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 42711506 42711506 + Silent SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr8:42711506G>A c.573C>T c.(571-573)gtC>gtT p.V191V BRCA 8 42711536 42711536 + Silent SNP C C T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 g.chr8:42711536C>T c.543G>A c.(541-543)ctG>ctA p.L181L BRCA 8 42729139 42729139 + Missense_Mutation SNP G G C TCGA-HN-A2OB-01A-21D-A27P-09 TCGA-HN-A2OB-10B-01D-A27P-09 g.chr8:42729139G>C c.148C>G c.(148-150)Caa>Gaa p.Q50E COAD 8 42705974 42705974 + IGR SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr8:42705974G>A COAD 8 42711334 42711334 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:42711334G>A c.745C>T c.(745-747)Cga>Tga p.R249* COAD 8 42742906 42742906 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:42742906G>A c.102C>T c.(100-102)ttC>ttT p.F34F COADREAD 8 42705974 42705974 + IGR SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr8:42705974G>A COADREAD 8 42711334 42711334 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:42711334G>A c.745C>T c.(745-747)Cga>Tga p.R249* COADREAD 8 42742906 42742906 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:42742906G>A c.102C>T c.(100-102)ttC>ttT p.F34F ESCA 8 42720613 42720613 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 g.chr8:42720613G>A c.342C>T c.(340-342)taC>taT p.Y114Y LUAD 8 42725241 42725241 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr8:42725241G>A c.228C>T c.(226-228)gcC>gcT p.A76A LUSC 8 42729125 42729125 + Silent SNP T T C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr8:42729125T>C c.162A>G c.(160-162)ccA>ccG p.P54P PAAD 8 42725169 42725169 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:42725169G>T c.300C>A c.(298-300)acC>acA p.T100T SKCM 8 42725192 42725192 + Nonsense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr8:42725192G>A c.277C>T c.(277-279)Caa>Taa p.Q93*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 8 42725212 42725212 single base substitution T C exon_variant BLCA-CN 8 42725212 42725212 single base substitution T C missense_variant T15A 43A>G BLCA-CN 8 42725212 42725212 single base substitution T C missense_variant Y2C 5A>G BLCA-CN 8 42725212 42725212 single base substitution T C missense_variant Y86C 257A>G BRCA-EU 8 42700198 42700198 single base substitution C G downstream_gene_variant BRCA-EU 8 42701170 42701170 single base substitution G A downstream_gene_variant BRCA-EU 8 42701641 42701641 single base substitution C T downstream_gene_variant BRCA-EU 8 42702911 42702911 insertion of <=200bp - T downstream_gene_variant BRCA-EU 8 42703388 42703388 single base substitution C T downstream_gene_variant BRCA-EU 8 42704201 42704201 single base substitution T A downstream_gene_variant BRCA-EU 8 42705098 42705098 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 42705098 42705098 single base substitution G A downstream_gene_variant BRCA-EU 8 42706148 42706148 single base substitution C A downstream_gene_variant BRCA-EU 8 42706148 42706148 single base substitution C A intron_variant BRCA-EU 8 42706168 42706168 single base substitution T A downstream_gene_variant BRCA-EU 8 42706168 42706168 single base substitution T A intron_variant BRCA-EU 8 42706289 42706289 single base substitution C G downstream_gene_variant BRCA-EU 8 42706289 42706289 single base substitution C G intron_variant BRCA-EU 8 42708776 42708776 single base substitution T C 3_prime_UTR_variant BRCA-EU 8 42708776 42708776 single base substitution T C downstream_gene_variant BRCA-EU 8 42708776 42708776 single base substitution T C intron_variant BRCA-EU 8 42709120 42709120 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 42709120 42709120 single base substitution C G downstream_gene_variant BRCA-EU 8 42709120 42709120 single base substitution C G intron_variant BRCA-EU 8 42710377 42710377 single base substitution T C 3_prime_UTR_variant BRCA-EU 8 42710377 42710377 single base substitution T C downstream_gene_variant BRCA-EU 8 42710377 42710377 single base substitution T C intron_variant BRCA-EU 8 42711158 42711158 single base substitution G C 3_prime_UTR_variant BRCA-EU 8 42711158 42711158 single base substitution G C intron_variant BRCA-EU 8 42712014 42712014 single base substitution C A downstream_gene_variant BRCA-EU 8 42712014 42712014 single base substitution C A intron_variant BRCA-EU 8 42713212 42713212 single base substitution G A downstream_gene_variant BRCA-EU 8 42713212 42713212 single base substitution G A intron_variant BRCA-EU 8 42713541 42713541 single base substitution G A downstream_gene_variant BRCA-EU 8 42713541 42713541 single base substitution G A intron_variant BRCA-EU 8 42714550 42714550 single base substitution G T downstream_gene_variant BRCA-EU 8 42714550 42714550 single base substitution G T intron_variant BRCA-EU 8 42715043 42715043 single base substitution T C downstream_gene_variant BRCA-EU 8 42715043 42715043 single base substitution T C intron_variant BRCA-EU 8 42716542 42716542 single base substitution A G downstream_gene_variant BRCA-EU 8 42716542 42716542 single base substitution A G exon_variant BRCA-EU 8 42716542 42716542 single base substitution A G intron_variant BRCA-EU 8 42718107 42718107 single base substitution C A downstream_gene_variant BRCA-EU 8 42718107 42718107 single base substitution C A intron_variant BRCA-EU 8 42718286 42718286 single base substitution G C downstream_gene_variant BRCA-EU 8 42718286 42718286 single base substitution G C intron_variant BRCA-EU 8 42718596 42718596 single base substitution A T downstream_gene_variant BRCA-EU 8 42718596 42718596 single base substitution A T intron_variant BRCA-EU 8 42719763 42719763 single base substitution C T downstream_gene_variant BRCA-EU 8 42719763 42719763 single base substitution C T intron_variant BRCA-EU 8 42720060 42720060 single base substitution G T downstream_gene_variant BRCA-EU 8 42720060 42720060 single base substitution G T intron_variant BRCA-EU 8 42720083 42720083 single base substitution G C downstream_gene_variant BRCA-EU 8 42720083 42720083 single base substitution G C intron_variant BRCA-EU 8 42720221 42720221 single base substitution G T downstream_gene_variant BRCA-EU 8 42720221 42720221 single base substitution G T intron_variant BRCA-EU 8 42720223 42720223 single base substitution G A downstream_gene_variant BRCA-EU 8 42720223 42720223 single base substitution G A intron_variant BRCA-EU 8 42720295 42720295 single base substitution G T downstream_gene_variant BRCA-EU 8 42720295 42720295 single base substitution G T intron_variant BRCA-EU 8 42720392 42720392 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 42720392 42720392 deletion of <=200bp A - intron_variant BRCA-EU 8 42720402 42720402 insertion of <=200bp - A downstream_gene_variant BRCA-EU 8 42720402 42720402 insertion of <=200bp - A intron_variant BRCA-EU 8 42720571 42720571 single base substitution G C downstream_gene_variant BRCA-EU 8 42720571 42720571 single base substitution G C exon_variant BRCA-EU 8 42720571 42720571 single base substitution G C intron_variant BRCA-EU 8 42720571 42720571 single base substitution G C missense_variant I128M 384C>G BRCA-EU 8 42720571 42720571 single base substitution G C missense_variant I44M 132C>G BRCA-EU 8 42721279 42721279 single base substitution C G intron_variant BRCA-EU 8 42723973 42723973 single base substitution C T intron_variant BRCA-EU 8 42724618 42724618 single base substitution A G intron_variant BRCA-EU 8 42725426 42725426 single base substitution T A intron_variant BRCA-EU 8 42725757 42725757 single base substitution C G intron_variant BRCA-EU 8 42726185 42726185 single base substitution C G intron_variant BRCA-EU 8 42726627 42726627 single base substitution C T intron_variant BRCA-EU 8 42728692 42728692 insertion of <=200bp - A intron_variant BRCA-EU 8 42729052 42729052 single base substitution C G intron_variant BRCA-EU 8 42730595 42730595 deletion of <=200bp A - intron_variant BRCA-EU 8 42731207 42731207 single base substitution G C intron_variant BRCA-EU 8 42731528 42731528 single base substitution C G intron_variant BRCA-EU 8 42731732 42731732 single base substitution C T intron_variant BRCA-EU 8 42731938 42731938 single base substitution G A intron_variant BRCA-EU 8 42733070 42733070 single base substitution G A intron_variant BRCA-EU 8 42733502 42733502 single base substitution C A intron_variant BRCA-EU 8 42733537 42733538 deletion of <=200bp AT - intron_variant BRCA-EU 8 42734337 42734337 single base substitution A T intron_variant BRCA-EU 8 42734662 42734662 single base substitution C T intron_variant BRCA-EU 8 42736699 42736699 single base substitution T C intron_variant BRCA-EU 8 42737217 42737217 deletion of <=200bp A - intron_variant BRCA-EU 8 42738157 42738157 single base substitution G A downstream_gene_variant BRCA-EU 8 42738157 42738157 single base substitution G A intron_variant BRCA-EU 8 42741378 42741378 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 42741378 42741378 deletion of <=200bp T - intron_variant BRCA-EU 8 42742342 42742342 single base substitution G A downstream_gene_variant BRCA-EU 8 42742342 42742342 single base substitution G A intron_variant BRCA-EU 8 42745673 42745673 single base substitution G T intron_variant BRCA-EU 8 42747352 42747352 single base substitution G C intron_variant BRCA-EU 8 42747416 42747443 deletion of <=200bp TCCCAGGCTCAATCAGTCTTCCTGCTGT - intron_variant BRCA-EU 8 42749061 42749061 single base substitution G C intron_variant BRCA-EU 8 42752945 42752945 single base substitution C T upstream_gene_variant BRCA-EU 8 42754517 42754517 single base substitution G A upstream_gene_variant BRCA-EU 8 42755814 42755814 single base substitution A C upstream_gene_variant BRCA-EU 8 42756840 42756840 single base substitution C T upstream_gene_variant BRCA-EU 8 42757008 42757008 single base substitution C T upstream_gene_variant BRCA-FR 8 42709120 42709120 single base substitution C G 3_prime_UTR_variant BRCA-FR 8 42709120 42709120 single base substitution C G downstream_gene_variant BRCA-FR 8 42709120 42709120 single base substitution C G intron_variant BRCA-FR 8 42716542 42716542 single base substitution A G downstream_gene_variant BRCA-FR 8 42716542 42716542 single base substitution A G exon_variant BRCA-FR 8 42716542 42716542 single base substitution A G intron_variant BRCA-FR 8 42717514 42717514 single base substitution A C downstream_gene_variant BRCA-FR 8 42717514 42717514 single base substitution A C intron_variant BRCA-FR 8 42726627 42726627 single base substitution C T intron_variant BRCA-FR 8 42729052 42729052 single base substitution C G intron_variant BRCA-FR 8 42731207 42731207 single base substitution G C intron_variant BRCA-FR 8 42735653 42735653 single base substitution G T intron_variant BRCA-FR 8 42747352 42747352 single base substitution G C intron_variant BRCA-FR 8 42752149 42752149 single base substitution C T intron_variant BRCA-FR 8 42752149 42752149 single base substitution C T upstream_gene_variant BRCA-FR 8 42753681 42753681 single base substitution G C upstream_gene_variant BRCA-FR 8 42756351 42756351 single base substitution G A upstream_gene_variant BRCA-UK 8 42733537 42733538 deletion of <=200bp AT - intron_variant BRCA-UK 8 42734337 42734337 single base substitution A T intron_variant BRCA-US 8 42711536 42711536 single base substitution C T 3_prime_UTR_variant BRCA-US 8 42711536 42711536 single base substitution C T downstream_gene_variant BRCA-US 8 42711536 42711536 single base substitution C T intron_variant BRCA-US 8 42711536 42711536 single base substitution C T synonymous_variant L181L 543G>A BRCA-US 8 42711536 42711536 single base substitution C T synonymous_variant L85L 255G>A BRCA-US 8 42711536 42711536 single base substitution C T synonymous_variant L97L 291G>A CLLE-ES 8 42702942 42702942 single base substitution G A downstream_gene_variant CLLE-ES 8 42706148 42706148 single base substitution C T downstream_gene_variant CLLE-ES 8 42706148 42706148 single base substitution C T intron_variant CLLE-ES 8 42717190 42717190 single base substitution T G downstream_gene_variant CLLE-ES 8 42717190 42717190 single base substitution T G intron_variant CLLE-ES 8 42734754 42734754 single base substitution A G intron_variant CLLE-ES 8 42739491 42739491 single base substitution T C downstream_gene_variant CLLE-ES 8 42739491 42739491 single base substitution T C intron_variant COAD-US 8 42705974 42705974 single base substitution G A downstream_gene_variant COAD-US 8 42705974 42705974 single base substitution G A missense_variant T188M 563C>T COAD-US 8 42711334 42711334 single base substitution G A 3_prime_UTR_variant COAD-US 8 42711334 42711334 single base substitution G A intron_variant COAD-US 8 42711334 42711334 single base substitution G A stop_gained R153* 457C>T COAD-US 8 42711334 42711334 single base substitution G A stop_gained R165* 493C>T COAD-US 8 42711334 42711334 single base substitution G A stop_gained R249* 745C>T COAD-US 8 42742906 42742906 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 8 42742906 42742906 single base substitution G A exon_variant COAD-US 8 42742906 42742906 single base substitution G A intron_variant COAD-US 8 42742906 42742906 single base substitution G A synonymous_variant F34F 102C>T COCA-CN 8 42705986 42705986 single base substitution C T downstream_gene_variant COCA-CN 8 42705986 42705986 single base substitution C T missense_variant R184H 551G>A COCA-CN 8 42708309 42708309 single base substitution A C downstream_gene_variant COCA-CN 8 42708309 42708309 single base substitution A C intron_variant COCA-CN 8 42711961 42711961 single base substitution A G downstream_gene_variant COCA-CN 8 42711961 42711961 single base substitution A G intron_variant COCA-CN 8 42716892 42716892 single base substitution C A 3_prime_UTR_variant COCA-CN 8 42716892 42716892 single base substitution C A downstream_gene_variant COCA-CN 8 42716892 42716892 single base substitution C A exon_variant COCA-CN 8 42716892 42716892 single base substitution C A intron_variant COCA-CN 8 42716892 42716892 single base substitution C A missense_variant R168I 503G>T COCA-CN 8 42716892 42716892 single base substitution C A missense_variant R72I 215G>T COCA-CN 8 42716892 42716892 single base substitution C A missense_variant R84I 251G>T COCA-CN 8 42720488 42720488 single base substitution T G downstream_gene_variant COCA-CN 8 42720488 42720488 single base substitution T G intron_variant COCA-CN 8 42755436 42755436 single base substitution A C upstream_gene_variant ESAD-UK 8 42701170 42701170 single base substitution G A downstream_gene_variant ESAD-UK 8 42701539 42701539 deletion of <=200bp A - downstream_gene_variant ESAD-UK 8 42701714 42701714 single base substitution A T downstream_gene_variant ESAD-UK 8 42703217 42703217 single base substitution A T downstream_gene_variant ESAD-UK 8 42703456 42703456 deletion of <=200bp G - downstream_gene_variant ESAD-UK 8 42703630 42703630 single base substitution G A downstream_gene_variant ESAD-UK 8 42704573 42704573 single base substitution G T downstream_gene_variant ESAD-UK 8 42705299 42705299 single base substitution C A 3_prime_UTR_variant ESAD-UK 8 42705299 42705299 single base substitution C A downstream_gene_variant ESAD-UK 8 42708414 42708414 single base substitution T C downstream_gene_variant ESAD-UK 8 42708414 42708414 single base substitution T C intron_variant ESAD-UK 8 42714000 42714000 single base substitution G A downstream_gene_variant ESAD-UK 8 42714000 42714000 single base substitution G A intron_variant ESAD-UK 8 42714169 42714169 insertion of <=200bp - C downstream_gene_variant ESAD-UK 8 42714169 42714169 insertion of <=200bp - C intron_variant ESAD-UK 8 42714543 42714543 single base substitution C T downstream_gene_variant ESAD-UK 8 42714543 42714543 single base substitution C T intron_variant ESAD-UK 8 42714946 42714946 single base substitution C T downstream_gene_variant ESAD-UK 8 42714946 42714946 single base substitution C T intron_variant ESAD-UK 8 42716151 42716151 single base substitution G A downstream_gene_variant ESAD-UK 8 42716151 42716151 single base substitution G A intron_variant ESAD-UK 8 42718608 42718608 single base substitution G C downstream_gene_variant ESAD-UK 8 42718608 42718608 single base substitution G C intron_variant ESAD-UK 8 42718821 42718821 single base substitution G A downstream_gene_variant ESAD-UK 8 42718821 42718821 single base substitution G A intron_variant ESAD-UK 8 42719003 42719003 single base substitution G T downstream_gene_variant ESAD-UK 8 42719003 42719003 single base substitution G T intron_variant ESAD-UK 8 42719027 42719027 single base substitution G C downstream_gene_variant ESAD-UK 8 42719027 42719027 single base substitution G C intron_variant ESAD-UK 8 42721541 42721541 single base substitution G A intron_variant ESAD-UK 8 42721779 42721779 single base substitution T G intron_variant ESAD-UK 8 42722395 42722395 single base substitution A C intron_variant ESAD-UK 8 42722755 42722755 deletion of <=200bp A - intron_variant ESAD-UK 8 42723479 42723479 single base substitution C T intron_variant ESAD-UK 8 42723950 42723950 single base substitution G A intron_variant ESAD-UK 8 42725940 42725940 single base substitution T G intron_variant ESAD-UK 8 42726541 42726541 single base substitution T C intron_variant ESAD-UK 8 42726647 42726647 single base substitution T G intron_variant ESAD-UK 8 42726781 42726781 single base substitution C G intron_variant ESAD-UK 8 42728502 42728502 single base substitution T C intron_variant ESAD-UK 8 42729360 42729360 single base substitution C A intron_variant ESAD-UK 8 42730969 42730969 single base substitution C T intron_variant ESAD-UK 8 42731179 42731179 single base substitution C G intron_variant ESAD-UK 8 42733459 42733459 single base substitution A C intron_variant ESAD-UK 8 42735000 42735000 single base substitution T G intron_variant ESAD-UK 8 42735690 42735690 single base substitution G A intron_variant ESAD-UK 8 42739670 42739670 single base substitution A T downstream_gene_variant ESAD-UK 8 42739670 42739670 single base substitution A T intron_variant ESAD-UK 8 42741603 42741603 single base substitution A C downstream_gene_variant ESAD-UK 8 42741603 42741603 single base substitution A C intron_variant ESAD-UK 8 42741667 42741667 single base substitution C T downstream_gene_variant ESAD-UK 8 42741667 42741667 single base substitution C T intron_variant ESAD-UK 8 42743101 42743101 single base substitution T A intron_variant ESAD-UK 8 42744251 42744251 single base substitution A G intron_variant ESAD-UK 8 42746953 42746953 single base substitution C T intron_variant ESAD-UK 8 42755070 42755070 single base substitution G C upstream_gene_variant ESAD-UK 8 42756155 42756155 single base substitution G A upstream_gene_variant LICA-CN 8 42742914 42742914 single base substitution C A 5_prime_UTR_variant LICA-CN 8 42742914 42742914 single base substitution C A exon_variant LICA-CN 8 42742914 42742914 single base substitution C A intron_variant LICA-CN 8 42742914 42742914 single base substitution C A missense_variant V32F 94G>T LICA-CN 8 42742915 42742915 single base substitution C T 5_prime_UTR_variant LICA-CN 8 42742915 42742915 single base substitution C T exon_variant LICA-CN 8 42742915 42742915 single base substitution C T intron_variant LICA-CN 8 42742915 42742915 single base substitution C T synonymous_variant V31V 93G>A LICA-FR 8 42733679 42733679 single base substitution A G intron_variant LICA-FR 8 42747818 42747818 deletion of <=200bp T - intron_variant LICA-FR 8 42752112 42752112 single base substitution T G intron_variant LICA-FR 8 42752112 42752112 single base substitution T G upstream_gene_variant LINC-JP 8 42700871 42700871 single base substitution C T downstream_gene_variant LINC-JP 8 42717012 42717012 insertion of <=200bp - A downstream_gene_variant LINC-JP 8 42717012 42717012 insertion of <=200bp - A intron_variant LINC-JP 8 42728744 42728744 single base substitution T C intron_variant LINC-JP 8 42731722 42731722 single base substitution C T intron_variant LINC-JP 8 42751573 42751573 single base substitution C G 5_prime_UTR_variant LINC-JP 8 42751573 42751573 single base substitution C G intron_variant LIRI-JP 8 42703204 42703204 single base substitution T C downstream_gene_variant LIRI-JP 8 42706473 42706473 single base substitution G A downstream_gene_variant LIRI-JP 8 42706473 42706473 single base substitution G A intron_variant LIRI-JP 8 42708493 42708493 single base substitution T C 3_prime_UTR_variant LIRI-JP 8 42708493 42708493 single base substitution T C downstream_gene_variant LIRI-JP 8 42708493 42708493 single base substitution T C intron_variant LIRI-JP 8 42709507 42709507 single base substitution T C 3_prime_UTR_variant LIRI-JP 8 42709507 42709507 single base substitution T C downstream_gene_variant LIRI-JP 8 42709507 42709507 single base substitution T C intron_variant LIRI-JP 8 42716257 42716279 deletion of <=200bp TCAAAAGACAAATGGTGTTTTAG - downstream_gene_variant LIRI-JP 8 42716257 42716279 deletion of <=200bp TCAAAAGACAAATGGTGTTTTAG - intron_variant LIRI-JP 8 42719970 42719971 deletion of <=200bp AT - downstream_gene_variant LIRI-JP 8 42719970 42719971 deletion of <=200bp AT - intron_variant LIRI-JP 8 42720688 42720688 single base substitution C T intron_variant LIRI-JP 8 42724308 42724308 single base substitution C A intron_variant LIRI-JP 8 42725504 42725504 single base substitution A C intron_variant LIRI-JP 8 42727788 42727788 single base substitution A G intron_variant LIRI-JP 8 42729202 42729202 single base substitution C A intron_variant LIRI-JP 8 42731414 42731414 single base substitution C T intron_variant LIRI-JP 8 42731537 42731537 single base substitution G A intron_variant LIRI-JP 8 42734748 42734748 single base substitution C A intron_variant LIRI-JP 8 42737306 42737306 single base substitution G A intron_variant LIRI-JP 8 42738417 42738417 single base substitution C A downstream_gene_variant LIRI-JP 8 42738417 42738417 single base substitution C A intron_variant LIRI-JP 8 42741359 42741359 single base substitution T A downstream_gene_variant LIRI-JP 8 42741359 42741359 single base substitution T A intron_variant LIRI-JP 8 42741878 42741878 single base substitution T C downstream_gene_variant LIRI-JP 8 42741878 42741878 single base substitution T C intron_variant LIRI-JP 8 42741923 42741923 single base substitution T G downstream_gene_variant LIRI-JP 8 42741923 42741923 single base substitution T G intron_variant LIRI-JP 8 42746330 42746330 single base substitution C A intron_variant LIRI-JP 8 42746925 42746925 single base substitution A G intron_variant LIRI-JP 8 42747474 42747474 single base substitution A C intron_variant LUSC-KR 8 42713731 42713731 single base substitution C A downstream_gene_variant LUSC-KR 8 42713731 42713731 single base substitution C A intron_variant LUSC-KR 8 42715105 42715105 single base substitution T A downstream_gene_variant LUSC-KR 8 42715105 42715105 single base substitution T A intron_variant LUSC-KR 8 42717618 42717618 single base substitution C G downstream_gene_variant LUSC-KR 8 42717618 42717618 single base substitution C G intron_variant LUSC-KR 8 42722443 42722443 single base substitution T A intron_variant LUSC-KR 8 42725317 42725317 single base substitution T C intron_variant LUSC-KR 8 42729097 42729097 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 8 42729097 42729097 single base substitution G A exon_variant LUSC-KR 8 42729097 42729097 single base substitution G A stop_gained R64* 190C>T LUSC-KR 8 42733722 42733722 single base substitution T G intron_variant LUSC-KR 8 42742736 42742736 single base substitution T G downstream_gene_variant LUSC-KR 8 42742736 42742736 single base substitution T G intron_variant LUSC-KR 8 42743301 42743301 single base substitution C A intron_variant LUSC-KR 8 42752927 42752927 single base substitution C A upstream_gene_variant LUSC-KR 8 42754092 42754092 single base substitution C G upstream_gene_variant LUSC-KR 8 42756679 42756679 single base substitution G A upstream_gene_variant LUSC-KR 8 42757269 42757269 single base substitution C T upstream_gene_variant LUSC-US 8 42729125 42729125 single base substitution T C 5_prime_UTR_variant LUSC-US 8 42729125 42729125 single base substitution T C exon_variant LUSC-US 8 42729125 42729125 single base substitution T C synonymous_variant P54P 162A>G MALY-DE 8 42713080 42713080 single base substitution A C downstream_gene_variant MALY-DE 8 42713080 42713080 single base substitution A C intron_variant MALY-DE 8 42713386 42713386 single base substitution T C downstream_gene_variant MALY-DE 8 42713386 42713386 single base substitution T C intron_variant MALY-DE 8 42720667 42720667 single base substitution T G intron_variant MALY-DE 8 42746955 42746955 single base substitution G T intron_variant MALY-DE 8 42753702 42753702 single base substitution T G upstream_gene_variant MALY-DE 8 42754947 42754947 single base substitution G T upstream_gene_variant MELA-AU 8 42699926 42699926 single base substitution T C downstream_gene_variant MELA-AU 8 42699934 42699934 single base substitution T A downstream_gene_variant MELA-AU 8 42699992 42699992 single base substitution C T downstream_gene_variant MELA-AU 8 42700234 42700234 single base substitution C T downstream_gene_variant MELA-AU 8 42700392 42700392 single base substitution C T downstream_gene_variant MELA-AU 8 42700456 42700456 single base substitution G A downstream_gene_variant MELA-AU 8 42700836 42700837 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 42700945 42700945 single base substitution C T downstream_gene_variant MELA-AU 8 42701311 42701311 single base substitution G C downstream_gene_variant MELA-AU 8 42703620 42703620 single base substitution G A downstream_gene_variant MELA-AU 8 42704655 42704655 single base substitution G A downstream_gene_variant MELA-AU 8 42705314 42705314 single base substitution G A 3_prime_UTR_variant MELA-AU 8 42705314 42705314 single base substitution G A downstream_gene_variant MELA-AU 8 42706078 42706078 single base substitution C T downstream_gene_variant MELA-AU 8 42706078 42706078 single base substitution C T synonymous_variant L153L 459G>A MELA-AU 8 42706255 42706255 single base substitution C T downstream_gene_variant MELA-AU 8 42706255 42706255 single base substitution C T intron_variant MELA-AU 8 42706635 42706635 single base substitution G A downstream_gene_variant MELA-AU 8 42706635 42706635 single base substitution G A intron_variant MELA-AU 8 42709703 42709703 single base substitution C T 3_prime_UTR_variant MELA-AU 8 42709703 42709703 single base substitution C T downstream_gene_variant MELA-AU 8 42709703 42709703 single base substitution C T intron_variant MELA-AU 8 42709728 42709728 single base substitution T G 3_prime_UTR_variant MELA-AU 8 42709728 42709728 single base substitution T G downstream_gene_variant MELA-AU 8 42709728 42709728 single base substitution T G intron_variant MELA-AU 8 42710321 42710321 single base substitution A T 3_prime_UTR_variant MELA-AU 8 42710321 42710321 single base substitution A T downstream_gene_variant MELA-AU 8 42710321 42710321 single base substitution A T intron_variant MELA-AU 8 42711043 42711043 single base substitution A T 3_prime_UTR_variant MELA-AU 8 42711043 42711043 single base substitution A T intron_variant MELA-AU 8 42711441 42711441 single base substitution A G 3_prime_UTR_variant MELA-AU 8 42711441 42711441 single base substitution A G intron_variant MELA-AU 8 42711441 42711441 single base substitution A G missense_variant L117P 350T>C MELA-AU 8 42711441 42711441 single base substitution A G missense_variant L129P 386T>C MELA-AU 8 42711441 42711441 single base substitution A G missense_variant L213P 638T>C MELA-AU 8 42713397 42713397 single base substitution G A downstream_gene_variant MELA-AU 8 42713397 42713397 single base substitution G A intron_variant MELA-AU 8 42713471 42713471 single base substitution G A downstream_gene_variant MELA-AU 8 42713471 42713471 single base substitution G A intron_variant MELA-AU 8 42714596 42714596 single base substitution G A downstream_gene_variant MELA-AU 8 42714596 42714596 single base substitution G A intron_variant MELA-AU 8 42715327 42715327 single base substitution G A downstream_gene_variant MELA-AU 8 42715327 42715327 single base substitution G A intron_variant MELA-AU 8 42715336 42715336 single base substitution G A downstream_gene_variant MELA-AU 8 42715336 42715336 single base substitution G A intron_variant MELA-AU 8 42715338 42715338 single base substitution A T downstream_gene_variant MELA-AU 8 42715338 42715338 single base substitution A T intron_variant MELA-AU 8 42716401 42716401 single base substitution C T downstream_gene_variant MELA-AU 8 42716401 42716401 single base substitution C T intron_variant MELA-AU 8 42716912 42716912 single base substitution C T 3_prime_UTR_variant MELA-AU 8 42716912 42716912 single base substitution C T downstream_gene_variant MELA-AU 8 42716912 42716912 single base substitution C T exon_variant MELA-AU 8 42716912 42716912 single base substitution C T intron_variant MELA-AU 8 42716912 42716912 single base substitution C T synonymous_variant R161R 483G>A MELA-AU 8 42716912 42716912 single base substitution C T synonymous_variant R65R 195G>A MELA-AU 8 42716912 42716912 single base substitution C T synonymous_variant R77R 231G>A MELA-AU 8 42717502 42717502 single base substitution A T downstream_gene_variant MELA-AU 8 42717502 42717502 single base substitution A T intron_variant MELA-AU 8 42717582 42717582 single base substitution G A downstream_gene_variant MELA-AU 8 42717582 42717582 single base substitution G A intron_variant MELA-AU 8 42718343 42718343 single base substitution G A downstream_gene_variant MELA-AU 8 42718343 42718343 single base substitution G A intron_variant MELA-AU 8 42719458 42719458 single base substitution G A downstream_gene_variant MELA-AU 8 42719458 42719458 single base substitution G A intron_variant MELA-AU 8 42720351 42720351 single base substitution G A downstream_gene_variant MELA-AU 8 42720351 42720351 single base substitution G A intron_variant MELA-AU 8 42720425 42720425 single base substitution G A downstream_gene_variant MELA-AU 8 42720425 42720425 single base substitution G A intron_variant MELA-AU 8 42722688 42722688 single base substitution G A intron_variant MELA-AU 8 42723123 42723123 single base substitution G A intron_variant MELA-AU 8 42723140 42723140 single base substitution G A intron_variant MELA-AU 8 42723767 42723767 single base substitution G T intron_variant MELA-AU 8 42724103 42724103 single base substitution G A intron_variant MELA-AU 8 42725140 42725140 single base substitution T A splice_region_variant MELA-AU 8 42726128 42726128 single base substitution G A intron_variant MELA-AU 8 42728038 42728038 single base substitution C T intron_variant MELA-AU 8 42728052 42728052 single base substitution G A intron_variant MELA-AU 8 42728689 42728689 single base substitution G A intron_variant MELA-AU 8 42730541 42730541 single base substitution G A intron_variant MELA-AU 8 42731129 42731129 single base substitution G A intron_variant MELA-AU 8 42732824 42732824 single base substitution G A intron_variant MELA-AU 8 42733189 42733189 single base substitution A C intron_variant MELA-AU 8 42733325 42733325 single base substitution A G intron_variant MELA-AU 8 42733446 42733446 single base substitution G A intron_variant MELA-AU 8 42733493 42733493 single base substitution G A intron_variant MELA-AU 8 42733959 42733959 single base substitution C T intron_variant MELA-AU 8 42734115 42734115 single base substitution G A intron_variant MELA-AU 8 42734909 42734909 single base substitution C T intron_variant MELA-AU 8 42734952 42734952 single base substitution G A intron_variant MELA-AU 8 42735252 42735252 single base substitution G A intron_variant MELA-AU 8 42735454 42735454 single base substitution G A intron_variant MELA-AU 8 42735771 42735771 single base substitution G A intron_variant MELA-AU 8 42736325 42736325 single base substitution C A intron_variant MELA-AU 8 42736572 42736572 single base substitution G T intron_variant MELA-AU 8 42736741 42736741 single base substitution G A intron_variant MELA-AU 8 42737106 42737106 single base substitution G A intron_variant MELA-AU 8 42738190 42738190 single base substitution G A downstream_gene_variant MELA-AU 8 42738190 42738190 single base substitution G A intron_variant MELA-AU 8 42738220 42738220 single base substitution G A downstream_gene_variant MELA-AU 8 42738220 42738220 single base substitution G A intron_variant MELA-AU 8 42738268 42738268 single base substitution G A downstream_gene_variant MELA-AU 8 42738268 42738268 single base substitution G A intron_variant MELA-AU 8 42738869 42738869 single base substitution A T downstream_gene_variant MELA-AU 8 42738869 42738869 single base substitution A T intron_variant MELA-AU 8 42739324 42739324 single base substitution G A downstream_gene_variant MELA-AU 8 42739324 42739324 single base substitution G A intron_variant MELA-AU 8 42741704 42741704 single base substitution G A downstream_gene_variant MELA-AU 8 42741704 42741704 single base substitution G A intron_variant MELA-AU 8 42741732 42741732 single base substitution C T downstream_gene_variant MELA-AU 8 42741732 42741732 single base substitution C T intron_variant MELA-AU 8 42741744 42741744 single base substitution T A downstream_gene_variant MELA-AU 8 42741744 42741744 single base substitution T A intron_variant MELA-AU 8 42741972 42741972 single base substitution C T downstream_gene_variant MELA-AU 8 42741972 42741972 single base substitution C T intron_variant MELA-AU 8 42742118 42742118 single base substitution G A downstream_gene_variant MELA-AU 8 42742118 42742118 single base substitution G A intron_variant MELA-AU 8 42742923 42742923 single base substitution C T 5_prime_UTR_variant MELA-AU 8 42742923 42742923 single base substitution C T exon_variant MELA-AU 8 42742923 42742923 single base substitution C T intron_variant MELA-AU 8 42742923 42742923 single base substitution C T missense_variant A29T 85G>A MELA-AU 8 42743231 42743231 single base substitution G A intron_variant MELA-AU 8 42743959 42743959 single base substitution T G intron_variant MELA-AU 8 42744745 42744745 single base substitution T A intron_variant MELA-AU 8 42747921 42747921 single base substitution G A intron_variant MELA-AU 8 42748269 42748269 single base substitution G A intron_variant MELA-AU 8 42748903 42748903 single base substitution C T intron_variant MELA-AU 8 42749130 42749130 single base substitution G A intron_variant MELA-AU 8 42749966 42749966 single base substitution G A intron_variant MELA-AU 8 42750125 42750125 single base substitution G A intron_variant MELA-AU 8 42750333 42750333 single base substitution C T intron_variant MELA-AU 8 42751495 42751495 single base substitution G A 5_prime_UTR_variant MELA-AU 8 42751495 42751495 single base substitution G A intron_variant MELA-AU 8 42753108 42753108 single base substitution C T upstream_gene_variant MELA-AU 8 42754292 42754292 single base substitution G A upstream_gene_variant MELA-AU 8 42757325 42757325 single base substitution T C upstream_gene_variant ORCA-IN 8 42711334 42711334 single base substitution G A 3_prime_UTR_variant ORCA-IN 8 42711334 42711334 single base substitution G A intron_variant ORCA-IN 8 42711334 42711334 single base substitution G A stop_gained R153* 457C>T ORCA-IN 8 42711334 42711334 single base substitution G A stop_gained R165* 493C>T ORCA-IN 8 42711334 42711334 single base substitution G A stop_gained R249* 745C>T ORCA-IN 8 42719121 42719121 single base substitution A T downstream_gene_variant ORCA-IN 8 42719121 42719121 single base substitution A T intron_variant OV-AU 8 42709508 42709508 single base substitution T G 3_prime_UTR_variant OV-AU 8 42709508 42709508 single base substitution T G downstream_gene_variant OV-AU 8 42709508 42709508 single base substitution T G intron_variant OV-AU 8 42710245 42710245 single base substitution C T 3_prime_UTR_variant OV-AU 8 42710245 42710245 single base substitution C T downstream_gene_variant OV-AU 8 42710245 42710245 single base substitution C T intron_variant OV-AU 8 42718356 42718356 single base substitution T C downstream_gene_variant OV-AU 8 42718356 42718356 single base substitution T C intron_variant OV-AU 8 42732168 42732168 single base substitution C G intron_variant OV-AU 8 42740699 42740699 single base substitution C T downstream_gene_variant OV-AU 8 42740699 42740699 single base substitution C T intron_variant OV-AU 8 42745416 42745416 single base substitution G T intron_variant PACA-AU 8 42700054 42700054 single base substitution C T downstream_gene_variant PACA-AU 8 42705389 42705408 deletion of <=200bp TGGGGCCTTGCAGGCTGGCG - 3_prime_UTR_variant PACA-AU 8 42705389 42705408 deletion of <=200bp TGGGGCCTTGCAGGCTGGCG - downstream_gene_variant PACA-AU 8 42710545 42710545 single base substitution G A 3_prime_UTR_variant PACA-AU 8 42710545 42710545 single base substitution G A downstream_gene_variant PACA-AU 8 42710545 42710545 single base substitution G A intron_variant PACA-AU 8 42712450 42712450 single base substitution G A downstream_gene_variant PACA-AU 8 42712450 42712450 single base substitution G A intron_variant PACA-AU 8 42718596 42718596 single base substitution A T downstream_gene_variant PACA-AU 8 42718596 42718596 single base substitution A T intron_variant PACA-AU 8 42719108 42719108 insertion of <=200bp - GA downstream_gene_variant PACA-AU 8 42719108 42719108 insertion of <=200bp - GA intron_variant PACA-AU 8 42719125 42719125 single base substitution T A downstream_gene_variant PACA-AU 8 42719125 42719125 single base substitution T A intron_variant PACA-AU 8 42720372 42720372 single base substitution G A downstream_gene_variant PACA-AU 8 42720372 42720372 single base substitution G A intron_variant PACA-AU 8 42721629 42721629 single base substitution G T intron_variant PACA-AU 8 42727743 42727743 single base substitution G A intron_variant PACA-AU 8 42738917 42738917 single base substitution A G downstream_gene_variant PACA-AU 8 42738917 42738917 single base substitution A G intron_variant PACA-AU 8 42738925 42738925 single base substitution C G downstream_gene_variant PACA-AU 8 42738925 42738925 single base substitution C G intron_variant PACA-AU 8 42740912 42740912 insertion of <=200bp - T downstream_gene_variant PACA-AU 8 42740912 42740912 insertion of <=200bp - T intron_variant PACA-AU 8 42741850 42741850 single base substitution G A downstream_gene_variant PACA-AU 8 42741850 42741850 single base substitution G A intron_variant PACA-AU 8 42755610 42755610 single base substitution C T upstream_gene_variant PACA-CA 8 42700599 42700599 single base substitution G T downstream_gene_variant PACA-CA 8 42700872 42700872 single base substitution G A downstream_gene_variant PACA-CA 8 42701454 42701454 single base substitution C G downstream_gene_variant PACA-CA 8 42701538 42701538 insertion of <=200bp - A downstream_gene_variant PACA-CA 8 42703630 42703630 single base substitution G A downstream_gene_variant PACA-CA 8 42705961 42705961 single base substitution A G downstream_gene_variant PACA-CA 8 42705961 42705961 single base substitution A G synonymous_variant C192C 576T>C PACA-CA 8 42712517 42712517 single base substitution A G downstream_gene_variant PACA-CA 8 42712517 42712517 single base substitution A G intron_variant PACA-CA 8 42714151 42714151 single base substitution C A downstream_gene_variant PACA-CA 8 42714151 42714151 single base substitution C A intron_variant PACA-CA 8 42718048 42718048 single base substitution C T downstream_gene_variant PACA-CA 8 42718048 42718048 single base substitution C T intron_variant PACA-CA 8 42720256 42720256 single base substitution C T downstream_gene_variant PACA-CA 8 42720256 42720256 single base substitution C T intron_variant PACA-CA 8 42720560 42720560 single base substitution G A downstream_gene_variant PACA-CA 8 42720560 42720560 single base substitution G A intron_variant PACA-CA 8 42720560 42720560 single base substitution G A missense_variant T132M 395C>T PACA-CA 8 42720560 42720560 single base substitution G A missense_variant T48M 143C>T PACA-CA 8 42720560 42720560 single base substitution G A splice_region_variant PACA-CA 8 42729181 42729181 single base substitution G C intron_variant PACA-CA 8 42733107 42733107 single base substitution G A intron_variant PACA-CA 8 42733764 42733764 single base substitution A T intron_variant PACA-CA 8 42738111 42738111 single base substitution C T downstream_gene_variant PACA-CA 8 42738111 42738111 single base substitution C T intron_variant PACA-CA 8 42740899 42740899 deletion of <=200bp T - downstream_gene_variant PACA-CA 8 42740899 42740899 deletion of <=200bp T - intron_variant PACA-CA 8 42747175 42747175 single base substitution A G intron_variant PACA-CA 8 42749458 42749458 single base substitution G C intron_variant PACA-CA 8 42749918 42749918 single base substitution G T intron_variant PACA-CA 8 42750003 42750003 single base substitution G T intron_variant PACA-CA 8 42750590 42750590 single base substitution G T intron_variant PACA-CA 8 42752680 42752680 single base substitution C G upstream_gene_variant PACA-CA 8 42752987 42752987 single base substitution C G upstream_gene_variant PACA-CA 8 42754780 42754780 single base substitution C T upstream_gene_variant PAEN-AU 8 42700600 42700600 single base substitution T G downstream_gene_variant PAEN-AU 8 42703553 42703553 single base substitution C G downstream_gene_variant PAEN-IT 8 42735295 42735295 single base substitution G A intron_variant PAEN-IT 8 42747712 42747712 single base substitution T C intron_variant PBCA-DE 8 42718587 42718587 deletion of <=200bp A - downstream_gene_variant PBCA-DE 8 42718587 42718587 deletion of <=200bp A - intron_variant PBCA-DE 8 42723268 42723268 single base substitution T G intron_variant PBCA-DE 8 42733481 42733481 single base substitution G A intron_variant PBCA-DE 8 42740024 42740024 single base substitution G T downstream_gene_variant PBCA-DE 8 42740024 42740024 single base substitution G T intron_variant PBCA-DE 8 42740034 42740035 deletion of <=200bp GG - downstream_gene_variant PBCA-DE 8 42740034 42740035 deletion of <=200bp GG - intron_variant PBCA-DE 8 42741367 42741367 deletion of <=200bp A - downstream_gene_variant PBCA-DE 8 42741367 42741367 deletion of <=200bp A - intron_variant PBCA-DE 8 42754461 42754461 single base substitution G A upstream_gene_variant PRAD-CA 8 42700599 42700599 single base substitution G T downstream_gene_variant PRAD-CA 8 42737172 42737172 single base substitution C G intron_variant PRAD-CA 8 42741790 42741790 single base substitution G C downstream_gene_variant PRAD-CA 8 42741790 42741790 single base substitution G C intron_variant PRAD-UK 8 42701539 42701539 insertion of <=200bp - A downstream_gene_variant PRAD-UK 8 42701795 42701795 single base substitution A C downstream_gene_variant PRAD-UK 8 42706981 42706981 single base substitution G C downstream_gene_variant PRAD-UK 8 42706981 42706981 single base substitution G C intron_variant PRAD-UK 8 42708375 42708375 single base substitution C G downstream_gene_variant PRAD-UK 8 42708375 42708375 single base substitution C G intron_variant PRAD-UK 8 42719947 42719947 insertion of <=200bp - T downstream_gene_variant PRAD-UK 8 42719947 42719947 insertion of <=200bp - T intron_variant PRAD-UK 8 42732951 42732951 single base substitution C G intron_variant PRAD-UK 8 42744442 42744442 single base substitution G C intron_variant PRAD-UK 8 42744442 42744442 single base substitution G C splice_region_variant PRAD-UK 8 42744514 42744514 deletion of <=200bp T - 5_prime_UTR_variant PRAD-UK 8 42744514 42744514 deletion of <=200bp T - intron_variant PRAD-UK 8 42755727 42755727 single base substitution C T upstream_gene_variant RECA-EU 8 42707769 42707769 single base substitution A G downstream_gene_variant RECA-EU 8 42707769 42707769 single base substitution A G intron_variant RECA-EU 8 42718126 42718126 single base substitution G A downstream_gene_variant RECA-EU 8 42718126 42718126 single base substitution G A intron_variant RECA-EU 8 42725855 42725855 single base substitution G A intron_variant RECA-EU 8 42744720 42744720 single base substitution G C intron_variant RECA-EU 8 42747137 42747137 single base substitution G T intron_variant SKCA-BR 8 42699984 42699984 single base substitution C T downstream_gene_variant SKCA-BR 8 42702052 42702052 single base substitution A T downstream_gene_variant SKCA-BR 8 42707423 42707423 single base substitution C T downstream_gene_variant SKCA-BR 8 42707423 42707423 single base substitution C T intron_variant SKCA-BR 8 42716781 42716781 single base substitution T A downstream_gene_variant SKCA-BR 8 42716781 42716781 single base substitution T A exon_variant SKCA-BR 8 42716781 42716781 single base substitution T A intron_variant SKCA-BR 8 42726718 42726718 insertion of <=200bp - CT intron_variant SKCA-BR 8 42728750 42728750 single base substitution G A intron_variant SKCA-BR 8 42730330 42730330 single base substitution G A intron_variant SKCA-BR 8 42733610 42733610 single base substitution A C intron_variant SKCA-BR 8 42735336 42735336 single base substitution G A intron_variant SKCA-BR 8 42736887 42736887 single base substitution G A intron_variant SKCA-BR 8 42740017 42740017 single base substitution G A downstream_gene_variant SKCA-BR 8 42740017 42740017 single base substitution G A intron_variant SKCA-BR 8 42740033 42740035 deletion of <=200bp CGG - downstream_gene_variant SKCA-BR 8 42740033 42740035 deletion of <=200bp CGG - intron_variant SKCA-BR 8 42740038 42740038 single base substitution T G downstream_gene_variant SKCA-BR 8 42740038 42740038 single base substitution T G intron_variant SKCA-BR 8 42740039 42740039 single base substitution T G downstream_gene_variant SKCA-BR 8 42740039 42740039 single base substitution T G intron_variant SKCA-BR 8 42740043 42740043 single base substitution T C downstream_gene_variant SKCA-BR 8 42740043 42740043 single base substitution T C intron_variant SKCA-BR 8 42740099 42740099 single base substitution C T downstream_gene_variant SKCA-BR 8 42740099 42740099 single base substitution C T intron_variant SKCA-BR 8 42742814 42742814 single base substitution G A downstream_gene_variant SKCA-BR 8 42742814 42742814 single base substitution G A intron_variant SKCA-BR 8 42743898 42743898 insertion of <=200bp - TC intron_variant SKCA-BR 8 42751899 42751899 insertion of <=200bp - CGAA intron_variant SKCA-BR 8 42751899 42751899 insertion of <=200bp - CGAA upstream_gene_variant SKCA-BR 8 42753180 42753180 single base substitution A C upstream_gene_variant SKCA-BR 8 42754180 42754180 single base substitution C T upstream_gene_variant SKCA-BR 8 42754256 42754256 single base substitution C T upstream_gene_variant SKCM-US 8 42725192 42725192 single base substitution G A exon_variant SKCM-US 8 42725192 42725192 single base substitution G A stop_gained Q9* 25C>T SKCM-US 8 42725192 42725192 single base substitution G A stop_gained Q93* 277C>T SKCM-US 8 42725192 42725192 single base substitution G A synonymous_variant T21T 63C>T STAD-US 8 42716936 42716936 single base substitution A G 3_prime_UTR_variant STAD-US 8 42716936 42716936 single base substitution A G downstream_gene_variant STAD-US 8 42716936 42716936 single base substitution A G exon_variant STAD-US 8 42716936 42716936 single base substitution A G intron_variant STAD-US 8 42716936 42716936 single base substitution A G synonymous_variant H153H 459T>C STAD-US 8 42716936 42716936 single base substitution A G synonymous_variant H57H 171T>C STAD-US 8 42716936 42716936 single base substitution A G synonymous_variant H69H 207T>C STAD-US 8 42716955 42716955 single base substitution T C 3_prime_UTR_variant STAD-US 8 42716955 42716955 single base substitution T C downstream_gene_variant STAD-US 8 42716955 42716955 single base substitution T C exon_variant STAD-US 8 42716955 42716955 single base substitution T C intron_variant STAD-US 8 42716955 42716955 single base substitution T C missense_variant Q147R 440A>G STAD-US 8 42716955 42716955 single base substitution T C missense_variant Q51R 152A>G STAD-US 8 42716955 42716955 single base substitution T C missense_variant Q63R 188A>G STAD-US 8 42725159 42725159 single base substitution G A exon_variant STAD-US 8 42725159 42725159 single base substitution G A missense_variant H104Y 310C>T STAD-US 8 42725159 42725159 single base substitution G A missense_variant H20Y 58C>T STAD-US 8 42725159 42725159 single base substitution G A synonymous_variant D32D 96C>T STAD-US 8 42742939 42742939 single base substitution G A 5_prime_UTR_variant STAD-US 8 42742939 42742939 single base substitution G A exon_variant STAD-US 8 42742939 42742939 single base substitution G A intron_variant STAD-US 8 42742939 42742939 single base substitution G A synonymous_variant S23S 69C>T THCA-SA 8 42704925 42704925 single base substitution T A 3_prime_UTR_variant THCA-SA 8 42704925 42704925 single base substitution T A downstream_gene_variant THCA-US 8 42716925 42716925 single base substitution T G 3_prime_UTR_variant THCA-US 8 42716925 42716925 single base substitution T G downstream_gene_variant THCA-US 8 42716925 42716925 single base substitution T G exon_variant THCA-US 8 42716925 42716925 single base substitution T G intron_variant THCA-US 8 42716925 42716925 single base substitution T G missense_variant N157T 470A>C THCA-US 8 42716925 42716925 single base substitution T G missense_variant N61T 182A>C THCA-US 8 42716925 42716925 single base substitution T G missense_variant N73T 218A>C UCEC-US 8 42711368 42711368 single base substitution G T 3_prime_UTR_variant UCEC-US 8 42711368 42711368 single base substitution G T intron_variant UCEC-US 8 42711368 42711368 single base substitution G T synonymous_variant I141I 423C>A UCEC-US 8 42711368 42711368 single base substitution G T synonymous_variant I153I 459C>A UCEC-US 8 42711368 42711368 single base substitution G T synonymous_variant I237I 711C>A UCEC-US 8 42711483 42711483 single base substitution C T 3_prime_UTR_variant UCEC-US 8 42711483 42711483 single base substitution C T downstream_gene_variant UCEC-US 8 42711483 42711483 single base substitution C T intron_variant UCEC-US 8 42711483 42711483 single base substitution C T missense_variant R103H 308G>A UCEC-US 8 42711483 42711483 single base substitution C T missense_variant R115H 344G>A UCEC-US 8 42711483 42711483 single base substitution C T missense_variant R199H 596G>A UCEC-US 8 42720613 42720613 single base substitution G A exon_variant UCEC-US 8 42720613 42720613 single base substitution G A intron_variant UCEC-US 8 42720613 42720613 single base substitution G A synonymous_variant Y114Y 342C>T UCEC-US 8 42720613 42720613 single base substitution G A synonymous_variant Y30Y 90C>T UCEC-US 8 42729097 42729097 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 8 42729097 42729097 single base substitution G A exon_variant UCEC-US 8 42729097 42729097 single base substitution G A stop_gained R64* 190C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 49T COSM1457193 c.745C>T p.R249* Substitution - Nonsense 8:42856191-42856191 - TCGA-B7-5816-01 COSM3900323 c.459T>C p.H153H Substitution - coding silent 8:42861793-42861793 - TCGA-HU-A4H3-01 COSM3900326 c.69C>T p.S23S Substitution - coding silent 8:42887796-42887796 - PD11399a COSM5779792 c.384C>G p.I128M Substitution - Missense 8:42865428-42865428 - 6115219 COSM5562099 c.300C>A p.T100T Substitution - coding silent 8:42870026-42870026 - TCGA-BR-7851-01 COSM3900324 c.310C>T p.H104Y Substitution - Missense 8:42870016-42870016 - ESCC_152 COSM5645529 c.103G>A p.A35T Substitution - Missense 8:42887762-42887762 - TCGA-E2-A14P-01 COSM454597 c.543G>A p.L181L Substitution - coding silent 8:42856393-42856393 - TCGA-18-3411-01 COSM750306 c.162A>G p.P54P Substitution - coding silent 8:42873982-42873982 - YUPROST COSM1700059 c.245A>G p.Y82C Substitution - Missense 8:42870081-42870081 - TCGA-BS-A0UF-01 COSM1100077 c.711C>A p.I237I Substitution - coding silent 8:42856225-42856225 - SNUH_G16_S1 COSM3982543 c.562A>G p.M188V Substitution - Missense 8:42856374-42856374 - TCGA-CA-6717-01 COSM1457194 c.102C>T p.F34F Substitution - coding silent 8:42887763-42887763 - RMS2030 COSM5880527 c.136A>T p.R46* Substitution - Nonsense 8:42887729-42887729 - PD7518a COSM4440729 c.501C>T p.P167P Substitution - coding silent 8:42861751-42861751 - TCGA-BR-A4QL-01 COSM2962056 c.440A>G p.Q147R Substitution - Missense 8:42861812-42861812 - TCGA-D1-A103-01 COSM1100079 c.342C>T p.Y114Y Substitution - coding silent 8:42865470-42865470 - ESO-1130 COSM1264364 c.191G>T p.R64L Substitution - Missense 8:42873953-42873953 - PT33 COSM5908877 c.347G>A p.R116Q Substitution - Missense 8:42865465-42865465 - PCSI_0083_Pa_X COSM3382258 c.395C>T p.T132M Substitution - Missense 8:42865417-42865417 - TCGA-DJ-A3UU-01 COSM3374934 c.470A>C p.N157T Substitution - Missense 8:42861782-42861782 - 10-P4110 COSM4588119 c.246C>T p.Y82Y Substitution - coding silent 8:42870080-42870080 - T3724 COSM4722048 c.544A>G p.R182G Substitution - Missense 8:42856392-42856392 - PT37 COSM5919637 c.214-4T>A p.? Unknown 8:42870116-42870116 - J65_T COSM1100080 c.190C>T p.R64* Substitution - Nonsense 8:42873954-42873954 - TCGA-CA-6717-01 COSM1457193 c.745C>T p.R249* Substitution - Nonsense 8:42856191-42856191 - HCC013T COSM5807489 c.93G>A p.V31V Substitution - coding silent 8:42887772-42887772 - T3024 COSM4722047 c.606A>G p.I202M Substitution - Missense 8:42856330-42856330 - B66 COSM1755731 c.257A>G p.Y86C Substitution - Missense 8:42870069-42870069 - H650 COSM1194784 c.292G>T p.V98L Substitution - Missense 8:42870034-42870034 - 8044951 COSM3395341 c.206C>T p.T69I Substitution - Missense 8:42873938-42873938 - TCGA-EE-A29E-06 COSM3649371 c.277C>T p.Q93* Substitution - Nonsense 8:42870049-42870049 - Pat_41_B COSM5874730 c.758C>T p.T253I Substitution - Missense 8:42856178-42856178 - HCC013T COSM5807555 c.94G>T p.V32F Substitution - Missense 8:42887771-42887771 - TCGA-BS-A0UF-01 COSM1100080 c.190C>T p.R64* Substitution - Nonsense 8:42873954-42873954 - TCGA-AP-A059-01 COSM1100078 c.596G>A p.R199H Substitution - Missense 8:42856340-42856340 - LUAD-NYU259 COSM372023 c.93G>T p.V31V Substitution - coding silent 8:42887772-42887772 - 587342 COSM1223941 c.743A>G p.Y248C Substitution - Missense 8:42856193-42856193 - B66-Tumor COSM1755731 c.257A>G p.Y86C Substitution - Missense 8:42870069-42870069 - OSCC-GB_00490111 COSM1457193 c.745C>T p.R249* Substitution - Nonsense 8:42856191-42856191 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.491626 8p11.21 614649

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.H153H c.459T>C 8 42716936 STAD A G Synonymous p.N157N c.471T>C 8 42716924 CM C A Missense p.R64L c.191G>T 8 42729096 ESCA C T Missense p.R61K c.182G>A 8 42729105 CM C T Synonymous p.L181L c.543G>A 8 42711536 BRCA G A Nonsense p.Q93* c.277C>T 8 42725192 CM G A Synonymous p.A76A c.228C>T 8 42725241 LUAD T C Synonymous p.P54P c.162A>G 8 42729125 LUSC T G Missense p.N157T c.470A>C 8 42716925 THCA