 single base substitution G A intron_variant PACA-CA 4 39071712 39071712 single base substitution G A intron_variant PACA-CA 4 39073584 39073584 single base substitution C T intron_variant PACA-CA 4 39073929 39073929 single base substitution T C intron_variant PACA-CA 4 39075170 39075170 insertion of <=200bp - CTT intron_variant PACA-CA 4 39078183 39078183 single base substitution C T intron_variant PACA-CA 4 39087567 39087567 single base substitution C T downstream_gene_variant PACA-CA 4 39087567 39087567 single base substitution C T intron_variant PACA-CA 4 39088786 39088786 single base substitution G A intron_variant PACA-CA 4 39095426 39095426 single base substitution T C intron_variant PACA-CA 4 39097473 39097473 single base substitution T G intron_variant PACA-CA 4 39104286 39104286 single base substitution C A intron_variant PACA-CA 4 39104286 39104286 single base substitution C A upstream_gene_variant PACA-CA 4 39112846 39112846 single base substitution T C intron_variant PACA-CA 4 39117858 39117858 single base substitution C A 3_prime_UTR_variant PACA-CA 4 39117858 39117858 single base substitution C A intron_variant PACA-CA 4 39124436 39124436 single base substitution A T downstream_gene_variant PACA-CA 4 39124436 39124436 single base substitution A T intron_variant PACA-CA 4 39124510 39124510 single base substitution C G downstream_gene_variant PACA-CA 4 39124510 39124510 single base substitution C G intron_variant PACA-CA 4 39126826 39126826 single base substitution G A downstream_gene_variant PACA-CA 4 39126826 39126826 single base substitution G A intron_variant PAEN-AU 4 39069510 39069510 single base substitution C T intron_variant PAEN-AU 4 39108228 39108228 single base substitution T A intron_variant PAEN-AU 4 39115267 39115267 single base substitution G C intron_variant PAEN-IT 4 39054964 39054964 single base substitution G A intron_variant PAEN-IT 4 39089236 39089236 single base substitution T G intron_variant PBCA-DE 4 39045180 39045180 single base substitution G A upstream_gene_variant PBCA-DE 4 39046664 39046664 single base substitution G T 5_prime_UTR_variant PBCA-DE 4 39046664 39046664 single base substitution G T upstream_gene_variant PBCA-DE 4 39051619 39051619 single base substitution C T intron_variant PBCA-DE 4 39063668 39063668 single base substitution A G intron_variant PBCA-DE 4 39063668 39063668 single base substitution A G upstream_gene_variant PBCA-DE 4 39070969 39070969 single base substitution G A intron_variant PBCA-DE 4 39079442 39079442 single base substitution C T intron_variant PBCA-DE 4 39084686 39084686 single base substitution A G downstream_gene_variant PBCA-DE 4 39084686 39084686 single base substitution A G intron_variant PBCA-DE 4 39122178 39122178 single base substitution A G downstream_gene_variant PBCA-DE 4 39122178 39122178 single base substitution A G intron_variant PRAD-CA 4 39103601 39103601 single base substitution T C intron_variant PRAD-CA 4 39103601 39103601 single base substitution T C upstream_gene_variant PRAD-CA 4 39125002 39125002 single base substitution A C downstream_gene_variant PRAD-CA 4 39125002 39125002 single base substitution A C intron_variant PRAD-CA 4 39128507 39128507 single base substitution G A downstream_gene_variant PRAD-UK 4 39085403 39085403 single base substitution G A downstream_gene_variant PRAD-UK 4 39085403 39085403 single base substitution G A intron_variant PRAD-UK 4 39095870 39095870 single base substitution A G intron_variant PRAD-UK 4 39112378 39112378 single base substitution G A intron_variant PRAD-US 4 39064620 39064620 single base substitution T G exon_variant PRAD-US 4 39064620 39064620 single base substitution T G intron_variant PRAD-US 4 39064620 39064620 single base substitution T G missense_variant S116R 348T>G PRAD-US 4 39064620 39064620 single base substitution T G missense_variant S162R 486T>G READ-US 4 39083717 39083717 single base substitution C T downstream_gene_variant READ-US 4 39083717 39083717 single base substitution C T missense_variant R139C 415C>T READ-US 4 39083717 39083717 single base substitution C T missense_variant R265C 793C>T READ-US 4 39083717 39083717 single base substitution C T missense_variant R280C 838C>T READ-US 4 39083717 39083717 single base substitution C T missense_variant R326C 976C>T RECA-EU 4 39045890 39045890 single base substitution C T upstream_gene_variant RECA-EU 4 39048648 39048648 single base substitution T C intron_variant RECA-EU 4 39062334 39062334 single base substitution A T intron_variant RECA-EU 4 39062334 39062334 single base substitution A T upstream_gene_variant RECA-EU 4 39063776 39063776 single base substitution A G intron_variant RECA-EU 4 39063776 39063776 single base substitution A G upstream_gene_variant RECA-EU 4 39065372 39065372 single base substitution A G 3_prime_UTR_variant RECA-EU 4 39065372 39065372 single base substitution A G intron_variant RECA-EU 4 39073860 39073860 single base substitution T G intron_variant RECA-EU 4 39083387 39083387 single base substitution T A downstream_gene_variant RECA-EU 4 39083387 39083387 single base substitution T A intron_variant RECA-EU 4 39093464 39093464 single base substitution T G intron_variant RECA-EU 4 39095542 39095542 single base substitution T C intron_variant SKCA-BR 4 39043445 39043445 single base substitution C T upstream_gene_variant SKCA-BR 4 39045445 39045445 single base substitution G C upstream_gene_variant SKCA-BR 4 39046019 39046023 deletion of <=200bp GAGGC - upstream_gene_variant SKCA-BR 4 39051089 39051089 single base substitution C T intron_variant SKCA-BR 4 39052767 39052767 single base substitution C T intron_variant SKCA-BR 4 39053022 39053022 single base substitution G A intron_variant SKCA-BR 4 39055323 39055323 single base substitution G A intron_variant SKCA-BR 4 39062189 39062189 single base substitution T C intron_variant SKCA-BR 4 39062189 39062189 single base substitution T C upstream_gene_variant SKCA-BR 4 39064632 39064632 single base substitution T A exon_variant SKCA-BR 4 39064632 39064632 single base substitution T A intron_variant SKCA-BR 4 39064632 39064632 single base substitution T A missense_variant N120K 360T>A SKCA-BR 4 39064632 39064632 single base substitution T A missense_variant N166K 498T>A SKCA-BR 4 39066550 39066550 single base substitution C T intron_variant SKCA-BR 4 39067396 39067396 insertion of <=200bp - TAA intron_variant SKCA-BR 4 39069893 39069893 insertion of <=200bp - GA intron_variant SKCA-BR 4 39070715 39070715 single base substitution C T intron_variant SKCA-BR 4 39071073 39071095 deletion of <=200bp TATATATATATATATATATATAC - intron_variant SKCA-BR 4 39071093 39071093 single base substitution T C intron_variant SKCA-BR 4 39075295 39075295 single base substitution C T intron_variant SKCA-BR 4 39081059 39081059 single base substitution C T intron_variant SKCA-BR 4 39082061 39082061 single base substitution G C intron_variant SKCA-BR 4 39082827 39082827 single base substitution C T downstream_gene_variant SKCA-BR 4 39082827 39082827 single base substitution C T missense_variant S209L 626C>T SKCA-BR 4 39082827 39082827 single base substitution C T missense_variant S224L 671C>T SKCA-BR 4 39082827 39082827 single base substitution C T missense_variant S270L 809C>T SKCA-BR 4 39082827 39082827 single base substitution C T missense_variant S83L 248C>T SKCA-BR 4 39092463 39092463 single base substitution C T intron_variant SKCA-BR 4 39092860 39092860 single base substitution C T intron_variant SKCA-BR 4 39093461 39093461 insertion of <=200bp - AGT intron_variant SKCA-BR 4 39093464 39093464 single base substitution T G intron_variant SKCA-BR 4 39094316 39094316 single base substitution C T intron_variant SKCA-BR 4 39102277 39102277 single base substitution C T intron_variant SKCA-BR 4 39102277 39102277 single base substitution C T upstream_gene_variant SKCA-BR 4 39102743 39102745 deletion of <=200bp ATT - intron_variant SKCA-BR 4 39102743 39102745 deletion of <=200bp ATT - upstream_gene_variant SKCA-BR 4 39102760 39102760 single base substitution A C intron_variant SKCA-BR 4 39102760 39102760 single base substitution A C upstream_gene_variant SKCA-BR 4 39102762 39102762 single base substitution A C intron_variant SKCA-BR 4 39102762 39102762 single base substitution A C upstream_gene_variant SKCA-BR 4 39103359 39103359 single base substitution G T intron_variant SKCA-BR 4 39103359 39103359 single base substitution G T upstream_gene_variant SKCA-BR 4 39103444 39103444 single base substitution T G intron_variant SKCA-BR 4 39103444 39103444 single base substitution T G upstream_gene_variant SKCA-BR 4 39103479 39103479 insertion of <=200bp - AT intron_variant SKCA-BR 4 39103479 39103479 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 4 39103479 39103479 single base substitution A T intron_variant SKCA-BR 4 39103479 39103479 single base substitution A T upstream_gene_variant SKCA-BR 4 39104595 39104595 single base substitution C T intron_variant SKCA-BR 4 39104595 39104595 single base substitution C T upstream_gene_variant SKCA-BR 4 39114350 39114350 single base substitution C T intron_variant SKCA-BR 4 39115635 39115635 single base substitution T A intron_variant SKCA-BR 4 39119679 39119679 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 4 39119679 39119679 insertion of <=200bp - TA intron_variant SKCA-BR 4 39122416 39122416 single base substitution C T downstream_gene_variant SKCA-BR 4 39122416 39122416 single base substitution C T intron_variant SKCA-BR 4 39122680 39122680 single base substitution A T downstream_gene_variant SKCA-BR 4 39122680 39122680 single base substitution A T intron_variant SKCA-BR 4 39122680 39122680 single base substitution A T missense_variant K567N 1701A>T SKCA-BR 4 39122680 39122680 single base substitution A T missense_variant K693N 2079A>T SKCA-BR 4 39122680 39122680 single base substitution A T missense_variant K708N 2124A>T SKCA-BR 4 39122680 39122680 single base substitution A T missense_variant K754N 2262A>T SKCA-BR 4 39122692 39122692 single base substitution T G 3_prime_UTR_variant SKCA-BR 4 39122692 39122692 single base substitution T G downstream_gene_variant SKCA-BR 4 39122692 39122692 single base substitution T G intron_variant SKCA-BR 4 39124112 39124112 single base substitution T C downstream_gene_variant SKCA-BR 4 39124112 39124112 single base substitution T C intron_variant SKCA-BR 4 39128159 39128159 single base substitution C T downstream_gene_variant SKCA-BR 4 39128159 39128159 single base substitution C T intron_variant SKCA-BR 4 39129879 39129879 single base substitution C T downstream_gene_variant SKCA-BR 4 39130150 39130150 single base substitution C T downstream_gene_variant SKCA-BR 4 39130380 39130380 single base substitution C T downstream_gene_variant SKCA-BR 4 39130953 39130953 single base substitution G T downstream_gene_variant SKCM-US 4 39064637 39064637 single base substitution C T exon_variant SKCM-US 4 39064637 39064637 single base substitution C T intron_variant SKCM-US 4 39064637 39064637 single base substitution C T missense_variant S122F 365C>T SKCM-US 4 39064637 39064637 single base substitution C T missense_variant S168F 503C>T SKCM-US 4 39077585 39077585 single base substitution G A intron_variant SKCM-US 4 39077585 39077585 single base substitution G A splice_region_variant SKCM-US 4 39082836 39082836 single base substitution C T downstream_gene_variant SKCM-US 4 39082836 39082836 single base substitution C T missense_variant S212F 635C>T SKCM-US 4 39082836 39082836 single base substitution C T missense_variant S227F 680C>T SKCM-US 4 39082836 39082836 single base substitution C T missense_variant S273F 818C>T SKCM-US 4 39082836 39082836 single base substitution C T missense_variant S86F 257C>T SKCM-US 4 39083653 39083653 single base substitution G A downstream_gene_variant SKCM-US 4 39083653 39083653 single base substitution G A synonymous_variant Q117Q 351G>A SKCM-US 4 39083653 39083653 single base substitution G A synonymous_variant Q243Q 729G>A SKCM-US 4 39083653 39083653 single base substitution G A synonymous_variant Q258Q 774G>A SKCM-US 4 39083653 39083653 single base substitution G A synonymous_variant Q304Q 912G>A SKCM-US 4 39083717 39083717 single base substitution C T downstream_gene_variant SKCM-US 4 39083717 39083717 single base substitution C T missense_variant R139C 415C>T SKCM-US 4 39083717 39083717 single base substitution C T missense_variant R265C 793C>T SKCM-US 4 39083717 39083717 single base substitution C T missense_variant R280C 838C>T SKCM-US 4 39083717 39083717 single base substitution C T missense_variant R326C 976C>T SKCM-US 4 39088189 39088189 single base substitution G A missense_variant E178K 532G>A SKCM-US 4 39088189 39088189 single base substitution G A missense_variant E304K 910G>A SKCM-US 4 39088189 39088189 single base substitution G A missense_variant E319K 955G>A SKCM-US 4 39088189 39088189 single base substitution G A missense_variant E365K 1093G>A SKCM-US 4 39104936 39104936 single base substitution C T missense_variant R1C 1C>T SKCM-US 4 39104936 39104936 single base substitution C T missense_variant R303C 907C>T SKCM-US 4 39104936 39104936 single base substitution C T missense_variant R429C 1285C>T SKCM-US 4 39104936 39104936 single base substitution C T missense_variant R444C 1330C>T SKCM-US 4 39104936 39104936 single base substitution C T missense_variant R490C 1468C>T SKCM-US 4 39114659 39114659 single base substitution C T missense_variant R127C 379C>T SKCM-US 4 39114659 39114659 single base substitution C T missense_variant R429C 1285C>T SKCM-US 4 39114659 39114659 single base substitution C T missense_variant R555C 1663C>T SKCM-US 4 39114659 39114659 single base substitution C T missense_variant R570C 1708C>T SKCM-US 4 39114659 39114659 single base substitution C T missense_variant R616C 1846C>T STAD-US 4 39064525 39064525 single base substitution G A intron_variant STAD-US 4 39064525 39064525 single base substitution G A missense_variant A131T 391G>A STAD-US 4 39064525 39064525 single base substitution G A missense_variant A85T 253G>A STAD-US 4 39064525 39064525 single base substitution G A upstream_gene_variant STAD-US 4 39077615 39077615 single base substitution C A 3_prime_UTR_variant STAD-US 4 39077615 39077615 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 4 39077615 39077615 single base substitution C A intron_variant STAD-US 4 39077615 39077615 single base substitution C A synonymous_variant S138S 414C>A STAD-US 4 39077615 39077615 single base substitution C A synonymous_variant S184S 552C>A STAD-US 4 39083781 39083781 single base substitution T C downstream_gene_variant STAD-US 4 39083781 39083781 single base substitution T C splice_donor_variant STAD-US 4 39088222 39088222 single base substitution A T missense_variant N189Y 565A>T STAD-US 4 39088222 39088222 single base substitution A T missense_variant N315Y 943A>T STAD-US 4 39088222 39088222 single base substitution A T missense_variant N330Y 988A>T STAD-US 4 39088222 39088222 single base substitution A T missense_variant N376Y 1126A>T STAD-US 4 39104951 39104951 single base substitution A G missense_variant T308A 922A>G STAD-US 4 39104951 39104951 single base substitution A G missense_variant T434A 1300A>G STAD-US 4 39104951 39104951 single base substitution A G missense_variant T449A 1345A>G STAD-US 4 39104951 39104951 single base substitution A G missense_variant T495A 1483A>G STAD-US 4 39104951 39104951 single base substitution A G missense_variant T6A 16A>G STAD-US 4 39109197 39109197 single base substitution G A missense_variant V371I 1111G>A STAD-US 4 39109197 39109197 single base substitution G A missense_variant V497I 1489G>A STAD-US 4 39109197 39109197 single base substitution G A missense_variant V512I 1534G>A STAD-US 4 39109197 39109197 single base substitution G A missense_variant V558I 1672G>A STAD-US 4 39109197 39109197 single base substitution G A missense_variant V69I 205G>A STAD-US 4 39116879 39116879 deletion of <=200bp G - frameshift_variant G225 STAD-US 4 39116879 39116879 deletion of <=200bp G - frameshift_variant G527 STAD-US 4 39116879 39116879 deletion of <=200bp G - frameshift_variant G653 STAD-US 4 39116879 39116879 deletion of <=200bp G - frameshift_variant G668 STAD-US 4 39116879 39116879 deletion of <=200bp G - frameshift_variant G714 UCEC-US 4 39064158 39064158 single base substitution A G intron_variant UCEC-US 4 39064158 39064158 single base substitution A G synonymous_variant L8L 24A>G UCEC-US 4 39064158 39064158 single base substitution A G upstream_gene_variant UCEC-US 4 39064252 39064252 single base substitution G A 5_prime_UTR_variant UCEC-US 4 39064252 39064252 single base substitution G A intron_variant UCEC-US 4 39064252 39064252 single base substitution G A missense_variant D40N 118G>A UCEC-US 4 39064252 39064252 single base substitution G A upstream_gene_variant UCEC-US 4 39064614 39064614 single base substitution C T exon_variant UCEC-US 4 39064614 39064614 single base substitution C T intron_variant UCEC-US 4 39064614 39064614 single base substitution C T synonymous_variant G114G 342C>T UCEC-US 4 39064614 39064614 single base substitution C T synonymous_variant G160G 480C>T UCEC-US 4 39082796 39082796 single base substitution G T 3_prime_UTR_variant UCEC-US 4 39082796 39082796 single base substitution G T stop_gained E199* 595G>T UCEC-US 4 39082796 39082796 single base substitution G T stop_gained E214* 640G>T UCEC-US 4 39082796 39082796 single base substitution G T stop_gained E260* 778G>T UCEC-US 4 39082796 39082796 single base substitution G T stop_gained E73* 217G>T UCEC-US 4 39083717 39083717 single base substitution C T downstream_gene_variant UCEC-US 4 39083717 39083717 single base substitution C T missense_variant R139C 415C>T UCEC-US 4 39083717 39083717 single base substitution C T missense_variant R265C 793C>T UCEC-US 4 39083717 39083717 single base substitution C T missense_variant R280C 838C>T UCEC-US 4 39083717 39083717 single base substitution C T missense_variant R326C 976C>T UCEC-US 4 39088137 39088137 single base substitution G A splice_region_variant UCEC-US 4 39088217 39088217 single base substitution A G missense_variant D187G 560A>G UCEC-US 4 39088217 39088217 single base substitution A G missense_variant D313G 938A>G UCEC-US 4 39088217 39088217 single base substitution A G missense_variant D328G 983A>G UCEC-US 4 39088217 39088217 single base substitution A G missense_variant D374G 1121A>G UCEC-US 4 39114672 39114672 single base substitution C A missense_variant S131Y 392C>A UCEC-US 4 39114672 39114672 single base substitution C A missense_variant S433Y 1298C>A UCEC-US 4 39114672 39114672 single base substitution C A missense_variant S559Y 1676C>A UCEC-US 4 39114672 39114672 single base substitution C A missense_variant S574Y 1721C>A UCEC-US 4 39114672 39114672 single base substitution C A missense_variant S620Y 1859C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CM-4743-01 COSM1429601 c.2103delG p.V703fs*41 Deletion - Frameshift 4:39115222-39115222 + TCGA-37-4135-01 COSM733521 c.51A>G p.A17A Substitution - coding silent 4:39062565-39062565 + CHEWS007 COSM4585065 c.1303C>T p.Q435* Substitution - Nonsense 4:39096743-39096743 + TCGA-D3-A5GO-06 COSM3603564 c.1093G>A p.E365K Substitution - Missense 4:39086569-39086569 + BD59T COSM5498534 c.2265C>T p.F755F Substitution - coding silent 4:39115384-39115384 + TCGA-AA-A00N-01 COSM187335 c.976C>T p.R326C Substitution - Missense 4:39082097-39082097 + Pat_41_B COSM5866366 c.1678G>A p.E560K Substitution - Missense 4:39107583-39107583 + TCGA-F4-6570-01 COSM1429593 c.603T>G p.N201K Substitution - Missense 4:39076046-39076046 + 8044856 COSM3393053 c.1811C>T p.A604V Substitution - Missense 4:39107716-39107716 + T3091 COSM4696578 c.649A>G p.K217E Substitution - Missense 4:39076092-39076092 + TCGA-D3-A51R-06 COSM3603559 c.522G>A p.R174R Substitution - coding silent 4:39075965-39075965 + TCGA-A2-A3XT-01 COSM3825812 c.1442C>A p.A481E Substitution - Missense 4:39103290-39103290 + CCK81 COSM2846506 c.2157G>T p.Q719H Substitution - Missense 4:39115276-39115276 + TCGA-EI-6917-01 COSM187335 c.976C>T p.R326C Substitution - Missense 4:39082097-39082097 + TCGA-AN-A046-01 COSM3825809 c.859G>T p.E287* Substitution - Nonsense 4:39081980-39081980 + pfg143T COSM4753235 c.961A>G p.N321D Substitution - Missense 4:39082082-39082082 + TCGA-AA-3510-01 COSM1429595 c.1258G>A p.A420T Substitution - Missense 4:39096698-39096698 + YULAN COSM1694246 c.2048C>T p.P683L Substitution - Missense 4:39115167-39115167 + ESCC_BICR_007T COSM5434151 c.128T>C p.V43A Substitution - Missense 4:39062642-39062642 + T368 COSM266793 c.622delA p.M210fs*5 Deletion - Frameshift 4:39076065-39076065 + 6115250 COSM5549918 c.1494A>T p.A498A Substitution - coding silent 4:39103342-39103342 + TCGA-AM-5820-01 COSM3696640 c.238A>G p.S80G Substitution - Missense 4:39062752-39062752 + BCB157T COSM4949934 c.845G>A p.R282H Substitution - Missense 4:39081966-39081966 + ESCC_BICR_007T COSM5434153 c.128T>C p.V43A Substitution - Missense 4:39062642-39062642 + TCGA-CA-6718-01 COSM1429592 c.573T>C p.C191C Substitution - coding silent 4:39076016-39076016 + BN02 COSM3661081 c.1013A>G p.H338R Substitution - Missense 4:39082134-39082134 + QC2-39-T2 COSM5655481 c.1565G>A p.R522K Substitution - Missense 4:39103413-39103413 + BN02 COSM1618795 c.1013A>G p.H338R Substitution - Missense 4:39082134-39082134 + 2T COSM3733658 c.1231C>A p.L411I Substitution - Missense 4:39086707-39086707 + TCGA-BR-6452-01 COSM4124556 c.1038+2T>C p.? Unknown 4:39082161-39082161 + Pat_05_A COSM3974897 c.1174C>T p.R392C Substitution - Missense 4:39086650-39086650 + LP2000331-DNA_A01 COSM5200976 c.344G>A p.R115Q Substitution - Missense 4:39062858-39062858 + BCB157T COSM4949932 c.845G>A p.R282H Substitution - Missense 4:39081966-39081966 + TCGA-CM-5864-01 COSM1429599 c.1814T>C p.V605A Substitution - Missense 4:39107719-39107719 + AOCS-088-3-8 COSM4135767 c.1469G>A p.R490H Substitution - Missense 4:39103317-39103317 + TCGA-EE-A182-06 COSM3603556 c.503C>T p.S168F Substitution - Missense 4:39063017-39063017 + 08-P1004 COSM4585073 c.2121T>A p.G707G Substitution - coding silent 4:39115240-39115240 + WSU-HN30 COSM4600469 c.855A>T p.L285F Substitution - Missense 4:39081976-39081976 + BD142T COSM5507602 c.1610A>C p.K537T Substitution - Missense 4:39103458-39103458 + PT14_1 COSM5896738 c.982T>A p.F328I Substitution - Missense 4:39082103-39082103 + TCGA-CG-5728-01 COSM4124564 c.1483A>G p.T495A Substitution - Missense 4:39103331-39103331 + C086 COSM5533482 c.809C>T p.S270L Substitution - Missense 4:39081207-39081207 + T3064 COSM4696575 c.576A>G p.T192T Substitution - coding silent 4:39076019-39076019 + TCGA-EE-A2GR-06 COSM3603567 c.1468C>T p.R490C Substitution - Missense 4:39103316-39103316 + sysucc-834T COSM4458066 c.106C>T p.R36C Substitution - Missense 4:39062620-39062620 + LUAD-YINHD COSM351019 c.1843G>T p.G615C Substitution - Missense 4:39113036-39113036 + TCGA-G4-6304-01 COSM5175818 c.479G>A p.G160D Substitution - Missense 4:39062993-39062993 + CHEWS027 COSM4585068 c.2006A>G p.N669S Substitution - Missense 4:39113199-39113199 + 6115118 COSM5548735 c.595G>A p.A199T Substitution - Missense 4:39076038-39076038 + CSCC-16-T COSM4486410 c.304C>T p.P102S Substitution - Missense 4:39062818-39062818 + HCC118T COSM5813765 c.995A>T p.Q332L Substitution - Missense 4:39082116-39082116 + TCGA-JX-A3Q0-01 COSM4824408 c.1487C>T p.P496L Substitution - Missense 4:39103335-39103335 + 587376 COSM1212679 c.1745A>G p.D582G Substitution - Missense 4:39107650-39107650 + TCGA-AP-A0LM-01 COSM1055187 c.1041G>A p.E347E Substitution - coding silent 4:39086517-39086517 + BD142T COSM5507600 c.1610A>C p.K537T Substitution - Missense 4:39103458-39103458 + PD5947a COSM5781623 c.1024C>G p.H342D Substitution - Missense 4:39082145-39082145 + TCGA-CG-4306-01 COSM4124555 c.552C>A p.S184S Substitution - coding silent 4:39075995-39075995 + ESCC_101 COSM5637970 c.2173G>A p.V725M Substitution - Missense 4:39115292-39115292 + TCGA-06-5410-01 COSM3409278 c.2049C>G p.P683P Substitution - coding silent 4:39115168-39115168 + TCGA-ER-A195-06 COSM3603568 c.1846C>T p.R616C Substitution - Missense 4:39113039-39113039 + BCB157T COSM4949932 c.845G>A p.R282H Substitution - Missense 4:39081966-39081966 + TCGA-CG-5728-01 COSM4124562 c.1483A>G p.T495A Substitution - Missense 4:39103331-39103331 + TCGA-F4-6570-01 COSM5172204 c.603T>G p.N201K Substitution - Missense 4:39076046-39076046 + CHEWS027 COSM4585070 c.2006A>G p.N669S Substitution - Missense 4:39113199-39113199 + Pat_05_A COSM3974895 c.1174C>T p.R392C Substitution - Missense 4:39086650-39086650 + 6115118 COSM5548737 c.595G>A p.A199T Substitution - Missense 4:39076038-39076038 + B78-Tumor COSM4005763 c.1039-2A>T p.? Unknown 4:39086513-39086513 + TCGA-FW-A3R5-06 COSM3917736 c.818C>T p.S273F Substitution - Missense 4:39081216-39081216 + sysucc-325T COSM5461272 c.442G>A p.G148S Substitution - Missense 4:39062956-39062956 + LP2000331-DNA_A01 COSM171621 c.344G>A p.R115Q Substitution - Missense 4:39062858-39062858 + TCGA-D1-A17F-01 COSM1055185 c.480C>T p.G160G Substitution - coding silent 4:39062994-39062994 + TCGA-D3-A51R-06 COSM3603557 c.522G>A p.R174R Substitution - coding silent 4:39075965-39075965 + TCGA-A2-A3XT-01 COSM3825814 c.1442C>A p.A481E Substitution - Missense 4:39103290-39103290 + 8044856 COSM1157828 c.1811C>T p.A604V Substitution - Missense 4:39107716-39107716 + Au10 COSM3428487 c.976C>T p.R326C Substitution - Missense 4:39082097-39082097 + I2L-P7-Tumor-Organoid COSM5355758 c.1981delG p.H663fs*8 Deletion - Frameshift 4:39113174-39113174 + PT14_1 COSM5896740 c.982T>A p.F328I Substitution - Missense 4:39082103-39082103 + TCGA-G4-6303-01 COSM1055184 c.118G>A p.D40N Substitution - Missense 4:39062632-39062632 + PTC-14C COSM4159058 c.226T>A p.S76T Substitution - Missense 4:39062740-39062740 + CSCC-41-T COSM4470828 c.1684C>T p.P562S Substitution - Missense 4:39107589-39107589 + TCGA-Q1-A73O-01 COSM4835862 c.1117G>A p.D373N Substitution - Missense 4:39086593-39086593 + LUAD-F00162 COSM366461 c.2137G>T p.V713F Substitution - Missense 4:39115256-39115256 + T2269 COSM4696581 c.1458G>A p.K486K Substitution - coding silent 4:39103306-39103306 + PACA104 COSM1157828 c.1811C>T p.A604V Substitution - Missense 4:39107716-39107716 + TCGA-CG-4306-01 COSM4124553 c.552C>A p.S184S Substitution - coding silent 4:39075995-39075995 + ESCC-243T COSM3940868 c.188G>C p.R63T Substitution - Missense 4:39062702-39062702 + S02241 COSM5676883 c.783A>G p.I261M Substitution - Missense 4:39081181-39081181 + BN02T COSM1618795 c.1013A>G p.H338R Substitution - Missense 4:39082134-39082134 + TCGA-CA-6717-01 COSM1429596 c.1285C>T p.R429W Substitution - Missense 4:39096725-39096725 + TCGA-CA-6718-01 COSM5145198 c.573T>C p.C191C Substitution - coding silent 4:39076016-39076016 + TCGA-AA-3510-01 COSM5099748 c.1258G>A p.A420T Substitution - Missense 4:39096698-39096698 + TCGA-B0-4837-01 COSM3365619 c.2180C>T p.A727V Substitution - Missense 4:39115299-39115299 + CHC1725T COSM325642 c.475G>A p.D159N Substitution - Missense 4:39062989-39062989 + T2269 COSM4696583 c.1458G>A p.K486K Substitution - coding silent 4:39103306-39103306 + B112-Tumor COSM4005760 c.778G>A p.E260K Substitution - Missense 4:39081176-39081176 + TCGA-JX-A3Q0-01 COSM4824533 c.676G>A p.A226T Substitution - Missense 4:39076119-39076119 + 587376 COSM1212677 c.149C>A p.S50Y Substitution - Missense 4:39062663-39062663 + T3262 COSM4696584 c.1994C>A p.A665D Substitution - Missense 4:39113187-39113187 + CSCC-54-T COSM4460355 c.1162C>T p.L388F Substitution - Missense 4:39086638-39086638 + TCGA-ER-A195-06 COSM3603570 c.1846C>T p.R616C Substitution - Missense 4:39113039-39113039 + AOCS-145-1-6 COSM4135762 c.1450A>C p.I484L Substitution - Missense 4:39103298-39103298 + T3262 COSM4696586 c.1994C>A p.A665D Substitution - Missense 4:39113187-39113187 + ESO-805 COSM1256001 c.1175G>A p.R392H Substitution - Missense 4:39086651-39086651 + TCGA-CA-6717-01 COSM5829912 c.1336T>G p.L446V Substitution - Missense 4:39096776-39096776 + TCGA-DK-A2I4-01 COSM3775823 c.2064G>A p.W688* Substitution - Nonsense 4:39115183-39115183 + TCGA-Q1-A73O-01 COSM4835860 c.1117G>A p.D373N Substitution - Missense 4:39086593-39086593 + TCGA-HT-7620-01 COSM3974897 c.1174C>T p.R392C Substitution - Missense 4:39086650-39086650 + CHC1725T COSM4800865 c.475G>A p.D159N Substitution - Missense 4:39062989-39062989 + 587284 COSM1212676 c.1930A>G p.R644G Substitution - Missense 4:39113123-39113123 + 587284 COSM1212675 c.513T>G p.S171R Substitution - Missense 4:39063027-39063027 + TCGA-EE-A29V-06 COSM3603562 c.912G>A p.Q304Q Substitution - coding silent 4:39082033-39082033 + RK120_C01 COSM3702588 c.661G>T p.D221Y Substitution - Missense 4:39076104-39076104 + CSCC-27-T COSM4458066 c.106C>T p.R36C Substitution - Missense 4:39062620-39062620 + 391 COSM4427962 c.1757G>A p.R586H Substitution - Missense 4:39107662-39107662 + C086 COSM5533480 c.809C>T p.S270L Substitution - Missense 4:39081207-39081207 + TCGA-BR-6452-01 COSM4124550 c.391G>A p.A131T Substitution - Missense 4:39062905-39062905 + TCGA-CG-5733-01 COSM4124565 c.1672G>A p.V558I Substitution - Missense 4:39107577-39107577 + TCGA-EE-A2GR-06 COSM3603565 c.1468C>T p.R490C Substitution - Missense 4:39103316-39103316 + tumor_4159170 COSM1161491 c.1047C>T p.F349F Substitution - coding silent 4:39086523-39086523 + TCGA-B5-A11E-01 COSM1055183 c.24A>G p.L8L Substitution - coding silent 4:39062538-39062538 + TCGA-B5-A11E-01 COSM1055188 c.1121A>G p.D374G Substitution - Missense 4:39086597-39086597 + TCGA-JX-A3Q0-01 COSM4824406 c.1487C>T p.P496L Substitution - Missense 4:39103335-39103335 + 585208 COSM325642 c.475G>A p.D159N Substitution - Missense 4:39062989-39062989 + HN_0-046 COSM124008 c.1433C>G p.T478R Substitution - Missense 4:39096873-39096873 + T3079 COSM4332477 c.107G>A p.R36H Substitution - Missense 4:39062621-39062621 + CHC1725T COSM325642 c.475G>A p.D159N Substitution - Missense 4:39062989-39062989 + LUAD-F00368 COSM341389 c.1438+1G>T p.? Unknown 4:39096879-39096879 + AOCS-088-3-8 COSM4135765 c.1469G>A p.R490H Substitution - Missense 4:39103317-39103317 + PDA_011 COSM4427962 c.1757G>A p.R586H Substitution - Missense 4:39107662-39107662 + TCGA-CM-5864-01 COSM5158581 c.1814T>C p.V605A Substitution - Missense 4:39107719-39107719 + CSCC-54-T COSM4460353 c.1162C>T p.L388F Substitution - Missense 4:39086638-39086638 + pfg143T COSM4753237 c.961A>G p.N321D Substitution - Missense 4:39082082-39082082 + TCGA-BR-6452-01 COSM4124558 c.1038+2T>C p.? Unknown 4:39082161-39082161 + ATL024 COSM5709230 c.1721A>G p.Y574C Substitution - Missense 4:39107626-39107626 + HCC049T COSM5812024 c.127G>T p.V43F Substitution - Missense 4:39062641-39062641 + TCGA-A6-5665-01 COSM1429597 c.1292A>G p.D431G Substitution - Missense 4:39096732-39096732 + Pat_41_B COSM5866364 c.1678G>A p.E560K Substitution - Missense 4:39107583-39107583 + ESO-081 COSM1243360 c.570A>G p.P190P Substitution - coding silent 4:39076013-39076013 + TCGA-D3-A5GO-06 COSM1212678 c.1093G>A p.E365K Substitution - Missense 4:39086569-39086569 + TCGA-06-0743-01 COSM3409279 c.2143G>A p.G715R Substitution - Missense 4:39115262-39115262 + TCGA-CA-6717-01 COSM1429598 c.1336T>G p.L446V Substitution - Missense 4:39096776-39096776 + ESCC-243T COSM3940870 c.188G>C p.R63T Substitution - Missense 4:39062702-39062702 + TCGA-EE-A29V-06 COSM3603560 c.912G>A p.Q304Q Substitution - coding silent 4:39082033-39082033 + CSCC-16-T COSM4486408 c.304C>T p.P102S Substitution - Missense 4:39062818-39062818 + sysucc-325T COSM5461270 c.442G>A p.G148S Substitution - Missense 4:39062956-39062956 + PD24335a COSM5781339 c.959C>T p.S320F Substitution - Missense 4:39082080-39082080 + 534 COSM5612332 c.1195C>T p.R399W Substitution - Missense 4:39086671-39086671 + TCGA-AP-A056-01 COSM1055191 c.1859C>A p.S620Y Substitution - Missense 4:39113052-39113052 + CSCC-27-T COSM4458064 c.106C>T p.R36C Substitution - Missense 4:39062620-39062620 + 587224 COSM1212674 c.676G>A p.A226T Substitution - Missense 4:39076119-39076119 + TCGA-EI-6917-01 COSM3428487 c.976C>T p.R326C Substitution - Missense 4:39082097-39082097 + HCC049T COSM5812022 c.127G>T p.V43F Substitution - Missense 4:39062641-39062641 + TCGA-FW-A3R5-06 COSM3428487 c.976C>T p.R326C Substitution - Missense 4:39082097-39082097 + 391 COSM4427960 c.1757G>A p.R586H Substitution - Missense 4:39107662-39107662 + ATL024 COSM5709228 c.1721A>G p.Y574C Substitution - Missense 4:39107626-39107626 + CLN2 COSM5024774 c.1657G>T p.G553C Substitution - Missense 4:39103505-39103505 + CHC1725T COSM4800865 c.475G>A p.D159N Substitution - Missense 4:39062989-39062989 + BD165T COSM5506158 c.2243_2244delCT p.L751fs*>7 Deletion - Frameshift 4:39115362-39115363 + HCC118T COSM5813763 c.995A>T p.Q332L Substitution - Missense 4:39082116-39082116 + TCGA-CZ-4863-01 COSM481240 c.976C>G p.R326G Substitution - Missense 4:39082097-39082097 + TCGA-CH-5772-01 COSM1131128 c.486T>G p.S162R Substitution - Missense 4:39063000-39063000 + TCGA-DK-A2I4-01 COSM3775825 c.2064G>A p.W688* Substitution - Nonsense 4:39115183-39115183 + 08-P1004 COSM4585071 c.2121T>A p.G707G Substitution - coding silent 4:39115240-39115240 + 2P3 COSM3733658 c.1231C>A p.L411I Substitution - Missense 4:39086707-39086707 + B112-Tumor COSM1753720 c.778G>A p.E260K Substitution - Missense 4:39081176-39081176 + PDA_011 COSM4427960 c.1757G>A p.R586H Substitution - Missense 4:39107662-39107662 + TCGA-JX-A3Q0-01 COSM1212674 c.676G>A p.A226T Substitution - Missense 4:39076119-39076119 + TCGA-AM-5820-01 COSM3760618 c.2172T>C p.T724T Substitution - coding silent 4:39115291-39115291 + 587226 COSM1212673 c.1252-2A>G p.? Unknown 4:39096690-39096690 + 2P3 COSM3733656 c.1231C>A p.L411I Substitution - Missense 4:39086707-39086707 + TCGA-G4-6304-01 COSM1429591 c.479G>A p.G160D Substitution - Missense 4:39062993-39062993 + TCGA-BS-A0TJ-01 COSM1055190 c.1566A>C p.R522S Substitution - Missense 4:39103414-39103414 + I2L-P7-Tumor-Organoid COSM5355760 c.1981delG p.H663fs*8 Deletion - Frameshift 4:39113174-39113174 + I2L-P7-Tumor-Organoid COSM5356140 c.1278A>G p.V426V Substitution - coding silent 4:39096718-39096718 + TCGA-66-2768-01 COSM733519 c.901C>T p.Q301* Substitution - Nonsense 4:39082022-39082022 + TCGA-A5-A0GP-01 COSM187335 c.976C>T p.R326C Substitution - Missense 4:39082097-39082097 + CSCC-41-T COSM4470830 c.1684C>T p.P562S Substitution - Missense 4:39107589-39107589 + T3064 COSM4696573 c.576A>G p.T192T Substitution - coding silent 4:39076019-39076019 + TCGA-BR-6452-01 COSM4124552 c.391G>A p.A131T Substitution - Missense 4:39062905-39062905 + TCGA-39-5031-01 COSM733518 c.2240G>A p.G747E Substitution - Missense 4:39121038-39121038 + TCGA-FW-A3R5-06 COSM187335 c.976C>T p.R326C Substitution - Missense 4:39082097-39082097 + Pat_60_B COSM2846495 c.1352G>A p.R451Q Substitution - Missense 4:39096792-39096792 + TCGA-AA-3672-01 COSM266793 c.622delA p.M210fs*5 Deletion - Frameshift 4:39076065-39076065 + 145T COSM1725719 c.503C>G p.S168C Substitution - Missense 4:39063017-39063017 + T3079 COSM2846466 c.107G>A p.R36H Substitution - Missense 4:39062621-39062621 + TCGA-A6-5665-01 COSM1429602 c.2139_2140insG p.Y716fs*2 Insertion - Frameshift 4:39115258-39115259 + B78-Tumor COSM4005761 c.1039-2A>T p.? Unknown 4:39086513-39086513 + TCGA-B0-4837-01 COSM3365621 c.2180C>T p.A727V Substitution - Missense 4:39115299-39115299 + PD24335a COSM5781341 c.959C>T p.S320F Substitution - Missense 4:39082080-39082080 + BCB157T COSM4949934 c.845G>A p.R282H Substitution - Missense 4:39081966-39081966 + TCGA-CG-5733-01 COSM4124567 c.1672G>A p.V558I Substitution - Missense 4:39107577-39107577 + P04-1243 COSM245322 c.1754C>A p.A585D Substitution - Missense 4:39107659-39107659 + TCGA-G9-6351-01 COSM3674174 c.1998C>A p.P666P Substitution - coding silent 4:39113191-39113191 + 2T COSM3733656 c.1231C>A p.L411I Substitution - Missense 4:39086707-39086707 + NB-3264 COSM1285806 c.1813G>A p.V605I Substitution - Missense 4:39107718-39107718 + TCGA-AZ-6601-01 COSM4332544 c.1196G>A p.R399Q Substitution - Missense 4:39086672-39086672 + Au10 COSM187335 c.976C>T p.R326C Substitution - Missense 4:39082097-39082097 + 534 COSM5612330 c.1195C>T p.R399W Substitution - Missense 4:39086671-39086671 + RK170_C01 COSM1633673 c.2042A>G p.Y681C Substitution - Missense 4:39115161-39115161 + 61 COSM5736935 c.1550A>G p.Y517C Substitution - Missense 4:39103398-39103398 + TCGA-CA-6717-01 COSM5829910 c.1285C>T p.R429W Substitution - Missense 4:39096725-39096725 + GHE0609 COSM5714211 c.2150A>C p.D717A Substitution - Missense 4:39115269-39115269 + TCGA-CM-4743-01 COSM5156016 c.2103delG p.V703fs*45 Deletion - Frameshift 4:39115222-39115222 + ESCC_101 COSM5637972 c.2173G>A p.V725M Substitution - Missense 4:39115292-39115292 + PD5947a COSM5781625 c.1024C>G p.H342D Substitution - Missense 4:39082145-39082145 + sysucc-834T COSM4458064 c.106C>T p.R36C Substitution - Missense 4:39062620-39062620 + TCGA-AP-A056-01 COSM1055186 c.778G>T p.E260* Substitution - Nonsense 4:39081176-39081176 + TCGA-AM-5820-01 COSM3760616 c.2172T>C p.T724T Substitution - coding silent 4:39115291-39115291 + TCGA-85-6560-01 COSM733520 c.810G>A p.S270S Substitution - coding silent 4:39081208-39081208 + CHEWS007 COSM4585067 c.1303C>T p.Q435* Substitution - Nonsense 4:39096743-39096743 + TCGA-HT-7620-01 COSM3974895 c.1174C>T p.R392C Substitution - Missense 4:39086650-39086650 + WSU-HN30 COSM4600471 c.855A>T p.L285F Substitution - Missense 4:39081976-39081976 + TCGA-G4-6303-01 COSM5175210 c.118G>A p.D40N Substitution - Missense 4:39062632-39062632 + TCGA-CH-5739-01 COSM3674170 c.1789C>A p.P597T Substitution - Missense 4:39107694-39107694 + Pat_60_B COSM4332550 c.1352G>A p.R451Q Substitution - Missense 4:39096792-39096792 + CCK81 COSM4332572 c.2157G>T p.Q719H Substitution - Missense 4:39115276-39115276 + B112 COSM1753720 c.778G>A p.E260K Substitution - Missense 4:39081176-39081176 + LUAD-RT-S01700 COSM378775 c.1417G>T p.G473W Substitution - Missense 4:39096857-39096857 + TCGA-AZ-6601-01 COSM1429594 c.1196G>A p.R399Q Substitution - Missense 4:39086672-39086672 + YUDEDE COSM1694247 c.2171_2172CT>TC p.T724I Substitution - Missense 4:39115290-39115291 + AOCS-145-1-6 COSM4135764 c.1450A>C p.I484L Substitution - Missense 4:39103298-39103298 + TCGA-EE-A182-06 COSM3603554 c.503C>T p.S168F Substitution - Missense 4:39063017-39063017 + TCGA-CH-5739-01 COSM3674172 c.1789C>A p.P597T Substitution - Missense 4:39107694-39107694 + GHE0609 COSM5714213 c.2150A>C p.D717A Substitution - Missense 4:39115269-39115269 + TCGA-AA-A010-01 COSM282287 c.1829delT p.Y611fs*15 Deletion - Frameshift 4:39113022-39113022 + I2L-P7-Tumor-Organoid COSM5356138 c.1278A>G p.V426V Substitution - coding silent 4:39096718-39096718 + TCGA-G9-6351-01 COSM587229 c.1998C>A p.P666P Substitution - coding silent 4:39113191-39113191 + TCGA-D8-A27T-01 COSM5226909 c.2025A>G p.S675S Substitution - coding silent 4:39113218-39113218 + TCGA-DI-A0WH-01 COSM1055189 c.1402A>G p.T468A Substitution - Missense 4:39096842-39096842 + CLN2 COSM5024772 c.1657G>T p.G553C Substitution - Missense 4:39103505-39103505 + TCGA-FW-A3R5-06 COSM3917738 c.818C>T p.S273F Substitution - Missense 4:39081216-39081216 + TCGA-A6-5665-01 COSM5090167 c.1292A>G p.D431G Substitution - Missense 4:39096732-39096732 + TCGA-AP-A056-01 COSM1055184 c.118G>A p.D40N Substitution - Missense 4:39062632-39062632 + TCGA-06-0743-01 COSM3409281 c.2143G>A p.G715R Substitution - Missense 4:39115262-39115262 + TCGA-A6-5665-01 COSM5089463 c.2139_2140insG p.Y716fs*2 Insertion - Frameshift 4:39115258-39115259 + RK120_C01 COSM3702586 c.661G>T p.D221Y Substitution - Missense 4:39076104-39076104 + T3091 COSM4696580 c.649A>G p.K217E Substitution - Missense 4:39076092-39076092 + PTC-14C COSM4159060 c.226T>A p.S76T Substitution - Missense 4:39062740-39062740 + 587376 COSM1212678 c.1093G>A p.E365K Substitution - Missense 4:39086569-39086569 + TCGA-AA-A010-01 COSM187335 c.976C>T p.R326C Substitution - Missense 4:39082097-39082097 + 61 COSM5736937 c.1550A>G p.Y517C Substitution - Missense 4:39103398-39103398 + 6115250 COSM5549916 c.1494A>T p.A498A Substitution - coding silent 4:39103342-39103342 + TCGA-AN-A046-01 COSM3825811 c.859G>T p.E287* Substitution - Nonsense 4:39081980-39081980 + QC2-39-T2 COSM5655483 c.1565G>A p.R522K Substitution - Missense 4:39103413-39103413 + TCGA-BR-8367-01 COSM4124559 c.1126A>T p.N376Y Substitution - Missense 4:39086602-39086602 + TCGA-BR-8367-01 COSM4124561 c.1126A>T p.N376Y Substitution - Missense 4:39086602-39086602 + TCGA-D8-A27T-01 COSM1485944 c.2025A>G p.S675S Substitution - coding silent 4:39113218-39113218 + TCGA-13-0730-01 COSM77977 c.1952C>T p.T651M Substitution - Missense 4:39113145-39113145 + TCGA-AM-5820-01 COSM3696642 c.238A>G p.S80G Substitution - Missense 4:39062752-39062752 + TCGA-06-5410-01 COSM3409276 c.2049C>G p.P683P Substitution - coding silent 4:39115168-39115168 + S02241 COSM5676881 c.783A>G p.I261M Substitution - Missense 4:39081181-39081181 + T368 COSM4696577 c.622delA p.M210fs*5 Deletion - Frameshift 4:39076065-39076065 + ME032T COSM227247 c.286G>A p.G96R Substitution - Missense 4:39062800-39062800 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.272234;Hs.272251 4p14 608064

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.T495A c.1483A>G 4 39104951 STAD A G Synonymous p.A17A c.51A>G 4 39064185 LUSC A G Synonymous p.S675S c.2025A>G 4 39114838 BRCA C A Missense p.L300I c.898C>A 4 39083639 CM C A Synonymous p.S184S c.552C>A 4 39077615 STAD C G Missense p.A748G c.2243C>G 4 39122661 HNSC C G Missense p.R326G c.976C>G 4 39083717 RCCC C G Missense p.T478R c.1433C>G 4 39098493 HNSC C G Missense p.T538R c.1613C>G 4 39105081 CM C G Synonymous p.P683P c.2049C>G 4 39116788 GBM C T IntronicSNV . c.1439-2389C>T 4 39102518 PIA C T IntronicSNV . c.2211+533C>T 4 39117483 HC C T IntronicSNV . c.2211+85C>T 4 39117035 CM C T Missense p.A727V c.2180C>T 4 39116919 RCCC C T Missense p.R326C c.976C>T 4 39083717 UCEC C T Missense p.R392C c.1174C>T 4 39088270 LGG C T Missense p.R490C c.1468C>T 4 39104936 CM C T Missense p.R616C c.1846C>T 4 39114659 CM C T Missense p.S168F c.503C>T 4 39064637 CM C T Missense p.T651M c.1952C>T 4 39114765 OV C T Nonsense p.Q301* c.901C>T 4 39083642 LUSC C T Synonymous p.F349F c.1047C>T 4 39088143 DLBCL C T Synonymous p.G160G c.480C>T 4 39064614 UCEC G A IntronicSNV . c.1827-68G>A 4 39114572 CM G A Missense p.D159N c.475G>A 4 39064609 SCLC G A Missense p.G715R c.2143G>A 4 39116882 GBM G A Missense p.G747E c.2240G>A 4 39122658 LUSC G A Missense p.G92E c.275G>A 4 39064409 CM G A Missense p.R115Q c.344G>A 4 39064478 BRCA G A Missense p.R392H c.1175G>A 4 39088271 ESCA G A Missense p.V558I c.1672G>A 4 39109197 STAD G A Missense p.V605I c.1813G>A 4 39109338 NB G A Nonsense p.W688* c.2064G>A 4 39116803 BLCA G A Synonymous p.Q304Q c.912G>A 4 39083653 CM G A Synonymous p.S270S c.810G>A 4 39082828 LUSC G A Synonymous p.T651T c.1953G>A 4 39114766 AML G C IntronicSNV . c.1439-68G>C 4 39104839 NSCLC G C Missense p.G148R c.442G>C 4 39064576 LUAD G C SpliceAcceptorSNV . c.705-1G>C 4 39082722 LUAD G - Frameshift p.A604Qfs*3 c.1810delG 4 39109334 LUAD G T Missense p.G718V c.2153G>T 4 39116892 LUAD G T Missense p.M442I c.1326G>T 4 39098386 COREAD T C Synonymous p.L446L c.1336T>C 4 39098396 CM T G Missense p.S162R c.486T>G 4 39064620 PRAD