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 ACC 8 48955657 48955657 + Silent SNP C C T TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr8:48955657C>T c.81C>T c.(79-81)ggC>ggT p.G27G BLCA 8 48955643 48955643 + Nonsense_Mutation SNP C C T TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr8:48955643C>T c.67C>T c.(67-69)Caa>Taa p.Q23* BLCA 8 48973350 48973350 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr8:48973350C>G c.400C>G c.(400-402)Ctt>Gtt p.L134V BRCA 8 48921029 48921029 + Splice_Site SNP A A C TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr8:48921029A>C c.15A>C c.(13-15)acA>acC p.T5T BRCA 8 48962528 48962528 + Missense_Mutation SNP C C G TCGA-E2-A1IN-01A-11D-A13L-09 TCGA-E2-A1IN-10A-01D-A188-09 g.chr8:48962528C>G c.281C>G c.(280-282)tCc>tGc p.S94C COAD 8 48955657 48955657 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr8:48955657C>T c.81C>T c.(79-81)ggC>ggT p.G27G COAD 8 48962476 48962476 + Missense_Mutation SNP C C T TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr8:48962476C>T c.229C>T c.(229-231)Cct>Tct p.P77S COADREAD 8 48955657 48955657 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr8:48955657C>T c.81C>T c.(79-81)ggC>ggT p.G27G COADREAD 8 48962476 48962476 + Missense_Mutation SNP C C T TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr8:48962476C>T c.229C>T c.(229-231)Cct>Tct p.P77S LUAD 8 48921025 48921025 + Missense_Mutation SNP C C T TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chr8:48921025C>T c.11C>T c.(10-12)tCc>tTc p.S4F LUAD 8 48962437 48962437 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr8:48962437A>T c.190A>T c.(190-192)Agc>Tgc p.S64C LUSC 8 48955617 48955617 + Missense_Mutation SNP G G T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr8:48955617G>T c.41G>T c.(40-42)cGc>cTc p.R14L SARC 8 48973359 48973359 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr8:48973359C>T c.409C>T c.(409-411)Cca>Tca p.P137S SKCM 8 48955640 48955640 + Nonsense_Mutation SNP G G T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr8:48955640G>T c.64G>T c.(64-66)Gga>Tga p.G22* SKCM 8 48962467 48962467 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr8:48962467C>A c.220C>A c.(220-222)Cca>Aca p.P74T SKCM 8 48962467 48962467 + Missense_Mutation SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr8:48962467C>T c.220C>T c.(220-222)Cca>Tca p.P74S SKCM 8 48962468 48962468 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr8:48962468C>T c.221C>T c.(220-222)cCa>cTa p.P74L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 8 48973350 48973350 single base substitution C G 3_prime_UTR_variant BLCA-US 8 48973350 48973350 single base substitution C G exon_variant BLCA-US 8 48973350 48973350 single base substitution C G missense_variant L134V 400C>G BLCA-US 8 48973350 48973350 single base substitution C G missense_variant L94V 280C>G BLCA-US 8 48973350 48973350 single base substitution C G missense_variant L97V 289C>G BRCA-EU 8 48916618 48916618 single base substitution G C upstream_gene_variant BRCA-EU 8 48916666 48916666 single base substitution G C upstream_gene_variant BRCA-EU 8 48916847 48916847 single base substitution A G upstream_gene_variant BRCA-EU 8 48917206 48917206 single base substitution T A upstream_gene_variant BRCA-EU 8 48917980 48917980 single base substitution G C upstream_gene_variant BRCA-EU 8 48918736 48918736 single base substitution G C upstream_gene_variant BRCA-EU 8 48918982 48918982 single base substitution C A upstream_gene_variant BRCA-EU 8 48919350 48919350 single base substitution C G upstream_gene_variant BRCA-EU 8 48919507 48919507 single base substitution C T upstream_gene_variant BRCA-EU 8 48919774 48919774 single base substitution C G upstream_gene_variant BRCA-EU 8 48920974 48920974 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 8 48920974 48920974 single base substitution C G upstream_gene_variant BRCA-EU 8 48921207 48921207 single base substitution G A intron_variant BRCA-EU 8 48921924 48921924 single base substitution C G intron_variant BRCA-EU 8 48922623 48922623 single base substitution A T intron_variant BRCA-EU 8 48923121 48923121 single base substitution C G intron_variant BRCA-EU 8 48923260 48923260 single base substitution T G intron_variant BRCA-EU 8 48923711 48923711 single base substitution G C intron_variant BRCA-EU 8 48923934 48923934 single base substitution C T intron_variant BRCA-EU 8 48924053 48924053 single base substitution T C intron_variant BRCA-EU 8 48924176 48924176 single base substitution C T intron_variant BRCA-EU 8 48926479 48926479 single base substitution T C intron_variant BRCA-EU 8 48926984 48926984 single base substitution C T intron_variant BRCA-EU 8 48927936 48927936 single base substitution C A intron_variant BRCA-EU 8 48927936 48927936 single base substitution C G intron_variant BRCA-EU 8 48928117 48928117 single base substitution T A intron_variant BRCA-EU 8 48928416 48928416 single base substitution A G intron_variant BRCA-EU 8 48928927 48928927 single base substitution G T intron_variant BRCA-EU 8 48930512 48930512 single base substitution C T intron_variant BRCA-EU 8 48931438 48931438 single base substitution C A intron_variant BRCA-EU 8 48932126 48932126 single base substitution C T intron_variant BRCA-EU 8 48932608 48932608 single base substitution T C intron_variant BRCA-EU 8 48932684 48932684 single base substitution G A intron_variant BRCA-EU 8 48932997 48932997 deletion of <=200bp T - intron_variant BRCA-EU 8 48934642 48934642 single base substitution A G intron_variant BRCA-EU 8 48935231 48935231 single base substitution C G intron_variant BRCA-EU 8 48935427 48935427 single base substitution G A intron_variant BRCA-EU 8 48935450 48935450 single base substitution C T intron_variant BRCA-EU 8 48938229 48938229 single base substitution G T intron_variant BRCA-EU 8 48939554 48939554 deletion of <=200bp T - intron_variant BRCA-EU 8 48941909 48941909 single base substitution C T intron_variant BRCA-EU 8 48942090 48942090 single base substitution G C intron_variant BRCA-EU 8 48944150 48944150 single base substitution G C intron_variant BRCA-EU 8 48944526 48944526 insertion of <=200bp - T intron_variant BRCA-EU 8 48944747 48944747 single base substitution C T intron_variant BRCA-EU 8 48944922 48944922 deletion of <=200bp T - intron_variant BRCA-EU 8 48945312 48945312 single base substitution A T intron_variant BRCA-EU 8 48945646 48945646 single base substitution G A intron_variant BRCA-EU 8 48945953 48945953 deletion of <=200bp C - intron_variant BRCA-EU 8 48946219 48946222 deletion of <=200bp TCTT - intron_variant BRCA-EU 8 48946436 48946436 single base substitution G C intron_variant BRCA-EU 8 48946892 48946892 single base substitution G A intron_variant BRCA-EU 8 48947136 48947136 deletion of <=200bp T - intron_variant BRCA-EU 8 48947136 48947136 insertion of <=200bp - T intron_variant BRCA-EU 8 48949369 48949369 single base substitution T G intron_variant BRCA-EU 8 48949369 48949369 single base substitution T G upstream_gene_variant BRCA-EU 8 48950652 48950652 single base substitution G A intron_variant BRCA-EU 8 48950652 48950652 single base substitution G A upstream_gene_variant BRCA-EU 8 48951105 48951105 single base substitution C T intron_variant BRCA-EU 8 48951105 48951105 single base substitution C T upstream_gene_variant BRCA-EU 8 48951928 48951928 single base substitution C G intron_variant BRCA-EU 8 48951928 48951928 single base substitution C G upstream_gene_variant BRCA-EU 8 48952125 48952125 single base substitution A C intron_variant BRCA-EU 8 48952125 48952125 single base substitution A C upstream_gene_variant BRCA-EU 8 48952291 48952291 deletion of <=200bp T - intron_variant BRCA-EU 8 48952291 48952291 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 48953203 48953203 single base substitution G A intron_variant BRCA-EU 8 48953203 48953203 single base substitution G A upstream_gene_variant BRCA-EU 8 48953366 48953366 single base substitution T G intron_variant BRCA-EU 8 48953366 48953366 single base substitution T G upstream_gene_variant BRCA-EU 8 48953550 48953550 single base substitution G A intron_variant BRCA-EU 8 48953550 48953550 single base substitution G A upstream_gene_variant BRCA-EU 8 48953829 48953833 deletion of <=200bp ATTAA - intron_variant BRCA-EU 8 48953829 48953833 deletion of <=200bp ATTAA - upstream_gene_variant BRCA-EU 8 48956326 48956326 single base substitution G T intron_variant BRCA-EU 8 48957402 48957402 single base substitution G C intron_variant BRCA-EU 8 48957402 48957402 single base substitution G C upstream_gene_variant BRCA-EU 8 48958583 48958583 single base substitution C A intron_variant BRCA-EU 8 48958583 48958583 single base substitution C A upstream_gene_variant BRCA-EU 8 48958592 48958592 single base substitution C T intron_variant BRCA-EU 8 48958592 48958592 single base substitution C T upstream_gene_variant BRCA-EU 8 48958623 48958623 single base substitution C T intron_variant BRCA-EU 8 48958623 48958623 single base substitution C T upstream_gene_variant BRCA-EU 8 48958714 48958714 single base substitution C T intron_variant BRCA-EU 8 48958714 48958714 single base substitution C T upstream_gene_variant BRCA-EU 8 48959929 48959929 single base substitution C T intron_variant BRCA-EU 8 48959929 48959929 single base substitution C T upstream_gene_variant BRCA-EU 8 48960305 48960305 single base substitution A G intron_variant BRCA-EU 8 48960305 48960305 single base substitution A G upstream_gene_variant BRCA-EU 8 48964091 48964091 single base substitution G C intron_variant BRCA-EU 8 48964441 48964441 deletion of <=200bp C - intron_variant BRCA-EU 8 48964630 48964630 single base substitution C G intron_variant BRCA-EU 8 48965869 48965869 single base substitution G T intron_variant BRCA-EU 8 48966289 48966289 deletion of <=200bp T - intron_variant BRCA-EU 8 48966616 48966616 single base substitution C T intron_variant BRCA-EU 8 48968584 48968584 single base substitution C T intron_variant BRCA-EU 8 48968810 48968810 single base substitution A G intron_variant BRCA-EU 8 48970725 48970725 single base substitution C T intron_variant BRCA-EU 8 48971721 48971721 single base substitution C T intron_variant BRCA-EU 8 48971932 48971932 single base substitution G C intron_variant BRCA-EU 8 48972299 48972299 single base substitution G C intron_variant BRCA-EU 8 48972717 48972717 single base substitution C G intron_variant BRCA-EU 8 48973563 48973563 single base substitution A T 3_prime_UTR_variant BRCA-EU 8 48973563 48973563 single base substitution A T downstream_gene_variant BRCA-EU 8 48973563 48973563 single base substitution A T exon_variant BRCA-EU 8 48974128 48974128 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 48974128 48974128 single base substitution C T downstream_gene_variant BRCA-EU 8 48975718 48975718 single base substitution C A 3_prime_UTR_variant BRCA-EU 8 48975718 48975718 single base substitution C A downstream_gene_variant BRCA-EU 8 48976774 48976774 single base substitution A G 3_prime_UTR_variant BRCA-EU 8 48976774 48976774 single base substitution A G downstream_gene_variant BRCA-EU 8 48977045 48977045 single base substitution T C 3_prime_UTR_variant BRCA-EU 8 48977045 48977045 single base substitution T C downstream_gene_variant BRCA-EU 8 48979211 48979211 single base substitution C G downstream_gene_variant BRCA-EU 8 48980592 48980592 single base substitution T A downstream_gene_variant BRCA-EU 8 48981774 48981774 single base substitution A G downstream_gene_variant BRCA-FR 8 48921924 48921924 single base substitution C G intron_variant BRCA-FR 8 48924176 48924176 single base substitution C T intron_variant BRCA-FR 8 48930512 48930512 single base substitution C T intron_variant BRCA-FR 8 48932684 48932684 single base substitution G A intron_variant BRCA-FR 8 48981380 48981380 single base substitution A G downstream_gene_variant BRCA-UK 8 48924053 48924053 single base substitution T C intron_variant BRCA-UK 8 48924470 48924470 single base substitution G A intron_variant BRCA-UK 8 48924912 48924912 single base substitution G A intron_variant BRCA-UK 8 48925522 48925522 single base substitution C T intron_variant BRCA-UK 8 48935450 48935450 single base substitution C T intron_variant BRCA-UK 8 48937410 48937410 single base substitution G C intron_variant BRCA-UK 8 48946436 48946436 single base substitution G C intron_variant BRCA-UK 8 48962911 48962911 single base substitution C T exon_variant BRCA-UK 8 48962911 48962911 single base substitution C T intron_variant BRCA-US 8 48921029 48921029 single base substitution A C 5_prime_UTR_variant BRCA-US 8 48921029 48921029 single base substitution A C missense_variant Q18P 53A>C BRCA-US 8 48921029 48921029 single base substitution A C splice_region_variant BRCA-US 8 48962528 48962528 single base substitution C G 3_prime_UTR_variant BRCA-US 8 48962528 48962528 single base substitution C G exon_variant BRCA-US 8 48962528 48962528 single base substitution C G missense_variant S54C 161C>G BRCA-US 8 48962528 48962528 single base substitution C G missense_variant S57C 170C>G BRCA-US 8 48962528 48962528 single base substitution C G missense_variant S94C 281C>G CLLE-ES 8 48960578 48960578 single base substitution C A intron_variant CLLE-ES 8 48960578 48960578 single base substitution C A upstream_gene_variant COAD-US 8 48962476 48962476 single base substitution C T 3_prime_UTR_variant COAD-US 8 48962476 48962476 single base substitution C T exon_variant COAD-US 8 48962476 48962476 single base substitution C T missense_variant P37S 109C>T COAD-US 8 48962476 48962476 single base substitution C T missense_variant P40S 118C>T COAD-US 8 48962476 48962476 single base substitution C T missense_variant P77S 229C>T COCA-CN 8 48937996 48937996 single base substitution A G intron_variant COCA-CN 8 48940728 48940728 single base substitution A T intron_variant COCA-CN 8 48948189 48948189 single base substitution T G intron_variant COCA-CN 8 48950652 48950652 single base substitution G A intron_variant COCA-CN 8 48950652 48950652 single base substitution G A upstream_gene_variant COCA-CN 8 48955746 48955746 single base substitution G A intron_variant COCA-CN 8 48955746 48955746 single base substitution G A splice_region_variant COCA-CN 8 48956923 48956923 single base substitution G A intron_variant EOPC-DE 8 48946717 48946717 single base substitution C T intron_variant ESAD-UK 8 48916733 48916733 single base substitution C A upstream_gene_variant ESAD-UK 8 48919363 48919363 single base substitution G A upstream_gene_variant ESAD-UK 8 48919567 48919567 single base substitution A G upstream_gene_variant ESAD-UK 8 48920831 48920831 single base substitution G C upstream_gene_variant ESAD-UK 8 48923555 48923555 single base substitution T G intron_variant ESAD-UK 8 48925764 48925764 single base substitution A T intron_variant ESAD-UK 8 48926551 48926551 single base substitution G C intron_variant ESAD-UK 8 48927377 48927377 single base substitution G A intron_variant ESAD-UK 8 48930918 48930918 single base substitution T C intron_variant ESAD-UK 8 48934481 48934481 single base substitution C A intron_variant ESAD-UK 8 48935456 48935456 single base substitution C T intron_variant ESAD-UK 8 48938255 48938255 single base substitution G A intron_variant ESAD-UK 8 48940314 48940314 single base substitution C T intron_variant ESAD-UK 8 48940823 48940823 single base substitution G T intron_variant ESAD-UK 8 48941704 48941704 single base substitution G T intron_variant ESAD-UK 8 48943083 48943083 single base substitution C T intron_variant ESAD-UK 8 48944612 48944612 single base substitution A T intron_variant ESAD-UK 8 48944922 48944922 deletion of <=200bp T - intron_variant ESAD-UK 8 48946210 48946210 single base substitution A G intron_variant ESAD-UK 8 48947089 48947089 single base substitution T G intron_variant ESAD-UK 8 48947973 48947973 single base substitution G A intron_variant ESAD-UK 8 48949292 48949292 single base substitution C T intron_variant ESAD-UK 8 48950345 48950345 single base substitution T C intron_variant ESAD-UK 8 48950345 48950345 single base substitution T C upstream_gene_variant ESAD-UK 8 48950830 48950830 single base substitution A C intron_variant ESAD-UK 8 48950830 48950830 single base substitution A C upstream_gene_variant ESAD-UK 8 48953092 48953092 single base substitution T C intron_variant ESAD-UK 8 48953092 48953092 single base substitution T C upstream_gene_variant ESAD-UK 8 48956881 48956881 single base substitution G T intron_variant ESAD-UK 8 48959156 48959156 single base substitution T C intron_variant ESAD-UK 8 48959156 48959156 single base substitution T C upstream_gene_variant ESAD-UK 8 48960068 48960068 deletion of <=200bp T - intron_variant ESAD-UK 8 48960068 48960068 deletion of <=200bp T - upstream_gene_variant ESAD-UK 8 48963754 48963754 single base substitution T C intron_variant ESAD-UK 8 48964390 48964390 single base substitution C G intron_variant ESAD-UK 8 48965194 48965194 single base substitution C A intron_variant ESAD-UK 8 48969620 48969620 insertion of <=200bp - T intron_variant ESAD-UK 8 48970680 48970680 single base substitution G T intron_variant ESAD-UK 8 48972297 48972297 single base substitution T A intron_variant ESAD-UK 8 48972880 48972880 single base substitution C A intron_variant ESAD-UK 8 48975089 48975089 single base substitution T A 3_prime_UTR_variant ESAD-UK 8 48975089 48975089 single base substitution T A downstream_gene_variant ESAD-UK 8 48976088 48976088 single base substitution G A 3_prime_UTR_variant ESAD-UK 8 48976088 48976088 single base substitution G A downstream_gene_variant ESAD-UK 8 48977558 48977558 single base substitution G A downstream_gene_variant ESAD-UK 8 48979810 48979810 single base substitution A G downstream_gene_variant ESAD-UK 8 48981129 48981132 deletion of <=200bp TTTA - downstream_gene_variant LAML-KR 8 48929616 48929616 single base substitution G A intron_variant LAML-KR 8 48932003 48932003 single base substitution G A intron_variant LICA-CN 8 48962420 48962420 single base substitution A G 3_prime_UTR_variant LICA-CN 8 48962420 48962420 single base substitution A G exon_variant LICA-CN 8 48962420 48962420 single base substitution A G missense_variant Y18C 53A>G LICA-CN 8 48962420 48962420 single base substitution A G missense_variant Y21C 62A>G LICA-CN 8 48962420 48962420 single base substitution A G missense_variant Y58C 173A>G LICA-FR 8 48929086 48929086 single base substitution A G intron_variant LICA-FR 8 48929289 48929289 single base substitution A C intron_variant LICA-FR 8 48943012 48943012 single base substitution G T intron_variant LICA-FR 8 48946515 48946532 deletion of <=200bp GCTAAAAAAAAGAAGAAA - intron_variant LICA-FR 8 48956222 48956222 single base substitution C G intron_variant LICA-FR 8 48962435 48962435 single base substitution A G 3_prime_UTR_variant LICA-FR 8 48962435 48962435 single base substitution A G exon_variant LICA-FR 8 48962435 48962435 single base substitution A G missense_variant Y23C 68A>G LICA-FR 8 48962435 48962435 single base substitution A G missense_variant Y26C 77A>G LICA-FR 8 48962435 48962435 single base substitution A G missense_variant Y63C 188A>G LICA-FR 8 48978180 48978180 insertion of <=200bp - T downstream_gene_variant LINC-JP 8 48916494 48916494 single base substitution A G upstream_gene_variant LINC-JP 8 48917551 48917551 deletion of <=200bp T - upstream_gene_variant LINC-JP 8 48920640 48920640 single base substitution T C upstream_gene_variant LINC-JP 8 48920642 48920642 single base substitution C G upstream_gene_variant LINC-JP 8 48921025 48921025 single base substitution C A 5_prime_UTR_variant LINC-JP 8 48921025 48921025 single base substitution C A exon_variant LINC-JP 8 48921025 48921025 single base substitution C A missense_variant P17T 49C>A LINC-JP 8 48921025 48921025 single base substitution C A missense_variant S4Y 11C>A LINC-JP 8 48928072 48928072 single base substitution A G intron_variant LINC-JP 8 48945995 48945995 single base substitution C G intron_variant LINC-JP 8 48948357 48948357 single base substitution A T intron_variant LINC-JP 8 48952617 48952617 single base substitution C T intron_variant LINC-JP 8 48952617 48952617 single base substitution C T upstream_gene_variant LINC-JP 8 48955393 48955393 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 8 48955393 48955393 single base substitution T G intron_variant LINC-JP 8 48955393 48955393 single base substitution T G upstream_gene_variant LINC-JP 8 48962336 48962336 deletion of <=200bp T - exon_variant LINC-JP 8 48962336 48962336 deletion of <=200bp T - intron_variant LINC-JP 8 48962548 48962548 single base substitution T C intron_variant LINC-JP 8 48977995 48977995 single base substitution A T downstream_gene_variant LIRI-JP 8 48920450 48920450 single base substitution C A upstream_gene_variant LIRI-JP 8 48924038 48924038 single base substitution T A intron_variant LIRI-JP 8 48925989 48925989 single base substitution T G intron_variant LIRI-JP 8 48926927 48926927 single base substitution G A intron_variant LIRI-JP 8 48928483 48928483 single base substitution A G intron_variant LIRI-JP 8 48928908 48928908 single base substitution A T intron_variant LIRI-JP 8 48929793 48929793 single base substitution A T intron_variant LIRI-JP 8 48930218 48930218 single base substitution C G intron_variant LIRI-JP 8 48932786 48932786 single base substitution G C intron_variant LIRI-JP 8 48935277 48935277 single base substitution G C intron_variant LIRI-JP 8 48936866 48936866 single base substitution A C intron_variant LIRI-JP 8 48938559 48938559 single base substitution G T intron_variant LIRI-JP 8 48939173 48939173 single base substitution A T intron_variant LIRI-JP 8 48940601 48940601 single base substitution A G intron_variant LIRI-JP 8 48942027 48942027 single base substitution A T intron_variant LIRI-JP 8 48942137 48942137 single base substitution A G intron_variant LIRI-JP 8 48942621 48942621 single base substitution A C intron_variant LIRI-JP 8 48943097 48943097 single base substitution A G intron_variant LIRI-JP 8 48943841 48943841 single base substitution A G intron_variant LIRI-JP 8 48945342 48945342 single base substitution A G intron_variant LIRI-JP 8 48951444 48951444 single base substitution T A intron_variant LIRI-JP 8 48951444 48951444 single base substitution T A upstream_gene_variant LIRI-JP 8 48951682 48951682 single base substitution A G intron_variant LIRI-JP 8 48951682 48951682 single base substitution A G upstream_gene_variant LIRI-JP 8 48952127 48952127 single base substitution G A intron_variant LIRI-JP 8 48952127 48952127 single base substitution G A upstream_gene_variant LIRI-JP 8 48952677 48952677 single base substitution A T intron_variant LIRI-JP 8 48952677 48952677 single base substitution A T upstream_gene_variant LIRI-JP 8 48952922 48952922 single base substitution T A intron_variant LIRI-JP 8 48952922 48952922 single base substitution T A upstream_gene_variant LIRI-JP 8 48953057 48953057 single base substitution T C intron_variant LIRI-JP 8 48953057 48953057 single base substitution T C upstream_gene_variant LIRI-JP 8 48953602 48953602 single base substitution T C intron_variant LIRI-JP 8 48953602 48953602 single base substitution T C upstream_gene_variant LIRI-JP 8 48955870 48955870 single base substitution A G intron_variant LIRI-JP 8 48957076 48957076 insertion of <=200bp - GT intron_variant LIRI-JP 8 48961481 48961481 single base substitution T G intron_variant LIRI-JP 8 48961481 48961481 single base substitution T G upstream_gene_variant LIRI-JP 8 48961609 48961609 single base substitution C T intron_variant LIRI-JP 8 48961609 48961609 single base substitution C T upstream_gene_variant LIRI-JP 8 48962141 48962141 single base substitution C A exon_variant LIRI-JP 8 48962141 48962141 single base substitution C A intron_variant LIRI-JP 8 48963011 48963011 single base substitution G A 3_prime_UTR_variant LIRI-JP 8 48963011 48963011 single base substitution G A intron_variant LIRI-JP 8 48963522 48963522 single base substitution C T intron_variant LIRI-JP 8 48964483 48964483 single base substitution C T intron_variant LIRI-JP 8 48966912 48966912 single base substitution G A intron_variant LIRI-JP 8 48967051 48967051 single base substitution T C intron_variant LIRI-JP 8 48971114 48971114 single base substitution G A intron_variant LIRI-JP 8 48972552 48972552 single base substitution G T intron_variant LIRI-JP 8 48972553 48972553 single base substitution C T intron_variant LIRI-JP 8 48974176 48974176 single base substitution G T 3_prime_UTR_variant LIRI-JP 8 48974176 48974176 single base substitution G T downstream_gene_variant LIRI-JP 8 48975188 48975188 single base substitution G T 3_prime_UTR_variant LIRI-JP 8 48975188 48975188 single base substitution G T downstream_gene_variant LIRI-JP 8 48975189 48975189 single base substitution G T 3_prime_UTR_variant LIRI-JP 8 48975189 48975189 single base substitution G T downstream_gene_variant LIRI-JP 8 48977824 48977824 single base substitution T G downstream_gene_variant LIRI-JP 8 48978298 48978298 single base substitution C G downstream_gene_variant LIRI-JP 8 48978524 48978524 single base substitution A G downstream_gene_variant LIRI-JP 8 48978569 48978569 single base substitution A G downstream_gene_variant LIRI-JP 8 48979012 48979012 single base substitution A G downstream_gene_variant LIRI-JP 8 48980659 48980659 single base substitution G T downstream_gene_variant LIRI-JP 8 48981075 48981075 single base substitution A C downstream_gene_variant LIRI-JP 8 48982051 48982051 single base substitution G A downstream_gene_variant LUSC-KR 8 48916115 48916115 single base substitution A T upstream_gene_variant LUSC-KR 8 48919147 48919147 single base substitution C T upstream_gene_variant LUSC-KR 8 48921417 48921417 single base substitution G T intron_variant LUSC-KR 8 48921845 48921845 single base substitution G T intron_variant LUSC-KR 8 48923268 48923268 single base substitution T G intron_variant LUSC-KR 8 48924251 48924251 single base substitution G T intron_variant LUSC-KR 8 48926137 48926137 single base substitution G T intron_variant LUSC-KR 8 48926727 48926727 single base substitution A G intron_variant LUSC-KR 8 48927232 48927232 single base substitution G T intron_variant LUSC-KR 8 48934784 48934784 single base substitution G T intron_variant LUSC-KR 8 48935238 48935238 single base substitution G T intron_variant LUSC-KR 8 48938116 48938116 single base substitution G T intron_variant LUSC-KR 8 48943542 48943542 single base substitution A G intron_variant LUSC-KR 8 48947660 48947660 single base substitution A T intron_variant LUSC-KR 8 48955837 48955837 single base substitution A T intron_variant LUSC-KR 8 48957617 48957617 single base substitution G T intron_variant LUSC-KR 8 48957617 48957617 single base substitution G T upstream_gene_variant LUSC-KR 8 48960327 48960327 single base substitution C T intron_variant LUSC-KR 8 48960327 48960327 single base substitution C T upstream_gene_variant LUSC-KR 8 48960578 48960578 single base substitution C A intron_variant LUSC-KR 8 48960578 48960578 single base substitution C A upstream_gene_variant LUSC-KR 8 48960798 48960798 single base substitution C G intron_variant LUSC-KR 8 48960798 48960798 single base substitution C G upstream_gene_variant LUSC-KR 8 48962753 48962753 single base substitution A G intron_variant LUSC-KR 8 48965529 48965529 single base substitution A G intron_variant LUSC-KR 8 48966606 48966606 single base substitution C T intron_variant LUSC-KR 8 48966792 48966792 single base substitution C G intron_variant LUSC-KR 8 48966868 48966868 single base substitution C G intron_variant LUSC-KR 8 48967605 48967605 single base substitution C T intron_variant LUSC-KR 8 48967734 48967734 single base substitution C G intron_variant LUSC-KR 8 48968317 48968317 single base substitution A C intron_variant LUSC-KR 8 48970755 48970755 single base substitution G A intron_variant LUSC-KR 8 48976547 48976547 single base substitution G T 3_prime_UTR_variant LUSC-KR 8 48976547 48976547 single base substitution G T downstream_gene_variant LUSC-KR 8 48977440 48977440 single base substitution C T downstream_gene_variant LUSC-KR 8 48980348 48980348 single base substitution C T downstream_gene_variant LUSC-US 8 48955617 48955617 single base substitution G T 5_prime_UTR_variant LUSC-US 8 48955617 48955617 single base substitution G T exon_variant LUSC-US 8 48955617 48955617 single base substitution G T intron_variant LUSC-US 8 48955617 48955617 single base substitution G T missense_variant R14L 41G>T MALY-DE 8 48940902 48940902 single base substitution T C intron_variant MALY-DE 8 48947661 48947670 deletion of <=200bp TTTATTCTTT - intron_variant MALY-DE 8 48951537 48951537 single base substitution G A intron_variant MALY-DE 8 48951537 48951537 single base substitution G A upstream_gene_variant MALY-DE 8 48959954 48959954 single base substitution T A intron_variant MALY-DE 8 48959954 48959954 single base substitution T A upstream_gene_variant MALY-DE 8 48966153 48966153 single base substitution T G intron_variant MALY-DE 8 48968646 48968646 single base substitution T C intron_variant MALY-DE 8 48980423 48980423 insertion of <=200bp - TAA downstream_gene_variant MALY-DE 8 48980423 48980425 deletion of <=200bp TAA - downstream_gene_variant MELA-AU 8 48916034 48916034 single base substitution G A upstream_gene_variant MELA-AU 8 48916339 48916339 single base substitution A G upstream_gene_variant MELA-AU 8 48916349 48916349 single base substitution C T upstream_gene_variant MELA-AU 8 48916511 48916511 single base substitution A G upstream_gene_variant MELA-AU 8 48916710 48916710 single base substitution T C upstream_gene_variant MELA-AU 8 48916743 48916743 single base substitution G A upstream_gene_variant MELA-AU 8 48916803 48916803 single base substitution A G upstream_gene_variant MELA-AU 8 48917303 48917303 single base substitution C T upstream_gene_variant MELA-AU 8 48917766 48917766 single base substitution C T upstream_gene_variant MELA-AU 8 48917802 48917802 single base substitution C T upstream_gene_variant MELA-AU 8 48917899 48917899 single base substitution G A upstream_gene_variant MELA-AU 8 48917999 48917999 single base substitution T A upstream_gene_variant MELA-AU 8 48918808 48918808 single base substitution C T upstream_gene_variant MELA-AU 8 48918829 48918829 single base substitution G A upstream_gene_variant MELA-AU 8 48919001 48919001 single base substitution G C upstream_gene_variant MELA-AU 8 48919884 48919884 single base substitution C T upstream_gene_variant MELA-AU 8 48920672 48920672 single base substitution G A upstream_gene_variant MELA-AU 8 48920955 48920955 single base substitution G A upstream_gene_variant MELA-AU 8 48921976 48921977 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 48922227 48922227 single base substitution A G intron_variant MELA-AU 8 48922592 48922592 single base substitution C T intron_variant MELA-AU 8 48922936 48922936 single base substitution T A intron_variant MELA-AU 8 48923349 48923349 single base substitution C T intron_variant MELA-AU 8 48924023 48924023 single base substitution C T intron_variant MELA-AU 8 48924506 48924506 single base substitution C A intron_variant MELA-AU 8 48925408 48925408 single base substitution C T intron_variant MELA-AU 8 48925795 48925795 single base substitution C T intron_variant MELA-AU 8 48926085 48926085 single base substitution G A intron_variant MELA-AU 8 48926164 48926164 single base substitution C T intron_variant MELA-AU 8 48926312 48926312 single base substitution T A intron_variant MELA-AU 8 48927087 48927087 single base substitution C G intron_variant MELA-AU 8 48927352 48927352 single base substitution C T intron_variant MELA-AU 8 48927390 48927390 single base substitution C T intron_variant MELA-AU 8 48927745 48927745 single base substitution C A intron_variant MELA-AU 8 48928006 48928006 single base substitution T G intron_variant MELA-AU 8 48928576 48928576 single base substitution G C intron_variant MELA-AU 8 48929084 48929084 single base substitution C T intron_variant MELA-AU 8 48929146 48929146 single base substitution A G intron_variant MELA-AU 8 48930223 48930223 single base substitution G A intron_variant MELA-AU 8 48930393 48930393 single base substitution T C intron_variant MELA-AU 8 48930441 48930441 single base substitution C T intron_variant MELA-AU 8 48931115 48931115 single base substitution C T intron_variant MELA-AU 8 48932580 48932580 single base substitution C A intron_variant MELA-AU 8 48933008 48933008 single base substitution C T intron_variant MELA-AU 8 48933092 48933092 single base substitution C T intron_variant MELA-AU 8 48933320 48933320 single base substitution C T intron_variant MELA-AU 8 48933388 48933388 single base substitution C T intron_variant MELA-AU 8 48933548 48933548 single base substitution T C intron_variant MELA-AU 8 48934412 48934412 single base substitution T C intron_variant MELA-AU 8 48934647 48934647 single base substitution C T intron_variant MELA-AU 8 48934921 48934921 single base substitution C T intron_variant MELA-AU 8 48935378 48935378 single base substitution T C intron_variant MELA-AU 8 48935738 48935738 single base substitution C T intron_variant MELA-AU 8 48936348 48936348 single base substitution A C intron_variant MELA-AU 8 48937114 48937114 single base substitution C T intron_variant MELA-AU 8 48938248 48938248 single base substitution C T intron_variant MELA-AU 8 48938355 48938355 single base substitution T C intron_variant MELA-AU 8 48938395 48938395 single base substitution C T intron_variant MELA-AU 8 48938668 48938669 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 8 48938869 48938869 single base substitution C T intron_variant MELA-AU 8 48939159 48939159 single base substitution C T intron_variant MELA-AU 8 48939252 48939252 single base substitution C T intron_variant MELA-AU 8 48940317 48940318 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 48941239 48941239 single base substitution T C intron_variant MELA-AU 8 48941242 48941242 single base substitution C T intron_variant MELA-AU 8 48942171 48942172 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 48943180 48943180 single base substitution C T intron_variant MELA-AU 8 48943235 48943235 single base substitution C T intron_variant MELA-AU 8 48943413 48943413 single base substitution C T intron_variant MELA-AU 8 48943644 48943644 single base substitution C T intron_variant MELA-AU 8 48943790 48943790 single base substitution C T intron_variant MELA-AU 8 48944071 48944071 single base substitution G A intron_variant MELA-AU 8 48944356 48944356 single base substitution C T intron_variant MELA-AU 8 48944533 48944533 single base substitution C T intron_variant MELA-AU 8 48945762 48945762 single base substitution C T intron_variant MELA-AU 8 48945781 48945781 single base substitution C T intron_variant MELA-AU 8 48947134 48947134 single base substitution C T intron_variant MELA-AU 8 48948994 48948994 single base substitution A T intron_variant MELA-AU 8 48949373 48949373 single base substitution G T intron_variant MELA-AU 8 48949373 48949373 single base substitution G T upstream_gene_variant MELA-AU 8 48949505 48949505 single base substitution C T intron_variant MELA-AU 8 48949505 48949505 single base substitution C T upstream_gene_variant MELA-AU 8 48950445 48950445 single base substitution C T intron_variant MELA-AU 8 48950445 48950445 single base substitution C T upstream_gene_variant MELA-AU 8 48950538 48950538 single base substitution C T intron_variant MELA-AU 8 48950538 48950538 single base substitution C T upstream_gene_variant MELA-AU 8 48952083 48952083 single base substitution C T intron_variant MELA-AU 8 48952083 48952083 single base substitution C T upstream_gene_variant MELA-AU 8 48952269 48952269 single base substitution C T intron_variant MELA-AU 8 48952269 48952269 single base substitution C T upstream_gene_variant MELA-AU 8 48952366 48952366 single base substitution C T intron_variant MELA-AU 8 48952366 48952366 single base substitution C T upstream_gene_variant MELA-AU 8 48953453 48953453 single base substitution C T intron_variant MELA-AU 8 48953453 48953453 single base substitution C T upstream_gene_variant MELA-AU 8 48953961 48953961 single base substitution G A intron_variant MELA-AU 8 48953961 48953961 single base substitution G A upstream_gene_variant MELA-AU 8 48954524 48954524 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 8 48954524 48954524 single base substitution C T intron_variant MELA-AU 8 48954524 48954524 single base substitution C T upstream_gene_variant MELA-AU 8 48955612 48955612 single base substitution T A 5_prime_UTR_variant MELA-AU 8 48955612 48955612 single base substitution T A exon_variant MELA-AU 8 48955612 48955612 single base substitution T A intron_variant MELA-AU 8 48955612 48955612 single base substitution T A missense_variant N12K 36T>A MELA-AU 8 48956827 48956827 single base substitution C T intron_variant MELA-AU 8 48957037 48957037 single base substitution A T intron_variant MELA-AU 8 48957139 48957139 single base substitution A G intron_variant MELA-AU 8 48957144 48957144 single base substitution C T intron_variant MELA-AU 8 48957144 48957144 single base substitution C T upstream_gene_variant MELA-AU 8 48957172 48957172 single base substitution C T intron_variant MELA-AU 8 48957172 48957172 single base substitution C T upstream_gene_variant MELA-AU 8 48957401 48957401 single base substitution C T intron_variant MELA-AU 8 48957401 48957401 single base substitution C T upstream_gene_variant MELA-AU 8 48957652 48957652 single base substitution C T intron_variant MELA-AU 8 48957652 48957652 single base substitution C T upstream_gene_variant MELA-AU 8 48957696 48957696 single base substitution C T intron_variant MELA-AU 8 48957696 48957696 single base substitution C T upstream_gene_variant MELA-AU 8 48957729 48957729 single base substitution G A intron_variant MELA-AU 8 48957729 48957729 single base substitution G A upstream_gene_variant MELA-AU 8 48957998 48957998 single base substitution T A intron_variant MELA-AU 8 48957998 48957998 single base substitution T A upstream_gene_variant MELA-AU 8 48958460 48958460 single base substitution C T intron_variant MELA-AU 8 48958460 48958460 single base substitution C T upstream_gene_variant MELA-AU 8 48961034 48961035 multiple base substitution (>=2bp and <=200bp) TG AA intron_variant MELA-AU 8 48961034 48961035 multiple base substitution (>=2bp and <=200bp) TG AA upstream_gene_variant MELA-AU 8 48961047 48961047 single base substitution G T intron_variant MELA-AU 8 48961047 48961047 single base substitution G T upstream_gene_variant MELA-AU 8 48961049 48961049 single base substitution G T intron_variant MELA-AU 8 48961049 48961049 single base substitution G T upstream_gene_variant MELA-AU 8 48961259 48961259 single base substitution T C intron_variant MELA-AU 8 48961259 48961259 single base substitution T C upstream_gene_variant MELA-AU 8 48961790 48961790 single base substitution G A intron_variant MELA-AU 8 48961790 48961790 single base substitution G A upstream_gene_variant MELA-AU 8 48961846 48961847 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 8 48961846 48961847 multiple base substitution (>=2bp and <=200bp) TC AT upstream_gene_variant MELA-AU 8 48962088 48962088 single base substitution C T intron_variant MELA-AU 8 48962088 48962088 single base substitution C T upstream_gene_variant MELA-AU 8 48963298 48963298 single base substitution T G intron_variant MELA-AU 8 48963460 48963460 single base substitution C T intron_variant MELA-AU 8 48963494 48963494 single base substitution C T intron_variant MELA-AU 8 48963839 48963839 single base substitution C T intron_variant MELA-AU 8 48964155 48964155 single base substitution C T intron_variant MELA-AU 8 48964991 48964991 single base substitution C T intron_variant MELA-AU 8 48965151 48965151 single base substitution G T intron_variant MELA-AU 8 48965267 48965267 single base substitution C T intron_variant MELA-AU 8 48965291 48965291 single base substitution C T intron_variant MELA-AU 8 48965308 48965308 single base substitution C T intron_variant MELA-AU 8 48965377 48965377 single base substitution C T intron_variant MELA-AU 8 48966829 48966829 single base substitution G A intron_variant MELA-AU 8 48967451 48967451 single base substitution C T intron_variant MELA-AU 8 48967883 48967883 single base substitution C T intron_variant MELA-AU 8 48967986 48967986 single base substitution C T intron_variant MELA-AU 8 48968316 48968316 single base substitution C T intron_variant MELA-AU 8 48969004 48969004 single base substitution A T intron_variant MELA-AU 8 48969148 48969148 single base substitution C T intron_variant MELA-AU 8 48969321 48969321 single base substitution C T intron_variant MELA-AU 8 48970214 48970214 single base substitution G A intron_variant MELA-AU 8 48971830 48971849 deletion of <=200bp TAGATGACAGCTTATGGCCT - intron_variant MELA-AU 8 48972445 48972445 single base substitution C T intron_variant MELA-AU 8 48972483 48972483 single base substitution G T intron_variant MELA-AU 8 48973522 48973522 single base substitution G A 3_prime_UTR_variant MELA-AU 8 48973522 48973522 single base substitution G A downstream_gene_variant MELA-AU 8 48973522 48973522 single base substitution G A exon_variant MELA-AU 8 48974363 48974363 single base substitution A T 3_prime_UTR_variant MELA-AU 8 48974363 48974363 single base substitution A T downstream_gene_variant MELA-AU 8 48974535 48974535 single base substitution G A 3_prime_UTR_variant MELA-AU 8 48974535 48974535 single base substitution G A downstream_gene_variant MELA-AU 8 48974825 48974825 single base substitution C T 3_prime_UTR_variant MELA-AU 8 48974825 48974825 single base substitution C T downstream_gene_variant MELA-AU 8 48975185 48975185 single base substitution C T 3_prime_UTR_variant MELA-AU 8 48975185 48975185 single base substitution C T downstream_gene_variant MELA-AU 8 48975765 48975765 single base substitution C T 3_prime_UTR_variant MELA-AU 8 48975765 48975765 single base substitution C T downstream_gene_variant MELA-AU 8 48977361 48977361 single base substitution C T downstream_gene_variant MELA-AU 8 48977488 48977488 single base substitution C T downstream_gene_variant MELA-AU 8 48978213 48978213 single base substitution C T downstream_gene_variant MELA-AU 8 48978264 48978264 single base substitution G A downstream_gene_variant MELA-AU 8 48978329 48978329 single base substitution C T downstream_gene_variant MELA-AU 8 48978358 48978358 single base substitution C T downstream_gene_variant MELA-AU 8 48978757 48978757 single base substitution T C downstream_gene_variant MELA-AU 8 48978800 48978800 single base substitution T C downstream_gene_variant MELA-AU 8 48978940 48978940 single base substitution C T downstream_gene_variant MELA-AU 8 48979699 48979699 single base substitution A T downstream_gene_variant MELA-AU 8 48980565 48980565 single base substitution C T downstream_gene_variant MELA-AU 8 48981060 48981060 single base substitution T G downstream_gene_variant MELA-AU 8 48981122 48981122 single base substitution T C downstream_gene_variant MELA-AU 8 48981585 48981585 single base substitution G A downstream_gene_variant MELA-AU 8 48981693 48981693 single base substitution C T downstream_gene_variant MELA-AU 8 48981895 48981895 single base substitution A T downstream_gene_variant MELA-AU 8 48982098 48982098 single base substitution C T downstream_gene_variant ORCA-IN 8 48924347 48924347 single base substitution G A intron_variant ORCA-IN 8 48927204 48927204 single base substitution C T intron_variant ORCA-IN 8 48937996 48937996 insertion of <=200bp - T intron_variant ORCA-IN 8 48941205 48941205 single base substitution G A intron_variant ORCA-IN 8 48978138 48978138 single base substitution G C downstream_gene_variant OV-AU 8 48918708 48918708 single base substitution T C upstream_gene_variant OV-AU 8 48918958 48918958 single base substitution G A upstream_gene_variant OV-AU 8 48920959 48920959 single base substitution T C upstream_gene_variant OV-AU 8 48921195 48921195 single base substitution C G intron_variant OV-AU 8 48921225 48921225 single base substitution T A intron_variant OV-AU 8 48924295 48924295 single base substitution C G intron_variant OV-AU 8 48925265 48925265 single base substitution T C intron_variant OV-AU 8 48928726 48928726 single base substitution G C intron_variant OV-AU 8 48928923 48928923 single base substitution T A intron_variant OV-AU 8 48932267 48932267 single base substitution C T intron_variant OV-AU 8 48935962 48935962 single base substitution G C intron_variant OV-AU 8 48942425 48942425 single base substitution T A intron_variant OV-AU 8 48951176 48951176 single base substitution C G intron_variant OV-AU 8 48951176 48951176 single base substitution C G upstream_gene_variant OV-AU 8 48951550 48951550 single base substitution G A intron_variant OV-AU 8 48951550 48951550 single base substitution G A upstream_gene_variant OV-AU 8 48954578 48954578 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant OV-AU 8 48954578 48954578 single base substitution C G intron_variant OV-AU 8 48954578 48954578 single base substitution C G upstream_gene_variant OV-AU 8 48959771 48959771 single base substitution G T intron_variant OV-AU 8 48959771 48959771 single base substitution G T upstream_gene_variant OV-AU 8 48961529 48961529 single base substitution C G intron_variant OV-AU 8 48961529 48961529 single base substitution C G upstream_gene_variant OV-AU 8 48962384 48962384 single base substitution T C exon_variant OV-AU 8 48962384 48962384 single base substitution T C intron_variant OV-AU 8 48964320 48964320 single base substitution C A intron_variant OV-AU 8 48977926 48977926 single base substitution A G downstream_gene_variant PACA-AU 8 48916667 48916667 single base substitution A G upstream_gene_variant PACA-AU 8 48917080 48917080 single base substitution T G upstream_gene_variant PACA-AU 8 48919017 48919017 single base substitution C T upstream_gene_variant PACA-AU 8 48919729 48919729 single base substitution G A upstream_gene_variant PACA-AU 8 48919896 48919896 single base substitution G A upstream_gene_variant PACA-AU 8 48920050 48920050 single base substitution T G upstream_gene_variant PACA-AU 8 48924574 48924574 single base substitution A G intron_variant PACA-AU 8 48927478 48927478 single base substitution C T intron_variant PACA-AU 8 48928620 48928620 single base substitution G A intron_variant PACA-AU 8 48931756 48931756 single base substitution C T intron_variant PACA-AU 8 48934244 48934244 single base substitution G A intron_variant PACA-AU 8 48944405 48944405 single base substitution A G intron_variant PACA-AU 8 48956402 48956402 single base substitution C A intron_variant PACA-AU 8 48963173 48963173 single base substitution C T intron_variant PACA-AU 8 48968323 48968323 single base substitution T G intron_variant PACA-CA 8 48916908 48916908 single base substitution G A upstream_gene_variant PACA-CA 8 48917040 48917040 single base substitution G A upstream_gene_variant PACA-CA 8 48917085 48917085 single base substitution G T upstream_gene_variant PACA-CA 8 48921659 48921659 single base substitution T C intron_variant PACA-CA 8 48921986 48921986 single base substitution C T intron_variant PACA-CA 8 48929471 48929471 single base substitution G T intron_variant PACA-CA 8 48938718 48938718 single base substitution A T intron_variant PACA-CA 8 48940034 48940034 single base substitution C G intron_variant PACA-CA 8 48942444 48942444 single base substitution G T intron_variant PACA-CA 8 48943506 48943506 single base substitution T G intron_variant PACA-CA 8 48945298 48945298 single base substitution G T intron_variant PACA-CA 8 48948446 48948446 single base substitution G A intron_variant PACA-CA 8 48952246 48952246 single base substitution T A intron_variant PACA-CA 8 48952246 48952246 single base substitution T A upstream_gene_variant PACA-CA 8 48952436 48952436 single base substitution C T intron_variant PACA-CA 8 48952436 48952436 single base substitution C T upstream_gene_variant PACA-CA 8 48958179 48958179 single base substitution G T intron_variant PACA-CA 8 48958179 48958179 single base substitution G T upstream_gene_variant PACA-CA 8 48966141 48966141 single base substitution G A intron_variant PACA-CA 8 48974644 48974644 single base substitution G T 3_prime_UTR_variant PACA-CA 8 48974644 48974644 single base substitution G T downstream_gene_variant PACA-CA 8 48978982 48978982 single base substitution T A downstream_gene_variant PACA-CA 8 48981608 48981608 single base substitution C T downstream_gene_variant PAEN-AU 8 48950511 48950511 single base substitution G A intron_variant PAEN-AU 8 48950511 48950511 single base substitution G A upstream_gene_variant PAEN-IT 8 48942311 48942311 single base substitution T C intron_variant PAEN-IT 8 48967775 48967775 single base substitution T G intron_variant PAEN-IT 8 48970473 48970473 single base substitution C A intron_variant PBCA-DE 8 48916064 48916064 single base substitution C T upstream_gene_variant PBCA-DE 8 48922827 48922827 single base substitution C T intron_variant PBCA-DE 8 48925268 48925268 single base substitution G T intron_variant PBCA-DE 8 48944922 48944922 insertion of <=200bp - T intron_variant PBCA-DE 8 48948446 48948446 single base substitution G A intron_variant PBCA-DE 8 48953771 48953771 single base substitution G A intron_variant PBCA-DE 8 48953771 48953771 single base substitution G A upstream_gene_variant PBCA-DE 8 48959103 48959103 single base substitution C T intron_variant PBCA-DE 8 48959103 48959103 single base substitution C T upstream_gene_variant PBCA-DE 8 48963553 48963553 single base substitution C T intron_variant PBCA-DE 8 48968952 48968952 single base substitution C T intron_variant PRAD-CA 8 48922372 48922372 single base substitution C T intron_variant PRAD-CA 8 48934001 48934001 single base substitution G A intron_variant PRAD-CA 8 48963266 48963266 single base substitution G A intron_variant PRAD-CA 8 48973073 48973073 single base substitution T C intron_variant PRAD-CA 8 48981882 48981882 single base substitution G A downstream_gene_variant PRAD-UK 8 48917099 48917099 single base substitution T G upstream_gene_variant PRAD-UK 8 48922487 48922488 deletion of <=200bp TG - intron_variant PRAD-UK 8 48941875 48941875 single base substitution T G intron_variant PRAD-UK 8 48962626 48962626 single base substitution A G intron_variant PRAD-UK 8 48972770 48972785 deletion of <=200bp AAAAAAAAAAAAAAAA - intron_variant RECA-EU 8 48923886 48923886 single base substitution C G intron_variant RECA-EU 8 48947791 48947791 single base substitution T A intron_variant RECA-EU 8 48951201 48951201 single base substitution G A intron_variant RECA-EU 8 48951201 48951201 single base substitution G A upstream_gene_variant SKCA-BR 8 48916172 48916172 single base substitution C T upstream_gene_variant SKCA-BR 8 48917072 48917073 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 8 48922959 48922960 deletion of <=200bp GT - intron_variant SKCA-BR 8 48927204 48927204 insertion of <=200bp - CA intron_variant SKCA-BR 8 48927708 48927708 single base substitution T G intron_variant SKCA-BR 8 48927844 48927844 single base substitution A G intron_variant SKCA-BR 8 48933897 48933897 single base substitution C T intron_variant SKCA-BR 8 48939448 48939448 single base substitution A C intron_variant SKCA-BR 8 48939899 48939899 single base substitution T G intron_variant SKCA-BR 8 48940306 48940306 single base substitution T G intron_variant SKCA-BR 8 48943825 48943825 single base substitution C T intron_variant SKCA-BR 8 48943999 48943999 single base substitution C T intron_variant SKCA-BR 8 48944444 48944444 single base substitution G A intron_variant SKCA-BR 8 48948191 48948191 insertion of <=200bp - TTG intron_variant SKCA-BR 8 48948191 48948191 single base substitution T G intron_variant SKCA-BR 8 48948468 48948468 single base substitution T C intron_variant SKCA-BR 8 48950829 48950829 single base substitution C G intron_variant SKCA-BR 8 48950829 48950829 single base substitution C G upstream_gene_variant SKCA-BR 8 48951348 48951348 single base substitution G A intron_variant SKCA-BR 8 48951348 48951348 single base substitution G A upstream_gene_variant SKCA-BR 8 48954059 48954059 single base substitution C T intron_variant SKCA-BR 8 48954059 48954059 single base substitution C T upstream_gene_variant SKCA-BR 8 48954631 48954631 single base substitution G C 5_prime_UTR_variant SKCA-BR 8 48954631 48954631 single base substitution G C intron_variant SKCA-BR 8 48954631 48954631 single base substitution G C upstream_gene_variant SKCA-BR 8 48955192 48955192 single base substitution C T 5_prime_UTR_variant SKCA-BR 8 48955192 48955192 single base substitution C T intron_variant SKCA-BR 8 48955192 48955192 single base substitution C T upstream_gene_variant SKCA-BR 8 48956735 48956735 single base substitution T G intron_variant SKCA-BR 8 48958921 48958921 single base substitution A C intron_variant SKCA-BR 8 48958921 48958921 single base substitution A C upstream_gene_variant SKCA-BR 8 48961870 48961870 single base substitution C T intron_variant SKCA-BR 8 48961870 48961870 single base substitution C T upstream_gene_variant SKCA-BR 8 48968671 48968671 single base substitution C T intron_variant SKCA-BR 8 48968804 48968804 single base substitution C T intron_variant SKCA-BR 8 48971055 48971055 single base substitution C T intron_variant SKCA-BR 8 48971416 48971416 single base substitution T G intron_variant SKCA-BR 8 48973490 48973490 single base substitution C T 3_prime_UTR_variant SKCA-BR 8 48973490 48973490 single base substitution C T downstream_gene_variant SKCA-BR 8 48973490 48973490 single base substitution C T exon_variant SKCA-BR 8 48975692 48975692 single base substitution G A 3_prime_UTR_variant SKCA-BR 8 48975692 48975692 single base substitution G A downstream_gene_variant SKCA-BR 8 48981880 48981880 single base substitution A G downstream_gene_variant SKCM-US 8 48955640 48955640 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 8 48955640 48955640 single base substitution G T exon_variant SKCM-US 8 48955640 48955640 single base substitution G T intron_variant SKCM-US 8 48955640 48955640 single base substitution G T stop_gained G22* 64G>T SKCM-US 8 48962467 48962467 single base substitution C T 3_prime_UTR_variant SKCM-US 8 48962467 48962467 single base substitution C T exon_variant SKCM-US 8 48962467 48962467 single base substitution C T missense_variant P34S 100C>T SKCM-US 8 48962467 48962467 single base substitution C T missense_variant P37S 109C>T SKCM-US 8 48962467 48962467 single base substitution C T missense_variant P74S 220C>T STAD-US 8 48955657 48955657 single base substitution C T 5_prime_UTR_variant STAD-US 8 48955657 48955657 single base substitution C T exon_variant STAD-US 8 48955657 48955657 single base substitution C T intron_variant STAD-US 8 48955657 48955657 single base substitution C T synonymous_variant G27G 81C>T STAD-US 8 48962467 48962467 single base substitution C A 3_prime_UTR_variant STAD-US 8 48962467 48962467 single base substitution C A exon_variant STAD-US 8 48962467 48962467 single base substitution C A missense_variant P34T 100C>A STAD-US 8 48962467 48962467 single base substitution C A missense_variant P37T 109C>A STAD-US 8 48962467 48962467 single base substitution C A missense_variant P74T 220C>A UCEC-US 8 48955608 48955608 single base substitution G A 5_prime_UTR_variant UCEC-US 8 48955608 48955608 single base substitution G A exon_variant UCEC-US 8 48955608 48955608 single base substitution G A intron_variant UCEC-US 8 48955608 48955608 single base substitution G A missense_variant R11H 32G>A UCEC-US 8 48955700 48955700 single base substitution A G exon_variant UCEC-US 8 48955700 48955700 single base substitution A G intron_variant UCEC-US 8 48955700 48955700 single base substitution A G missense_variant T2A 4A>G UCEC-US 8 48955700 48955700 single base substitution A G missense_variant T42A 124A>G UCEC-US 8 48955714 48955714 single base substitution G A exon_variant UCEC-US 8 48955714 48955714 single base substitution G A intron_variant UCEC-US 8 48955714 48955714 single base substitution G A stop_gained W46* 138G>A UCEC-US 8 48955714 48955714 single base substitution G A stop_gained W6* 18G>A UCEC-US 8 48962499 48962499 single base substitution A G 3_prime_UTR_variant UCEC-US 8 48962499 48962499 single base substitution A G exon_variant UCEC-US 8 48962499 48962499 single base substitution A G synonymous_variant T44T 132A>G UCEC-US 8 48962499 48962499 single base substitution A G synonymous_variant T47T 141A>G UCEC-US 8 48962499 48962499 single base substitution A G synonymous_variant T84T 252A>G UCEC-US 8 48973338 48973338 single base substitution G T 3_prime_UTR_variant UCEC-US 8 48973338 48973338 single base substitution G T exon_variant UCEC-US 8 48973338 48973338 single base substitution G T stop_gained E130* 388G>T UCEC-US 8 48973338 48973338 single base substitution G T stop_gained E90* 268G>T UCEC-US 8 48973338 48973338 single base substitution G T stop_gained E93* 277G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-G2-A3VY-01 COSM3779262 c.400C>G p.L134V Substitution - Missense 8:48060790-48060790 + HCT-15 COSM1673893 c.230C>A p.P77H Substitution - Missense 8:48049917-48049917 + HCC152 COSM3663788 c.291+10T>C p.? Unknown 8:48049988-48049988 + CHC1148T COSM4954765 c.188A>G p.Y63C Substitution - Missense 8:48049875-48049875 + TCGA-A7-A5ZV-01 COSM3834796 c.15A>C p.T5T Substitution - coding silent 8:48008469-48008469 + CHC1148T COSM4954765 c.188A>G p.Y63C Substitution - Missense 8:48049875-48049875 + TCGA-AP-A0LM-01 COSM1100336 c.138G>A p.W46* Substitution - Nonsense 8:48043154-48043154 + I2L-P24Tb-Tumor-Biopsy COSM5358857 c.93T>C p.V31V Substitution - coding silent 8:48043109-48043109 + TCGA-B5-A11E-01 COSM1100335 c.124A>G p.T42A Substitution - Missense 8:48043140-48043140 + TCGA-CM-5348-01 COSM1457384 c.229C>T p.P77S Substitution - Missense 8:48049916-48049916 + S02384 COSM5698577 c.100G>T p.G34C Substitution - Missense 8:48043116-48043116 + TCGA-B5-A0JY-01 COSM1100338 c.388G>T p.E130* Substitution - Nonsense 8:48060778-48060778 + TCGA-21-5787-01 COSM751326 c.41G>T p.R14L Substitution - Missense 8:48043057-48043057 + HCC152T COSM3663788 c.291+10T>C p.? Unknown 8:48049988-48049988 + TCGA-AP-A059-01 COSM1100334 c.32G>A p.R11H Substitution - Missense 8:48043048-48043048 + TCGA-E2-A1IN-01 COSM1489327 c.281C>G p.S94C Substitution - Missense 8:48049968-48049968 + 1N31-VS-1T31 COSM4974447 c.335C>T p.S112L Substitution - Missense 8:48060725-48060725 + TCGA-HU-A4H4-01 COSM3900490 c.220C>A p.P74T Substitution - Missense 8:48049907-48049907 + HCC135T COSM5823006 c.173A>G p.Y58C Substitution - Missense 8:48049860-48049860 + 2497781 COSM5750915 c.330A>G p.Q110Q Substitution - coding silent 8:48060720-48060720 + TCGA-B5-A11E-01 COSM1100337 c.252A>G p.T84T Substitution - coding silent 8:48049939-48049939 + HX27T COSM3663787 c.11C>A p.S4Y Substitution - Missense 8:48008465-48008465 + 587376 COSM1231560 c.274A>C p.N92H Substitution - Missense 8:48049961-48049961 + TCGA-BR-6566-01 COSM190497 c.81C>T p.G27G Substitution - coding silent 8:48043097-48043097 + TCGA-EE-A2MJ-06 COSM3649495 c.64G>T p.G22* Substitution - Nonsense 8:48043080-48043080 + TCGA-D3-A2JF-06 COSM3649496 c.220C>T p.P74S Substitution - Missense 8:48049907-48049907 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.491695 8q11.21 603001 2426729|CGAP|BC007051|C/G|coding|Asp40His|143|Candidate; 2426729|CGAP|BC016332|C/G|coding|Asp40His|163|Candidate; 2426729|CGAP|BC016710|C/G|coding|Asp40His|147|Candidate; 2426729|CGAP|BC028673|C/G|coding|Asp40His|140|Candidate; 2426729|CGAP|BC062418|C/G|coding|Asp40His|137|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer CC AT Missense p.P74I c.220_221delinsAT 8 48962467 CM C G Missense p.S94C c.281C>G 8 48962528 BRCA C T Missense p.P74S c.220C>T 8 48962467 CM C T Missense p.S4F c.11C>T 8 48921025 LUAD G T Missense p.R14L c.41G>T 8 48955617 LUSC G T Nonsense p.G22* c.64G>T 8 48955640 CM