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 3 52294439 52294439 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr3:52294439C>T c.505G>A c.(505-507)Gaa>Aaa p.E169K BLCA 3 52294512 52294512 + Silent SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr3:52294512G>A c.432C>T c.(430-432)ctC>ctT p.L144L BRCA 3 52291511 52291511 + Missense_Mutation SNP C C A TCGA-A2-A0CX-01A-21W-A019-09 TCGA-A2-A0CX-10A-01W-A021-09 g.chr3:52291511C>A c.937G>T c.(937-939)Gac>Tac p.D313Y BRCA 3 52293228 52293228 + Nonsense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 g.chr3:52293228G>A c.754C>T c.(754-756)Cag>Tag p.Q252* BRCA 3 52293748 52293748 + Silent SNP C C T TCGA-A2-A0CX-01A-21W-A019-09 TCGA-A2-A0CX-10A-01W-A021-09 g.chr3:52293748C>T c.684G>A c.(682-684)gtG>gtA p.V228V CESC 3 52312323 52312323 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 g.chr3:52312323C>T c.55G>A c.(55-57)Gaa>Aaa p.E19K GBM 3 52292683 52292683 + Missense_Mutation SNP C C T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 g.chr3:52292683C>T c.781G>A c.(781-783)Ggc>Agc p.G261S GBM 3 52304745 52304745 + Missense_Mutation SNP C C G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 g.chr3:52304745C>G c.242G>C c.(241-243)aGc>aCc p.S81T GBMLGG 3 52292683 52292683 + Missense_Mutation SNP C C T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 g.chr3:52292683C>T c.781G>A c.(781-783)Ggc>Agc p.G261S GBMLGG 3 52304745 52304745 + Missense_Mutation SNP C C G TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 g.chr3:52304745C>G c.242G>C c.(241-243)aGc>aCc p.S81T HNSC 3 52292653 52292653 + Missense_Mutation SNP C C A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 g.chr3:52292653C>A c.811G>T c.(811-813)Ggt>Tgt p.G271C HNSC 3 52304734 52304734 + Missense_Mutation SNP T T C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 g.chr3:52304734T>C c.253A>G c.(253-255)Ata>Gta p.I85V LIHC 3 52293863 52293863 + Missense_Mutation SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr3:52293863T>C c.569A>G c.(568-570)cAg>cGg p.Q190R LIHC 3 52304771 52304771 + Silent SNP A A T TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr3:52304771A>T c.216T>A c.(214-216)acT>acA p.T72T LUSC 3 52312361 52312361 + Missense_Mutation SNP C C G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr3:52312361C>G c.17G>C c.(16-18)aGc>aCc p.S6T OV 3 52295435 52295435 + Missense_Mutation SNP C C G TCGA-24-1551-01A-01W-0551-08 TCGA-24-1551-10A-01W-0551-08 g.chr3:52295435C>G c.387G>C c.(385-387)aaG>aaC p.K129N PAAD 3 52292632 52292632 + Missense_Mutation SNP C C A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 g.chr3:52292632C>A c.832G>T c.(832-834)Gat>Tat p.D278Y PRAD 3 52293788 52293788 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:52293788C>T c.644G>A c.(643-645)gGc>gAc p.G215D PRAD 3 52304795 52304795 + Silent SNP A A G TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 g.chr3:52304795A>G c.192T>C c.(190-192)taT>taC p.Y64Y SKCM 3 52293245 52293245 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 g.chr3:52293245G>A c.737C>T c.(736-738)tCa>tTa p.S246L SKCM 3 52293735 52293735 + Missense_Mutation SNP C C A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:52293735C>A c.697G>T c.(697-699)Ggg>Tgg p.G233W

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 3 52324756 52324756 single base substitution G T upstream_gene_variant BLCA-CN 3 52326290 52326290 single base substitution C T upstream_gene_variant BLCA-US 3 52294439 52294439 single base substitution C T downstream_gene_variant BLCA-US 3 52294439 52294439 single base substitution C T exon_variant BLCA-US 3 52294439 52294439 single base substitution C T missense_variant E169K 505G>A BLCA-US 3 52294439 52294439 single base substitution C T missense_variant E55K 163G>A BLCA-US 3 52325046 52325046 single base substitution G A upstream_gene_variant BLCA-US 3 52325777 52325777 single base substitution C G upstream_gene_variant BLCA-US 3 52326880 52326880 single base substitution G T upstream_gene_variant BRCA-EU 3 52283940 52283940 single base substitution A C downstream_gene_variant BRCA-EU 3 52284146 52284146 single base substitution T C downstream_gene_variant BRCA-EU 3 52284611 52284611 single base substitution G C downstream_gene_variant BRCA-EU 3 52284824 52284824 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 52285831 52285831 single base substitution G C downstream_gene_variant BRCA-EU 3 52288308 52288308 single base substitution C A downstream_gene_variant BRCA-EU 3 52291437 52291437 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 52291437 52291437 single base substitution C G downstream_gene_variant BRCA-EU 3 52291437 52291437 single base substitution C G exon_variant BRCA-EU 3 52292452 52292452 single base substitution T C downstream_gene_variant BRCA-EU 3 52292452 52292452 single base substitution T C intron_variant BRCA-EU 3 52293070 52293070 single base substitution G C downstream_gene_variant BRCA-EU 3 52293070 52293070 single base substitution G C intron_variant BRCA-EU 3 52293318 52293318 single base substitution G C downstream_gene_variant BRCA-EU 3 52293318 52293318 single base substitution G C intron_variant BRCA-EU 3 52294707 52294707 insertion of <=200bp - A intron_variant BRCA-EU 3 52296446 52296446 single base substitution G A intron_variant BRCA-EU 3 52297966 52297966 single base substitution G C intron_variant BRCA-EU 3 52298001 52298001 single base substitution G A intron_variant BRCA-EU 3 52298816 52298816 deletion of <=200bp T - intron_variant BRCA-EU 3 52298923 52298923 single base substitution C T intron_variant BRCA-EU 3 52300515 52300515 single base substitution G A intron_variant BRCA-EU 3 52300810 52300810 single base substitution C G intron_variant BRCA-EU 3 52300913 52300913 single base substitution C T intron_variant BRCA-EU 3 52300967 52300967 single base substitution C G splice_donor_variant BRCA-EU 3 52301026 52301026 single base substitution G T 5_prime_UTR_variant BRCA-EU 3 52301026 52301026 single base substitution G T exon_variant BRCA-EU 3 52301026 52301026 single base substitution G T missense_variant R90S 268C>A BRCA-EU 3 52301271 52301271 deletion of <=200bp C - exon_variant BRCA-EU 3 52301271 52301271 deletion of <=200bp C - intron_variant BRCA-EU 3 52304562 52304562 single base substitution G A intron_variant BRCA-EU 3 52304562 52304562 single base substitution G A upstream_gene_variant BRCA-EU 3 52305623 52305623 single base substitution G A intron_variant BRCA-EU 3 52305623 52305623 single base substitution G A upstream_gene_variant BRCA-EU 3 52306298 52306298 single base substitution G A intron_variant BRCA-EU 3 52306298 52306298 single base substitution G A upstream_gene_variant BRCA-EU 3 52307724 52307724 single base substitution C G intron_variant BRCA-EU 3 52309585 52309585 single base substitution A G intron_variant BRCA-EU 3 52309897 52309897 single base substitution C G intron_variant BRCA-EU 3 52310450 52310450 single base substitution C A intron_variant BRCA-EU 3 52311803 52311803 single base substitution C A intron_variant BRCA-EU 3 52312024 52312024 single base substitution C G intron_variant BRCA-EU 3 52312529 52312529 single base substitution C T 5_prime_UTR_variant BRCA-EU 3 52312529 52312529 single base substitution C T intron_variant BRCA-EU 3 52312529 52312529 single base substitution C T upstream_gene_variant BRCA-EU 3 52313403 52313403 single base substitution C T intron_variant BRCA-EU 3 52313403 52313403 single base substitution C T upstream_gene_variant BRCA-EU 3 52315306 52315306 single base substitution G A intron_variant BRCA-EU 3 52315306 52315306 single base substitution G A upstream_gene_variant BRCA-EU 3 52315588 52315588 single base substitution G A intron_variant BRCA-EU 3 52315588 52315588 single base substitution G A upstream_gene_variant BRCA-EU 3 52315903 52315903 single base substitution T C intron_variant BRCA-EU 3 52315903 52315903 single base substitution T C upstream_gene_variant BRCA-EU 3 52316823 52316823 single base substitution A T intron_variant BRCA-EU 3 52316823 52316823 single base substitution A T upstream_gene_variant BRCA-EU 3 52317786 52317786 single base substitution C A intron_variant BRCA-EU 3 52318348 52318348 insertion of <=200bp - A intron_variant BRCA-EU 3 52319285 52319287 deletion of <=200bp ATA - intron_variant BRCA-EU 3 52319341 52319341 single base substitution T C intron_variant BRCA-EU 3 52319550 52319550 deletion of <=200bp T - intron_variant BRCA-EU 3 52320581 52320581 single base substitution T G intron_variant BRCA-EU 3 52323731 52323731 single base substitution G A upstream_gene_variant BRCA-EU 3 52325046 52325046 single base substitution G A upstream_gene_variant BRCA-EU 3 52325577 52325577 single base substitution C T upstream_gene_variant BRCA-FR 3 52300515 52300515 single base substitution G A intron_variant BRCA-FR 3 52306611 52306611 single base substitution T G intron_variant BRCA-FR 3 52306611 52306611 single base substitution T G upstream_gene_variant BRCA-FR 3 52312529 52312529 single base substitution C T 5_prime_UTR_variant BRCA-FR 3 52312529 52312529 single base substitution C T intron_variant BRCA-FR 3 52312529 52312529 single base substitution C T upstream_gene_variant BRCA-FR 3 52320323 52320323 single base substitution A G intron_variant BRCA-FR 3 52323731 52323731 single base substitution G A upstream_gene_variant BRCA-FR 3 52323896 52323896 single base substitution G T upstream_gene_variant BRCA-KR 3 52291561 52291561 single base substitution T G downstream_gene_variant BRCA-KR 3 52291561 52291561 single base substitution T G intron_variant BRCA-KR 3 52291595 52291595 single base substitution C G downstream_gene_variant BRCA-KR 3 52291595 52291595 single base substitution C G intron_variant BRCA-UK 3 52323716 52323716 single base substitution G C upstream_gene_variant BRCA-US 3 52283691 52283691 single base substitution C G downstream_gene_variant BRCA-US 3 52291511 52291511 single base substitution C A downstream_gene_variant BRCA-US 3 52291511 52291511 single base substitution C A exon_variant BRCA-US 3 52291511 52291511 single base substitution C A missense_variant D313Y 937G>T BRCA-US 3 52293228 52293228 single base substitution G A downstream_gene_variant BRCA-US 3 52293228 52293228 single base substitution G A exon_variant BRCA-US 3 52293228 52293228 single base substitution G A stop_gained Q252* 754C>T BRCA-US 3 52293748 52293748 single base substitution C T downstream_gene_variant BRCA-US 3 52293748 52293748 single base substitution C T exon_variant BRCA-US 3 52293748 52293748 single base substitution C T synonymous_variant V228V 684G>A BRCA-US 3 52302332 52302332 single base substitution G C intron_variant BRCA-US 3 52302332 52302332 single base substitution G C upstream_gene_variant BRCA-US 3 52326415 52326415 single base substitution G A upstream_gene_variant BRCA-US 3 52326693 52326693 single base substitution C A upstream_gene_variant BTCA-JP 3 52283811 52283812 deletion of <=200bp AA - downstream_gene_variant BTCA-JP 3 52292645 52292645 deletion of <=200bp T - downstream_gene_variant BTCA-JP 3 52292645 52292645 deletion of <=200bp T - exon_variant BTCA-JP 3 52292645 52292645 deletion of <=200bp T - frameshift_variant K273 BTCA-JP 3 52294603 52294603 deletion of <=200bp A - intron_variant BTCA-JP 3 52302375 52302375 single base substitution C T intron_variant BTCA-JP 3 52302375 52302375 single base substitution C T upstream_gene_variant BTCA-JP 3 52312409 52312409 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 3 52312409 52312409 single base substitution G T intron_variant BTCA-JP 3 52312409 52312409 single base substitution G T upstream_gene_variant CESC-US 3 52312323 52312323 single base substitution C T 5_prime_UTR_variant CESC-US 3 52312323 52312323 single base substitution C T intron_variant CESC-US 3 52312323 52312323 single base substitution C T missense_variant E19K 55G>A CLLE-ES 3 52313886 52313886 single base substitution G T intron_variant CLLE-ES 3 52313886 52313886 single base substitution G T upstream_gene_variant CLLE-ES 3 52314622 52314622 single base substitution T C intron_variant CLLE-ES 3 52314622 52314622 single base substitution T C upstream_gene_variant COAD-US 3 52283817 52283817 single base substitution G A downstream_gene_variant COAD-US 3 52325039 52325039 single base substitution G A upstream_gene_variant COAD-US 3 52326642 52326642 single base substitution C T upstream_gene_variant COAD-US 3 52326768 52326768 single base substitution G A upstream_gene_variant COCA-CN 3 52293497 52293497 single base substitution A C downstream_gene_variant COCA-CN 3 52293497 52293497 single base substitution A C intron_variant COCA-CN 3 52294603 52294603 single base substitution A G intron_variant COCA-CN 3 52302314 52302314 single base substitution C T intron_variant COCA-CN 3 52302314 52302314 single base substitution C T upstream_gene_variant COCA-CN 3 52326310 52326310 single base substitution A G upstream_gene_variant COCA-CN 3 52326891 52326891 single base substitution C T upstream_gene_variant ESAD-UK 3 52284807 52284808 deletion of <=200bp AA - downstream_gene_variant ESAD-UK 3 52284842 52284842 single base substitution T C downstream_gene_variant ESAD-UK 3 52285252 52285252 single base substitution C T downstream_gene_variant ESAD-UK 3 52285855 52285855 single base substitution C T downstream_gene_variant ESAD-UK 3 52289104 52289104 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 52289104 52289104 single base substitution G A downstream_gene_variant ESAD-UK 3 52289104 52289104 single base substitution G A exon_variant ESAD-UK 3 52292018 52292018 single base substitution C T downstream_gene_variant ESAD-UK 3 52292018 52292018 single base substitution C T intron_variant ESAD-UK 3 52295908 52295908 single base substitution C T intron_variant ESAD-UK 3 52300705 52300705 single base substitution C T intron_variant ESAD-UK 3 52301099 52301099 single base substitution C T exon_variant ESAD-UK 3 52301099 52301099 single base substitution C T intron_variant ESAD-UK 3 52302332 52302332 single base substitution G C intron_variant ESAD-UK 3 52302332 52302332 single base substitution G C upstream_gene_variant ESAD-UK 3 52302860 52302860 single base substitution T G intron_variant ESAD-UK 3 52302860 52302860 single base substitution T G upstream_gene_variant ESAD-UK 3 52303444 52303444 single base substitution T C intron_variant ESAD-UK 3 52303444 52303444 single base substitution T C upstream_gene_variant ESAD-UK 3 52306442 52306442 single base substitution C A intron_variant ESAD-UK 3 52306442 52306442 single base substitution C A upstream_gene_variant ESAD-UK 3 52307540 52307540 single base substitution C T intron_variant ESAD-UK 3 52308205 52308205 deletion of <=200bp A - intron_variant ESAD-UK 3 52308565 52308565 single base substitution G A intron_variant ESAD-UK 3 52309119 52309119 single base substitution C T intron_variant ESAD-UK 3 52316838 52316838 single base substitution G A intron_variant ESAD-UK 3 52316838 52316838 single base substitution G A upstream_gene_variant ESAD-UK 3 52317746 52317746 single base substitution A G intron_variant ESAD-UK 3 52318567 52318567 single base substitution G C 5_prime_UTR_variant ESAD-UK 3 52318800 52318800 single base substitution C A intron_variant ESAD-UK 3 52318801 52318801 single base substitution C T intron_variant ESAD-UK 3 52318860 52318860 single base substitution G A intron_variant ESAD-UK 3 52321220 52321220 single base substitution C G intron_variant ESAD-UK 3 52323856 52323856 single base substitution A G upstream_gene_variant ESAD-UK 3 52324576 52324576 single base substitution G T upstream_gene_variant ESAD-UK 3 52326042 52326042 single base substitution G A upstream_gene_variant GBM-US 3 52304745 52304745 single base substitution C G 5_prime_UTR_variant GBM-US 3 52304745 52304745 single base substitution C G missense_variant S81T 242G>C GBM-US 3 52304745 52304745 single base substitution C G upstream_gene_variant KIRC-US 3 52324497 52324497 single base substitution G A upstream_gene_variant LAML-KR 3 52312731 52312731 single base substitution G A intron_variant LAML-KR 3 52312731 52312731 single base substitution G A upstream_gene_variant LICA-CN 3 52326603 52326603 single base substitution G T upstream_gene_variant LICA-FR 3 52308826 52308826 single base substitution G A intron_variant LICA-FR 3 52318919 52318919 single base substitution A C intron_variant LICA-FR 3 52319330 52319330 single base substitution T A intron_variant LICA-FR 3 52326816 52326816 single base substitution G T upstream_gene_variant LICA-FR 3 52326948 52326948 single base substitution G A upstream_gene_variant LIHC-US 3 52293863 52293863 single base substitution T C downstream_gene_variant LIHC-US 3 52293863 52293863 single base substitution T C exon_variant LIHC-US 3 52293863 52293863 single base substitution T C missense_variant Q190R 569A>G LINC-JP 3 52287572 52287572 single base substitution C A downstream_gene_variant LINC-JP 3 52288669 52288669 single base substitution T C 3_prime_UTR_variant LINC-JP 3 52288669 52288669 single base substitution T C downstream_gene_variant LINC-JP 3 52290292 52290292 single base substitution G C 3_prime_UTR_variant LINC-JP 3 52290292 52290292 single base substitution G C downstream_gene_variant LINC-JP 3 52290292 52290292 single base substitution G C exon_variant LINC-JP 3 52291427 52291427 single base substitution C G 3_prime_UTR_variant LINC-JP 3 52291427 52291427 single base substitution C G downstream_gene_variant LINC-JP 3 52291427 52291427 single base substitution C G exon_variant LINC-JP 3 52293888 52293888 single base substitution C A downstream_gene_variant LINC-JP 3 52293888 52293888 single base substitution C A missense_variant G182W 544G>T LINC-JP 3 52293888 52293888 single base substitution C A missense_variant G68W 202G>T LINC-JP 3 52293888 52293888 single base substitution C A splice_region_variant LINC-JP 3 52326621 52326621 single base substitution C G upstream_gene_variant LINC-JP 3 52326932 52326932 single base substitution G T upstream_gene_variant LIRI-JP 3 52284857 52284857 single base substitution G A downstream_gene_variant LIRI-JP 3 52285061 52285061 single base substitution G A downstream_gene_variant LIRI-JP 3 52285567 52285567 single base substitution C T downstream_gene_variant LIRI-JP 3 52287940 52287940 single base substitution G C downstream_gene_variant LIRI-JP 3 52290378 52290378 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 52290378 52290378 single base substitution T C downstream_gene_variant LIRI-JP 3 52290378 52290378 single base substitution T C exon_variant LIRI-JP 3 52291850 52291850 single base substitution T A downstream_gene_variant LIRI-JP 3 52291850 52291850 single base substitution T A intron_variant LIRI-JP 3 52292019 52292019 single base substitution G C downstream_gene_variant LIRI-JP 3 52292019 52292019 single base substitution G C intron_variant LIRI-JP 3 52292398 52292398 single base substitution G T downstream_gene_variant LIRI-JP 3 52292398 52292398 single base substitution G T intron_variant LIRI-JP 3 52293223 52293223 single base substitution A G downstream_gene_variant LIRI-JP 3 52293223 52293223 single base substitution A G exon_variant LIRI-JP 3 52293223 52293223 single base substitution A G synonymous_variant F253F 759T>C LIRI-JP 3 52295406 52295406 single base substitution G A exon_variant LIRI-JP 3 52295406 52295406 single base substitution G A missense_variant P139L 416C>T LIRI-JP 3 52295406 52295406 single base substitution G A missense_variant P25L 74C>T LIRI-JP 3 52296476 52296476 single base substitution C A intron_variant LIRI-JP 3 52296713 52296713 single base substitution T C intron_variant LIRI-JP 3 52297503 52297503 single base substitution T A intron_variant LIRI-JP 3 52297590 52297590 single base substitution T C intron_variant LIRI-JP 3 52298005 52298005 single base substitution C A intron_variant LIRI-JP 3 52299294 52299294 single base substitution C G intron_variant LIRI-JP 3 52299913 52299913 single base substitution G C intron_variant LIRI-JP 3 52302284 52302284 single base substitution G C intron_variant LIRI-JP 3 52302284 52302284 single base substitution G C upstream_gene_variant LIRI-JP 3 52303217 52303217 single base substitution G A intron_variant LIRI-JP 3 52303217 52303217 single base substitution G A upstream_gene_variant LIRI-JP 3 52304935 52304935 single base substitution G T intron_variant LIRI-JP 3 52304935 52304935 single base substitution G T upstream_gene_variant LIRI-JP 3 52305391 52305391 single base substitution T C intron_variant LIRI-JP 3 52305391 52305391 single base substitution T C upstream_gene_variant LIRI-JP 3 52307904 52307904 single base substitution C A intron_variant LIRI-JP 3 52309357 52309357 single base substitution T C intron_variant LIRI-JP 3 52310501 52310501 single base substitution T G intron_variant LIRI-JP 3 52311121 52311121 single base substitution T G intron_variant LIRI-JP 3 52313451 52313451 single base substitution G T intron_variant LIRI-JP 3 52313451 52313451 single base substitution G T upstream_gene_variant LIRI-JP 3 52313776 52313776 single base substitution T A intron_variant LIRI-JP 3 52313776 52313776 single base substitution T A upstream_gene_variant LIRI-JP 3 52314129 52314135 deletion of <=200bp CTCCTGA - intron_variant LIRI-JP 3 52314129 52314135 deletion of <=200bp CTCCTGA - upstream_gene_variant LIRI-JP 3 52315124 52315153 deletion of <=200bp CTTTAAAAGAGCATCAGACTTAATTTTTTA - intron_variant LIRI-JP 3 52315124 52315153 deletion of <=200bp CTTTAAAAGAGCATCAGACTTAATTTTTTA - upstream_gene_variant LIRI-JP 3 52317910 52317910 single base substitution C T intron_variant LIRI-JP 3 52321120 52321120 single base substitution T C intron_variant LIRI-JP 3 52321205 52321205 single base substitution C A intron_variant LIRI-JP 3 52322005 52322005 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 3 52323555 52323555 single base substitution T C upstream_gene_variant LIRI-JP 3 52326574 52326574 single base substitution C T upstream_gene_variant LUSC-KR 3 52287858 52287858 single base substitution G A downstream_gene_variant LUSC-KR 3 52301624 52301624 single base substitution C A exon_variant LUSC-KR 3 52301624 52301624 single base substitution C A intron_variant LUSC-KR 3 52312369 52312369 single base substitution C T intron_variant LUSC-KR 3 52312369 52312369 single base substitution C T synonymous_variant L3L 9G>A LUSC-KR 3 52312369 52312369 single base substitution C T upstream_gene_variant LUSC-KR 3 52317358 52317358 single base substitution C T intron_variant LUSC-KR 3 52317358 52317358 single base substitution C T upstream_gene_variant LUSC-KR 3 52324857 52324857 single base substitution C T upstream_gene_variant LUSC-US 3 52312361 52312361 single base substitution C G intron_variant LUSC-US 3 52312361 52312361 single base substitution C G missense_variant S6T 17G>C LUSC-US 3 52312361 52312361 single base substitution C G upstream_gene_variant MALY-DE 3 52287342 52287342 single base substitution T C downstream_gene_variant MALY-DE 3 52287344 52287344 single base substitution G A downstream_gene_variant MALY-DE 3 52287683 52287683 single base substitution T G downstream_gene_variant MALY-DE 3 52287685 52287685 single base substitution T A downstream_gene_variant MALY-DE 3 52290330 52290330 single base substitution T G 3_prime_UTR_variant MALY-DE 3 52290330 52290330 single base substitution T G downstream_gene_variant MALY-DE 3 52290330 52290330 single base substitution T G exon_variant MALY-DE 3 52293499 52293499 single base substitution A G downstream_gene_variant MALY-DE 3 52293499 52293499 single base substitution A G intron_variant MALY-DE 3 52293665 52293665 single base substitution G T downstream_gene_variant MALY-DE 3 52293665 52293665 single base substitution G T intron_variant MALY-DE 3 52294086 52294086 single base substitution C A downstream_gene_variant MALY-DE 3 52294086 52294086 single base substitution C A intron_variant MALY-DE 3 52295696 52295696 single base substitution C T intron_variant MALY-DE 3 52297127 52297127 single base substitution G A intron_variant MALY-DE 3 52297344 52297344 single base substitution C T intron_variant MALY-DE 3 52300699 52300699 single base substitution C T intron_variant MALY-DE 3 52304416 52304416 single base substitution G A intron_variant MALY-DE 3 52304416 52304416 single base substitution G A upstream_gene_variant MALY-DE 3 52306584 52306584 single base substitution A C intron_variant MALY-DE 3 52306584 52306584 single base substitution A C upstream_gene_variant MALY-DE 3 52314239 52314239 single base substitution G C intron_variant MALY-DE 3 52314239 52314239 single base substitution G C upstream_gene_variant MALY-DE 3 52316197 52316198 deletion of <=200bp GT - intron_variant MALY-DE 3 52316197 52316198 deletion of <=200bp GT - upstream_gene_variant MALY-DE 3 52317224 52317224 insertion of <=200bp - A intron_variant MALY-DE 3 52317224 52317224 insertion of <=200bp - A upstream_gene_variant MALY-DE 3 52321591 52321591 single base substitution C T intron_variant MALY-DE 3 52322041 52322041 single base substitution T G upstream_gene_variant MALY-DE 3 52322846 52322846 single base substitution G A upstream_gene_variant MELA-AU 3 52283906 52283906 single base substitution C A downstream_gene_variant MELA-AU 3 52283908 52283908 single base substitution A T downstream_gene_variant MELA-AU 3 52284095 52284095 single base substitution G A downstream_gene_variant MELA-AU 3 52285153 52285153 single base substitution G A downstream_gene_variant MELA-AU 3 52285202 52285202 single base substitution C A downstream_gene_variant MELA-AU 3 52285503 52285503 single base substitution G A downstream_gene_variant MELA-AU 3 52285543 52285543 single base substitution A G downstream_gene_variant MELA-AU 3 52285791 52285791 single base substitution A C downstream_gene_variant MELA-AU 3 52286018 52286018 single base substitution G A downstream_gene_variant MELA-AU 3 52286400 52286400 single base substitution C G downstream_gene_variant MELA-AU 3 52287211 52287211 single base substitution A C downstream_gene_variant MELA-AU 3 52287771 52287771 single base substitution G A downstream_gene_variant MELA-AU 3 52288434 52288434 single base substitution G A downstream_gene_variant MELA-AU 3 52289054 52289054 single base substitution G A 3_prime_UTR_variant MELA-AU 3 52289054 52289054 single base substitution G A downstream_gene_variant MELA-AU 3 52289054 52289054 single base substitution G A exon_variant MELA-AU 3 52289216 52289216 single base substitution C T 3_prime_UTR_variant MELA-AU 3 52289216 52289216 single base substitution C T downstream_gene_variant MELA-AU 3 52289216 52289216 single base substitution C T exon_variant MELA-AU 3 52289361 52289361 single base substitution G A 3_prime_UTR_variant MELA-AU 3 52289361 52289361 single base substitution G A downstream_gene_variant MELA-AU 3 52289361 52289361 single base substitution G A exon_variant MELA-AU 3 52291379 52291379 single base substitution G A 3_prime_UTR_variant MELA-AU 3 52291379 52291379 single base substitution G A downstream_gene_variant MELA-AU 3 52291379 52291379 single base substitution G A exon_variant MELA-AU 3 52291395 52291395 single base substitution G A 3_prime_UTR_variant MELA-AU 3 52291395 52291395 single base substitution G A downstream_gene_variant MELA-AU 3 52291395 52291395 single base substitution G A exon_variant MELA-AU 3 52292051 52292051 single base substitution G A downstream_gene_variant MELA-AU 3 52292051 52292051 single base substitution G A intron_variant MELA-AU 3 52292412 52292412 single base substitution G A downstream_gene_variant MELA-AU 3 52292412 52292412 single base substitution G A intron_variant MELA-AU 3 52293203 52293203 single base substitution G A downstream_gene_variant MELA-AU 3 52293203 52293203 single base substitution G A intron_variant MELA-AU 3 52293245 52293245 single base substitution G A downstream_gene_variant MELA-AU 3 52293245 52293245 single base substitution G A exon_variant MELA-AU 3 52293245 52293245 single base substitution G A missense_variant S246L 737C>T MELA-AU 3 52293604 52293604 single base substitution G A downstream_gene_variant MELA-AU 3 52293604 52293604 single base substitution G A intron_variant MELA-AU 3 52293897 52293897 single base substitution G A downstream_gene_variant MELA-AU 3 52293897 52293897 single base substitution G A intron_variant MELA-AU 3 52294239 52294239 single base substitution G A downstream_gene_variant MELA-AU 3 52294239 52294239 single base substitution G A intron_variant MELA-AU 3 52294794 52294794 single base substitution G A intron_variant MELA-AU 3 52295295 52295295 single base substitution C T intron_variant MELA-AU 3 52295451 52295451 single base substitution G A exon_variant MELA-AU 3 52295451 52295451 single base substitution G A missense_variant S10F 29C>T MELA-AU 3 52295451 52295451 single base substitution G A missense_variant S124F 371C>T MELA-AU 3 52295529 52295529 single base substitution G A intron_variant MELA-AU 3 52295867 52295867 single base substitution G A intron_variant MELA-AU 3 52296357 52296357 single base substitution T C intron_variant MELA-AU 3 52296391 52296391 single base substitution G A intron_variant MELA-AU 3 52296621 52296622 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 52296963 52296963 single base substitution G A intron_variant MELA-AU 3 52297542 52297542 single base substitution G A intron_variant MELA-AU 3 52297667 52297667 single base substitution A G intron_variant MELA-AU 3 52297992 52297992 single base substitution C A intron_variant MELA-AU 3 52298086 52298086 single base substitution G A intron_variant MELA-AU 3 52298189 52298189 single base substitution A T intron_variant MELA-AU 3 52298399 52298399 single base substitution G A intron_variant MELA-AU 3 52298511 52298511 single base substitution G A intron_variant MELA-AU 3 52298572 52298572 single base substitution G A intron_variant MELA-AU 3 52298678 52298678 single base substitution G A intron_variant MELA-AU 3 52298995 52298995 single base substitution G A intron_variant MELA-AU 3 52299744 52299744 single base substitution A G intron_variant MELA-AU 3 52299861 52299861 single base substitution G A intron_variant MELA-AU 3 52300030 52300030 single base substitution G A intron_variant MELA-AU 3 52300033 52300033 single base substitution G A intron_variant MELA-AU 3 52300195 52300195 single base substitution G T intron_variant MELA-AU 3 52300223 52300223 single base substitution G A intron_variant MELA-AU 3 52300289 52300289 single base substitution G A intron_variant MELA-AU 3 52300956 52300956 single base substitution C T intron_variant MELA-AU 3 52301816 52301816 single base substitution G A exon_variant MELA-AU 3 52301816 52301816 single base substitution G A intron_variant MELA-AU 3 52302436 52302436 single base substitution G A intron_variant MELA-AU 3 52302436 52302436 single base substitution G A upstream_gene_variant MELA-AU 3 52302765 52302765 single base substitution G A intron_variant MELA-AU 3 52302765 52302765 single base substitution G A upstream_gene_variant MELA-AU 3 52303051 52303051 single base substitution G A intron_variant MELA-AU 3 52303051 52303051 single base substitution G A upstream_gene_variant MELA-AU 3 52305237 52305237 single base substitution T C intron_variant MELA-AU 3 52305237 52305237 single base substitution T C upstream_gene_variant MELA-AU 3 52305930 52305930 single base substitution A G intron_variant MELA-AU 3 52305930 52305930 single base substitution A G upstream_gene_variant MELA-AU 3 52306085 52306085 single base substitution G A intron_variant MELA-AU 3 52306085 52306085 single base substitution G A upstream_gene_variant MELA-AU 3 52307230 52307230 single base substitution G A intron_variant MELA-AU 3 52308025 52308025 single base substitution G A intron_variant MELA-AU 3 52308504 52308504 single base substitution C T intron_variant MELA-AU 3 52308682 52308682 single base substitution G A intron_variant MELA-AU 3 52308867 52308867 single base substitution C T intron_variant MELA-AU 3 52309024 52309025 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 52309214 52309214 single base substitution G A intron_variant MELA-AU 3 52309691 52309692 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 52310054 52310054 single base substitution G A intron_variant MELA-AU 3 52310533 52310533 single base substitution G A intron_variant MELA-AU 3 52310617 52310617 single base substitution G A intron_variant MELA-AU 3 52313079 52313079 single base substitution T C intron_variant MELA-AU 3 52313079 52313079 single base substitution T C upstream_gene_variant MELA-AU 3 52313485 52313485 single base substitution G A intron_variant MELA-AU 3 52313485 52313485 single base substitution G A upstream_gene_variant MELA-AU 3 52315357 52315357 single base substitution T A intron_variant MELA-AU 3 52315357 52315357 single base substitution T A upstream_gene_variant MELA-AU 3 52315648 52315648 single base substitution G A intron_variant MELA-AU 3 52315648 52315648 single base substitution G A upstream_gene_variant MELA-AU 3 52316368 52316368 single base substitution G A intron_variant MELA-AU 3 52316368 52316368 single base substitution G A upstream_gene_variant MELA-AU 3 52316609 52316609 single base substitution G A intron_variant MELA-AU 3 52316609 52316609 single base substitution G A upstream_gene_variant MELA-AU 3 52316735 52316735 single base substitution G A intron_variant MELA-AU 3 52316735 52316735 single base substitution G A upstream_gene_variant MELA-AU 3 52316857 52316857 single base substitution C T intron_variant MELA-AU 3 52316857 52316857 single base substitution C T upstream_gene_variant MELA-AU 3 52318793 52318793 single base substitution G A intron_variant MELA-AU 3 52319830 52319830 single base substitution C A intron_variant MELA-AU 3 52322034 52322034 single base substitution C T 5_prime_UTR_variant MELA-AU 3 52322052 52322052 single base substitution C T upstream_gene_variant MELA-AU 3 52322053 52322053 single base substitution C T upstream_gene_variant MELA-AU 3 52322058 52322058 single base substitution C T upstream_gene_variant MELA-AU 3 52322058 52322059 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 52322067 52322067 single base substitution C T upstream_gene_variant MELA-AU 3 52322120 52322120 single base substitution G A upstream_gene_variant MELA-AU 3 52322812 52322812 single base substitution C T upstream_gene_variant MELA-AU 3 52322867 52322867 single base substitution C T upstream_gene_variant MELA-AU 3 52323127 52323127 single base substitution G A upstream_gene_variant MELA-AU 3 52323347 52323347 single base substitution C T upstream_gene_variant MELA-AU 3 52323365 52323365 single base substitution T C upstream_gene_variant MELA-AU 3 52323556 52323556 single base substitution C T upstream_gene_variant MELA-AU 3 52324209 52324209 single base substitution C T upstream_gene_variant MELA-AU 3 52324226 52324226 single base substitution G A upstream_gene_variant MELA-AU 3 52324394 52324394 single base substitution C T upstream_gene_variant MELA-AU 3 52324538 52324538 single base substitution C T upstream_gene_variant MELA-AU 3 52324814 52324814 single base substitution C T upstream_gene_variant MELA-AU 3 52324884 52324884 single base substitution C T upstream_gene_variant MELA-AU 3 52325147 52325147 single base substitution C T upstream_gene_variant MELA-AU 3 52325196 52325196 single base substitution G A upstream_gene_variant MELA-AU 3 52325210 52325210 single base substitution C T upstream_gene_variant MELA-AU 3 52325260 52325260 single base substitution G A upstream_gene_variant MELA-AU 3 52326052 52326052 single base substitution C T upstream_gene_variant MELA-AU 3 52326258 52326258 single base substitution C T upstream_gene_variant MELA-AU 3 52326460 52326460 single base substitution G A upstream_gene_variant MELA-AU 3 52326626 52326626 single base substitution C T upstream_gene_variant MELA-AU 3 52326852 52326852 single base substitution C T upstream_gene_variant MELA-AU 3 52326903 52326903 single base substitution C T upstream_gene_variant ORCA-IN 3 52299503 52299503 single base substitution G A intron_variant ORCA-IN 3 52312292 52312292 single base substitution A T 5_prime_UTR_variant ORCA-IN 3 52312292 52312292 single base substitution A T intron_variant ORCA-IN 3 52312292 52312292 single base substitution A T missense_variant F29Y 86T>A OV-AU 3 52294592 52294592 single base substitution G T intron_variant OV-AU 3 52304343 52304343 single base substitution C A intron_variant OV-AU 3 52304343 52304343 single base substitution C A upstream_gene_variant OV-AU 3 52304349 52304349 single base substitution T A intron_variant OV-AU 3 52304349 52304349 single base substitution T A upstream_gene_variant OV-AU 3 52304862 52304862 single base substitution C T intron_variant OV-AU 3 52304862 52304862 single base substitution C T upstream_gene_variant OV-AU 3 52316055 52316055 single base substitution C T intron_variant OV-AU 3 52316055 52316055 single base substitution C T upstream_gene_variant OV-AU 3 52320743 52320743 single base substitution A C intron_variant OV-AU 3 52320973 52320973 single base substitution T A intron_variant OV-AU 3 52320974 52320974 single base substitution C G intron_variant OV-AU 3 52324300 52324300 single base substitution G T upstream_gene_variant OV-AU 3 52325684 52325684 single base substitution T G upstream_gene_variant PACA-AU 3 52294599 52294599 deletion of <=200bp G - intron_variant PACA-AU 3 52302402 52302402 single base substitution C T intron_variant PACA-AU 3 52302402 52302402 single base substitution C T upstream_gene_variant PACA-AU 3 52314899 52314899 single base substitution G T intron_variant PACA-AU 3 52314899 52314899 single base substitution G T upstream_gene_variant PACA-AU 3 52319419 52319419 single base substitution A G intron_variant PACA-CA 3 52284831 52284831 single base substitution T C downstream_gene_variant PACA-CA 3 52287828 52287828 single base substitution G A downstream_gene_variant PACA-CA 3 52290211 52290211 single base substitution T C 3_prime_UTR_variant PACA-CA 3 52290211 52290211 single base substitution T C downstream_gene_variant PACA-CA 3 52290211 52290211 single base substitution T C exon_variant PACA-CA 3 52291828 52291828 single base substitution G T downstream_gene_variant PACA-CA 3 52291828 52291828 single base substitution G T intron_variant PACA-CA 3 52293737 52293737 single base substitution A G downstream_gene_variant PACA-CA 3 52293737 52293737 single base substitution A G exon_variant PACA-CA 3 52293737 52293737 single base substitution A G missense_variant F232S 695T>C PACA-CA 3 52306286 52306286 single base substitution G A intron_variant PACA-CA 3 52306286 52306286 single base substitution G A upstream_gene_variant PACA-CA 3 52306414 52306414 single base substitution G T intron_variant PACA-CA 3 52306414 52306414 single base substitution G T upstream_gene_variant PACA-CA 3 52306474 52306474 single base substitution C A intron_variant PACA-CA 3 52306474 52306474 single base substitution C A upstream_gene_variant PACA-CA 3 52309856 52309856 single base substitution C T intron_variant PACA-CA 3 52310430 52310430 insertion of <=200bp - A intron_variant PACA-CA 3 52311562 52311562 single base substitution T C intron_variant PACA-CA 3 52311884 52311884 single base substitution A C intron_variant PACA-CA 3 52313942 52313942 single base substitution A C intron_variant PACA-CA 3 52313942 52313942 single base substitution A C upstream_gene_variant PACA-CA 3 52315879 52315879 single base substitution C T intron_variant PACA-CA 3 52315879 52315879 single base substitution C T upstream_gene_variant PACA-CA 3 52315939 52315939 single base substitution G A intron_variant PACA-CA 3 52315939 52315939 single base substitution G A upstream_gene_variant PACA-CA 3 52319882 52319882 single base substitution G T intron_variant PACA-CA 3 52322060 52322060 single base substitution C T upstream_gene_variant PAEN-AU 3 52291268 52291268 single base substitution T A 3_prime_UTR_variant PAEN-AU 3 52291268 52291268 single base substitution T A downstream_gene_variant PAEN-AU 3 52291268 52291268 single base substitution T A exon_variant PAEN-AU 3 52308840 52308840 single base substitution T G intron_variant PBCA-DE 3 52293160 52293160 single base substitution G T downstream_gene_variant PBCA-DE 3 52293160 52293160 single base substitution G T intron_variant PBCA-DE 3 52294707 52294707 insertion of <=200bp - A intron_variant PRAD-CA 3 52321788 52321788 single base substitution C T intron_variant PRAD-UK 3 52298424 52298424 single base substitution A C intron_variant PRAD-UK 3 52301861 52301861 single base substitution C T exon_variant PRAD-UK 3 52301861 52301861 single base substitution C T intron_variant PRAD-UK 3 52304383 52304383 single base substitution C A intron_variant PRAD-UK 3 52304383 52304383 single base substitution C A upstream_gene_variant PRAD-UK 3 52312811 52312811 single base substitution C A intron_variant PRAD-UK 3 52312811 52312811 single base substitution C A upstream_gene_variant PRAD-UK 3 52314907 52314907 single base substitution G A intron_variant PRAD-UK 3 52314907 52314907 single base substitution G A upstream_gene_variant PRAD-UK 3 52315337 52315337 insertion of <=200bp - ACATATATAT intron_variant PRAD-UK 3 52315337 52315337 insertion of <=200bp - ACATATATAT upstream_gene_variant PRAD-UK 3 52320413 52320413 single base substitution A G intron_variant PRAD-US 3 52304795 52304795 single base substitution A G 5_prime_UTR_variant PRAD-US 3 52304795 52304795 single base substitution A G synonymous_variant Y64Y 192T>C PRAD-US 3 52304795 52304795 single base substitution A G upstream_gene_variant RECA-EU 3 52287721 52287721 single base substitution C T downstream_gene_variant RECA-EU 3 52293420 52293420 single base substitution T A downstream_gene_variant RECA-EU 3 52293420 52293420 single base substitution T A intron_variant RECA-EU 3 52307721 52307721 single base substitution C G intron_variant RECA-EU 3 52321053 52321053 single base substitution A T intron_variant SKCA-BR 3 52286887 52286887 single base substitution A C downstream_gene_variant SKCA-BR 3 52288956 52288956 insertion of <=200bp - AT 3_prime_UTR_variant SKCA-BR 3 52288956 52288956 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 3 52291441 52291441 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 52291441 52291441 single base substitution G A downstream_gene_variant SKCA-BR 3 52291441 52291441 single base substitution G A exon_variant SKCA-BR 3 52297319 52297319 single base substitution A G intron_variant SKCA-BR 3 52298572 52298572 single base substitution G A intron_variant SKCA-BR 3 52299996 52299996 single base substitution G A intron_variant SKCA-BR 3 52303629 52303629 single base substitution C G intron_variant SKCA-BR 3 52303629 52303629 single base substitution C G upstream_gene_variant SKCA-BR 3 52306559 52306559 insertion of <=200bp - CAAAAAAAAAAA intron_variant SKCA-BR 3 52306559 52306559 insertion of <=200bp - CAAAAAAAAAAA upstream_gene_variant SKCA-BR 3 52313350 52313350 single base substitution C T intron_variant SKCA-BR 3 52313350 52313350 single base substitution C T upstream_gene_variant SKCA-BR 3 52315336 52315336 insertion of <=200bp - CATATAT intron_variant SKCA-BR 3 52315336 52315336 insertion of <=200bp - CATATAT upstream_gene_variant SKCA-BR 3 52315336 52315336 insertion of <=200bp - CAT intron_variant SKCA-BR 3 52315336 52315336 insertion of <=200bp - CAT upstream_gene_variant SKCA-BR 3 52315356 52315356 insertion of <=200bp - TA intron_variant SKCA-BR 3 52315356 52315356 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 3 52315357 52315357 single base substitution T A intron_variant SKCA-BR 3 52315357 52315357 single base substitution T A upstream_gene_variant SKCA-BR 3 52315358 52315358 insertion of <=200bp - TA intron_variant SKCA-BR 3 52315358 52315358 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 3 52315358 52315358 single base substitution T A intron_variant SKCA-BR 3 52315358 52315358 single base substitution T A upstream_gene_variant SKCA-BR 3 52315359 52315359 single base substitution T A intron_variant SKCA-BR 3 52315359 52315359 single base substitution T A upstream_gene_variant SKCA-BR 3 52317827 52317827 single base substitution A T intron_variant SKCA-BR 3 52318841 52318841 single base substitution C A intron_variant SKCA-BR 3 52321688 52321689 deletion of <=200bp GA - intron_variant SKCA-BR 3 52322052 52322052 single base substitution C T upstream_gene_variant SKCA-BR 3 52322060 52322060 single base substitution C T upstream_gene_variant SKCA-BR 3 52324312 52324312 single base substitution C T upstream_gene_variant SKCA-BR 3 52325326 52325326 single base substitution C T upstream_gene_variant SKCM-US 3 52283764 52283764 single base substitution C T downstream_gene_variant SKCM-US 3 52293245 52293245 single base substitution G A downstream_gene_variant SKCM-US 3 52293245 52293245 single base substitution G A exon_variant SKCM-US 3 52293245 52293245 single base substitution G A missense_variant S246L 737C>T SKCM-US 3 52293735 52293735 single base substitution C A downstream_gene_variant SKCM-US 3 52293735 52293735 single base substitution C A missense_variant G233W 697G>T SKCM-US 3 52293735 52293735 single base substitution C A splice_region_variant SKCM-US 3 52301026 52301026 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 3 52301026 52301026 single base substitution G A exon_variant SKCM-US 3 52301026 52301026 single base substitution G A missense_variant R90C 268C>T SKCM-US 3 52324385 52324385 single base substitution C T upstream_gene_variant SKCM-US 3 52324538 52324538 single base substitution C A upstream_gene_variant SKCM-US 3 52324538 52324538 single base substitution C T upstream_gene_variant SKCM-US 3 52324696 52324696 single base substitution C T upstream_gene_variant SKCM-US 3 52325015 52325015 single base substitution C T upstream_gene_variant SKCM-US 3 52325072 52325072 single base substitution C T upstream_gene_variant SKCM-US 3 52326291 52326291 single base substitution C T upstream_gene_variant SKCM-US 3 52326387 52326387 single base substitution C T upstream_gene_variant SKCM-US 3 52326770 52326770 single base substitution C T upstream_gene_variant STAD-US 3 52292564 52292564 single base substitution C T downstream_gene_variant STAD-US 3 52292564 52292564 single base substitution C T exon_variant STAD-US 3 52292564 52292564 single base substitution C T synonymous_variant A300A 900G>A STAD-US 3 52292655 52292656 deletion of <=200bp CT - downstream_gene_variant STAD-US 3 52292655 52292656 deletion of <=200bp CT - exon_variant STAD-US 3 52292655 52292656 deletion of <=200bp CT - frameshift_variant S270 STAD-US 3 52295479 52295479 single base substitution T C exon_variant STAD-US 3 52295479 52295479 single base substitution T C missense_variant M115V 343A>G STAD-US 3 52295479 52295479 single base substitution T C start_lost M1V 1A>G STAD-US 3 52325000 52325000 single base substitution C T upstream_gene_variant STAD-US 3 52325055 52325055 single base substitution C T upstream_gene_variant STAD-US 3 52325846 52325846 single base substitution C T upstream_gene_variant STAD-US 3 52326603 52326603 single base substitution G A upstream_gene_variant STAD-US 3 52326884 52326884 single base substitution G A upstream_gene_variant THCA-US 3 52326848 52326848 single base substitution G C upstream_gene_variant UCEC-US 3 52294458 52294458 single base substitution G A downstream_gene_variant UCEC-US 3 52294458 52294458 single base substitution G A exon_variant UCEC-US 3 52294458 52294458 single base substitution G A synonymous_variant F162F 486C>T UCEC-US 3 52294458 52294458 single base substitution G A synonymous_variant F48F 144C>T UCEC-US 3 52294471 52294471 single base substitution T C exon_variant UCEC-US 3 52294471 52294471 single base substitution T C missense_variant E158G 473A>G UCEC-US 3 52294471 52294471 single base substitution T C missense_variant E44G 131A>G UCEC-US 3 52300974 52300974 single base substitution C A 5_prime_UTR_variant UCEC-US 3 52300974 52300974 single base substitution C A exon_variant UCEC-US 3 52300974 52300974 single base substitution C A missense_variant S107I 320G>T UCEC-US 3 52301021 52301021 single base substitution G T 5_prime_UTR_variant UCEC-US 3 52301021 52301021 single base substitution G T exon_variant UCEC-US 3 52301021 52301021 single base substitution G T stop_gained Y91* 273C>A UCEC-US 3 52324415 52324415 single base substitution C A upstream_gene_variant UCEC-US 3 52324719 52324719 single base substitution G A upstream_gene_variant UCEC-US 3 52325015 52325015 single base substitution C T upstream_gene_variant UCEC-US 3 52326740 52326740 single base substitution G T upstream_gene_variant UCEC-US 3 52326914 52326914 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand I2L-P19Tb-Tumor-Organoid COSM5355351 c.487G>A p.A163T Substitution - Missense 3:52260441-52260441 - TCGA-A5-A0GP-01 COSM1046846 c.486C>T p.F162F Substitution - coding silent 3:52260442-52260442 - TCGA-B7-5816-01 COSM4118977 c.343A>G p.M115V Substitution - Missense 3:52261463-52261463 - T3724 COSM4741097 c.899C>T p.A300V Substitution - Missense 3:52258549-52258549 - TCGA-EE-A29D-06 COSM3595903 c.697G>T p.G233W Substitution - Missense 3:52259719-52259719 - 2_PRE-TREATMENT COSM1722953 c.469C>T p.P157S Substitution - Missense 3:52260459-52260459 - 2_RESISTANT COSM1722953 c.469C>T p.P157S Substitution - Missense 3:52260459-52260459 - BN37 COSM1617837 c.296C>G p.P99R Substitution - Missense 3:52256276-52256276 - HCC105T COSM1617838 c.544G>T p.G182W Substitution - Missense 3:52259872-52259872 - PD4968a COSM5800712 c.326+1G>C p.? Unknown 3:52266951-52266951 - 587376 COSM1232684 c.578G>A p.R193Q Substitution - Missense 3:52259838-52259838 - BN37T COSM1617837 c.296C>G p.P99R Substitution - Missense 3:52256276-52256276 - BD124T COSM5491654 c.819delA p.V274fs*1 Deletion - Frameshift 3:52258629-52258629 - TCGA-A8-A092-01 COSM446802 c.754C>T p.Q252* Substitution - Nonsense 3:52259212-52259212 - TCGA-19-5952-01 COSM2156681 c.781G>A p.G261S Substitution - Missense 3:52258667-52258667 - RK308_C01 COSM2852738 c.759T>C p.F253F Substitution - coding silent 3:52259207-52259207 - ME009T COSM222810 c.314G>A p.G105E Substitution - Missense 3:52266964-52266964 - SW948 COSM2852741 c.493G>A p.G165S Substitution - Missense 3:52260435-52260435 - TCGA-ER-A19K-01 COSM3595905 c.268C>T p.R90C Substitution - Missense 3:52267010-52267010 - 587376 COSM1232683 c.655C>T p.R219C Substitution - Missense 3:52259761-52259761 - TCGA-A2-A0CX-01 COSM446801 c.937G>T p.D313Y Substitution - Missense 3:52257495-52257495 - TCGA-24-1551-01 COSM73289 c.387G>C p.K129N Substitution - Missense 3:52261419-52261419 - HCC105 COSM1617838 c.544G>T p.G182W Substitution - Missense 3:52259872-52259872 - TCGA-66-2770-01 COSM731137 c.17G>C p.S6T Substitution - Missense 3:52278345-52278345 - TCGA-MU-A51Y-01 COSM4836387 c.55G>A p.E19K Substitution - Missense 3:52278307-52278307 - TCGA-A2-A0CX-01 COSM446803 c.684G>A p.V228V Substitution - coding silent 3:52259732-52259732 - TCGA-B0-5699-01 COSM480274 c.223G>A p.A75T Substitution - Missense 3:52270748-52270748 - TCGA-EE-A29X-06 COSM3595902 c.737C>T p.S246L Substitution - Missense 3:52259229-52259229 - TCGA-19-5952 COSM2156681 c.781G>A p.G261S Substitution - Missense 3:52258667-52258667 - TCGA-BS-A0UV-01 COSM1046849 c.320G>T p.S107I Substitution - Missense 3:52266958-52266958 - PT21_2 COSM5901290 c.415C>T p.P139S Substitution - Missense 3:52261391-52261391 - SJOS015_D COSM5023900 c.565A>G p.M189V Substitution - Missense 3:52259851-52259851 - OSCC-GB_00640111 COSM4885245 c.86T>A p.F29Y Substitution - Missense 3:52278276-52278276 - TCGA-AP-A059-01 COSM1046850 c.273C>A p.Y91* Substitution - Nonsense 3:52267005-52267005 - TCGA-BT-A42C-01 COSM4390501 c.505G>A p.E169K Substitution - Missense 3:52260423-52260423 - TCGA-32-1979-01 COSM3408782 c.242G>C p.S81T Substitution - Missense 3:52270729-52270729 - I2L-P19Tb-Tumor-Biopsy COSM5355351 c.487G>A p.A163T Substitution - Missense 3:52260441-52260441 - PCSI_0083_Pa_P_526 COSM3781848 c.377A>G p.K126R Substitution - Missense 3:52256195-52256195 - TCGA-HJ-7597-01 COSM4118976 c.900G>A p.A300A Substitution - coding silent 3:52258548-52258548 - RK102_C01 COSM3702456 c.416C>T p.P139L Substitution - Missense 3:52261390-52261390 - TCGA-QU-A6IL-01 COSM4393746 c.192T>C p.Y64Y Substitution - coding silent 3:52270779-52270779 - PD13625a COSM5799607 c.268C>A p.R90S Substitution - Missense 3:52267010-52267010 - RK043_C01 COSM3702455 c.210A>G p.I70M Substitution - Missense 3:52256362-52256362 - TCGA-ES-A2HT-01 COSM4938452 c.569A>G p.Q190R Substitution - Missense 3:52259847-52259847 - H1155 COSM1195708 c.706G>A p.A236T Substitution - Missense 3:52259260-52259260 - T3306 COSM4741098 c.643G>A p.G215S Substitution - Missense 3:52259773-52259773 - TCGA-BS-A0UJ-01 COSM1046847 c.473A>G p.E158G Substitution - Missense 3:52260455-52260455 - 6 COSM1237140 c.571T>C p.Y191H Substitution - Missense 3:52259845-52259845 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.194081;Hs.194110 3p21.2 611059 2451842|CGAP|BC018941|G/T|non-coding||1984|Candidate; 2448053|dbSNP|BC018941|C/T|non-coding||2755|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D28E c.84T>G 3 52312294 CM A G Synonymous p.Y64Y c.192T>C 3 52304795 PRAD C A Missense p.D313Y c.937G>T 3 52291511 BRCA C A Missense p.G271C c.811G>T 3 52292653 HNSC C G Missense p.K129N c.387G>C 3 52295435 OV C G Missense p.S6T c.17G>C 3 52312361 LUSC C G Missense p.S81T c.242G>C 3 52304745 GBM C T Missense p.G105E c.314G>A 3 52300980 CM C T Missense p.G261S c.781G>A 3 52292683 GBM C T Synonymous p.V228V c.684G>A 3 52293748 BRCA G A Missense p.R90C c.268C>T 3 52301026 CM G A Missense p.S246L c.737C>T 3 52293245 CM G A Nonsense p.Q252* c.754C>T 3 52293228 BRCA G A Synonymous p.F162F c.486C>T 3 52294458 UCEC G C IntronicSNV . c.260-1298C>G 3 52302332 BRCA T C 5-UTRSNV . c.1-10A>G 3 52312387 CM T C Missense p.I85V c.253A>G 3 52304734 HNSC T C Missense p.M115V c.343A>G 3 52295479 STAD