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 7 43982600 43982600 + Silent SNP T T C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr7:43982600T>C c.168T>C c.(166-168)ttT>ttC p.F56F BLCA 7 43982618 43982618 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr7:43982618C>G c.186C>G c.(184-186)ttC>ttG p.F62L COAD 7 43990226 43990226 + Silent SNP C C T TCGA-AA-3529-01A-02W-0831-10 TCGA-AA-3529-10A-01W-0831-10 g.chr7:43990226C>T c.333C>T c.(331-333)tgC>tgT p.C111C COAD 7 43990281 43990281 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:43990281G>A c.388G>A c.(388-390)Gac>Aac p.D130N COADREAD 7 43990226 43990226 + Silent SNP C C T TCGA-AA-3529-01A-02W-0831-10 TCGA-AA-3529-10A-01W-0831-10 g.chr7:43990226C>T c.333C>T c.(331-333)tgC>tgT p.C111C COADREAD 7 43990281 43990281 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:43990281G>A c.388G>A c.(388-390)Gac>Aac p.D130N GBMLGG 7 43982631 43982631 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:43982631G>T c.e4+1 GBMLGG 7 43990260 43990260 + Missense_Mutation SNP A A G TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr7:43990260A>G c.367A>G c.(367-369)Ata>Gta p.I123V HNSC 7 43992254 43992254 + Missense_Mutation SNP A A T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 g.chr7:43992254A>T c.404A>T c.(403-405)aAc>aTc p.N135I LGG 7 43982631 43982631 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:43982631G>T c.e4+1 LGG 7 43990260 43990260 + Missense_Mutation SNP A A G TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr7:43990260A>G c.367A>G c.(367-369)Ata>Gta p.I123V LUAD 7 43988301 43988301 + Missense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr7:43988301G>A c.269G>A c.(268-270)cGg>cAg p.R90Q SKCM 7 43978038 43978038 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr7:43978038C>T c.33C>T c.(31-33)acC>acT p.T11T

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 7 43990296 43990296 single base substitution G A downstream_gene_variant BLCA-CN 7 43990296 43990296 single base substitution G A intron_variant BLCA-CN 7 43990296 43990296 single base substitution G A splice_region_variant BLCA-US 7 43982600 43982600 single base substitution T C 3_prime_UTR_variant BLCA-US 7 43982600 43982600 single base substitution T C exon_variant BLCA-US 7 43982600 43982600 single base substitution T C intron_variant BLCA-US 7 43982600 43982600 single base substitution T C synonymous_variant F18F 54T>C BLCA-US 7 43982600 43982600 single base substitution T C synonymous_variant F56F 168T>C BRCA-EU 7 43961335 43961335 single base substitution A G upstream_gene_variant BRCA-EU 7 43963489 43963489 single base substitution G A upstream_gene_variant BRCA-EU 7 43963554 43963554 single base substitution T G upstream_gene_variant BRCA-EU 7 43964554 43964554 single base substitution C T upstream_gene_variant BRCA-EU 7 43965104 43965104 single base substitution T C upstream_gene_variant BRCA-EU 7 43965716 43965716 single base substitution G T upstream_gene_variant BRCA-EU 7 43966023 43966023 single base substitution C G upstream_gene_variant BRCA-EU 7 43966046 43966046 single base substitution C T 5_prime_UTR_variant BRCA-EU 7 43966046 43966046 single base substitution C T upstream_gene_variant BRCA-EU 7 43967798 43967798 deletion of <=200bp G - intron_variant BRCA-EU 7 43968034 43968034 single base substitution T A intron_variant BRCA-EU 7 43970233 43970233 single base substitution T C intron_variant BRCA-EU 7 43971823 43971823 single base substitution C T intron_variant BRCA-EU 7 43972008 43972008 single base substitution A T intron_variant BRCA-EU 7 43973129 43973129 single base substitution C G intron_variant BRCA-EU 7 43973129 43973129 single base substitution C G upstream_gene_variant BRCA-EU 7 43973463 43973463 single base substitution G C intron_variant BRCA-EU 7 43973463 43973463 single base substitution G C upstream_gene_variant BRCA-EU 7 43973476 43973476 single base substitution T C intron_variant BRCA-EU 7 43973476 43973476 single base substitution T C upstream_gene_variant BRCA-EU 7 43973673 43973673 single base substitution C T intron_variant BRCA-EU 7 43973673 43973673 single base substitution C T upstream_gene_variant BRCA-EU 7 43977756 43977756 single base substitution C T intron_variant BRCA-EU 7 43977756 43977756 single base substitution C T upstream_gene_variant BRCA-EU 7 43981902 43981902 single base substitution G A intron_variant BRCA-EU 7 43983286 43983286 single base substitution G C intron_variant BRCA-EU 7 43983286 43983286 single base substitution G C upstream_gene_variant BRCA-EU 7 43983909 43983909 single base substitution C T intron_variant BRCA-EU 7 43983909 43983909 single base substitution C T upstream_gene_variant BRCA-EU 7 43986019 43986019 insertion of <=200bp - C intron_variant BRCA-EU 7 43986019 43986019 insertion of <=200bp - C upstream_gene_variant BRCA-EU 7 43987825 43987825 single base substitution G A intron_variant BRCA-EU 7 43987825 43987825 single base substitution G A upstream_gene_variant BRCA-EU 7 43988015 43988015 single base substitution G A intron_variant BRCA-EU 7 43988015 43988015 single base substitution G A upstream_gene_variant BRCA-EU 7 43989179 43989179 single base substitution G C downstream_gene_variant BRCA-EU 7 43989179 43989179 single base substitution G C intron_variant BRCA-EU 7 43990044 43990044 single base substitution C A downstream_gene_variant BRCA-EU 7 43990044 43990044 single base substitution C A intron_variant BRCA-EU 7 43990261 43990261 single base substitution T C 3_prime_UTR_variant BRCA-EU 7 43990261 43990261 single base substitution T C downstream_gene_variant BRCA-EU 7 43990261 43990261 single base substitution T C exon_variant BRCA-EU 7 43990261 43990261 single base substitution T C intron_variant BRCA-EU 7 43990261 43990261 single base substitution T C missense_variant I123T 368T>C BRCA-EU 7 43990261 43990261 single base substitution T C missense_variant I85T 254T>C BRCA-EU 7 43990529 43990529 single base substitution C G downstream_gene_variant BRCA-EU 7 43990529 43990529 single base substitution C G intron_variant BRCA-EU 7 43991221 43991221 single base substitution C T downstream_gene_variant BRCA-EU 7 43991221 43991221 single base substitution C T intron_variant BRCA-EU 7 43991427 43991427 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 43991427 43991427 insertion of <=200bp - T intron_variant BRCA-EU 7 43992936 43992936 single base substitution G T 3_prime_UTR_variant BRCA-EU 7 43992936 43992936 single base substitution G T downstream_gene_variant BRCA-EU 7 43992979 43992979 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 43992979 43992979 single base substitution G C downstream_gene_variant BRCA-EU 7 43993049 43993049 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 43993049 43993049 single base substitution C T downstream_gene_variant BRCA-EU 7 43994584 43994584 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 43994584 43994584 single base substitution A G downstream_gene_variant BRCA-EU 7 43995548 43995548 single base substitution T A 3_prime_UTR_variant BRCA-EU 7 43995548 43995548 single base substitution T A downstream_gene_variant BRCA-EU 7 43997681 43997681 single base substitution C A downstream_gene_variant BRCA-EU 7 43997686 43997686 single base substitution G C downstream_gene_variant BRCA-EU 7 44000350 44000350 single base substitution G A downstream_gene_variant BRCA-FR 7 43964554 43964554 single base substitution C T upstream_gene_variant BRCA-FR 7 43966287 43966287 single base substitution G A intron_variant BRCA-FR 7 43971823 43971823 single base substitution C T intron_variant BRCA-FR 7 43973476 43973476 single base substitution T C intron_variant BRCA-FR 7 43973476 43973476 single base substitution T C upstream_gene_variant BRCA-FR 7 43990106 43990106 single base substitution C G downstream_gene_variant BRCA-FR 7 43990106 43990106 single base substitution C G intron_variant BRCA-FR 7 43992979 43992979 single base substitution G C 3_prime_UTR_variant BRCA-FR 7 43992979 43992979 single base substitution G C downstream_gene_variant BRCA-FR 7 43993281 43993281 single base substitution G A 3_prime_UTR_variant BRCA-FR 7 43993281 43993281 single base substitution G A downstream_gene_variant BRCA-UK 7 43968598 43968598 single base substitution G A intron_variant BRCA-UK 7 43973106 43973106 single base substitution G A intron_variant BRCA-UK 7 43973106 43973106 single base substitution G A upstream_gene_variant BRCA-UK 7 43990044 43990044 single base substitution C A downstream_gene_variant BRCA-UK 7 43990044 43990044 single base substitution C A intron_variant BTCA-JP 7 43966344 43966344 single base substitution G A intron_variant BTCA-JP 7 43982341 43982341 single base substitution G A intron_variant BTCA-JP 7 43988264 43988264 single base substitution A G 3_prime_UTR_variant BTCA-JP 7 43988264 43988264 single base substitution A G exon_variant BTCA-JP 7 43988264 43988264 single base substitution A G missense_variant I40V 118A>G BTCA-JP 7 43988264 43988264 single base substitution A G missense_variant I78V 232A>G BTCA-JP 7 43988313 43988313 single base substitution C G 3_prime_UTR_variant BTCA-JP 7 43988313 43988313 single base substitution C G downstream_gene_variant BTCA-JP 7 43988313 43988313 single base substitution C G exon_variant BTCA-JP 7 43988313 43988313 single base substitution C G missense_variant S56C 167C>G BTCA-JP 7 43988313 43988313 single base substitution C G missense_variant S94C 281C>G BTCA-JP 7 43988430 43988430 single base substitution C T 3_prime_UTR_variant BTCA-JP 7 43988430 43988430 single base substitution C T downstream_gene_variant BTCA-JP 7 43988430 43988430 single base substitution C T intron_variant BTCA-JP 7 43990216 43990216 single base substitution C T 3_prime_UTR_variant BTCA-JP 7 43990216 43990216 single base substitution C T downstream_gene_variant BTCA-JP 7 43990216 43990216 single base substitution C T exon_variant BTCA-JP 7 43990216 43990216 single base substitution C T intron_variant BTCA-JP 7 43990216 43990216 single base substitution C T missense_variant S108L 323C>T BTCA-JP 7 43990216 43990216 single base substitution C T missense_variant S70L 209C>T CESC-US 7 43982844 43982844 single base substitution C T intron_variant CESC-US 7 43991565 43991565 single base substitution A G downstream_gene_variant CESC-US 7 43991565 43991565 single base substitution A G intron_variant CESC-US 7 43992117 43992117 single base substitution C T downstream_gene_variant CESC-US 7 43992117 43992117 single base substitution C T intron_variant CLLE-ES 7 43962048 43962048 single base substitution A G upstream_gene_variant CLLE-ES 7 43980557 43980557 single base substitution A C intron_variant CLLE-ES 7 43998375 43998375 single base substitution A G downstream_gene_variant COCA-CN 7 43967613 43967613 single base substitution G C intron_variant COCA-CN 7 43967613 43967613 single base substitution G C splice_region_variant COCA-CN 7 43988319 43988319 single base substitution C T 3_prime_UTR_variant COCA-CN 7 43988319 43988319 single base substitution C T downstream_gene_variant COCA-CN 7 43988319 43988319 single base substitution C T exon_variant COCA-CN 7 43988319 43988319 single base substitution C T missense_variant A58V 173C>T COCA-CN 7 43988319 43988319 single base substitution C T missense_variant A96V 287C>T COCA-CN 7 43995968 43995968 single base substitution G A downstream_gene_variant COCA-CN 7 43996843 43996843 single base substitution A T downstream_gene_variant ESAD-UK 7 43961784 43961784 single base substitution C A upstream_gene_variant ESAD-UK 7 43961852 43961852 single base substitution G T upstream_gene_variant ESAD-UK 7 43962314 43962314 single base substitution A T upstream_gene_variant ESAD-UK 7 43963878 43963878 single base substitution C T upstream_gene_variant ESAD-UK 7 43964653 43964653 single base substitution G A upstream_gene_variant ESAD-UK 7 43966000 43966000 single base substitution G A upstream_gene_variant ESAD-UK 7 43969315 43969315 single base substitution T C intron_variant ESAD-UK 7 43969688 43969688 single base substitution C G intron_variant ESAD-UK 7 43971026 43971026 single base substitution G A intron_variant ESAD-UK 7 43971146 43971146 single base substitution A G intron_variant ESAD-UK 7 43972046 43972046 single base substitution C G intron_variant ESAD-UK 7 43972613 43972613 insertion of <=200bp - AC intron_variant ESAD-UK 7 43973674 43973676 deletion of <=200bp ATA - intron_variant ESAD-UK 7 43973674 43973676 deletion of <=200bp ATA - upstream_gene_variant ESAD-UK 7 43976193 43976193 single base substitution G A intron_variant ESAD-UK 7 43976193 43976193 single base substitution G A upstream_gene_variant ESAD-UK 7 43976641 43976641 single base substitution C A intron_variant ESAD-UK 7 43976641 43976641 single base substitution C A upstream_gene_variant ESAD-UK 7 43976715 43976715 single base substitution G A intron_variant ESAD-UK 7 43976715 43976715 single base substitution G A upstream_gene_variant ESAD-UK 7 43978499 43978499 single base substitution A C intron_variant ESAD-UK 7 43978916 43978916 single base substitution C A intron_variant ESAD-UK 7 43980008 43980008 single base substitution G A intron_variant ESAD-UK 7 43980370 43980370 single base substitution T C intron_variant ESAD-UK 7 43985243 43985243 insertion of <=200bp - A intron_variant ESAD-UK 7 43985243 43985243 insertion of <=200bp - A upstream_gene_variant ESAD-UK 7 43987251 43987251 single base substitution G T intron_variant ESAD-UK 7 43987251 43987251 single base substitution G T upstream_gene_variant ESAD-UK 7 43988647 43988647 single base substitution A C 3_prime_UTR_variant ESAD-UK 7 43988647 43988647 single base substitution A C downstream_gene_variant ESAD-UK 7 43988647 43988647 single base substitution A C intron_variant ESAD-UK 7 43990200 43990200 single base substitution C T downstream_gene_variant ESAD-UK 7 43990200 43990200 single base substitution C T intron_variant ESAD-UK 7 43990200 43990200 single base substitution C T missense_variant L103F 307C>T ESAD-UK 7 43990200 43990200 single base substitution C T missense_variant L65F 193C>T ESAD-UK 7 43990200 43990200 single base substitution C T splice_region_variant ESAD-UK 7 43991327 43991327 single base substitution G T downstream_gene_variant ESAD-UK 7 43991327 43991327 single base substitution G T intron_variant ESAD-UK 7 43995518 43995518 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 43995518 43995518 single base substitution G A downstream_gene_variant ESAD-UK 7 43995537 43995537 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 43995537 43995537 single base substitution G A downstream_gene_variant ESAD-UK 7 43997453 43997453 single base substitution C T downstream_gene_variant ESAD-UK 7 43999174 43999174 single base substitution G A downstream_gene_variant ESAD-UK 7 44000133 44000133 single base substitution G A downstream_gene_variant LGG-US 7 43990260 43990260 single base substitution A G 3_prime_UTR_variant LGG-US 7 43990260 43990260 single base substitution A G downstream_gene_variant LGG-US 7 43990260 43990260 single base substitution A G exon_variant LGG-US 7 43990260 43990260 single base substitution A G intron_variant LGG-US 7 43990260 43990260 single base substitution A G missense_variant I123V 367A>G LGG-US 7 43990260 43990260 single base substitution A G missense_variant I85V 253A>G LICA-FR 7 43962881 43962881 deletion of <=200bp T - upstream_gene_variant LICA-FR 7 43966132 43966132 single base substitution A G 5_prime_UTR_variant LICA-FR 7 43966132 43966132 single base substitution A G exon_variant LICA-FR 7 43966132 43966132 single base substitution A G start_lost M1V 1A>G LICA-FR 7 43966263 43966263 single base substitution A G intron_variant LICA-FR 7 43969025 43969025 deletion of <=200bp A - intron_variant LICA-FR 7 43971226 43971226 single base substitution T G intron_variant LICA-FR 7 43973780 43973780 single base substitution C A intron_variant LICA-FR 7 43973780 43973780 single base substitution C A upstream_gene_variant LICA-FR 7 43988251 43988251 single base substitution T G 3_prime_UTR_variant LICA-FR 7 43988251 43988251 single base substitution T G exon_variant LICA-FR 7 43988251 43988251 single base substitution T G missense_variant I35M 105T>G LICA-FR 7 43988251 43988251 single base substitution T G missense_variant I73M 219T>G LICA-FR 7 43995320 43995320 single base substitution G T 3_prime_UTR_variant LICA-FR 7 43995320 43995320 single base substitution G T downstream_gene_variant LINC-JP 7 43982359 43982359 single base substitution G A intron_variant LINC-JP 7 43992924 43992924 single base substitution T G 3_prime_UTR_variant LINC-JP 7 43992924 43992924 single base substitution T G downstream_gene_variant LINC-JP 7 43992969 43992969 single base substitution T G 3_prime_UTR_variant LINC-JP 7 43992969 43992969 single base substitution T G downstream_gene_variant LINC-JP 7 43992987 43992987 single base substitution T G 3_prime_UTR_variant LINC-JP 7 43992987 43992987 single base substitution T G downstream_gene_variant LINC-JP 7 43993024 43993024 single base substitution T A 3_prime_UTR_variant LINC-JP 7 43993024 43993024 single base substitution T A downstream_gene_variant LIRI-JP 7 43966315 43966315 single base substitution G A intron_variant LIRI-JP 7 43967459 43967459 single base substitution C T intron_variant LIRI-JP 7 43972975 43972975 single base substitution A G intron_variant LIRI-JP 7 43973138 43973138 single base substitution G A intron_variant LIRI-JP 7 43973138 43973138 single base substitution G A upstream_gene_variant LIRI-JP 7 43976304 43976304 single base substitution A T intron_variant LIRI-JP 7 43976304 43976304 single base substitution A T upstream_gene_variant LIRI-JP 7 43976312 43976312 deletion of <=200bp G - intron_variant LIRI-JP 7 43976312 43976312 deletion of <=200bp G - upstream_gene_variant LIRI-JP 7 43976412 43976412 single base substitution A T intron_variant LIRI-JP 7 43976412 43976412 single base substitution A T upstream_gene_variant LIRI-JP 7 43977377 43977377 single base substitution A C intron_variant LIRI-JP 7 43977377 43977377 single base substitution A C upstream_gene_variant LIRI-JP 7 43977846 43977846 single base substitution A G intron_variant LIRI-JP 7 43977846 43977846 single base substitution A G upstream_gene_variant LIRI-JP 7 43978647 43978647 single base substitution A G intron_variant LIRI-JP 7 43982770 43982770 single base substitution T G intron_variant LIRI-JP 7 43984048 43984048 single base substitution C A intron_variant LIRI-JP 7 43984048 43984048 single base substitution C A upstream_gene_variant LIRI-JP 7 43984140 43984140 single base substitution T A intron_variant LIRI-JP 7 43984140 43984140 single base substitution T A upstream_gene_variant LIRI-JP 7 43987279 43987279 single base substitution T C intron_variant LIRI-JP 7 43987279 43987279 single base substitution T C upstream_gene_variant LIRI-JP 7 43988904 43988904 single base substitution T A downstream_gene_variant LIRI-JP 7 43988904 43988904 single base substitution T A intron_variant LIRI-JP 7 43989623 43989623 single base substitution T G downstream_gene_variant LIRI-JP 7 43989623 43989623 single base substitution T G intron_variant LIRI-JP 7 43993304 43993304 single base substitution A C 3_prime_UTR_variant LIRI-JP 7 43993304 43993304 single base substitution A C downstream_gene_variant LIRI-JP 7 43993645 43993645 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 43993645 43993645 single base substitution T C downstream_gene_variant LIRI-JP 7 43994147 43994147 single base substitution G A 3_prime_UTR_variant LIRI-JP 7 43994147 43994147 single base substitution G A downstream_gene_variant LIRI-JP 7 43997544 43997544 single base substitution A C downstream_gene_variant LIRI-JP 7 43998136 43998136 single base substitution G A downstream_gene_variant LIRI-JP 7 43999841 43999859 deletion of <=200bp ACCAAAGAGAAGACGGTAT - downstream_gene_variant LUSC-KR 7 43973028 43973028 single base substitution A T intron_variant LUSC-KR 7 43982341 43982341 single base substitution G C intron_variant LUSC-KR 7 43983812 43983812 single base substitution T C intron_variant LUSC-KR 7 43983812 43983812 single base substitution T C upstream_gene_variant LUSC-KR 7 43986325 43986325 single base substitution C G intron_variant LUSC-KR 7 43986325 43986325 single base substitution C G upstream_gene_variant LUSC-KR 7 43987785 43987785 single base substitution C A intron_variant LUSC-KR 7 43987785 43987785 single base substitution C A upstream_gene_variant LUSC-KR 7 43998536 43998536 single base substitution A G downstream_gene_variant MALY-DE 7 43962897 43962897 single base substitution T C upstream_gene_variant MALY-DE 7 43963040 43963040 single base substitution C A upstream_gene_variant MALY-DE 7 43963479 43963479 insertion of <=200bp - T upstream_gene_variant MALY-DE 7 43964780 43964780 single base substitution G A upstream_gene_variant MALY-DE 7 43970383 43970383 single base substitution T A intron_variant MALY-DE 7 43972760 43972761 deletion of <=200bp TA - intron_variant MALY-DE 7 43985486 43985486 single base substitution A G intron_variant MALY-DE 7 43985486 43985486 single base substitution A G upstream_gene_variant MALY-DE 7 43989196 43989196 single base substitution T A downstream_gene_variant MALY-DE 7 43989196 43989196 single base substitution T A intron_variant MALY-DE 7 43992936 43992936 single base substitution G A 3_prime_UTR_variant MALY-DE 7 43992936 43992936 single base substitution G A downstream_gene_variant MALY-DE 7 43994799 43994799 single base substitution A G 3_prime_UTR_variant MALY-DE 7 43994799 43994799 single base substitution A G downstream_gene_variant MALY-DE 7 43995602 43995602 single base substitution G A 3_prime_UTR_variant MALY-DE 7 43995602 43995602 single base substitution G A downstream_gene_variant MELA-AU 7 43961713 43961713 single base substitution G A upstream_gene_variant MELA-AU 7 43961852 43961852 single base substitution G A upstream_gene_variant MELA-AU 7 43962725 43962725 single base substitution G A upstream_gene_variant MELA-AU 7 43963399 43963399 single base substitution G A upstream_gene_variant MELA-AU 7 43964288 43964288 single base substitution G A upstream_gene_variant MELA-AU 7 43964707 43964707 single base substitution A C upstream_gene_variant MELA-AU 7 43967605 43967605 single base substitution T C intron_variant MELA-AU 7 43967605 43967605 single base substitution T C splice_region_variant MELA-AU 7 43968218 43968218 single base substitution C T intron_variant MELA-AU 7 43968839 43968839 single base substitution C T intron_variant MELA-AU 7 43969298 43969298 single base substitution C T intron_variant MELA-AU 7 43969611 43969611 single base substitution C A intron_variant MELA-AU 7 43969737 43969737 single base substitution C T intron_variant MELA-AU 7 43970119 43970119 single base substitution A G intron_variant MELA-AU 7 43970482 43970482 single base substitution C T intron_variant MELA-AU 7 43970493 43970493 single base substitution G A intron_variant MELA-AU 7 43970556 43970556 single base substitution C T intron_variant MELA-AU 7 43971513 43971513 single base substitution C T intron_variant MELA-AU 7 43972262 43972262 single base substitution G A intron_variant MELA-AU 7 43972801 43972801 single base substitution A T intron_variant MELA-AU 7 43973747 43973747 single base substitution C T intron_variant MELA-AU 7 43973747 43973747 single base substitution C T upstream_gene_variant MELA-AU 7 43974650 43974650 single base substitution C T intron_variant MELA-AU 7 43974650 43974650 single base substitution C T upstream_gene_variant MELA-AU 7 43974832 43974832 single base substitution T C intron_variant MELA-AU 7 43974832 43974832 single base substitution T C upstream_gene_variant MELA-AU 7 43974905 43974905 single base substitution C T intron_variant MELA-AU 7 43974905 43974905 single base substitution C T upstream_gene_variant MELA-AU 7 43975148 43975148 single base substitution G A intron_variant MELA-AU 7 43975148 43975148 single base substitution G A upstream_gene_variant MELA-AU 7 43975193 43975193 single base substitution G A intron_variant MELA-AU 7 43975193 43975193 single base substitution G A upstream_gene_variant MELA-AU 7 43976123 43976123 single base substitution C T intron_variant MELA-AU 7 43976123 43976123 single base substitution C T upstream_gene_variant MELA-AU 7 43976464 43976464 single base substitution C T intron_variant MELA-AU 7 43976464 43976464 single base substitution C T upstream_gene_variant MELA-AU 7 43976911 43976911 single base substitution T C intron_variant MELA-AU 7 43976911 43976911 single base substitution T C upstream_gene_variant MELA-AU 7 43977010 43977011 multiple base substitution (>=2bp and <=200bp) TG AA intron_variant MELA-AU 7 43977010 43977011 multiple base substitution (>=2bp and <=200bp) TG AA upstream_gene_variant MELA-AU 7 43977065 43977065 single base substitution C T intron_variant MELA-AU 7 43977065 43977065 single base substitution C T upstream_gene_variant MELA-AU 7 43977424 43977424 single base substitution C T intron_variant MELA-AU 7 43977424 43977424 single base substitution C T upstream_gene_variant MELA-AU 7 43977533 43977533 single base substitution G A intron_variant MELA-AU 7 43977533 43977533 single base substitution G A upstream_gene_variant MELA-AU 7 43977566 43977566 single base substitution C T intron_variant MELA-AU 7 43977566 43977566 single base substitution C T upstream_gene_variant MELA-AU 7 43977946 43977946 single base substitution G A intron_variant MELA-AU 7 43977946 43977946 single base substitution G A upstream_gene_variant MELA-AU 7 43978050 43978050 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43978050 43978050 single base substitution G A 5_prime_UTR_variant MELA-AU 7 43978050 43978050 single base substitution G A exon_variant MELA-AU 7 43978050 43978050 single base substitution G A synonymous_variant R15R 45G>A MELA-AU 7 43978079 43978079 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43978079 43978079 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 7 43978079 43978079 single base substitution C T exon_variant MELA-AU 7 43978079 43978079 single base substitution C T missense_variant P25L 74C>T MELA-AU 7 43978627 43978627 single base substitution C T intron_variant MELA-AU 7 43979278 43979278 single base substitution C T intron_variant MELA-AU 7 43980593 43980593 single base substitution C T intron_variant MELA-AU 7 43980670 43980670 single base substitution C T intron_variant MELA-AU 7 43980872 43980872 single base substitution C A intron_variant MELA-AU 7 43983247 43983247 single base substitution C T intron_variant MELA-AU 7 43983247 43983247 single base substitution C T upstream_gene_variant MELA-AU 7 43983365 43983365 single base substitution C T intron_variant MELA-AU 7 43983365 43983365 single base substitution C T upstream_gene_variant MELA-AU 7 43983660 43983660 single base substitution G A intron_variant MELA-AU 7 43983660 43983660 single base substitution G A upstream_gene_variant MELA-AU 7 43984896 43984896 single base substitution G A intron_variant MELA-AU 7 43984896 43984896 single base substitution G A upstream_gene_variant MELA-AU 7 43985056 43985056 single base substitution T C intron_variant MELA-AU 7 43985056 43985056 single base substitution T C upstream_gene_variant MELA-AU 7 43986020 43986020 single base substitution C T intron_variant MELA-AU 7 43986020 43986020 single base substitution C T upstream_gene_variant MELA-AU 7 43986410 43986410 single base substitution G A intron_variant MELA-AU 7 43986410 43986410 single base substitution G A upstream_gene_variant MELA-AU 7 43986741 43986741 single base substitution T A intron_variant MELA-AU 7 43986741 43986741 single base substitution T A upstream_gene_variant MELA-AU 7 43987323 43987323 single base substitution A C intron_variant MELA-AU 7 43987323 43987323 single base substitution A C upstream_gene_variant MELA-AU 7 43988433 43988433 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43988433 43988433 single base substitution C T downstream_gene_variant MELA-AU 7 43988433 43988433 single base substitution C T intron_variant MELA-AU 7 43989413 43989413 single base substitution G A downstream_gene_variant MELA-AU 7 43989413 43989413 single base substitution G A intron_variant MELA-AU 7 43989471 43989471 single base substitution G A downstream_gene_variant MELA-AU 7 43989471 43989471 single base substitution G A intron_variant MELA-AU 7 43989517 43989517 single base substitution G A downstream_gene_variant MELA-AU 7 43989517 43989517 single base substitution G A intron_variant MELA-AU 7 43989725 43989725 single base substitution G T downstream_gene_variant MELA-AU 7 43989725 43989725 single base substitution G T intron_variant MELA-AU 7 43989763 43989763 single base substitution C T downstream_gene_variant MELA-AU 7 43989763 43989763 single base substitution C T intron_variant MELA-AU 7 43989982 43989982 single base substitution A C downstream_gene_variant MELA-AU 7 43989982 43989982 single base substitution A C intron_variant MELA-AU 7 43990007 43990007 single base substitution G A downstream_gene_variant MELA-AU 7 43990007 43990007 single base substitution G A intron_variant MELA-AU 7 43993513 43993513 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43993513 43993513 single base substitution G A downstream_gene_variant MELA-AU 7 43995058 43995058 single base substitution G A 3_prime_UTR_variant MELA-AU 7 43995058 43995058 single base substitution G A downstream_gene_variant MELA-AU 7 43995432 43995432 single base substitution G C 3_prime_UTR_variant MELA-AU 7 43995432 43995432 single base substitution G C downstream_gene_variant MELA-AU 7 43995562 43995562 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43995562 43995562 single base substitution C T downstream_gene_variant MELA-AU 7 43995637 43995637 single base substitution C T 3_prime_UTR_variant MELA-AU 7 43995637 43995637 single base substitution C T downstream_gene_variant MELA-AU 7 43995844 43995844 single base substitution G A downstream_gene_variant MELA-AU 7 43996653 43996653 single base substitution T A downstream_gene_variant MELA-AU 7 43997280 43997280 single base substitution C T downstream_gene_variant MELA-AU 7 43997513 43997513 single base substitution C T downstream_gene_variant MELA-AU 7 43997849 43997849 single base substitution C T downstream_gene_variant MELA-AU 7 43998579 43998579 single base substitution A T downstream_gene_variant MELA-AU 7 43998588 43998589 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 43998844 43998844 single base substitution C T downstream_gene_variant MELA-AU 7 43999070 43999070 single base substitution C T downstream_gene_variant MELA-AU 7 43999088 43999088 single base substitution C T downstream_gene_variant MELA-AU 7 43999287 43999287 single base substitution G A downstream_gene_variant ORCA-IN 7 43967731 43967731 single base substitution G T intron_variant ORCA-IN 7 43972121 43972121 single base substitution G T intron_variant ORCA-IN 7 43987962 43987962 single base substitution C G intron_variant ORCA-IN 7 43987962 43987962 single base substitution C G upstream_gene_variant OV-AU 7 43963040 43963040 single base substitution C T upstream_gene_variant OV-AU 7 43963167 43963167 single base substitution C T upstream_gene_variant OV-AU 7 43966273 43966273 single base substitution C A intron_variant OV-AU 7 43966943 43966943 single base substitution G T intron_variant OV-AU 7 43967949 43967949 single base substitution C A intron_variant OV-AU 7 43969473 43969473 single base substitution T A intron_variant OV-AU 7 43970551 43970551 single base substitution C G intron_variant OV-AU 7 43975652 43975652 single base substitution A T intron_variant OV-AU 7 43975652 43975652 single base substitution A T upstream_gene_variant OV-AU 7 43981402 43981402 single base substitution G A intron_variant OV-AU 7 43981913 43981913 single base substitution A C intron_variant OV-AU 7 43983434 43983434 single base substitution G T intron_variant OV-AU 7 43983434 43983434 single base substitution G T upstream_gene_variant OV-AU 7 43988038 43988038 single base substitution G A intron_variant OV-AU 7 43988038 43988038 single base substitution G A upstream_gene_variant OV-AU 7 43989882 43989882 single base substitution A G downstream_gene_variant OV-AU 7 43989882 43989882 single base substitution A G intron_variant OV-AU 7 43991166 43991166 single base substitution G C downstream_gene_variant OV-AU 7 43991166 43991166 single base substitution G C intron_variant OV-AU 7 43991886 43991886 single base substitution G A downstream_gene_variant OV-AU 7 43991886 43991886 single base substitution G A intron_variant OV-AU 7 43998219 43998219 single base substitution C A downstream_gene_variant PACA-AU 7 43972614 43972614 single base substitution C T intron_variant PACA-AU 7 43980698 43980698 single base substitution G A intron_variant PACA-AU 7 43986216 43986216 single base substitution C T intron_variant PACA-AU 7 43986216 43986216 single base substitution C T upstream_gene_variant PACA-AU 7 43990216 43990216 single base substitution C T 3_prime_UTR_variant PACA-AU 7 43990216 43990216 single base substitution C T downstream_gene_variant PACA-AU 7 43990216 43990216 single base substitution C T exon_variant PACA-AU 7 43990216 43990216 single base substitution C T intron_variant PACA-AU 7 43990216 43990216 single base substitution C T missense_variant S108L 323C>T PACA-AU 7 43990216 43990216 single base substitution C T missense_variant S70L 209C>T PACA-AU 7 43994518 43994518 single base substitution A T 3_prime_UTR_variant PACA-AU 7 43994518 43994518 single base substitution A T downstream_gene_variant PACA-AU 7 43994530 43994530 single base substitution A C 3_prime_UTR_variant PACA-AU 7 43994530 43994530 single base substitution A C downstream_gene_variant PACA-AU 7 43994975 43994975 single base substitution C T 3_prime_UTR_variant PACA-AU 7 43994975 43994975 single base substitution C T downstream_gene_variant PACA-AU 7 43998219 43998219 single base substitution C A downstream_gene_variant PACA-AU 7 43998325 43998325 deletion of <=200bp G - downstream_gene_variant PACA-AU 7 43999854 43999854 single base substitution C T downstream_gene_variant PACA-CA 7 43962140 43962140 single base substitution T A upstream_gene_variant PACA-CA 7 43964816 43964816 single base substitution G A upstream_gene_variant PACA-CA 7 43967821 43967821 single base substitution G C intron_variant PACA-CA 7 43974314 43974314 single base substitution C T intron_variant PACA-CA 7 43974314 43974314 single base substitution C T upstream_gene_variant PACA-CA 7 43978556 43978556 single base substitution G A intron_variant PACA-CA 7 43981346 43981346 single base substitution A T intron_variant PACA-CA 7 43983388 43983388 single base substitution A T intron_variant PACA-CA 7 43983388 43983388 single base substitution A T upstream_gene_variant PACA-CA 7 43985230 43985230 single base substitution C A intron_variant PACA-CA 7 43985230 43985230 single base substitution C A upstream_gene_variant PACA-CA 7 43989796 43989796 single base substitution G A downstream_gene_variant PACA-CA 7 43989796 43989796 single base substitution G A intron_variant PACA-CA 7 43990537 43990537 single base substitution G A downstream_gene_variant PACA-CA 7 43990537 43990537 single base substitution G A intron_variant PACA-CA 7 43998709 43998709 insertion of <=200bp - A downstream_gene_variant PACA-CA 7 43998788 43998788 single base substitution A G downstream_gene_variant PAEN-AU 7 43972584 43972585 deletion of <=200bp TA - intron_variant PAEN-IT 7 43971662 43971662 single base substitution A G intron_variant PAEN-IT 7 43995307 43995307 single base substitution G T 3_prime_UTR_variant PAEN-IT 7 43995307 43995307 single base substitution G T downstream_gene_variant PBCA-DE 7 43972760 43972761 deletion of <=200bp TA - intron_variant PBCA-DE 7 43985602 43985602 single base substitution C T intron_variant PBCA-DE 7 43985602 43985602 single base substitution C T upstream_gene_variant PBCA-DE 7 43987149 43987149 single base substitution G C intron_variant PBCA-DE 7 43987149 43987149 single base substitution G C upstream_gene_variant PBCA-DE 7 43989119 43989119 single base substitution C T downstream_gene_variant PBCA-DE 7 43989119 43989119 single base substitution C T intron_variant PBCA-DE 7 43989461 43989461 insertion of <=200bp - T downstream_gene_variant PBCA-DE 7 43989461 43989461 insertion of <=200bp - T intron_variant PBCA-DE 7 43997257 43997257 single base substitution A G downstream_gene_variant PRAD-CA 7 43966262 43966262 single base substitution G A intron_variant PRAD-CA 7 43972612 43972612 single base substitution T C intron_variant PRAD-UK 7 43995446 43995446 single base substitution C A 3_prime_UTR_variant PRAD-UK 7 43995446 43995446 single base substitution C A downstream_gene_variant PRAD-UK 7 43999966 43999966 single base substitution G A downstream_gene_variant READ-US 7 43982628 43982628 single base substitution A C exon_variant READ-US 7 43982628 43982628 single base substitution A C intron_variant READ-US 7 43982628 43982628 single base substitution A C missense_variant K28Q 82A>C READ-US 7 43982628 43982628 single base substitution A C missense_variant K66Q 196A>C READ-US 7 43982628 43982628 single base substitution A C splice_region_variant RECA-EU 7 43970040 43970040 single base substitution T C intron_variant RECA-EU 7 43975801 43975801 single base substitution A C intron_variant RECA-EU 7 43975801 43975801 single base substitution A C upstream_gene_variant RECA-EU 7 43997837 43997837 single base substitution G A downstream_gene_variant RECA-EU 7 43999922 43999922 single base substitution G A downstream_gene_variant SKCA-BR 7 43964963 43964963 single base substitution T C upstream_gene_variant SKCA-BR 7 43967436 43967436 single base substitution A T intron_variant SKCA-BR 7 43969047 43969047 single base substitution T A intron_variant SKCA-BR 7 43970282 43970282 single base substitution G A intron_variant SKCA-BR 7 43971217 43971217 single base substitution C G intron_variant SKCA-BR 7 43972583 43972585 deletion of <=200bp GTA - intron_variant SKCA-BR 7 43972583 43972587 deletion of <=200bp GTATA - intron_variant SKCA-BR 7 43978146 43978146 single base substitution C A intron_variant SKCA-BR 7 43980202 43980202 single base substitution A C intron_variant SKCA-BR 7 43981108 43981108 single base substitution C T intron_variant SKCA-BR 7 43983378 43983378 single base substitution G A intron_variant SKCA-BR 7 43983378 43983378 single base substitution G A upstream_gene_variant SKCA-BR 7 43984185 43984185 single base substitution T C intron_variant SKCA-BR 7 43984185 43984185 single base substitution T C upstream_gene_variant SKCA-BR 7 43996568 43996568 single base substitution G A downstream_gene_variant SKCA-BR 7 43996660 43996661 deletion of <=200bp AT - downstream_gene_variant SKCM-US 7 43978038 43978038 single base substitution C T 3_prime_UTR_variant SKCM-US 7 43978038 43978038 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 7 43978038 43978038 single base substitution C T exon_variant SKCM-US 7 43978038 43978038 single base substitution C T synonymous_variant T11T 33C>T STAD-US 7 43978042 43978042 single base substitution T C 3_prime_UTR_variant STAD-US 7 43978042 43978042 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 7 43978042 43978042 single base substitution T C exon_variant STAD-US 7 43978042 43978042 single base substitution T C synonymous_variant L13L 37T>C THCA-SA 7 43982482 43982482 single base substitution A C intron_variant THCA-SA 7 43993109 43993109 single base substitution A G 3_prime_UTR_variant THCA-SA 7 43993109 43993109 single base substitution A G downstream_gene_variant UCEC-US 7 43988248 43988248 single base substitution A C 3_prime_UTR_variant UCEC-US 7 43988248 43988248 single base substitution A C exon_variant UCEC-US 7 43988248 43988248 single base substitution A C missense_variant K34N 102A>C UCEC-US 7 43988248 43988248 single base substitution A C missense_variant K72N 216A>C UCEC-US 7 43990205 43990205 single base substitution G A 3_prime_UTR_variant UCEC-US 7 43990205 43990205 single base substitution G A downstream_gene_variant UCEC-US 7 43990205 43990205 single base substitution G A exon_variant UCEC-US 7 43990205 43990205 single base substitution G A intron_variant UCEC-US 7 43990205 43990205 single base substitution G A synonymous_variant L104L 312G>A UCEC-US 7 43990205 43990205 single base substitution G A synonymous_variant L66L 198G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC2098T COSM4788185 c.219T>G p.I73M Substitution - Missense 7:43948652-43948652 + PT48 COSM5932124 c.418G>A p.E140K Substitution - Missense 7:43952669-43952669 + BD72T COSM218924 c.323C>T p.S108L Substitution - Missense 7:43950617-43950617 + CRC-19T COSM3230626 c.287C>T p.A96V Substitution - Missense 7:43948720-43948720 + Pat_24_A COSM5872722 c.169C>T p.P57S Substitution - Missense 7:43943002-43943002 + TCGA-BR-8589-01 COSM3881159 c.37T>C p.L13L Substitution - coding silent 7:43938443-43938443 + 8064559 COSM218924 c.323C>T p.S108L Substitution - Missense 7:43950617-43950617 + TCGA-A5-A0G9-01 COSM1089861 c.387C>T p.A129A Substitution - coding silent 7:43950681-43950681 + TCGA-B5-A11N-01 COSM1089859 c.216A>C p.K72N Substitution - Missense 7:43948649-43948649 + CHC2098T COSM4788185 c.219T>G p.I73M Substitution - Missense 7:43948652-43948652 + HCA7 COSM3230629 c.324G>A p.S108S Substitution - coding silent 7:43950618-43950618 + 587350 COSM1231538 c.269G>T p.R90L Substitution - Missense 7:43948702-43948702 + Pat_24_B COSM5872722 c.169C>T p.P57S Substitution - Missense 7:43943002-43943002 + TCGA-FD-A3B5-01 COSM1313099 c.168T>C p.F56F Substitution - coding silent 7:43943001-43943001 + ESO-0950 COSM188868 c.333C>T p.C111C Substitution - coding silent 7:43950627-43950627 + PD7322a COSM5782003 c.368T>C p.I123T Substitution - Missense 7:43950662-43950662 + TCGA-B5-A11E-01 COSM1089860 c.312G>A p.L104L Substitution - coding silent 7:43950606-43950606 + BCM683T COSM4799375 c.1A>G p.M1V Substitution - Missense 7:43926533-43926533 + TCGA-FG-6692-01 COSM3929050 c.367A>G p.I123V Substitution - Missense 7:43950661-43950661 + TCGA-D1-A17Q-01 COSM1089859 c.216A>C p.K72N Substitution - Missense 7:43948649-43948649 + ESO-189 COSM1269616 c.78C>T p.V26V Substitution - coding silent 7:43938484-43938484 + 8057783 COSM218924 c.323C>T p.S108L Substitution - Missense 7:43950617-43950617 + BD9T COSM5502091 c.281C>G p.S94C Substitution - Missense 7:43948714-43948714 + B96-Tumor COSM4006712 c.398+5G>A p.? Unknown 7:43950697-43950697 + BD232T COSM5501514 c.232A>G p.I78V Substitution - Missense 7:43948665-43948665 + CHEWS011 COSM4587419 c.354C>T p.P118P Substitution - coding silent 7:43950648-43950648 + 8015271 COSM218924 c.323C>T p.S108L Substitution - Missense 7:43950617-43950617 + TCGA-F5-6814-01 COSM3431614 c.196A>C p.K66Q Substitution - Missense 7:43943029-43943029 + ICGC_0053 COSM218924 c.323C>T p.S108L Substitution - Missense 7:43950617-43950617 + TCGA-EE-A3J7-06 COSM3923644 c.33C>T p.T11T Substitution - coding silent 7:43938439-43938439 + BCM683T COSM4799375 c.1A>G p.M1V Substitution - Missense 7:43926533-43926533 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.19196 7p13

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AG GT IntronicBlockSubstitution . c.89-60_89-59delinsGT 7 43982365 CM A G Missense p.I123V c.367A>G 7 43990260 LGG C A IntronicSNV . c.198+1418C>A 7 43984048 HC C A Missense p.P40Q c.119C>A 7 43982455 LUAD C G Missense p.I84M c.252C>G 7 43988284 LUAD C T IntronicSNV . c.198+22C>T 7 43982652 CM C T Missense p.S108L c.323C>T 7 43990216 PAAD C T Synonymous p.C111C c.333C>T 7 43990226 COREAD C T Synonymous p.C111C c.333C>T 7 43990226 ESCA C T Synonymous p.F69F c.207C>T 7 43988239 LUAD C T Synonymous p.T11T c.33C>T 7 43978038 CM G A Missense p.R90Q c.269G>A 7 43988301 LUAD T C Synonymous p.F56F c.168T>C 7 43982600 BLCA T G IntronicSNV . c.198+140T>G 7 43982770 HC