Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 23 48814313 48814313 + Missense_Mutation SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:48814313C>A c.520G>T c.(520-522)Ggc>Tgc p.G174C BLCA 23 48780496 48780496 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chrX:48780496C>T c.1671G>A c.(1669-1671)atG>atA p.M557I BLCA 23 48781020 48781020 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 g.chrX:48781020G>A c.1484C>T c.(1483-1485)aCa>aTa p.T495I BRCA 23 48780995 48780995 + Silent SNP G G A TCGA-D8-A1JK-01A-11D-A13L-09 TCGA-D8-A1JK-10A-01D-A13O-09 g.chrX:48780995G>A c.1509C>T c.(1507-1509)gcC>gcT p.A503A CESC 23 48781175 48781175 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 g.chrX:48781175G>T c.1433C>A c.(1432-1434)cCa>cAa p.P478Q CESC 23 48792055 48792055 + Missense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chrX:48792055C>T c.839G>A c.(838-840)gGc>gAc p.G280D CESC 23 48792259 48792259 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chrX:48792259C>T c.721G>A c.(721-723)Gag>Aag p.E241K CESC 23 48801543 48801543 + Splice_Site SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 g.chrX:48801543T>C c.596A>G c.(595-597)cAg>cGg p.Q199R CHOL 23 48801512 48801512 + Missense_Mutation SNP G G T TCGA-W5-AA2W-01A-11D-A417-09 TCGA-W5-AA2W-10A-01D-A41A-09 g.chrX:48801512G>T c.627C>A c.(625-627)gaC>gaA p.D209E COAD 23 48780945 48780945 + Missense_Mutation SNP C C T TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chrX:48780945C>T c.1559G>A c.(1558-1560)cGg>cAg p.R520Q COAD 23 48781141 48781141 + Silent SNP C C G TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chrX:48781141C>G c.1467G>C c.(1465-1467)tcG>tcC p.S489S COAD 23 48781142 48781142 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:48781142G>A c.1466C>T c.(1465-1467)tCg>tTg p.S489L COAD 23 48783167 48783167 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:48783167G>A c.1234C>T c.(1234-1236)Cgg>Tgg p.R412W COAD 23 48791845 48791845 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:48791845G>A c.966C>T c.(964-966)gaC>gaT p.D322D COAD 23 48792074 48792074 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chrX:48792074G>A c.820C>T c.(820-822)Cgg>Tgg p.R274W COAD 23 48801473 48801473 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chrX:48801473G>A c.666C>T c.(664-666)ggC>ggT p.G222G COAD 23 48814355 48814355 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chrX:48814355C>T c.478G>A c.(478-480)Gcg>Acg p.A160T COAD 23 48814791 48814791 + Silent SNP G G A TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chrX:48814791G>A c.42C>T c.(40-42)gcC>gcT p.A14A COADREAD 23 48780945 48780945 + Missense_Mutation SNP C C T TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chrX:48780945C>T c.1559G>A c.(1558-1560)cGg>cAg p.R520Q COADREAD 23 48781141 48781141 + Silent SNP C C G TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chrX:48781141C>G c.1467G>C c.(1465-1467)tcG>tcC p.S489S COADREAD 23 48781142 48781142 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chrX:48781142G>A c.1466C>T c.(1465-1467)tCg>tTg p.S489L COADREAD 23 48783167 48783167 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:48783167G>A c.1234C>T c.(1234-1236)Cgg>Tgg p.R412W COADREAD 23 48791845 48791845 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:48791845G>A c.966C>T c.(964-966)gaC>gaT p.D322D COADREAD 23 48792074 48792074 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chrX:48792074G>A c.820C>T c.(820-822)Cgg>Tgg p.R274W COADREAD 23 48801473 48801473 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chrX:48801473G>A c.666C>T c.(664-666)ggC>ggT p.G222G COADREAD 23 48814355 48814355 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chrX:48814355C>T c.478G>A c.(478-480)Gcg>Acg p.A160T COADREAD 23 48814791 48814791 + Silent SNP G G A TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chrX:48814791G>A c.42C>T c.(40-42)gcC>gcT p.A14A DLBC 23 48783183 48783183 + Silent SNP G G C TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chrX:48783183G>C c.1218C>G c.(1216-1218)tcC>tcG p.S406S ESCA 23 48814242 48814242 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chrX:48814242C>T c.591G>A c.(589-591)gaG>gaA p.E197E GBM 23 48814296 48814296 + Silent SNP G G A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 g.chrX:48814296G>A c.537C>T c.(535-537)gaC>gaT p.D179D GBM 23 48814319 48814319 + Missense_Mutation SNP C C T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chrX:48814319C>T c.514G>A c.(514-516)Ggc>Agc p.G172S GBMLGG 23 48780953 48780953 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:48780953C>A c.1551G>T c.(1549-1551)ttG>ttT p.L517F GBMLGG 23 48791845 48791845 + Silent SNP G G A TCGA-DU-7018-01A-11D-2024-08 TCGA-DU-7018-10A-01D-2024-08 g.chrX:48791845G>A c.966C>T c.(964-966)gaC>gaT p.D322D GBMLGG 23 48792064 48792064 + Missense_Mutation SNP T T C TCGA-S9-A6U2-01A-21D-A33T-08 TCGA-S9-A6U2-10A-01D-A33W-08 g.chrX:48792064T>C c.830A>G c.(829-831)aAt>aGt p.N277S GBMLGG 23 48814296 48814296 + Silent SNP G G A TCGA-26-5136-01B-01D-1486-08 TCGA-26-5136-10A-01D-1486-08 g.chrX:48814296G>A c.537C>T c.(535-537)gaC>gaT p.D179D GBMLGG 23 48814319 48814319 + Missense_Mutation SNP C C T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chrX:48814319C>T c.514G>A c.(514-516)Ggc>Agc p.G172S HNSC 23 48780923 48780923 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chrX:48780923G>T c.1581C>A c.(1579-1581)tcC>tcA p.S527S HNSC 23 48781242 48781242 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 g.chrX:48781242G>A c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W HNSC 23 48783269 48783269 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chrX:48783269C>G c.1132G>C c.(1132-1134)Gaa>Caa p.E378Q HNSC 23 48792042 48792042 + Silent SNP C C T TCGA-IQ-A61L-01A-11D-A30E-08 TCGA-IQ-A61L-10A-01D-A30H-08 g.chrX:48792042C>T c.852G>A c.(850-852)gaG>gaA p.E284E LGG 23 48780953 48780953 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:48780953C>A c.1551G>T c.(1549-1551)ttG>ttT p.L517F LGG 23 48791845 48791845 + Silent SNP G G A TCGA-DU-7018-01A-11D-2024-08 TCGA-DU-7018-10A-01D-2024-08 g.chrX:48791845G>A c.966C>T c.(964-966)gaC>gaT p.D322D LGG 23 48792064 48792064 + Missense_Mutation SNP T T C TCGA-S9-A6U2-01A-21D-A33T-08 TCGA-S9-A6U2-10A-01D-A33W-08 g.chrX:48792064T>C c.830A>G c.(829-831)aAt>aGt p.N277S LIHC 23 48814825 48814825 + Missense_Mutation SNP A A G TCGA-FV-A4ZP-01A-12D-A25V-10 TCGA-FV-A4ZP-11A-12D-A25V-10 g.chrX:48814825A>G c.8T>C c.(7-9)aTa>aCa p.I3T LUAD 23 48780529 48780529 + Silent SNP C C A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 g.chrX:48780529C>A c.1638G>T c.(1636-1638)ctG>ctT p.L546L LUAD 23 48781242 48781242 + Missense_Mutation SNP G G C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chrX:48781242G>C c.1366C>G c.(1366-1368)Cgg>Ggg p.R456G LUAD 23 48781242 48781242 + Silent SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 g.chrX:48781242G>T c.1366C>A c.(1366-1368)Cgg>Agg p.R456R LUAD 23 48783166 48783166 + Missense_Mutation SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chrX:48783166C>A c.1235G>T c.(1234-1236)cGg>cTg p.R412L LUAD 23 48791832 48791832 + Missense_Mutation SNP C C A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 g.chrX:48791832C>A c.979G>T c.(979-981)Gtt>Ttt p.V327F LUSC 23 48801472 48801472 + Missense_Mutation SNP C C T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chrX:48801472C>T c.667G>A c.(667-669)Gcc>Acc p.A223T PRAD 23 48792092 48792092 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chrX:48792092T>C c.802A>G c.(802-804)Acc>Gcc p.T268A SKCM 23 48780999 48780999 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chrX:48780999C>T c.1505G>A c.(1504-1506)gGg>gAg p.G502E SKCM 23 48791869 48791869 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chrX:48791869G>A c.942C>T c.(940-942)ttC>ttT p.F314F

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 X 48775075 48775075 single base substitution G A downstream_gene_variant BLCA-US X 48780496 48780496 single base substitution C T downstream_gene_variant BLCA-US X 48780496 48780496 single base substitution C T missense_variant M335I 1005G>A BLCA-US X 48780496 48780496 single base substitution C T missense_variant M430I 1290G>A BLCA-US X 48780496 48780496 single base substitution C T missense_variant M552I 1656G>A BLCA-US X 48780496 48780496 single base substitution C T missense_variant M557I 1671G>A BRCA-EU X 48775117 48775117 single base substitution G A downstream_gene_variant BRCA-EU X 48777143 48777143 single base substitution G A downstream_gene_variant BRCA-EU X 48777163 48777163 single base substitution G A downstream_gene_variant BRCA-EU X 48777178 48777178 single base substitution C G downstream_gene_variant BRCA-EU X 48777231 48777231 single base substitution C T downstream_gene_variant BRCA-EU X 48779172 48779172 single base substitution T C downstream_gene_variant BRCA-EU X 48779240 48779242 deletion of <=200bp CAC - downstream_gene_variant BRCA-EU X 48779635 48779635 single base substitution G A 3_prime_UTR_variant BRCA-EU X 48779635 48779635 single base substitution G A downstream_gene_variant BRCA-EU X 48780831 48780831 single base substitution C T downstream_gene_variant BRCA-EU X 48780831 48780831 single base substitution C T intron_variant BRCA-EU X 48781083 48781083 single base substitution G T downstream_gene_variant BRCA-EU X 48781083 48781083 single base substitution G T intron_variant BRCA-EU X 48782833 48782833 single base substitution G T downstream_gene_variant BRCA-EU X 48782833 48782833 single base substitution G T intron_variant BRCA-EU X 48783254 48783254 single base substitution C G exon_variant BRCA-EU X 48783254 48783254 single base substitution C G missense_variant E161Q 481G>C BRCA-EU X 48783254 48783254 single base substitution C G missense_variant E256Q 766G>C BRCA-EU X 48783254 48783254 single base substitution C G missense_variant E378Q 1132G>C BRCA-EU X 48783254 48783254 single base substitution C G missense_variant E383Q 1147G>C BRCA-EU X 48784371 48784371 single base substitution G C intron_variant BRCA-EU X 48784502 48784502 single base substitution C T intron_variant BRCA-EU X 48785077 48785077 single base substitution G A intron_variant BRCA-EU X 48786507 48786507 single base substitution C A intron_variant BRCA-EU X 48786955 48786955 single base substitution G A downstream_gene_variant BRCA-EU X 48786955 48786955 single base substitution G A intron_variant BRCA-EU X 48788484 48788503 deletion of <=200bp CACTACTTCTGCCAGTTGAT - downstream_gene_variant BRCA-EU X 48788484 48788503 deletion of <=200bp CACTACTTCTGCCAGTTGAT - intron_variant BRCA-EU X 48789152 48789152 single base substitution C T downstream_gene_variant BRCA-EU X 48789152 48789152 single base substitution C T intron_variant BRCA-EU X 48794931 48794931 single base substitution C G intron_variant BRCA-EU X 48794931 48794931 single base substitution C G upstream_gene_variant BRCA-EU X 48795310 48795310 single base substitution G A intron_variant BRCA-EU X 48795310 48795310 single base substitution G A upstream_gene_variant BRCA-EU X 48797111 48797111 single base substitution A T intron_variant BRCA-EU X 48797111 48797111 single base substitution A T upstream_gene_variant BRCA-EU X 48797891 48797891 single base substitution G A intron_variant BRCA-EU X 48797891 48797891 single base substitution G A upstream_gene_variant BRCA-EU X 48799839 48799839 single base substitution C T intron_variant BRCA-EU X 48801390 48801390 single base substitution G T intron_variant BRCA-EU X 48802143 48802143 single base substitution C A intron_variant BRCA-EU X 48802249 48802249 single base substitution G A intron_variant BRCA-EU X 48802642 48802642 single base substitution T C intron_variant BRCA-EU X 48803337 48803337 single base substitution G C intron_variant BRCA-EU X 48803698 48803698 single base substitution G A intron_variant BRCA-EU X 48804645 48804645 insertion of <=200bp - A intron_variant BRCA-EU X 48805164 48805164 single base substitution G A intron_variant BRCA-EU X 48805328 48805328 single base substitution C T intron_variant BRCA-EU X 48806118 48806156 deletion of <=200bp CACAAAAAGGCTGAGTAAAGCTCCCTAACACCAGAGGAT - intron_variant BRCA-EU X 48806537 48806537 single base substitution G A intron_variant BRCA-EU X 48806833 48806833 single base substitution G A intron_variant BRCA-EU X 48807191 48807191 single base substitution C T intron_variant BRCA-EU X 48809186 48809186 single base substitution G C intron_variant BRCA-EU X 48809663 48809663 single base substitution C G intron_variant BRCA-EU X 48809905 48809905 single base substitution C T intron_variant BRCA-EU X 48812336 48812336 single base substitution C A intron_variant BRCA-EU X 48812543 48812543 single base substitution C T intron_variant BRCA-EU X 48813624 48813624 single base substitution C G intron_variant BRCA-EU X 48814087 48814087 single base substitution T A intron_variant BRCA-EU X 48814158 48814158 single base substitution C G intron_variant BRCA-EU X 48814936 48814936 single base substitution G A intron_variant BRCA-EU X 48814936 48814936 single base substitution G A upstream_gene_variant BRCA-EU X 48814988 48814988 insertion of <=200bp - GGC intron_variant BRCA-EU X 48814988 48814988 insertion of <=200bp - GGC upstream_gene_variant BRCA-EU X 48818007 48818007 single base substitution G T upstream_gene_variant BRCA-EU X 48819448 48819448 single base substitution A C upstream_gene_variant BRCA-EU X 48820248 48820248 single base substitution T A upstream_gene_variant BRCA-EU X 48820384 48820384 single base substitution G A upstream_gene_variant BRCA-FR X 48777231 48777231 single base substitution C T downstream_gene_variant BRCA-FR X 48779635 48779635 single base substitution G A 3_prime_UTR_variant BRCA-FR X 48779635 48779635 single base substitution G A downstream_gene_variant BRCA-FR X 48795310 48795310 single base substitution G A intron_variant BRCA-FR X 48795310 48795310 single base substitution G A upstream_gene_variant BRCA-FR X 48803126 48803126 single base substitution A G intron_variant BRCA-FR X 48814642 48814642 single base substitution G A intron_variant BRCA-FR X 48814642 48814642 single base substitution G A missense_variant S64L 191C>T BRCA-FR X 48814642 48814642 single base substitution G A upstream_gene_variant BRCA-FR X 48816773 48816773 single base substitution T G upstream_gene_variant BRCA-KR X 48780405 48780405 single base substitution C A 3_prime_UTR_variant BRCA-KR X 48780405 48780405 single base substitution C A downstream_gene_variant BRCA-KR X 48780405 48780405 single base substitution C A intron_variant BRCA-UK X 48802143 48802143 single base substitution C A intron_variant BRCA-UK X 48802249 48802249 single base substitution G A intron_variant BRCA-UK X 48802773 48802773 single base substitution A C intron_variant BRCA-UK X 48803698 48803698 single base substitution G A intron_variant BRCA-US X 48775085 48775085 single base substitution C G downstream_gene_variant BRCA-US X 48780995 48780995 single base substitution G A downstream_gene_variant BRCA-US X 48780995 48780995 single base substitution G A synonymous_variant A281A 843C>T BRCA-US X 48780995 48780995 single base substitution G A synonymous_variant A376A 1128C>T BRCA-US X 48780995 48780995 single base substitution G A synonymous_variant A498A 1494C>T BRCA-US X 48780995 48780995 single base substitution G A synonymous_variant A503A 1509C>T BTCA-JP X 48781005 48781005 single base substitution G A downstream_gene_variant BTCA-JP X 48781005 48781005 single base substitution G A missense_variant S278L 833C>T BTCA-JP X 48781005 48781005 single base substitution G A missense_variant S373L 1118C>T BTCA-JP X 48781005 48781005 single base substitution G A missense_variant S495L 1484C>T BTCA-JP X 48781005 48781005 single base substitution G A missense_variant S500L 1499C>T BTCA-JP X 48814557 48814557 single base substitution A C intron_variant BTCA-JP X 48814557 48814557 single base substitution A C synonymous_variant G92G 276T>G BTCA-JP X 48814557 48814557 single base substitution A C upstream_gene_variant CESC-US X 48781175 48781175 single base substitution G T downstream_gene_variant CESC-US X 48781175 48781175 single base substitution G T missense_variant P256Q 767C>A CESC-US X 48781175 48781175 single base substitution G T missense_variant P351Q 1052C>A CESC-US X 48781175 48781175 single base substitution G T missense_variant P473Q 1418C>A CESC-US X 48781175 48781175 single base substitution G T missense_variant P478Q 1433C>A CESC-US X 48792055 48792055 single base substitution C T exon_variant CESC-US X 48792055 48792055 single base substitution C T missense_variant G153D 458G>A CESC-US X 48792055 48792055 single base substitution C T missense_variant G280D 839G>A CESC-US X 48792055 48792055 single base substitution C T missense_variant G63D 188G>A CESC-US X 48792259 48792259 single base substitution C T exon_variant CESC-US X 48792259 48792259 single base substitution C T missense_variant E114K 340G>A CESC-US X 48792259 48792259 single base substitution C T missense_variant E241K 721G>A CESC-US X 48792259 48792259 single base substitution C T missense_variant E24K 70G>A CESC-US X 48801543 48801543 single base substitution T C missense_variant Q199R 596A>G CESC-US X 48801543 48801543 single base substitution T C missense_variant Q72R 215A>G CESC-US X 48801543 48801543 single base substitution T C splice_region_variant CLLE-ES X 48775948 48775948 single base substitution A T downstream_gene_variant CLLE-ES X 48805362 48805362 single base substitution C T intron_variant CLLE-ES X 48813995 48813995 single base substitution G A intron_variant COAD-US X 48776079 48776079 single base substitution C T downstream_gene_variant COAD-US X 48780945 48780945 single base substitution C T downstream_gene_variant COAD-US X 48780945 48780945 single base substitution C T missense_variant R298Q 893G>A COAD-US X 48780945 48780945 single base substitution C T missense_variant R393Q 1178G>A COAD-US X 48780945 48780945 single base substitution C T missense_variant R515Q 1544G>A COAD-US X 48780945 48780945 single base substitution C T missense_variant R520Q 1559G>A COAD-US X 48781142 48781142 single base substitution G A downstream_gene_variant COAD-US X 48781142 48781142 single base substitution G A missense_variant S267L 800C>T COAD-US X 48781142 48781142 single base substitution G A missense_variant S362L 1085C>T COAD-US X 48781142 48781142 single base substitution G A missense_variant S484L 1451C>T COAD-US X 48781142 48781142 single base substitution G A missense_variant S489L 1466C>T COAD-US X 48791845 48791845 single base substitution G A downstream_gene_variant COAD-US X 48791845 48791845 single base substitution G A exon_variant COAD-US X 48791845 48791845 single base substitution G A synonymous_variant D100D 300C>T COAD-US X 48791845 48791845 single base substitution G A synonymous_variant D195D 585C>T COAD-US X 48791845 48791845 single base substitution G A synonymous_variant D317D 951C>T COAD-US X 48791845 48791845 single base substitution G A synonymous_variant D322D 966C>T COAD-US X 48814355 48814355 single base substitution C T intron_variant COAD-US X 48814355 48814355 single base substitution C T missense_variant A160T 478G>A COAD-US X 48814355 48814355 single base substitution C T missense_variant A33T 97G>A COAD-US X 48814355 48814355 single base substitution C T upstream_gene_variant COAD-US X 48814767 48814767 single base substitution C T intron_variant COAD-US X 48814767 48814767 single base substitution C T synonymous_variant P22P 66G>A COAD-US X 48814767 48814767 single base substitution C T upstream_gene_variant COAD-US X 48814770 48814770 single base substitution C T intron_variant COAD-US X 48814770 48814770 single base substitution C T synonymous_variant P21P 63G>A COAD-US X 48814770 48814770 single base substitution C T upstream_gene_variant COAD-US X 48814791 48814791 single base substitution G A intron_variant COAD-US X 48814791 48814791 single base substitution G A synonymous_variant A14A 42C>T COAD-US X 48814791 48814791 single base substitution G A upstream_gene_variant COAD-US X 48819916 48819916 single base substitution C T upstream_gene_variant COAD-US X 48820019 48820019 single base substitution G A upstream_gene_variant COCA-CN X 48792055 48792055 single base substitution C T exon_variant COCA-CN X 48792055 48792055 single base substitution C T missense_variant G153D 458G>A COCA-CN X 48792055 48792055 single base substitution C T missense_variant G280D 839G>A COCA-CN X 48792055 48792055 single base substitution C T missense_variant G63D 188G>A COCA-CN X 48801506 48801506 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN X 48801506 48801506 single base substitution C A exon_variant COCA-CN X 48801506 48801506 single base substitution C A missense_variant K211N 633G>T COCA-CN X 48801506 48801506 single base substitution C A missense_variant K84N 252G>T COCA-CN X 48814319 48814319 single base substitution C T intron_variant COCA-CN X 48814319 48814319 single base substitution C T missense_variant G172S 514G>A COCA-CN X 48814319 48814319 single base substitution C T missense_variant G45S 133G>A COCA-CN X 48814319 48814319 single base substitution C T upstream_gene_variant ESCA-CN X 48775911 48775911 single base substitution G A downstream_gene_variant ESCA-CN X 48819982 48819982 single base substitution G A upstream_gene_variant GBM-US X 48775821 48775821 single base substitution G A downstream_gene_variant GBM-US X 48814296 48814296 single base substitution G A exon_variant GBM-US X 48814296 48814296 single base substitution G A intron_variant GBM-US X 48814296 48814296 single base substitution G A synonymous_variant D179D 537C>T GBM-US X 48814296 48814296 single base substitution G A synonymous_variant D52D 156C>T GBM-US X 48814319 48814319 single base substitution C T intron_variant GBM-US X 48814319 48814319 single base substitution C T missense_variant G172S 514G>A GBM-US X 48814319 48814319 single base substitution C T missense_variant G45S 133G>A GBM-US X 48814319 48814319 single base substitution C T upstream_gene_variant GBM-US X 48819889 48819889 single base substitution C T upstream_gene_variant LGG-US X 48791845 48791845 single base substitution G A downstream_gene_variant LGG-US X 48791845 48791845 single base substitution G A exon_variant LGG-US X 48791845 48791845 single base substitution G A synonymous_variant D100D 300C>T LGG-US X 48791845 48791845 single base substitution G A synonymous_variant D195D 585C>T LGG-US X 48791845 48791845 single base substitution G A synonymous_variant D317D 951C>T LGG-US X 48791845 48791845 single base substitution G A synonymous_variant D322D 966C>T LICA-FR X 48783156 48783156 single base substitution C T downstream_gene_variant LICA-FR X 48783156 48783156 single base substitution C T synonymous_variant E193E 579G>A LICA-FR X 48783156 48783156 single base substitution C T synonymous_variant E288E 864G>A LICA-FR X 48783156 48783156 single base substitution C T synonymous_variant E410E 1230G>A LICA-FR X 48783156 48783156 single base substitution C T synonymous_variant E415E 1245G>A LICA-FR X 48783309 48783309 single base substitution C T exon_variant LICA-FR X 48783309 48783309 single base substitution C T synonymous_variant L142L 426G>A LICA-FR X 48783309 48783309 single base substitution C T synonymous_variant L237L 711G>A LICA-FR X 48783309 48783309 single base substitution C T synonymous_variant L359L 1077G>A LICA-FR X 48783309 48783309 single base substitution C T synonymous_variant L364L 1092G>A LICA-FR X 48790690 48790690 insertion of <=200bp - T downstream_gene_variant LICA-FR X 48790690 48790690 insertion of <=200bp - T intron_variant LICA-FR X 48797439 48797439 single base substitution T C intron_variant LICA-FR X 48797439 48797439 single base substitution T C upstream_gene_variant LICA-FR X 48800595 48800595 single base substitution T C intron_variant LICA-FR X 48803072 48803072 single base substitution A C intron_variant LICA-FR X 48808130 48808130 single base substitution T A intron_variant LIHC-US X 48814825 48814825 single base substitution A G intron_variant LIHC-US X 48814825 48814825 single base substitution A G missense_variant I3T 8T>C LIHC-US X 48814825 48814825 single base substitution A G upstream_gene_variant LINC-JP X 48779399 48779399 single base substitution C T 3_prime_UTR_variant LINC-JP X 48779399 48779399 single base substitution C T downstream_gene_variant LINC-JP X 48783380 48783380 single base substitution G A intron_variant LINC-JP X 48791611 48791611 deletion of <=200bp G - downstream_gene_variant LINC-JP X 48791611 48791611 deletion of <=200bp G - intron_variant LINC-JP X 48791697 48791697 single base substitution C T downstream_gene_variant LINC-JP X 48791697 48791697 single base substitution C T intron_variant LINC-JP X 48792067 48792067 deletion of <=200bp T - exon_variant LINC-JP X 48792067 48792067 deletion of <=200bp T - frameshift_variant N149 LINC-JP X 48792067 48792067 deletion of <=200bp T - frameshift_variant N276 LINC-JP X 48792067 48792067 deletion of <=200bp T - frameshift_variant N59 LINC-JP X 48792249 48792249 single base substitution C T exon_variant LINC-JP X 48792249 48792249 single base substitution C T missense_variant R117Q 350G>A LINC-JP X 48792249 48792249 single base substitution C T missense_variant R244Q 731G>A LINC-JP X 48792249 48792249 single base substitution C T missense_variant R27Q 80G>A LINC-JP X 48793233 48793233 single base substitution G A intron_variant LINC-JP X 48801533 48801533 single base substitution C T 5_prime_UTR_variant LINC-JP X 48801533 48801533 single base substitution C T exon_variant LINC-JP X 48801533 48801533 single base substitution C T stop_gained W202* 606G>A LINC-JP X 48801533 48801533 single base substitution C T stop_gained W75* 225G>A LINC-JP X 48814996 48814996 single base substitution C A intron_variant LINC-JP X 48814996 48814996 single base substitution C A upstream_gene_variant LINC-JP X 48820113 48820113 single base substitution T C upstream_gene_variant LIRI-JP X 48776931 48776931 single base substitution G A downstream_gene_variant LIRI-JP X 48781965 48781965 single base substitution C A downstream_gene_variant LIRI-JP X 48781965 48781965 single base substitution C A intron_variant LIRI-JP X 48784282 48784282 single base substitution T C intron_variant LIRI-JP X 48788382 48788382 single base substitution T C downstream_gene_variant LIRI-JP X 48788382 48788382 single base substitution T C intron_variant LIRI-JP X 48789554 48789554 single base substitution G A downstream_gene_variant LIRI-JP X 48789554 48789554 single base substitution G A intron_variant LIRI-JP X 48790655 48790655 single base substitution C T downstream_gene_variant LIRI-JP X 48790655 48790655 single base substitution C T intron_variant LIRI-JP X 48792624 48792624 single base substitution C T intron_variant LIRI-JP X 48794938 48794938 single base substitution A C intron_variant LIRI-JP X 48794938 48794938 single base substitution A C upstream_gene_variant LIRI-JP X 48797690 48797690 single base substitution G A intron_variant LIRI-JP X 48797690 48797690 single base substitution G A upstream_gene_variant LIRI-JP X 48797691 48797691 single base substitution C T intron_variant LIRI-JP X 48797691 48797691 single base substitution C T upstream_gene_variant LIRI-JP X 48799654 48799654 deletion of <=200bp T - intron_variant LIRI-JP X 48801312 48801312 single base substitution T C intron_variant LIRI-JP X 48802971 48802971 single base substitution C G intron_variant LIRI-JP X 48809037 48809037 single base substitution G C intron_variant LIRI-JP X 48809476 48809476 single base substitution T C intron_variant LIRI-JP X 48810979 48810979 single base substitution C T intron_variant LIRI-JP X 48812603 48812603 single base substitution C T intron_variant LIRI-JP X 48813788 48813788 single base substitution C T intron_variant LIRI-JP X 48817051 48817051 single base substitution G A upstream_gene_variant LIRI-JP X 48819702 48819702 single base substitution C A upstream_gene_variant LUSC-KR X 48775127 48775127 single base substitution A T downstream_gene_variant LUSC-KR X 48780213 48780213 single base substitution G A 3_prime_UTR_variant LUSC-KR X 48780213 48780213 single base substitution G A downstream_gene_variant LUSC-KR X 48780213 48780213 single base substitution G A intron_variant LUSC-KR X 48790611 48790611 single base substitution T A downstream_gene_variant LUSC-KR X 48790611 48790611 single base substitution T A intron_variant LUSC-KR X 48804547 48804547 single base substitution A G intron_variant LUSC-KR X 48809161 48809161 single base substitution C T intron_variant LUSC-KR X 48820062 48820062 single base substitution G C upstream_gene_variant LUSC-US X 48775872 48775872 single base substitution G T downstream_gene_variant LUSC-US X 48775922 48775922 single base substitution C A downstream_gene_variant LUSC-US X 48801472 48801472 single base substitution C T exon_variant LUSC-US X 48801472 48801472 single base substitution C T missense_variant A223T 667G>A LUSC-US X 48801472 48801472 single base substitution C T missense_variant A6T 16G>A LUSC-US X 48801472 48801472 single base substitution C T missense_variant A96T 286G>A MALY-DE X 48774560 48774560 single base substitution C T downstream_gene_variant MALY-DE X 48774672 48774672 single base substitution G C downstream_gene_variant MALY-DE X 48774807 48774807 single base substitution G C downstream_gene_variant MALY-DE X 48774832 48774832 single base substitution C T downstream_gene_variant MALY-DE X 48774899 48774899 single base substitution G A downstream_gene_variant MALY-DE X 48774920 48774920 single base substitution C T downstream_gene_variant MALY-DE X 48774921 48774921 single base substitution C T downstream_gene_variant MALY-DE X 48774947 48774947 single base substitution G A downstream_gene_variant MALY-DE X 48775050 48775050 single base substitution G A downstream_gene_variant MALY-DE X 48775100 48775100 single base substitution G A downstream_gene_variant MALY-DE X 48775164 48775164 single base substitution G A downstream_gene_variant MALY-DE X 48775182 48775182 single base substitution C T downstream_gene_variant MALY-DE X 48775183 48775183 single base substitution C T downstream_gene_variant MALY-DE X 48775188 48775188 single base substitution G A downstream_gene_variant MALY-DE X 48775200 48775200 single base substitution C G downstream_gene_variant MALY-DE X 48775214 48775214 single base substitution G A downstream_gene_variant MALY-DE X 48775216 48775216 deletion of <=200bp C - downstream_gene_variant MALY-DE X 48775250 48775250 single base substitution G A downstream_gene_variant MALY-DE X 48775334 48775334 single base substitution C T downstream_gene_variant MALY-DE X 48775379 48775379 single base substitution C T downstream_gene_variant MALY-DE X 48775401 48775401 single base substitution C G downstream_gene_variant MALY-DE X 48775447 48775447 single base substitution G A downstream_gene_variant MALY-DE X 48775451 48775451 single base substitution G A downstream_gene_variant MALY-DE X 48775487 48775487 single base substitution C T downstream_gene_variant MALY-DE X 48775531 48775531 single base substitution G C downstream_gene_variant MALY-DE X 48775605 48775605 single base substitution C T downstream_gene_variant MALY-DE X 48775606 48775606 single base substitution C T downstream_gene_variant MALY-DE X 48775674 48775674 single base substitution G A downstream_gene_variant MALY-DE X 48775675 48775675 single base substitution G A downstream_gene_variant MALY-DE X 48775723 48775723 single base substitution G A downstream_gene_variant MALY-DE X 48775749 48775749 single base substitution C A downstream_gene_variant MALY-DE X 48775853 48775853 single base substitution C A downstream_gene_variant MALY-DE X 48775872 48775872 single base substitution G A downstream_gene_variant MALY-DE X 48775872 48775872 single base substitution G T downstream_gene_variant MALY-DE X 48775904 48775904 single base substitution G C downstream_gene_variant MALY-DE X 48775934 48775934 single base substitution G C downstream_gene_variant MALY-DE X 48775941 48775941 single base substitution G C downstream_gene_variant MALY-DE X 48775942 48775942 single base substitution G A downstream_gene_variant MALY-DE X 48775949 48775949 single base substitution G A downstream_gene_variant MALY-DE X 48775985 48775985 single base substitution C T downstream_gene_variant MALY-DE X 48775995 48775995 single base substitution G A downstream_gene_variant MALY-DE X 48775996 48776000 deletion of <=200bp CAACC - downstream_gene_variant MALY-DE X 48776000 48776000 single base substitution C T downstream_gene_variant MALY-DE X 48776000 48776007 deletion of <=200bp CCATCATT - downstream_gene_variant MALY-DE X 48776005 48776005 single base substitution A G downstream_gene_variant MALY-DE X 48776008 48776008 single base substitution C T downstream_gene_variant MALY-DE X 48776012 48776012 single base substitution C T downstream_gene_variant MALY-DE X 48776013 48776013 single base substitution C T downstream_gene_variant MALY-DE X 48776014 48776014 single base substitution C T downstream_gene_variant MALY-DE X 48776040 48776040 single base substitution G C downstream_gene_variant MALY-DE X 48776046 48776046 single base substitution C G downstream_gene_variant MALY-DE X 48776046 48776046 single base substitution C T downstream_gene_variant MALY-DE X 48776099 48776099 single base substitution G A downstream_gene_variant MALY-DE X 48776148 48776148 single base substitution G C downstream_gene_variant MALY-DE X 48776185 48776185 single base substitution G A downstream_gene_variant MALY-DE X 48776186 48776186 single base substitution C T downstream_gene_variant MALY-DE X 48776217 48776217 single base substitution G A downstream_gene_variant MALY-DE X 48776956 48776956 single base substitution C T downstream_gene_variant MALY-DE X 48776958 48776958 single base substitution C T downstream_gene_variant MALY-DE X 48781126 48781126 single base substitution A C downstream_gene_variant MALY-DE X 48781126 48781126 single base substitution A C splice_donor_variant MALY-DE X 48781166 48781166 single base substitution A C downstream_gene_variant MALY-DE X 48781166 48781166 single base substitution A C missense_variant V259G 776T>G MALY-DE X 48781166 48781166 single base substitution A C missense_variant V354G 1061T>G MALY-DE X 48781166 48781166 single base substitution A C missense_variant V476G 1427T>G MALY-DE X 48781166 48781166 single base substitution A C missense_variant V481G 1442T>G MALY-DE X 48784106 48784106 single base substitution G A intron_variant MALY-DE X 48790065 48790065 single base substitution A T downstream_gene_variant MALY-DE X 48790065 48790065 single base substitution A T intron_variant MALY-DE X 48791694 48791694 single base substitution C T downstream_gene_variant MALY-DE X 48791694 48791694 single base substitution C T intron_variant MALY-DE X 48794902 48794902 single base substitution G C intron_variant MALY-DE X 48794902 48794902 single base substitution G C upstream_gene_variant MALY-DE X 48795105 48795105 single base substitution C G intron_variant MALY-DE X 48795105 48795105 single base substitution C G upstream_gene_variant MALY-DE X 48799379 48799380 deletion of <=200bp AC - intron_variant MALY-DE X 48806027 48806027 single base substitution A C intron_variant MALY-DE X 48810470 48810470 single base substitution C T intron_variant MALY-DE X 48810480 48810480 single base substitution G T intron_variant MALY-DE X 48812253 48812253 single base substitution C T intron_variant MALY-DE X 48813573 48813574 deletion of <=200bp GT - intron_variant MALY-DE X 48814298 48814298 single base substitution C A exon_variant MALY-DE X 48814298 48814298 single base substitution C A intron_variant MALY-DE X 48814298 48814298 single base substitution C A missense_variant D179Y 535G>T MALY-DE X 48814298 48814298 single base substitution C A missense_variant D52Y 154G>T MELA-AU X 48774672 48774672 single base substitution G A downstream_gene_variant MELA-AU X 48774674 48774674 single base substitution G A downstream_gene_variant MELA-AU X 48774685 48774685 single base substitution G A downstream_gene_variant MELA-AU X 48774984 48774985 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU X 48775065 48775065 single base substitution G A downstream_gene_variant MELA-AU X 48775981 48775981 single base substitution C T downstream_gene_variant MELA-AU X 48777005 48777005 single base substitution C T downstream_gene_variant MELA-AU X 48777788 48777788 single base substitution C T downstream_gene_variant MELA-AU X 48777994 48777994 single base substitution G A downstream_gene_variant MELA-AU X 48779173 48779173 single base substitution G A downstream_gene_variant MELA-AU X 48781035 48781035 single base substitution G A downstream_gene_variant MELA-AU X 48781035 48781035 single base substitution G A intron_variant MELA-AU X 48781358 48781358 single base substitution G A downstream_gene_variant MELA-AU X 48781358 48781358 single base substitution G A intron_variant MELA-AU X 48781900 48781900 single base substitution C T downstream_gene_variant MELA-AU X 48781900 48781900 single base substitution C T intron_variant MELA-AU X 48783664 48783664 single base substitution C T intron_variant MELA-AU X 48784742 48784742 single base substitution G A intron_variant MELA-AU X 48785076 48785077 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 48785078 48785078 single base substitution G A intron_variant MELA-AU X 48785106 48785106 single base substitution C T intron_variant MELA-AU X 48785212 48785212 single base substitution T C intron_variant MELA-AU X 48785343 48785343 single base substitution G A intron_variant MELA-AU X 48785422 48785422 single base substitution G A intron_variant MELA-AU X 48785516 48785516 single base substitution C T intron_variant MELA-AU X 48785805 48785806 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 48785842 48785842 single base substitution C T intron_variant MELA-AU X 48786245 48786245 single base substitution G A intron_variant MELA-AU X 48786461 48786461 single base substitution C T intron_variant MELA-AU X 48787604 48787604 single base substitution G A downstream_gene_variant MELA-AU X 48787604 48787604 single base substitution G A intron_variant MELA-AU X 48787821 48787821 single base substitution C T downstream_gene_variant MELA-AU X 48787821 48787821 single base substitution C T intron_variant MELA-AU X 48787899 48787899 single base substitution T A downstream_gene_variant MELA-AU X 48787899 48787899 single base substitution T A intron_variant MELA-AU X 48788440 48788440 single base substitution G A downstream_gene_variant MELA-AU X 48788440 48788440 single base substitution G A intron_variant MELA-AU X 48788946 48788946 single base substitution T C downstream_gene_variant MELA-AU X 48788946 48788946 single base substitution T C intron_variant MELA-AU X 48788954 48788954 single base substitution C T downstream_gene_variant MELA-AU X 48788954 48788954 single base substitution C T intron_variant MELA-AU X 48788984 48788984 single base substitution G A downstream_gene_variant MELA-AU X 48788984 48788984 single base substitution G A intron_variant MELA-AU X 48789199 48789199 single base substitution G A downstream_gene_variant MELA-AU X 48789199 48789199 single base substitution G A intron_variant MELA-AU X 48789696 48789696 single base substitution C T downstream_gene_variant MELA-AU X 48789696 48789696 single base substitution C T intron_variant MELA-AU X 48790156 48790156 single base substitution G A downstream_gene_variant MELA-AU X 48790156 48790156 single base substitution G A intron_variant MELA-AU X 48790371 48790371 single base substitution T A downstream_gene_variant MELA-AU X 48790371 48790371 single base substitution T A intron_variant MELA-AU X 48790667 48790667 single base substitution G A downstream_gene_variant MELA-AU X 48790667 48790667 single base substitution G A intron_variant MELA-AU X 48791913 48791913 single base substitution C T exon_variant MELA-AU X 48791913 48791913 single base substitution C T intron_variant MELA-AU X 48792469 48792469 single base substitution G A intron_variant MELA-AU X 48792923 48792923 single base substitution G A intron_variant MELA-AU X 48793262 48793262 single base substitution G A intron_variant MELA-AU X 48793351 48793351 single base substitution G A intron_variant MELA-AU X 48793569 48793569 single base substitution G A exon_variant MELA-AU X 48793569 48793569 single base substitution G A intron_variant MELA-AU X 48794718 48794718 single base substitution G A intron_variant MELA-AU X 48794718 48794718 single base substitution G A upstream_gene_variant MELA-AU X 48795675 48795675 single base substitution C T intron_variant MELA-AU X 48795675 48795675 single base substitution C T upstream_gene_variant MELA-AU X 48795898 48795898 single base substitution G A intron_variant MELA-AU X 48795898 48795898 single base substitution G A upstream_gene_variant MELA-AU X 48796557 48796557 single base substitution C T intron_variant MELA-AU X 48796557 48796557 single base substitution C T upstream_gene_variant MELA-AU X 48797484 48797484 single base substitution T C intron_variant MELA-AU X 48797484 48797484 single base substitution T C upstream_gene_variant MELA-AU X 48798149 48798149 single base substitution C T intron_variant MELA-AU X 48798149 48798149 single base substitution C T upstream_gene_variant MELA-AU X 48798183 48798183 single base substitution G A intron_variant MELA-AU X 48798183 48798183 single base substitution G A upstream_gene_variant MELA-AU X 48798247 48798248 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 48798247 48798248 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 48798870 48798870 single base substitution C G intron_variant MELA-AU X 48799053 48799053 single base substitution G A intron_variant MELA-AU X 48799077 48799077 single base substitution G A intron_variant MELA-AU X 48799541 48799541 single base substitution C G intron_variant MELA-AU X 48802006 48802006 single base substitution G A intron_variant MELA-AU X 48802336 48802336 single base substitution T C intron_variant MELA-AU X 48802757 48802757 single base substitution C T intron_variant MELA-AU X 48803203 48803203 single base substitution C T intron_variant MELA-AU X 48803366 48803366 single base substitution C T intron_variant MELA-AU X 48803373 48803373 single base substitution T C intron_variant MELA-AU X 48803713 48803713 single base substitution G A intron_variant MELA-AU X 48803819 48803819 single base substitution C T intron_variant MELA-AU X 48805041 48805041 single base substitution G A intron_variant MELA-AU X 48805187 48805187 single base substitution G A intron_variant MELA-AU X 48806555 48806555 single base substitution C T intron_variant MELA-AU X 48806567 48806567 single base substitution G A intron_variant MELA-AU X 48811116 48811116 single base substitution C T intron_variant MELA-AU X 48811146 48811146 single base substitution C A intron_variant MELA-AU X 48811558 48811558 single base substitution G A intron_variant MELA-AU X 48811989 48811989 single base substitution G A intron_variant MELA-AU X 48812535 48812535 single base substitution G A intron_variant MELA-AU X 48812683 48812684 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 48812981 48812981 single base substitution G A intron_variant MELA-AU X 48813271 48813271 single base substitution G A intron_variant MELA-AU X 48813335 48813335 single base substitution C T intron_variant MELA-AU X 48813847 48813847 single base substitution G A intron_variant MELA-AU X 48813913 48813913 single base substitution G A intron_variant MELA-AU X 48815179 48815179 single base substitution C T intron_variant MELA-AU X 48815179 48815179 single base substitution C T upstream_gene_variant MELA-AU X 48815245 48815245 single base substitution G A intron_variant MELA-AU X 48815245 48815245 single base substitution G A upstream_gene_variant MELA-AU X 48815675 48815675 single base substitution C T upstream_gene_variant MELA-AU X 48815676 48815676 single base substitution C T upstream_gene_variant MELA-AU X 48815684 48815684 single base substitution G A upstream_gene_variant MELA-AU X 48815795 48815795 single base substitution G A upstream_gene_variant MELA-AU X 48815858 48815858 single base substitution T A upstream_gene_variant MELA-AU X 48816142 48816142 single base substitution C G upstream_gene_variant MELA-AU X 48816983 48816983 single base substitution C T upstream_gene_variant MELA-AU X 48817636 48817636 single base substitution C T upstream_gene_variant MELA-AU X 48818142 48818142 single base substitution C T upstream_gene_variant MELA-AU X 48818314 48818314 single base substitution G A upstream_gene_variant MELA-AU X 48818594 48818594 single base substitution C T upstream_gene_variant MELA-AU X 48818749 48818749 single base substitution C T upstream_gene_variant MELA-AU X 48818796 48818796 single base substitution G A upstream_gene_variant MELA-AU X 48819457 48819457 single base substitution G A upstream_gene_variant MELA-AU X 48819937 48819937 single base substitution G A upstream_gene_variant MELA-AU X 48820004 48820004 single base substitution G A upstream_gene_variant MELA-AU X 48820219 48820219 single base substitution G A upstream_gene_variant MELA-AU X 48820458 48820458 single base substitution C G upstream_gene_variant MELA-AU X 48820499 48820499 single base substitution G A upstream_gene_variant ORCA-IN X 48776357 48776357 single base substitution T A downstream_gene_variant ORCA-IN X 48780655 48780655 single base substitution C A downstream_gene_variant ORCA-IN X 48780655 48780655 single base substitution C A intron_variant ORCA-IN X 48781530 48781530 single base substitution C T downstream_gene_variant ORCA-IN X 48781530 48781530 single base substitution C T intron_variant ORCA-IN X 48782034 48782034 single base substitution C T downstream_gene_variant ORCA-IN X 48782034 48782034 single base substitution C T intron_variant ORCA-IN X 48784608 48784608 single base substitution G A intron_variant ORCA-IN X 48795855 48795855 single base substitution T C intron_variant ORCA-IN X 48795855 48795855 single base substitution T C upstream_gene_variant ORCA-IN X 48797561 48797561 single base substitution G A intron_variant ORCA-IN X 48797561 48797561 single base substitution G A upstream_gene_variant ORCA-IN X 48798635 48798635 single base substitution G C intron_variant OV-AU X 48782508 48782508 single base substitution C T downstream_gene_variant OV-AU X 48782508 48782508 single base substitution C T intron_variant OV-AU X 48787315 48787315 single base substitution G A downstream_gene_variant OV-AU X 48787315 48787315 single base substitution G A intron_variant OV-AU X 48790120 48790120 single base substitution G T downstream_gene_variant OV-AU X 48790120 48790120 single base substitution G T intron_variant OV-AU X 48791845 48791845 single base substitution G A downstream_gene_variant OV-AU X 48791845 48791845 single base substitution G A exon_variant OV-AU X 48791845 48791845 single base substitution G A synonymous_variant D100D 300C>T OV-AU X 48791845 48791845 single base substitution G A synonymous_variant D195D 585C>T OV-AU X 48791845 48791845 single base substitution G A synonymous_variant D317D 951C>T OV-AU X 48791845 48791845 single base substitution G A synonymous_variant D322D 966C>T OV-AU X 48791992 48791992 single base substitution T C exon_variant OV-AU X 48791992 48791992 single base substitution T C missense_variant Y174C 521A>G OV-AU X 48791992 48791992 single base substitution T C missense_variant Y301C 902A>G OV-AU X 48791992 48791992 single base substitution T C missense_variant Y84C 251A>G OV-AU X 48798403 48798403 single base substitution C T intron_variant OV-AU X 48798403 48798403 single base substitution C T upstream_gene_variant OV-AU X 48798574 48798574 single base substitution C T intron_variant OV-AU X 48798574 48798574 single base substitution C T upstream_gene_variant OV-AU X 48804623 48804623 single base substitution C A intron_variant OV-AU X 48808405 48808405 single base substitution G T intron_variant OV-AU X 48814451 48814451 single base substitution C A intron_variant OV-AU X 48814451 48814451 single base substitution C A missense_variant G128C 382G>T OV-AU X 48814451 48814451 single base substitution C A missense_variant G1C 1G>T OV-AU X 48814451 48814451 single base substitution C A upstream_gene_variant OV-AU X 48814951 48814951 single base substitution G T intron_variant OV-AU X 48814951 48814951 single base substitution G T upstream_gene_variant OV-AU X 48820568 48820568 single base substitution C T upstream_gene_variant PACA-AU X 48776061 48776061 single base substitution C T downstream_gene_variant PACA-AU X 48781484 48781484 single base substitution C T downstream_gene_variant PACA-AU X 48781484 48781484 single base substitution C T intron_variant PACA-AU X 48782888 48782888 single base substitution G A downstream_gene_variant PACA-AU X 48782888 48782888 single base substitution G A intron_variant PACA-AU X 48790066 48790066 single base substitution T A downstream_gene_variant PACA-AU X 48790066 48790066 single base substitution T A intron_variant PACA-AU X 48798311 48798311 single base substitution T A intron_variant PACA-AU X 48798311 48798311 single base substitution T A upstream_gene_variant PACA-AU X 48811670 48811670 deletion of <=200bp T - intron_variant PACA-AU X 48813934 48813934 single base substitution A G intron_variant PACA-AU X 48815193 48815193 single base substitution G A intron_variant PACA-AU X 48815193 48815193 single base substitution G A upstream_gene_variant PACA-AU X 48820625 48820625 single base substitution G A upstream_gene_variant PACA-CA X 48781083 48781083 single base substitution G A downstream_gene_variant PACA-CA X 48781083 48781083 single base substitution G A intron_variant PACA-CA X 48782783 48782783 single base substitution G A downstream_gene_variant PACA-CA X 48782783 48782783 single base substitution G A intron_variant PACA-CA X 48789254 48789254 single base substitution G A downstream_gene_variant PACA-CA X 48789254 48789254 single base substitution G A intron_variant PACA-CA X 48793926 48793926 single base substitution C A intron_variant PACA-CA X 48793926 48793926 single base substitution C A upstream_gene_variant PACA-CA X 48795740 48795740 single base substitution G C intron_variant PACA-CA X 48795740 48795740 single base substitution G C upstream_gene_variant PACA-CA X 48805289 48805289 single base substitution A G intron_variant PACA-CA X 48809339 48809339 single base substitution A C intron_variant PACA-CA X 48809659 48809659 single base substitution C T intron_variant PACA-CA X 48810895 48810895 single base substitution G T intron_variant PACA-CA X 48814871 48814871 single base substitution G A 5_prime_UTR_variant PACA-CA X 48814871 48814871 single base substitution G A intron_variant PACA-CA X 48814871 48814871 single base substitution G A upstream_gene_variant PACA-CA X 48819729 48819729 insertion of <=200bp - G upstream_gene_variant PBCA-DE X 48775682 48775683 deletion of <=200bp AC - downstream_gene_variant PBCA-DE X 48787359 48787359 single base substitution G A downstream_gene_variant PBCA-DE X 48787359 48787359 single base substitution G A intron_variant PBCA-DE X 48789765 48789765 insertion of <=200bp - T downstream_gene_variant PBCA-DE X 48789765 48789765 insertion of <=200bp - T intron_variant PBCA-DE X 48799379 48799380 deletion of <=200bp AC - intron_variant PBCA-DE X 48799490 48799490 insertion of <=200bp - ACACACAC intron_variant PBCA-DE X 48810827 48810827 single base substitution C T intron_variant PBCA-DE X 48817487 48817487 single base substitution C G upstream_gene_variant PRAD-CA X 48787058 48787058 single base substitution A C downstream_gene_variant PRAD-CA X 48787058 48787058 single base substitution A C intron_variant PRAD-CA X 48795395 48795395 single base substitution T C intron_variant PRAD-CA X 48795395 48795395 single base substitution T C upstream_gene_variant PRAD-UK X 48774687 48774687 single base substitution C T downstream_gene_variant PRAD-UK X 48792456 48792456 single base substitution G T intron_variant PRAD-UK X 48813770 48813770 single base substitution A C intron_variant PRAD-UK X 48819461 48819461 single base substitution T C upstream_gene_variant RECA-EU X 48775559 48775559 single base substitution G T downstream_gene_variant RECA-EU X 48781556 48781556 single base substitution T C downstream_gene_variant RECA-EU X 48781556 48781556 single base substitution T C intron_variant RECA-EU X 48785723 48785723 single base substitution C A intron_variant RECA-EU X 48793898 48793898 single base substitution C A intron_variant RECA-EU X 48793898 48793898 single base substitution C A upstream_gene_variant SKCA-BR X 48775287 48775287 single base substitution G A downstream_gene_variant SKCA-BR X 48778400 48778400 single base substitution G A downstream_gene_variant SKCA-BR X 48782606 48782606 single base substitution A C downstream_gene_variant SKCA-BR X 48782606 48782606 single base substitution A C intron_variant SKCA-BR X 48785075 48785075 single base substitution G A intron_variant SKCA-BR X 48785134 48785134 single base substitution C T intron_variant SKCA-BR X 48787140 48787140 single base substitution G A downstream_gene_variant SKCA-BR X 48787140 48787140 single base substitution G A intron_variant SKCA-BR X 48787823 48787823 single base substitution T A downstream_gene_variant SKCA-BR X 48787823 48787823 single base substitution T A intron_variant SKCA-BR X 48790242 48790242 single base substitution G A downstream_gene_variant SKCA-BR X 48790242 48790242 single base substitution G A intron_variant SKCA-BR X 48795965 48795965 insertion of <=200bp - CA intron_variant SKCA-BR X 48795965 48795965 insertion of <=200bp - CA upstream_gene_variant SKCA-BR X 48798676 48798676 single base substitution C T intron_variant SKCA-BR X 48813248 48813248 single base substitution G A intron_variant SKCA-BR X 48815676 48815676 single base substitution C T upstream_gene_variant SKCA-BR X 48819762 48819762 single base substitution C T upstream_gene_variant SKCM-US X 48780999 48780999 single base substitution C T downstream_gene_variant SKCM-US X 48780999 48780999 single base substitution C T missense_variant G280E 839G>A SKCM-US X 48780999 48780999 single base substitution C T missense_variant G375E 1124G>A SKCM-US X 48780999 48780999 single base substitution C T missense_variant G497E 1490G>A SKCM-US X 48780999 48780999 single base substitution C T missense_variant G502E 1505G>A SKCM-US X 48791869 48791869 single base substitution G A exon_variant SKCM-US X 48791869 48791869 single base substitution G A synonymous_variant F187F 561C>T SKCM-US X 48791869 48791869 single base substitution G A synonymous_variant F309F 927C>T SKCM-US X 48791869 48791869 single base substitution G A synonymous_variant F314F 942C>T SKCM-US X 48791869 48791869 single base substitution G A synonymous_variant F92F 276C>T SKCM-US X 48814363 48814363 single base substitution C T intron_variant SKCM-US X 48814363 48814363 single base substitution C T missense_variant G157E 470G>A SKCM-US X 48814363 48814363 single base substitution C T missense_variant G30E 89G>A SKCM-US X 48814363 48814363 single base substitution C T upstream_gene_variant SKCM-US X 48819939 48819939 single base substitution G A upstream_gene_variant SKCM-US X 48820004 48820004 single base substitution G A upstream_gene_variant STAD-US X 48776073 48776073 insertion of <=200bp - G downstream_gene_variant STAD-US X 48776164 48776164 single base substitution G A downstream_gene_variant STAD-US X 48781133 48781133 single base substitution G A downstream_gene_variant STAD-US X 48781133 48781133 single base substitution G A missense_variant A270V 809C>T STAD-US X 48781133 48781133 single base substitution G A missense_variant A365V 1094C>T STAD-US X 48781133 48781133 single base substitution G A missense_variant A487V 1460C>T STAD-US X 48781133 48781133 single base substitution G A missense_variant A492V 1475C>T STAD-US X 48791968 48791968 single base substitution C G exon_variant STAD-US X 48791968 48791968 single base substitution C G intron_variant STAD-US X 48791968 48791968 single base substitution C G splice_donor_variant STAD-US X 48792100 48792100 single base substitution T C exon_variant STAD-US X 48792100 48792100 single base substitution T C missense_variant D138G 413A>G STAD-US X 48792100 48792100 single base substitution T C missense_variant D265G 794A>G STAD-US X 48792100 48792100 single base substitution T C missense_variant D48G 143A>G STAD-US X 48820066 48820066 single base substitution G A upstream_gene_variant THCA-SA X 48781234 48781234 deletion of <=200bp T - downstream_gene_variant THCA-SA X 48781234 48781234 deletion of <=200bp T - frameshift_variant S236 THCA-SA X 48781234 48781234 deletion of <=200bp T - frameshift_variant S331 THCA-SA X 48781234 48781234 deletion of <=200bp T - frameshift_variant S453 THCA-SA X 48781234 48781234 deletion of <=200bp T - frameshift_variant S458 THCA-SA X 48814749 48814749 insertion of <=200bp - A frameshift_variant P28P? THCA-SA X 48814749 48814749 insertion of <=200bp - A intron_variant THCA-SA X 48814749 48814749 insertion of <=200bp - A upstream_gene_variant THCA-SA X 48814757 48814757 deletion of <=200bp T - frameshift_variant M26 THCA-SA X 48814757 48814757 deletion of <=200bp T - intron_variant THCA-SA X 48814757 48814757 deletion of <=200bp T - upstream_gene_variant THCA-US X 48781191 48781191 single base substitution T C downstream_gene_variant THCA-US X 48781191 48781191 single base substitution T C missense_variant M251V 751A>G THCA-US X 48781191 48781191 single base substitution T C missense_variant M346V 1036A>G THCA-US X 48781191 48781191 single base substitution T C missense_variant M468V 1402A>G THCA-US X 48781191 48781191 single base substitution T C missense_variant M473V 1417A>G UCEC-US X 48775920 48775920 single base substitution C A downstream_gene_variant UCEC-US X 48776111 48776111 single base substitution T C downstream_gene_variant UCEC-US X 48780481 48780481 single base substitution C T downstream_gene_variant UCEC-US X 48780481 48780481 single base substitution C T synonymous_variant V340V 1020G>A UCEC-US X 48780481 48780481 single base substitution C T synonymous_variant V435V 1305G>A UCEC-US X 48780481 48780481 single base substitution C T synonymous_variant V557V 1671G>A UCEC-US X 48780481 48780481 single base substitution C T synonymous_variant V562V 1686G>A UCEC-US X 48781194 48781194 single base substitution C T downstream_gene_variant UCEC-US X 48781194 48781194 single base substitution C T missense_variant G250S 748G>A UCEC-US X 48781194 48781194 single base substitution C T missense_variant G345S 1033G>A UCEC-US X 48781194 48781194 single base substitution C T missense_variant G467S 1399G>A UCEC-US X 48781194 48781194 single base substitution C T missense_variant G472S 1414G>A UCEC-US X 48781228 48781228 single base substitution C T downstream_gene_variant UCEC-US X 48781228 48781228 single base substitution C T synonymous_variant S238S 714G>A UCEC-US X 48781228 48781228 single base substitution C T synonymous_variant S333S 999G>A UCEC-US X 48781228 48781228 single base substitution C T synonymous_variant S455S 1365G>A UCEC-US X 48781228 48781228 single base substitution C T synonymous_variant S460S 1380G>A UCEC-US X 48781301 48781301 single base substitution G A downstream_gene_variant UCEC-US X 48781301 48781301 single base substitution G A missense_variant S214L 641C>T UCEC-US X 48781301 48781301 single base substitution G A missense_variant S309L 926C>T UCEC-US X 48781301 48781301 single base substitution G A missense_variant S431L 1292C>T UCEC-US X 48781301 48781301 single base substitution G A missense_variant S436L 1307C>T UCEC-US X 48783167 48783167 single base substitution G A downstream_gene_variant UCEC-US X 48783167 48783167 single base substitution G A missense_variant R190W 568C>T UCEC-US X 48783167 48783167 single base substitution G A missense_variant R285W 853C>T UCEC-US X 48783167 48783167 single base substitution G A missense_variant R407W 1219C>T UCEC-US X 48783167 48783167 single base substitution G A missense_variant R412W 1234C>T UCEC-US X 48791820 48791820 single base substitution G A downstream_gene_variant UCEC-US X 48791820 48791820 single base substitution G A exon_variant UCEC-US X 48791820 48791820 single base substitution G A missense_variant R109W 325C>T UCEC-US X 48791820 48791820 single base substitution G A missense_variant R204W 610C>T UCEC-US X 48791820 48791820 single base substitution G A missense_variant R326W 976C>T UCEC-US X 48791820 48791820 single base substitution G A missense_variant R331W 991C>T UCEC-US X 48792074 48792074 single base substitution G A exon_variant UCEC-US X 48792074 48792074 single base substitution G A missense_variant R147W 439C>T UCEC-US X 48792074 48792074 single base substitution G A missense_variant R274W 820C>T UCEC-US X 48792074 48792074 single base substitution G A missense_variant R57W 169C>T UCEC-US X 48801514 48801514 single base substitution C A 5_prime_UTR_variant UCEC-US X 48801514 48801514 single base substitution C A exon_variant UCEC-US X 48801514 48801514 single base substitution C A missense_variant D209Y 625G>T UCEC-US X 48801514 48801514 single base substitution C A missense_variant D82Y 244G>T UCEC-US X 48814375 48814375 single base substitution C T intron_variant UCEC-US X 48814375 48814375 single base substitution C T missense_variant R153H 458G>A UCEC-US X 48814375 48814375 single base substitution C T missense_variant R26H 77G>A UCEC-US X 48814375 48814375 single base substitution C T upstream_gene_variant UCEC-US X 48816516 48816516 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC794T COSM4954079 c.1092G>A p.L364L Substitution - coding silent 23:48926033-48926033 - TCGA-D8-A1JK-01 COSM3844874 c.1509C>T p.A503A Substitution - coding silent 23:48923718-48923718 - BD72T COSM2966704 c.1499C>T p.S500L Substitution - Missense 23:48923728-48923728 - TCGA-CA-6717-01 COSM1468266 c.1466C>T p.S489L Substitution - Missense 23:48923865-48923865 - TCGA-D1-A16Y-01 COSM267092 c.1234C>T p.R412W Substitution - Missense 23:48925891-48925891 - TCGA-DA-A1IC-06 COSM3561996 c.1505G>A p.G502E Substitution - Missense 23:48923722-48923722 - CSCC-16-T COSM4469154 c.1584C>T p.P528P Substitution - coding silent 23:48923643-48923643 - HCT-116 COSM1682604 c.713A>C p.D238A Substitution - Missense 23:48934994-48934994 - TCGA-DU-7018-01 COSM1468268 c.966C>T p.D322D Substitution - coding silent 23:48934572-48934572 - S01542 COSM5669855 c.105T>G p.G35G Substitution - coding silent 23:48957466-48957466 - HCC151 COSM3708648 c.606G>A p.W202* Substitution - Nonsense 23:48944272-48944272 - AOCS-135-3-1 COSM4149092 c.382G>T p.G128C Substitution - Missense 23:48957189-48957189 - PT51 COSM5938535 c.967G>A p.E323K Substitution - Missense 23:48934571-48934571 - HCC125T COSM1625946 c.731G>A p.R244Q Substitution - Missense 23:48934976-48934976 - TCGA-26-5136-01 COSM3406426 c.537C>T p.D179D Substitution - coding silent 23:48957034-48957034 - TCGA-D5-7000-01 COSM1468262 c.1559G>A p.R520Q Substitution - Missense 23:48923668-48923668 - TCGA-34-5232-01 COSM757116 c.667G>A p.A223T Substitution - Missense 23:48944211-48944211 - TCGA-CK-4951-01 COSM1468262 c.1559G>A p.R520Q Substitution - Missense 23:48923668-48923668 - TCGA-AA-3966-01 COSM273063 c.666C>T p.G222G Substitution - coding silent 23:48944212-48944212 - HCT116 COSM1682604 c.713A>C p.D238A Substitution - Missense 23:48934994-48934994 - SNU-C2B COSM4651717 c.1264C>T p.R422* Substitution - Nonsense 23:48925861-48925861 - Gp5D COSM1122250 c.991C>T p.R331W Substitution - Missense 23:48934547-48934547 - CHC794T COSM4954022 c.1245G>A p.E415E Substitution - coding silent 23:48925880-48925880 - Pa36X COSM85212 c.1295C>T p.A432V Substitution - Missense 23:48924036-48924036 - TCGA-BK-A0C9-01 COSM269805 c.820C>T p.R274W Substitution - Missense 23:48934801-48934801 - T155 COSM1176535 c.1088C>T p.S363F Substitution - Missense 23:48926037-48926037 - TCGA-A6-3810-01 COSM5087622 c.679C>T p.R227W Substitution - Missense 23:48944199-48944199 - AOCS-135-8-X COSM4149092 c.382G>T p.G128C Substitution - Missense 23:48957189-48957189 - 4-01-T1 COSM4745816 c.868G>A p.E290K Substitution - Missense 23:48934753-48934753 - TCGA-AP-A059-01 COSM1122254 c.458G>A p.R153H Substitution - Missense 23:48957113-48957113 - Pat_44_B COSM5877949 c.880C>T p.R294C Substitution - Missense 23:48934741-48934741 - Gp2D COSM1122250 c.991C>T p.R331W Substitution - Missense 23:48934547-48934547 - LUAD-B02594 COSM356547 c.1432C>T p.P478S Substitution - Missense 23:48923899-48923899 - TCGA-AX-A0J0-01 COSM1122252 c.625G>T p.D209Y Substitution - Missense 23:48944253-48944253 - TCGA-B5-A11E-01 COSM1122246 c.1380G>A p.S460S Substitution - coding silent 23:48923951-48923951 - TCGA-BS-A0UF-01 COSM1122250 c.991C>T p.R331W Substitution - Missense 23:48934547-48934547 - BRC39 COSM5028919 c.1307C>A p.S436* Substitution - Nonsense 23:48924024-48924024 - TCGA-A3-3320-01 COSM1497261 c.810T>A p.I270I Substitution - coding silent 23:48934811-48934811 - TCGA-G4-6588-01 COSM1468268 c.966C>T p.D322D Substitution - coding silent 23:48934572-48934572 - TCGA-AA-3672-01 COSM267092 c.1234C>T p.R412W Substitution - Missense 23:48925891-48925891 - HCC2998 COSM2966712 c.759G>A p.K253K Substitution - coding silent 23:48934862-48934862 - TCGA-D5-6930-01 COSM1468264 c.1467G>C p.S489S Substitution - coding silent 23:48923864-48923864 - PTC_511 COSM5959825 c.76delA p.M26fs*112 Deletion - Frameshift 23:48957495-48957495 - MCN169 COSM249086 c.1510G>A p.D504N Substitution - Missense 23:48923717-48923717 - TCGA-FV-A4ZP-01 COSM4929489 c.8T>C p.I3T Substitution - Missense 23:48957563-48957563 - TCGA-C5-A3HE-01 COSM4827977 c.721G>A p.E241K Substitution - Missense 23:48934986-48934986 - TCGA-B5-A11E-01 COSM1122244 c.1414G>A p.G472S Substitution - Missense 23:48923917-48923917 - PTC_511 COSM5959824 c.83_84insT p.A29fs*25 Insertion - Frameshift 23:48957487-48957488 - TCGA-EE-A29D-06 COSM3561998 c.942C>T p.F314F Substitution - coding silent 23:48934596-48934596 - CCK81 COSM4611497 c.1528_1529insC p.L510fs*26 Insertion - Frameshift 23:48923698-48923699 - CHC794T COSM4954022 c.1245G>A p.E415E Substitution - coding silent 23:48925880-48925880 - HCC125 COSM1625946 c.731G>A p.R244Q Substitution - Missense 23:48934976-48934976 - TCGA-06-0166-01 COSM3406428 c.514G>A p.G172S Substitution - Missense 23:48957057-48957057 - 4-01-T1 COSM4745818 c.538G>A p.E180K Substitution - Missense 23:48957033-48957033 - CSCC-15-T COSM4454929 c.614A>T p.K205M Substitution - Missense 23:48944264-48944264 - TCGA-BR-8680-01 COSM4109827 c.925+1G>C p.? Unknown 23:48934695-48934695 - KM12 COSM4639291 c.362C>T p.A121V Substitution - Missense 23:48957209-48957209 - AOCS-135-3-1 COSM4149090 c.902A>G p.Y301C Substitution - Missense 23:48934719-48934719 - Pat_24_A COSM5877947 c.977G>A p.R326H Substitution - Missense 23:48934561-48934561 - ESCC_158 COSM5646975 c.92G>A p.R31Q Substitution - Missense 23:48957479-48957479 - SJHGG002_D COSM4968747 c.1022C>A p.P341H Substitution - Missense 23:48934516-48934516 - 587278 COSM1219001 c.1310C>T p.A437V Substitution - Missense 23:48924021-48924021 - PTC_285 COSM5959040 c.1374delA p.A459fs*15 Deletion - Frameshift 23:48923957-48923957 - TCGA-BT-A2LB-01 COSM3800631 c.1671G>A p.M557I Substitution - Missense 23:48923219-48923219 - TCGA-G4-6309-01 COSM1468270 c.478G>A p.A160T Substitution - Missense 23:48957093-48957093 - TCGA-BR-6852-01 COSM4109825 c.1475C>T p.A492V Substitution - Missense 23:48923856-48923856 - HCC151T COSM3708648 c.606G>A p.W202* Substitution - Nonsense 23:48944272-48944272 - S02351 COSM5676965 c.111C>G p.G37G Substitution - coding silent 23:48957460-48957460 - HDC90 COSM4637554 c.699G>T p.V233V Substitution - coding silent 23:48935008-48935008 - TCGA-AA-3715-01 COSM269805 c.820C>T p.R274W Substitution - Missense 23:48934801-48934801 - TCGA-AU-6004-01 COSM3694616 c.66G>A p.P22P Substitution - coding silent 23:48957505-48957505 - TCGA-EB-A44P-01 COSM3562000 c.470G>A p.G157E Substitution - Missense 23:48957101-48957101 - DN14067 COSM5963101 c.191C>T p.S64L Substitution - Missense 23:48957380-48957380 - TCGA-JW-A5VH-01 COSM4855034 c.596A>G p.Q199R Substitution - Missense 23:48944282-48944282 - TCGA-AP-A0LP-01 COSM1122242 c.1686G>A p.V562V Substitution - coding silent 23:48923204-48923204 - TCGA-BR-8680-01 COSM4109828 c.794A>G p.D265G Substitution - Missense 23:48934827-48934827 - TCGA-EM-A4FO-01 COSM3372277 c.1417A>G p.M473V Substitution - Missense 23:48923914-48923914 - Gp2D COSM2966710 c.1103C>T p.A368V Substitution - Missense 23:48926022-48926022 - S01023 COSM5666895 c.45C>T p.D15D Substitution - coding silent 23:48957526-48957526 - ESCC_13 COSM5625410 c.917C>T p.S306F Substitution - Missense 23:48934704-48934704 - TCGA-CM-6677-01 COSM1468272 c.42C>T p.A14A Substitution - coding silent 23:48957529-48957529 - TCGA-B5-A11E-01 COSM1122248 c.1307C>T p.S436L Substitution - Missense 23:48924024-48924024 - SJHGG002_A COSM4968747 c.1022C>A p.P341H Substitution - Missense 23:48934516-48934516 - TCGA-F4-6855-01 COSM3694617 c.63G>A p.P21P Substitution - coding silent 23:48957508-48957508 - LIM2551 COSM4644970 c.823A>G p.K275E Substitution - Missense 23:48934798-48934798 - T14 COSM5346006 c.276T>G p.G92G Substitution - coding silent 23:48957295-48957295 - CHC794T COSM4954079 c.1092G>A p.L364L Substitution - coding silent 23:48926033-48926033 - YULOCUS COSM3844874 c.1509C>T p.A503A Substitution - coding silent 23:48923718-48923718 - T3104 COSM4710575 c.1514G>A p.R505Q Substitution - Missense 23:48923713-48923713 - CSCC-54-T COSM3561998 c.942C>T p.F314F Substitution - coding silent 23:48934596-48934596 - AOCS-137-3-7 COSM1468268 c.966C>T p.D322D Substitution - coding silent 23:48934572-48934572 - tumor_4113191 COSM5947793 c.1480+2T>G p.? Unknown 23:48923849-48923849 - BD18T COSM5346006 c.276T>G p.G92G Substitution - coding silent 23:48957295-48957295 - CSCC-20-T COSM4466386 c.1431C>T p.S477S Substitution - coding silent 23:48923900-48923900 - S02241 COSM5676965 c.111C>G p.G37G Substitution - coding silent 23:48957460-48957460 - tumor_4163639 COSM1161826 c.535G>T p.D179Y Substitution - Missense 23:48957036-48957036 - Gp5D COSM2966710 c.1103C>T p.A368V Substitution - Missense 23:48926022-48926022 - tumor_4113191 COSM5947795 c.1442T>G p.V481G Substitution - Missense 23:48923889-48923889 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.496096;Hs.496098 Xp11.23 300713

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.D179Y c.535G>T X 48814298 DLBCL C A Missense p.R412L c.1235G>T X 48783166 LUAD C A Missense p.V327F c.979G>T X 48791832 LUAD C A Synonymous p.L546L c.1638G>T X 48780529 LUAD C G Missense p.E378Q c.1132G>C X 48783269 HNSC C T Missense p.A223T c.667G>A X 48801472 LUSC C T Missense p.G172S c.514G>A X 48814319 GBM C T Missense p.G502E c.1505G>A X 48780999 CM C T Missense p.M365I c.1095G>A X 48783306 CM C T Missense p.M557I c.1671G>A X 48780496 BLCA C T Missense p.R274Q c.821G>A X 48792073 CM C T Synonymous p.V562V c.1686G>A X 48780481 UCEC G A Missense p.A492V c.1475C>T X 48781133 STAD G A Missense p.R274W c.820C>T X 48792074 UCEC G A Missense p.R412W c.1234C>T X 48783167 UCEC G A Synonymous p.A255A c.765C>T X 48792129 CM G A Synonymous p.D179D c.537C>T X 48814296 GBM G A Synonymous p.D322D c.966C>T X 48791845 LGG G C Missense p.P427A c.1279C>G X 48781329 GBM G C Missense p.R456G c.1366C>G X 48781242 LUAD G T Nonsense p.S436* c.1307C>A X 48781301 BRCA G T Synonymous p.S527S c.1581C>A X 48780923 HNSC T A Missense p.E470V c.1409A>T X 48781199 ALL