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 5 115168301 115168301 + Missense_Mutation SNP C C T TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr5:115168301C>T c.361G>A c.(361-363)Gag>Aag p.E121K BRCA 5 115177243 115177243 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr5:115177243C>G c.7G>C c.(7-9)Gag>Cag p.E3Q CESC 5 115167552 115167552 + Silent SNP G G A TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 g.chr5:115167552G>A c.372C>T c.(370-372)ggC>ggT p.G124G CESC 5 115177250 115177250 + 5'UTR SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr5:115177250C>G GBM 5 115177086 115177087 + Splice_Site INS - - T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr5:115177086_115177087insT c.e1+1 GBM 5 115177234 115177234 + Nonsense_Mutation SNP G G A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 g.chr5:115177234G>A c.16C>T c.(16-18)Cag>Tag p.Q6* GBMLGG 5 115177086 115177087 + Splice_Site INS - - T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr5:115177086_115177087insT c.e1+1 GBMLGG 5 115177234 115177234 + Nonsense_Mutation SNP G G A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 g.chr5:115177234G>A c.16C>T c.(16-18)Cag>Tag p.Q6* LIHC 5 115177201 115177201 + Missense_Mutation SNP C C A TCGA-DD-AACM-01A-11D-A40R-10 TCGA-DD-AACM-10A-01D-A40U-10 g.chr5:115177201C>A c.49G>T c.(49-51)Gct>Tct p.A17S PRAD 5 115177236 115177236 + Missense_Mutation SNP G G A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 g.chr5:115177236G>A c.14C>T c.(13-15)cCg>cTg p.P5L SKCM 5 115168334 115168334 + Missense_Mutation SNP G G A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr5:115168334G>A c.328C>T c.(328-330)Cct>Tct p.P110S SKCM 5 115173368 115173368 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr5:115173368T>C c.257A>G c.(256-258)gAc>gGc p.D86G SKCM 5 115177142 115177142 + Silent SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:115177142A>C c.108T>G c.(106-108)tcT>tcG p.S36S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 5 115167522 115167522 single base substitution G T 3_prime_UTR_variant AML-US 5 115167522 115167522 single base substitution G T exon_variant AML-US 5 115167522 115167522 single base substitution G T stop_gained C134* 402C>A AML-US 5 115167522 115167522 single base substitution G T stop_gained C181* 543C>A BLCA-CN 5 115177080 115177080 single base substitution C T exon_variant BLCA-CN 5 115177080 115177080 single base substitution C T intron_variant BLCA-CN 5 115177080 115177080 single base substitution C T upstream_gene_variant BRCA-EU 5 115158937 115158937 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 115159205 115159205 single base substitution A T downstream_gene_variant BRCA-EU 5 115163277 115163277 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 115165016 115165016 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 115165016 115165016 single base substitution T C downstream_gene_variant BRCA-EU 5 115165672 115165672 single base substitution G T 3_prime_UTR_variant BRCA-EU 5 115165672 115165672 single base substitution G T downstream_gene_variant BRCA-EU 5 115166243 115166243 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 5 115166243 115166243 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 115166243 115166243 deletion of <=200bp T - exon_variant BRCA-EU 5 115167057 115167057 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 115167057 115167057 single base substitution G A downstream_gene_variant BRCA-EU 5 115167057 115167057 single base substitution G A exon_variant BRCA-EU 5 115168303 115168303 single base substitution T G 3_prime_UTR_variant BRCA-EU 5 115168303 115168303 single base substitution T G exon_variant BRCA-EU 5 115168303 115168303 single base substitution T G missense_variant Y120S 359A>C BRCA-EU 5 115168303 115168303 single base substitution T G missense_variant Y167S 500A>C BRCA-EU 5 115168303 115168303 single base substitution T G synonymous_variant L74L 222A>C BRCA-EU 5 115168458 115168458 single base substitution C T exon_variant BRCA-EU 5 115168458 115168458 single base substitution C T intron_variant BRCA-EU 5 115169982 115169982 deletion of <=200bp A - exon_variant BRCA-EU 5 115169982 115169982 deletion of <=200bp A - intron_variant BRCA-EU 5 115169982 115169982 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 115170652 115170652 single base substitution T C exon_variant BRCA-EU 5 115170652 115170652 single base substitution T C intron_variant BRCA-EU 5 115170652 115170652 single base substitution T C upstream_gene_variant BRCA-EU 5 115171423 115171423 single base substitution G T downstream_gene_variant BRCA-EU 5 115171423 115171423 single base substitution G T intron_variant BRCA-EU 5 115171423 115171423 single base substitution G T upstream_gene_variant BRCA-EU 5 115172704 115172704 single base substitution T A downstream_gene_variant BRCA-EU 5 115172704 115172704 single base substitution T A intron_variant BRCA-EU 5 115172704 115172704 single base substitution T A upstream_gene_variant BRCA-EU 5 115172960 115172960 single base substitution G T downstream_gene_variant BRCA-EU 5 115172960 115172960 single base substitution G T intron_variant BRCA-EU 5 115172960 115172960 single base substitution G T upstream_gene_variant BRCA-EU 5 115173039 115173039 single base substitution T C downstream_gene_variant BRCA-EU 5 115173039 115173039 single base substitution T C intron_variant BRCA-EU 5 115173039 115173039 single base substitution T C upstream_gene_variant BRCA-EU 5 115174688 115174688 single base substitution T C downstream_gene_variant BRCA-EU 5 115174688 115174688 single base substitution T C exon_variant BRCA-EU 5 115174688 115174688 single base substitution T C intron_variant BRCA-EU 5 115174688 115174688 single base substitution T C upstream_gene_variant BRCA-EU 5 115175216 115175216 single base substitution T C downstream_gene_variant BRCA-EU 5 115175216 115175216 single base substitution T C intron_variant BRCA-EU 5 115175216 115175216 single base substitution T C upstream_gene_variant BRCA-EU 5 115179820 115179820 single base substitution A T upstream_gene_variant BRCA-FR 5 115160927 115160927 single base substitution T C downstream_gene_variant BRCA-FR 5 115168458 115168458 single base substitution C T exon_variant BRCA-FR 5 115168458 115168458 single base substitution C T intron_variant BRCA-FR 5 115176793 115176793 single base substitution C G 3_prime_UTR_variant BRCA-FR 5 115176793 115176793 single base substitution C G intron_variant BRCA-FR 5 115176793 115176793 single base substitution C G upstream_gene_variant BRCA-FR 5 115179820 115179820 single base substitution A T upstream_gene_variant BRCA-US 5 115177243 115177243 single base substitution C G exon_variant BRCA-US 5 115177243 115177243 single base substitution C G missense_variant E3Q 7G>C BRCA-US 5 115177243 115177243 single base substitution C G missense_variant E50Q 148G>C BRCA-US 5 115177243 115177243 single base substitution C G upstream_gene_variant BRCA-US 5 115177425 115177425 single base substitution G T 5_prime_UTR_variant BRCA-US 5 115177425 115177425 single base substitution G T upstream_gene_variant BRCA-US 5 115177803 115177803 insertion of <=200bp - A upstream_gene_variant BTCA-JP 5 115167565 115167566 deletion of <=200bp AA - intron_variant BTCA-JP 5 115177612 115177612 single base substitution C T upstream_gene_variant BTCA-JP 5 115177621 115177621 single base substitution T G upstream_gene_variant CESC-US 5 115167552 115167552 single base substitution G A 3_prime_UTR_variant CESC-US 5 115167552 115167552 single base substitution G A exon_variant CESC-US 5 115167552 115167552 single base substitution G A synonymous_variant G124G 372C>T CESC-US 5 115167552 115167552 single base substitution G A synonymous_variant G171G 513C>T CESC-US 5 115177250 115177250 single base substitution C G 5_prime_UTR_variant CESC-US 5 115177250 115177250 single base substitution C G exon_variant CESC-US 5 115177250 115177250 single base substitution C G missense_variant K47N 141G>C CESC-US 5 115177250 115177250 single base substitution C G upstream_gene_variant CLLE-ES 5 115159319 115159319 single base substitution C A downstream_gene_variant CLLE-ES 5 115168260 115168263 deletion of <=200bp ATTT - intron_variant CLLE-ES 5 115179790 115179790 single base substitution T G upstream_gene_variant CLLE-ES 5 115182144 115182144 single base substitution T C upstream_gene_variant COCA-CN 5 115160053 115160053 single base substitution G A downstream_gene_variant COCA-CN 5 115167576 115167576 single base substitution G A intron_variant COCA-CN 5 115167896 115167896 single base substitution T A intron_variant COCA-CN 5 115177014 115177014 single base substitution T C 3_prime_UTR_variant COCA-CN 5 115177014 115177014 single base substitution T C intron_variant COCA-CN 5 115177014 115177014 single base substitution T C upstream_gene_variant COCA-CN 5 115177358 115177358 single base substitution A C 5_prime_UTR_variant COCA-CN 5 115177358 115177358 single base substitution A C missense_variant C11W 33T>G COCA-CN 5 115177358 115177358 single base substitution A C upstream_gene_variant EOPC-DE 5 115165094 115165094 single base substitution C T 3_prime_UTR_variant EOPC-DE 5 115165094 115165094 single base substitution C T downstream_gene_variant ESAD-UK 5 115160024 115160024 single base substitution C T downstream_gene_variant ESAD-UK 5 115164645 115164645 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 115164645 115164645 single base substitution C T downstream_gene_variant ESAD-UK 5 115165531 115165531 single base substitution G C 3_prime_UTR_variant ESAD-UK 5 115165531 115165531 single base substitution G C downstream_gene_variant ESAD-UK 5 115166029 115166029 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 115166029 115166029 single base substitution C T downstream_gene_variant ESAD-UK 5 115175681 115175681 insertion of <=200bp - T downstream_gene_variant ESAD-UK 5 115175681 115175681 insertion of <=200bp - T intron_variant ESAD-UK 5 115175681 115175681 insertion of <=200bp - T upstream_gene_variant ESAD-UK 5 115176643 115176643 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 5 115176643 115176643 insertion of <=200bp - A intron_variant ESAD-UK 5 115176643 115176643 insertion of <=200bp - A upstream_gene_variant ESAD-UK 5 115178993 115178993 single base substitution A C upstream_gene_variant ESAD-UK 5 115179198 115179198 single base substitution C T upstream_gene_variant ESAD-UK 5 115180986 115180986 insertion of <=200bp - A upstream_gene_variant ESAD-UK 5 115182174 115182174 insertion of <=200bp - T upstream_gene_variant ESAD-UK 5 115182532 115182532 single base substitution C T upstream_gene_variant GBM-US 5 115177234 115177234 single base substitution G A exon_variant GBM-US 5 115177234 115177234 single base substitution G A stop_gained Q53* 157C>T GBM-US 5 115177234 115177234 single base substitution G A stop_gained Q6* 16C>T GBM-US 5 115177234 115177234 single base substitution G A upstream_gene_variant GBM-US 5 115177778 115177778 single base substitution G A upstream_gene_variant KIRC-US 5 115177263 115177263 single base substitution A T 5_prime_UTR_variant KIRC-US 5 115177263 115177263 single base substitution A T missense_variant V43E 128T>A KIRC-US 5 115177263 115177263 single base substitution A T upstream_gene_variant KIRC-US 5 115177762 115177762 single base substitution A C upstream_gene_variant LGG-US 5 115177767 115177767 single base substitution C T upstream_gene_variant LICA-FR 5 115169239 115169239 single base substitution C G exon_variant LICA-FR 5 115169239 115169239 single base substitution C G intron_variant LINC-JP 5 115162071 115162071 insertion of <=200bp - T downstream_gene_variant LINC-JP 5 115167142 115167142 insertion of <=200bp - A 3_prime_UTR_variant LINC-JP 5 115167142 115167142 insertion of <=200bp - A downstream_gene_variant LINC-JP 5 115167142 115167142 insertion of <=200bp - A exon_variant LINC-JP 5 115174301 115174301 single base substitution A T downstream_gene_variant LINC-JP 5 115174301 115174301 single base substitution A T exon_variant LINC-JP 5 115174301 115174301 single base substitution A T intron_variant LINC-JP 5 115174301 115174301 single base substitution A T upstream_gene_variant LINC-JP 5 115176612 115176612 single base substitution A C 3_prime_UTR_variant LINC-JP 5 115176612 115176612 single base substitution A C exon_variant LINC-JP 5 115176612 115176612 single base substitution A C intron_variant LINC-JP 5 115176612 115176612 single base substitution A C upstream_gene_variant LINC-JP 5 115176619 115176619 single base substitution A T 3_prime_UTR_variant LINC-JP 5 115176619 115176619 single base substitution A T exon_variant LINC-JP 5 115176619 115176619 single base substitution A T intron_variant LINC-JP 5 115176619 115176619 single base substitution A T upstream_gene_variant LINC-JP 5 115177612 115177612 single base substitution C T upstream_gene_variant LIRI-JP 5 115162096 115162096 single base substitution A G downstream_gene_variant LIRI-JP 5 115163106 115163106 single base substitution T A downstream_gene_variant LIRI-JP 5 115163358 115163358 single base substitution T C downstream_gene_variant LIRI-JP 5 115163783 115163783 single base substitution T C downstream_gene_variant LIRI-JP 5 115166789 115166789 insertion of <=200bp - C 3_prime_UTR_variant LIRI-JP 5 115166789 115166789 insertion of <=200bp - C downstream_gene_variant LIRI-JP 5 115166789 115166789 insertion of <=200bp - C exon_variant LIRI-JP 5 115171716 115171716 single base substitution T C downstream_gene_variant LIRI-JP 5 115171716 115171716 single base substitution T C intron_variant LIRI-JP 5 115171716 115171716 single base substitution T C upstream_gene_variant LIRI-JP 5 115171898 115171898 single base substitution T C downstream_gene_variant LIRI-JP 5 115171898 115171898 single base substitution T C intron_variant LIRI-JP 5 115171898 115171898 single base substitution T C upstream_gene_variant LIRI-JP 5 115171999 115171999 single base substitution A C downstream_gene_variant LIRI-JP 5 115171999 115171999 single base substitution A C intron_variant LIRI-JP 5 115171999 115171999 single base substitution A C upstream_gene_variant LIRI-JP 5 115173531 115173531 single base substitution T C downstream_gene_variant LIRI-JP 5 115173531 115173531 single base substitution T C exon_variant LIRI-JP 5 115173531 115173531 single base substitution T C intron_variant LIRI-JP 5 115173531 115173531 single base substitution T C upstream_gene_variant LIRI-JP 5 115174140 115174140 single base substitution T A downstream_gene_variant LIRI-JP 5 115174140 115174140 single base substitution T A exon_variant LIRI-JP 5 115174140 115174140 single base substitution T A intron_variant LIRI-JP 5 115174140 115174140 single base substitution T A upstream_gene_variant LIRI-JP 5 115174342 115174342 single base substitution G C downstream_gene_variant LIRI-JP 5 115174342 115174342 single base substitution G C exon_variant LIRI-JP 5 115174342 115174342 single base substitution G C intron_variant LIRI-JP 5 115174342 115174342 single base substitution G C upstream_gene_variant LIRI-JP 5 115174668 115174668 single base substitution A C downstream_gene_variant LIRI-JP 5 115174668 115174668 single base substitution A C exon_variant LIRI-JP 5 115174668 115174668 single base substitution A C intron_variant LIRI-JP 5 115174668 115174668 single base substitution A C upstream_gene_variant LIRI-JP 5 115179107 115179107 single base substitution T G upstream_gene_variant LIRI-JP 5 115179500 115179500 single base substitution T G upstream_gene_variant LIRI-JP 5 115181863 115181863 single base substitution C G upstream_gene_variant LIRI-JP 5 115182135 115182135 single base substitution C T upstream_gene_variant LIRI-JP 5 115182213 115182213 single base substitution A G upstream_gene_variant LUSC-KR 5 115165847 115165847 single base substitution A C 3_prime_UTR_variant LUSC-KR 5 115165847 115165847 single base substitution A C downstream_gene_variant LUSC-KR 5 115167385 115167385 single base substitution A T 3_prime_UTR_variant LUSC-KR 5 115167385 115167385 single base substitution A T downstream_gene_variant LUSC-KR 5 115167385 115167385 single base substitution A T exon_variant LUSC-KR 5 115169612 115169612 single base substitution G A exon_variant LUSC-KR 5 115169612 115169612 single base substitution G A intron_variant LUSC-KR 5 115169612 115169612 single base substitution G A upstream_gene_variant LUSC-KR 5 115170485 115170485 single base substitution C A intron_variant LUSC-KR 5 115170485 115170485 single base substitution C A upstream_gene_variant LUSC-KR 5 115174420 115174420 single base substitution A G downstream_gene_variant LUSC-KR 5 115174420 115174420 single base substitution A G exon_variant LUSC-KR 5 115174420 115174420 single base substitution A G intron_variant LUSC-KR 5 115174420 115174420 single base substitution A G upstream_gene_variant LUSC-KR 5 115175767 115175767 single base substitution C T downstream_gene_variant LUSC-KR 5 115175767 115175767 single base substitution C T intron_variant LUSC-KR 5 115175767 115175767 single base substitution C T upstream_gene_variant LUSC-KR 5 115180637 115180637 single base substitution G C upstream_gene_variant LUSC-US 5 115177356 115177356 single base substitution T C 5_prime_UTR_variant LUSC-US 5 115177356 115177356 single base substitution T C missense_variant N12S 35A>G LUSC-US 5 115177356 115177356 single base substitution T C upstream_gene_variant MALY-DE 5 115170165 115170165 single base substitution G T intron_variant MALY-DE 5 115170165 115170165 single base substitution G T upstream_gene_variant MALY-DE 5 115177901 115177901 single base substitution G A upstream_gene_variant MALY-DE 5 115179098 115179098 single base substitution T C upstream_gene_variant MALY-DE 5 115180057 115180057 insertion of <=200bp - A upstream_gene_variant MALY-DE 5 115182214 115182214 single base substitution T C upstream_gene_variant MELA-AU 5 115158959 115158959 single base substitution A G downstream_gene_variant MELA-AU 5 115159935 115159935 single base substitution C T downstream_gene_variant MELA-AU 5 115159969 115159969 single base substitution C T downstream_gene_variant MELA-AU 5 115160008 115160008 single base substitution G A downstream_gene_variant MELA-AU 5 115160008 115160008 single base substitution G T downstream_gene_variant MELA-AU 5 115160010 115160010 single base substitution G A downstream_gene_variant MELA-AU 5 115160114 115160114 single base substitution C T downstream_gene_variant MELA-AU 5 115160341 115160341 single base substitution G A downstream_gene_variant MELA-AU 5 115161187 115161187 single base substitution G C downstream_gene_variant MELA-AU 5 115161224 115161224 single base substitution G A downstream_gene_variant MELA-AU 5 115161250 115161250 single base substitution C T downstream_gene_variant MELA-AU 5 115161432 115161432 single base substitution G A downstream_gene_variant MELA-AU 5 115161489 115161489 single base substitution G A downstream_gene_variant MELA-AU 5 115161662 115161662 single base substitution G A downstream_gene_variant MELA-AU 5 115162181 115162181 single base substitution A T downstream_gene_variant MELA-AU 5 115162422 115162422 single base substitution T A downstream_gene_variant MELA-AU 5 115162575 115162575 single base substitution T C downstream_gene_variant MELA-AU 5 115163674 115163674 single base substitution G A downstream_gene_variant MELA-AU 5 115163745 115163745 single base substitution C T downstream_gene_variant MELA-AU 5 115164251 115164251 single base substitution G A 3_prime_UTR_variant MELA-AU 5 115164251 115164251 single base substitution G A downstream_gene_variant MELA-AU 5 115164986 115164986 single base substitution T C 3_prime_UTR_variant MELA-AU 5 115164986 115164986 single base substitution T C downstream_gene_variant MELA-AU 5 115166443 115166443 single base substitution G A 3_prime_UTR_variant MELA-AU 5 115166443 115166443 single base substitution G A downstream_gene_variant MELA-AU 5 115166443 115166443 single base substitution G A exon_variant MELA-AU 5 115166996 115166996 single base substitution G A 3_prime_UTR_variant MELA-AU 5 115166996 115166996 single base substitution G A downstream_gene_variant MELA-AU 5 115166996 115166996 single base substitution G A exon_variant MELA-AU 5 115167142 115167142 single base substitution A C 3_prime_UTR_variant MELA-AU 5 115167142 115167142 single base substitution A C downstream_gene_variant MELA-AU 5 115167142 115167142 single base substitution A C exon_variant MELA-AU 5 115168782 115168782 single base substitution G A exon_variant MELA-AU 5 115168782 115168782 single base substitution G A intron_variant MELA-AU 5 115168836 115168836 single base substitution A T exon_variant MELA-AU 5 115168836 115168836 single base substitution A T intron_variant MELA-AU 5 115169294 115169294 single base substitution G A exon_variant MELA-AU 5 115169294 115169294 single base substitution G A intron_variant MELA-AU 5 115169294 115169294 single base substitution G A splice_region_variant MELA-AU 5 115169838 115169838 single base substitution G A exon_variant MELA-AU 5 115169838 115169838 single base substitution G A intron_variant MELA-AU 5 115169838 115169838 single base substitution G A upstream_gene_variant MELA-AU 5 115169854 115169854 single base substitution A G exon_variant MELA-AU 5 115169854 115169854 single base substitution A G intron_variant MELA-AU 5 115169854 115169854 single base substitution A G upstream_gene_variant MELA-AU 5 115170166 115170166 single base substitution T C intron_variant MELA-AU 5 115170166 115170166 single base substitution T C upstream_gene_variant MELA-AU 5 115171144 115171144 single base substitution G A intron_variant MELA-AU 5 115171144 115171144 single base substitution G A upstream_gene_variant MELA-AU 5 115171792 115171792 single base substitution G A downstream_gene_variant MELA-AU 5 115171792 115171792 single base substitution G A intron_variant MELA-AU 5 115171792 115171792 single base substitution G A upstream_gene_variant MELA-AU 5 115173199 115173199 single base substitution G A downstream_gene_variant MELA-AU 5 115173199 115173199 single base substitution G A intron_variant MELA-AU 5 115173199 115173199 single base substitution G A upstream_gene_variant MELA-AU 5 115174394 115174394 single base substitution G A downstream_gene_variant MELA-AU 5 115174394 115174394 single base substitution G A exon_variant MELA-AU 5 115174394 115174394 single base substitution G A intron_variant MELA-AU 5 115174394 115174394 single base substitution G A upstream_gene_variant MELA-AU 5 115174863 115174863 single base substitution T A downstream_gene_variant MELA-AU 5 115174863 115174863 single base substitution T A exon_variant MELA-AU 5 115174863 115174863 single base substitution T A intron_variant MELA-AU 5 115174863 115174863 single base substitution T A upstream_gene_variant MELA-AU 5 115174967 115174967 single base substitution A C downstream_gene_variant MELA-AU 5 115174967 115174967 single base substitution A C exon_variant MELA-AU 5 115174967 115174967 single base substitution A C intron_variant MELA-AU 5 115174967 115174967 single base substitution A C upstream_gene_variant MELA-AU 5 115175119 115175119 single base substitution C G downstream_gene_variant MELA-AU 5 115175119 115175119 single base substitution C G exon_variant MELA-AU 5 115175119 115175119 single base substitution C G intron_variant MELA-AU 5 115175119 115175119 single base substitution C G upstream_gene_variant MELA-AU 5 115175848 115175848 single base substitution A T downstream_gene_variant MELA-AU 5 115175848 115175848 single base substitution A T intron_variant MELA-AU 5 115175848 115175848 single base substitution A T upstream_gene_variant MELA-AU 5 115176643 115176643 single base substitution A G 3_prime_UTR_variant MELA-AU 5 115176643 115176643 single base substitution A G intron_variant MELA-AU 5 115176643 115176643 single base substitution A G upstream_gene_variant MELA-AU 5 115177340 115177340 single base substitution G A 5_prime_UTR_variant MELA-AU 5 115177340 115177340 single base substitution G A synonymous_variant L17L 51C>T MELA-AU 5 115177340 115177340 single base substitution G A upstream_gene_variant MELA-AU 5 115177494 115177494 single base substitution C T 5_prime_UTR_variant MELA-AU 5 115177494 115177494 single base substitution C T upstream_gene_variant MELA-AU 5 115177887 115177887 single base substitution C T upstream_gene_variant MELA-AU 5 115178522 115178522 single base substitution G A upstream_gene_variant MELA-AU 5 115179329 115179329 single base substitution C T upstream_gene_variant MELA-AU 5 115179643 115179643 single base substitution G A upstream_gene_variant MELA-AU 5 115179830 115179830 single base substitution A G upstream_gene_variant MELA-AU 5 115180540 115180540 deletion of <=200bp C - upstream_gene_variant MELA-AU 5 115181221 115181221 single base substitution A T upstream_gene_variant MELA-AU 5 115181521 115181521 single base substitution G A upstream_gene_variant MELA-AU 5 115182470 115182470 single base substitution C G upstream_gene_variant ORCA-IN 5 115161036 115161036 single base substitution C T downstream_gene_variant OV-AU 5 115161051 115161051 single base substitution G A downstream_gene_variant OV-AU 5 115162032 115162032 single base substitution G T downstream_gene_variant OV-AU 5 115162159 115162159 single base substitution G A downstream_gene_variant OV-AU 5 115162244 115162244 single base substitution C T downstream_gene_variant OV-AU 5 115172836 115172836 single base substitution G A downstream_gene_variant OV-AU 5 115172836 115172836 single base substitution G A intron_variant OV-AU 5 115172836 115172836 single base substitution G A upstream_gene_variant OV-AU 5 115181031 115181031 single base substitution C G upstream_gene_variant PACA-AU 5 115170471 115170471 single base substitution C G intron_variant PACA-AU 5 115170471 115170471 single base substitution C G upstream_gene_variant PACA-AU 5 115179227 115179227 single base substitution C A upstream_gene_variant PACA-AU 5 115179228 115179228 single base substitution T C upstream_gene_variant PACA-AU 5 115179789 115179789 deletion of <=200bp T - upstream_gene_variant PACA-AU 5 115181179 115181179 single base substitution G T upstream_gene_variant PACA-CA 5 115159364 115159364 insertion of <=200bp - T downstream_gene_variant PACA-CA 5 115159811 115159811 single base substitution G A downstream_gene_variant PACA-CA 5 115164351 115164351 single base substitution A G 3_prime_UTR_variant PACA-CA 5 115164351 115164351 single base substitution A G downstream_gene_variant PACA-CA 5 115167508 115167508 single base substitution C T 3_prime_UTR_variant PACA-CA 5 115167508 115167508 single base substitution C T exon_variant PACA-CA 5 115167508 115167508 single base substitution C T stop_gained W139* 416G>A PACA-CA 5 115167508 115167508 single base substitution C T stop_gained W186* 557G>A PACA-CA 5 115170534 115170534 single base substitution G A intron_variant PACA-CA 5 115170534 115170534 single base substitution G A upstream_gene_variant PACA-CA 5 115172516 115172516 single base substitution G A downstream_gene_variant PACA-CA 5 115172516 115172516 single base substitution G A intron_variant PACA-CA 5 115172516 115172516 single base substitution G A upstream_gene_variant PACA-CA 5 115173477 115173477 deletion of <=200bp A - downstream_gene_variant PACA-CA 5 115173477 115173477 deletion of <=200bp A - exon_variant PACA-CA 5 115173477 115173477 deletion of <=200bp A - intron_variant PACA-CA 5 115173477 115173477 deletion of <=200bp A - upstream_gene_variant PACA-CA 5 115173881 115173881 single base substitution T C downstream_gene_variant PACA-CA 5 115173881 115173881 single base substitution T C exon_variant PACA-CA 5 115173881 115173881 single base substitution T C intron_variant PACA-CA 5 115173881 115173881 single base substitution T C upstream_gene_variant PACA-CA 5 115175613 115175613 single base substitution C T downstream_gene_variant PACA-CA 5 115175613 115175613 single base substitution C T intron_variant PACA-CA 5 115175613 115175613 single base substitution C T upstream_gene_variant PACA-CA 5 115179865 115179865 single base substitution A G upstream_gene_variant PACA-CA 5 115181341 115181341 single base substitution G T upstream_gene_variant PBCA-DE 5 115168120 115168133 deletion of <=200bp CAGAACAAGAAAGT - intron_variant PBCA-DE 5 115169485 115169485 insertion of <=200bp - T exon_variant PBCA-DE 5 115169485 115169485 insertion of <=200bp - T intron_variant PBCA-DE 5 115169485 115169485 insertion of <=200bp - T upstream_gene_variant PBCA-DE 5 115173167 115173167 insertion of <=200bp - A downstream_gene_variant PBCA-DE 5 115173167 115173167 insertion of <=200bp - A intron_variant PBCA-DE 5 115173167 115173167 insertion of <=200bp - A upstream_gene_variant PRAD-CA 5 115159474 115159474 single base substitution C T downstream_gene_variant PRAD-UK 5 115170396 115170396 single base substitution A G intron_variant PRAD-UK 5 115170396 115170396 single base substitution A G upstream_gene_variant PRAD-US 5 115177236 115177236 single base substitution G A exon_variant PRAD-US 5 115177236 115177236 single base substitution G A missense_variant P52L 155C>T PRAD-US 5 115177236 115177236 single base substitution G A missense_variant P5L 14C>T PRAD-US 5 115177236 115177236 single base substitution G A upstream_gene_variant RECA-EU 5 115162431 115162431 single base substitution T C downstream_gene_variant RECA-EU 5 115165503 115165503 single base substitution G T 3_prime_UTR_variant RECA-EU 5 115165503 115165503 single base substitution G T downstream_gene_variant RECA-EU 5 115166525 115166525 single base substitution C A 3_prime_UTR_variant RECA-EU 5 115166525 115166525 single base substitution C A downstream_gene_variant RECA-EU 5 115166525 115166525 single base substitution C A exon_variant RECA-EU 5 115167353 115167353 single base substitution G A 3_prime_UTR_variant RECA-EU 5 115167353 115167353 single base substitution G A downstream_gene_variant RECA-EU 5 115167353 115167353 single base substitution G A exon_variant RECA-EU 5 115170326 115170326 single base substitution T A intron_variant RECA-EU 5 115170326 115170326 single base substitution T A upstream_gene_variant SKCA-BR 5 115159685 115159685 single base substitution C T downstream_gene_variant SKCA-BR 5 115159831 115159831 single base substitution G A downstream_gene_variant SKCA-BR 5 115163415 115163415 single base substitution G A downstream_gene_variant SKCA-BR 5 115165307 115165307 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 115165307 115165307 single base substitution G A downstream_gene_variant SKCA-BR 5 115165817 115165818 deletion of <=200bp TA - 3_prime_UTR_variant SKCA-BR 5 115165817 115165818 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 5 115169184 115169184 single base substitution T C exon_variant SKCA-BR 5 115169184 115169184 single base substitution T C intron_variant SKCA-BR 5 115171875 115171875 single base substitution G A downstream_gene_variant SKCA-BR 5 115171875 115171875 single base substitution G A intron_variant SKCA-BR 5 115171875 115171875 single base substitution G A upstream_gene_variant SKCA-BR 5 115175019 115175019 insertion of <=200bp - TGCATGCACA downstream_gene_variant SKCA-BR 5 115175019 115175019 insertion of <=200bp - TGCATGCACA exon_variant SKCA-BR 5 115175019 115175019 insertion of <=200bp - TGCATGCACA intron_variant SKCA-BR 5 115175019 115175019 insertion of <=200bp - TGCATGCACA upstream_gene_variant SKCA-BR 5 115177607 115177607 single base substitution G A upstream_gene_variant SKCA-BR 5 115177694 115177694 single base substitution G C upstream_gene_variant SKCA-BR 5 115179494 115179494 single base substitution T A upstream_gene_variant SKCA-BR 5 115182252 115182253 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 5 115182352 115182352 single base substitution C T upstream_gene_variant SKCM-US 5 115168334 115168334 single base substitution G A 3_prime_UTR_variant SKCM-US 5 115168334 115168334 single base substitution G A exon_variant SKCM-US 5 115168334 115168334 single base substitution G A missense_variant P110S 328C>T SKCM-US 5 115168334 115168334 single base substitution G A missense_variant P157S 469C>T SKCM-US 5 115168334 115168334 single base substitution G A missense_variant S64F 191C>T SKCM-US 5 115173368 115173368 single base substitution T C 3_prime_UTR_variant SKCM-US 5 115173368 115173368 single base substitution T C downstream_gene_variant SKCM-US 5 115173368 115173368 single base substitution T C exon_variant SKCM-US 5 115173368 115173368 single base substitution T C intron_variant SKCM-US 5 115173368 115173368 single base substitution T C missense_variant D133G 398A>G SKCM-US 5 115173368 115173368 single base substitution T C missense_variant D86G 257A>G SKCM-US 5 115173368 115173368 single base substitution T C upstream_gene_variant SKCM-US 5 115177142 115177142 single base substitution A C exon_variant SKCM-US 5 115177142 115177142 single base substitution A C synonymous_variant S36S 108T>G SKCM-US 5 115177142 115177142 single base substitution A C synonymous_variant S83S 249T>G SKCM-US 5 115177142 115177142 single base substitution A C upstream_gene_variant STAD-US 5 115173356 115173356 single base substitution T G 3_prime_UTR_variant STAD-US 5 115173356 115173356 single base substitution T G downstream_gene_variant STAD-US 5 115173356 115173356 single base substitution T G exon_variant STAD-US 5 115173356 115173356 single base substitution T G intron_variant STAD-US 5 115173356 115173356 single base substitution T G missense_variant K137T 410A>C STAD-US 5 115173356 115173356 single base substitution T G missense_variant K90T 269A>C STAD-US 5 115173356 115173356 single base substitution T G upstream_gene_variant STAD-US 5 115177372 115177372 single base substitution G A 5_prime_UTR_variant STAD-US 5 115177372 115177372 single base substitution G A stop_gained Q7* 19C>T STAD-US 5 115177372 115177372 single base substitution G A upstream_gene_variant THCA-SA 5 115177803 115177803 insertion of <=200bp - A upstream_gene_variant THCA-US 5 115177236 115177236 single base substitution G A exon_variant THCA-US 5 115177236 115177236 single base substitution G A missense_variant P52L 155C>T THCA-US 5 115177236 115177236 single base substitution G A missense_variant P5L 14C>T THCA-US 5 115177236 115177236 single base substitution G A upstream_gene_variant UCEC-US 5 115167544 115167544 single base substitution C A 3_prime_UTR_variant UCEC-US 5 115167544 115167544 single base substitution C A exon_variant UCEC-US 5 115167544 115167544 single base substitution C A missense_variant G127V 380G>T UCEC-US 5 115167544 115167544 single base substitution C A missense_variant G174V 521G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-76-6193-01 COSM3409670 c.157C>T p.Q53* Substitution - Nonsense 5:115841537-115841537 - TCGA-AC-A23H-01 COSM3826587 c.148G>C p.E50Q Substitution - Missense 5:115841546-115841546 - E15 COSM1619340 c.505-5delT p.? Unknown 5:115831868-115831868 - PT08_2 COSM5893026 c.385C>T p.Q129* Substitution - Nonsense 5:115837684-115837684 - 2521249 COSM1619340 c.505-5delT p.? Unknown 5:115831868-115831868 - YUWAND COSM1696064 c.211G>A p.D71N Substitution - Missense 5:115841483-115841483 - TARGET-20-PASBHI-09A-01D COSM5487201 c.543C>A p.C181* Substitution - Nonsense 5:115831825-115831825 - CSCC-16-T COSM4521218 c.151G>A p.E51K Substitution - Missense 5:115841543-115841543 - TCGA-56-5897-01 COSM735008 c.35A>G p.N12S Substitution - Missense 5:115841659-115841659 - TCGA-EE-A2GJ-06 COSM3607721 c.398A>G p.D133G Substitution - Missense 5:115837671-115837671 - TCGA-L6-A4EP-01 COSM1130962 c.155C>T p.P52L Substitution - Missense 5:115841539-115841539 - TCGA-D1-A17H-01 COSM1059870 c.70G>A p.A24T Substitution - Missense 5:115841624-115841624 - PD6722a COSM2991932 c.500A>C p.Y167S Substitution - Missense 5:115832606-115832606 - LUAD-S01315 COSM345675 c.305-2A>C p.? Unknown 5:115837766-115837766 - TCGA-HU-A4H8-01 COSM4127253 c.19C>T p.Q7* Substitution - Nonsense 5:115841675-115841675 - TCGA-BR-8589-01 COSM4127252 c.410A>C p.K137T Substitution - Missense 5:115837659-115837659 - 587336 COSM1183892 c.496C>G p.L166V Substitution - Missense 5:115832610-115832610 - 234 COSM1619340 c.505-5delT p.? Unknown 5:115831868-115831868 - TCGA-BP-4985-01 COSM481771 c.128T>A p.V43E Substitution - Missense 5:115841566-115841566 - CSCC-45-T COSM4445391 c.73C>T p.P25S Substitution - Missense 5:115841621-115841621 - TCGA-D9-A6EC-06 COSM4401553 c.249T>G p.S83S Substitution - coding silent 5:115841445-115841445 - TCGA-FS-A4F0-06 COSM3607720 c.469C>T p.P157S Substitution - Missense 5:115832637-115832637 - TCGA-42-2590-01 COSM1328310 c.80G>T p.R27I Substitution - Missense 5:115841614-115841614 - TCGA-IR-A3LA-01 COSM4845695 c.141G>C p.K47N Substitution - Missense 5:115841553-115841553 - B105-0-Tumor COSM4005828 c.304+7G>A p.? Unknown 5:115841383-115841383 - HT115 COSM2991930 c.543C>G p.C181W Substitution - Missense 5:115831825-115831825 - TCGA-A3-3320-01 COSM1495863 c.241C>G p.P81A Substitution - Missense 5:115841453-115841453 - CSCC-27-T COSM4445390 c.117C>T p.F39F Substitution - coding silent 5:115841577-115841577 - ESO-0292 COSM1240867 c.448T>C p.Y150H Substitution - Missense 5:115832658-115832658 - PT08_1 COSM5893026 c.385C>T p.Q129* Substitution - Nonsense 5:115837684-115837684 - TCGA-D1-A17H-01 COSM1059869 c.521G>T p.G174V Substitution - Missense 5:115831847-115831847 - HCC4T COSM1619341 c.505-6_505-5delTT p.? Unknown 5:115831868-115831869 - 11_FL COSM4171353 c.395T>C p.I132T Substitution - Missense 5:115837674-115837674 - 2492730 COSM5729045 c.197G>A p.G66E Substitution - Missense 5:115841497-115841497 - BN24T COSM1619340 c.505-5delT p.? Unknown 5:115831868-115831868 - TCGA-CH-5741-01 COSM1130962 c.155C>T p.P52L Substitution - Missense 5:115841539-115841539 - BD124T COSM1619341 c.505-6_505-5delTT p.? Unknown 5:115831868-115831869 - TCGA-FU-A23K-01 COSM4838509 c.513C>T p.G171G Substitution - coding silent 5:115831855-115831855 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.264482 5q21-q22 609608

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - C 3-UTRInsertion . c.420+715dupG 5 115166789 HC C A Missense p.G127V c.380G>T 5 115167544 UCEC C G Missense p.G21R c.61G>C 5 115177189 STAD G A IntronicSNV . c.164-56C>T 5 115173517 CM G A Missense p.P5L c.14C>T 5 115177236 PRAD G A Nonsense p.Q6* c.16C>T 5 115177234 GBM T C IntronicSNV . c.164-70A>G 5 115173531 HC T C Missense p.D86G c.257A>G 5 115173368 CM - T Frameshift p.I55Nfs*2 c.163dupA 5 115177087 GBM TTTCTTTTTTT - IntronicDeletion . c.363+24_363+34delAAAAAAAGAAA 5 115168265 CM