Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 11 62444340 62444340 + Silent SNP G G A TCGA-XF-A9SV-01A-21D-A42E-08 TCGA-XF-A9SV-10A-01D-A42H-08 g.chr11:62444340G>A c.789C>T c.(787-789)ggC>ggT p.G263G BLCA 11 62444394 62444394 + Silent SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr11:62444394G>A c.735C>T c.(733-735)ctC>ctT p.L245L BLCA 11 62445439 62445439 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr11:62445439C>T c.442G>A c.(442-444)Gag>Aag p.E148K CESC 11 62444225 62444225 + Intron SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 g.chr11:62444225C>T COAD 11 62445505 62445505 + Missense_Mutation SNP T T C TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr11:62445505T>C c.376A>G c.(376-378)Aga>Gga p.R126G COAD 11 62445515 62445515 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr11:62445515C>T c.366G>A c.(364-366)cgG>cgA p.R122R COADREAD 11 62445505 62445505 + Missense_Mutation SNP T T C TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr11:62445505T>C c.376A>G c.(376-378)Aga>Gga p.R126G COADREAD 11 62445515 62445515 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr11:62445515C>T c.366G>A c.(364-366)cgG>cgA p.R122R ESCA 11 62444460 62444460 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 g.chr11:62444460C>T c.669G>A c.(667-669)ggG>ggA p.G223G GBMLGG 11 62445254 62445254 + Splice_Site SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:62445254T>A c.533A>T c.(532-534)aAg>aTg p.K178M HNSC 11 62444320 62444320 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr11:62444320G>C c.809C>G c.(808-810)tCa>tGa p.S270* HNSC 11 62445293 62445293 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr11:62445293C>T c.494G>A c.(493-495)aGa>aAa p.R165K HNSC 11 62445536 62445536 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr11:62445536C>T c.345G>A c.(343-345)cgG>cgA p.R115R LGG 11 62445254 62445254 + Splice_Site SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:62445254T>A c.533A>T c.(532-534)aAg>aTg p.K178M LIHC 11 62445539 62445539 + Frame_Shift_Del DEL T T - TCGA-DD-A4NK-01A-11D-A28X-10 TCGA-DD-A4NK-10A-01D-A28X-10 g.chr11:62445539delT c.342delA c.(340-342)gaafs p.E114fs LUAD 11 62444224 62444224 + Intron SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr11:62444224C>A LUAD 11 62444240 62444240 + Intron SNP T T A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr11:62444240T>A LUAD 11 62444254 62444254 + Intron SNP C C G TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr11:62444254C>G LUAD 11 62444306 62444306 + Missense_Mutation SNP C C G TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr11:62444306C>G c.823G>C c.(823-825)Gag>Cag p.E275Q LUAD 11 62444318 62444318 + Nonsense_Mutation SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr11:62444318C>A c.811G>T c.(811-813)Gaa>Taa p.E271* LUAD 11 62445299 62445299 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 g.chr11:62445299C>G c.488G>C c.(487-489)aGa>aCa p.R163T LUAD 11 62445448 62445448 + Missense_Mutation SNP G G A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr11:62445448G>A c.433C>T c.(433-435)Cgg>Tgg p.R145W LUAD 11 62445457 62445457 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 g.chr11:62445457C>T c.424G>A c.(424-426)Gag>Aag p.E142K LUAD 11 62445457 62445457 + Missense_Mutation SNP C C T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr11:62445457C>T c.424G>A c.(424-426)Gag>Aag p.E142K LUAD 11 62445970 62445970 + Missense_Mutation SNP C C G TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr11:62445970C>G c.217G>C c.(217-219)Gaa>Caa p.E73Q LUAD 11 62446030 62446030 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr11:62446030C>G c.157G>C c.(157-159)Gag>Cag p.E53Q LUAD 11 62446042 62446042 + Missense_Mutation SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr11:62446042C>A c.145G>T c.(145-147)Gac>Tac p.D49Y LUAD 11 62446048 62446048 + Missense_Mutation SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr11:62446048C>A c.139G>T c.(139-141)Gat>Tat p.D47Y LUAD 11 62446178 62446178 + Missense_Mutation SNP C C T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr11:62446178C>T c.97G>A c.(97-99)Gag>Aag p.E33K LUSC 11 62445480 62445480 + Missense_Mutation SNP G G A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 g.chr11:62445480G>A c.401C>T c.(400-402)gCa>gTa p.A134V OV 11 62444292 62444292 + Missense_Mutation SNP C C A TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 g.chr11:62444292C>A c.837G>T c.(835-837)caG>caT p.Q279H PAAD 11 62444433 62444433 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:62444433G>A c.696C>T c.(694-696)gcC>gcT p.A232A PRAD 11 62445452 62445452 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:62445452C>T c.429G>A c.(427-429)atG>atA p.M143I SARC 11 62445877 62445877 + Missense_Mutation SNP G G A TCGA-DX-A1KY-01A-11D-A24N-09 TCGA-DX-A1KY-10A-01D-A24N-09 g.chr11:62445877G>A c.224C>T c.(223-225)tCt>tTt p.S75F SKCM 11 62445419 62445419 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr11:62445419C>T c.462G>A c.(460-462)aaG>aaA p.K154K SKCM 11 62445872 62445872 + Missense_Mutation SNP A A T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr11:62445872A>T c.229T>A c.(229-231)Tct>Act p.S77T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 11 62439326 62439326 single base substitution G A downstream_gene_variant BLCA-US 11 62439585 62439585 single base substitution G A downstream_gene_variant BLCA-US 11 62444099 62444099 single base substitution G A 3_prime_UTR_variant BLCA-US 11 62444099 62444099 single base substitution G A downstream_gene_variant BLCA-US 11 62444099 62444099 single base substitution G A exon_variant BLCA-US 11 62444099 62444099 single base substitution G A missense_variant S282F 845C>T BLCA-US 11 62444099 62444099 single base substitution G A missense_variant S286F 857C>T BLCA-US 11 62444099 62444099 single base substitution G A synonymous_variant L80L 238C>T BRCA-EU 11 62439670 62439670 single base substitution A T downstream_gene_variant BRCA-EU 11 62439671 62439671 single base substitution G A downstream_gene_variant BRCA-EU 11 62442795 62442795 single base substitution C G downstream_gene_variant BRCA-EU 11 62445135 62445135 single base substitution G C downstream_gene_variant BRCA-EU 11 62445135 62445135 single base substitution G C exon_variant BRCA-EU 11 62445135 62445135 single base substitution G C intron_variant BRCA-EU 11 62445343 62445343 single base substitution C G downstream_gene_variant BRCA-EU 11 62445343 62445343 single base substitution C G exon_variant BRCA-EU 11 62445343 62445343 single base substitution C G intron_variant BRCA-EU 11 62445604 62445604 single base substitution G A downstream_gene_variant BRCA-EU 11 62445604 62445604 single base substitution G A exon_variant BRCA-EU 11 62445604 62445604 single base substitution G A intron_variant BRCA-EU 11 62445604 62445604 single base substitution G A upstream_gene_variant BRCA-EU 11 62448217 62448217 single base substitution G A upstream_gene_variant BRCA-EU 11 62448698 62448717 deletion of <=200bp CTACCCGGGCTGTTAGATTC - upstream_gene_variant BRCA-EU 11 62449542 62449542 single base substitution C A upstream_gene_variant BRCA-EU 11 62450404 62450404 single base substitution A G upstream_gene_variant BRCA-EU 11 62450627 62450627 single base substitution T G upstream_gene_variant BRCA-EU 11 62450958 62450958 single base substitution T A upstream_gene_variant BRCA-EU 11 62451227 62451227 single base substitution G T upstream_gene_variant BRCA-FR 11 62442795 62442795 single base substitution C G downstream_gene_variant BTCA-JP 11 62444330 62444330 single base substitution G A downstream_gene_variant BTCA-JP 11 62444330 62444330 single base substitution G A exon_variant BTCA-JP 11 62444330 62444330 single base substitution G A intron_variant BTCA-JP 11 62444330 62444330 single base substitution G A missense_variant R263W 787C>T BTCA-JP 11 62444330 62444330 single base substitution G A missense_variant R267W 799C>T CESC-US 11 62444225 62444225 single base substitution C T downstream_gene_variant CESC-US 11 62444225 62444225 single base substitution C T exon_variant CESC-US 11 62444225 62444225 single base substitution C T intron_variant CESC-US 11 62444225 62444225 single base substitution C T missense_variant G302R 904G>A COAD-US 11 62439425 62439425 single base substitution G T downstream_gene_variant COAD-US 11 62439538 62439538 single base substitution G A downstream_gene_variant COAD-US 11 62439569 62439569 single base substitution G A downstream_gene_variant COAD-US 11 62444228 62444228 single base substitution G A downstream_gene_variant COAD-US 11 62444228 62444228 single base substitution G A exon_variant COAD-US 11 62444228 62444228 single base substitution G A intron_variant COAD-US 11 62444228 62444228 single base substitution G A synonymous_variant L301L 901C>T COAD-US 11 62444389 62444389 single base substitution C T downstream_gene_variant COAD-US 11 62444389 62444389 single base substitution C T exon_variant COAD-US 11 62444389 62444389 single base substitution C T intron_variant COAD-US 11 62444389 62444389 single base substitution C T missense_variant R243H 728G>A COAD-US 11 62444389 62444389 single base substitution C T missense_variant R247H 740G>A COAD-US 11 62445515 62445515 single base substitution C T downstream_gene_variant COAD-US 11 62445515 62445515 single base substitution C T exon_variant COAD-US 11 62445515 62445515 single base substitution C T synonymous_variant R122R 366G>A COAD-US 11 62445515 62445515 single base substitution C T upstream_gene_variant COCA-CN 11 62439209 62439209 single base substitution C T downstream_gene_variant COCA-CN 11 62451013 62451013 single base substitution C T upstream_gene_variant ESAD-UK 11 62440069 62440069 single base substitution G C downstream_gene_variant ESAD-UK 11 62440070 62440070 single base substitution G T downstream_gene_variant ESAD-UK 11 62442810 62442810 insertion of <=200bp - G downstream_gene_variant ESAD-UK 11 62442929 62442929 single base substitution A T downstream_gene_variant ESAD-UK 11 62445448 62445448 single base substitution G A downstream_gene_variant ESAD-UK 11 62445448 62445448 single base substitution G A exon_variant ESAD-UK 11 62445448 62445448 single base substitution G A missense_variant R145W 433C>T ESAD-UK 11 62445448 62445448 single base substitution G A missense_variant R3W 7C>T ESAD-UK 11 62447243 62447243 single base substitution G A upstream_gene_variant LAML-KR 11 62445871 62445871 single base substitution G A downstream_gene_variant LAML-KR 11 62445871 62445871 single base substitution G A exon_variant LAML-KR 11 62445871 62445871 single base substitution G A missense_variant S77F 230C>T LAML-KR 11 62445871 62445871 single base substitution G A upstream_gene_variant LICA-FR 11 62439312 62439312 single base substitution A G downstream_gene_variant LICA-FR 11 62444305 62444305 single base substitution T A downstream_gene_variant LICA-FR 11 62444305 62444305 single base substitution T A exon_variant LICA-FR 11 62444305 62444305 single base substitution T A intron_variant LICA-FR 11 62444305 62444305 single base substitution T A missense_variant E271V 812A>T LICA-FR 11 62444305 62444305 single base substitution T A missense_variant E275V 824A>T LIHC-US 11 62445539 62445539 deletion of <=200bp T - downstream_gene_variant LIHC-US 11 62445539 62445539 deletion of <=200bp T - exon_variant LIHC-US 11 62445539 62445539 deletion of <=200bp T - frameshift_variant E114 LIHC-US 11 62445539 62445539 deletion of <=200bp T - upstream_gene_variant LIHC-US 11 62445985 62445985 single base substitution C A exon_variant LIHC-US 11 62445985 62445985 single base substitution C A stop_gained E68* 202G>T LIHC-US 11 62445985 62445985 single base substitution C A upstream_gene_variant LINC-JP 11 62443170 62443170 single base substitution A C downstream_gene_variant LINC-JP 11 62444159 62444159 single base substitution T G 3_prime_UTR_variant LINC-JP 11 62444159 62444159 single base substitution T G downstream_gene_variant LINC-JP 11 62444159 62444159 single base substitution T G exon_variant LINC-JP 11 62444159 62444159 single base substitution T G intron_variant LINC-JP 11 62444985 62444985 single base substitution A C downstream_gene_variant LINC-JP 11 62444985 62444985 single base substitution A C exon_variant LINC-JP 11 62444985 62444985 single base substitution A C splice_region_variant LINC-JP 11 62445052 62445052 single base substitution C G downstream_gene_variant LINC-JP 11 62445052 62445052 single base substitution C G exon_variant LINC-JP 11 62445052 62445052 single base substitution C G intron_variant LINC-JP 11 62445052 62445052 single base substitution C G missense_variant V193L 577G>C LINC-JP 11 62445052 62445052 single base substitution C G missense_variant V197L 589G>C LINC-JP 11 62445052 62445052 single base substitution C G missense_variant V55L 163G>C LINC-JP 11 62445167 62445167 single base substitution T C downstream_gene_variant LINC-JP 11 62445167 62445167 single base substitution T C exon_variant LINC-JP 11 62445167 62445167 single base substitution T C intron_variant LINC-JP 11 62448954 62448954 single base substitution C T upstream_gene_variant LIRI-JP 11 62440938 62440938 single base substitution A C downstream_gene_variant LIRI-JP 11 62441043 62441043 single base substitution C G downstream_gene_variant LUSC-KR 11 62448446 62448446 single base substitution G C upstream_gene_variant LUSC-KR 11 62448568 62448568 single base substitution G A upstream_gene_variant LUSC-KR 11 62449087 62449087 single base substitution C G upstream_gene_variant LUSC-US 11 62445480 62445480 single base substitution G A downstream_gene_variant LUSC-US 11 62445480 62445480 single base substitution G A exon_variant LUSC-US 11 62445480 62445480 single base substitution G A missense_variant A134V 401C>T LUSC-US 11 62445480 62445480 single base substitution G A upstream_gene_variant MALY-DE 11 62441328 62441328 deletion of <=200bp C - downstream_gene_variant MALY-DE 11 62444360 62444360 single base substitution G A downstream_gene_variant MALY-DE 11 62444360 62444360 single base substitution G A exon_variant MALY-DE 11 62444360 62444360 single base substitution G A intron_variant MALY-DE 11 62444360 62444360 single base substitution G A missense_variant P253S 757C>T MALY-DE 11 62444360 62444360 single base substitution G A missense_variant P257S 769C>T MALY-DE 11 62445041 62445041 single base substitution A G downstream_gene_variant MALY-DE 11 62445041 62445041 single base substitution A G exon_variant MALY-DE 11 62445041 62445041 single base substitution A G splice_region_variant MALY-DE 11 62445041 62445041 single base substitution A G synonymous_variant S196S 588T>C MALY-DE 11 62445041 62445041 single base substitution A G synonymous_variant S200S 600T>C MALY-DE 11 62445041 62445041 single base substitution A G synonymous_variant S58S 174T>C MALY-DE 11 62448318 62448318 single base substitution T G upstream_gene_variant MALY-DE 11 62448320 62448320 single base substitution T A upstream_gene_variant MALY-DE 11 62449565 62449565 insertion of <=200bp - T upstream_gene_variant MELA-AU 11 62439819 62439819 single base substitution A G downstream_gene_variant MELA-AU 11 62440166 62440166 single base substitution G A downstream_gene_variant MELA-AU 11 62440629 62440629 single base substitution A G downstream_gene_variant MELA-AU 11 62441301 62441301 single base substitution G A downstream_gene_variant MELA-AU 11 62441997 62441997 single base substitution A T downstream_gene_variant MELA-AU 11 62442392 62442392 single base substitution C T downstream_gene_variant MELA-AU 11 62443241 62443241 single base substitution A G downstream_gene_variant MELA-AU 11 62443307 62443307 single base substitution C T downstream_gene_variant MELA-AU 11 62443441 62443441 single base substitution G A downstream_gene_variant MELA-AU 11 62443998 62443998 single base substitution G A 3_prime_UTR_variant MELA-AU 11 62443998 62443998 single base substitution G A downstream_gene_variant MELA-AU 11 62443998 62443998 single base substitution G A exon_variant MELA-AU 11 62445679 62445679 single base substitution C A downstream_gene_variant MELA-AU 11 62445679 62445679 single base substitution C A exon_variant MELA-AU 11 62445679 62445679 single base substitution C A intron_variant MELA-AU 11 62445679 62445679 single base substitution C A upstream_gene_variant MELA-AU 11 62445718 62445718 single base substitution G A downstream_gene_variant MELA-AU 11 62445718 62445718 single base substitution G A exon_variant MELA-AU 11 62445718 62445718 single base substitution G A intron_variant MELA-AU 11 62445718 62445718 single base substitution G A upstream_gene_variant MELA-AU 11 62446562 62446562 single base substitution G A 5_prime_UTR_variant MELA-AU 11 62446562 62446562 single base substitution G A exon_variant MELA-AU 11 62446562 62446562 single base substitution G A upstream_gene_variant MELA-AU 11 62446597 62446597 single base substitution G A upstream_gene_variant MELA-AU 11 62446975 62446975 single base substitution C T upstream_gene_variant MELA-AU 11 62447548 62447548 single base substitution G A upstream_gene_variant MELA-AU 11 62447689 62447689 single base substitution T A upstream_gene_variant MELA-AU 11 62448335 62448335 single base substitution G A upstream_gene_variant MELA-AU 11 62449112 62449112 single base substitution G A upstream_gene_variant MELA-AU 11 62449652 62449652 single base substitution C T upstream_gene_variant MELA-AU 11 62449828 62449828 single base substitution C T upstream_gene_variant MELA-AU 11 62450945 62450945 single base substitution A G upstream_gene_variant MELA-AU 11 62451200 62451200 single base substitution C T upstream_gene_variant MELA-AU 11 62451300 62451300 single base substitution G A upstream_gene_variant PACA-AU 11 62441859 62441859 single base substitution G C downstream_gene_variant PACA-AU 11 62443318 62443318 single base substitution T C downstream_gene_variant PACA-AU 11 62444681 62444681 single base substitution G C downstream_gene_variant PACA-AU 11 62444681 62444681 single base substitution G C exon_variant PACA-AU 11 62444681 62444681 single base substitution G C intron_variant PACA-AU 11 62445234 62445234 single base substitution C T downstream_gene_variant PACA-AU 11 62445234 62445234 single base substitution C T exon_variant PACA-AU 11 62445234 62445234 single base substitution C T intron_variant PACA-AU 11 62445842 62445842 single base substitution T G downstream_gene_variant PACA-AU 11 62445842 62445842 single base substitution T G exon_variant PACA-AU 11 62445842 62445842 single base substitution T G missense_variant S87R 259A>C PACA-AU 11 62445842 62445842 single base substitution T G upstream_gene_variant PACA-AU 11 62448994 62448994 single base substitution C A upstream_gene_variant PACA-AU 11 62448995 62448995 single base substitution C G upstream_gene_variant PACA-AU 11 62450425 62450425 single base substitution G A upstream_gene_variant PACA-AU 11 62450567 62450567 single base substitution G A upstream_gene_variant PACA-AU 11 62450803 62450803 single base substitution A G upstream_gene_variant PACA-CA 11 62439801 62439801 single base substitution T A downstream_gene_variant PACA-CA 11 62440800 62440800 single base substitution A C downstream_gene_variant PACA-CA 11 62443154 62443154 single base substitution G A downstream_gene_variant PACA-CA 11 62443394 62443394 insertion of <=200bp - AATA downstream_gene_variant PACA-CA 11 62445910 62445910 single base substitution C A downstream_gene_variant PACA-CA 11 62445910 62445910 single base substitution C A exon_variant PACA-CA 11 62445910 62445910 single base substitution C A intron_variant PACA-CA 11 62445910 62445910 single base substitution C A upstream_gene_variant PBCA-DE 11 62443256 62443265 deletion of <=200bp ATTTCAAAAA - downstream_gene_variant PRAD-CA 11 62448547 62448547 single base substitution T C upstream_gene_variant PRAD-UK 11 62450495 62450495 single base substitution A G upstream_gene_variant READ-US 11 62444348 62444348 single base substitution G T downstream_gene_variant READ-US 11 62444348 62444348 single base substitution G T exon_variant READ-US 11 62444348 62444348 single base substitution G T intron_variant READ-US 11 62444348 62444348 single base substitution G T missense_variant L257I 769C>A READ-US 11 62444348 62444348 single base substitution G T missense_variant L261I 781C>A SKCA-BR 11 62439976 62439977 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 11 62441141 62441141 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 11 62441873 62441873 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 11 62444424 62444424 single base substitution C A downstream_gene_variant SKCA-BR 11 62444424 62444424 single base substitution C A exon_variant SKCA-BR 11 62444424 62444424 single base substitution C A intron_variant SKCA-BR 11 62444424 62444424 single base substitution C A missense_variant Q231H 693G>T SKCA-BR 11 62444424 62444424 single base substitution C A missense_variant Q235H 705G>T SKCA-BR 11 62445210 62445210 single base substitution A T downstream_gene_variant SKCA-BR 11 62445210 62445210 single base substitution A T exon_variant SKCA-BR 11 62445210 62445210 single base substitution A T intron_variant SKCA-BR 11 62445210 62445210 single base substitution A T splice_donor_variant SKCA-BR 11 62446914 62446914 single base substitution C G upstream_gene_variant SKCA-BR 11 62450161 62450182 deletion of <=200bp GAATTACAGGCGTGAGTGCTGT - upstream_gene_variant SKCA-BR 11 62450182 62450203 deletion of <=200bp TAATTACAGGCGTGAGTGCTGG - upstream_gene_variant SKCA-BR 11 62451507 62451508 deletion of <=200bp CT - upstream_gene_variant SKCM-US 11 62445419 62445419 single base substitution C T downstream_gene_variant SKCM-US 11 62445419 62445419 single base substitution C T exon_variant SKCM-US 11 62445419 62445419 single base substitution C T synonymous_variant K12K 36G>A SKCM-US 11 62445419 62445419 single base substitution C T synonymous_variant K154K 462G>A SKCM-US 11 62445468 62445468 deletion of <=200bp A - downstream_gene_variant SKCM-US 11 62445468 62445468 deletion of <=200bp A - exon_variant SKCM-US 11 62445468 62445468 deletion of <=200bp A - frameshift_variant L138 SKCM-US 11 62445468 62445468 deletion of <=200bp A - upstream_gene_variant SKCM-US 11 62445872 62445872 single base substitution A T downstream_gene_variant SKCM-US 11 62445872 62445872 single base substitution A T exon_variant SKCM-US 11 62445872 62445872 single base substitution A T missense_variant S77T 229T>A SKCM-US 11 62445872 62445872 single base substitution A T upstream_gene_variant STAD-US 11 62439509 62439509 single base substitution A G downstream_gene_variant STAD-US 11 62445075 62445075 deletion of <=200bp G - downstream_gene_variant STAD-US 11 62445075 62445075 deletion of <=200bp G - exon_variant STAD-US 11 62445075 62445075 deletion of <=200bp G - frameshift_variant P185 STAD-US 11 62445075 62445075 deletion of <=200bp G - frameshift_variant P189 STAD-US 11 62445075 62445075 deletion of <=200bp G - frameshift_variant P47 STAD-US 11 62445075 62445075 deletion of <=200bp G - intron_variant STAD-US 11 62445429 62445429 single base substitution C T downstream_gene_variant STAD-US 11 62445429 62445429 single base substitution C T exon_variant STAD-US 11 62445429 62445429 single base substitution C T missense_variant R151Q 452G>A STAD-US 11 62445429 62445429 single base substitution C T missense_variant R9Q 26G>A STAD-US 11 62445451 62445451 single base substitution G A downstream_gene_variant STAD-US 11 62445451 62445451 single base substitution G A exon_variant STAD-US 11 62445451 62445451 single base substitution G A missense_variant R144C 430C>T STAD-US 11 62445451 62445451 single base substitution G A missense_variant R2C 4C>T STAD-US 11 62445472 62445472 single base substitution G A downstream_gene_variant STAD-US 11 62445472 62445472 single base substitution G A exon_variant STAD-US 11 62445472 62445472 single base substitution G A missense_variant R137W 409C>T STAD-US 11 62445472 62445472 single base substitution G A upstream_gene_variant STAD-US 11 62446025 62446025 single base substitution A G exon_variant STAD-US 11 62446025 62446025 single base substitution A G synonymous_variant T54T 162T>C STAD-US 11 62446025 62446025 single base substitution A G upstream_gene_variant THCA-SA 11 62439532 62439532 single base substitution G A downstream_gene_variant UCEC-US 11 62445053 62445053 single base substitution A C downstream_gene_variant UCEC-US 11 62445053 62445053 single base substitution A C exon_variant UCEC-US 11 62445053 62445053 single base substitution A C intron_variant UCEC-US 11 62445053 62445053 single base substitution A C synonymous_variant P192P 576T>G UCEC-US 11 62445053 62445053 single base substitution A C synonymous_variant P196P 588T>G UCEC-US 11 62445053 62445053 single base substitution A C synonymous_variant P54P 162T>G UCEC-US 11 62445741 62445741 single base substitution C T downstream_gene_variant UCEC-US 11 62445741 62445741 single base substitution C T exon_variant UCEC-US 11 62445741 62445741 single base substitution C T intron_variant UCEC-US 11 62445741 62445741 single base substitution C T upstream_gene_variant UCEC-US 11 62445826 62445826 single base substitution T C downstream_gene_variant UCEC-US 11 62445826 62445826 single base substitution T C exon_variant UCEC-US 11 62445826 62445826 single base substitution T C missense_variant Q92R 275A>G UCEC-US 11 62445826 62445826 single base substitution T C upstream_gene_variant UCEC-US 11 62445882 62445882 single base substitution T C downstream_gene_variant UCEC-US 11 62445882 62445882 single base substitution T C exon_variant UCEC-US 11 62445882 62445882 single base substitution T C splice_acceptor_variant UCEC-US 11 62445882 62445882 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D1-A174-01 COSM929781 c.536A>G p.Y179C Substitution - Missense 11:62677633-62677633 - CN-AML-08-T COSM2039433 c.230C>T p.S77F Substitution - Missense 11:62678399-62678399 - TCGA-BR-A4CS-01 COSM4034855 c.409C>T p.R137W Substitution - Missense 11:62678000-62678000 - Gp2D COSM2039422 c.618C>T p.P206P Substitution - coding silent 11:62677551-62677551 - 8035633 COSM4946647 c.259A>C p.S87R Substitution - Missense 11:62678370-62678370 - H1299 COSM1193476 c.748G>A p.E250K Substitution - Missense 11:62676909-62676909 - 24 COSM4777909 c.583G>T p.G195C Substitution - Missense 11:62677586-62677586 - HCC24T COSM1604917 c.589G>C p.V197L Substitution - Missense 11:62677580-62677580 - TCGA-BR-4201-01 COSM4034857 c.162T>C p.T54T Substitution - coding silent 11:62678553-62678553 - Pat_63_B COSM5839078 c.114G>A p.W38* Substitution - Nonsense 11:62678601-62678601 - BD72T COSM5512796 c.799C>T p.R267W Substitution - Missense 11:62676858-62676858 - NB1488 COSM5703365 c.710C>T p.A237V Substitution - Missense 11:62676947-62676947 - KM12 COSM2039420 c.810A>G p.S270S Substitution - coding silent 11:62676847-62676847 - HX28T COSM1604917 c.589G>C p.V197L Substitution - Missense 11:62677580-62677580 - PM-1 COSM5620143 c.28C>T p.L10F Substitution - Missense 11:62678896-62678896 - TCGA-EI-6917-01 COSM3416071 c.781C>A p.L261I Substitution - Missense 11:62676876-62676876 - ML_77_T_01 COSM5034036 c.705G>T p.Q235H Substitution - Missense 11:62676952-62676952 - ESCC_5 COSM5623097 c.209G>A p.G70D Substitution - Missense 11:62678506-62678506 - TCGA-BR-8487-01 COSM4034852 c.452G>A p.R151Q Substitution - Missense 11:62677957-62677957 - TCGA-EE-A29N-06 COSM3451063 c.229T>A p.S77T Substitution - Missense 11:62678400-62678400 - CN-AML-08-T COSM4198984 c.230C>T p.S77F Substitution - Missense 11:62678399-62678399 - TCGA-CG-5733-01 COSM4034854 c.430C>T p.R144C Substitution - Missense 11:62677979-62677979 - TCGA-D1-A17H-01 COSM4872065 c.588T>G p.P196P Substitution - coding silent 11:62677581-62677581 - TCGA-EJ-7123-01 COSM3670837 c.904G>T p.G302* Substitution - Nonsense 11:62676753-62676753 - Pat_45_A COSM5839074 c.860C>T p.A287V Substitution - Missense 11:62676624-62676624 - T3021 COSM4738974 c.397G>A p.A133T Substitution - Missense 11:62678012-62678012 - Pat_06_A COSM5839075 c.745delG p.E249fs*3 Deletion - Frameshift 11:62676912-62676912 - HCC24 COSM1604917 c.589G>C p.V197L Substitution - Missense 11:62677580-62677580 - TCGA-61-1722-01 COSM1322294 c.837G>T p.Q279H Substitution - Missense 11:62676820-62676820 - ESCC_5 COSM5623098 c.209G>A p.G70D Substitution - Missense 11:62678506-62678506 - LIM2551 COSM4034853 c.452G>A p.R151Q Substitution - Missense 11:62677957-62677957 - TCGA-D1-A17U-01 COSM4868303 c.275A>G p.Q92R Substitution - Missense 11:62678354-62678354 - HCC97T COSM4781385 c.651+5T>G p.? Unknown 11:62677513-62677513 - Pat_06_A COSM5839076 c.745delG p.E249fs*3 Deletion - Frameshift 11:62676912-62676912 - LUAD-B01970 COSM355983 c.597T>G p.S199S Substitution - coding silent 11:62677572-62677572 - TCGA-CG-5733-01 COSM929782 c.430C>T p.R144C Substitution - Missense 11:62677979-62677979 - TCGA-BS-A0U8-01 COSM929784 c.221-2A>G p.? Unknown 11:62678410-62678410 - TCGA-AM-5820-01 COSM3687444 c.901C>T p.L301L Substitution - coding silent 11:62676756-62676756 - SC_9022 COSM5552826 c.420A>T p.E140D Substitution - Missense 11:62677989-62677989 - TCGA-D1-A17U-01 COSM929783 c.275A>G p.Q92R Substitution - Missense 11:62678354-62678354 - TCGA-G4-6628-01 COSM3687445 c.740G>A p.R247H Substitution - Missense 11:62676917-62676917 - HCC97 COSM1604916 c.651+5T>G p.? Unknown 11:62677513-62677513 - 8035633 COSM3383662 c.259A>C p.S87R Substitution - Missense 11:62678370-62678370 - TCGA-ER-A3PL-06 COSM3451062 c.462G>A p.K154K Substitution - coding silent 11:62677947-62677947 - HX28T COSM4781397 c.589G>C p.V197L Substitution - Missense 11:62677580-62677580 - TCGA-BR-8487-01 COSM4034853 c.452G>A p.R151Q Substitution - Missense 11:62677957-62677957 - TCGA-EE-A29N-06 COSM4892360 c.229T>A p.S77T Substitution - Missense 11:62678400-62678400 - CHC1763T COSM4789650 c.824A>T p.E275V Substitution - Missense 11:62676833-62676833 - YUPAT COSM1704152 c.455G>A p.R152K Substitution - Missense 11:62677954-62677954 - TCGA-DK-A3IU-01 COSM3791714 c.857C>T p.S286F Substitution - Missense 11:62676627-62676627 - BD72T COSM5512797 c.799C>T p.R267W Substitution - Missense 11:62676858-62676858 - MOLT-4 COSM1676112 c.462G>T p.K154N Substitution - Missense 11:62677947-62677947 - 24 COSM4777910 c.583G>T p.G195C Substitution - Missense 11:62677586-62677586 - HCC24T COSM4781397 c.589G>C p.V197L Substitution - Missense 11:62677580-62677580 - Gp5D COSM4198971 c.618C>T p.P206P Substitution - coding silent 11:62677551-62677551 - Pat_26_A COSM5188661 c.461delA p.K154fs*5 Deletion - Frameshift 11:62677948-62677948 - TCGA-70-6723-01 COSM4862068 c.401C>T p.A134V Substitution - Missense 11:62678008-62678008 - CN-AML-NR-08-Dx COSM2039433 c.230C>T p.S77F Substitution - Missense 11:62678399-62678399 - CHC1763T COSM4789649 c.824A>T p.E275V Substitution - Missense 11:62676833-62676833 - TCGA-BS-A0UL-01 COSM929782 c.430C>T p.R144C Substitution - Missense 11:62677979-62677979 - T3021 COSM4738975 c.397G>A p.A133T Substitution - Missense 11:62678012-62678012 - Pat_26_A COSM5188662 c.461delA p.K154fs*5 Deletion - Frameshift 11:62677948-62677948 - HCC97T COSM1604916 c.651+5T>G p.? Unknown 11:62677513-62677513 - CHC1763T COSM4789650 c.824A>T p.E275V Substitution - Missense 11:62676833-62676833 - CN-AML-NR-08-Dx COSM4198984 c.230C>T p.S77F Substitution - Missense 11:62678399-62678399 - ML_77_T_01 COSM5034037 c.705G>T p.Q235H Substitution - Missense 11:62676952-62676952 - NB1488 COSM5703364 c.710C>T p.A237V Substitution - Missense 11:62676947-62676947 - CHC1763T COSM4789649 c.824A>T p.E275V Substitution - Missense 11:62676833-62676833 - SC_9022 COSM5552825 c.420A>T p.E140D Substitution - Missense 11:62677989-62677989 - TCGA-BS-A0U8-01 COSM4870741 c.221-2A>G p.? Unknown 11:62678410-62678410 - MOLT-4 COSM1676111 c.733C>T p.L245F Substitution - Missense 11:62676924-62676924 - TCGA-BR-A4CS-01 COSM4034856 c.409C>T p.R137W Substitution - Missense 11:62678000-62678000 - TCGA-BC-A69H-01 COSM4918972 c.202G>T p.E68* Substitution - Nonsense 11:62678513-62678513 - LIM2551 COSM4034852 c.452G>A p.R151Q Substitution - Missense 11:62677957-62677957 - TCGA-70-6723-01 COSM689861 c.401C>T p.A134V Substitution - Missense 11:62678008-62678008 - PM-1 COSM5620144 c.28C>T p.L10F Substitution - Missense 11:62678896-62678896 - H1155 COSM1195158 c.236C>T p.A79V Substitution - Missense 11:62678393-62678393 - TCGA-EI-6917-01 COSM4782570 c.781C>A p.L261I Substitution - Missense 11:62676876-62676876 - TCGA-BR-4201-01 COSM4034858 c.162T>C p.T54T Substitution - coding silent 11:62678553-62678553 - TCGA-D1-A17H-01 COSM929780 c.588T>G p.P196P Substitution - coding silent 11:62677581-62677581 - KM12 COSM4198967 c.810A>G p.S270S Substitution - coding silent 11:62676847-62676847 - Pat_63_B COSM5839077 c.114G>A p.W38* Substitution - Nonsense 11:62678601-62678601 - TCGA-BC-A69H-01 COSM4918973 c.202G>T p.E68* Substitution - Nonsense 11:62678513-62678513 - TCGA-ER-A3PL-06 COSM4899414 c.462G>A p.K154K Substitution - coding silent 11:62677947-62677947 - Gp2D COSM4198971 c.618C>T p.P206P Substitution - coding silent 11:62677551-62677551 - TCGA-G4-6628-01 COSM4783823 c.740G>A p.R247H Substitution - Missense 11:62676917-62676917 - TCGA-DG-A2KM-01 COSM4851655 c.904G>A p.G302R Substitution - Missense 11:62676753-62676753 - TCGA-CM-6162-01 COSM1355446 c.366G>A p.R122R Substitution - coding silent 11:62678043-62678043 - Gp5D COSM2039422 c.618C>T p.P206P Substitution - coding silent 11:62677551-62677551 - TCGA-CM-6162-01 COSM4949170 c.366G>A p.R122R Substitution - coding silent 11:62678043-62678043 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.351296 11q12.3 1524919|dbSNP|BC000902|C/T|coding|Cys214Cys|774|Validated; 1524919|dbSNP|BC001372|C/T|coding|Cys214Cys|773|Validated; 1524919|dbSNP|BC040129|C/T|coding|Cys214Cys|810|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P196P c.588T>G 11 62445053 UCEC A - Frameshift p.L138Hfs*21 c.413delT 11 62445468 CM A G Synonymous p.T54T c.162T>C 11 62446025 STAD AGT - SpliceDonorDeletion . c.110_112delACT 11 62446163 STAD A T 3-UTRSNV . c.936+109T>A 11 62444084 MM A T Missense p.S77T c.229T>A 11 62445872 CM C A Missense p.D47Y c.139G>T 11 62446048 LUAD C A Missense p.D49Y c.145G>T 11 62446042 LUAD C A Nonsense p.E271* c.811G>T 11 62444318 LUAD C G IntronicSNV . c.291-69G>C 11 62445659 CM C G Missense p.E275Q c.823G>C 11 62444306 LUAD C G Missense p.E73Q c.217G>C 11 62445970 LUAD C G Missense p.R209P c.626G>C 11 62445015 CM C T Missense p.E142K c.424G>A 11 62445457 LUAD C T Missense p.E33K c.97G>A 11 62446178 LUAD C T Missense p.R165K c.494G>A 11 62445293 HNSC C T Synonymous p.R115R c.345G>A 11 62445536 HNSC G A 3-UTRSNV . c.936+94C>T 11 62444099 BLCA G A Missense p.A134V c.401C>T 11 62445480 LUSC G A Missense p.R144C c.430C>T 11 62445451 STAD G A Missense p.R145W c.433C>T 11 62445448 LUAD G T IntronicSNV . c.220+3C>A 11 62445964 CM T C Missense p.Q92R c.275A>G 11 62445826 UCEC T C SpliceAcceptorSNV . c.221-2A>G 11 62445882 UCEC