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 20 48732032 48732032 + 5'Flank SNP A A G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr20:48732032A>G KIPAN 20 48732051 48732051 + 5'Flank SNP C C G TCGA-CJ-4873-01A-01D-1373-10 TCGA-CJ-4873-11A-01D-1373-10 g.chr20:48732051C>G KIRC 20 48732051 48732051 + 5'Flank SNP C C G TCGA-CJ-4873-01A-01D-1373-10 TCGA-CJ-4873-11A-01D-1373-10 g.chr20:48732051C>G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 20 48699389 48699389 single base substitution G A 3_prime_UTR_variant BLCA-US 20 48699389 48699389 single base substitution G A downstream_gene_variant BLCA-US 20 48699389 48699389 single base substitution G A exon_variant BLCA-US 20 48699389 48699389 single base substitution G A synonymous_variant V120V 360C>T BLCA-US 20 48699389 48699389 single base substitution G A synonymous_variant V143V 429C>T BLCA-US 20 48699389 48699389 single base substitution G A synonymous_variant V76V 228C>T BLCA-US 20 48699389 48699389 single base substitution G A synonymous_variant V78V 234C>T BRCA-EU 20 48693617 48693617 single base substitution G A downstream_gene_variant BRCA-EU 20 48693697 48693697 single base substitution G A downstream_gene_variant BRCA-EU 20 48694614 48694614 single base substitution G A downstream_gene_variant BRCA-EU 20 48697499 48697499 single base substitution C G downstream_gene_variant BRCA-EU 20 48698550 48698550 single base substitution G A 3_prime_UTR_variant BRCA-EU 20 48698550 48698550 single base substitution G A downstream_gene_variant BRCA-EU 20 48698550 48698550 single base substitution G A exon_variant BRCA-EU 20 48698849 48698849 single base substitution C G 3_prime_UTR_variant BRCA-EU 20 48698849 48698849 single base substitution C G downstream_gene_variant BRCA-EU 20 48698849 48698849 single base substitution C G exon_variant BRCA-EU 20 48699776 48699776 single base substitution C T downstream_gene_variant BRCA-EU 20 48699776 48699776 single base substitution C T intron_variant BRCA-EU 20 48700543 48700543 single base substitution G A downstream_gene_variant BRCA-EU 20 48700543 48700543 single base substitution G A exon_variant BRCA-EU 20 48700543 48700543 single base substitution G A intron_variant BRCA-EU 20 48700975 48700975 single base substitution C T intron_variant BRCA-EU 20 48701751 48701751 single base substitution T C intron_variant BRCA-EU 20 48702553 48702553 single base substitution C T intron_variant BRCA-EU 20 48702662 48702662 single base substitution A T intron_variant BRCA-EU 20 48702962 48702962 single base substitution A G intron_variant BRCA-EU 20 48703826 48703826 insertion of <=200bp - G intron_variant BRCA-EU 20 48704798 48704798 single base substitution A T intron_variant BRCA-EU 20 48705509 48705509 single base substitution C T intron_variant BRCA-EU 20 48705727 48705727 deletion of <=200bp G - intron_variant BRCA-EU 20 48705856 48705856 deletion of <=200bp G - intron_variant BRCA-EU 20 48706943 48706943 deletion of <=200bp G - downstream_gene_variant BRCA-EU 20 48706943 48706943 deletion of <=200bp G - intron_variant BRCA-EU 20 48709079 48709079 single base substitution T A downstream_gene_variant BRCA-EU 20 48709079 48709079 single base substitution T A intron_variant BRCA-EU 20 48709345 48709345 single base substitution C T downstream_gene_variant BRCA-EU 20 48709345 48709345 single base substitution C T intron_variant BRCA-EU 20 48709989 48709989 single base substitution G C downstream_gene_variant BRCA-EU 20 48709989 48709989 single base substitution G C intron_variant BRCA-EU 20 48710820 48710836 deletion of <=200bp TATATAATATATAATTA - downstream_gene_variant BRCA-EU 20 48710820 48710836 deletion of <=200bp TATATAATATATAATTA - intron_variant BRCA-EU 20 48711121 48711121 single base substitution G C downstream_gene_variant BRCA-EU 20 48711121 48711121 single base substitution G C intron_variant BRCA-EU 20 48711682 48711682 single base substitution G A downstream_gene_variant BRCA-EU 20 48711682 48711682 single base substitution G A exon_variant BRCA-EU 20 48711682 48711682 single base substitution G A intron_variant BRCA-EU 20 48713084 48713084 single base substitution G T exon_variant BRCA-EU 20 48713084 48713084 single base substitution G T intron_variant BRCA-EU 20 48713634 48713634 single base substitution C G intron_variant BRCA-EU 20 48715072 48715072 single base substitution G C intron_variant BRCA-EU 20 48715181 48715181 single base substitution T C intron_variant BRCA-EU 20 48716480 48716480 single base substitution C A intron_variant BRCA-EU 20 48717123 48717123 single base substitution A C intron_variant BRCA-EU 20 48717322 48717322 single base substitution T C intron_variant BRCA-EU 20 48720233 48720233 single base substitution G A intron_variant BRCA-EU 20 48721095 48721095 single base substitution G A intron_variant BRCA-EU 20 48723426 48723426 single base substitution A C intron_variant BRCA-EU 20 48725990 48725990 single base substitution G C intron_variant BRCA-EU 20 48726605 48726605 single base substitution G A downstream_gene_variant BRCA-EU 20 48726605 48726605 single base substitution G A intron_variant BRCA-EU 20 48727712 48727712 single base substitution A T downstream_gene_variant BRCA-EU 20 48727712 48727712 single base substitution A T intron_variant BRCA-EU 20 48728057 48728057 single base substitution G A downstream_gene_variant BRCA-EU 20 48728057 48728057 single base substitution G A exon_variant BRCA-EU 20 48728057 48728057 single base substitution G A intron_variant BRCA-EU 20 48728818 48728818 single base substitution C A downstream_gene_variant BRCA-EU 20 48728818 48728818 single base substitution C A intron_variant BRCA-EU 20 48728818 48728818 single base substitution C A upstream_gene_variant BRCA-EU 20 48729120 48729120 single base substitution G A downstream_gene_variant BRCA-EU 20 48729120 48729120 single base substitution G A intron_variant BRCA-EU 20 48729120 48729120 single base substitution G A upstream_gene_variant BRCA-EU 20 48731672 48731672 single base substitution C A intron_variant BRCA-EU 20 48731672 48731672 single base substitution C A upstream_gene_variant BRCA-EU 20 48732594 48732594 insertion of <=200bp - C upstream_gene_variant BRCA-EU 20 48733411 48733411 single base substitution G A upstream_gene_variant BRCA-EU 20 48733927 48733927 single base substitution C T upstream_gene_variant BRCA-EU 20 48733984 48733984 single base substitution T G upstream_gene_variant BRCA-EU 20 48734026 48734026 single base substitution C T upstream_gene_variant BRCA-EU 20 48735155 48735155 deletion of <=200bp T - upstream_gene_variant BRCA-EU 20 48735554 48735554 single base substitution G C upstream_gene_variant BRCA-EU 20 48736624 48736624 single base substitution G A upstream_gene_variant BRCA-EU 20 48737490 48737490 single base substitution C T upstream_gene_variant BRCA-FR 20 48728818 48728818 single base substitution C A downstream_gene_variant BRCA-FR 20 48728818 48728818 single base substitution C A intron_variant BRCA-FR 20 48728818 48728818 single base substitution C A upstream_gene_variant BRCA-FR 20 48731672 48731672 single base substitution C A intron_variant BRCA-FR 20 48731672 48731672 single base substitution C A upstream_gene_variant BRCA-FR 20 48737235 48737235 single base substitution G A upstream_gene_variant BRCA-UK 20 48701751 48701751 single base substitution T C intron_variant BRCA-UK 20 48702962 48702962 single base substitution A G intron_variant BRCA-UK 20 48707230 48707230 single base substitution C T downstream_gene_variant BRCA-UK 20 48707230 48707230 single base substitution C T intron_variant BRCA-UK 20 48721460 48721460 single base substitution C T intron_variant BRCA-UK 20 48726605 48726605 single base substitution G A downstream_gene_variant BRCA-UK 20 48726605 48726605 single base substitution G A intron_variant BRCA-UK 20 48728476 48728476 single base substitution G A downstream_gene_variant BRCA-UK 20 48728476 48728476 single base substitution G A intron_variant BRCA-UK 20 48728476 48728476 single base substitution G A upstream_gene_variant BRCA-US 20 48699337 48699337 single base substitution G A 3_prime_UTR_variant BRCA-US 20 48699337 48699337 single base substitution G A downstream_gene_variant BRCA-US 20 48699337 48699337 single base substitution G A exon_variant BRCA-US 20 48699337 48699337 single base substitution G A stop_gained Q138* 412C>T BRCA-US 20 48699337 48699337 single base substitution G A stop_gained Q161* 481C>T BRCA-US 20 48699337 48699337 single base substitution G A stop_gained Q94* 280C>T BRCA-US 20 48699337 48699337 single base substitution G A stop_gained Q96* 286C>T BRCA-US 20 48700722 48700722 single base substitution A C 3_prime_UTR_variant BRCA-US 20 48700722 48700722 single base substitution A C exon_variant BRCA-US 20 48700722 48700722 single base substitution A C intron_variant BRCA-US 20 48700722 48700722 single base substitution A C missense_variant F104V 310T>G BRCA-US 20 48700722 48700722 single base substitution A C missense_variant F37V 109T>G BRCA-US 20 48700722 48700722 single base substitution A C missense_variant F81V 241T>G BTCA-JP 20 48700726 48700726 single base substitution G T 3_prime_UTR_variant BTCA-JP 20 48700726 48700726 single base substitution G T exon_variant BTCA-JP 20 48700726 48700726 single base substitution G T intron_variant BTCA-JP 20 48700726 48700726 single base substitution G T synonymous_variant P102P 306C>A BTCA-JP 20 48700726 48700726 single base substitution G T synonymous_variant P35P 105C>A BTCA-JP 20 48700726 48700726 single base substitution G T synonymous_variant P79P 237C>A BTCA-JP 20 48729711 48729711 single base substitution C T downstream_gene_variant BTCA-JP 20 48729711 48729711 single base substitution C T intron_variant BTCA-JP 20 48729711 48729711 single base substitution C T upstream_gene_variant BTCA-JP 20 48732154 48732154 single base substitution G A 5_prime_UTR_variant BTCA-JP 20 48732154 48732154 single base substitution G A exon_variant BTCA-JP 20 48732154 48732154 single base substitution G A upstream_gene_variant CLLE-ES 20 48693249 48693249 single base substitution C T downstream_gene_variant CLLE-ES 20 48706941 48706942 multiple base substitution (>=2bp and <=200bp) GC AA downstream_gene_variant CLLE-ES 20 48706941 48706942 multiple base substitution (>=2bp and <=200bp) GC AA intron_variant COCA-CN 20 48700975 48700975 single base substitution C T intron_variant COCA-CN 20 48701134 48701134 single base substitution C A intron_variant ESAD-UK 20 48693190 48693190 single base substitution C T downstream_gene_variant ESAD-UK 20 48694378 48694378 single base substitution G A downstream_gene_variant ESAD-UK 20 48696727 48696727 single base substitution T A downstream_gene_variant ESAD-UK 20 48698161 48698161 single base substitution G A 3_prime_UTR_variant ESAD-UK 20 48698161 48698161 single base substitution G A downstream_gene_variant ESAD-UK 20 48698161 48698161 single base substitution G A exon_variant ESAD-UK 20 48698735 48698735 single base substitution G A 3_prime_UTR_variant ESAD-UK 20 48698735 48698735 single base substitution G A downstream_gene_variant ESAD-UK 20 48698735 48698735 single base substitution G A exon_variant ESAD-UK 20 48704392 48704392 single base substitution C T intron_variant ESAD-UK 20 48705727 48705727 single base substitution G A intron_variant ESAD-UK 20 48709234 48709234 single base substitution G C downstream_gene_variant ESAD-UK 20 48709234 48709234 single base substitution G C intron_variant ESAD-UK 20 48710482 48710482 single base substitution G A downstream_gene_variant ESAD-UK 20 48710482 48710482 single base substitution G A intron_variant ESAD-UK 20 48712781 48712781 single base substitution G T exon_variant ESAD-UK 20 48712781 48712781 single base substitution G T intron_variant ESAD-UK 20 48714097 48714097 single base substitution G C intron_variant ESAD-UK 20 48716536 48716536 single base substitution G T intron_variant ESAD-UK 20 48716642 48716642 single base substitution A G intron_variant ESAD-UK 20 48716851 48716851 single base substitution G A intron_variant ESAD-UK 20 48717321 48717321 single base substitution A G intron_variant ESAD-UK 20 48718282 48718282 single base substitution T G intron_variant ESAD-UK 20 48718325 48718325 single base substitution C T intron_variant ESAD-UK 20 48718805 48718805 single base substitution C A intron_variant ESAD-UK 20 48719295 48719295 single base substitution G A intron_variant ESAD-UK 20 48719593 48719593 single base substitution G A intron_variant ESAD-UK 20 48719696 48719696 single base substitution G T intron_variant ESAD-UK 20 48720225 48720225 single base substitution C T intron_variant ESAD-UK 20 48723415 48723415 single base substitution A C intron_variant ESAD-UK 20 48726058 48726058 single base substitution C T intron_variant ESAD-UK 20 48726393 48726393 single base substitution T C intron_variant ESAD-UK 20 48729540 48729540 single base substitution G A downstream_gene_variant ESAD-UK 20 48729540 48729540 single base substitution G A intron_variant ESAD-UK 20 48729540 48729540 single base substitution G A upstream_gene_variant ESAD-UK 20 48731259 48731259 single base substitution G T downstream_gene_variant ESAD-UK 20 48731259 48731259 single base substitution G T intron_variant ESAD-UK 20 48731259 48731259 single base substitution G T upstream_gene_variant ESAD-UK 20 48732487 48732491 deletion of <=200bp TAGGC - 5_prime_UTR_variant ESAD-UK 20 48732487 48732491 deletion of <=200bp TAGGC - exon_variant ESAD-UK 20 48732487 48732491 deletion of <=200bp TAGGC - upstream_gene_variant ESAD-UK 20 48735162 48735162 single base substitution T G upstream_gene_variant ESAD-UK 20 48735855 48735855 single base substitution C T upstream_gene_variant ESAD-UK 20 48736485 48736485 single base substitution T C upstream_gene_variant ESCA-CN 20 48697884 48697884 deletion of <=200bp A - 3_prime_UTR_variant ESCA-CN 20 48697884 48697884 deletion of <=200bp A - downstream_gene_variant ESCA-CN 20 48697884 48697884 deletion of <=200bp A - exon_variant ESCA-CN 20 48699463 48699463 single base substitution C A downstream_gene_variant ESCA-CN 20 48699463 48699463 single base substitution C A intron_variant ESCA-CN 20 48729711 48729711 single base substitution C T downstream_gene_variant ESCA-CN 20 48729711 48729711 single base substitution C T intron_variant ESCA-CN 20 48729711 48729711 single base substitution C T upstream_gene_variant KIRC-US 20 48732051 48732051 single base substitution C G exon_variant KIRC-US 20 48732051 48732051 single base substitution C G missense_variant D4H 10G>C KIRC-US 20 48732051 48732051 single base substitution C G missense_variant R21T 62G>C KIRC-US 20 48732051 48732051 single base substitution C G upstream_gene_variant KIRP-US 20 48713266 48713266 single base substitution T C exon_variant KIRP-US 20 48713266 48713266 single base substitution T C intron_variant KIRP-US 20 48713266 48713266 single base substitution T C synonymous_variant E38E 114A>G KIRP-US 20 48713266 48713266 single base substitution T C synonymous_variant E61E 183A>G LAML-KR 20 48692924 48692924 single base substitution A C downstream_gene_variant LAML-KR 20 48695528 48695528 single base substitution T A downstream_gene_variant LGG-US 20 48700714 48700714 single base substitution T C 3_prime_UTR_variant LGG-US 20 48700714 48700714 single base substitution T C exon_variant LGG-US 20 48700714 48700714 single base substitution T C intron_variant LGG-US 20 48700714 48700714 single base substitution T C synonymous_variant R106R 318A>G LGG-US 20 48700714 48700714 single base substitution T C synonymous_variant R39R 117A>G LGG-US 20 48700714 48700714 single base substitution T C synonymous_variant R83R 249A>G LICA-FR 20 48695061 48695061 single base substitution C A downstream_gene_variant LICA-FR 20 48702361 48702361 single base substitution T C intron_variant LICA-FR 20 48720486 48720486 single base substitution T C intron_variant LICA-FR 20 48721219 48721219 single base substitution C A intron_variant LICA-FR 20 48721236 48721236 single base substitution A T intron_variant LICA-FR 20 48726285 48726285 deletion of <=200bp A - intron_variant LICA-FR 20 48730304 48730304 insertion of <=200bp - ATTC downstream_gene_variant LICA-FR 20 48730304 48730304 insertion of <=200bp - ATTC intron_variant LICA-FR 20 48730304 48730304 insertion of <=200bp - ATTC upstream_gene_variant LINC-JP 20 48694359 48694359 single base substitution G A downstream_gene_variant LINC-JP 20 48696767 48696767 deletion of <=200bp T - downstream_gene_variant LINC-JP 20 48710985 48710985 single base substitution T C downstream_gene_variant LINC-JP 20 48710985 48710985 single base substitution T C intron_variant LINC-JP 20 48722267 48722267 single base substitution G C intron_variant LINC-JP 20 48724278 48724278 single base substitution C G intron_variant LIRI-JP 20 48693845 48693845 single base substitution C T downstream_gene_variant LIRI-JP 20 48694679 48694679 single base substitution G T downstream_gene_variant LIRI-JP 20 48696678 48696679 deletion of <=200bp AT - downstream_gene_variant LIRI-JP 20 48696820 48696820 single base substitution T A downstream_gene_variant LIRI-JP 20 48696993 48696993 single base substitution T C downstream_gene_variant LIRI-JP 20 48701073 48701073 single base substitution T C intron_variant LIRI-JP 20 48707119 48707119 single base substitution T C downstream_gene_variant LIRI-JP 20 48707119 48707119 single base substitution T C intron_variant LIRI-JP 20 48709580 48709580 single base substitution A G downstream_gene_variant LIRI-JP 20 48709580 48709580 single base substitution A G intron_variant LIRI-JP 20 48710985 48710985 single base substitution T C downstream_gene_variant LIRI-JP 20 48710985 48710985 single base substitution T C intron_variant LIRI-JP 20 48712556 48712556 single base substitution G C downstream_gene_variant LIRI-JP 20 48712556 48712556 single base substitution G C exon_variant LIRI-JP 20 48712556 48712556 single base substitution G C intron_variant LIRI-JP 20 48713107 48713107 single base substitution T A exon_variant LIRI-JP 20 48713107 48713107 single base substitution T A intron_variant LIRI-JP 20 48714408 48714408 single base substitution T C intron_variant LIRI-JP 20 48715451 48715451 single base substitution T C exon_variant LIRI-JP 20 48715451 48715451 single base substitution T C intron_variant LIRI-JP 20 48715978 48715978 single base substitution C A intron_variant LIRI-JP 20 48716071 48716071 single base substitution C T intron_variant LIRI-JP 20 48716072 48716072 single base substitution C A intron_variant LIRI-JP 20 48720528 48720528 single base substitution T C intron_variant LIRI-JP 20 48720799 48720799 single base substitution T C intron_variant LIRI-JP 20 48720897 48720897 single base substitution T C intron_variant LIRI-JP 20 48722856 48722856 single base substitution C T intron_variant LIRI-JP 20 48723872 48723872 single base substitution G A intron_variant LIRI-JP 20 48724198 48724198 single base substitution T C intron_variant LIRI-JP 20 48725828 48725828 single base substitution T A intron_variant LIRI-JP 20 48726145 48726145 single base substitution G A intron_variant LIRI-JP 20 48728413 48728413 single base substitution T G downstream_gene_variant LIRI-JP 20 48728413 48728413 single base substitution T G intron_variant LIRI-JP 20 48728413 48728413 single base substitution T G upstream_gene_variant LIRI-JP 20 48734701 48734701 single base substitution G A upstream_gene_variant LUSC-KR 20 48693565 48693565 single base substitution G T downstream_gene_variant LUSC-KR 20 48695941 48695941 single base substitution G A downstream_gene_variant LUSC-KR 20 48702721 48702721 single base substitution C T intron_variant LUSC-KR 20 48706975 48706975 single base substitution C A downstream_gene_variant LUSC-KR 20 48706975 48706975 single base substitution C A intron_variant LUSC-KR 20 48711909 48711909 single base substitution C T downstream_gene_variant LUSC-KR 20 48711909 48711909 single base substitution C T exon_variant LUSC-KR 20 48711909 48711909 single base substitution C T intron_variant LUSC-KR 20 48713434 48713434 single base substitution T A intron_variant LUSC-KR 20 48713706 48713706 single base substitution G C intron_variant LUSC-KR 20 48719154 48719154 single base substitution C A intron_variant LUSC-KR 20 48720920 48720920 single base substitution C T intron_variant LUSC-KR 20 48729711 48729711 single base substitution C T downstream_gene_variant LUSC-KR 20 48729711 48729711 single base substitution C T intron_variant LUSC-KR 20 48729711 48729711 single base substitution C T upstream_gene_variant LUSC-KR 20 48730332 48730332 single base substitution G A downstream_gene_variant LUSC-KR 20 48730332 48730332 single base substitution G A intron_variant LUSC-KR 20 48730332 48730332 single base substitution G A upstream_gene_variant LUSC-KR 20 48730692 48730692 single base substitution G C downstream_gene_variant LUSC-KR 20 48730692 48730692 single base substitution G C intron_variant LUSC-KR 20 48730692 48730692 single base substitution G C upstream_gene_variant LUSC-KR 20 48737156 48737156 single base substitution G C upstream_gene_variant MALY-DE 20 48694225 48694225 single base substitution G A downstream_gene_variant MALY-DE 20 48696201 48696201 single base substitution A T downstream_gene_variant MALY-DE 20 48697092 48697092 single base substitution T A downstream_gene_variant MALY-DE 20 48697679 48697679 insertion of <=200bp - T 3_prime_UTR_variant MALY-DE 20 48697679 48697679 insertion of <=200bp - T downstream_gene_variant MALY-DE 20 48697679 48697679 insertion of <=200bp - T exon_variant MALY-DE 20 48711066 48711066 single base substitution A G downstream_gene_variant MALY-DE 20 48711066 48711066 single base substitution A G intron_variant MALY-DE 20 48711287 48711287 single base substitution G A downstream_gene_variant MALY-DE 20 48711287 48711287 single base substitution G A intron_variant MALY-DE 20 48711806 48711808 deletion of <=200bp GAA - downstream_gene_variant MALY-DE 20 48711806 48711808 deletion of <=200bp GAA - exon_variant MALY-DE 20 48711806 48711808 deletion of <=200bp GAA - intron_variant MALY-DE 20 48719632 48719632 single base substitution T G intron_variant MALY-DE 20 48733900 48733900 single base substitution G T upstream_gene_variant MELA-AU 20 48694801 48694801 single base substitution G A downstream_gene_variant MELA-AU 20 48695316 48695316 single base substitution G A downstream_gene_variant MELA-AU 20 48695737 48695737 single base substitution G A downstream_gene_variant MELA-AU 20 48695871 48695871 single base substitution A T downstream_gene_variant MELA-AU 20 48696717 48696717 single base substitution C A downstream_gene_variant MELA-AU 20 48697568 48697568 single base substitution G A downstream_gene_variant MELA-AU 20 48697812 48697812 single base substitution A T 3_prime_UTR_variant MELA-AU 20 48697812 48697812 single base substitution A T downstream_gene_variant MELA-AU 20 48697812 48697812 single base substitution A T exon_variant MELA-AU 20 48698580 48698580 single base substitution G A 3_prime_UTR_variant MELA-AU 20 48698580 48698580 single base substitution G A downstream_gene_variant MELA-AU 20 48698580 48698580 single base substitution G A exon_variant MELA-AU 20 48699277 48699277 single base substitution G A 3_prime_UTR_variant MELA-AU 20 48699277 48699277 single base substitution G A downstream_gene_variant MELA-AU 20 48699277 48699277 single base substitution G A exon_variant MELA-AU 20 48699408 48699408 single base substitution G A 3_prime_UTR_variant MELA-AU 20 48699408 48699408 single base substitution G A downstream_gene_variant MELA-AU 20 48699408 48699408 single base substitution G A exon_variant MELA-AU 20 48699408 48699408 single base substitution G A missense_variant S114L 341C>T MELA-AU 20 48699408 48699408 single base substitution G A missense_variant S137L 410C>T MELA-AU 20 48699408 48699408 single base substitution G A missense_variant S70L 209C>T MELA-AU 20 48699408 48699408 single base substitution G A missense_variant S72L 215C>T MELA-AU 20 48700361 48700361 single base substitution G A downstream_gene_variant MELA-AU 20 48700361 48700361 single base substitution G A exon_variant MELA-AU 20 48700361 48700361 single base substitution G A intron_variant MELA-AU 20 48701418 48701418 single base substitution G A intron_variant MELA-AU 20 48702380 48702381 deletion of <=200bp CA - intron_variant MELA-AU 20 48703165 48703165 single base substitution C T intron_variant MELA-AU 20 48703391 48703391 single base substitution G A intron_variant MELA-AU 20 48703664 48703664 single base substitution G A intron_variant MELA-AU 20 48705343 48705343 single base substitution G A intron_variant MELA-AU 20 48705696 48705696 single base substitution G A intron_variant MELA-AU 20 48705820 48705820 single base substitution G A intron_variant MELA-AU 20 48707372 48707372 single base substitution G A downstream_gene_variant MELA-AU 20 48707372 48707372 single base substitution G A intron_variant MELA-AU 20 48707687 48707687 single base substitution G A downstream_gene_variant MELA-AU 20 48707687 48707687 single base substitution G A intron_variant MELA-AU 20 48707863 48707863 single base substitution G C downstream_gene_variant MELA-AU 20 48707863 48707863 single base substitution G C intron_variant MELA-AU 20 48708786 48708786 single base substitution G A downstream_gene_variant MELA-AU 20 48708786 48708786 single base substitution G A intron_variant MELA-AU 20 48708948 48708949 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 48708948 48708949 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 48708958 48708958 single base substitution G A downstream_gene_variant MELA-AU 20 48708958 48708958 single base substitution G A intron_variant MELA-AU 20 48710451 48710451 single base substitution G A downstream_gene_variant MELA-AU 20 48710451 48710451 single base substitution G A intron_variant MELA-AU 20 48710788 48710788 single base substitution A T downstream_gene_variant MELA-AU 20 48710788 48710788 single base substitution A T intron_variant MELA-AU 20 48711378 48711378 single base substitution G A downstream_gene_variant MELA-AU 20 48711378 48711378 single base substitution G A intron_variant MELA-AU 20 48711742 48711742 single base substitution G A downstream_gene_variant MELA-AU 20 48711742 48711742 single base substitution G A exon_variant MELA-AU 20 48711742 48711742 single base substitution G A intron_variant MELA-AU 20 48711866 48711866 single base substitution G A downstream_gene_variant MELA-AU 20 48711866 48711866 single base substitution G A exon_variant MELA-AU 20 48711866 48711866 single base substitution G A intron_variant MELA-AU 20 48712363 48712363 single base substitution G A downstream_gene_variant MELA-AU 20 48712363 48712363 single base substitution G A exon_variant MELA-AU 20 48712363 48712363 single base substitution G A intron_variant MELA-AU 20 48712436 48712436 single base substitution G A downstream_gene_variant MELA-AU 20 48712436 48712436 single base substitution G A exon_variant MELA-AU 20 48712436 48712436 single base substitution G A intron_variant MELA-AU 20 48712704 48712705 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 20 48712704 48712705 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 48713204 48713204 single base substitution C A exon_variant MELA-AU 20 48713204 48713204 single base substitution C A intron_variant MELA-AU 20 48713204 48713204 single base substitution C A splice_region_variant MELA-AU 20 48713445 48713445 single base substitution G A intron_variant MELA-AU 20 48713809 48713809 single base substitution G A intron_variant MELA-AU 20 48714088 48714088 single base substitution G A intron_variant MELA-AU 20 48714250 48714250 insertion of <=200bp - A intron_variant MELA-AU 20 48715233 48715233 single base substitution C A intron_variant MELA-AU 20 48716331 48716331 single base substitution G A intron_variant MELA-AU 20 48716541 48716542 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 48717676 48717676 single base substitution G A intron_variant MELA-AU 20 48718090 48718090 single base substitution G A intron_variant MELA-AU 20 48718465 48718465 single base substitution G A intron_variant MELA-AU 20 48718531 48718532 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 48719041 48719041 single base substitution G A intron_variant MELA-AU 20 48719232 48719232 single base substitution G A intron_variant MELA-AU 20 48719814 48719814 single base substitution C T intron_variant MELA-AU 20 48720370 48720370 single base substitution C T intron_variant MELA-AU 20 48720961 48720961 single base substitution G A intron_variant MELA-AU 20 48721104 48721104 single base substitution G A intron_variant MELA-AU 20 48722511 48722511 single base substitution G A intron_variant MELA-AU 20 48722653 48722653 single base substitution A C intron_variant MELA-AU 20 48723000 48723000 single base substitution A G intron_variant MELA-AU 20 48723196 48723196 single base substitution C T intron_variant MELA-AU 20 48723517 48723517 single base substitution G A intron_variant MELA-AU 20 48723519 48723519 single base substitution G A intron_variant MELA-AU 20 48724041 48724041 single base substitution G A intron_variant MELA-AU 20 48724601 48724601 single base substitution G A intron_variant MELA-AU 20 48724827 48724827 single base substitution G A intron_variant MELA-AU 20 48725121 48725121 single base substitution G A intron_variant MELA-AU 20 48725315 48725315 single base substitution A C intron_variant MELA-AU 20 48725868 48725868 single base substitution G A intron_variant MELA-AU 20 48726165 48726165 single base substitution G A intron_variant MELA-AU 20 48728869 48728870 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 48728869 48728870 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 48728869 48728870 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 48730320 48730320 single base substitution A G downstream_gene_variant MELA-AU 20 48730320 48730320 single base substitution A G intron_variant MELA-AU 20 48730320 48730320 single base substitution A G upstream_gene_variant MELA-AU 20 48731724 48731724 single base substitution G A intron_variant MELA-AU 20 48731724 48731724 single base substitution G A upstream_gene_variant MELA-AU 20 48732474 48732474 single base substitution C T 5_prime_UTR_variant MELA-AU 20 48732474 48732474 single base substitution C T exon_variant MELA-AU 20 48732474 48732474 single base substitution C T upstream_gene_variant MELA-AU 20 48732482 48732482 single base substitution G A 5_prime_UTR_variant MELA-AU 20 48732482 48732482 single base substitution G A exon_variant MELA-AU 20 48732482 48732482 single base substitution G A upstream_gene_variant MELA-AU 20 48732636 48732636 single base substitution C T upstream_gene_variant MELA-AU 20 48732826 48732826 single base substitution C T upstream_gene_variant MELA-AU 20 48733220 48733220 single base substitution G A upstream_gene_variant MELA-AU 20 48733825 48733825 single base substitution G A upstream_gene_variant MELA-AU 20 48734178 48734178 single base substitution G A upstream_gene_variant MELA-AU 20 48734354 48734354 single base substitution G A upstream_gene_variant MELA-AU 20 48734680 48734680 single base substitution G A upstream_gene_variant MELA-AU 20 48735299 48735299 single base substitution G A upstream_gene_variant MELA-AU 20 48735615 48735615 single base substitution G A upstream_gene_variant MELA-AU 20 48736298 48736298 single base substitution A G upstream_gene_variant MELA-AU 20 48737190 48737191 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 48737200 48737200 single base substitution C T upstream_gene_variant MELA-AU 20 48737379 48737379 single base substitution G A upstream_gene_variant ORCA-IN 20 48697175 48697175 single base substitution C G downstream_gene_variant ORCA-IN 20 48716952 48716952 single base substitution G A intron_variant ORCA-IN 20 48728267 48728267 single base substitution G C downstream_gene_variant ORCA-IN 20 48728267 48728267 single base substitution G C intron_variant ORCA-IN 20 48728267 48728267 single base substitution G C upstream_gene_variant OV-AU 20 48696577 48696577 single base substitution T A downstream_gene_variant OV-AU 20 48696927 48696927 single base substitution G C downstream_gene_variant OV-AU 20 48698478 48698478 single base substitution C T 3_prime_UTR_variant OV-AU 20 48698478 48698478 single base substitution C T downstream_gene_variant OV-AU 20 48698478 48698478 single base substitution C T exon_variant OV-AU 20 48705159 48705159 single base substitution C A intron_variant OV-AU 20 48707381 48707381 single base substitution G C downstream_gene_variant OV-AU 20 48707381 48707381 single base substitution G C intron_variant OV-AU 20 48710177 48710177 single base substitution C A downstream_gene_variant OV-AU 20 48710177 48710177 single base substitution C A intron_variant OV-AU 20 48717774 48717774 single base substitution T G intron_variant OV-AU 20 48718496 48718496 single base substitution C G intron_variant OV-AU 20 48727855 48727855 single base substitution G C downstream_gene_variant OV-AU 20 48727855 48727855 single base substitution G C exon_variant OV-AU 20 48727855 48727855 single base substitution G C intron_variant OV-AU 20 48735187 48735187 single base substitution C T upstream_gene_variant OV-AU 20 48736225 48736225 single base substitution G C upstream_gene_variant PACA-AU 20 48695021 48695024 deletion of <=200bp AGAG - downstream_gene_variant PACA-AU 20 48701356 48701356 single base substitution T A intron_variant PACA-AU 20 48704257 48704257 single base substitution C T intron_variant PACA-AU 20 48705452 48705452 single base substitution G C intron_variant PACA-AU 20 48710254 48710254 single base substitution C T downstream_gene_variant PACA-AU 20 48710254 48710254 single base substitution C T intron_variant PACA-AU 20 48715782 48715782 single base substitution T G intron_variant PACA-AU 20 48724337 48724337 single base substitution C G intron_variant PACA-AU 20 48726886 48726886 single base substitution A T downstream_gene_variant PACA-AU 20 48726886 48726886 single base substitution A T intron_variant PACA-AU 20 48731463 48731463 single base substitution C T downstream_gene_variant PACA-AU 20 48731463 48731463 single base substitution C T intron_variant PACA-AU 20 48731463 48731463 single base substitution C T upstream_gene_variant PACA-AU 20 48732930 48732942 deletion of <=200bp CAGTTTTGGAATC - upstream_gene_variant PACA-AU 20 48734245 48734245 single base substitution T C upstream_gene_variant PACA-AU 20 48736620 48736620 single base substitution T C upstream_gene_variant PACA-CA 20 48696477 48696477 single base substitution G C downstream_gene_variant PACA-CA 20 48698019 48698019 single base substitution C T 3_prime_UTR_variant PACA-CA 20 48698019 48698019 single base substitution C T downstream_gene_variant PACA-CA 20 48698019 48698019 single base substitution C T exon_variant PACA-CA 20 48698735 48698735 single base substitution G A 3_prime_UTR_variant PACA-CA 20 48698735 48698735 single base substitution G A downstream_gene_variant PACA-CA 20 48698735 48698735 single base substitution G A exon_variant PACA-CA 20 48703734 48703734 single base substitution A G intron_variant PACA-CA 20 48710797 48710799 deletion of <=200bp GCA - downstream_gene_variant PACA-CA 20 48710797 48710799 deletion of <=200bp GCA - intron_variant PACA-CA 20 48716833 48716833 single base substitution A G intron_variant PACA-CA 20 48717255 48717255 insertion of <=200bp - A intron_variant PACA-CA 20 48717301 48717315 deletion of <=200bp GGACTATTTATAGTA - intron_variant PACA-CA 20 48721555 48721555 single base substitution C G intron_variant PACA-CA 20 48721614 48721614 single base substitution T A intron_variant PACA-CA 20 48723833 48723833 single base substitution C T intron_variant PACA-CA 20 48724203 48724203 single base substitution A G intron_variant PACA-CA 20 48725433 48725433 single base substitution A G intron_variant PACA-CA 20 48726163 48726179 deletion of <=200bp GTGATCCCAGCTACTCA - intron_variant PACA-CA 20 48732639 48732639 single base substitution C T upstream_gene_variant PACA-CA 20 48732653 48732653 single base substitution T C upstream_gene_variant PACA-CA 20 48736362 48736362 single base substitution G C upstream_gene_variant PACA-CA 20 48736540 48736540 single base substitution C T upstream_gene_variant PAEN-AU 20 48707955 48707955 single base substitution T C downstream_gene_variant PAEN-AU 20 48707955 48707955 single base substitution T C intron_variant PAEN-IT 20 48696174 48696174 single base substitution G A downstream_gene_variant PAEN-IT 20 48721979 48721979 single base substitution A C intron_variant PBCA-DE 20 48692803 48692803 insertion of <=200bp - T downstream_gene_variant PBCA-DE 20 48710787 48710787 single base substitution A G downstream_gene_variant PBCA-DE 20 48710787 48710787 single base substitution A G intron_variant PBCA-DE 20 48715156 48715156 single base substitution C A intron_variant PBCA-DE 20 48719739 48719739 single base substitution G A intron_variant PBCA-DE 20 48723236 48723236 single base substitution G A intron_variant PBCA-DE 20 48735165 48735165 insertion of <=200bp - T upstream_gene_variant PBCA-DE 20 48735327 48735327 insertion of <=200bp - T upstream_gene_variant PBCA-DE 20 48737018 48737018 insertion of <=200bp - TA upstream_gene_variant PRAD-CA 20 48723091 48723091 single base substitution G A intron_variant PRAD-CA 20 48730320 48730320 single base substitution A G downstream_gene_variant PRAD-CA 20 48730320 48730320 single base substitution A G intron_variant PRAD-CA 20 48730320 48730320 single base substitution A G upstream_gene_variant PRAD-UK 20 48692768 48692768 single base substitution C T downstream_gene_variant PRAD-UK 20 48695553 48695553 single base substitution C T downstream_gene_variant PRAD-UK 20 48733180 48733180 single base substitution A T upstream_gene_variant PRAD-US 20 48699408 48699408 single base substitution G A 3_prime_UTR_variant PRAD-US 20 48699408 48699408 single base substitution G A downstream_gene_variant PRAD-US 20 48699408 48699408 single base substitution G A exon_variant PRAD-US 20 48699408 48699408 single base substitution G A missense_variant S114L 341C>T PRAD-US 20 48699408 48699408 single base substitution G A missense_variant S137L 410C>T PRAD-US 20 48699408 48699408 single base substitution G A missense_variant S70L 209C>T PRAD-US 20 48699408 48699408 single base substitution G A missense_variant S72L 215C>T PRAD-US 20 48713342 48713342 single base substitution C A exon_variant PRAD-US 20 48713342 48713342 single base substitution C A intron_variant PRAD-US 20 48713342 48713342 single base substitution C A missense_variant R13L 38G>T PRAD-US 20 48713342 48713342 single base substitution C A missense_variant R36L 107G>T RECA-EU 20 48700097 48700097 single base substitution C T downstream_gene_variant RECA-EU 20 48700097 48700097 single base substitution C T intron_variant RECA-EU 20 48702288 48702288 single base substitution C G intron_variant RECA-EU 20 48707149 48707149 single base substitution A C downstream_gene_variant RECA-EU 20 48707149 48707149 single base substitution A C intron_variant RECA-EU 20 48707150 48707150 single base substitution C T downstream_gene_variant RECA-EU 20 48707150 48707150 single base substitution C T intron_variant RECA-EU 20 48719141 48719141 single base substitution C T intron_variant RECA-EU 20 48730878 48730878 single base substitution C T downstream_gene_variant RECA-EU 20 48730878 48730878 single base substitution C T intron_variant RECA-EU 20 48730878 48730878 single base substitution C T upstream_gene_variant SKCA-BR 20 48693444 48693444 single base substitution G A downstream_gene_variant SKCA-BR 20 48695304 48695304 single base substitution G A downstream_gene_variant SKCA-BR 20 48695912 48695912 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 20 48697050 48697050 single base substitution T G downstream_gene_variant SKCA-BR 20 48698539 48698539 single base substitution G A 3_prime_UTR_variant SKCA-BR 20 48698539 48698539 single base substitution G A downstream_gene_variant SKCA-BR 20 48698539 48698539 single base substitution G A exon_variant SKCA-BR 20 48699374 48699374 single base substitution C T 3_prime_UTR_variant SKCA-BR 20 48699374 48699374 single base substitution C T downstream_gene_variant SKCA-BR 20 48699374 48699374 single base substitution C T exon_variant SKCA-BR 20 48699374 48699374 single base substitution C T synonymous_variant R125R 375G>A SKCA-BR 20 48699374 48699374 single base substitution C T synonymous_variant R148R 444G>A SKCA-BR 20 48699374 48699374 single base substitution C T synonymous_variant R81R 243G>A SKCA-BR 20 48699374 48699374 single base substitution C T synonymous_variant R83R 249G>A SKCA-BR 20 48701418 48701418 single base substitution G A intron_variant SKCA-BR 20 48703235 48703235 single base substitution G A intron_variant SKCA-BR 20 48706259 48706259 single base substitution C T intron_variant SKCA-BR 20 48707010 48707010 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 20 48707010 48707010 insertion of <=200bp - CA intron_variant SKCA-BR 20 48707947 48707947 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 20 48707947 48707947 insertion of <=200bp - CT intron_variant SKCA-BR 20 48710568 48710568 single base substitution T A downstream_gene_variant SKCA-BR 20 48710568 48710568 single base substitution T A intron_variant SKCA-BR 20 48721192 48721192 single base substitution C A intron_variant SKCA-BR 20 48721595 48721595 single base substitution G A intron_variant SKCA-BR 20 48723806 48723806 single base substitution C T intron_variant SKCA-BR 20 48725248 48725248 single base substitution T A intron_variant SKCA-BR 20 48725261 48725261 single base substitution C A intron_variant SKCA-BR 20 48726535 48726535 single base substitution T C downstream_gene_variant SKCA-BR 20 48726535 48726535 single base substitution T C intron_variant SKCA-BR 20 48729803 48729803 single base substitution C A downstream_gene_variant SKCA-BR 20 48729803 48729803 single base substitution C A intron_variant SKCA-BR 20 48729803 48729803 single base substitution C A upstream_gene_variant SKCA-BR 20 48730558 48730558 single base substitution C T downstream_gene_variant SKCA-BR 20 48730558 48730558 single base substitution C T intron_variant SKCA-BR 20 48730558 48730558 single base substitution C T upstream_gene_variant SKCA-BR 20 48732233 48732233 single base substitution T A 5_prime_UTR_variant SKCA-BR 20 48732233 48732233 single base substitution T A exon_variant SKCA-BR 20 48732233 48732233 single base substitution T A intron_variant SKCA-BR 20 48732233 48732233 single base substitution T A upstream_gene_variant SKCA-BR 20 48732482 48732482 single base substitution G A 5_prime_UTR_variant SKCA-BR 20 48732482 48732482 single base substitution G A exon_variant SKCA-BR 20 48732482 48732482 single base substitution G A upstream_gene_variant SKCA-BR 20 48733318 48733318 single base substitution T C upstream_gene_variant SKCA-BR 20 48734011 48734011 single base substitution A C upstream_gene_variant SKCA-BR 20 48734361 48734361 single base substitution C T upstream_gene_variant SKCA-BR 20 48735994 48735994 single base substitution T G upstream_gene_variant SKCM-US 20 48699376 48699376 single base substitution G A 3_prime_UTR_variant SKCM-US 20 48699376 48699376 single base substitution G A downstream_gene_variant SKCM-US 20 48699376 48699376 single base substitution G A exon_variant SKCM-US 20 48699376 48699376 single base substitution G A missense_variant R125W 373C>T SKCM-US 20 48699376 48699376 single base substitution G A missense_variant R148W 442C>T SKCM-US 20 48699376 48699376 single base substitution G A missense_variant R81W 241C>T SKCM-US 20 48699376 48699376 single base substitution G A missense_variant R83W 247C>T SKCM-US 20 48699408 48699408 single base substitution G A 3_prime_UTR_variant SKCM-US 20 48699408 48699408 single base substitution G A downstream_gene_variant SKCM-US 20 48699408 48699408 single base substitution G A exon_variant SKCM-US 20 48699408 48699408 single base substitution G A missense_variant S114L 341C>T SKCM-US 20 48699408 48699408 single base substitution G A missense_variant S137L 410C>T SKCM-US 20 48699408 48699408 single base substitution G A missense_variant S70L 209C>T SKCM-US 20 48699408 48699408 single base substitution G A missense_variant S72L 215C>T SKCM-US 20 48700666 48700666 single base substitution C T downstream_gene_variant SKCM-US 20 48700666 48700666 single base substitution C T exon_variant SKCM-US 20 48700666 48700666 single base substitution C T intron_variant SKCM-US 20 48700666 48700666 single base substitution C T splice_region_variant STAD-US 20 48713282 48713282 single base substitution A G exon_variant STAD-US 20 48713282 48713282 single base substitution A G intron_variant STAD-US 20 48713282 48713282 single base substitution A G missense_variant V33A 98T>C STAD-US 20 48713282 48713282 single base substitution A G missense_variant V56A 167T>C UCEC-US 20 48700776 48700776 single base substitution G A 3_prime_UTR_variant UCEC-US 20 48700776 48700776 single base substitution G A exon_variant UCEC-US 20 48700776 48700776 single base substitution G A intron_variant UCEC-US 20 48700776 48700776 single base substitution G A stop_gained R19* 55C>T UCEC-US 20 48700776 48700776 single base substitution G A stop_gained R63* 187C>T UCEC-US 20 48700776 48700776 single base substitution G A stop_gained R86* 256C>T UCEC-US 20 48713259 48713259 single base substitution C T exon_variant UCEC-US 20 48713259 48713259 single base substitution C T intron_variant UCEC-US 20 48713259 48713259 single base substitution C T missense_variant E41K 121G>A UCEC-US 20 48713259 48713259 single base substitution C T missense_variant E64K 190G>A UCEC-US 20 48713345 48713345 single base substitution G T exon_variant UCEC-US 20 48713345 48713345 single base substitution G T intron_variant UCEC-US 20 48713345 48713345 single base substitution G T missense_variant P12H 35C>A UCEC-US 20 48713345 48713345 single base substitution G T missense_variant P35H 104C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A053-01 COSM1027922 c.104C>A p.P35H Substitution - Missense 20:50096808-50096808 - TCGA-AA-3821-01 COSM294895 c.488C>T p.P163L Substitution - Missense 20:50082793-50082793 - TCGA-HC-7078-01 COSM1471455 c.410C>T p.S137L Substitution - Missense 20:50082871-50082871 - T2269 COSM4734396 c.107G>A p.R36H Substitution - Missense 20:50096805-50096805 - TCGA-D3-A2JL-06 COSM1471455 c.410C>T p.S137L Substitution - Missense 20:50082871-50082871 - SNUH_G45_S1 COSM4001937 c.462A>G p.K154K Substitution - coding silent 20:50082819-50082819 - TCGA-EE-A3JH-06 COSM3547616 c.366G>A p.V122V Substitution - coding silent 20:50084129-50084129 - S00472 COSM315990 c.161G>A p.G54D Substitution - Missense 20:50096751-50096751 - S02209 COSM5675311 c.91+1G>A p.? Unknown 20:50115484-50115484 - TCGA-AA-A010-01 COSM285794 c.190G>A p.E64K Substitution - Missense 20:50096722-50096722 - LUAD-5V8LT COSM402214 c.472A>G p.K158E Substitution - Missense 20:50082809-50082809 - CSCC-38-T COSM4510336 c.233C>T p.P78L Substitution - Missense 20:50096679-50096679 - TCGA-A7-A0DB-01 COSM444017 c.310T>G p.F104V Substitution - Missense 20:50084185-50084185 - TCGA-HT-7467-01 COSM3972599 c.318A>G p.R106R Substitution - coding silent 20:50084177-50084177 - TCGA-AA-3492-01 COSM1412413 c.470T>C p.M157T Substitution - Missense 20:50082811-50082811 - TCGA-HC-7230-01 COSM3673133 c.107G>T p.R36L Substitution - Missense 20:50096805-50096805 - TCGA-D3-A5GN-06 COSM2762466 c.442C>T p.R148W Substitution - Missense 20:50082839-50082839 - 509T COSM4381925 c.436G>T p.E146* Substitution - Nonsense 20:50082845-50082845 - TCGA-AP-A0LP-01 COSM1027920 c.256C>T p.R86* Substitution - Nonsense 20:50084239-50084239 - TCGA-AX-A05Z-01 COSM285794 c.190G>A p.E64K Substitution - Missense 20:50096722-50096722 - TCGA-CA-6718-01 COSM5145047 c.113T>C p.F38S Substitution - Missense 20:50096799-50096799 - Pat_28_B COSM5858100 c.104C>T p.P35L Substitution - Missense 20:50096808-50096808 - 9113_T COSM3673133 c.107G>T p.R36L Substitution - Missense 20:50096805-50096805 - TCGA-DK-A3X1-01 COSM3799651 c.429C>T p.V143V Substitution - coding silent 20:50082852-50082852 - TCGA-CJ-4873-01 COSM3363304 c.62G>C p.R21T Substitution - Missense 20:50115514-50115514 - TCGA-BR-8487-01 COSM4099321 c.167T>C p.V56A Substitution - Missense 20:50096745-50096745 - TCGA-E2-A152-01 COSM444013 c.481C>T p.Q161* Substitution - Nonsense 20:50082800-50082800 - ESCC_60 COSM5632745 c.350A>G p.N117S Substitution - Missense 20:50084145-50084145 - TCGA-G7-6790-01 COSM3991772 c.183A>G p.E61E Substitution - coding silent 20:50096729-50096729 - S00472 COSM315990 c.161G>A p.G54D Substitution - Missense 20:50096751-50096751 - ESCC_4 COSM5622887 c.26A>G p.Y9C Substitution - Missense 20:50115550-50115550 - BD114T COSM5504684 c.306C>A p.P102P Substitution - coding silent 20:50084189-50084189 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.420529 20q13.2 602995 2396379|CGAP|BC000468|A/C|non-coding||1735|Candidate; 1523630|dbSNP|BC000468|C/T|non-coding||975|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F104V c.310T>G 20 48700722 BRCA C A Missense p.R36L c.107G>T 20 48713342 PRAD C G Missense p.R21T c.62G>C 20 48732051 RCCC C T Missense p.G54D c.161G>A 20 48713288 SCLC C T Missense p.G73R c.217G>A 20 48713232 HNSC G A Missense p.S137L c.410C>T 20 48699408 CM G A Missense p.S137L c.410C>T 20 48699408 PRAD G A Nonsense p.Q161* c.481C>T 20 48699337 BRCA G A Nonsense p.R86* c.256C>T 20 48700776 UCEC G T Missense p.H28N c.82C>A 20 48732031 STAD G T Missense p.P103T c.307C>A 20 48700725 STAD G T Missense p.P35H c.104C>A 20 48713345 UCEC