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 9 116045011 116045011 + Missense_Mutation SNP G G C TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr9:116045011G>C c.481G>C c.(481-483)Gag>Cag p.E161Q BLCA 9 116050456 116050456 + Splice_Site SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr9:116050456G>A c.937G>A c.(937-939)Gat>Aat p.D313N BLCA 9 116053237 116053237 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr9:116053237G>T c.1316G>T c.(1315-1317)cGg>cTg p.R439L BLCA 9 116053819 116053819 + Missense_Mutation SNP C C T TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr9:116053819C>T c.1448C>T c.(1447-1449)tCc>tTc p.S483F BLCA 9 116053935 116053935 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr9:116053935G>C c.1564G>C c.(1564-1566)Gaa>Caa p.E522Q BRCA 9 116038854 116038854 + Silent SNP C C T TCGA-BH-A0E6-01A-11W-A050-09 TCGA-BH-A0E6-10A-01W-A055-09 g.chr9:116038854C>T c.57C>T c.(55-57)gaC>gaT p.D19D BRCA 9 116050502 116050502 + Frame_Shift_Del DEL G G - TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 g.chr9:116050502delG c.983delG c.(982-984)cggfs p.R328fs BRCA 9 116053191 116053191 + Missense_Mutation SNP A A C TCGA-AR-A256-01A-11D-A167-09 TCGA-AR-A256-10A-01D-A167-09 g.chr9:116053191A>C c.1270A>C c.(1270-1272)Acc>Ccc p.T424P BRCA 9 116053913 116053913 + Missense_Mutation SNP G G C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 g.chr9:116053913G>C c.1542G>C c.(1540-1542)agG>agC p.R514S BRCA 9 116053923 116053923 + Silent SNP C C T TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 g.chr9:116053923C>T c.1552C>T c.(1552-1554)Ctg>Ttg p.L518L CESC 9 116039003 116039003 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 g.chr9:116039003C>T c.206C>T c.(205-207)tCt>tTt p.S69F CESC 9 116041407 116041407 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr9:116041407G>C c.391G>C c.(391-393)Gaa>Caa p.E131Q CESC 9 116048568 116048568 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr9:116048568G>A c.809G>A c.(808-810)cGa>cAa p.R270Q COAD 9 116038036 116038036 + Nonsense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr9:116038036C>T c.13C>T c.(13-15)Cga>Tga p.R5* COAD 9 116038953 116038953 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr9:116038953G>A c.156G>A c.(154-156)ggG>ggA p.G52G COAD 9 116041246 116041246 + Missense_Mutation SNP A A C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr9:116041246A>C c.230A>C c.(229-231)gAg>gCg p.E77A COAD 9 116044948 116044948 + Missense_Mutation SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr9:116044948G>A c.418G>A c.(418-420)Gtc>Atc p.V140I COAD 9 116045417 116045417 + Silent SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr9:116045417G>A c.489G>A c.(487-489)caG>caA p.Q163Q COAD 9 116045694 116045694 + Nonsense_Mutation SNP C C T TCGA-AA-A01Z-01A-11W-A096-10 TCGA-AA-A01Z-11A-11W-A096-10 g.chr9:116045694C>T c.589C>T c.(589-591)Cga>Tga p.R197* COAD 9 116049104 116049104 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr9:116049104G>A c.931G>A c.(931-933)Gac>Aac p.D311N COAD 9 116050500 116050500 + Silent SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr9:116050500G>A c.981G>A c.(979-981)gcG>gcA p.A327A COAD 9 116053261 116053261 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr9:116053261C>T c.1340C>T c.(1339-1341)gCt>gTt p.A447V COAD 9 116053297 116053297 + Splice_Site SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr9:116053297G>A c.e13+1 COAD 9 116053805 116053805 + Silent SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr9:116053805G>A c.1434G>A c.(1432-1434)acG>acA p.T478T COAD 9 116053834 116053834 + Missense_Mutation SNP T T A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr9:116053834T>A c.1463T>A c.(1462-1464)cTg>cAg p.L488Q COAD 9 116053834 116053834 + Missense_Mutation SNP T T C TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr9:116053834T>C c.1463T>C c.(1462-1464)cTg>cCg p.L488P COAD 9 116053844 116053844 + Silent SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr9:116053844C>T c.1473C>T c.(1471-1473)caC>caT p.H491H COADREAD 9 116038036 116038036 + Nonsense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr9:116038036C>T c.13C>T c.(13-15)Cga>Tga p.R5* COADREAD 9 116038953 116038953 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr9:116038953G>A c.156G>A c.(154-156)ggG>ggA p.G52G COADREAD 9 116041246 116041246 + Missense_Mutation SNP A A C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr9:116041246A>C c.230A>C c.(229-231)gAg>gCg p.E77A COADREAD 9 116044948 116044948 + Missense_Mutation SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr9:116044948G>A c.418G>A c.(418-420)Gtc>Atc p.V140I COADREAD 9 116044949 116044949 + Missense_Mutation SNP T T C TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr9:116044949T>C c.419T>C c.(418-420)gTc>gCc p.V140A COADREAD 9 116044950 116044950 + Silent SNP C C T TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr9:116044950C>T c.420C>T c.(418-420)gtC>gtT p.V140V COADREAD 9 116045417 116045417 + Silent SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr9:116045417G>A c.489G>A c.(487-489)caG>caA p.Q163Q COADREAD 9 116045694 116045694 + Nonsense_Mutation SNP C C T TCGA-AA-A01Z-01A-11W-A096-10 TCGA-AA-A01Z-11A-11W-A096-10 g.chr9:116045694C>T c.589C>T c.(589-591)Cga>Tga p.R197* COADREAD 9 116049104 116049104 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr9:116049104G>A c.931G>A c.(931-933)Gac>Aac p.D311N COADREAD 9 116050500 116050500 + Silent SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr9:116050500G>A c.981G>A c.(979-981)gcG>gcA p.A327A COADREAD 9 116053261 116053261 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr9:116053261C>T c.1340C>T c.(1339-1341)gCt>gTt p.A447V COADREAD 9 116053297 116053297 + Splice_Site SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr9:116053297G>A c.e13+1 COADREAD 9 116053805 116053805 + Silent SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr9:116053805G>A c.1434G>A c.(1432-1434)acG>acA p.T478T COADREAD 9 116053834 116053834 + Missense_Mutation SNP T T A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr9:116053834T>A c.1463T>A c.(1462-1464)cTg>cAg p.L488Q COADREAD 9 116053834 116053834 + Missense_Mutation SNP T T C TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr9:116053834T>C c.1463T>C c.(1462-1464)cTg>cCg p.L488P COADREAD 9 116053844 116053844 + Silent SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr9:116053844C>T c.1473C>T c.(1471-1473)caC>caT p.H491H DLBC 9 116041316 116041316 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr9:116041316T>C c.300T>C c.(298-300)aaT>aaC p.N100N DLBC 9 116045007 116045007 + Missense_Mutation SNP A A C TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr9:116045007A>C c.477A>C c.(475-477)aaA>aaC p.K159N DLBC 9 116053895 116053895 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr9:116053895C>T c.1524C>T c.(1522-1524)gcC>gcT p.A508A ESCA 9 116038865 116038865 + Missense_Mutation SNP C C T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 g.chr9:116038865C>T c.68C>T c.(67-69)cCg>cTg p.P23L ESCA 9 116038922 116038922 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 g.chr9:116038922G>T c.125G>T c.(124-126)cGt>cTt p.R42L ESCA 9 116050502 116050502 + Missense_Mutation SNP G G T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr9:116050502G>T c.983G>T c.(982-984)cGg>cTg p.R328L GBM 9 116038922 116038922 + Missense_Mutation SNP G G A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr9:116038922G>A c.125G>A c.(124-126)cGt>cAt p.R42H GBMLGG 9 116038922 116038922 + Missense_Mutation SNP G G A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr9:116038922G>A c.125G>A c.(124-126)cGt>cAt p.R42H GBMLGG 9 116050475 116050475 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:116050475T>C c.956T>C c.(955-957)aTt>aCt p.I319T HNSC 9 116038996 116038996 + Missense_Mutation SNP A A G TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr9:116038996A>G c.199A>G c.(199-201)Ata>Gta p.I67V HNSC 9 116048543 116048543 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 g.chr9:116048543G>A c.784G>A c.(784-786)Gat>Aat p.D262N LGG 9 116050475 116050475 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:116050475T>C c.956T>C c.(955-957)aTt>aCt p.I319T LIHC 9 116049016 116049016 + Silent SNP C C T TCGA-EP-A2KC-01A-11D-A20W-10 TCGA-EP-A2KC-10A-01D-A20W-10 g.chr9:116049016C>T c.843C>T c.(841-843)ttC>ttT p.F281F LIHC 9 116053283 116053283 + Silent SNP T T C TCGA-DD-A1ED-01A-11D-A152-10 TCGA-DD-A1ED-10A-01D-A152-10 g.chr9:116053283T>C c.1362T>C c.(1360-1362)ggT>ggC p.G454G LIHC 9 116053881 116053881 + Missense_Mutation SNP G G A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr9:116053881G>A c.1510G>A c.(1510-1512)Ggg>Agg p.G504R LUAD 9 116041389 116041389 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr9:116041389G>T c.373G>T c.(373-375)Ggt>Tgt p.G125C LUAD 9 116044941 116044941 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr9:116044941C>G c.411C>G c.(409-411)ctC>ctG p.L137L LUAD 9 116052753 116052753 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr9:116052753C>T c.1033C>T c.(1033-1035)Cgt>Tgt p.R345C LUAD 9 116053798 116053798 + Missense_Mutation SNP T T C TCGA-50-5942-01A-21D-1753-08 TCGA-50-5942-10A-01D-1753-08 g.chr9:116053798T>C c.1427T>C c.(1426-1428)aTc>aCc p.I476T LUAD 9 116053823 116053823 + Silent SNP G G A TCGA-86-8076-01A-31D-2238-08 TCGA-86-8076-10A-01D-2238-08 g.chr9:116053823G>A c.1452G>A c.(1450-1452)ccG>ccA p.P484P LUSC 9 116045413 116045413 + Splice_Site SNP A A G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr9:116045413A>G c.485A>G c.(484-486)tAt>tGt p.Y162C LUSC 9 116049074 116049074 + Missense_Mutation SNP G G A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 g.chr9:116049074G>A c.901G>A c.(901-903)Gct>Act p.A301T OV 9 116044948 116044948 + Missense_Mutation SNP G G A TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 g.chr9:116044948G>A c.418G>A c.(418-420)Gtc>Atc p.V140I OV 9 116053834 116053834 + Missense_Mutation SNP T T A TCGA-25-1329-01A-01W-0492-08 TCGA-25-1329-10A-01W-0492-08 g.chr9:116053834T>A c.1463T>A c.(1462-1464)cTg>cAg p.L488Q PAAD 9 116049072 116049072 + Missense_Mutation SNP C C T TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 g.chr9:116049072C>T c.899C>T c.(898-900)gCg>gTg p.A300V PAAD 9 116049072 116049072 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 g.chr9:116049072C>T c.899C>T c.(898-900)gCg>gTg p.A300V PAAD 9 116049072 116049072 + Missense_Mutation SNP C C T TCGA-IB-A6UG-01A-32D-A33T-08 TCGA-IB-A6UG-10A-01D-A33W-08 g.chr9:116049072C>T c.899C>T c.(898-900)gCg>gTg p.A300V PRAD 9 116045694 116045694 + Nonsense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr9:116045694C>T c.589C>T c.(589-591)Cga>Tga p.R197* PRAD 9 116049072 116049072 + Missense_Mutation SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 g.chr9:116049072C>T c.899C>T c.(898-900)gCg>gTg p.A300V READ 9 116044949 116044949 + Missense_Mutation SNP T T C TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr9:116044949T>C c.419T>C c.(418-420)gTc>gCc p.V140A READ 9 116044950 116044950 + Silent SNP C C T TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr9:116044950C>T c.420C>T c.(418-420)gtC>gtT p.V140V SKCM 9 116038899 116038899 + Silent SNP T T C TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr9:116038899T>C c.102T>C c.(100-102)agT>agC p.S34S SKCM 9 116041300 116041300 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr9:116041300G>A c.284G>A c.(283-285)cGa>cAa p.R95Q SKCM 9 116045453 116045453 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr9:116045453G>A c.525G>A c.(523-525)aaG>aaA p.K175K SKCM 9 116045700 116045700 + Missense_Mutation SNP C C A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr9:116045700C>A c.595C>A c.(595-597)Cat>Aat p.H199N SKCM 9 116046646 116046646 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr9:116046646C>T c.729C>T c.(727-729)tcC>tcT p.S243S SKCM 9 116053831 116053831 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:116053831C>T c.1460C>T c.(1459-1461)aCt>aTt p.T487I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 9 116060124 116060124 single base substitution T C downstream_gene_variant BLCA-US 9 116050456 116050456 single base substitution G A downstream_gene_variant BLCA-US 9 116050456 116050456 single base substitution G A missense_variant D312N 934G>A BLCA-US 9 116050456 116050456 single base substitution G A missense_variant D313N 937G>A BLCA-US 9 116053237 116053237 single base substitution G T missense_variant R438L 1313G>T BLCA-US 9 116053237 116053237 single base substitution G T missense_variant R439L 1316G>T BLCA-US 9 116053935 116053935 single base substitution G C missense_variant E521Q 1561G>C BLCA-US 9 116053935 116053935 single base substitution G C missense_variant E522Q 1564G>C BLCA-US 9 116060181 116060181 single base substitution C A downstream_gene_variant BRCA-EU 9 116033009 116033009 single base substitution G C upstream_gene_variant BRCA-EU 9 116033145 116033145 single base substitution G A upstream_gene_variant BRCA-EU 9 116033226 116033226 single base substitution G C upstream_gene_variant BRCA-EU 9 116033314 116033314 single base substitution G C upstream_gene_variant BRCA-EU 9 116033640 116033640 single base substitution G C upstream_gene_variant BRCA-EU 9 116034236 116034236 single base substitution G A upstream_gene_variant BRCA-EU 9 116035492 116035492 single base substitution G C upstream_gene_variant BRCA-EU 9 116035590 116035590 single base substitution C T upstream_gene_variant BRCA-EU 9 116035969 116035969 deletion of <=200bp A - upstream_gene_variant BRCA-EU 9 116036602 116036602 single base substitution C G upstream_gene_variant BRCA-EU 9 116036791 116036791 single base substitution G C upstream_gene_variant BRCA-EU 9 116041268 116041268 single base substitution A T synonymous_variant A83A 249A>T BRCA-EU 9 116041268 116041268 single base substitution A T synonymous_variant A84A 252A>T BRCA-EU 9 116041268 116041268 single base substitution A T upstream_gene_variant BRCA-EU 9 116041458 116041458 single base substitution G T intron_variant BRCA-EU 9 116042495 116042495 single base substitution C T intron_variant BRCA-EU 9 116044195 116044195 single base substitution C T intron_variant BRCA-EU 9 116045141 116045141 single base substitution C G exon_variant BRCA-EU 9 116045141 116045141 single base substitution C G intron_variant BRCA-EU 9 116045443 116045443 single base substitution A G exon_variant BRCA-EU 9 116045443 116045443 single base substitution A G missense_variant N171S 512A>G BRCA-EU 9 116045443 116045443 single base substitution A G missense_variant N172S 515A>G BRCA-EU 9 116047575 116047575 single base substitution G T downstream_gene_variant BRCA-EU 9 116047575 116047575 single base substitution G T intron_variant BRCA-EU 9 116047576 116047576 single base substitution A T downstream_gene_variant BRCA-EU 9 116047576 116047576 single base substitution A T intron_variant BRCA-EU 9 116048096 116048096 single base substitution G A downstream_gene_variant BRCA-EU 9 116048096 116048096 single base substitution G A intron_variant BRCA-EU 9 116048241 116048241 single base substitution G A downstream_gene_variant BRCA-EU 9 116048241 116048241 single base substitution G A intron_variant BRCA-EU 9 116049686 116049686 single base substitution G A downstream_gene_variant BRCA-EU 9 116049686 116049686 single base substitution G A intron_variant BRCA-EU 9 116050680 116050680 single base substitution G C intron_variant BRCA-EU 9 116051604 116051604 single base substitution A G intron_variant BRCA-EU 9 116052624 116052624 single base substitution A G intron_variant BRCA-EU 9 116053389 116053389 single base substitution G C intron_variant BRCA-EU 9 116054021 116054021 single base substitution G C 3_prime_UTR_variant BRCA-EU 9 116054947 116054947 deletion of <=200bp C - 3_prime_UTR_variant BRCA-EU 9 116056404 116056404 single base substitution C T downstream_gene_variant BRCA-EU 9 116056582 116056582 single base substitution G C downstream_gene_variant BRCA-EU 9 116056683 116056683 single base substitution G C downstream_gene_variant BRCA-EU 9 116057751 116057751 single base substitution A G downstream_gene_variant BRCA-EU 9 116058265 116058265 single base substitution G C downstream_gene_variant BRCA-FR 9 116035533 116035533 single base substitution G A upstream_gene_variant BRCA-FR 9 116047575 116047575 single base substitution G T downstream_gene_variant BRCA-FR 9 116047575 116047575 single base substitution G T intron_variant BRCA-FR 9 116047576 116047576 single base substitution A T downstream_gene_variant BRCA-FR 9 116047576 116047576 single base substitution A T intron_variant BRCA-FR 9 116049918 116049918 single base substitution C G downstream_gene_variant BRCA-FR 9 116049918 116049918 single base substitution C G intron_variant BRCA-FR 9 116051604 116051604 single base substitution A G intron_variant BRCA-KR 9 116041333 116041333 single base substitution C T missense_variant S105L 314C>T BRCA-KR 9 116041333 116041333 single base substitution C T missense_variant S106L 317C>T BRCA-KR 9 116041333 116041333 single base substitution C T upstream_gene_variant BRCA-UK 9 116035492 116035492 single base substitution G C upstream_gene_variant BRCA-UK 9 116037749 116037749 single base substitution G C 5_prime_UTR_variant BRCA-UK 9 116037749 116037749 single base substitution G C upstream_gene_variant BRCA-UK 9 116041458 116041458 single base substitution G T intron_variant BRCA-UK 9 116046634 116046634 single base substitution T C downstream_gene_variant BRCA-UK 9 116046634 116046634 single base substitution T C synonymous_variant F238F 714T>C BRCA-UK 9 116046634 116046634 single base substitution T C synonymous_variant F239F 717T>C BRCA-US 9 116038854 116038854 single base substitution C T synonymous_variant D18D 54C>T BRCA-US 9 116038854 116038854 single base substitution C T synonymous_variant D19D 57C>T BRCA-US 9 116038854 116038854 single base substitution C T upstream_gene_variant BRCA-US 9 116050502 116050502 deletion of <=200bp G - frameshift_variant R327 BRCA-US 9 116050502 116050502 deletion of <=200bp G - frameshift_variant R328 BRCA-US 9 116053191 116053191 single base substitution A C missense_variant T423P 1267A>C BRCA-US 9 116053191 116053191 single base substitution A C missense_variant T424P 1270A>C BRCA-US 9 116053913 116053913 single base substitution G C missense_variant R513S 1539G>C BRCA-US 9 116053913 116053913 single base substitution G C missense_variant R514S 1542G>C BRCA-US 9 116053923 116053923 single base substitution C T synonymous_variant L517L 1549C>T BRCA-US 9 116053923 116053923 single base substitution C T synonymous_variant L518L 1552C>T BRCA-US 9 116060076 116060076 single base substitution G A downstream_gene_variant BTCA-JP 9 116046558 116046558 deletion of <=200bp T - downstream_gene_variant BTCA-JP 9 116046558 116046558 deletion of <=200bp T - intron_variant BTCA-JP 9 116054040 116054040 single base substitution C T 3_prime_UTR_variant BTCA-JP 9 116060124 116060124 single base substitution T C downstream_gene_variant CESC-US 9 116039003 116039003 single base substitution C T missense_variant S68F 203C>T CESC-US 9 116039003 116039003 single base substitution C T missense_variant S69F 206C>T CESC-US 9 116039003 116039003 single base substitution C T upstream_gene_variant CESC-US 9 116041407 116041407 single base substitution G C exon_variant CESC-US 9 116041407 116041407 single base substitution G C missense_variant E130Q 388G>C CESC-US 9 116041407 116041407 single base substitution G C missense_variant E131Q 391G>C CESC-US 9 116045017 116045017 single base substitution G C exon_variant CESC-US 9 116045017 116045017 single base substitution G C splice_region_variant CESC-US 9 116045409 116045409 single base substitution C T exon_variant CESC-US 9 116045409 116045409 single base substitution C T splice_region_variant CESC-US 9 116048568 116048568 single base substitution G A downstream_gene_variant CESC-US 9 116048568 116048568 single base substitution G A missense_variant R269Q 806G>A CESC-US 9 116048568 116048568 single base substitution G A missense_variant R270Q 809G>A CLLE-ES 9 116045066 116045066 single base substitution G A exon_variant CLLE-ES 9 116045066 116045066 single base substitution G A intron_variant COAD-US 9 116034721 116034721 single base substitution G A upstream_gene_variant COAD-US 9 116038953 116038953 single base substitution G A synonymous_variant G51G 153G>A COAD-US 9 116038953 116038953 single base substitution G A synonymous_variant G52G 156G>A COAD-US 9 116038953 116038953 single base substitution G A upstream_gene_variant COAD-US 9 116041246 116041246 single base substitution A C missense_variant E76A 227A>C COAD-US 9 116041246 116041246 single base substitution A C missense_variant E77A 230A>C COAD-US 9 116041246 116041246 single base substitution A C upstream_gene_variant COAD-US 9 116044998 116044998 single base substitution A G exon_variant COAD-US 9 116044998 116044998 single base substitution A G synonymous_variant K155K 465A>G COAD-US 9 116044998 116044998 single base substitution A G synonymous_variant K156K 468A>G COAD-US 9 116053297 116053297 single base substitution G A splice_donor_variant COAD-US 9 116053805 116053805 single base substitution G A synonymous_variant T477T 1431G>A COAD-US 9 116053805 116053805 single base substitution G A synonymous_variant T478T 1434G>A COAD-US 9 116060124 116060124 single base substitution T C downstream_gene_variant COCA-CN 9 116034765 116034765 single base substitution C T upstream_gene_variant COCA-CN 9 116038180 116038180 single base substitution C T intron_variant COCA-CN 9 116038180 116038180 single base substitution C T upstream_gene_variant COCA-CN 9 116038993 116038993 single base substitution A G missense_variant N65D 193A>G COCA-CN 9 116038993 116038993 single base substitution A G missense_variant N66D 196A>G COCA-CN 9 116038993 116038993 single base substitution A G upstream_gene_variant COCA-CN 9 116045015 116045015 single base substitution T A exon_variant COCA-CN 9 116045015 116045015 single base substitution T A splice_donor_variant COCA-CN 9 116046825 116046825 single base substitution A G downstream_gene_variant COCA-CN 9 116046825 116046825 single base substitution A G intron_variant COCA-CN 9 116048629 116048629 single base substitution T G downstream_gene_variant COCA-CN 9 116048629 116048629 single base substitution T G intron_variant COCA-CN 9 116048659 116048659 single base substitution C T downstream_gene_variant COCA-CN 9 116048659 116048659 single base substitution C T intron_variant COCA-CN 9 116053881 116053881 single base substitution G A missense_variant G503R 1507G>A COCA-CN 9 116053881 116053881 single base substitution G A missense_variant G504R 1510G>A COCA-CN 9 116056823 116056823 single base substitution T C downstream_gene_variant COCA-CN 9 116056824 116056824 single base substitution T C downstream_gene_variant COCA-CN 9 116059567 116059567 single base substitution G C downstream_gene_variant COCA-CN 9 116059733 116059733 single base substitution A T downstream_gene_variant COCA-CN 9 116059963 116059963 single base substitution C T downstream_gene_variant ESAD-UK 9 116035420 116035420 single base substitution C T upstream_gene_variant ESAD-UK 9 116035861 116035861 single base substitution A G upstream_gene_variant ESAD-UK 9 116035969 116035969 deletion of <=200bp A - upstream_gene_variant ESAD-UK 9 116041736 116041736 single base substitution C T intron_variant ESAD-UK 9 116041866 116041866 single base substitution A G intron_variant ESAD-UK 9 116043162 116043162 single base substitution C G intron_variant ESAD-UK 9 116046065 116046065 single base substitution A T downstream_gene_variant ESAD-UK 9 116046065 116046065 single base substitution A T intron_variant ESAD-UK 9 116047977 116047977 single base substitution T C downstream_gene_variant ESAD-UK 9 116047977 116047977 single base substitution T C intron_variant ESAD-UK 9 116048229 116048229 single base substitution A T downstream_gene_variant ESAD-UK 9 116048229 116048229 single base substitution A T intron_variant ESAD-UK 9 116050810 116050810 single base substitution G A intron_variant ESAD-UK 9 116051449 116051449 single base substitution A G intron_variant ESAD-UK 9 116054230 116054230 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 116059733 116059733 single base substitution A T downstream_gene_variant ESAD-UK 9 116060075 116060075 single base substitution C A downstream_gene_variant LICA-CN 9 116059978 116059978 single base substitution A C downstream_gene_variant LICA-FR 9 116039984 116039984 single base substitution A G intron_variant LICA-FR 9 116039984 116039984 single base substitution A G upstream_gene_variant LICA-FR 9 116053789 116053789 single base substitution C A missense_variant T472K 1415C>A LICA-FR 9 116053789 116053789 single base substitution C A missense_variant T473K 1418C>A LIHC-US 9 116045492 116045492 single base substitution G T downstream_gene_variant LIHC-US 9 116045492 116045492 single base substitution G T splice_donor_variant LIHC-US 9 116049016 116049016 single base substitution C T downstream_gene_variant LIHC-US 9 116049016 116049016 single base substitution C T synonymous_variant F280F 840C>T LIHC-US 9 116049016 116049016 single base substitution C T synonymous_variant F281F 843C>T LINC-JP 9 116041452 116041452 single base substitution C A intron_variant LINC-JP 9 116045409 116045409 single base substitution C G exon_variant LINC-JP 9 116045409 116045409 single base substitution C G splice_region_variant LINC-JP 9 116046747 116046747 single base substitution G A downstream_gene_variant LINC-JP 9 116046747 116046747 single base substitution G A intron_variant LINC-JP 9 116047151 116047151 single base substitution A G downstream_gene_variant LINC-JP 9 116047151 116047151 single base substitution A G intron_variant LINC-JP 9 116048833 116048833 single base substitution G T downstream_gene_variant LINC-JP 9 116048833 116048833 single base substitution G T intron_variant LINC-JP 9 116048889 116048889 single base substitution A T downstream_gene_variant LINC-JP 9 116048889 116048889 single base substitution A T intron_variant LINC-JP 9 116049875 116049875 single base substitution A G downstream_gene_variant LINC-JP 9 116049875 116049875 single base substitution A G intron_variant LIRI-JP 9 116033274 116033274 single base substitution A T upstream_gene_variant LIRI-JP 9 116037762 116037763 deletion of <=200bp CT - 5_prime_UTR_variant LIRI-JP 9 116037762 116037763 deletion of <=200bp CT - upstream_gene_variant LIRI-JP 9 116039701 116039701 single base substitution T G intron_variant LIRI-JP 9 116039701 116039701 single base substitution T G upstream_gene_variant LIRI-JP 9 116040883 116040883 single base substitution A G intron_variant LIRI-JP 9 116040883 116040883 single base substitution A G upstream_gene_variant LIRI-JP 9 116043642 116043642 single base substitution T A intron_variant LIRI-JP 9 116044316 116044316 single base substitution A C intron_variant LIRI-JP 9 116045746 116045746 single base substitution T A downstream_gene_variant LIRI-JP 9 116045746 116045746 single base substitution T A missense_variant L213Q 638T>A LIRI-JP 9 116045746 116045746 single base substitution T A missense_variant L214Q 641T>A LIRI-JP 9 116052331 116052331 single base substitution C A intron_variant LIRI-JP 9 116052915 116052915 single base substitution C G intron_variant LIRI-JP 9 116054052 116054052 single base substitution A G 3_prime_UTR_variant LIRI-JP 9 116055115 116055115 single base substitution A G 3_prime_UTR_variant LIRI-JP 9 116055115 116055115 single base substitution A G downstream_gene_variant LIRI-JP 9 116058198 116058198 single base substitution A G downstream_gene_variant LUSC-KR 9 116039668 116039668 single base substitution G T intron_variant LUSC-KR 9 116039668 116039668 single base substitution G T upstream_gene_variant LUSC-KR 9 116044952 116044952 single base substitution G C exon_variant LUSC-KR 9 116044952 116044952 single base substitution G C missense_variant G140A 419G>C LUSC-KR 9 116044952 116044952 single base substitution G C missense_variant G141A 422G>C LUSC-KR 9 116045181 116045181 single base substitution T A exon_variant LUSC-KR 9 116045181 116045181 single base substitution T A intron_variant LUSC-KR 9 116046052 116046052 single base substitution G C downstream_gene_variant LUSC-KR 9 116046052 116046052 single base substitution G C intron_variant LUSC-KR 9 116049826 116049826 single base substitution G C downstream_gene_variant LUSC-KR 9 116049826 116049826 single base substitution G C intron_variant LUSC-KR 9 116059174 116059174 single base substitution A C downstream_gene_variant LUSC-US 9 116045413 116045413 single base substitution A G exon_variant LUSC-US 9 116045413 116045413 single base substitution A G missense_variant Y161C 482A>G LUSC-US 9 116045413 116045413 single base substitution A G missense_variant Y162C 485A>G LUSC-US 9 116049074 116049074 single base substitution G A downstream_gene_variant LUSC-US 9 116049074 116049074 single base substitution G A missense_variant A300T 898G>A LUSC-US 9 116049074 116049074 single base substitution G A missense_variant A301T 901G>A MALY-DE 9 116034930 116034930 single base substitution T C upstream_gene_variant MALY-DE 9 116035138 116035138 single base substitution A G upstream_gene_variant MALY-DE 9 116037902 116037902 single base substitution C T 5_prime_UTR_variant MALY-DE 9 116037902 116037902 single base substitution C T upstream_gene_variant MALY-DE 9 116047045 116047045 single base substitution A C downstream_gene_variant MALY-DE 9 116047045 116047045 single base substitution A C intron_variant MALY-DE 9 116051263 116051263 single base substitution C A intron_variant MELA-AU 9 116032928 116032928 single base substitution G A upstream_gene_variant MELA-AU 9 116033749 116033749 single base substitution G A upstream_gene_variant MELA-AU 9 116037691 116037691 single base substitution G A 5_prime_UTR_variant MELA-AU 9 116037691 116037691 single base substitution G A upstream_gene_variant MELA-AU 9 116037926 116037926 single base substitution C T 5_prime_UTR_variant MELA-AU 9 116037926 116037926 single base substitution C T upstream_gene_variant MELA-AU 9 116037944 116037944 single base substitution C T 5_prime_UTR_variant MELA-AU 9 116037944 116037944 single base substitution C T upstream_gene_variant MELA-AU 9 116037945 116037945 single base substitution C T 5_prime_UTR_variant MELA-AU 9 116037945 116037945 single base substitution C T upstream_gene_variant MELA-AU 9 116037952 116037952 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 9 116037952 116037952 single base substitution C T upstream_gene_variant MELA-AU 9 116038212 116038212 single base substitution G A intron_variant MELA-AU 9 116038212 116038212 single base substitution G A upstream_gene_variant MELA-AU 9 116038887 116038887 single base substitution C G missense_variant I29M 87C>G MELA-AU 9 116038887 116038887 single base substitution C G missense_variant I30M 90C>G MELA-AU 9 116038887 116038887 single base substitution C G upstream_gene_variant MELA-AU 9 116039126 116039126 single base substitution C T intron_variant MELA-AU 9 116039126 116039126 single base substitution C T upstream_gene_variant MELA-AU 9 116039174 116039174 single base substitution A G intron_variant MELA-AU 9 116039174 116039174 single base substitution A G upstream_gene_variant MELA-AU 9 116039790 116039790 single base substitution C T intron_variant MELA-AU 9 116039790 116039790 single base substitution C T upstream_gene_variant MELA-AU 9 116040422 116040422 single base substitution T A intron_variant MELA-AU 9 116040422 116040422 single base substitution T A upstream_gene_variant MELA-AU 9 116041613 116041613 single base substitution C T intron_variant MELA-AU 9 116041616 116041616 insertion of <=200bp - TTTTG intron_variant MELA-AU 9 116041616 116041620 deletion of <=200bp TTTTG - intron_variant MELA-AU 9 116041684 116041684 single base substitution C T intron_variant MELA-AU 9 116041959 116041959 single base substitution G A intron_variant MELA-AU 9 116042051 116042051 single base substitution C T intron_variant MELA-AU 9 116042573 116042573 single base substitution C T intron_variant MELA-AU 9 116043546 116043546 single base substitution C T intron_variant MELA-AU 9 116043584 116043584 single base substitution C T intron_variant MELA-AU 9 116045060 116045060 single base substitution G A exon_variant MELA-AU 9 116045060 116045060 single base substitution G A intron_variant MELA-AU 9 116045453 116045453 single base substitution G A exon_variant MELA-AU 9 116045453 116045453 single base substitution G A synonymous_variant K174K 522G>A MELA-AU 9 116045453 116045453 single base substitution G A synonymous_variant K175K 525G>A MELA-AU 9 116045482 116045482 single base substitution C T downstream_gene_variant MELA-AU 9 116045482 116045482 single base substitution C T missense_variant S184L 551C>T MELA-AU 9 116045482 116045482 single base substitution C T missense_variant S185L 554C>T MELA-AU 9 116045656 116045656 single base substitution T C downstream_gene_variant MELA-AU 9 116045656 116045656 single base substitution T C intron_variant MELA-AU 9 116045700 116045700 single base substitution C A downstream_gene_variant MELA-AU 9 116045700 116045700 single base substitution C A missense_variant H198N 592C>A MELA-AU 9 116045700 116045700 single base substitution C A missense_variant H199N 595C>A MELA-AU 9 116046527 116046527 single base substitution G A downstream_gene_variant MELA-AU 9 116046527 116046527 single base substitution G A intron_variant MELA-AU 9 116047320 116047320 single base substitution A G downstream_gene_variant MELA-AU 9 116047320 116047320 single base substitution A G intron_variant MELA-AU 9 116047850 116047850 single base substitution G A downstream_gene_variant MELA-AU 9 116047850 116047850 single base substitution G A intron_variant MELA-AU 9 116047935 116047935 single base substitution G A downstream_gene_variant MELA-AU 9 116047935 116047935 single base substitution G A intron_variant MELA-AU 9 116048105 116048105 single base substitution A G downstream_gene_variant MELA-AU 9 116048105 116048105 single base substitution A G intron_variant MELA-AU 9 116048218 116048218 single base substitution C T downstream_gene_variant MELA-AU 9 116048218 116048218 single base substitution C T intron_variant MELA-AU 9 116048796 116048796 single base substitution C T downstream_gene_variant MELA-AU 9 116048796 116048796 single base substitution C T intron_variant MELA-AU 9 116048803 116048803 single base substitution G T downstream_gene_variant MELA-AU 9 116048803 116048803 single base substitution G T intron_variant MELA-AU 9 116050098 116050098 single base substitution C T downstream_gene_variant MELA-AU 9 116050098 116050098 single base substitution C T intron_variant MELA-AU 9 116050179 116050179 single base substitution C T downstream_gene_variant MELA-AU 9 116050179 116050179 single base substitution C T intron_variant MELA-AU 9 116050530 116050530 single base substitution C T synonymous_variant F336F 1008C>T MELA-AU 9 116050530 116050530 single base substitution C T synonymous_variant F337F 1011C>T MELA-AU 9 116051123 116051123 single base substitution C T intron_variant MELA-AU 9 116051154 116051154 single base substitution C T intron_variant MELA-AU 9 116051290 116051290 single base substitution A G intron_variant MELA-AU 9 116051795 116051795 single base substitution G A intron_variant MELA-AU 9 116051863 116051863 single base substitution C T intron_variant MELA-AU 9 116052041 116052041 single base substitution C T intron_variant MELA-AU 9 116052585 116052585 single base substitution T A intron_variant MELA-AU 9 116052908 116052908 single base substitution C T intron_variant MELA-AU 9 116053194 116053194 single base substitution G A missense_variant G424S 1270G>A MELA-AU 9 116053194 116053194 single base substitution G A missense_variant G425S 1273G>A MELA-AU 9 116053529 116053529 single base substitution C T intron_variant MELA-AU 9 116053993 116053993 single base substitution C T 3_prime_UTR_variant MELA-AU 9 116054161 116054161 single base substitution T A 3_prime_UTR_variant MELA-AU 9 116054727 116054727 single base substitution C T 3_prime_UTR_variant MELA-AU 9 116055969 116055969 single base substitution C T downstream_gene_variant MELA-AU 9 116056304 116056304 single base substitution C T downstream_gene_variant MELA-AU 9 116056766 116056766 single base substitution C T downstream_gene_variant MELA-AU 9 116057561 116057561 single base substitution C T downstream_gene_variant MELA-AU 9 116057812 116057813 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 116057871 116057871 single base substitution C T downstream_gene_variant MELA-AU 9 116057940 116057940 single base substitution C T downstream_gene_variant MELA-AU 9 116058030 116058030 single base substitution C T downstream_gene_variant MELA-AU 9 116058280 116058280 single base substitution C T downstream_gene_variant MELA-AU 9 116058286 116058286 single base substitution G A downstream_gene_variant MELA-AU 9 116058321 116058321 single base substitution G A downstream_gene_variant MELA-AU 9 116058776 116058776 single base substitution G A downstream_gene_variant MELA-AU 9 116059348 116059348 single base substitution G A downstream_gene_variant MELA-AU 9 116059696 116059696 single base substitution C T downstream_gene_variant MELA-AU 9 116059802 116059802 single base substitution G A downstream_gene_variant MELA-AU 9 116059851 116059851 single base substitution C T downstream_gene_variant ORCA-IN 9 116050404 116050404 single base substitution G A downstream_gene_variant ORCA-IN 9 116050404 116050404 single base substitution G A intron_variant OV-AU 9 116033784 116033784 single base substitution G A upstream_gene_variant OV-AU 9 116037902 116037902 single base substitution C T 5_prime_UTR_variant OV-AU 9 116037902 116037902 single base substitution C T upstream_gene_variant OV-AU 9 116040596 116040596 single base substitution C T intron_variant OV-AU 9 116040596 116040596 single base substitution C T upstream_gene_variant OV-AU 9 116041606 116041606 single base substitution G T intron_variant OV-AU 9 116043201 116043201 single base substitution A C intron_variant OV-AU 9 116050539 116050539 single base substitution C T synonymous_variant T339T 1017C>T OV-AU 9 116050539 116050539 single base substitution C T synonymous_variant T340T 1020C>T OV-AU 9 116050615 116050615 single base substitution C G intron_variant OV-AU 9 116054215 116054215 single base substitution G A 3_prime_UTR_variant OV-AU 9 116057846 116057846 single base substitution G C downstream_gene_variant OV-AU 9 116058472 116058472 single base substitution G C downstream_gene_variant OV-AU 9 116058556 116058556 single base substitution T C downstream_gene_variant PACA-AU 9 116041633 116041633 single base substitution T C intron_variant PACA-AU 9 116041634 116041634 single base substitution T G intron_variant PACA-AU 9 116045193 116045193 deletion of <=200bp T - exon_variant PACA-AU 9 116045193 116045193 deletion of <=200bp T - intron_variant PACA-AU 9 116049915 116049915 single base substitution T C downstream_gene_variant PACA-AU 9 116049915 116049915 single base substitution T C intron_variant PACA-AU 9 116050070 116050070 single base substitution T C downstream_gene_variant PACA-AU 9 116050070 116050070 single base substitution T C intron_variant PACA-AU 9 116054261 116054261 single base substitution G T 3_prime_UTR_variant PACA-CA 9 116033278 116033278 single base substitution A G upstream_gene_variant PACA-CA 9 116033748 116033752 deletion of <=200bp AGAAA - upstream_gene_variant PACA-CA 9 116039918 116039918 single base substitution G A intron_variant PACA-CA 9 116039918 116039918 single base substitution G A upstream_gene_variant PACA-CA 9 116042331 116042331 single base substitution C G intron_variant PACA-CA 9 116042867 116042867 single base substitution C T intron_variant PACA-CA 9 116054272 116054272 single base substitution C T 3_prime_UTR_variant PACA-CA 9 116055942 116055942 single base substitution G A downstream_gene_variant PACA-CA 9 116057763 116057765 deletion of <=200bp CAT - downstream_gene_variant PBCA-DE 9 116034372 116034374 deletion of <=200bp ATT - upstream_gene_variant PBCA-DE 9 116053636 116053637 deletion of <=200bp TG - intron_variant PBCA-DE 9 116059733 116059733 single base substitution A T downstream_gene_variant PRAD-CA 9 116054174 116054174 single base substitution G T 3_prime_UTR_variant PRAD-UK 9 116034889 116034889 single base substitution T G upstream_gene_variant PRAD-UK 9 116036811 116036811 single base substitution A G upstream_gene_variant PRAD-UK 9 116048795 116048795 single base substitution C A downstream_gene_variant PRAD-UK 9 116048795 116048795 single base substitution C A intron_variant PRAD-US 9 116049072 116049072 single base substitution C T downstream_gene_variant PRAD-US 9 116049072 116049072 single base substitution C T missense_variant A299V 896C>T PRAD-US 9 116049072 116049072 single base substitution C T missense_variant A300V 899C>T READ-US 9 116034720 116034720 single base substitution C T upstream_gene_variant RECA-EU 9 116033321 116033321 single base substitution A G upstream_gene_variant RECA-EU 9 116040959 116040959 single base substitution C T intron_variant RECA-EU 9 116040959 116040959 single base substitution C T upstream_gene_variant RECA-EU 9 116046178 116046178 single base substitution T A downstream_gene_variant RECA-EU 9 116046178 116046178 single base substitution T A intron_variant RECA-EU 9 116049076 116049076 single base substitution T C downstream_gene_variant RECA-EU 9 116049076 116049076 single base substitution T C synonymous_variant A300A 900T>C RECA-EU 9 116049076 116049076 single base substitution T C synonymous_variant A301A 903T>C RECA-EU 9 116049379 116049379 single base substitution G T downstream_gene_variant RECA-EU 9 116049379 116049379 single base substitution G T intron_variant RECA-EU 9 116050626 116050626 single base substitution T G intron_variant RECA-EU 9 116053052 116053052 single base substitution G A synonymous_variant L406L 1218G>A RECA-EU 9 116053052 116053052 single base substitution G A synonymous_variant L407L 1221G>A SKCA-BR 9 116035696 116035696 single base substitution A G upstream_gene_variant SKCA-BR 9 116035890 116035890 single base substitution T G upstream_gene_variant SKCA-BR 9 116037333 116037333 single base substitution A T upstream_gene_variant SKCA-BR 9 116037799 116037799 single base substitution C T 5_prime_UTR_variant SKCA-BR 9 116037799 116037799 single base substitution C T upstream_gene_variant SKCA-BR 9 116037944 116037944 single base substitution C T 5_prime_UTR_variant SKCA-BR 9 116037944 116037944 single base substitution C T upstream_gene_variant SKCA-BR 9 116043752 116043752 single base substitution T C intron_variant SKCA-BR 9 116048077 116048077 single base substitution T A downstream_gene_variant SKCA-BR 9 116048077 116048077 single base substitution T A intron_variant SKCA-BR 9 116048218 116048218 single base substitution C T downstream_gene_variant SKCA-BR 9 116048218 116048218 single base substitution C T intron_variant SKCA-BR 9 116049016 116049016 single base substitution C T downstream_gene_variant SKCA-BR 9 116049016 116049016 single base substitution C T synonymous_variant F280F 840C>T SKCA-BR 9 116049016 116049016 single base substitution C T synonymous_variant F281F 843C>T SKCA-BR 9 116051474 116051474 single base substitution C T intron_variant SKCA-BR 9 116053654 116053654 single base substitution T C intron_variant SKCA-BR 9 116056818 116056819 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 9 116056819 116056819 single base substitution A C downstream_gene_variant SKCA-BR 9 116057581 116057581 single base substitution C T downstream_gene_variant SKCA-BR 9 116057792 116057792 single base substitution C T downstream_gene_variant SKCA-BR 9 116058563 116058563 insertion of <=200bp - GT downstream_gene_variant SKCM-US 9 116038899 116038899 single base substitution T C synonymous_variant S33S 99T>C SKCM-US 9 116038899 116038899 single base substitution T C synonymous_variant S34S 102T>C SKCM-US 9 116038899 116038899 single base substitution T C upstream_gene_variant SKCM-US 9 116041300 116041300 single base substitution G A missense_variant R94Q 281G>A SKCM-US 9 116041300 116041300 single base substitution G A missense_variant R95Q 284G>A SKCM-US 9 116041300 116041300 single base substitution G A upstream_gene_variant SKCM-US 9 116045453 116045453 single base substitution G A exon_variant SKCM-US 9 116045453 116045453 single base substitution G A synonymous_variant K174K 522G>A SKCM-US 9 116045453 116045453 single base substitution G A synonymous_variant K175K 525G>A SKCM-US 9 116045468 116045468 single base substitution G T downstream_gene_variant SKCM-US 9 116045468 116045468 single base substitution G T missense_variant W179C 537G>T SKCM-US 9 116045468 116045468 single base substitution G T missense_variant W180C 540G>T SKCM-US 9 116045700 116045700 single base substitution C A downstream_gene_variant SKCM-US 9 116045700 116045700 single base substitution C A missense_variant H198N 592C>A SKCM-US 9 116045700 116045700 single base substitution C A missense_variant H199N 595C>A SKCM-US 9 116046646 116046646 single base substitution C T downstream_gene_variant SKCM-US 9 116046646 116046646 single base substitution C T synonymous_variant S242S 726C>T SKCM-US 9 116046646 116046646 single base substitution C T synonymous_variant S243S 729C>T SKCM-US 9 116053831 116053831 single base substitution C T missense_variant T486I 1457C>T SKCM-US 9 116053831 116053831 single base substitution C T missense_variant T487I 1460C>T SKCM-US 9 116059999 116059999 single base substitution G A downstream_gene_variant SKCM-US 9 116060000 116060000 single base substitution G A downstream_gene_variant SKCM-US 9 116060012 116060012 single base substitution C T downstream_gene_variant SKCM-US 9 116060144 116060144 single base substitution G A downstream_gene_variant STAD-US 9 116038946 116038946 insertion of <=200bp - T frameshift_variant I49I? STAD-US 9 116038946 116038946 insertion of <=200bp - T frameshift_variant I50I? STAD-US 9 116038946 116038946 insertion of <=200bp - T upstream_gene_variant STAD-US 9 116041256 116041256 single base substitution C T synonymous_variant S79S 237C>T STAD-US 9 116041256 116041256 single base substitution C T synonymous_variant S80S 240C>T STAD-US 9 116041256 116041256 single base substitution C T upstream_gene_variant STAD-US 9 116041260 116041260 single base substitution C T stop_gained R81* 241C>T STAD-US 9 116041260 116041260 single base substitution C T stop_gained R82* 244C>T STAD-US 9 116041260 116041260 single base substitution C T upstream_gene_variant STAD-US 9 116044975 116044975 deletion of <=200bp A - exon_variant STAD-US 9 116044975 116044975 deletion of <=200bp A - frameshift_variant K148 STAD-US 9 116044975 116044975 deletion of <=200bp A - frameshift_variant K149 STAD-US 9 116049018 116049018 single base substitution A G downstream_gene_variant STAD-US 9 116049018 116049018 single base substitution A G missense_variant H281R 842A>G STAD-US 9 116049018 116049018 single base substitution A G missense_variant H282R 845A>G STAD-US 9 116053015 116053015 single base substitution G T missense_variant R394L 1181G>T STAD-US 9 116053015 116053015 single base substitution G T missense_variant R395L 1184G>T STAD-US 9 116053021 116053021 single base substitution G A missense_variant G396E 1187G>A STAD-US 9 116053021 116053021 single base substitution G A missense_variant G397E 1190G>A STAD-US 9 116053805 116053805 single base substitution G A synonymous_variant T477T 1431G>A STAD-US 9 116053805 116053805 single base substitution G A synonymous_variant T478T 1434G>A THCA-SA 9 116048519 116048519 single base substitution C T downstream_gene_variant THCA-SA 9 116048519 116048519 single base substitution C T missense_variant L253F 757C>T THCA-SA 9 116048519 116048519 single base substitution C T missense_variant L254F 760C>T UCEC-US 9 116038824 116038824 single base substitution G A splice_acceptor_variant UCEC-US 9 116038824 116038824 single base substitution G A splice_region_variant UCEC-US 9 116038824 116038824 single base substitution G A upstream_gene_variant UCEC-US 9 116038992 116038992 single base substitution T C synonymous_variant I64I 192T>C UCEC-US 9 116038992 116038992 single base substitution T C synonymous_variant I65I 195T>C UCEC-US 9 116038992 116038992 single base substitution T C upstream_gene_variant UCEC-US 9 116041388 116041388 single base substitution G A exon_variant UCEC-US 9 116041388 116041388 single base substitution G A synonymous_variant E123E 369G>A UCEC-US 9 116041388 116041388 single base substitution G A synonymous_variant E124E 372G>A UCEC-US 9 116046587 116046587 single base substitution T G downstream_gene_variant UCEC-US 9 116046587 116046587 single base substitution T G missense_variant F223V 667T>G UCEC-US 9 116046587 116046587 single base substitution T G missense_variant F224V 670T>G UCEC-US 9 116050499 116050499 single base substitution C T missense_variant A326V 977C>T UCEC-US 9 116050499 116050499 single base substitution C T missense_variant A327V 980C>T UCEC-US 9 116053083 116053083 single base substitution A G missense_variant N417D 1249A>G UCEC-US 9 116053083 116053083 single base substitution A G missense_variant N418D 1252A>G UCEC-US 9 116053878 116053878 single base substitution G A missense_variant D502N 1504G>A UCEC-US 9 116053878 116053878 single base substitution G A missense_variant D503N 1507G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AX-A063-01 COSM1104210 c.372G>A p.E124E Substitution - coding silent 9:113279108-113279108 + TCGA-D9-A3Z1-06 COSM3653188 c.284G>A p.R95Q Substitution - Missense 9:113279020-113279020 + TCGA-Q1-A73O-01 COSM4835766 c.809G>A p.R270Q Substitution - Missense 9:113286288-113286288 + TCGA-FU-A3HY-01 COSM4838554 c.484-3C>T p.? Unknown 9:113283129-113283129 + LIM2405 COSM4643291 c.1313A>G p.Q438R Substitution - Missense 9:113290954-113290954 + T3610 COSM4717992 c.421G>A p.G141S Substitution - Missense 9:113282671-113282671 + TCGA-AY-6197-01 COSM1459403 c.230A>C p.E77A Substitution - Missense 9:113278966-113278966 + JVM-2 COSM1739603 c.895T>A p.C299S Substitution - Missense 9:113286788-113286788 + BZ04 COSM4717992 c.421G>A p.G141S Substitution - Missense 9:113282671-113282671 + HCC83T COSM3664020 c.484-3C>G p.? Unknown 9:113283129-113283129 + C0075T COSM4138810 c.1221G>A p.L407L Substitution - coding silent 9:113290772-113290772 + CRC-02T COSM5455718 c.1510G>A p.G504R Substitution - Missense 9:113291601-113291601 + 25 COSM87809 c.373G>A p.G125S Substitution - Missense 9:113279109-113279109 + ME018T COSM225287 c.595C>T p.H199Y Substitution - Missense 9:113283420-113283420 + TCGA-25-1329-01 COSM72305 c.1463T>A p.L488Q Substitution - Missense 9:113291554-113291554 + TCGA-AA-3845-01 COSM295351 c.13C>T p.R5* Substitution - Nonsense 9:113275756-113275756 + TCGA-B5-A0K2-01 COSM1104208 c.146G>T p.G49V Substitution - Missense 9:113276663-113276663 + TCGA-BT-A2LB-01 COSM1222166 c.937G>A p.D313N Substitution - Missense 9:113288176-113288176 + TCGA-AX-A0J1-01 COSM1104207 c.28-1G>A p.? Unknown 9:113276544-113276544 + TCGA-ER-A19K-01 COSM3653190 c.540G>T p.W180C Substitution - Missense 9:113283188-113283188 + HCC83 COSM3664020 c.484-3C>G p.? Unknown 9:113283129-113283129 + GHE0436 COSM5713762 c.1206C>G p.F402L Substitution - Missense 9:113290757-113290757 + TCGA-EE-A2M5-06 COSM3653191 c.595C>A p.H199N Substitution - Missense 9:113283420-113283420 + TCGA-BH-A0E6-01 COSM455179 c.57C>T p.D19D Substitution - coding silent 9:113276574-113276574 + 396 COSM4428889 c.92A>G p.Y31C Substitution - Missense 9:113276609-113276609 + BZ16 COSM5758392 c.1303G>A p.D435N Substitution - Missense 9:113290944-113290944 + TCGA-CG-4442-01 COSM1459405 c.1434G>A p.T478T Substitution - coding silent 9:113291525-113291525 + C0023T COSM4138809 c.903T>C p.A301A Substitution - coding silent 9:113286796-113286796 + TCGA-AP-A059-01 COSM1104209 c.195T>C p.I65I Substitution - coding silent 9:113276712-113276712 + PTC-7C COSM4163232 c.766A>C p.K256Q Substitution - Missense 9:113286245-113286245 + TCGA-E5-A2PC-01 COSM1314382 c.1316G>T p.R439L Substitution - Missense 9:113290957-113290957 + TCGA-AA-3713-01 COSM1459404 c.1375+1G>A p.? Unknown 9:113291017-113291017 + TCGA-BR-A4PE-01 COSM3903203 c.1190G>A p.G397E Substitution - Missense 9:113290741-113290741 + 587226 COSM1222164 c.244C>T p.R82* Substitution - Nonsense 9:113278980-113278980 + SNU-C2B COSM3170631 c.162C>T p.D54D Substitution - coding silent 9:113276679-113276679 + TCGA-AR-A256-01 COSM1489585 c.1270A>C p.T424P Substitution - Missense 9:113290911-113290911 + PT40 COSM5923850 c.397T>C p.L133L Substitution - coding silent 9:113282647-113282647 + HCT8 COSM4635667 c.1459A>G p.T487A Substitution - Missense 9:113291550-113291550 + TCGA-A5-A0GB-01 COSM1104212 c.980C>T p.A327V Substitution - Missense 9:113288219-113288219 + TCGA-AA-A00N-01 COSM276916 c.931G>A p.D311N Substitution - Missense 9:113286824-113286824 + ccRCC-34 COSM1663696 c.1471C>T p.H491Y Substitution - Missense 9:113291562-113291562 + WSU-HN13 COSM4601546 c.1335C>G p.I445M Substitution - Missense 9:113290976-113290976 + SNUH_G15_S1 COSM3685460 c.884A>C p.N295T Substitution - Missense 9:113286777-113286777 + TCGA-FW-A3R5-06 COSM3925970 c.1460C>T p.T487I Substitution - Missense 9:113291551-113291551 + CLL072 COSM1292773 c.765C>T p.C255C Substitution - coding silent 9:113286244-113286244 + LUAD-UF7HM COSM347775 c.1192C>T p.R398C Substitution - Missense 9:113290743-113290743 + AOCS-130-1-0 COSM4151998 c.1020C>T p.T340T Substitution - coding silent 9:113288259-113288259 + TCGA-BR-8680-01 COSM1222164 c.244C>T p.R82* Substitution - Nonsense 9:113278980-113278980 + TCGA-G2-A2EO-01 COSM1314383 c.1564G>C p.E522Q Substitution - Missense 9:113291655-113291655 + TCGA-22-4595-01 COSM751995 c.485A>G p.Y162C Substitution - Missense 9:113283133-113283133 + PD4100a COSM163763 c.717T>C p.F239F Substitution - coding silent 9:113284354-113284354 + BCM723T COSM4956428 c.1418C>A p.T473K Substitution - Missense 9:113291509-113291509 + TCGA-KK-A6E6-01 COSM4879099 c.899C>T p.A300V Substitution - Missense 9:113286792-113286792 + TCGA-BR-A4J8-01 COSM3903200 c.240C>T p.S80S Substitution - coding silent 9:113278976-113278976 + PT52 COSM5939950 c.1523C>T p.A508V Substitution - Missense 9:113291614-113291614 + TCGA-39-5029-01 COSM751994 c.901G>A p.A301T Substitution - Missense 9:113286794-113286794 + 587376 COSM1222165 c.1245C>A p.F415L Substitution - Missense 9:113290796-113290796 + TCGA-Q1-A73O-01 COSM4835392 c.391G>C p.E131Q Substitution - Missense 9:113279127-113279127 + TCGA-D8-A1XL-01 COSM1489586 c.1542G>C p.R514S Substitution - Missense 9:113291633-113291633 + PD18149a COSM5783852 c.252A>T p.A84A Substitution - coding silent 9:113278988-113278988 + sysucc-882T COSM5447825 c.196A>G p.N66D Substitution - Missense 9:113276713-113276713 + SC_9092 COSM4835766 c.809G>A p.R270Q Substitution - Missense 9:113286288-113286288 + BCM723T COSM4956428 c.1418C>A p.T473K Substitution - Missense 9:113291509-113291509 + KPOPBR-36-T COSM5963488 c.317C>T p.S106L Substitution - Missense 9:113279053-113279053 + T2957 COSM3170630 c.151T>C p.L51L Substitution - coding silent 9:113276668-113276668 + PR-04-639 COSM246794 c.1376-2A>G p.? Unknown 9:113291465-113291465 + TCGA-AA-A01Z-01 COSM300439 c.589C>T p.R197* Substitution - Nonsense 9:113283414-113283414 + TCGA-D8-A1Y1-01 COSM1489587 c.1552C>T p.L518L Substitution - coding silent 9:113291643-113291643 + 1_PRE-TREATMENT COSM1720136 c.1505C>T p.S502F Substitution - Missense 9:113291596-113291596 + I2L-P7-Tumor-Organoid COSM5359663 c.638A>G p.E213G Substitution - Missense 9:113283463-113283463 + YUCHIME COSM1701540 c.1256G>A p.G419D Substitution - Missense 9:113290807-113290807 + TCGA-FU-A5XV-01 COSM4844187 c.206C>T p.S69F Substitution - Missense 9:113276723-113276723 + TCGA-B5-A0JY-01 COSM1104211 c.670T>G p.F224V Substitution - Missense 9:113284307-113284307 + TCGA-AX-A063-01 COSM1104213 c.1252A>G p.N418D Substitution - Missense 9:113290803-113290803 + PTC_279 COSM5959582 c.760C>T p.L254F Substitution - Missense 9:113286239-113286239 + SNUH_G16_S1 COSM3982707 c.1034G>A p.R345H Substitution - Missense 9:113290474-113290474 + TCGA-AU-6004-01 COSM1459405 c.1434G>A p.T478T Substitution - coding silent 9:113291525-113291525 + PR-09-5700 COSM246795 c.1178A>G p.D393G Substitution - Missense 9:113290729-113290729 + ESO-859 COSM1239956 c.19T>A p.S7T Substitution - Missense 9:113275762-113275762 + TCGA-AM-5820-01 COSM3763544 c.468A>G p.K156K Substitution - coding silent 9:113282718-113282718 + TCGA-13-0919-01 COSM78357 c.418G>A p.V140I Substitution - Missense 9:113282668-113282668 + TCGA-EE-A2MJ-06 COSM3653187 c.102T>C p.S34S Substitution - coding silent 9:113276619-113276619 + PTC-7C COSM3763544 c.468A>G p.K156K Substitution - coding silent 9:113282718-113282718 + TCGA-EE-A2GD-06 COSM3653192 c.729C>T p.S243S Substitution - coding silent 9:113284366-113284366 + TCGA-DD-A73F-01 COSM4935464 c.563+1G>T p.? Unknown 9:113283212-113283212 + 2521259 COSM5890433 c.473C>T p.S158F Substitution - Missense 9:113282723-113282723 + S01020 COSM5665410 c.570G>A p.M190I Substitution - Missense 9:113283395-113283395 + CRC-23T COSM5482650 c.483+2T>A p.? Unknown 9:113282735-113282735 + TCGA-BR-6452-01 COSM3903201 c.845A>G p.H282R Substitution - Missense 9:113286738-113286738 + 18195 COSM1314382 c.1316G>T p.R439L Substitution - Missense 9:113290957-113290957 + 177T COSM1726201 c.1232A>G p.Y411C Substitution - Missense 9:113290783-113290783 + TCGA-EP-A2KC-01 COSM4913781 c.843C>T p.F281F Substitution - coding silent 9:113286736-113286736 + TCGA-IR-A3LI-01 COSM4846224 c.483+4G>C p.? Unknown 9:113282737-113282737 + TCGA-A8-A08T-01 COSM455181 c.983delG p.V329fs*1 Deletion - Frameshift 9:113288222-113288222 + C086 COSM5537647 c.1392C>T p.F464F Substitution - coding silent 9:113291483-113291483 + 587246 COSM1222166 c.937G>A p.D313N Substitution - Missense 9:113288176-113288176 + TCGA-A6-5661-01 COSM1459402 c.156G>A p.G52G Substitution - coding silent 9:113276673-113276673 + TCGA-BR-4184-01 COSM3903202 c.1184G>T p.R395L Substitution - Missense 9:113290735-113290735 + TCGA-BG-A18B-01 COSM1104214 c.1507G>A p.D503N Substitution - Missense 9:113291598-113291598 + YUCHIME COSM1686592 c.1256+1G>A p.? Unknown 9:113290808-113290808 + TCGA-EE-A20C-06 COSM3653189 c.525G>A p.K175K Substitution - coding silent 9:113283173-113283173 + T2940 COSM4717993 c.1375C>T p.P459S Substitution - Missense 9:113291016-113291016 + 1_RESISTANT COSM1720136 c.1505C>T p.S502F Substitution - Missense 9:113291596-113291596 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.374973 9q31-q33 607795

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.T424P c.1270A>C 9 116053191 BRCA A G Missense p.I67V c.199A>G 9 116038996 HNSC A G Missense p.N418D c.1252A>G 9 116053083 UCEC A G Missense p.Y162C c.485A>G 9 116045413 LUSC - ATTT IntronicInsertion . c.396-22_396-21insATTT 9 116044904 CLL C A Missense p.H199N c.595C>A 9 116045700 CM C T 5-UTRSNV . c.1-131C>T 9 116037893 CM C T 5-UTRSNV . c.1-77C>T 9 116037947 CM C T 5-UTRSNV . c.1-98C>T 9 116037926 CM C T IntronicSNV . c.484-131C>T 9 116045281 CM C T IntronicSNV . c.484-22C>T 9 116045390 CM C T Missense p.A300V c.899C>T 9 116049072 PRAD C T Missense p.A327V c.980C>T 9 116050499 UCEC C T Missense p.H199Y c.595C>T 9 116045700 CM C T Nonsense p.R197* c.589C>T 9 116045694 COREAD C T Synonymous p.C255C c.765C>T 9 116048524 CLL C T Synonymous p.D19D c.57C>T 9 116038854 BRCA C T Synonymous p.L518L c.1552C>T 9 116053923 BRCA C T Synonymous p.S243S c.729C>T 9 116046646 CM G A Missense p.A301T c.901G>A 9 116049074 LUSC G A Missense p.A521T c.1561G>A 9 116053932 LUAD G A Missense p.D313N c.937G>A 9 116050456 BLCA G A Missense p.D503N c.1507G>A 9 116053878 UCEC G A Missense p.R42H c.125G>A 9 116038922 GBM G A Missense p.R93K c.278G>A 9 116041294 CM G A Missense p.V140I c.418G>A 9 116044948 OV G A Synonymous p.E124E c.372G>A 9 116041388 UCEC G A Synonymous p.K175K c.525G>A 9 116045453 CM G C Missense p.C255S c.764G>C 9 116048523 BRCA G C Missense p.E522Q c.1564G>C 9 116053935 BLCA G C Missense p.R514S c.1542G>C 9 116053913 BRCA G - Frameshift p.V329*fs*1 c.985delG 9 116050502 BRCA G T Missense p.G125C c.373G>T 9 116041389 LUAD G T Missense p.R439L c.1316G>T 9 116053237 BLCA G T Missense p.W180C c.540G>T 9 116045468 CM T A Missense p.L488Q c.1463T>A 9 116053834 OV T A Missense p.S7T c.19T>A 9 116038042 ESCA T C Missense p.I358T c.1073T>C 9 116052793 CM T C Missense p.I476T c.1427T>C 9 116053798 LUAD T C Synonymous p.F239F c.717T>C 9 116046634 BRCA T C Synonymous p.S34S c.102T>C 9 116038899 CM