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 1 11716154 11716154 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr1:11716154G>T c.262G>T c.(262-264)Gaa>Taa p.E88* BLCA 1 11718647 11718647 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr1:11718647G>A c.450G>A c.(448-450)ctG>ctA p.L150L BLCA 1 11721281 11721282 + Frame_Shift_Ins INS - - C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 g.chr1:11721281_11721282insC c.719_720insC c.(718-723)ggcccgfs p.GP240fs BRCA 1 11718332 11718332 + Nonsense_Mutation SNP G G T TCGA-BH-A0BL-01A-11D-A10Y-09 TCGA-BH-A0BL-11A-12D-A10Y-09 g.chr1:11718332G>T c.274G>T c.(274-276)Gag>Tag p.E92* BRCA 1 11718395 11718396 + Frame_Shift_Ins INS - - T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 g.chr1:11718395_11718396insT c.337_338insT c.(337-339)cagfs p.Q113fs BRCA 1 11718651 11718651 + Missense_Mutation SNP G G A TCGA-BH-A1EW-01A-11D-A135-09 TCGA-BH-A1EW-11B-33D-A135-09 g.chr1:11718651G>A c.454G>A c.(454-456)Gat>Aat p.D152N COAD 1 11715921 11715921 + Missense_Mutation SNP C C A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr1:11715921C>A c.29C>A c.(28-30)cCc>cAc p.P10H COAD 1 11716037 11716037 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:11716037C>T c.145C>T c.(145-147)Cgc>Tgc p.R49C COADREAD 1 11715921 11715921 + Missense_Mutation SNP C C A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr1:11715921C>A c.29C>A c.(28-30)cCc>cAc p.P10H COADREAD 1 11716037 11716037 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:11716037C>T c.145C>T c.(145-147)Cgc>Tgc p.R49C COADREAD 1 11718862 11718862 + Silent SNP G G A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr1:11718862G>A c.558G>A c.(556-558)gcG>gcA p.A186A DLBC 1 11718859 11718859 + Silent SNP C C T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr1:11718859C>T c.555C>T c.(553-555)caC>caT p.H185H DLBC 1 11721321 11721321 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:11721321G>A c.759G>A c.(757-759)ccG>ccA p.P253P GBM 1 11716011 11716011 + Missense_Mutation SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr1:11716011T>C c.119T>C c.(118-120)cTc>cCc p.L40P GBMLGG 1 11715984 11715984 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:11715984G>A c.92G>A c.(91-93)cGc>cAc p.R31H GBMLGG 1 11716011 11716011 + Missense_Mutation SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr1:11716011T>C c.119T>C c.(118-120)cTc>cCc p.L40P GBMLGG 1 11718910 11718910 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:11718910C>T c.606C>T c.(604-606)agC>agT p.S202S HNSC 1 11716049 11716049 + Nonsense_Mutation SNP C C T TCGA-CV-A463-01A-11D-A25Y-08 TCGA-CV-A463-10A-01D-A25Y-08 g.chr1:11716049C>T c.157C>T c.(157-159)Cga>Tga p.R53* HNSC 1 11716069 11716069 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr1:11716069G>A c.177G>A c.(175-177)gaG>gaA p.E59E HNSC 1 11718436 11718436 + Silent SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 g.chr1:11718436C>T c.378C>T c.(376-378)ttC>ttT p.F126F HNSC 1 11718437 11718437 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:11718437G>A c.379G>A c.(379-381)Gtt>Att p.V127I HNSC 1 11718444 11718444 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 g.chr1:11718444C>T c.386C>T c.(385-387)tCa>tTa p.S129L HNSC 1 11718615 11718615 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 g.chr1:11718615G>A c.418G>A c.(418-420)Gac>Aac p.D140N LGG 1 11715984 11715984 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:11715984G>A c.92G>A c.(91-93)cGc>cAc p.R31H LGG 1 11718910 11718910 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:11718910C>T c.606C>T c.(604-606)agC>agT p.S202S LIHC 1 11718615 11718615 + Missense_Mutation SNP G G A TCGA-RC-A6M4-01A-11D-A32G-10 TCGA-RC-A6M4-10A-01D-A32G-10 g.chr1:11718615G>A c.418G>A c.(418-420)Gac>Aac p.D140N LIHC 1 11721248 11721248 + Missense_Mutation SNP G G A TCGA-DD-AAW0-01A-11D-A40R-10 TCGA-DD-AAW0-10A-01D-A40U-10 g.chr1:11721248G>A c.686G>A c.(685-687)gGc>gAc p.G229D LUAD 1 11716117 11716117 + Silent SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 g.chr1:11716117G>A c.225G>A c.(223-225)cgG>cgA p.R75R LUAD 1 11718337 11718337 + Silent SNP C C T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr1:11718337C>T c.279C>T c.(277-279)ttC>ttT p.F93F LUAD 1 11718921 11718921 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr1:11718921G>T c.617G>T c.(616-618)tGg>tTg p.W206L LUSC 1 11721284 11721284 + Missense_Mutation SNP C C T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr1:11721284C>T c.722C>T c.(721-723)cCg>cTg p.P241L LUSC 1 11721303 11721303 + Silent SNP C C T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr1:11721303C>T c.741C>T c.(739-741)agC>agT p.S247S OV 1 11718362 11718362 + Missense_Mutation SNP G G A TCGA-24-1474-01A-01W-0551-08 TCGA-24-1474-10A-01W-0551-08 g.chr1:11718362G>A c.304G>A c.(304-306)Gat>Aat p.D102N PAAD 1 11716084 11716084 + Silent SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 g.chr1:11716084C>T c.192C>T c.(190-192)ccC>ccT p.P64P PAAD 1 11718605 11718605 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:11718605C>A c.408C>A c.(406-408)tcC>tcA p.S136S PRAD 1 11721246 11721246 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:11721246C>T c.684C>T c.(682-684)ggC>ggT p.G228G READ 1 11718862 11718862 + Silent SNP G G A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr1:11718862G>A c.558G>A c.(556-558)gcG>gcA p.A186A SKCM 1 11716079 11716079 + Nonsense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:11716079C>T c.187C>T c.(187-189)Cag>Tag p.Q63* SKCM 1 11718436 11718436 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:11718436C>T c.378C>T c.(376-378)ttC>ttT p.F126F SKCM 1 11718602 11718602 + Silent SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr1:11718602G>A c.405G>A c.(403-405)aaG>aaA p.K135K SKCM 1 11718796 11718796 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr1:11718796C>T c.492C>T c.(490-492)ttC>ttT p.F164F

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 1 11715985 11715985 single base substitution C T synonymous_variant R31R 93C>T BLCA-CN 1 11715985 11715985 single base substitution C T upstream_gene_variant BLCA-CN 1 11715998 11715998 single base substitution C T missense_variant L36F 106C>T BLCA-CN 1 11715998 11715998 single base substitution C T upstream_gene_variant BLCA-US 1 11721281 11721281 insertion of <=200bp - C downstream_gene_variant BLCA-US 1 11721281 11721281 insertion of <=200bp - C frameshift_variant G240A? BLCA-US 1 11721281 11721281 insertion of <=200bp - C frameshift_variant R106R? BLCA-US 1 11721281 11721281 insertion of <=200bp - C frameshift_variant R121R? BLCA-US 1 11721281 11721281 insertion of <=200bp - C frameshift_variant R198R? BLCA-US 1 11721281 11721281 insertion of <=200bp - C frameshift_variant R230R? BRCA-EU 1 11710797 11710797 single base substitution C G upstream_gene_variant BRCA-EU 1 11714101 11714101 single base substitution G C upstream_gene_variant BRCA-EU 1 11715426 11715428 deletion of <=200bp AGC - 5_prime_UTR_variant BRCA-EU 1 11715426 11715428 deletion of <=200bp AGC - intron_variant BRCA-EU 1 11715426 11715428 deletion of <=200bp AGC - upstream_gene_variant BRCA-EU 1 11716866 11716866 single base substitution G A intron_variant BRCA-EU 1 11716866 11716866 single base substitution G A upstream_gene_variant BRCA-EU 1 11717894 11717894 single base substitution A C intron_variant BRCA-EU 1 11717894 11717894 single base substitution A C upstream_gene_variant BRCA-EU 1 11719148 11719148 single base substitution A G downstream_gene_variant BRCA-EU 1 11719148 11719148 single base substitution A G intron_variant BRCA-EU 1 11721934 11721934 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 11721934 11721934 single base substitution G T downstream_gene_variant BRCA-EU 1 11721934 11721934 single base substitution G T intron_variant BRCA-EU 1 11721979 11721979 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 11721979 11721979 single base substitution G T downstream_gene_variant BRCA-EU 1 11721979 11721979 single base substitution G T intron_variant BRCA-EU 1 11727059 11727059 single base substitution C T downstream_gene_variant BRCA-FR 1 11709924 11709924 single base substitution G A upstream_gene_variant BRCA-FR 1 11721979 11721979 single base substitution G T 3_prime_UTR_variant BRCA-FR 1 11721979 11721979 single base substitution G T downstream_gene_variant BRCA-FR 1 11721979 11721979 single base substitution G T intron_variant BRCA-US 1 11709979 11709979 single base substitution C A upstream_gene_variant BRCA-US 1 11718332 11718332 single base substitution G T stop_gained E15* 43G>T BRCA-US 1 11718332 11718332 single base substitution G T stop_gained E92* 274G>T BRCA-US 1 11718332 11718332 single base substitution G T upstream_gene_variant BRCA-US 1 11718395 11718395 insertion of <=200bp - T frameshift_variant Q113S? BRCA-US 1 11718395 11718395 insertion of <=200bp - T frameshift_variant Q36S? BRCA-US 1 11718395 11718395 insertion of <=200bp - T upstream_gene_variant BRCA-US 1 11718651 11718651 single base substitution G A intron_variant BRCA-US 1 11718651 11718651 single base substitution G A missense_variant D152N 454G>A BRCA-US 1 11718651 11718651 single base substitution G A missense_variant G142E 425G>A BRCA-US 1 11718651 11718651 single base substitution G A missense_variant G18E 53G>A BTCA-JP 1 11710791 11710791 single base substitution C G upstream_gene_variant BTCA-JP 1 11710798 11710798 single base substitution T G upstream_gene_variant BTCA-JP 1 11718227 11718227 single base substitution G A intron_variant BTCA-JP 1 11718227 11718227 single base substitution G A upstream_gene_variant CLLE-ES 1 11724185 11724185 single base substitution G T downstream_gene_variant COAD-US 1 11709918 11709918 insertion of <=200bp - T upstream_gene_variant COAD-US 1 11710561 11710561 single base substitution T G upstream_gene_variant COAD-US 1 11710779 11710779 insertion of <=200bp - GCG upstream_gene_variant COAD-US 1 11715921 11715921 single base substitution C A missense_variant P10H 29C>A COAD-US 1 11715921 11715921 single base substitution C A upstream_gene_variant COCA-CN 1 11710556 11710556 single base substitution G T upstream_gene_variant COCA-CN 1 11718436 11718436 single base substitution C T intron_variant COCA-CN 1 11718436 11718436 single base substitution C T synonymous_variant F126F 378C>T COCA-CN 1 11718436 11718436 single base substitution C T upstream_gene_variant COCA-CN 1 11721463 11721463 single base substitution T G 3_prime_UTR_variant COCA-CN 1 11721463 11721463 single base substitution T G downstream_gene_variant COCA-CN 1 11721463 11721463 single base substitution T G intron_variant ESAD-UK 1 11711288 11711288 single base substitution C T upstream_gene_variant ESAD-UK 1 11712582 11712582 single base substitution G A upstream_gene_variant ESAD-UK 1 11714193 11714193 single base substitution C T upstream_gene_variant ESAD-UK 1 11716172 11716172 single base substitution G A intron_variant ESAD-UK 1 11716172 11716172 single base substitution G A upstream_gene_variant ESAD-UK 1 11717910 11717910 single base substitution T G intron_variant ESAD-UK 1 11717910 11717910 single base substitution T G upstream_gene_variant ESAD-UK 1 11717931 11717931 single base substitution C T intron_variant ESAD-UK 1 11717931 11717931 single base substitution C T upstream_gene_variant ESAD-UK 1 11718362 11718362 single base substitution G A missense_variant D102N 304G>A ESAD-UK 1 11718362 11718362 single base substitution G A missense_variant D25N 73G>A ESAD-UK 1 11718362 11718362 single base substitution G A upstream_gene_variant ESAD-UK 1 11718854 11718854 single base substitution G A missense_variant A184T 550G>A ESAD-UK 1 11718854 11718854 single base substitution G A missense_variant R142H 425G>A ESAD-UK 1 11718854 11718854 single base substitution G A missense_variant R174H 521G>A ESAD-UK 1 11718854 11718854 single base substitution G A missense_variant R50H 149G>A ESAD-UK 1 11718854 11718854 single base substitution G A missense_variant R65H 194G>A ESAD-UK 1 11719724 11719724 single base substitution A T downstream_gene_variant ESAD-UK 1 11719724 11719724 single base substitution A T intron_variant ESAD-UK 1 11725704 11725704 single base substitution G A downstream_gene_variant ESAD-UK 1 11727259 11727259 single base substitution T A downstream_gene_variant ESCA-CN 1 11710779 11710779 insertion of <=200bp - GCG upstream_gene_variant ESCA-CN 1 11718390 11718390 single base substitution G A missense_variant R111Q 332G>A ESCA-CN 1 11718390 11718390 single base substitution G A missense_variant R34Q 101G>A ESCA-CN 1 11718390 11718390 single base substitution G A upstream_gene_variant GBM-US 1 11716011 11716011 single base substitution T C missense_variant L40P 119T>C GBM-US 1 11716011 11716011 single base substitution T C upstream_gene_variant KIRC-US 1 11709907 11709907 single base substitution A C upstream_gene_variant LAML-KR 1 11721217 11721217 single base substitution G A downstream_gene_variant LAML-KR 1 11721217 11721217 single base substitution G A missense_variant G219S 655G>A LAML-KR 1 11721217 11721217 single base substitution G A missense_variant R100Q 299G>A LAML-KR 1 11721217 11721217 single base substitution G A missense_variant R177Q 530G>A LAML-KR 1 11721217 11721217 single base substitution G A missense_variant R209Q 626G>A LAML-KR 1 11721217 11721217 single base substitution G A missense_variant R85Q 254G>A LAML-KR 1 11726457 11726457 single base substitution G T downstream_gene_variant LICA-CN 1 11709899 11709899 single base substitution T A upstream_gene_variant LICA-FR 1 11710788 11710788 single base substitution G C upstream_gene_variant LICA-FR 1 11718452 11718452 single base substitution T A intron_variant LICA-FR 1 11718452 11718452 single base substitution T A splice_donor_variant LICA-FR 1 11718452 11718452 single base substitution T A upstream_gene_variant LICA-FR 1 11723763 11723763 single base substitution G A downstream_gene_variant LINC-JP 1 11710103 11710103 single base substitution C T upstream_gene_variant LINC-JP 1 11710798 11710798 single base substitution T G upstream_gene_variant LINC-JP 1 11714271 11714271 single base substitution C T upstream_gene_variant LINC-JP 1 11726260 11726260 single base substitution C T downstream_gene_variant LIRI-JP 1 11710761 11710761 single base substitution G A upstream_gene_variant LIRI-JP 1 11712210 11712210 single base substitution A C upstream_gene_variant LIRI-JP 1 11712897 11712897 single base substitution C T upstream_gene_variant LIRI-JP 1 11718541 11718541 single base substitution C T intron_variant LIRI-JP 1 11718541 11718541 single base substitution C T upstream_gene_variant LIRI-JP 1 11720281 11720281 single base substitution G T downstream_gene_variant LIRI-JP 1 11720281 11720281 single base substitution G T intron_variant LIRI-JP 1 11721823 11721823 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 11721823 11721823 single base substitution G A downstream_gene_variant LIRI-JP 1 11721823 11721823 single base substitution G A intron_variant LIRI-JP 1 11723816 11723816 single base substitution G T downstream_gene_variant LIRI-JP 1 11726729 11726729 single base substitution G A downstream_gene_variant LIRI-JP 1 11728226 11728226 single base substitution G T downstream_gene_variant LUSC-KR 1 11709538 11709538 single base substitution C A upstream_gene_variant LUSC-KR 1 11709765 11709765 single base substitution T G upstream_gene_variant LUSC-KR 1 11714176 11714176 single base substitution T C upstream_gene_variant LUSC-KR 1 11720163 11720163 single base substitution G T downstream_gene_variant LUSC-KR 1 11720163 11720163 single base substitution G T intron_variant LUSC-KR 1 11721589 11721589 single base substitution G C 3_prime_UTR_variant LUSC-KR 1 11721589 11721589 single base substitution G C downstream_gene_variant LUSC-KR 1 11721589 11721589 single base substitution G C intron_variant LUSC-KR 1 11724578 11724578 single base substitution A G downstream_gene_variant LUSC-US 1 11710680 11710680 single base substitution C A upstream_gene_variant LUSC-US 1 11721284 11721284 single base substitution C T downstream_gene_variant LUSC-US 1 11721284 11721284 single base substitution C T missense_variant P241L 722C>T LUSC-US 1 11721284 11721284 single base substitution C T synonymous_variant P107P 321C>T LUSC-US 1 11721284 11721284 single base substitution C T synonymous_variant P122P 366C>T LUSC-US 1 11721284 11721284 single base substitution C T synonymous_variant P199P 597C>T LUSC-US 1 11721284 11721284 single base substitution C T synonymous_variant P231P 693C>T LUSC-US 1 11721303 11721303 single base substitution C T downstream_gene_variant LUSC-US 1 11721303 11721303 single base substitution C T missense_variant H114Y 340C>T LUSC-US 1 11721303 11721303 single base substitution C T missense_variant H129Y 385C>T LUSC-US 1 11721303 11721303 single base substitution C T missense_variant H206Y 616C>T LUSC-US 1 11721303 11721303 single base substitution C T missense_variant H238Y 712C>T LUSC-US 1 11721303 11721303 single base substitution C T synonymous_variant S247S 741C>T MALY-DE 1 11711030 11711030 single base substitution A C upstream_gene_variant MALY-DE 1 11713043 11713043 single base substitution G A upstream_gene_variant MELA-AU 1 11709947 11709947 single base substitution T C upstream_gene_variant MELA-AU 1 11709955 11709955 single base substitution G A upstream_gene_variant MELA-AU 1 11711028 11711028 single base substitution A C upstream_gene_variant MELA-AU 1 11711512 11711512 single base substitution C T upstream_gene_variant MELA-AU 1 11711534 11711534 single base substitution A T upstream_gene_variant MELA-AU 1 11712008 11712008 deletion of <=200bp A - upstream_gene_variant MELA-AU 1 11712512 11712512 single base substitution G A upstream_gene_variant MELA-AU 1 11713194 11713194 single base substitution C T upstream_gene_variant MELA-AU 1 11713294 11713294 single base substitution C T upstream_gene_variant MELA-AU 1 11713785 11713785 single base substitution G A upstream_gene_variant MELA-AU 1 11714056 11714056 single base substitution C T upstream_gene_variant MELA-AU 1 11715642 11715642 single base substitution G A 5_prime_UTR_variant MELA-AU 1 11715642 11715642 single base substitution G A intron_variant MELA-AU 1 11715642 11715642 single base substitution G A upstream_gene_variant MELA-AU 1 11716653 11716653 single base substitution G A intron_variant MELA-AU 1 11716653 11716653 single base substitution G A upstream_gene_variant MELA-AU 1 11717681 11717681 single base substitution C T intron_variant MELA-AU 1 11717681 11717681 single base substitution C T upstream_gene_variant MELA-AU 1 11717877 11717877 single base substitution G A intron_variant MELA-AU 1 11717877 11717877 single base substitution G A upstream_gene_variant MELA-AU 1 11717932 11717932 single base substitution T C intron_variant MELA-AU 1 11717932 11717932 single base substitution T C upstream_gene_variant MELA-AU 1 11717947 11717947 single base substitution C T intron_variant MELA-AU 1 11717947 11717947 single base substitution C T upstream_gene_variant MELA-AU 1 11718775 11718775 single base substitution C T intron_variant MELA-AU 1 11718945 11718945 single base substitution G A downstream_gene_variant MELA-AU 1 11718945 11718945 single base substitution G A intron_variant MELA-AU 1 11720226 11720226 single base substitution T A downstream_gene_variant MELA-AU 1 11720226 11720226 single base substitution T A intron_variant MELA-AU 1 11721349 11721349 single base substitution C T 3_prime_UTR_variant MELA-AU 1 11721349 11721349 single base substitution C T downstream_gene_variant MELA-AU 1 11721349 11721349 single base substitution C T missense_variant S129F 386C>T MELA-AU 1 11721349 11721349 single base substitution C T missense_variant S144F 431C>T MELA-AU 1 11721349 11721349 single base substitution C T missense_variant S221F 662C>T MELA-AU 1 11721349 11721349 single base substitution C T missense_variant S253F 758C>T MELA-AU 1 11721613 11721613 single base substitution C T 3_prime_UTR_variant MELA-AU 1 11721613 11721613 single base substitution C T downstream_gene_variant MELA-AU 1 11721613 11721613 single base substitution C T intron_variant MELA-AU 1 11721905 11721906 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 11721905 11721906 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 11721905 11721906 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 11721960 11721960 single base substitution T G 3_prime_UTR_variant MELA-AU 1 11721960 11721960 single base substitution T G downstream_gene_variant MELA-AU 1 11721960 11721960 single base substitution T G intron_variant MELA-AU 1 11722253 11722253 single base substitution C T 3_prime_UTR_variant MELA-AU 1 11722253 11722253 single base substitution C T downstream_gene_variant MELA-AU 1 11722253 11722253 single base substitution C T intron_variant MELA-AU 1 11722850 11722850 single base substitution C T 3_prime_UTR_variant MELA-AU 1 11722850 11722850 single base substitution C T downstream_gene_variant MELA-AU 1 11722850 11722850 single base substitution C T intron_variant MELA-AU 1 11724256 11724256 single base substitution G A downstream_gene_variant MELA-AU 1 11724546 11724546 single base substitution C T downstream_gene_variant MELA-AU 1 11725326 11725326 single base substitution G A downstream_gene_variant MELA-AU 1 11726996 11726996 single base substitution G A downstream_gene_variant MELA-AU 1 11728044 11728044 single base substitution G A downstream_gene_variant OV-AU 1 11710705 11710705 single base substitution G A upstream_gene_variant OV-AU 1 11711144 11711144 single base substitution C G upstream_gene_variant OV-AU 1 11713362 11713362 single base substitution C T upstream_gene_variant OV-AU 1 11718460 11718460 single base substitution G A intron_variant OV-AU 1 11718460 11718460 single base substitution G A upstream_gene_variant OV-AU 1 11719154 11719154 single base substitution C G downstream_gene_variant OV-AU 1 11719154 11719154 single base substitution C G intron_variant OV-AU 1 11727207 11727207 single base substitution T G downstream_gene_variant PACA-AU 1 11718068 11718068 single base substitution A C intron_variant PACA-AU 1 11718068 11718068 single base substitution A C upstream_gene_variant PACA-AU 1 11718194 11718194 single base substitution C T intron_variant PACA-AU 1 11718194 11718194 single base substitution C T upstream_gene_variant PACA-AU 1 11720933 11720933 single base substitution C T downstream_gene_variant PACA-AU 1 11720933 11720933 single base substitution C T intron_variant PACA-AU 1 11721823 11721823 single base substitution G A 3_prime_UTR_variant PACA-AU 1 11721823 11721823 single base substitution G A downstream_gene_variant PACA-AU 1 11721823 11721823 single base substitution G A intron_variant PACA-AU 1 11722812 11722812 single base substitution G T 3_prime_UTR_variant PACA-AU 1 11722812 11722812 single base substitution G T downstream_gene_variant PACA-AU 1 11722812 11722812 single base substitution G T intron_variant PACA-AU 1 11725877 11725877 single base substitution A C downstream_gene_variant PACA-AU 1 11726098 11726098 single base substitution T C downstream_gene_variant PACA-CA 1 11710779 11710779 insertion of <=200bp - GCG upstream_gene_variant PACA-CA 1 11712950 11712950 single base substitution A T upstream_gene_variant PACA-CA 1 11713712 11713712 single base substitution G A upstream_gene_variant PACA-CA 1 11715264 11715264 single base substitution G T intron_variant PACA-CA 1 11715264 11715264 single base substitution G T upstream_gene_variant PACA-CA 1 11715305 11715305 single base substitution C G intron_variant PACA-CA 1 11715305 11715305 single base substitution C G upstream_gene_variant PACA-CA 1 11716100 11716100 single base substitution A G missense_variant I70V 208A>G PACA-CA 1 11716100 11716100 single base substitution A G upstream_gene_variant PACA-CA 1 11717859 11717859 insertion of <=200bp - A intron_variant PACA-CA 1 11717859 11717859 insertion of <=200bp - A upstream_gene_variant PACA-CA 1 11718074 11718074 single base substitution C A intron_variant PACA-CA 1 11718074 11718074 single base substitution C A upstream_gene_variant PACA-CA 1 11723862 11723874 deletion of <=200bp GCCACCACGCCCG - downstream_gene_variant PACA-CA 1 11727328 11727328 single base substitution G T downstream_gene_variant PACA-CA 1 11727877 11727877 single base substitution C T downstream_gene_variant PACA-CA 1 11727950 11727950 single base substitution C T downstream_gene_variant PAEN-AU 1 11726718 11726718 single base substitution C A downstream_gene_variant PAEN-IT 1 11724078 11724078 single base substitution C T downstream_gene_variant PBCA-DE 1 11709617 11709617 single base substitution G C upstream_gene_variant PBCA-DE 1 11719262 11719262 single base substitution G C downstream_gene_variant PBCA-DE 1 11719262 11719262 single base substitution G C intron_variant PRAD-CA 1 11723945 11723945 single base substitution C A downstream_gene_variant PRAD-UK 1 11712274 11712274 single base substitution A G upstream_gene_variant PRAD-UK 1 11713370 11713379 deletion of <=200bp CACAACTCCC - upstream_gene_variant READ-US 1 11718436 11718436 single base substitution C T intron_variant READ-US 1 11718436 11718436 single base substitution C T synonymous_variant F126F 378C>T READ-US 1 11718436 11718436 single base substitution C T upstream_gene_variant READ-US 1 11718862 11718862 single base substitution G A missense_variant A145T 433G>A READ-US 1 11718862 11718862 single base substitution G A missense_variant A177T 529G>A READ-US 1 11718862 11718862 single base substitution G A missense_variant A53T 157G>A READ-US 1 11718862 11718862 single base substitution G A missense_variant A68T 202G>A READ-US 1 11718862 11718862 single base substitution G A synonymous_variant A186A 558G>A RECA-EU 1 11711956 11711956 single base substitution A G upstream_gene_variant RECA-EU 1 11720464 11720464 single base substitution G A downstream_gene_variant RECA-EU 1 11720464 11720464 single base substitution G A intron_variant SKCA-BR 1 11713605 11713605 single base substitution T G upstream_gene_variant SKCA-BR 1 11714883 11714883 insertion of <=200bp - GGCGGGGC intron_variant SKCA-BR 1 11714883 11714883 insertion of <=200bp - GGCGGGGC upstream_gene_variant SKCA-BR 1 11715311 11715311 single base substitution T G intron_variant SKCA-BR 1 11715311 11715311 single base substitution T G upstream_gene_variant SKCA-BR 1 11715329 11715329 single base substitution T G intron_variant SKCA-BR 1 11715329 11715329 single base substitution T G upstream_gene_variant SKCA-BR 1 11715334 11715334 single base substitution A G intron_variant SKCA-BR 1 11715334 11715334 single base substitution A G upstream_gene_variant SKCA-BR 1 11715937 11715937 single base substitution G A synonymous_variant L15L 45G>A SKCA-BR 1 11715937 11715937 single base substitution G A upstream_gene_variant SKCA-BR 1 11716521 11716522 deletion of <=200bp AT - intron_variant SKCA-BR 1 11716521 11716522 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 1 11718737 11718737 single base substitution A C intron_variant SKCA-BR 1 11723007 11723011 deletion of <=200bp TTTTC - 3_prime_UTR_variant SKCA-BR 1 11723007 11723011 deletion of <=200bp TTTTC - downstream_gene_variant SKCA-BR 1 11723007 11723011 deletion of <=200bp TTTTC - intron_variant SKCA-BR 1 11723955 11723955 single base substitution C T downstream_gene_variant SKCA-BR 1 11724381 11724381 single base substitution T G downstream_gene_variant SKCA-BR 1 11725611 11725611 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 11727333 11727333 single base substitution C T downstream_gene_variant SKCA-BR 1 11728166 11728166 single base substitution G A downstream_gene_variant SKCM-US 1 11710068 11710068 single base substitution G A upstream_gene_variant SKCM-US 1 11716079 11716079 single base substitution C T stop_gained Q63* 187C>T SKCM-US 1 11716079 11716079 single base substitution C T upstream_gene_variant SKCM-US 1 11718602 11718602 single base substitution G A intron_variant SKCM-US 1 11718602 11718602 single base substitution G A missense_variant V126I 376G>A SKCM-US 1 11718602 11718602 single base substitution G A missense_variant V2I 4G>A SKCM-US 1 11718602 11718602 single base substitution G A synonymous_variant K135K 405G>A SKCM-US 1 11718796 11718796 single base substitution C T missense_variant R123C 367C>T SKCM-US 1 11718796 11718796 single base substitution C T missense_variant R155C 463C>T SKCM-US 1 11718796 11718796 single base substitution C T missense_variant R31C 91C>T SKCM-US 1 11718796 11718796 single base substitution C T missense_variant R46C 136C>T SKCM-US 1 11718796 11718796 single base substitution C T synonymous_variant F164F 492C>T STAD-US 1 11715958 11715958 single base substitution C T synonymous_variant P22P 66C>T STAD-US 1 11715958 11715958 single base substitution C T upstream_gene_variant STAD-US 1 11716005 11716005 single base substitution G A missense_variant R38Q 113G>A STAD-US 1 11716005 11716005 single base substitution G A upstream_gene_variant STAD-US 1 11716012 11716012 single base substitution C A synonymous_variant L40L 120C>A STAD-US 1 11716012 11716012 single base substitution C A upstream_gene_variant STAD-US 1 11716013 11716013 single base substitution A G missense_variant I41V 121A>G STAD-US 1 11716013 11716013 single base substitution A G upstream_gene_variant STAD-US 1 11718602 11718602 single base substitution G A intron_variant STAD-US 1 11718602 11718602 single base substitution G A missense_variant V126I 376G>A STAD-US 1 11718602 11718602 single base substitution G A missense_variant V2I 4G>A STAD-US 1 11718602 11718602 single base substitution G A synonymous_variant K135K 405G>A STAD-US 1 11721234 11721234 single base substitution G A downstream_gene_variant STAD-US 1 11721234 11721234 single base substitution G A missense_variant V106I 316G>A STAD-US 1 11721234 11721234 single base substitution G A missense_variant V183I 547G>A STAD-US 1 11721234 11721234 single base substitution G A missense_variant V215I 643G>A STAD-US 1 11721234 11721234 single base substitution G A missense_variant V91I 271G>A STAD-US 1 11721234 11721234 single base substitution G A stop_gained W224* 672G>A THCA-SA 1 11710779 11710779 insertion of <=200bp - GCG upstream_gene_variant THCA-SA 1 11721854 11721854 single base substitution C T 3_prime_UTR_variant THCA-SA 1 11721854 11721854 single base substitution C T downstream_gene_variant THCA-SA 1 11721854 11721854 single base substitution C T intron_variant THCA-SA 1 11722688 11722688 single base substitution G A 3_prime_UTR_variant THCA-SA 1 11722688 11722688 single base substitution G A downstream_gene_variant THCA-US 1 11718892 11718892 single base substitution G A missense_variant D155N 463G>A THCA-US 1 11718892 11718892 single base substitution G A missense_variant D187N 559G>A THCA-US 1 11718892 11718892 single base substitution G A missense_variant D63N 187G>A THCA-US 1 11718892 11718892 single base substitution G A missense_variant D78N 232G>A THCA-US 1 11718892 11718892 single base substitution G A synonymous_variant A196A 588G>A UCEC-US 1 11710617 11710617 single base substitution G A upstream_gene_variant UCEC-US 1 11715946 11715946 single base substitution C A missense_variant F18L 54C>A UCEC-US 1 11715946 11715946 single base substitution C A upstream_gene_variant UCEC-US 1 11718436 11718436 single base substitution C T intron_variant UCEC-US 1 11718436 11718436 single base substitution C T synonymous_variant F126F 378C>T UCEC-US 1 11718436 11718436 single base substitution C T upstream_gene_variant UCEC-US 1 11718814 11718814 single base substitution C T missense_variant R129W 385C>T UCEC-US 1 11718814 11718814 single base substitution C T missense_variant R161W 481C>T UCEC-US 1 11718814 11718814 single base substitution C T missense_variant R37W 109C>T UCEC-US 1 11718814 11718814 single base substitution C T missense_variant R52W 154C>T UCEC-US 1 11718814 11718814 single base substitution C T synonymous_variant C170C 510C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 2521249 COSM5843188 c.386C>T p.S129L Substitution - Missense 1:11658387-11658387 + 587278 COSM1206857 c.550G>A p.A184T Substitution - Missense 1:11658797-11658797 + 2492713 COSM5606544 c.129C>T p.L43L Substitution - coding silent 1:11655964-11655964 + Capan-1 COSM328036 c.332G>A p.R111Q Substitution - Missense 1:11658333-11658333 + Sample_1 COSM2178553 c.556G>A p.A186T Substitution - Missense 1:11658803-11658803 + TCGA-BR-8380-01 COSM4021069 c.66C>T p.P22P Substitution - coding silent 1:11655901-11655901 + SJBALL021047_D1 COSM4993968 c.488+1G>A p.? Unknown 1:11658629-11658629 + TCGA-EE-A2GC-06 COSM3471906 c.187C>T p.Q63* Substitution - Nonsense 1:11656022-11656022 + TCGA-DY-A1DG-01 COSM1560071 c.558G>A p.A186A Substitution - coding silent 1:11658805-11658805 + U031 COSM1683053 c.403A>T p.K135* Substitution - Nonsense 1:11658543-11658543 + C10 COSM4616418 c.274G>A p.E92K Substitution - Missense 1:11658275-11658275 + 2492711 COSM5606544 c.129C>T p.L43L Substitution - coding silent 1:11655964-11655964 + TCGA-24-1474-01 COSM70760 c.304G>A p.D102N Substitution - Missense 1:11658305-11658305 + 587234 COSM1206858 c.684C>T p.G228G Substitution - coding silent 1:11661189-11661189 + H1703 COSM1196637 c.552G>C p.A184A Substitution - coding silent 1:11658799-11658799 + TCGA-D3-A51G-06 COSM3471908 c.492C>T p.F164F Substitution - coding silent 1:11658739-11658739 + B80-5-Tumor COSM1747660 c.93C>T p.R31R Substitution - coding silent 1:11655928-11655928 + TCGA-BS-A0UF-01 COSM894439 c.378C>T p.F126F Substitution - coding silent 1:11658379-11658379 + Pat_01_A COSM5843188 c.386C>T p.S129L Substitution - Missense 1:11658387-11658387 + CSCC-27-T COSM4515158 c.99C>T p.V33V Substitution - coding silent 1:11655934-11655934 + EGC3 COSM5052434 c.285C>T p.S95S Substitution - coding silent 1:11658286-11658286 + AOCS-159-1-9 COSM4004727 c.392+10G>A p.? Unknown 1:11658403-11658403 + sysucc-311T COSM894439 c.378C>T p.F126F Substitution - coding silent 1:11658379-11658379 + CN-AML-CR-27-Dx COSM5424484 c.655G>A p.G219S Substitution - Missense 1:11661160-11661160 + PM-7 COSM5619601 c.254C>T p.P85L Substitution - Missense 1:11656089-11656089 + TCGA-AP-A059-01 COSM894440 c.510C>T p.C170C Substitution - coding silent 1:11658757-11658757 + TCGA-HU-8610-01 COSM4021071 c.120C>A p.L40L Substitution - coding silent 1:11655955-11655955 + TCGA-FY-A3W9-01 COSM3369223 c.588G>A p.A196A Substitution - coding silent 1:11658835-11658835 + B80-5 COSM1747660 c.93C>T p.R31R Substitution - coding silent 1:11655928-11655928 + Au8 COSM5606544 c.129C>T p.L43L Substitution - coding silent 1:11655964-11655964 + LUAD_E00623 COSM354039 c.84G>T p.L28L Substitution - coding silent 1:11655919-11655919 + ZZUFHECRKL-G023T COSM328036 c.332G>A p.R111Q Substitution - Missense 1:11658333-11658333 + TCGA-B5-A0JY-01 COSM894438 c.54C>A p.F18L Substitution - Missense 1:11655889-11655889 + RMS110_ COSM4987136 c.91C>T p.R31C Substitution - Missense 1:11655926-11655926 + 2492712 COSM5606544 c.129C>T p.L43L Substitution - coding silent 1:11655964-11655964 + TCGA-BR-8081-01 COSM3471907 c.405G>A p.K135K Substitution - coding silent 1:11658545-11658545 + TCGA-BH-A0BL-01 COSM423555 c.274G>T p.E92* Substitution - Nonsense 1:11658275-11658275 + TCGA-33-4566-01 COSM675130 c.741C>T p.S247S Substitution - coding silent 1:11661246-11661246 + TCGA-D5-6927-01 COSM1333006 c.29C>A p.P10H Substitution - Missense 1:11655864-11655864 + TCGA-FP-A4BE-01 COSM4021072 c.121A>G p.I41V Substitution - Missense 1:11655956-11655956 + CHC2215T COSM4790277 c.392+2T>A p.? Unknown 1:11658395-11658395 + TCGA-51-4080-01 COSM675131 c.722C>T p.P241L Substitution - Missense 1:11661227-11661227 + TCGA-F5-6814-01 COSM894439 c.378C>T p.F126F Substitution - coding silent 1:11658379-11658379 + TCGA-BH-A1EW-01 COSM423556 c.454G>A p.D152N Substitution - Missense 1:11658594-11658594 + T9 COSM5618593 c.759G>A p.P253P Substitution - coding silent 1:11661264-11661264 + WSU-HN30 COSM4600791 c.662G>C p.R221P Substitution - Missense 1:11661167-11661167 + 2492714 COSM5606544 c.129C>T p.L43L Substitution - coding silent 1:11655964-11655964 + 2973_T COSM3975931 c.265+6G>C p.? Unknown 1:11656106-11656106 + B83-Tumor COSM1747661 c.106C>T p.L36F Substitution - Missense 1:11655941-11655941 + TCGA-06-0939-01 COSM3399580 c.119T>C p.L40P Substitution - Missense 1:11655954-11655954 + CHC2215T COSM4790277 c.392+2T>A p.? Unknown 1:11658395-11658395 + TCGA-A8-A0A1-01 COSM5832237 c.337_338insT p.Q113fs*8 Insertion - Frameshift 1:11658338-11658339 + TCGA-BR-4257-01 COSM4021070 c.113G>A p.R38Q Substitution - Missense 1:11655948-11655948 + PR-00-1165 COSM244476 c.464G>A p.R155Q Substitution - Missense 1:11658604-11658604 + PT35 COSM5911323 c.490T>C p.F164L Substitution - Missense 1:11658737-11658737 + B83 COSM1747661 c.106C>T p.L36F Substitution - Missense 1:11655941-11655941 + TCGA-D7-A4YT-01 COSM4021073 c.672G>A p.W224* Substitution - Nonsense 1:11661177-11661177 + PCSI_0311_Pa_P_526 COSM3849217 c.208A>G p.I70V Substitution - Missense 1:11656043-11656043 + HT115 COSM2178552 c.545C>T p.S182L Substitution - Missense 1:11658792-11658792 + TCGA-FS-A1ZA-06 COSM3471907 c.405G>A p.K135K Substitution - coding silent 1:11658545-11658545 + SW480 COSM2178547 c.429C>T p.A143A Substitution - coding silent 1:11658569-11658569 + NOKSI COSM4596058 c.31G>A p.E11K Substitution - Missense 1:11655866-11655866 + Pat_01_B COSM5843188 c.386C>T p.S129L Substitution - Missense 1:11658387-11658387 + YUPAER COSM5377331 c.409C>T p.Q137* Substitution - Nonsense 1:11658549-11658549 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.555999;Hs.556006 1p36.22 609111

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - C Frameshift p.R242Efs*26 c.722dupC 1 11721282 BLCA C T Missense p.P241L c.722C>T 1 11721284 LUSC C T Missense p.S129L c.386C>T 1 11718444 HNSC C T Nonsense p.Q226* c.676C>T 1 11721238 CM C T Nonsense p.Q63* c.187C>T 1 11716079 CM C T Synonymous p.F126F c.378C>T 1 11718436 CM C T Synonymous p.F126F c.378C>T 1 11718436 HNSC C T Synonymous p.F93F c.279C>T 1 11718337 LUAD G A Missense p.D102N c.304G>A 1 11718362 OV G A Missense p.D140N c.418G>A 1 11718615 HNSC G A Missense p.D152N c.454G>A 1 11718651 BRCA G A Missense p.R38Q c.113G>A 1 11716005 STAD G A Synonymous p.A196A c.588G>A 1 11718892 THCA G A Synonymous p.K135K c.405G>A 1 11718602 CM G A Synonymous p.P241P c.723G>A 1 11721285 CM G T Nonsense p.E92* c.274G>T 1 11718332 BRCA T C Missense p.L40P c.119T>C 1 11716011 GBM