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 102192303 102192303 + Silent SNP G G T TCGA-OR-A5JT-01A-11D-A29I-10 TCGA-OR-A5JT-10A-01D-A29L-10 g.chrX:102192303G>T c.57G>T c.(55-57)ctG>ctT p.L19L BLCA 23 102192352 102192352 + Missense_Mutation SNP G G A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 g.chrX:102192352G>A c.106G>A c.(106-108)Gac>Aac p.D36N BLCA 23 102192682 102192682 + Missense_Mutation SNP G G A TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chrX:102192682G>A c.436G>A c.(436-438)Gag>Aag p.E146K BLCA 23 102192696 102192696 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chrX:102192696G>A c.450G>A c.(448-450)gtG>gtA p.V150V BRCA 23 102192645 102192645 + Missense_Mutation SNP G G C TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chrX:102192645G>C c.399G>C c.(397-399)aaG>aaC p.K133N BRCA 23 102192925 102192925 + Missense_Mutation SNP A A G TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chrX:102192925A>G c.679A>G c.(679-681)Atg>Gtg p.M227V CESC 23 102192462 102192462 + Silent SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chrX:102192462G>C c.216G>C c.(214-216)ggG>ggC p.G72G CESC 23 102192891 102192891 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 g.chrX:102192891C>T c.645C>T c.(643-645)ccC>ccT p.P215P COAD 23 102192301 102192301 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chrX:102192301C>T c.55C>T c.(55-57)Ctg>Ttg p.L19L COAD 23 102192384 102192384 + Frame_Shift_Del DEL G G - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chrX:102192384delG c.138delG c.(136-138)ctgfs p.L46fs COAD 23 102192407 102192407 + Missense_Mutation SNP C C G TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chrX:102192407C>G c.161C>G c.(160-162)aCc>aGc p.T54S COAD 23 102192430 102192430 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chrX:102192430C>T c.184C>T c.(184-186)Cgg>Tgg p.R62W COAD 23 102192985 102192985 + Missense_Mutation SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chrX:102192985T>C c.739T>C c.(739-741)Tcc>Ccc p.S247P COAD 23 102193053 102193053 + Silent SNP C C T TCGA-AA-3680-01A-01W-0900-09 TCGA-AA-3680-10A-01W-0900-09 g.chrX:102193053C>T c.807C>T c.(805-807)aaC>aaT p.N269N COADREAD 23 102192301 102192301 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chrX:102192301C>T c.55C>T c.(55-57)Ctg>Ttg p.L19L COADREAD 23 102192384 102192384 + Frame_Shift_Del DEL G G - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chrX:102192384delG c.138delG c.(136-138)ctgfs p.L46fs COADREAD 23 102192407 102192407 + Missense_Mutation SNP C C G TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chrX:102192407C>G c.161C>G c.(160-162)aCc>aGc p.T54S COADREAD 23 102192430 102192430 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chrX:102192430C>T c.184C>T c.(184-186)Cgg>Tgg p.R62W COADREAD 23 102192956 102192956 + Missense_Mutation SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chrX:102192956G>A c.710G>A c.(709-711)cGa>cAa p.R237Q COADREAD 23 102192985 102192985 + Missense_Mutation SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chrX:102192985T>C c.739T>C c.(739-741)Tcc>Ccc p.S247P COADREAD 23 102193053 102193053 + Silent SNP C C T TCGA-AA-3680-01A-01W-0900-09 TCGA-AA-3680-10A-01W-0900-09 g.chrX:102193053C>T c.807C>T c.(805-807)aaC>aaT p.N269N DLBC 23 102192372 102192372 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chrX:102192372G>A c.126G>A c.(124-126)ccG>ccA p.P42P DLBC 23 102192885 102192885 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chrX:102192885G>A c.639G>A c.(637-639)ccG>ccA p.P213P ESCA 23 102192431 102192431 + Missense_Mutation SNP G G C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 g.chrX:102192431G>C c.185G>C c.(184-186)cGg>cCg p.R62P GBMLGG 23 102192394 102192394 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:102192394G>A c.148G>A c.(148-150)Gac>Aac p.D50N GBMLGG 23 102192955 102192955 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:102192955C>T c.709C>T c.(709-711)Cga>Tga p.R237* HNSC 23 102192824 102192824 + Missense_Mutation SNP A A G TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chrX:102192824A>G c.578A>G c.(577-579)cAa>cGa p.Q193R HNSC 23 102192947 102192947 + Missense_Mutation SNP G G A TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 g.chrX:102192947G>A c.701G>A c.(700-702)aGg>aAg p.R234K LGG 23 102192394 102192394 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:102192394G>A c.148G>A c.(148-150)Gac>Aac p.D50N LGG 23 102192955 102192955 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:102192955C>T c.709C>T c.(709-711)Cga>Tga p.R237* LIHC 23 102192893 102192893 + Missense_Mutation SNP T T C TCGA-GJ-A3OU-01A-31D-A382-10 TCGA-GJ-A3OU-10A-01D-A385-10 g.chrX:102192893T>C c.647T>C c.(646-648)aTt>aCt p.I216T LUAD 23 102192261 102192261 + Silent SNP C C T TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chrX:102192261C>T c.15C>T c.(13-15)ggC>ggT p.G5G LUAD 23 102192279 102192279 + Silent SNP C C T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chrX:102192279C>T c.33C>T c.(31-33)taC>taT p.Y11Y LUAD 23 102192368 102192368 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chrX:102192368delC c.122delC c.(121-123)tccfs p.S41fs LUAD 23 102192642 102192642 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chrX:102192642C>T c.396C>T c.(394-396)ttC>ttT p.F132F LUAD 23 102192749 102192749 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chrX:102192749C>T c.503C>T c.(502-504)aCg>aTg p.T168M LUAD 23 102193080 102193080 + Silent SNP T T C TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chrX:102193080T>C c.834T>C c.(832-834)tcT>tcC p.S278S LUSC 23 102192749 102192749 + Missense_Mutation SNP C C T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chrX:102192749C>T c.503C>T c.(502-504)aCg>aTg p.T168M LUSC 23 102192998 102192998 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chrX:102192998G>T c.752G>T c.(751-753)aGg>aTg p.R251M OV 23 102192279 102192279 + Silent SNP C C T TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 g.chrX:102192279C>T c.33C>T c.(31-33)taC>taT p.Y11Y OV 23 102192455 102192456 + Missense_Mutation DNP CG CG TT TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 g.chrX:102192455_102192456CG>TT c.209_210CG>TT c.(208-210)aCG>aTT p.T70I READ 23 102192956 102192956 + Missense_Mutation SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chrX:102192956G>A c.710G>A c.(709-711)cGa>cAa p.R237Q SKCM 23 102192851 102192851 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chrX:102192851C>T c.605C>T c.(604-606)tCc>tTc p.S202F SKCM 23 102192924 102192924 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 g.chrX:102192924C>T c.678C>T c.(676-678)tcC>tcT p.S226S SKCM 23 102193017 102193017 + Silent SNP G G A TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chrX:102193017G>A c.771G>A c.(769-771)gtG>gtA p.V257V SKCM 23 102193023 102193023 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chrX:102193023C>T c.777C>T c.(775-777)atC>atT p.I259I SKCM 23 102193023 102193023 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:102193023C>T c.777C>T c.(775-777)atC>atT p.I259I SKCM 23 102193059 102193059 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chrX:102193059C>T c.813C>T c.(811-813)acC>acT p.T271T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU X 102187783 102187783 single base substitution C T upstream_gene_variant BRCA-EU X 102189138 102189139 deletion of <=200bp TG - upstream_gene_variant BRCA-EU X 102190694 102190694 single base substitution A T upstream_gene_variant BRCA-EU X 102190875 102190875 single base substitution A G upstream_gene_variant BRCA-EU X 102194377 102194377 single base substitution G A downstream_gene_variant BRCA-EU X 102194808 102194808 single base substitution G C downstream_gene_variant BRCA-EU X 102195987 102195987 single base substitution C T downstream_gene_variant BRCA-EU X 102196698 102196698 single base substitution T A downstream_gene_variant BRCA-EU X 102196786 102196786 single base substitution G A downstream_gene_variant BRCA-EU X 102197152 102197152 single base substitution C A downstream_gene_variant BRCA-EU X 102197592 102197592 single base substitution C T downstream_gene_variant BRCA-FR X 102192686 102192686 single base substitution G A missense_variant R147H 440G>A BRCA-FR X 102194377 102194377 single base substitution G A downstream_gene_variant BRCA-UK X 102196920 102196920 single base substitution C T downstream_gene_variant BRCA-US X 102192645 102192645 single base substitution G C missense_variant K133N 399G>C BRCA-US X 102192925 102192925 single base substitution A G missense_variant M227V 679A>G BTCA-JP X 102192223 102192223 single base substitution C A 5_prime_UTR_variant BTCA-JP X 102192458 102192458 single base substitution C T missense_variant S71L 212C>T CESC-US X 102192462 102192462 single base substitution G C synonymous_variant G72G 216G>C CESC-US X 102192891 102192891 single base substitution C T synonymous_variant P215P 645C>T COAD-US X 102192301 102192301 single base substitution C T synonymous_variant L19L 55C>T COAD-US X 102192384 102192384 deletion of <=200bp G - frameshift_variant L46 COAD-US X 102192407 102192407 single base substitution C G missense_variant T54S 161C>G COAD-US X 102192422 102192422 single base substitution A G missense_variant D59G 176A>G COAD-US X 102192423 102192423 single base substitution C A missense_variant D59E 177C>A COAD-US X 102192430 102192430 single base substitution C T missense_variant R62W 184C>T COCA-CN X 102192842 102192842 single base substitution C T missense_variant T199I 596C>T COCA-CN X 102193079 102193079 single base substitution C A missense_variant S278Y 833C>A ESCA-CN X 102193183 102193183 single base substitution G A 3_prime_UTR_variant LICA-FR X 102193905 102193905 single base substitution A C downstream_gene_variant LINC-JP X 102196456 102196456 single base substitution A G downstream_gene_variant LIRI-JP X 102187881 102187881 single base substitution G A upstream_gene_variant LIRI-JP X 102190346 102190346 single base substitution A G upstream_gene_variant LIRI-JP X 102193916 102193916 single base substitution G A downstream_gene_variant LIRI-JP X 102195662 102195662 single base substitution T A downstream_gene_variant LUSC-KR X 102190129 102190129 single base substitution G T upstream_gene_variant LUSC-KR X 102195084 102195084 single base substitution C A downstream_gene_variant LUSC-US X 102192749 102192749 single base substitution C T missense_variant T168M 503C>T LUSC-US X 102192998 102192998 single base substitution G T missense_variant R251M 752G>T MALY-DE X 102191180 102191180 insertion of <=200bp - A upstream_gene_variant MALY-DE X 102194269 102194269 single base substitution G A downstream_gene_variant MALY-DE X 102195598 102195598 single base substitution G T downstream_gene_variant MALY-DE X 102197014 102197014 single base substitution A C downstream_gene_variant MALY-DE X 102197366 102197366 single base substitution T C downstream_gene_variant MELA-AU X 102187267 102187267 single base substitution G A upstream_gene_variant MELA-AU X 102188630 102188631 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU X 102188830 102188830 single base substitution C T upstream_gene_variant MELA-AU X 102188956 102188957 deletion of <=200bp AT - upstream_gene_variant MELA-AU X 102190244 102190244 single base substitution A T upstream_gene_variant MELA-AU X 102190454 102190454 single base substitution C T upstream_gene_variant MELA-AU X 102190546 102190546 single base substitution C T upstream_gene_variant MELA-AU X 102190569 102190569 single base substitution C T upstream_gene_variant MELA-AU X 102190644 102190644 single base substitution G A upstream_gene_variant MELA-AU X 102190872 102190872 single base substitution A G upstream_gene_variant MELA-AU X 102191095 102191095 single base substitution C T upstream_gene_variant MELA-AU X 102191471 102191471 single base substitution C T upstream_gene_variant MELA-AU X 102192127 102192127 single base substitution C T upstream_gene_variant MELA-AU X 102192786 102192786 single base substitution G A synonymous_variant L180L 540G>A MELA-AU X 102192918 102192918 single base substitution C T synonymous_variant S224S 672C>T MELA-AU X 102192965 102192965 single base substitution C T missense_variant S240F 719C>T MELA-AU X 102193023 102193023 single base substitution C T synonymous_variant I259I 777C>T MELA-AU X 102194656 102194656 single base substitution C T downstream_gene_variant MELA-AU X 102194859 102194859 single base substitution G A downstream_gene_variant MELA-AU X 102195221 102195221 single base substitution C T downstream_gene_variant MELA-AU X 102195858 102195858 single base substitution A G downstream_gene_variant MELA-AU X 102196772 102196773 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 102196873 102196873 single base substitution T A downstream_gene_variant MELA-AU X 102197713 102197713 single base substitution T C downstream_gene_variant MELA-AU X 102197775 102197775 single base substitution C T downstream_gene_variant MELA-AU X 102198155 102198155 single base substitution C A downstream_gene_variant OV-AU X 102194183 102194183 single base substitution G A downstream_gene_variant OV-US X 102192455 102192455 single base substitution C T missense_variant T70M 209C>T OV-US X 102192456 102192456 single base substitution G T synonymous_variant T70T 210G>T PACA-AU X 102188115 102188115 single base substitution C G upstream_gene_variant PACA-AU X 102191039 102191039 single base substitution T C upstream_gene_variant PACA-AU X 102191100 102191100 single base substitution C T upstream_gene_variant PACA-AU X 102195766 102195766 single base substitution T C downstream_gene_variant PACA-AU X 102197724 102197724 single base substitution G T downstream_gene_variant PACA-CA X 102191394 102191394 single base substitution A G upstream_gene_variant PACA-CA X 102191609 102191609 single base substitution G A upstream_gene_variant PACA-CA X 102192738 102192738 single base substitution A G missense_variant I164M 492A>G PACA-CA X 102197883 102197883 single base substitution C T downstream_gene_variant PAEN-AU X 102195142 102195142 single base substitution G T downstream_gene_variant PRAD-UK X 102187539 102187539 single base substitution A T upstream_gene_variant RECA-EU X 102187769 102187769 single base substitution G C upstream_gene_variant SKCA-BR X 102189553 102189553 single base substitution C T upstream_gene_variant SKCA-BR X 102189970 102189970 single base substitution C G upstream_gene_variant SKCA-BR X 102190570 102190570 single base substitution C T upstream_gene_variant SKCA-BR X 102195274 102195274 single base substitution G A downstream_gene_variant SKCA-BR X 102195661 102195661 single base substitution C T downstream_gene_variant SKCA-BR X 102197727 102197727 single base substitution C T downstream_gene_variant SKCM-US X 102192851 102192851 single base substitution C T missense_variant S202F 605C>T SKCM-US X 102192924 102192924 single base substitution C T synonymous_variant S226S 678C>T SKCM-US X 102193017 102193017 single base substitution G A synonymous_variant V257V 771G>A SKCM-US X 102193023 102193023 single base substitution C T synonymous_variant I259I 777C>T SKCM-US X 102193059 102193059 single base substitution C T synonymous_variant T271T 813C>T STAD-US X 102192725 102192725 single base substitution A T missense_variant N160I 479A>T STAD-US X 102192886 102192886 single base substitution C T missense_variant L214F 640C>T UCEC-US X 102192373 102192373 single base substitution T C missense_variant Y43H 127T>C UCEC-US X 102192541 102192541 single base substitution C T missense_variant R99C 295C>T UCEC-US X 102192553 102192553 single base substitution G A missense_variant E103K 307G>A UCEC-US X 102192654 102192654 single base substitution G A synonymous_variant V136V 408G>A UCEC-US X 102192748 102192748 single base substitution A G missense_variant T168A 502A>G UCEC-US X 102192955 102192955 single base substitution C T stop_gained R237* 709C>T UCEC-US X 102192977 102192977 single base substitution C T missense_variant T244I 731C>T UCEC-US X 102192998 102192998 single base substitution G T missense_variant R251M 752G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-A5-A0G9-01 COSM1112204 c.668A>G p.K223R Substitution - Missense 23:102937986-102937986 + TCGA-HU-A4GN-01 COSM4105471 c.479A>T p.N160I Substitution - Missense 23:102937797-102937797 + TCGA-EE-A3J5-06 COSM3556079 c.813C>T p.T271T Substitution - coding silent 23:102938131-102938131 + 722_T COSM754875 c.503C>T p.T168M Substitution - Missense 23:102937821-102937821 + LUAD-D02085 COSM363496 c.618G>C p.V206V Substitution - coding silent 23:102937936-102937936 + SNUH_G76_S1 COSM4418440 c.447C>T p.G149G Substitution - coding silent 23:102937765-102937765 + PT17_1 COSM5899223 c.752G>A p.R251K Substitution - Missense 23:102938070-102938070 + TCGA-34-5232-01 COSM754876 c.503C>T p.T168M Substitution - Missense 23:102937821-102937821 + TCGA-D8-A1XQ-01 COSM3843066 c.679A>G p.M227V Substitution - Missense 23:102937997-102937997 + TCGA-BG-A0VV-01 COSM1112194 c.295C>T p.R99C Substitution - Missense 23:102937613-102937613 + TCGA-09-2051-01 COSM118081 c.564G>A p.K188K Substitution - coding silent 23:102937882-102937882 + TCGA-EE-A2GJ-06 COSM3556077 c.777C>T p.I259I Substitution - coding silent 23:102938095-102938095 + ESCC_154 COSM5645918 c.126G>A p.P42P Substitution - coding silent 23:102937444-102937444 + TCGA-13-0795-01 COSM81633 c.210G>T p.T70T Substitution - coding silent 23:102937528-102937528 + CSCC-56-T COSM4532145 c.185G>A p.R62Q Substitution - Missense 23:102937503-102937503 + 49M COSM5592797 c.51C>T p.F17F Substitution - coding silent 23:102937369-102937369 + YUBER COSM1715313 c.760C>T p.L254F Substitution - Missense 23:102938078-102938078 + TCGA-D1-A103-01 COSM754874 c.752G>T p.R251M Substitution - Missense 23:102938070-102938070 + 06-P2007 COSM1112205 c.709C>T p.R237* Substitution - Nonsense 23:102938027-102938027 + TCGA-C5-A7UH-01 COSM4856907 c.216G>C p.G72G Substitution - coding silent 23:102937534-102937534 + TCGA-GN-A266-06 COSM3556070 c.605C>T p.S202F Substitution - Missense 23:102937923-102937923 + TCGA-AR-A0TX-01 COSM456379 c.399G>C p.K133N Substitution - Missense 23:102937717-102937717 + T3182 COSM4719840 c.64G>A p.D22N Substitution - Missense 23:102937382-102937382 + TCGA-EB-A3Y6-01 COSM3556077 c.777C>T p.I259I Substitution - coding silent 23:102938095-102938095 + TCGA-D5-6928-01 COSM1464513 c.55C>T p.L19L Substitution - coding silent 23:102937373-102937373 + EGC15 COSM5064203 c.600C>T p.I200I Substitution - coding silent 23:102937918-102937918 + PAPNNX COSM5004777 c.639G>A p.P213P Substitution - coding silent 23:102937957-102937957 + TCGA-61-1915-01 COSM1331403 c.33C>T p.Y11Y Substitution - coding silent 23:102937351-102937351 + ESCC-F68 COSM5048312 c.601G>A p.V201M Substitution - Missense 23:102937919-102937919 + TCGA-13-0795-01 COSM76148 c.209C>T p.T70M Substitution - Missense 23:102937527-102937527 + TCGA-BS-A0TE-01 COSM1112206 c.709C>T p.R237* Substitution - Nonsense 23:102938027-102938027 + Pat_76_B COSM5876722 c.698C>T p.A233V Substitution - Missense 23:102938016-102938016 + LUAD-RT-S01840 COSM384864 c.427G>A p.A143T Substitution - Missense 23:102937745-102937745 + TCGA-AM-5820-01 COSM3694249 c.176A>G p.D59G Substitution - Missense 23:102937494-102937494 + TCGA-B5-A0K9-01 COSM1112202 c.502A>G p.T168A Substitution - Missense 23:102937820-102937820 + TCGA-CK-4951-01 COSM1464515 c.138delG p.G48fs*16 Deletion - Frameshift 23:102937456-102937456 + H2171 COSM314652 c.668A>T p.K223M Substitution - Missense 23:102937986-102937986 + ESCC_154 COSM5645917 c.126G>A p.P42P Substitution - coding silent 23:102937444-102937444 + TCGA-B5-A11E-01 COSM1112207 c.731C>T p.T244I Substitution - Missense 23:102938049-102938049 + TCGA-AA-3680-01 COSM293021 c.807C>T p.N269N Substitution - coding silent 23:102938125-102938125 + LUAD-S01413 COSM388329 c.220G>T p.G74* Substitution - Nonsense 23:102937538-102937538 + TCGA-AA-3680-01 COSM293022 c.807C>T p.N269N Substitution - coding silent 23:102938125-102938125 + TCGA-AR-A0TX-01 COSM456380 c.399G>C p.K133N Substitution - Missense 23:102937717-102937717 + S02384 COSM5698609 c.94G>C p.E32Q Substitution - Missense 23:102937412-102937412 + TCGA-FW-A3R5-06 COSM3556077 c.777C>T p.I259I Substitution - coding silent 23:102938095-102938095 + SNUH_G76_S1 COSM1464512 c.55C>T p.L19L Substitution - coding silent 23:102937373-102937373 + sysucc-1370T COSM5472797 c.596C>T p.T199I Substitution - Missense 23:102937914-102937914 + STC252 COSM76149 c.209C>T p.T70M Substitution - Missense 23:102937527-102937527 + TCGA-EK-A2R7-01 COSM4852125 c.645C>T p.P215P Substitution - coding silent 23:102937963-102937963 + TCGA-EE-A2A5-06 COSM3556074 c.771G>A p.V257V Substitution - coding silent 23:102938089-102938089 + SNUH_G76_S1 COSM4416682 c.84T>A p.S28R Substitution - Missense 23:102937402-102937402 + T3090 COSM4719844 c.809G>A p.C270Y Substitution - Missense 23:102938127-102938127 + TCGA-AX-A0J1-01 COSM1112197 c.408G>A p.V136V Substitution - coding silent 23:102937726-102937726 + TCGA-CK-4951-01 COSM1464514 c.138delG p.G48fs*16 Deletion - Frameshift 23:102937456-102937456 + TCGA-09-2051-01 COSM118082 c.564G>A p.K188K Substitution - coding silent 23:102937882-102937882 + LUAD-RT-S01840 COSM384865 c.427G>A p.A143T Substitution - Missense 23:102937745-102937745 + TCGA-B5-A0K9-01 COSM1112199 c.420G>T p.Q140H Substitution - Missense 23:102937738-102937738 + TCGA-FP-A4BE-01 COSM4105473 c.640C>T p.L214F Substitution - Missense 23:102937958-102937958 + T3182 COSM4719841 c.64G>A p.D22N Substitution - Missense 23:102937382-102937382 + TCGA-EE-A2A5-06 COSM3556075 c.771G>A p.V257V Substitution - coding silent 23:102938089-102938089 + STC252 COSM5064202 c.131G>A p.S44N Substitution - Missense 23:102937449-102937449 + TCGA-B5-A11E-01 COSM1112208 c.731C>T p.T244I Substitution - Missense 23:102938049-102938049 + TCGA-AG-A02X-01 COSM290698 c.710G>A p.R237Q Substitution - Missense 23:102938028-102938028 + TCGA-GN-A266-06 COSM3556071 c.605C>T p.S202F Substitution - Missense 23:102937923-102937923 + 06-P2007 COSM1112206 c.709C>T p.R237* Substitution - Nonsense 23:102938027-102938027 + TCGA-13-0795-01 COSM81634 c.210G>T p.T70T Substitution - coding silent 23:102937528-102937528 + TCGA-B5-A0K9-01 COSM1112200 c.420G>T p.Q140H Substitution - Missense 23:102937738-102937738 + SNUH_G76_S1 COSM4416914 c.69G>C p.R23S Substitution - Missense 23:102937387-102937387 + TCGA-AG-A02X-01 COSM290697 c.710G>A p.R237Q Substitution - Missense 23:102938028-102938028 + TCGA-AX-A0J1-01 COSM1112198 c.408G>A p.V136V Substitution - coding silent 23:102937726-102937726 + TCGA-13-0795-01 COSM76149 c.209C>T p.T70M Substitution - Missense 23:102937527-102937527 + TCGA-AP-A056-01 COSM1112196 c.307G>A p.E103K Substitution - Missense 23:102937625-102937625 + TCGA-BG-A0VV-01 COSM1112193 c.295C>T p.R99C Substitution - Missense 23:102937613-102937613 + 49M COSM5592798 c.51C>T p.F17F Substitution - coding silent 23:102937369-102937369 + TCGA-C5-A7UH-01 COSM4856906 c.216G>C p.G72G Substitution - coding silent 23:102937534-102937534 + PTC-1C COSM4156485 c.435C>T p.A145A Substitution - coding silent 23:102937753-102937753 + S02384 COSM5698610 c.94G>C p.E32Q Substitution - Missense 23:102937412-102937412 + TCGA-DM-A0X9-01 COSM1464516 c.161C>G p.T54S Substitution - Missense 23:102937479-102937479 + PDA_085 COSM5002745 c.505G>A p.E169K Substitution - Missense 23:102937823-102937823 + TCGA-AA-A02R-01 COSM5127734 c.805A>C p.N269H Substitution - Missense 23:102938123-102938123 + SNUH_G76_S1 COSM4418518 c.75A>G p.V25V Substitution - coding silent 23:102937393-102937393 + TCGA-D1-A103-01 COSM754873 c.752G>T p.R251M Substitution - Missense 23:102938070-102938070 + CSCC-10-T COSM4501180 c.582C>T p.D194D Substitution - coding silent 23:102937900-102937900 + TCGA-AM-5820-01 COSM3694248 c.176A>G p.D59G Substitution - Missense 23:102937494-102937494 + TCGA-EE-A3J5-06 COSM3556078 c.813C>T p.T271T Substitution - coding silent 23:102938131-102938131 + SNUH_G16_S1 COSM3681482 c.282C>T p.Y94Y Substitution - coding silent 23:102937600-102937600 + TCGA-A6-2672-01 COSM1464515 c.138delG p.G48fs*16 Deletion - Frameshift 23:102937456-102937456 + DN12102 COSM5962992 c.440G>A p.R147H Substitution - Missense 23:102937758-102937758 + TCGA-AA-A02R-01 COSM5127735 c.805A>C p.N269H Substitution - Missense 23:102938123-102938123 + TCGA-AA-3713-01 COSM1464515 c.138delG p.G48fs*16 Deletion - Frameshift 23:102937456-102937456 + 722_T COSM754876 c.503C>T p.T168M Substitution - Missense 23:102937821-102937821 + Pat_76_B COSM5876721 c.698C>T p.A233V Substitution - Missense 23:102938016-102938016 + ESCC-F68 COSM5048313 c.601G>A p.V201M Substitution - Missense 23:102937919-102937919 + H2171 COSM314653 c.668A>T p.K223M Substitution - Missense 23:102937986-102937986 + TCGA-A5-A0G9-01 COSM1112203 c.668A>G p.K223R Substitution - Missense 23:102937986-102937986 + TCGA-AM-5820-01 COSM3694251 c.177C>A p.D59E Substitution - Missense 23:102937495-102937495 + PTC-1C COSM4156486 c.435C>T p.A145A Substitution - coding silent 23:102937753-102937753 + TCGA-AP-A056-01 COSM1112195 c.307G>A p.E103K Substitution - Missense 23:102937625-102937625 + SNUH_G76_S1 COSM4417643 c.82A>G p.S28G Substitution - Missense 23:102937400-102937400 + TCGA-EK-A2R7-01 COSM4852124 c.645C>T p.P215P Substitution - coding silent 23:102937963-102937963 + SNUH_G76_S1 COSM4418517 c.75A>G p.V25V Substitution - coding silent 23:102937393-102937393 + PAPNNX COSM5004776 c.639G>A p.P213P Substitution - coding silent 23:102937957-102937957 + TCGA-EE-A2A1-06 COSM3556073 c.678C>T p.S226S Substitution - coding silent 23:102937996-102937996 + DN12102 COSM5962991 c.440G>A p.R147H Substitution - Missense 23:102937758-102937758 + BD72T COSM2734970 c.212C>T p.S71L Substitution - Missense 23:102937530-102937530 + Pat_06_B COSM5876719 c.529C>T p.R177W Substitution - Missense 23:102937847-102937847 + STC252 COSM5064201 c.131G>A p.S44N Substitution - Missense 23:102937449-102937449 + T578 COSM4719842 c.504G>A p.T168T Substitution - coding silent 23:102937822-102937822 + BD72T COSM2734971 c.212C>T p.S71L Substitution - Missense 23:102937530-102937530 + T3090 COSM4719845 c.809G>A p.C270Y Substitution - Missense 23:102938127-102938127 + TCGA-B5-A0K9-01 COSM1112201 c.502A>G p.T168A Substitution - Missense 23:102937820-102937820 + TCGA-EE-A2A1-06 COSM3556072 c.678C>T p.S226S Substitution - coding silent 23:102937996-102937996 + PT17_1 COSM5899224 c.752G>A p.R251K Substitution - Missense 23:102938070-102938070 + TCGA-FW-A3R5-06 COSM3556076 c.777C>T p.I259I Substitution - coding silent 23:102938095-102938095 + TCGA-A6-2672-01 COSM1464514 c.138delG p.G48fs*16 Deletion - Frameshift 23:102937456-102937456 + SNUH_G76_S1 COSM4418441 c.447C>T p.G149G Substitution - coding silent 23:102937765-102937765 + CSCC-10-T COSM4501179 c.582C>T p.D194D Substitution - coding silent 23:102937900-102937900 + SNUH_G76_S1 COSM4417644 c.82A>G p.S28G Substitution - Missense 23:102937400-102937400 + TCGA-HU-A4GN-01 COSM4105472 c.479A>T p.N160I Substitution - Missense 23:102937797-102937797 + T578 COSM4719843 c.504G>A p.T168T Substitution - coding silent 23:102937822-102937822 + TCGA-DM-A0X9-01 COSM1464517 c.161C>G p.T54S Substitution - Missense 23:102937479-102937479 + LUAD-S01413 COSM388328 c.220G>T p.G74* Substitution - Nonsense 23:102937538-102937538 + TCGA-B5-A0JY-01 COSM1112192 c.127T>C p.Y43H Substitution - Missense 23:102937445-102937445 + TCGA-EB-A3Y6-01 COSM3556076 c.777C>T p.I259I Substitution - coding silent 23:102938095-102938095 + Pat_06_B COSM5876720 c.529C>T p.R177W Substitution - Missense 23:102937847-102937847 + SNUH_G16_S1 COSM3681483 c.282C>T p.Y94Y Substitution - coding silent 23:102937600-102937600 + TCGA-B5-A0JY-01 COSM1112191 c.127T>C p.Y43H Substitution - Missense 23:102937445-102937445 + TCGA-FP-A4BE-01 COSM4105474 c.640C>T p.L214F Substitution - Missense 23:102937958-102937958 + TCGA-AM-5820-01 COSM3694250 c.177C>A p.D59E Substitution - Missense 23:102937495-102937495 + SNUH_G76_S1 COSM1464513 c.55C>T p.L19L Substitution - coding silent 23:102937373-102937373 + YUBER COSM1715312 c.760C>T p.L254F Substitution - Missense 23:102938078-102938078 + TCGA-34-5232-01 COSM754875 c.503C>T p.T168M Substitution - Missense 23:102937821-102937821 + TCGA-85-6561-01 COSM754874 c.752G>T p.R251M Substitution - Missense 23:102938070-102938070 + CSCC-56-T COSM4532146 c.185G>A p.R62Q Substitution - Missense 23:102937503-102937503 + TCGA-D5-6540-01 COSM1464518 c.184C>T p.R62W Substitution - Missense 23:102937502-102937502 + LUAD-D02085 COSM363497 c.618G>C p.V206V Substitution - coding silent 23:102937936-102937936 + TCGA-61-1915-01 COSM1331402 c.33C>T p.Y11Y Substitution - coding silent 23:102937351-102937351 + TCGA-D5-6928-01 COSM1464512 c.55C>T p.L19L Substitution - coding silent 23:102937373-102937373 + STC252 COSM76148 c.209C>T p.T70M Substitution - Missense 23:102937527-102937527 + TCGA-85-6561-01 COSM754873 c.752G>T p.R251M Substitution - Missense 23:102938070-102938070 + PDA_085 COSM5002744 c.505G>A p.E169K Substitution - Missense 23:102937823-102937823 + SNUH_G76_S1 COSM4416915 c.69G>C p.R23S Substitution - Missense 23:102937387-102937387 + TCGA-BS-A0TE-01 COSM1112205 c.709C>T p.R237* Substitution - Nonsense 23:102938027-102938027 + TCGA-D8-A1XQ-01 COSM3843067 c.679A>G p.M227V Substitution - Missense 23:102937997-102937997 + sysucc-1370T COSM5472796 c.596C>T p.T199I Substitution - Missense 23:102937914-102937914 + TCGA-D5-6540-01 COSM1464519 c.184C>T p.R62W Substitution - Missense 23:102937502-102937502 + TCGA-AA-3713-01 COSM1464514 c.138delG p.G48fs*16 Deletion - Frameshift 23:102937456-102937456 + TCGA-EE-A2GJ-06 COSM3556076 c.777C>T p.I259I Substitution - coding silent 23:102938095-102938095 + EGC15 COSM5064204 c.600C>T p.I200I Substitution - coding silent 23:102937918-102937918 + SNUH_G76_S1 COSM4416683 c.84T>A p.S28R Substitution - Missense 23:102937402-102937402 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.449517 Xq22.2 300405

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.T168A c.502A>G X 102192748 UCEC A T Missense p.Y43F c.128A>T X 102192374 LUAD C G Missense p.F161L c.483C>G X 102192729 HNSC C T Missense p.P213S c.637C>T X 102192883 CM C T Missense p.R99C c.295C>T X 102192541 UCEC C T Missense p.T168M c.503C>T X 102192749 LUSC C T Missense p.T70M c.209C>T X 102192455 OV C T Nonsense p.R237* c.709C>T X 102192955 UCEC C T Synonymous p.I259I c.777C>T X 102193023 CM C T Synonymous p.N269N c.807C>T X 102193053 COREAD C T Synonymous p.S226S c.678C>T X 102192924 CM C T Synonymous p.T271T c.813C>T X 102193059 CM G A Missense p.E40K c.118G>A X 102192364 ALL G A Missense p.R234K c.701G>A X 102192947 HNSC G A Missense p.R237Q c.710G>A X 102192956 COREAD G A Synonymous p.K188K c.564G>A X 102192810 OV G A Synonymous p.V257V c.771G>A X 102193017 CM G T Missense p.R251M c.752G>T X 102192998 LUSC G T Synonymous p.L208L c.624G>T X 102192870 LUAD G T Synonymous p.T70T c.210G>T X 102192456 OV T C CdsStopSNV . c.834T>C X 102193080 LUAD