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 16 87435864 87435864 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr16:87435864G>A c.180G>A c.(178-180)atG>atA p.M60I CESC 16 87436639 87436640 + Frame_Shift_Ins INS - - AG TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 g.chr16:87436639_87436640insAG c.314_315insAG c.(313-318)gaagatfs p.D106fs ESCA 16 87436702 87436702 + Stop_Codon_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr16:87436702delA LUAD 16 87435794 87435794 + Missense_Mutation SNP G G A TCGA-44-A47A-01A-21D-A24D-08 TCGA-44-A47A-10A-01D-A24F-08 g.chr16:87435794G>A c.110G>A c.(109-111)cGa>cAa p.R37Q LUSC 16 87436590 87436590 + Missense_Mutation SNP G G T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 g.chr16:87436590G>T c.265G>T c.(265-267)Gtc>Ttc p.V89F PCPG 16 87426052 87426052 + Frame_Shift_Del DEL T T - TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 g.chr16:87426052delT c.19delT c.(19-21)ttcfs p.F7fs SKCM 16 87432441 87432441 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr16:87432441C>G c.61C>G c.(61-63)Cga>Gga p.R21G SKCM 16 87432463 87432463 + Missense_Mutation SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr16:87432463C>T c.83C>T c.(82-84)cCa>cTa p.P28L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 16 87425953 87425953 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BOCA-FR 16 87425953 87425953 single base substitution C T downstream_gene_variant BOCA-FR 16 87425953 87425953 single base substitution C T upstream_gene_variant BOCA-FR 16 87431244 87431244 single base substitution A T intron_variant BRCA-EU 16 87413105 87413105 single base substitution T A upstream_gene_variant BRCA-EU 16 87416499 87416499 single base substitution C T upstream_gene_variant BRCA-EU 16 87418143 87418143 single base substitution G C intron_variant BRCA-EU 16 87418740 87418740 single base substitution C T intron_variant BRCA-EU 16 87418740 87418740 single base substitution C T upstream_gene_variant BRCA-EU 16 87419053 87419053 single base substitution G C intron_variant BRCA-EU 16 87419053 87419053 single base substitution G C upstream_gene_variant BRCA-EU 16 87421144 87421144 single base substitution C T intron_variant BRCA-EU 16 87421144 87421144 single base substitution C T upstream_gene_variant BRCA-EU 16 87421551 87421551 single base substitution A T intron_variant BRCA-EU 16 87421551 87421551 single base substitution A T upstream_gene_variant BRCA-EU 16 87423356 87423356 single base substitution C G intron_variant BRCA-EU 16 87423356 87423356 single base substitution C G upstream_gene_variant BRCA-EU 16 87423820 87423820 single base substitution G C intron_variant BRCA-EU 16 87423820 87423820 single base substitution G C upstream_gene_variant BRCA-EU 16 87425517 87425517 single base substitution G A 5_prime_UTR_variant BRCA-EU 16 87425517 87425517 single base substitution G A downstream_gene_variant BRCA-EU 16 87425517 87425517 single base substitution G A upstream_gene_variant BRCA-EU 16 87425564 87425564 single base substitution A C 5_prime_UTR_variant BRCA-EU 16 87425564 87425564 single base substitution A C downstream_gene_variant BRCA-EU 16 87425564 87425564 single base substitution A C upstream_gene_variant BRCA-EU 16 87425885 87425885 single base substitution C G 5_prime_UTR_variant BRCA-EU 16 87425885 87425885 single base substitution C G downstream_gene_variant BRCA-EU 16 87425885 87425885 single base substitution C G upstream_gene_variant BRCA-EU 16 87425888 87425888 single base substitution G A 5_prime_UTR_variant BRCA-EU 16 87425888 87425888 single base substitution G A downstream_gene_variant BRCA-EU 16 87425888 87425888 single base substitution G A upstream_gene_variant BRCA-EU 16 87428154 87428154 single base substitution C T downstream_gene_variant BRCA-EU 16 87428154 87428154 single base substitution C T intron_variant BRCA-EU 16 87430181 87430181 single base substitution G C downstream_gene_variant BRCA-EU 16 87430181 87430181 single base substitution G C intron_variant BRCA-EU 16 87433787 87433787 single base substitution T A downstream_gene_variant BRCA-EU 16 87433787 87433787 single base substitution T A intron_variant BRCA-EU 16 87433984 87433984 single base substitution A G downstream_gene_variant BRCA-EU 16 87433984 87433984 single base substitution A G intron_variant BRCA-EU 16 87434816 87434816 single base substitution T C downstream_gene_variant BRCA-EU 16 87434816 87434816 single base substitution T C intron_variant BRCA-EU 16 87437289 87437289 single base substitution T C 3_prime_UTR_variant BRCA-EU 16 87437289 87437289 single base substitution T C downstream_gene_variant BRCA-EU 16 87438108 87438108 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 87438108 87438108 single base substitution C T downstream_gene_variant BRCA-EU 16 87438432 87438432 single base substitution T C downstream_gene_variant BRCA-EU 16 87438640 87438640 single base substitution G A downstream_gene_variant BRCA-EU 16 87438808 87438808 single base substitution G A downstream_gene_variant BRCA-FR 16 87413105 87413105 single base substitution T A upstream_gene_variant BRCA-FR 16 87417475 87417475 single base substitution C T upstream_gene_variant BRCA-FR 16 87421199 87421199 single base substitution G C intron_variant BRCA-FR 16 87421199 87421199 single base substitution G C upstream_gene_variant BRCA-FR 16 87430181 87430181 single base substitution G C downstream_gene_variant BRCA-FR 16 87430181 87430181 single base substitution G C intron_variant BRCA-FR 16 87438432 87438432 single base substitution T C downstream_gene_variant BRCA-UK 16 87420510 87420510 single base substitution G A intron_variant BRCA-UK 16 87420510 87420510 single base substitution G A upstream_gene_variant BTCA-JP 16 87433314 87433314 insertion of <=200bp - AA downstream_gene_variant BTCA-JP 16 87433314 87433314 insertion of <=200bp - AA intron_variant BTCA-JP 16 87433314 87433314 insertion of <=200bp - A downstream_gene_variant BTCA-JP 16 87433314 87433314 insertion of <=200bp - A intron_variant BTCA-JP 16 87436663 87436663 single base substitution A G 3_prime_UTR_variant BTCA-JP 16 87436663 87436663 single base substitution A G downstream_gene_variant BTCA-JP 16 87436663 87436663 single base substitution A G missense_variant Y113C 338A>G BTCA-JP 16 87436663 87436663 single base substitution A G missense_variant Y54C 161A>G BTCA-JP 16 87436734 87436734 single base substitution G T 3_prime_UTR_variant BTCA-JP 16 87436734 87436734 single base substitution G T downstream_gene_variant CESC-US 16 87436639 87436639 insertion of <=200bp - AG 3_prime_UTR_variant CESC-US 16 87436639 87436639 insertion of <=200bp - AG downstream_gene_variant CESC-US 16 87436639 87436639 insertion of <=200bp - AG frameshift_variant E105E? CESC-US 16 87436639 87436639 insertion of <=200bp - AG frameshift_variant E46E? CLLE-ES 16 87430998 87430998 single base substitution G A intron_variant CLLE-ES 16 87437782 87437782 single base substitution C G 3_prime_UTR_variant CLLE-ES 16 87437782 87437782 single base substitution C G downstream_gene_variant COCA-CN 16 87432240 87432240 single base substitution G T intron_variant COCA-CN 16 87436682 87436682 single base substitution C T 3_prime_UTR_variant COCA-CN 16 87436682 87436682 single base substitution C T downstream_gene_variant COCA-CN 16 87436682 87436682 single base substitution C T synonymous_variant F119F 357C>T COCA-CN 16 87436682 87436682 single base substitution C T synonymous_variant F60F 180C>T COCA-CN 16 87436721 87436721 single base substitution C A 3_prime_UTR_variant COCA-CN 16 87436721 87436721 single base substitution C A downstream_gene_variant COCA-CN 16 87436734 87436734 single base substitution G T 3_prime_UTR_variant COCA-CN 16 87436734 87436734 single base substitution G T downstream_gene_variant COCA-CN 16 87436794 87436794 single base substitution C T 3_prime_UTR_variant COCA-CN 16 87436794 87436794 single base substitution C T downstream_gene_variant COCA-CN 16 87436808 87436808 single base substitution G C 3_prime_UTR_variant COCA-CN 16 87436808 87436808 single base substitution G C downstream_gene_variant EOPC-DE 16 87418520 87418520 single base substitution T C intron_variant EOPC-DE 16 87418520 87418520 single base substitution T C upstream_gene_variant ESAD-UK 16 87417710 87417710 single base substitution A G exon_variant ESAD-UK 16 87418476 87418476 insertion of <=200bp - A intron_variant ESAD-UK 16 87418476 87418476 insertion of <=200bp - A upstream_gene_variant ESAD-UK 16 87424526 87424526 single base substitution C T intron_variant ESAD-UK 16 87424526 87424526 single base substitution C T upstream_gene_variant ESAD-UK 16 87425589 87425589 single base substitution G A 5_prime_UTR_variant ESAD-UK 16 87425589 87425589 single base substitution G A downstream_gene_variant ESAD-UK 16 87425589 87425589 single base substitution G A upstream_gene_variant ESAD-UK 16 87425623 87425623 single base substitution C T 5_prime_UTR_variant ESAD-UK 16 87425623 87425623 single base substitution C T downstream_gene_variant ESAD-UK 16 87425623 87425623 single base substitution C T upstream_gene_variant ESAD-UK 16 87425771 87425771 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 16 87425771 87425771 single base substitution C G downstream_gene_variant ESAD-UK 16 87425771 87425771 single base substitution C G upstream_gene_variant ESAD-UK 16 87426328 87426328 single base substitution C T 3_prime_UTR_variant ESAD-UK 16 87426328 87426328 single base substitution C T downstream_gene_variant ESAD-UK 16 87426328 87426328 single base substitution C T intron_variant ESAD-UK 16 87426328 87426328 single base substitution C T upstream_gene_variant ESAD-UK 16 87428341 87428341 single base substitution A G downstream_gene_variant ESAD-UK 16 87428341 87428341 single base substitution A G intron_variant ESAD-UK 16 87429153 87429153 single base substitution G A downstream_gene_variant ESAD-UK 16 87429153 87429153 single base substitution G A intron_variant ESAD-UK 16 87430166 87430166 single base substitution C A downstream_gene_variant ESAD-UK 16 87430166 87430166 single base substitution C A intron_variant ESAD-UK 16 87430762 87430762 single base substitution T A intron_variant ESAD-UK 16 87433182 87433182 single base substitution C G downstream_gene_variant ESAD-UK 16 87433182 87433182 single base substitution C G intron_variant ESAD-UK 16 87434994 87434994 single base substitution G T downstream_gene_variant ESAD-UK 16 87434994 87434994 single base substitution G T intron_variant ESAD-UK 16 87435224 87435224 single base substitution C T downstream_gene_variant ESAD-UK 16 87435224 87435224 single base substitution C T intron_variant ESAD-UK 16 87438743 87438744 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 16 87441195 87441195 insertion of <=200bp - T downstream_gene_variant ESAD-UK 16 87442039 87442039 single base substitution A T downstream_gene_variant LAML-KR 16 87432495 87432495 single base substitution C T exon_variant LAML-KR 16 87432495 87432495 single base substitution C T intron_variant LAML-KR 16 87436734 87436734 single base substitution G T 3_prime_UTR_variant LAML-KR 16 87436734 87436734 single base substitution G T downstream_gene_variant LICA-FR 16 87414601 87414601 single base substitution C G upstream_gene_variant LICA-FR 16 87433230 87433230 single base substitution A G 3_prime_UTR_variant LICA-FR 16 87433230 87433230 single base substitution A G 5_prime_UTR_variant LICA-FR 16 87433230 87433230 single base substitution A G downstream_gene_variant LICA-FR 16 87433230 87433230 single base substitution A G exon_variant LICA-FR 16 87433230 87433230 single base substitution A G intron_variant LICA-FR 16 87434246 87434246 single base substitution G T downstream_gene_variant LICA-FR 16 87434246 87434246 single base substitution G T intron_variant LINC-JP 16 87412937 87412937 single base substitution G A upstream_gene_variant LINC-JP 16 87425021 87425021 single base substitution A G intron_variant LINC-JP 16 87425021 87425021 single base substitution A G upstream_gene_variant LINC-JP 16 87427758 87427758 single base substitution G T downstream_gene_variant LINC-JP 16 87427758 87427758 single base substitution G T intron_variant LINC-JP 16 87435862 87435862 single base substitution A G 3_prime_UTR_variant LINC-JP 16 87435862 87435862 single base substitution A G downstream_gene_variant LINC-JP 16 87435862 87435862 single base substitution A G missense_variant M60V 178A>G LINC-JP 16 87435862 87435862 single base substitution A G start_lost M1V 1A>G LINC-JP 16 87436663 87436663 single base substitution A G 3_prime_UTR_variant LINC-JP 16 87436663 87436663 single base substitution A G downstream_gene_variant LINC-JP 16 87436663 87436663 single base substitution A G missense_variant Y113C 338A>G LINC-JP 16 87436663 87436663 single base substitution A G missense_variant Y54C 161A>G LIRI-JP 16 87413181 87413181 single base substitution C A upstream_gene_variant LIRI-JP 16 87414383 87414383 single base substitution G A upstream_gene_variant LIRI-JP 16 87416230 87416230 single base substitution C T upstream_gene_variant LIRI-JP 16 87425545 87425545 single base substitution C A 5_prime_UTR_variant LIRI-JP 16 87425545 87425545 single base substitution C A downstream_gene_variant LIRI-JP 16 87425545 87425545 single base substitution C A upstream_gene_variant LIRI-JP 16 87425977 87425977 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 16 87425977 87425977 single base substitution C T downstream_gene_variant LIRI-JP 16 87425977 87425977 single base substitution C T upstream_gene_variant LIRI-JP 16 87426649 87426649 deletion of <=200bp C - 3_prime_UTR_variant LIRI-JP 16 87426649 87426649 deletion of <=200bp C - 5_prime_UTR_variant LIRI-JP 16 87426649 87426649 deletion of <=200bp C - downstream_gene_variant LIRI-JP 16 87426649 87426649 deletion of <=200bp C - intron_variant LIRI-JP 16 87429336 87429336 single base substitution C A downstream_gene_variant LIRI-JP 16 87429336 87429336 single base substitution C A intron_variant LIRI-JP 16 87430585 87430585 single base substitution C T intron_variant LIRI-JP 16 87430764 87430764 single base substitution G A intron_variant LIRI-JP 16 87431026 87431026 single base substitution C G intron_variant LIRI-JP 16 87434618 87434618 single base substitution A G downstream_gene_variant LIRI-JP 16 87434618 87434618 single base substitution A G intron_variant LIRI-JP 16 87437634 87437634 single base substitution T C 3_prime_UTR_variant LIRI-JP 16 87437634 87437634 single base substitution T C downstream_gene_variant LIRI-JP 16 87440770 87440770 single base substitution C T downstream_gene_variant LIRI-JP 16 87441936 87441936 single base substitution A G downstream_gene_variant LIRI-JP 16 87441937 87441937 single base substitution A C downstream_gene_variant LUSC-KR 16 87412682 87412682 single base substitution A C upstream_gene_variant LUSC-KR 16 87413398 87413398 single base substitution C G upstream_gene_variant LUSC-KR 16 87414879 87414879 single base substitution T A upstream_gene_variant LUSC-KR 16 87417175 87417175 single base substitution G T upstream_gene_variant LUSC-KR 16 87417700 87417700 single base substitution C T exon_variant LUSC-KR 16 87417705 87417705 single base substitution C T exon_variant LUSC-KR 16 87417969 87417969 single base substitution G A intron_variant LUSC-KR 16 87425739 87425739 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 16 87425739 87425739 single base substitution G T downstream_gene_variant LUSC-KR 16 87425739 87425739 single base substitution G T upstream_gene_variant LUSC-KR 16 87429576 87429576 single base substitution C T downstream_gene_variant LUSC-KR 16 87429576 87429576 single base substitution C T intron_variant LUSC-KR 16 87430865 87430865 single base substitution G C intron_variant LUSC-KR 16 87436734 87436734 single base substitution G T 3_prime_UTR_variant LUSC-KR 16 87436734 87436734 single base substitution G T downstream_gene_variant LUSC-KR 16 87436794 87436794 single base substitution C T 3_prime_UTR_variant LUSC-KR 16 87436794 87436794 single base substitution C T downstream_gene_variant LUSC-KR 16 87436808 87436808 single base substitution G C 3_prime_UTR_variant LUSC-KR 16 87436808 87436808 single base substitution G C downstream_gene_variant LUSC-US 16 87436590 87436590 single base substitution G T 3_prime_UTR_variant LUSC-US 16 87436590 87436590 single base substitution G T downstream_gene_variant LUSC-US 16 87436590 87436590 single base substitution G T missense_variant V30F 88G>T LUSC-US 16 87436590 87436590 single base substitution G T missense_variant V89F 265G>T MALY-DE 16 87423615 87423615 single base substitution G A intron_variant MALY-DE 16 87423615 87423615 single base substitution G A upstream_gene_variant MALY-DE 16 87437091 87437091 single base substitution G A 3_prime_UTR_variant MALY-DE 16 87437091 87437091 single base substitution G A downstream_gene_variant MALY-DE 16 87441060 87441060 single base substitution T A downstream_gene_variant MALY-DE 16 87442227 87442227 single base substitution T G downstream_gene_variant MELA-AU 16 87413046 87413046 single base substitution G T upstream_gene_variant MELA-AU 16 87414802 87414802 single base substitution A T upstream_gene_variant MELA-AU 16 87415550 87415550 single base substitution A G upstream_gene_variant MELA-AU 16 87417456 87417457 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 87418003 87418003 single base substitution C T intron_variant MELA-AU 16 87418030 87418030 single base substitution C T intron_variant MELA-AU 16 87418492 87418492 single base substitution C T intron_variant MELA-AU 16 87418492 87418492 single base substitution C T upstream_gene_variant MELA-AU 16 87418520 87418520 single base substitution T C intron_variant MELA-AU 16 87418520 87418520 single base substitution T C upstream_gene_variant MELA-AU 16 87419530 87419530 single base substitution T C intron_variant MELA-AU 16 87419530 87419530 single base substitution T C upstream_gene_variant MELA-AU 16 87419669 87419669 single base substitution A G intron_variant MELA-AU 16 87419669 87419669 single base substitution A G upstream_gene_variant MELA-AU 16 87421061 87421061 single base substitution C G intron_variant MELA-AU 16 87421061 87421061 single base substitution C G upstream_gene_variant MELA-AU 16 87421539 87421539 single base substitution G A intron_variant MELA-AU 16 87421539 87421539 single base substitution G A upstream_gene_variant MELA-AU 16 87422565 87422565 single base substitution T C intron_variant MELA-AU 16 87422565 87422565 single base substitution T C upstream_gene_variant MELA-AU 16 87423433 87423433 single base substitution C T exon_variant MELA-AU 16 87423433 87423433 single base substitution C T intron_variant MELA-AU 16 87423433 87423433 single base substitution C T upstream_gene_variant MELA-AU 16 87423924 87423924 single base substitution A T intron_variant MELA-AU 16 87423924 87423924 single base substitution A T upstream_gene_variant MELA-AU 16 87425353 87425353 single base substitution G A downstream_gene_variant MELA-AU 16 87425353 87425353 single base substitution G A exon_variant MELA-AU 16 87425353 87425353 single base substitution G A upstream_gene_variant MELA-AU 16 87425674 87425674 single base substitution G C 5_prime_UTR_variant MELA-AU 16 87425674 87425674 single base substitution G C downstream_gene_variant MELA-AU 16 87425674 87425674 single base substitution G C upstream_gene_variant MELA-AU 16 87425764 87425764 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 87425764 87425764 single base substitution C T downstream_gene_variant MELA-AU 16 87425764 87425764 single base substitution C T upstream_gene_variant MELA-AU 16 87425824 87425824 single base substitution C T 5_prime_UTR_variant MELA-AU 16 87425824 87425824 single base substitution C T downstream_gene_variant MELA-AU 16 87425824 87425824 single base substitution C T upstream_gene_variant MELA-AU 16 87425858 87425858 single base substitution C T 5_prime_UTR_variant MELA-AU 16 87425858 87425858 single base substitution C T downstream_gene_variant MELA-AU 16 87425858 87425858 single base substitution C T upstream_gene_variant MELA-AU 16 87425860 87425860 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 87425860 87425860 single base substitution C T downstream_gene_variant MELA-AU 16 87425860 87425860 single base substitution C T upstream_gene_variant MELA-AU 16 87425974 87425974 single base substitution C T 5_prime_UTR_variant MELA-AU 16 87425974 87425974 single base substitution C T downstream_gene_variant MELA-AU 16 87425974 87425974 single base substitution C T upstream_gene_variant MELA-AU 16 87426867 87426867 single base substitution C T 3_prime_UTR_variant MELA-AU 16 87426867 87426867 single base substitution C T 5_prime_UTR_variant MELA-AU 16 87426867 87426867 single base substitution C T downstream_gene_variant MELA-AU 16 87426867 87426867 single base substitution C T intron_variant MELA-AU 16 87428513 87428513 single base substitution C T downstream_gene_variant MELA-AU 16 87428513 87428513 single base substitution C T intron_variant MELA-AU 16 87428676 87428676 single base substitution C T downstream_gene_variant MELA-AU 16 87428676 87428676 single base substitution C T intron_variant MELA-AU 16 87429448 87429448 single base substitution T A downstream_gene_variant MELA-AU 16 87429448 87429448 single base substitution T A intron_variant MELA-AU 16 87429497 87429497 single base substitution C T downstream_gene_variant MELA-AU 16 87429497 87429497 single base substitution C T intron_variant MELA-AU 16 87429963 87429964 multiple base substitution (>=2bp and <=200bp) CC TG downstream_gene_variant MELA-AU 16 87429963 87429964 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 16 87430105 87430105 single base substitution C T downstream_gene_variant MELA-AU 16 87430105 87430105 single base substitution C T intron_variant MELA-AU 16 87430474 87430474 single base substitution C T intron_variant MELA-AU 16 87431546 87431546 single base substitution C T intron_variant MELA-AU 16 87432188 87432188 single base substitution C T intron_variant MELA-AU 16 87433405 87433405 single base substitution A G downstream_gene_variant MELA-AU 16 87433405 87433405 single base substitution A G intron_variant MELA-AU 16 87434040 87434040 single base substitution C T downstream_gene_variant MELA-AU 16 87434040 87434040 single base substitution C T intron_variant MELA-AU 16 87434364 87434364 single base substitution G A downstream_gene_variant MELA-AU 16 87434364 87434364 single base substitution G A intron_variant MELA-AU 16 87435254 87435254 single base substitution C T downstream_gene_variant MELA-AU 16 87435254 87435254 single base substitution C T intron_variant MELA-AU 16 87436808 87436808 single base substitution G C 3_prime_UTR_variant MELA-AU 16 87436808 87436808 single base substitution G C downstream_gene_variant MELA-AU 16 87437020 87437020 single base substitution T A 3_prime_UTR_variant MELA-AU 16 87437020 87437020 single base substitution T A downstream_gene_variant MELA-AU 16 87437101 87437101 single base substitution C T 3_prime_UTR_variant MELA-AU 16 87437101 87437101 single base substitution C T downstream_gene_variant MELA-AU 16 87439346 87439346 single base substitution G A downstream_gene_variant MELA-AU 16 87439535 87439535 single base substitution G A downstream_gene_variant MELA-AU 16 87440143 87440143 single base substitution A C downstream_gene_variant MELA-AU 16 87440834 87440834 single base substitution C T downstream_gene_variant MELA-AU 16 87441126 87441126 single base substitution A G downstream_gene_variant MELA-AU 16 87441399 87441399 single base substitution C T downstream_gene_variant MELA-AU 16 87443131 87443131 single base substitution A G downstream_gene_variant ORCA-IN 16 87415695 87415695 single base substitution C G upstream_gene_variant ORCA-IN 16 87418266 87418266 single base substitution G C intron_variant ORCA-IN 16 87423269 87423269 single base substitution A C exon_variant ORCA-IN 16 87423269 87423269 single base substitution A C intron_variant ORCA-IN 16 87423269 87423269 single base substitution A C upstream_gene_variant ORCA-IN 16 87435429 87435429 deletion of <=200bp C - downstream_gene_variant ORCA-IN 16 87435429 87435429 deletion of <=200bp C - intron_variant OV-AU 16 87416746 87416746 single base substitution C T upstream_gene_variant OV-AU 16 87419081 87419081 single base substitution G A intron_variant OV-AU 16 87419081 87419081 single base substitution G A upstream_gene_variant OV-AU 16 87428165 87428165 single base substitution G A downstream_gene_variant OV-AU 16 87428165 87428165 single base substitution G A intron_variant PACA-AU 16 87416816 87416816 single base substitution A T upstream_gene_variant PACA-AU 16 87417924 87417924 single base substitution G T intron_variant PACA-AU 16 87421140 87421140 single base substitution G A intron_variant PACA-AU 16 87421140 87421140 single base substitution G A upstream_gene_variant PACA-AU 16 87423409 87423409 single base substitution C G exon_variant PACA-AU 16 87423409 87423409 single base substitution C G intron_variant PACA-AU 16 87423409 87423409 single base substitution C G upstream_gene_variant PACA-AU 16 87427712 87427712 deletion of <=200bp T - downstream_gene_variant PACA-AU 16 87427712 87427712 deletion of <=200bp T - intron_variant PACA-AU 16 87432632 87432632 single base substitution G A exon_variant PACA-AU 16 87432632 87432632 single base substitution G A intron_variant PACA-AU 16 87433670 87433670 single base substitution G A downstream_gene_variant PACA-AU 16 87433670 87433670 single base substitution G A intron_variant PACA-AU 16 87434082 87434082 single base substitution G A downstream_gene_variant PACA-AU 16 87434082 87434082 single base substitution G A intron_variant PACA-AU 16 87438844 87438844 single base substitution C T downstream_gene_variant PACA-CA 16 87413119 87413119 insertion of <=200bp - GTTTGCCCCAG upstream_gene_variant PACA-CA 16 87414017 87414017 insertion of <=200bp - T upstream_gene_variant PACA-CA 16 87414292 87414292 single base substitution G A upstream_gene_variant PACA-CA 16 87417870 87417870 single base substitution T C intron_variant PACA-CA 16 87418059 87418059 single base substitution G A intron_variant PACA-CA 16 87420163 87420163 single base substitution C G intron_variant PACA-CA 16 87420163 87420163 single base substitution C G upstream_gene_variant PACA-CA 16 87426088 87426088 single base substitution G A downstream_gene_variant PACA-CA 16 87426088 87426088 single base substitution G A exon_variant PACA-CA 16 87426088 87426088 single base substitution G A intron_variant PACA-CA 16 87426088 87426088 single base substitution G A upstream_gene_variant PACA-CA 16 87426597 87426597 single base substitution C T 3_prime_UTR_variant PACA-CA 16 87426597 87426597 single base substitution C T 5_prime_UTR_variant PACA-CA 16 87426597 87426597 single base substitution C T downstream_gene_variant PACA-CA 16 87426597 87426597 single base substitution C T intron_variant PACA-CA 16 87427528 87427528 single base substitution G A downstream_gene_variant PACA-CA 16 87427528 87427528 single base substitution G A intron_variant PACA-CA 16 87428088 87428088 single base substitution A G downstream_gene_variant PACA-CA 16 87428088 87428088 single base substitution A G intron_variant PACA-CA 16 87430303 87430303 single base substitution G A downstream_gene_variant PACA-CA 16 87430303 87430303 single base substitution G A intron_variant PACA-CA 16 87434397 87434397 single base substitution C T downstream_gene_variant PACA-CA 16 87434397 87434397 single base substitution C T intron_variant PACA-CA 16 87435653 87435653 single base substitution G C downstream_gene_variant PACA-CA 16 87435653 87435653 single base substitution G C intron_variant PACA-CA 16 87436734 87436734 single base substitution G T 3_prime_UTR_variant PACA-CA 16 87436734 87436734 single base substitution G T downstream_gene_variant PACA-CA 16 87436794 87436794 single base substitution C T 3_prime_UTR_variant PACA-CA 16 87436794 87436794 single base substitution C T downstream_gene_variant PACA-CA 16 87436808 87436808 single base substitution G C 3_prime_UTR_variant PACA-CA 16 87436808 87436808 single base substitution G C downstream_gene_variant PACA-CA 16 87438980 87438980 single base substitution G A downstream_gene_variant PACA-CA 16 87441661 87441661 single base substitution T C downstream_gene_variant PAEN-IT 16 87435910 87435910 single base substitution T C downstream_gene_variant PAEN-IT 16 87435910 87435910 single base substitution T C intron_variant PAEN-IT 16 87435910 87435910 single base substitution T C stop_lost *76Q 226T>C PBCA-DE 16 87420867 87420867 single base substitution G T intron_variant PBCA-DE 16 87420867 87420867 single base substitution G T upstream_gene_variant PBCA-DE 16 87431774 87431777 deletion of <=200bp ATGT - intron_variant PBCA-DE 16 87431779 87431779 insertion of <=200bp - CCCT intron_variant PBCA-DE 16 87432621 87432621 deletion of <=200bp T - exon_variant PBCA-DE 16 87432621 87432621 deletion of <=200bp T - intron_variant PRAD-CA 16 87436734 87436734 single base substitution G T 3_prime_UTR_variant PRAD-CA 16 87436734 87436734 single base substitution G T downstream_gene_variant PRAD-CA 16 87436764 87436764 single base substitution A G 3_prime_UTR_variant PRAD-CA 16 87436764 87436764 single base substitution A G downstream_gene_variant PRAD-UK 16 87423972 87423972 single base substitution T C intron_variant PRAD-UK 16 87423972 87423972 single base substitution T C upstream_gene_variant PRAD-UK 16 87434312 87434312 single base substitution T A downstream_gene_variant PRAD-UK 16 87434312 87434312 single base substitution T A intron_variant PRAD-UK 16 87436710 87436710 insertion of <=200bp - A 3_prime_UTR_variant PRAD-UK 16 87436710 87436710 insertion of <=200bp - A downstream_gene_variant RECA-EU 16 87421093 87421093 single base substitution C A intron_variant RECA-EU 16 87421093 87421093 single base substitution C A upstream_gene_variant RECA-EU 16 87424533 87424533 single base substitution A G intron_variant RECA-EU 16 87424533 87424533 single base substitution A G upstream_gene_variant RECA-EU 16 87425819 87425819 single base substitution G A 5_prime_UTR_variant RECA-EU 16 87425819 87425819 single base substitution G A downstream_gene_variant RECA-EU 16 87425819 87425819 single base substitution G A upstream_gene_variant RECA-EU 16 87440309 87440309 single base substitution C T downstream_gene_variant SKCA-BR 16 87413902 87413902 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 16 87417414 87417414 single base substitution G A upstream_gene_variant SKCA-BR 16 87417452 87417452 single base substitution C T upstream_gene_variant SKCA-BR 16 87417511 87417511 single base substitution C T upstream_gene_variant SKCA-BR 16 87418570 87418570 single base substitution C T intron_variant SKCA-BR 16 87418570 87418570 single base substitution C T upstream_gene_variant SKCA-BR 16 87418616 87418620 deletion of <=200bp TCAAA - intron_variant SKCA-BR 16 87418616 87418620 deletion of <=200bp TCAAA - upstream_gene_variant SKCA-BR 16 87419108 87419108 insertion of <=200bp - ATCTG intron_variant SKCA-BR 16 87419108 87419108 insertion of <=200bp - ATCTG upstream_gene_variant SKCA-BR 16 87419751 87419751 single base substitution A T intron_variant SKCA-BR 16 87419751 87419751 single base substitution A T upstream_gene_variant SKCA-BR 16 87419751 87419752 deletion of <=200bp AC - intron_variant SKCA-BR 16 87419751 87419752 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 16 87421898 87421898 single base substitution G A intron_variant SKCA-BR 16 87421898 87421898 single base substitution G A upstream_gene_variant SKCA-BR 16 87421923 87421923 single base substitution C G intron_variant SKCA-BR 16 87421923 87421923 single base substitution C G upstream_gene_variant SKCA-BR 16 87425118 87425118 single base substitution A G intron_variant SKCA-BR 16 87425118 87425118 single base substitution A G upstream_gene_variant SKCA-BR 16 87425754 87425754 single base substitution G A 5_prime_UTR_variant SKCA-BR 16 87425754 87425754 single base substitution G A downstream_gene_variant SKCA-BR 16 87425754 87425754 single base substitution G A upstream_gene_variant SKCA-BR 16 87425764 87425764 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 16 87425764 87425764 single base substitution C T downstream_gene_variant SKCA-BR 16 87425764 87425764 single base substitution C T upstream_gene_variant SKCA-BR 16 87434738 87434740 deletion of <=200bp CAA - downstream_gene_variant SKCA-BR 16 87434738 87434740 deletion of <=200bp CAA - intron_variant SKCA-BR 16 87436043 87436043 single base substitution A G 3_prime_UTR_variant SKCA-BR 16 87436043 87436043 single base substitution A G downstream_gene_variant SKCA-BR 16 87436043 87436043 single base substitution A G intron_variant SKCA-BR 16 87438388 87438388 single base substitution C T downstream_gene_variant SKCM-US 16 87417077 87417077 single base substitution G A upstream_gene_variant SKCM-US 16 87432463 87432463 single base substitution C T 3_prime_UTR_variant SKCM-US 16 87432463 87432463 single base substitution C T 5_prime_UTR_variant SKCM-US 16 87432463 87432463 single base substitution C T exon_variant SKCM-US 16 87432463 87432463 single base substitution C T missense_variant P28L 83C>T THCA-SA 16 87440895 87440895 single base substitution G A downstream_gene_variant UCEC-US 16 87432441 87432441 single base substitution C T 3_prime_UTR_variant UCEC-US 16 87432441 87432441 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 16 87432441 87432441 single base substitution C T exon_variant UCEC-US 16 87432441 87432441 single base substitution C T stop_gained R21* 61C>T UCEC-US 16 87432442 87432442 single base substitution G A 3_prime_UTR_variant UCEC-US 16 87432442 87432442 single base substitution G A 5_prime_UTR_variant UCEC-US 16 87432442 87432442 single base substitution G A exon_variant UCEC-US 16 87432442 87432442 single base substitution G A missense_variant R21Q 62G>A UCEC-US 16 87435796 87435796 single base substitution T C 3_prime_UTR_variant UCEC-US 16 87435796 87435796 single base substitution T C 5_prime_UTR_variant UCEC-US 16 87435796 87435796 single base substitution T C downstream_gene_variant UCEC-US 16 87435796 87435796 single base substitution T C missense_variant Y38H 112T>C UCEC-US 16 87436622 87436622 single base substitution T C 3_prime_UTR_variant UCEC-US 16 87436622 87436622 single base substitution T C downstream_gene_variant UCEC-US 16 87436622 87436622 single base substitution T C synonymous_variant Y40Y 120T>C UCEC-US 16 87436622 87436622 single base substitution T C synonymous_variant Y99Y 297T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC174 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + 2492718 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + XHDG32 COSM4769381 c.85A>G p.T29A Substitution - Missense 16:87398859-87398859 + 2492719 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + HCC25 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + 2492716 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + CSCC-44-T COSM974601 c.61C>T p.R21* Substitution - Nonsense 16:87398835-87398835 + T3503 COSM4700196 c.96G>A p.P32P Substitution - coding silent 16:87398870-87398870 + HCC174T COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + TCGA-BS-A0UV-01 COSM974602 c.62G>A p.R21Q Substitution - Missense 16:87398836-87398836 + 2492700 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + TCGA-D1-A103-01 COSM974603 c.112T>C p.Y38H Substitution - Missense 16:87402190-87402190 + TCGA-D1-A103-01 COSM974605 c.297T>C p.Y99Y Substitution - coding silent 16:87403016-87403016 + PT32 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + HCC31 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + TCGA-A5-A0VP-01 COSM974601 c.61C>T p.R21* Substitution - Nonsense 16:87398835-87398835 + 2492715 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + TCGA-D3-A5GU-06 COSM3513121 c.83C>T p.P28L Substitution - Missense 16:87398857-87398857 + STC252 COSM5055160 c.354G>A p.T118T Substitution - coding silent 16:87403073-87403073 + ESCC_16 COSM5625778 c.46A>G p.R16G Substitution - Missense 16:87398820-87398820 + 2492702 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + 587338 COSM1214361 c.193A>G p.K65E Substitution - Missense 16:87402271-87402271 + 2492717 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + TCGA-60-2710-01 COSM704489 c.265G>T p.V89F Substitution - Missense 16:87402984-87402984 + HCC89T COSM1609746 c.178A>G p.M60V Substitution - Missense 16:87402256-87402256 + TCGA-DI-A0WH-01 COSM974604 c.271G>A p.V91I Substitution - Missense 16:87402990-87402990 + HCC31T COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + 2492701 COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + ESCC_25 COSM5626697 c.8C>G p.S3W Substitution - Missense 16:87392435-87392435 + HCC89 COSM1609746 c.178A>G p.M60V Substitution - Missense 16:87402256-87402256 + HCC25T COSM3717123 c.338A>G p.Y113C Substitution - Missense 16:87403057-87403057 + GC_307T-GC_307N COSM4771731 c.358G>A p.G120R Substitution - Missense 16:87403077-87403077 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.356061 16q24.2 609604 2458184|CGAP|BC018634|A/T|non-coding||544|Candidate; 2458184|CGAP|BC041874|A/T|non-coding||1101|Candidate; 2458184|CGAP|BC045759|A/T|non-coding||1047|Candidate; 2458184|CGAP|BC067797|A/T|non-coding||557|Candidate; 2458187|CGAP|BC018634|A/G|non-coding||852|Confirmed; 2458187|CGAP|BC041874|A/G|non-coding||1409|Confirmed; 2458187|CGAP|BC045759|A/G|non-coding||1355|Confirmed; 2458187|CGAP|BC067797|A/G|non-coding||864|Confirmed; 2458198|CGAP|BC018634|C/G|non-coding||553|Validated; 2458198|CGAP|BC041874|C/G|non-coding||1110|Validated; 2458198|CGAP|BC045759|C/G|non-coding||1056|Validated; 2458198|CGAP|BC067797|C/G|non-coding||566|Validated; 2467166|CGAP|BC018634|C/G|non-coding||553|Validated; 2467166|CGAP|BC041874|C/G|non-coding||1110|Validated; 2467166|CGAP|BC045759|C/G|non-coding||1056|Validated; 2467166|CGAP|BC067797|C/G|non-coding||566|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C G Missense p.R21G c.61C>G 16 87432441 CM C T Nonsense p.R21* c.61C>T 16 87432441 UCEC G T Missense p.V89F c.265G>T 16 87436590 LUSC