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 2 46986049 46986049 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr2:46986049C>T c.380C>T c.(379-381)tCc>tTc p.S127F BLCA 2 46986631 46986631 + Missense_Mutation SNP A A T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr2:46986631A>T c.962A>T c.(961-963)aAt>aTt p.N321I BLCA 2 46986916 46986916 + Missense_Mutation SNP C C T TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr2:46986916C>T c.1247C>T c.(1246-1248)tCt>tTt p.S416F BRCA 2 46985893 46985893 + Missense_Mutation SNP C C A TCGA-B6-A0WX-01A-11D-A10G-09 TCGA-B6-A0WX-10A-01D-A10G-09 g.chr2:46985893C>A c.224C>A c.(223-225)tCt>tAt p.S75Y CESC 2 46985885 46985885 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr2:46985885G>A c.216G>A c.(214-216)tcG>tcA p.S72S CESC 2 46986242 46986242 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr2:46986242G>C c.573G>C c.(571-573)atG>atC p.M191I COAD 2 46985800 46985800 + Missense_Mutation SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr2:46985800A>G c.131A>G c.(130-132)aAc>aGc p.N44S COAD 2 46985922 46985922 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:46985922G>A c.253G>A c.(253-255)Gaa>Aaa p.E85K COAD 2 46985951 46985951 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:46985951C>T c.282C>T c.(280-282)atC>atT p.I94I COAD 2 46985968 46985968 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:46985968C>A c.299C>A c.(298-300)tCt>tAt p.S100Y COAD 2 46986015 46986015 + Nonsense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:46986015C>T c.346C>T c.(346-348)Cga>Tga p.R116* COAD 2 46986033 46986033 + Missense_Mutation SNP G G T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr2:46986033G>T c.364G>T c.(364-366)Ggg>Tgg p.G122W COAD 2 46986034 46986034 + Missense_Mutation SNP G G T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr2:46986034G>T c.365G>T c.(364-366)gGg>gTg p.G122V COAD 2 46986077 46986077 + Missense_Mutation SNP G G T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr2:46986077G>T c.408G>T c.(406-408)ttG>ttT p.L136F COAD 2 46986132 46986132 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:46986132C>T c.463C>T c.(463-465)Cgc>Tgc p.R155C COAD 2 46986141 46986141 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:46986141G>A c.472G>A c.(472-474)Gta>Ata p.V158I COAD 2 46986986 46986986 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:46986986C>T c.1317C>T c.(1315-1317)ttC>ttT p.F439F COAD 2 46987060 46987060 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:46987060C>T c.1391C>T c.(1390-1392)tCg>tTg p.S464L COADREAD 2 46985800 46985800 + Missense_Mutation SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr2:46985800A>G c.131A>G c.(130-132)aAc>aGc p.N44S COADREAD 2 46985922 46985922 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:46985922G>A c.253G>A c.(253-255)Gaa>Aaa p.E85K COADREAD 2 46985951 46985951 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:46985951C>T c.282C>T c.(280-282)atC>atT p.I94I COADREAD 2 46985968 46985968 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:46985968C>A c.299C>A c.(298-300)tCt>tAt p.S100Y COADREAD 2 46986015 46986015 + Nonsense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:46986015C>T c.346C>T c.(346-348)Cga>Tga p.R116* COADREAD 2 46986033 46986033 + Missense_Mutation SNP G G T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr2:46986033G>T c.364G>T c.(364-366)Ggg>Tgg p.G122W COADREAD 2 46986034 46986034 + Missense_Mutation SNP G G T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr2:46986034G>T c.365G>T c.(364-366)gGg>gTg p.G122V COADREAD 2 46986077 46986077 + Missense_Mutation SNP G G T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr2:46986077G>T c.408G>T c.(406-408)ttG>ttT p.L136F COADREAD 2 46986132 46986132 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:46986132C>T c.463C>T c.(463-465)Cgc>Tgc p.R155C COADREAD 2 46986141 46986141 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:46986141G>A c.472G>A c.(472-474)Gta>Ata p.V158I COADREAD 2 46986986 46986986 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:46986986C>T c.1317C>T c.(1315-1317)ttC>ttT p.F439F COADREAD 2 46987060 46987060 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:46987060C>T c.1391C>T c.(1390-1392)tCg>tTg p.S464L COADREAD 2 46987060 46987060 + Missense_Mutation SNP C C T TCGA-AG-A02G-01A-01W-A00E-09 TCGA-AG-A02G-10A-01W-A00E-09 g.chr2:46987060C>T c.1391C>T c.(1390-1392)tCg>tTg p.S464L COADREAD 2 46987240 46987240 + Missense_Mutation SNP G G C TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr2:46987240G>C c.1571G>C c.(1570-1572)aGa>aCa p.R524T ESCA 2 46986133 46986133 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 g.chr2:46986133G>C c.464G>C c.(463-465)cGc>cCc p.R155P ESCA 2 46986468 46986468 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr2:46986468A>G c.799A>G c.(799-801)Aga>Gga p.R267G ESCA 2 46986968 46986968 + Missense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 g.chr2:46986968G>T c.1299G>T c.(1297-1299)tgG>tgT p.W433C ESCA 2 46986990 46986990 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:46986990G>A c.1321G>A c.(1321-1323)Gcc>Acc p.A441T GBM 2 46987001 46987001 + Silent SNP G G T TCGA-28-5207-01A-01D-1486-08 TCGA-28-5207-10A-01D-1486-08 g.chr2:46987001G>T c.1332G>T c.(1330-1332)ccG>ccT p.P444P GBMLGG 2 46985884 46985884 + Nonsense_Mutation SNP C C A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 g.chr2:46985884C>A c.215C>A c.(214-216)tCg>tAg p.S72* GBMLGG 2 46986948 46986948 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:46986948C>T c.1279C>T c.(1279-1281)Cat>Tat p.H427Y GBMLGG 2 46987001 46987001 + Silent SNP G G T TCGA-28-5207-01A-01D-1486-08 TCGA-28-5207-10A-01D-1486-08 g.chr2:46987001G>T c.1332G>T c.(1330-1332)ccG>ccT p.P444P HNSC 2 46986106 46986106 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr2:46986106G>A c.437G>A c.(436-438)cGa>cAa p.R146Q HNSC 2 46986576 46986576 + Missense_Mutation SNP T T G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 g.chr2:46986576T>G c.907T>G c.(907-909)Tta>Gta p.L303V HNSC 2 46986870 46986870 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr2:46986870G>T c.1201G>T c.(1201-1203)Ggc>Tgc p.G401C HNSC 2 46986940 46986940 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 g.chr2:46986940G>C c.1271G>C c.(1270-1272)aGa>aCa p.R424T HNSC 2 46986960 46986960 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr2:46986960G>C c.1291G>C c.(1291-1293)Gag>Cag p.E431Q HNSC 2 46987083 46987083 + Missense_Mutation SNP C C T TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr2:46987083C>T c.1414C>T c.(1414-1416)Ctt>Ttt p.L472F KIPAN 2 46986775 46986775 + Missense_Mutation SNP T T C TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr2:46986775T>C c.1106T>C c.(1105-1107)cTc>cCc p.L369P KIRP 2 46986775 46986775 + Missense_Mutation SNP T T C TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr2:46986775T>C c.1106T>C c.(1105-1107)cTc>cCc p.L369P LGG 2 46985884 46985884 + Nonsense_Mutation SNP C C A TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 g.chr2:46985884C>A c.215C>A c.(214-216)tCg>tAg p.S72* LGG 2 46986948 46986948 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:46986948C>T c.1279C>T c.(1279-1281)Cat>Tat p.H427Y LIHC 2 46986955 46986955 + Missense_Mutation SNP G G A TCGA-K7-A5RG-01A-11D-A28X-10 TCGA-K7-A5RG-10A-01D-A28X-10 g.chr2:46986955G>A c.1286G>A c.(1285-1287)cGa>cAa p.R429Q LIHC 2 46986966 46986966 + Missense_Mutation SNP T T C TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr2:46986966T>C c.1297T>C c.(1297-1299)Tgg>Cgg p.W433R LUAD 2 46986015 46986015 + Nonsense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr2:46986015C>T c.346C>T c.(346-348)Cga>Tga p.R116* LUAD 2 46986062 46986062 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 g.chr2:46986062G>T c.393G>T c.(391-393)aaG>aaT p.K131N LUAD 2 46986074 46986074 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr2:46986074A>T c.405A>T c.(403-405)tcA>tcT p.S135S LUAD 2 46986084 46986084 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 g.chr2:46986084G>C c.415G>C c.(415-417)Gat>Cat p.D139H LUAD 2 46986215 46986215 + Silent SNP G G A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr2:46986215G>A c.546G>A c.(544-546)caG>caA p.Q182Q LUAD 2 46986247 46986247 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 g.chr2:46986247C>T c.578C>T c.(577-579)aCt>aTt p.T193I LUAD 2 46986306 46986306 + Silent SNP T T C TCGA-55-A48Z-01A-12D-A24P-08 TCGA-55-A48Z-10A-01D-A24P-08 g.chr2:46986306T>C c.637T>C c.(637-639)Tta>Cta p.L213L LUAD 2 46986566 46986566 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr2:46986566G>C c.897G>C c.(895-897)ctG>ctC p.L299L LUAD 2 46986645 46986645 + Nonsense_Mutation SNP G G T TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr2:46986645G>T c.976G>T c.(976-978)Gag>Tag p.E326* LUAD 2 46986926 46986926 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 g.chr2:46986926C>T c.1257C>T c.(1255-1257)ttC>ttT p.F419F LUAD 2 46987117 46987117 + Missense_Mutation SNP G G T TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chr2:46987117G>T c.1448G>T c.(1447-1449)aGc>aTc p.S483I LUAD 2 46987135 46987135 + Missense_Mutation SNP G G A TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 g.chr2:46987135G>A c.1466G>A c.(1465-1467)cGc>cAc p.R489H LUSC 2 46985978 46985978 + Silent SNP C C A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr2:46985978C>A c.309C>A c.(307-309)acC>acA p.T103T LUSC 2 46986423 46986423 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:46986423C>T c.754C>T c.(754-756)Cca>Tca p.P252S LUSC 2 46986955 46986955 + Missense_Mutation SNP G G T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr2:46986955G>T c.1286G>T c.(1285-1287)cGa>cTa p.R429L LUSC 2 46987060 46987060 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:46987060C>T c.1391C>T c.(1390-1392)tCg>tTg p.S464L OV 2 46985991 46985991 + Missense_Mutation SNP C C G TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 g.chr2:46985991C>G c.322C>G c.(322-324)Ctt>Gtt p.L108V OV 2 46986359 46986359 + Nonsense_Mutation SNP G G A TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chr2:46986359G>A c.690G>A c.(688-690)tgG>tgA p.W230* OV 2 46986955 46986955 + Missense_Mutation SNP G G A TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 g.chr2:46986955G>A c.1286G>A c.(1285-1287)cGa>cAa p.R429Q PAAD 2 46986474 46986474 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:46986474C>T c.805C>T c.(805-807)Cgg>Tgg p.R269W PAAD 2 46986955 46986955 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 g.chr2:46986955G>A c.1286G>A c.(1285-1287)cGa>cAa p.R429Q PAAD 2 46987060 46987060 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:46987060C>T c.1391C>T c.(1390-1392)tCg>tTg p.S464L PAAD 2 46987120 46987120 + Missense_Mutation SNP T T C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr2:46987120T>C c.1451T>C c.(1450-1452)cTg>cCg p.L484P PCPG 2 46986916 46986916 + Missense_Mutation SNP C C A TCGA-SQ-A6I4-01A-11D-A35I-08 TCGA-SQ-A6I4-10A-01D-A35G-08 g.chr2:46986916C>A c.1247C>A c.(1246-1248)tCt>tAt p.S416Y PRAD 2 46985998 46985998 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 g.chr2:46985998G>A c.329G>A c.(328-330)cGa>cAa p.R110Q PRAD 2 46986141 46986141 + Missense_Mutation SNP G G A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 g.chr2:46986141G>A c.472G>A c.(472-474)Gta>Ata p.V158I READ 2 46987060 46987060 + Missense_Mutation SNP C C T TCGA-AG-A02G-01A-01W-A00E-09 TCGA-AG-A02G-10A-01W-A00E-09 g.chr2:46987060C>T c.1391C>T c.(1390-1392)tCg>tTg p.S464L READ 2 46987240 46987240 + Missense_Mutation SNP G G C TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr2:46987240G>C c.1571G>C c.(1570-1572)aGa>aCa p.R524T SKCM 2 46985927 46985927 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:46985927C>T c.258C>T c.(256-258)atC>atT p.I86I SKCM 2 46986117 46986117 + Nonsense_Mutation SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr2:46986117C>T c.448C>T c.(448-450)Caa>Taa p.Q150* SKCM 2 46986148 46986148 + Missense_Mutation SNP C C G TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr2:46986148C>G c.479C>G c.(478-480)tCt>tGt p.S160C SKCM 2 46986807 46986807 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:46986807C>T c.1138C>T c.(1138-1140)Ccc>Tcc p.P380S SKCM 2 46986972 46986972 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr2:46986972C>T c.1303C>T c.(1303-1305)Cac>Tac p.H435Y SKCM 2 46986993 46986993 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:46986993C>T c.1324C>T c.(1324-1326)Cat>Tat p.H442Y SKCM 2 46987053 46987053 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:46987053C>T c.1384C>T c.(1384-1386)Ccc>Tcc p.P462S SKCM 2 46987054 46987054 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr2:46987054C>T c.1385C>T c.(1384-1386)cCc>cTc p.P462L SKCM 2 46987134 46987134 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:46987134C>T c.1465C>T c.(1465-1467)Cgc>Tgc p.R489C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 2 46986777 46986777 single base substitution G A missense_variant V370M 1108G>A BLCA-CN 2 46986279 46986279 single base substitution A G missense_variant N204D 610A>G BLCA-US 2 46986049 46986049 single base substitution C T missense_variant S127F 380C>T BOCA-FR 2 46968736 46968736 single base substitution C A intron_variant BRCA-EU 2 46921539 46921539 single base substitution G C upstream_gene_variant BRCA-EU 2 46921891 46921891 single base substitution T C upstream_gene_variant BRCA-EU 2 46922506 46922506 single base substitution C T upstream_gene_variant BRCA-EU 2 46922988 46922988 single base substitution G T upstream_gene_variant BRCA-EU 2 46924936 46924936 single base substitution C A upstream_gene_variant BRCA-EU 2 46926338 46926338 single base substitution G A 5_prime_UTR_variant BRCA-EU 2 46926338 46926338 single base substitution G A intron_variant BRCA-EU 2 46927184 46927184 single base substitution G A intron_variant BRCA-EU 2 46927273 46927273 single base substitution A T intron_variant BRCA-EU 2 46929928 46929928 single base substitution T A intron_variant BRCA-EU 2 46933380 46933380 single base substitution A T intron_variant BRCA-EU 2 46934667 46934667 single base substitution C G intron_variant BRCA-EU 2 46935109 46935109 single base substitution G C intron_variant BRCA-EU 2 46935489 46935489 single base substitution A G intron_variant BRCA-EU 2 46939284 46939284 single base substitution C T intron_variant BRCA-EU 2 46939340 46939342 deletion of <=200bp TCT - intron_variant BRCA-EU 2 46941011 46941011 single base substitution T G intron_variant BRCA-EU 2 46942029 46942029 single base substitution C G intron_variant BRCA-EU 2 46942038 46942038 deletion of <=200bp T - intron_variant BRCA-EU 2 46942746 46942746 single base substitution C G intron_variant BRCA-EU 2 46942792 46942792 single base substitution G A intron_variant BRCA-EU 2 46944364 46944364 single base substitution C T intron_variant BRCA-EU 2 46944666 46944666 deletion of <=200bp T - intron_variant BRCA-EU 2 46946968 46946968 single base substitution T A intron_variant BRCA-EU 2 46949919 46949919 single base substitution C G intron_variant BRCA-EU 2 46950328 46950375 deletion of <=200bp TATGGGTGGTACTTTCGGTGTCATGTCTAAAAATTCTTTGCTTCACTC - intron_variant BRCA-EU 2 46952286 46952286 single base substitution G C intron_variant BRCA-EU 2 46952503 46952503 single base substitution A T intron_variant BRCA-EU 2 46952801 46952801 insertion of <=200bp - T intron_variant BRCA-EU 2 46954450 46954450 single base substitution C G intron_variant BRCA-EU 2 46954646 46954646 single base substitution C T intron_variant BRCA-EU 2 46955079 46955079 deletion of <=200bp A - intron_variant BRCA-EU 2 46956189 46956189 single base substitution G A intron_variant BRCA-EU 2 46956604 46956604 single base substitution C G intron_variant BRCA-EU 2 46958562 46958562 single base substitution C T intron_variant BRCA-EU 2 46959022 46959022 single base substitution A T intron_variant BRCA-EU 2 46960159 46960159 single base substitution C G intron_variant BRCA-EU 2 46960618 46960618 deletion of <=200bp G - intron_variant BRCA-EU 2 46960844 46960844 single base substitution G C intron_variant BRCA-EU 2 46961213 46961213 single base substitution T C intron_variant BRCA-EU 2 46961256 46961256 single base substitution C T intron_variant BRCA-EU 2 46962354 46962354 single base substitution G A intron_variant BRCA-EU 2 46962472 46962472 single base substitution A G intron_variant BRCA-EU 2 46964049 46964049 single base substitution T G intron_variant BRCA-EU 2 46964069 46964069 single base substitution G C intron_variant BRCA-EU 2 46965459 46965459 single base substitution A G intron_variant BRCA-EU 2 46966587 46966587 single base substitution G A intron_variant BRCA-EU 2 46966913 46966913 single base substitution C G intron_variant BRCA-EU 2 46967668 46967668 single base substitution C G intron_variant BRCA-EU 2 46968564 46968564 single base substitution C A intron_variant BRCA-EU 2 46969784 46969784 single base substitution A C intron_variant BRCA-EU 2 46969814 46969814 deletion of <=200bp T - intron_variant BRCA-EU 2 46969862 46969862 single base substitution T C intron_variant BRCA-EU 2 46969989 46969989 single base substitution G C intron_variant BRCA-EU 2 46977495 46977495 deletion of <=200bp T - intron_variant BRCA-EU 2 46978488 46978488 single base substitution G C intron_variant BRCA-EU 2 46978595 46978595 insertion of <=200bp - T intron_variant BRCA-EU 2 46978796 46978796 single base substitution C A intron_variant BRCA-EU 2 46981742 46981742 single base substitution G C intron_variant BRCA-EU 2 46981939 46981939 single base substitution C T intron_variant BRCA-EU 2 46985200 46985200 single base substitution G A intron_variant BRCA-EU 2 46986133 46986133 single base substitution G A missense_variant R155H 464G>A BRCA-EU 2 46986474 46986474 single base substitution C T missense_variant R269W 805C>T BRCA-EU 2 46987210 46987210 single base substitution T A stop_gained L514* 1541T>A BRCA-EU 2 46988133 46988133 single base substitution A T 3_prime_UTR_variant BRCA-EU 2 46988884 46988884 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 46989230 46989230 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 46989420 46989420 single base substitution A G 3_prime_UTR_variant BRCA-EU 2 46990431 46990431 single base substitution T C downstream_gene_variant BRCA-EU 2 46990797 46990797 single base substitution A G downstream_gene_variant BRCA-EU 2 46990904 46990904 single base substitution G C downstream_gene_variant BRCA-EU 2 46991149 46991149 single base substitution G C downstream_gene_variant BRCA-EU 2 46992037 46992037 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 46992261 46992261 single base substitution A T downstream_gene_variant BRCA-EU 2 46992792 46992792 single base substitution C T downstream_gene_variant BRCA-EU 2 46992880 46992880 single base substitution C T downstream_gene_variant BRCA-EU 2 46995264 46995267 deletion of <=200bp TATT - downstream_gene_variant BRCA-FR 2 46926338 46926338 single base substitution G A 5_prime_UTR_variant BRCA-FR 2 46926338 46926338 single base substitution G A intron_variant BRCA-FR 2 46962354 46962354 single base substitution G A intron_variant BRCA-FR 2 46964069 46964069 single base substitution G C intron_variant BRCA-FR 2 46969989 46969989 single base substitution G C intron_variant BRCA-FR 2 46986133 46986133 single base substitution G A missense_variant R155H 464G>A BRCA-FR 2 46988133 46988133 single base substitution A T 3_prime_UTR_variant BRCA-KR 2 46986436 46986436 single base substitution C G missense_variant S256C 767C>G BRCA-UK 2 46985200 46985200 single base substitution G A intron_variant BRCA-US 2 46985893 46985893 single base substitution C A missense_variant S75Y 224C>A BTCA-JP 2 46986122 46986122 single base substitution G A synonymous_variant R151R 453G>A CESC-US 2 46985885 46985885 single base substitution G A synonymous_variant S72S 216G>A CESC-US 2 46986242 46986242 single base substitution G C missense_variant M191I 573G>C CLLE-ES 2 46965971 46965971 single base substitution A G intron_variant COAD-US 2 46985800 46985800 single base substitution A G missense_variant N44S 131A>G COAD-US 2 46985922 46985922 single base substitution G A missense_variant E85K 253G>A COAD-US 2 46985951 46985951 single base substitution C T synonymous_variant I94I 282C>T COAD-US 2 46985968 46985968 single base substitution C A missense_variant S100Y 299C>A COAD-US 2 46986015 46986015 single base substitution C T stop_gained R116* 346C>T COAD-US 2 46986077 46986077 single base substitution G T missense_variant L136F 408G>T COAD-US 2 46986141 46986141 single base substitution G A missense_variant V158I 472G>A COAD-US 2 46986416 46986416 single base substitution A G synonymous_variant T249T 747A>G COAD-US 2 46986776 46986776 single base substitution C T synonymous_variant L369L 1107C>T COAD-US 2 46988713 46988713 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 2 46922294 46922294 single base substitution T A upstream_gene_variant ESAD-UK 2 46929384 46929384 single base substitution T C intron_variant ESAD-UK 2 46933319 46933319 single base substitution C T intron_variant ESAD-UK 2 46939722 46939722 single base substitution C T intron_variant ESAD-UK 2 46940042 46940042 insertion of <=200bp - T intron_variant ESAD-UK 2 46944701 46944701 single base substitution C T intron_variant ESAD-UK 2 46946324 46946324 single base substitution A G intron_variant ESAD-UK 2 46947841 46947841 deletion of <=200bp C - intron_variant ESAD-UK 2 46950053 46950053 single base substitution C T intron_variant ESAD-UK 2 46950556 46950556 single base substitution T A intron_variant ESAD-UK 2 46951376 46951376 single base substitution T C intron_variant ESAD-UK 2 46954379 46954379 single base substitution C A intron_variant ESAD-UK 2 46955279 46955279 insertion of <=200bp - C intron_variant ESAD-UK 2 46956619 46956619 single base substitution G A intron_variant ESAD-UK 2 46957411 46957411 single base substitution G T intron_variant ESAD-UK 2 46957718 46957718 single base substitution G A intron_variant ESAD-UK 2 46958816 46958816 single base substitution G A intron_variant ESAD-UK 2 46967929 46967929 single base substitution A G intron_variant ESAD-UK 2 46968427 46968427 single base substitution G A intron_variant ESAD-UK 2 46968428 46968428 single base substitution G T intron_variant ESAD-UK 2 46968518 46968518 single base substitution C T intron_variant ESAD-UK 2 46968634 46968634 single base substitution A T intron_variant ESAD-UK 2 46970112 46970112 single base substitution C T intron_variant ESAD-UK 2 46970971 46970971 single base substitution G T intron_variant ESAD-UK 2 46971343 46971343 single base substitution G C intron_variant ESAD-UK 2 46971834 46971834 single base substitution T C intron_variant ESAD-UK 2 46973467 46973467 single base substitution C T intron_variant ESAD-UK 2 46975752 46975752 deletion of <=200bp T - intron_variant ESAD-UK 2 46979048 46979048 single base substitution T C intron_variant ESAD-UK 2 46980031 46980031 single base substitution C G intron_variant ESAD-UK 2 46981353 46981353 single base substitution A G intron_variant ESAD-UK 2 46982815 46982815 single base substitution C T intron_variant ESAD-UK 2 46989368 46989368 single base substitution G T 3_prime_UTR_variant ESAD-UK 2 46990385 46990385 single base substitution T G downstream_gene_variant ESAD-UK 2 46992908 46992908 single base substitution G C downstream_gene_variant ESAD-UK 2 46993316 46993316 single base substitution G C downstream_gene_variant ESAD-UK 2 46993437 46993437 single base substitution G C downstream_gene_variant ESAD-UK 2 46994422 46994422 single base substitution C T downstream_gene_variant ESCA-CN 2 46985781 46985781 single base substitution T G missense_variant L38V 112T>G GBM-US 2 46987001 46987001 single base substitution G T synonymous_variant P444P 1332G>T KIRP-US 2 46987222 46987224 deletion of <=200bp ATT - inframe_deletion HY518H LGG-US 2 46985884 46985884 single base substitution C A stop_gained S72* 215C>A LICA-CN 2 46986898 46986898 single base substitution A T missense_variant Q410L 1229A>T LICA-CN 2 46986996 46986996 single base substitution G T missense_variant D443Y 1327G>T LICA-CN 2 46987170 46987170 single base substitution A G missense_variant I501V 1501A>G LICA-FR 2 46927901 46927901 single base substitution G C intron_variant LICA-FR 2 46932863 46932863 single base substitution A T intron_variant LICA-FR 2 46934968 46934968 single base substitution G A intron_variant LICA-FR 2 46962682 46962682 single base substitution A T intron_variant LICA-FR 2 46982674 46982674 single base substitution A T intron_variant LICA-FR 2 46982836 46982836 single base substitution A G intron_variant LICA-FR 2 46985776 46985776 single base substitution G C missense_variant R36T 107G>C LIHC-US 2 46986955 46986955 single base substitution G A missense_variant R429Q 1286G>A LINC-JP 2 46936652 46936652 single base substitution A C intron_variant LINC-JP 2 46944503 46944503 single base substitution T C intron_variant LINC-JP 2 46954979 46954979 single base substitution C G intron_variant LINC-JP 2 46963945 46963945 single base substitution T G intron_variant LINC-JP 2 46965131 46965131 single base substitution T C intron_variant LINC-JP 2 46979308 46979308 deletion of <=200bp T - intron_variant LINC-JP 2 46987091 46987091 single base substitution A G missense_variant I474M 1422A>G LIRI-JP 2 46922606 46922606 single base substitution C T upstream_gene_variant LIRI-JP 2 46922705 46922705 deletion of <=200bp G - upstream_gene_variant LIRI-JP 2 46924220 46924220 single base substitution A T upstream_gene_variant LIRI-JP 2 46924602 46924602 single base substitution G C upstream_gene_variant LIRI-JP 2 46928590 46928590 single base substitution T C intron_variant LIRI-JP 2 46929187 46929187 single base substitution A C intron_variant LIRI-JP 2 46938064 46938064 single base substitution A C intron_variant LIRI-JP 2 46938991 46938991 single base substitution C T intron_variant LIRI-JP 2 46939640 46939640 single base substitution G A intron_variant LIRI-JP 2 46940133 46940133 single base substitution C T intron_variant LIRI-JP 2 46940195 46940195 single base substitution T A intron_variant LIRI-JP 2 46946324 46946324 single base substitution A G intron_variant LIRI-JP 2 46946761 46946761 single base substitution C A intron_variant LIRI-JP 2 46947809 46947809 insertion of <=200bp - T intron_variant LIRI-JP 2 46948168 46948168 single base substitution A G intron_variant LIRI-JP 2 46948742 46948742 single base substitution A G intron_variant LIRI-JP 2 46948935 46948935 single base substitution A T intron_variant LIRI-JP 2 46949755 46949755 single base substitution A G intron_variant LIRI-JP 2 46950140 46950140 single base substitution T G intron_variant LIRI-JP 2 46951445 46951445 single base substitution A G intron_variant LIRI-JP 2 46951765 46951765 single base substitution A G intron_variant LIRI-JP 2 46952877 46952877 single base substitution A G intron_variant LIRI-JP 2 46953433 46953433 single base substitution C T intron_variant LIRI-JP 2 46955357 46955357 single base substitution A G intron_variant LIRI-JP 2 46956237 46956237 single base substitution G A intron_variant LIRI-JP 2 46958789 46958789 single base substitution A G intron_variant LIRI-JP 2 46960250 46960250 single base substitution T G intron_variant LIRI-JP 2 46964917 46964917 single base substitution A G intron_variant LIRI-JP 2 46967128 46967128 single base substitution C T intron_variant LIRI-JP 2 46967640 46967640 single base substitution T A intron_variant LIRI-JP 2 46967993 46967993 single base substitution T C intron_variant LIRI-JP 2 46972287 46972287 single base substitution A G intron_variant LIRI-JP 2 46972358 46972358 single base substitution A G intron_variant LIRI-JP 2 46974996 46974996 single base substitution A G intron_variant LIRI-JP 2 46975658 46975658 single base substitution G A intron_variant LIRI-JP 2 46977487 46977487 single base substitution A G intron_variant LIRI-JP 2 46978349 46978349 single base substitution A G intron_variant LIRI-JP 2 46983162 46983162 single base substitution G T intron_variant LIRI-JP 2 46983958 46983958 single base substitution A T intron_variant LIRI-JP 2 46985115 46985115 single base substitution G A intron_variant LIRI-JP 2 46985674 46985674 single base substitution A G missense_variant D2G 5A>G LIRI-JP 2 46985880 46985880 single base substitution C T missense_variant P71S 211C>T LIRI-JP 2 46985995 46985995 single base substitution C T missense_variant A109V 326C>T LIRI-JP 2 46986566 46986566 deletion of <=200bp G - frameshift_variant L299 LIRI-JP 2 46986776 46986776 single base substitution C T synonymous_variant L369L 1107C>T LIRI-JP 2 46987047 46987047 single base substitution A G missense_variant K460E 1378A>G LIRI-JP 2 46987288 46987288 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 46988595 46988595 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 46989325 46989325 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 46989650 46989650 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 46989650 46989650 single base substitution T C downstream_gene_variant LIRI-JP 2 46991062 46991062 single base substitution G C downstream_gene_variant LIRI-JP 2 46991365 46991365 single base substitution G T downstream_gene_variant LIRI-JP 2 46992653 46992653 single base substitution C T downstream_gene_variant LIRI-JP 2 46992674 46992674 single base substitution A G downstream_gene_variant LIRI-JP 2 46992750 46992750 single base substitution T A downstream_gene_variant LIRI-JP 2 46993414 46993414 single base substitution A C downstream_gene_variant LUSC-KR 2 46921731 46921731 single base substitution G A upstream_gene_variant LUSC-KR 2 46923375 46923375 single base substitution G C upstream_gene_variant LUSC-KR 2 46924414 46924414 single base substitution C T upstream_gene_variant LUSC-KR 2 46925092 46925092 single base substitution C A upstream_gene_variant LUSC-KR 2 46933033 46933033 single base substitution G A intron_variant LUSC-KR 2 46933060 46933060 single base substitution A C intron_variant LUSC-KR 2 46934428 46934428 single base substitution A G intron_variant LUSC-KR 2 46938080 46938080 single base substitution A G intron_variant LUSC-KR 2 46944039 46944039 single base substitution G A intron_variant LUSC-KR 2 46946154 46946154 single base substitution G A intron_variant LUSC-KR 2 46958978 46958978 single base substitution A G intron_variant LUSC-KR 2 46972581 46972581 single base substitution A G intron_variant LUSC-KR 2 46975361 46975361 single base substitution G T intron_variant LUSC-KR 2 46975586 46975586 single base substitution A G intron_variant LUSC-KR 2 46976447 46976447 single base substitution G C intron_variant LUSC-KR 2 46987544 46987544 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 46989698 46989698 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 46989698 46989698 single base substitution G A downstream_gene_variant LUSC-KR 2 46992825 46992825 single base substitution C T downstream_gene_variant LUSC-KR 2 46992826 46992826 single base substitution A C downstream_gene_variant LUSC-US 2 46985978 46985978 single base substitution C A synonymous_variant T103T 309C>A LUSC-US 2 46986423 46986423 single base substitution C T missense_variant P252S 754C>T LUSC-US 2 46986955 46986955 single base substitution G T missense_variant R429L 1286G>T LUSC-US 2 46987060 46987060 single base substitution C T missense_variant S464L 1391C>T MALY-DE 2 46925446 46925446 single base substitution C T upstream_gene_variant MALY-DE 2 46928737 46928737 single base substitution G T intron_variant MALY-DE 2 46937844 46937844 single base substitution T G intron_variant MALY-DE 2 46938822 46938822 single base substitution T G intron_variant MALY-DE 2 46939429 46939429 single base substitution T C intron_variant MALY-DE 2 46941781 46941781 single base substitution A C intron_variant MALY-DE 2 46943507 46943519 deletion of <=200bp TTTTTTTTTTTTT - intron_variant MALY-DE 2 46955454 46955454 single base substitution C T intron_variant MALY-DE 2 46960018 46960018 single base substitution A T intron_variant MALY-DE 2 46960355 46960355 single base substitution T C intron_variant MALY-DE 2 46960659 46960659 single base substitution C T intron_variant MALY-DE 2 46965268 46965268 single base substitution A C intron_variant MALY-DE 2 46966226 46966226 single base substitution T G intron_variant MELA-AU 2 46921394 46921394 single base substitution G A upstream_gene_variant MELA-AU 2 46921670 46921670 single base substitution G A upstream_gene_variant MELA-AU 2 46921900 46921900 single base substitution G A upstream_gene_variant MELA-AU 2 46922006 46922006 single base substitution C T upstream_gene_variant MELA-AU 2 46922013 46922013 single base substitution A C upstream_gene_variant MELA-AU 2 46922093 46922093 single base substitution G A upstream_gene_variant MELA-AU 2 46922219 46922219 single base substitution C T upstream_gene_variant MELA-AU 2 46922443 46922443 single base substitution G A upstream_gene_variant MELA-AU 2 46922497 46922497 single base substitution G A upstream_gene_variant MELA-AU 2 46922844 46922844 single base substitution C T upstream_gene_variant MELA-AU 2 46922909 46922909 single base substitution T C upstream_gene_variant MELA-AU 2 46923580 46923580 single base substitution G A upstream_gene_variant MELA-AU 2 46923848 46923848 single base substitution C T upstream_gene_variant MELA-AU 2 46923862 46923862 single base substitution G A upstream_gene_variant MELA-AU 2 46924173 46924173 single base substitution G A upstream_gene_variant MELA-AU 2 46924291 46924291 single base substitution G T upstream_gene_variant MELA-AU 2 46924326 46924326 single base substitution C T upstream_gene_variant MELA-AU 2 46924534 46924534 single base substitution G A upstream_gene_variant MELA-AU 2 46924608 46924608 single base substitution G C upstream_gene_variant MELA-AU 2 46925317 46925317 single base substitution C T upstream_gene_variant MELA-AU 2 46926027 46926027 single base substitution C T upstream_gene_variant MELA-AU 2 46926212 46926212 single base substitution A C 5_prime_UTR_variant MELA-AU 2 46926212 46926212 single base substitution A C upstream_gene_variant MELA-AU 2 46927221 46927221 single base substitution T G intron_variant MELA-AU 2 46927442 46927442 single base substitution T A intron_variant MELA-AU 2 46928035 46928035 single base substitution C G intron_variant MELA-AU 2 46928785 46928785 single base substitution C T intron_variant MELA-AU 2 46929641 46929641 single base substitution C T intron_variant MELA-AU 2 46930072 46930072 single base substitution C T intron_variant MELA-AU 2 46931418 46931418 single base substitution C T intron_variant MELA-AU 2 46931515 46931515 single base substitution A G intron_variant MELA-AU 2 46932642 46932642 single base substitution G A intron_variant MELA-AU 2 46933244 46933244 single base substitution T C intron_variant MELA-AU 2 46934815 46934815 single base substitution T C intron_variant MELA-AU 2 46934955 46934956 multiple base substitution (>=2bp and <=200bp) GA CG intron_variant MELA-AU 2 46935531 46935531 deletion of <=200bp T - intron_variant MELA-AU 2 46935558 46935558 single base substitution A T intron_variant MELA-AU 2 46936372 46936372 single base substitution C T intron_variant MELA-AU 2 46939513 46939513 single base substitution C T intron_variant MELA-AU 2 46939573 46939573 single base substitution C T intron_variant MELA-AU 2 46939605 46939605 single base substitution C T intron_variant MELA-AU 2 46939990 46939990 single base substitution T A intron_variant MELA-AU 2 46940623 46940623 single base substitution C T intron_variant MELA-AU 2 46940857 46940857 single base substitution C T intron_variant MELA-AU 2 46940875 46940875 single base substitution G A intron_variant MELA-AU 2 46942440 46942440 single base substitution T A intron_variant MELA-AU 2 46942549 46942549 single base substitution T C intron_variant MELA-AU 2 46942687 46942687 single base substitution C T intron_variant MELA-AU 2 46943129 46943129 single base substitution C T intron_variant MELA-AU 2 46943426 46943426 single base substitution C T intron_variant MELA-AU 2 46943473 46943473 deletion of <=200bp T - intron_variant MELA-AU 2 46943655 46943655 single base substitution C T intron_variant MELA-AU 2 46944257 46944257 single base substitution C T intron_variant MELA-AU 2 46944258 46944258 single base substitution C T intron_variant MELA-AU 2 46944439 46944439 single base substitution A G intron_variant MELA-AU 2 46944489 46944489 single base substitution C T intron_variant MELA-AU 2 46944802 46944802 single base substitution A G intron_variant MELA-AU 2 46944839 46944839 single base substitution T C intron_variant MELA-AU 2 46945098 46945098 single base substitution C T intron_variant MELA-AU 2 46945261 46945261 single base substitution C T intron_variant MELA-AU 2 46945313 46945313 single base substitution C T intron_variant MELA-AU 2 46945377 46945377 single base substitution A C intron_variant MELA-AU 2 46946075 46946075 single base substitution T C intron_variant MELA-AU 2 46946308 46946308 single base substitution T C intron_variant MELA-AU 2 46946928 46946928 single base substitution C T intron_variant MELA-AU 2 46946976 46946976 single base substitution A G intron_variant MELA-AU 2 46947435 46947435 single base substitution C T intron_variant MELA-AU 2 46947703 46947703 single base substitution C T intron_variant MELA-AU 2 46949184 46949184 single base substitution C T intron_variant MELA-AU 2 46950540 46950540 single base substitution T G intron_variant MELA-AU 2 46951866 46951867 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 2 46952583 46952583 single base substitution C T intron_variant MELA-AU 2 46952846 46952846 single base substitution T C intron_variant MELA-AU 2 46953166 46953166 single base substitution C T intron_variant MELA-AU 2 46953219 46953219 single base substitution G A intron_variant MELA-AU 2 46953260 46953260 single base substitution G A intron_variant MELA-AU 2 46953994 46953994 single base substitution C T intron_variant MELA-AU 2 46954071 46954071 single base substitution T A intron_variant MELA-AU 2 46954094 46954094 single base substitution C T intron_variant MELA-AU 2 46954390 46954390 single base substitution C T intron_variant MELA-AU 2 46954408 46954408 single base substitution C T intron_variant MELA-AU 2 46955132 46955132 single base substitution G A intron_variant MELA-AU 2 46955211 46955212 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 46955581 46955581 single base substitution T C intron_variant MELA-AU 2 46955637 46955637 single base substitution G A intron_variant MELA-AU 2 46955707 46955707 single base substitution C T intron_variant MELA-AU 2 46956398 46956398 single base substitution G A intron_variant MELA-AU 2 46956675 46956675 single base substitution C T intron_variant MELA-AU 2 46957762 46957762 single base substitution T C intron_variant MELA-AU 2 46958295 46958295 single base substitution C T intron_variant MELA-AU 2 46958314 46958314 single base substitution C T intron_variant MELA-AU 2 46958454 46958454 single base substitution G T intron_variant MELA-AU 2 46958468 46958468 single base substitution C T intron_variant MELA-AU 2 46961239 46961239 single base substitution G A intron_variant MELA-AU 2 46961407 46961407 single base substitution T A intron_variant MELA-AU 2 46961848 46961848 single base substitution C T intron_variant MELA-AU 2 46962112 46962112 single base substitution C T intron_variant MELA-AU 2 46962142 46962142 single base substitution C T intron_variant MELA-AU 2 46962208 46962208 single base substitution C T intron_variant MELA-AU 2 46962364 46962364 single base substitution T A intron_variant MELA-AU 2 46962399 46962399 single base substitution C T intron_variant MELA-AU 2 46962423 46962423 single base substitution G A intron_variant MELA-AU 2 46962892 46962892 single base substitution C T intron_variant MELA-AU 2 46963130 46963130 single base substitution C T intron_variant MELA-AU 2 46963937 46963937 single base substitution C T intron_variant MELA-AU 2 46965941 46965941 deletion of <=200bp T - intron_variant MELA-AU 2 46966875 46966875 single base substitution C T intron_variant MELA-AU 2 46968250 46968250 single base substitution C T intron_variant MELA-AU 2 46968502 46968502 single base substitution C T intron_variant MELA-AU 2 46968564 46968565 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 46968826 46968826 single base substitution C T intron_variant MELA-AU 2 46969755 46969755 single base substitution A T intron_variant MELA-AU 2 46970389 46970389 single base substitution C T intron_variant MELA-AU 2 46970564 46970564 single base substitution C T intron_variant MELA-AU 2 46970999 46970999 single base substitution A C intron_variant MELA-AU 2 46971308 46971308 single base substitution C T intron_variant MELA-AU 2 46971616 46971616 single base substitution C T intron_variant MELA-AU 2 46971765 46971765 single base substitution C T intron_variant MELA-AU 2 46972348 46972348 single base substitution C T intron_variant MELA-AU 2 46972590 46972590 single base substitution T C intron_variant MELA-AU 2 46972940 46972940 single base substitution C T intron_variant MELA-AU 2 46973095 46973095 single base substitution C T intron_variant MELA-AU 2 46973197 46973197 single base substitution T A intron_variant MELA-AU 2 46973507 46973507 single base substitution C T intron_variant MELA-AU 2 46973817 46973817 single base substitution C T intron_variant MELA-AU 2 46974014 46974014 single base substitution G A intron_variant MELA-AU 2 46975234 46975234 single base substitution C T intron_variant MELA-AU 2 46976703 46976703 single base substitution G A intron_variant MELA-AU 2 46978527 46978528 deletion of <=200bp AT - intron_variant MELA-AU 2 46979842 46979842 single base substitution G A intron_variant MELA-AU 2 46980597 46980597 single base substitution A T intron_variant MELA-AU 2 46980889 46980889 single base substitution T G intron_variant MELA-AU 2 46980933 46980933 single base substitution C T intron_variant MELA-AU 2 46981641 46981641 single base substitution G A intron_variant MELA-AU 2 46981802 46981802 single base substitution T C intron_variant MELA-AU 2 46982535 46982535 single base substitution C T intron_variant MELA-AU 2 46982840 46982840 single base substitution C T intron_variant MELA-AU 2 46983999 46983999 single base substitution G A intron_variant MELA-AU 2 46984463 46984463 single base substitution C T intron_variant MELA-AU 2 46985770 46985770 single base substitution C T missense_variant S34F 101C>T MELA-AU 2 46986106 46986106 single base substitution G A missense_variant R146Q 437G>A MELA-AU 2 46986944 46986944 single base substitution C T synonymous_variant S425S 1275C>T MELA-AU 2 46987060 46987060 single base substitution C T missense_variant S464L 1391C>T MELA-AU 2 46988604 46988604 single base substitution C T 3_prime_UTR_variant MELA-AU 2 46989416 46989416 single base substitution A G 3_prime_UTR_variant MELA-AU 2 46990800 46990800 single base substitution G A downstream_gene_variant MELA-AU 2 46991454 46991454 single base substitution C T downstream_gene_variant MELA-AU 2 46991510 46991510 single base substitution T A downstream_gene_variant MELA-AU 2 46992441 46992441 single base substitution G A downstream_gene_variant MELA-AU 2 46992525 46992525 single base substitution C T downstream_gene_variant MELA-AU 2 46992851 46992851 single base substitution T C downstream_gene_variant MELA-AU 2 46993098 46993098 single base substitution C T downstream_gene_variant MELA-AU 2 46993197 46993197 single base substitution C T downstream_gene_variant MELA-AU 2 46994137 46994137 single base substitution A G downstream_gene_variant MELA-AU 2 46994495 46994495 single base substitution C T downstream_gene_variant MELA-AU 2 46995070 46995070 single base substitution C T downstream_gene_variant ORCA-IN 2 46930507 46930507 single base substitution A T intron_variant ORCA-IN 2 46953504 46953504 single base substitution G A intron_variant ORCA-IN 2 46974440 46974440 single base substitution G A intron_variant ORCA-IN 2 46992997 46992997 single base substitution C T downstream_gene_variant OV-AU 2 46931927 46931927 single base substitution C G intron_variant OV-AU 2 46939869 46939869 single base substitution G C intron_variant OV-AU 2 46947003 46947003 single base substitution G C intron_variant OV-AU 2 46947315 46947315 single base substitution A G intron_variant OV-AU 2 46948310 46948310 single base substitution T C intron_variant OV-AU 2 46948876 46948876 single base substitution T G intron_variant OV-AU 2 46953096 46953096 single base substitution G C intron_variant OV-AU 2 46963159 46963159 single base substitution C T intron_variant OV-AU 2 46963977 46963977 single base substitution T C intron_variant OV-AU 2 46973228 46973228 single base substitution A G intron_variant OV-AU 2 46989828 46989828 single base substitution C T 3_prime_UTR_variant OV-AU 2 46989828 46989828 single base substitution C T downstream_gene_variant OV-AU 2 46990574 46990574 single base substitution G C downstream_gene_variant OV-AU 2 46991723 46991723 single base substitution C T downstream_gene_variant OV-AU 2 46993529 46993529 single base substitution T G downstream_gene_variant OV-AU 2 46993641 46993641 single base substitution C A downstream_gene_variant OV-AU 2 46993701 46993701 single base substitution G A downstream_gene_variant OV-US 2 46986955 46986955 single base substitution G A missense_variant R429Q 1286G>A PACA-AU 2 46921488 46921488 single base substitution G A upstream_gene_variant PACA-AU 2 46921724 46921724 insertion of <=200bp - A upstream_gene_variant PACA-AU 2 46921874 46921874 single base substitution G C upstream_gene_variant PACA-AU 2 46922320 46922320 single base substitution G A upstream_gene_variant PACA-AU 2 46922640 46922640 single base substitution G C upstream_gene_variant PACA-AU 2 46922951 46922951 single base substitution G C upstream_gene_variant PACA-AU 2 46923234 46923234 single base substitution G A upstream_gene_variant PACA-AU 2 46923398 46923398 single base substitution G C upstream_gene_variant PACA-AU 2 46923597 46923597 single base substitution G C upstream_gene_variant PACA-AU 2 46923702 46923702 single base substitution G A upstream_gene_variant PACA-AU 2 46924099 46924099 single base substitution G C upstream_gene_variant PACA-AU 2 46929579 46929579 single base substitution G C intron_variant PACA-AU 2 46938517 46938517 single base substitution G A intron_variant PACA-AU 2 46943253 46943253 single base substitution T C intron_variant PACA-AU 2 46944966 46944966 single base substitution G A intron_variant PACA-AU 2 46947309 46947309 single base substitution A G intron_variant PACA-AU 2 46949075 46949075 single base substitution T A intron_variant PACA-AU 2 46954057 46954057 single base substitution G A intron_variant PACA-AU 2 46970396 46970396 single base substitution T C intron_variant PACA-CA 2 46921592 46921592 single base substitution C G upstream_gene_variant PACA-CA 2 46923649 46923649 single base substitution G A upstream_gene_variant PACA-CA 2 46936270 46936270 single base substitution G A intron_variant PACA-CA 2 46937436 46937436 single base substitution C T intron_variant PACA-CA 2 46939080 46939080 deletion of <=200bp C - intron_variant PACA-CA 2 46939082 46939095 deletion of <=200bp TTCTGCCACTATGA - intron_variant PACA-CA 2 46939859 46939859 single base substitution G T intron_variant PACA-CA 2 46940284 46940284 single base substitution C G intron_variant PACA-CA 2 46941432 46941432 single base substitution T A intron_variant PACA-CA 2 46942080 46942080 single base substitution C G intron_variant PACA-CA 2 46942842 46942842 deletion of <=200bp T - intron_variant PACA-CA 2 46943024 46943024 single base substitution G T intron_variant PACA-CA 2 46943998 46943998 single base substitution C T intron_variant PACA-CA 2 46947202 46947202 single base substitution G T intron_variant PACA-CA 2 46953275 46953275 single base substitution G A intron_variant PACA-CA 2 46955268 46955268 single base substitution C T intron_variant PACA-CA 2 46955497 46955497 single base substitution A C intron_variant PACA-CA 2 46956911 46956911 single base substitution A T intron_variant PACA-CA 2 46957515 46957515 single base substitution G A intron_variant PACA-CA 2 46958577 46958577 single base substitution C T intron_variant PACA-CA 2 46963638 46963638 single base substitution C A intron_variant PACA-CA 2 46966089 46966089 single base substitution G C intron_variant PACA-CA 2 46971681 46971681 single base substitution C T intron_variant PACA-CA 2 46971688 46971688 single base substitution T A intron_variant PACA-CA 2 46972721 46972729 deletion of <=200bp ATTTGTGGA - intron_variant PACA-CA 2 46973202 46973202 single base substitution C T intron_variant PACA-CA 2 46973451 46973451 single base substitution C G intron_variant PACA-CA 2 46974548 46974548 single base substitution T G intron_variant PACA-CA 2 46976649 46976649 single base substitution A G intron_variant PACA-CA 2 46981747 46981747 single base substitution T C intron_variant PACA-CA 2 46990279 46990279 single base substitution G A downstream_gene_variant PACA-CA 2 46994071 46994071 single base substitution A G downstream_gene_variant PACA-CA 2 46994310 46994310 single base substitution A T downstream_gene_variant PACA-CA 2 46994393 46994393 single base substitution G A downstream_gene_variant PAEN-AU 2 46975426 46975426 single base substitution G C intron_variant PAEN-AU 2 46994567 46994567 single base substitution G A downstream_gene_variant PAEN-IT 2 46921428 46921428 single base substitution G A upstream_gene_variant PBCA-DE 2 46932666 46932666 single base substitution A G intron_variant PBCA-DE 2 46946574 46946574 deletion of <=200bp A - intron_variant PBCA-DE 2 46962772 46962772 single base substitution G C intron_variant PBCA-DE 2 46967390 46967390 single base substitution T C intron_variant PBCA-DE 2 46970402 46970402 single base substitution G T intron_variant PRAD-CA 2 46937702 46937702 single base substitution T G intron_variant PRAD-CA 2 46970732 46970732 single base substitution G T intron_variant PRAD-CA 2 46978056 46978056 single base substitution T C intron_variant PRAD-CA 2 46983344 46983344 single base substitution G A intron_variant PRAD-UK 2 46930239 46930239 single base substitution A G intron_variant PRAD-UK 2 46935181 46935181 deletion of <=200bp G - intron_variant PRAD-UK 2 46942148 46942148 single base substitution T G intron_variant PRAD-UK 2 46947588 46947588 single base substitution A G intron_variant PRAD-UK 2 46952639 46952639 single base substitution A G intron_variant PRAD-UK 2 46963742 46963742 single base substitution C T intron_variant PRAD-UK 2 46963827 46963827 single base substitution C T intron_variant PRAD-UK 2 46986645 46986645 single base substitution G T stop_gained E326* 976G>T PRAD-UK 2 46989128 46989128 single base substitution G C 3_prime_UTR_variant PRAD-US 2 46986141 46986141 single base substitution G A missense_variant V158I 472G>A READ-US 2 46987060 46987060 single base substitution C T missense_variant S464L 1391C>T RECA-EU 2 46941976 46941976 single base substitution G A intron_variant RECA-EU 2 46950226 46950226 single base substitution T A intron_variant RECA-EU 2 46950381 46950381 single base substitution C T intron_variant RECA-EU 2 46956501 46956501 single base substitution G A intron_variant RECA-EU 2 46964341 46964341 single base substitution A T intron_variant RECA-EU 2 46974169 46974169 single base substitution T A intron_variant RECA-EU 2 46975484 46975484 single base substitution C T intron_variant RECA-EU 2 46975574 46975574 single base substitution C T intron_variant RECA-EU 2 46982076 46982076 single base substitution T G intron_variant RECA-EU 2 46983659 46983659 single base substitution C G intron_variant RECA-EU 2 46989647 46989647 single base substitution A C 3_prime_UTR_variant RECA-EU 2 46989647 46989647 single base substitution A C downstream_gene_variant RECA-EU 2 46990103 46990103 single base substitution T C 3_prime_UTR_variant RECA-EU 2 46990103 46990103 single base substitution T C downstream_gene_variant RECA-EU 2 46995243 46995243 single base substitution T A downstream_gene_variant SKCA-BR 2 46921244 46921244 single base substitution C T upstream_gene_variant SKCA-BR 2 46924607 46924607 single base substitution G A upstream_gene_variant SKCA-BR 2 46925484 46925484 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 2 46926422 46926422 single base substitution T G 5_prime_UTR_variant SKCA-BR 2 46926422 46926422 single base substitution T G intron_variant SKCA-BR 2 46929002 46929002 single base substitution A G intron_variant SKCA-BR 2 46932666 46932666 single base substitution A G intron_variant SKCA-BR 2 46936019 46936021 deletion of <=200bp CTT - intron_variant SKCA-BR 2 46942510 46942510 insertion of <=200bp - CA intron_variant SKCA-BR 2 46943251 46943251 single base substitution T C intron_variant SKCA-BR 2 46943583 46943583 single base substitution A T intron_variant SKCA-BR 2 46950140 46950140 single base substitution T G intron_variant SKCA-BR 2 46950583 46950583 single base substitution T C intron_variant SKCA-BR 2 46952583 46952583 single base substitution C T intron_variant SKCA-BR 2 46954204 46954204 single base substitution C T intron_variant SKCA-BR 2 46954260 46954260 single base substitution G A intron_variant SKCA-BR 2 46955737 46955737 single base substitution C T intron_variant SKCA-BR 2 46958597 46958597 single base substitution C T intron_variant SKCA-BR 2 46958816 46958816 single base substitution G A intron_variant SKCA-BR 2 46960707 46960707 insertion of <=200bp - CA intron_variant SKCA-BR 2 46963153 46963153 single base substitution C T intron_variant SKCA-BR 2 46963178 46963178 single base substitution C T intron_variant SKCA-BR 2 46968035 46968035 single base substitution C T intron_variant SKCA-BR 2 46969489 46969489 single base substitution A C intron_variant SKCA-BR 2 46970952 46970952 single base substitution C T intron_variant SKCA-BR 2 46973538 46973538 single base substitution C T intron_variant SKCA-BR 2 46974781 46974781 single base substitution G A intron_variant SKCA-BR 2 46980105 46980105 single base substitution C A intron_variant SKCA-BR 2 46986911 46986911 single base substitution C T synonymous_variant L414L 1242C>T SKCA-BR 2 46987110 46987110 single base substitution C T missense_variant P481S 1441C>T SKCA-BR 2 46989879 46989879 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 46989879 46989879 single base substitution C T downstream_gene_variant SKCA-BR 2 46990720 46990720 single base substitution T G downstream_gene_variant SKCA-BR 2 46990721 46990723 deletion of <=200bp TTG - downstream_gene_variant SKCA-BR 2 46990728 46990728 single base substitution G T downstream_gene_variant SKCA-BR 2 46990732 46990733 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 2 46990955 46990955 single base substitution G A downstream_gene_variant SKCM-US 2 46985927 46985927 single base substitution C T synonymous_variant I86I 258C>T SKCM-US 2 46986117 46986117 single base substitution C T stop_gained Q150* 448C>T SKCM-US 2 46986148 46986148 single base substitution C G missense_variant S160C 479C>G SKCM-US 2 46986807 46986807 single base substitution C T missense_variant P380S 1138C>T SKCM-US 2 46986972 46986972 single base substitution C T missense_variant H435Y 1303C>T SKCM-US 2 46986993 46986993 single base substitution C T missense_variant H442Y 1324C>T SKCM-US 2 46987053 46987053 single base substitution C T missense_variant P462S 1384C>T SKCM-US 2 46987054 46987054 single base substitution C T missense_variant P462L 1385C>T SKCM-US 2 46987134 46987134 single base substitution C T missense_variant R489C 1465C>T STAD-US 2 46985744 46985744 single base substitution C T synonymous_variant S25S 75C>T STAD-US 2 46985797 46985797 single base substitution A G missense_variant K43R 128A>G STAD-US 2 46985924 46985924 single base substitution A T missense_variant E85D 255A>T STAD-US 2 46986226 46986226 single base substitution G T missense_variant G186V 557G>T STAD-US 2 46986595 46986595 single base substitution A G missense_variant E309G 926A>G STAD-US 2 46986749 46986749 single base substitution C T synonymous_variant H360H 1080C>T STAD-US 2 46986977 46986977 single base substitution C G missense_variant N436K 1308C>G STAD-US 2 46987047 46987047 single base substitution A G missense_variant K460E 1378A>G THCA-SA 2 46987767 46987767 single base substitution A G 3_prime_UTR_variant THCA-SA 2 46987935 46987935 single base substitution T G 3_prime_UTR_variant UCEC-US 2 46985850 46985850 single base substitution G T stop_gained E61* 181G>T UCEC-US 2 46985888 46985888 single base substitution G T missense_variant K73N 219G>T UCEC-US 2 46985893 46985893 single base substitution C A missense_variant S75Y 224C>A UCEC-US 2 46985902 46985902 single base substitution G A missense_variant R78K 233G>A UCEC-US 2 46985952 46985952 single base substitution G A missense_variant E95K 283G>A UCEC-US 2 46986073 46986073 single base substitution C A stop_gained S135* 404C>A UCEC-US 2 46986094 46986094 single base substitution T G missense_variant F142C 425T>G UCEC-US 2 46986317 46986317 single base substitution G T missense_variant E216D 648G>T UCEC-US 2 46986362 46986362 single base substitution T C synonymous_variant H231H 693T>C UCEC-US 2 46986640 46986640 single base substitution C T missense_variant S324L 971C>T UCEC-US 2 46986685 46986685 single base substitution A C missense_variant K339T 1016A>C UCEC-US 2 46986776 46986776 single base substitution C T synonymous_variant L369L 1107C>T UCEC-US 2 46986955 46986955 single base substitution G A missense_variant R429Q 1286G>A UCEC-US 2 46986991 46986991 single base substitution C T missense_variant A441V 1322C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand B86-Tumor COSM1752574 c.610A>G p.N204D Substitution - Missense 2:46759140-46759140 + TCGA-34-2596-01 COSM721748 c.309C>A p.T103T Substitution - coding silent 2:46758839-46758839 + TCGA-F5-6814-01 COSM265390 c.1391C>T p.S464L Substitution - Missense 2:46759921-46759921 + TCGA-B6-A0WX-01 COSM442959 c.224C>A p.S75Y Substitution - Missense 2:46758754-46758754 + TCGA-AA-3510-01 COSM315491 c.282C>T p.I94I Substitution - coding silent 2:46758812-46758812 + TCGA-IR-A3LH-01 COSM4833303 c.573G>C p.M191I Substitution - Missense 2:46759103-46759103 + T2940 COSM4728896 c.1351A>G p.T451A Substitution - Missense 2:46759881-46759881 + KPOPBR-03-T COSM5965338 c.767C>G p.S256C Substitution - Missense 2:46759297-46759297 + 31119 COSM5044258 c.1063G>T p.G355* Substitution - Nonsense 2:46759593-46759593 + TCGA-EE-A29E-06 COSM3581848 c.258C>T p.I86I Substitution - coding silent 2:46758788-46758788 + TCGA-BS-A0UV-01 COSM1021198 c.181G>T p.E61* Substitution - Nonsense 2:46758711-46758711 + TCGA-CS-4941-01 COSM3972261 c.215C>A p.S72* Substitution - Nonsense 2:46758745-46758745 + HCC149T COSM5817343 c.1327G>T p.D443Y Substitution - Missense 2:46759857-46759857 + TCGA-28-5207-01 COSM2157337 c.1332G>T p.P444P Substitution - coding silent 2:46759862-46759862 + T3147 COSM4728895 c.1073A>G p.K358R Substitution - Missense 2:46759603-46759603 + TCGA-AD-6895-01 COSM1408224 c.346C>T p.R116* Substitution - Nonsense 2:46758876-46758876 + S02243 COSM5677805 c.1105C>T p.L369F Substitution - Missense 2:46759635-46759635 + TCGA-BS-A0UV-01 COSM1021210 c.1107C>T p.L369L Substitution - coding silent 2:46759637-46759637 + TCGA-G4-6297-01 COSM1021210 c.1107C>T p.L369L Substitution - coding silent 2:46759637-46759637 + TCGA-AA-3510-01 COSM1408223 c.299C>A p.S100Y Substitution - Missense 2:46758829-46758829 + PT38 COSM5922213 c.1231G>A p.E411K Substitution - Missense 2:46759761-46759761 + ESO-0292 COSM1241766 c.1466G>A p.R489H Substitution - Missense 2:46759996-46759996 + TCGA-19-1786 COSM2155809 c.1512C>T p.L504L Substitution - coding silent 2:46760042-46760042 + TCGA-AG-A02G-01 COSM265390 c.1391C>T p.S464L Substitution - Missense 2:46759921-46759921 + TCGA-BS-A0UV-01 COSM1021200 c.233G>A p.R78K Substitution - Missense 2:46758763-46758763 + T3049 COSM3185732 c.216G>A p.S72S Substitution - coding silent 2:46758746-46758746 + PT50 COSM5937033 c.338C>T p.S113F Substitution - Missense 2:46758868-46758868 + TCGA-GF-A6C9-06 COSM4902817 c.1303C>T p.H435Y Substitution - Missense 2:46759833-46759833 + PT37 COSM3185753 c.1274C>T p.S425F Substitution - Missense 2:46759804-46759804 + CH-109-T2 COSM5650554 c.973G>A p.E325K Substitution - Missense 2:46759503-46759503 + TCGA-K7-A5RG-01 COSM76543 c.1286G>A p.R429Q Substitution - Missense 2:46759816-46759816 + I2L-P7-Tumor-Organoid COSM5354671 c.1467C>T p.R489R Substitution - coding silent 2:46759997-46759997 + TCGA-BR-8485-01 COSM4094411 c.557G>T p.G186V Substitution - Missense 2:46759087-46759087 + PDA_048 COSM5000629 c.901C>A p.P301T Substitution - Missense 2:46759431-46759431 + CHC798T COSM4958327 c.107G>C p.R36T Substitution - Missense 2:46758637-46758637 + LUAD-S01356 COSM398199 c.1185C>T p.L395L Substitution - coding silent 2:46759715-46759715 + TCGA-AD-6964-01 COSM1408228 c.472G>A p.V158I Substitution - Missense 2:46759002-46759002 + ESCC-250T COSM3939103 c.112T>G p.L38V Substitution - Missense 2:46758642-46758642 + RK258_C01 COSM4943869 c.211C>T p.P71S Substitution - Missense 2:46758741-46758741 + D16 COSM5007895 c.1571delG p.R524fs*>13 Deletion - Frameshift 2:46760101-46760101 + EW8 COSM4583531 c.749T>G p.F250C Substitution - Missense 2:46759279-46759279 + TCGA-D1-A16N-01 COSM1021205 c.693T>C p.H231H Substitution - coding silent 2:46759223-46759223 + LC_S12 COSM1190713 c.855_858delTACA p.T286fs*17 Deletion - Frameshift 2:46759385-46759388 + TCGA-EE-A2GN-06 COSM1193709 c.479C>G p.S160C Substitution - Missense 2:46759009-46759009 + TCGA-AX-A05Z-01 COSM1021203 c.425T>G p.F142C Substitution - Missense 2:46758955-46758955 + TCGA-BR-8284-01 COSM4094409 c.128A>G p.K43R Substitution - Missense 2:46758658-46758658 + TCGA-18-3409-01 COSM265390 c.1391C>T p.S464L Substitution - Missense 2:46759921-46759921 + TCGA-BS-A0UV-01 COSM1021211 c.1322C>T p.A441V Substitution - Missense 2:46759852-46759852 + HCC061T COSM5805876 c.1501A>G p.I501V Substitution - Missense 2:46760031-46760031 + TCGA-BR-8366-01 COSM4094412 c.926A>G p.E309G Substitution - Missense 2:46759456-46759456 + TCGA-BS-A0UF-01 COSM442959 c.224C>A p.S75Y Substitution - Missense 2:46758754-46758754 + LUAD-TLLGS COSM347631 c.1370A>T p.E457V Substitution - Missense 2:46759900-46759900 + TCGA-BS-A0UV-01 COSM1021202 c.404C>A p.S135* Substitution - Nonsense 2:46758934-46758934 + TCGA-BR-A4CQ-01 COSM1632017 c.1378A>G p.K460E Substitution - Missense 2:46759908-46759908 + TCGA-EE-A2MS-06 COSM3581850 c.1384C>T p.P462S Substitution - Missense 2:46759914-46759914 + 1003 COSM5730630 c.436_437insG p.S147fs*59 Insertion - Frameshift 2:46758966-46758967 + 100701 COSM95664 c.1285C>T p.R429* Substitution - Nonsense 2:46759815-46759815 + TCGA-QB-A6FS-06 COSM3910369 c.1385C>T p.P462L Substitution - Missense 2:46759915-46759915 + YUOTHO COSM5397072 c.625C>T p.H209Y Substitution - Missense 2:46759155-46759155 + TCGA-BS-A0UF-01 COSM1021208 c.1016A>C p.K339T Substitution - Missense 2:46759546-46759546 + TCGA-39-5019-01 COSM721746 c.1286G>T p.R429L Substitution - Missense 2:46759816-46759816 + 2334199 COSM323513 c.47A>G p.Q16R Substitution - Missense 2:46758577-46758577 + T368 COSM4728897 c.1510C>T p.L504F Substitution - Missense 2:46760040-46760040 + PT37 COSM5917788 c.1234G>A p.D412N Substitution - Missense 2:46759764-46759764 + TCGA-EI-6917-01 COSM265390 c.1391C>T p.S464L Substitution - Missense 2:46759921-46759921 + TCGA-AA-3492-01 COSM5097346 c.1059A>T p.R353S Substitution - Missense 2:46759589-46759589 + TCGA-AM-5820-01 COSM3758249 c.747A>G p.T249T Substitution - coding silent 2:46759277-46759277 + TCGA-BR-8368-01 COSM4094414 c.1308C>G p.N436K Substitution - Missense 2:46759838-46759838 + TCGA-AA-A00N-01 COSM265390 c.1391C>T p.S464L Substitution - Missense 2:46759921-46759921 + CHC798T COSM4958327 c.107G>C p.R36T Substitution - Missense 2:46758637-46758637 + PD18776a COSM5787200 c.805C>T p.R269W Substitution - Missense 2:46759335-46759335 + TCGA-AX-A05Z-01 COSM76543 c.1286G>A p.R429Q Substitution - Missense 2:46759816-46759816 + TCGA-AA-3510-01 COSM1408222 c.253G>A p.E85K Substitution - Missense 2:46758783-46758783 + TCGA-AP-A05N-01 COSM1021197 c.98A>G p.N33S Substitution - Missense 2:46758628-46758628 + TCGA-18-3409-01 COSM721747 c.754C>T p.P252S Substitution - Missense 2:46759284-46759284 + TCGA-AP-A0LD-01 COSM1021207 c.1010G>T p.R337M Substitution - Missense 2:46759540-46759540 + RK190_C01 COSM3743811 c.326C>T p.A109V Substitution - Missense 2:46758856-46758856 + T3225 COSM285259 c.463C>T p.R155C Substitution - Missense 2:46758993-46758993 + S00833 COSM315491 c.282C>T p.I94I Substitution - coding silent 2:46758812-46758812 + TCGA-EE-A2MR-06 COSM3581849 c.1324C>T p.H442Y Substitution - Missense 2:46759854-46759854 + SJRHB001 COSM3738424 c.1108G>A p.V370M Substitution - Missense 2:46759638-46759638 + TCGA-61-2095-01 COSM118703 c.585C>T p.S195S Substitution - coding silent 2:46759115-46759115 + TCGA-13-2057-01 COSM1327066 c.690G>A p.W230* Substitution - Nonsense 2:46759220-46759220 + TCGA-G4-6304-01 COSM1408221 c.131A>G p.N44S Substitution - Missense 2:46758661-46758661 + CSCC-31-T COSM4500660 c.570C>T p.P190P Substitution - coding silent 2:46759100-46759100 + TCGA-FW-A3R5-06 COSM3910368 c.1138C>T p.P380S Substitution - Missense 2:46759668-46759668 + TCGA-AX-A0J0-01 COSM442959 c.224C>A p.S75Y Substitution - Missense 2:46758754-46758754 + TCGA-BR-8589-01 COSM4094410 c.255A>T p.E85D Substitution - Missense 2:46758785-46758785 + TCGA-61-1907-01 COSM1327067 c.322C>G p.L108V Substitution - Missense 2:46758852-46758852 + TCGA-BR-6566-01 COSM4094413 c.1080C>T p.H360H Substitution - coding silent 2:46759610-46759610 + TCGA-EB-A5UN-06 COSM3185736 c.448C>T p.Q150* Substitution - Nonsense 2:46758978-46758978 + RK156_C01 COSM1021210 c.1107C>T p.L369L Substitution - coding silent 2:46759637-46759637 + TCGA-HC-7749-01 COSM1408228 c.472G>A p.V158I Substitution - Missense 2:46759002-46759002 + TCGA-NH-A5IV-01 COSM5183293 c.66G>T p.E22D Substitution - Missense 2:46758596-46758596 + TCGA-D1-A103-01 COSM1021201 c.283G>A p.E95K Substitution - Missense 2:46758813-46758813 + TCGA-BS-A0UF-01 COSM1021204 c.648G>T p.E216D Substitution - Missense 2:46759178-46759178 + TCGA-BK-A0C9-01 COSM1021209 c.1051G>A p.V351I Substitution - Missense 2:46759581-46759581 + RK032_C01 COSM1632017 c.1378A>G p.K460E Substitution - Missense 2:46759908-46759908 + PCSI_0295_Pa_P_526 COSM3758249 c.747A>G p.T249T Substitution - coding silent 2:46759277-46759277 + TCGA-AA-A010-01 COSM285259 c.463C>T p.R155C Substitution - Missense 2:46758993-46758993 + TCGA-04-1343-01 COSM76543 c.1286G>A p.R429Q Substitution - Missense 2:46759816-46759816 + TARGET-20-PANAEV-09A-03D COSM3738424 c.1108G>A p.V370M Substitution - Missense 2:46759638-46759638 + PTC-14C COSM4133857 c.209G>T p.S70I Substitution - Missense 2:46758739-46758739 + TCGA-CK-6746-01 COSM5155412 c.961A>G p.N321D Substitution - Missense 2:46759491-46759491 + HCC063T COSM5812728 c.1229A>T p.Q410L Substitution - Missense 2:46759759-46759759 + TCGA-A6-2686-01 COSM5085217 c.1449C>T p.S483S Substitution - coding silent 2:46759979-46759979 + 587376 COSM265390 c.1391C>T p.S464L Substitution - Missense 2:46759921-46759921 + 1517_PT COSM5756074 c.284delA p.K96fs*63 Deletion - Frameshift 2:46758814-46758814 + TCGA-HU-A4GT-01 COSM4094408 c.75C>T p.S25S Substitution - coding silent 2:46758605-46758605 + STC232 COSM1241766 c.1466G>A p.R489H Substitution - Missense 2:46759996-46759996 + TCGA-GV-A3JZ-01 COSM1306830 c.380C>T p.S127F Substitution - Missense 2:46758910-46758910 + HCC72T COSM1614876 c.1422A>G p.I474M Substitution - Missense 2:46759952-46759952 + HCC72 COSM1614876 c.1422A>G p.I474M Substitution - Missense 2:46759952-46759952 + S00833 COSM315491 c.282C>T p.I94I Substitution - coding silent 2:46758812-46758812 + TCGA-D1-A17Q-01 COSM1021206 c.971C>T p.S324L Substitution - Missense 2:46759501-46759501 + B86 COSM1752574 c.610A>G p.N204D Substitution - Missense 2:46759140-46759140 + RK156_C01 COSM3702196 c.5A>G p.D2G Substitution - Missense 2:46758535-46758535 + SJRHB001_D COSM3738424 c.1108G>A p.V370M Substitution - Missense 2:46759638-46759638 + H2009 COSM1193709 c.479C>G p.S160C Substitution - Missense 2:46759009-46759009 + Br27P COSM40633 c.365G>A p.G122E Substitution - Missense 2:46758895-46758895 + TCGA-DG-A2KK-01 COSM3185732 c.216G>A p.S72S Substitution - coding silent 2:46758746-46758746 + TCGA-28-5207 COSM2157337 c.1332G>T p.P444P Substitution - coding silent 2:46759862-46759862 + TCGA-BS-A0TC-01 COSM1021199 c.219G>T p.K73N Substitution - Missense 2:46758749-46758749 + LC_S12 COSM1190712 c.849_852delAATA p.Q283fs*20 Deletion - Frameshift 2:46759379-46759382 + TCGA-AY-6197-01 COSM1408227 c.408G>T p.L136F Substitution - Missense 2:46758938-46758938 + TCGA-AA-A00N-01 COSM277420 c.1317C>T p.F439F Substitution - coding silent 2:46759847-46759847 + TCGA-EE-A29M-06 COSM3581851 c.1465C>T p.R489C Substitution - Missense 2:46759995-46759995 + SJRHB028 COSM3737129 c.991delC p.L331fs*55 Deletion - Frameshift 2:46759521-46759521 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.468426 2p21 607094

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E95G c.284A>G 2 46985953 CM A G Missense p.K460E c.1378A>G 2 46987047 HC A G Missense p.Q16R c.47A>G 2 46985716 SCLC A G Synonymous p.L296L c.888A>G 2 46986557 STAD A G Synonymous p.L506L c.1518A>G 2 46987187 CM C A Missense p.S75Y c.224C>A 2 46985893 BRCA C A Synonymous p.T103T c.309C>A 2 46985978 LUSC C G Missense p.S160C c.479C>G 2 46986148 CM C T Missense p.P462S c.1384C>T 2 46987053 CM C T Missense p.R489C c.1465C>T 2 46987134 CM C T Missense p.S127F c.380C>T 2 46986049 BLCA C T Missense p.S464L c.1391C>T 2 46987060 COREAD C T Synonymous p.I94I c.282C>T 2 46985951 SCLC C T Synonymous p.S195S c.585C>T 2 46986254 OV G A Missense p.E400K c.1198G>A 2 46986867 HNSC G A Missense p.G122E c.365G>A 2 46986034 GBM G A Missense p.R146Q c.437G>A 2 46986106 HNSC G A Missense p.R429Q c.1286G>A 2 46986955 OV G A Missense p.R489H c.1466G>A 2 46987135 STAD G A Missense p.V158I c.472G>A 2 46986141 PRAD G C Missense p.D139H c.415G>C 2 46986084 LUAD G C Missense p.E431Q c.1291G>C 2 46986960 HNSC G C Missense p.R424T c.1271G>C 2 46986940 HNSC G C Missense p.R524T c.1571G>C 2 46987240 COREAD G T Missense p.G401C c.1201G>T 2 46986870 HNSC G T Missense p.K131N c.393G>T 2 46986062 LUAD G T Missense p.K73N c.219G>T 2 46985888 UCEC G T Missense p.R429L c.1286G>T 2 46986955 LUSC G T Synonymous p.P444P c.1332G>T 2 46987001 GBM T C Synonymous p.H231H c.693T>C 2 46986362 UCEC