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 6 30140063 30140063 single base substitution C T downstream_gene_variant BLCA-CN 6 30140063 30140063 single base substitution C T intron_variant BLCA-CN 6 30140063 30140063 single base substitution C T synonymous_variant S445S 1335C>T BLCA-US 6 30126201 30126201 single base substitution T C upstream_gene_variant BLCA-US 6 30128418 30128418 single base substitution C T upstream_gene_variant BLCA-US 6 30131831 30131831 single base substitution C T intron_variant BLCA-US 6 30131831 30131831 single base substitution C T stop_gained Q124* 370C>T BLCA-US 6 30131831 30131831 single base substitution C T upstream_gene_variant BLCA-US 6 30139765 30139765 single base substitution C G downstream_gene_variant BLCA-US 6 30139765 30139765 single base substitution C G intron_variant BLCA-US 6 30139765 30139765 single base substitution C G missense_variant S346C 1037C>G BRCA-EU 6 30127193 30127193 single base substitution C A upstream_gene_variant BRCA-EU 6 30127293 30127293 single base substitution C G upstream_gene_variant BRCA-EU 6 30128386 30128386 deletion of <=200bp G - upstream_gene_variant BRCA-EU 6 30129751 30129751 single base substitution C A upstream_gene_variant BRCA-EU 6 30129804 30129804 single base substitution G C upstream_gene_variant BRCA-EU 6 30130461 30130461 single base substitution G A upstream_gene_variant BRCA-EU 6 30131727 30131727 single base substitution A G missense_variant K89R 266A>G BRCA-EU 6 30131727 30131727 single base substitution A G upstream_gene_variant BRCA-EU 6 30131812 30131812 single base substitution G T intron_variant BRCA-EU 6 30131812 30131812 single base substitution G T synonymous_variant G117G 351G>T BRCA-EU 6 30131812 30131812 single base substitution G T upstream_gene_variant BRCA-EU 6 30131841 30131841 single base substitution G A intron_variant BRCA-EU 6 30131841 30131841 single base substitution G A missense_variant R127Q 380G>A BRCA-EU 6 30131841 30131841 single base substitution G A upstream_gene_variant BRCA-EU 6 30132829 30132829 single base substitution C A intron_variant BRCA-EU 6 30132829 30132829 single base substitution C A upstream_gene_variant BRCA-EU 6 30133375 30133375 single base substitution A G intron_variant BRCA-EU 6 30133375 30133375 single base substitution A G upstream_gene_variant BRCA-EU 6 30134074 30134074 single base substitution G A intron_variant BRCA-EU 6 30134074 30134074 single base substitution G A upstream_gene_variant BRCA-EU 6 30134114 30134114 single base substitution C T intron_variant BRCA-EU 6 30134114 30134114 single base substitution C T upstream_gene_variant BRCA-EU 6 30134487 30134487 single base substitution A C intron_variant BRCA-EU 6 30134487 30134487 single base substitution A C upstream_gene_variant BRCA-EU 6 30135499 30135499 single base substitution G C intron_variant BRCA-EU 6 30135499 30135499 single base substitution G C upstream_gene_variant BRCA-EU 6 30136037 30136037 single base substitution G A intron_variant BRCA-EU 6 30136037 30136037 single base substitution G A upstream_gene_variant BRCA-EU 6 30139816 30139816 single base substitution G T downstream_gene_variant BRCA-EU 6 30139816 30139816 single base substitution G T intron_variant BRCA-EU 6 30139816 30139816 single base substitution G T missense_variant C363F 1088G>T BRCA-EU 6 30140206 30140206 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 6 30140206 30140206 deletion of <=200bp G - downstream_gene_variant BRCA-EU 6 30140206 30140206 deletion of <=200bp G - intron_variant BRCA-EU 6 30140229 30140229 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 30140229 30140229 single base substitution G A downstream_gene_variant BRCA-EU 6 30140229 30140229 single base substitution G A intron_variant BRCA-EU 6 30140377 30140377 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 30140377 30140377 single base substitution G A downstream_gene_variant BRCA-EU 6 30140377 30140377 single base substitution G A missense_variant C114Y 341G>A BRCA-EU 6 30141110 30141110 single base substitution C T downstream_gene_variant BRCA-EU 6 30141457 30141457 single base substitution A T downstream_gene_variant BRCA-EU 6 30142540 30142540 single base substitution C G downstream_gene_variant BRCA-EU 6 30142686 30142686 single base substitution C T downstream_gene_variant BRCA-EU 6 30142795 30142795 single base substitution A G downstream_gene_variant BRCA-EU 6 30143780 30143780 single base substitution C G downstream_gene_variant BRCA-EU 6 30144218 30144218 single base substitution G T downstream_gene_variant BRCA-EU 6 30144488 30144488 deletion of <=200bp G - downstream_gene_variant BRCA-EU 6 30144488 30144488 insertion of <=200bp - G downstream_gene_variant BRCA-EU 6 30145419 30145419 single base substitution G A downstream_gene_variant BRCA-FR 6 30127293 30127293 single base substitution C G upstream_gene_variant BRCA-FR 6 30131727 30131727 single base substitution A G missense_variant K89R 266A>G BRCA-FR 6 30131727 30131727 single base substitution A G upstream_gene_variant BRCA-FR 6 30132829 30132829 single base substitution C A intron_variant BRCA-FR 6 30132829 30132829 single base substitution C A upstream_gene_variant BRCA-FR 6 30134074 30134074 single base substitution G A intron_variant BRCA-FR 6 30134074 30134074 single base substitution G A upstream_gene_variant BRCA-FR 6 30142686 30142686 single base substitution C T downstream_gene_variant BRCA-UK 6 30126268 30126268 single base substitution C G upstream_gene_variant BRCA-UK 6 30128272 30128272 single base substitution G A upstream_gene_variant BRCA-US 6 30126372 30126372 single base substitution G A upstream_gene_variant BRCA-US 6 30126399 30126399 single base substitution A C upstream_gene_variant BRCA-US 6 30131731 30131731 single base substitution C T synonymous_variant I90I 270C>T BRCA-US 6 30131731 30131731 single base substitution C T upstream_gene_variant BTCA-JP 6 30126365 30126365 single base substitution G A upstream_gene_variant BTCA-JP 6 30128286 30128286 single base substitution A G upstream_gene_variant BTCA-JP 6 30131335 30131335 single base substitution C T 5_prime_UTR_variant BTCA-JP 6 30131335 30131335 single base substitution C T upstream_gene_variant BTCA-JP 6 30139724 30139724 single base substitution C T downstream_gene_variant BTCA-JP 6 30139724 30139724 single base substitution C T intron_variant BTCA-JP 6 30139724 30139724 single base substitution C T stop_gained R161* 481C>T BTCA-JP 6 30139724 30139724 single base substitution C T synonymous_variant F332F 996C>T BTCA-JP 6 30139739 30139739 single base substitution G A downstream_gene_variant BTCA-JP 6 30139739 30139739 single base substitution G A intron_variant BTCA-JP 6 30139739 30139739 single base substitution G A synonymous_variant A337A 1011G>A CESC-US 6 30128238 30128238 single base substitution C T upstream_gene_variant COAD-US 6 30131546 30131546 single base substitution A G missense_variant I29V 85A>G COAD-US 6 30131546 30131546 single base substitution A G upstream_gene_variant COAD-US 6 30131724 30131726 deletion of <=200bp AGA - inframe_deletion EK88E COAD-US 6 30131724 30131726 deletion of <=200bp AGA - upstream_gene_variant COAD-US 6 30136204 30136204 single base substitution G T intron_variant COAD-US 6 30136204 30136204 single base substitution G T missense_variant R202M 605G>T COAD-US 6 30136204 30136204 single base substitution G T missense_variant R38M 113G>T COAD-US 6 30136204 30136204 single base substitution G T upstream_gene_variant COAD-US 6 30139635 30139635 single base substitution G A downstream_gene_variant COAD-US 6 30139635 30139635 single base substitution G A intron_variant COAD-US 6 30139635 30139635 single base substitution G A missense_variant A303T 907G>A COAD-US 6 30139635 30139635 single base substitution G A missense_variant R131H 392G>A COAD-US 6 30139699 30139699 single base substitution G A downstream_gene_variant COAD-US 6 30139699 30139699 single base substitution G A intron_variant COAD-US 6 30139699 30139699 single base substitution G A missense_variant S324N 971G>A COAD-US 6 30139699 30139699 single base substitution G A synonymous_variant E152E 456G>A COAD-US 6 30139772 30139772 single base substitution C A downstream_gene_variant COAD-US 6 30139772 30139772 single base substitution C A intron_variant COAD-US 6 30139772 30139772 single base substitution C A synonymous_variant R348R 1044C>A COAD-US 6 30139941 30139941 single base substitution G A downstream_gene_variant COAD-US 6 30139941 30139941 single base substitution G A intron_variant COAD-US 6 30139941 30139941 single base substitution G A missense_variant D405N 1213G>A COCA-CN 6 30128512 30128512 single base substitution G A upstream_gene_variant COCA-CN 6 30129133 30129133 single base substitution G A upstream_gene_variant COCA-CN 6 30131335 30131335 single base substitution C T 5_prime_UTR_variant COCA-CN 6 30131335 30131335 single base substitution C T upstream_gene_variant COCA-CN 6 30138706 30138706 single base substitution A C intron_variant COCA-CN 6 30140421 30140421 single base substitution G A 3_prime_UTR_variant COCA-CN 6 30140421 30140421 single base substitution G A downstream_gene_variant EOPC-DE 6 30132100 30132100 single base substitution G C intron_variant EOPC-DE 6 30132100 30132100 single base substitution G C upstream_gene_variant ESAD-UK 6 30126769 30126769 single base substitution C T upstream_gene_variant ESAD-UK 6 30128830 30128830 single base substitution G A upstream_gene_variant ESAD-UK 6 30130074 30130074 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 30130538 30130538 single base substitution T C upstream_gene_variant ESAD-UK 6 30130658 30130658 single base substitution C G upstream_gene_variant ESAD-UK 6 30130668 30130668 single base substitution C T upstream_gene_variant ESAD-UK 6 30130758 30130758 single base substitution A C upstream_gene_variant ESAD-UK 6 30131189 30131189 single base substitution C G 5_prime_UTR_variant ESAD-UK 6 30131189 30131189 single base substitution C G upstream_gene_variant ESAD-UK 6 30131329 30131329 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 6 30131329 30131329 single base substitution C G upstream_gene_variant ESAD-UK 6 30138764 30138764 single base substitution C A exon_variant ESAD-UK 6 30138764 30138764 single base substitution C A intron_variant ESAD-UK 6 30138764 30138764 single base substitution C A missense_variant H123N 367C>A ESAD-UK 6 30138764 30138764 single base substitution C A missense_variant H287N 859C>A ESAD-UK 6 30141550 30141550 single base substitution A G downstream_gene_variant ESAD-UK 6 30141576 30141576 single base substitution A T downstream_gene_variant ESAD-UK 6 30142828 30142828 single base substitution G T downstream_gene_variant ESAD-UK 6 30144488 30144488 deletion of <=200bp G - downstream_gene_variant ESAD-UK 6 30145162 30145162 single base substitution T A downstream_gene_variant ESCA-CN 6 30128380 30128380 single base substitution G A upstream_gene_variant GBM-US 6 30126240 30126240 single base substitution C T upstream_gene_variant GBM-US 6 30126364 30126364 single base substitution C T upstream_gene_variant GBM-US 6 30127012 30127012 single base substitution T C upstream_gene_variant GBM-US 6 30131441 30131441 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant GBM-US 6 30131441 30131441 single base substitution C T upstream_gene_variant KIRC-US 6 30126177 30126177 single base substitution G T upstream_gene_variant KIRP-US 6 30140094 30140094 deletion of <=200bp A - downstream_gene_variant KIRP-US 6 30140094 30140094 deletion of <=200bp A - frameshift_variant K456 KIRP-US 6 30140094 30140094 deletion of <=200bp A - intron_variant LAML-KR 6 30131546 30131546 single base substitution A G missense_variant I29V 85A>G LAML-KR 6 30131546 30131546 single base substitution A G upstream_gene_variant LAML-KR 6 30141531 30141531 single base substitution G A downstream_gene_variant LGG-US 6 30131720 30131720 single base substitution G A missense_variant G87S 259G>A LGG-US 6 30131720 30131720 single base substitution G A upstream_gene_variant LGG-US 6 30134981 30134981 single base substitution T C intron_variant LGG-US 6 30134981 30134981 single base substitution T C missense_variant L137P 410T>C LGG-US 6 30134981 30134981 single base substitution T C upstream_gene_variant LGG-US 6 30138295 30138295 single base substitution T C exon_variant LGG-US 6 30138295 30138295 single base substitution T C intron_variant LGG-US 6 30138295 30138295 single base substitution T C missense_variant F250S 749T>C LGG-US 6 30138295 30138295 single base substitution T C missense_variant F86S 257T>C LGG-US 6 30138337 30138337 single base substitution T C exon_variant LGG-US 6 30138337 30138337 single base substitution T C intron_variant LGG-US 6 30138337 30138337 single base substitution T C missense_variant I100T 299T>C LGG-US 6 30138337 30138337 single base substitution T C missense_variant I264T 791T>C LICA-FR 6 30126187 30126187 single base substitution C A upstream_gene_variant LICA-FR 6 30131473 30131473 single base substitution C T synonymous_variant T4T 12C>T LICA-FR 6 30131473 30131473 single base substitution C T upstream_gene_variant LICA-FR 6 30139690 30139692 deletion of <=200bp AGA - downstream_gene_variant LICA-FR 6 30139690 30139692 deletion of <=200bp AGA - inframe_deletion AE149A LICA-FR 6 30139690 30139692 deletion of <=200bp AGA - inframe_deletion QK321Q LICA-FR 6 30139690 30139692 deletion of <=200bp AGA - intron_variant LICA-FR 6 30139930 30139930 single base substitution C A downstream_gene_variant LICA-FR 6 30139930 30139930 single base substitution C A intron_variant LICA-FR 6 30139930 30139930 single base substitution C A missense_variant S401Y 1202C>A LICA-FR 6 30140064 30140064 single base substitution G T downstream_gene_variant LICA-FR 6 30140064 30140064 single base substitution G T intron_variant LICA-FR 6 30140064 30140064 single base substitution G T missense_variant G446C 1336G>T LICA-FR 6 30140764 30140764 single base substitution G C downstream_gene_variant LICA-FR 6 30142136 30142136 single base substitution A G downstream_gene_variant LIHC-US 6 30138279 30138279 single base substitution T C exon_variant LIHC-US 6 30138279 30138279 single base substitution T C intron_variant LIHC-US 6 30138279 30138279 single base substitution T C missense_variant C245R 733T>C LIHC-US 6 30138279 30138279 single base substitution T C missense_variant C81R 241T>C LIHC-US 6 30138285 30138285 single base substitution A C exon_variant LIHC-US 6 30138285 30138285 single base substitution A C intron_variant LIHC-US 6 30138285 30138285 single base substitution A C missense_variant M247L 739A>C LIHC-US 6 30138285 30138285 single base substitution A C missense_variant M83L 247A>C LINC-JP 6 30128250 30128250 single base substitution G A upstream_gene_variant LINC-JP 6 30128676 30128676 single base substitution T C upstream_gene_variant LINC-JP 6 30131335 30131335 single base substitution C T 5_prime_UTR_variant LINC-JP 6 30131335 30131335 single base substitution C T upstream_gene_variant LINC-JP 6 30131589 30131589 single base substitution T G missense_variant L43R 128T>G LINC-JP 6 30131589 30131589 single base substitution T G upstream_gene_variant LINC-JP 6 30135008 30135008 deletion of <=200bp A - frameshift_variant D146 LINC-JP 6 30135008 30135008 deletion of <=200bp A - intron_variant LINC-JP 6 30135008 30135008 deletion of <=200bp A - upstream_gene_variant LINC-JP 6 30136038 30136038 single base substitution A G intron_variant LINC-JP 6 30136038 30136038 single base substitution A G upstream_gene_variant LINC-JP 6 30138587 30138587 single base substitution G A intron_variant LINC-JP 6 30138808 30138808 single base substitution A T exon_variant LINC-JP 6 30138808 30138808 single base substitution A T intron_variant LINC-JP 6 30140342 30140342 single base substitution T C 3_prime_UTR_variant LINC-JP 6 30140342 30140342 single base substitution T C downstream_gene_variant LINC-JP 6 30140342 30140342 single base substitution T C intron_variant LINC-JP 6 30142536 30142536 single base substitution G T downstream_gene_variant LIRI-JP 6 30126971 30126971 single base substitution G T upstream_gene_variant LIRI-JP 6 30127671 30127671 single base substitution C T upstream_gene_variant LIRI-JP 6 30128296 30128296 single base substitution C T upstream_gene_variant LIRI-JP 6 30131220 30131220 single base substitution G T 5_prime_UTR_variant LIRI-JP 6 30131220 30131220 single base substitution G T upstream_gene_variant LIRI-JP 6 30132181 30132181 single base substitution G A intron_variant LIRI-JP 6 30132181 30132181 single base substitution G A upstream_gene_variant LIRI-JP 6 30132600 30132600 single base substitution T C intron_variant LIRI-JP 6 30132600 30132600 single base substitution T C upstream_gene_variant LIRI-JP 6 30134521 30134521 single base substitution T A intron_variant LIRI-JP 6 30134521 30134521 single base substitution T A upstream_gene_variant LIRI-JP 6 30135201 30135201 single base substitution T C intron_variant LIRI-JP 6 30135201 30135201 single base substitution T C upstream_gene_variant LIRI-JP 6 30135750 30135750 single base substitution A G intron_variant LIRI-JP 6 30135750 30135750 single base substitution A G upstream_gene_variant LIRI-JP 6 30136220 30136220 single base substitution A T intron_variant LIRI-JP 6 30136220 30136220 single base substitution A T synonymous_variant T207T 621A>T LIRI-JP 6 30136220 30136220 single base substitution A T synonymous_variant T43T 129A>T LIRI-JP 6 30136220 30136220 single base substitution A T upstream_gene_variant LIRI-JP 6 30136340 30136340 single base substitution A G intron_variant LIRI-JP 6 30136340 30136340 single base substitution A G upstream_gene_variant LIRI-JP 6 30141175 30141175 single base substitution C A downstream_gene_variant LIRI-JP 6 30141858 30141858 single base substitution T C downstream_gene_variant LUSC-KR 6 30129824 30129824 single base substitution G A upstream_gene_variant LUSC-KR 6 30133782 30133782 single base substitution C A intron_variant LUSC-KR 6 30133782 30133782 single base substitution C A upstream_gene_variant LUSC-KR 6 30135471 30135471 single base substitution G C intron_variant LUSC-KR 6 30135471 30135471 single base substitution G C upstream_gene_variant LUSC-KR 6 30136302 30136302 single base substitution C T intron_variant LUSC-KR 6 30136302 30136302 single base substitution C T synonymous_variant L235L 703C>T LUSC-KR 6 30136302 30136302 single base substitution C T synonymous_variant L71L 211C>T LUSC-KR 6 30136302 30136302 single base substitution C T upstream_gene_variant LUSC-KR 6 30136896 30136896 single base substitution C T intron_variant LUSC-KR 6 30136896 30136896 single base substitution C T upstream_gene_variant LUSC-KR 6 30138662 30138662 single base substitution C T intron_variant LUSC-KR 6 30138816 30138816 single base substitution T C exon_variant LUSC-KR 6 30138816 30138816 single base substitution T C intron_variant LUSC-KR 6 30139699 30139699 single base substitution G A downstream_gene_variant LUSC-KR 6 30139699 30139699 single base substitution G A intron_variant LUSC-KR 6 30139699 30139699 single base substitution G A missense_variant S324N 971G>A LUSC-KR 6 30139699 30139699 single base substitution G A synonymous_variant E152E 456G>A LUSC-KR 6 30140869 30140869 single base substitution C G downstream_gene_variant LUSC-US 6 30128523 30128523 single base substitution G T upstream_gene_variant LUSC-US 6 30131465 30131465 single base substitution C T missense_variant P2S 4C>T LUSC-US 6 30131465 30131465 single base substitution C T upstream_gene_variant LUSC-US 6 30131596 30131596 single base substitution G C missense_variant Q45H 135G>C LUSC-US 6 30131596 30131596 single base substitution G C upstream_gene_variant LUSC-US 6 30131694 30131694 single base substitution T C missense_variant L78P 233T>C LUSC-US 6 30131694 30131694 single base substitution T C upstream_gene_variant LUSC-US 6 30131695 30131695 single base substitution G T synonymous_variant L78L 234G>T LUSC-US 6 30131695 30131695 single base substitution G T upstream_gene_variant MALY-DE 6 30129847 30129847 single base substitution T C upstream_gene_variant MALY-DE 6 30135503 30135503 single base substitution G A intron_variant MALY-DE 6 30135503 30135503 single base substitution G A upstream_gene_variant MALY-DE 6 30137519 30137519 single base substitution A G intron_variant MALY-DE 6 30137519 30137519 single base substitution A G upstream_gene_variant MALY-DE 6 30139196 30139196 single base substitution T A downstream_gene_variant MALY-DE 6 30139196 30139196 single base substitution T A intron_variant MALY-DE 6 30140366 30140366 single base substitution C T 3_prime_UTR_variant MALY-DE 6 30140366 30140366 single base substitution C T downstream_gene_variant MALY-DE 6 30140366 30140366 single base substitution C T synonymous_variant D110D 330C>T MELA-AU 6 30126298 30126298 single base substitution C T upstream_gene_variant MELA-AU 6 30126338 30126338 single base substitution T C upstream_gene_variant MELA-AU 6 30126410 30126411 multiple base substitution (>=2bp and <=200bp) AG GA upstream_gene_variant MELA-AU 6 30126535 30126535 single base substitution C T upstream_gene_variant MELA-AU 6 30126627 30126627 single base substitution G A upstream_gene_variant MELA-AU 6 30126971 30126971 single base substitution G A upstream_gene_variant MELA-AU 6 30126980 30126980 single base substitution C T upstream_gene_variant MELA-AU 6 30127014 30127014 single base substitution G A upstream_gene_variant MELA-AU 6 30127149 30127149 single base substitution C T upstream_gene_variant MELA-AU 6 30127531 30127531 single base substitution G A upstream_gene_variant MELA-AU 6 30127559 30127559 single base substitution G A upstream_gene_variant MELA-AU 6 30127975 30127975 single base substitution C T upstream_gene_variant MELA-AU 6 30128174 30128174 single base substitution C T upstream_gene_variant MELA-AU 6 30128187 30128187 single base substitution C T upstream_gene_variant MELA-AU 6 30128190 30128190 single base substitution C A upstream_gene_variant MELA-AU 6 30128230 30128230 single base substitution C T upstream_gene_variant MELA-AU 6 30128312 30128312 single base substitution G A upstream_gene_variant MELA-AU 6 30128513 30128513 single base substitution G A upstream_gene_variant MELA-AU 6 30128549 30128549 single base substitution G A upstream_gene_variant MELA-AU 6 30128835 30128835 single base substitution G A upstream_gene_variant MELA-AU 6 30128877 30128877 single base substitution C T upstream_gene_variant MELA-AU 6 30128905 30128905 single base substitution G A upstream_gene_variant MELA-AU 6 30129238 30129238 single base substitution C T upstream_gene_variant MELA-AU 6 30129437 30129437 single base substitution C T upstream_gene_variant MELA-AU 6 30129633 30129633 single base substitution G A upstream_gene_variant MELA-AU 6 30129921 30129921 single base substitution C T upstream_gene_variant MELA-AU 6 30129937 30129937 single base substitution C T upstream_gene_variant MELA-AU 6 30130007 30130007 single base substitution C T upstream_gene_variant MELA-AU 6 30130025 30130025 single base substitution C T upstream_gene_variant MELA-AU 6 30130026 30130026 single base substitution C T upstream_gene_variant MELA-AU 6 30130029 30130029 single base substitution G A upstream_gene_variant MELA-AU 6 30130449 30130449 single base substitution C T upstream_gene_variant MELA-AU 6 30130528 30130528 single base substitution C T upstream_gene_variant MELA-AU 6 30130591 30130591 single base substitution A G upstream_gene_variant MELA-AU 6 30130777 30130777 single base substitution C T upstream_gene_variant MELA-AU 6 30130862 30130862 single base substitution G A upstream_gene_variant MELA-AU 6 30131144 30131144 single base substitution C T 5_prime_UTR_variant MELA-AU 6 30131144 30131144 single base substitution C T upstream_gene_variant MELA-AU 6 30131198 30131198 single base substitution G A 5_prime_UTR_variant MELA-AU 6 30131198 30131198 single base substitution G A upstream_gene_variant MELA-AU 6 30131300 30131300 single base substitution C T 5_prime_UTR_variant MELA-AU 6 30131300 30131300 single base substitution C T upstream_gene_variant MELA-AU 6 30131414 30131414 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 6 30131414 30131414 single base substitution C T upstream_gene_variant MELA-AU 6 30131415 30131415 single base substitution G A 5_prime_UTR_variant MELA-AU 6 30131415 30131415 single base substitution G A upstream_gene_variant MELA-AU 6 30131427 30131427 single base substitution G A 5_prime_UTR_variant MELA-AU 6 30131427 30131427 single base substitution G A upstream_gene_variant MELA-AU 6 30131491 30131491 single base substitution C T synonymous_variant V10V 30C>T MELA-AU 6 30131491 30131491 single base substitution C T upstream_gene_variant MELA-AU 6 30131492 30131492 single base substitution C T missense_variant H11Y 31C>T MELA-AU 6 30131492 30131492 single base substitution C T upstream_gene_variant MELA-AU 6 30131596 30131596 single base substitution G A synonymous_variant Q45Q 135G>A MELA-AU 6 30131596 30131596 single base substitution G A upstream_gene_variant MELA-AU 6 30131701 30131701 single base substitution A T missense_variant E80D 240A>T MELA-AU 6 30131701 30131701 single base substitution A T upstream_gene_variant MELA-AU 6 30131710 30131710 single base substitution C T synonymous_variant C83C 249C>T MELA-AU 6 30131710 30131710 single base substitution C T upstream_gene_variant MELA-AU 6 30131762 30131762 single base substitution C T missense_variant L101F 301C>T MELA-AU 6 30131762 30131762 single base substitution C T upstream_gene_variant MELA-AU 6 30131810 30131810 single base substitution G A intron_variant MELA-AU 6 30131810 30131810 single base substitution G A missense_variant G117R 349G>A MELA-AU 6 30131810 30131810 single base substitution G A upstream_gene_variant MELA-AU 6 30131911 30131911 single base substitution C T intron_variant MELA-AU 6 30131911 30131911 single base substitution C T upstream_gene_variant MELA-AU 6 30131916 30131916 single base substitution G A intron_variant MELA-AU 6 30131916 30131916 single base substitution G A upstream_gene_variant MELA-AU 6 30132038 30132038 single base substitution G A intron_variant MELA-AU 6 30132038 30132038 single base substitution G A upstream_gene_variant MELA-AU 6 30132192 30132192 single base substitution G A intron_variant MELA-AU 6 30132192 30132192 single base substitution G A upstream_gene_variant MELA-AU 6 30132279 30132279 single base substitution C T intron_variant MELA-AU 6 30132279 30132279 single base substitution C T upstream_gene_variant MELA-AU 6 30132442 30132442 single base substitution C T intron_variant MELA-AU 6 30132442 30132442 single base substitution C T upstream_gene_variant MELA-AU 6 30132589 30132589 single base substitution C T intron_variant MELA-AU 6 30132589 30132589 single base substitution C T upstream_gene_variant MELA-AU 6 30132650 30132650 single base substitution C T intron_variant MELA-AU 6 30132650 30132650 single base substitution C T upstream_gene_variant MELA-AU 6 30132688 30132688 single base substitution C T intron_variant MELA-AU 6 30132688 30132688 single base substitution C T upstream_gene_variant MELA-AU 6 30132830 30132830 single base substitution C T intron_variant MELA-AU 6 30132830 30132830 single base substitution C T upstream_gene_variant MELA-AU 6 30133161 30133161 single base substitution G A intron_variant MELA-AU 6 30133161 30133161 single base substitution G A upstream_gene_variant MELA-AU 6 30133192 30133192 single base substitution C T intron_variant MELA-AU 6 30133192 30133192 single base substitution C T upstream_gene_variant MELA-AU 6 30133649 30133649 single base substitution C T intron_variant MELA-AU 6 30133649 30133649 single base substitution C T upstream_gene_variant MELA-AU 6 30133822 30133822 single base substitution C T intron_variant MELA-AU 6 30133822 30133822 single base substitution C T upstream_gene_variant MELA-AU 6 30133943 30133943 single base substitution G A intron_variant MELA-AU 6 30133943 30133943 single base substitution G A upstream_gene_variant MELA-AU 6 30134036 30134036 single base substitution C T intron_variant MELA-AU 6 30134036 30134036 single base substitution C T upstream_gene_variant MELA-AU 6 30134507 30134507 single base substitution C T intron_variant MELA-AU 6 30134507 30134507 single base substitution C T upstream_gene_variant MELA-AU 6 30134614 30134614 single base substitution C T intron_variant MELA-AU 6 30134614 30134614 single base substitution C T upstream_gene_variant MELA-AU 6 30134650 30134650 single base substitution C T intron_variant MELA-AU 6 30134650 30134650 single base substitution C T upstream_gene_variant MELA-AU 6 30134956 30134956 single base substitution C T intron_variant MELA-AU 6 30134956 30134956 single base substitution C T missense_variant R129C 385C>T MELA-AU 6 30134956 30134956 single base substitution C T upstream_gene_variant MELA-AU 6 30135077 30135077 single base substitution C T intron_variant MELA-AU 6 30135077 30135077 single base substitution C T upstream_gene_variant MELA-AU 6 30135249 30135249 single base substitution C T intron_variant MELA-AU 6 30135249 30135249 single base substitution C T upstream_gene_variant MELA-AU 6 30135288 30135288 single base substitution G A intron_variant MELA-AU 6 30135288 30135288 single base substitution G A upstream_gene_variant MELA-AU 6 30135337 30135337 single base substitution G A intron_variant MELA-AU 6 30135337 30135337 single base substitution G A upstream_gene_variant MELA-AU 6 30135484 30135484 single base substitution G A intron_variant MELA-AU 6 30135484 30135484 single base substitution G A upstream_gene_variant MELA-AU 6 30135513 30135513 single base substitution G C intron_variant MELA-AU 6 30135513 30135513 single base substitution G C upstream_gene_variant MELA-AU 6 30135535 30135535 single base substitution C T intron_variant MELA-AU 6 30135535 30135535 single base substitution C T upstream_gene_variant MELA-AU 6 30135730 30135730 single base substitution C T intron_variant MELA-AU 6 30135730 30135730 single base substitution C T upstream_gene_variant MELA-AU 6 30135777 30135777 single base substitution G A intron_variant MELA-AU 6 30135777 30135777 single base substitution G A upstream_gene_variant MELA-AU 6 30136025 30136025 single base substitution G A intron_variant MELA-AU 6 30136025 30136025 single base substitution G A upstream_gene_variant MELA-AU 6 30136094 30136094 single base substitution G A intron_variant MELA-AU 6 30136094 30136094 single base substitution G A synonymous_variant K165K 495G>A MELA-AU 6 30136094 30136094 single base substitution G A synonymous_variant K1K 3G>A MELA-AU 6 30136094 30136094 single base substitution G A upstream_gene_variant MELA-AU 6 30136176 30136176 single base substitution G A intron_variant MELA-AU 6 30136176 30136176 single base substitution G A missense_variant E193K 577G>A MELA-AU 6 30136176 30136176 single base substitution G A missense_variant E29K 85G>A MELA-AU 6 30136176 30136176 single base substitution G A upstream_gene_variant MELA-AU 6 30136268 30136268 single base substitution G A intron_variant MELA-AU 6 30136268 30136268 single base substitution G A synonymous_variant L223L 669G>A MELA-AU 6 30136268 30136268 single base substitution G A synonymous_variant L59L 177G>A MELA-AU 6 30136268 30136268 single base substitution G A upstream_gene_variant MELA-AU 6 30136269 30136269 single base substitution G A intron_variant MELA-AU 6 30136269 30136269 single base substitution G A missense_variant E224K 670G>A MELA-AU 6 30136269 30136269 single base substitution G A missense_variant E60K 178G>A MELA-AU 6 30136269 30136269 single base substitution G A upstream_gene_variant MELA-AU 6 30136296 30136296 single base substitution G A intron_variant MELA-AU 6 30136296 30136296 single base substitution G A missense_variant E233K 697G>A MELA-AU 6 30136296 30136296 single base substitution G A missense_variant E69K 205G>A MELA-AU 6 30136296 30136296 single base substitution G A upstream_gene_variant MELA-AU 6 30136345 30136345 single base substitution G A intron_variant MELA-AU 6 30136345 30136345 single base substitution G A upstream_gene_variant MELA-AU 6 30136360 30136361 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 30136360 30136361 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 30136402 30136402 single base substitution G A intron_variant MELA-AU 6 30136402 30136402 single base substitution G A upstream_gene_variant MELA-AU 6 30136569 30136569 single base substitution G A intron_variant MELA-AU 6 30136569 30136569 single base substitution G A upstream_gene_variant MELA-AU 6 30136786 30136786 single base substitution C T intron_variant MELA-AU 6 30136786 30136786 single base substitution C T upstream_gene_variant MELA-AU 6 30136917 30136917 single base substitution G A intron_variant MELA-AU 6 30136917 30136917 single base substitution G A upstream_gene_variant MELA-AU 6 30136974 30136974 single base substitution G A intron_variant MELA-AU 6 30136974 30136974 single base substitution G A upstream_gene_variant MELA-AU 6 30137018 30137018 single base substitution G A intron_variant MELA-AU 6 30137018 30137018 single base substitution G A missense_variant D237N 709G>A MELA-AU 6 30137018 30137018 single base substitution G A missense_variant D73N 217G>A MELA-AU 6 30137018 30137018 single base substitution G A upstream_gene_variant MELA-AU 6 30137056 30137056 single base substitution C T intron_variant MELA-AU 6 30137056 30137056 single base substitution C T upstream_gene_variant MELA-AU 6 30137338 30137338 single base substitution T A intron_variant MELA-AU 6 30137338 30137338 single base substitution T A upstream_gene_variant MELA-AU 6 30137520 30137520 single base substitution G A intron_variant MELA-AU 6 30137520 30137520 single base substitution G A upstream_gene_variant MELA-AU 6 30137787 30137787 single base substitution G A intron_variant MELA-AU 6 30137787 30137787 single base substitution G A upstream_gene_variant MELA-AU 6 30137791 30137791 single base substitution C T intron_variant MELA-AU 6 30137791 30137791 single base substitution C T upstream_gene_variant MELA-AU 6 30137973 30137973 single base substitution C T intron_variant MELA-AU 6 30137973 30137973 single base substitution C T upstream_gene_variant MELA-AU 6 30138036 30138036 single base substitution C T intron_variant MELA-AU 6 30138036 30138036 single base substitution C T upstream_gene_variant MELA-AU 6 30138268 30138268 single base substitution C T exon_variant MELA-AU 6 30138268 30138268 single base substitution C T intron_variant MELA-AU 6 30138318 30138318 single base substitution C T exon_variant MELA-AU 6 30138318 30138318 single base substitution C T intron_variant MELA-AU 6 30138318 30138318 single base substitution C T missense_variant P258S 772C>T MELA-AU 6 30138318 30138318 single base substitution C T missense_variant P94S 280C>T MELA-AU 6 30138318 30138319 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 6 30138318 30138319 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 30138318 30138319 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P258F 772CC>TT MELA-AU 6 30138318 30138319 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P94F 280CC>TT MELA-AU 6 30138391 30138391 single base substitution C T intron_variant MELA-AU 6 30138391 30138391 single base substitution C T missense_variant S118L 353C>T MELA-AU 6 30138391 30138391 single base substitution C T missense_variant S282L 845C>T MELA-AU 6 30138391 30138391 single base substitution C T splice_region_variant MELA-AU 6 30138464 30138464 single base substitution C T intron_variant MELA-AU 6 30138571 30138571 single base substitution C T intron_variant MELA-AU 6 30138773 30138773 single base substitution G A exon_variant MELA-AU 6 30138773 30138773 single base substitution G A intron_variant MELA-AU 6 30138773 30138773 single base substitution G A missense_variant E126K 376G>A MELA-AU 6 30138773 30138773 single base substitution G A missense_variant E290K 868G>A MELA-AU 6 30138819 30138819 single base substitution C T exon_variant MELA-AU 6 30138819 30138819 single base substitution C T intron_variant MELA-AU 6 30139330 30139330 single base substitution A C downstream_gene_variant MELA-AU 6 30139330 30139330 single base substitution A C intron_variant MELA-AU 6 30139771 30139771 single base substitution G A downstream_gene_variant MELA-AU 6 30139771 30139771 single base substitution G A intron_variant MELA-AU 6 30139771 30139771 single base substitution G A missense_variant R348H 1043G>A MELA-AU 6 30139847 30139847 single base substitution G A downstream_gene_variant MELA-AU 6 30139847 30139847 single base substitution G A intron_variant MELA-AU 6 30139847 30139847 single base substitution G A synonymous_variant R373R 1119G>A MELA-AU 6 30140075 30140075 single base substitution C T downstream_gene_variant MELA-AU 6 30140075 30140075 single base substitution C T intron_variant MELA-AU 6 30140075 30140075 single base substitution C T synonymous_variant F449F 1347C>T MELA-AU 6 30140255 30140255 single base substitution C T 3_prime_UTR_variant MELA-AU 6 30140255 30140255 single base substitution C T downstream_gene_variant MELA-AU 6 30140255 30140255 single base substitution C T intron_variant MELA-AU 6 30140299 30140299 single base substitution C T 3_prime_UTR_variant MELA-AU 6 30140299 30140299 single base substitution C T downstream_gene_variant MELA-AU 6 30140299 30140299 single base substitution C T intron_variant MELA-AU 6 30140807 30140807 single base substitution G A downstream_gene_variant MELA-AU 6 30141052 30141052 single base substitution C T downstream_gene_variant MELA-AU 6 30141073 30141073 single base substitution C T downstream_gene_variant MELA-AU 6 30141147 30141147 single base substitution C T downstream_gene_variant MELA-AU 6 30141263 30141264 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 30141338 30141338 single base substitution G A downstream_gene_variant MELA-AU 6 30141445 30141445 single base substitution C T downstream_gene_variant MELA-AU 6 30141460 30141460 single base substitution G A downstream_gene_variant MELA-AU 6 30141718 30141718 single base substitution C T downstream_gene_variant MELA-AU 6 30141748 30141748 single base substitution C T downstream_gene_variant MELA-AU 6 30142124 30142124 single base substitution C T downstream_gene_variant MELA-AU 6 30142283 30142283 single base substitution G A downstream_gene_variant MELA-AU 6 30142502 30142502 single base substitution C T downstream_gene_variant MELA-AU 6 30142687 30142687 single base substitution G A downstream_gene_variant MELA-AU 6 30142745 30142745 single base substitution C T downstream_gene_variant MELA-AU 6 30142867 30142867 single base substitution C T downstream_gene_variant MELA-AU 6 30142898 30142898 single base substitution G A downstream_gene_variant MELA-AU 6 30142901 30142901 single base substitution A G downstream_gene_variant MELA-AU 6 30142909 30142909 single base substitution G A downstream_gene_variant MELA-AU 6 30143025 30143025 single base substitution C T downstream_gene_variant MELA-AU 6 30143206 30143206 single base substitution G A downstream_gene_variant MELA-AU 6 30143230 30143230 single base substitution C T downstream_gene_variant MELA-AU 6 30143311 30143311 single base substitution G A downstream_gene_variant MELA-AU 6 30143535 30143535 single base substitution C T downstream_gene_variant MELA-AU 6 30143547 30143547 single base substitution G A downstream_gene_variant MELA-AU 6 30143601 30143601 single base substitution C T downstream_gene_variant MELA-AU 6 30143718 30143718 single base substitution T C downstream_gene_variant MELA-AU 6 30144149 30144149 single base substitution C T downstream_gene_variant MELA-AU 6 30144421 30144421 single base substitution C T downstream_gene_variant MELA-AU 6 30144507 30144507 single base substitution G A downstream_gene_variant MELA-AU 6 30144515 30144515 single base substitution G A downstream_gene_variant MELA-AU 6 30144516 30144516 single base substitution G A downstream_gene_variant MELA-AU 6 30144577 30144577 single base substitution C T downstream_gene_variant MELA-AU 6 30144712 30144712 single base substitution C T downstream_gene_variant MELA-AU 6 30144786 30144786 single base substitution G A downstream_gene_variant MELA-AU 6 30144933 30144933 single base substitution C T downstream_gene_variant MELA-AU 6 30144938 30144938 single base substitution C T downstream_gene_variant MELA-AU 6 30144949 30144949 single base substitution G A downstream_gene_variant MELA-AU 6 30145270 30145270 single base substitution C T downstream_gene_variant MELA-AU 6 30145297 30145297 single base substitution C T downstream_gene_variant MELA-AU 6 30145337 30145337 single base substitution G A downstream_gene_variant MELA-AU 6 30145457 30145457 single base substitution C T downstream_gene_variant MELA-AU 6 30145473 30145473 single base substitution G A downstream_gene_variant ORCA-IN 6 30135276 30135276 single base substitution C A intron_variant ORCA-IN 6 30135276 30135276 single base substitution C A upstream_gene_variant OV-AU 6 30128453 30128453 single base substitution T G upstream_gene_variant OV-AU 6 30130821 30130821 single base substitution T C upstream_gene_variant OV-AU 6 30131204 30131204 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant OV-AU 6 30131204 30131204 single base substitution C G upstream_gene_variant OV-AU 6 30139196 30139196 single base substitution T A downstream_gene_variant OV-AU 6 30139196 30139196 single base substitution T A intron_variant OV-AU 6 30140515 30140515 single base substitution T G downstream_gene_variant OV-AU 6 30141795 30141795 single base substitution G A downstream_gene_variant OV-AU 6 30143650 30143650 single base substitution G A downstream_gene_variant OV-AU 6 30144261 30144261 single base substitution G A downstream_gene_variant OV-AU 6 30144340 30144340 single base substitution C T downstream_gene_variant PACA-AU 6 30129118 30129118 single base substitution C T upstream_gene_variant PACA-AU 6 30137256 30137256 deletion of <=200bp T - intron_variant PACA-AU 6 30137256 30137256 deletion of <=200bp T - upstream_gene_variant PACA-AU 6 30138613 30138613 single base substitution C A intron_variant PACA-AU 6 30138690 30138690 single base substitution C T intron_variant PACA-AU 6 30139884 30139884 single base substitution G A downstream_gene_variant PACA-AU 6 30139884 30139884 single base substitution G A intron_variant PACA-AU 6 30139884 30139884 single base substitution G A missense_variant V386I 1156G>A PACA-AU 6 30141485 30141485 insertion of <=200bp - A downstream_gene_variant PBCA-DE 6 30132886 30132886 insertion of <=200bp - T intron_variant PBCA-DE 6 30132886 30132886 insertion of <=200bp - T upstream_gene_variant PBCA-DE 6 30135672 30135672 single base substitution G A intron_variant PBCA-DE 6 30135672 30135672 single base substitution G A upstream_gene_variant PBCA-DE 6 30141337 30141337 single base substitution C T downstream_gene_variant PRAD-UK 6 30132762 30132762 single base substitution C T intron_variant PRAD-UK 6 30132762 30132762 single base substitution C T upstream_gene_variant PRAD-UK 6 30145099 30145099 single base substitution G A downstream_gene_variant READ-US 6 30128548 30128548 single base substitution C T upstream_gene_variant READ-US 6 30136085 30136085 single base substitution C T intron_variant READ-US 6 30136085 30136085 single base substitution C T synonymous_variant I162I 486C>T READ-US 6 30136085 30136085 single base substitution C T upstream_gene_variant RECA-EU 6 30131545 30131545 single base substitution C A synonymous_variant T28T 84C>A RECA-EU 6 30131545 30131545 single base substitution C A upstream_gene_variant SKCA-BR 6 30126215 30126215 single base substitution C T upstream_gene_variant SKCA-BR 6 30127990 30127990 single base substitution G A upstream_gene_variant SKCA-BR 6 30128835 30128835 single base substitution G A upstream_gene_variant SKCA-BR 6 30129062 30129062 single base substitution G A upstream_gene_variant SKCA-BR 6 30130252 30130252 single base substitution G A upstream_gene_variant SKCA-BR 6 30130264 30130264 single base substitution T G upstream_gene_variant SKCA-BR 6 30130708 30130708 insertion of <=200bp - AAAAT upstream_gene_variant SKCA-BR 6 30131367 30131367 single base substitution C T 5_prime_UTR_variant SKCA-BR 6 30131367 30131367 single base substitution C T upstream_gene_variant SKCA-BR 6 30134641 30134641 single base substitution G A intron_variant SKCA-BR 6 30134641 30134641 single base substitution G A upstream_gene_variant SKCA-BR 6 30134843 30134843 single base substitution C T intron_variant SKCA-BR 6 30134843 30134843 single base substitution C T upstream_gene_variant SKCA-BR 6 30136068 30136068 single base substitution C T intron_variant SKCA-BR 6 30136068 30136068 single base substitution C T upstream_gene_variant SKCA-BR 6 30136148 30136148 single base substitution G A intron_variant SKCA-BR 6 30136148 30136148 single base substitution G A synonymous_variant Q183Q 549G>A SKCA-BR 6 30136148 30136148 single base substitution G A synonymous_variant Q19Q 57G>A SKCA-BR 6 30136148 30136148 single base substitution G A upstream_gene_variant SKCA-BR 6 30136259 30136259 single base substitution C T intron_variant SKCA-BR 6 30136259 30136259 single base substitution C T synonymous_variant V220V 660C>T SKCA-BR 6 30136259 30136259 single base substitution C T synonymous_variant V56V 168C>T SKCA-BR 6 30136259 30136259 single base substitution C T upstream_gene_variant SKCA-BR 6 30136302 30136302 single base substitution C G intron_variant SKCA-BR 6 30136302 30136302 single base substitution C G missense_variant L235V 703C>G SKCA-BR 6 30136302 30136302 single base substitution C G missense_variant L71V 211C>G SKCA-BR 6 30136302 30136302 single base substitution C G upstream_gene_variant SKCA-BR 6 30136787 30136787 single base substitution C T intron_variant SKCA-BR 6 30136787 30136787 single base substitution C T upstream_gene_variant SKCA-BR 6 30137218 30137218 single base substitution G A intron_variant SKCA-BR 6 30137218 30137218 single base substitution G A upstream_gene_variant SKCA-BR 6 30138162 30138162 single base substitution C G exon_variant SKCA-BR 6 30138162 30138162 single base substitution C G intron_variant SKCA-BR 6 30141280 30141280 single base substitution C T downstream_gene_variant SKCA-BR 6 30141851 30141851 single base substitution G A downstream_gene_variant SKCA-BR 6 30143558 30143558 single base substitution C T downstream_gene_variant SKCM-US 6 30126183 30126183 single base substitution A G upstream_gene_variant SKCM-US 6 30126277 30126277 single base substitution C T upstream_gene_variant SKCM-US 6 30126365 30126365 single base substitution G A upstream_gene_variant SKCM-US 6 30128214 30128214 single base substitution G A upstream_gene_variant SKCM-US 6 30128312 30128312 single base substitution G A upstream_gene_variant SKCM-US 6 30128328 30128328 single base substitution C T upstream_gene_variant SKCM-US 6 30128351 30128351 single base substitution C T upstream_gene_variant SKCM-US 6 30128370 30128370 single base substitution G A upstream_gene_variant SKCM-US 6 30128423 30128423 single base substitution G A upstream_gene_variant SKCM-US 6 30128443 30128443 single base substitution G A upstream_gene_variant SKCM-US 6 30128480 30128480 single base substitution C T upstream_gene_variant SKCM-US 6 30128513 30128513 single base substitution G A upstream_gene_variant SKCM-US 6 30128563 30128563 single base substitution C T upstream_gene_variant SKCM-US 6 30131573 30131573 single base substitution C T missense_variant L38F 112C>T SKCM-US 6 30131573 30131573 single base substitution C T upstream_gene_variant SKCM-US 6 30131599 30131599 single base substitution G A missense_variant M46I 138G>A SKCM-US 6 30131599 30131599 single base substitution G A upstream_gene_variant SKCM-US 6 30131610 30131610 single base substitution C T missense_variant S50F 149C>T SKCM-US 6 30131610 30131610 single base substitution C T upstream_gene_variant SKCM-US 6 30131648 30131648 single base substitution G A missense_variant E63K 187G>A SKCM-US 6 30131648 30131648 single base substitution G A upstream_gene_variant SKCM-US 6 30131682 30131682 single base substitution C T missense_variant P74L 221C>T SKCM-US 6 30131682 30131682 single base substitution C T upstream_gene_variant SKCM-US 6 30131690 30131690 single base substitution C T missense_variant P77S 229C>T SKCM-US 6 30131690 30131690 single base substitution C T upstream_gene_variant SKCM-US 6 30131762 30131762 single base substitution C T missense_variant L101F 301C>T SKCM-US 6 30131762 30131762 single base substitution C T upstream_gene_variant SKCM-US 6 30131816 30131816 single base substitution C T intron_variant SKCM-US 6 30131816 30131816 single base substitution C T synonymous_variant L119L 355C>T SKCM-US 6 30131816 30131816 single base substitution C T upstream_gene_variant SKCM-US 6 30134956 30134956 single base substitution C T intron_variant SKCM-US 6 30134956 30134956 single base substitution C T missense_variant R129C 385C>T SKCM-US 6 30134956 30134956 single base substitution C T upstream_gene_variant SKCM-US 6 30134964 30134964 single base substitution G A intron_variant SKCM-US 6 30134964 30134964 single base substitution G A synonymous_variant R131R 393G>A SKCM-US 6 30134964 30134964 single base substitution G A upstream_gene_variant SKCM-US 6 30134986 30134986 single base substitution A C intron_variant SKCM-US 6 30134986 30134986 single base substitution A C missense_variant T139P 415A>C SKCM-US 6 30134986 30134986 single base substitution A C upstream_gene_variant SKCM-US 6 30135034 30135034 single base substitution C T intron_variant SKCM-US 6 30135034 30135034 single base substitution C T missense_variant L155F 463C>T SKCM-US 6 30135034 30135034 single base substitution C T upstream_gene_variant SKCM-US 6 30136134 30136134 single base substitution G A intron_variant SKCM-US 6 30136134 30136134 single base substitution G A missense_variant E15K 43G>A SKCM-US 6 30136134 30136134 single base substitution G A missense_variant E179K 535G>A SKCM-US 6 30136134 30136134 single base substitution G A upstream_gene_variant SKCM-US 6 30136161 30136161 single base substitution C T intron_variant SKCM-US 6 30136161 30136161 single base substitution C T synonymous_variant L188L 562C>T SKCM-US 6 30136161 30136161 single base substitution C T synonymous_variant L24L 70C>T SKCM-US 6 30136161 30136161 single base substitution C T upstream_gene_variant SKCM-US 6 30136170 30136170 single base substitution C T intron_variant SKCM-US 6 30136170 30136170 single base substitution C T synonymous_variant L191L 571C>T SKCM-US 6 30136170 30136170 single base substitution C T synonymous_variant L27L 79C>T SKCM-US 6 30136170 30136170 single base substitution C T upstream_gene_variant SKCM-US 6 30136175 30136175 single base substitution G A intron_variant SKCM-US 6 30136175 30136175 single base substitution G A synonymous_variant R192R 576G>A SKCM-US 6 30136175 30136175 single base substitution G A synonymous_variant R28R 84G>A SKCM-US 6 30136175 30136175 single base substitution G A upstream_gene_variant SKCM-US 6 30136262 30136262 single base substitution G A intron_variant SKCM-US 6 30136262 30136262 single base substitution G A synonymous_variant K221K 663G>A SKCM-US 6 30136262 30136262 single base substitution G A synonymous_variant K57K 171G>A SKCM-US 6 30136262 30136262 single base substitution G A upstream_gene_variant SKCM-US 6 30137018 30137018 single base substitution G A intron_variant SKCM-US 6 30137018 30137018 single base substitution G A missense_variant D237N 709G>A SKCM-US 6 30137018 30137018 single base substitution G A missense_variant D73N 217G>A SKCM-US 6 30137018 30137018 single base substitution G A upstream_gene_variant SKCM-US 6 30137031 30137031 single base substitution A G intron_variant SKCM-US 6 30137031 30137031 single base substitution A G missense_variant N241S 722A>G SKCM-US 6 30137031 30137031 single base substitution A G missense_variant N77S 230A>G SKCM-US 6 30137031 30137031 single base substitution A G upstream_gene_variant SKCM-US 6 30138389 30138389 single base substitution C T exon_variant SKCM-US 6 30138389 30138389 single base substitution C T intron_variant SKCM-US 6 30138389 30138389 single base substitution C T synonymous_variant F117F 351C>T SKCM-US 6 30138389 30138389 single base substitution C T synonymous_variant F281F 843C>T SKCM-US 6 30138773 30138773 single base substitution G A exon_variant SKCM-US 6 30138773 30138773 single base substitution G A intron_variant SKCM-US 6 30138773 30138773 single base substitution G A missense_variant E126K 376G>A SKCM-US 6 30138773 30138773 single base substitution G A missense_variant E290K 868G>A SKCM-US 6 30138786 30138786 single base substitution G A exon_variant SKCM-US 6 30138786 30138786 single base substitution G A intron_variant SKCM-US 6 30138786 30138786 single base substitution G A splice_donor_variant SKCM-US 6 30139662 30139662 single base substitution G A downstream_gene_variant SKCM-US 6 30139662 30139662 single base substitution G A intron_variant SKCM-US 6 30139662 30139662 single base substitution G A missense_variant D312N 934G>A SKCM-US 6 30139662 30139662 single base substitution G A missense_variant R140K 419G>A SKCM-US 6 30139833 30139833 deletion of <=200bp G - downstream_gene_variant SKCM-US 6 30139833 30139833 deletion of <=200bp G - frameshift_variant G369 SKCM-US 6 30139833 30139833 deletion of <=200bp G - intron_variant SKCM-US 6 30140006 30140006 single base substitution G A downstream_gene_variant SKCM-US 6 30140006 30140006 single base substitution G A intron_variant SKCM-US 6 30140006 30140006 single base substitution G A synonymous_variant V426V 1278G>A STAD-US 6 30128498 30128498 single base substitution T C upstream_gene_variant STAD-US 6 30139991 30139991 single base substitution C T downstream_gene_variant STAD-US 6 30139991 30139991 single base substitution C T intron_variant STAD-US 6 30139991 30139991 single base substitution C T synonymous_variant Y421Y 1263C>T THCA-SA 6 30126176 30126176 single base substitution C T upstream_gene_variant THCA-SA 6 30131515 30131515 single base substitution C A synonymous_variant L18L 54C>A THCA-SA 6 30131515 30131515 single base substitution C A upstream_gene_variant THCA-US 6 30128710 30128710 single base substitution T C upstream_gene_variant UCEC-US 6 30128271 30128271 single base substitution C T upstream_gene_variant UCEC-US 6 30128423 30128423 single base substitution G T upstream_gene_variant UCEC-US 6 30131749 30131749 single base substitution C T synonymous_variant N96N 288C>T UCEC-US 6 30131749 30131749 single base substitution C T upstream_gene_variant UCEC-US 6 30131750 30131750 single base substitution G T missense_variant D97Y 289G>T UCEC-US 6 30131750 30131750 single base substitution G T upstream_gene_variant UCEC-US 6 30136086 30136086 single base substitution G A intron_variant UCEC-US 6 30136086 30136086 single base substitution G A missense_variant E163K 487G>A UCEC-US 6 30136086 30136086 single base substitution G A upstream_gene_variant UCEC-US 6 30138316 30138316 single base substitution C A exon_variant UCEC-US 6 30138316 30138316 single base substitution C A intron_variant UCEC-US 6 30138316 30138316 single base substitution C A missense_variant S257Y 770C>A UCEC-US 6 30138316 30138316 single base substitution C A missense_variant S93Y 278C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC1734T COSM4800888 c.12C>T p.T4T Substitution - coding silent 6:30163696-30163696 + TCGA-FS-A1Z3-06 COSM3624190 c.187G>A p.E63K Substitution - Missense 6:30163871-30163871 + TCGA-EE-A3AA-06 COSM3624196 c.301C>T p.L101F Substitution - Missense 6:30163985-30163985 + Pat_24_B COSM5870027 c.13C>T p.P5S Substitution - Missense 6:30163697-30163697 + HCC19 COSM3662346 c.128T>G p.L43R Substitution - Missense 6:30163812-30163812 + 2218458 COSM4421205 c.118C>T p.L40F Substitution - Missense 6:30163802-30163802 + TCGA-AZ-6598-01 COSM5140746 c.263_265delAGA p.K89delK Deletion - In frame 6:30163947-30163949 + TCGA-GN-A265-06 COSM3624187 c.138G>A p.M46I Substitution - Missense 6:30163822-30163822 + C0100T COSM4155157 c.84C>A p.T28T Substitution - coding silent 6:30163768-30163768 + TCGA-GN-A269-01 COSM3624188 c.149C>T p.S50F Substitution - Missense 6:30163833-30163833 + TCGA-C8-A3M8-01 COSM3829985 c.270C>T p.I90I Substitution - coding silent 6:30163954-30163954 + CHC322T COSM3761795 c.85A>G p.I29V Substitution - Missense 6:30163769-30163769 + HCC142T COSM3747663 c.316-10T>C p.? Unknown 6:30172565-30172565 + TCGA-EE-A2A5-06 COSM3624185 c.112C>T p.L38F Substitution - Missense 6:30163796-30163796 + tumor_4113191 COSM5947765 c.330C>T p.D110D Substitution - coding silent 6:30172589-30172589 + PD7305a COSM5792084 c.266A>G p.K89R Substitution - Missense 6:30163950-30163950 + TCGA-AM-5820-01 COSM3761795 c.85A>G p.I29V Substitution - Missense 6:30163769-30163769 + Pat_40_A COSM5870029 c.220C>T p.P74S Substitution - Missense 6:30163904-30163904 + DN110DC COSM5792084 c.266A>G p.K89R Substitution - Missense 6:30163950-30163950 + C086 COSM5540792 c.184G>A p.E62K Substitution - Missense 6:30163868-30163868 + TCGA-AZ-4615-01 COSM3761795 c.85A>G p.I29V Substitution - Missense 6:30163769-30163769 + TCGA-ER-A194-01 COSM3624192 c.221C>T p.P74L Substitution - Missense 6:30163905-30163905 + TCGA-HT-7854-01 COSM3928297 c.259G>A p.G87S Substitution - Missense 6:30163943-30163943 + 3402_T COSM3948964 c.294C>A p.A98A Substitution - coding silent 6:30163978-30163978 + CSCC-20-T COSM4568286 c.106T>C p.C36R Substitution - Missense 6:30163790-30163790 + Pat_24_A COSM5870027 c.13C>T p.P5S Substitution - Missense 6:30163697-30163697 + T3090 COSM4735931 c.273_275delCTT p.F93delF Deletion - In frame 6:30163957-30163959 + CHC1734T COSM4800888 c.12C>T p.T4T Substitution - coding silent 6:30163696-30163696 + CSCC-29-T COSM4461518 c.120C>T p.L40L Substitution - coding silent 6:30163804-30163804 + TCGA-IH-A3EA-01 COSM3624194 c.229C>T p.P77S Substitution - Missense 6:30163913-30163913 + PD8618a COSM5779186 c.341G>A p.C114Y Substitution - Missense 6:30172600-30172600 + CN-AML-CR-29-Dx COSM3761795 c.85A>G p.I29V Substitution - Missense 6:30163769-30163769 +