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 8 74858903 74858903 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 g.chr8:74858903G>C c.301C>G c.(301-303)Ctg>Gtg p.L101V BRCA 8 74859004 74859004 + Missense_Mutation SNP G G A TCGA-AR-A256-01A-11D-A167-09 TCGA-AR-A256-10A-01D-A167-09 g.chr8:74859004G>A c.200C>T c.(199-201)tCa>tTa p.S67L CESC 8 74868231 74868231 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr8:74868231C>T c.63G>A c.(61-63)ttG>ttA p.L21L COADREAD 8 74868290 74868290 + Splice_Site SNP C C G TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr8:74868290C>G c.e4-1 ESCA 8 74858940 74858940 + Silent SNP G G C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chr8:74858940G>C c.264C>G c.(262-264)acC>acG p.T88T GBMLGG 8 74858991 74858991 + Silent SNP C C T TCGA-HT-7601-01A-11D-2086-08 TCGA-HT-7601-10A-01D-2086-08 g.chr8:74858991C>T c.213G>A c.(211-213)tcG>tcA p.S71S HNSC 8 74858964 74858964 + Silent SNP C C T TCGA-CN-6988-01A-11D-1912-08 TCGA-CN-6988-10A-01D-1912-08 g.chr8:74858964C>T c.240G>A c.(238-240)aaG>aaA p.K80K HNSC 8 74859029 74859029 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr8:74859029C>T c.175G>A c.(175-177)Gag>Aag p.E59K HNSC 8 74868286 74868286 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:74868286C>T c.8G>A c.(7-9)gGa>gAa p.G3E KIPAN 8 74858967 74858968 + Missense_Mutation DNP GT GT TA TCGA-B8-5545-01A-01D-1669-08 TCGA-B8-5545-10A-01D-1669-08 g.chr8:74858967_74858968GT>TA c.236_237AC>TA c.(235-237)tAC>tTA p.Y79L KIPAN 8 74858968 74858968 + Missense_Mutation SNP T T C TCGA-5P-A9JV-01A-12D-A42J-10 TCGA-5P-A9JV-10A-01D-A42M-10 g.chr8:74858968T>C c.236A>G c.(235-237)tAc>tGc p.Y79C KIPAN 8 74858968 74858968 + Missense_Mutation SNP T T G TCGA-CJ-4889-01A-01D-1373-10 TCGA-CJ-4889-11A-01D-1373-10 g.chr8:74858968T>G c.236A>C c.(235-237)tAc>tCc p.Y79S KIPAN 8 74858969 74858969 + Missense_Mutation SNP A A T TCGA-CZ-4862-01A-01D-1373-10 TCGA-CZ-4862-11A-01D-1373-10 g.chr8:74858969A>T c.235T>A c.(235-237)Tac>Aac p.Y79N KIRC 8 74858967 74858968 + Missense_Mutation DNP GT GT TA TCGA-B8-5545-01A-01D-1669-08 TCGA-B8-5545-10A-01D-1669-08 g.chr8:74858967_74858968GT>TA c.236_237AC>TA c.(235-237)tAC>tTA p.Y79L KIRC 8 74858968 74858968 + Missense_Mutation SNP T T G TCGA-CJ-4889-01A-01D-1373-10 TCGA-CJ-4889-11A-01D-1373-10 g.chr8:74858968T>G c.236A>C c.(235-237)tAc>tCc p.Y79S KIRC 8 74858969 74858969 + Missense_Mutation SNP A A T TCGA-CZ-4862-01A-01D-1373-10 TCGA-CZ-4862-11A-01D-1373-10 g.chr8:74858969A>T c.235T>A c.(235-237)Tac>Aac p.Y79N KIRP 8 74858968 74858968 + Missense_Mutation SNP T T C TCGA-5P-A9JV-01A-12D-A42J-10 TCGA-5P-A9JV-10A-01D-A42M-10 g.chr8:74858968T>C c.236A>G c.(235-237)tAc>tGc p.Y79C LGG 8 74858991 74858991 + Silent SNP C C T TCGA-HT-7601-01A-11D-2086-08 TCGA-HT-7601-10A-01D-2086-08 g.chr8:74858991C>T c.213G>A c.(211-213)tcG>tcA p.S71S LUAD 8 74868148 74868148 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr8:74868148G>T c.146C>A c.(145-147)cCa>cAa p.P49Q LUAD 8 74868182 74868182 + Missense_Mutation SNP T T A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr8:74868182T>A c.112A>T c.(112-114)Aca>Tca p.T38S OV 8 74868223 74868223 + Missense_Mutation SNP G G C TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 g.chr8:74868223G>C c.71C>G c.(70-72)tCt>tGt p.S24C PAAD 8 74858992 74858992 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr8:74858992G>T c.212C>A c.(211-213)tCg>tAg p.S71* PAAD 8 74859046 74859046 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:74859046G>A c.158C>T c.(157-159)gCt>gTt p.A53V READ 8 74868290 74868290 + Splice_Site SNP C C G TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr8:74868290C>G c.e4-1 SKCM 8 74859020 74859020 + Missense_Mutation SNP A A T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr8:74859020A>T c.184T>A c.(184-186)Ttt>Att p.F62I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 8 74876421 74876421 single base substitution G A intron_variant BRCA-EU 8 74846448 74846448 single base substitution G A downstream_gene_variant BRCA-EU 8 74846970 74846970 single base substitution C A downstream_gene_variant BRCA-EU 8 74847709 74847709 single base substitution C T downstream_gene_variant BRCA-EU 8 74847726 74847726 single base substitution T G downstream_gene_variant BRCA-EU 8 74847956 74847956 single base substitution C T downstream_gene_variant BRCA-EU 8 74848458 74848458 single base substitution A G downstream_gene_variant BRCA-EU 8 74848502 74848502 single base substitution C G downstream_gene_variant BRCA-EU 8 74849395 74849395 single base substitution C A downstream_gene_variant BRCA-EU 8 74850501 74850501 single base substitution C G downstream_gene_variant BRCA-EU 8 74850906 74850906 single base substitution G T downstream_gene_variant BRCA-EU 8 74850951 74850951 single base substitution G T downstream_gene_variant BRCA-EU 8 74851570 74851570 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 74851965 74851965 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 74852799 74852799 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 74852799 74852799 single base substitution C T downstream_gene_variant BRCA-EU 8 74853584 74853584 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 74853584 74853584 single base substitution C G downstream_gene_variant BRCA-EU 8 74853984 74853984 single base substitution A C downstream_gene_variant BRCA-EU 8 74853984 74853984 single base substitution A C intron_variant BRCA-EU 8 74854737 74854737 single base substitution G A downstream_gene_variant BRCA-EU 8 74854737 74854737 single base substitution G A intron_variant BRCA-EU 8 74855385 74855385 single base substitution C G downstream_gene_variant BRCA-EU 8 74855385 74855385 single base substitution C G intron_variant BRCA-EU 8 74857462 74857462 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 74857462 74857462 single base substitution C G downstream_gene_variant BRCA-EU 8 74857462 74857462 single base substitution C G intron_variant BRCA-EU 8 74857608 74857608 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 74857608 74857608 single base substitution C T downstream_gene_variant BRCA-EU 8 74857608 74857608 single base substitution C T intron_variant BRCA-EU 8 74858093 74858095 deletion of <=200bp ACA - 3_prime_UTR_variant BRCA-EU 8 74858093 74858095 deletion of <=200bp ACA - downstream_gene_variant BRCA-EU 8 74858093 74858095 deletion of <=200bp ACA - intron_variant BRCA-EU 8 74858844 74858844 single base substitution G T 3_prime_UTR_variant BRCA-EU 8 74858844 74858844 single base substitution G T downstream_gene_variant BRCA-EU 8 74858844 74858844 single base substitution G T intron_variant BRCA-EU 8 74859814 74859814 single base substitution T C intron_variant BRCA-EU 8 74860694 74860694 single base substitution C T intron_variant BRCA-EU 8 74862037 74862037 single base substitution G A intron_variant BRCA-EU 8 74863210 74863210 single base substitution A C intron_variant BRCA-EU 8 74865799 74865799 single base substitution G A intron_variant BRCA-EU 8 74865828 74865828 single base substitution G A intron_variant BRCA-EU 8 74866988 74866988 single base substitution C T intron_variant BRCA-EU 8 74867385 74867385 deletion of <=200bp T - intron_variant BRCA-EU 8 74868836 74868836 single base substitution T C intron_variant BRCA-EU 8 74868878 74868878 single base substitution T C intron_variant BRCA-EU 8 74870861 74870861 single base substitution C G intron_variant BRCA-EU 8 74871108 74871108 single base substitution G A intron_variant BRCA-EU 8 74872085 74872085 single base substitution A T intron_variant BRCA-EU 8 74874541 74874541 single base substitution G A intron_variant BRCA-EU 8 74875205 74875205 single base substitution T C intron_variant BRCA-EU 8 74877427 74877427 single base substitution C T intron_variant BRCA-EU 8 74878045 74878045 single base substitution T C intron_variant BRCA-EU 8 74878121 74878121 single base substitution G C intron_variant BRCA-EU 8 74879236 74879236 single base substitution C A intron_variant BRCA-EU 8 74879769 74879769 single base substitution C A intron_variant BRCA-EU 8 74880159 74880159 single base substitution C G intron_variant BRCA-EU 8 74881163 74881163 single base substitution C T intron_variant BRCA-EU 8 74882929 74882929 single base substitution G A intron_variant BRCA-EU 8 74882929 74882929 single base substitution G A upstream_gene_variant BRCA-EU 8 74883566 74883566 single base substitution G A intron_variant BRCA-EU 8 74883566 74883566 single base substitution G A upstream_gene_variant BRCA-EU 8 74884049 74884049 single base substitution G C intron_variant BRCA-EU 8 74884049 74884049 single base substitution G C upstream_gene_variant BRCA-EU 8 74884740 74884740 single base substitution C G upstream_gene_variant BRCA-EU 8 74884802 74884802 single base substitution G C upstream_gene_variant BRCA-EU 8 74885432 74885432 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 74886030 74886030 single base substitution C T upstream_gene_variant BRCA-EU 8 74886199 74886199 single base substitution G A upstream_gene_variant BRCA-EU 8 74886679 74886679 single base substitution G A upstream_gene_variant BRCA-EU 8 74886796 74886796 single base substitution A G upstream_gene_variant BRCA-EU 8 74886960 74886960 single base substitution G A upstream_gene_variant BRCA-EU 8 74887198 74887198 single base substitution G A upstream_gene_variant BRCA-EU 8 74887393 74887393 single base substitution C G upstream_gene_variant BRCA-EU 8 74888117 74888117 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 74888159 74888159 single base substitution C T upstream_gene_variant BRCA-FR 8 74847709 74847709 single base substitution C T downstream_gene_variant BRCA-FR 8 74849860 74849860 single base substitution A T downstream_gene_variant BRCA-FR 8 74865828 74865828 single base substitution G A intron_variant BRCA-FR 8 74866055 74866055 single base substitution C T intron_variant BRCA-FR 8 74868136 74868136 single base substitution C G intron_variant BRCA-FR 8 74870861 74870861 single base substitution C G intron_variant BRCA-FR 8 74876521 74876521 single base substitution T C intron_variant BRCA-FR 8 74878045 74878045 single base substitution T C intron_variant BRCA-FR 8 74878121 74878121 single base substitution G C intron_variant BRCA-FR 8 74884802 74884802 single base substitution G C upstream_gene_variant BRCA-FR 8 74886199 74886199 single base substitution G A upstream_gene_variant BRCA-FR 8 74886679 74886679 single base substitution G A upstream_gene_variant BRCA-UK 8 74858093 74858095 deletion of <=200bp ACA - 3_prime_UTR_variant BRCA-UK 8 74858093 74858095 deletion of <=200bp ACA - downstream_gene_variant BRCA-UK 8 74858093 74858095 deletion of <=200bp ACA - intron_variant BRCA-US 8 74859004 74859004 single base substitution G A intron_variant BRCA-US 8 74859004 74859004 single base substitution G A missense_variant S51L 152C>T BRCA-US 8 74859004 74859004 single base substitution G A missense_variant S67L 200C>T CESC-US 8 74868231 74868231 single base substitution C T synonymous_variant L21L 63G>A CESC-US 8 74868231 74868231 single base substitution C T synonymous_variant L5L 15G>A CESC-US 8 74888116 74888116 insertion of <=200bp - A upstream_gene_variant CLLE-ES 8 74880518 74880518 insertion of <=200bp - T intron_variant COAD-US 8 74888616 74888616 single base substitution G C upstream_gene_variant COCA-CN 8 74852314 74852314 single base substitution G A 3_prime_UTR_variant COCA-CN 8 74867954 74867954 single base substitution C T intron_variant COCA-CN 8 74883114 74883114 single base substitution A C intron_variant COCA-CN 8 74883114 74883114 single base substitution A C upstream_gene_variant COCA-CN 8 74884255 74884255 single base substitution C T intron_variant COCA-CN 8 74884255 74884255 single base substitution C T upstream_gene_variant EOPC-DE 8 74857488 74857488 single base substitution G A 3_prime_UTR_variant EOPC-DE 8 74857488 74857488 single base substitution G A downstream_gene_variant EOPC-DE 8 74857488 74857488 single base substitution G A intron_variant ESAD-UK 8 74850406 74850406 single base substitution C T downstream_gene_variant ESAD-UK 8 74851567 74851567 insertion of <=200bp - C 3_prime_UTR_variant ESAD-UK 8 74854473 74854473 single base substitution C T downstream_gene_variant ESAD-UK 8 74854473 74854473 single base substitution C T intron_variant ESAD-UK 8 74856160 74856160 single base substitution G T downstream_gene_variant ESAD-UK 8 74856160 74856160 single base substitution G T intron_variant ESAD-UK 8 74856461 74856461 single base substitution A T downstream_gene_variant ESAD-UK 8 74856461 74856461 single base substitution A T intron_variant ESAD-UK 8 74858830 74858830 single base substitution G A 3_prime_UTR_variant ESAD-UK 8 74858830 74858830 single base substitution G A downstream_gene_variant ESAD-UK 8 74858830 74858830 single base substitution G A intron_variant ESAD-UK 8 74859137 74859137 single base substitution C T intron_variant ESAD-UK 8 74860354 74860354 single base substitution G C intron_variant ESAD-UK 8 74861175 74861175 single base substitution T C intron_variant ESAD-UK 8 74863210 74863210 single base substitution A C intron_variant ESAD-UK 8 74864015 74864015 single base substitution T C intron_variant ESAD-UK 8 74866643 74866643 single base substitution C T intron_variant ESAD-UK 8 74868620 74868620 deletion of <=200bp A - intron_variant ESAD-UK 8 74869444 74869444 single base substitution G A intron_variant ESAD-UK 8 74872376 74872376 single base substitution C T intron_variant ESAD-UK 8 74875003 74875003 insertion of <=200bp - A intron_variant ESAD-UK 8 74879060 74879060 single base substitution A T intron_variant ESAD-UK 8 74879327 74879327 single base substitution C T intron_variant ESAD-UK 8 74881022 74881022 single base substitution G A intron_variant ESAD-UK 8 74881062 74881062 single base substitution C G intron_variant ESAD-UK 8 74882699 74882699 single base substitution G A intron_variant ESAD-UK 8 74883961 74883961 single base substitution A G intron_variant ESAD-UK 8 74883961 74883961 single base substitution A G upstream_gene_variant ESAD-UK 8 74884499 74884499 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 8 74884499 74884499 single base substitution G A upstream_gene_variant ESAD-UK 8 74884588 74884588 single base substitution A C upstream_gene_variant ESAD-UK 8 74885210 74885210 insertion of <=200bp - C upstream_gene_variant GBM-US 8 74888704 74888704 deletion of <=200bp T - upstream_gene_variant LGG-US 8 74858991 74858991 single base substitution C T intron_variant LGG-US 8 74858991 74858991 single base substitution C T synonymous_variant S55S 165G>A LGG-US 8 74858991 74858991 single base substitution C T synonymous_variant S71S 213G>A LICA-FR 8 74850855 74850855 single base substitution T C downstream_gene_variant LICA-FR 8 74879584 74879584 single base substitution A C intron_variant LINC-JP 8 74847956 74847956 single base substitution C A downstream_gene_variant LINC-JP 8 74872422 74872422 single base substitution T A intron_variant LINC-JP 8 74888335 74888335 single base substitution A C upstream_gene_variant LINC-JP 8 74889235 74889235 single base substitution G A upstream_gene_variant LIRI-JP 8 74847679 74847679 single base substitution G T downstream_gene_variant LIRI-JP 8 74848232 74848232 single base substitution A G downstream_gene_variant LIRI-JP 8 74848803 74848803 single base substitution C T downstream_gene_variant LIRI-JP 8 74854121 74854121 single base substitution T A downstream_gene_variant LIRI-JP 8 74854121 74854121 single base substitution T A intron_variant LIRI-JP 8 74854217 74854217 single base substitution A C downstream_gene_variant LIRI-JP 8 74854217 74854217 single base substitution A C intron_variant LIRI-JP 8 74855071 74855071 single base substitution A T downstream_gene_variant LIRI-JP 8 74855071 74855071 single base substitution A T intron_variant LIRI-JP 8 74855488 74855488 single base substitution T C downstream_gene_variant LIRI-JP 8 74855488 74855488 single base substitution T C intron_variant LIRI-JP 8 74855898 74855898 single base substitution A C downstream_gene_variant LIRI-JP 8 74855898 74855898 single base substitution A C intron_variant LIRI-JP 8 74856334 74856334 single base substitution T C downstream_gene_variant LIRI-JP 8 74856334 74856334 single base substitution T C intron_variant LIRI-JP 8 74857621 74857621 single base substitution T A 3_prime_UTR_variant LIRI-JP 8 74857621 74857621 single base substitution T A downstream_gene_variant LIRI-JP 8 74857621 74857621 single base substitution T A intron_variant LIRI-JP 8 74859163 74859163 single base substitution A C intron_variant LIRI-JP 8 74863393 74863393 single base substitution G A intron_variant LIRI-JP 8 74863829 74863829 single base substitution C T intron_variant LIRI-JP 8 74865265 74865265 single base substitution T G intron_variant LIRI-JP 8 74867593 74867593 single base substitution C T intron_variant LIRI-JP 8 74869342 74869342 single base substitution A C intron_variant LIRI-JP 8 74873793 74873793 single base substitution G A intron_variant LIRI-JP 8 74875057 74875057 single base substitution C T intron_variant LIRI-JP 8 74875503 74875503 single base substitution T G intron_variant LIRI-JP 8 74876821 74876821 single base substitution G A 5_prime_UTR_variant LIRI-JP 8 74876821 74876821 single base substitution G A intron_variant LIRI-JP 8 74880447 74880447 single base substitution C T intron_variant LIRI-JP 8 74881993 74881993 single base substitution T C intron_variant LIRI-JP 8 74883690 74883690 deletion of <=200bp G - intron_variant LIRI-JP 8 74883690 74883690 deletion of <=200bp G - upstream_gene_variant LIRI-JP 8 74885831 74885831 single base substitution T C upstream_gene_variant LIRI-JP 8 74886881 74886881 single base substitution G T upstream_gene_variant LIRI-JP 8 74887101 74887101 single base substitution C G upstream_gene_variant LUSC-KR 8 74849685 74849685 single base substitution G A downstream_gene_variant LUSC-KR 8 74852297 74852297 single base substitution C A 3_prime_UTR_variant LUSC-KR 8 74852997 74852997 single base substitution T A 3_prime_UTR_variant LUSC-KR 8 74852997 74852997 single base substitution T A downstream_gene_variant LUSC-KR 8 74859141 74859141 single base substitution G C intron_variant LUSC-KR 8 74862139 74862139 single base substitution G C intron_variant LUSC-KR 8 74868399 74868399 single base substitution G A intron_variant LUSC-KR 8 74872850 74872850 single base substitution C G intron_variant LUSC-KR 8 74873277 74873277 single base substitution T C intron_variant LUSC-KR 8 74880637 74880637 single base substitution G C intron_variant MALY-DE 8 74874755 74874757 deletion of <=200bp ATT - intron_variant MALY-DE 8 74875104 74875104 single base substitution T C intron_variant MALY-DE 8 74877267 74877267 single base substitution A T intron_variant MALY-DE 8 74877368 74877368 single base substitution A C intron_variant MALY-DE 8 74878396 74878396 single base substitution G A intron_variant MELA-AU 8 74846503 74846503 single base substitution C T downstream_gene_variant MELA-AU 8 74846572 74846572 single base substitution G A downstream_gene_variant MELA-AU 8 74846760 74846760 single base substitution G A downstream_gene_variant MELA-AU 8 74847230 74847230 single base substitution G A downstream_gene_variant MELA-AU 8 74847874 74847874 single base substitution C T downstream_gene_variant MELA-AU 8 74847907 74847907 single base substitution C T downstream_gene_variant MELA-AU 8 74847934 74847934 single base substitution C T downstream_gene_variant MELA-AU 8 74847958 74847958 single base substitution G A downstream_gene_variant MELA-AU 8 74847988 74847988 single base substitution G A downstream_gene_variant MELA-AU 8 74848037 74848037 single base substitution A G downstream_gene_variant MELA-AU 8 74848055 74848055 single base substitution G A downstream_gene_variant MELA-AU 8 74849088 74849088 single base substitution C T downstream_gene_variant MELA-AU 8 74849174 74849174 single base substitution G A downstream_gene_variant MELA-AU 8 74849816 74849816 single base substitution G T downstream_gene_variant MELA-AU 8 74849998 74849998 single base substitution C T downstream_gene_variant MELA-AU 8 74850193 74850193 single base substitution G A downstream_gene_variant MELA-AU 8 74850473 74850473 single base substitution G A downstream_gene_variant MELA-AU 8 74851089 74851089 single base substitution G A downstream_gene_variant MELA-AU 8 74851259 74851259 single base substitution C T downstream_gene_variant MELA-AU 8 74851279 74851279 single base substitution T C downstream_gene_variant MELA-AU 8 74851318 74851318 single base substitution G A downstream_gene_variant MELA-AU 8 74851319 74851319 single base substitution G A downstream_gene_variant MELA-AU 8 74851480 74851480 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74851576 74851576 single base substitution C T 3_prime_UTR_variant MELA-AU 8 74851653 74851653 single base substitution A T 3_prime_UTR_variant MELA-AU 8 74851725 74851726 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 8 74851819 74851819 single base substitution C T 3_prime_UTR_variant MELA-AU 8 74851933 74851933 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74851943 74851943 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74852047 74852047 single base substitution C T 3_prime_UTR_variant MELA-AU 8 74852695 74852695 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74852695 74852695 single base substitution G A downstream_gene_variant MELA-AU 8 74853321 74853321 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74853321 74853321 single base substitution G A downstream_gene_variant MELA-AU 8 74853480 74853480 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74853480 74853480 single base substitution G A downstream_gene_variant MELA-AU 8 74853539 74853539 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74853539 74853539 single base substitution G A downstream_gene_variant MELA-AU 8 74853540 74853540 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74853540 74853540 single base substitution G A downstream_gene_variant MELA-AU 8 74853866 74853866 single base substitution T C downstream_gene_variant MELA-AU 8 74853866 74853866 single base substitution T C intron_variant MELA-AU 8 74853920 74853920 single base substitution G A downstream_gene_variant MELA-AU 8 74853920 74853920 single base substitution G A intron_variant MELA-AU 8 74855584 74855584 single base substitution G A downstream_gene_variant MELA-AU 8 74855584 74855584 single base substitution G A intron_variant MELA-AU 8 74856910 74856910 single base substitution G A downstream_gene_variant MELA-AU 8 74856910 74856910 single base substitution G A intron_variant MELA-AU 8 74857629 74857629 single base substitution C A 3_prime_UTR_variant MELA-AU 8 74857629 74857629 single base substitution C A downstream_gene_variant MELA-AU 8 74857629 74857629 single base substitution C A intron_variant MELA-AU 8 74857779 74857779 single base substitution G A 3_prime_UTR_variant MELA-AU 8 74857779 74857779 single base substitution G A downstream_gene_variant MELA-AU 8 74857779 74857779 single base substitution G A intron_variant MELA-AU 8 74857809 74857809 single base substitution T A 3_prime_UTR_variant MELA-AU 8 74857809 74857809 single base substitution T A downstream_gene_variant MELA-AU 8 74857809 74857809 single base substitution T A intron_variant MELA-AU 8 74859217 74859217 single base substitution T C intron_variant MELA-AU 8 74860000 74860001 multiple base substitution (>=2bp and <=200bp) GA TT intron_variant MELA-AU 8 74861333 74861333 single base substitution T A intron_variant MELA-AU 8 74861461 74861461 single base substitution T C intron_variant MELA-AU 8 74861537 74861537 single base substitution T C intron_variant MELA-AU 8 74862131 74862131 single base substitution G A intron_variant MELA-AU 8 74862328 74862328 single base substitution G A intron_variant MELA-AU 8 74862545 74862545 single base substitution G A intron_variant MELA-AU 8 74862719 74862719 single base substitution A G intron_variant MELA-AU 8 74862746 74862746 single base substitution T C intron_variant MELA-AU 8 74863960 74863960 single base substitution G A intron_variant MELA-AU 8 74864664 74864664 single base substitution A T intron_variant MELA-AU 8 74865900 74865900 single base substitution A T intron_variant MELA-AU 8 74867767 74867767 single base substitution G A intron_variant MELA-AU 8 74867867 74867867 single base substitution G A intron_variant MELA-AU 8 74868957 74868957 single base substitution A G intron_variant MELA-AU 8 74870148 74870148 single base substitution G A intron_variant MELA-AU 8 74870327 74870327 single base substitution G A intron_variant MELA-AU 8 74870495 74870495 single base substitution G A intron_variant MELA-AU 8 74871057 74871057 single base substitution G A intron_variant MELA-AU 8 74871387 74871387 single base substitution G T intron_variant MELA-AU 8 74871617 74871617 single base substitution C T intron_variant MELA-AU 8 74871701 74871701 single base substitution G A intron_variant MELA-AU 8 74871906 74871906 single base substitution G T intron_variant MELA-AU 8 74872732 74872732 single base substitution A G intron_variant MELA-AU 8 74874281 74874281 single base substitution G A intron_variant MELA-AU 8 74875907 74875907 single base substitution G A intron_variant MELA-AU 8 74876418 74876418 single base substitution G A intron_variant MELA-AU 8 74877374 74877374 single base substitution G A intron_variant MELA-AU 8 74877386 74877386 single base substitution G A intron_variant MELA-AU 8 74877664 74877664 single base substitution C T intron_variant MELA-AU 8 74877693 74877693 single base substitution G A intron_variant MELA-AU 8 74878212 74878212 single base substitution G C intron_variant MELA-AU 8 74879280 74879280 single base substitution T A intron_variant MELA-AU 8 74880049 74880049 single base substitution C T intron_variant MELA-AU 8 74880209 74880209 single base substitution C A intron_variant MELA-AU 8 74880351 74880351 single base substitution G A intron_variant MELA-AU 8 74881507 74881507 single base substitution G A intron_variant MELA-AU 8 74881666 74881666 single base substitution C T intron_variant MELA-AU 8 74882089 74882089 single base substitution C T intron_variant MELA-AU 8 74882094 74882094 single base substitution G C intron_variant MELA-AU 8 74882726 74882726 single base substitution A G intron_variant MELA-AU 8 74882906 74882906 single base substitution G A intron_variant MELA-AU 8 74882906 74882906 single base substitution G A upstream_gene_variant MELA-AU 8 74882951 74882951 single base substitution C T intron_variant MELA-AU 8 74882951 74882951 single base substitution C T upstream_gene_variant MELA-AU 8 74884054 74884054 single base substitution G A intron_variant MELA-AU 8 74884054 74884054 single base substitution G A upstream_gene_variant MELA-AU 8 74884404 74884404 single base substitution G A 5_prime_UTR_variant MELA-AU 8 74884404 74884404 single base substitution G A intron_variant MELA-AU 8 74884404 74884404 single base substitution G A upstream_gene_variant MELA-AU 8 74884612 74884612 single base substitution C T upstream_gene_variant MELA-AU 8 74884696 74884696 single base substitution G A upstream_gene_variant MELA-AU 8 74884721 74884721 single base substitution T C upstream_gene_variant MELA-AU 8 74884732 74884732 single base substitution G A upstream_gene_variant MELA-AU 8 74885506 74885506 single base substitution G A upstream_gene_variant MELA-AU 8 74886637 74886637 single base substitution G A upstream_gene_variant MELA-AU 8 74886706 74886706 single base substitution G A upstream_gene_variant MELA-AU 8 74886848 74886849 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 74886952 74886952 single base substitution C T upstream_gene_variant MELA-AU 8 74888126 74888126 single base substitution T C upstream_gene_variant ORCA-IN 8 74865745 74865745 single base substitution C G intron_variant ORCA-IN 8 74865895 74865895 single base substitution C G intron_variant OV-AU 8 74852072 74852072 single base substitution G T 3_prime_UTR_variant OV-AU 8 74852453 74852453 single base substitution C G 3_prime_UTR_variant OV-AU 8 74852453 74852453 single base substitution C G downstream_gene_variant OV-AU 8 74858789 74858789 single base substitution A C 3_prime_UTR_variant OV-AU 8 74858789 74858789 single base substitution A C downstream_gene_variant OV-AU 8 74858789 74858789 single base substitution A C intron_variant OV-AU 8 74863999 74863999 single base substitution C T intron_variant OV-AU 8 74868001 74868001 single base substitution C G intron_variant OV-AU 8 74868024 74868024 single base substitution A C intron_variant OV-AU 8 74874571 74874571 single base substitution T C intron_variant OV-AU 8 74877348 74877348 single base substitution A G intron_variant OV-AU 8 74889351 74889351 single base substitution C G upstream_gene_variant PACA-AU 8 74847736 74847736 single base substitution G A downstream_gene_variant PACA-AU 8 74849299 74849299 single base substitution G A downstream_gene_variant PACA-AU 8 74849731 74849731 single base substitution T A downstream_gene_variant PACA-AU 8 74857497 74857497 single base substitution C T 3_prime_UTR_variant PACA-AU 8 74857497 74857497 single base substitution C T downstream_gene_variant PACA-AU 8 74857497 74857497 single base substitution C T intron_variant PACA-AU 8 74859450 74859450 single base substitution C T intron_variant PACA-AU 8 74860043 74860043 single base substitution C G intron_variant PACA-AU 8 74862827 74862827 single base substitution C T intron_variant PACA-AU 8 74863477 74863477 single base substitution A G intron_variant PACA-AU 8 74867951 74867951 single base substitution G A intron_variant PACA-AU 8 74873212 74873212 single base substitution G T intron_variant PACA-AU 8 74875524 74875524 single base substitution T G intron_variant PACA-AU 8 74877919 74877927 deletion of <=200bp TATGTAGGT - intron_variant PACA-AU 8 74878158 74878158 single base substitution T C intron_variant PACA-AU 8 74879671 74879671 deletion of <=200bp A - intron_variant PACA-AU 8 74885853 74885853 single base substitution C T upstream_gene_variant PACA-AU 8 74887282 74887282 single base substitution T C upstream_gene_variant PACA-CA 8 74848048 74848048 single base substitution G A downstream_gene_variant PACA-CA 8 74848370 74848370 single base substitution G A downstream_gene_variant PACA-CA 8 74848651 74848651 single base substitution T C downstream_gene_variant PACA-CA 8 74849410 74849410 single base substitution A C downstream_gene_variant PACA-CA 8 74855322 74855322 single base substitution C G downstream_gene_variant PACA-CA 8 74855322 74855322 single base substitution C G intron_variant PACA-CA 8 74863159 74863159 single base substitution C G intron_variant PACA-CA 8 74865618 74865618 deletion of <=200bp A - intron_variant PACA-CA 8 74873431 74873431 single base substitution C G intron_variant PACA-CA 8 74880983 74880983 single base substitution T C intron_variant PACA-CA 8 74881961 74881961 single base substitution A G intron_variant PACA-CA 8 74883067 74883067 single base substitution T C intron_variant PACA-CA 8 74883067 74883067 single base substitution T C upstream_gene_variant PACA-CA 8 74886211 74886211 single base substitution T G upstream_gene_variant PACA-CA 8 74887418 74887418 single base substitution G T upstream_gene_variant PACA-CA 8 74889379 74889379 single base substitution C T upstream_gene_variant PAEN-AU 8 74866862 74866862 single base substitution G T intron_variant PAEN-AU 8 74869234 74869234 single base substitution G A intron_variant PBCA-DE 8 74856472 74856472 insertion of <=200bp - A downstream_gene_variant PBCA-DE 8 74856472 74856472 insertion of <=200bp - A intron_variant PBCA-DE 8 74868119 74868119 single base substitution T C intron_variant PBCA-DE 8 74870972 74870972 single base substitution T C intron_variant PRAD-CA 8 74846494 74846494 single base substitution G A downstream_gene_variant PRAD-CA 8 74848370 74848370 single base substitution G A downstream_gene_variant PRAD-CA 8 74865320 74865320 single base substitution A G intron_variant PRAD-CA 8 74883103 74883103 single base substitution A C intron_variant PRAD-CA 8 74883103 74883103 single base substitution A C upstream_gene_variant PRAD-UK 8 74846586 74846586 single base substitution A T downstream_gene_variant PRAD-UK 8 74862661 74862661 insertion of <=200bp - A intron_variant PRAD-UK 8 74862668 74862668 insertion of <=200bp - A intron_variant PRAD-UK 8 74864425 74864425 single base substitution G T intron_variant PRAD-UK 8 74868145 74868145 single base substitution C T splice_donor_variant PRAD-UK 8 74873129 74873129 single base substitution C G intron_variant READ-US 8 74868290 74868290 single base substitution C G splice_acceptor_variant RECA-EU 8 74858968 74858968 single base substitution T C intron_variant RECA-EU 8 74858968 74858968 single base substitution T C missense_variant Y63C 188A>G RECA-EU 8 74858968 74858968 single base substitution T C missense_variant Y79C 236A>G RECA-EU 8 74861951 74861951 single base substitution G C intron_variant RECA-EU 8 74866006 74866006 single base substitution G T intron_variant RECA-EU 8 74866007 74866007 single base substitution A G intron_variant RECA-EU 8 74877727 74877727 single base substitution A T intron_variant RECA-EU 8 74878037 74878037 single base substitution G T intron_variant RECA-EU 8 74881131 74881131 single base substitution C T intron_variant SKCA-BR 8 74846600 74846600 single base substitution G A downstream_gene_variant SKCA-BR 8 74846635 74846637 deletion of <=200bp CTT - downstream_gene_variant SKCA-BR 8 74850197 74850197 single base substitution C T downstream_gene_variant SKCA-BR 8 74850709 74850709 single base substitution G A downstream_gene_variant SKCA-BR 8 74852312 74852314 deletion of <=200bp AAG - 3_prime_UTR_variant SKCA-BR 8 74852312 74852323 deletion of <=200bp AAGAAAGAAAAG - 3_prime_UTR_variant SKCA-BR 8 74858516 74858516 single base substitution T A 3_prime_UTR_variant SKCA-BR 8 74858516 74858516 single base substitution T A downstream_gene_variant SKCA-BR 8 74858516 74858516 single base substitution T A intron_variant SKCA-BR 8 74861070 74861078 deletion of <=200bp ACAAGCAAG - intron_variant SKCA-BR 8 74865007 74865007 insertion of <=200bp - GAAA intron_variant SKCA-BR 8 74865690 74865690 single base substitution T G intron_variant SKCA-BR 8 74865774 74865774 single base substitution G A intron_variant SKCA-BR 8 74872507 74872507 single base substitution A C intron_variant SKCA-BR 8 74873182 74873186 deletion of <=200bp AAAAT - intron_variant SKCA-BR 8 74875455 74875455 single base substitution A G intron_variant SKCA-BR 8 74876377 74876377 single base substitution C A intron_variant SKCA-BR 8 74877580 74877580 single base substitution G A intron_variant SKCA-BR 8 74877581 74877581 single base substitution G A intron_variant SKCA-BR 8 74883103 74883103 single base substitution A C intron_variant SKCA-BR 8 74883103 74883103 single base substitution A C upstream_gene_variant SKCA-BR 8 74883103 74883104 deletion of <=200bp AC - intron_variant SKCA-BR 8 74883103 74883104 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 8 74883104 74883104 single base substitution C A intron_variant SKCA-BR 8 74883104 74883104 single base substitution C A upstream_gene_variant SKCA-BR 8 74884530 74884530 single base substitution G A upstream_gene_variant SKCA-BR 8 74884669 74884669 single base substitution C T upstream_gene_variant SKCM-US 8 74859020 74859020 single base substitution A T intron_variant SKCM-US 8 74859020 74859020 single base substitution A T missense_variant F46I 136T>A SKCM-US 8 74859020 74859020 single base substitution A T missense_variant F62I 184T>A SKCM-US 8 74888620 74888620 single base substitution C T upstream_gene_variant STAD-US 8 74859040 74859040 single base substitution T C intron_variant STAD-US 8 74859040 74859040 single base substitution T C missense_variant N39S 116A>G STAD-US 8 74859040 74859040 single base substitution T C missense_variant N55S 164A>G STAD-US 8 74888567 74888567 single base substitution C T upstream_gene_variant UCEC-US 8 74858948 74858948 single base substitution T C intron_variant UCEC-US 8 74858948 74858948 single base substitution T C missense_variant S70G 208A>G UCEC-US 8 74858948 74858948 single base substitution T C missense_variant S86G 256A>G UCEC-US 8 74858960 74858960 single base substitution G A intron_variant UCEC-US 8 74858960 74858960 single base substitution G A missense_variant R66C 196C>T UCEC-US 8 74858960 74858960 single base substitution G A missense_variant R82C 244C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B8-5545-01 COSM1137903 c.236_237AC>TA p.Y79L Substitution - Missense 8:73946732-73946733 - PR-00-1165 COSM247756 c.122C>T p.T41M Substitution - Missense 8:73955937-73955937 - ccRCC-54 COSM1664498 c.236A>G p.Y79C Substitution - Missense 8:73946733-73946733 - C0008T COSM1664498 c.236A>G p.Y79C Substitution - Missense 8:73946733-73946733 - ccRCC-27 COSM1664497 c.298G>C p.A100P Substitution - Missense 8:73946671-73946671 - TCGA-CJ-4889-01 COSM3367448 c.236A>C p.Y79S Substitution - Missense 8:73946733-73946733 - TCGA-A5-A0GQ-01 COSM1101572 c.249C>A p.Y83* Substitution - Nonsense 8:73946720-73946720 - 41P3 COSM3734085 c.257G>A p.S86N Substitution - Missense 8:73946712-73946712 - TCGA-CZ-4862-01 COSM3367449 c.235T>A p.Y79N Substitution - Missense 8:73946734-73946734 - ccRCC-48 COSM1664498 c.236A>G p.Y79C Substitution - Missense 8:73946733-73946733 - TCGA-B8-5545-01 COSM486656 c.236A>T p.Y79F Substitution - Missense 8:73946733-73946733 - ccRCC-42 COSM1664498 c.236A>G p.Y79C Substitution - Missense 8:73946733-73946733 - TCGA-CI-6624-01 COSM1569556 c.5-1G>C p.? Unknown 8:73956055-73956055 - 25 COSM5014800 c.286G>T p.A96S Substitution - Missense 8:73946683-73946683 - ATL032 COSM5711015 c.287C>T p.A96V Substitution - Missense 8:73946682-73946682 - TCGA-D1-A17Q-01 COSM1101573 c.244C>T p.R82C Substitution - Missense 8:73946725-73946725 - TCGA-AR-A256-01 COSM1489425 c.200C>T p.S67L Substitution - Missense 8:73946769-73946769 - S02279 COSM5683900 c.34G>A p.E12K Substitution - Missense 8:73956025-73956025 - MedB-1 COSM5621977 c.167A>G p.E56G Substitution - Missense 8:73946802-73946802 - TCGA-EE-A181-06 COSM3650840 c.184T>A p.F62I Substitution - Missense 8:73946785-73946785 - 41T COSM3734085 c.257G>A p.S86N Substitution - Missense 8:73946712-73946712 - TCGA-AP-A05N-01 COSM1101571 c.256A>G p.S86G Substitution - Missense 8:73946713-73946713 - ccRCC-35 COSM1664498 c.236A>G p.Y79C Substitution - Missense 8:73946733-73946733 - TCGA-HT-7601-01 COSM3929634 c.213G>A p.S71S Substitution - coding silent 8:73946756-73946756 - TCGA-CG-5728-01 COSM3901509 c.164A>G p.N55S Substitution - Missense 8:73946805-73946805 - TCGA-29-1761-01 COSM1330910 c.71C>G p.S24C Substitution - Missense 8:73955988-73955988 - 0060_CRUK_PC_0060_T1_DNA COSM5420762 c.148+1G>A p.? Unknown 8:73955910-73955910 - TCGA-B8-5545-01 COSM486654 c.237C>A p.Y79* Substitution - Nonsense 8:73946732-73946732 - TCGA-EK-A3GK-01 COSM4854571 c.63G>A p.L21L Substitution - coding silent 8:73955996-73955996 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.533437 8q21.11 600788 2435986|CGAP|BC013809|C/G|coding|Glu98Gln|376|Candidate; 2435986|CGAP|BC093065|C/G|coding|Glu98Gln|383|Candidate; 2435986|CGAP|BC100028|C/G|coding|Glu98Gln|401|Candidate; 2435986|CGAP|BC100283|C/G|coding|Glu98Gln|512|Candidate Hs.554594 8q21.11 600788 2435986|CGAP|BC013809|C/G|coding|Glu98Gln|376|Candidate; 2435986|CGAP|BC093065|C/G|coding|Glu98Gln|383|Candidate; 2435986|CGAP|BC100028|C/G|coding|Glu98Gln|401|Candidate; 2435986|CGAP|BC100283|C/G|coding|Glu98Gln|512|Candidate Hs.731925;Hs.731926;Hs.731927;Hs.731928 8q21.11 600788 2435986|CGAP|BC013809|C/G|coding|Glu98Gln|376|Candidate; 2435986|CGAP|BC093065|C/G|coding|Glu98Gln|383|Candidate; 2435986|CGAP|BC100028|C/G|coding|Glu98Gln|401|Candidate; 2435986|CGAP|BC100283|C/G|coding|Glu98Gln|512|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.F62I c.184T>A 8 74859020 CM A T Missense p.Y79N c.235T>A 8 74858969 RCCC - ATT IntronicInsertion . c.1-8515_1-8514insATA 8 74880518 CLL C A Missense p.A36S c.106G>T 8 74868188 STAD C T Missense p.E59K c.175G>A 8 74859029 HNSC C T Synonymous p.K80K c.240G>A 8 74858964 HNSC C T Synonymous p.S71S c.213G>A 8 74858991 LGG G A Missense p.S67L c.200C>T 8 74859004 BRCA G C Synonymous p.T88T c.264C>G 8 74858940 CM G T Missense p.P49Q c.146C>A 8 74868148 LUAD G T Nonsense p.Y79* c.237C>A 8 74858967 RCCC T A 3-UTRSNV . c.336+1247A>T 8 74857621 HC T A Missense p.Y79F c.236A>T 8 74858968 RCCC T C Missense p.N55S c.164A>G 8 74859040 STAD T C Missense p.S86G c.256A>G 8 74858948 UCEC T G Missense p.Y79S c.236A>C 8 74858968 RCCC