Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 37941415 37941415 + Silent SNP C C G TCGA-PK-A5H8-01A-11D-A29I-10 TCGA-PK-A5H8-10A-01D-A29L-10 g.chr1:37941415C>G c.318C>G c.(316-318)ctC>ctG p.L106L BLCA 1 37941116 37941116 + Missense_Mutation SNP G G C TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr1:37941116G>C c.19G>C c.(19-21)Gag>Cag p.E7Q BLCA 1 37941228 37941228 + Missense_Mutation SNP C C T TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr1:37941228C>T c.131C>T c.(130-132)tCg>tTg p.S44L BLCA 1 37941247 37941247 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr1:37941247G>T c.150G>T c.(148-150)atG>atT p.M50I BLCA 1 37941262 37941262 + Silent SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:37941262C>T c.165C>T c.(163-165)ttC>ttT p.F55F BLCA 1 37945897 37945897 + Silent SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 g.chr1:37945897G>T c.450G>T c.(448-450)ggG>ggT p.G150G BLCA 1 37945923 37945923 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 g.chr1:37945923G>A c.476G>A c.(475-477)gGc>gAc p.G159D BLCA 1 37946006 37946006 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 g.chr1:37946006C>T c.559C>T c.(559-561)Cct>Tct p.P187S BLCA 1 37947335 37947335 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr1:37947335C>T c.717C>T c.(715-717)atC>atT p.I239I BLCA 1 37947376 37947376 + Missense_Mutation SNP G G C TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr1:37947376G>C c.758G>C c.(757-759)cGg>cCg p.R253P BLCA 1 37947425 37947425 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr1:37947425C>T c.807C>T c.(805-807)ttC>ttT p.F269F BLCA 1 37948444 37948445 + Frame_Shift_Ins INS - - C TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr1:37948444_37948445insC c.1032_1033insC c.(1033-1035)cccfs p.P345fs BLCA 1 37948757 37948757 + Missense_Mutation SNP G G C TCGA-GD-A76B-01A-11D-A32B-08 TCGA-GD-A76B-10A-01D-A329-08 g.chr1:37948757G>C c.1345G>C c.(1345-1347)Gaa>Caa p.E449Q BLCA 1 37949105 37949105 + Missense_Mutation SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr1:37949105C>A c.1693C>A c.(1693-1695)Ccc>Acc p.P565T BRCA 1 37941282 37941282 + Frame_Shift_Del DEL C C - TCGA-A7-A0CD-01A-11W-A019-09 TCGA-A7-A0CD-10A-01W-A021-09 g.chr1:37941282delC c.185delC c.(184-186)tccfs p.S62fs BRCA 1 37947372 37947372 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 g.chr1:37947372G>A c.754G>A c.(754-756)Gag>Aag p.E252K BRCA 1 37948444 37948445 + Frame_Shift_Ins INS - - C TCGA-AO-A0J4-01A-11W-A050-09 TCGA-AO-A0J4-10A-01W-A055-09 g.chr1:37948444_37948445insC c.1032_1033insC c.(1033-1035)cccfs p.P345fs BRCA 1 37948869 37948869 + Missense_Mutation SNP C C G TCGA-E9-A245-01A-22D-A16D-09 TCGA-E9-A245-10A-01D-A16D-09 g.chr1:37948869C>G c.1457C>G c.(1456-1458)gCc>gGc p.A486G BRCA 1 37949123 37949123 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr1:37949123G>A c.1711G>A c.(1711-1713)Gct>Act p.A571T CESC 1 37941279 37941279 + Nonsense_Mutation SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:37941279C>A c.182C>A c.(181-183)tCa>tAa p.S61* CESC 1 37941335 37941335 + Missense_Mutation SNP A A G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr1:37941335A>G c.238A>G c.(238-240)Acg>Gcg p.T80A CESC 1 37945919 37945919 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr1:37945919C>A c.472C>A c.(472-474)Cgg>Agg p.R158R CESC 1 37946015 37946015 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 g.chr1:37946015G>A c.568G>A c.(568-570)Gac>Aac p.D190N CESC 1 37947261 37947261 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 g.chr1:37947261C>T c.643C>T c.(643-645)Cgc>Tgc p.R215C CESC 1 37948736 37948736 + Missense_Mutation SNP T T C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 g.chr1:37948736T>C c.1324T>C c.(1324-1326)Tcc>Ccc p.S442P COAD 1 37941312 37941312 + Missense_Mutation SNP T T G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:37941312T>G c.215T>G c.(214-216)cTg>cGg p.L72R COAD 1 37941324 37941324 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:37941324C>T c.227C>T c.(226-228)gCa>gTa p.A76V COAD 1 37945953 37945953 + Missense_Mutation SNP A A G TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr1:37945953A>G c.506A>G c.(505-507)gAg>gGg p.E169G COAD 1 37945956 37945956 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:37945956delG c.509delG c.(508-510)cggfs p.R170fs COAD 1 37947226 37947228 + In_Frame_Del DEL AGA AGA - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:37947226_37947228delAGA c.608_610delAGA c.(607-612)gagaag>gag p.K206del COAD 1 37947357 37947357 + Missense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr1:37947357C>T c.739C>T c.(739-741)Cgt>Tgt p.R247C COAD 1 37947425 37947425 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:37947425C>T c.807C>T c.(805-807)ttC>ttT p.F269F COAD 1 37948137 37948137 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:37948137C>T c.921C>T c.(919-921)ccC>ccT p.P307P COAD 1 37948649 37948649 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:37948649A>G c.1237A>G c.(1237-1239)Agc>Ggc p.S413G COAD 1 37949003 37949003 + Frame_Shift_Del DEL C C - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:37949003delC c.1591delC c.(1591-1593)cccfs p.P532fs COAD 1 37949075 37949075 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr1:37949075A>G c.1663A>G c.(1663-1665)Agc>Ggc p.S555G COAD 1 37949075 37949075 + Missense_Mutation SNP A A G TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr1:37949075A>G c.1663A>G c.(1663-1665)Agc>Ggc p.S555G COAD 1 37949076 37949076 + Missense_Mutation SNP G G T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:37949076G>T c.1664G>T c.(1663-1665)aGc>aTc p.S555I COAD 1 37949077 37949077 + Silent SNP C C T TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr1:37949077C>T c.1665C>T c.(1663-1665)agC>agT p.S555S COADREAD 1 37941312 37941312 + Missense_Mutation SNP T T G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:37941312T>G c.215T>G c.(214-216)cTg>cGg p.L72R COADREAD 1 37941324 37941324 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:37941324C>T c.227C>T c.(226-228)gCa>gTa p.A76V COADREAD 1 37945953 37945953 + Missense_Mutation SNP A A G TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr1:37945953A>G c.506A>G c.(505-507)gAg>gGg p.E169G COADREAD 1 37945956 37945956 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:37945956delG c.509delG c.(508-510)cggfs p.R170fs COADREAD 1 37947226 37947228 + In_Frame_Del DEL AGA AGA - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:37947226_37947228delAGA c.608_610delAGA c.(607-612)gagaag>gag p.K206del COADREAD 1 37947357 37947357 + Missense_Mutation SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr1:37947357C>T c.739C>T c.(739-741)Cgt>Tgt p.R247C COADREAD 1 37947405 37947405 + Missense_Mutation SNP C C T TCGA-AG-4015-01A-01W-1073-09 TCGA-AG-4015-10A-01W-1073-09 g.chr1:37947405C>T c.787C>T c.(787-789)Cgg>Tgg p.R263W COADREAD 1 37947425 37947425 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:37947425C>T c.807C>T c.(805-807)ttC>ttT p.F269F COADREAD 1 37948137 37948137 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:37948137C>T c.921C>T c.(919-921)ccC>ccT p.P307P COADREAD 1 37948649 37948649 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:37948649A>G c.1237A>G c.(1237-1239)Agc>Ggc p.S413G COADREAD 1 37949003 37949003 + Frame_Shift_Del DEL C C - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:37949003delC c.1591delC c.(1591-1593)cccfs p.P532fs COADREAD 1 37949058 37949058 + Missense_Mutation SNP T T C TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr1:37949058T>C c.1646T>C c.(1645-1647)cTg>cCg p.L549P COADREAD 1 37949075 37949075 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr1:37949075A>G c.1663A>G c.(1663-1665)Agc>Ggc p.S555G COADREAD 1 37949075 37949075 + Missense_Mutation SNP A A G TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr1:37949075A>G c.1663A>G c.(1663-1665)Agc>Ggc p.S555G COADREAD 1 37949076 37949076 + Missense_Mutation SNP G G T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:37949076G>T c.1664G>T c.(1663-1665)aGc>aTc p.S555I COADREAD 1 37949077 37949077 + Silent SNP C C T TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr1:37949077C>T c.1665C>T c.(1663-1665)agC>agT p.S555S DLBC 1 37947259 37947259 + Missense_Mutation SNP G G A TCGA-GS-A9TU-01A-11D-A382-10 TCGA-GS-A9TU-10A-01D-A385-10 g.chr1:37947259G>A c.641G>A c.(640-642)cGa>cAa p.R214Q DLBC 1 37948367 37948367 + Nonsense_Mutation SNP C C T TCGA-FA-A6HO-01A-11D-A31X-10 TCGA-FA-A6HO-10A-01D-A31X-10 g.chr1:37948367C>T c.955C>T c.(955-957)Cga>Tga p.R319* ESCA 1 37947279 37947279 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 g.chr1:37947279G>T c.661G>T c.(661-663)Gtg>Ttg p.V221L ESCA 1 37948688 37948688 + Missense_Mutation SNP G G C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 g.chr1:37948688G>C c.1276G>C c.(1276-1278)Gac>Cac p.D426H GBM 1 37948728 37948728 + Missense_Mutation SNP G G A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 g.chr1:37948728G>A c.1316G>A c.(1315-1317)gGc>gAc p.G439D GBM 1 37948876 37948876 + Silent SNP C C T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 g.chr1:37948876C>T c.1464C>T c.(1462-1464)ggC>ggT p.G488G GBMLGG 1 37941142 37941143 + Frame_Shift_Ins INS - - A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:37941142_37941143insA c.45_46insA c.(46-48)accfs p.T16fs GBMLGG 1 37948728 37948728 + Missense_Mutation SNP G G A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 g.chr1:37948728G>A c.1316G>A c.(1315-1317)gGc>gAc p.G439D GBMLGG 1 37948876 37948876 + Silent SNP C C T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 g.chr1:37948876C>T c.1464C>T c.(1462-1464)ggC>ggT p.G488G HNSC 1 37941403 37941403 + Silent SNP C C G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 g.chr1:37941403C>G c.306C>G c.(304-306)ccC>ccG p.P102P HNSC 1 37941518 37941518 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr1:37941518G>C c.421G>C c.(421-423)Gat>Cat p.D141H HNSC 1 37948750 37948750 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 g.chr1:37948750G>A c.1338G>A c.(1336-1338)caG>caA p.Q446Q HNSC 1 37948897 37948897 + Silent SNP C C T TCGA-P3-A6SX-01A-11D-A34J-08 TCGA-P3-A6SX-10A-01D-A34M-08 g.chr1:37948897C>T c.1485C>T c.(1483-1485)caC>caT p.H495H HNSC 1 37949128 37949128 + Silent SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 g.chr1:37949128G>C c.1716G>C c.(1714-1716)gtG>gtC p.V572V KICH 1 37947246 37947246 + Missense_Mutation SNP T T C TCGA-KN-8421-01A-11D-2310-10 TCGA-KN-8421-11A-01D-2310-10 g.chr1:37947246T>C c.628T>C c.(628-630)Ttc>Ctc p.F210L KIPAN 1 37947246 37947246 + Missense_Mutation SNP T T C TCGA-KN-8421-01A-11D-2310-10 TCGA-KN-8421-11A-01D-2310-10 g.chr1:37947246T>C c.628T>C c.(628-630)Ttc>Ctc p.F210L KIPAN 1 37948519 37948519 + Silent SNP A A T TCGA-UZ-A9Q0-01A-12D-A42J-10 TCGA-UZ-A9Q0-10A-01D-A42M-10 g.chr1:37948519A>T c.1107A>T c.(1105-1107)acA>acT p.T369T KIPAN 1 37948521 37948521 + Missense_Mutation SNP A A T TCGA-G7-A8LC-01A-11D-A35Z-10 TCGA-G7-A8LC-10A-01D-A35Z-10 g.chr1:37948521A>T c.1109A>T c.(1108-1110)gAg>gTg p.E370V KIPAN 1 37949045 37949045 + Missense_Mutation SNP A A T TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr1:37949045A>T c.1633A>T c.(1633-1635)Agg>Tgg p.R545W KIPAN 1 37949076 37949076 + Missense_Mutation SNP G G C TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr1:37949076G>C c.1664G>C c.(1663-1665)aGc>aCc p.S555T KIRC 1 37949076 37949076 + Missense_Mutation SNP G G C TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr1:37949076G>C c.1664G>C c.(1663-1665)aGc>aCc p.S555T KIRP 1 37948519 37948519 + Silent SNP A A T TCGA-UZ-A9Q0-01A-12D-A42J-10 TCGA-UZ-A9Q0-10A-01D-A42M-10 g.chr1:37948519A>T c.1107A>T c.(1105-1107)acA>acT p.T369T KIRP 1 37948521 37948521 + Missense_Mutation SNP A A T TCGA-G7-A8LC-01A-11D-A35Z-10 TCGA-G7-A8LC-10A-01D-A35Z-10 g.chr1:37948521A>T c.1109A>T c.(1108-1110)gAg>gTg p.E370V KIRP 1 37949045 37949045 + Missense_Mutation SNP A A T TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr1:37949045A>T c.1633A>T c.(1633-1635)Agg>Tgg p.R545W LGG 1 37941142 37941143 + Frame_Shift_Ins INS - - A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:37941142_37941143insA c.45_46insA c.(46-48)accfs p.T16fs LIHC 1 37941375 37941375 + Missense_Mutation SNP A A G TCGA-2Y-A9GT-01A-11D-A382-10 TCGA-2Y-A9GT-10A-01D-A385-10 g.chr1:37941375A>G c.278A>G c.(277-279)gAg>gGg p.E93G LIHC 1 37945926 37945926 + Missense_Mutation SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr1:37945926T>C c.479T>C c.(478-480)aTc>aCc p.I160T LIHC 1 37945929 37945929 + Missense_Mutation SNP T T A TCGA-XR-A8TG-01A-11D-A35Z-10 TCGA-XR-A8TG-10A-01D-A35Z-10 g.chr1:37945929T>A c.482T>A c.(481-483)cTg>cAg p.L161Q LIHC 1 37947212 37947212 + Frame_Shift_Del DEL C C - TCGA-2V-A95S-01A-11D-A36X-10 TCGA-2V-A95S-10D-01D-A370-10 g.chr1:37947212delC c.594delC c.(592-594)atcfs p.I198fs LUAD 1 37941169 37941169 + Silent SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 g.chr1:37941169C>T c.72C>T c.(70-72)gaC>gaT p.D24D LUAD 1 37945985 37945985 + Missense_Mutation SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr1:37945985C>T c.538C>T c.(538-540)Cca>Tca p.P180S LUAD 1 37947399 37947399 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr1:37947399G>A c.781G>A c.(781-783)Gag>Aag p.E261K LUAD 1 37947426 37947426 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr1:37947426G>C c.808G>C c.(808-810)Gtc>Ctc p.V270L LUAD 1 37948855 37948855 + Silent SNP C C T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr1:37948855C>T c.1443C>T c.(1441-1443)acC>acT p.T481T LUSC 1 37947224 37947224 + Silent SNP G G T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr1:37947224G>T c.606G>T c.(604-606)ctG>ctT p.L202L LUSC 1 37948064 37948064 + Missense_Mutation SNP G G A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 g.chr1:37948064G>A c.848G>A c.(847-849)cGg>cAg p.R283Q LUSC 1 37948776 37948776 + Missense_Mutation SNP G G A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr1:37948776G>A c.1364G>A c.(1363-1365)gGa>gAa p.G455E OV 1 37945952 37945952 + Missense_Mutation SNP G G A TCGA-13-1410-01A-01W-0492-08 TCGA-13-1410-10A-01W-0493-08 g.chr1:37945952G>A c.505G>A c.(505-507)Gag>Aag p.E169K OV 1 37949076 37949076 + Missense_Mutation SNP G G A TCGA-13-0905-01B-01W-0492-08 TCGA-13-0905-10A-01W-0492-08 g.chr1:37949076G>A c.1664G>A c.(1663-1665)aGc>aAc p.S555N PAAD 1 37947216 37947216 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:37947216C>T c.598C>T c.(598-600)Cgg>Tgg p.R200W PAAD 1 37947235 37947235 + Missense_Mutation SNP A A T TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 g.chr1:37947235A>T c.617A>T c.(616-618)aAg>aTg p.K206M PAAD 1 37947303 37947303 + Missense_Mutation SNP A A G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr1:37947303A>G c.685A>G c.(685-687)Att>Gtt p.I229V PAAD 1 37948755 37948755 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:37948755C>T c.1343C>T c.(1342-1344)tCg>tTg p.S448L PAAD 1 37948837 37948837 + Silent SNP A A T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 g.chr1:37948837A>T c.1425A>T c.(1423-1425)ggA>ggT p.G475G PAAD 1 37948876 37948876 + Silent SNP C C T TCGA-OE-A75W-01A-12D-A32N-08 TCGA-OE-A75W-10A-01D-A32N-08 g.chr1:37948876C>T c.1464C>T c.(1462-1464)ggC>ggT p.G488G PCPG 1 37948042 37948042 + Missense_Mutation SNP C C T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 g.chr1:37948042C>T c.826C>T c.(826-828)Ccc>Tcc p.P276S PRAD 1 37941263 37941263 + Missense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 g.chr1:37941263C>T c.166C>T c.(166-168)Cgg>Tgg p.R56W READ 1 37947405 37947405 + Missense_Mutation SNP C C T TCGA-AG-4015-01A-01W-1073-09 TCGA-AG-4015-10A-01W-1073-09 g.chr1:37947405C>T c.787C>T c.(787-789)Cgg>Tgg p.R263W READ 1 37949058 37949058 + Missense_Mutation SNP T T C TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr1:37949058T>C c.1646T>C c.(1645-1647)cTg>cCg p.L549P SARC 1 37947330 37947330 + Missense_Mutation SNP G G T TCGA-HB-A3YV-01A-11D-A24N-09 TCGA-HB-A3YV-10A-01D-A24N-09 g.chr1:37947330G>T c.712G>T c.(712-714)Ggg>Tgg p.G238W SKCM 1 37941176 37941176 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:37941176A>G c.79A>G c.(79-81)Agc>Ggc p.S27G SKCM 1 37941452 37941452 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:37941452C>T c.355C>T c.(355-357)Ccc>Tcc p.P119S SKCM 1 37945972 37945972 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr1:37945972C>T c.525C>T c.(523-525)atC>atT p.I175I SKCM 1 37947259 37947259 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr1:37947259G>A c.641G>A c.(640-642)cGa>cAa p.R214Q SKCM 1 37947294 37947294 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr1:37947294G>A c.676G>A c.(676-678)Gac>Aac p.D226N SKCM 1 37947358 37947358 + Missense_Mutation SNP G G C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr1:37947358G>C c.740G>C c.(739-741)cGt>cCt p.R247P SKCM 1 37949106 37949106 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr1:37949106C>T c.1694C>T c.(1693-1695)cCc>cTc p.P565L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 37941247 37941247 single base substitution G T missense_variant M50I 150G>T BLCA-US 1 37941247 37941247 single base substitution G T upstream_gene_variant BLCA-US 1 37945897 37945897 single base substitution G T exon_variant BLCA-US 1 37945897 37945897 single base substitution G T synonymous_variant G150G 450G>T BLCA-US 1 37945897 37945897 single base substitution G T upstream_gene_variant BLCA-US 1 37945923 37945923 single base substitution G A exon_variant BLCA-US 1 37945923 37945923 single base substitution G A missense_variant G159D 476G>A BLCA-US 1 37945923 37945923 single base substitution G A upstream_gene_variant BLCA-US 1 37946006 37946006 single base substitution C T exon_variant BLCA-US 1 37946006 37946006 single base substitution C T missense_variant P187S 559C>T BLCA-US 1 37946006 37946006 single base substitution C T upstream_gene_variant BLCA-US 1 37947335 37947335 single base substitution C T exon_variant BLCA-US 1 37947335 37947335 single base substitution C T synonymous_variant I15I 45C>T BLCA-US 1 37947335 37947335 single base substitution C T synonymous_variant I239I 717C>T BLCA-US 1 37947425 37947425 single base substitution C T downstream_gene_variant BLCA-US 1 37947425 37947425 single base substitution C T synonymous_variant F269F 807C>T BLCA-US 1 37947425 37947425 single base substitution C T synonymous_variant F45F 135C>T BOCA-FR 1 37946809 37946809 single base substitution G C intron_variant BOCA-FR 1 37946809 37946809 single base substitution G C upstream_gene_variant BRCA-EU 1 37936047 37936047 single base substitution G A upstream_gene_variant BRCA-EU 1 37936147 37936147 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 37937026 37937026 single base substitution G A upstream_gene_variant BRCA-EU 1 37937205 37937205 insertion of <=200bp - AT upstream_gene_variant BRCA-EU 1 37938016 37938016 single base substitution C T upstream_gene_variant BRCA-EU 1 37939397 37939397 single base substitution G A upstream_gene_variant BRCA-EU 1 37943372 37943372 single base substitution C A intron_variant BRCA-EU 1 37943372 37943372 single base substitution C A upstream_gene_variant BRCA-EU 1 37943737 37943737 single base substitution G C intron_variant BRCA-EU 1 37943737 37943737 single base substitution G C upstream_gene_variant BRCA-EU 1 37944201 37944201 single base substitution C G intron_variant BRCA-EU 1 37944201 37944201 single base substitution C G upstream_gene_variant BRCA-EU 1 37944896 37944896 single base substitution G T intron_variant BRCA-EU 1 37944896 37944896 single base substitution G T upstream_gene_variant BRCA-EU 1 37945516 37945516 single base substitution C T intron_variant BRCA-EU 1 37945516 37945516 single base substitution C T upstream_gene_variant BRCA-EU 1 37945993 37945993 single base substitution G A exon_variant BRCA-EU 1 37945993 37945993 single base substitution G A stop_gained W182* 546G>A BRCA-EU 1 37945993 37945993 single base substitution G A upstream_gene_variant BRCA-EU 1 37948904 37948904 single base substitution G C downstream_gene_variant BRCA-EU 1 37948904 37948904 single base substitution G C missense_variant V498L 1492G>C BRCA-EU 1 37949066 37949066 single base substitution G C downstream_gene_variant BRCA-EU 1 37949066 37949066 single base substitution G C missense_variant E552Q 1654G>C BRCA-EU 1 37949133 37949133 single base substitution G T downstream_gene_variant BRCA-EU 1 37949133 37949133 single base substitution G T missense_variant G574V 1721G>T BRCA-EU 1 37951027 37951027 single base substitution G A downstream_gene_variant BRCA-EU 1 37951128 37951128 single base substitution G A downstream_gene_variant BRCA-FR 1 37949066 37949066 single base substitution G C downstream_gene_variant BRCA-FR 1 37949066 37949066 single base substitution G C missense_variant E552Q 1654G>C BRCA-FR 1 37951128 37951128 single base substitution G A downstream_gene_variant BRCA-UK 1 37937026 37937026 single base substitution G A upstream_gene_variant BRCA-UK 1 37941109 37941109 single base substitution C G synonymous_variant P4P 12C>G BRCA-UK 1 37941109 37941109 single base substitution C G upstream_gene_variant BRCA-US 1 37941282 37941282 deletion of <=200bp C - frameshift_variant S62 BRCA-US 1 37941282 37941282 deletion of <=200bp C - upstream_gene_variant BRCA-US 1 37947372 37947372 single base substitution G A downstream_gene_variant BRCA-US 1 37947372 37947372 single base substitution G A missense_variant E252K 754G>A BRCA-US 1 37947372 37947372 single base substitution G A missense_variant E28K 82G>A BRCA-US 1 37948212 37948212 single base substitution C G downstream_gene_variant BRCA-US 1 37948212 37948212 single base substitution C G intron_variant BRCA-US 1 37948444 37948444 insertion of <=200bp - C downstream_gene_variant BRCA-US 1 37948444 37948444 insertion of <=200bp - C frameshift_variant S344S? BRCA-US 1 37948869 37948869 single base substitution C G downstream_gene_variant BRCA-US 1 37948869 37948869 single base substitution C G missense_variant A486G 1457C>G BRCA-US 1 37949123 37949123 single base substitution G A downstream_gene_variant BRCA-US 1 37949123 37949123 single base substitution G A missense_variant A571T 1711G>A BRCA-US 1 37949403 37949403 single base substitution T C 3_prime_UTR_variant BRCA-US 1 37949403 37949403 single base substitution T C downstream_gene_variant BTCA-JP 1 37941402 37941402 single base substitution C G missense_variant P102R 305C>G BTCA-JP 1 37941402 37941402 single base substitution C G upstream_gene_variant BTCA-JP 1 37948269 37948269 single base substitution C T downstream_gene_variant BTCA-JP 1 37948269 37948269 single base substitution C T intron_variant BTCA-JP 1 37948663 37948664 deletion of <=200bp CA - downstream_gene_variant BTCA-JP 1 37948663 37948664 deletion of <=200bp CA - frameshift_variant PT417 BTCA-JP 1 37949051 37949051 insertion of <=200bp - G downstream_gene_variant BTCA-JP 1 37949051 37949051 insertion of <=200bp - G frameshift_variant G547G? CESC-US 1 37941279 37941279 single base substitution C A stop_gained S61* 182C>A CESC-US 1 37941279 37941279 single base substitution C A upstream_gene_variant CESC-US 1 37941335 37941335 single base substitution A G missense_variant T80A 238A>G CESC-US 1 37941335 37941335 single base substitution A G upstream_gene_variant CESC-US 1 37945919 37945919 single base substitution C A exon_variant CESC-US 1 37945919 37945919 single base substitution C A synonymous_variant R158R 472C>A CESC-US 1 37945919 37945919 single base substitution C A upstream_gene_variant CESC-US 1 37946015 37946015 single base substitution G A exon_variant CESC-US 1 37946015 37946015 single base substitution G A missense_variant D190N 568G>A CESC-US 1 37946015 37946015 single base substitution G A upstream_gene_variant CESC-US 1 37947261 37947261 single base substitution C T exon_variant CESC-US 1 37947261 37947261 single base substitution C T missense_variant R215C 643C>T CESC-US 1 37947261 37947261 single base substitution C T upstream_gene_variant CESC-US 1 37948736 37948736 single base substitution T C downstream_gene_variant CESC-US 1 37948736 37948736 single base substitution T C missense_variant S442P 1324T>C CLLE-ES 1 37943328 37943328 single base substitution T C intron_variant CLLE-ES 1 37943328 37943328 single base substitution T C upstream_gene_variant COAD-US 1 37941312 37941312 single base substitution T G missense_variant L72R 215T>G COAD-US 1 37941312 37941312 single base substitution T G upstream_gene_variant COAD-US 1 37941324 37941324 single base substitution C T missense_variant A76V 227C>T COAD-US 1 37941324 37941324 single base substitution C T upstream_gene_variant COAD-US 1 37945956 37945956 deletion of <=200bp G - exon_variant COAD-US 1 37945956 37945956 deletion of <=200bp G - frameshift_variant R170 COAD-US 1 37945956 37945956 deletion of <=200bp G - upstream_gene_variant COAD-US 1 37947226 37947228 deletion of <=200bp AGA - exon_variant COAD-US 1 37947226 37947228 deletion of <=200bp AGA - inframe_deletion EK203E COAD-US 1 37947226 37947228 deletion of <=200bp AGA - upstream_gene_variant COAD-US 1 37947425 37947425 single base substitution C T downstream_gene_variant COAD-US 1 37947425 37947425 single base substitution C T synonymous_variant F269F 807C>T COAD-US 1 37947425 37947425 single base substitution C T synonymous_variant F45F 135C>T COAD-US 1 37949003 37949003 deletion of <=200bp C - downstream_gene_variant COAD-US 1 37949003 37949003 deletion of <=200bp C - frameshift_variant P531 COAD-US 1 37949076 37949076 single base substitution G T downstream_gene_variant COAD-US 1 37949076 37949076 single base substitution G T missense_variant S555I 1664G>T COCA-CN 1 37941183 37941183 single base substitution A G missense_variant Q29R 86A>G COCA-CN 1 37941183 37941183 single base substitution A G upstream_gene_variant COCA-CN 1 37941411 37941411 single base substitution A G missense_variant Q105R 314A>G COCA-CN 1 37941411 37941411 single base substitution A G upstream_gene_variant COCA-CN 1 37941517 37941517 single base substitution C T synonymous_variant I140I 420C>T COCA-CN 1 37941517 37941517 single base substitution C T upstream_gene_variant COCA-CN 1 37941662 37941662 single base substitution G A intron_variant COCA-CN 1 37941662 37941662 single base substitution G A upstream_gene_variant COCA-CN 1 37945845 37945845 single base substitution G A exon_variant COCA-CN 1 37945845 37945845 single base substitution G A intron_variant COCA-CN 1 37945845 37945845 single base substitution G A upstream_gene_variant COCA-CN 1 37948329 37948329 single base substitution C A downstream_gene_variant COCA-CN 1 37948329 37948329 single base substitution C A intron_variant COCA-CN 1 37948544 37948544 single base substitution G A downstream_gene_variant COCA-CN 1 37948544 37948544 single base substitution G A missense_variant G378R 1132G>A ESAD-UK 1 37937660 37937660 single base substitution C G upstream_gene_variant ESAD-UK 1 37938302 37938302 single base substitution G A upstream_gene_variant ESAD-UK 1 37939758 37939758 single base substitution T G upstream_gene_variant ESAD-UK 1 37942098 37942098 single base substitution G T intron_variant ESAD-UK 1 37942098 37942098 single base substitution G T upstream_gene_variant ESAD-UK 1 37943425 37943425 single base substitution A T intron_variant ESAD-UK 1 37943425 37943425 single base substitution A T upstream_gene_variant ESAD-UK 1 37945959 37945959 single base substitution G T exon_variant ESAD-UK 1 37945959 37945959 single base substitution G T missense_variant G171V 512G>T ESAD-UK 1 37945959 37945959 single base substitution G T upstream_gene_variant ESAD-UK 1 37950841 37950841 single base substitution G A downstream_gene_variant ESAD-UK 1 37951223 37951223 single base substitution G T downstream_gene_variant ESAD-UK 1 37952442 37952442 single base substitution C T downstream_gene_variant ESAD-UK 1 37953134 37953134 single base substitution T A downstream_gene_variant ESAD-UK 1 37954413 37954413 single base substitution G A downstream_gene_variant ESCA-CN 1 37945990 37945990 single base substitution C G exon_variant ESCA-CN 1 37945990 37945990 single base substitution C G synonymous_variant S181S 543C>G ESCA-CN 1 37945990 37945990 single base substitution C G upstream_gene_variant GBM-US 1 37948728 37948728 single base substitution G A downstream_gene_variant GBM-US 1 37948728 37948728 single base substitution G A missense_variant G439D 1316G>A GBM-US 1 37948876 37948876 single base substitution C T downstream_gene_variant GBM-US 1 37948876 37948876 single base substitution C T synonymous_variant G488G 1464C>T KIRC-US 1 37949076 37949076 single base substitution G C downstream_gene_variant KIRC-US 1 37949076 37949076 single base substitution G C missense_variant S555T 1664G>C KIRP-US 1 37949045 37949045 single base substitution A T downstream_gene_variant KIRP-US 1 37949045 37949045 single base substitution A T missense_variant R545W 1633A>T LAML-KR 1 37948912 37948912 single base substitution C T downstream_gene_variant LAML-KR 1 37948912 37948912 single base substitution C T synonymous_variant A500A 1500C>T LICA-FR 1 37937278 37937278 single base substitution G T upstream_gene_variant LICA-FR 1 37943056 37943056 single base substitution T G intron_variant LICA-FR 1 37943056 37943056 single base substitution T G upstream_gene_variant LICA-FR 1 37948661 37948661 single base substitution C T downstream_gene_variant LICA-FR 1 37948661 37948661 single base substitution C T missense_variant P417S 1249C>T LINC-JP 1 37939111 37939111 single base substitution T A upstream_gene_variant LINC-JP 1 37939117 37939117 single base substitution A G upstream_gene_variant LINC-JP 1 37939125 37939125 single base substitution G A upstream_gene_variant LINC-JP 1 37940801 37940801 single base substitution C G intron_variant LINC-JP 1 37940801 37940801 single base substitution C G upstream_gene_variant LINC-JP 1 37948629 37948629 single base substitution C G downstream_gene_variant LINC-JP 1 37948629 37948629 single base substitution C G missense_variant A406G 1217C>G LINC-JP 1 37948877 37948877 single base substitution C T downstream_gene_variant LINC-JP 1 37948877 37948877 single base substitution C T missense_variant R489W 1465C>T LIRI-JP 1 37936189 37936189 single base substitution T C upstream_gene_variant LIRI-JP 1 37937416 37937416 single base substitution A C upstream_gene_variant LIRI-JP 1 37938288 37938288 single base substitution T C upstream_gene_variant LIRI-JP 1 37938625 37938625 single base substitution A G upstream_gene_variant LIRI-JP 1 37940556 37940556 single base substitution G A intron_variant LIRI-JP 1 37941573 37941573 single base substitution G A intron_variant LIRI-JP 1 37941573 37941573 single base substitution G A upstream_gene_variant LIRI-JP 1 37941698 37941698 single base substitution T A intron_variant LIRI-JP 1 37941698 37941698 single base substitution T A upstream_gene_variant LIRI-JP 1 37942491 37942491 single base substitution T G intron_variant LIRI-JP 1 37942491 37942491 single base substitution T G upstream_gene_variant LIRI-JP 1 37942731 37942731 single base substitution T C intron_variant LIRI-JP 1 37942731 37942731 single base substitution T C upstream_gene_variant LIRI-JP 1 37944417 37944417 single base substitution T A intron_variant LIRI-JP 1 37944417 37944417 single base substitution T A upstream_gene_variant LIRI-JP 1 37950510 37950510 single base substitution T C downstream_gene_variant LUSC-KR 1 37936740 37936740 single base substitution C T upstream_gene_variant LUSC-KR 1 37947235 37947235 single base substitution A T exon_variant LUSC-KR 1 37947235 37947235 single base substitution A T missense_variant K206M 617A>T LUSC-KR 1 37947235 37947235 single base substitution A T upstream_gene_variant LUSC-KR 1 37952440 37952440 single base substitution C A downstream_gene_variant LUSC-KR 1 37953137 37953137 single base substitution T A downstream_gene_variant LUSC-KR 1 37954362 37954362 single base substitution G A downstream_gene_variant LUSC-US 1 37947224 37947224 single base substitution G T exon_variant LUSC-US 1 37947224 37947224 single base substitution G T synonymous_variant L202L 606G>T LUSC-US 1 37947224 37947224 single base substitution G T upstream_gene_variant LUSC-US 1 37948064 37948064 single base substitution G A downstream_gene_variant LUSC-US 1 37948064 37948064 single base substitution G A missense_variant G86S 256G>A LUSC-US 1 37948064 37948064 single base substitution G A missense_variant R283Q 848G>A LUSC-US 1 37948776 37948776 single base substitution G A downstream_gene_variant LUSC-US 1 37948776 37948776 single base substitution G A missense_variant G455E 1364G>A MALY-DE 1 37940574 37940574 single base substitution C T intron_variant MALY-DE 1 37941200 37941200 single base substitution G A missense_variant G35S 103G>A MALY-DE 1 37941200 37941200 single base substitution G A upstream_gene_variant MALY-DE 1 37941241 37941241 single base substitution G A synonymous_variant L48L 144G>A MALY-DE 1 37941241 37941241 single base substitution G A upstream_gene_variant MALY-DE 1 37941276 37941276 single base substitution A C missense_variant Y60S 179A>C MALY-DE 1 37941276 37941276 single base substitution A C upstream_gene_variant MALY-DE 1 37941461 37941461 single base substitution G C missense_variant E122Q 364G>C MALY-DE 1 37941461 37941461 single base substitution G C upstream_gene_variant MALY-DE 1 37944026 37944026 single base substitution A C intron_variant MALY-DE 1 37944026 37944026 single base substitution A C upstream_gene_variant MALY-DE 1 37950700 37950700 single base substitution C T downstream_gene_variant MALY-DE 1 37950953 37950953 single base substitution C A downstream_gene_variant MELA-AU 1 37935485 37935485 single base substitution G A upstream_gene_variant MELA-AU 1 37935798 37935798 single base substitution G A upstream_gene_variant MELA-AU 1 37936097 37936097 single base substitution G A upstream_gene_variant MELA-AU 1 37936131 37936132 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 37936674 37936674 single base substitution G A upstream_gene_variant MELA-AU 1 37937130 37937130 single base substitution A G upstream_gene_variant MELA-AU 1 37937306 37937306 single base substitution C T upstream_gene_variant MELA-AU 1 37938115 37938115 single base substitution G A upstream_gene_variant MELA-AU 1 37938299 37938299 single base substitution C T upstream_gene_variant MELA-AU 1 37939604 37939604 single base substitution G A upstream_gene_variant MELA-AU 1 37939930 37939930 single base substitution T A upstream_gene_variant MELA-AU 1 37940052 37940052 single base substitution G A upstream_gene_variant MELA-AU 1 37940062 37940062 single base substitution G A upstream_gene_variant MELA-AU 1 37940063 37940063 single base substitution C T upstream_gene_variant MELA-AU 1 37940105 37940105 single base substitution C T upstream_gene_variant MELA-AU 1 37940112 37940112 single base substitution C T upstream_gene_variant MELA-AU 1 37940376 37940376 single base substitution C T intron_variant MELA-AU 1 37941331 37941331 single base substitution C T synonymous_variant T78T 234C>T MELA-AU 1 37941331 37941331 single base substitution C T upstream_gene_variant MELA-AU 1 37941443 37941443 single base substitution C T missense_variant P116S 346C>T MELA-AU 1 37941443 37941443 single base substitution C T upstream_gene_variant MELA-AU 1 37941507 37941507 single base substitution C T missense_variant P137L 410C>T MELA-AU 1 37941507 37941507 single base substitution C T upstream_gene_variant MELA-AU 1 37941875 37941875 single base substitution C T intron_variant MELA-AU 1 37941875 37941875 single base substitution C T upstream_gene_variant MELA-AU 1 37941984 37941986 deletion of <=200bp GTT - intron_variant MELA-AU 1 37941984 37941986 deletion of <=200bp GTT - upstream_gene_variant MELA-AU 1 37942162 37942162 single base substitution C T intron_variant MELA-AU 1 37942162 37942162 single base substitution C T upstream_gene_variant MELA-AU 1 37942565 37942565 single base substitution C T intron_variant MELA-AU 1 37942565 37942565 single base substitution C T upstream_gene_variant MELA-AU 1 37944628 37944628 single base substitution C T intron_variant MELA-AU 1 37944628 37944628 single base substitution C T upstream_gene_variant MELA-AU 1 37945112 37945113 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 37945112 37945113 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 37945517 37945517 single base substitution C T intron_variant MELA-AU 1 37945517 37945517 single base substitution C T upstream_gene_variant MELA-AU 1 37945972 37945972 single base substitution C T exon_variant MELA-AU 1 37945972 37945972 single base substitution C T synonymous_variant I175I 525C>T MELA-AU 1 37945972 37945972 single base substitution C T upstream_gene_variant MELA-AU 1 37947747 37947747 single base substitution C T downstream_gene_variant MELA-AU 1 37947747 37947747 single base substitution C T intron_variant MELA-AU 1 37948181 37948181 single base substitution C T downstream_gene_variant MELA-AU 1 37948181 37948181 single base substitution C T intron_variant MELA-AU 1 37948181 37948181 single base substitution C T synonymous_variant L125L 373C>T MELA-AU 1 37948802 37948803 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 37948802 37948803 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P464F 1390CC>TT MELA-AU 1 37949457 37949457 single base substitution C T 3_prime_UTR_variant MELA-AU 1 37949457 37949457 single base substitution C T downstream_gene_variant MELA-AU 1 37949935 37949935 single base substitution C T 3_prime_UTR_variant MELA-AU 1 37949935 37949935 single base substitution C T downstream_gene_variant MELA-AU 1 37950212 37950212 single base substitution G A downstream_gene_variant MELA-AU 1 37950686 37950686 single base substitution G A downstream_gene_variant MELA-AU 1 37951179 37951179 single base substitution G A downstream_gene_variant MELA-AU 1 37952487 37952487 single base substitution G A downstream_gene_variant MELA-AU 1 37952488 37952488 single base substitution G A downstream_gene_variant MELA-AU 1 37953253 37953253 single base substitution G A downstream_gene_variant MELA-AU 1 37953448 37953448 single base substitution G A downstream_gene_variant MELA-AU 1 37953474 37953474 single base substitution G A downstream_gene_variant MELA-AU 1 37954681 37954681 single base substitution G A downstream_gene_variant MELA-AU 1 37954904 37954904 single base substitution G A downstream_gene_variant OV-AU 1 37937783 37937783 single base substitution G A upstream_gene_variant OV-AU 1 37945294 37945294 single base substitution C T intron_variant OV-AU 1 37945294 37945294 single base substitution C T upstream_gene_variant OV-AU 1 37952859 37952859 single base substitution C T downstream_gene_variant PACA-AU 1 37941746 37941746 single base substitution C A intron_variant PACA-AU 1 37941746 37941746 single base substitution C A upstream_gene_variant PACA-AU 1 37949816 37949818 deletion of <=200bp TCT - 3_prime_UTR_variant PACA-AU 1 37949816 37949818 deletion of <=200bp TCT - downstream_gene_variant PACA-AU 1 37950054 37950054 single base substitution G A downstream_gene_variant PACA-CA 1 37938269 37938269 single base substitution C T upstream_gene_variant PACA-CA 1 37939863 37939863 single base substitution G A upstream_gene_variant PACA-CA 1 37944025 37944025 single base substitution G A intron_variant PACA-CA 1 37944025 37944025 single base substitution G A upstream_gene_variant PACA-CA 1 37948175 37948175 single base substitution T A downstream_gene_variant PACA-CA 1 37948175 37948175 single base substitution T A intron_variant PACA-CA 1 37948175 37948175 single base substitution T A missense_variant S123T 367T>A PACA-CA 1 37948368 37948368 single base substitution G A downstream_gene_variant PACA-CA 1 37948368 37948368 single base substitution G A missense_variant R319Q 956G>A PBCA-DE 1 37935982 37935982 single base substitution T A upstream_gene_variant PBCA-DE 1 37939093 37939094 deletion of <=200bp TC - upstream_gene_variant PBCA-DE 1 37939126 37939127 deletion of <=200bp CA - upstream_gene_variant PRAD-CA 1 37938925 37938925 single base substitution G A upstream_gene_variant PRAD-UK 1 37942247 37942247 single base substitution T A intron_variant PRAD-UK 1 37942247 37942247 single base substitution T A upstream_gene_variant PRAD-US 1 37941263 37941263 single base substitution C T missense_variant R56W 166C>T PRAD-US 1 37941263 37941263 single base substitution C T upstream_gene_variant READ-US 1 37947226 37947228 deletion of <=200bp AGA - exon_variant READ-US 1 37947226 37947228 deletion of <=200bp AGA - inframe_deletion EK203E READ-US 1 37947226 37947228 deletion of <=200bp AGA - upstream_gene_variant READ-US 1 37948760 37948760 single base substitution C T downstream_gene_variant READ-US 1 37948760 37948760 single base substitution C T missense_variant L450F 1348C>T RECA-EU 1 37941651 37941651 single base substitution T A intron_variant RECA-EU 1 37941651 37941651 single base substitution T A upstream_gene_variant RECA-EU 1 37954926 37954926 single base substitution G A downstream_gene_variant SKCA-BR 1 37938007 37938007 single base substitution G A upstream_gene_variant SKCA-BR 1 37939125 37939125 insertion of <=200bp - GCA upstream_gene_variant SKCA-BR 1 37940112 37940112 single base substitution C T upstream_gene_variant SKCA-BR 1 37940113 37940113 single base substitution C T upstream_gene_variant SKCA-BR 1 37940583 37940583 single base substitution G C intron_variant SKCA-BR 1 37943027 37943027 single base substitution A G intron_variant SKCA-BR 1 37943027 37943027 single base substitution A G upstream_gene_variant SKCA-BR 1 37943032 37943032 single base substitution A G intron_variant SKCA-BR 1 37943032 37943032 single base substitution A G upstream_gene_variant SKCA-BR 1 37944483 37944483 single base substitution C T intron_variant SKCA-BR 1 37944483 37944483 single base substitution C T upstream_gene_variant SKCM-US 1 37941176 37941176 single base substitution A G missense_variant S27G 79A>G SKCM-US 1 37941176 37941176 single base substitution A G upstream_gene_variant SKCM-US 1 37941452 37941452 single base substitution C T missense_variant P119S 355C>T SKCM-US 1 37941452 37941452 single base substitution C T upstream_gene_variant SKCM-US 1 37945972 37945972 single base substitution C T exon_variant SKCM-US 1 37945972 37945972 single base substitution C T synonymous_variant I175I 525C>T SKCM-US 1 37945972 37945972 single base substitution C T upstream_gene_variant SKCM-US 1 37947259 37947259 single base substitution G A exon_variant SKCM-US 1 37947259 37947259 single base substitution G A missense_variant R214Q 641G>A SKCM-US 1 37947259 37947259 single base substitution G A upstream_gene_variant SKCM-US 1 37947294 37947294 single base substitution G A exon_variant SKCM-US 1 37947294 37947294 single base substitution G A missense_variant D226N 676G>A SKCM-US 1 37947294 37947294 single base substitution G A missense_variant D2N 4G>A SKCM-US 1 37947358 37947358 single base substitution G C exon_variant SKCM-US 1 37947358 37947358 single base substitution G C missense_variant R23P 68G>C SKCM-US 1 37947358 37947358 single base substitution G C missense_variant R247P 740G>C STAD-US 1 37941105 37941105 single base substitution G A missense_variant G3D 8G>A STAD-US 1 37941105 37941105 single base substitution G A upstream_gene_variant STAD-US 1 37945912 37945914 deletion of <=200bp CTC - exon_variant STAD-US 1 37945912 37945914 deletion of <=200bp CTC - inframe_deletion FS155F STAD-US 1 37945912 37945914 deletion of <=200bp CTC - upstream_gene_variant STAD-US 1 37945977 37945980 deletion of <=200bp TGTT - exon_variant STAD-US 1 37945977 37945980 deletion of <=200bp TGTT - frameshift_variant VF177 STAD-US 1 37945977 37945980 deletion of <=200bp TGTT - upstream_gene_variant STAD-US 1 37947230 37947230 insertion of <=200bp - A exon_variant STAD-US 1 37947230 37947230 insertion of <=200bp - A frameshift_variant K204K? STAD-US 1 37947230 37947230 insertion of <=200bp - A upstream_gene_variant STAD-US 1 37947231 37947231 insertion of <=200bp - A exon_variant STAD-US 1 37947231 37947231 insertion of <=200bp - A frameshift_variant K205K? STAD-US 1 37947231 37947231 insertion of <=200bp - A upstream_gene_variant STAD-US 1 37947263 37947263 single base substitution C T exon_variant STAD-US 1 37947263 37947263 single base substitution C T synonymous_variant R215R 645C>T STAD-US 1 37947263 37947263 single base substitution C T upstream_gene_variant STAD-US 1 37948445 37948445 deletion of <=200bp C - downstream_gene_variant STAD-US 1 37948445 37948445 deletion of <=200bp C - frameshift_variant P345 STAD-US 1 37948555 37948555 deletion of <=200bp G - downstream_gene_variant STAD-US 1 37948555 37948555 deletion of <=200bp G - frameshift_variant L381 STAD-US 1 37948615 37948615 single base substitution A G downstream_gene_variant STAD-US 1 37948615 37948615 single base substitution A G synonymous_variant S401S 1203A>G STAD-US 1 37948713 37948713 single base substitution A T downstream_gene_variant STAD-US 1 37948713 37948713 single base substitution A T missense_variant D434V 1301A>T STAD-US 1 37948726 37948726 single base substitution G A downstream_gene_variant STAD-US 1 37948726 37948726 single base substitution G A synonymous_variant S438S 1314G>A STAD-US 1 37948726 37948726 single base substitution G T downstream_gene_variant STAD-US 1 37948726 37948726 single base substitution G T synonymous_variant S438S 1314G>T STAD-US 1 37948822 37948824 deletion of <=200bp CTA - downstream_gene_variant STAD-US 1 37948822 37948824 deletion of <=200bp CTA - inframe_deletion GY470G STAD-US 1 37948942 37948942 single base substitution A G downstream_gene_variant STAD-US 1 37948942 37948942 single base substitution A G synonymous_variant P510P 1530A>G STAD-US 1 37949047 37949047 single base substitution G T downstream_gene_variant STAD-US 1 37949047 37949047 single base substitution G T missense_variant R545S 1635G>T STAD-US 1 37949169 37949169 single base substitution C T downstream_gene_variant STAD-US 1 37949169 37949169 single base substitution C T missense_variant A586V 1757C>T THCA-SA 1 37948057 37948057 deletion of <=200bp C - downstream_gene_variant THCA-SA 1 37948057 37948057 deletion of <=200bp C - frameshift_variant H83 THCA-SA 1 37948057 37948057 deletion of <=200bp C - frameshift_variant L281 THCA-SA 1 37948912 37948912 single base substitution C T downstream_gene_variant THCA-SA 1 37948912 37948912 single base substitution C T synonymous_variant A500A 1500C>T UCEC-US 1 37941298 37941298 single base substitution C T synonymous_variant S67S 201C>T UCEC-US 1 37941298 37941298 single base substitution C T upstream_gene_variant UCEC-US 1 37945972 37945972 single base substitution C A exon_variant UCEC-US 1 37945972 37945972 single base substitution C A synonymous_variant I175I 525C>A UCEC-US 1 37945972 37945972 single base substitution C A upstream_gene_variant UCEC-US 1 37947216 37947216 single base substitution C T exon_variant UCEC-US 1 37947216 37947216 single base substitution C T missense_variant R200W 598C>T UCEC-US 1 37947216 37947216 single base substitution C T upstream_gene_variant UCEC-US 1 37947263 37947263 single base substitution C T exon_variant UCEC-US 1 37947263 37947263 single base substitution C T synonymous_variant R215R 645C>T UCEC-US 1 37947263 37947263 single base substitution C T upstream_gene_variant UCEC-US 1 37947286 37947286 single base substitution G A exon_variant UCEC-US 1 37947286 37947286 single base substitution G A missense_variant C223Y 668G>A UCEC-US 1 37947286 37947286 single base substitution G A upstream_gene_variant UCEC-US 1 37947347 37947347 single base substitution C G exon_variant UCEC-US 1 37947347 37947347 single base substitution C G missense_variant N19K 57C>G UCEC-US 1 37947347 37947347 single base substitution C G missense_variant N243K 729C>G UCEC-US 1 37947390 37947390 single base substitution C T downstream_gene_variant UCEC-US 1 37947390 37947390 single base substitution C T missense_variant R258C 772C>T UCEC-US 1 37947390 37947390 single base substitution C T missense_variant R34C 100C>T UCEC-US 1 37948351 37948351 single base substitution C A downstream_gene_variant UCEC-US 1 37948351 37948351 single base substitution C A synonymous_variant T313T 939C>A UCEC-US 1 37948533 37948533 single base substitution G A downstream_gene_variant UCEC-US 1 37948533 37948533 single base substitution G A missense_variant C374Y 1121G>A UCEC-US 1 37948725 37948725 single base substitution C T downstream_gene_variant UCEC-US 1 37948725 37948725 single base substitution C T missense_variant S438L 1313C>T UCEC-US 1 37948808 37948808 single base substitution G T downstream_gene_variant UCEC-US 1 37948808 37948808 single base substitution G T missense_variant A466S 1396G>T UCEC-US 1 37948838 37948838 single base substitution T C downstream_gene_variant UCEC-US 1 37948838 37948838 single base substitution T C missense_variant S476P 1426T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DR-A0ZM-01 COSM459242 c.1003G>A p.D335N Substitution - Missense 1:37482814-37482814 + tumor_4163639 COSM1160924 c.774C>CT p.I260fs*13 Complex - frameshift 1:37481791-37481791 + PD7220a COSM5769068 c.1721G>T p.G574V Substitution - Missense 1:37483532-37483532 + TCGA-AG-4015-01 COSM289619 c.787C>T p.R263W Substitution - Missense 1:37481804-37481804 + TCGA-EK-A2RO-01 COSM4848815 c.568G>A p.D190N Substitution - Missense 1:37480414-37480414 + TCGA-AC-A2QI-01 COSM3805095 c.754G>A p.E252K Substitution - Missense 1:37481771-37481771 + TCGA-AP-A051-01 COSM908986 c.645C>T p.R215R Substitution - coding silent 1:37481662-37481662 + TCGA-CJ-4899-01 COSM464547 c.476G>A p.G159D Substitution - Missense 1:37480322-37480322 + TCGA-EE-A20C-06 COSM3489195 c.525C>T p.I175I Substitution - coding silent 1:37480371-37480371 + 2492701 COSM5600876 c.595C>T p.L199L Substitution - coding silent 1:37481612-37481612 + ccRCC-61 COSM1665068 c.1466G>A p.R489Q Substitution - Missense 1:37483277-37483277 + TCGA-HU-A4H4-01 COSM908986 c.645C>T p.R215R Substitution - coding silent 1:37481662-37481662 + TCGA-CJ-5684-01 COSM464548 c.617A>G p.K206R Substitution - Missense 1:37481634-37481634 + PD9592a COSM5782497 c.1492G>C p.V498L Substitution - Missense 1:37483303-37483303 + MedB-1 COSM5622215 c.178T>C p.Y60H Substitution - Missense 1:37475674-37475674 + CRC-19T COSM5481149 c.314A>G p.Q105R Substitution - Missense 1:37475810-37475810 + SNU-175 COSM2081842 c.72C>T p.D24D Substitution - coding silent 1:37475568-37475568 + TCGA-D1-A103-01 COSM908995 c.1426T>C p.S476P Substitution - Missense 1:37483237-37483237 + I2L-P19Ta-Tumor-Biopsy COSM5352441 c.465_467delCTC p.S156delS Deletion - In frame 1:37480311-37480313 + 2492703 COSM5600876 c.595C>T p.L199L Substitution - coding silent 1:37481612-37481612 + TCGA-HC-7210-01 COSM4391763 c.166C>T p.R56W Substitution - Missense 1:37475662-37475662 + TCGA-D9-A6EC-06 COSM4400693 c.79A>G p.S27G Substitution - Missense 1:37475575-37475575 + HCC4 COSM1602330 c.1465C>T p.R489W Substitution - Missense 1:37483276-37483276 + TCGA-AK-3461-01 COSM3360887 c.1664G>C p.S555T Substitution - Missense 1:37483475-37483475 + SW1417 COSM2081862 c.1038C>G p.P346P Substitution - coding silent 1:37482849-37482849 + CN-AML-NR-08-Dx COSM3997508 c.1500C>T p.A500A Substitution - coding silent 1:37483311-37483311 + TCGA-E9-A245-01 COSM1473943 c.1457C>G p.A486G Substitution - Missense 1:37483268-37483268 + TCGA-MY-A5BD-01 COSM4855670 c.472C>A p.R158R Substitution - coding silent 1:37480318-37480318 + TCGA-CG-5728-01 COSM4007563 c.1314G>A p.S438S Substitution - coding silent 1:37483125-37483125 + LC_S41 COSM1185410 c.1378G>A p.E460K Substitution - Missense 1:37483189-37483189 + SNUH_G26_S1 COSM3997508 c.1500C>T p.A500A Substitution - coding silent 1:37483311-37483311 + TCGA-AX-A063-01 COSM908994 c.1396G>T p.A466S Substitution - Missense 1:37483207-37483207 + PCSI_0124_Pa_X COSM4389961 c.956G>A p.R319Q Substitution - Missense 1:37482767-37482767 + TCGA-CD-A4MG-01 COSM4007562 c.1301A>T p.D434V Substitution - Missense 1:37483112-37483112 + PD4201a COSM165675 c.12C>G p.P4P Substitution - coding silent 1:37475508-37475508 + HCC49T COSM1602329 c.1217C>G p.A406G Substitution - Missense 1:37483028-37483028 + TCGA-HU-A4G8-01 COSM4007567 c.1757C>T p.A586V Substitution - Missense 1:37483568-37483568 + Au2 COSM5600876 c.595C>T p.L199L Substitution - coding silent 1:37481612-37481612 + 1604875 COSM140921 c.1066C>T p.R356W Substitution - Missense 1:37482877-37482877 + GHE0776 COSM5713489 c.384delG p.E129fs*7 Deletion - Frameshift 1:37475880-37475880 + STC232 COSM5053465 c.1678C>T p.L560L Substitution - coding silent 1:37483489-37483489 + TCGA-DK-A1A3-01 COSM414946 c.807C>T p.F269F Substitution - coding silent 1:37481824-37481824 + T3503 COSM4742236 c.1407G>A p.T469T Substitution - coding silent 1:37483218-37483218 + pfg129T COSM289619 c.787C>T p.R263W Substitution - Missense 1:37481804-37481804 + SC_9084 COSM5569935 c.1252A>G p.T418A Substitution - Missense 1:37483063-37483063 + TCGA-EI-6883-01 COSM3419194 c.1348C>T p.L450F Substitution - Missense 1:37483159-37483159 + TCGA-DY-A1DC-01 COSM5077421 c.349A>T p.K117* Substitution - Nonsense 1:37475845-37475845 + HCC49 COSM1602329 c.1217C>G p.A406G Substitution - Missense 1:37483028-37483028 + CSCC-55-T COSM4568350 c.1098T>C p.S366S Substitution - coding silent 1:37482909-37482909 + TCGA-AX-A0J1-01 COSM908992 c.1121G>A p.C374Y Substitution - Missense 1:37482932-37482932 + T3064 COSM4742233 c.19G>A p.E7K Substitution - Missense 1:37475515-37475515 + TCGA-BS-A0UF-01 COSM908985 c.598C>T p.R200W Substitution - Missense 1:37481615-37481615 + LOVO COSM2081855 c.729C>T p.N243N Substitution - coding silent 1:37481746-37481746 + TCGA-AD-6889-01 COSM1342371 c.215T>G p.L72R Substitution - Missense 1:37475711-37475711 + TCGA-DG-A2KK-01 COSM4828216 c.238A>G p.T80A Substitution - Missense 1:37475734-37475734 + TCGA-A5-A0GA-01 COSM908989 c.772C>T p.R258C Substitution - Missense 1:37481789-37481789 + SNU-175 COSM2081852 c.621C>A p.I207I Substitution - coding silent 1:37481638-37481638 + TCGA-66-2759-01 COSM680855 c.1364G>A p.G455E Substitution - Missense 1:37483175-37483175 + TCGA-16-0846-01 COSM3400731 c.1464C>T p.G488G Substitution - coding silent 1:37483275-37483275 + TCGA-22-4607-01 COSM680856 c.848G>A p.R283Q Substitution - Missense 1:37482463-37482463 + QC2-33-T2 COSM5654592 c.963delC p.H322fs*47 Deletion - Frameshift 1:37482774-37482774 + TCGA-BR-7851-01 COSM4007565 c.1530A>G p.P510P Substitution - coding silent 1:37483341-37483341 + TCGA-AD-6889-01 COSM1342377 c.1591delC p.P532fs*41 Deletion - Frameshift 1:37483402-37483402 + TCGA-GC-A3RD-01 COSM3789970 c.559C>T p.P187S Substitution - Missense 1:37480405-37480405 + BD13T COSM5504891 c.1639_1640insG p.S548fs*12 Insertion - Frameshift 1:37483450-37483451 + 18 COSM5744662 c.659G>A p.R220Q Substitution - Missense 1:37481676-37481676 + TCGA-G4-6588-01 COSM1342374 c.509delG p.G171fs*60 Deletion - Frameshift 1:37480355-37480355 + HX13T COSM1602330 c.1465C>T p.R489W Substitution - Missense 1:37483276-37483276 + Pat_06_B COSM5846574 c.1322G>C p.G441A Substitution - Missense 1:37483133-37483133 + PTC-7C COSM3997508 c.1500C>T p.A500A Substitution - coding silent 1:37483311-37483311 + TCGA-D1-A17Q-01 COSM908993 c.1313C>T p.S438L Substitution - Missense 1:37483124-37483124 + YURAY COSM5380895 c.1672_1673AC>TT p.T558F Substitution - Missense 1:37483483-37483484 + TCGA-AO-A0J4-01 COSM5832591 c.1032_1033insC p.R347fs*26 Insertion - Frameshift 1:37482843-37482844 + TCGA-D5-6930-01 COSM1342372 c.227C>T p.A76V Substitution - Missense 1:37475723-37475723 + TCGA-AB-2854-03 COSM1317533 c.1409G>A p.G470D Substitution - Missense 1:37483220-37483220 + LIM2405 COSM4613355 c.1033delC p.R347fs*22 Deletion - Frameshift 1:37482844-37482844 + TCGA-CM-4743-01 COSM1342375 c.608_610delAGA p.K206delK Deletion - In frame 1:37481625-37481627 + 2492700 COSM5600876 c.595C>T p.L199L Substitution - coding silent 1:37481612-37481612 + TCGA-A7-A0CD-01 COSM426207 c.185delC p.T63fs*24 Deletion - Frameshift 1:37475681-37475681 + TCGA-BR-8591-01 COSM4007564 c.1314G>T p.S438S Substitution - coding silent 1:37483125-37483125 + TCGA-G9-6351-01 COSM3671747 c.1572C>A p.P524P Substitution - coding silent 1:37483383-37483383 + ESCC_BICR_041T COSM5441230 c.543C>G p.S181S Substitution - coding silent 1:37480389-37480389 + TCGA-FR-A3YN-06 COSM2081853 c.641G>A p.R214Q Substitution - Missense 1:37481658-37481658 + CSCC-29-T COSM4516107 c.1581_1582CC>TT p.L528F Substitution - Missense 1:37483392-37483393 + TCGA-AP-A051-01 COSM908987 c.668G>A p.C223Y Substitution - Missense 1:37481685-37481685 + LS411 COSM2081844 c.172C>T p.L58L Substitution - coding silent 1:37475668-37475668 + I2L-P19Ta-Tumor-Organoid COSM5352441 c.465_467delCTC p.S156delS Deletion - In frame 1:37480311-37480313 + SNUH_G16_S1 COSM3997508 c.1500C>T p.A500A Substitution - coding silent 1:37483311-37483311 + HCC4T COSM1602330 c.1465C>T p.R489W Substitution - Missense 1:37483276-37483276 + 2334188 COSM324364 c.555G>C p.E185D Substitution - Missense 1:37480401-37480401 + tumor_4120193 COSM3774461 c.103G>A p.G35S Substitution - Missense 1:37475599-37475599 + I2L-P19Ta-Tumor-Biopsy COSM4613355 c.1033delC p.R347fs*22 Deletion - Frameshift 1:37482844-37482844 + TCGA-HU-A4GU-01 COSM4007560 c.8G>A p.G3D Substitution - Missense 1:37475504-37475504 + 19 COSM5745614 c.232A>G p.T78A Substitution - Missense 1:37475728-37475728 + CSCC-56-T COSM4466448 c.1435C>T p.P479S Substitution - Missense 1:37483246-37483246 + PTC_285 COSM5958856 c.841delC p.L281fs*88 Deletion - Frameshift 1:37482456-37482456 + TCGA-13-0905-01 COSM73338 c.1664G>A p.S555N Substitution - Missense 1:37483475-37483475 + CHC442T COSM5419657 c.1249C>T p.P417S Substitution - Missense 1:37483060-37483060 + TCGA-P4-A5E7-01 COSM3985023 c.1633A>T p.R545W Substitution - Missense 1:37483444-37483444 + TCGA-BS-A0TA-01 COSM908991 c.1030T>C p.S344P Substitution - Missense 1:37482841-37482841 + TCGA-BR-8382-01 COSM4007566 c.1635G>T p.R545S Substitution - Missense 1:37483446-37483446 + CHEWS001 COSM2081876 c.1626G>A p.P542P Substitution - coding silent 1:37483437-37483437 + SNU-175 COSM2081877 c.1656G>A p.E552E Substitution - coding silent 1:37483467-37483467 + SJHGG024_R COSM4969510 c.78C>G p.H26Q Substitution - Missense 1:37475574-37475574 + 2492702 COSM5600876 c.595C>T p.L199L Substitution - coding silent 1:37481612-37481612 + TCGA-JW-A852-01 COSM4823690 c.643C>T p.R215C Substitution - Missense 1:37481660-37481660 + sysucc-311T COSM5478597 c.1132G>A p.G378R Substitution - Missense 1:37482943-37482943 + SJHGG024_D COSM4969510 c.78C>G p.H26Q Substitution - Missense 1:37475574-37475574 + 587342 COSM1233184 c.1586A>G p.Q529R Substitution - Missense 1:37483397-37483397 + TCGA-GC-A3RD-01 COSM3789969 c.450G>T p.G150G Substitution - coding silent 1:37480296-37480296 + I2L-P19Ta-Tumor-Organoid COSM4613355 c.1033delC p.R347fs*22 Deletion - Frameshift 1:37482844-37482844 + S01366 COSM5667923 c.1698G>A p.P566P Substitution - coding silent 1:37483509-37483509 + cSCCP4 COSM138187 c.182C>T p.S61L Substitution - Missense 1:37475678-37475678 + TCGA-18-3414-01 COSM680857 c.606G>T p.L202L Substitution - coding silent 1:37481623-37481623 + TCGA-C5-A1MJ-01 COSM4842844 c.1324T>C p.S442P Substitution - Missense 1:37483135-37483135 + TCGA-G2-A2ES-01 COSM1296372 c.150G>T p.M50I Substitution - Missense 1:37475646-37475646 + TCGA-B5-A11I-01 COSM908988 c.729C>G p.N243K Substitution - Missense 1:37481746-37481746 + tumor_4105746 COSM5946347 c.179A>C p.Y60S Substitution - Missense 1:37475675-37475675 + TCGA-AN-A0AK-01 COSM3805096 c.1711G>A p.A571T Substitution - Missense 1:37483522-37483522 + TCGA-FD-A3B3-01 COSM1296373 c.717C>T p.I239I Substitution - coding silent 1:37481734-37481734 + TCGA-A5-A0GH-01 COSM908983 c.201C>T p.S67S Substitution - coding silent 1:37475697-37475697 + TCGA-EE-A3AC-06 COSM3489197 c.740G>C p.R247P Substitution - Missense 1:37481757-37481757 + TCGA-D3-A2JK-06 COSM3489196 c.676G>A p.D226N Substitution - Missense 1:37481693-37481693 + TCGA-GC-A3RD-01 COSM464547 c.476G>A p.G159D Substitution - Missense 1:37480322-37480322 + TCGA-EE-A181-06 COSM3489194 c.355C>T p.P119S Substitution - Missense 1:37475851-37475851 + TCGA-06-0130-01 COSM3400730 c.1316G>A p.G439D Substitution - Missense 1:37483127-37483127 + T578 COSM4742235 c.1360C>T p.R454* Substitution - Nonsense 1:37483171-37483171 + TCGA-AP-A059-01 COSM908990 c.939C>A p.T313T Substitution - coding silent 1:37482750-37482750 + ATL090 COSM5705436 c.352_353insCT p.P119fs*18 Insertion - Frameshift 1:37475848-37475849 + TCGA-AP-A059-01 COSM908984 c.525C>A p.I175I Substitution - coding silent 1:37480371-37480371 + TCGA-A6-6781-01 COSM414946 c.807C>T p.F269F Substitution - coding silent 1:37481824-37481824 + T1154 COSM4742234 c.640C>T p.R214* Substitution - Nonsense 1:37481657-37481657 + TCGA-HU-8602-01 COSM4007561 c.1203A>G p.S401S Substitution - coding silent 1:37483014-37483014 + TCGA-13-1410-01 COSM73337 c.505G>A p.E169K Substitution - Missense 1:37480351-37480351 + TCGA-DC-4745-01 COSM1342375 c.608_610delAGA p.K206delK Deletion - In frame 1:37481625-37481627 + tumor_4105746 COSM5946557 c.144G>A p.L48L Substitution - coding silent 1:37475640-37475640 + TCGA-AD-6964-01 COSM1342379 c.1664G>T p.S555I Substitution - Missense 1:37483475-37483475 + CN-AML-08-T COSM3997508 c.1500C>T p.A500A Substitution - coding silent 1:37483311-37483311 + pfg008T COSM4753071 c.1469C>T p.A490V Substitution - Missense 1:37483280-37483280 + CSCC-49-T COSM4449430 c.228delA p.D77fs*10 Deletion - Frameshift 1:37475724-37475724 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.656276;Hs.656278;Hs.656281;Hs.656283;Hs.656284;Hs.656285;Hs.656287;Hs.656288;Hs.656289;Hs.656290;Hs.656291;Hs.656292;Hs.656293;Hs.656294 1p34.3 610562 2489558|CGAP|BC005001|C/T|non-coding||2564|Candidate; 2489559|CGAP|BC005001|A/C|non-coding||2129|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C - Frameshift p.T63Rfs*24 c.186delC 1 37941282 BRCA C G Missense p.A486G c.1457C>G 1 37948869 BRCA C G Missense p.N243K c.729C>G 1 37947347 UCEC C G Synonymous p.P4P c.12C>G 1 37941109 BRCA C T Missense p.H567Y c.1699C>T 1 37949111 STAD C T Missense p.P119S c.355C>T 1 37941452 CM C T Missense p.R247C c.739C>T 1 37947357 COREAD C T Missense p.R258C c.772C>T 1 37947390 UCEC C T Missense p.R263W c.787C>T 1 37947405 COREAD C T Missense p.R56W c.166C>T 1 37941263 PRAD C T Synonymous p.F269F c.807C>T 1 37947425 BLCA C T Synonymous p.G488G c.1464C>T 1 37948876 GBM C T Synonymous p.I175I c.525C>T 1 37945972 CM C T Synonymous p.I239I c.717C>T 1 37947335 BLCA C T Synonymous p.S67S c.201C>T 1 37941298 UCEC G A 5-UTRSNV . c.1-25G>A 1 37941073 RCCC G A IntronicSNV . c.926-41G>A 1 37948297 CM G A Missense p.A482T c.1444G>A 1 37948856 STAD G A Missense p.D226N c.676G>A 1 37947294 CM G A Missense p.E169K c.505G>A 1 37945952 OV G A Missense p.G439D c.1316G>A 1 37948728 GBM G A Missense p.G455E c.1364G>A 1 37948776 LUSC G A Missense p.R283Q c.848G>A 1 37948064 LUSC G A Missense p.S555N c.1664G>A 1 37949076 OV G A Synonymous p.E261E c.783G>A 1 37947401 CM G A Synonymous p.Q446Q c.1338G>A 1 37948750 HNSC G A Synonymous p.S438S c.1314G>A 1 37948726 STAD G C Missense p.D141H c.421G>C 1 37941518 HNSC G C Missense p.E185D c.555G>C 1 37946002 SCLC G C Missense p.R247P c.740G>C 1 37947358 CM G C Missense p.S555T c.1664G>C 1 37949076 RCCC G C Synonymous p.V572V c.1716G>C 1 37949128 HNSC G T Missense p.A466S c.1396G>T 1 37948808 UCEC G T Missense p.M50I c.150G>T 1 37941247 BLCA G T Synonymous p.L202L c.606G>T 1 37947224 LUSC